Disease: Skin Mastocytoma ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0343115
Disease: Skin Mastocytoma
Skin Mastocytoma 		0.310 GeneticVariation disease BEFREE Paediatric solitary mastocytoma is frequently associated with KIT activating mutations, in keeping with a clonal process. 24128084 2014
CUI: C0343115
Disease: Skin Mastocytoma
Skin Mastocytoma 		0.310 GermlineCausalMutation disease ORPHANET Pediatric mastocytosis is a clonal disease associated with D816V and other activating c-KIT mutations. 19865100 2010
CUI: C0343115
Disease: Skin Mastocytoma
Skin Mastocytoma 		0.310 GermlineCausalMutation disease ORPHANET Association of paediatric mastocytosis with a polymorphism resulting in an amino acid substitution (M541L) in the transmembrane domain of c-KIT. 18795925 2008