GPT2, glutamic--pyruvic transaminase 2, 84706

N. diseases: 63; N. variants: 4
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 49 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4225388
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 49
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 49 		0.700 GermlineCausalMutation disease ORPHANET Mutations in mitochondrial enzyme GPT2 cause metabolic dysfunction and neurological disease with developmental and progressive features. 27601654 2016
CUI: C4225388
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 49
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 49 		0.700 GeneticVariation disease UNIPROT Loss of function mutation in glutamic pyruvate transaminase 2 (GPT2) causes developmental encephalopathy. 25758935 2015
CUI: C4225388
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 49
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 49 		0.700 GermlineCausalMutation disease ORPHANET Loss of function mutation in glutamic pyruvate transaminase 2 (GPT2) causes developmental encephalopathy. 25758935 2015
CUI: C4225388
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 49
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 49 		0.700 Biomarker disease CTD_human
CUI: C4225388
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 49
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 49 		0.700 CausalMutation disease CLINVAR