Genetics Home Reference

Genetics Home Reference http://ghr.nlm.nih.gov/ US National Library of Medicine Subject to "Terms of Use" at http://ghr.nlm.nih.gov/TermsAndConditions Conditions http://ghr.nlm.nih.gov/BrowseConditions Aarskog-Scott syndrome http://ghr.nlm.nih.gov/condition/aarskog-scott-syndrome abdominal wall defect http://ghr.nlm.nih.gov/condition/abdominal-wall-defect abetalipoproteinemia http://ghr.nlm.nih.gov/condition/abetalipoproteinemia aceruloplasminemia http://ghr.nlm.nih.gov/condition/aceruloplasminemia achondrogenesis http://ghr.nlm.nih.gov/condition/achondrogenesis achondroplasia http://ghr.nlm.nih.gov/condition/achondroplasia actin-accumulation myopathy http://ghr.nlm.nih.gov/condition/actin-accumulation-myopathy acute promyelocytic leukemia http://ghr.nlm.nih.gov/condition/acute-promyelocytic-leukemia adenine phosphoribosyltransferase deficiency http://ghr.nlm.nih.gov/condition/adenine-phosphoribosyltransferase-deficiency adenosine deaminase deficiency http://ghr.nlm.nih.gov/condition/adenosine-deaminase-deficiency adenosine monophosphate deaminase deficiency http://ghr.nlm.nih.gov/condition/adenosine-monophosphate-deaminase-deficiency adiposis dolorosa http://ghr.nlm.nih.gov/condition/adiposis-dolorosa adult polyglucosan body disease http://ghr.nlm.nih.gov/condition/adult-polyglucosan-body-disease African iron overload http://ghr.nlm.nih.gov/condition/african-iron-overload age-related macular degeneration http://ghr.nlm.nih.gov/condition/age-related-macular-degeneration Aicardi-Goutieres syndrome http://ghr.nlm.nih.gov/condition/aicardi-goutieres-syndrome Aicardi syndrome http://ghr.nlm.nih.gov/condition/aicardi-syndrome Alagille syndrome http://ghr.nlm.nih.gov/condition/alagille-syndrome Alexander disease http://ghr.nlm.nih.gov/condition/alexander-disease alkaptonuria http://ghr.nlm.nih.gov/condition/alkaptonuria Allan-Herndon-Dudley syndrome http://ghr.nlm.nih.gov/condition/allan-herndon-dudley-syndrome Alpers-Huttenlocher syndrome http://ghr.nlm.nih.gov/condition/alpers-huttenlocher-syndrome alpha-1 antitrypsin deficiency http://ghr.nlm.nih.gov/condition/alpha-1-antitrypsin-deficiency 5-alpha reductase deficiency http://ghr.nlm.nih.gov/condition/5-alpha-reductase-deficiency alpha-mannosidosis http://ghr.nlm.nih.gov/condition/alpha-mannosidosis alpha thalassemia http://ghr.nlm.nih.gov/condition/alpha-thalassemia alpha thalassemia X-linked intellectual disability syndrome http://ghr.nlm.nih.gov/condition/alpha-thalassemia-x-linked-intellectual-disability-syndrome Alport syndrome http://ghr.nlm.nih.gov/condition/alport-syndrome Alström syndrome http://ghr.nlm.nih.gov/condition/alstrom-syndrome alveolar capillary dysplasia with misalignment of pulmonary veins http://ghr.nlm.nih.gov/condition/alveolar-capillary-dysplasia-with-misalignment-of-pulmonary-veins Alzheimer disease http://ghr.nlm.nih.gov/condition/alzheimer-disease amelogenesis imperfecta http://ghr.nlm.nih.gov/condition/amelogenesis-imperfecta Amish lethal microcephaly http://ghr.nlm.nih.gov/condition/amish-lethal-microcephaly amyotrophic lateral sclerosis http://ghr.nlm.nih.gov/condition/amyotrophic-lateral-sclerosis Andermann syndrome http://ghr.nlm.nih.gov/condition/andermann-syndrome Andersen-Tawil syndrome http://ghr.nlm.nih.gov/condition/andersen-tawil-syndrome androgen insensitivity syndrome http://ghr.nlm.nih.gov/condition/androgen-insensitivity-syndrome androgenetic alopecia http://ghr.nlm.nih.gov/condition/androgenetic-alopecia anencephaly http://ghr.nlm.nih.gov/condition/anencephaly Angelman syndrome http://ghr.nlm.nih.gov/condition/angelman-syndrome aniridia http://ghr.nlm.nih.gov/condition/aniridia ankyloblepharon-ectodermal defects-cleft lip/palate syndrome http://ghr.nlm.nih.gov/condition/ankyloblepharon-ectodermal-defects-cleft-lip-palate-syndrome ankylosing spondylitis http://ghr.nlm.nih.gov/condition/ankylosing-spondylitis Apert syndrome http://ghr.nlm.nih.gov/condition/apert-syndrome arginase deficiency http://ghr.nlm.nih.gov/condition/arginase-deficiency arginine:glycine amidinotransferase deficiency http://ghr.nlm.nih.gov/condition/arginineglycine-amidinotransferase-deficiency argininosuccinic aciduria http://ghr.nlm.nih.gov/condition/argininosuccinic-aciduria aromatic l-amino acid decarboxylase deficiency http://ghr.nlm.nih.gov/condition/aromatic-l-amino-acid-decarboxylase-deficiency arrhythmogenic right ventricular cardiomyopathy http://ghr.nlm.nih.gov/condition/arrhythmogenic-right-ventricular-cardiomyopathy arterial tortuosity syndrome http://ghr.nlm.nih.gov/condition/arterial-tortuosity-syndrome Arts syndrome http://ghr.nlm.nih.gov/condition/arts-syndrome aspartylglucosaminuria http://ghr.nlm.nih.gov/condition/aspartylglucosaminuria Asperger syndrome http://ghr.nlm.nih.gov/condition/asperger-syndrome asphyxiating thoracic dystrophy http://ghr.nlm.nih.gov/condition/asphyxiating-thoracic-dystrophy ataxia neuropathy spectrum http://ghr.nlm.nih.gov/condition/ataxia-neuropathy-spectrum ataxia-telangiectasia http://ghr.nlm.nih.gov/condition/ataxia-telangiectasia ataxia with oculomotor apraxia http://ghr.nlm.nih.gov/condition/ataxia-with-oculomotor-apraxia ataxia with vitamin E deficiency http://ghr.nlm.nih.gov/condition/ataxia-with-vitamin-e-deficiency atelosteogenesis type 1 http://ghr.nlm.nih.gov/condition/atelosteogenesis-type-1 atelosteogenesis type 2 http://ghr.nlm.nih.gov/condition/atelosteogenesis-type-2 atelosteogenesis type 3 http://ghr.nlm.nih.gov/condition/atelosteogenesis-type-3 atypical hemolytic-uremic syndrome http://ghr.nlm.nih.gov/condition/atypical-hemolytic-uremic-syndrome auriculo-condylar syndrome http://ghr.nlm.nih.gov/condition/auriculo-condylar-syndrome autoimmune lymphoproliferative syndrome http://ghr.nlm.nih.gov/condition/autoimmune-lymphoproliferative-syndrome autoimmune polyglandular syndrome, type 1 http://ghr.nlm.nih.gov/condition/autoimmune-polyglandular-syndrome-type-1 autosomal dominant nocturnal frontal lobe epilepsy http://ghr.nlm.nih.gov/condition/autosomal-dominant-nocturnal-frontal-lobe-epilepsy autosomal dominant partial epilepsy with auditory features http://ghr.nlm.nih.gov/condition/autosomal-dominant-partial-epilepsy-with-auditory-features autosomal recessive cerebellar ataxia type 1 http://ghr.nlm.nih.gov/condition/autosomal-recessive-cerebellar-ataxia-type-1 autosomal recessive hypotrichosis http://ghr.nlm.nih.gov/condition/autosomal-recessive-hypotrichosis autosomal recessive primary microcephaly http://ghr.nlm.nih.gov/condition/autosomal-recessive-primary-microcephaly autosomal recessive spastic ataxia of Charlevoix-Saguenay http://ghr.nlm.nih.gov/condition/autosomal-recessive-spastic-ataxia-of-charlevoix-saguenay Axenfeld-Rieger syndrome http://ghr.nlm.nih.gov/condition/axenfeld-rieger-syndrome Baller-Gerold syndrome http://ghr.nlm.nih.gov/condition/baller-gerold-syndrome Bannayan-Riley-Ruvalcaba syndrome http://ghr.nlm.nih.gov/condition/bannayan-riley-ruvalcaba-syndrome Baraitser-Winter syndrome http://ghr.nlm.nih.gov/condition/baraitser-winter-syndrome Bardet-Biedl syndrome http://ghr.nlm.nih.gov/condition/bardet-biedl-syndrome Bart-Pumphrey syndrome http://ghr.nlm.nih.gov/condition/bart-pumphrey-syndrome Bartter syndrome http://ghr.nlm.nih.gov/condition/bartter-syndrome Beare-Stevenson cutis gyrata syndrome http://ghr.nlm.nih.gov/condition/beare-stevenson-cutis-gyrata-syndrome Beckwith-Wiedemann syndrome http://ghr.nlm.nih.gov/condition/beckwith-wiedemann-syndrome Behçet disease http://ghr.nlm.nih.gov/condition/behcet-disease benign essential blepharospasm http://ghr.nlm.nih.gov/condition/benign-essential-blepharospasm benign familial neonatal seizures http://ghr.nlm.nih.gov/condition/benign-familial-neonatal-seizures benign recurrent intrahepatic cholestasis http://ghr.nlm.nih.gov/condition/benign-recurrent-intrahepatic-cholestasis Berardinelli-Seip congenital lipodystrophy http://ghr.nlm.nih.gov/condition/berardinelli-seip-congenital-lipodystrophy 3-beta-hydroxysteroid dehydrogenase deficiency http://ghr.nlm.nih.gov/condition/3-beta-hydroxysteroid-dehydrogenase-deficiency 17-beta hydroxysteroid dehydrogenase 3 deficiency http://ghr.nlm.nih.gov/condition/17-beta-hydroxysteroid-dehydrogenase-3-deficiency 17β-hydroxysteroid dehydrogenase type 10 deficiency http://ghr.nlm.nih.gov/condition/17beta-hydroxysteroid-dehydrogenase-type-10-deficiency beta-ketothiolase deficiency http://ghr.nlm.nih.gov/condition/beta-ketothiolase-deficiency beta-mannosidosis http://ghr.nlm.nih.gov/condition/beta-mannosidosis beta thalassemia http://ghr.nlm.nih.gov/condition/beta-thalassemia Bethlem myopathy http://ghr.nlm.nih.gov/condition/bethlem-myopathy Bietti crystalline dystrophy http://ghr.nlm.nih.gov/condition/bietti-crystalline-dystrophy biotinidase deficiency http://ghr.nlm.nih.gov/condition/biotinidase-deficiency Birt-Hogg-Dubé syndrome http://ghr.nlm.nih.gov/condition/birt-hogg-dube-syndrome bladder cancer http://ghr.nlm.nih.gov/condition/bladder-cancer Blau syndrome http://ghr.nlm.nih.gov/condition/blau-syndrome blepharophimosis, ptosis, and epicanthus inversus syndrome http://ghr.nlm.nih.gov/condition/blepharophimosis-ptosis-and-epicanthus-inversus-syndrome Bloom syndrome http://ghr.nlm.nih.gov/condition/bloom-syndrome boomerang dysplasia http://ghr.nlm.nih.gov/condition/boomerang-dysplasia branchio-oculo-facial syndrome http://ghr.nlm.nih.gov/condition/branchio-oculo-facial-syndrome branchiootorenal syndrome http://ghr.nlm.nih.gov/condition/branchiootorenal-syndrome breast cancer http://ghr.nlm.nih.gov/condition/breast-cancer Brody myopathy http://ghr.nlm.nih.gov/condition/brody-myopathy Brooke-Spiegler syndrome http://ghr.nlm.nih.gov/condition/brooke-spiegler-syndrome Brown-Vialetto-Van Laere syndrome http://ghr.nlm.nih.gov/condition/brown-vialetto-van-laere-syndrome Brugada syndrome http://ghr.nlm.nih.gov/condition/brugada-syndrome Caffey disease http://ghr.nlm.nih.gov/condition/caffey-disease campomelic dysplasia http://ghr.nlm.nih.gov/condition/campomelic-dysplasia Camurati-Engelmann disease http://ghr.nlm.nih.gov/condition/camurati-engelmann-disease Canavan disease http://ghr.nlm.nih.gov/condition/canavan-disease Cantú syndrome http://ghr.nlm.nih.gov/condition/cantu-syndrome cap myopathy http://ghr.nlm.nih.gov/condition/cap-myopathy capillary malformation-arteriovenous malformation syndrome http://ghr.nlm.nih.gov/condition/capillary-malformation-arteriovenous-malformation-syndrome carbamoyl phosphate synthetase I deficiency http://ghr.nlm.nih.gov/condition/carbamoyl-phosphate-synthetase-i-deficiency cardiofaciocutaneous syndrome http://ghr.nlm.nih.gov/condition/cardiofaciocutaneous-syndrome Carney complex http://ghr.nlm.nih.gov/condition/carney-complex carnitine-acylcarnitine translocase deficiency http://ghr.nlm.nih.gov/condition/carnitine-acylcarnitine-translocase-deficiency carnitine palmitoyltransferase I deficiency http://ghr.nlm.nih.gov/condition/carnitine-palmitoyltransferase-i-deficiency carnitine palmitoyltransferase II deficiency http://ghr.nlm.nih.gov/condition/carnitine-palmitoyltransferase-ii-deficiency Carpenter syndrome http://ghr.nlm.nih.gov/condition/carpenter-syndrome cartilage-hair hypoplasia http://ghr.nlm.nih.gov/condition/cartilage-hair-hypoplasia catecholaminergic polymorphic ventricular tachycardia http://ghr.nlm.nih.gov/condition/catecholaminergic-polymorphic-ventricular-tachycardia CATSPER1-related nonsyndromic male infertility http://ghr.nlm.nih.gov/condition/catsper1-related-nonsyndromic-male-infertility caudal regression syndrome http://ghr.nlm.nih.gov/condition/caudal-regression-syndrome celiac disease http://ghr.nlm.nih.gov/condition/celiac-disease central core disease http://ghr.nlm.nih.gov/condition/central-core-disease centronuclear myopathy http://ghr.nlm.nih.gov/condition/centronuclear-myopathy cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy http://ghr.nlm.nih.gov/condition/cerebral-autosomal-dominant-arteriopathy-with-subcortical-infarcts-and-leukoencephalopathy cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy http://ghr.nlm.nih.gov/condition/cerebral-autosomal-recessive-arteriopathy-with-subcortical-infarcts-and-leukoencephalopathy cerebral cavernous malformation http://ghr.nlm.nih.gov/condition/cerebral-cavernous-malformation cerebrotendinous xanthomatosis http://ghr.nlm.nih.gov/condition/cerebrotendinous-xanthomatosis Chanarin-Dorfman syndrome http://ghr.nlm.nih.gov/condition/chanarin-dorfman-syndrome Char syndrome http://ghr.nlm.nih.gov/condition/char-syndrome Charcot-Marie-Tooth disease http://ghr.nlm.nih.gov/condition/charcot-marie-tooth-disease CHARGE syndrome http://ghr.nlm.nih.gov/condition/charge-syndrome Chediak-Higashi syndrome http://ghr.nlm.nih.gov/condition/chediak-higashi-syndrome cherubism http://ghr.nlm.nih.gov/condition/cherubism childhood myocerebrohepatopathy spectrum http://ghr.nlm.nih.gov/condition/childhood-myocerebrohepatopathy-spectrum CHMP2B-related frontotemporal dementia http://ghr.nlm.nih.gov/condition/chmp2b-related-frontotemporal-dementia cholesteryl ester storage disease http://ghr.nlm.nih.gov/condition/cholesteryl-ester-storage-disease chordoma http://ghr.nlm.nih.gov/condition/chordoma chorea-acanthocytosis http://ghr.nlm.nih.gov/condition/chorea-acanthocytosis choroideremia http://ghr.nlm.nih.gov/condition/choroideremia Christianson syndrome http://ghr.nlm.nih.gov/condition/christianson-syndrome chronic granulomatous disease http://ghr.nlm.nih.gov/condition/chronic-granulomatous-disease CHST3-related skeletal dysplasia http://ghr.nlm.nih.gov/condition/chst3-related-skeletal-dysplasia chylomicron retention disease http://ghr.nlm.nih.gov/condition/chylomicron-retention-disease citrullinemia http://ghr.nlm.nih.gov/condition/citrullinemia cleidocranial dysplasia http://ghr.nlm.nih.gov/condition/cleidocranial-dysplasia Cockayne syndrome http://ghr.nlm.nih.gov/condition/cockayne-syndrome Coffin-Lowry syndrome http://ghr.nlm.nih.gov/condition/coffin-lowry-syndrome Coffin-Siris syndrome http://ghr.nlm.nih.gov/condition/coffin-siris-syndrome Cohen syndrome http://ghr.nlm.nih.gov/condition/cohen-syndrome COL4A1-related brain small-vessel disease http://ghr.nlm.nih.gov/condition/col4a1-related-brain-small-vessel-disease cold-induced sweating syndrome http://ghr.nlm.nih.gov/condition/cold-induced-sweating-syndrome coloboma http://ghr.nlm.nih.gov/condition/coloboma color vision deficiency http://ghr.nlm.nih.gov/condition/color-vision-deficiency combined malonic and methylmalonic aciduria http://ghr.nlm.nih.gov/condition/combined-malonic-and-methylmalonic-aciduria combined pituitary hormone deficiency http://ghr.nlm.nih.gov/condition/combined-pituitary-hormone-deficiency common variable immune deficiency http://ghr.nlm.nih.gov/condition/common-variable-immune-deficiency complement factor I deficiency http://ghr.nlm.nih.gov/condition/complement-factor-i-deficiency congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency http://ghr.nlm.nih.gov/condition/congenital-adrenal-hyperplasia-due-to-11-beta-hydroxylase-deficiency congenital afibrinogenemia http://ghr.nlm.nih.gov/condition/congenital-afibrinogenemia congenital bilateral absence of the vas deferens http://ghr.nlm.nih.gov/condition/congenital-bilateral-absence-of-the-vas-deferens congenital cataracts, facial dysmorphism, and neuropathy http://ghr.nlm.nih.gov/condition/congenital-cataracts-facial-dysmorphism-and-neuropathy congenital central hypoventilation syndrome http://ghr.nlm.nih.gov/condition/congenital-central-hypoventilation-syndrome congenital contractural arachnodactyly http://ghr.nlm.nih.gov/condition/congenital-contractural-arachnodactyly congenital deafness with labyrinthine aplasia, microtia, and microdontia http://ghr.nlm.nih.gov/condition/congenital-deafness-with-labyrinthine-aplasia-microtia-and-microdontia congenital diaphragmatic hernia http://ghr.nlm.nih.gov/condition/congenital-diaphragmatic-hernia congenital disorder of glycosylation type Ia http://ghr.nlm.nih.gov/condition/congenital-disorder-of-glycosylation-type-ia congenital dyserythropoietic anemia http://ghr.nlm.nih.gov/condition/congenital-dyserythropoietic-anemia congenital fiber-type disproportion http://ghr.nlm.nih.gov/condition/congenital-fiber-type-disproportion congenital fibrosis of the extraocular muscles http://ghr.nlm.nih.gov/condition/congenital-fibrosis-of-the-extraocular-muscles congenital hemidysplasia with ichthyosiform erythroderma and limb defects http://ghr.nlm.nih.gov/condition/congenital-hemidysplasia-with-ichthyosiform-erythroderma-and-limb-defects congenital hepatic fibrosis http://ghr.nlm.nih.gov/condition/congenital-hepatic-fibrosis congenital hypothyroidism http://ghr.nlm.nih.gov/condition/congenital-hypothyroidism congenital insensitivity to pain http://ghr.nlm.nih.gov/condition/congenital-insensitivity-to-pain congenital insensitivity to pain with anhidrosis http://ghr.nlm.nih.gov/condition/congenital-insensitivity-to-pain-with-anhidrosis congenital myasthenic syndrome http://ghr.nlm.nih.gov/condition/congenital-myasthenic-syndrome congenital plasminogen deficiency http://ghr.nlm.nih.gov/condition/congenital-plasminogen-deficiency congenital stromal corneal dystrophy http://ghr.nlm.nih.gov/condition/congenital-stromal-corneal-dystrophy congenital sucrase-isomaltase deficiency http://ghr.nlm.nih.gov/condition/congenital-sucrase-isomaltase-deficiency Cornelia de Lange syndrome http://ghr.nlm.nih.gov/condition/cornelia-de-lange-syndrome Costello syndrome http://ghr.nlm.nih.gov/condition/costello-syndrome Cowden syndrome http://ghr.nlm.nih.gov/condition/cowden-syndrome craniofacial-deafness-hand syndrome http://ghr.nlm.nih.gov/condition/craniofacial-deafness-hand-syndrome craniofacial microsomia http://ghr.nlm.nih.gov/condition/craniofacial-microsomia craniometaphyseal dysplasia http://ghr.nlm.nih.gov/condition/craniometaphyseal-dysplasia cri-du-chat syndrome http://ghr.nlm.nih.gov/condition/cri-du-chat-syndrome Crigler-Najjar syndrome http://ghr.nlm.nih.gov/condition/crigler-najjar-syndrome Crohn disease http://ghr.nlm.nih.gov/condition/crohn-disease Crouzon syndrome http://ghr.nlm.nih.gov/condition/crouzon-syndrome Crouzonodermoskeletal syndrome http://ghr.nlm.nih.gov/condition/crouzonodermoskeletal-syndrome Cushing disease http://ghr.nlm.nih.gov/condition/cushing-disease cutis laxa http://ghr.nlm.nih.gov/condition/cutis-laxa cyclic neutropenia http://ghr.nlm.nih.gov/condition/cyclic-neutropenia cyclic vomiting syndrome http://ghr.nlm.nih.gov/condition/cyclic-vomiting-syndrome cystic fibrosis http://ghr.nlm.nih.gov/condition/cystic-fibrosis cystinosis http://ghr.nlm.nih.gov/condition/cystinosis cystinuria http://ghr.nlm.nih.gov/condition/cystinuria cytochrome c oxidase deficiency http://ghr.nlm.nih.gov/condition/cytochrome-c-oxidase-deficiency cytochrome P450 oxidoreductase deficiency http://ghr.nlm.nih.gov/condition/cytochrome-p450-oxidoreductase-deficiency Czech dysplasia http://ghr.nlm.nih.gov/condition/czech-dysplasia Dandy-Walker syndrome http://ghr.nlm.nih.gov/condition/dandy-walker-syndrome Danon disease http://ghr.nlm.nih.gov/condition/danon-disease Darier disease http://ghr.nlm.nih.gov/condition/darier-disease deafness-dystonia-optic neuronopathy syndrome http://ghr.nlm.nih.gov/condition/deafness-dystonia-optic-neuronopathy-syndrome 1p36 deletion syndrome http://ghr.nlm.nih.gov/condition/1p36-deletion-syndrome 2q37 deletion syndrome http://ghr.nlm.nih.gov/condition/2q37-deletion-syndrome 16p11.2 deletion syndrome http://ghr.nlm.nih.gov/condition/16p112-deletion-syndrome 22q11.2 deletion syndrome http://ghr.nlm.nih.gov/condition/22q112-deletion-syndrome 22q13.3 deletion syndrome http://ghr.nlm.nih.gov/condition/22q133-deletion-syndrome dense deposit disease http://ghr.nlm.nih.gov/condition/dense-deposit-disease Dent disease http://ghr.nlm.nih.gov/condition/dent-disease dentatorubral-pallidoluysian atrophy http://ghr.nlm.nih.gov/condition/dentatorubral-pallidoluysian-atrophy dentinogenesis imperfecta http://ghr.nlm.nih.gov/condition/dentinogenesis-imperfecta Denys-Drash syndrome http://ghr.nlm.nih.gov/condition/denys-drash-syndrome deoxyguanosine kinase deficiency http://ghr.nlm.nih.gov/condition/deoxyguanosine-kinase-deficiency dermatofibrosarcoma protuberans http://ghr.nlm.nih.gov/condition/dermatofibrosarcoma-protuberans desmoid tumor http://ghr.nlm.nih.gov/condition/desmoid-tumor Diamond-Blackfan anemia http://ghr.nlm.nih.gov/condition/diamond-blackfan-anemia diastrophic dysplasia http://ghr.nlm.nih.gov/condition/diastrophic-dysplasia DICER1 syndrome http://ghr.nlm.nih.gov/condition/dicer1-syndrome dihydropyrimidine dehydrogenase deficiency http://ghr.nlm.nih.gov/condition/dihydropyrimidine-dehydrogenase-deficiency distal arthrogryposis type 1 http://ghr.nlm.nih.gov/condition/distal-arthrogryposis-type-1 distal hereditary motor neuropathy, type II http://ghr.nlm.nih.gov/condition/distal-hereditary-motor-neuropathy-type-ii distal hereditary motor neuropathy, type V http://ghr.nlm.nih.gov/condition/distal-hereditary-motor-neuropathy-type-v distal myopathy 2 http://ghr.nlm.nih.gov/condition/distal-myopathy-2 DMD-associated dilated cardiomyopathy http://ghr.nlm.nih.gov/condition/dmd-associated-dilated-cardiomyopathy Donnai-Barrow syndrome http://ghr.nlm.nih.gov/condition/donnai-barrow-syndrome dopa-responsive dystonia http://ghr.nlm.nih.gov/condition/dopa-responsive-dystonia dopamine beta-hydroxylase deficiency http://ghr.nlm.nih.gov/condition/dopamine-beta-hydroxylase-deficiency Dowling-Degos disease http://ghr.nlm.nih.gov/condition/dowling-degos-disease Down syndrome http://ghr.nlm.nih.gov/condition/down-syndrome Duane-radial ray syndrome http://ghr.nlm.nih.gov/condition/duane-radial-ray-syndrome Dubin-Johnson syndrome http://ghr.nlm.nih.gov/condition/dubin-johnson-syndrome Duchenne and Becker muscular dystrophy http://ghr.nlm.nih.gov/condition/duchenne-and-becker-muscular-dystrophy 22q11.2 duplication http://ghr.nlm.nih.gov/condition/22q112-duplication dyserythropoietic anemia and thrombocytopenia http://ghr.nlm.nih.gov/condition/dyserythropoietic-anemia-and-thrombocytopenia dyskeratosis congenita http://ghr.nlm.nih.gov/condition/dyskeratosis-congenita dystrophic epidermolysis bullosa http://ghr.nlm.nih.gov/condition/dystrophic-epidermolysis-bullosa early-onset glaucoma http://ghr.nlm.nih.gov/condition/early-onset-glaucoma early-onset primary dystonia http://ghr.nlm.nih.gov/condition/early-onset-primary-dystonia Ehlers-Danlos syndrome http://ghr.nlm.nih.gov/condition/ehlers-danlos-syndrome Ellis-van Creveld syndrome http://ghr.nlm.nih.gov/condition/ellis-van-creveld-syndrome Emanuel syndrome http://ghr.nlm.nih.gov/condition/emanuel-syndrome Emery-Dreifuss muscular dystrophy http://ghr.nlm.nih.gov/condition/emery-dreifuss-muscular-dystrophy enlarged parietal foramina http://ghr.nlm.nih.gov/condition/enlarged-parietal-foramina epidermal nevus http://ghr.nlm.nih.gov/condition/epidermal-nevus epidermolysis bullosa simplex http://ghr.nlm.nih.gov/condition/epidermolysis-bullosa-simplex epidermolysis bullosa with pyloric atresia http://ghr.nlm.nih.gov/condition/epidermolysis-bullosa-with-pyloric-atresia epidermolytic hyperkeratosis http://ghr.nlm.nih.gov/condition/epidermolytic-hyperkeratosis episodic ataxia http://ghr.nlm.nih.gov/condition/episodic-ataxia erythromelalgia http://ghr.nlm.nih.gov/condition/erythromelalgia esophageal atresia/tracheoesophageal fistula http://ghr.nlm.nih.gov/condition/esophageal-atresia-tracheoesophageal-fistula essential thrombocythemia http://ghr.nlm.nih.gov/condition/essential-thrombocythemia essential tremor http://ghr.nlm.nih.gov/condition/essential-tremor ethylmalonic encephalopathy http://ghr.nlm.nih.gov/condition/ethylmalonic-encephalopathy Ewing sarcoma http://ghr.nlm.nih.gov/condition/ewing-sarcoma Fabry disease http://ghr.nlm.nih.gov/condition/fabry-disease facioscapulohumeral muscular dystrophy http://ghr.nlm.nih.gov/condition/facioscapulohumeral-muscular-dystrophy factor V deficiency http://ghr.nlm.nih.gov/condition/factor-v-deficiency factor V Leiden thrombophilia http://ghr.nlm.nih.gov/condition/factor-v-leiden-thrombophilia familial acute myeloid leukemia with mutated CEBPA http://ghr.nlm.nih.gov/condition/familial-acute-myeloid-leukemia-with-mutated-cebpa familial adenomatous polyposis http://ghr.nlm.nih.gov/condition/familial-adenomatous-polyposis familial atrial fibrillation http://ghr.nlm.nih.gov/condition/familial-atrial-fibrillation familial cold autoinflammatory syndrome http://ghr.nlm.nih.gov/condition/familial-cold-autoinflammatory-syndrome familial cylindromatosis http://ghr.nlm.nih.gov/condition/familial-cylindromatosis familial dysautonomia http://ghr.nlm.nih.gov/condition/familial-dysautonomia familial encephalopathy with neuroserpin inclusion bodies http://ghr.nlm.nih.gov/condition/familial-encephalopathy-with-neuroserpin-inclusion-bodies familial erythrocytosis