Emery-dreifuss muscular dystrophy

Disease Term Disease ID Gene Symbol Classification References Source
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder) C0410190 EMD Causal Pathogenic evidence from ClinVar - ClinVar
LMNA Causal Pathogenic evidence from ClinVar 1849984, 10739764, 10814726, 10939567, 11503164, 11792809, 11799477, 11901143, 12032588, 12649505, 14659775, 14684700, 15148145, 15372542, 15744034, 16772334, 17377071, 18478590, 18551513, 18564364, 19524666, 20186049, 20498703, 20848652, 20886652, 20980393, 21173262, 21632249, 22431096, 22883396, 23349452, 23427149, 24642510, 27234031, 27532257, 27717888, 30055862 ClinVar
SYNE1 Causal Pathogenic evidence from ClinVar - ClinVar
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 21391237 -
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy C1450051 EMD Causal Pathogenic evidence from ClinVar - ClinVar
LMNA Causal Pathogenic evidence from ClinVar 10814726, 12032588, 30055862 ClinVar
SYNE1 Causal Pathogenic evidence from ClinVar - ClinVar
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 - -
Muscular Dystrophy, Emery-Dreifuss C0410189 EMD Causal Pathogenic evidence from ClinVar - ClinVar
FHL1 Causal Pathogenic evidence from ClinVar - ClinVar
LMNA Causal Pathogenic evidence from ClinVar 10814726, 12032588, 30055862 ClinVar
SYNE1 Causal Pathogenic evidence from ClinVar - ClinVar
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 - -
Autosomal dominant Emery-Dreifuss muscular dystrophy 98853 LMNA Causal Pathogenic evidence from ClinVar - ClinVar
SYNE1 Causal Pathogenic evidence from ClinVar - ClinVar
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 - -
Autosomal recessive Emery-Dreifuss muscular dystrophy 98855 LMNA Causal Pathogenic evidence from ClinVar - ClinVar
Emery-Dreifuss Muscular Dystrophy 3 C2750035 LMNA Causal Pathogenic evidence from ClinVar 20186049, 22431096, 27234031, 27532257 ClinVar
Emery-Dreifuss Muscular Dystrophy 4 C2751807 SYNE1 Causal Pathogenic evidence from ClinVar 17159980, 17761684, 19542096, 23959263, 24123876 ClinVar
EMERY-DREIFUSS MUSCULAR DYSTROPHY 5, AUTOSOMAL DOMINANT C2751805 ESR2 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 17761684, 19542096 -
EMERY-DREIFUSS MUSCULAR DYSTROPHY 7, AUTOSOMAL DOMINANT C3553060 TMEM43 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 21391237, 26840987, 27532257 -