CDC73, cell division cycle 73, 79577

N. diseases: 144; N. variants: 31
Disease: Neoplasms ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28942098
rs28942098
Entrez Id: 79577;101929160
Gene Symbol: CDC73;LOC101929160
CDC73;LOC101929160
CUI: C0027651
Disease:
Neoplasms 		0.010 GeneticVariation BEFREE A germline start codon mutation (p.M1I) in CDC73 was identified in all 3 family members who presented with MEST and 2 tumors from 1 patient demonstrated somatic copy-neutral loss of heterozygosity. 30452964 2019
dbSNP: rs121434264
rs121434264
Entrez Id: 79577;101929160
Gene Symbol: CDC73;LOC101929160
CDC73;LOC101929160
CUI: C0027651
Disease:
Neoplasms 		0.010 GeneticVariation BEFREE PGP9.5 was positive in a tumor with the HRPT2 mutation L64P that expressed parafibromin. 19017757 2009
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