abnormal ear pigmentation Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description anomaly in the coloration of the skin of the outer ear due to changes in the amount, shape, or distribution of cells producing pigment (Mammalian Phenotype Ontology, MP_0000015)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0000015
Similar Terms
Downloads & Tools

Genes

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

Symbol Name
ACD adrenocortical dysplasia homolog (mouse)
AP3B1 adaptor-related protein complex 3, beta 1 subunit
BLOC1S3 biogenesis of lysosomal organelles complex-1, subunit 3
CBL Cbl proto-oncogene, E3 ubiquitin protein ligase
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
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
KITLG KIT ligand
KRT2 keratin 2, type II
LYST lysosomal trafficking regulator
MC1R melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)
MITF microphthalmia-associated transcription factor
MYO5A myosin VA (heavy chain 12, myoxin)
OCA2 oculocutaneous albinism II
POLH polymerase (DNA directed), eta
RPL27A ribosomal protein L27a
SLC24A5 solute carrier family 24 (sodium/potassium/calcium exchanger), member 5