Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Hereditary Malignant Neoplasm
CUI: C1333600
Disease: Hereditary Malignant Neoplasm
0.010 GeneticVariation BEFREE Two co-existing germline mutations P53 V157D and PMS2 R20Q promote tumorigenesis in a familial cancer syndrome. 23981578 2014