GDI1, GDP dissociation inhibitor 1, 2664

N. diseases: 102; N. variants: 8
Disease: MENTAL RETARDATION, X-LINKED 41 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3887939
Disease: MENTAL RETARDATION, X-LINKED 41
MENTAL RETARDATION, X-LINKED 41 		0.900 Biomarker disease MGD Cognitive impairment in Gdi1-deficient mice is associated with altered synaptic vesicle pools and short-term synaptic plasticity, and can be corrected by appropriate learning training. 18829665 2009
CUI: C3887939
Disease: MENTAL RETARDATION, X-LINKED 41
MENTAL RETARDATION, X-LINKED 41 		0.900 GeneticVariation disease UNIPROT Mutations in GDI1 are responsible for X-linked non-specific mental retardation. 9620768 1998
CUI: C3887939
Disease: MENTAL RETARDATION, X-LINKED 41
MENTAL RETARDATION, X-LINKED 41 		0.900 GeneticVariation disease UNIPROT Non-specific X-linked semidominant mental retardation by mutations in a Rab GDP-dissociation inhibitor. 9668174 1998
CUI: C3887939
Disease: MENTAL RETARDATION, X-LINKED 41
MENTAL RETARDATION, X-LINKED 41 		0.900 Biomarker disease GENOMICS_ENGLAND
CUI: C3887939
Disease: MENTAL RETARDATION, X-LINKED 41
MENTAL RETARDATION, X-LINKED 41 		0.900 CausalMutation disease CLINVAR
CUI: C3887939
Disease: MENTAL RETARDATION, X-LINKED 41
MENTAL RETARDATION, X-LINKED 41 		0.900 Biomarker disease CTD_human