DisGeNET - a database of gene-disease associations

Source: ALL

Disease: Saccharopine dehydrogenase deficiency ×

Gene: AASS ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Gene

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	10157
Gene Symbol:	AASS

AASS

CUI:	C2936921
Disease:	Saccharopine dehydrogenase deficiency

Saccharopine dehydrogenase deficiency

0.500

GermlineCausalMutation

ORPHANET

Genetic basis of hyperlysinemia.

23570448

2013

Entrez Id:	10157
Gene Symbol:	AASS

AASS

CUI:	C2936921
Disease:	Saccharopine dehydrogenase deficiency

Saccharopine dehydrogenase deficiency

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

CUI:	C2936921
Disease:	Saccharopine dehydrogenase deficiency

Saccharopine dehydrogenase deficiency

0.500

Biomarker

CTD_human