Disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3152204
Disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8 		0.700 GeneticVariation disease CLINVAR Multigene panel sequencing of established and candidate melanoma susceptibility genes in a large cohort of Dutch non-CDKN2A/CDK4 melanoma families. 30414346 2019
CUI: C3152204
Disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8 		0.700 GeneticVariation disease CLINVAR Frequent inactivating germline mutations in DNA repair genes in patients with Ewing sarcoma. 28125078 2017
CUI: C3152204
Disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8 		0.700 Biomarker disease GENOMICS_ENGLAND Biallelic Mutations in MITF Cause Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness. 27889061 2016
CUI: C3152204
Disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8 		0.700 CausalMutation disease CLINVAR Genetic susceptibility to cutaneous melanoma in southern Switzerland: role of CDKN2A, MC1R and MITF. 27473757 2016
CUI: C3152204
Disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8 		0.700 CausalMutation disease CLINVAR Prevalence of MITF p.E318K in Patients With Melanoma Independent of the Presence of CDKN2A Causative Mutations. 26650189 2016
CUI: C3152204
Disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8 		0.700 CausalMutation disease CLINVAR Molecular characterization of melanoma cases in Denmark suspected of genetic predisposition. 25803691 2015
CUI: C3152204
Disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8 		0.700 GeneticVariation disease CLINVAR Prevalence of the E318K and V320I MITF germline mutations in Polish cancer patients and multiorgan cancer risk-a population-based study. 24767713 2014
CUI: C3152204
Disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8 		0.700 GeneticVariation disease CLINVAR MITF E318K's effect on melanoma risk independent of, but modified by, other risk factors. 24406078 2014
CUI: C3152204
Disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8 		0.700 GeneticVariation disease CLINVAR MITF mutations associated with pigment deficiency syndromes and melanoma have different effects on protein function. 23787126 2013
CUI: C3152204
Disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8 		0.700 GeneticVariation disease CLINVAR Prevalence of the E318K MITF germline mutation in Italian melanoma patients: associations with histological subtypes and family cancer history. 23167872 2013
CUI: C3152204
Disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8 		0.700 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: C3152204
Disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8 		0.700 CausalMutation disease CLINVAR MITF mutations associated with pigment deficiency syndromes and melanoma have different effects on protein function. 23787126 2013
CUI: C3152204
Disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8 		0.700 SusceptibilityMutation disease ORPHANET [MITF: a genetic key to melanoma and renal cell carcinoma?]. 22480646 2012
CUI: C3152204
Disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8 		0.700 GeneticVariation disease UNIPROT A novel recurrent mutation in MITF predisposes to familial and sporadic melanoma. 22080950 2011
CUI: C3152204
Disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8 		0.700 CausalMutation disease CLINVAR A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma. 22012259 2011
CUI: C3152204
Disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8 		0.700 CausalMutation disease CLINVAR A novel recurrent mutation in MITF predisposes to familial and sporadic melanoma. 22080950 2011
CUI: C3152204
Disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8 		0.700 GeneticVariation disease CLINVAR A novel recurrent mutation in MITF predisposes to familial and sporadic melanoma. 22080950 2011
CUI: C3152204
Disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8 		0.700 SusceptibilityMutation disease ORPHANET A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma. 22012259 2011
CUI: C3152204
Disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8 		0.700 GeneticVariation disease CLINVAR A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma. 22012259 2011
CUI: C3152204
Disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8 		0.700 Biomarker disease CTD_human A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma. 22012259 2011
CUI: C3152204
Disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8 		0.700 GeneticVariation disease UNIPROT A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma. 22012259 2011
CUI: C3152204
Disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C3152204
Disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8 		0.700 SusceptibilityMutation disease CLINVAR