abnormal anterior uvea morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of any of the parts of the front, or ventral, portion of the vascular, pigmentary, or middle coat of the eye, including the ciliary body and the iris (Mammalian Phenotype Ontology, MP_0005194)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0005194
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Genes

109 gene mutations causing the abnormal anterior uvea morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ADAM17 ADAM metallopeptidase domain 17
ALKBH1 alkB, alkylation repair homolog 1 (E. coli)
ANKRD12 ankyrin repeat domain 12
ATF4 activating transcription factor 4
B9D1 B9 protein domain 1
BCAR3 breast cancer anti-estrogen resistance 3
BMP4 bone morphogenetic protein 4
C1ORF198 chromosome 1 open reading frame 198
CD28 CD28 molecule
CDKN2A cyclin-dependent kinase inhibitor 2A
CENPJ centromere protein J
CHRM3 cholinergic receptor, muscarinic 3
CHRNA3 cholinergic receptor, nicotinic, alpha 3 (neuronal)
CHRNA9 cholinergic receptor, nicotinic, alpha 9 (neuronal)
CITED2 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2
CLK1 CDC-like kinase 1
COL4A1 collagen, type IV, alpha 1
CYB561 cytochrome b561
CYP1B1 cytochrome P450, family 1, subfamily B, polypeptide 1
DCT dopachrome tautomerase
DSG1 desmoglein 1
DTNBP1 dystrobrevin binding protein 1
EGLN3 egl-9 family hypoxia-inducible factor 3
EHD1 EH-domain containing 1
EMID1 EMI domain containing 1
FBXO47 F-box protein 47
FGF10 fibroblast growth factor 10
FGF11 fibroblast growth factor 11
FLNA filamin A, alpha
FOXC1 forkhead box C1
FOXC2 forkhead box C2
FOXE3 forkhead box E3
FOXF2 forkhead box F2
GAS1 growth arrest-specific 1
GJA1 gap junction protein, alpha 1, 43kDa
GLCE glucuronic acid epimerase
GLI3 GLI family zinc finger 3
GPNMB glycoprotein (transmembrane) nmb
GPR143 G protein-coupled receptor 143
GRHL3 grainyhead-like 3 (Drosophila)
GRIP1 glutamate receptor interacting protein 1
GSK3A glycogen synthase kinase 3 alpha
HPS1 Hermansky-Pudlak syndrome 1
HPS3 Hermansky-Pudlak syndrome 3
HS2ST1 heparan sulfate 2-O-sulfotransferase 1
JAG1 jagged 1
JMJD1C jumonji domain containing 1C
KDM4C lysine (K)-specific demethylase 4C
KDM8 lysine (K)-specific demethylase 8
KERA keratocan
KLHDC2 kelch domain containing 2
LGR4 leucine-rich repeat containing G protein-coupled receptor 4
LMX1B LIM homeobox transcription factor 1, beta
LRIG1 leucine-rich repeats and immunoglobulin-like domains 1
LYST lysosomal trafficking regulator
MAB21L1 mab-21-like 1 (C. elegans)
MAF v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog
MITF microphthalmia-associated transcription factor
MPI mannose phosphate isomerase
MSX2 msh homeobox 2
MYO10 myosin X
NCAPH non-SMC condensin I complex, subunit H
NDST1 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1
NMNAT1 nicotinamide nucleotide adenylyltransferase 1
NR1D2 nuclear receptor subfamily 1, group D, member 2
NRG1 neuregulin 1
NTRK1 neurotrophic tyrosine kinase, receptor, type 1
NXN nucleoredoxin
OTX1 orthodenticle homeobox 1
OTX2 orthodenticle homeobox 2
PAX6 paired box 6
PDC phosducin
PEX3 peroxisomal biogenesis factor 3
PHOX2B paired-like homeobox 2b
PITX2 paired-like homeodomain 2
PITX3 paired-like homeodomain 3
POU4F2 POU class 4 homeobox 2
PPP1R13L protein phosphatase 1, regulatory subunit 13 like
PRDX6 peroxiredoxin 6
PRSS56 protease, serine, 56
PVRL1 poliovirus receptor-related 1 (herpesvirus entry mediator C)
PVRL3 poliovirus receptor-related 3
PXDN peroxidasin
RAB38 RAB38, member RAS oncogene family
RPE65 retinal pigment epithelium-specific protein 65kDa
SETMAR SET domain and mariner transposase fusion gene
SFRP1 secreted frizzled-related protein 1
SH3PXD2B SH3 and PX domains 2B
SIRT1 sirtuin 1
SIRT6 sirtuin 6
SLC20A2 solute carrier family 20 (phosphate transporter), member 2
SLC24A5 solute carrier family 24 (sodium/potassium/calcium exchanger), member 5
SLX4 SLX4 structure-specific endonuclease subunit
SMOC1 SPARC related modular calcium binding 1
SNIP1 Smad nuclear interacting protein 1
SPARC secreted protein, acidic, cysteine-rich (osteonectin)
SPNS2 spinster homolog 2 (Drosophila)
TCF7 transcription factor 7 (T-cell specific, HMG-box)
TCF7L1 transcription factor 7-like 1 (T-cell specific, HMG-box)
TDRD7 tudor domain containing 7
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
TGFA transforming growth factor, alpha
TGFB2 transforming growth factor, beta 2
TMC8 transmembrane channel-like 8
TYR tyrosinase
TYRP1 tyrosinase-related protein 1
VAV2 vav 2 guanine nucleotide exchange factor
VPS33A vacuolar protein sorting 33 homolog A (S. cerevisiae)
ZEB1 zinc finger E-box binding homeobox 1