Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4617
Gene Symbol: MYF5
MYF5
0.110 GeneticVariation disease BEFREE Here, we report three consanguineous families with biallelic homozygous loss-of-function mutations in MYF5 who define a clinical disorder characterized by congenital ophthalmoplegia with scoliosis and vertebral and rib anomalies. 29887215 2018
Entrez Id: 4617
Gene Symbol: MYF5
MYF5
0.110 CausalMutation disease CLINVAR