ADSS1, adenylosuccinate synthase 1, 122622

N. diseases: 49; N. variants: 3
Disease: Distal Muscular Dystrophies ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0751336
Disease: Distal Muscular Dystrophies
Distal Muscular Dystrophies 		0.030 Biomarker group BEFREE ADSSL1 myopathy was recently identified as the cause of muscular disorders in Korean patients with distal myopathy. 30853170 2019
CUI: C0751336
Disease: Distal Muscular Dystrophies
Distal Muscular Dystrophies 		0.030 GeneticVariation group BEFREE Distal myopathy with ADSSL1 mutations in Korean patients. 28268051 2017
CUI: C0751336
Disease: Distal Muscular Dystrophies
Distal Muscular Dystrophies 		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