DisGeNET - a database of gene-disease associations

Source: ALL

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

Disease

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

CUI:	C0175754
Disease:	Agenesis of corpus callosum

Agenesis of corpus callosum

0.010

GeneticVariation

disease

BEFREE

We describe a fetus with a novel de novo mutation in PRICKLE1 associated with agenesis of the corpus callosum.

2015