GPT2, glutamic--pyruvic transaminase 2, 84706

N. diseases: 63; N. variants: 4
Disease: Encephalopathies ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		0.120 GeneticVariation group BEFREE GPT2 mutations cause developmental encephalopathy with microcephaly and features of complicated hereditary spastic paraplegia. 29882329 2018
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		0.120 GeneticVariation group BEFREE After extensive uninformative genetic and metabolic testing, whole exome sequencing identified a homozygous novel variant in glutamic pyruvate transaminase 2 (GPT2) or alanine transaminase 2 (ALT2), c.459 C > G p.Ser153Arg that segregated with developmental encephalopathy in the family. 25758935 2015
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		0.120 Biomarker group HPO