DisGeNET - a database of gene-disease associations

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K, C1836373

Variant: rs766648827 ×

Source: ALL

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

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs766648827

POMT1

0.700

CausalMutation

CLINVAR

Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies.

22323514

2012

dbSNP:

rs766648827

POMT1

0.700

CausalMutation

CLINVAR

Molecular heterogeneity in fetal forms of type II lissencephaly.

17559086

2007

dbSNP:

rs766648827

POMT1

0.700

CausalMutation

CLINVAR

The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation.

16575835

2006

dbSNP:

rs766648827

POMT1

0.700

CausalMutation

CLINVAR

Mutations in POMT1 are found in a minority of patients with Walker-Warburg syndrome.

15637732

2005

dbSNP:

rs766648827

POMT1

0.700

CausalMutation

CLINVAR

Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome.

12369018

2002