Source: GENOMICS_ENGLAND

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: 7965
Gene Symbol: AIMP2
AIMP2 		aminoacyl tRNA synthetase complex interacting multifunctional protein 2 0.393 0.923 8.0E-03
CUI: C4693912
Disease: LEUKODYSTROPHY, HYPOMYELINATING, 17
LEUKODYSTROPHY, HYPOMYELINATING, 17 		disease 0.400 moderate 1.000 2 0 2016 2018
Entrez Id: 7965
Gene Symbol: AIMP2
AIMP2 		aminoacyl tRNA synthetase complex interacting multifunctional protein 2 0.393 0.923 8.0E-03
CUI: C0037769
Disease: West Syndrome
West Syndrome 		disease 0.300 moderate 1.000 1 0 2016 2016
Entrez Id: 7965
Gene Symbol: AIMP2
AIMP2 		aminoacyl tRNA synthetase complex interacting multifunctional protein 2 0.393 0.923 8.0E-03
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		disease 0.300 moderate 1.000 1 0 2016 2016