http://ghr.nlm.nih.gov/condition/familial-erythrocytosis familial exudative vitreoretinopathy http://ghr.nlm.nih.gov/condition/familial-exudative-vitreoretinopathy familial HDL deficiency http://ghr.nlm.nih.gov/condition/familial-hdl-deficiency familial hemiplegic migraine http://ghr.nlm.nih.gov/condition/familial-hemiplegic-migraine familial hemophagocytic lymphohistiocytosis http://ghr.nlm.nih.gov/condition/familial-hemophagocytic-lymphohistiocytosis familial hyperaldosteronism http://ghr.nlm.nih.gov/condition/familial-hyperaldosteronism familial hyperinsulinism http://ghr.nlm.nih.gov/condition/familial-hyperinsulinism familial hypertrophic cardiomyopathy http://ghr.nlm.nih.gov/condition/familial-hypertrophic-cardiomyopathy familial hypobetalipoproteinemia http://ghr.nlm.nih.gov/condition/familial-hypobetalipoproteinemia familial idiopathic basal ganglia calcification http://ghr.nlm.nih.gov/condition/familial-idiopathic-basal-ganglia-calcification familial isolated hyperparathyroidism http://ghr.nlm.nih.gov/condition/familial-isolated-hyperparathyroidism familial lipoprotein lipase deficiency http://ghr.nlm.nih.gov/condition/familial-lipoprotein-lipase-deficiency familial male-limited precocious puberty http://ghr.nlm.nih.gov/condition/familial-male-limited-precocious-puberty familial Mediterranean fever http://ghr.nlm.nih.gov/condition/familial-mediterranean-fever familial osteochondritis dissecans http://ghr.nlm.nih.gov/condition/familial-osteochondritis-dissecans familial paroxysmal kinesigenic dyskinesia http://ghr.nlm.nih.gov/condition/familial-paroxysmal-kinesigenic-dyskinesia familial paroxysmal nonkinesigenic dyskinesia http://ghr.nlm.nih.gov/condition/familial-paroxysmal-nonkinesigenic-dyskinesia familial pityriasis rubra pilaris http://ghr.nlm.nih.gov/condition/familial-pityriasis-rubra-pilaris familial porencephaly http://ghr.nlm.nih.gov/condition/familial-porencephaly familial restrictive cardiomyopathy http://ghr.nlm.nih.gov/condition/familial-restrictive-cardiomyopathy familial thoracic aortic aneurysm and dissection http://ghr.nlm.nih.gov/condition/familial-thoracic-aortic-aneurysm-and-dissection Fanconi anemia http://ghr.nlm.nih.gov/condition/fanconi-anemia Farber lipogranulomatosis http://ghr.nlm.nih.gov/condition/farber-lipogranulomatosis fatty acid hydroxylase-associated neurodegeneration http://ghr.nlm.nih.gov/condition/fatty-acid-hydroxylase-associated-neurodegeneration Feingold syndrome http://ghr.nlm.nih.gov/condition/feingold-syndrome FG syndrome http://ghr.nlm.nih.gov/condition/fg-syndrome fibrodysplasia ossificans progressiva http://ghr.nlm.nih.gov/condition/fibrodysplasia-ossificans-progressiva Floating-Harbor syndrome http://ghr.nlm.nih.gov/condition/floating-harbor-syndrome focal dermal hypoplasia http://ghr.nlm.nih.gov/condition/focal-dermal-hypoplasia focal palmoplantar keratoderma http://ghr.nlm.nih.gov/condition/focal-palmoplantar-keratoderma fragile X-associated primary ovarian insufficiency http://ghr.nlm.nih.gov/condition/fragile-x-associated-primary-ovarian-insufficiency fragile X-associated tremor/ataxia syndrome http://ghr.nlm.nih.gov/condition/fragile-x-associated-tremor-ataxia-syndrome fragile X syndrome http://ghr.nlm.nih.gov/condition/fragile-x-syndrome Frasier syndrome http://ghr.nlm.nih.gov/condition/frasier-syndrome Freeman-Sheldon syndrome http://ghr.nlm.nih.gov/condition/freeman-sheldon-syndrome Friedreich ataxia http://ghr.nlm.nih.gov/condition/friedreich-ataxia frontometaphyseal dysplasia http://ghr.nlm.nih.gov/condition/frontometaphyseal-dysplasia frontotemporal dementia with parkinsonism-17 http://ghr.nlm.nih.gov/condition/frontotemporal-dementia-with-parkinsonism-17 Fryns syndrome http://ghr.nlm.nih.gov/condition/fryns-syndrome Fuchs endothelial dystrophy http://ghr.nlm.nih.gov/condition/fuchs-endothelial-dystrophy fucosidosis http://ghr.nlm.nih.gov/condition/fucosidosis Fukuyama congenital muscular dystrophy http://ghr.nlm.nih.gov/condition/fukuyama-congenital-muscular-dystrophy fumarase deficiency http://ghr.nlm.nih.gov/condition/fumarase-deficiency galactosemia http://ghr.nlm.nih.gov/condition/galactosemia galactosialidosis http://ghr.nlm.nih.gov/condition/galactosialidosis gastrointestinal stromal tumor http://ghr.nlm.nih.gov/condition/gastrointestinal-stromal-tumor Gaucher disease http://ghr.nlm.nih.gov/condition/gaucher-disease geleophysic dysplasia http://ghr.nlm.nih.gov/condition/geleophysic-dysplasia genitopatellar syndrome http://ghr.nlm.nih.gov/condition/genitopatellar-syndrome giant axonal neuropathy http://ghr.nlm.nih.gov/condition/giant-axonal-neuropathy Gilbert syndrome http://ghr.nlm.nih.gov/condition/gilbert-syndrome Gitelman syndrome http://ghr.nlm.nih.gov/condition/gitelman-syndrome glucose-6-phosphate dehydrogenase deficiency http://ghr.nlm.nih.gov/condition/glucose-6-phosphate-dehydrogenase-deficiency glucose-galactose malabsorption http://ghr.nlm.nih.gov/condition/glucose-galactose-malabsorption GLUT1 deficiency syndrome http://ghr.nlm.nih.gov/condition/glut1-deficiency-syndrome glutamate formiminotransferase deficiency http://ghr.nlm.nih.gov/condition/glutamate-formiminotransferase-deficiency glutaric acidemia type I http://ghr.nlm.nih.gov/condition/glutaric-acidemia-type-i glutaric acidemia type II http://ghr.nlm.nih.gov/condition/glutaric-acidemia-type-ii glutathione synthetase deficiency http://ghr.nlm.nih.gov/condition/glutathione-synthetase-deficiency glycine encephalopathy http://ghr.nlm.nih.gov/condition/glycine-encephalopathy glycogen storage disease type I http://ghr.nlm.nih.gov/condition/glycogen-storage-disease-type-i glycogen storage disease type III http://ghr.nlm.nih.gov/condition/glycogen-storage-disease-type-iii glycogen storage disease type IV http://ghr.nlm.nih.gov/condition/glycogen-storage-disease-type-iv glycogen storage disease type IX http://ghr.nlm.nih.gov/condition/glycogen-storage-disease-type-ix glycogen storage disease type V http://ghr.nlm.nih.gov/condition/glycogen-storage-disease-type-v glycogen storage disease type VI http://ghr.nlm.nih.gov/condition/glycogen-storage-disease-type-vi GM1 gangliosidosis http://ghr.nlm.nih.gov/condition/gm1-gangliosidosis GM2-gangliosidosis, AB variant http://ghr.nlm.nih.gov/condition/gm2-gangliosidosis-ab-variant Gorlin syndrome http://ghr.nlm.nih.gov/condition/gorlin-syndrome Greenberg dysplasia http://ghr.nlm.nih.gov/condition/greenberg-dysplasia Greig cephalopolysyndactyly syndrome http://ghr.nlm.nih.gov/condition/greig-cephalopolysyndactyly-syndrome GRN-related frontotemporal dementia http://ghr.nlm.nih.gov/condition/grn-related-frontotemporal-dementia guanidinoacetate methyltransferase deficiency http://ghr.nlm.nih.gov/condition/guanidinoacetate-methyltransferase-deficiency Guillain-Barré syndrome http://ghr.nlm.nih.gov/condition/guillain-barre-syndrome gyrate atrophy of the choroid and retina http://ghr.nlm.nih.gov/condition/gyrate-atrophy-of-the-choroid-and-retina hand-foot-genital syndrome http://ghr.nlm.nih.gov/condition/hand-foot-genital-syndrome harlequin ichthyosis http://ghr.nlm.nih.gov/condition/harlequin-ichthyosis hemochromatosis http://ghr.nlm.nih.gov/condition/hemochromatosis hemophilia http://ghr.nlm.nih.gov/condition/hemophilia hepatic veno-occlusive disease with immunodeficiency http://ghr.nlm.nih.gov/condition/hepatic-veno-occlusive-disease-with-immunodeficiency hereditary angioedema http://ghr.nlm.nih.gov/condition/hereditary-angioedema hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome http://ghr.nlm.nih.gov/condition/hereditary-angiopathy-with-nephropathy-aneurysms-and-muscle-cramps-syndrome hereditary antithrombin deficiency http://ghr.nlm.nih.gov/condition/hereditary-antithrombin-deficiency hereditary cerebral amyloid angiopathy http://ghr.nlm.nih.gov/condition/hereditary-cerebral-amyloid-angiopathy hereditary diffuse leukoencephalopathy with spheroids http://ghr.nlm.nih.gov/condition/hereditary-diffuse-leukoencephalopathy-with-spheroids hereditary folate malabsorption http://ghr.nlm.nih.gov/condition/hereditary-folate-malabsorption hereditary fructose intolerance http://ghr.nlm.nih.gov/condition/hereditary-fructose-intolerance hereditary hemorrhagic telangiectasia http://ghr.nlm.nih.gov/condition/hereditary-hemorrhagic-telangiectasia hereditary hyperekplexia http://ghr.nlm.nih.gov/condition/hereditary-hyperekplexia hereditary hypophosphatemic rickets http://ghr.nlm.nih.gov/condition/hereditary-hypophosphatemic-rickets hereditary leiomyomatosis and renal cell cancer http://ghr.nlm.nih.gov/condition/hereditary-leiomyomatosis-and-renal-cell-cancer hereditary multiple exostoses http://ghr.nlm.nih.gov/condition/hereditary-multiple-exostoses hereditary myopathy with early respiratory failure http://ghr.nlm.nih.gov/condition/hereditary-myopathy-with-early-respiratory-failure hereditary neuralgic amyotrophy http://ghr.nlm.nih.gov/condition/hereditary-neuralgic-amyotrophy hereditary neuropathy with liability to pressure palsies http://ghr.nlm.nih.gov/condition/hereditary-neuropathy-with-liability-to-pressure-palsies hereditary pancreatitis http://ghr.nlm.nih.gov/condition/hereditary-pancreatitis hereditary paraganglioma-pheochromocytoma http://ghr.nlm.nih.gov/condition/hereditary-paraganglioma-pheochromocytoma hereditary sensory and autonomic neuropathy type IE http://ghr.nlm.nih.gov/condition/hereditary-sensory-and-autonomic-neuropathy-type-ie hereditary sensory and autonomic neuropathy type II http://ghr.nlm.nih.gov/condition/hereditary-sensory-and-autonomic-neuropathy-type-ii hereditary sensory and autonomic neuropathy type V http://ghr.nlm.nih.gov/condition/hereditary-sensory-and-autonomic-neuropathy-type-v hereditary sensory neuropathy type 1 http://ghr.nlm.nih.gov/condition/hereditary-sensory-neuropathy-type-1 hereditary spherocytosis http://ghr.nlm.nih.gov/condition/hereditary-spherocytosis Hermansky-Pudlak syndrome http://ghr.nlm.nih.gov/condition/hermansky-pudlak-syndrome hidradenitis suppurativa http://ghr.nlm.nih.gov/condition/hidradenitis-suppurativa Hirschsprung disease http://ghr.nlm.nih.gov/condition/hirschsprung-disease histidinemia http://ghr.nlm.nih.gov/condition/histidinemia holocarboxylase synthetase deficiency http://ghr.nlm.nih.gov/condition/holocarboxylase-synthetase-deficiency Holt-Oram syndrome http://ghr.nlm.nih.gov/condition/holt-oram-syndrome homocystinuria http://ghr.nlm.nih.gov/condition/homocystinuria horizontal gaze palsy with progressive scoliosis http://ghr.nlm.nih.gov/condition/horizontal-gaze-palsy-with-progressive-scoliosis Horner syndrome http://ghr.nlm.nih.gov/condition/horner-syndrome Huntington disease http://ghr.nlm.nih.gov/condition/huntington-disease Huntington disease-like syndrome http://ghr.nlm.nih.gov/condition/huntington-disease-like-syndrome Hutchinson-Gilford progeria syndrome http://ghr.nlm.nih.gov/condition/hutchinson-gilford-progeria-syndrome 3-hydroxy-3-methylglutaryl-CoA lyase deficiency http://ghr.nlm.nih.gov/condition/3-hydroxy-3-methylglutaryl-coa-lyase-deficiency 3-hydroxyacyl-CoA dehydrogenase deficiency http://ghr.nlm.nih.gov/condition/3-hydroxyacyl-coa-dehydrogenase-deficiency 2-hydroxyglutaric aciduria http://ghr.nlm.nih.gov/condition/2-hydroxyglutaric-aciduria 21-hydroxylase deficiency http://ghr.nlm.nih.gov/condition/21-hydroxylase-deficiency hypercholesterolemia http://ghr.nlm.nih.gov/condition/hypercholesterolemia hyperferritinemia-cataract syndrome http://ghr.nlm.nih.gov/condition/hyperferritinemia-cataract-syndrome hyperkalemic periodic paralysis http://ghr.nlm.nih.gov/condition/hyperkalemic-periodic-paralysis hyperlysinemia http://ghr.nlm.nih.gov/condition/hyperlysinemia hypermanganesemia with dystonia, polycythemia, and cirrhosis http://ghr.nlm.nih.gov/condition/hypermanganesemia-with-dystonia-polycythemia-and-cirrhosis hypermethioninemia http://ghr.nlm.nih.gov/condition/hypermethioninemia hyperparathyroidism-jaw tumor syndrome http://ghr.nlm.nih.gov/condition/hyperparathyroidism-jaw-tumor-syndrome hyperphosphatemic familial tumoral calcinosis http://ghr.nlm.nih.gov/condition/hyperphosphatemic-familial-tumoral-calcinosis hyperprolinemia http://ghr.nlm.nih.gov/condition/hyperprolinemia hypochondrogenesis http://ghr.nlm.nih.gov/condition/hypochondrogenesis hypochondroplasia http://ghr.nlm.nih.gov/condition/hypochondroplasia hypohidrotic ectodermal dysplasia http://ghr.nlm.nih.gov/condition/hypohidrotic-ectodermal-dysplasia hypokalemic periodic paralysis http://ghr.nlm.nih.gov/condition/hypokalemic-periodic-paralysis hypomyelination and congenital cataract http://ghr.nlm.nih.gov/condition/hypomyelination-and-congenital-cataract hypophosphatasia http://ghr.nlm.nih.gov/condition/hypophosphatasia hystrix-like ichthyosis with deafness http://ghr.nlm.nih.gov/condition/hystrix-like-ichthyosis-with-deafness idiopathic inflammatory myopathy http://ghr.nlm.nih.gov/condition/idiopathic-inflammatory-myopathy idiopathic pulmonary fibrosis http://ghr.nlm.nih.gov/condition/idiopathic-pulmonary-fibrosis immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome http://ghr.nlm.nih.gov/condition/immune-dysregulation-polyendocrinopathy-enteropathy-x-linked-syndrome inclusion body myopathy 2 http://ghr.nlm.nih.gov/condition/inclusion-body-myopathy-2 inclusion body myopathy with early-onset Paget disease and frontotemporal dementia http://ghr.nlm.nih.gov/condition/inclusion-body-myopathy-with-early-onset-paget-disease-and-frontotemporal-dementia incontinentia pigmenti http://ghr.nlm.nih.gov/condition/incontinentia-pigmenti infantile neuroaxonal dystrophy http://ghr.nlm.nih.gov/condition/infantile-neuroaxonal-dystrophy infantile-onset ascending hereditary spastic paralysis http://ghr.nlm.nih.gov/condition/infantile-onset-ascending-hereditary-spastic-paralysis infantile-onset spinocerebellar ataxia http://ghr.nlm.nih.gov/condition/infantile-onset-spinocerebellar-ataxia infantile systemic hyalinosis http://ghr.nlm.nih.gov/condition/infantile-systemic-hyalinosis inherited thyroxine-binding globulin deficiency http://ghr.nlm.nih.gov/condition/inherited-thyroxine-binding-globulin-deficiency intestinal pseudo-obstruction http://ghr.nlm.nih.gov/condition/intestinal-pseudo-obstruction intrahepatic cholestasis of pregnancy http://ghr.nlm.nih.gov/condition/intrahepatic-cholestasis-of-pregnancy intranuclear rod myopathy http://ghr.nlm.nih.gov/condition/intranuclear-rod-myopathy intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies http://ghr.nlm.nih.gov/condition/intrauterine-growth-restriction-metaphyseal-dysplasia-adrenal-hypoplasia-congenita-and-genital-anomalies IRAK-4 deficiency http://ghr.nlm.nih.gov/condition/irak-4-deficiency isobutyryl-CoA dehydrogenase deficiency http://ghr.nlm.nih.gov/condition/isobutyryl-coa-dehydrogenase-deficiency isodicentric chromosome 15 syndrome http://ghr.nlm.nih.gov/condition/isodicentric-chromosome-15-syndrome isolated Duane retraction syndrome http://ghr.nlm.nih.gov/condition/isolated-duane-retraction-syndrome isolated growth hormone deficiency http://ghr.nlm.nih.gov/condition/isolated-growth-hormone-deficiency isovaleric acidemia http://ghr.nlm.nih.gov/condition/isovaleric-acidemia Jackson-Weiss syndrome http://ghr.nlm.nih.gov/condition/jackson-weiss-syndrome Jacobsen syndrome http://ghr.nlm.nih.gov/condition/jacobsen-syndrome Jervell and Lange-Nielsen syndrome http://ghr.nlm.nih.gov/condition/jervell-and-lange-nielsen-syndrome Job syndrome http://ghr.nlm.nih.gov/condition/job-syndrome Joubert syndrome http://ghr.nlm.nih.gov/condition/joubert-syndrome junctional epidermolysis bullosa http://ghr.nlm.nih.gov/condition/junctional-epidermolysis-bullosa juvenile Batten disease http://ghr.nlm.nih.gov/condition/juvenile-batten-disease juvenile hyaline fibromatosis http://ghr.nlm.nih.gov/condition/juvenile-hyaline-fibromatosis juvenile idiopathic arthritis http://ghr.nlm.nih.gov/condition/juvenile-idiopathic-arthritis juvenile myoclonic epilepsy http://ghr.nlm.nih.gov/condition/juvenile-myoclonic-epilepsy juvenile Paget disease http://ghr.nlm.nih.gov/condition/juvenile-paget-disease juvenile polyposis syndrome http://ghr.nlm.nih.gov/condition/juvenile-polyposis-syndrome juvenile primary lateral sclerosis http://ghr.nlm.nih.gov/condition/juvenile-primary-lateral-sclerosis juvenile primary osteoporosis http://ghr.nlm.nih.gov/condition/juvenile-primary-osteoporosis Kabuki syndrome http://ghr.nlm.nih.gov/condition/kabuki-syndrome Kallmann syndrome http://ghr.nlm.nih.gov/condition/kallmann-syndrome Kawasaki disease http://ghr.nlm.nih.gov/condition/kawasaki-disease Kearns-Sayre syndrome http://ghr.nlm.nih.gov/condition/kearns-sayre-syndrome keratitis-ichthyosis-deafness syndrome http://ghr.nlm.nih.gov/condition/keratitis-ichthyosis-deafness-syndrome Kleefstra syndrome http://ghr.nlm.nih.gov/condition/kleefstra-syndrome Klinefelter syndrome http://ghr.nlm.nih.gov/condition/klinefelter-syndrome Klippel-Feil syndrome http://ghr.nlm.nih.gov/condition/klippel-feil-syndrome Klippel-Trenaunay syndrome http://ghr.nlm.nih.gov/condition/klippel-trenaunay-syndrome Kniest dysplasia http://ghr.nlm.nih.gov/condition/kniest-dysplasia Knobloch syndrome http://ghr.nlm.nih.gov/condition/knobloch-syndrome Koolen-de Vries syndrome http://ghr.nlm.nih.gov/condition/koolen-de-vries-syndrome Krabbe disease http://ghr.nlm.nih.gov/condition/krabbe-disease Kufs disease http://ghr.nlm.nih.gov/condition/kufs-disease L1 syndrome http://ghr.nlm.nih.gov/condition/l1-syndrome lactate dehydrogenase deficiency http://ghr.nlm.nih.gov/condition/lactate-dehydrogenase-deficiency lactose intolerance http://ghr.nlm.nih.gov/condition/lactose-intolerance Lafora progressive myoclonus epilepsy http://ghr.nlm.nih.gov/condition/lafora-progressive-myoclonus-epilepsy Laing distal myopathy http://ghr.nlm.nih.gov/condition/laing-distal-myopathy lamellar ichthyosis http://ghr.nlm.nih.gov/condition/lamellar-ichthyosis Langer-Giedion syndrome http://ghr.nlm.nih.gov/condition/langer-giedion-syndrome Langer mesomelic dysplasia http://ghr.nlm.nih.gov/condition/langer-mesomelic-dysplasia Langerhans cell histiocytosis http://ghr.nlm.nih.gov/condition/langerhans-cell-histiocytosis Larsen syndrome http://ghr.nlm.nih.gov/condition/larsen-syndrome lattice corneal dystrophy type I http://ghr.nlm.nih.gov/condition/lattice-corneal-dystrophy-type-i lattice corneal dystrophy type II http://ghr.nlm.nih.gov/condition/lattice-corneal-dystrophy-type-ii Leber congenital amaurosis http://ghr.nlm.nih.gov/condition/leber-congenital-amaurosis Leber hereditary optic neuropathy http://ghr.nlm.nih.gov/condition/leber-hereditary-optic-neuropathy Legius syndrome http://ghr.nlm.nih.gov/condition/legius-syndrome Leigh syndrome http://ghr.nlm.nih.gov/condition/leigh-syndrome Lennox-Gastaut syndrome http://ghr.nlm.nih.gov/condition/lennox-gastaut-syndrome Lenz microphthalmia syndrome http://ghr.nlm.nih.gov/condition/lenz-microphthalmia-syndrome Léri-Weill dyschondrosteosis http://ghr.nlm.nih.gov/condition/leri-weill-dyschondrosteosis Lesch-Nyhan syndrome http://ghr.nlm.nih.gov/condition/lesch-nyhan-syndrome leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation http://ghr.nlm.nih.gov/condition/leukoencephalopathy-with-brainstem-and-spinal-cord-involvement-and-lactate-elevation leukoencephalopathy with vanishing white matter http://ghr.nlm.nih.gov/condition/leukoencephalopathy-with-vanishing-white-matter Leydig cell hypoplasia http://ghr.nlm.nih.gov/condition/leydig-cell-hypoplasia Li-Fraumeni syndrome http://ghr.nlm.nih.gov/condition/li-fraumeni-syndrome Liddle syndrome http://ghr.nlm.nih.gov/condition/liddle-syndrome limb-girdle muscular dystrophy http://ghr.nlm.nih.gov/condition/limb-girdle-muscular-dystrophy Loeys-Dietz syndrome http://ghr.nlm.nih.gov/condition/loeys-dietz-syndrome long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency http://ghr.nlm.nih.gov/condition/long-chain-3-hydroxyacyl-coa-dehydrogenase-deficiency Lowe syndrome http://ghr.nlm.nih.gov/condition/lowe-syndrome Lujan syndrome http://ghr.nlm.nih.gov/condition/lujan-syndrome lymphangioleiomyomatosis http://ghr.nlm.nih.gov/condition/lymphangioleiomyomatosis lymphedema-distichiasis syndrome http://ghr.nlm.nih.gov/condition/lymphedema-distichiasis-syndrome Lynch syndrome http://ghr.nlm.nih.gov/condition/lynch-syndrome lysinuric protein intolerance http://ghr.nlm.nih.gov/condition/lysinuric-protein-intolerance 3-M syndrome http://ghr.nlm.nih.gov/condition/3-m-syndrome Maffucci syndrome http://ghr.nlm.nih.gov/condition/maffucci-syndrome Mainzer-Saldino syndrome http://ghr.nlm.nih.gov/condition/mainzer-saldino-syndrome Majeed syndrome http://ghr.nlm.nih.gov/condition/majeed-syndrome malignant hyperthermia http://ghr.nlm.nih.gov/condition/malignant-hyperthermia malonyl-CoA decarboxylase deficiency http://ghr.nlm.nih.gov/condition/malonyl-coa-decarboxylase-deficiency Manitoba oculotrichoanal syndrome http://ghr.nlm.nih.gov/condition/manitoba-oculotrichoanal-syndrome mannose-binding lectin deficiency http://ghr.nlm.nih.gov/condition/mannose-binding-lectin-deficiency maple syrup urine disease http://ghr.nlm.nih.gov/condition/maple-syrup-urine-disease Marfan syndrome http://ghr.nlm.nih.gov/condition/marfan-syndrome Marinesco-Sjögren syndrome http://ghr.nlm.nih.gov/condition/marinesco-sjogren-syndrome maternally inherited diabetes and deafness http://ghr.nlm.nih.gov/condition/maternally-inherited-diabetes-and-deafness Mayer-Rokitansky-Küster-Hauser syndrome http://ghr.nlm.nih.gov/condition/mayer-rokitansky-kuster-hauser-syndrome McCune-Albright syndrome http://ghr.nlm.nih.gov/condition/mccune-albright-syndrome McKusick-Kaufman syndrome http://ghr.nlm.nih.gov/condition/mckusick-kaufman-syndrome McLeod neuroacanthocytosis syndrome http://ghr.nlm.nih.gov/condition/mcleod-neuroacanthocytosis-syndrome Meckel syndrome http://ghr.nlm.nih.gov/condition/meckel-syndrome MECP2 duplication syndrome http://ghr.nlm.nih.gov/condition/mecp2-duplication-syndrome MECP2-related severe neonatal encephalopathy http://ghr.nlm.nih.gov/condition/mecp2-related-severe-neonatal-encephalopathy medium-chain acyl-CoA dehydrogenase deficiency http://ghr.nlm.nih.gov/condition/medium-chain-acyl-coa-dehydrogenase-deficiency Meesmann corneal dystrophy http://ghr.nlm.nih.gov/condition/meesmann-corneal-dystrophy megalencephalic leukoencephalopathy with subcortical cysts http://ghr.nlm.nih.gov/condition/megalencephalic-leukoencephalopathy-with-subcortical-cysts Meige lymphedema http://ghr.nlm.nih.gov/condition/meige-lymphedema Melnick-Needles syndrome http://ghr.nlm.nih.gov/condition/melnick-needles-syndrome Ménière disease http://ghr.nlm.nih.gov/condition/meniere-disease Menkes syndrome http://ghr.nlm.nih.gov/condition/menkes-syndrome metachromatic leukodystrophy http://ghr.nlm.nih.gov/condition/metachromatic-leukodystrophy metatropic dysplasia http://ghr.nlm.nih.gov/condition/metatropic-dysplasia methemoglobinemia, beta-globin type http://ghr.nlm.nih.gov/condition/methemoglobinemia-beta-globin-type 2-methylbutyryl-CoA dehydrogenase deficiency http://ghr.nlm.nih.gov/condition/2-methylbutyryl-coa-dehydrogenase-deficiency 3-methylcrotonyl-CoA carboxylase deficiency http://ghr.nlm.nih.gov/condition/3-methylcrotonyl-coa-carboxylase-deficiency 3-methylglutaconic aciduria http://ghr.nlm.nih.gov/condition/3-methylglutaconic-aciduria methylmalonic acidemia http://ghr.nlm.nih.gov/condition/methylmalonic-acidemia mevalonate kinase deficiency http://ghr.nlm.nih.gov/condition/mevalonate-kinase-deficiency microcephalic osteodysplastic primordial dwarfism type II http://ghr.nlm.nih.gov/condition/microcephalic-osteodysplastic-primordial-dwarfism-type-ii 1q21.1 microdeletion http://ghr.nlm.nih.gov/condition/1q211-microdeletion 9q22.3 microdeletion http://ghr.nlm.nih.gov/condition/9q223-microdeletion 15q13.3 microdeletion http://ghr.nlm.nih.gov/condition/15q133-microdeletion 15q24 microdeletion http://ghr.nlm.nih.gov/condition/15q24-microdeletion microphthalmia http://ghr.nlm.nih.gov/condition/microphthalmia microphthalmia with linear skin defects syndrome http://ghr.nlm.nih.gov/condition/microphthalmia-with-linear-skin-defects-syndrome Miller-Dieker syndrome http://ghr.nlm.nih.gov/condition/miller-dieker-syndrome Miller syndrome http://ghr.nlm.nih.gov/condition/miller-syndrome Milroy disease http://ghr.nlm.nih.gov/condition/milroy-disease mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes http://ghr.nlm.nih.gov/condition/mitochondrial-encephalomyopathy-lactic-acidosis-and-stroke-like-episodes mitochondrial neurogastrointestinal encephalopathy disease http://ghr.nlm.nih.gov/condition/mitochondrial-neurogastrointestinal-encephalopathy-disease mitochondrial trifunctional protein deficiency http://ghr.nlm.nih.gov/condition/mitochondrial-trifunctional-protein-deficiency Moebius syndrome http://ghr.nlm.nih.gov/condition/moebius-syndrome monilethrix http://ghr.nlm.nih.gov/condition/monilethrix Mowat-Wilson syndrome http://ghr.nlm.nih.gov/condition/mowat-wilson-syndrome