Disease Term Disease ID Gene Symbol References
Autosomal dominant Emery-Dreifuss muscular dystrophy 98853 LMNA
SYNE1
TMEM43
SYNE2
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder) C0410190 EMD
LMNA 11792809, 10739764, 16772334, 24642510, 15148145, 12032588, 22431096, 14659775, 22883396, 1849984, 10939567, 21632249, 18478590, 11901143, 15744034, 20980393, 23349452, 27234031, 11799477, 12649505, 30055862, 21173262, 19524666, 18551513, 15372542, 17377071, 20498703, 27717888, 11503164, 23427149, 14684700, 10814726, 20848652, 20186049, 27532257, 20886652, 18564364
SYNE2
SYNE1
TMEM43 21391237
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy C1450051, 98855 EMD
LMNA 12032588, 10814726, 30055862
SYNE2
SYNE1
TMEM43
Emery-Dreifuss Muscular Dystrophy 3 C2750035 LMNA 20186049, 27234031, 22431096, 27532257
Emery-Dreifuss Muscular Dystrophy 4 C2751807 SYNE1 23959263, 17761684, 24123876, 17159980, 19542096
EMERY-DREIFUSS MUSCULAR DYSTROPHY 5, AUTOSOMAL DOMINANT C2751805 ESR2
SYNE2 19542096, 17761684
EMERY-DREIFUSS MUSCULAR DYSTROPHY 7, AUTOSOMAL DOMINANT C3553060 TMEM43 26840987, 27532257, 21391237
Muscular Dystrophy, Emery-Dreifuss C0410189 EMD
FHL1
LMNA 12032588, 10814726, 30055862
SYNE2
SYNE1
TMEM43