abnormal eye pigment epithelium morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0005200
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Genes

130 gene mutations causing the abnormal eye pigment epithelium morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ABCA4 ATP-binding cassette, sub-family A (ABC1), member 4
ACER1 alkaline ceramidase 1
ACTN4 actinin, alpha 4
ALDH16A1 aldehyde dehydrogenase 16 family, member A1
AP3D1 adaptor-related protein complex 3, delta 1 subunit
APOE apolipoprotein E
ARHGAP25 Rho GTPase activating protein 25
ARHGAP35 Rho GTPase activating protein 35
ASNS asparagine synthetase (glutamine-hydrolyzing)
ATP8A1 ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1
ATP8A2 ATPase, aminophospholipid transporter, class I, type 8A, member 2
B4GALNT3 beta-1,4-N-acetyl-galactosaminyl transferase 3
BBS4 Bardet-Biedl syndrome 4
BEST1 bestrophin 1
BLOC1S4 biogenesis of lysosomal organelles complex-1, subunit 4, cappuccino
BLOC1S5 biogenesis of lysosomal organelles complex-1, subunit 5, muted
BMP7 bone morphogenetic protein 7
C1QTNF5 C1q and tumor necrosis factor related protein 5
CASP3 caspase 3, apoptosis-related cysteine peptidase
CCL13 chemokine (C-C motif) ligand 13
CCR2 chemokine (C-C motif) receptor 2
CDKN1B cyclin-dependent kinase inhibitor 1B (p27, Kip1)
CDKN2A cyclin-dependent kinase inhibitor 2A
CEP290 centrosomal protein 290kDa
CFAP36 cilia and flagella associated protein 36
CFH complement factor H
CHM choroideremia (Rab escort protein 1)
CLCN2 chloride channel, voltage-sensitive 2
CLCN7 chloride channel, voltage-sensitive 7
CLN8 ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)
CRB1 crumbs family member 1, photoreceptor morphogenesis associated
CRB2 crumbs family member 2
CRX cone-rod homeobox
CSNK2A1 casein kinase 2, alpha 1 polypeptide
CTNS cystinosin, lysosomal cystine transporter
DCC DCC netrin 1 receptor
DFNB31 deafness, autosomal recessive 31
DTNBP1 dystrobrevin binding protein 1
EFEMP1 EGF containing fibulin-like extracellular matrix protein 1
ELOVL4 ELOVL fatty acid elongase 4
FAM134C family with sequence similarity 134, member C
FAM151B family with sequence similarity 151, member B
FAT1 FAT atypical cadherin 1
FGF10 fibroblast growth factor 10
FOXC1 forkhead box C1
FOXC2 forkhead box C2
GAS1 growth arrest-specific 1
GNPAT glyceronephosphate O-acyltransferase
GPR143 G protein-coupled receptor 143
GSK3A glycogen synthase kinase 3 alpha
HPS1 Hermansky-Pudlak syndrome 1
HPS3 Hermansky-Pudlak syndrome 3
HPS4 Hermansky-Pudlak syndrome 4
HPS5 Hermansky-Pudlak syndrome 5
HS2ST1 heparan sulfate 2-O-sulfotransferase 1
KDM4D lysine (K)-specific demethylase 4D
KITLG KIT ligand
KXD1 KxDL motif containing 1
LCA5 Leber congenital amaurosis 5
LDLR low density lipoprotein receptor
LMO7 LIM domain 7
LRP5 low density lipoprotein receptor-related protein 5
LYST lysosomal trafficking regulator
MAB21L1 mab-21-like 1 (C. elegans)
MAB21L2 mab-21-like 2 (C. elegans)
MAP3K1 mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase
MDM1 Mdm1 nuclear protein homolog (mouse)
MED1 mediator complex subunit 1
MERTK MER proto-oncogene, tyrosine kinase
MFRP membrane frizzled-related protein
MITF microphthalmia-associated transcription factor
MRPL10 mitochondrial ribosomal protein L10
MSX2 msh homeobox 2
MYO7A myosin VIIA
NAGLU N-acetylglucosaminidase, alpha
NDP Norrie disease (pseudoglioma)
NPHP4 nephronophthisis 4
OAT ornithine aminotransferase
OTX2 orthodenticle homeobox 2
PAX2 paired box 2
PAX6 paired box 6
PDGFB platelet-derived growth factor beta polypeptide
PDGFC platelet derived growth factor C
PHACTR4 phosphatase and actin regulator 4
PIAS2 protein inhibitor of activated STAT, 2
PKNOX1 PBX/knotted 1 homeobox 1
PMEL premelanosome protein
PRIMPOL primase and polymerase (DNA-directed)
PROM1 prominin 1
PRPF3 pre-mRNA processing factor 3
PRPF31 pre-mRNA processing factor 31
PRPF8 pre-mRNA processing factor 8
PRPH2 peripherin 2 (retinal degeneration, slow)
RBP1 retinol binding protein 1, cellular
RHO rhodopsin
RPE65 retinal pigment epithelium-specific protein 65kDa
RS1 retinoschisin 1
RTBDN retbindin
RUNDC1 RUN domain containing 1
SECISBP2 SECIS binding protein 2
SEMA4A sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A
SERPINC1 serpin peptidase inhibitor, clade C (antithrombin), member 1
SERPINF1 serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1
SETD4 SET domain containing 4
SETMAR SET domain and mariner transposase fusion gene
SIRT1 sirtuin 1
SLC24A5 solute carrier family 24 (sodium/potassium/calcium exchanger), member 5
SLC30A8 solute carrier family 30 (zinc transporter), member 8
SLC35F6 solute carrier family 35, member F6
SLC9A8 solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8
SMOC1 SPARC related modular calcium binding 1
SOD2 superoxide dismutase 2, mitochondrial
STRA6 stimulated by retinoic acid 6
TBC1D32 TBC1 domain family, member 32
TCF4 transcription factor 4
TCF7L1 transcription factor 7-like 1 (T-cell specific, HMG-box)
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
TIMP3 TIMP metallopeptidase inhibitor 3
TLR4 toll-like receptor 4
TMEM189 transmembrane protein 189
TRAPPC6A trafficking protein particle complex 6A
TSFM Ts translation elongation factor, mitochondrial
TUB tubby bipartite transcription factor
TULP1 tubby like protein 1
UNC119 unc-119 homolog (C. elegans)
VLDLR very low density lipoprotein receptor
VPS33A vacuolar protein sorting 33 homolog A (S. cerevisiae)
VSX2 visual system homeobox 2
XXYLT1 xyloside xylosyltransferase 1
YDJC YdjC homolog (bacterial)