DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Abnormality of brain morphology ×

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:	5660
Gene Symbol:	PSAP

PSAP

CUI:	C4021085
Disease:	Abnormality of brain morphology

Abnormality of brain morphology

0.100

CausalMutation

CLINVAR

Sphingolipid activator protein B deficiency: report of 9 Saudi patients and review of the literature.

2009