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ABCA1
: ATP-binding cassette, sub-family A (ABC1), member 1
ACVR1
: activin A receptor, type I
ACVRL1
: activin A receptor type II-like 1
ADA
: adenosine deaminase
ADAMTS13
: ADAM metallopeptidase with thrombospondin type 1 motif, 13
AGPAT2
: 1-acylglycerol-3-phosphate O-acyltransferase 2 (lysophosphatidic acid acyltransferase, beta)
ALDH5A1
: aldehyde dehydrogenase 5 family, member A1
ALS2
: amyotrophic lateral sclerosis 2 (juvenile)
AMELX
: amelogenin (amelogenesis imperfecta 1, X-linked)
ANG
: angiogenin, ribonuclease, RNase A family, 5
APC
: adenomatous polyposis coli
APOE
: apolipoprotein E
AR
: androgen receptor
ARFGEF2
: ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)
ATG16L1
: ATG16 autophagy related 16-like 1 (S. cerevisiae)
ATM
: ataxia telangiectasia mutated
BLM
: Bloom syndrome, RecQ helicase-like
BMPR1A
: bone morphogenetic protein receptor, type IA
BMPR2
: bone morphogenetic protein receptor, type II (serine/threonine kinase)
BRAF
: v-raf murine sarcoma viral oncogene homolog B1
BRCA1
: breast cancer 1, early onset
BRIP1
: BRCA1 interacting protein C-terminal helicase 1
BTK
: Bruton agammaglobulinemia tyrosine kinase
CCM2
: cerebral cavernous malformation 2
CDKN1C
: cyclin-dependent kinase inhibitor 1C (p57, Kip2)
CHD7
: chromodomain helicase DNA binding protein 7
CHEK2
: CHK2 checkpoint homolog (S. pombe)
CHRNA2
: cholinergic receptor, nicotinic, alpha 2 (neuronal)
CHRNA4
: cholinergic receptor, nicotinic, alpha 4
CHRNB2
: cholinergic receptor, nicotinic, beta 2 (neuronal)
CLN3
: ceroid-lipofuscinosis, neuronal 3
CNGA3
: cyclic nucleotide gated channel alpha 3
CNGB3
: cyclic nucleotide gated channel beta 3
COL1A2
: collagen, type I, alpha 2
COL3A1
: collagen, type III, alpha 1
COL4A3
: collagen, type IV, alpha 3 (Goodpasture antigen)
COL4A4
: collagen, type IV, alpha 4
CREBBP
: CREB binding protein
CTNND2
: catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)
DBH
: dopamine beta-hydroxylase (dopamine beta-monooxygenase)
DIRAS3
: DIRAS family, GTP-binding RAS-like 3
DNM2
: dynamin 2
DRD3
: dopamine receptor D3
DUOX2
: dual oxidase 2
EDA
: ectodysplasin A
EDARADD
: EDAR-associated death domain
EDN3
: endothelin 3
EDNRB
: endothelin receptor type B
EIF2B2
: eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa
EIF2B4
: eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa
EIF2B5
: eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa
ENG
: endoglin
EP300
: E1A binding protein p300
ERBB2
: v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)
EXT1
: exostoses (multiple) 1
EXT2
: exostoses (multiple) 2
F2
: coagulation factor II (thrombin)
FGD1
: FYVE, RhoGEF and PH domain containing 1
FGFR1
: fibroblast growth factor receptor 1
FGFR2
: fibroblast growth factor receptor 2
FGFR3
: fibroblast growth factor receptor 3
FGFR4
: fibroblast growth factor receptor 4
FLNA
: filamin A, alpha
FLT4
: fms-related tyrosine kinase 4
FOXC2
: forkhead box C2 (MFH-1, mesenchyme forkhead 1)
GJA1
: gap junction protein, alpha 1, 43kDa
GJB1
: gap junction protein, beta 1, 32kDa
GJB2
: gap junction protein, beta 2, 26kDa
GJB3
: gap junction protein, beta 3, 31kDa
GLI3
: GLI family zinc finger 3
GNAS
: GNAS complex locus
GNAT2
: guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2
GPR143
: G protein-coupled receptor 143
GPR56
: G protein-coupled receptor 56
GTF2I
: general transcription factor IIi
HRAS
: v-Ha-ras Harvey rat sarcoma viral oncogene homolog
IGF2
: insulin-like growth factor 2 (somatomedin A)
IKBKG
: inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
IL1A
: interleukin 1, alpha
IL2RG
: interleukin 2 receptor, gamma (severe combined immunodeficiency)
KCNA1
: potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)
KIF1B
: kinesin family member 1B
KRAS
: v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog
KRIT1
: KRIT1, ankyrin repeat containing
LIMK1
: LIM domain kinase 1
LITAF
: lipopolysaccharide-induced TNF factor
LRP5
: low density lipoprotein receptor-related protein 5
LRRK2
: leucine-rich repeat kinase 2
MAP2K1
: mitogen-activated protein kinase kinase 1
MAP2K2
: mitogen-activated protein kinase kinase 2
MC1R
: melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)
MED12
: mediator complex subunit 12
MEN1
: multiple endocrine neoplasia I
MFN2
: mitofusin 2
MPZ
: myelin protein zero
MYO6
: myosin VI
NBN
: nibrin
NDP
: Norrie disease (pseudoglioma)
NF1
: neurofibromin 1
NF2
: neurofibromin 2 (merlin)
NLRP12
: NLR family, pyrin domain containing 12
NLRP3
: NLR family, pyrin domain containing 3
NOD2
: nucleotide-binding oligomerization domain containing 2
NOTCH2
: Notch homolog 2 (Drosophila)
NR0B1
: nuclear receptor subfamily 0, group B, member 1
NR4A2
: nuclear receptor subfamily 4, group A, member 2
NR5A1
: nuclear receptor subfamily 5, group A, member 1
OPN1LW
: opsin 1 (cone pigments), long-wave-sensitive
OPN1MW
: opsin 1 (cone pigments), medium-wave-sensitive
OPN1SW
: opsin 1 (cone pigments), short-wave-sensitive
PAH
: phenylalanine hydroxylase
PARK7
: Parkinson disease (autosomal recessive, early onset) 7
PCSK9
: proprotein convertase subtilisin/kexin type 9
PINK1
: PTEN induced putative kinase 1
PLP1
: proteolipid protein 1
PMP22
: peripheral myelin protein 22
PRKAG2
: protein kinase, AMP-activated, gamma 2 non-catalytic subunit
PROK2
: prokineticin 2
PRX
: periaxin
PSEN1
: presenilin 1
PSEN2
: presenilin 2 (Alzheimer disease 4)
PTCH1
: patched homolog 1 (Drosophila)
PTEN
: phosphatase and tensin homolog
PTPN11
: protein tyrosine phosphatase, non-receptor type 11
RAF1
: v-raf-1 murine leukemia viral oncogene homolog 1
RB1
: retinoblastoma 1
RET
: ret proto-oncogene
ROR2
: receptor tyrosine kinase-like orphan receptor 2
RPS6KA3
: ribosomal protein S6 kinase, 90kDa, polypeptide 3
SBF2
: SET binding factor 2
SH3BP2
: SH3-domain binding protein 2
SLC1A3
: solute carrier family 1 (glial high affinity glutamate transporter), member 3
SMAD4
: SMAD family member 4
SMC1A
: structural maintenance of chromosomes 1A
SMC3
: structural maintenance of chromosomes 3
SMPD1
: sphingomyelin phosphodiesterase 1, acid lysosomal
SNAI2
: snail homolog 2 (Drosophila)
SNCAIP
: synuclein, alpha interacting protein
SOD1
: superoxide dismutase 1, soluble
SOS1
: son of sevenless homolog 1 (Drosophila)
SOST
: sclerosteosis
SRD5A2
: steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)
STAT3
: signal transducer and activator of transcription 3 (acute-phase response factor)
TBX5
: T-box 5
TEK
: TEK tyrosine kinase, endothelial
TG
: thyroglobulin
TGFB1
: transforming growth factor, beta 1
TGFBR2
: transforming growth factor, beta receptor II (70/80kDa)
TH
: tyrosine hydroxylase
TP53
: tumor protein p53
TSC1
: tuberous sclerosis 1
TSC2
: tuberous sclerosis 2
TSHB
: thyroid stimulating hormone, beta
TSHR
: thyroid stimulating hormone receptor
TYROBP
: TYRO protein tyrosine kinase binding protein
USP9Y
: ubiquitin specific peptidase 9, Y-linked
VAPB
: VAMP (vesicle-associated membrane protein)-associated protein B and C
VCP
: valosin-containing protein
VLDLR
: very low density lipoprotein receptor
WFS1
: Wolfram syndrome 1 (wolframin)
WNT3
: wingless-type MMTV integration site family, member 3
WNT4
: wingless-type MMTV integration site family, member 4
YWHAE
: tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide
ZAP70
: zeta-chain (TCR) associated protein kinase 70kDa
Source:
Gene Ontology
Consortium
(June 2009).
Published: November 20, 2009