abnormal skin pigmentation Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description An abnormality of the pigmentation of the skin. (Human Phenotype Ontology, HP_0001000)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0002095
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Genes

74 gene mutations causing the abnormal skin pigmentation phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ABCA4 ATP-binding cassette, sub-family A (ABC1), member 4
ACD adrenocortical dysplasia homolog (mouse)
ADAMTS20 ADAM metallopeptidase with thrombospondin type 1 motif, 20
AEBP2 AE binding protein 2
ANK1 ankyrin 1, erythrocytic
AP3B1 adaptor-related protein complex 3, beta 1 subunit
ASCL1 achaete-scute family bHLH transcription factor 1
ASIP agouti signaling protein
ATP7A ATPase, Cu++ transporting, alpha polypeptide
BARX2 BARX homeobox 2
BLOC1S3 biogenesis of lysosomal organelles complex-1, subunit 3
BRAF B-Raf proto-oncogene, serine/threonine kinase
BRCA1 breast cancer 1, early onset
CBL Cbl proto-oncogene, E3 ubiquitin protein ligase
CBX6 chromobox homolog 6
CHRNG cholinergic receptor, nicotinic, gamma (muscle)
CTLA4 cytotoxic T-lymphocyte-associated protein 4
DOCK7 dedicator of cytokinesis 7
DSG4 desmoglein 4
DST dystonin
DUSP1 dual specificity phosphatase 1
EDA ectodysplasin A
EDARADD EDAR-associated death domain
EDNRB endothelin receptor type B
EGFR epidermal growth factor receptor
EN1 engrailed homeobox 1
FGFR2 fibroblast growth factor receptor 2
FOXN1 forkhead box N1
GNA11 guanine nucleotide binding protein (G protein), alpha 11 (Gq class)
GNAQ guanine nucleotide binding protein (G protein), q polypeptide
HPS1 Hermansky-Pudlak syndrome 1
HPS4 Hermansky-Pudlak syndrome 4
HPS5 Hermansky-Pudlak syndrome 5
HPS6 Hermansky-Pudlak syndrome 6
IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
IL22RA1 interleukin 22 receptor, alpha 1
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
KITLG KIT ligand
KRT1 keratin 1, type II
KRT2 keratin 2, type II
KRT4 keratin 4, type II
LMNA lamin A/C
LYST lysosomal trafficking regulator
MC1R melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)
MCOLN3 mucolipin 3
MDM2 MDM2 proto-oncogene, E3 ubiquitin protein ligase
MDM4 MDM4, p53 regulator
MITF microphthalmia-associated transcription factor
MYO10 myosin X
MYO5A myosin VA (heavy chain 12, myoxin)
MYO7A myosin VIIA
OCA2 oculocutaneous albinism II
PAX3 paired box 3
POLH polymerase (DNA directed), eta
PTPN6 protein tyrosine phosphatase, non-receptor type 6
RAB27A RAB27A, member RAS oncogene family
RAB38 RAB38, member RAS oncogene family
RAG1 recombination activating gene 1
RECQL4 RecQ protein-like 4
RPL27A ribosomal protein L27a
RPS19 ribosomal protein S19
RPS20 ribosomal protein S20
SLC24A5 solute carrier family 24 (sodium/potassium/calcium exchanger), member 5
SLC45A2 solute carrier family 45, member 2
SNAI2 snail family zinc finger 2
SOX10 SRY (sex determining region Y)-box 10
SPAG9 sperm associated antigen 9
SPTA1 spectrin, alpha, erythrocytic 1
TAL1 T-cell acute lymphocytic leukemia 1
TP53 tumor protein p53
TRAF6 TNF receptor-associated factor 6, E3 ubiquitin protein ligase
TTC7A tetratricopeptide repeat domain 7A
TYR tyrosinase
USP4 ubiquitin specific peptidase 4 (proto-oncogene)