GPT2, glutamic--pyruvic transaminase 2, 84706

N. diseases: 63; N. variants: 4
Disease: Progressive spasticity ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1859520
Disease: Progressive spasticity
Progressive spasticity 		0.300 Biomarker phenotype GENOMICS_ENGLAND Loss of function mutation in glutamic pyruvate transaminase 2 (GPT2) causes developmental encephalopathy. 25758935 2015