rs149617956, MITF

N. diseases: 32
Disease: Tietz syndrome ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Tietz syndrome
CUI: C0391816
Disease: Tietz syndrome
0.700 CausalMutation CLINVAR Genetic susceptibility to cutaneous melanoma in southern Switzerland: role of CDKN2A, MC1R and MITF. 27473757 2016
Tietz syndrome
CUI: C0391816
Disease: Tietz syndrome
0.700 CausalMutation CLINVAR MITF mutations associated with pigment deficiency syndromes and melanoma have different effects on protein function. 23787126 2013
Tietz syndrome
CUI: C0391816
Disease: Tietz syndrome
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
Tietz syndrome
CUI: C0391816
Disease: Tietz syndrome
0.700 CausalMutation CLINVAR A novel recurrent mutation in MITF predisposes to familial and sporadic melanoma. 22080950 2011
Tietz syndrome
CUI: C0391816
Disease: Tietz syndrome
0.700 CausalMutation CLINVAR A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma. 22012259 2011