Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:Emery-Dreifuss muscular dystrophy
go back to main search page
Accession:DOID:11726 term browser browse the term
Definition:A muscular dystrophy that chiefly affects muscles used for movement (skeletal) and heart (cardiac) muscle. (DO)
Synonyms:exact_synonym: EDMD;   Emery Dreifuss syndrome;   Emery-Dreifuss type muscular dystrophy;   benign scapuloperoneal muscular dystrophy with cardiomyopathy;   benign scapuloperoneal muscular dystrophy with early contractures;   humeroperoneal neuromuscular disease
 narrow_synonym: X-linked Emery-Dreifuss muscular dystrophy;   autosomal dominant Emery Dreifuss muscular dystrophy;   autosomal recessive Emery Dreifuss muscular dystrophy
 primary_id: MESH:D020389
 xref: GARD:6329;   NCI:C84685;   OMIM:PS310300;   ORDO:261
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Emery-Dreifuss muscular dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Emd emerin ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy, X-linked
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy, X-linked, UMLS OMIM term: EMD1
ClinVar
CTD
PMID:7894480 PMID:8595406 PMID:8655156 PMID:9536090 PMID:10323252 PMID:10382909 PMID:10393813 PMID:17067998 PMID:19997654 PMID:21697856 PMID:25741868 PMID:26415001 PMID:26675233 PMID:28492532, PMID:7894480 RGD:1598907 NCBI chr  X:156,452,847...156,455,858
Ensembl chr  X:156,452,818...156,456,035
JBrowse link
G Esr1 estrogen receptor 1 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar NCBI chr 1:41,192,029...41,594,799
Ensembl chr 1:41,192,824...41,594,796
JBrowse link
G Gtpbp1 GTP binding protein 1 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:28492532 NCBI chr 7:120,923,274...120,947,723
Ensembl chr 7:120,923,274...120,947,723
JBrowse link
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy
ClinVar Annotator: match by term: Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
ClinVar Annotator: match by term: Benign scapuloperoneal muscular dystrophy with cardiomyopathy
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:181350
ClinVar
CTD
PMID:10612827 PMID:10655060 PMID:10814726 PMID:11503164 PMID:12032588 PMID:12376891 PMID:12467752 PMID:12629077 PMID:12920062 PMID:12927431 PMID:14597414 PMID:14615128 PMID:14749366 PMID:15140538 PMID:15205219 PMID:15372542 PMID:15475483 PMID:15998779 PMID:16174718 PMID:16440304 PMID:17107595 PMID:17274801 PMID:17377071 PMID:18396274 PMID:18414213 PMID:18549403 PMID:18795223 PMID:19318026 PMID:19424285 PMID:19427440 PMID:19524666 PMID:19589617 PMID:19638735 PMID:19680556 PMID:20848652 PMID:20980393 PMID:21520333 PMID:22224630 PMID:22266370 PMID:22326558 PMID:22464770 PMID:22918509 PMID:23183350 PMID:23328570 PMID:23853504 PMID:23861362 PMID:23977161 PMID:24001739 PMID:24033266 PMID:24055113 PMID:24503780 PMID:24623722 PMID:24642510 PMID:24721642 PMID:24768879 PMID:24794538 PMID:24846508 PMID:25214167 PMID:25448463 PMID:25637381 PMID:25741868 PMID:25786579 PMID:26183555 PMID:26332594 PMID:26467025 PMID:26602028 PMID:26752647 PMID:27532257 PMID:27585670 PMID:27723096 PMID:27813223 PMID:27854218 PMID:27896052 PMID:27919367 PMID:28074886 PMID:28255936 PMID:28492532 PMID:28531892 PMID:28663758 PMID:28679633 PMID:28785654 PMID:29040816 PMID:29149195 PMID:29237675 PMID:29791652 PMID:30055862 PMID:30165862 PMID:30311386, PMID:12196663 RGD:1580516 NCBI chr 2:187,842,884...187,863,552
