DisGeNET - a database of gene-disease associations

Source: INFERRED

Disease: Microcephaly, Primary Autosomal Recessive, 5 ×

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:	C1837501
Disease:	Microcephaly, Primary Autosomal Recessive, 5

Microcephaly, Primary Autosomal Recessive, 5

0.610

GeneticVariation

CLINVAR

Comprehensive genomic analysis of patients with disorders of cerebral cortical development.

29706646

2018

Entrez Id:	259266
Gene Symbol:	ASPM

ASPM

CUI:	C1837501
Disease:	Microcephaly, Primary Autosomal Recessive, 5

Microcephaly, Primary Autosomal Recessive, 5

0.610

GeneticVariation

CLINVAR

Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to ASPM mutations.

19770472

2009

Entrez Id:	259266
Gene Symbol:	ASPM

ASPM

CUI:	C1837501
Disease:	Microcephaly, Primary Autosomal Recessive, 5

Microcephaly, Primary Autosomal Recessive, 5

0.610

GeneticVariation

CLINVAR

ASPM is a major determinant of cerebral cortical size.

12355089

2002

Entrez Id:	259266
Gene Symbol:	ASPM

ASPM

CUI:	C1837501
Disease:	Microcephaly, Primary Autosomal Recessive, 5

Microcephaly, Primary Autosomal Recessive, 5

0.610

CausalMutation

CLINVAR