Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1136033
Disease: Cutaneous Mastocytosis
Cutaneous Mastocytosis
0.680 GeneticVariation disease BEFREE Evaluation of peripheral c-KIT mutation had no diagnostic contribution among pediatric patients with CM in contrast to adults. 30819282 2019
CUI: C1136033
Disease: Cutaneous Mastocytosis
Cutaneous Mastocytosis
0.680 GeneticVariation disease BEFREE We propose considering the KIT mutation status and bone marrow tryptase levels to aid the diagnosis of isolated CM in adult mastocytosis patients. 31009132 2019
CUI: C1136033
Disease: Cutaneous Mastocytosis
Cutaneous Mastocytosis
0.680 GeneticVariation disease BEFREE Somatic activating mutations in the mast cell growth factor KIT gene cause cutaneous mastocytosis in young children and systemic mastocytosis with a more guarded prognosis in adults who may also harbor other gene mutations with oncogenic potential as they age. 30390314 2019
CUI: C1136033
Disease: Cutaneous Mastocytosis
Cutaneous Mastocytosis
0.680 GeneticVariation disease BEFREE Detection of KIT D816V in peripheral blood of children with manifestations of cutaneous mastocytosis suggests systemic disease. 30488427 2018
CUI: C1136033
Disease: Cutaneous Mastocytosis
Cutaneous Mastocytosis
0.680 GeneticVariation disease BEFREE No significant association between evolution and KIT mutation or between evolution and type of cutaneous mastocytosis was found. 29787623 2018
CUI: C1136033
Disease: Cutaneous Mastocytosis
Cutaneous Mastocytosis
0.680 GeneticVariation disease UNIPROT A new germline mutation in KIT associated with diffuse cutaneous mastocytosis in a Chinese family. 24289326 2014
CUI: C1136033
Disease: Cutaneous Mastocytosis
Cutaneous Mastocytosis
0.680 GeneticVariation disease BEFREE KIT mutations have been described in more than 80% of SM, but only in the minority of cutaneous mastocytoses (CM). 23666690 2013
CUI: C1136033
Disease: Cutaneous Mastocytosis
Cutaneous Mastocytosis
0.680 GeneticVariation disease BEFREE Novel, activating KIT-N822I mutation in familial cutaneous mastocytosis. 21689725 2011
CUI: C1136033
Disease: Cutaneous Mastocytosis
Cutaneous Mastocytosis
0.680 GeneticVariation disease UNIPROT Novel, activating KIT-N822I mutation in familial cutaneous mastocytosis. 21689725 2011
CUI: C1136033
Disease: Cutaneous Mastocytosis
Cutaneous Mastocytosis
0.680 GeneticVariation disease UNIPROT Pediatric mastocytosis is a clonal disease associated with D816V and other activating c-KIT mutations. 19865100 2010
CUI: C1136033
Disease: Cutaneous Mastocytosis
Cutaneous Mastocytosis
0.680 GeneticVariation disease BEFREE C-kit receptor mutations have been identified as causative for CM, some of which potentially respond to imatinib treatment as described for patients with systemic mastocytosis. 18567837 2008
CUI: C1136033
Disease: Cutaneous Mastocytosis
Cutaneous Mastocytosis
0.680 GeneticVariation disease UNIPROT A germline mutation in KIT in familial diffuse cutaneous mastocytosis. 15173254 2004
CUI: C1136033
Disease: Cutaneous Mastocytosis
Cutaneous Mastocytosis
0.680 Biomarker disease GENOMICS_ENGLAND Activating and dominant inactivating c-KIT catalytic domain mutations in distinct clinical forms of human mastocytosis. 9990072 1999
CUI: C1136033
Disease: Cutaneous Mastocytosis
Cutaneous Mastocytosis
0.680 GeneticVariation disease UNIPROT Activating and dominant inactivating c-KIT catalytic domain mutations in distinct clinical forms of human mastocytosis. 9990072 1999
CUI: C1136033
Disease: Cutaneous Mastocytosis
Cutaneous Mastocytosis
0.680 Biomarker disease GENOMICS_ENGLAND Dominant negative and loss of function mutations of the c-kit (mast/stem cell growth factor receptor) proto-oncogene in human piebaldism. 1370874 1992
CUI: C1136033
Disease: Cutaneous Mastocytosis
Cutaneous Mastocytosis
0.680 CausalMutation disease CLINVAR
CUI: C1136033
Disease: Cutaneous Mastocytosis
Cutaneous Mastocytosis
0.680 Biomarker disease HPO
CUI: C1136033
Disease: Cutaneous Mastocytosis
Cutaneous Mastocytosis
0.680 Biomarker disease GENOMICS_ENGLAND