Ensembl chr 2:187,842,885...187,863,516
JBrowse link
G Sun1 Sad1 and UNC84 domain containing 1 severity ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy
protein:altered localization:liver, Golgi (mouse)
ClinVar PMID:28492532, PMID:22541428, PMID:22541428 RGD:10044242, RGD:10044242 NCBI chr12:17,488,482...17,533,334
Ensembl chr12:17,488,487...17,522,534
JBrowse link
G Sun2 Sad1 and UNC84 domain containing 2 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:2521088 PMID:25210889 PMID:28492532 NCBI chr 7:120,950,391...120,967,583
Ensembl chr 7:120,951,560...120,967,490
JBrowse link
G Syne1 spectrin repeat containing nuclear envelope protein 1 ISO ClinVar Annotator: match by OMIM:612998
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy
DNA:deletion:cds:
ClinVar
CTD
PMID:26467025 PMID:28492532, PMID:19008300 RGD:13209003 NCBI chr 1:41,608,287...41,763,591
NCBI chr 1:41,844,840...42,086,662
Ensembl chr 1:41,608,418...42,077,535
JBrowse link
G Syne2 spectrin repeat containing nuclear envelope protein 2 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:28492532 NCBI chr 6:98,884,269...99,153,551 JBrowse link
G Tmem43 transmembrane protein 43 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:123,118,468...123,133,610
Ensembl chr 4:123,118,468...123,133,609
JBrowse link
G Zmpste24 zinc metallopeptidase STE24 ISS OMIM:181350 | OMIM:300696 | OMIM:310300 | OMIM:612998 | OMIM:612999 | OMIM:614302 MouseDO NCBI chr 5:139,982,404...140,015,541
Ensembl chr 5:139,983,680...140,015,541
JBrowse link
autosomal dominant Emery-Dreifuss muscular dystrophy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 2, autosomal dominant
ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, PROXIMAL, TYPE 1B
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 1B
ClinVar Annotator: match by term: EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AUTOSOMAL DOMINANT
DNA:frameshift mutation:cds:c.625_626delA (human)
DNA:deletion, missense mutation, snp:cds, intron:p.K208del, p.R377H, g.IVS9+5G>C (human)
DNA:missense mutations, nonsense mutation:cds:multiple (human)
ClinVar
OMIM
PMID:1839274 PMID:1849984 PMID:2280636 PMID:8619549 PMID:9106535 PMID:10080180 PMID:10612827 PMID:10655060 PMID:10662742 PMID:10739764 PMID:10814726 PMID:10939567 PMID:11138304 PMID:11503164 PMID:11561226 PMID:11731280 PMID:11792809 PMID:11901143 PMID:12032588 PMID:12057196 PMID:12075506 PMID:12196663 PMID:12628721 PMID:12629077 PMID:12649505 PMID:12673789 PMID:12748643 PMID:12920062 PMID:12927431 PMID:14597414 PMID:14615128 PMID:14627682 PMID:14659775 PMID:14684700 PMID:14749366 PMID:15053843 PMID:15140538 PMID:15148145 PMID:15205219 PMID:15372542 PMID:15475483 PMID:15668447 PMID:15744034 PMID:15998779 PMID:16174718 PMID:16218190 PMID:16386954 PMID:16440304 PMID:16772334 PMID:17136397 PMID:17274801 PMID:17377071 PMID:18035086 PMID:18396274 PMID:18414213 PMID:18549403 PMID:18551513 PMID:18551515 PMID:18564364 PMID:18604166 PMID:18646565 PMID:18795223 PMID:19084400 PMID:19318026 PMID:19424285 PMID:19427440 PMID:19432833 PMID:19524666 PMID:19589617 PMID:19638735 PMID:19680556 PMID:19882644 PMID:19933576 PMID:20301609 PMID:20376791 PMID:20498703 PMID:20848652 PMID:20886652 PMID:20980393 PMID:21173262 PMID:21315846 PMID:21520333 PMID:21535365 PMID:21632249 PMID:21840938 PMID:22224630 PMID:22266370 PMID:22326558 PMID:22431096 PMID:22464770 PMID:22883396 PMID:22918509 PMID:23077635 PMID:23183350 PMID:23328570 