PTH1R, parathyroid hormone 1 receptor, 5745

N. diseases: 187; N. variants: 16
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121434597
rs121434597
Entrez Id: 5745
Gene Symbol: PTH1R
PTH1R
CUI: C0265295
Disease:
Jansen type metaphyseal chondrodysplasia 		G 0.810 CausalMutation CLINVAR
dbSNP: rs121434598
rs121434598
Entrez Id: 5745
Gene Symbol: PTH1R
PTH1R
CUI: C0265295
Disease:
Jansen type metaphyseal chondrodysplasia 		C 0.800 CausalMutation CLINVAR
dbSNP: rs121434599
rs121434599
Entrez Id: 5745
Gene Symbol: PTH1R
PTH1R
CUI: C1859148
Disease:
Chondrodysplasia, blomstrand type 		T 0.800 CausalMutation CLINVAR
dbSNP: rs121434600
rs121434600
Entrez Id: 5745
Gene Symbol: PTH1R
PTH1R
CUI: C0265295
Disease:
Jansen type metaphyseal chondrodysplasia 		G 0.800 CausalMutation CLINVAR
dbSNP: rs121434600
rs121434600
Entrez Id: 5745
Gene Symbol: PTH1R
PTH1R
CUI: C0265295
Disease:
Jansen type metaphyseal chondrodysplasia 		0.800 GeneticVariation UNIPROT
dbSNP: rs121434602
rs121434602
Entrez Id: 5745
Gene Symbol: PTH1R
PTH1R
CUI: C0265295
Disease:
Jansen type metaphyseal chondrodysplasia 		0.800 GeneticVariation UNIPROT
dbSNP: rs121434602
rs121434602
Entrez Id: 5745
Gene Symbol: PTH1R
PTH1R
CUI: C0265295
Disease:
Jansen type metaphyseal chondrodysplasia 		G 0.800 CausalMutation CLINVAR
dbSNP: rs121434601
rs121434601
Entrez Id: 5745
Gene Symbol: PTH1R
PTH1R
CUI: C0014084
Disease:
Enchondromatosis 		0.720 GeneticVariation UNIPROT
dbSNP: rs121434603
rs121434603
Entrez Id: 5745
Gene Symbol: PTH1R
PTH1R
CUI: C1838779
Disease:
Eiken Skeletal Dysplasia 		T 0.700 CausalMutation CLINVAR
dbSNP: rs121434604
rs121434604
Entrez Id: 5745
Gene Symbol: PTH1R
PTH1R
CUI: C1859148
Disease:
Chondrodysplasia, blomstrand type 		T 0.700 CausalMutation CLINVAR
dbSNP: rs121434605
rs121434605
Entrez Id: 5745
Gene Symbol: PTH1R
PTH1R
CUI: C1852222
Disease:
Failure of Tooth Eruption, Primary 		T 0.700 CausalMutation CLINVAR
dbSNP: rs398122843
rs398122843
Entrez Id: 5745
Gene Symbol: PTH1R
PTH1R
CUI: C1859148
Disease:
Chondrodysplasia, blomstrand type 		A 0.700 CausalMutation CLINVAR
dbSNP: rs769180471
rs769180471
Entrez Id: 5745
Gene Symbol: PTH1R
PTH1R
CUI: C1852222
Disease:
Failure of Tooth Eruption, Primary 		A 0.700 CausalMutation CLINVAR
dbSNP: rs121434597
rs121434597
Entrez Id: 5745
Gene Symbol: PTH1R
PTH1R
CUI: C0265295
Disease:
Jansen type metaphyseal chondrodysplasia 		0.810 GeneticVariation UNIPROT A constitutively active mutant PTH-PTHrP receptor in Jansen-type metaphyseal chondrodysplasia. 7701349 1995
dbSNP: rs121434598
rs121434598
Entrez Id: 5745
Gene Symbol: PTH1R
PTH1R
CUI: C0265295
Disease:
Jansen type metaphyseal chondrodysplasia 		0.800 GeneticVariation UNIPROT A constitutively active mutant PTH-PTHrP receptor in Jansen-type metaphyseal chondrodysplasia. 7701349 1995
dbSNP: rs121434597
rs121434597
Entrez Id: 5745
Gene Symbol: PTH1R
PTH1R
CUI: C0265295
Disease:
