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ACVRL1
: activin A receptor type II-like 1
AMELX
: amelogenin (amelogenesis imperfecta 1, X-linked)
ANG
: angiogenin, ribonuclease, RNase A family, 5
APOE
: apolipoprotein E
AR
: androgen receptor
BMPR2
: bone morphogenetic protein receptor, type II (serine/threonine kinase)
BRCA1
: breast cancer 1, early onset
BRCA2
: breast cancer 2, early onset
CD40LG
: CD40 ligand
CDKN1C
: cyclin-dependent kinase inhibitor 1C (p57, Kip2)
CHRNB2
: cholinergic receptor, nicotinic, beta 2 (neuronal)
COL4A3
: collagen, type IV, alpha 3 (Goodpasture antigen)
ELN
: elastin
ERBB2
: v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)
FLT4
: fms-related tyrosine kinase 4
FOXP3
: forkhead box P3
FXN
: frataxin
IGF2
: insulin-like growth factor 2 (somatomedin A)
IL1A
: interleukin 1, alpha
JAG1
: jagged 1 (Alagille syndrome)
KRT16
: keratin 16
KRT6A
: keratin 6A
LEPRE1
: leucine proline-enriched proteoglycan (leprecan) 1
LGI1
: leucine-rich, glioma inactivated 1
LRP5
: low density lipoprotein receptor-related protein 5
MEN1
: multiple endocrine neoplasia I
MFN2
: mitofusin 2
NDP
: Norrie disease (pseudoglioma)
NF1
: neurofibromin 1
NF2
: neurofibromin 2 (merlin)
NOTCH2
: Notch homolog 2 (Drosophila)
PROK2
: prokineticin 2
PTCH1
: patched homolog 1 (Drosophila)
PTEN
: phosphatase and tensin homolog
RAF1
: v-raf-1 murine leukemia viral oncogene homolog 1
SBDS
: Shwachman-Bodian-Diamond syndrome
STK11
: serine/threonine kinase 11
TBX5
: T-box 5
TGFBR2
: transforming growth factor, beta receptor II (70/80kDa)
TP53
: tumor protein p53
TSC1
: tuberous sclerosis 1
TSC2
: tuberous sclerosis 2
TSHR
: thyroid stimulating hormone receptor
VHL
: von Hippel-Lindau tumor suppressor
Source:
Gene Ontology
Consortium
(June 2009).
Published: November 20, 2009