PMID:23349452 PMID:23362510 PMID:23427149 PMID:23497705 PMID:23853504 PMID:23861362 PMID:24001739 PMID:24033266 PMID:24055113 PMID:24237251 PMID:24349489 PMID:24375749 PMID:24503780 PMID:24508248 PMID:24642510 PMID:24656463 PMID:24721642 PMID:24768879 PMID:24806962 PMID:24846508 PMID:24990833 PMID:25214167 PMID:25286833 PMID:25324471 PMID:25326637 PMID:25637381 PMID:25741868 PMID:25786579 PMID:25823658 PMID:25948554 PMID:25982065 PMID:25987458 PMID:26098624 PMID:26165385 PMID:26183555 PMID:26332594 PMID:26443318 PMID:26467025 PMID:26602028 PMID:26752647 PMID:27220833 PMID:27532257 PMID:27585670 PMID:27717888 PMID:27723096 PMID:27813223 PMID:27854218 PMID:27896052 PMID:27919367 PMID:28074886 PMID:28255936 PMID:28492532 PMID:28531892 PMID:28663758 PMID:28679633 PMID:28785654 PMID:29040816 PMID:29057633 PMID:29149195 PMID:29237675 PMID:29676528 PMID:29753763 PMID:29791652 PMID:29893365 PMID:30055862 PMID:30165862 PMID:30311386, PMID:17446932, PMID:17701980, PMID:10814726, PMID:10080180 RGD:2306094, RGD:12791273, RGD:11062274, RGD:12791020 NCBI chr 2:187,842,884...187,863,552
Ensembl chr 2:187,842,885...187,863,516
JBrowse link
autosomal dominant Emery-Dreifuss muscular dystrophy 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Esr1 estrogen receptor 1 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 4, autosomal dominant
ClinVar Annotator: match by term: EMERY-DREIFUSS MUSCULAR DYSTROPHY 4 WITH VARIABLE FEATURES
ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 1:41,192,029...41,594,799
Ensembl chr 1:41,192,824...41,594,796
JBrowse link
G Syne1 spectrin repeat containing nuclear envelope protein 1 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 4, autosomal dominant
ClinVar Annotator: match by term: EMERY-DREIFUSS MUSCULAR DYSTROPHY 4 WITH VARIABLE FEATURES
ClinVar Annotator: match by term: Emery-dreifuss muscular dystrophy 4, autosomal dominant
ClinVar
OMIM
PMID:17761684 PMID:18414213 PMID:21572417 PMID:22287014 PMID:23352163 PMID:23959263 PMID:24123366 PMID:24123876 PMID:24892279 PMID:25133958 PMID:25214167 PMID:25401298 PMID:25741868 PMID:25976027 PMID:26467025 PMID:26539891 PMID:26770814 PMID:26870756 PMID:27066551 PMID:27086870 PMID:27178001 PMID:27197992 PMID:27305979 PMID:28017257 PMID:28074886 PMID:28178086 PMID:28492532 PMID:28750076 PMID:29625556 PMID:29961767 PMID:30029642 PMID:30275942 PMID:30311386 PMID:30564623 NCBI chr 1:41,608,287...41,763,591
NCBI chr 1:41,844,840...42,086,662
Ensembl chr 1:41,608,418...42,077,535
JBrowse link
autosomal dominant Emery-Dreifuss muscular dystrophy 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Syne2 spectrin repeat containing nuclear envelope protein 2 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 5, autosomal dominant
ClinVar Annotator: match by term: EMERY-DREIFUSS MUSCULAR DYSTROPHY 5
ClinVar Annotator: match by term: Emery-dreifuss muscular dystrophy 5, autosomal dominant
ClinVar
OMIM
PMID:17761684 PMID:18414213 PMID:22995991 PMID:25179549 PMID:25214167 PMID:25587064 PMID:25741868 PMID:26094658 PMID:26467025 PMID:27632638 PMID:28074886 PMID:28492532 PMID:28798025 PMID:30311386 NCBI chr 6:98,884,269...99,153,551 JBrowse link
autosomal dominant Emery-Dreifuss muscular dystrophy 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmem43 transmembrane protein 43 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 7, autosomal dominant
ClinVar Annotator: match by OMIM:614302
