rs137853316, FLNA

N. diseases: 4
Disease: Muscular Dystrophy, Facioscapulohumeral ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Muscular Dystrophy, Facioscapulohumeral
CUI: C0238288
Disease: Muscular Dystrophy, Facioscapulohumeral
0.010 GeneticVariation BEFREE We report on a novel de novo mutation 5182G --> T in exon 31 of the FLNA gene in a girl with manifestations of FMD and OPD1. 16596676 2006