Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121434264
rs121434264
Entrez Id: 79577;101929160
Gene Symbol: CDC73;LOC101929160
CDC73;LOC101929160
CUI: C1840402
Disease:
HYPERPARATHYROIDISM 1
0.800 GeneticVariation UNIPROT Clinical, genetic, and histopathologic investigation of CDC73-related familial hyperparathyroidism. 18755853 2008
dbSNP: rs121434264
rs121434264
Entrez Id: 79577;101929160
Gene Symbol: CDC73;LOC101929160
CDC73;LOC101929160
CUI: C1840402
Disease:
HYPERPARATHYROIDISM 1
0.800 GeneticVariation UNIPROT Parafibromin mutations in hereditary hyperparathyroidism syndromes and parathyroid tumours. 16487440 2006
dbSNP: rs121434264
rs121434264
Entrez Id: 79577;101929160
Gene Symbol: CDC73;LOC101929160
CDC73;LOC101929160
CUI: C1840402
Disease:
HYPERPARATHYROIDISM 1
0.800 GeneticVariation UNIPROT The parafibromin tumor suppressor protein is part of a human Paf1 complex. 15632063 2005
dbSNP: rs121434264
rs121434264
Entrez Id: 79577;101929160
Gene Symbol: CDC73;LOC101929160
CDC73;LOC101929160
CUI: C1840402
Disease:
HYPERPARATHYROIDISM 1
0.800 GeneticVariation UNIPROT HRPT2 mutations are associated with malignancy in sporadic parathyroid tumours. 12960210 2003
dbSNP: rs121434264
rs121434264
Entrez Id: 79577;101929160
Gene Symbol: CDC73;LOC101929160
CDC73;LOC101929160
CUI: C1840402
Disease:
HYPERPARATHYROIDISM 1
0.800 GeneticVariation UNIPROT HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome. 12434154 2002
dbSNP: rs121434264
rs121434264
Entrez Id: 79577;101929160
Gene Symbol: CDC73;LOC101929160
CDC73;LOC101929160
CUI: C1840402
Disease:
HYPERPARATHYROIDISM 1
C 0.800 CausalMutation CLINVAR