| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.170 | Biomarker | disease | BEFREE | POMT1-related disorders belong to the group of dystroglycanopathies characterized by a proximally pronounced muscular dystrophy with structural or functional involvement of the brain and/or the eyes. | 31311558 | 2019 | ||||
|
0.170 | GeneticVariation | disease | BEFREE | Mutations in the coding gene, POMT1, have been described to be related to a series of autosomal recessive disorders associated with defective alpha-dystroglycan glycosylation, later termed muscular dystrophy-dystroglycanopathies (MDDGs). | 30454682 | 2019 | ||||
|
0.170 | GeneticVariation | disease | BEFREE | Compound heterozygous POMT1 mutations in a Chinese family with autosomal recessive muscular dystrophy-dystroglycanopathy C1. | 28157257 | 2017 | ||||
|
0.170 | GeneticVariation | disease | BEFREE | Dystroglycanopathy with two novel POMT1 mutations in a Chinese boy with developmental delay and muscular dystrophy. | 24657014 | 2014 | ||||
|
0.170 | Biomarker | disease | BEFREE | This case report extends the phenotypic spectrum of POMT1 associated muscular dystrophies to the adult onset limb girdle muscular dystrophies with psycho-organic deficits. | 25088310 | 2014 | ||||
|
0.170 | GeneticVariation | disease | BEFREE | Dystroglycan is a protein which binds directly to two proteins defective in muscular dystrophies (dystrophin and laminin alpha2) and whose own aberrant post-translational modification is the common aetiological route of neuromuscular diseases associated with mutations in genes encoding at least six other proteins (POMT1, POMT2, POMGnT1, LARGE, FKTN and FKRP). | 20234391 | 2010 | ||||
|
0.170 | GeneticVariation | disease | BEFREE | To assess the range and severity of brain involvement, as assessed by magnetic resonance imaging, in 27 patients with mutations in POMT1 (4), POMT2 (9), POMGnT1 (7), Fukutin (4), or LARGE (3), responsible for muscular dystrophies with abnormal glycosylation of dystroglycan (dystroglycanopathies). | 19067344 | 2008 | ||||
|
0.170 | Biomarker | disease | HPO |