Source: ORPHANET

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: 10157
Gene Symbol: AASS
AASS 		aminoadipate-semialdehyde synthase 0.695 0.577 2.3E-12
CUI: C0268553
Disease: Hyperlysinemias
Hyperlysinemias 		disease 0.720 moderate 1.000 3 0 1968 2016
Entrez Id: 10157
Gene Symbol: AASS
AASS 		aminoadipate-semialdehyde synthase 0.695 0.577 2.3E-12
CUI: C0268556
Disease: Saccharopinuria
Saccharopinuria 		disease 0.600 moderate 1.000 2 0 2000 2013
Entrez Id: 10157
Gene Symbol: AASS
AASS 		aminoadipate-semialdehyde synthase 0.695 0.577 2.3E-12
CUI: C0936256
Disease: Lysine Alpha-Ketoglutarate Reductase Deficiency Disease
Lysine Alpha-Ketoglutarate Reductase Deficiency Disease 		disease 0.500 None 1.000 3 0 2000 2013
Entrez Id: 10157
Gene Symbol: AASS
AASS 		aminoadipate-semialdehyde synthase 0.695 0.577 2.3E-12
CUI: C2936921
Disease: Saccharopine dehydrogenase deficiency
Saccharopine dehydrogenase deficiency 		disease 0.500 None 1.000 2 0 2000 2013