OMIM
ClinVar
PMID:21391237 PMID:21636032 PMID:23812740 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 4:123,118,468...123,133,610
Ensembl chr 4:123,118,468...123,133,609
JBrowse link
autosomal recessive Emery-Dreifuss muscular dystrophy 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmna lamin A/C ISO ClinVar Annotator: match by null
ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 3, autosomal recessive
ClinVar
OMIM
PMID:2007407 PMID:10587585 PMID:10655060 PMID:10739751 PMID:10739764 PMID:10810087 PMID:10868844 PMID:10999791 PMID:10999845 PMID:11078466 PMID:11136544 PMID:11792809 PMID:12927424 PMID:15205219 PMID:16181372 PMID:16364671 PMID:16415042 PMID:18414213 PMID:18728124 PMID:19011997 PMID:19201734 PMID:19418082 PMID:19859838 PMID:20130076 PMID:20625965 PMID:22224630 PMID:22266370 PMID:22431096 PMID:22464770 PMID:22700598 PMID:23183350 PMID:23313286 PMID:23427149 PMID:23853504 PMID:23861362 PMID:24033266 PMID:24503780 PMID:24846508 PMID:25741868 PMID:26467025 PMID:26602028 PMID:26662654 PMID:27532257 PMID:27585670 PMID:27723096 PMID:28492532 PMID:29149195 PMID:29237675 PMID:30165862 PMID:30311386 NCBI chr 2:187,842,884...187,863,552
Ensembl chr 2:187,842,885...187,863,516
JBrowse link
MYH7-Related Scapuloperoneal Myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myh7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: Scapuloperoneal myopathy, MYH7-related OMIM
ClinVar
PMID:1430197 PMID:1552912 PMID:1638703 PMID:1944483 PMID:1975517 PMID:7581410 PMID:7662452 PMID:7731997 PMID:7848420 PMID:8186698 PMID:8254035 PMID:8268932 PMID:9105042 PMID:9140839 PMID:9826622 PMID:9835779 PMID:10024460 PMID:10065021 PMID:10328076 PMID:10521296 PMID:10725281 PMID:10750581 PMID:10882745 PMID:11133230 PMID:11186938 PMID:11447480 PMID:11498078 PMID:11723028 PMID:11861410 PMID:11861413 PMID:11968089 PMID:12081993 PMID:12707239 PMID:12818575 PMID:12820698 PMID:12975413 PMID:14520662 PMID:15010274 PMID:15136674 PMID:15358028 PMID:15483641 PMID:15528230 PMID:15563892 PMID:15699387 PMID:15856146 PMID:15858117 PMID:16199542 PMID:16267253 PMID:16630449 PMID:16858239 PMID:16918501 PMID:17118657 PMID:17125710 PMID:17336526 PMID:17438619 PMID:17560888 PMID:17612745 PMID:18029407 PMID:18374998 PMID:18383048 PMID:18403758 PMID:18409188 PMID:18414213 PMID:18533079 PMID:18761664 PMID:19150014 PMID:19336582 PMID:19880069 PMID:20031618 PMID:20350521 PMID:20376763 PMID:20800588 PMID:21239446 PMID:21310275 PMID:21896538 PMID:21959974 PMID:22112859 PMID:22429680 PMID:22455086 PMID:22857948 PMID:23054336 PMID:23197161 PMID:23233322 PMID:23283745 PMID:23290139 PMID:23299917 PMID:23396983 PMID:23403236 PMID:23549607 PMID:23674513 PMID:23690394 PMID:23711808 PMID:23751935 PMID:23785128 PMID:23861362 PMID:24033266 PMID:24047955 PMID:24093860 PMID:24111713 PMID:24298987 PMID:24503780 PMID:24510615 PMID:24691700 PMID:24704860 PMID:24793961 PMID:25031304 PMID:25132132 PMID:25351510 PMID:25524337 PMID:25611685 PMID:25637381 PMID:25714468 PMID:25741868 PMID:25937619 PMID:26573135 PMID:26743238 PMID:26914223 PMID:26936621 PMID:26969327 PMID:27082122 PMID:27153395 PMID:27247418 PMID:27532257 PMID:27737317 PMID:27831900 PMID:27841901 PMID:27974200 PMID:28138913 PMID:28193612 PMID:28241245 PMID:28408708 PMID:28420666 PMID:28481356 PMID:28492532 PMID:28518168 PMID:28606303 PMID:28615295 PMID:28790153 PMID:29121657 PMID:29212898 PMID:29300372 PMID:30297972 PMID:30511546 PMID:31333075 PMID:31568572 NCBI chr15:33,605,769...33,657,761
