DisGeNET - a database of gene-disease associations

X-linked centronuclear myopathy, C0410203

Variant: rs587783754 ×

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:

rs587783754

MTM1

0.800

GeneticVariation

UNIPROT

Loss of catalytically inactive lipid phosphatase myotubularin-related protein 12 impairs myotubularin stability and promotes centronuclear myopathy in zebrafish.

23818870

2013

dbSNP:

rs587783754

MTM1

0.800

GeneticVariation

UNIPROT

Clinical utility gene card for: Centronuclear and myotubular myopathies.

22617344

2012

dbSNP:

rs587783754

MTM1

0.800

GeneticVariation

UNIPROT

X-linked myotubular myopathy with a novel MTM1 mutation in a Taiwanese child.

19129059

2008

dbSNP:

rs587783754

MTM1

0.800

GeneticVariation

UNIPROT

Extreme phenotypic variability in a German family with X-linked myotubular myopathy associated with E404K mutation in MTM1.

17005396

2006

dbSNP:

rs587783754

MTM1

0.800

GeneticVariation

UNIPROT

Characterisation of mutations in 77 patients with X-linked myotubular myopathy, including a family with a very mild phenotype.

12522554

2003

dbSNP:

rs587783754

MTM1

0.800

GeneticVariation

UNIPROT

X-linked myotubular myopathy in a family with three adult survivors.

12859411

2003

dbSNP:

rs587783754

MTM1

0.800

GeneticVariation

UNIPROT

Characterization of mutations in fifty North American patients with X-linked myotubular myopathy.

11793470

2002

dbSNP:

rs587783754

MTM1

0.800

GeneticVariation

UNIPROT

Rapid scanning of myotubularin (MTM1) gene by denaturing high-performance liquid chromatography (DHPLC).

12031625

2002

dbSNP:

rs587783754

MTM1

0.800

GeneticVariation

UNIPROT

MTM1 mutations in X-linked myotubular myopathy.

10790201

2000

dbSNP:

rs587783754

MTM1

0.800

GeneticVariation

UNIPROT

Identification of novel mutations in the MTM1 gene causing severe and mild forms of X-linked myotubular myopathy.

10502779

1999

dbSNP:

rs587783754

MTM1

0.800

GeneticVariation

UNIPROT

Germline mosaicism in X-linked myotubular myopathy.

10466421

1999

dbSNP:

rs587783754

MTM1

0.800

GeneticVariation

UNIPROT

Characterization of 34 novel and six known MTM1 gene mutations in 47 unrelated X-linked myotubular myopathy patients.

10063835

1999

dbSNP:

rs587783754

MTM1

0.800

GeneticVariation

UNIPROT

MTM1 gene mutations in Japanese patients with the severe infantile form of myotubular myopathy.

9829274

1998

dbSNP:

rs587783754

MTM1

0.800

GeneticVariation

UNIPROT

Mutations in the MTM1 gene implicated in X-linked myotubular myopathy. ENMC International Consortium on Myotubular Myopathy. European Neuro-Muscular Center.

9305655

1997

dbSNP:

rs587783754

MTM1

0.800

GeneticVariation

UNIPROT

Characterization of mutations in the myotubularin gene in twenty six patients with X-linked myotubular myopathy.

9285787

1997

dbSNP:

rs587783754

MTM1

0.800

CausalMutation

CLINVAR