Emery-dreifuss muscular dystrophy, x-linked

Disease Term Disease ID Gene Symbol Classification References Source
X-linked Emery-Dreifuss muscular dystrophy 98863 EMD Causal Pathogenic evidence from ClinVar - ClinVar
FHL1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
X-Linked Emery-Dreifuss Muscular Dystrophy C0751337 EMD Causal Pathogenic evidence from ClinVar 7894480, 8589715, 8595407, 8595433, 9195226, 10323252, 10382909, 11587540, 15009215, 15328537, 15967842, 17620497, 19997654, 21520333, 21697856, 26247046, 29349559 ClinVar
FHL1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
LMNA Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 10814726, 12032588, 30055862 -
MYH7 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 10750581, 17336526, 20186049, 23283745, 23290139, 23299917, 25132132, 27532257 -
SYNE1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
SYNE2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
TMEM43 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Emery-Dreifuss Muscular Dystrophy 6, X-Linked C2749106 FHL1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -