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ACVR1
: activin A receptor, type I
APOE
: apolipoprotein E
ATP7A
: ATPase, Cu++ transporting, alpha polypeptide (Menkes syndrome)
BARD1
: BRCA1 associated RING domain 1
BRAF
: v-raf murine sarcoma viral oncogene homolog B1
BRCA1
: breast cancer 1, early onset
BTK
: Bruton agammaglobulinemia tyrosine kinase
CACNA1A
: calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
CD40LG
: CD40 ligand
CHEK2
: CHK2 checkpoint homolog (S. pombe)
COL4A3
: collagen, type IV, alpha 3 (Goodpasture antigen)
DNM2
: dynamin 2
EP300
: E1A binding protein p300
F2
: coagulation factor II (thrombin)
FOXL2
: forkhead box L2
HSPB1
: heat shock 27kDa protein 1
HTT
: huntingtin
IKBKG
: inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
LRRK2
: leucine-rich repeat kinase 2
LYST
: lysosomal trafficking regulator
MSH2
: mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)
NF1
: neurofibromin 1 (neurofibromatosis, von Recklinghausen disease, Watson disease)
NLRP12
: NLR family, pyrin domain containing 12
NOTCH2
: Notch homolog 2 (Drosophila)
PAX3
: paired box 3
PCSK9
: proprotein convertase subtilisin/kexin type 9
PRODH
: proline dehydrogenase (oxidase) 1
PROK2
: prokineticin 2
PSEN1
: presenilin 1 (Alzheimer disease 3)
PSEN2
: presenilin 2 (Alzheimer disease 4)
PTEN
: phosphatase and tensin homolog (mutated in multiple advanced cancers 1)
RAF1
: v-raf-1 murine leukemia viral oncogene homolog 1
SNCA
: synuclein, alpha (non A4 component of amyloid precursor)
SOD1
: superoxide dismutase 1, soluble (amyotrophic lateral sclerosis 1 (adult))
TBX5
: T-box 5
TGFB1
: transforming growth factor, beta 1
TP53
: tumor protein p53
VHL
: von Hippel-Lindau tumor suppressor
WFS1
: Wolfram syndrome 1 (wolframin)
WRN
: Werner syndrome
YARS
: tyrosyl-tRNA synthetase
Source:
Gene Ontology
Consortium
(September 2008).
Published: December 1, 2008