Source: ORPHANET

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C0343115
Disease: Skin Mastocytoma
Skin Mastocytoma 		0.310 GermlineCausalMutation ORPHANET 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: C0343115
Disease: Skin Mastocytoma
Skin Mastocytoma 		0.310 GermlineCausalMutation ORPHANET Association of paediatric mastocytosis with a polymorphism resulting in an amino acid substitution (M541L) in the transmembrane domain of c-KIT. 18795925

2008