Disease: Tietz syndrome ×
Source: CLINVAR ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0391816
Disease: Tietz syndrome
Tietz syndrome 		0.940 CausalMutation disease CLINVAR Genetic susceptibility to cutaneous melanoma in southern Switzerland: role of CDKN2A, MC1R and MITF. 27473757 2016
CUI: C0391816
Disease: Tietz syndrome
Tietz syndrome 		0.940 CausalMutation disease CLINVAR MITF mutations associated with pigment deficiency syndromes and melanoma have different effects on protein function. 23787126 2013
CUI: C0391816
Disease: Tietz syndrome
Tietz syndrome 		0.940 CausalMutation disease CLINVAR Prevalence of the E318K MITF germline mutation in Italian melanoma patients: associations with histological subtypes and family cancer history. 23167872 2013
CUI: C0391816
Disease: Tietz syndrome
Tietz syndrome 		0.940 CausalMutation disease CLINVAR A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma. 22012259 2011
CUI: C0391816
Disease: Tietz syndrome
Tietz syndrome 		0.940 CausalMutation disease CLINVAR A novel recurrent mutation in MITF predisposes to familial and sporadic melanoma. 22080950 2011
CUI: C0391816
Disease: Tietz syndrome
Tietz syndrome 		0.940 GeneticVariation disease CLINVAR