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ABCA1
: ATP-binding cassette, sub-family A (ABC1), member 1
ACVR1
: activin A receptor, type I
ALAS2
: aminolevulinate, delta-, synthase 2
ALS2
: amyotrophic lateral sclerosis 2 (juvenile)
AMELX
: amelogenin (amelogenesis imperfecta 1, X-linked)
ANG
: angiogenin, ribonuclease, RNase A family, 5
APOB
: apolipoprotein B (including Ag(x) antigen)
APOE
: apolipoprotein E
ATP2B2
: ATPase, Ca++ transporting, plasma membrane 2
ATP7A
: ATPase, Cu++ transporting, alpha polypeptide
BMPR1A
: bone morphogenetic protein receptor, type IA
BMPR2
: bone morphogenetic protein receptor, type II (serine/threonine kinase)
CCM2
: cerebral cavernous malformation 2
CHD7
: chromodomain helicase DNA binding protein 7
CHRNB2
: cholinergic receptor, nicotinic, beta 2 (neuronal)
COL4A4
: collagen, type IV, alpha 4
CUL7
: cullin 7
DFNB31
: deafness, autosomal recessive 31
DRD3
: dopamine receptor D3
EIF2B1
: eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa
EIF2B2
: eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa
EIF2B3
: eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa
EIF2B4
: eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa
EIF2B5
: eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa
ENG
: endoglin
ERAP1
: endoplasmic reticulum aminopeptidase 1
FGD1
: FYVE, RhoGEF and PH domain containing 1
G6PD
: glucose-6-phosphate dehydrogenase
GPR98
: G protein-coupled receptor 98
JAG1
: jagged 1 (Alagille syndrome)
KAL1
: Kallmann syndrome 1 sequence
KRT6A
: keratin 6A
LMX1B
: LIM homeobox transcription factor 1, beta
MEN1
: multiple endocrine neoplasia I
MFN2
: mitofusin 2
MITF
: microphthalmia-associated transcription factor
NF1
: neurofibromin 1
NF2
: neurofibromin 2 (merlin)
NOTCH2
: Notch homolog 2 (Drosophila)
OPA1
: optic atrophy 1 (autosomal dominant)
PAFAH1B1
: platelet-activating factor acetylhydrolase, isoform Ib, subunit 1 (45kDa)
PAX2
: paired box 2
PCSK9
: proprotein convertase subtilisin/kexin type 9
ROBO3
: roundabout, axon guidance receptor, homolog 3 (Drosophila)
RPS19
: ribosomal protein S19
RUNX2
: runt-related transcription factor 2
SOD1
: superoxide dismutase 1, soluble
TBX5
: T-box 5
TGFB1
: transforming growth factor, beta 1
TGFBR2
: transforming growth factor, beta receptor II (70/80kDa)
TH
: tyrosine hydroxylase
TP53
: tumor protein p53
TTN
: titin
USH2A
: Usher syndrome 2A (autosomal recessive, mild)
VHL
: von Hippel-Lindau tumor suppressor
ZAP70
: zeta-chain (TCR) associated protein kinase 70kDa
Source:
Gene Ontology
Consortium
(June 2009).
Published: November 20, 2009