PTH1R, parathyroid hormone 1 receptor, 5745

N. diseases: 187; N. variants: 16
Disease: Exanthema ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0015230
Disease: Exanthema
Exanthema 		0.050 GeneticVariation phenotype BEFREE A novel nonsense PTH1R variant shows incomplete penetrance of primary failure of eruption: a case report. 31730001 2019
CUI: C0015230
Disease: Exanthema
Exanthema 		0.050 GeneticVariation phenotype BEFREE Interestingly, mutations in PTH1R have been linked to defects in the post-emergent phase of tooth eruption in humans. 28239357 2017
CUI: C0015230
Disease: Exanthema
Exanthema 		0.050 GeneticVariation phenotype BEFREE To the best of our knowledge, this is the first report of primary failure of eruption caused by a homozygous mutation in PTH1R. 27019138 2016
CUI: C0015230
Disease: Exanthema
Exanthema 		0.050 GeneticVariation phenotype BEFREE Novel mutations in PTH1R associated with primary failure of eruption and osteoarthritis. 24300310 2014
CUI: C0015230
Disease: Exanthema
Exanthema 		0.050 GeneticVariation phenotype BEFREE A PTH1R mutation is strongly associated with failure of orthodontically assisted eruption or tooth movement and should therefore alert clinicians to treat PFE and ankylosed teeth with similar caution-ie, avoid orthodontic treatment with a continuous archwire. 20152661 2010