DisGeNET - a database of gene-disease associations

Summary of VDAs
Evidences for VDAs

rs571785750, LAMC3

N. diseases: 1

Disease: CORTICAL MALFORMATIONS, OCCIPITAL ×

Source: CURATED ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

CORTICAL MALFORMATIONS, OCCIPITAL

CUI:	C3279875
Disease:	CORTICAL MALFORMATIONS, OCCIPITAL

0.800

GeneticVariation

UNIPROT

Recessive LAMC3 mutations cause malformations of occipital cortical development.

21572413

2011

CORTICAL MALFORMATIONS, OCCIPITAL

CUI:	C3279875
Disease:	CORTICAL MALFORMATIONS, OCCIPITAL

0.800

CausalMutation

CLINVAR