Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 10157
Gene Symbol: AASS
AASS
Lysine Alpha-Ketoglutarate Reductase Deficiency Disease
0.500 GermlineCausalMutation ORPHANET Clinical, biochemical, molecular and therapeutic aspects of 2 new cases of 2-aminoadipic semialdehyde synthase deficiency. 23890588

2013

Entrez Id: 10157
Gene Symbol: AASS
AASS
Lysine Alpha-Ketoglutarate Reductase Deficiency Disease
0.500 GermlineCausalMutation ORPHANET Genetic basis of hyperlysinemia. 23570448

2013

Entrez Id: 10157
Gene Symbol: AASS
AASS
Lysine Alpha-Ketoglutarate Reductase Deficiency Disease
0.500 GermlineCausalMutation ORPHANET Identification of the alpha-aminoadipic semialdehyde synthase gene, which is defective in familial hyperlysinemia. 10775527

2000

Entrez Id: 10157
Gene Symbol: AASS
AASS
Lysine Alpha-Ketoglutarate Reductase Deficiency Disease
0.500 Biomarker CTD_human