rs149617956, MITF

N. diseases: 32
Disease: WAARDENBURG SYNDROME, TYPE IIA ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
WAARDENBURG SYNDROME, TYPE IIA
CUI: C1860339
Disease: WAARDENBURG SYNDROME, TYPE IIA
0.700 CausalMutation CLINVAR Genetic susceptibility to cutaneous melanoma in southern Switzerland: role of CDKN2A, MC1R and MITF. 27473757 2016
WAARDENBURG SYNDROME, TYPE IIA
CUI: C1860339
Disease: WAARDENBURG SYNDROME, TYPE IIA
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
WAARDENBURG SYNDROME, TYPE IIA
CUI: C1860339
Disease: WAARDENBURG SYNDROME, TYPE IIA
0.700 CausalMutation CLINVAR MITF mutations associated with pigment deficiency syndromes and melanoma have different effects on protein function. 23787126 2013
WAARDENBURG SYNDROME, TYPE IIA
CUI: C1860339
Disease: WAARDENBURG SYNDROME, TYPE IIA
0.700 CausalMutation CLINVAR A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma. 22012259 2011
WAARDENBURG SYNDROME, TYPE IIA
CUI: C1860339
Disease: WAARDENBURG SYNDROME, TYPE IIA
0.700 CausalMutation CLINVAR A novel recurrent mutation in MITF predisposes to familial and sporadic melanoma. 22080950 2011