Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Bulbo-Spinal Atrophy, X-Linked
CUI: C1839259
Disease: Bulbo-Spinal Atrophy, X-Linked
0.010 GeneticVariation BEFREE We retrospectively re-assessed muscle biopsy findings in 23 patients with autosomal dominant lower motor neuron disease caused by p.G66V mutation in CHCHD10 (SMAJ), 10 X-linked spinal and bulbar muscular atrophy (SBMA) and 11 autosomal dominant c9orf72-mutated amyotrophic lateral sclerosis (c9ALS) patients. 26999347 2016