Source: UNIPROT

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C1136033
Disease: Cutaneous Mastocytosis
Cutaneous Mastocytosis 		0.680 GeneticVariation UNIPROT A new germline mutation in KIT associated with diffuse cutaneous mastocytosis in a Chinese family. 24289326

2014
Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C1136033
Disease: Cutaneous Mastocytosis
Cutaneous Mastocytosis 		0.680 GeneticVariation UNIPROT Novel, activating KIT-N822I mutation in familial cutaneous mastocytosis. 21689725

2011
Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C1136033
Disease: Cutaneous Mastocytosis
Cutaneous Mastocytosis 		0.680 GeneticVariation UNIPROT Pediatric mastocytosis is a clonal disease associated with D816V and other activating c-KIT mutations. 19865100

2010
Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C1136033
Disease: Cutaneous Mastocytosis
Cutaneous Mastocytosis 		0.680 GeneticVariation UNIPROT A germline mutation in KIT in familial diffuse cutaneous mastocytosis. 15173254

2004
Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C1136033
Disease: Cutaneous Mastocytosis
Cutaneous Mastocytosis 		0.680 GeneticVariation UNIPROT Activating and dominant inactivating c-KIT catalytic domain mutations in distinct clinical forms of human mastocytosis. 9990072

1999