Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6506
Gene Symbol: SLC1A2
SLC1A2
CUI: C4310717
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 41
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 41 		0.700 Biomarker GENOMICS_ENGLAND Biallelic Mutations in SLC1A2; an Additional Mode of Inheritance for SLC1A2-Related Epilepsy. 28915517

2018
Entrez Id: 6506
Gene Symbol: SLC1A2
SLC1A2
CUI: C4310717
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 41
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 41 		0.700 Biomarker GENOMICS_ENGLAND De Novo Mutations in YWHAG Cause Early-Onset Epilepsy. 28777935

2017
Entrez Id: 6506
Gene Symbol: SLC1A2
SLC1A2
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.410 Biomarker GENOMICS_ENGLAND De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies. 27476654

2016
Entrez Id: 6506
Gene Symbol: SLC1A2
SLC1A2
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.400 Biomarker GENOMICS_ENGLAND De Novo Mutations in YWHAG Cause Early-Onset Epilepsy. 28777935

2017