Cellular component biogenesis
- AASS: aminoadipate-semialdehyde synthase
- ABCA1: ATP-binding cassette, sub-family A (ABC1), member 1
- ACTB: actin, beta
- ACTG1: actin, gamma 1
- ACVRL1: activin A receptor type II-like 1
- ALAD: aminolevulinate dehydratase
- ALDH5A1: aldehyde dehydrogenase 5 family, member A1
- ALDOB: aldolase B, fructose-bisphosphate
- ALMS1: Alstrom syndrome 1
- ANG: angiogenin, ribonuclease, RNase A family, 5
- APC: adenomatous polyposis coli
- APOA1: apolipoprotein A-I
- APOB: apolipoprotein B (including Ag(x) antigen)
- APOE: apolipoprotein E
- AR: androgen receptor
- ATG16L1: autophagy related 16-like 1 (S. cerevisiae)
- ATL1: atlastin GTPase 1
- ATP7A: ATPase, Cu++ transporting, alpha polypeptide
- ATXN2: ataxin 2
- BBS1: Bardet-Biedl syndrome 1
- BBS10: Bardet-Biedl syndrome 10
- BDNF: brain-derived neurotrophic factor
- BLM: Bloom syndrome, RecQ helicase-like
- C10orf2: chromosome 10 open reading frame 2
- CAPN3: calpain 3, (p94)
- CASQ2: calsequestrin 2 (cardiac muscle)
- CAV3: caveolin 3
- CDAN1: codanin 1
- CDH1: cadherin 1, type 1, E-cadherin (epithelial)
- CEP290: centrosomal protein 290kDa
- CHEK2: checkpoint kinase 2
- CHRNB2: cholinergic receptor, nicotinic, beta 2 (neuronal)
- CLDN14: claudin 14
- CLRN1: clarin 1
- COL17A1: collagen, type XVII, alpha 1
- COL6A1: collagen, type VI, alpha 1
- COL6A2: collagen, type VI, alpha 2
- CREBBP: CREB binding protein
- CTNNB1: catenin (cadherin-associated protein), beta 1, 88kDa
- CYBA: cytochrome b-245, alpha polypeptide
- DICER1: dicer 1, ribonuclease type III
- DMD: dystrophin
- DYNC1H1: dynein, cytoplasmic 1, heavy chain 1
- FANCA: Fanconi anemia, complementation group A
- FANCC: Fanconi anemia, complementation group C
- FAS: Fas (TNF receptor superfamily, member 6)
- FBLN5: fibulin 5
- FGD1: FYVE, RhoGEF and PH domain containing 1
- FGD4: FYVE, RhoGEF and PH domain containing 4
- FLCN: folliculin
- FLNA: filamin A, alpha
- FOXG1: forkhead box G1
- FXN: frataxin
- GCH1: GTP cyclohydrolase 1
- GJA1: gap junction protein, alpha 1, 43kDa
- GJB1: gap junction protein, beta 1, 32kDa
- GJB2: gap junction protein, beta 2, 26kDa
- GNMT: glycine N-methyltransferase
- GRHPR: glyoxylate reductase/hydroxypyruvate reductase
- GSN: gelsolin
- HAX1: HCLS1 associated protein X-1
- HBA2: hemoglobin, alpha 2
- HBB: hemoglobin, beta
- HFE: hemochromatosis
- HGSNAT: heparan-alpha-glucosaminide N-acetyltransferase
- HMGCL: 3-hydroxymethyl-3-methylglutaryl-CoA lyase
- HPRT1: hypoxanthine phosphoribosyltransferase 1
- HRAS: v-Ha-ras Harvey rat sarcoma viral oncogene homolog
- IGHMBP2: immunoglobulin mu binding protein 2
- IKBKAP: inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
- INS: insulin
- ISCU: iron-sulfur cluster scaffold homolog (E. coli)
- ITGA6: integrin, alpha 6
- ITGB4: integrin, beta 4
- JAK2: Janus kinase 2
- KAT6B: K(lysine) acetyltransferase 6B
- KCNJ2: potassium inwardly-rectifying channel, subfamily J, member 2
- KIT: v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
- KRT14: keratin 14