Ensembl chr15:33,634,422...33,656,089
JBrowse link
scapuloperoneal myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fhl1 four and a half LIM domains 1 ISS OMIM:181430 | OMIM:300695 MouseDO NCBI chr  X:159,112,516...159,172,528
Ensembl chr  X:159,112,880...159,172,524
JBrowse link
G Myh6 myosin heavy chain 6 ISO ClinVar Annotator: match by term: Scapuloperoneal myopathy ClinVar NCBI chr15:33,605,653...33,629,730
Ensembl chr15:33,605,654...33,629,699
JBrowse link
G Myh7 myosin heavy chain 7 ISO
ISS
ClinVar Annotator: match by term: Scapuloperoneal myopathy
ClinVar Annotator: match by term: Scapuloperoneal syndrome, myopathic type
OMIM:181430 | OMIM:300695
ClinVar
MouseDO
PMID:1430197 PMID:1552912 PMID:1638703 PMID:1944483 PMID:1975517 PMID:7581410 PMID:7662452 PMID:7731997 PMID:7848420 PMID:8186698 PMID:8254035 PMID:8268932 PMID:9105042 PMID:9140839 PMID:9826622 PMID:9835779 PMID:10024460 PMID:10065021 PMID:10328076 PMID:10521296 PMID:10725281 PMID:10750581 PMID:10882745 PMID:11133230 PMID:11186938 PMID:11447480 PMID:11498078 PMID:11723028 PMID:11861410 PMID:11861413 PMID:11968089 PMID:12081993 PMID:12707239 PMID:12818575 PMID:12820698 PMID:12975413 PMID:14520662 PMID:15010274 PMID:15136674 PMID:15358028 PMID:15483641 PMID:15528230 PMID:15563892 PMID:15699387 PMID:15856146 PMID:15858117 PMID:16199542 PMID:16267253 PMID:16630449 PMID:16858239 PMID:16918501 PMID:17118657 PMID:17125710 PMID:17336526 PMID:17438619 PMID:17560888 PMID:17612745 PMID:18029407 PMID:18374998 PMID:18383048 PMID:18403758 PMID:18409188 PMID:18414213 PMID:18533079 PMID:18761664 PMID:19150014 PMID:19336582 PMID:19880069 PMID:20031618 PMID:20350521 PMID:20376763 PMID:20800588 PMID:21239446 PMID:21310275 PMID:21896538 PMID:21959974 PMID:22112859 PMID:22429680 PMID:22455086 PMID:22857948 PMID:23054336 PMID:23197161 PMID:23233322 PMID:23283745 PMID:23290139 PMID:23299917 PMID:23396983 PMID:23403236 PMID:23549607 PMID:23674513 PMID:23690394 PMID:23711808 PMID:23751935 PMID:23785128 PMID:23861362 PMID:24033266 PMID:24047955 PMID:24093860 PMID:24111713 PMID:24298987 PMID:24503780 PMID:24510615 PMID:24691700 PMID:24704860 PMID:24793961 PMID:25031304 PMID:25132132 PMID:25351510 PMID:25524337 PMID:25611685 PMID:25637381 PMID:25714468 PMID:25741868 PMID:25937619 PMID:26573135 PMID:26743238 PMID:26914223 PMID:26936621 PMID:26969327 PMID:27082122 PMID:27153395 PMID:27247418 PMID:27532257 PMID:27737317 PMID:27831900 PMID:27841901 PMID:27974200 PMID:28138913 PMID:28193612 PMID:28241245 PMID:28408708 PMID:28420666 PMID:28481356 PMID:28492532 PMID:28518168 PMID:28606303 PMID:28615295 PMID:28790153 PMID:29121657 PMID:29212898 PMID:29300372 PMID:30297972 PMID:30511546 PMID:31333075 PMID:31568572 NCBI chr15:33,605,769...33,657,761
Ensembl chr15:33,634,422...33,656,089
JBrowse link
X-Linked Dominant Scapuloperoneal Myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fhl1 four and a half LIM domains 1 ISO ClinVar Annotator: match by term: Scapuloperoneal myopathy, X-linked dominant
ClinVar Annotator: match by term: X-linked dominant scapuloperoneal myopathy
ClinVar Annotator: match by OMIM:300695
OMIM
ClinVar
PMID:18179888 PMID:18179901 PMID:19181672 PMID:21629301 PMID:25274776 PMID:26752647 PMID:30260394 NCBI chr  X:159,112,516...159,172,528
Ensembl chr  X:159,112,880...159,172,524
JBrowse link
