P2RY8, P2Y receptor family member 8, 286530

N. diseases: 24; N. variants: 0
Disease: Mental Retardation ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		0.010 Biomarker disease BEFREE Because the haploinsufficiency of P2RY8 in carrier mothers does not have a phenotypic consequence, we propose that the severe MR of the affected males in this family is due to the absence of the KIAA2022 gene product. 15466006 2004