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: 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
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
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: 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: rs1553278844
rs1553278844
Entrez Id: 79577;100302163
Gene Symbol: CDC73;MIR1278
CDC73;MIR1278
CUI: C0687150
Disease:
Parathyroid Gland Adenocarcinoma
T 0.700 CausalMutation CLINVAR Frequent large germline HRPT2 deletions in a French National cohort of patients with primary hyperparathyroidism. 23293331 2013
dbSNP: rs1558276082
rs1558276082
Entrez Id: 79577;101929160
Gene Symbol: CDC73;LOC101929160
CDC73;LOC101929160
CUI: C0687150
Disease:
Parathyroid Gland Adenocarcinoma
CGTGCTTAGCGTCCTGCGACA 0.700 CausalMutation CLINVAR Cell division cycle protein 73 homolog (CDC73) mutations in the hyperparathyroidism-jaw tumor syndrome (HPT-JT) and parathyroid tumors. 20052758 2010
dbSNP: rs1060500015
rs1060500015
Entrez Id: 79577;101929160
Gene Symbol: CDC73;LOC101929160
CDC73;LOC101929160
CUI: C1840402
Disease:
HYPERPARATHYROIDISM 1
0.700 GeneticVariation UNIPROT Clinical, genetic, and histopathologic investigation of CDC73-related familial hyperparathyroidism. 18755853 2008
dbSNP: rs1558276054
rs1558276054
Entrez Id: 79577;101929160
Gene Symbol: CDC73;LOC101929160
CDC73;LOC101929160
CUI: C0687150
Disease:
Parathyroid Gland Adenocarcinoma
G 0.700 GeneticVariation CLINVAR Nuclear localization of the parafibromin tumor suppressor protein implicated in the hyperparathyroidism-jaw tumor syndrome enhances its proapoptotic function. 17314275 2007
dbSNP: rs1060500015
rs1060500015
Entrez Id: 79577;101929160
Gene Symbol: CDC73;LOC101929160
CDC73;LOC101929160
CUI: C1840402
Disease:
HYPERPARATHYROIDISM 1
0.700 GeneticVariation UNIPROT Parafibromin mutations in hereditary hyperparathyroidism syndromes and parathyroid tumours. 16487440 2006
dbSNP: rs1060500015
rs1060500015
Entrez Id: 79577;101929160
Gene Symbol: CDC73;LOC101929160
CDC73;LOC101929160
CUI: C1840402
Disease:
HYPERPARATHYROIDISM 1
0.700 GeneticVariation UNIPROT The parafibromin tumor suppressor protein is part of a human Paf1 complex. 15632063 2005
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: rs1060500015
rs1060500015
Entrez Id: 79577;101929160
Gene Symbol: CDC73;LOC101929160
CDC73;LOC101929160
CUI: C1840402
Disease:
HYPERPARATHYROIDISM 1
0.700 GeneticVariation UNIPROT HRPT2 mutations are associated with malignancy in sporadic parathyroid tumours. 12960210 2003
dbSNP: rs1060500015
rs1060500015
Entrez Id: 79577;101929160
Gene Symbol: CDC73;LOC101929160
CDC73;LOC101929160
CUI: C1840402
Disease:
HYPERPARATHYROIDISM 1
0.700 GeneticVariation UNIPROT 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 HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome. 12434154 2002
dbSNP: rs1057519384
rs1057519384
Entrez Id: 79577;101929160
Gene Symbol: CDC73;LOC101929160
CDC73;LOC101929160
CUI: C4072940
Disease:
Ossifying fibroma of the jaw
G 0.700 CausalMutation CLINVAR
dbSNP: rs1057519385
rs1057519385
Entrez Id: 79577;101929160
Gene Symbol: CDC73;LOC101929160
CDC73;LOC101929160
CUI: C4072940
Disease:
Ossifying fibroma of the jaw
CT 0.700 CausalMutation CLINVAR
dbSNP: rs1057519419
rs1057519419
Entrez Id: 79577;101929160
Gene Symbol: CDC73;LOC101929160
CDC73;LOC101929160
CUI: C1840402
Disease:
HYPERPARATHYROIDISM 1
G 0.700 GeneticVariation CLINVAR
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