Piebaldism Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description OMIM mapping confirmed by DO. [SN]. (Human Disease Ontology, DOID_3263)
External Link https://www.disgenet.org/browser/0/1/0/C0080024
Similar Terms
Downloads & Tools

Genes

31 genes associated with the disease Piebaldism in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ABO ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)
ASS1 argininosuccinate synthase 1
CALCR calcitonin receptor
CALR calreticulin
CLEC11A C-type lectin domain family 11, member A
FOXO1 forkhead box O1
GABPA GA binding protein transcription factor, alpha subunit 60kDa
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
KITLG KIT ligand
LAMTOR2 late endosomal/lysosomal adaptor, MAPK and MTOR activator 2
LYST lysosomal trafficking regulator
MC1R melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)
MITF microphthalmia-associated transcription factor
MLPH melanophilin
MYO5A myosin VA (heavy chain 12, myoxin)
NFE2L2 nuclear factor, erythroid 2-like 2
OCA2 oculocutaneous albinism II
PAX3 paired box 3
PDGFRA platelet-derived growth factor receptor, alpha polypeptide
PTX3 pentraxin 3, long
RAB27A RAB27A, member RAS oncogene family
RET ret proto-oncogene
RTEL1 regulator of telomere elongation helicase 1
SLC6A8 solute carrier family 6 (neurotransmitter transporter), member 8
SNAI1 snail family zinc finger 1
SNAI2 snail family zinc finger 2
SPRED1 sprouty-related, EVH1 domain containing 1
TERT telomerase reverse transcriptase
TYR tyrosinase
TYRP1 tyrosinase-related protein 1
UCN urocortin