GPT2, glutamic--pyruvic transaminase 2, 84706

N. diseases: 63; N. variants: 4
Disease: Intellectual Disability ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.420 GeneticVariation group BEFREE We here describe novel compound heterozygous missense variants, NM_133443:c.[400C>T] and NM_133443:[1435G>A], in the glutamic-pyruvic transaminase 2 (GPT2) gene in a large consanguineous family with two affected siblings diagnosed with microcephaly intellectual disability and developmental delay (IDD). 29226631 2018
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.420 Biomarker group GENOMICS_ENGLAND We suggest that recessively inherited loss of function GPT2 mutations are a novel cause of intellectual disability. 25758935 2015
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.420 GeneticVariation group BEFREE We suggest that recessively inherited loss of function GPT2 mutations are a novel cause of intellectual disability. 25758935 2015
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.420 Biomarker group HPO