Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs760591174
rs760591174
Entrez Id: 79577
Gene Symbol: CDC73
CDC73
CUI: C0687150
Disease:
Parathyroid Gland Adenocarcinoma
CAG 0.700 CausalMutation CLINVAR Hyperparathyroidism-jaw tumor syndrome: Results of operative management. 25444225 2014
dbSNP: rs760591174
rs760591174
Entrez Id: 79577
Gene Symbol: CDC73
CDC73
CUI: C0687150
Disease:
Parathyroid Gland Adenocarcinoma
CAG 0.700 CausalMutation CLINVAR Familial isolated hyperparathyroidism is rarely caused by germline mutation in HRPT2, the gene for the hyperparathyroidism-jaw tumor syndrome. 14715834 2004
dbSNP: rs760591174
rs760591174
Entrez Id: 79577
Gene Symbol: CDC73
CDC73
CUI: C0687150
Disease:
Parathyroid Gland Adenocarcinoma
CAG 0.700 CausalMutation CLINVAR HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome. 12434154 2002