MPV17-related hepatocerebral mitochondrial DNA depletion syndrome http://ghr.nlm.nih.gov/condition/mpv17-related-hepatocerebral-mitochondrial-dna-depletion-syndrome Muckle-Wells syndrome http://ghr.nlm.nih.gov/condition/muckle-wells-syndrome mucolipidosis II alpha/beta http://ghr.nlm.nih.gov/condition/mucolipidosis-ii-alpha-beta mucolipidosis III alpha/beta http://ghr.nlm.nih.gov/condition/mucolipidosis-iii-alpha-beta mucolipidosis III gamma http://ghr.nlm.nih.gov/condition/mucolipidosis-iii-gamma mucolipidosis type IV http://ghr.nlm.nih.gov/condition/mucolipidosis-type-iv mucopolysaccharidosis type I http://ghr.nlm.nih.gov/condition/mucopolysaccharidosis-type-i mucopolysaccharidosis type II http://ghr.nlm.nih.gov/condition/mucopolysaccharidosis-type-ii mucopolysaccharidosis type III http://ghr.nlm.nih.gov/condition/mucopolysaccharidosis-type-iii mucopolysaccharidosis type IV http://ghr.nlm.nih.gov/condition/mucopolysaccharidosis-type-iv mucopolysaccharidosis type VI http://ghr.nlm.nih.gov/condition/mucopolysaccharidosis-type-vi mucopolysaccharidosis type VII http://ghr.nlm.nih.gov/condition/mucopolysaccharidosis-type-vii Muenke syndrome http://ghr.nlm.nih.gov/condition/muenke-syndrome multiminicore disease http://ghr.nlm.nih.gov/condition/multiminicore-disease multiple cutaneous and mucosal venous malformations http://ghr.nlm.nih.gov/condition/multiple-cutaneous-and-mucosal-venous-malformations multiple endocrine neoplasia http://ghr.nlm.nih.gov/condition/multiple-endocrine-neoplasia multiple epiphyseal dysplasia http://ghr.nlm.nih.gov/condition/multiple-epiphyseal-dysplasia multiple familial trichoepithelioma http://ghr.nlm.nih.gov/condition/multiple-familial-trichoepithelioma multiple lentigines syndrome http://ghr.nlm.nih.gov/condition/multiple-lentigines-syndrome multiple pterygium syndrome http://ghr.nlm.nih.gov/condition/multiple-pterygium-syndrome multiple sclerosis http://ghr.nlm.nih.gov/condition/multiple-sclerosis multiple system atrophy http://ghr.nlm.nih.gov/condition/multiple-system-atrophy myasthenia gravis http://ghr.nlm.nih.gov/condition/myasthenia-gravis mycosis fungoides http://ghr.nlm.nih.gov/condition/mycosis-fungoides MYH9-related disorder http://ghr.nlm.nih.gov/condition/myh9-related-disorder Myhre syndrome http://ghr.nlm.nih.gov/condition/myhre-syndrome myoclonic epilepsy myopathy sensory ataxia http://ghr.nlm.nih.gov/condition/myoclonic-epilepsy-myopathy-sensory-ataxia myoclonic epilepsy with ragged-red fibers http://ghr.nlm.nih.gov/condition/myoclonic-epilepsy-with-ragged-red-fibers myoclonus-dystonia http://ghr.nlm.nih.gov/condition/myoclonus-dystonia myofibrillar myopathy http://ghr.nlm.nih.gov/condition/myofibrillar-myopathy myopathy with deficiency of iron-sulfur cluster assembly enzyme http://ghr.nlm.nih.gov/condition/myopathy-with-deficiency-of-iron-sulfur-cluster-assembly-enzyme myosin storage myopathy http://ghr.nlm.nih.gov/condition/myosin-storage-myopathy myostatin-related muscle hypertrophy http://ghr.nlm.nih.gov/condition/myostatin-related-muscle-hypertrophy myotonia congenita http://ghr.nlm.nih.gov/condition/myotonia-congenita myotonic dystrophy http://ghr.nlm.nih.gov/condition/myotonic-dystrophy N-acetylglutamate synthase deficiency http://ghr.nlm.nih.gov/condition/n-acetylglutamate-synthase-deficiency Nager syndrome http://ghr.nlm.nih.gov/condition/nager-syndrome nail-patella syndrome http://ghr.nlm.nih.gov/condition/nail-patella-syndrome narcolepsy http://ghr.nlm.nih.gov/condition/narcolepsy nemaline myopathy http://ghr.nlm.nih.gov/condition/nemaline-myopathy neonatal onset multisystem inflammatory disease http://ghr.nlm.nih.gov/condition/neonatal-onset-multisystem-inflammatory-disease nephrogenic diabetes insipidus http://ghr.nlm.nih.gov/condition/nephrogenic-diabetes-insipidus neuroblastoma http://ghr.nlm.nih.gov/condition/neuroblastoma neuroferritinopathy http://ghr.nlm.nih.gov/condition/neuroferritinopathy neurofibromatosis type 1 http://ghr.nlm.nih.gov/condition/neurofibromatosis-type-1 neurofibromatosis type 2 http://ghr.nlm.nih.gov/condition/neurofibromatosis-type-2 neurohypophyseal diabetes insipidus http://ghr.nlm.nih.gov/condition/neurohypophyseal-diabetes-insipidus neuromyelitis optica http://ghr.nlm.nih.gov/condition/neuromyelitis-optica neuropathy, ataxia, and retinitis pigmentosa http://ghr.nlm.nih.gov/condition/neuropathy-ataxia-and-retinitis-pigmentosa neutral lipid storage disease with myopathy http://ghr.nlm.nih.gov/condition/neutral-lipid-storage-disease-with-myopathy Niemann-Pick disease http://ghr.nlm.nih.gov/condition/niemann-pick-disease Nijmegen breakage syndrome http://ghr.nlm.nih.gov/condition/nijmegen-breakage-syndrome nonbullous congenital ichthyosiform erythroderma http://ghr.nlm.nih.gov/condition/nonbullous-congenital-ichthyosiform-erythroderma nonsyndromic deafness http://ghr.nlm.nih.gov/condition/nonsyndromic-deafness nonsyndromic holoprosencephaly http://ghr.nlm.nih.gov/condition/nonsyndromic-holoprosencephaly nonsyndromic paraganglioma http://ghr.nlm.nih.gov/condition/nonsyndromic-paraganglioma Noonan syndrome http://ghr.nlm.nih.gov/condition/noonan-syndrome Norrie disease http://ghr.nlm.nih.gov/condition/norrie-disease North American Indian childhood cirrhosis http://ghr.nlm.nih.gov/condition/north-american-indian-childhood-cirrhosis Ochoa syndrome http://ghr.nlm.nih.gov/condition/ochoa-syndrome ocular albinism http://ghr.nlm.nih.gov/condition/ocular-albinism oculocutaneous albinism http://ghr.nlm.nih.gov/condition/oculocutaneous-albinism oculodentodigital dysplasia http://ghr.nlm.nih.gov/condition/oculodentodigital-dysplasia oculofaciocardiodental syndrome http://ghr.nlm.nih.gov/condition/oculofaciocardiodental-syndrome oculopharyngeal muscular dystrophy http://ghr.nlm.nih.gov/condition/oculopharyngeal-muscular-dystrophy Ohdo syndrome, Maat-Kievit-Brunner type http://ghr.nlm.nih.gov/condition/ohdo-syndrome-maat-kievit-brunner-type Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant http://ghr.nlm.nih.gov/condition/ohdo-syndrome-say-barber-biesecker-young-simpson-variant Opitz G/BBB syndrome http://ghr.nlm.nih.gov/condition/opitz-g-bbb-syndrome optic atrophy type 1 http://ghr.nlm.nih.gov/condition/optic-atrophy-type-1 oral-facial-digital syndrome http://ghr.nlm.nih.gov/condition/oral-facial-digital-syndrome ornithine transcarbamylase deficiency http://ghr.nlm.nih.gov/condition/ornithine-transcarbamylase-deficiency ornithine translocase deficiency http://ghr.nlm.nih.gov/condition/ornithine-translocase-deficiency osteogenesis imperfecta http://ghr.nlm.nih.gov/condition/osteogenesis-imperfecta osteopetrosis http://ghr.nlm.nih.gov/condition/osteopetrosis osteoporosis-pseudoglioma syndrome http://ghr.nlm.nih.gov/condition/osteoporosis-pseudoglioma-syndrome otopalatodigital syndrome type 1 http://ghr.nlm.nih.gov/condition/otopalatodigital-syndrome-type-1 otopalatodigital syndrome type 2 http://ghr.nlm.nih.gov/condition/otopalatodigital-syndrome-type-2 otospondylomegaepiphyseal dysplasia http://ghr.nlm.nih.gov/condition/otospondylomegaepiphyseal-dysplasia pachyonychia congenita http://ghr.nlm.nih.gov/condition/pachyonychia-congenita Paget disease of bone http://ghr.nlm.nih.gov/condition/paget-disease-of-bone Pallister-Hall syndrome http://ghr.nlm.nih.gov/condition/pallister-hall-syndrome Pallister-Killian mosaic syndrome http://ghr.nlm.nih.gov/condition/pallister-killian-mosaic-syndrome palmoplantar keratoderma with deafness http://ghr.nlm.nih.gov/condition/palmoplantar-keratoderma-with-deafness pantothenate kinase-associated neurodegeneration http://ghr.nlm.nih.gov/condition/pantothenate-kinase-associated-neurodegeneration paramyotonia congenita http://ghr.nlm.nih.gov/condition/paramyotonia-congenita Parkes Weber syndrome http://ghr.nlm.nih.gov/condition/parkes-weber-syndrome Parkinson disease http://ghr.nlm.nih.gov/condition/parkinson-disease paroxysmal extreme pain disorder http://ghr.nlm.nih.gov/condition/paroxysmal-extreme-pain-disorder paroxysmal nocturnal hemoglobinuria http://ghr.nlm.nih.gov/condition/paroxysmal-nocturnal-hemoglobinuria PDGFRA-associated chronic eosinophilic leukemia http://ghr.nlm.nih.gov/condition/pdgfra-associated-chronic-eosinophilic-leukemia PDGFRB-associated chronic eosinophilic leukemia http://ghr.nlm.nih.gov/condition/pdgfrb-associated-chronic-eosinophilic-leukemia Pearson marrow-pancreas syndrome http://ghr.nlm.nih.gov/condition/pearson-marrow-pancreas-syndrome Pelizaeus-Merzbacher disease http://ghr.nlm.nih.gov/condition/pelizaeus-merzbacher-disease Pendred syndrome http://ghr.nlm.nih.gov/condition/pendred-syndrome periventricular heterotopia http://ghr.nlm.nih.gov/condition/periventricular-heterotopia permanent neonatal diabetes mellitus http://ghr.nlm.nih.gov/condition/permanent-neonatal-diabetes-mellitus Perry syndrome http://ghr.nlm.nih.gov/condition/perry-syndrome persistent Müllerian duct syndrome http://ghr.nlm.nih.gov/condition/persistent-mullerian-duct-syndrome Peters plus syndrome http://ghr.nlm.nih.gov/condition/peters-plus-syndrome Peutz-Jeghers syndrome http://ghr.nlm.nih.gov/condition/peutz-jeghers-syndrome Pfeiffer syndrome http://ghr.nlm.nih.gov/condition/pfeiffer-syndrome phenylketonuria http://ghr.nlm.nih.gov/condition/phenylketonuria phosphoglycerate kinase deficiency http://ghr.nlm.nih.gov/condition/phosphoglycerate-kinase-deficiency phosphoglycerate mutase deficiency http://ghr.nlm.nih.gov/condition/phosphoglycerate-mutase-deficiency phosphoribosylpyrophosphate synthetase superactivity http://ghr.nlm.nih.gov/condition/phosphoribosylpyrophosphate-synthetase-superactivity piebaldism http://ghr.nlm.nih.gov/condition/piebaldism pilomatricoma http://ghr.nlm.nih.gov/condition/pilomatricoma Pitt-Hopkins syndrome http://ghr.nlm.nih.gov/condition/pitt-hopkins-syndrome platyspondylic lethal skeletal dysplasia, Torrance type http://ghr.nlm.nih.gov/condition/platyspondylic-lethal-skeletal-dysplasia-torrance-type Poland syndrome http://ghr.nlm.nih.gov/condition/poland-syndrome polycystic kidney disease http://ghr.nlm.nih.gov/condition/polycystic-kidney-disease polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy http://ghr.nlm.nih.gov/condition/polycystic-lipomembranous-osteodysplasia-with-sclerosing-leukoencephalopathy polycythemia vera http://ghr.nlm.nih.gov/condition/polycythemia-vera polymicrogyria http://ghr.nlm.nih.gov/condition/polymicrogyria Pompe disease http://ghr.nlm.nih.gov/condition/pompe-disease pontocerebellar hypoplasia http://ghr.nlm.nih.gov/condition/pontocerebellar-hypoplasia popliteal pterygium syndrome http://ghr.nlm.nih.gov/condition/popliteal-pterygium-syndrome porphyria http://ghr.nlm.nih.gov/condition/porphyria potassium-aggravated myotonia http://ghr.nlm.nih.gov/condition/potassium-aggravated-myotonia Potocki-Shaffer syndrome http://ghr.nlm.nih.gov/condition/potocki-shaffer-syndrome PPM-X syndrome http://ghr.nlm.nih.gov/condition/ppm-x-syndrome Prader-Willi syndrome http://ghr.nlm.nih.gov/condition/prader-willi-syndrome PRICKLE1-related progressive myoclonus epilepsy with ataxia http://ghr.nlm.nih.gov/condition/prickle1-related-progressive-myoclonus-epilepsy-with-ataxia primary carnitine deficiency http://ghr.nlm.nih.gov/condition/primary-carnitine-deficiency primary ciliary dyskinesia http://ghr.nlm.nih.gov/condition/primary-ciliary-dyskinesia primary hyperoxaluria http://ghr.nlm.nih.gov/condition/primary-hyperoxaluria primary myelofibrosis http://ghr.nlm.nih.gov/condition/primary-myelofibrosis primary sclerosing cholangitis http://ghr.nlm.nih.gov/condition/primary-sclerosing-cholangitis primary spontaneous pneumothorax http://ghr.nlm.nih.gov/condition/primary-spontaneous-pneumothorax prion disease http://ghr.nlm.nih.gov/condition/prion-disease progressive external ophthalmoplegia http://ghr.nlm.nih.gov/condition/progressive-external-ophthalmoplegia progressive familial intrahepatic cholestasis http://ghr.nlm.nih.gov/condition/progressive-familial-intrahepatic-cholestasis progressive osseous heteroplasia http://ghr.nlm.nih.gov/condition/progressive-osseous-heteroplasia progressive pseudorheumatoid dysplasia http://ghr.nlm.nih.gov/condition/progressive-pseudorheumatoid-dysplasia progressive supranuclear palsy http://ghr.nlm.nih.gov/condition/progressive-supranuclear-palsy prolidase deficiency http://ghr.nlm.nih.gov/condition/prolidase-deficiency propionic acidemia http://ghr.nlm.nih.gov/condition/propionic-acidemia protein C deficiency http://ghr.nlm.nih.gov/condition/protein-c-deficiency protein S deficiency http://ghr.nlm.nih.gov/condition/protein-s-deficiency Proteus syndrome http://ghr.nlm.nih.gov/condition/proteus-syndrome prothrombin deficiency http://ghr.nlm.nih.gov/condition/prothrombin-deficiency prothrombin thrombophilia http://ghr.nlm.nih.gov/condition/prothrombin-thrombophilia pseudoachondroplasia http://ghr.nlm.nih.gov/condition/pseudoachondroplasia pseudocholinesterase deficiency http://ghr.nlm.nih.gov/condition/pseudocholinesterase-deficiency pseudohypoaldosteronism type 1 http://ghr.nlm.nih.gov/condition/pseudohypoaldosteronism-type-1 pseudohypoaldosteronism type 2 http://ghr.nlm.nih.gov/condition/pseudohypoaldosteronism-type-2 pseudoxanthoma elasticum http://ghr.nlm.nih.gov/condition/pseudoxanthoma-elasticum psoriatic arthritis http://ghr.nlm.nih.gov/condition/psoriatic-arthritis pulmonary arterial hypertension http://ghr.nlm.nih.gov/condition/pulmonary-arterial-hypertension purine nucleoside phosphorylase deficiency http://ghr.nlm.nih.gov/condition/purine-nucleoside-phosphorylase-deficiency pyridoxal 5'-phosphate-dependent epilepsy http://ghr.nlm.nih.gov/condition/pyridoxal-5-phosphate-dependent-epilepsy pyridoxine-dependent epilepsy http://ghr.nlm.nih.gov/condition/pyridoxine-dependent-epilepsy pyruvate carboxylase deficiency http://ghr.nlm.nih.gov/condition/pyruvate-carboxylase-deficiency pyruvate dehydrogenase deficiency http://ghr.nlm.nih.gov/condition/pyruvate-dehydrogenase-deficiency pyruvate kinase deficiency http://ghr.nlm.nih.gov/condition/pyruvate-kinase-deficiency rapid-onset dystonia parkinsonism http://ghr.nlm.nih.gov/condition/rapid-onset-dystonia-parkinsonism recombinant 8 syndrome http://ghr.nlm.nih.gov/condition/recombinant-8-syndrome Refsum disease http://ghr.nlm.nih.gov/condition/refsum-disease 6q24-related transient neonatal diabetes mellitus http://ghr.nlm.nih.gov/condition/6q24-related-transient-neonatal-diabetes-mellitus REN-related kidney disease http://ghr.nlm.nih.gov/condition/ren-related-kidney-disease renal coloboma syndrome http://ghr.nlm.nih.gov/condition/renal-coloboma-syndrome Renpenning syndrome http://ghr.nlm.nih.gov/condition/renpenning-syndrome retinitis pigmentosa http://ghr.nlm.nih.gov/condition/retinitis-pigmentosa retinoblastoma http://ghr.nlm.nih.gov/condition/retinoblastoma Rett syndrome http://ghr.nlm.nih.gov/condition/rett-syndrome rhizomelic chondrodysplasia punctata http://ghr.nlm.nih.gov/condition/rhizomelic-chondrodysplasia-punctata ring chromosome 14 syndrome http://ghr.nlm.nih.gov/condition/ring-chromosome-14-syndrome ring chromosome 20 syndrome http://ghr.nlm.nih.gov/condition/ring-chromosome-20-syndrome Roberts syndrome http://ghr.nlm.nih.gov/condition/roberts-syndrome Robinow syndrome http://ghr.nlm.nih.gov/condition/robinow-syndrome Romano-Ward syndrome http://ghr.nlm.nih.gov/condition/romano-ward-syndrome Rothmund-Thomson Syndrome http://ghr.nlm.nih.gov/condition/rothmund-thomson-syndrome Rotor syndrome http://ghr.nlm.nih.gov/condition/rotor-syndrome Rubinstein-Taybi syndrome http://ghr.nlm.nih.gov/condition/rubinstein-taybi-syndrome Russell-Silver syndrome http://ghr.nlm.nih.gov/condition/russell-silver-syndrome SADDAN http://ghr.nlm.nih.gov/condition/saddan Saethre-Chotzen syndrome http://ghr.nlm.nih.gov/condition/saethre-chotzen-syndrome Salih myopathy http://ghr.nlm.nih.gov/condition/salih-myopathy Sandhoff disease http://ghr.nlm.nih.gov/condition/sandhoff-disease Schimke immuno-osseous dysplasia http://ghr.nlm.nih.gov/condition/schimke-immuno-osseous-dysplasia Schindler disease http://ghr.nlm.nih.gov/condition/schindler-disease Schinzel-Giedion syndrome http://ghr.nlm.nih.gov/condition/schinzel-giedion-syndrome Senior-Løken syndrome http://ghr.nlm.nih.gov/condition/senior-loken-syndrome sensorineural deafness and male infertility http://ghr.nlm.nih.gov/condition/sensorineural-deafness-and-male-infertility sepiapterin reductase deficiency http://ghr.nlm.nih.gov/condition/sepiapterin-reductase-deficiency septo-optic dysplasia http://ghr.nlm.nih.gov/condition/septo-optic-dysplasia severe congenital neutropenia http://ghr.nlm.nih.gov/condition/severe-congenital-neutropenia Sézary syndrome http://ghr.nlm.nih.gov/condition/sezary-syndrome short-chain acyl-CoA dehydrogenase deficiency http://ghr.nlm.nih.gov/condition/short-chain-acyl-coa-dehydrogenase-deficiency short QT syndrome http://ghr.nlm.nih.gov/condition/short-qt-syndrome Shprintzen-Goldberg syndrome http://ghr.nlm.nih.gov/condition/shprintzen-goldberg-syndrome Shwachman-Diamond syndrome http://ghr.nlm.nih.gov/condition/shwachman-diamond-syndrome sialic acid storage disease http://ghr.nlm.nih.gov/condition/sialic-acid-storage-disease sialidosis http://ghr.nlm.nih.gov/condition/sialidosis sialuria http://ghr.nlm.nih.gov/condition/sialuria sickle cell disease http://ghr.nlm.nih.gov/condition/sickle-cell-disease Silver syndrome http://ghr.nlm.nih.gov/condition/silver-syndrome Simpson-Golabi-Behmel syndrome http://ghr.nlm.nih.gov/condition/simpson-golabi-behmel-syndrome sitosterolemia http://ghr.nlm.nih.gov/condition/sitosterolemia Sjögren-Larsson syndrome http://ghr.nlm.nih.gov/condition/sjogren-larsson-syndrome small fiber neuropathy http://ghr.nlm.nih.gov/condition/small-fiber-neuropathy Smith-Lemli-Opitz syndrome http://ghr.nlm.nih.gov/condition/smith-lemli-opitz-syndrome Smith-Magenis syndrome http://ghr.nlm.nih.gov/condition/smith-magenis-syndrome SOST-related sclerosing bone dysplasia http://ghr.nlm.nih.gov/condition/sost-related-sclerosing-bone-dysplasia Sotos syndrome http://ghr.nlm.nih.gov/condition/sotos-syndrome SOX2 anophthalmia syndrome http://ghr.nlm.nih.gov/condition/sox2-anophthalmia-syndrome spastic paraplegia type 2 http://ghr.nlm.nih.gov/condition/spastic-paraplegia-type-2 spastic paraplegia type 3A http://ghr.nlm.nih.gov/condition/spastic-paraplegia-type-3a spastic paraplegia type 4 http://ghr.nlm.nih.gov/condition/spastic-paraplegia-type-4 spastic paraplegia type 7 http://ghr.nlm.nih.gov/condition/spastic-paraplegia-type-7 spastic paraplegia type 8 http://ghr.nlm.nih.gov/condition/spastic-paraplegia-type-8 spastic paraplegia type 11 http://ghr.nlm.nih.gov/condition/spastic-paraplegia-type-11 spina bifida http://ghr.nlm.nih.gov/condition/spina-bifida spinal and bulbar muscular atrophy http://ghr.nlm.nih.gov/condition/spinal-and-bulbar-muscular-atrophy spinal muscular atrophy http://ghr.nlm.nih.gov/condition/spinal-muscular-atrophy spinal muscular atrophy with respiratory distress type 1 http://ghr.nlm.nih.gov/condition/spinal-muscular-atrophy-with-respiratory-distress-type-1 spinocerebellar ataxia type 1 http://ghr.nlm.nih.gov/condition/spinocerebellar-ataxia-type-1 spinocerebellar ataxia type 2 http://ghr.nlm.nih.gov/condition/spinocerebellar-ataxia-type-2 spinocerebellar ataxia type 3 http://ghr.nlm.nih.gov/condition/spinocerebellar-ataxia-type-3 spinocerebellar ataxia type 6 http://ghr.nlm.nih.gov/condition/spinocerebellar-ataxia-type-6 spondylocarpotarsal synostosis syndrome http://ghr.nlm.nih.gov/condition/spondylocarpotarsal-synostosis-syndrome spondylocostal dysostosis http://ghr.nlm.nih.gov/condition/spondylocostal-dysostosis spondyloepimetaphyseal dysplasia, Strudwick type http://ghr.nlm.nih.gov/condition/spondyloepimetaphyseal-dysplasia-strudwick-type spondyloepiphyseal dysplasia congenita http://ghr.nlm.nih.gov/condition/spondyloepiphyseal-dysplasia-congenita spondyloperipheral dysplasia http://ghr.nlm.nih.gov/condition/spondyloperipheral-dysplasia spondylothoracic dysostosis http://ghr.nlm.nih.gov/condition/spondylothoracic-dysostosis Stargardt macular degeneration http://ghr.nlm.nih.gov/condition/stargardt-macular-degeneration steatocystoma multiplex http://ghr.nlm.nih.gov/condition/steatocystoma-multiplex Stickler syndrome http://ghr.nlm.nih.gov/condition/stickler-syndrome succinate-CoA ligase deficiency http://ghr.nlm.nih.gov/condition/succinate-coa-ligase-deficiency succinic semialdehyde dehydrogenase deficiency http://ghr.nlm.nih.gov/condition/succinic-semialdehyde-dehydrogenase-deficiency succinyl-CoA:3-ketoacid CoA transferase deficiency http://ghr.nlm.nih.gov/condition/succinyl-coa3-ketoacid-coa-transferase-deficiency supravalvular aortic stenosis http://ghr.nlm.nih.gov/condition/supravalvular-aortic-stenosis surfactant dysfunction http://ghr.nlm.nih.gov/condition/surfactant-dysfunction Swyer syndrome http://ghr.nlm.nih.gov/condition/swyer-syndrome systemic scleroderma http://ghr.nlm.nih.gov/condition/systemic-scleroderma Tangier disease http://ghr.nlm.nih.gov/condition/tangier-disease tarsal-carpal coalition syndrome http://ghr.nlm.nih.gov/condition/tarsal-carpal-coalition-syndrome task-specific focal dystonia http://ghr.nlm.nih.gov/condition/task-specific-focal-dystonia Tay-Sachs disease http://ghr.nlm.nih.gov/condition/tay-sachs-disease tetra-amelia syndrome http://ghr.nlm.nih.gov/condition/tetra-amelia-syndrome tetrahydrobiopterin deficiency http://ghr.nlm.nih.gov/condition/tetrahydrobiopterin-deficiency tetrasomy 18p http://ghr.nlm.nih.gov/condition/tetrasomy-18p thanatophoric dysplasia http://ghr.nlm.nih.gov/condition/thanatophoric-dysplasia thiamine-responsive megaloblastic anemia syndrome http://ghr.nlm.nih.gov/condition/thiamine-responsive-megaloblastic-anemia-syndrome thrombocytopenia-absent radius syndrome http://ghr.nlm.nih.gov/condition/thrombocytopenia-absent-radius-syndrome thrombotic thrombocytopenic purpura http://ghr.nlm.nih.gov/condition/thrombotic-thrombocytopenic-purpura tibial muscular dystrophy http://ghr.nlm.nih.gov/condition/tibial-muscular-dystrophy Timothy syndrome http://ghr.nlm.nih.gov/condition/timothy-syndrome Tourette syndrome http://ghr.nlm.nih.gov/condition/tourette-syndrome Townes-Brocks Syndrome http://ghr.nlm.nih.gov/condition/townes-brocks-syndrome transthyretin amyloidosis http://ghr.nlm.nih.gov/condition/transthyretin-amyloidosis Treacher Collins syndrome http://ghr.nlm.nih.gov/condition/treacher-collins-syndrome trichothiodystrophy http://ghr.nlm.nih.gov/condition/trichothiodystrophy trimethylaminuria http://ghr.nlm.nih.gov/condition/trimethylaminuria triple A syndrome http://ghr.nlm.nih.gov/condition/triple-a-syndrome triple X syndrome http://ghr.nlm.nih.gov/condition/triple-x-syndrome trisomy 13 http://ghr.nlm.nih.gov/condition/trisomy-13 trisomy 18 http://ghr.nlm.nih.gov/condition/trisomy-18 Troyer syndrome http://ghr.nlm.nih.gov/condition/troyer-syndrome tuberous sclerosis complex http://ghr.nlm.nih.gov/condition/tuberous-sclerosis-complex tumor necrosis factor receptor-associated periodic syndrome http://ghr.nlm.nih.gov/condition/tumor-necrosis-factor-receptor-associated-periodic-syndrome Turner syndrome http://ghr.nlm.nih.gov/condition/turner-syndrome type 1 diabetes http://ghr.nlm.nih.gov/condition/type-1-diabetes tyrosine hydroxylase deficiency http://ghr.nlm.nih.gov/condition/tyrosine-hydroxylase-deficiency tyrosinemia http://ghr.nlm.nih.gov/condition/tyrosinemia ulcerative colitis http://ghr.nlm.nih.gov/condition/ulcerative-colitis Ullrich congenital muscular dystrophy http://ghr.nlm.nih.gov/condition/ullrich-congenital-muscular-dystrophy Unverricht-Lundborg disease http://ghr.nlm.nih.gov/condition/unverricht-lundborg-disease uromodulin-associated kidney disease http://ghr.nlm.nih.gov/condition/uromodulin-associated-kidney-disease Usher syndrome http://ghr.nlm.nih.gov/condition/usher-syndrome UV-sensitive syndrome http://ghr.nlm.nih.gov/condition/uv-sensitive-syndrome VACTERL association http://ghr.nlm.nih.gov/condition/vacterl-association van der Woude syndrome http://ghr.nlm.nih.gov/condition/van-der-woude-syndrome very long-chain acyl-CoA dehydrogenase deficiency http://ghr.nlm.nih.gov/condition/very-long-chain-acyl-coa-dehydrogenase-deficiency vitelliform macular dystrophy http://ghr.nlm.nih.gov/condition/vitelliform-macular-dystrophy vitiligo http://ghr.nlm.nih.gov/condition/vitiligo VLDLR-associated cerebellar hypoplasia http://ghr.nlm.nih.gov/condition/vldlr-associated-cerebellar-hypoplasia Vohwinkel syndrome http://ghr.nlm.nih.gov/condition/vohwinkel-syndrome von Hippel-Lindau syndrome http://ghr.nlm.nih.gov/condition/von-hippel-lindau-syndrome von Willebrand disease http://ghr.nlm.nih.gov/condition/von-willebrand-disease Waardenburg syndrome http://ghr.nlm.nih.gov/condition/waardenburg-syndrome Wagner syndrome http://ghr.nlm.nih.gov/condition/wagner-syndrome Weill-Marchesani syndrome