GPHN, gephyrin, 10243

N. diseases: 104; N. variants: 49
Disease: Mental Retardation, X-Linked ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1136249
Disease: Mental Retardation, X-Linked
Mental Retardation, X-Linked 		0.010 GeneticVariation disease BEFREE CB mutations cause X-linked mental retardation due to defective clustering of gephyrin, a postsynaptic protein associated with both glycine and GABA(A) receptors. 21807943 2011