| Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
X-linked centronuclear myopathy
|
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 | |||||
X-linked centronuclear myopathy
|
0.800 | CausalMutation | CLINVAR | Predisposition to subdural hemorrhage in X-linked myotubular myopathy. | 22520358 | 2012 | |||||
X-linked centronuclear myopathy
|
0.800 | GeneticVariation | UNIPROT | Clinical utility gene card for: Centronuclear and myotubular myopathies. | 22617344 | 2012 | |||||
X-linked centronuclear myopathy
|
0.800 | GeneticVariation | UNIPROT | X-linked myotubular myopathy with a novel MTM1 mutation in a Taiwanese child. | 19129059 | 2008 | |||||
X-linked centronuclear myopathy
|
0.800 | CausalMutation | CLINVAR | Multiple disease-linked myotubularin mutations cause NFL assembly defects in cultured cells and disrupt myotubularin dimerization. | 17973976 | 2008 | |||||
X-linked centronuclear myopathy
|
0.800 | GeneticVariation | UNIPROT | Extreme phenotypic variability in a German family with X-linked myotubular myopathy associated with E404K mutation in MTM1. | 17005396 | 2006 | |||||
X-linked centronuclear myopathy
|
0.800 | GeneticVariation | UNIPROT | X-linked myotubular myopathy in a family with three adult survivors. | 12859411 | 2003 | |||||
X-linked centronuclear myopathy
|
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 | |||||
X-linked centronuclear myopathy
|
0.800 | GeneticVariation | UNIPROT | Characterization of mutations in fifty North American patients with X-linked myotubular myopathy. | 11793470 | 2002 | |||||
X-linked centronuclear myopathy
|
0.800 | GeneticVariation | UNIPROT | Rapid scanning of myotubularin (MTM1) gene by denaturing high-performance liquid chromatography (DHPLC). | 12031625 | 2002 | |||||
X-linked centronuclear myopathy
|
0.800 | GeneticVariation | UNIPROT | MTM1 mutations in X-linked myotubular myopathy. | 10790201 | 2000 | |||||
X-linked centronuclear myopathy
|
0.800 | GeneticVariation | UNIPROT | Identification of novel mutations in the MTM1 gene causing severe and mild forms of X-linked myotubular myopathy. | 10502779 | 1999 | |||||
X-linked centronuclear myopathy
|
0.800 | GeneticVariation | UNIPROT | Germline mosaicism in X-linked myotubular myopathy. | 10466421 | 1999 | |||||
X-linked centronuclear myopathy
|
0.800 | GeneticVariation | UNIPROT | Characterization of 34 novel and six known MTM1 gene mutations in 47 unrelated X-linked myotubular myopathy patients. | 10063835 | 1999 | |||||
X-linked centronuclear myopathy
|
0.800 | GeneticVariation | UNIPROT | MTM1 gene mutations in Japanese patients with the severe infantile form of myotubular myopathy. | 9829274 | 1998 | |||||
X-linked centronuclear myopathy
|
0.800 | CausalMutation | CLINVAR | Characterization of mutations in the myotubularin gene in twenty six patients with X-linked myotubular myopathy. | 9285787 | 1997 | |||||
X-linked centronuclear myopathy
|
0.800 | GeneticVariation | UNIPROT | Characterization of mutations in the myotubularin gene in twenty six patients with X-linked myotubular myopathy. | 9285787 | 1997 | |||||
X-linked centronuclear myopathy
|
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 | |||||
Diffuse white matter abnormalities
|
0.700 | CausalMutation | CLINVAR | ||||||||
Polyhydramnios
|
0.700 | CausalMutation | CLINVAR | ||||||||
Generalized neonatal hypotonia
|
0.700 | CausalMutation | CLINVAR | ||||||||
Large nostrils
|
0.700 | CausalMutation | CLINVAR | ||||||||
Neonatal Hypotonia
|
0.700 | CausalMutation | CLINVAR | ||||||||
Leukoaraiosis
|
0.700 | CausalMutation | CLINVAR | ||||||||
Reduced fetal movement
|
0.700 | CausalMutation | CLINVAR |