http://ghr.nlm.nih.gov/condition/weill-marchesani-syndrome Weissenbacher-Zweymüller syndrome http://ghr.nlm.nih.gov/condition/weissenbacher-zweymuller-syndrome Werner syndrome http://ghr.nlm.nih.gov/condition/werner-syndrome Weyers acrofacial dysostosis http://ghr.nlm.nih.gov/condition/weyers-acrofacial-dysostosis Williams syndrome http://ghr.nlm.nih.gov/condition/williams-syndrome Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome http://ghr.nlm.nih.gov/condition/wilms-tumor-aniridia-genitourinary-anomalies-and-mental-retardation-syndrome Wilson disease http://ghr.nlm.nih.gov/condition/wilson-disease Wiskott-Aldrich syndrome http://ghr.nlm.nih.gov/condition/wiskott-aldrich-syndrome WNT4 Müllerian aplasia and ovarian dysfunction http://ghr.nlm.nih.gov/condition/wnt4-mullerian-aplasia-and-ovarian-dysfunction Wolf-Hirschhorn syndrome http://ghr.nlm.nih.gov/condition/wolf-hirschhorn-syndrome Wolff-Parkinson-White syndrome http://ghr.nlm.nih.gov/condition/wolff-parkinson-white-syndrome Wolfram syndrome http://ghr.nlm.nih.gov/condition/wolfram-syndrome Wolman disease http://ghr.nlm.nih.gov/condition/wolman-disease X-linked adrenal hypoplasia congenita http://ghr.nlm.nih.gov/condition/x-linked-adrenal-hypoplasia-congenita X-linked adrenoleukodystrophy http://ghr.nlm.nih.gov/condition/x-linked-adrenoleukodystrophy X-linked agammaglobulinemia http://ghr.nlm.nih.gov/condition/x-linked-agammaglobulinemia X-linked chondrodysplasia punctata 1 http://ghr.nlm.nih.gov/condition/x-linked-chondrodysplasia-punctata-1 X-linked chondrodysplasia punctata 2 http://ghr.nlm.nih.gov/condition/x-linked-chondrodysplasia-punctata-2 X-linked congenital stationary night blindness http://ghr.nlm.nih.gov/condition/x-linked-congenital-stationary-night-blindness X-linked creatine deficiency http://ghr.nlm.nih.gov/condition/x-linked-creatine-deficiency X-linked dystonia-parkinsonism http://ghr.nlm.nih.gov/condition/x-linked-dystonia-parkinsonism X-linked hyper IgM syndrome http://ghr.nlm.nih.gov/condition/x-linked-hyper-igm-syndrome X-linked infantile nystagmus http://ghr.nlm.nih.gov/condition/x-linked-infantile-nystagmus X-linked infantile spasm syndrome http://ghr.nlm.nih.gov/condition/x-linked-infantile-spasm-syndrome X-linked juvenile retinoschisis http://ghr.nlm.nih.gov/condition/x-linked-juvenile-retinoschisis X-linked lissencephaly http://ghr.nlm.nih.gov/condition/x-linked-lissencephaly X-linked lymphoproliferative disease http://ghr.nlm.nih.gov/condition/x-linked-lymphoproliferative-disease X-linked myotubular myopathy http://ghr.nlm.nih.gov/condition/x-linked-myotubular-myopathy X-linked severe combined immunodeficiency http://ghr.nlm.nih.gov/condition/x-linked-severe-combined-immunodeficiency X-linked sideroblastic anemia http://ghr.nlm.nih.gov/condition/x-linked-sideroblastic-anemia X-linked sideroblastic anemia and ataxia http://ghr.nlm.nih.gov/condition/x-linked-sideroblastic-anemia-and-ataxia X-linked spondyloepiphyseal dysplasia tarda http://ghr.nlm.nih.gov/condition/x-linked-spondyloepiphyseal-dysplasia-tarda X-linked thrombocytopenia http://ghr.nlm.nih.gov/condition/x-linked-thrombocytopenia xeroderma pigmentosum http://ghr.nlm.nih.gov/condition/xeroderma-pigmentosum 46,XX testicular disorder of sex development http://ghr.nlm.nih.gov/condition/46xx-testicular-disorder-of-sex-development 48,XXYY syndrome http://ghr.nlm.nih.gov/condition/48xxyy-syndrome 47,XYY syndrome http://ghr.nlm.nih.gov/condition/47xyy-syndrome Y chromosome infertility http://ghr.nlm.nih.gov/condition/y-chromosome-infertility ZAP70-related severe combined immunodeficiency http://ghr.nlm.nih.gov/condition/zap70-related-severe-combined-immunodeficiency Zellweger spectrum http://ghr.nlm.nih.gov/condition/zellweger-spectrum Genes http://ghr.nlm.nih.gov/BrowseGenes <a_gene symbol="AAAS" name="achalasia, adrenocortical insufficiency, alacrimia"/> http://ghr.nlm.nih.gov/gene/AAAS <a_gene symbol="AASS" name="aminoadipate-semialdehyde synthase"/> http://ghr.nlm.nih.gov/gene/AASS <a_gene symbol="ABCA1" name="ATP-binding cassette, sub-family A (ABC1), member 1"/> http://ghr.nlm.nih.gov/gene/ABCA1 <a_gene symbol="ABCA3" name="ATP-binding cassette, sub-family A (ABC1), member 3"/> http://ghr.nlm.nih.gov/gene/ABCA3 <a_gene symbol="ABCA4" name="ATP-binding cassette, sub-family A (ABC1), member 4"/> http://ghr.nlm.nih.gov/gene/ABCA4 <a_gene symbol="ABCA12" name="ATP-binding cassette, sub-family A (ABC1), member 12"/> http://ghr.nlm.nih.gov/gene/ABCA12 <a_gene symbol="ABCB4" name="ATP-binding cassette, sub-family B (MDR/TAP), member 4"/> http://ghr.nlm.nih.gov/gene/ABCB4 <a_gene symbol="ABCB7" name="ATP-binding cassette, sub-family B (MDR/TAP), member 7"/> http://ghr.nlm.nih.gov/gene/ABCB7 <a_gene symbol="ABCB11" name="ATP-binding cassette, sub-family B (MDR/TAP), member 11"/> http://ghr.nlm.nih.gov/gene/ABCB11 <a_gene symbol="ABCC2" name="ATP-binding cassette, sub-family C (CFTR/MRP), member 2"/> http://ghr.nlm.nih.gov/gene/ABCC2 <a_gene symbol="ABCC6" name="ATP-binding cassette, sub-family C (CFTR/MRP), member 6"/> http://ghr.nlm.nih.gov/gene/ABCC6 <a_gene symbol="ABCC8" name="ATP-binding cassette, sub-family C (CFTR/MRP), member 8"/> http://ghr.nlm.nih.gov/gene/ABCC8 <a_gene symbol="ABCC9" name="ATP-binding cassette, sub-family C (CFTR/MRP), member 9"/> http://ghr.nlm.nih.gov/gene/ABCC9 <a_gene symbol="ABCD1" name="ATP-binding cassette, sub-family D (ALD), member 1"/> http://ghr.nlm.nih.gov/gene/ABCD1 <a_gene symbol="ABCG5" name="ATP-binding cassette, sub-family G (WHITE), member 5"/> http://ghr.nlm.nih.gov/gene/ABCG5 <a_gene symbol="ABCG8" name="ATP-binding cassette, sub-family G (WHITE), member 8"/> http://ghr.nlm.nih.gov/gene/ABCG8 <a_gene symbol="ABHD5" name="abhydrolase domain containing 5"/> http://ghr.nlm.nih.gov/gene/ABHD5 <a_gene symbol="ACAD8" name="acyl-CoA dehydrogenase family, member 8"/> http://ghr.nlm.nih.gov/gene/ACAD8 <a_gene symbol="ACADM" name="acyl-CoA dehydrogenase, C-4 to C-12 straight chain"/> http://ghr.nlm.nih.gov/gene/ACADM <a_gene symbol="ACADS" name="acyl-CoA dehydrogenase, C-2 to C-3 short chain"/> http://ghr.nlm.nih.gov/gene/ACADS <a_gene symbol="ACADSB" name="acyl-CoA dehydrogenase, short/branched chain"/> http://ghr.nlm.nih.gov/gene/ACADSB <a_gene symbol="ACADVL" name="acyl-CoA dehydrogenase, very long chain"/> http://ghr.nlm.nih.gov/gene/ACADVL <a_gene symbol="ACAN" name="aggrecan"/> http://ghr.nlm.nih.gov/gene/ACAN <a_gene symbol="ACAT1" name="acetyl-CoA acetyltransferase 1"/> http://ghr.nlm.nih.gov/gene/ACAT1 <a_gene symbol="ACSF3" name="acyl-CoA synthetase family member 3"/> http://ghr.nlm.nih.gov/gene/ACSF3 <a_gene symbol="ACTA1" name="actin, alpha 1, skeletal muscle"/> http://ghr.nlm.nih.gov/gene/ACTA1 <a_gene symbol="ACTA2" name="actin, alpha 2, smooth muscle, aorta"/> http://ghr.nlm.nih.gov/gene/ACTA2 <a_gene symbol="ACTB" name="actin, beta"/> http://ghr.nlm.nih.gov/gene/ACTB <a_gene symbol="ACTG1" name="actin, gamma 1"/> http://ghr.nlm.nih.gov/gene/ACTG1 <a_gene symbol="ACVR1" name="activin A receptor, type I"/> http://ghr.nlm.nih.gov/gene/ACVR1 <a_gene symbol="ACVRL1" name="activin A receptor type II-like 1"/> http://ghr.nlm.nih.gov/gene/ACVRL1 <a_gene symbol="ADA" name="adenosine deaminase"/> http://ghr.nlm.nih.gov/gene/ADA <a_gene symbol="ADAMTS2" name="ADAM metallopeptidase with thrombospondin type 1 motif, 2"/> http://ghr.nlm.nih.gov/gene/ADAMTS2 <a_gene symbol="ADAMTS10" name="ADAM metallopeptidase with thrombospondin type 1 motif, 10"/> http://ghr.nlm.nih.gov/gene/ADAMTS10 <a_gene symbol="ADAMTS13" name="ADAM metallopeptidase with thrombospondin type 1 motif, 13"/> http://ghr.nlm.nih.gov/gene/ADAMTS13 <a_gene symbol="ADAMTSL2" name="ADAMTS-like 2"/> http://ghr.nlm.nih.gov/gene/ADAMTSL2 <a_gene symbol="AGA" name="aspartylglucosaminidase"/> http://ghr.nlm.nih.gov/gene/AGA <a_gene symbol="AGL" name="amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase"/> http://ghr.nlm.nih.gov/gene/AGL <a_gene symbol="AGPAT2" name="1-acylglycerol-3-phosphate O-acyltransferase 2"/> http://ghr.nlm.nih.gov/gene/AGPAT2 <a_gene symbol="AGPS" name="alkylglycerone phosphate synthase"/> http://ghr.nlm.nih.gov/gene/AGPS <a_gene symbol="AGXT" name="alanine-glyoxylate aminotransferase"/> http://ghr.nlm.nih.gov/gene/AGXT <a_gene symbol="AHCY" name="adenosylhomocysteinase"/> http://ghr.nlm.nih.gov/gene/AHCY <a_gene symbol="AIRE" name="autoimmune regulator"/> http://ghr.nlm.nih.gov/gene/AIRE <a_gene symbol="AKT1" name="v-akt murine thymoma viral oncogene homolog 1"/> http://ghr.nlm.nih.gov/gene/AKT1 <a_gene symbol="ALAD" name="aminolevulinate dehydratase"/> http://ghr.nlm.nih.gov/gene/ALAD <a_gene symbol="ALAS1" name="aminolevulinate, delta-, synthase 1"/> http://ghr.nlm.nih.gov/gene/ALAS1 <a_gene symbol="ALAS2" name="aminolevulinate, delta-, synthase 2"/> http://ghr.nlm.nih.gov/gene/ALAS2 <a_gene symbol="ALDH3A2" name="aldehyde dehydrogenase 3 family, member A2"/> http://ghr.nlm.nih.gov/gene/ALDH3A2 <a_gene symbol="ALDH4A1" name="aldehyde dehydrogenase 4 family, member A1"/> http://ghr.nlm.nih.gov/gene/ALDH4A1 <a_gene symbol="ALDH5A1" name="aldehyde dehydrogenase 5 family, member A1"/> http://ghr.nlm.nih.gov/gene/ALDH5A1 <a_gene symbol="ALDH7A1" name="aldehyde dehydrogenase 7 family, member A1"/> http://ghr.nlm.nih.gov/gene/ALDH7A1 <a_gene symbol="ALDOB" name="aldolase B, fructose-bisphosphate"/> http://ghr.nlm.nih.gov/gene/ALDOB <a_gene symbol="ALK" name="anaplastic lymphoma receptor tyrosine kinase"/> http://ghr.nlm.nih.gov/gene/ALK <a_gene symbol="ALMS1" name="Alstrom syndrome 1"/> http://ghr.nlm.nih.gov/gene/ALMS1 <a_gene symbol="ALOX12B" name="arachidonate 12-lipoxygenase, 12R type"/> http://ghr.nlm.nih.gov/gene/ALOX12B <a_gene symbol="ALOXE3" name="arachidonate lipoxygenase 3"/> http://ghr.nlm.nih.gov/gene/ALOXE3 <a_gene symbol="ALPL" name="alkaline phosphatase, liver/bone/kidney"/> http://ghr.nlm.nih.gov/gene/ALPL <a_gene symbol="ALS2" name="amyotrophic lateral sclerosis 2 (juvenile)"/> http://ghr.nlm.nih.gov/gene/ALS2 <a_gene symbol="ALX4" name="ALX homeobox 4"/> http://ghr.nlm.nih.gov/gene/ALX4 <a_gene symbol="AMELX" name="amelogenin, X-linked"/> http://ghr.nlm.nih.gov/gene/AMELX <a_gene symbol="AMH" name="anti-Mullerian hormone"/> http://ghr.nlm.nih.gov/gene/AMH <a_gene symbol="AMHR2" name="anti-Mullerian hormone receptor, type II"/> http://ghr.nlm.nih.gov/gene/AMHR2 <a_gene symbol="AMPD1" name="adenosine monophosphate deaminase 1"/> http://ghr.nlm.nih.gov/gene/AMPD1 <a_gene symbol="AMT" name="aminomethyltransferase"/> http://ghr.nlm.nih.gov/gene/AMT <a_gene symbol="ANG" name="angiogenin, ribonuclease, RNase A family, 5"/> http://ghr.nlm.nih.gov/gene/ANG <a_gene symbol="ANK1" name="ankyrin 1, erythrocytic"/> http://ghr.nlm.nih.gov/gene/ANK1 <a_gene symbol="ANK2" name="ankyrin 2, neuronal"/> http://ghr.nlm.nih.gov/gene/ANK2 <a_gene symbol="ANKH" name="ankylosis, progressive homolog (mouse)"/> http://ghr.nlm.nih.gov/gene/ANKH <a_gene symbol="ANO5" name="anoctamin 5"/> http://ghr.nlm.nih.gov/gene/ANO5 <a_gene symbol="ANTXR2" name="anthrax toxin receptor 2"/> http://ghr.nlm.nih.gov/gene/ANTXR2 <a_gene symbol="APC" name="adenomatous polyposis coli"/> http://ghr.nlm.nih.gov/gene/APC <a_gene symbol="APOA1" name="apolipoprotein A-I"/> http://ghr.nlm.nih.gov/gene/APOA1 <a_gene symbol="APOB" name="apolipoprotein B (including Ag(x) antigen)"/> http://ghr.nlm.nih.gov/gene/APOB <a_gene symbol="APOE" name="apolipoprotein E"/> http://ghr.nlm.nih.gov/gene/APOE <a_gene symbol="APP" name="amyloid beta (A4) precursor protein"/> http://ghr.nlm.nih.gov/gene/APP <a_gene symbol="APRT" name="adenine phosphoribosyltransferase"/> http://ghr.nlm.nih.gov/gene/APRT <a_gene symbol="APTX" name="aprataxin"/> http://ghr.nlm.nih.gov/gene/APTX <a_gene symbol="AQP2" name="aquaporin 2 (collecting duct)"/> http://ghr.nlm.nih.gov/gene/AQP2 <a_gene symbol="AR" name="androgen receptor"/> http://ghr.nlm.nih.gov/gene/AR <a_gene symbol="ARFGEF2" name="ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)"/> http://ghr.nlm.nih.gov/gene/ARFGEF2 <a_gene symbol="ARG1" name="arginase 1"/> http://ghr.nlm.nih.gov/gene/ARG1 <a_gene symbol="ARID1A" name="AT rich interactive domain 1A (SWI-like)"/> http://ghr.nlm.nih.gov/gene/ARID1A <a_gene symbol="ARID1B" name="AT rich interactive domain 1B (SWI1-like)"/> http://ghr.nlm.nih.gov/gene/ARID1B <a_gene symbol="ARMS2" name="age-related maculopathy susceptibility 2"/> http://ghr.nlm.nih.gov/gene/ARMS2 <a_gene symbol="ARSA" name="arylsulfatase A"/> http://ghr.nlm.nih.gov/gene/ARSA <a_gene symbol="ARSB" name="arylsulfatase B"/> http://ghr.nlm.nih.gov/gene/ARSB <a_gene symbol="ARSE" name="arylsulfatase E (chondrodysplasia punctata 1)"/> http://ghr.nlm.nih.gov/gene/ARSE <a_gene symbol="ARX" name="aristaless related homeobox"/> http://ghr.nlm.nih.gov/gene/ARX <a_gene symbol="ASAH1" name="N-acylsphingosine amidohydrolase (acid ceramidase) 1"/> http://ghr.nlm.nih.gov/gene/ASAH1 <a_gene symbol="ASL" name="argininosuccinate lyase"/> http://ghr.nlm.nih.gov/gene/ASL <a_gene symbol="ASPA" name="aspartoacylase"/> http://ghr.nlm.nih.gov/gene/ASPA <a_gene symbol="ASPM" name="asp (abnormal spindle) homolog, microcephaly associated (Drosophila)"/> http://ghr.nlm.nih.gov/gene/ASPM <a_gene symbol="ASS1" name="argininosuccinate synthase 1"/> http://ghr.nlm.nih.gov/gene/ASS1 <a_gene symbol="ATG16L1" name="autophagy related 16-like 1 (S. cerevisiae)"/> http://ghr.nlm.nih.gov/gene/ATG16L1 <a_gene symbol="ATL1" name="atlastin GTPase 1"/> http://ghr.nlm.nih.gov/gene/ATL1 <a_gene symbol="ATM" name="ataxia telangiectasia mutated"/> http://ghr.nlm.nih.gov/gene/ATM <a_gene symbol="ATN1" name="atrophin 1"/> http://ghr.nlm.nih.gov/gene/ATN1 <a_gene symbol="ATP1A2" name="ATPase, Na+/K+ transporting, alpha 2 polypeptide"/> http://ghr.nlm.nih.gov/gene/ATP1A2 <a_gene symbol="ATP1A3" name="ATPase, Na+/K+ transporting, alpha 3 polypeptide"/> http://ghr.nlm.nih.gov/gene/ATP1A3 <a_gene symbol="ATP2A1" name="ATPase, Ca++ transporting, cardiac muscle, fast twitch 1"/> http://ghr.nlm.nih.gov/gene/ATP2A1 <a_gene symbol="ATP2A2" name="ATPase, Ca++ transporting, cardiac muscle, slow twitch 2"/> http://ghr.nlm.nih.gov/gene/ATP2A2 <a_gene symbol="ATP2B2" name="ATPase, Ca++ transporting, plasma membrane 2"/> http://ghr.nlm.nih.gov/gene/ATP2B2 <a_gene symbol="ATP6V0A2" name="ATPase, H+ transporting, lysosomal V0 subunit a2"/> http://ghr.nlm.nih.gov/gene/ATP6V0A2 <a_gene symbol="ATP7A" name="ATPase, Cu++ transporting, alpha polypeptide"/> http://ghr.nlm.nih.gov/gene/ATP7A <a_gene symbol="ATP7B" name="ATPase, Cu++ transporting, beta polypeptide"/> http://ghr.nlm.nih.gov/gene/ATP7B <a_gene symbol="ATP8B1" name="ATPase, aminophospholipid transporter, class I, type 8B, member 1"/> http://ghr.nlm.nih.gov/gene/ATP8B1 <a_gene symbol="ATRX" name="alpha thalassemia/mental retardation syndrome X-linked"/> http://ghr.nlm.nih.gov/gene/ATRX <a_gene symbol="ATXN1" name="ataxin 1"/> http://ghr.nlm.nih.gov/gene/ATXN1 <a_gene symbol="ATXN2" name="ataxin 2"/> http://ghr.nlm.nih.gov/gene/ATXN2 <a_gene symbol="ATXN3" name="ataxin 3"/> http://ghr.nlm.nih.gov/gene/ATXN3 <a_gene symbol="AUH" name="AU RNA binding protein/enoyl-CoA hydratase"/> http://ghr.nlm.nih.gov/gene/AUH <a_gene symbol="AVP" name="arginine vasopressin"/> http://ghr.nlm.nih.gov/gene/AVP <a_gene symbol="AVPR2" name="arginine vasopressin receptor 2"/> http://ghr.nlm.nih.gov/gene/AVPR2 <a_gene symbol="B3GALTL" name="beta 1,3-galactosyltransferase-like"/> http://ghr.nlm.nih.gov/gene/B3GALTL <a_gene symbol="BARD1" name="BRCA1 associated RING domain 1"/> http://ghr.nlm.nih.gov/gene/BARD1 <a_gene symbol="BBS1" name="Bardet-Biedl syndrome 1"/> http://ghr.nlm.nih.gov/gene/BBS1 <a_gene symbol="BBS10" name="Bardet-Biedl syndrome 10"/> http://ghr.nlm.nih.gov/gene/BBS10 <a_gene symbol="BCHE" name="butyrylcholinesterase"/> http://ghr.nlm.nih.gov/gene/BCHE <a_gene symbol="BCKDHA" name="branched chain keto acid dehydrogenase E1, alpha polypeptide"/> http://ghr.nlm.nih.gov/gene/BCKDHA <a_gene symbol="BCKDHB" name="branched chain keto acid dehydrogenase E1, beta polypeptide"/> http://ghr.nlm.nih.gov/gene/BCKDHB <a_gene symbol="BCOR" name="BCL6 corepressor"/> http://ghr.nlm.nih.gov/gene/BCOR <a_gene symbol="BDNF" name="brain-derived neurotrophic factor"/> http://ghr.nlm.nih.gov/gene/BDNF <a_gene symbol="BEST1" name="bestrophin 1"/> http://ghr.nlm.nih.gov/gene/BEST1 <a_gene symbol="BIN1" name="bridging integrator 1"/> http://ghr.nlm.nih.gov/gene/BIN1 <a_gene symbol="BLM" name="Bloom syndrome, RecQ helicase-like"/> http://ghr.nlm.nih.gov/gene/BLM <a_gene symbol="BMPR1A" name="bone morphogenetic protein receptor, type IA"/> http://ghr.nlm.nih.gov/gene/BMPR1A <a_gene symbol="BMPR2" name="bone morphogenetic protein receptor, type II (serine/threonine kinase)"/> http://ghr.nlm.nih.gov/gene/BMPR2 <a_gene symbol="BRAF" name="v-raf murine sarcoma viral oncogene homolog B1"/> http://ghr.nlm.nih.gov/gene/BRAF <a_gene symbol="BRCA1" name="breast cancer 1, early onset"/> http://ghr.nlm.nih.gov/gene/BRCA1 <a_gene symbol="BRCA2" name="breast cancer 2, early onset"/> http://ghr.nlm.nih.gov/gene/BRCA2 <a_gene symbol="BRIP1" name="BRCA1 interacting protein 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subunit"/> http://ghr.nlm.nih.gov/gene/CACNA1C <a_gene symbol="CACNA1F" name="calcium channel, voltage-dependent, L type, alpha 1F subunit"/> http://ghr.nlm.nih.gov/gene/CACNA1F <a_gene symbol="CACNA1S" name="calcium channel, voltage-dependent, L type, alpha 1S subunit"/> http://ghr.nlm.nih.gov/gene/CACNA1S <a_gene symbol="CACNB4" name="calcium channel, voltage-dependent, beta 4 subunit"/> http://ghr.nlm.nih.gov/gene/CACNB4 <a_gene symbol="CAPN3" name="calpain 3, (p94)"/> http://ghr.nlm.nih.gov/gene/CAPN3 <a_gene symbol="CARD14" name="caspase recruitment domain family, member 14"/> http://ghr.nlm.nih.gov/gene/CARD14 <a_gene symbol="CASQ2" name="calsequestrin 2 (cardiac muscle)"/> http://ghr.nlm.nih.gov/gene/CASQ2 <a_gene symbol="CASR" name="calcium-sensing receptor"/> http://ghr.nlm.nih.gov/gene/CASR <a_gene symbol="CATSPER1" name="cation channel, sperm associated 1"/> http://ghr.nlm.nih.gov/gene/CATSPER1 <a_gene symbol="CATSPER2" name="cation channel, sperm associated 2"/> http://ghr.nlm.nih.gov/gene/CATSPER2 <a_gene symbol="CAV3" name="caveolin 3"/> http://ghr.nlm.nih.gov/gene/CAV3 <a_gene symbol="CBS" name="cystathionine-beta-synthase"/> http://ghr.nlm.nih.gov/gene/CBS <a_gene symbol="CCM2" name="cerebral cavernous malformation 2"/> http://ghr.nlm.nih.gov/gene/CCM2 <a_gene symbol="CD40LG" name="CD40 ligand"/> http://ghr.nlm.nih.gov/gene/CD40LG <a_gene symbol="CDAN1" name="codanin 1"/> http://ghr.nlm.nih.gov/gene/CDAN1 <a_gene symbol="CDC73" name="cell division cycle 73"/> http://ghr.nlm.nih.gov/gene/CDC73 <a_gene symbol="CDH1" name="cadherin 1, type 1, E-cadherin (epithelial)"/> http://ghr.nlm.nih.gov/gene/CDH1 <a_gene symbol="CDH23" name="cadherin-related 23"/> http://ghr.nlm.nih.gov/gene/CDH23 <a_gene symbol="CDKL5" name="cyclin-dependent kinase-like 5"/> http://ghr.nlm.nih.gov/gene/CDKL5 <a_gene symbol="CDKN1C" name="cyclin-dependent kinase inhibitor 1C (p57, Kip2)"/> http://ghr.nlm.nih.gov/gene/CDKN1C <a_gene symbol="CEBPA" name="CCAAT/enhancer binding protein (C/EBP), alpha"/> http://ghr.nlm.nih.gov/gene/CEBPA <a_gene symbol="CEP290" name="centrosomal protein 290kDa"/> http://ghr.nlm.nih.gov/gene/CEP290 <a_gene symbol="CFH" name="complement factor H"/> http://ghr.nlm.nih.gov/gene/CFH <a_gene symbol="CFHR5" name="complement factor H-related 5"/> http://ghr.nlm.nih.gov/gene/CFHR5 <a_gene symbol="CFI" name="complement factor I"/> http://ghr.nlm.nih.gov/gene/CFI <a_gene symbol="CFTR" name="cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)"/> http://ghr.nlm.nih.gov/gene/CFTR <a_gene symbol="CHAT" name="choline O-acetyltransferase"/> http://ghr.nlm.nih.gov/gene/CHAT <a_gene symbol="CHD7" name="chromodomain helicase DNA binding protein 7"/> http://ghr.nlm.nih.gov/gene/CHD7 <a_gene symbol="CHEK2" name="checkpoint kinase 2"/> http://ghr.nlm.nih.gov/gene/CHEK2 <a_gene symbol="CHM" name="choroideremia (Rab escort protein 1)"/> http://ghr.nlm.nih.gov/gene/CHM <a_gene symbol="CHMP2B" name="charged multivesicular body protein 2B"/> http://ghr.nlm.nih.gov/gene/CHMP2B <a_gene symbol="CHN1" name="chimerin 1"/> http://ghr.nlm.nih.gov/gene/CHN1 <a_gene symbol="CHRNA2" name="cholinergic receptor, nicotinic, alpha 2 (neuronal)"/> http://ghr.nlm.nih.gov/gene/CHRNA2 <a_gene symbol="CHRNA4" name="cholinergic receptor, nicotinic, alpha 4 (neuronal)"/> http://ghr.nlm.nih.gov/gene/CHRNA4 <a_gene symbol="CHRNB2" name="cholinergic receptor, nicotinic, beta 2 (neuronal)"/> http://ghr.nlm.nih.gov/gene/CHRNB2 <a_gene symbol="CHRNE" name="cholinergic receptor, nicotinic, epsilon (muscle)"/> http://ghr.nlm.nih.gov/gene/CHRNE <a_gene symbol="CHRNG" name="cholinergic receptor, nicotinic, gamma (muscle)"/> http://ghr.nlm.nih.gov/gene/CHRNG <a_gene symbol="CHST3" name="carbohydrate (chondroitin 6) sulfotransferase 3"/> http://ghr.nlm.nih.gov/gene/CHST3 <a_gene symbol="CIRH1A" name="cirrhosis, autosomal recessive 1A (cirhin)"/> http://ghr.nlm.nih.gov/gene/CIRH1A <a_gene symbol="CISD2" name="CDGSH iron sulfur domain 2"/> http://ghr.nlm.nih.gov/gene/CISD2 <a_gene symbol="CLCF1" name="cardiotrophin-like cytokine factor 1"/> http://ghr.nlm.nih.gov/gene/CLCF1 <a_gene symbol="CLCN1" name="chloride channel, voltage-sensitive 1"/> http://ghr.nlm.nih.gov/gene/CLCN1 <a_gene symbol="CLCN5" name="chloride channel, voltage-sensitive 5"/> http://ghr.nlm.nih.gov/gene/CLCN5 <a_gene symbol="CLCN7" name="chloride channel, voltage-sensitive 7"/> http://ghr.nlm.nih.gov/gene/CLCN7 <a_gene symbol="CLCNKA" name="chloride channel, voltage-sensitive Ka"/> http://ghr.nlm.nih.gov/gene/CLCNKA <a_gene symbol="CLCNKB" name="chloride channel, voltage-sensitive Kb"/> http://ghr.nlm.nih.gov/gene/CLCNKB <a_gene symbol="CLDN14" name="claudin 14"/> http://ghr.nlm.nih.gov/gene/CLDN14 <a_gene symbol="CLIP2" name="CAP-GLY domain containing linker protein 2"/> http://ghr.nlm.nih.gov/gene/CLIP2 <a_gene symbol="CLN3" name="ceroid-lipofuscinosis, neuronal 3"/> http://ghr.nlm.nih.gov/gene/CLN3 <a_gene symbol="CLRN1" name="clarin 1"/> http://ghr.nlm.nih.gov/gene/CLRN1 <a_gene symbol="CNBP" name="CCHC-type zinc finger, nucleic acid binding protein"/> http://ghr.nlm.nih.gov/gene/CNBP <a_gene symbol="CNGA3" name="cyclic nucleotide gated channel alpha 3"/> http://ghr.nlm.nih.gov/gene/CNGA3 <a_gene symbol="CNGB3" name="cyclic nucleotide gated channel beta 3"/> http://ghr.nlm.nih.gov/gene/CNGB3 <a_gene symbol="COCH" name="cochlin"/> http://ghr.nlm.nih.gov/gene/COCH <a_gene symbol="COL1A1" name="collagen, type I, alpha 1"/> http://ghr.nlm.nih.gov/gene/COL1A1 <a_gene symbol="COL1A2" name="collagen, type I, alpha 2"/> http://ghr.nlm.nih.gov/gene/COL1A2 <a_gene symbol="COL2A1" name="collagen, type II, alpha 1"/> http://ghr.nlm.nih.gov/gene/COL2A1 <a_gene symbol="COL3A1" name="collagen, type III, alpha 1"/> http://ghr.nlm.nih.gov/gene/COL3A1 <a_gene symbol="COL4A1" name="collagen, type IV, alpha 1"/> http://ghr.nlm.nih.gov/gene/COL4A1 <a_gene symbol="COL4A3" name="collagen, type IV, alpha 3 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http://ghr.nlm.nih.gov/gene/COL9A1 <a_gene symbol="COL9A2" name="collagen, type IX, alpha 2"/> http://ghr.nlm.nih.gov/gene/COL9A2 <a_gene symbol="COL9A3" name="collagen, type IX, alpha 3"/> http://ghr.nlm.nih.gov/gene/COL9A3 <a_gene symbol="COL11A1" name="collagen, type XI, alpha 1"/> http://ghr.nlm.nih.gov/gene/COL11A1 <a_gene symbol="COL11A2" name="collagen, type XI, alpha 2"/> http://ghr.nlm.nih.gov/gene/COL11A2 <a_gene symbol="COL17A1" name="collagen, type XVII, alpha 1"/> http://ghr.nlm.nih.gov/gene/COL17A1 <a_gene symbol="COL18A1" name="collagen, type XVIII, alpha 1"/> http://ghr.nlm.nih.gov/gene/COL18A1 <a_gene symbol="COLQ" name="collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase"/> http://ghr.nlm.nih.gov/gene/COLQ <a_gene symbol="COMP" name="cartilage oligomeric matrix protein"/> http://ghr.nlm.nih.gov/gene/COMP <a_gene symbol="COMT" name="catechol-O-methyltransferase"/> http://ghr.nlm.nih.gov/gene/COMT <a_gene symbol="CP" name="ceruloplasmin (ferroxidase)"/> http://ghr.nlm.nih.gov/gene/CP <a_gene symbol="CPOX" name="coproporphyrinogen oxidase"/> http://ghr.nlm.nih.gov/gene/CPOX <a_gene symbol="CPS1" name="carbamoyl-phosphate synthase 1, mitochondrial"/> http://ghr.nlm.nih.gov/gene/CPS1 <a_gene symbol="CPT1A" name="carnitine palmitoyltransferase 1A (liver)"/> http://ghr.nlm.nih.gov/gene/CPT1A <a_gene symbol="CPT2" name="carnitine palmitoyltransferase 2"/> http://ghr.nlm.nih.gov/gene/CPT2 <a_gene symbol="CRB1" name="crumbs homolog 1 (Drosophila)"/> http://ghr.nlm.nih.gov/gene/CRB1 <a_gene symbol="CREBBP" name="CREB binding protein"/> http://ghr.nlm.nih.gov/gene/CREBBP <a_gene symbol="CRLF1" name="cytokine receptor-like factor 1"/> http://ghr.nlm.nih.gov/gene/CRLF1 <a_gene symbol="CRTAP" name="cartilage associated