abnormal extracutaneous pigmentation Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description anomaly in the coloration of organs and tissues excluding the integument due to changes in the amount, shape, or distribution of cells producing pigment (Mammalian Phenotype Ontology, MP_0009389)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0009389
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Genes

158 gene mutations causing the abnormal extracutaneous pigmentation 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
AP3B1 adaptor-related protein complex 3, beta 1 subunit
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
BLOC1S3 biogenesis of lysosomal organelles complex-1, subunit 3
BLOC1S4 biogenesis of lysosomal organelles complex-1, subunit 4, cappuccino
BLOC1S5 biogenesis of lysosomal organelles complex-1, subunit 5, muted
BLOC1S6 biogenesis of lysosomal organelles complex-1, subunit 6, pallidin
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
DCT dopachrome tautomerase
DFNB31 deafness, autosomal recessive 31
DPH1 diphthamide biosynthesis 1
DTNBP1 dystrobrevin binding protein 1
ECE1 endothelin converting enzyme 1
EDNRB endothelin receptor type B
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
FAS Fas cell surface death receptor
FAT1 FAT atypical cadherin 1
FGF10 fibroblast growth factor 10
FOXC1 forkhead box C1
FOXC2 forkhead box C2
FUZ fuzzy planar cell polarity protein
GAS1 growth arrest-specific 1
GNPAT glyceronephosphate O-acyltransferase
GPNMB glycoprotein (transmembrane) nmb
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
HPS6 Hermansky-Pudlak syndrome 6
HS2ST1 heparan sulfate 2-O-sulfotransferase 1
KDM4D lysine (K)-specific demethylase 4D
KDM8 lysine (K)-specific demethylase 8
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
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
NCOA6 nuclear receptor coactivator 6
NDP Norrie disease (pseudoglioma)
NF1 neurofibromin 1
NPHP4 nephronophthisis 4
OAT ornithine aminotransferase
OCA2 oculocutaneous albinism II
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
PDPK1 3-phosphoinositide dependent protein kinase 1
PHACTR4 phosphatase and actin regulator 4
PIAS2 protein inhibitor of activated STAT, 2
PITX3 paired-like homeodomain 3
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)
RAB27A RAB27A, member RAS oncogene family
RAB38 RAB38, member RAS oncogene family
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
S1PR2 sphingosine-1-phosphate receptor 2
SECISBP2 SECIS binding protein 2
SEMA3C sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C
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
SLC26A4 solute carrier family 26 (anion exchanger), member 4
SLC30A8 solute carrier family 30 (zinc transporter), member 8
SLC35F6 solute carrier family 35, member F6
SLC45A2 solute carrier family 45, member 2
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
SPNS2 spinster homolog 2 (Drosophila)
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
TMC8 transmembrane channel-like 8
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
TYR tyrosinase
TYRP1 tyrosinase-related 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)