X-linked Emery-Dreifuss muscular dystrophy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcd1 ATP binding cassette subfamily D member 1 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 1, X-linked ClinVar PMID:28492532 NCBI chr  X:157,073,860...157,095,652
Ensembl chr  X:157,072,736...157,095,274
JBrowse link
G Arhgap4 Rho GTPase activating protein 4 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 1, X-linked ClinVar PMID:28492532 NCBI chr  X:156,873,094...156,888,762
Ensembl chr  X:156,873,849...156,888,761
JBrowse link
G Avpr2 arginine vasopressin receptor 2 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 1, X-linked ClinVar PMID:28492532 NCBI chr  X:156,889,006...156,892,707
Ensembl chr  X:156,889,410...156,891,213
JBrowse link
G Dnase1l1 deoxyribonuclease 1-like 1 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 1, X-linked ClinVar PMID:28492532 NCBI chr  X:156,429,521...156,438,066
Ensembl chr  X:156,429,585...156,438,066
JBrowse link
G Emd emerin ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 1, X-linked ClinVar
OMIM
PMID:7894480 PMID:8589715 PMID:8595406 PMID:8595407 PMID:8595433 PMID:9195226 PMID:9384614 PMID:9472006 PMID:9536090 PMID:10323252 PMID:10382909 PMID:10382910 PMID:10393813 PMID:10399752 PMID:10480214 PMID:15967842 PMID:16080119 PMID:17067998 PMID:17620497 PMID:18646565 PMID:19997654 PMID:20474083 PMID:21520333 PMID:21697856 PMID:23169761 PMID:23349452 PMID:23395478 PMID:23785128 PMID:24033266 PMID:24365856 PMID:24375709 PMID:24503780 PMID:25030574 PMID:25210889 PMID:25741868 PMID:26187847 PMID:26247046 PMID:26415001 PMID:26467025 PMID:26675233 PMID:26899768 PMID:28492532 PMID:32860008 NCBI chr  X:156,452,847...156,455,858
Ensembl chr  X:156,452,818...156,456,035
JBrowse link
G Flna filamin A ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 1, X-linked ClinVar PMID:16080119 PMID:23169761 PMID:28492532 NCBI chr  X:156,460,785...156,487,245
Ensembl chr  X:156,463,953...156,487,245
JBrowse link
G Hcfc1 host cell factor C1 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 1, X-linked ClinVar PMID:28492532 NCBI chr  X:156,812,012...156,837,227
Ensembl chr  X:156,812,064...156,837,227
JBrowse link
G Idh3g isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 1, X-linked ClinVar PMID:28492532 NCBI chr  X:156,999,803...157,008,735
Ensembl chr  X:156,999,826...157,008,733
JBrowse link
G Irak1 interleukin-1 receptor-associated kinase 1 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 1, X-linked ClinVar PMID:28492532 NCBI chr  X:156,716,469...156,726,367
Ensembl chr  X:156,716,604...156,725,977
JBrowse link
G L1cam L1 cell adhesion molecule ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 1, X-linked ClinVar PMID:28492532 NCBI chr  X:156,901,244...156,928,064
Ensembl chr  X:156,909,913...156,928,057
JBrowse link
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Muscular dystrophy, tardive, Dreifuss-Emery type, with contractures ClinVar PMID:12920062 PMID:15140538 PMID:15205219 PMID:15475483 PMID:15998779 PMID:17377071 PMID:18414213 PMID:18549403 PMID:18795223 PMID:19318026 PMID:19424285 PMID:19427440 PMID:19589617 PMID:19638735 PMID:19680556 PMID:20848652 PMID:22918509 PMID:23183350 PMID:23861362 PMID:24001739 PMID:24033266 PMID:24055113 PMID:24721642 PMID:25214167 PMID:25637381 PMID:25741868 PMID:25786579 PMID:26332594 PMID:26467025 PMID:26602028 PMID:27854218 PMID:27896052 PMID:27919367 PMID:28074886 PMID:28255936 PMID:28492532 PMID:28663758 PMID:28785654 PMID:29791652 NCBI chr 2:187,842,884...187,863,552
