Disease: Piebaldism ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913684
rs121913684
Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C0080024
Disease:
Piebaldism 		0.700 GeneticVariation UNIPROT Three novel mutations of the proto-oncogene KIT cause human piebaldism. 11074500 2000
dbSNP: rs121913684
rs121913684
Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C0080024
Disease:
Piebaldism 		0.700 GeneticVariation UNIPROT In a South African girl of Xhosa stock with severe piebaldism and profound congenital sensorineural deafness we identified a novel missense substitution at a highly conserved residue in the intracellular kinase domain of the KIT proto-oncogene, R796G. 9450866 1998
dbSNP: rs121913684
rs121913684
Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C0080024
Disease:
Piebaldism 		0.700 GeneticVariation UNIPROT A novel KIT gene missense mutation in a Japanese family with piebaldism. 9699740 1998
dbSNP: rs121913684
rs121913684
Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C0080024
Disease:
Piebaldism 		0.700 GeneticVariation UNIPROT A 12-bp deletion (7818del12) in the c-kit protooncogene in a large Italian kindred with piebaldism. 8680409 1995
dbSNP: rs121913684
rs121913684
Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C0080024
Disease:
Piebaldism 		0.700 GeneticVariation UNIPROT Novel mutations of the KIT (mast/stem cell growth factor receptor) proto-oncogene in human piebaldism. 7687267 1993
dbSNP: rs121913684
rs121913684
Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C0080024
Disease:
Piebaldism 		0.700 GeneticVariation UNIPROT Human piebald trait resulting from a dominant negative mutant allele of the c-kit membrane receptor gene. 1376329 1992
dbSNP: rs121913684
rs121913684
Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C0080024
Disease:
Piebaldism 		0.700 GeneticVariation UNIPROT Dominant negative and loss of function mutations of the c-kit (mast/stem cell growth factor receptor) proto-oncogene in human piebaldism. 1370874 1992
dbSNP: rs121913684
rs121913684
Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C0080024
Disease:
Piebaldism 		0.700 GeneticVariation UNIPROT Mutation of the KIT (mast/stem cell growth factor receptor) protooncogene in human piebaldism. 1717985 1991