GPT2, glutamic--pyruvic transaminase 2, 84706

N. diseases: 63; N. variants: 4
Disease: Microcephaly ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.420 GeneticVariation disease BEFREE GPT2 mutations cause developmental encephalopathy with microcephaly and features of complicated hereditary spastic paraplegia. 29882329 2018
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.420 GeneticVariation disease BEFREE Novel compound heterozygous mutations in GPT2 linked to microcephaly, and intellectual developmental disability with or without spastic paraplegia. 29226631 2018
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.420 Biomarker disease GENOMICS_ENGLAND Loss of function mutation in glutamic pyruvate transaminase 2 (GPT2) causes developmental encephalopathy. 25758935 2015
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.420 Biomarker disease HPO