rs121913506, KIT

N. diseases: 24
Disease: Cutaneous Mastocytosis ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Cutaneous Mastocytosis
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
Cutaneous Mastocytosis
CUI: C1136033
Disease: Cutaneous Mastocytosis
0.700 GeneticVariation UNIPROT Novel, activating KIT-N822I mutation in familial cutaneous mastocytosis. 21689725 2011
Cutaneous Mastocytosis
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
Cutaneous Mastocytosis
CUI: C1136033
Disease: Cutaneous Mastocytosis
0.700 GeneticVariation UNIPROT A germline mutation in KIT in familial diffuse cutaneous mastocytosis. 15173254 2004
Cutaneous Mastocytosis
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