Jansen type metaphyseal chondrodysplasia 		0.810 GeneticVariation UNIPROT A form of Jansen's metaphyseal chondrodysplasia with limited metabolic and skeletal abnormalities is caused by a novel activating parathyroid hormone (PTH)/PTH-related peptide receptor mutation. 15240651 2004
dbSNP: rs121434598
rs121434598
Entrez Id: 5745
Gene Symbol: PTH1R
PTH1R
CUI: C0265295
Disease:
Jansen type metaphyseal chondrodysplasia 		0.800 GeneticVariation UNIPROT A form of Jansen's metaphyseal chondrodysplasia with limited metabolic and skeletal abnormalities is caused by a novel activating parathyroid hormone (PTH)/PTH-related peptide receptor mutation. 15240651 2004
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: rs121434597
rs121434597
Entrez Id: 5745
Gene Symbol: PTH1R
PTH1R
CUI: C0265295
Disease:
Jansen type metaphyseal chondrodysplasia 		0.810 GeneticVariation UNIPROT A novel parathyroid hormone (PTH)/PTH-related peptide receptor mutation in Jansen's metaphyseal chondrodysplasia. 10487664 1999
dbSNP: rs121434598
rs121434598
Entrez Id: 5745
Gene Symbol: PTH1R
PTH1R
CUI: C0265295
Disease:
Jansen type metaphyseal chondrodysplasia 		0.800 GeneticVariation UNIPROT A novel parathyroid hormone (PTH)/PTH-related peptide receptor mutation in Jansen's metaphyseal chondrodysplasia. 10487664 1999
dbSNP: rs121434598
rs121434598
Entrez Id: 5745
Gene Symbol: PTH1R
PTH1R
CUI: C0265295
Disease:
Jansen type metaphyseal chondrodysplasia 		0.800 GeneticVariation UNIPROT Characterization of a PTH1R missense mutation responsible for Jansen type metaphyseal chondrodysplasia. 27160269 2017
dbSNP: rs121434597
rs121434597
Entrez Id: 5745
Gene Symbol: PTH1R
PTH1R
CUI: C0265295
Disease:
Jansen type metaphyseal chondrodysplasia 		0.810 GeneticVariation UNIPROT Constitutive activation of the cyclic adenosine 3',5'-monophosphate signaling pathway by parathyroid hormone (PTH)/PTH-related peptide receptors mutated at the two loci for Jansen's metaphyseal chondrodysplasia. 9178745 1997
dbSNP: rs121434598
rs121434598
Entrez Id: 5745
Gene Symbol: PTH1R
PTH1R
CUI: C0265295
Disease:
Jansen type metaphyseal chondrodysplasia 		0.800 GeneticVariation UNIPROT Constitutive activation of the cyclic adenosine 3',5'-monophosphate signaling pathway by parathyroid hormone (PTH)/PTH-related peptide receptors mutated at the two loci for Jansen's metaphyseal chondrodysplasia. 9178745 1997
dbSNP: rs121434597
rs121434597
Entrez Id: 5745
Gene Symbol: PTH1R
PTH1R
CUI: C0265295
Disease:
Jansen type metaphyseal chondrodysplasia 		0.810 GeneticVariation UNIPROT Constitutively activated receptors for parathyroid hormone and parathyroid hormone-related peptide in Jansen's metaphyseal chondrodysplasia. 8703170 1996
dbSNP: rs121434598
rs121434598
Entrez Id: 5745
Gene Symbol: PTH1R
PTH1R
CUI: C0265295
Disease:
Jansen type metaphyseal chondrodysplasia 		0.800 GeneticVariation UNIPROT Constitutively activated receptors for parathyroid hormone and parathyroid hormone-related peptide in Jansen's metaphyseal chondrodysplasia. 8703170 1996