DisGeNET - a database of gene-disease associations

Source: ALL

Disease: Hyperlysinemia, type I ×

Gene: AASS ×

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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:	C0543533
Disease:	Hyperlysinemia, type I

Hyperlysinemia, type I

0.400

Biomarker

GENOMICS_ENGLAND

Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.

27604308

2016

Entrez Id:	10157
Gene Symbol:	AASS

AASS

CUI:	C0543533
Disease:	Hyperlysinemia, type I

Hyperlysinemia, type I

0.400

Biomarker

GENOMICS_ENGLAND

Identification of the alpha-aminoadipic semialdehyde synthase gene, which is defective in familial hyperlysinemia.

10775527

2000

Entrez Id:	10157
Gene Symbol:	AASS

AASS

CUI:	C0543533
Disease:	Hyperlysinemia, type I

Hyperlysinemia, type I

0.400

CausalMutation

CLINVAR