| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.090 | GeneticVariation | group | BEFREE | Dystonia musculorum (Dst<sup>dt</sup> ) is a murine disease caused by recessive mutations in the dystonin (Dst) gene. | 31814231 | 2020 | ||||
|
0.090 | GeneticVariation | group | BEFREE | Dystonia musculorum (dt) mice, which have a mutation in the Dystonin (Dst) gene, are used as animal models to investigate the human disease known as hereditary sensory and autonomic neuropathy type VI. | 29061384 | 2018 | ||||
|
0.090 | GeneticVariation | group | BEFREE | Homozygous mutations in the murine Dst gene cause a severe sensory neuropathy termed dystonia musculorum (dt). | 24381311 | 2014 | ||||
|
0.090 | AlteredExpression | group | BEFREE | Loss of dystonin expression in mice results in a profound sensory ataxia termed dystonia musculorum (dt), which is attributed to the degeneration of sensory nerves. | 23273860 | 2013 | ||||
|
0.090 | Biomarker | group | BEFREE | Loss of function of dystonin cytoskeletal linker proteins causes neurodegeneration in dystonia musculorum (dt) mutant mice. | 22412020 | 2012 | ||||
|
0.090 | GeneticVariation | group | BEFREE | Dystonia musculorum (dt) is an autosomal recessive hereditary neuropathy with a characteristic uncoordinated movement and is caused by a defect in the bullous pemphigoid antigen 1 (BPAG1) gene. | 21272373 | 2011 | ||||
|
0.090 | Biomarker | group | BEFREE | BPAG1 is also known as a gene responsible for Dystonia musculorum (dt) neurodegeneration syndrome of the mouse. | 11751855 | 2002 | ||||
|
0.090 | Biomarker | group | BEFREE | Concerning the pathoetiology of the association of bullous pemphigoid and Shy-Drager syndrome, we discuss a sequence similarity between BPAG1 and dystonin, a candidate gene for dystonia musculorum. | 9714981 | 1998 | ||||
|
0.090 | Biomarker | group | BEFREE | The mouse dystonia musculorum gene is a neural isoform of bullous pemphigoid antigen 1. | 7670468 | 1995 |