Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Hereditary Melanoma
CUI: C1512419
Disease: Hereditary Melanoma
0.700 CausalMutation CLINVAR Uptake of genetic counseling, genetic testing and surveillance in hereditary malignant melanoma (CDKN2A) in Norway. 27804060 2017
Hereditary Melanoma
CUI: C1512419
Disease: Hereditary Melanoma
0.700 CausalMutation CLINVAR Population-based prevalence of CDKN2A and CDK4 mutations in patients with multiple primary melanomas. 18023021 2008
Hereditary Melanoma
CUI: C1512419
Disease: Hereditary Melanoma
0.700 CausalMutation CLINVAR Features associated with germline CDKN2A mutations: a GenoMEL study of melanoma-prone families from three continents. 16905682 2007
Hereditary Melanoma
CUI: C1512419
Disease: Hereditary Melanoma
0.700 CausalMutation CLINVAR Impact of E27X, a novel CDKN2A germ line mutation, on p16 and p14ARF expression in Italian melanoma families displaying pancreatic cancer and neuroblastoma. 16893909 2006
Hereditary Melanoma
CUI: C1512419
Disease: Hereditary Melanoma
0.700 CausalMutation CLINVAR High-risk melanoma susceptibility genes and pancreatic cancer, neural system tumors, and uveal melanoma across GenoMEL. 17047042 2006
Hereditary Melanoma
CUI: C1512419
Disease: Hereditary Melanoma
0.700 CausalMutation CLINVAR Familial melanoma, pancreatic cancer and germline CDKN2A mutations. 15146471 2004