abnormal melanocyte morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the cells that produce pigment (Mammalian Phenotype Ontology, MP_0002877)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0002877
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Genes

50 gene mutations causing the abnormal melanocyte morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ADAMTS20 ADAM metallopeptidase with thrombospondin type 1 motif, 20
AP3B1 adaptor-related protein complex 3, beta 1 subunit
ARCN1 archain 1
ATP7A ATPase, Cu++ transporting, alpha polypeptide
BCL2 B-cell CLL/lymphoma 2
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
BRAF B-Raf proto-oncogene, serine/threonine kinase
DTNBP1 dystrobrevin binding protein 1
ECE1 endothelin converting enzyme 1
EDA ectodysplasin A
EDN3 endothelin 3
EDNRB endothelin receptor type B
ELOVL3 ELOVL fatty acid elongase 3
FAS Fas cell surface death receptor
FIG4 FIG4 phosphoinositide 5-phosphatase
FOXN1 forkhead box N1
GATA3 GATA binding protein 3
GPR143 G protein-coupled receptor 143
HPS1 Hermansky-Pudlak syndrome 1
HPS3 Hermansky-Pudlak syndrome 3
HPS4 Hermansky-Pudlak syndrome 4
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
KRT17 keratin 17, type I
KXD1 KxDL motif containing 1
LEF1 lymphoid enhancer-binding factor 1
LIPH lipase, member H
LMNA lamin A/C
LYST lysosomal trafficking regulator
MC1R melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)
MITF microphthalmia-associated transcription factor
MLANA melan-A
MPZL3 myelin protein zero-like 3
MYO5A myosin VA (heavy chain 12, myoxin)
NDP Norrie disease (pseudoglioma)
PMEL premelanosome protein
PRKCZ protein kinase C, zeta
RAB27A RAB27A, member RAS oncogene family
RAB38 RAB38, member RAS oncogene family
S1PR2 sphingosine-1-phosphate receptor 2
SLC24A5 solute carrier family 24 (sodium/potassium/calcium exchanger), member 5
SLC26A4 solute carrier family 26 (anion exchanger), member 4
SOX10 SRY (sex determining region Y)-box 10
TRAPPC6A trafficking protein particle complex 6A
TYR tyrosinase
TYRP1 tyrosinase-related protein 1
VPS33A vacuolar protein sorting 33 homolog A (S. cerevisiae)
ZDHHC21 zinc finger, DHHC-type containing 21