| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.170 | GeneticVariation | disease | BEFREE | We describe three brothers aged 21, 19, and 17 years with an apparently homozygous POMT2 mutation who all presented with congenital muscular dystrophy, intellectual disabilities, and distinct cardiac abnormalities. | 24002165 | 2014 | ||||
|
0.170 | GeneticVariation | disease | BEFREE | POMT2 intragenic deletions and splicing abnormalities causing congenital muscular dystrophy with mental retardation. | 19138766 | 2009 | ||||
|
0.170 | GeneticVariation | disease | BEFREE | A novel POMT2 mutation causes mild congenital muscular dystrophy with normal brain MRI. | 18804929 | 2009 | ||||
|
0.170 | GeneticVariation | disease | BEFREE | Allelic mutations in each of these genes can result in a wide spectrum of clinical conditions, ranging from severe congenital onset with associated structural brain malformations (Walker Warburg syndrome; muscle-eye-brain disease; Fukuyama muscular dystrophy; congenital muscular dystrophy type 1D) to a relatively milder congenital variant with no brain involvement (congenital muscular dystrophy type 1C), and to limb-girdle muscular dystrophy (LGMD) type 2 variants with onset in childhood or adult life (LGMD2I, LGMD2L, and LGMD2N). | 19019316 | 2008 | ||||
|
0.170 | Biomarker | disease | BEFREE | As part of a multicentric Italian study we screened the POMT1 and POMT2 genes in 61 congenital muscular dystrophy (CMD) patients with alpha-dystroglycan reduction on muscle biopsy and/or clinical and radiological findings suggestive of the known forms of CMD with alpha-dystroglycan deficiency. | 18513969 | 2008 | ||||
|
0.170 | GeneticVariation | disease | BEFREE | Mutations in POMT2 gene have been identified in patients with congenital muscular dystrophy and brain involvement, either characterized by a Walker-Warburg/muscle-eye-brain phenotype, or by microcephaly, mental retardation, and cerebellar hypoplasia. | 17923109 | 2007 | ||||
|
0.170 | GeneticVariation | disease | BEFREE | New POMT2 mutations causing congenital muscular dystrophy: identification of a founder mutation. | 17634419 | 2007 | ||||
|
0.170 | Biomarker | disease | HPO |