DisGeNET - a database of gene-disease associations

Source: INFERRED

Disease: Autosomal Recessive Primary Microcephaly ×

Gene: ASPM ×

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:	259266
Gene Symbol:	ASPM

ASPM

CUI:	C3711387
Disease:	Autosomal Recessive Primary Microcephaly

Autosomal Recessive Primary Microcephaly

0.700

CausalMutation

CLINVAR

Entrez Id:	259266
Gene Symbol:	ASPM

ASPM

CUI:	C3711387
Disease:	Autosomal Recessive Primary Microcephaly

Autosomal Recessive Primary Microcephaly

0.700

GeneticVariation

CLINVAR