CDC73, cell division cycle 73, 79577

N. diseases: 144; N. variants: 31
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1060500009
rs1060500009
Entrez Id: 79577
Gene Symbol: CDC73
CDC73
CUI: C0687150
Disease:
Parathyroid Gland Adenocarcinoma 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1060500012
rs1060500012
Entrez Id: 79577
Gene Symbol: CDC73
CDC73
CUI: C0687150
Disease:
Parathyroid Gland Adenocarcinoma 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1060500019
rs1060500019
Entrez Id: 79577
Gene Symbol: CDC73
CDC73
CUI: C0687150
Disease:
Parathyroid Gland Adenocarcinoma 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1553279085
rs1553279085
Entrez Id: 79577
Gene Symbol: CDC73
CDC73
CUI: C0687150
Disease:
Parathyroid Gland Adenocarcinoma 		CA 0.700 CausalMutation CLINVAR
dbSNP: rs1553279088
rs1553279088
Entrez Id: 79577
Gene Symbol: CDC73
CDC73
CUI: C0687150
Disease:
Parathyroid Gland Adenocarcinoma 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1553288362
rs1553288362
Entrez Id: 79577
Gene Symbol: CDC73
CDC73
CUI: C0687150
Disease:
Parathyroid Gland Adenocarcinoma 		T 0.700 CausalMutation CLINVAR
dbSNP: rs200922190
rs200922190
Entrez Id: 79577
Gene Symbol: CDC73
CDC73
CUI: C0014175
Disease:
Endometriosis 		0.700 GeneticVariation GWASCAT Genome-wide genetic analyses highlight mitogen-activated protein kinase (MAPK) signaling in the pathogenesis of endometriosis. 28333195 2017
dbSNP: rs587776559
rs587776559
Entrez Id: 79577
Gene Symbol: CDC73
CDC73
CUI: C1704981
Disease:
Hyperparathyroidism-Jaw Tumor Syndrome 		A 0.700 CausalMutation CLINVAR
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
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 Hyperparathyroidism-jaw tumor syndrome: Results of operative management. 25444225 2014
dbSNP: rs80356649
rs80356649
Entrez Id: 79577
Gene Symbol: CDC73
CDC73
CUI: C1704981
Disease:
Hyperparathyroidism-Jaw Tumor Syndrome 		AAG 0.700 CausalMutation CLINVAR
dbSNP: rs80356649
rs80356649
Entrez Id: 79577
Gene Symbol: CDC73
CDC73
CUI: C0687150
Disease:
Parathyroid Gland Adenocarcinoma 		AAG 0.700 CausalMutation CLINVAR
dbSNP: rs80356649
rs80356649
Entrez Id: 79577
Gene Symbol: CDC73
CDC73
CUI: C1840402
Disease:
HYPERPARATHYROIDISM 1 		AAG 0.700 CausalMutation CLINVAR
dbSNP: rs971586985
rs971586985
Entrez Id: 79577
Gene Symbol: CDC73
CDC73
CUI: C1704981
Disease:
Hyperparathyroidism-Jaw Tumor Syndrome 		0.700 GeneticVariation UNIPROT
dbSNP: rs971586985
rs971586985
Entrez Id: 79577
Gene Symbol: CDC73
CDC73
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
dbSNP: rs971586985
rs971586985
Entrez Id: 79577
Gene Symbol: CDC73
CDC73
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
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 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 		C 0.800 CausalMutation CLINVAR
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 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 		0.800 GeneticVariation UNIPROT Clinical, genetic, and histopathologic investigation of CDC73-related familial hyperparathyroidism. 18755853 2008
dbSNP: rs28942098
rs28942098
Entrez Id: 79577;101929160
Gene Symbol: CDC73;LOC101929160
CDC73;LOC101929160
CUI: C1704981
Disease:
Hyperparathyroidism-Jaw Tumor Syndrome 		0.710 GeneticVariation BEFREE A germline p.M1I mutation has been previously reported in a family with clinical features of HPT-JT. 30452964 2019
dbSNP: rs28942098
rs28942098
Entrez Id: 79577;101929160
Gene Symbol: CDC73;LOC101929160
CDC73;LOC101929160
CUI: C1704981
Disease:
Hyperparathyroidism-Jaw Tumor Syndrome 		A 0.710 CausalMutation CLINVAR