DisGeNET - a database of gene-disease associations

VANGL2, VANGL planar cell polarity protein 2, 57216

N. diseases: 78; N. variants: 5

Disease: Anencephaly ×

Source: ALL

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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

Disease

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

CUI:	C0002902
Disease:	Anencephaly

Anencephaly

0.400

SusceptibilityMutation

disease

ORPHANET

VANGL2 mutations in human cranial neural-tube defects.

2010

CUI:	C0002902
Disease:	Anencephaly

Anencephaly

0.400

Biomarker

disease

HPO