rs781565158, PYROXD1

N. diseases: 22
Disease: Myofibrillar Myopathy ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Myofibrillar Myopathy
CUI: C2678065
Disease: Myofibrillar Myopathy
0.010 GeneticVariation BEFREE One Sudanese family of Arab descent residing in Saudi Arabia harbored a homozygous c.464A>G, p.Asn155Ser mutation in PYROXD1, a gene recently reported in association with myofibrillar myopathy and whose protein product reduces thiol residues. 30345904 2018