PTH, parathyroid hormone, 5741

N. diseases: 528; N. variants: 10
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs756406117
rs756406117
Entrez Id: 5741
Gene Symbol: PTH
PTH
CUI: C0687150
Disease:
Parathyroid Gland Adenocarcinoma
0.010 GeneticVariation BEFREE This is the first case documenting a germline 70 G>T HRPT2/CDC73 gene mutation in a pediatric parathyroid carcinoma. 27544721 2016