DisGeNET - a database of gene-disease associations

Source: HPO

Disease: Histidinuria renal tubular defect ×

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

Gene Full Name

DSI _g

DPI _g

pLI

Disease

Type

Score _gda

EL_gda

EI _gda

N.PMIDs

N.SNPs _gda

First Ref.

LastRef.

Entrez Id:	10157
Gene Symbol:	AASS

AASS

aminoadipate-semialdehyde synthase

0.695

0.577

2.3E-12

CUI:	C0268642
Disease:	Histidinuria renal tubular defect

Histidinuria renal tubular defect

disease

0.100

None

0