PTH2R, parathyroid hormone 2 receptor, 5746

N. diseases: 15; N. variants: 4
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1314691
Disease: Age at menarche
Age at menarche 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0038663
Disease: Suicide attempt
Suicide attempt 		0.100 GeneticVariation phenotype GWASCAT Genetics of suicide attempts in individuals with and without mental disorders: a population-based genome-wide association study. 30116032 2018
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis 		0.100 GeneticVariation disease GWASCAT The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease. 30019117 2018
CUI: C0525045
Disease: Mood Disorders
Mood Disorders 		0.100 GeneticVariation group GWASCAT Genetics of suicide attempts in individuals with and without mental disorders: a population-based genome-wide association study. 30116032 2018
CUI: C1837461
Disease: SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		0.100 GeneticVariation disease GWASCAT The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease. 30019117 2018
CUI: C0025322
Disease: Premature Menopause
Premature Menopause 		0.100 GeneticVariation disease CLINVAR
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0.100 GeneticVariation disease CLINVAR
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		0.100 GeneticVariation phenotype CLINVAR
CUI: C0036572
Disease: Seizures
Seizures 		0.100 GeneticVariation phenotype CLINVAR
CUI: C4023691
Disease: Abnormality of pain sensation
Abnormality of pain sensation 		0.100 GeneticVariation phenotype CLINVAR
CUI: C0020437
Disease: Hypercalcemia
Hypercalcemia 		0.010 AlteredExpression disease BEFREE Those psychiatric complications are currently attributed to hypercalcemia with very little evidence; however, with the discovery of the parathyroid hormone 2 receptor (PTH2R) in the brain which can be activated by PTH, PTH2R might indicate a direct effect of PTH. 31423747 2019
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		0.010 GeneticVariation disease BEFREE Breakpoint mapping by whole genome sequencing identifies PTH2R gene disruption in a patient with midline craniosynostosis and a de novo balanced chromosomal rearrangement. 26044810 2015
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		0.010 GeneticVariation disease BEFREE Candidate gene analysis suggested a possible association of a PTHR2 variant with generalized radiographic OA; it is, however, unlikely the major disease gene for the observed linkage to the FOA phenotype. 16912703 2006
CUI: C0409952
Disease: Idiopathic osteoarthritis
Idiopathic osteoarthritis 		0.010 GeneticVariation disease BEFREE Candidate gene analysis suggested a possible association of a PTHR2 variant with generalized radiographic OA; it is, however, unlikely the major disease gene for the observed linkage to the FOA phenotype. 16912703 2006
CUI: C1384584
Disease: Generalized osteoarthritis
Generalized osteoarthritis 		0.010 GeneticVariation disease BEFREE Candidate gene analysis suggested a possible association of a PTHR2 variant with generalized radiographic OA; it is, however, unlikely the major disease gene for the observed linkage to the FOA phenotype. 16912703 2006