protein"/> http://ghr.nlm.nih.gov/gene/CRTAP <a_gene symbol="CSF1R" name="colony stimulating factor 1 receptor"/> http://ghr.nlm.nih.gov/gene/CSF1R <a_gene symbol="CST3" name="cystatin C"/> http://ghr.nlm.nih.gov/gene/CST3 <a_gene symbol="CSTB" name="cystatin B (stefin B)"/> http://ghr.nlm.nih.gov/gene/CSTB <a_gene symbol="CTDP1" name="CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1"/> http://ghr.nlm.nih.gov/gene/CTDP1 <a_gene symbol="CTNNB1" name="catenin (cadherin-associated protein), beta 1, 88kDa"/> http://ghr.nlm.nih.gov/gene/CTNNB1 <a_gene symbol="CTNND2" name="catenin (cadherin-associated protein), delta 2"/> http://ghr.nlm.nih.gov/gene/CTNND2 <a_gene symbol="CTNS" name="cystinosin, lysosomal cystine transporter"/> http://ghr.nlm.nih.gov/gene/CTNS <a_gene symbol="CTSA" name="cathepsin A"/> http://ghr.nlm.nih.gov/gene/CTSA <a_gene symbol="CUL7" name="cullin 7"/> http://ghr.nlm.nih.gov/gene/CUL7 <a_gene symbol="CYBA" name="cytochrome b-245, alpha polypeptide"/> http://ghr.nlm.nih.gov/gene/CYBA <a_gene symbol="CYBB" name="cytochrome b-245, beta polypeptide"/> http://ghr.nlm.nih.gov/gene/CYBB <a_gene symbol="CYLD" name="cylindromatosis (turban tumor syndrome)"/> http://ghr.nlm.nih.gov/gene/CYLD <a_gene symbol="CYP1B1" name="cytochrome P450, family 1, subfamily B, polypeptide 1"/> http://ghr.nlm.nih.gov/gene/CYP1B1 <a_gene symbol="CYP4V2" name="cytochrome P450, family 4, subfamily V, polypeptide 2"/> http://ghr.nlm.nih.gov/gene/CYP4V2 <a_gene symbol="CYP11B1" name="cytochrome P450, family 11, subfamily B, polypeptide 1"/> http://ghr.nlm.nih.gov/gene/CYP11B1 <a_gene symbol="CYP11B2" name="cytochrome P450, family 11, subfamily B, polypeptide 2"/> http://ghr.nlm.nih.gov/gene/CYP11B2 <a_gene symbol="CYP21A2" name="cytochrome P450, family 21, subfamily A, polypeptide 2"/> http://ghr.nlm.nih.gov/gene/CYP21A2 <a_gene symbol="CYP27A1" name="cytochrome P450, family 27, subfamily A, polypeptide 1"/> http://ghr.nlm.nih.gov/gene/CYP27A1 <a_gene symbol="D2HGDH" name="D-2-hydroxyglutarate dehydrogenase"/> http://ghr.nlm.nih.gov/gene/D2HGDH <a_gene symbol="DARS2" name="aspartyl-tRNA synthetase 2, mitochondrial"/> http://ghr.nlm.nih.gov/gene/DARS2 <a_gene symbol="DBH" name="dopamine beta-hydroxylase (dopamine beta-monooxygenase)"/> http://ghr.nlm.nih.gov/gene/DBH <a_gene symbol="DBT" name="dihydrolipoamide branched chain transacylase E2"/> http://ghr.nlm.nih.gov/gene/DBT <a_gene symbol="DCN" name="decorin"/> http://ghr.nlm.nih.gov/gene/DCN <a_gene symbol="DCTN1" name="dynactin 1"/> http://ghr.nlm.nih.gov/gene/DCTN1 <a_gene symbol="DCX" name="doublecortin"/> http://ghr.nlm.nih.gov/gene/DCX <a_gene symbol="DDC" name="dopa decarboxylase (aromatic L-amino acid decarboxylase)"/> http://ghr.nlm.nih.gov/gene/DDC <a_gene symbol="DES" name="desmin"/> http://ghr.nlm.nih.gov/gene/DES <a_gene symbol="DFNA5" name="deafness, autosomal dominant 5"/> http://ghr.nlm.nih.gov/gene/DFNA5 <a_gene symbol="DFNB31" name="deafness, autosomal recessive 31"/> http://ghr.nlm.nih.gov/gene/DFNB31 <a_gene symbol="DFNB59" name="deafness, autosomal recessive 59"/> http://ghr.nlm.nih.gov/gene/DFNB59 <a_gene symbol="DGUOK" name="deoxyguanosine kinase"/> http://ghr.nlm.nih.gov/gene/DGUOK <a_gene symbol="DHCR7" name="7-dehydrocholesterol reductase"/> http://ghr.nlm.nih.gov/gene/DHCR7 <a_gene symbol="DHH" name="desert hedgehog"/> http://ghr.nlm.nih.gov/gene/DHH <a_gene symbol="DHODH" name="dihydroorotate dehydrogenase (quinone)"/> http://ghr.nlm.nih.gov/gene/DHODH <a_gene symbol="DICER1" name="dicer 1, ribonuclease type III"/> http://ghr.nlm.nih.gov/gene/DICER1 <a_gene symbol="DIRAS3" name="DIRAS family, GTP-binding RAS-like 3"/> http://ghr.nlm.nih.gov/gene/DIRAS3 <a_gene symbol="DKC1" name="dyskeratosis congenita 1, dyskerin"/> http://ghr.nlm.nih.gov/gene/DKC1 <a_gene symbol="DLAT" name="dihydrolipoamide S-acetyltransferase"/> http://ghr.nlm.nih.gov/gene/DLAT <a_gene symbol="DLD" name="dihydrolipoamide dehydrogenase"/> http://ghr.nlm.nih.gov/gene/DLD <a_gene symbol="DLL3" name="delta-like 3 (Drosophila)"/> http://ghr.nlm.nih.gov/gene/DLL3 <a_gene symbol="DMD" name="dystrophin"/> http://ghr.nlm.nih.gov/gene/DMD <a_gene symbol="DMPK" name="dystrophia myotonica-protein kinase"/> http://ghr.nlm.nih.gov/gene/DMPK <a_gene symbol="DNAH5" name="dynein, axonemal, heavy chain 5"/> http://ghr.nlm.nih.gov/gene/DNAH5 <a_gene symbol="DNAI1" name="dynein, axonemal, intermediate chain 1"/> http://ghr.nlm.nih.gov/gene/DNAI1 <a_gene symbol="DNAJC19" name="DnaJ (Hsp40) homolog, subfamily C, member 19"/> http://ghr.nlm.nih.gov/gene/DNAJC19 <a_gene symbol="DNM2" name="dynamin 2"/> http://ghr.nlm.nih.gov/gene/DNM2 <a_gene symbol="DNMT1" name="DNA (cytosine-5-)-methyltransferase 1"/> http://ghr.nlm.nih.gov/gene/DNMT1 <a_gene symbol="DOK7" name="docking protein 7"/> http://ghr.nlm.nih.gov/gene/DOK7 <a_gene symbol="DPYD" name="dihydropyrimidine dehydrogenase"/> http://ghr.nlm.nih.gov/gene/DPYD <a_gene symbol="DRD3" name="dopamine receptor D3"/> http://ghr.nlm.nih.gov/gene/DRD3 <a_gene symbol="DRD5" name="dopamine receptor D5"/> http://ghr.nlm.nih.gov/gene/DRD5 <a_gene symbol="DSG4" name="desmoglein 4"/> http://ghr.nlm.nih.gov/gene/DSG4 <a_gene symbol="DSPP" name="dentin sialophosphoprotein"/> http://ghr.nlm.nih.gov/gene/DSPP <a_gene symbol="DUOX2" name="dual oxidase 2"/> http://ghr.nlm.nih.gov/gene/DUOX2 <a_gene symbol="DYNC1H1" name="dynein, cytoplasmic 1, heavy chain 1"/> http://ghr.nlm.nih.gov/gene/DYNC1H1 <a_gene symbol="DYSF" name="dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive)"/> http://ghr.nlm.nih.gov/gene/DYSF <a_gene symbol="EBP" name="emopamil binding protein (sterol isomerase)"/> http://ghr.nlm.nih.gov/gene/EBP <a_gene symbol="EDA" name="ectodysplasin A"/> http://ghr.nlm.nih.gov/gene/EDA <a_gene symbol="EDAR" name="ectodysplasin A receptor"/> http://ghr.nlm.nih.gov/gene/EDAR <a_gene symbol="EDARADD" name="EDAR-associated death domain"/> http://ghr.nlm.nih.gov/gene/EDARADD <a_gene symbol="EDN3" name="endothelin 3"/> http://ghr.nlm.nih.gov/gene/EDN3 <a_gene symbol="EDNRB" name="endothelin receptor type B"/> http://ghr.nlm.nih.gov/gene/EDNRB <a_gene symbol="EFEMP2" name="EGF containing fibulin-like extracellular matrix protein 2"/> http://ghr.nlm.nih.gov/gene/EFEMP2 <a_gene symbol="EFHC1" name="EF-hand domain (C-terminal) containing 1"/> http://ghr.nlm.nih.gov/gene/EFHC1 <a_gene symbol="EGLN1" name="egl nine homolog 1 (C. elegans)"/> http://ghr.nlm.nih.gov/gene/EGLN1 <a_gene symbol="EGR2" name="early growth response 2"/> http://ghr.nlm.nih.gov/gene/EGR2 <a_gene symbol="EHMT1" name="euchromatic histone-lysine N-methyltransferase 1"/> http://ghr.nlm.nih.gov/gene/EHMT1 <a_gene symbol="EIF2B1" name="eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa"/> http://ghr.nlm.nih.gov/gene/EIF2B1 <a_gene symbol="EIF2B2" name="eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa"/> http://ghr.nlm.nih.gov/gene/EIF2B2 <a_gene symbol="EIF2B3" name="eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa"/> http://ghr.nlm.nih.gov/gene/EIF2B3 <a_gene symbol="EIF2B4" name="eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa"/> http://ghr.nlm.nih.gov/gene/EIF2B4 <a_gene symbol="EIF2B5" name="eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa"/> http://ghr.nlm.nih.gov/gene/EIF2B5 <a_gene symbol="ELANE" name="elastase, neutrophil expressed"/> http://ghr.nlm.nih.gov/gene/ELANE <a_gene symbol="ELN" name="elastin"/> http://ghr.nlm.nih.gov/gene/ELN <a_gene symbol="ELOVL4" name="ELOVL fatty acid elongase 4"/> http://ghr.nlm.nih.gov/gene/ELOVL4 <a_gene symbol="EMD" name="emerin"/> http://ghr.nlm.nih.gov/gene/EMD <a_gene symbol="ENAM" name="enamelin"/> http://ghr.nlm.nih.gov/gene/ENAM <a_gene symbol="ENG" name="endoglin"/> http://ghr.nlm.nih.gov/gene/ENG <a_gene symbol="EP300" name="E1A binding protein p300"/> http://ghr.nlm.nih.gov/gene/EP300 <a_gene symbol="EPAS1" name="endothelial PAS domain protein 1"/> http://ghr.nlm.nih.gov/gene/EPAS1 <a_gene symbol="EPCAM" name="epithelial cell adhesion molecule"/> http://ghr.nlm.nih.gov/gene/EPCAM <a_gene symbol="EPM2A" name="epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)"/> http://ghr.nlm.nih.gov/gene/EPM2A <a_gene symbol="EPOR" name="erythropoietin receptor"/> http://ghr.nlm.nih.gov/gene/EPOR <a_gene symbol="ERAP1" name="endoplasmic reticulum aminopeptidase 1"/> http://ghr.nlm.nih.gov/gene/ERAP1 <a_gene symbol="ERBB2" name="v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"/> http://ghr.nlm.nih.gov/gene/ERBB2 <a_gene symbol="ERCC2" name="excision repair cross-complementing rodent repair deficiency, complementation group 2"/> http://ghr.nlm.nih.gov/gene/ERCC2 <a_gene symbol="ERCC3" name="excision repair cross-complementing rodent repair deficiency, complementation group 3"/> http://ghr.nlm.nih.gov/gene/ERCC3 <a_gene symbol="ERCC6" name="excision repair cross-complementing rodent repair deficiency, complementation group 6"/> http://ghr.nlm.nih.gov/gene/ERCC6 <a_gene symbol="ERCC8" name="excision repair cross-complementing rodent repair deficiency, complementation group 8"/> http://ghr.nlm.nih.gov/gene/ERCC8 <a_gene symbol="ESCO2" name="establishment of sister chromatid cohesion N-acetyltransferase 2"/> http://ghr.nlm.nih.gov/gene/ESCO2 <a_gene symbol="ESPN" name="espin"/> http://ghr.nlm.nih.gov/gene/ESPN <a_gene symbol="ETFA" name="electron-transfer-flavoprotein, alpha polypeptide"/> http://ghr.nlm.nih.gov/gene/ETFA <a_gene symbol="ETFB" name="electron-transfer-flavoprotein, beta polypeptide"/> http://ghr.nlm.nih.gov/gene/ETFB <a_gene symbol="ETFDH" name="electron-transferring-flavoprotein dehydrogenase"/> http://ghr.nlm.nih.gov/gene/ETFDH <a_gene symbol="ETHE1" name="ethylmalonic encephalopathy 1"/> http://ghr.nlm.nih.gov/gene/ETHE1 <a_gene symbol="ETV6" name="ets variant 6"/> http://ghr.nlm.nih.gov/gene/ETV6 <a_gene symbol="EVC" name="Ellis van Creveld syndrome"/> http://ghr.nlm.nih.gov/gene/EVC <a_gene symbol="EVC2" name="Ellis van Creveld syndrome 2"/> http://ghr.nlm.nih.gov/gene/EVC2 <a_gene symbol="EWSR1" name="Ewing sarcoma breakpoint region 1"/> http://ghr.nlm.nih.gov/gene/EWSR1 <a_gene symbol="EXT1" name="exostosin glycosyltransferase 1"/> http://ghr.nlm.nih.gov/gene/EXT1 <a_gene symbol="EXT2" name="exostosin glycosyltransferase 2"/> http://ghr.nlm.nih.gov/gene/EXT2 <a_gene symbol="EYA1" name="eyes absent homolog 1 (Drosophila)"/> http://ghr.nlm.nih.gov/gene/EYA1 <a_gene symbol="EYA4" name="eyes absent homolog 4 (Drosophila)"/> http://ghr.nlm.nih.gov/gene/EYA4 <a_gene symbol="F2" name="coagulation factor II (thrombin)"/> http://ghr.nlm.nih.gov/gene/F2 <a_gene symbol="F5" name="coagulation factor V (proaccelerin, labile factor)"/> http://ghr.nlm.nih.gov/gene/F5 <a_gene symbol="F8" name="coagulation factor VIII, procoagulant component"/> http://ghr.nlm.nih.gov/gene/F8 <a_gene symbol="F9" name="coagulation factor IX"/> http://ghr.nlm.nih.gov/gene/F9 <a_gene symbol="F12" name="coagulation factor XII (Hageman factor)"/> http://ghr.nlm.nih.gov/gene/F12 <a_gene symbol="FA2H" name="fatty acid 2-hydroxylase"/> http://ghr.nlm.nih.gov/gene/FA2H <a_gene symbol="FAH" name="fumarylacetoacetate hydrolase (fumarylacetoacetase)"/> http://ghr.nlm.nih.gov/gene/FAH <a_gene symbol="FAM126A" name="family with sequence similarity 126, member A"/> http://ghr.nlm.nih.gov/gene/FAM126A <a_gene symbol="FAM134B" name="family with sequence similarity 134, member B"/> http://ghr.nlm.nih.gov/gene/FAM134B <a_gene symbol="FANCA" name="Fanconi anemia, complementation group A"/> http://ghr.nlm.nih.gov/gene/FANCA <a_gene symbol="FANCC" name="Fanconi anemia, complementation group C"/> http://ghr.nlm.nih.gov/gene/FANCC <a_gene symbol="FANCG" name="Fanconi anemia, complementation group G"/> http://ghr.nlm.nih.gov/gene/FANCG <a_gene symbol="FAS" name="Fas (TNF receptor superfamily, member 6)"/> http://ghr.nlm.nih.gov/gene/FAS <a_gene symbol="FBLN5" name="fibulin 5"/> http://ghr.nlm.nih.gov/gene/FBLN5 <a_gene symbol="FBN1" name="fibrillin 1"/> http://ghr.nlm.nih.gov/gene/FBN1 <a_gene symbol="FBN2" name="fibrillin 2"/> http://ghr.nlm.nih.gov/gene/FBN2 <a_gene symbol="FECH" name="ferrochelatase"/> http://ghr.nlm.nih.gov/gene/FECH <a_gene symbol="FGA" name="fibrinogen alpha chain"/> http://ghr.nlm.nih.gov/gene/FGA <a_gene symbol="FGB" name="fibrinogen beta chain"/> http://ghr.nlm.nih.gov/gene/FGB <a_gene symbol="FGD1" name="FYVE, RhoGEF and PH domain containing 1"/> http://ghr.nlm.nih.gov/gene/FGD1 <a_gene symbol="FGD4" name="FYVE, RhoGEF and PH domain containing 4"/> http://ghr.nlm.nih.gov/gene/FGD4 <a_gene symbol="FGF3" name="fibroblast growth factor 3"/> http://ghr.nlm.nih.gov/gene/FGF3 <a_gene symbol="FGF23" name="fibroblast growth factor 23"/> http://ghr.nlm.nih.gov/gene/FGF23 <a_gene symbol="FGFR1" name="fibroblast growth factor receptor 1"/> http://ghr.nlm.nih.gov/gene/FGFR1 <a_gene symbol="FGFR2" name="fibroblast growth factor receptor 2"/> http://ghr.nlm.nih.gov/gene/FGFR2 <a_gene symbol="FGFR3" name="fibroblast growth factor receptor 3"/> http://ghr.nlm.nih.gov/gene/FGFR3 <a_gene symbol="FGFR4" name="fibroblast growth factor receptor 4"/> http://ghr.nlm.nih.gov/gene/FGFR4 <a_gene symbol="FGFRL1" name="fibroblast growth factor receptor-like 1"/> http://ghr.nlm.nih.gov/gene/FGFRL1 <a_gene symbol="FGG" name="fibrinogen gamma chain"/> http://ghr.nlm.nih.gov/gene/FGG <a_gene symbol="FH" name="fumarate hydratase"/> http://ghr.nlm.nih.gov/gene/FH <a_gene symbol="FIG4" name="FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)"/> http://ghr.nlm.nih.gov/gene/FIG4 <a_gene symbol="FIP1L1" name="FIP1 like 1 (S. cerevisiae)"/> http://ghr.nlm.nih.gov/gene/FIP1L1 <a_gene symbol="FKTN" name="fukutin"/> http://ghr.nlm.nih.gov/gene/FKTN <a_gene symbol="FLCN" name="folliculin"/> http://ghr.nlm.nih.gov/gene/FLCN <a_gene symbol="FLI1" name="Friend leukemia virus integration 1"/> http://ghr.nlm.nih.gov/gene/FLI1 <a_gene symbol="FLNA" name="filamin A, alpha"/> http://ghr.nlm.nih.gov/gene/FLNA <a_gene symbol="FLNB" name="filamin B, beta"/> http://ghr.nlm.nih.gov/gene/FLNB <a_gene symbol="FLT4" name="fms-related tyrosine kinase 4"/> http://ghr.nlm.nih.gov/gene/FLT4 <a_gene symbol="FMO3" name="flavin containing monooxygenase 3"/> http://ghr.nlm.nih.gov/gene/FMO3 <a_gene symbol="FMR1" name="fragile X mental retardation 1"/> http://ghr.nlm.nih.gov/gene/FMR1 <a_gene symbol="FOXC1" name="forkhead box C1"/> http://ghr.nlm.nih.gov/gene/FOXC1 <a_gene symbol="FOXC2" name="forkhead box C2 (MFH-1, mesenchyme forkhead 1)"/> http://ghr.nlm.nih.gov/gene/FOXC2 <a_gene symbol="FOXF1" name="forkhead box F1"/> http://ghr.nlm.nih.gov/gene/FOXF1 <a_gene symbol="FOXG1" name="forkhead box G1"/> http://ghr.nlm.nih.gov/gene/FOXG1 <a_gene symbol="FOXL2" name="forkhead box L2"/> http://ghr.nlm.nih.gov/gene/FOXL2 <a_gene symbol="FOXP3" name="forkhead box P3"/> http://ghr.nlm.nih.gov/gene/FOXP3 <a_gene symbol="FREM1" name="FRAS1 related extracellular matrix 1"/> http://ghr.nlm.nih.gov/gene/FREM1 <a_gene symbol="FRMD7" name="FERM domain containing 7"/> http://ghr.nlm.nih.gov/gene/FRMD7 <a_gene symbol="FTCD" name="formiminotransferase cyclodeaminase"/> http://ghr.nlm.nih.gov/gene/FTCD <a_gene symbol="FTL" name="ferritin, light polypeptide"/> http://ghr.nlm.nih.gov/gene/FTL <a_gene symbol="FUCA1" name="fucosidase, alpha-L- 1, tissue"/> http://ghr.nlm.nih.gov/gene/FUCA1 <a_gene symbol="FUS" name="fused in sarcoma"/> http://ghr.nlm.nih.gov/gene/FUS <a_gene symbol="FXN" name="frataxin"/> http://ghr.nlm.nih.gov/gene/FXN <a_gene symbol="FZD4" name="frizzled family receptor 4"/> http://ghr.nlm.nih.gov/gene/FZD4 <a_gene symbol="G6PC" name="glucose-6-phosphatase, catalytic subunit"/> http://ghr.nlm.nih.gov/gene/G6PC <a_gene symbol="G6PD" name="glucose-6-phosphate dehydrogenase"/> http://ghr.nlm.nih.gov/gene/G6PD <a_gene symbol="GAA" name="glucosidase, alpha; acid"/> http://ghr.nlm.nih.gov/gene/GAA <a_gene symbol="GABRA1" name="gamma-aminobutyric acid (GABA) A receptor, alpha 1"/> http://ghr.nlm.nih.gov/gene/GABRA1 <a_gene symbol="GALC" name="galactosylceramidase"/> http://ghr.nlm.nih.gov/gene/GALC <a_gene symbol="GALE" name="UDP-galactose-4-epimerase"/> http://ghr.nlm.nih.gov/gene/GALE <a_gene symbol="GALK1" name="galactokinase 1"/> http://ghr.nlm.nih.gov/gene/GALK1 <a_gene symbol="GALNS" name="galactosamine (N-acetyl)-6-sulfate sulfatase"/> http://ghr.nlm.nih.gov/gene/GALNS <a_gene symbol="GALNT3" name="UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3)"/> http://ghr.nlm.nih.gov/gene/GALNT3 <a_gene symbol="GALT" name="galactose-1-phosphate uridylyltransferase"/> http://ghr.nlm.nih.gov/gene/GALT <a_gene symbol="GAMT" name="guanidinoacetate N-methyltransferase"/> http://ghr.nlm.nih.gov/gene/GAMT <a_gene symbol="GAN" name="gigaxonin"/> http://ghr.nlm.nih.gov/gene/GAN <a_gene symbol="GARS" name="glycyl-tRNA synthetase"/> http://ghr.nlm.nih.gov/gene/GARS <a_gene symbol="GATA1" name="GATA binding protein 1 (globin transcription factor 1)"/> http://ghr.nlm.nih.gov/gene/GATA1 <a_gene symbol="GATM" name="glycine amidinotransferase (L-arginine:glycine amidinotransferase)"/> http://ghr.nlm.nih.gov/gene/GATM <a_gene symbol="GBA" name="glucosidase, beta, acid"/> http://ghr.nlm.nih.gov/gene/GBA <a_gene symbol="GBE1" name="glucan (1,4-alpha-), branching enzyme 1"/> http://ghr.nlm.nih.gov/gene/GBE1 <a_gene symbol="GCDH" name="glutaryl-CoA dehydrogenase"/> http://ghr.nlm.nih.gov/gene/GCDH <a_gene symbol="GCH1" name="GTP cyclohydrolase 1"/> http://ghr.nlm.nih.gov/gene/GCH1 <a_gene symbol="GDAP1" name="ganglioside induced differentiation associated protein 1"/> http://ghr.nlm.nih.gov/gene/GDAP1 <a_gene symbol="GDF3" name="growth differentiation factor 3"/> http://ghr.nlm.nih.gov/gene/GDF3 <a_gene symbol="GDF6" name="growth differentiation factor 6"/> http://ghr.nlm.nih.gov/gene/GDF6 <a_gene symbol="GFAP" name="glial fibrillary acidic protein"/> http://ghr.nlm.nih.gov/gene/GFAP <a_gene symbol="GH1" name="growth hormone 1"/> http://ghr.nlm.nih.gov/gene/GH1 <a_gene symbol="GHRHR" name="growth hormone releasing hormone receptor"/> http://ghr.nlm.nih.gov/gene/GHRHR <a_gene symbol="GJA1" name="gap junction protein, alpha 1, 43kDa"/> http://ghr.nlm.nih.gov/gene/GJA1 <a_gene symbol="GJB1" name="gap junction protein, beta 1, 32kDa"/> http://ghr.nlm.nih.gov/gene/GJB1 <a_gene symbol="GJB2" name="gap junction protein, beta 2, 26kDa"/> http://ghr.nlm.nih.gov/gene/GJB2 <a_gene symbol="GJB3" name="gap junction protein, beta 3, 31kDa"/> http://ghr.nlm.nih.gov/gene/GJB3 <a_gene symbol="GJB6" name="gap junction protein, beta 6, 30kDa"/> http://ghr.nlm.nih.gov/gene/GJB6 <a_gene symbol="GLA" name="galactosidase, alpha"/> http://ghr.nlm.nih.gov/gene/GLA <a_gene symbol="GLB1" name="galactosidase, beta 1"/> http://ghr.nlm.nih.gov/gene/GLB1 <a_gene symbol="GLDC" name="glycine dehydrogenase (decarboxylating)"/> http://ghr.nlm.nih.gov/gene/GLDC <a_gene symbol="GLI3" name="GLI family zinc finger 3"/> http://ghr.nlm.nih.gov/gene/GLI3 <a_gene symbol="GLRA1" name="glycine receptor, alpha 1"/> http://ghr.nlm.nih.gov/gene/GLRA1 <a_gene symbol="GM2A" name="GM2 ganglioside activator"/> http://ghr.nlm.nih.gov/gene/GM2A <a_gene symbol="GNAI3" name="guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3"/> http://ghr.nlm.nih.gov/gene/GNAI3 <a_gene symbol="GNAS" name="GNAS complex locus"/> http://ghr.nlm.nih.gov/gene/GNAS <a_gene symbol="GNAT2" name="guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2"/> http://ghr.nlm.nih.gov/gene/GNAT2 <a_gene symbol="GNE" name="glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase"/> http://ghr.nlm.nih.gov/gene/GNE <a_gene symbol="GNMT" name="glycine N-methyltransferase"/> http://ghr.nlm.nih.gov/gene/GNMT <a_gene symbol="GNPAT" name="glyceronephosphate O-acyltransferase"/> http://ghr.nlm.nih.gov/gene/GNPAT <a_gene symbol="GNPTAB" name="N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits"/> http://ghr.nlm.nih.gov/gene/GNPTAB <a_gene symbol="GNPTG" name="N-acetylglucosamine-1-phosphate transferase, gamma subunit"/> http://ghr.nlm.nih.gov/gene/GNPTG <a_gene symbol="GNS" name="glucosamine (N-acetyl)-6-sulfatase"/> http://ghr.nlm.nih.gov/gene/GNS <a_gene symbol="GPC3" name="glypican 3"/> http://ghr.nlm.nih.gov/gene/GPC3 <a_gene symbol="GPR56" name="G protein-coupled receptor 56"/> http://ghr.nlm.nih.gov/gene/GPR56 <a_gene symbol="GPR98" name="G protein-coupled receptor 98"/> http://ghr.nlm.nih.gov/gene/GPR98 <a_gene symbol="GPR143" name="G protein-coupled receptor 143"/> http://ghr.nlm.nih.gov/gene/GPR143 <a_gene symbol="GRHPR" name="glyoxylate reductase/hydroxypyruvate reductase"/> http://ghr.nlm.nih.gov/gene/GRHPR <a_gene symbol="GRN" name="granulin"/> http://ghr.nlm.nih.gov/gene/GRN <a_gene symbol="GSN" name="gelsolin"/> http://ghr.nlm.nih.gov/gene/GSN <a_gene symbol="GSS" name="glutathione synthetase"/> http://ghr.nlm.nih.gov/gene/GSS <a_gene symbol="GTF2H5" name="general transcription factor IIH, polypeptide 5"/> http://ghr.nlm.nih.gov/gene/GTF2H5 <a_gene symbol="GTF2I" name="general transcription factor IIi"/> http://ghr.nlm.nih.gov/gene/GTF2I <a_gene symbol="GTF2IRD1" name="GTF2I repeat domain containing 1"/> http://ghr.nlm.nih.gov/gene/GTF2IRD1 <a_gene symbol="GUCY2D" name="guanylate cyclase 2D, membrane (retina-specific)"/> http://ghr.nlm.nih.gov/gene/GUCY2D <a_gene symbol="GUSB" name="glucuronidase, beta"/> http://ghr.nlm.nih.gov/gene/GUSB <a_gene symbol="H19" name="H19, imprinted maternally expressed transcript (non-protein coding)"/> http://ghr.nlm.nih.gov/gene/H19 <a_gene symbol="HADH" name="hydroxyacyl-CoA dehydrogenase"/> http://ghr.nlm.nih.gov/gene/HADH <a_gene symbol="HADHA" name="hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit"/> http://ghr.nlm.nih.gov/gene/HADHA <a_gene symbol="HADHB" name="hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit"/> http://ghr.nlm.nih.gov/gene/HADHB <a_gene symbol="HAL" name="histidine ammonia-lyase"/> http://ghr.nlm.nih.gov/gene/HAL <a_gene symbol="HAMP" name="hepcidin antimicrobial peptide"/> http://ghr.nlm.nih.gov/gene/HAMP <a_gene symbol="HAX1" name="HCLS1 associated protein X-1"/> http://ghr.nlm.nih.gov/gene/HAX1 <a_gene symbol="HBA1" name="hemoglobin, alpha 1"/> http://ghr.nlm.nih.gov/gene/HBA1 <a_gene symbol="HBA2" name="hemoglobin, alpha 2"/> http://ghr.nlm.nih.gov/gene/HBA2 <a_gene symbol="HBB" name="hemoglobin, beta"/> http://ghr.nlm.nih.gov/gene/HBB <a_gene symbol="HCCS" name="holocytochrome c synthase"/> http://ghr.nlm.nih.gov/gene/HCCS <a_gene symbol="HES7" name="hairy and enhancer of split 7 (Drosophila)"/> http://ghr.nlm.nih.gov/gene/HES7 <a_gene symbol="HESX1" name="HESX homeobox 1"/> http://ghr.nlm.nih.gov/gene/HESX1 <a_gene symbol="HEXA" name="hexosaminidase A (alpha polypeptide)"/> http://ghr.nlm.nih.gov/gene/HEXA <a_gene symbol="HEXB" name="hexosaminidase B (beta polypeptide)"/> http://ghr.nlm.nih.gov/gene/HEXB <a_gene symbol="HFE" name="hemochromatosis"/> http://ghr.nlm.nih.gov/gene/HFE <a_gene symbol="HFE2" name="hemochromatosis type 2 (juvenile)"/> http://ghr.nlm.nih.gov/gene/HFE2 <a_gene symbol="HGD" name="homogentisate 1,2-dioxygenase"/> http://ghr.nlm.nih.gov/gene/HGD <a_gene symbol="HGSNAT" name="heparan-alpha-glucosaminide N-acetyltransferase"/> http://ghr.nlm.nih.gov/gene/HGSNAT <a_gene symbol="HLA-B" name="major histocompatibility complex, class I, B"/> http://ghr.nlm.nih.gov/gene/HLA-B <a_gene symbol="HLA-DQA1" name="major histocompatibility complex, class II, DQ alpha 1"/> http://ghr.nlm.nih.gov/gene/HLA-DQA1 <a_gene symbol="HLA-DQB1" name="major histocompatibility complex, class II, DQ beta 1"/> http://ghr.nlm.nih.gov/gene/HLA-DQB1 <a_gene symbol="HLA-DRB1" name="major histocompatibility complex, class II, DR beta 1"/> http://ghr.nlm.nih.gov/gene/HLA-DRB1 <a_gene symbol="HLCS" name="holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)"/> http://ghr.nlm.nih.gov/gene/HLCS <a_gene symbol="HMBS" name="hydroxymethylbilane synthase"/> http://ghr.nlm.nih.gov/gene/HMBS <a_gene symbol="HMGCL" name="3-hydroxymethyl-3-methylglutaryl-CoA lyase"/> http://ghr.nlm.nih.gov/gene/HMGCL <a_gene symbol="HOXA13" name="homeobox A13"/> http://ghr.nlm.nih.gov/gene/HOXA13 <a_gene symbol="HPD" name="4-hydroxyphenylpyruvate dioxygenase"/> http://ghr.nlm.nih.gov/gene/HPD <a_gene symbol="HPRT1" name="hypoxanthine phosphoribosyltransferase 1"/> http://ghr.nlm.nih.gov/gene/HPRT1 <a_gene symbol="HPS1" name="Hermansky-Pudlak syndrome 1"/> http://ghr.nlm.nih.gov/gene/HPS1 <a_gene symbol="HPS3" name="Hermansky-Pudlak syndrome 3"/> http://ghr.nlm.nih.gov/gene/HPS3 <a_gene symbol="HPSE2" name="heparanase 2"/> http://ghr.nlm.nih.gov/gene/HPSE2 <a_gene symbol="HRAS" name="v-Ha-ras Harvey rat sarcoma viral oncogene homolog"/> http://ghr.nlm.nih.gov/gene/HRAS <a_gene symbol="HS1BP3" name="HCLS1 binding protein 3"/> http://ghr.nlm.nih.gov/gene/HS1BP3 <a_gene symbol="HSD3B2" name="hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2"/> http://ghr.nlm.nih.gov/gene/HSD3B2 <a_gene symbol="HSD17B3" name="hydroxysteroid (17-beta) dehydrogenase 