DisGeNET - a database of gene-disease associations

rs200198778, POMT2

N. diseases: 5

Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 2 ×

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 2

CUI:	C3150418
Disease:	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 2

0.700

CausalMutation

CLINVAR

Novel cardiovascular findings in association with a POMT2 mutation: three siblings with α-dystroglycanopathy.

24002165

2014

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 2

CUI:	C3150418
Disease:	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 2

0.700

CausalMutation

CLINVAR

New POMT2 mutations causing congenital muscular dystrophy: identification of a founder mutation.

17634419

2007

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 2

CUI:	C3150418
Disease:	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 2

0.700

CausalMutation

CLINVAR

IL-20 is an arteriogenic cytokine that remodels collateral networks and improves functions of ischemic hind limbs.

17878297

2007