DisGeNET - a database of gene-disease associations

Gene: POMT1 ×

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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:	10585
Gene Symbol:	POMT1

POMT1

CUI:	C0265221
Disease:	Walker-Warburg congenital muscular dystrophy

Walker-Warburg congenital muscular dystrophy

0.700

GermlineCausalMutation

ORPHANET

The mutations in either POMT1 or POMT2 can lead to Walker-Warburg syndrome, a congenital muscular dystrophy with abnormal neuronal migration.

2010