white spotting Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description the appearance of patches of white fur (Mammalian Phenotype Ontology, MP_0002938)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0002938
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Genes

38 gene mutations causing the white spotting 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
DOCK7 dedicator of cytokinesis 7
EDN3 endothelin 3
EDNRB endothelin receptor type B
EIF3C eukaryotic translation initiation factor 3, subunit C
ERCC2 excision repair cross-complementation group 2
FREM2 FRAS1 related extracellular matrix protein 2
GLI3 GLI family zinc finger 3
GPC3 glypican 3
GPR161 G protein-coupled receptor 161
GTF2IRD1 GTF2I repeat domain containing 1
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
KITLG KIT ligand
LMX1A LIM homeobox transcription factor 1, alpha
MCOLN3 mucolipin 3
MITF microphthalmia-associated transcription factor
MYO10 myosin X
MYSM1 Myb-like, SWIRM and MPN domains 1
NSDHL NAD(P) dependent steroid dehydrogenase-like
PAX3 paired box 3
PAX6 paired box 6
PCBD1 pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha
PFAS phosphoribosylformylglycinamidine synthase
PLXNB2 plexin B2
PTCH1 patched 1
PXDN peroxidasin
RFWD2 ring finger and WD repeat domain 2, E3 ubiquitin protein ligase
RPL24 ribosomal protein L24
RPL38 ribosomal protein L38
RPS7 ribosomal protein S7
RUVBL2 RuvB-like AAA ATPase 2
SEMA4C sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C
SNAI2 snail family zinc finger 2
SOX10 SRY (sex determining region Y)-box 10
TBX10 T-box 10
TYR tyrosinase
ZIC2 Zic family member 2