abnormal retinal pigmentation 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:0005103
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64 gene mutations causing the abnormal retinal pigmentation phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ACER1 alkaline ceramidase 1
ACTN4 actinin, alpha 4
ALDH16A1 aldehyde dehydrogenase 16 family, member A1
ARHGAP25 Rho GTPase activating protein 25
ASNS asparagine synthetase (glutamine-hydrolyzing)
ATP8A1 ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1
B4GALNT3 beta-1,4-N-acetyl-galactosaminyl transferase 3
BLOC1S4 biogenesis of lysosomal organelles complex-1, subunit 4, cappuccino
BMP7 bone morphogenetic protein 7
CDKN2A cyclin-dependent kinase inhibitor 2A
CFAP36 cilia and flagella associated protein 36
CHM choroideremia (Rab escort protein 1)
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
FAM134C family with sequence similarity 134, member C
FAM151B family with sequence similarity 151, member B
FGF10 fibroblast growth factor 10
GPR143 G protein-coupled receptor 143
HPS3 Hermansky-Pudlak syndrome 3
KDM4D lysine (K)-specific demethylase 4D
KITLG KIT ligand
KXD1 KxDL motif containing 1
LCA5 Leber congenital amaurosis 5
LMO7 LIM domain 7
LYST lysosomal trafficking regulator
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
MITF microphthalmia-associated transcription factor
MRPL10 mitochondrial ribosomal protein L10
NDP Norrie disease (pseudoglioma)
NPHP4 nephronophthisis 4
PAX2 paired box 2
PDGFC platelet derived growth factor C
PIAS2 protein inhibitor of activated STAT, 2
PMEL premelanosome protein
PRIMPOL primase and polymerase (DNA-directed)
PROM1 prominin 1
RHO rhodopsin
RPE65 retinal pigment epithelium-specific protein 65kDa
RTBDN retbindin
RUNDC1 RUN domain containing 1
SECISBP2 SECIS binding protein 2
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
SLC9A8 solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8
TCF4 transcription factor 4
TMEM189 transmembrane protein 189
TRAPPC6A trafficking protein particle complex 6A
TSFM Ts translation elongation factor, mitochondrial
VLDLR very low density lipoprotein receptor
VSX2 visual system homeobox 2
XXYLT1 xyloside xylosyltransferase 1
YDJC YdjC homolog (bacterial)