DisGeNET - a database of gene-disease associations

Source: ALL

Disease: Macrocephaly ×

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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:	4774
Gene Symbol:	NFIA

NFIA

CUI:	C0221355
Disease:	Macrocephaly

Macrocephaly

0.110

GeneticVariation

BEFREE

A novel 1p31.3p32.2 deletion involving the NFIA gene detected by array CGH in a patient with macrocephaly and hypoplasia of the corpus callosum.

2010

Entrez Id:	4774
Gene Symbol:	NFIA

NFIA

CUI:	C0221355
Disease:	Macrocephaly

Macrocephaly

0.110

Biomarker

HPO