PTH1R, parathyroid hormone 1 receptor, 5745

N. diseases: 187; N. variants: 16
Disease: Dyschondroplasias ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0013366
Disease: Dyschondroplasias
Dyschondroplasias 		0.300 GermlineCausalMutation group ORPHANET PTHR1 mutations associated with Ollier disease result in receptor loss of function. 18559376 2008
CUI: C0013366
Disease: Dyschondroplasias
Dyschondroplasias 		0.300 GermlineCausalMutation group ORPHANET A mutant PTH/PTHrP type I receptor in enchondromatosis. 11850620 2002