- KRT5: keratin 5
- LAMA3: laminin, alpha 3
- LAMB3: laminin, beta 3
- LAMC2: laminin, gamma 2
- LIMK1: LIM domain kinase 1
- MAPT: microtubule-associated protein tau
- MITF: microphthalmia-associated transcription factor
- MKKS: McKusick-Kaufman syndrome
- MLC1: megalencephalic leukoencephalopathy with subcortical cysts 1
- NEFL: neurofilament, light polypeptide
- NF2: neurofibromin 2 (merlin)
- NLRP3: NLR family, pyrin domain containing 3
- NOD2: nucleotide-binding oligomerization domain containing 2
- OAT: ornithine aminotransferase
- OCRL: oculocerebrorenal syndrome of Lowe
- OTX2: orthodenticle homeobox 2
- PARK2: parkinson protein 2, E3 ubiquitin protein ligase (parkin)
- PCNT: pericentrin
- PINK1: PTEN induced putative kinase 1
- PKHD1: polycystic kidney and hepatic disease 1 (autosomal recessive)
- PKP2: plakophilin 2
- PLEC: plectin
- PML: promyelocytic leukemia
- PRF1: perforin 1 (pore forming protein)
- PTEN: phosphatase and tensin homolog
- RAB23: RAB23, member RAS oncogene family
- RAB7A: RAB7A, member RAS oncogene family
- RAD51: RAD51 homolog (S. cerevisiae)
- RAF1: v-raf-1 murine leukemia viral oncogene homolog 1
- RASA1: RAS p21 protein activator (GTPase activating protein) 1
- RB1: retinoblastoma 1
- RPGR: retinitis pigmentosa GTPase regulator
- RPL11: ribosomal protein L11
- RPL35A: ribosomal protein L35a
- RPL5: ribosomal protein L5
- RPS17: ribosomal protein S17
- RPS19: ribosomal protein S19
- RPS24: ribosomal protein S24
- RPS7: ribosomal protein S7
- SACS: spastic ataxia of Charlevoix-Saguenay (sacsin)
- SBDS: Shwachman-Bodian-Diamond syndrome
- SEPT9: septin 9
- SHANK3: SH3 and multiple ankyrin repeat domains 3
- SKI: v-ski sarcoma viral oncogene homolog (avian)
- SLC7A7: solute carrier family 7 (amino acid transporter light chain, y+L system), member 7
- SLC7A9: solute carrier family 7 (glycoprotein-associated amino acid transporter light chain, bo,+ system), member 9
- SMAD3: SMAD family member 3
- SMAD4: SMAD family member 4
- SMN2: survival of motor neuron 2, centromeric
- SNAI2: snail homolog 2 (Drosophila)
- SNCA: synuclein, alpha (non A4 component of amyloid precursor)
- SNCAIP: synuclein, alpha interacting protein
- SOST: sclerostin
- SOX9: SRY (sex determining region Y)-box 9
- SPAST: spastin
- SURF1: surfeit 1
- TAF1: TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa
- TAZ: tafazzin
- TCF4: transcription factor 4
- TEK: TEK tyrosine kinase, endothelial
- TERT: telomerase reverse transcriptase
- TGFB1: transforming growth factor, beta 1
- TINF2: TERF1 (TRF1)-interacting nuclear factor 2
- TNXB: tenascin XB
- TOR1A: torsin family 1, member A (torsin A)
- TP53: tumor protein p53
- TP63: tumor protein p63
- TRIOBP: TRIO and F-actin binding protein
- TRPV4: transient receptor potential cation channel, subfamily V, member 4
- TSC1: tuberous sclerosis 1
- TTN: titin
- VCP: valosin containing protein
- VWF: von Willebrand factor
- WAS: Wiskott-Aldrich syndrome
Source: Gene Ontology Consortium
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