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ACVR1
: activin A receptor, type I
APC
: adenomatous polyposis coli
ATM
: ataxia telangiectasia mutated
BARD1
: BRCA1 associated RING domain 1
BLM
: Bloom syndrome, RecQ helicase-like
BRCA1
: breast cancer 1, early onset
BRCA2
: breast cancer 2, early onset
CDKN1C
: cyclin-dependent kinase inhibitor 1C (p57, Kip2)
DCTN1
: dynactin 1 (p150, glued homolog, Drosophila)
DNM2
: dynamin 2
DRD3
: dopamine receptor D3
EDN3
: endothelin 3
IGF2
: insulin-like growth factor 2 (somatomedin A)
IL1A
: interleukin 1, alpha
MSH6
: mutS homolog 6 (E. coli)
NBN
: nibrin
NOTCH2
: Notch homolog 2 (Drosophila)
PAFAH1B1
: platelet-activating factor acetylhydrolase, isoform Ib, subunit 1 (45kDa)
RAD50
: RAD50 homolog (S. cerevisiae)
RAD51
: RAD51 homolog (RecA homolog, E. coli) (S. cerevisiae)
RB1
: retinoblastoma 1
SBDS
: Shwachman-Bodian-Diamond syndrome
SMC1A
: structural maintenance of chromosomes 1A
SMC3
: structural maintenance of chromosomes 3
STK11
: serine/threonine kinase 11
TAF1
: TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa
TGFB1
: transforming growth factor, beta 1
TP53
: tumor protein p53
TTN
: titin
USH1C
: Usher syndrome 1C (autosomal recessive, severe)
Source:
Gene Ontology
Consortium
(June 2009).
Published: November 20, 2009