Disease: Cutaneous Mastocytosis ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913509
rs121913509
Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C1136033
Disease:
Cutaneous Mastocytosis 		0.700 GeneticVariation UNIPROT A new germline mutation in KIT associated with diffuse cutaneous mastocytosis in a Chinese family. 24289326 2014
dbSNP: rs121913509
rs121913509
Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C1136033
Disease:
Cutaneous Mastocytosis 		0.700 GeneticVariation UNIPROT Novel, activating KIT-N822I mutation in familial cutaneous mastocytosis. 21689725 2011
dbSNP: rs121913509
rs121913509
Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C1136033
Disease:
Cutaneous Mastocytosis 		0.700 GeneticVariation UNIPROT Pediatric mastocytosis is a clonal disease associated with D816V and other activating c-KIT mutations. 19865100 2010
dbSNP: rs121913509
rs121913509
Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C1136033
Disease:
Cutaneous Mastocytosis 		0.700 GeneticVariation UNIPROT A germline mutation in KIT in familial diffuse cutaneous mastocytosis. 15173254 2004
dbSNP: rs121913509
rs121913509
Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C1136033
Disease:
Cutaneous Mastocytosis 		0.700 GeneticVariation UNIPROT Activating and dominant inactivating c-KIT catalytic domain mutations in distinct clinical forms of human mastocytosis. 9990072 1999