PTH1R, parathyroid hormone 1 receptor, 5745

N. diseases: 187; N. variants: 16
Disease: Chondrodysplasia, blomstrand type ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121434599
rs121434599
Entrez Id: 5745
Gene Symbol: PTH1R
PTH1R
CUI: C1859148
Disease:
Chondrodysplasia, blomstrand type 		0.800 GeneticVariation UNIPROT A homozygous inactivating mutation in the parathyroid hormone/parathyroid hormone-related peptide receptor causing Blomstrand chondrodysplasia. 9745456 1998
dbSNP: rs121434599
rs121434599
Entrez Id: 5745
Gene Symbol: PTH1R
PTH1R
CUI: C1859148
Disease:
Chondrodysplasia, blomstrand type 		T 0.800 CausalMutation CLINVAR