rs149617956, MITF

N. diseases: 32
Disease: Narrow face ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Narrow face
CUI: C1837463
Disease: Narrow face
0.700 CausalMutation CLINVAR Prevalence of MITF p.E318K in Patients With Melanoma Independent of the Presence of CDKN2A Causative Mutations. 26650189 2016
Narrow face
CUI: C1837463
Disease: Narrow face
0.700 CausalMutation CLINVAR Molecular characterization of melanoma cases in Denmark suspected of genetic predisposition. 25803691 2015
Narrow face
CUI: C1837463
Disease: Narrow face
0.700 CausalMutation CLINVAR Prevalence of the E318K MITF germline mutation in Italian melanoma patients: associations with histological subtypes and family cancer history. 23167872 2013
Narrow face
CUI: C1837463
Disease: Narrow face
0.700 CausalMutation CLINVAR A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma. 22012259 2011