Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 122622
Gene Symbol: ADSS1
ADSS1
0.030 Biomarker group BEFREE ADSSL1 myopathy was recently identified as the cause of muscular disorders in Korean patients with distal myopathy. 30853170 2019
Entrez Id: 122622
Gene Symbol: ADSS1
ADSS1
0.030 GeneticVariation group BEFREE Distal myopathy with ADSSL1 mutations in Korean patients. 28268051 2017
Entrez Id: 122622
Gene Symbol: ADSS1
ADSS1
0.030 GeneticVariation group BEFREE We suggest that mutations in ADSSL1 are the novel genetic cause of the autosomal recessive adolescent onset distal myopathy. 26506222 2016