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: 1968
Gene Symbol: EIF2S3
EIF2S3 		eukaryotic translation initiation factor 2 subunit gamma 0.604 0.731 0.96
CUI: C1846278
Disease: MENTAL RETARDATION, EPILEPTIC SEIZURES, HYPOGONADISM AND HYPOGENITALISM, MICROCEPHALY, AND OBESITY (disorder)
MENTAL RETARDATION, EPILEPTIC SEIZURES, HYPOGONADISM AND HYPOGENITALISM, MICROCEPHALY, AND OBESITY (disorder) 		disease 0.750 strong 1.000 2 0 1998 2020
Entrez Id: 1968
Gene Symbol: EIF2S3
EIF2S3 		eukaryotic translation initiation factor 2 subunit gamma 0.604 0.731 0.96
CUI: C0025958
Disease: Microcephaly
Microcephaly 		disease 0.430 strong 1.000 1 0 2012 2019
Entrez Id: 1968
Gene Symbol: EIF2S3
EIF2S3 		eukaryotic translation initiation factor 2 subunit gamma 0.604 0.731 0.96
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group 0.430 strong 1.000 1 0 2012 2017
Entrez Id: 1968
Gene Symbol: EIF2S3
EIF2S3 		eukaryotic translation initiation factor 2 subunit gamma 0.604 0.731 0.96
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		group 0.410 strong 1.000 1 0 2002 2017
Entrez Id: 1968
Gene Symbol: EIF2S3
EIF2S3 		eukaryotic translation initiation factor 2 subunit gamma 0.604 0.731 0.96
CUI: C0020619
Disease: Hypogonadism
Hypogonadism 		disease 0.400 strong 1.000 1 0 2017 2017
Entrez Id: 1968
Gene Symbol: EIF2S3
EIF2S3 		eukaryotic translation initiation factor 2 subunit gamma 0.604 0.731 0.96
CUI: C0011847
Disease: Diabetes
Diabetes 		disease 0.310 strong 1.000 1 0 2002 2017
Entrez Id: 1968
Gene Symbol: EIF2S3
EIF2S3 		eukaryotic translation initiation factor 2 subunit gamma 0.604 0.731 0.96
CUI: C0014544
Disease: Epilepsy
Epilepsy 		disease 0.310 strong 1.000 1 0 2016 2017
Entrez Id: 1968
Gene Symbol: EIF2S3
EIF2S3 		eukaryotic translation initiation factor 2 subunit gamma 0.604 0.731 0.96
CUI: C0311277
Disease: Obesity, Abdominal
Obesity, Abdominal 		phenotype 0.300 strong 1.000 1 0 2017 2017
Entrez Id: 1968
Gene Symbol: EIF2S3
EIF2S3 		eukaryotic translation initiation factor 2 subunit gamma 0.604 0.731 0.96
CUI: C1855333
Disease: External genital hypoplasia
External genital hypoplasia 		phenotype 0.300 strong 1.000 1 0 2017 2017