3"/> http://ghr.nlm.nih.gov/gene/HSD17B3 <a_gene symbol="HSD17B10" name="hydroxysteroid (17-beta) dehydrogenase 10"/> http://ghr.nlm.nih.gov/gene/HSD17B10 <a_gene symbol="HSPB1" name="heat shock 27kDa protein 1"/> http://ghr.nlm.nih.gov/gene/HSPB1 <a_gene symbol="HSPB8" name="heat shock 22kDa protein 8"/> http://ghr.nlm.nih.gov/gene/HSPB8 <a_gene symbol="HTRA1" name="HtrA serine peptidase 1"/> http://ghr.nlm.nih.gov/gene/HTRA1 <a_gene symbol="HTT" name="huntingtin"/> http://ghr.nlm.nih.gov/gene/HTT <a_gene symbol="IDS" name="iduronate 2-sulfatase"/> http://ghr.nlm.nih.gov/gene/IDS <a_gene symbol="IDUA" name="iduronidase, alpha-L-"/> http://ghr.nlm.nih.gov/gene/IDUA <a_gene symbol="IFT80" name="intraflagellar transport 80 homolog (Chlamydomonas)"/> http://ghr.nlm.nih.gov/gene/IFT80 <a_gene symbol="IFT140" name="intraflagellar transport 140 homolog (Chlamydomonas)"/> http://ghr.nlm.nih.gov/gene/IFT140 <a_gene symbol="IGF2" name="insulin-like growth factor 2 (somatomedin A)"/> http://ghr.nlm.nih.gov/gene/IGF2 <a_gene symbol="IGHMBP2" name="immunoglobulin mu binding protein 2"/> http://ghr.nlm.nih.gov/gene/IGHMBP2 <a_gene symbol="IKBKAP" name="inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein"/> http://ghr.nlm.nih.gov/gene/IKBKAP <a_gene symbol="IKBKG" name="inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma"/> http://ghr.nlm.nih.gov/gene/IKBKG <a_gene symbol="IL1A" name="interleukin 1, alpha"/> http://ghr.nlm.nih.gov/gene/IL1A <a_gene symbol="IL2RG" name="interleukin 2 receptor, gamma"/> http://ghr.nlm.nih.gov/gene/IL2RG <a_gene symbol="IL7R" name="interleukin 7 receptor"/> http://ghr.nlm.nih.gov/gene/IL7R <a_gene symbol="IL23R" name="interleukin 23 receptor"/> http://ghr.nlm.nih.gov/gene/IL23R <a_gene symbol="INS" name="insulin"/> http://ghr.nlm.nih.gov/gene/INS <a_gene symbol="IRAK4" name="interleukin-1 receptor-associated kinase 4"/> http://ghr.nlm.nih.gov/gene/IRAK4 <a_gene symbol="IRF5" name="interferon regulatory factor 5"/> http://ghr.nlm.nih.gov/gene/IRF5 <a_gene symbol="IRF6" name="interferon regulatory factor 6"/> http://ghr.nlm.nih.gov/gene/IRF6 <a_gene symbol="IRGM" name="immunity-related GTPase family, M"/> http://ghr.nlm.nih.gov/gene/IRGM <a_gene symbol="ISCU" name="iron-sulfur cluster scaffold homolog (E. coli)"/> http://ghr.nlm.nih.gov/gene/ISCU <a_gene symbol="ITGA6" name="integrin, alpha 6"/> http://ghr.nlm.nih.gov/gene/ITGA6 <a_gene symbol="ITGB4" name="integrin, beta 4"/> http://ghr.nlm.nih.gov/gene/ITGB4 <a_gene symbol="ITM2B" name="integral membrane protein 2B"/> http://ghr.nlm.nih.gov/gene/ITM2B <a_gene symbol="ITPKC" name="inositol-trisphosphate 3-kinase C"/> http://ghr.nlm.nih.gov/gene/ITPKC <a_gene symbol="IVD" name="isovaleryl-CoA dehydrogenase"/> http://ghr.nlm.nih.gov/gene/IVD <a_gene symbol="JAG1" name="jagged 1"/> http://ghr.nlm.nih.gov/gene/JAG1 <a_gene symbol="JAK2" name="Janus kinase 2"/> http://ghr.nlm.nih.gov/gene/JAK2 <a_gene symbol="JPH3" name="junctophilin 3"/> http://ghr.nlm.nih.gov/gene/JPH3 <a_gene symbol="KAL1" name="Kallmann syndrome 1 sequence"/> http://ghr.nlm.nih.gov/gene/KAL1 <a_gene symbol="KANSL1" name="KAT8 regulatory NSL complex subunit 1"/> http://ghr.nlm.nih.gov/gene/KANSL1 <a_gene symbol="KAT6B" name="K(lysine) acetyltransferase 6B"/> http://ghr.nlm.nih.gov/gene/KAT6B <a_gene symbol="KCNA1" name="potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)"/> http://ghr.nlm.nih.gov/gene/KCNA1 <a_gene symbol="KCNE1" name="potassium voltage-gated channel, Isk-related family, member 1"/> http://ghr.nlm.nih.gov/gene/KCNE1 <a_gene symbol="KCNE2" name="potassium voltage-gated channel, Isk-related family, member 2"/> http://ghr.nlm.nih.gov/gene/KCNE2 <a_gene symbol="KCNH2" name="potassium voltage-gated channel, subfamily H (eag-related), member 2"/> http://ghr.nlm.nih.gov/gene/KCNH2 <a_gene symbol="KCNJ1" name="potassium inwardly-rectifying channel, subfamily J, member 1"/> http://ghr.nlm.nih.gov/gene/KCNJ1 <a_gene symbol="KCNJ2" name="potassium inwardly-rectifying channel, subfamily J, member 2"/> http://ghr.nlm.nih.gov/gene/KCNJ2 <a_gene symbol="KCNJ11" name="potassium inwardly-rectifying channel, subfamily J, member 11"/> http://ghr.nlm.nih.gov/gene/KCNJ11 <a_gene symbol="KCNQ1" name="potassium voltage-gated channel, KQT-like subfamily, member 1"/> http://ghr.nlm.nih.gov/gene/KCNQ1 <a_gene symbol="KCNQ1OT1" name="KCNQ1 opposite strand/antisense transcript 1 (non-protein coding)"/> http://ghr.nlm.nih.gov/gene/KCNQ1OT1 <a_gene symbol="KCNQ2" name="potassium voltage-gated channel, KQT-like subfamily, member 2"/> http://ghr.nlm.nih.gov/gene/KCNQ2 <a_gene symbol="KCNQ3" name="potassium voltage-gated channel, KQT-like subfamily, member 3"/> http://ghr.nlm.nih.gov/gene/KCNQ3 <a_gene symbol="KCNQ4" name="potassium voltage-gated channel, KQT-like subfamily, member 4"/> http://ghr.nlm.nih.gov/gene/KCNQ4 <a_gene symbol="KIAA0196" name="KIAA0196"/> http://ghr.nlm.nih.gov/gene/KIAA0196 <a_gene symbol="KIF1B" name="kinesin family member 1B"/> http://ghr.nlm.nih.gov/gene/KIF1B <a_gene symbol="KIF21A" name="kinesin family member 21A"/> http://ghr.nlm.nih.gov/gene/KIF21A <a_gene symbol="KIT" name="v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog"/> http://ghr.nlm.nih.gov/gene/KIT <a_gene symbol="KL" name="klotho"/> http://ghr.nlm.nih.gov/gene/KL <a_gene symbol="KLLN" name="killin, p53-regulated DNA replication inhibitor"/> http://ghr.nlm.nih.gov/gene/KLLN <a_gene symbol="KMT2D" name="myeloid/lymphoid or mixed-lineage leukemia 2"/> http://ghr.nlm.nih.gov/gene/KMT2D <a_gene symbol="KRAS" name="v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"/> http://ghr.nlm.nih.gov/gene/KRAS <a_gene symbol="KRIT1" name="KRIT1, ankyrin repeat containing"/> http://ghr.nlm.nih.gov/gene/KRIT1 <a_gene symbol="KRT1" name="keratin 1"/> http://ghr.nlm.nih.gov/gene/KRT1 <a_gene symbol="KRT3" name="keratin 3"/> http://ghr.nlm.nih.gov/gene/KRT3 <a_gene symbol="KRT5" name="keratin 5"/> http://ghr.nlm.nih.gov/gene/KRT5 <a_gene symbol="KRT6A" name="keratin 6A"/> http://ghr.nlm.nih.gov/gene/KRT6A <a_gene symbol="KRT6B" name="keratin 6B"/> http://ghr.nlm.nih.gov/gene/KRT6B <a_gene symbol="KRT6C" name="keratin 6C"/> http://ghr.nlm.nih.gov/gene/KRT6C <a_gene symbol="KRT10" name="keratin 10"/> http://ghr.nlm.nih.gov/gene/KRT10 <a_gene symbol="KRT12" name="keratin 12"/> http://ghr.nlm.nih.gov/gene/KRT12 <a_gene symbol="KRT14" name="keratin 14"/> http://ghr.nlm.nih.gov/gene/KRT14 <a_gene symbol="KRT16" name="keratin 16"/> http://ghr.nlm.nih.gov/gene/KRT16 <a_gene symbol="KRT17" name="keratin 17"/> http://ghr.nlm.nih.gov/gene/KRT17 <a_gene symbol="KRT81" name="keratin 81"/> http://ghr.nlm.nih.gov/gene/KRT81 <a_gene symbol="KRT83" name="keratin 83"/> http://ghr.nlm.nih.gov/gene/KRT83 <a_gene symbol="KRT86" name="keratin 86"/> http://ghr.nlm.nih.gov/gene/KRT86 <a_gene symbol="L1CAM" name="L1 cell adhesion molecule"/> http://ghr.nlm.nih.gov/gene/L1CAM <a_gene symbol="L2HGDH" name="L-2-hydroxyglutarate dehydrogenase"/> http://ghr.nlm.nih.gov/gene/L2HGDH <a_gene symbol="LAMA3" name="laminin, alpha 3"/> http://ghr.nlm.nih.gov/gene/LAMA3 <a_gene symbol="LAMB3" name="laminin, beta 3"/> http://ghr.nlm.nih.gov/gene/LAMB3 <a_gene symbol="LAMC2" name="laminin, gamma 2"/> http://ghr.nlm.nih.gov/gene/LAMC2 <a_gene symbol="LAMP2" name="lysosomal-associated membrane protein 2"/> http://ghr.nlm.nih.gov/gene/LAMP2 <a_gene symbol="LBR" name="lamin B receptor"/> http://ghr.nlm.nih.gov/gene/LBR <a_gene symbol="LCT" name="lactase"/> http://ghr.nlm.nih.gov/gene/LCT <a_gene symbol="LDB3" name="LIM domain binding 3"/> http://ghr.nlm.nih.gov/gene/LDB3 <a_gene symbol="LDHA" name="lactate dehydrogenase A"/> http://ghr.nlm.nih.gov/gene/LDHA <a_gene symbol="LDHB" name="lactate dehydrogenase B"/> http://ghr.nlm.nih.gov/gene/LDHB <a_gene symbol="LDLR" name="low density lipoprotein receptor"/> http://ghr.nlm.nih.gov/gene/LDLR <a_gene symbol="LDLRAP1" name="low density lipoprotein receptor adaptor protein 1"/> http://ghr.nlm.nih.gov/gene/LDLRAP1 <a_gene symbol="LEPRE1" name="leucine proline-enriched proteoglycan (leprecan) 1"/> http://ghr.nlm.nih.gov/gene/LEPRE1 <a_gene symbol="LETM1" name="leucine zipper-EF-hand containing transmembrane protein 1"/> http://ghr.nlm.nih.gov/gene/LETM1 <a_gene symbol="LFNG" name="LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase"/> http://ghr.nlm.nih.gov/gene/LFNG <a_gene symbol="LGI1" name="leucine-rich, glioma inactivated 1"/> http://ghr.nlm.nih.gov/gene/LGI1 <a_gene symbol="LHCGR" name="luteinizing hormone/choriogonadotropin receptor"/> http://ghr.nlm.nih.gov/gene/LHCGR <a_gene symbol="LHFPL5" name="lipoma HMGIC fusion partner-like 5"/> http://ghr.nlm.nih.gov/gene/LHFPL5 <a_gene symbol="LIMK1" name="LIM domain kinase 1"/> http://ghr.nlm.nih.gov/gene/LIMK1 <a_gene symbol="LIPA" name="lipase A, lysosomal acid, cholesterol esterase"/> http://ghr.nlm.nih.gov/gene/LIPA <a_gene symbol="LIPH" name="lipase, member H"/> http://ghr.nlm.nih.gov/gene/LIPH <a_gene symbol="LITAF" name="lipopolysaccharide-induced TNF factor"/> http://ghr.nlm.nih.gov/gene/LITAF <a_gene symbol="LMNA" name="lamin A/C"/> http://ghr.nlm.nih.gov/gene/LMNA <a_gene symbol="LMX1B" name="LIM homeobox transcription factor 1, beta"/> http://ghr.nlm.nih.gov/gene/LMX1B <a_gene symbol="LOR" name="loricrin"/> http://ghr.nlm.nih.gov/gene/LOR <a_gene symbol="LPAR6" name="lysophosphatidic acid receptor 6"/> http://ghr.nlm.nih.gov/gene/LPAR6 <a_gene symbol="LPIN2" name="lipin 2"/> http://ghr.nlm.nih.gov/gene/LPIN2 <a_gene symbol="LPL" name="lipoprotein lipase"/> http://ghr.nlm.nih.gov/gene/LPL <a_gene symbol="LRP2" name="low density lipoprotein receptor-related protein 2"/> http://ghr.nlm.nih.gov/gene/LRP2 <a_gene symbol="LRP5" name="low density lipoprotein receptor-related protein 5"/> http://ghr.nlm.nih.gov/gene/LRP5 <a_gene symbol="LRRK2" name="leucine-rich repeat kinase 2"/> http://ghr.nlm.nih.gov/gene/LRRK2 <a_gene symbol="LYST" name="lysosomal trafficking regulator"/> http://ghr.nlm.nih.gov/gene/LYST <a_gene symbol="MAN2B1" name="mannosidase, alpha, class 2B, member 1"/> http://ghr.nlm.nih.gov/gene/MAN2B1 <a_gene symbol="MANBA" name="mannosidase, beta A, lysosomal"/> http://ghr.nlm.nih.gov/gene/MANBA <a_gene symbol="MAP2K1" name="mitogen-activated protein kinase kinase 1"/> http://ghr.nlm.nih.gov/gene/MAP2K1 <a_gene symbol="MAP2K2" name="mitogen-activated protein kinase kinase 2"/> http://ghr.nlm.nih.gov/gene/MAP2K2 <a_gene symbol="MAPT" name="microtubule-associated protein tau"/> http://ghr.nlm.nih.gov/gene/MAPT <a_gene symbol="MAT1A" name="methionine adenosyltransferase I, alpha"/> http://ghr.nlm.nih.gov/gene/MAT1A <a_gene symbol="MATN3" name="matrilin 3"/> http://ghr.nlm.nih.gov/gene/MATN3 <a_gene symbol="MATR3" name="matrin 3"/> http://ghr.nlm.nih.gov/gene/MATR3 <a_gene symbol="MBL2" name="mannose-binding lectin (protein C) 2, soluble"/> http://ghr.nlm.nih.gov/gene/MBL2 <a_gene symbol="MC1R" name="melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)"/> http://ghr.nlm.nih.gov/gene/MC1R <a_gene symbol="MCCC1" name="methylcrotonoyl-CoA carboxylase 1 (alpha)"/> http://ghr.nlm.nih.gov/gene/MCCC1 <a_gene symbol="MCCC2" name="methylcrotonoyl-CoA carboxylase 2 (beta)"/> http://ghr.nlm.nih.gov/gene/MCCC2 <a_gene symbol="MCEE" name="methylmalonyl CoA epimerase"/> http://ghr.nlm.nih.gov/gene/MCEE <a_gene symbol="MCM6" name="minichromosome maintenance complex component 6"/> http://ghr.nlm.nih.gov/gene/MCM6 <a_gene symbol="MCOLN1" name="mucolipin 1"/> http://ghr.nlm.nih.gov/gene/MCOLN1 <a_gene symbol="MECP2" name="methyl CpG binding protein 2 (Rett syndrome)"/> http://ghr.nlm.nih.gov/gene/MECP2 <a_gene symbol="MED12" name="mediator complex subunit 12"/> http://ghr.nlm.nih.gov/gene/MED12 <a_gene symbol="MEFV" name="Mediterranean fever"/> http://ghr.nlm.nih.gov/gene/MEFV <a_gene symbol="MEGF8" name="multiple EGF-like-domains 8"/> http://ghr.nlm.nih.gov/gene/MEGF8 <a_gene symbol="MEN1" name="multiple endocrine neoplasia I"/> http://ghr.nlm.nih.gov/gene/MEN1 <a_gene symbol="MESP2" name="mesoderm posterior 2 homolog (mouse)"/> http://ghr.nlm.nih.gov/gene/MESP2 <a_gene symbol="MFN2" name="mitofusin 2"/> http://ghr.nlm.nih.gov/gene/MFN2 <a_gene symbol="MID1" name="midline 1 (Opitz/BBB syndrome)"/> http://ghr.nlm.nih.gov/gene/MID1 <a_gene symbol="MITF" name="microphthalmia-associated transcription factor"/> http://ghr.nlm.nih.gov/gene/MITF <a_gene symbol="MKKS" name="McKusick-Kaufman syndrome"/> http://ghr.nlm.nih.gov/gene/MKKS <a_gene symbol="MLC1" name="megalencephalic leukoencephalopathy with subcortical cysts 1"/> http://ghr.nlm.nih.gov/gene/MLC1 <a_gene symbol="MLH1" name="mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)"/> http://ghr.nlm.nih.gov/gene/MLH1 <a_gene symbol="MLYCD" name="malonyl-CoA decarboxylase"/> http://ghr.nlm.nih.gov/gene/MLYCD <a_gene symbol="MMAA" name="methylmalonic aciduria (cobalamin deficiency) cblA type"/> http://ghr.nlm.nih.gov/gene/MMAA <a_gene symbol="MMAB" name="methylmalonic aciduria (cobalamin deficiency) cblB type"/> http://ghr.nlm.nih.gov/gene/MMAB <a_gene symbol="MMADHC" name="methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria"/> http://ghr.nlm.nih.gov/gene/MMADHC <a_gene symbol="MMP20" name="matrix metallopeptidase 20"/> http://ghr.nlm.nih.gov/gene/MMP20 <a_gene symbol="MPL" name="myeloproliferative leukemia virus oncogene"/> http://ghr.nlm.nih.gov/gene/MPL <a_gene symbol="MPLKIP" name="M-phase specific PLK1 interacting protein"/> http://ghr.nlm.nih.gov/gene/MPLKIP <a_gene symbol="MPV17" name="MpV17 mitochondrial inner membrane protein"/> http://ghr.nlm.nih.gov/gene/MPV17 <a_gene symbol="MPZ" name="myelin protein zero"/> http://ghr.nlm.nih.gov/gene/MPZ <a_gene symbol="MSH2" name="mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)"/> http://ghr.nlm.nih.gov/gene/MSH2 <a_gene symbol="MSH6" name="mutS homolog 6 (E. coli)"/> http://ghr.nlm.nih.gov/gene/MSH6 <a_gene symbol="MSTN" name="myostatin"/> http://ghr.nlm.nih.gov/gene/MSTN <a_gene symbol="MSX1" name="msh homeobox 1"/> http://ghr.nlm.nih.gov/gene/MSX1 <a_gene symbol="MSX2" name="msh homeobox 2"/> http://ghr.nlm.nih.gov/gene/MSX2 <a_gene symbol="MT-ATP6" name="mitochondrially encoded ATP synthase 6"/> http://ghr.nlm.nih.gov/gene/MT-ATP6 <a_gene symbol="MT-ND1" name="mitochondrially encoded NADH dehydrogenase 1"/> http://ghr.nlm.nih.gov/gene/MT-ND1 <a_gene symbol="MT-ND4" name="mitochondrially encoded NADH dehydrogenase 4"/> http://ghr.nlm.nih.gov/gene/MT-ND4 <a_gene symbol="MT-ND4L" name="mitochondrially encoded NADH dehydrogenase 4L"/> http://ghr.nlm.nih.gov/gene/MT-ND4L <a_gene symbol="MT-ND5" name="mitochondrially encoded NADH dehydrogenase 5"/> http://ghr.nlm.nih.gov/gene/MT-ND5 <a_gene symbol="MT-ND6" name="mitochondrially encoded NADH dehydrogenase 6"/> http://ghr.nlm.nih.gov/gene/MT-ND6 <a_gene symbol="MT-RNR1" name="mitochondrially encoded 12S RNA"/> http://ghr.nlm.nih.gov/gene/MT-RNR1 <a_gene symbol="MT-TE" name="mitochondrially encoded tRNA glutamic acid"/> http://ghr.nlm.nih.gov/gene/MT-TE <a_gene symbol="MT-TH" name="mitochondrially encoded tRNA histidine"/> http://ghr.nlm.nih.gov/gene/MT-TH <a_gene symbol="MT-TK" name="mitochondrially encoded tRNA lysine"/> http://ghr.nlm.nih.gov/gene/MT-TK <a_gene symbol="MT-TL1" name="mitochondrially encoded tRNA leucine 1 (UUA/G)"/> http://ghr.nlm.nih.gov/gene/MT-TL1 <a_gene symbol="MT-TS1" name="mitochondrially encoded tRNA serine 1 (UCN)"/> http://ghr.nlm.nih.gov/gene/MT-TS1 <a_gene symbol="MT-TV" name="mitochondrially encoded tRNA valine"/> http://ghr.nlm.nih.gov/gene/MT-TV <a_gene symbol="MTHFR" name="methylenetetrahydrofolate reductase (NAD(P)H)"/> http://ghr.nlm.nih.gov/gene/MTHFR <a_gene symbol="MTM1" name="myotubularin 1"/> http://ghr.nlm.nih.gov/gene/MTM1 <a_gene symbol="MTMR2" name="myotubularin related protein 2"/> http://ghr.nlm.nih.gov/gene/MTMR2 <a_gene symbol="MTR" name="5-methyltetrahydrofolate-homocysteine methyltransferase"/> http://ghr.nlm.nih.gov/gene/MTR <a_gene symbol="MTRR" name="5-methyltetrahydrofolate-homocysteine methyltransferase reductase"/> http://ghr.nlm.nih.gov/gene/MTRR <a_gene symbol="MTTP" name="microsomal triglyceride transfer protein"/> http://ghr.nlm.nih.gov/gene/MTTP <a_gene symbol="MUT" name="methylmalonyl CoA mutase"/> http://ghr.nlm.nih.gov/gene/MUT <a_gene symbol="MUTYH" name="mutY homolog (E. coli)"/> http://ghr.nlm.nih.gov/gene/MUTYH <a_gene symbol="MVK" name="mevalonate kinase"/> http://ghr.nlm.nih.gov/gene/MVK <a_gene symbol="MYBPC1" name="myosin binding protein C, slow type"/> http://ghr.nlm.nih.gov/gene/MYBPC1 <a_gene symbol="MYBPC3" name="myosin binding protein C, cardiac"/> http://ghr.nlm.nih.gov/gene/MYBPC3 <a_gene symbol="MYCN" name="v-myc myelocytomatosis viral related oncogene, neuroblastoma derived (avian)"/> http://ghr.nlm.nih.gov/gene/MYCN <a_gene symbol="MYH3" name="myosin, heavy chain 3, skeletal muscle, embryonic"/> http://ghr.nlm.nih.gov/gene/MYH3 <a_gene symbol="MYH7" name="myosin, heavy chain 7, cardiac muscle, beta"/> http://ghr.nlm.nih.gov/gene/MYH7 <a_gene symbol="MYH9" name="myosin, heavy chain 9, non-muscle"/> http://ghr.nlm.nih.gov/gene/MYH9 <a_gene symbol="MYO1A" name="myosin IA"/> http://ghr.nlm.nih.gov/gene/MYO1A <a_gene symbol="MYO6" name="myosin VI"/> http://ghr.nlm.nih.gov/gene/MYO6 <a_gene symbol="MYO7A" name="myosin VIIA"/> http://ghr.nlm.nih.gov/gene/MYO7A <a_gene symbol="MYO15A" name="myosin XVA"/> http://ghr.nlm.nih.gov/gene/MYO15A <a_gene symbol="MYOC" name="myocilin, trabecular meshwork inducible glucocorticoid response"/> http://ghr.nlm.nih.gov/gene/MYOC <a_gene symbol="MYOT" name="myotilin"/> http://ghr.nlm.nih.gov/gene/MYOT <a_gene symbol="NAGA" name="N-acetylgalactosaminidase, alpha-"/> http://ghr.nlm.nih.gov/gene/NAGA <a_gene symbol="NAGLU" name="N-acetylglucosaminidase, alpha"/> http://ghr.nlm.nih.gov/gene/NAGLU <a_gene symbol="NAGS" name="N-acetylglutamate synthase"/> http://ghr.nlm.nih.gov/gene/NAGS <a_gene symbol="NBN" name="nibrin"/> http://ghr.nlm.nih.gov/gene/NBN <a_gene symbol="NCF1" name="neutrophil cytosolic factor 1"/> http://ghr.nlm.nih.gov/gene/NCF1 <a_gene symbol="NCF2" name="neutrophil cytosolic factor 2"/> http://ghr.nlm.nih.gov/gene/NCF2 <a_gene symbol="NCF4" name="neutrophil cytosolic factor 4, 40kDa"/> http://ghr.nlm.nih.gov/gene/NCF4 <a_gene symbol="NDP" name="Norrie disease (pseudoglioma)"/> http://ghr.nlm.nih.gov/gene/NDP <a_gene symbol="NDRG1" name="N-myc downstream regulated 1"/> http://ghr.nlm.nih.gov/gene/NDRG1 <a_gene symbol="NEB" name="nebulin"/> http://ghr.nlm.nih.gov/gene/NEB <a_gene symbol="NEFH" name="neurofilament, heavy polypeptide"/> http://ghr.nlm.nih.gov/gene/NEFH <a_gene symbol="NEFL" name="neurofilament, light polypeptide"/> http://ghr.nlm.nih.gov/gene/NEFL <a_gene symbol="NEFM" name="neurofilament, medium polypeptide"/> http://ghr.nlm.nih.gov/gene/NEFM <a_gene symbol="NEU1" name="sialidase 1 (lysosomal sialidase)"/> http://ghr.nlm.nih.gov/gene/NEU1 <a_gene symbol="NF1" name="neurofibromin 1"/> http://ghr.nlm.nih.gov/gene/NF1 <a_gene symbol="NF2" name="neurofibromin 2 (merlin)"/> http://ghr.nlm.nih.gov/gene/NF2 <a_gene symbol="NGF" name="nerve growth factor (beta polypeptide)"/> http://ghr.nlm.nih.gov/gene/NGF <a_gene symbol="NHLRC1" name="NHL repeat containing 1"/> http://ghr.nlm.nih.gov/gene/NHLRC1 <a_gene symbol="NIPBL" name="Nipped-B homolog (Drosophila)"/> http://ghr.nlm.nih.gov/gene/NIPBL <a_gene symbol="NLRP1" name="NLR family, pyrin domain containing 1"/> http://ghr.nlm.nih.gov/gene/NLRP1 <a_gene symbol="NLRP3" name="NLR family, pyrin domain containing 3"/> http://ghr.nlm.nih.gov/gene/NLRP3 <a_gene symbol="NLRP12" name="NLR family, pyrin domain containing 12"/> http://ghr.nlm.nih.gov/gene/NLRP12 <a_gene symbol="NOD2" name="nucleotide-binding oligomerization domain containing 2"/> http://ghr.nlm.nih.gov/gene/NOD2 <a_gene symbol="NOG" name="noggin"/> http://ghr.nlm.nih.gov/gene/NOG <a_gene symbol="NOTCH2" name="notch 2"/> http://ghr.nlm.nih.gov/gene/NOTCH2 <a_gene symbol="NOTCH3" name="notch 3"/> http://ghr.nlm.nih.gov/gene/NOTCH3 <a_gene symbol="NPC1" name="Niemann-Pick disease, type C1"/> http://ghr.nlm.nih.gov/gene/NPC1 <a_gene symbol="NPC2" name="Niemann-Pick disease, type C2"/> http://ghr.nlm.nih.gov/gene/NPC2 <a_gene symbol="NR0B1" name="nuclear receptor subfamily 0, group B, member 1"/> http://ghr.nlm.nih.gov/gene/NR0B1 <a_gene symbol="NR3C2" name="nuclear receptor subfamily 3, group C, member 2"/> http://ghr.nlm.nih.gov/gene/NR3C2 <a_gene symbol="NR4A2" name="nuclear receptor subfamily 4, group A, member 2"/> http://ghr.nlm.nih.gov/gene/NR4A2 <a_gene symbol="NR5A1" name="nuclear receptor subfamily 5, group A, member 1"/> http://ghr.nlm.nih.gov/gene/NR5A1 <a_gene symbol="NRAS" name="neuroblastoma RAS viral (v-ras) oncogene homolog"/> http://ghr.nlm.nih.gov/gene/NRAS <a_gene symbol="NSD1" name="nuclear receptor binding SET domain protein 1"/> http://ghr.nlm.nih.gov/gene/NSD1 <a_gene symbol="NSDHL" name="NAD(P) dependent steroid dehydrogenase-like"/> http://ghr.nlm.nih.gov/gene/NSDHL <a_gene symbol="NTRK1" name="neurotrophic tyrosine kinase, receptor, type 1"/> http://ghr.nlm.nih.gov/gene/NTRK1 <a_gene symbol="NYX" name="nyctalopin"/> http://ghr.nlm.nih.gov/gene/NYX <a_gene symbol="OAT" name="ornithine aminotransferase"/> http://ghr.nlm.nih.gov/gene/OAT <a_gene symbol="OCA2" name="oculocutaneous albinism II"/> http://ghr.nlm.nih.gov/gene/OCA2 <a_gene symbol="OCRL" name="oculocerebrorenal syndrome of Lowe"/> http://ghr.nlm.nih.gov/gene/OCRL <a_gene symbol="OFD1" name="oral-facial-digital syndrome 1"/> http://ghr.nlm.nih.gov/gene/OFD1 <a_gene symbol="OPA1" name="optic atrophy 1 (autosomal dominant)"/> http://ghr.nlm.nih.gov/gene/OPA1 <a_gene symbol="OPA3" name="optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)"/> http://ghr.nlm.nih.gov/gene/OPA3 <a_gene symbol="OPN1LW" name="opsin 1 (cone pigments), long-wave-sensitive"/> http://ghr.nlm.nih.gov/gene/OPN1LW <a_gene symbol="OPN1MW" name="opsin 1 (cone pigments), medium-wave-sensitive"/> http://ghr.nlm.nih.gov/gene/OPN1MW <a_gene symbol="OPN1SW" name="opsin 1 (cone pigments), short-wave-sensitive"/> http://ghr.nlm.nih.gov/gene/OPN1SW <a_gene symbol="OTC" name="ornithine carbamoyltransferase"/> http://ghr.nlm.nih.gov/gene/OTC <a_gene symbol="OTOF" name="otoferlin"/> http://ghr.nlm.nih.gov/gene/OTOF <a_gene symbol="OTX2" name="orthodenticle homeobox 2"/> http://ghr.nlm.nih.gov/gene/OTX2 <a_gene symbol="OXCT1" name="3-oxoacid CoA transferase 1"/> http://ghr.nlm.nih.gov/gene/OXCT1 <a_gene symbol="PABPN1" name="poly(A) binding protein, nuclear 1"/> http://ghr.nlm.nih.gov/gene/PABPN1 <a_gene symbol="PAFAH1B1" name="platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)"/> http://ghr.nlm.nih.gov/gene/PAFAH1B1 <a_gene symbol="PAH" name="phenylalanine hydroxylase"/> http://ghr.nlm.nih.gov/gene/PAH <a_gene symbol="PALB2" name="partner and localizer of BRCA2"/> http://ghr.nlm.nih.gov/gene/PALB2 <a_gene symbol="PANK2" name="pantothenate kinase 2"/> http://ghr.nlm.nih.gov/gene/PANK2 <a_gene symbol="PARK2" name="parkinson protein 2, E3 ubiquitin protein ligase (parkin)"/> http://ghr.nlm.nih.gov/gene/PARK2 <a_gene symbol="PARK7" name="parkinson protein 7"/> http://ghr.nlm.nih.gov/gene/PARK7 <a_gene symbol="PAX2" name="paired box 2"/> http://ghr.nlm.nih.gov/gene/PAX2 <a_gene symbol="PAX3" name="paired box 3"/> http://ghr.nlm.nih.gov/gene/PAX3 <a_gene symbol="PAX6" name="paired box 6"/> http://ghr.nlm.nih.gov/gene/PAX6 <a_gene symbol="PAX8" name="paired box 8"/> http://ghr.nlm.nih.gov/gene/PAX8 <a_gene symbol="PC" name="pyruvate carboxylase"/> http://ghr.nlm.nih.gov/gene/PC <a_gene symbol="PCBD1" name="pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha"/> http://ghr.nlm.nih.gov/gene/PCBD1 <a_gene symbol="PCCA" name="propionyl CoA carboxylase, alpha polypeptide"/> http://ghr.nlm.nih.gov/gene/PCCA <a_gene symbol="PCCB" name="propionyl CoA carboxylase, beta polypeptide"/> http://ghr.nlm.nih.gov/gene/PCCB <a_gene symbol="PCDH15" name="protocadherin-related 15"/> http://ghr.nlm.nih.gov/gene/PCDH15 <a_gene symbol="PCNT" name="pericentrin"/> http://ghr.nlm.nih.gov/gene/PCNT <a_gene symbol="PCSK9" name="proprotein convertase subtilisin/kexin type 9"/> http://ghr.nlm.nih.gov/gene/PCSK9 <a_gene symbol="PDCD10" name="programmed cell death 10"/> http://ghr.nlm.nih.gov/gene/PDCD10 <a_gene symbol="PDGFB" name="platelet-derived growth factor beta polypeptide"/> http://ghr.nlm.nih.gov/gene/PDGFB <a_gene symbol="PDGFRA" name="platelet-derived growth factor receptor, alpha polypeptide"/> http://ghr.nlm.nih.gov/gene/PDGFRA <a_gene symbol="PDGFRB" name="platelet-derived growth factor receptor, beta polypeptide"/> http://ghr.nlm.nih.gov/gene/PDGFRB <a_gene symbol="PDHA1" name="pyruvate dehydrogenase (lipoamide) alpha 1"/> http://ghr.nlm.nih.gov/gene/PDHA1 <a_gene symbol="PDHB" name="pyruvate dehydrogenase (lipoamide) beta"/> http://ghr.nlm.nih.gov/gene/PDHB <a_gene symbol="PDHX" name="pyruvate dehydrogenase complex, component