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: 18
Gene Symbol: ABAT
ABAT 		4-aminobutyrate aminotransferase 0.628 0.538 6.3E-03
CUI: C0342708
Disease: Gamma aminobutyric acid transaminase deficiency
Gamma aminobutyric acid transaminase deficiency 		disease 0.700 None 1.000 4 0 1998 2019
Entrez Id: 18
Gene Symbol: ABAT
ABAT 		4-aminobutyrate aminotransferase 0.628 0.538 6.3E-03
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.400 moderate 1.000 1 0 2016 2016
Entrez Id: 18
Gene Symbol: ABAT
ABAT 		4-aminobutyrate aminotransferase 0.628 0.538 6.3E-03
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		phenotype 0.300 moderate 1.000 1 0 2016 2016