Source: ORPHANET

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 10157
Gene Symbol: AASS
AASS
CUI: C0268553
Disease: Hyperlysinemias
Hyperlysinemias 		0.720 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
CUI: C0268553
Disease: Hyperlysinemias
Hyperlysinemias 		0.720 GermlineCausalMutation ORPHANET Hyperlysinemia is caused by mutations in AASS. 23570448

2013
Entrez Id: 10157
Gene Symbol: AASS
AASS
CUI: C0268553
Disease: Hyperlysinemias
Hyperlysinemias 		0.720 GermlineCausalMutation ORPHANET On the basis of these and other results, we propose that AASS catalyzes the first two steps of the major lysine-degradation pathway in human cells and that inactivating mutations in the AASS gene are a cause of hyperlysinemia. 10775527

2000