rs121434264
CDC73;LOC101929160
HYPERPARATHYROIDISM 1
0.800
GeneticVariation
UNIPROT
Clinical, genetic, and histopathologic investigation of CDC73-related familial hyperparathyroidism.
18755853
2008
rs121434264
CDC73;LOC101929160
HYPERPARATHYROIDISM 1
0.800
GeneticVariation
UNIPROT
Parafibromin mutations in hereditary hyperparathyroidism syndromes and parathyroid tumours.
16487440
2006
rs121434264
CDC73;LOC101929160
HYPERPARATHYROIDISM 1
0.800
GeneticVariation
UNIPROT
The parafibromin tumor suppressor protein is part of a human Paf1 complex.
15632063
2005
rs121434264
CDC73;LOC101929160
HYPERPARATHYROIDISM 1
0.800
GeneticVariation
UNIPROT
HRPT2 mutations are associated with malignancy in sporadic parathyroid tumours.
12960210
2003
rs121434264
CDC73;LOC101929160
HYPERPARATHYROIDISM 1
0.800
GeneticVariation
UNIPROT
HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome.
12434154
2002
rs121434264
CDC73;LOC101929160
HYPERPARATHYROIDISM 1
C
0.800
CausalMutation
CLINVAR
rs28942098
CDC73;LOC101929160
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
rs28942098
CDC73;LOC101929160
Hyperparathyroidism-Jaw Tumor Syndrome
A
0.710
CausalMutation
CLINVAR
rs200922190
×
Entrez Id:
79577
Gene Symbol:
CDC73
CDC73
Endometriosis
0.700
GeneticVariation
GWASCAT
Genome-wide genetic analyses highlight mitogen-activated protein kinase (MAPK) signaling in the pathogenesis of endometriosis.
28333195
2017
rs760591174
×
Entrez Id:
79577
Gene Symbol:
CDC73
CDC73
Parathyroid Gland Adenocarcinoma
CAG
0.700
CausalMutation
CLINVAR
Hyperparathyroidism-jaw tumor syndrome: Results of operative management.
25444225
2014
rs1553278844
CDC73;MIR1278
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
rs1558276082
CDC73;LOC101929160
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
rs1060500015
CDC73;LOC101929160
HYPERPARATHYROIDISM 1
0.700
GeneticVariation
UNIPROT
Clinical, genetic, and histopathologic investigation of CDC73-related familial hyperparathyroidism.
18755853
2008
rs1558276054
CDC73;LOC101929160
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
rs1060500015
CDC73;LOC101929160
HYPERPARATHYROIDISM 1
0.700
GeneticVariation
UNIPROT
Parafibromin mutations in hereditary hyperparathyroidism syndromes and parathyroid tumours.
16487440
2006
rs1060500015
CDC73;LOC101929160
HYPERPARATHYROIDISM 1
0.700
GeneticVariation
UNIPROT
The parafibromin tumor suppressor protein is part of a human Paf1 complex.
15632063
2005
rs760591174
×
Entrez Id:
79577
Gene Symbol:
CDC73
CDC73
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
rs1060500015
CDC73;LOC101929160
HYPERPARATHYROIDISM 1
0.700
GeneticVariation
UNIPROT
HRPT2 mutations are associated with malignancy in sporadic parathyroid tumours.
12960210
2003
rs1060500015
CDC73;LOC101929160
HYPERPARATHYROIDISM 1
0.700
GeneticVariation
UNIPROT
HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome.
12434154
2002
rs760591174
×
Entrez Id:
79577
Gene Symbol:
CDC73
CDC73
Parathyroid Gland Adenocarcinoma
CAG
0.700
CausalMutation
CLINVAR
HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome.
12434154
2002
rs1057519384
CDC73;LOC101929160
Ossifying fibroma of the jaw
G
0.700
CausalMutation
CLINVAR
rs1057519385
CDC73;LOC101929160
Ossifying fibroma of the jaw
CT
0.700
CausalMutation
CLINVAR
rs1057519419
CDC73;LOC101929160
HYPERPARATHYROIDISM 1
G
0.700
GeneticVariation
CLINVAR
rs1060500009
×
Entrez Id:
79577
Gene Symbol:
CDC73
CDC73
Parathyroid Gland Adenocarcinoma
G
0.700
CausalMutation
CLINVAR
rs1060500012
×
Entrez Id:
79577
Gene Symbol:
CDC73
CDC73
Parathyroid Gland Adenocarcinoma
T
0.700
GeneticVariation
CLINVAR