Source: ORPHANET

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 8893
Gene Symbol: EIF2B5
EIF2B5
eukaryotic translation initiation factor 2B subunit epsilon 0.615 0.769 6.4E-02
CUI: C1847967
Disease: OVARIOLEUKODYSTROPHY
OVARIOLEUKODYSTROPHY
disease 0.810 None 1.000 1 0 2003 2016
Entrez Id: 8890
Gene Symbol: EIF2B4
EIF2B4
eukaryotic translation initiation factor 2B subunit delta 0.659 0.538 0.96
CUI: C1847967
Disease: OVARIOLEUKODYSTROPHY
OVARIOLEUKODYSTROPHY
disease 0.740 None 1.000 1 0 2003 2016
Entrez Id: 8892
Gene Symbol: EIF2B2
EIF2B2
eukaryotic translation initiation factor 2B subunit beta 0.647 0.538 2.1E-10
CUI: C1847967
Disease: OVARIOLEUKODYSTROPHY
OVARIOLEUKODYSTROPHY
disease 0.640 None 1.000 1 0 2003 2008
Entrez Id: 1967
Gene Symbol: EIF2B1
EIF2B1
eukaryotic translation initiation factor 2B subunit alpha 0.663 0.538 7.6E-05
CUI: C1847967
Disease: OVARIOLEUKODYSTROPHY
OVARIOLEUKODYSTROPHY
disease 0.550 None 1.000 1 0 2004 2008
Entrez Id: 8891
Gene Symbol: EIF2B3
EIF2B3
eukaryotic translation initiation factor 2B subunit gamma 0.729 0.346 0.57
CUI: C1847967
Disease: OVARIOLEUKODYSTROPHY
OVARIOLEUKODYSTROPHY
disease 0.500 None 1.000 1 0 2004 2004
Entrez Id: 57505
Gene Symbol: AARS2
AARS2
alanyl-tRNA synthetase 2, mitochondrial 0.644 0.500 5.0E-17
CUI: C1847967
Disease: OVARIOLEUKODYSTROPHY
OVARIOLEUKODYSTROPHY
disease 0.320 None 1.000 1 0 2014 2020