X"/> http://ghr.nlm.nih.gov/gene/PDHX <a_gene symbol="PDP1" name="pyruvate dehydrogenase phosphatase catalytic subunit 1"/> http://ghr.nlm.nih.gov/gene/PDP1 <a_gene symbol="PEPD" name="peptidase D"/> http://ghr.nlm.nih.gov/gene/PEPD <a_gene symbol="PEX1" name="peroxisomal biogenesis factor 1"/> http://ghr.nlm.nih.gov/gene/PEX1 <a_gene symbol="PEX7" name="peroxisomal biogenesis factor 7"/> http://ghr.nlm.nih.gov/gene/PEX7 <a_gene symbol="PGAM2" name="phosphoglycerate mutase 2 (muscle)"/> http://ghr.nlm.nih.gov/gene/PGAM2 <a_gene symbol="PGK1" name="phosphoglycerate kinase 1"/> http://ghr.nlm.nih.gov/gene/PGK1 <a_gene symbol="PHEX" name="phosphate regulating endopeptidase homolog, X-linked"/> http://ghr.nlm.nih.gov/gene/PHEX <a_gene symbol="PHKA1" name="phosphorylase kinase, alpha 1 (muscle)"/> http://ghr.nlm.nih.gov/gene/PHKA1 <a_gene symbol="PHKA2" name="phosphorylase kinase, alpha 2 (liver)"/> http://ghr.nlm.nih.gov/gene/PHKA2 <a_gene symbol="PHKB" name="phosphorylase kinase, beta"/> http://ghr.nlm.nih.gov/gene/PHKB <a_gene symbol="PHKG2" name="phosphorylase kinase, gamma 2 (testis)"/> http://ghr.nlm.nih.gov/gene/PHKG2 <a_gene symbol="PHOX2A" name="paired-like homeobox 2a"/> http://ghr.nlm.nih.gov/gene/PHOX2A <a_gene symbol="PHOX2B" name="paired-like homeobox 2b"/> http://ghr.nlm.nih.gov/gene/PHOX2B <a_gene symbol="PHYH" name="phytanoyl-CoA 2-hydroxylase"/> http://ghr.nlm.nih.gov/gene/PHYH <a_gene symbol="PIGA" name="phosphatidylinositol glycan anchor biosynthesis, class A"/> http://ghr.nlm.nih.gov/gene/PIGA <a_gene symbol="PINK1" name="PTEN induced putative kinase 1"/> http://ghr.nlm.nih.gov/gene/PINK1 <a_gene symbol="PITX2" name="paired-like homeodomain 2"/> http://ghr.nlm.nih.gov/gene/PITX2 <a_gene symbol="PKD1" name="polycystic kidney disease 1 (autosomal dominant)"/> http://ghr.nlm.nih.gov/gene/PKD1 <a_gene symbol="PKD2" name="polycystic kidney disease 2 (autosomal dominant)"/> http://ghr.nlm.nih.gov/gene/PKD2 <a_gene symbol="PKHD1" name="polycystic kidney and hepatic disease 1 (autosomal recessive)"/> http://ghr.nlm.nih.gov/gene/PKHD1 <a_gene symbol="PKLR" name="pyruvate kinase, liver and RBC"/> http://ghr.nlm.nih.gov/gene/PKLR <a_gene symbol="PKP2" name="plakophilin 2"/> http://ghr.nlm.nih.gov/gene/PKP2 <a_gene symbol="PLA2G6" name="phospholipase A2, group VI (cytosolic, calcium-independent)"/> http://ghr.nlm.nih.gov/gene/PLA2G6 <a_gene symbol="PLAGL1" name="pleiomorphic adenoma gene-like 1"/> http://ghr.nlm.nih.gov/gene/PLAGL1 <a_gene symbol="PLCB4" name="phospholipase C, beta 4"/> http://ghr.nlm.nih.gov/gene/PLCB4 <a_gene symbol="PLEC" name="plectin"/> http://ghr.nlm.nih.gov/gene/PLEC <a_gene symbol="PLG" name="plasminogen"/> http://ghr.nlm.nih.gov/gene/PLG <a_gene symbol="PLOD1" name="procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1"/> http://ghr.nlm.nih.gov/gene/PLOD1 <a_gene symbol="PLP1" name="proteolipid protein 1"/> http://ghr.nlm.nih.gov/gene/PLP1 <a_gene symbol="PML" name="promyelocytic leukemia"/> http://ghr.nlm.nih.gov/gene/PML <a_gene symbol="PMM2" name="phosphomannomutase 2"/> http://ghr.nlm.nih.gov/gene/PMM2 <a_gene symbol="PMP22" name="peripheral myelin protein 22"/> http://ghr.nlm.nih.gov/gene/PMP22 <a_gene symbol="PMS2" name="PMS2 postmeiotic segregation increased 2 (S. cerevisiae)"/> http://ghr.nlm.nih.gov/gene/PMS2 <a_gene symbol="PNKD" name="paroxysmal nonkinesigenic dyskinesia"/> http://ghr.nlm.nih.gov/gene/PNKD <a_gene symbol="PNP" name="purine nucleoside phosphorylase"/> http://ghr.nlm.nih.gov/gene/PNP <a_gene symbol="PNPLA2" name="patatin-like phospholipase domain containing 2"/> http://ghr.nlm.nih.gov/gene/PNPLA2 <a_gene symbol="PNPO" name="pyridoxamine 5'-phosphate oxidase"/> http://ghr.nlm.nih.gov/gene/PNPO <a_gene symbol="POLG" name="polymerase (DNA directed), gamma"/> http://ghr.nlm.nih.gov/gene/POLG <a_gene symbol="POLH" name="polymerase (DNA directed), eta"/> http://ghr.nlm.nih.gov/gene/POLH <a_gene symbol="POLR1C" name="polymerase (RNA) I polypeptide C, 30kDa"/> http://ghr.nlm.nih.gov/gene/POLR1C <a_gene symbol="POLR1D" name="polymerase (RNA) I polypeptide D, 16kDa"/> http://ghr.nlm.nih.gov/gene/POLR1D <a_gene symbol="POR" name="P450 (cytochrome) oxidoreductase"/> http://ghr.nlm.nih.gov/gene/POR <a_gene symbol="PORCN" name="porcupine homolog (Drosophila)"/> http://ghr.nlm.nih.gov/gene/PORCN <a_gene symbol="POU3F4" name="POU class 3 homeobox 4"/> http://ghr.nlm.nih.gov/gene/POU3F4 <a_gene symbol="PPOX" name="protoporphyrinogen oxidase"/> http://ghr.nlm.nih.gov/gene/PPOX <a_gene symbol="PPP1R12A" name="protein phosphatase 1, regulatory subunit 12A"/> http://ghr.nlm.nih.gov/gene/PPP1R12A <a_gene symbol="PPT1" name="palmitoyl-protein thioesterase 1"/> http://ghr.nlm.nih.gov/gene/PPT1 <a_gene symbol="PQBP1" name="polyglutamine binding protein 1"/> http://ghr.nlm.nih.gov/gene/PQBP1 <a_gene symbol="PRF1" name="perforin 1 (pore forming protein)"/> http://ghr.nlm.nih.gov/gene/PRF1 <a_gene symbol="PRICKLE1" name="prickle homolog 1 (Drosophila)"/> http://ghr.nlm.nih.gov/gene/PRICKLE1 <a_gene symbol="PRKAG2" name="protein kinase, AMP-activated, gamma 2 non-catalytic subunit"/> http://ghr.nlm.nih.gov/gene/PRKAG2 <a_gene symbol="PRKAR1A" name="protein kinase, cAMP-dependent, regulatory, type I, alpha"/> http://ghr.nlm.nih.gov/gene/PRKAR1A <a_gene symbol="PRNP" name="prion protein"/> http://ghr.nlm.nih.gov/gene/PRNP <a_gene symbol="PROC" name="protein C (inactivator of coagulation factors Va and VIIIa)"/> http://ghr.nlm.nih.gov/gene/PROC <a_gene symbol="PRODH" name="proline dehydrogenase (oxidase) 1"/> http://ghr.nlm.nih.gov/gene/PRODH <a_gene symbol="PROK2" name="prokineticin 2"/> http://ghr.nlm.nih.gov/gene/PROK2 <a_gene symbol="PROKR2" name="prokineticin receptor 2"/> http://ghr.nlm.nih.gov/gene/PROKR2 <a_gene symbol="PROP1" name="PROP paired-like homeobox 1"/> http://ghr.nlm.nih.gov/gene/PROP1 <a_gene symbol="PROS1" name="protein S (alpha)"/> http://ghr.nlm.nih.gov/gene/PROS1 <a_gene symbol="PRPH" name="peripherin"/> http://ghr.nlm.nih.gov/gene/PRPH <a_gene symbol="PRPH2" name="peripherin 2 (retinal degeneration, slow)"/> http://ghr.nlm.nih.gov/gene/PRPH2 <a_gene symbol="PRPS1" name="phosphoribosyl pyrophosphate synthetase 1"/> http://ghr.nlm.nih.gov/gene/PRPS1 <a_gene symbol="PRSS1" name="protease, serine, 1 (trypsin 1)"/> http://ghr.nlm.nih.gov/gene/PRSS1 <a_gene symbol="PRX" name="periaxin"/> http://ghr.nlm.nih.gov/gene/PRX <a_gene symbol="PSAP" name="prosaposin"/> http://ghr.nlm.nih.gov/gene/PSAP <a_gene symbol="PSEN1" name="presenilin 1"/> http://ghr.nlm.nih.gov/gene/PSEN1 <a_gene symbol="PSEN2" name="presenilin 2 (Alzheimer disease 4)"/> http://ghr.nlm.nih.gov/gene/PSEN2 <a_gene symbol="PTCH1" name="patched 1"/> http://ghr.nlm.nih.gov/gene/PTCH1 <a_gene symbol="PTEN" name="phosphatase and tensin homolog"/> http://ghr.nlm.nih.gov/gene/PTEN <a_gene symbol="PTPN11" name="protein tyrosine phosphatase, non-receptor type 11"/> http://ghr.nlm.nih.gov/gene/PTPN11 <a_gene symbol="PTPN22" name="protein tyrosine phosphatase, non-receptor type 22 (lymphoid)"/> http://ghr.nlm.nih.gov/gene/PTPN22 <a_gene symbol="PTS" name="6-pyruvoyltetrahydropterin synthase"/> http://ghr.nlm.nih.gov/gene/PTS <a_gene symbol="PYGL" name="phosphorylase, glycogen, liver"/> http://ghr.nlm.nih.gov/gene/PYGL <a_gene symbol="PYGM" name="phosphorylase, glycogen, muscle"/> http://ghr.nlm.nih.gov/gene/PYGM <a_gene symbol="QDPR" name="quinoid dihydropteridine reductase"/> http://ghr.nlm.nih.gov/gene/QDPR <a_gene symbol="RAB7A" name="RAB7A, member RAS oncogene family"/> http://ghr.nlm.nih.gov/gene/RAB7A <a_gene symbol="RAB23" name="RAB23, member RAS oncogene family"/> http://ghr.nlm.nih.gov/gene/RAB23 <a_gene symbol="RAD50" name="RAD50 homolog (S. cerevisiae)"/> http://ghr.nlm.nih.gov/gene/RAD50 <a_gene symbol="RAD51" name="RAD51 homolog (S. cerevisiae)"/> http://ghr.nlm.nih.gov/gene/RAD51 <a_gene symbol="RAF1" name="v-raf-1 murine leukemia viral oncogene homolog 1"/> http://ghr.nlm.nih.gov/gene/RAF1 <a_gene symbol="RAI1" name="retinoic acid induced 1"/> http://ghr.nlm.nih.gov/gene/RAI1 <a_gene symbol="RAPSN" name="receptor-associated protein of the synapse"/> http://ghr.nlm.nih.gov/gene/RAPSN <a_gene symbol="RARA" name="retinoic acid receptor, alpha"/> http://ghr.nlm.nih.gov/gene/RARA <a_gene symbol="RARS2" name="arginyl-tRNA synthetase 2, mitochondrial"/> http://ghr.nlm.nih.gov/gene/RARS2 <a_gene symbol="RASA1" name="RAS p21 protein activator (GTPase activating protein) 1"/> http://ghr.nlm.nih.gov/gene/RASA1 <a_gene symbol="RB1" name="retinoblastoma 1"/> http://ghr.nlm.nih.gov/gene/RB1 <a_gene symbol="RBM8A" name="RNA binding motif protein 8A"/> http://ghr.nlm.nih.gov/gene/RBM8A <a_gene symbol="RECQL4" name="RecQ protein-like 4"/> http://ghr.nlm.nih.gov/gene/RECQL4 <a_gene symbol="REN" name="renin"/> http://ghr.nlm.nih.gov/gene/REN <a_gene symbol="RET" name="ret proto-oncogene"/> http://ghr.nlm.nih.gov/gene/RET <a_gene symbol="RHO" name="rhodopsin"/> http://ghr.nlm.nih.gov/gene/RHO <a_gene symbol="RMRP" name="RNA component of mitochondrial RNA processing endoribonuclease"/> http://ghr.nlm.nih.gov/gene/RMRP <a_gene symbol="RNASEH2A" name="ribonuclease H2, subunit A"/> http://ghr.nlm.nih.gov/gene/RNASEH2A <a_gene symbol="RNASEH2B" name="ribonuclease H2, subunit B"/> http://ghr.nlm.nih.gov/gene/RNASEH2B <a_gene symbol="RNASEH2C" name="ribonuclease H2, subunit C"/> http://ghr.nlm.nih.gov/gene/RNASEH2C <a_gene symbol="ROBO3" name="roundabout, axon guidance receptor, homolog 3 (Drosophila)"/> http://ghr.nlm.nih.gov/gene/ROBO3 <a_gene symbol="ROR2" name="receptor tyrosine kinase-like orphan receptor 2"/> http://ghr.nlm.nih.gov/gene/ROR2 <a_gene symbol="RP2" name="retinitis pigmentosa 2 (X-linked recessive)"/> http://ghr.nlm.nih.gov/gene/RP2 <a_gene symbol="RPE65" name="retinal pigment epithelium-specific protein 65kDa"/> http://ghr.nlm.nih.gov/gene/RPE65 <a_gene symbol="RPGR" name="retinitis pigmentosa GTPase regulator"/> http://ghr.nlm.nih.gov/gene/RPGR <a_gene symbol="RPL5" name="ribosomal protein L5"/> http://ghr.nlm.nih.gov/gene/RPL5 <a_gene symbol="RPL11" name="ribosomal protein L11"/> http://ghr.nlm.nih.gov/gene/RPL11 <a_gene symbol="RPL35A" name="ribosomal protein L35a"/> http://ghr.nlm.nih.gov/gene/RPL35A <a_gene symbol="RPS6KA3" name="ribosomal protein S6 kinase, 90kDa, polypeptide 3"/> http://ghr.nlm.nih.gov/gene/RPS6KA3 <a_gene symbol="RPS7" name="ribosomal protein S7"/> http://ghr.nlm.nih.gov/gene/RPS7 <a_gene symbol="RPS10" name="ribosomal protein S10"/> http://ghr.nlm.nih.gov/gene/RPS10 <a_gene symbol="RPS17" name="ribosomal protein S17"/> http://ghr.nlm.nih.gov/gene/RPS17 <a_gene symbol="RPS19" name="ribosomal protein S19"/> http://ghr.nlm.nih.gov/gene/RPS19 <a_gene symbol="RPS24" name="ribosomal protein S24"/> http://ghr.nlm.nih.gov/gene/RPS24 <a_gene symbol="RPS26" name="ribosomal protein S26"/> http://ghr.nlm.nih.gov/gene/RPS26 <a_gene symbol="RS1" name="retinoschisin 1"/> http://ghr.nlm.nih.gov/gene/RS1 <a_gene symbol="RUNX2" name="runt-related transcription factor 2"/> http://ghr.nlm.nih.gov/gene/RUNX2 <a_gene symbol="RYR1" name="ryanodine receptor 1 (skeletal)"/> http://ghr.nlm.nih.gov/gene/RYR1 <a_gene symbol="RYR2" name="ryanodine receptor 2 (cardiac)"/> http://ghr.nlm.nih.gov/gene/RYR2 <a_gene symbol="SAA1" name="serum amyloid A1"/> http://ghr.nlm.nih.gov/gene/SAA1 <a_gene symbol="SACS" name="spastic ataxia of Charlevoix-Saguenay (sacsin)"/> http://ghr.nlm.nih.gov/gene/SACS <a_gene symbol="SALL1" name="sal-like 1 (Drosophila)"/> http://ghr.nlm.nih.gov/gene/SALL1 <a_gene symbol="SALL4" name="sal-like 4 (Drosophila)"/> http://ghr.nlm.nih.gov/gene/SALL4 <a_gene symbol="SAMHD1" name="SAM domain and HD domain 1"/> http://ghr.nlm.nih.gov/gene/SAMHD1 <a_gene symbol="SAR1B" name="SAR1 homolog B (S. cerevisiae)"/> http://ghr.nlm.nih.gov/gene/SAR1B <a_gene symbol="SBDS" name="Shwachman-Bodian-Diamond syndrome"/> http://ghr.nlm.nih.gov/gene/SBDS <a_gene symbol="SBF2" name="SET binding factor 2"/> http://ghr.nlm.nih.gov/gene/SBF2 <a_gene symbol="SCN1A" name="sodium channel, voltage-gated, type I, alpha subunit"/> http://ghr.nlm.nih.gov/gene/SCN1A <a_gene symbol="SCN4A" name="sodium channel, voltage-gated, type IV, alpha subunit"/> http://ghr.nlm.nih.gov/gene/SCN4A <a_gene symbol="SCN5A" name="sodium channel, voltage-gated, type V, alpha subunit"/> http://ghr.nlm.nih.gov/gene/SCN5A <a_gene symbol="SCN9A" name="sodium channel, voltage-gated, type IX, alpha subunit"/> http://ghr.nlm.nih.gov/gene/SCN9A <a_gene symbol="SCN10A" name="sodium channel, voltage-gated, type X, alpha subunit"/> http://ghr.nlm.nih.gov/gene/SCN10A <a_gene symbol="SCNN1A" name="sodium channel, non-voltage-gated 1 alpha subunit"/> http://ghr.nlm.nih.gov/gene/SCNN1A <a_gene symbol="SCNN1B" name="sodium channel, non-voltage-gated 1, beta subunit"/> http://ghr.nlm.nih.gov/gene/SCNN1B <a_gene symbol="SCNN1G" name="sodium channel, non-voltage-gated 1, gamma subunit"/> http://ghr.nlm.nih.gov/gene/SCNN1G <a_gene symbol="SDHA" name="succinate dehydrogenase complex, subunit A, flavoprotein (Fp)"/> http://ghr.nlm.nih.gov/gene/SDHA <a_gene symbol="SDHAF2" name="succinate dehydrogenase complex assembly factor 2"/> http://ghr.nlm.nih.gov/gene/SDHAF2 <a_gene symbol="SDHB" name="succinate dehydrogenase complex, subunit B, iron sulfur (Ip)"/> http://ghr.nlm.nih.gov/gene/SDHB <a_gene symbol="SDHC" name="succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa"/> http://ghr.nlm.nih.gov/gene/SDHC <a_gene symbol="SDHD" name="succinate dehydrogenase complex, subunit D, integral membrane protein"/> http://ghr.nlm.nih.gov/gene/SDHD <a_gene symbol="SEC23B" name="Sec23 homolog B (S. cerevisiae)"/> http://ghr.nlm.nih.gov/gene/SEC23B <a_gene symbol="SEPN1" name="selenoprotein N, 1"/> http://ghr.nlm.nih.gov/gene/SEPN1 <a_gene symbol="SEPT9" name="septin 9"/> http://ghr.nlm.nih.gov/gene/SEPT9 <a_gene symbol="SERPINA1" name="serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1"/> http://ghr.nlm.nih.gov/gene/SERPINA1 <a_gene symbol="SERPINA7" name="serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7"/> http://ghr.nlm.nih.gov/gene/SERPINA7 <a_gene symbol="SERPINC1" name="serpin peptidase inhibitor, clade C (antithrombin), member 1"/> http://ghr.nlm.nih.gov/gene/SERPINC1 <a_gene symbol="SERPING1" name="serpin peptidase inhibitor, clade G (C1 inhibitor), member 1"/> http://ghr.nlm.nih.gov/gene/SERPING1 <a_gene symbol="SERPINI1" name="serpin peptidase inhibitor, clade I (neuroserpin), member 1"/> http://ghr.nlm.nih.gov/gene/SERPINI1 <a_gene symbol="SETBP1" name="SET binding protein 1"/> http://ghr.nlm.nih.gov/gene/SETBP1 <a_gene symbol="SETX" name="senataxin"/> http://ghr.nlm.nih.gov/gene/SETX <a_gene symbol="SFTPB" name="surfactant protein B"/> http://ghr.nlm.nih.gov/gene/SFTPB <a_gene symbol="SFTPC" name="surfactant protein C"/> http://ghr.nlm.nih.gov/gene/SFTPC <a_gene symbol="SGCA" name="sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)"/> http://ghr.nlm.nih.gov/gene/SGCA <a_gene symbol="SGCB" name="sarcoglycan, beta (43kDa dystrophin-associated glycoprotein)"/> http://ghr.nlm.nih.gov/gene/SGCB <a_gene symbol="SGCD" name="sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)"/> http://ghr.nlm.nih.gov/gene/SGCD <a_gene symbol="SGCE" name="sarcoglycan, epsilon"/> http://ghr.nlm.nih.gov/gene/SGCE <a_gene symbol="SGCG" name="sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)"/> http://ghr.nlm.nih.gov/gene/SGCG <a_gene symbol="SGSH" name="N-sulfoglucosamine sulfohydrolase"/> http://ghr.nlm.nih.gov/gene/SGSH <a_gene symbol="SH2D1A" name="SH2 domain containing 1A"/> http://ghr.nlm.nih.gov/gene/SH2D1A <a_gene symbol="SH3BP2" name="SH3-domain binding protein 2"/> http://ghr.nlm.nih.gov/gene/SH3BP2 <a_gene symbol="SH3TC2" name="SH3 domain and tetratricopeptide repeats 2"/> http://ghr.nlm.nih.gov/gene/SH3TC2 <a_gene symbol="SHANK3" name="SH3 and multiple ankyrin repeat domains 3"/> http://ghr.nlm.nih.gov/gene/SHANK3 <a_gene symbol="SHH" name="sonic hedgehog"/> http://ghr.nlm.nih.gov/gene/SHH <a_gene symbol="SHOX" name="short stature homeobox"/> http://ghr.nlm.nih.gov/gene/SHOX <a_gene symbol="SI" name="sucrase-isomaltase (alpha-glucosidase)"/> http://ghr.nlm.nih.gov/gene/SI <a_gene symbol="SIL1" name="SIL1 homolog, endoplasmic reticulum chaperone (S. cerevisiae)"/> http://ghr.nlm.nih.gov/gene/SIL1 <a_gene symbol="SIX1" name="SIX homeobox 1"/> http://ghr.nlm.nih.gov/gene/SIX1 <a_gene symbol="SIX3" name="SIX homeobox 3"/> http://ghr.nlm.nih.gov/gene/SIX3 <a_gene symbol="SIX5" name="SIX homeobox 5"/> http://ghr.nlm.nih.gov/gene/SIX5 <a_gene symbol="SKI" name="v-ski sarcoma viral oncogene homolog (avian)"/> http://ghr.nlm.nih.gov/gene/SKI <a_gene symbol="SLC1A3" name="solute carrier family 1 (glial high affinity glutamate transporter), member 3"/> http://ghr.nlm.nih.gov/gene/SLC1A3 <a_gene symbol="SLC2A1" name="solute carrier family 2 (facilitated glucose transporter), member 1"/> http://ghr.nlm.nih.gov/gene/SLC2A1 <a_gene symbol="SLC2A10" name="solute carrier family 2 (facilitated glucose transporter), member 10"/> http://ghr.nlm.nih.gov/gene/SLC2A10 <a_gene symbol="SLC3A1" name="solute carrier family 3 (cystine, dibasic and neutral amino acid transporters, activator of cystine, dibasic and neutral amino acid transport), member 1"/> http://ghr.nlm.nih.gov/gene/SLC3A1 <a_gene symbol="SLC5A1" name="solute carrier family 5 (sodium/glucose cotransporter), member 1"/> http://ghr.nlm.nih.gov/gene/SLC5A1 <a_gene symbol="SLC5A5" name="solute carrier family 5 (sodium iodide symporter), member 5"/> http://ghr.nlm.nih.gov/gene/SLC5A5 <a_gene symbol="SLC6A8" name="solute carrier family 6 (neurotransmitter transporter, creatine), member 8"/> http://ghr.nlm.nih.gov/gene/SLC6A8 <a_gene symbol="SLC7A7" name="solute carrier family 7 (amino acid transporter light chain, y+L system), member 7"/> http://ghr.nlm.nih.gov/gene/SLC7A7 <a_gene symbol="SLC7A9" name="solute carrier family 7 (glycoprotein-associated amino acid transporter light chain, bo,+ system), member 9"/> http://ghr.nlm.nih.gov/gene/SLC7A9 <a_gene symbol="SLC9A6" name="solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6"/> http://ghr.nlm.nih.gov/gene/SLC9A6 <a_gene symbol="SLC12A1" name="solute carrier family 12 (sodium/potassium/chloride transporters), member 1"/> http://ghr.nlm.nih.gov/gene/SLC12A1 <a_gene symbol="SLC12A3" name="solute carrier family 12 (sodium/chloride transporters), member 3"/> http://ghr.nlm.nih.gov/gene/SLC12A3 <a_gene symbol="SLC12A6" name="solute carrier family 12 (potassium/chloride transporters), member 6"/> http://ghr.nlm.nih.gov/gene/SLC12A6 <a_gene symbol="SLC16A2" name="solute carrier family 16, member 2 (thyroid hormone transporter)"/> http://ghr.nlm.nih.gov/gene/SLC16A2 <a_gene symbol="SLC17A5" name="solute carrier family 17 (anion/sugar transporter), member 5"/> http://ghr.nlm.nih.gov/gene/SLC17A5 <a_gene symbol="SLC19A2" name="solute carrier family 19 (thiamine transporter), member 2"/> http://ghr.nlm.nih.gov/gene/SLC19A2 <a_gene symbol="SLC20A2" name="solute carrier family 20 (phosphate transporter), member 2"/> http://ghr.nlm.nih.gov/gene/SLC20A2 <a_gene symbol="SLC22A5" name="solute carrier family 22 (organic cation/carnitine transporter), member 5"/> http://ghr.nlm.nih.gov/gene/SLC22A5 <a_gene symbol="SLC25A4" name="solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4"/> http://ghr.nlm.nih.gov/gene/SLC25A4 <a_gene symbol="SLC25A13" name="solute carrier family 25 (aspartate/glutamate carrier), member 13"/> http://ghr.nlm.nih.gov/gene/SLC25A13 <a_gene symbol="SLC25A15" name="solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15"/> http://ghr.nlm.nih.gov/gene/SLC25A15 <a_gene symbol="SLC25A19" name="solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19"/> http://ghr.nlm.nih.gov/gene/SLC25A19 <a_gene symbol="SLC25A20" name="solute carrier family 25 (carnitine/acylcarnitine translocase), member 20"/> http://ghr.nlm.nih.gov/gene/SLC25A20 <a_gene symbol="SLC26A2" name="solute carrier family 26 (sulfate transporter), member 2"/> http://ghr.nlm.nih.gov/gene/SLC26A2 <a_gene symbol="SLC26A4" name="solute carrier family 26, member 4"/> http://ghr.nlm.nih.gov/gene/SLC26A4 <a_gene symbol="SLC30A10" name="solute carrier family 30, member 10"/> http://ghr.nlm.nih.gov/gene/SLC30A10 <a_gene symbol="SLC37A4" name="solute carrier family 37 (glucose-6-phosphate transporter), member 4"/> http://ghr.nlm.nih.gov/gene/SLC37A4 <a_gene symbol="SLC40A1" name="solute carrier family 40 (iron-regulated transporter), member 1"/> http://ghr.nlm.nih.gov/gene/SLC40A1 <a_gene symbol="SLC45A2" name="solute carrier family 45, member 2"/> http://ghr.nlm.nih.gov/gene/SLC45A2 <a_gene symbol="SLC46A1" name="solute carrier family 46 (folate transporter), member 1"/> http://ghr.nlm.nih.gov/gene/SLC46A1 <a_gene symbol="SLC52A3" name="solute carrier family 52, riboflavin transporter, member 3"/> http://ghr.nlm.nih.gov/gene/SLC52A3 <a_gene symbol="SLCO1B1" name="solute carrier organic anion transporter family, member 1B1"/> http://ghr.nlm.nih.gov/gene/SLCO1B1 <a_gene symbol="SLCO1B3" name="solute carrier organic anion transporter family, member 1B3"/> http://ghr.nlm.nih.gov/gene/SLCO1B3 <a_gene symbol="SLITRK1" name="SLIT and NTRK-like family, member 1"/> http://ghr.nlm.nih.gov/gene/SLITRK1 <a_gene symbol="SMAD3" name="SMAD family member 3"/> http://ghr.nlm.nih.gov/gene/SMAD3 <a_gene symbol="SMAD4" name="SMAD family member 4"/> http://ghr.nlm.nih.gov/gene/SMAD4 <a_gene symbol="SMARCA4" name="SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"/> http://ghr.nlm.nih.gov/gene/SMARCA4 <a_gene symbol="SMARCAL1" name="SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1"/> http://ghr.nlm.nih.gov/gene/SMARCAL1 <a_gene symbol="SMARCB1" name="SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1"/> http://ghr.nlm.nih.gov/gene/SMARCB1 <a_gene symbol="SMARCE1" name="SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1"/> http://ghr.nlm.nih.gov/gene/SMARCE1 <a_gene symbol="SMC1A" name="structural maintenance of chromosomes 1A"/> http://ghr.nlm.nih.gov/gene/SMC1A <a_gene symbol="SMC3" name="structural maintenance of chromosomes 3"/> http://ghr.nlm.nih.gov/gene/SMC3 <a_gene symbol="SMN1" name="survival of motor neuron 1, telomeric"/> http://ghr.nlm.nih.gov/gene/SMN1 <a_gene symbol="SMN2" name="survival of motor neuron 2, centromeric"/> http://ghr.nlm.nih.gov/gene/SMN2 <a_gene symbol="SMPD1" name="sphingomyelin phosphodiesterase 1, acid lysosomal"/> http://ghr.nlm.nih.gov/gene/SMPD1 <a_gene symbol="SNAI2" name="snail homolog 2 (Drosophila)"/> http://ghr.nlm.nih.gov/gene/SNAI2 <a_gene symbol="SNCA" name="synuclein, alpha (non A4 component of amyloid precursor)"/> http://ghr.nlm.nih.gov/gene/SNCA <a_gene symbol="SNCAIP" name="synuclein, alpha interacting protein"/> http://ghr.nlm.nih.gov/gene/SNCAIP <a_gene symbol="SOD1" name="superoxide dismutase 1, soluble"/> http://ghr.nlm.nih.gov/gene/SOD1 <a_gene symbol="SOS1" name="son of sevenless homolog 1 (Drosophila)"/> http://ghr.nlm.nih.gov/gene/SOS1 <a_gene symbol="SOST" name="sclerostin"/> http://ghr.nlm.nih.gov/gene/SOST <a_gene symbol="SOX2" name="SRY (sex determining region Y)-box 2"/> http://ghr.nlm.nih.gov/gene/SOX2 <a_gene symbol="SOX9" name="SRY (sex determining region Y)-box 9"/> http://ghr.nlm.nih.gov/gene/SOX9 <a_gene symbol="SOX10" name="SRY (sex determining region Y)-box 10"/> http://ghr.nlm.nih.gov/gene/SOX10 <a_gene symbol="SP110" name="SP110 nuclear body protein"/> http://ghr.nlm.nih.gov/gene/SP110 <a_gene symbol="SPAST" name="spastin"/> http://ghr.nlm.nih.gov/gene/SPAST <a_gene symbol="SPG7" name="spastic paraplegia 7 (pure and complicated autosomal recessive)"/> http://ghr.nlm.nih.gov/gene/SPG7 <a_gene symbol="SPG11" name="spastic paraplegia 11 (autosomal recessive)"/> http://ghr.nlm.nih.gov/gene/SPG11 <a_gene symbol="SPG20" name="spastic paraplegia 20 (Troyer syndrome)"/> http://ghr.nlm.nih.gov/gene/SPG20 <a_gene symbol="SPR" name="sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase)"/> http://ghr.nlm.nih.gov/gene/SPR <a_gene symbol="SPRED1" name="sprouty-related, EVH1 domain containing 1"/> http://ghr.nlm.nih.gov/gene/SPRED1 <a_gene symbol="SPTLC1" name="serine palmitoyltransferase, long chain base subunit 1"/> http://ghr.nlm.nih.gov/gene/SPTLC1 <a_gene symbol="SQSTM1" name="sequestosome 1"/> http://ghr.nlm.nih.gov/gene/SQSTM1 <a_gene symbol="SRCAP" name="Snf2-related CREBBP activator protein"/> http://ghr.nlm.nih.gov/gene/SRCAP <a_gene symbol="SRD5A2" name="steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)"/> http://ghr.nlm.nih.gov/gene/SRD5A2 <a_gene symbol="SRY" name="sex determining region Y"/> http://ghr.nlm.nih.gov/gene/SRY <a_gene symbol="STAT3" name="signal transducer and activator of transcription 3 (acute-phase response factor)"/> http://ghr.nlm.nih.gov/gene/STAT3 <a_gene symbol="STAT4" name="signal transducer and activator of transcription 4"/> http://ghr.nlm.nih.gov/gene/STAT4 <a_gene