Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Parathyroid Neoplasms
CUI: C0030521
Disease: Parathyroid Neoplasms
0.010 GeneticVariation BEFREE The Asp379Asn mutation is likely to disrupt interaction with the human homologue of the yeast Paf1 complex, and the demonstration of combined germline and somatic HRPT2 mutations in a parathyroid tumour provide further evidence for the tumour suppressor role of the HRPT2 gene. 16487440 2006
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.010 GeneticVariation BEFREE The Asp379Asn mutation is likely to disrupt interaction with the human homologue of the yeast Paf1 complex, and the demonstration of combined germline and somatic HRPT2 mutations in a parathyroid tumour provide further evidence for the tumour suppressor role of the HRPT2 gene. 16487440 2006