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: 2752
Gene Symbol: GLUL
GLUL
glutamate-ammonia ligase 0.513 0.731 1.00
CUI: C1864910
Disease: Glutamine deficiency, congenital
Glutamine deficiency, congenital
disease 0.720 limited 1.000 2 0 1966 2019
Entrez Id: 2752
Gene Symbol: GLUL
GLUL
glutamate-ammonia ligase 0.513 0.731 1.00
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.430 strong 1.000 1 0 2001 2019