DRD2, dopamine receptor D2, 1813

N. diseases: 437; N. variants: 42
Disease: Oculoskeletal dysplasia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3697376
Disease: Oculoskeletal dysplasia
Oculoskeletal dysplasia 		0.010 GeneticVariation disease BEFREE Autosomal recessive OSD caused by COL9A3 and COL9A2 mutations have previously been identified in the Labrador Retriever (dwarfism with retinal dysplasia 1-drd1) and Samoyed dog (dwarfism with retinal dysplasia 2-drd2) respectively; both of those mutations were excluded in all affected NID. 31415586 2019