GTPBP2, GTP binding protein 2, 54676

N. diseases: 44; N. variants: 9
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0027765
Disease: nervous system disorder
nervous system disorder
0.010 Biomarker group BEFREE Further patients will have to be identified and characterised in order to fully define the core features of GTPBP2-associated neurological disorder, but future approaches to molecular diagnosis of neurodevelopmental disorders should implement GTPBP2. 29449720 2018