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: C0268556
Disease: Saccharopinuria
Saccharopinuria 		0.600 GermlineCausalMutation ORPHANET Genetic basis of hyperlysinemia. 23570448

2013
Entrez Id: 10157
Gene Symbol: AASS
AASS
CUI: C0268556
Disease: Saccharopinuria
Saccharopinuria 		0.600 GermlineCausalMutation ORPHANET Identification of the alpha-aminoadipic semialdehyde synthase gene, which is defective in familial hyperlysinemia. 10775527

2000