symbol="STK11" name="serine/threonine kinase 11"/> http://ghr.nlm.nih.gov/gene/STK11 <a_gene symbol="STRC" name="stereocilin"/> http://ghr.nlm.nih.gov/gene/STRC <a_gene symbol="SUCLA2" name="succinate-CoA ligase, ADP-forming, beta subunit"/> http://ghr.nlm.nih.gov/gene/SUCLA2 <a_gene symbol="SUCLG1" name="succinate-CoA ligase, alpha subunit"/> http://ghr.nlm.nih.gov/gene/SUCLG1 <a_gene symbol="SURF1" name="surfeit 1"/> http://ghr.nlm.nih.gov/gene/SURF1 <a_gene symbol="SYNE1" name="spectrin repeat containing, nuclear envelope 1"/> http://ghr.nlm.nih.gov/gene/SYNE1 <a_gene symbol="T" name="T, brachyury homolog (mouse)"/> http://ghr.nlm.nih.gov/gene/T <a_gene symbol="TAF1" name="TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa"/> http://ghr.nlm.nih.gov/gene/TAF1 <a_gene symbol="TARDBP" name="TAR DNA binding protein"/> http://ghr.nlm.nih.gov/gene/TARDBP <a_gene symbol="TAT" name="tyrosine aminotransferase"/> http://ghr.nlm.nih.gov/gene/TAT <a_gene symbol="TAZ" name="tafazzin"/> http://ghr.nlm.nih.gov/gene/TAZ <a_gene symbol="TBP" name="TATA box binding protein"/> http://ghr.nlm.nih.gov/gene/TBP <a_gene symbol="TBX1" name="T-box 1"/> http://ghr.nlm.nih.gov/gene/TBX1 <a_gene symbol="TBX5" name="T-box 5"/> http://ghr.nlm.nih.gov/gene/TBX5 <a_gene symbol="TCF4" name="transcription factor 4"/> http://ghr.nlm.nih.gov/gene/TCF4 <a_gene symbol="TCIRG1" name="T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3"/> http://ghr.nlm.nih.gov/gene/TCIRG1 <a_gene symbol="TCOF1" name="Treacher Collins-Franceschetti syndrome 1"/> http://ghr.nlm.nih.gov/gene/TCOF1 <a_gene symbol="TECTA" name="tectorin alpha"/> http://ghr.nlm.nih.gov/gene/TECTA <a_gene symbol="TEK" name="TEK tyrosine kinase, endothelial"/> http://ghr.nlm.nih.gov/gene/TEK <a_gene symbol="TERC" name="telomerase RNA component"/> http://ghr.nlm.nih.gov/gene/TERC <a_gene symbol="TERT" name="telomerase reverse transcriptase"/> http://ghr.nlm.nih.gov/gene/TERT <a_gene symbol="TET2" name="tet methylcytosine dioxygenase 2"/> http://ghr.nlm.nih.gov/gene/TET2 <a_gene symbol="TFAP2A" name="transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)"/> http://ghr.nlm.nih.gov/gene/TFAP2A <a_gene symbol="TFAP2B" name="transcription factor AP-2 beta (activating enhancer binding protein 2 beta)"/> http://ghr.nlm.nih.gov/gene/TFAP2B <a_gene symbol="TFR2" name="transferrin receptor 2"/> http://ghr.nlm.nih.gov/gene/TFR2 <a_gene symbol="TG" name="thyroglobulin"/> http://ghr.nlm.nih.gov/gene/TG <a_gene symbol="TGFB1" name="transforming growth factor, beta 1"/> http://ghr.nlm.nih.gov/gene/TGFB1 <a_gene symbol="TGFBI" name="transforming growth factor, beta-induced, 68kDa"/> http://ghr.nlm.nih.gov/gene/TGFBI <a_gene symbol="TGFBR1" name="transforming growth factor, beta receptor 1"/> http://ghr.nlm.nih.gov/gene/TGFBR1 <a_gene symbol="TGFBR2" name="transforming growth factor, beta receptor II (70/80kDa)"/> http://ghr.nlm.nih.gov/gene/TGFBR2 <a_gene symbol="TGIF1" name="TGFB-induced factor homeobox 1"/> http://ghr.nlm.nih.gov/gene/TGIF1 <a_gene symbol="TGM1" name="transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase)"/> http://ghr.nlm.nih.gov/gene/TGM1 <a_gene symbol="TH" name="tyrosine hydroxylase"/> http://ghr.nlm.nih.gov/gene/TH <a_gene symbol="THPO" name="thrombopoietin"/> http://ghr.nlm.nih.gov/gene/THPO <a_gene symbol="TIMM8A" name="translocase of inner mitochondrial membrane 8 homolog A (yeast)"/> http://ghr.nlm.nih.gov/gene/TIMM8A <a_gene symbol="TINF2" name="TERF1 (TRF1)-interacting nuclear factor 2"/> http://ghr.nlm.nih.gov/gene/TINF2 <a_gene symbol="TMC1" name="transmembrane channel-like 1"/> http://ghr.nlm.nih.gov/gene/TMC1 <a_gene symbol="TMEM127" name="transmembrane protein 127"/> http://ghr.nlm.nih.gov/gene/TMEM127 <a_gene symbol="TMIE" name="transmembrane inner ear"/> http://ghr.nlm.nih.gov/gene/TMIE <a_gene symbol="TMPRSS3" name="transmembrane protease, serine 3"/> http://ghr.nlm.nih.gov/gene/TMPRSS3 <a_gene symbol="TNFRSF1A" name="tumor necrosis factor receptor superfamily, member 1A"/> http://ghr.nlm.nih.gov/gene/TNFRSF1A <a_gene symbol="TNFRSF11A" name="tumor necrosis factor receptor superfamily, member 11a, NFKB activator"/> http://ghr.nlm.nih.gov/gene/TNFRSF11A <a_gene symbol="TNFRSF11B" name="tumor necrosis factor receptor superfamily, member 11b"/> http://ghr.nlm.nih.gov/gene/TNFRSF11B <a_gene symbol="TNFRSF13B" name="tumor necrosis factor receptor superfamily, member 13B"/> http://ghr.nlm.nih.gov/gene/TNFRSF13B <a_gene symbol="TNNI3" name="troponin I type 3 (cardiac)"/> http://ghr.nlm.nih.gov/gene/TNNI3 <a_gene symbol="TNNT2" name="troponin T type 2 (cardiac)"/> http://ghr.nlm.nih.gov/gene/TNNT2 <a_gene symbol="TNXB" name="tenascin XB"/> http://ghr.nlm.nih.gov/gene/TNXB <a_gene symbol="TOR1A" name="torsin family 1, member A (torsin A)"/> http://ghr.nlm.nih.gov/gene/TOR1A <a_gene symbol="TP53" name="tumor protein p53"/> http://ghr.nlm.nih.gov/gene/TP53 <a_gene symbol="TP63" name="tumor protein p63"/> http://ghr.nlm.nih.gov/gene/TP63 <a_gene symbol="TPM2" name="tropomyosin 2 (beta)"/> http://ghr.nlm.nih.gov/gene/TPM2 <a_gene symbol="TPM3" name="tropomyosin 3"/> http://ghr.nlm.nih.gov/gene/TPM3 <a_gene symbol="TPO" name="thyroid peroxidase"/> http://ghr.nlm.nih.gov/gene/TPO <a_gene symbol="TRAPPC2" name="trafficking protein particle complex 2"/> http://ghr.nlm.nih.gov/gene/TRAPPC2 <a_gene symbol="TREM2" name="triggering receptor expressed on myeloid cells 2"/> http://ghr.nlm.nih.gov/gene/TREM2 <a_gene symbol="TREX1" name="three prime repair exonuclease 1"/> http://ghr.nlm.nih.gov/gene/TREX1 <a_gene symbol="TRIOBP" name="TRIO and F-actin binding protein"/> http://ghr.nlm.nih.gov/gene/TRIOBP <a_gene symbol="TRPS1" name="trichorhinophalangeal syndrome I"/> http://ghr.nlm.nih.gov/gene/TRPS1 <a_gene symbol="TRPV4" name="transient receptor potential cation channel, subfamily V, member 4"/> http://ghr.nlm.nih.gov/gene/TRPV4 <a_gene symbol="TSC1" name="tuberous sclerosis 1"/> http://ghr.nlm.nih.gov/gene/TSC1 <a_gene symbol="TSC2" name="tuberous sclerosis 2"/> http://ghr.nlm.nih.gov/gene/TSC2 <a_gene symbol="TSEN2" name="tRNA splicing endonuclease 2 homolog (S. cerevisiae)"/> http://ghr.nlm.nih.gov/gene/TSEN2 <a_gene symbol="TSEN34" name="tRNA splicing endonuclease 34 homolog (S. cerevisiae)"/> http://ghr.nlm.nih.gov/gene/TSEN34 <a_gene symbol="TSEN54" name="tRNA splicing endonuclease 54 homolog (S. cerevisiae)"/> http://ghr.nlm.nih.gov/gene/TSEN54 <a_gene symbol="TSHB" name="thyroid stimulating hormone, beta"/> http://ghr.nlm.nih.gov/gene/TSHB <a_gene symbol="TSHR" name="thyroid stimulating hormone receptor"/> http://ghr.nlm.nih.gov/gene/TSHR <a_gene symbol="TTN" name="titin"/> http://ghr.nlm.nih.gov/gene/TTN <a_gene symbol="TTPA" name="tocopherol (alpha) transfer protein"/> http://ghr.nlm.nih.gov/gene/TTPA <a_gene symbol="TTR" name="transthyretin"/> http://ghr.nlm.nih.gov/gene/TTR <a_gene symbol="TWIST1" name="twist basic helix-loop-helix transcription factor 1"/> http://ghr.nlm.nih.gov/gene/TWIST1 <a_gene symbol="TYMP" name="thymidine phosphorylase"/> http://ghr.nlm.nih.gov/gene/TYMP <a_gene symbol="TYR" name="tyrosinase"/> http://ghr.nlm.nih.gov/gene/TYR <a_gene symbol="TYROBP" name="TYRO protein tyrosine kinase binding protein"/> http://ghr.nlm.nih.gov/gene/TYROBP <a_gene symbol="TYRP1" name="tyrosinase-related protein 1"/> http://ghr.nlm.nih.gov/gene/TYRP1 <a_gene symbol="UBA1" name="ubiquitin-like modifier activating enzyme 1"/> http://ghr.nlm.nih.gov/gene/UBA1 <a_gene symbol="UBE3A" name="ubiquitin protein ligase E3A"/> http://ghr.nlm.nih.gov/gene/UBE3A <a_gene symbol="UCHL1" name="ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)"/> http://ghr.nlm.nih.gov/gene/UCHL1 <a_gene symbol="UGT1A1" name="UDP glucuronosyltransferase 1 family, polypeptide A1"/> http://ghr.nlm.nih.gov/gene/UGT1A1 <a_gene symbol="UMOD" name="uromodulin"/> http://ghr.nlm.nih.gov/gene/UMOD <a_gene symbol="UNC13D" name="unc-13 homolog D (C. elegans)"/> http://ghr.nlm.nih.gov/gene/UNC13D <a_gene symbol="UROD" name="uroporphyrinogen decarboxylase"/> http://ghr.nlm.nih.gov/gene/UROD <a_gene symbol="UROS" name="uroporphyrinogen III synthase"/> http://ghr.nlm.nih.gov/gene/UROS <a_gene symbol="USH1C" name="Usher syndrome 1C (autosomal recessive, severe)"/> http://ghr.nlm.nih.gov/gene/USH1C <a_gene symbol="USH1G" name="Usher syndrome 1G (autosomal recessive)"/> http://ghr.nlm.nih.gov/gene/USH1G <a_gene symbol="USH2A" name="Usher syndrome 2A (autosomal recessive, mild)"/> http://ghr.nlm.nih.gov/gene/USH2A <a_gene symbol="USP9Y" name="ubiquitin specific peptidase 9, Y-linked"/> http://ghr.nlm.nih.gov/gene/USP9Y <a_gene symbol="UVSSA" name="UV-stimulated scaffold protein A"/> http://ghr.nlm.nih.gov/gene/UVSSA <a_gene symbol="VAPB" name="VAMP (vesicle-associated membrane protein)-associated protein B and C"/> http://ghr.nlm.nih.gov/gene/VAPB <a_gene symbol="VCAN" name="versican"/> http://ghr.nlm.nih.gov/gene/VCAN <a_gene symbol="VCP" name="valosin containing protein"/> http://ghr.nlm.nih.gov/gene/VCP <a_gene symbol="VHL" name="von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase"/> http://ghr.nlm.nih.gov/gene/VHL <a_gene symbol="VLDLR" name="very low density lipoprotein receptor"/> http://ghr.nlm.nih.gov/gene/VLDLR <a_gene symbol="VPS13A" name="vacuolar protein sorting 13 homolog A (S. cerevisiae)"/> http://ghr.nlm.nih.gov/gene/VPS13A <a_gene symbol="VPS13B" name="vacuolar protein sorting 13 homolog B (yeast)"/> http://ghr.nlm.nih.gov/gene/VPS13B <a_gene symbol="VRK1" name="vaccinia related kinase 1"/> http://ghr.nlm.nih.gov/gene/VRK1 <a_gene symbol="VWF" name="von Willebrand factor"/> http://ghr.nlm.nih.gov/gene/VWF <a_gene symbol="WAS" name="Wiskott-Aldrich syndrome"/> http://ghr.nlm.nih.gov/gene/WAS <a_gene symbol="WFS1" name="Wolfram syndrome 1 (wolframin)"/> http://ghr.nlm.nih.gov/gene/WFS1 <a_gene symbol="WHSC1" name="Wolf-Hirschhorn syndrome candidate 1"/> http://ghr.nlm.nih.gov/gene/WHSC1 <a_gene symbol="WISP3" name="WNT1 inducible signaling pathway protein 3"/> http://ghr.nlm.nih.gov/gene/WISP3 <a_gene symbol="WNK1" name="WNK lysine deficient protein kinase 1"/> http://ghr.nlm.nih.gov/gene/WNK1 <a_gene symbol="WNK4" name="WNK lysine deficient protein kinase 4"/> http://ghr.nlm.nih.gov/gene/WNK4 <a_gene symbol="WNT3" name="wingless-type MMTV integration site family, member 3"/> http://ghr.nlm.nih.gov/gene/WNT3 <a_gene symbol="WNT4" name="wingless-type MMTV integration site family, member 4"/> http://ghr.nlm.nih.gov/gene/WNT4 <a_gene symbol="WRN" name="Werner syndrome, RecQ helicase-like"/> http://ghr.nlm.nih.gov/gene/WRN <a_gene symbol="WT1" name="Wilms tumor 1"/> http://ghr.nlm.nih.gov/gene/WT1 <a_gene symbol="XIAP" name="X-linked inhibitor of apoptosis"/> http://ghr.nlm.nih.gov/gene/XIAP <a_gene symbol="XK" name="X-linked Kx blood group (McLeod syndrome)"/> http://ghr.nlm.nih.gov/gene/XK <a_gene symbol="XPA" name="xeroderma pigmentosum, complementation group A"/> http://ghr.nlm.nih.gov/gene/XPA <a_gene symbol="XPC" name="xeroderma pigmentosum, complementation group C"/> http://ghr.nlm.nih.gov/gene/XPC <a_gene symbol="YARS" name="tyrosyl-tRNA synthetase"/> http://ghr.nlm.nih.gov/gene/YARS <a_gene symbol="YWHAE" name="tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide"/> http://ghr.nlm.nih.gov/gene/YWHAE <a_gene symbol="ZAP70" name="zeta-chain (TCR) associated protein kinase 70kDa"/> http://ghr.nlm.nih.gov/gene/ZAP70 <a_gene symbol="ZEB2" name="zinc finger E-box binding homeobox 2"/> http://ghr.nlm.nih.gov/gene/ZEB2 <a_gene symbol="ZFP57" name="ZFP57 zinc finger protein"/> http://ghr.nlm.nih.gov/gene/ZFP57 <a_gene symbol="ZIC2" name="Zic family member 2"/> http://ghr.nlm.nih.gov/gene/ZIC2 Chromosomes http://ghr.nlm.nih.gov/chromosomes Chromosome 1 http://ghr.nlm.nih.gov/chromosome/1 Chromosome 10 http://ghr.nlm.nih.gov/chromosome/10 Chromosome 11 http://ghr.nlm.nih.gov/chromosome/11 Chromosome 12 http://ghr.nlm.nih.gov/chromosome/12 Chromosome 13 http://ghr.nlm.nih.gov/chromosome/13 Chromosome 14 http://ghr.nlm.nih.gov/chromosome/14 Chromosome 15 http://ghr.nlm.nih.gov/chromosome/15 Chromosome 16 http://ghr.nlm.nih.gov/chromosome/16 Chromosome 17 http://ghr.nlm.nih.gov/chromosome/17 Chromosome 18 http://ghr.nlm.nih.gov/chromosome/18 Chromosome 19 http://ghr.nlm.nih.gov/chromosome/19 Chromosome 2 http://ghr.nlm.nih.gov/chromosome/2 Chromosome 20 http://ghr.nlm.nih.gov/chromosome/20 Chromosome 21 http://ghr.nlm.nih.gov/chromosome/21 Chromosome 22 http://ghr.nlm.nih.gov/chromosome/22 Chromosome 3 http://ghr.nlm.nih.gov/chromosome/3 Chromosome 4 http://ghr.nlm.nih.gov/chromosome/4 Chromosome 5 http://ghr.nlm.nih.gov/chromosome/5 Chromosome 6 http://ghr.nlm.nih.gov/chromosome/6 Chromosome 7 http://ghr.nlm.nih.gov/chromosome/7 Chromosome 8 http://ghr.nlm.nih.gov/chromosome/8 Chromosome 9 http://ghr.nlm.nih.gov/chromosome/9 Mitochondrial DNA http://ghr.nlm.nih.gov/chromosome/MT X chromosome http://ghr.nlm.nih.gov/chromosome/X Y chromosome http://ghr.nlm.nih.gov/chromosome/Y Handbook http://ghr.nlm.nih.gov/handbook Cells and DNA http://ghr.nlm.nih.gov/handbook/basics What is a cell? http://ghr.nlm.nih.gov/handbook/basics/cell What is DNA? http://ghr.nlm.nih.gov/handbook/basics/dna What is mitochondrial DNA? http://ghr.nlm.nih.gov/handbook/basics/mtdna What is a gene? http://ghr.nlm.nih.gov/handbook/basics/gene What is a chromosome? http://ghr.nlm.nih.gov/handbook/basics/chromosome How many chromosomes do people have? http://ghr.nlm.nih.gov/handbook/basics/howmanychromosomes How Genes Work http://ghr.nlm.nih.gov/handbook/howgeneswork What are proteins and what do they do? http://ghr.nlm.nih.gov/handbook/howgeneswork/protein How do genes direct the production of proteins? http://ghr.nlm.nih.gov/handbook/howgeneswork/makingprotein Can genes be turned on and off in cells? http://ghr.nlm.nih.gov/handbook/howgeneswork/geneonoff What is the epigenome? http://ghr.nlm.nih.gov/handbook/howgeneswork/epigenome How do cells divide? http://ghr.nlm.nih.gov/handbook/howgeneswork/cellsdivide How do genes control the growth and division of cells? http://ghr.nlm.nih.gov/handbook/howgeneswork/genesanddivision How do geneticists indicate the location of a gene? http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation What are gene families? http://ghr.nlm.nih.gov/handbook/howgeneswork/genefamilies Mutations and Health http://ghr.nlm.nih.gov/handbook/mutationsanddisorders What is a gene mutation and how do mutations occur? http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/genemutation How can gene mutations affect health and development? http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/mutationscausedisease Do all gene mutations affect health and development? http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/neutralmutations What kinds of gene mutations are possible? http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/possiblemutations Can a change in the number of genes affect health and development? http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/copynumbervariation Can changes in the number of chromosomes affect health and development? http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/chromosomalconditions Can changes in the structure of chromosomes affect health and development? http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/structuralchanges Can changes in mitochondrial DNA affect health and development? http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/mitochondrialconditions What are complex or multifactorial disorders? http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/complexdisorders What information about a genetic condition can statistics provide? http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/statistics How are genetic conditions and genes named? http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming Inheriting Genetic Conditions http://ghr.nlm.nih.gov/handbook/inheritance What does it mean if a disorder seems to run in my family? http://ghr.nlm.nih.gov/handbook/inheritance/runsinfamily Why is it important to know my family medical history? http://ghr.nlm.nih.gov/handbook/inheritance/familyhistory What are the different ways in which a genetic condition can be inherited? http://ghr.nlm.nih.gov/handbook/inheritance/inheritancepatterns If a genetic disorder runs in my family, what are the chances that my children will have the condition? http://ghr.nlm.nih.gov/handbook/inheritance/riskassessment What are reduced penetrance and variable expressivity? http://ghr.nlm.nih.gov/handbook/inheritance/penetranceexpressivity What do geneticists mean by anticipation? http://ghr.nlm.nih.gov/handbook/inheritance/anticipation What are genomic imprinting and uniparental disomy? http://ghr.nlm.nih.gov/handbook/inheritance/updimprinting Are chromosomal disorders inherited? http://ghr.nlm.nih.gov/handbook/inheritance/chromosomalinheritance Why are some genetic conditions more common in particular ethnic groups? http://ghr.nlm.nih.gov/handbook/inheritance/ethnicgroup Genetic Consultation http://ghr.nlm.nih.gov/handbook/consult What is a genetic consultation? http://ghr.nlm.nih.gov/handbook/consult/consultation Why might someone have a genetic consultation? http://ghr.nlm.nih.gov/handbook/consult/reasons What happens during a genetic consultation? http://ghr.nlm.nih.gov/handbook/consult/expectations How can I find a genetics professional in my area? http://ghr.nlm.nih.gov/handbook/consult/findingprofessional What is the prognosis of a genetic condition? http://ghr.nlm.nih.gov/handbook/consult/prognosis How are genetic conditions diagnosed? http://ghr.nlm.nih.gov/handbook/consult/diagnosis How are genetic conditions treated or managed? http://ghr.nlm.nih.gov/handbook/consult/treatment Genetic Testing http://ghr.nlm.nih.gov/handbook/testing What is genetic testing? http://ghr.nlm.nih.gov/handbook/testing/genetictesting What are the types of genetic tests? http://ghr.nlm.nih.gov/handbook/testing/uses How is genetic testing done? http://ghr.nlm.nih.gov/handbook/testing/procedure What is direct-to-consumer genetic testing? http://ghr.nlm.nih.gov/handbook/testing/directtoconsumer How can consumers be sure a genetic test is valid and useful? http://ghr.nlm.nih.gov/handbook/testing/validtest What do the results of genetic tests mean? http://ghr.nlm.nih.gov/handbook/testing/interpretingresults What is the cost of genetic testing, and how long does it take to get the results? http://ghr.nlm.nih.gov/handbook/testing/costresults Will health insurance cover the costs of genetic testing? http://ghr.nlm.nih.gov/handbook/testing/insurancecoverage What are the benefits of genetic testing? http://ghr.nlm.nih.gov/handbook/testing/benefits What are the risks and limitations of genetic testing? http://ghr.nlm.nih.gov/handbook/testing/riskslimitations What is genetic discrimination? http://ghr.nlm.nih.gov/handbook/testing/discrimination How does genetic testing in a research setting differ from clinical genetic testing? http://ghr.nlm.nih.gov/handbook/testing/researchtesting What is genetic ancestry testing? http://ghr.nlm.nih.gov/handbook/testing/ancestrytesting Gene Therapy http://ghr.nlm.nih.gov/handbook/therapy What is gene therapy? http://ghr.nlm.nih.gov/handbook/therapy/genetherapy How does gene therapy work? http://ghr.nlm.nih.gov/handbook/therapy/procedures Is gene therapy safe? http://ghr.nlm.nih.gov/handbook/therapy/safety What are the ethical issues surrounding gene therapy? http://ghr.nlm.nih.gov/handbook/therapy/ethics Is gene therapy available to treat my disorder? http://ghr.nlm.nih.gov/handbook/therapy/availability The Human Genome Project http://ghr.nlm.nih.gov/handbook/hgp What is a genome? http://ghr.nlm.nih.gov/handbook/hgp/genome What was the Human Genome Project and why has it been important? http://ghr.nlm.nih.gov/handbook/hgp/description What were the goals of the Human Genome Project? http://ghr.nlm.nih.gov/handbook/hgp/goals What did the Human Genome Project accomplish? http://ghr.nlm.nih.gov/handbook/hgp/accomplishments What were some of the ethical, legal, and social implications addressed by the Human Genome Project? http://ghr.nlm.nih.gov/handbook/hgp/elsi Genomic Research http://ghr.nlm.nih.gov/handbook/genomicresearch What are the next steps in genomic research? http://ghr.nlm.nih.gov/handbook/genomicresearch/nextsteps What are single nucleotide polymorphisms (SNPs)? http://ghr.nlm.nih.gov/handbook/genomicresearch/snp What are genome-wide association studies? http://ghr.nlm.nih.gov/handbook/genomicresearch/gwastudies What is the International HapMap Project? http://ghr.nlm.nih.gov/handbook/genomicresearch/hapmap What is the Encyclopedia of DNA Elements (ENCODE) Project? http://ghr.nlm.nih.gov/handbook/genomicresearch/encode What is pharmacogenomics? http://ghr.nlm.nih.gov/handbook/genomicresearch/pharmacogenomics What advances are being made in DNA sequencing? http://ghr.nlm.nih.gov/handbook/genomicresearch/sequencing Gene Families http://ghr.nlm.nih.gov/geneFamily aaRS http://ghr.nlm.nih.gov/geneFamily/aars ABC http://ghr.nlm.nih.gov/geneFamily/abc ABHD http://ghr.nlm.nih.gov/geneFamily/abhd ACS http://ghr.nlm.nih.gov/geneFamily/acs ADAMTS http://ghr.nlm.nih.gov/geneFamily/adamts ALDH http://ghr.nlm.nih.gov/geneFamily/aldh ALOX http://ghr.nlm.nih.gov/geneFamily/alox ARHGEF http://ghr.nlm.nih.gov/geneFamily/arhgef ATP http://ghr.nlm.nih.gov/geneFamily/atp bHLH http://ghr.nlm.nih.gov/geneFamily/bhlh BIRC http://ghr.nlm.nih.gov/geneFamily/birc blood group http://ghr.nlm.nih.gov/geneFamily/bloodgroup CACN http://ghr.nlm.nih.gov/geneFamily/cacn CATSPER http://ghr.nlm.nih.gov/geneFamily/catsper CD http://ghr.nlm.nih.gov/geneFamily/cd CDH http://ghr.nlm.nih.gov/geneFamily/cdh CDK http://ghr.nlm.nih.gov/geneFamily/cdk CHMP http://ghr.nlm.nih.gov/geneFamily/chmp chromatin-modifying enzymes http://ghr.nlm.nih.gov/geneFamily/chromatinmodifyingenzymes COLEC http://ghr.nlm.nih.gov/geneFamily/colec COLPG http://ghr.nlm.nih.gov/geneFamily/colpg complement http://ghr.nlm.nih.gov/geneFamily/complement CTS http://ghr.nlm.nih.gov/geneFamily/cts CYB http://ghr.nlm.nih.gov/geneFamily/cyb CYP http://ghr.nlm.nih.gov/geneFamily/cyp DN http://ghr.nlm.nih.gov/geneFamily/dn DNAJ http://ghr.nlm.nih.gov/geneFamily/dnaj DYN http://ghr.nlm.nih.gov/geneFamily/dyn FANC http://ghr.nlm.nih.gov/geneFamily/fanc fibronectin type III domain containing http://ghr.nlm.nih.gov/geneFamily/fibronectintypeiiidomaincontaining FOX http://ghr.nlm.nih.gov/geneFamily/fox GJ http://ghr.nlm.nih.gov/geneFamily/gj GPC http://ghr.nlm.nih.gov/geneFamily/gpc GPCR http://ghr.nlm.nih.gov/geneFamily/gpcr GPCRF http://ghr.nlm.nih.gov/geneFamily/gpcrf HLA http://ghr.nlm.nih.gov/geneFamily/hla homeobox http://ghr.nlm.nih.gov/geneFamily/homeobox IFT http://ghr.nlm.nih.gov/geneFamily/ift IL http://ghr.nlm.nih.gov/geneFamily/il KCN http://ghr.nlm.nih.gov/geneFamily/kcn KIF http://ghr.nlm.nih.gov/geneFamily/kif KRT http://ghr.nlm.nih.gov/geneFamily/krt LGIC http://ghr.nlm.nih.gov/geneFamily/lgic mitochondrial respiratory chain complex http://ghr.nlm.nih.gov/geneFamily/mitochondrialrespiratorychaincomplex MYBP http://ghr.nlm.nih.gov/geneFamily/mybp myosin superfamily http://ghr.nlm.nih.gov/geneFamily/myosinsuperfamily NLR http://ghr.nlm.nih.gov/geneFamily/nlr PAR http://ghr.nlm.nih.gov/geneFamily/par PARK http://ghr.nlm.nih.gov/geneFamily/park PAX http://ghr.nlm.nih.gov/geneFamily/pax PDI http://ghr.nlm.nih.gov/geneFamily/pdi PG http://ghr.nlm.nih.gov/geneFamily/pg PRSS http://ghr.nlm.nih.gov/geneFamily/prss PTP http://ghr.nlm.nih.gov/geneFamily/ptp RAB http://ghr.nlm.nih.gov/geneFamily/rab RNASE http://ghr.nlm.nih.gov/geneFamily/rnase RNF http://ghr.nlm.nih.gov/geneFamily/rnf RPL http://ghr.nlm.nih.gov/geneFamily/rpl RPS http://ghr.nlm.nih.gov/geneFamily/rps SCN http://ghr.nlm.nih.gov/geneFamily/scn SDR http://ghr.nlm.nih.gov/geneFamily/sdr serine/threonine phosphatases http://ghr.nlm.nih.gov/geneFamily/serinethreoninephosphatases SERPIN http://ghr.nlm.nih.gov/geneFamily/serpin SKOR http://ghr.nlm.nih.gov/geneFamily/skor SLC http://ghr.nlm.nih.gov/geneFamily/slc SLRR http://ghr.nlm.nih.gov/geneFamily/slrr SMAD http://ghr.nlm.nih.gov/geneFamily/smad SMC http://ghr.nlm.nih.gov/geneFamily/smc SOX http://ghr.nlm.nih.gov/geneFamily/sox SULTM http://ghr.nlm.nih.gov/geneFamily/sultm TBX http://ghr.nlm.nih.gov/geneFamily/tbx TNFRSF http://ghr.nlm.nih.gov/geneFamily/tnfrsf TNFSF http://ghr.nlm.nih.gov/geneFamily/tnfsf TRIM http://ghr.nlm.nih.gov/geneFamily/trim TRNA http://ghr.nlm.nih.gov/geneFamily/trna TRP http://ghr.nlm.nih.gov/geneFamily/trp UBA http://ghr.nlm.nih.gov/geneFamily/uba UGT http://ghr.nlm.nih.gov/geneFamily/ugt USP http://ghr.nlm.nih.gov/geneFamily/usp WNT http://ghr.nlm.nih.gov/geneFamily/wnt ZCCHC http://ghr.nlm.nih.gov/geneFamily/zcchc ZFYVE http://ghr.nlm.nih.gov/geneFamily/zfyve ZMYND http://ghr.nlm.nih.gov/geneFamily/zmynd ZNF http://ghr.nlm.nih.gov/geneFamily/znf