Ensembl chr 2:187,842,885...187,863,516
JBrowse link
G Mecp2 methyl CpG binding protein 2 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 1, X-linked ClinVar PMID:28492532 NCBI chr  X:156,650,389...156,713,813
Ensembl chr  X:156,655,960...156,705,233
JBrowse link
G Naa10 N(alpha)-acetyltransferase 10, NatA catalytic subunit ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 1, X-linked ClinVar PMID:28492532 NCBI chr  X:156,863,655...156,868,950
Ensembl chr  X:156,863,754...156,868,950
JBrowse link
G Opn1mw opsin 1, medium wave sensitive ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 1, X-linked ClinVar PMID:28492532 NCBI chr  X:156,569,683...156,589,907
Ensembl chr  X:156,569,683...156,589,907
JBrowse link
G Pdzd4 PDZ domain containing 4 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 1, X-linked ClinVar PMID:28492532 NCBI chr  X:156,963,343...156,993,591
Ensembl chr  X:156,963,870...156,993,591
JBrowse link
G Plxnb3 plexin B3 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 1, X-linked ClinVar PMID:28492532 NCBI chr  X:157,015,297...157,030,147
Ensembl chr  X:157,015,305...157,028,434
JBrowse link
G Renbp renin binding protein ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 1, X-linked ClinVar PMID:28492532 NCBI chr  X:156,854,490...156,863,548
Ensembl chr  X:156,854,594...156,863,528
JBrowse link
G Rpl10 ribosomal protein L10 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 1, X-linked ClinVar PMID:28492532 NCBI chr  X:156,438,251...156,440,461
Ensembl chr  X:156,438,251...156,440,461
JBrowse link
G Srpk3 SRSF protein kinase 3 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 1, X-linked ClinVar PMID:28492532 NCBI chr  X:157,008,773...157,014,342
Ensembl chr  X:157,008,824...157,013,443
JBrowse link
G Ssr4 signal sequence receptor subunit 4 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 1, X-linked ClinVar PMID:28492532 NCBI chr  X:156,995,763...156,999,702
Ensembl chr  X:156,995,779...156,999,650
JBrowse link
G Taz tafazzin ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 1, X-linked ClinVar PMID:28492532 NCBI chr  X:156,421,006...156,429,461
Ensembl chr  X:156,421,009...156,428,593
JBrowse link
G Tex28 testis expressed 28 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 1, X-linked ClinVar PMID:28492532 NCBI chr  X:156,540,442...156,569,272
Ensembl chr  X:156,552,528...156,569,249
JBrowse link
G Tktl1 transketolase-like 1 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 1, X-linked ClinVar PMID:28492532 NCBI chr  X:156,507,797...156,540,733
Ensembl chr  X:156,507,797...156,540,733
JBrowse link
X-linked Emery-Dreifuss muscular dystrophy 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fhl1 four and a half LIM domains 1 ISO ClinVar Annotator: match by term: Myopathy with postural muscle atrophy, X-linked
ClinVar Annotator: match by synonym: Emery-dreifuss muscular dystrophy 6
ClinVar Annotator: match by OMIM:300696
OMIM
ClinVar
PMID:18179888 PMID:18179901 PMID:18274675 PMID:19171836 PMID:19181672 PMID:19377476 PMID:19687455 PMID:19716112 PMID:20186852 PMID:20571991 PMID:20633900 PMID:21520333 PMID:21629301 PMID:21683594 PMID:22094483 PMID:22523091 PMID:23169582 PMID:23965743 PMID:24114807 PMID:24634512 PMID:25191266 PMID:25246303 PMID:25274776 PMID:25741868 PMID:26467025 PMID:26627873 PMID:26857240 PMID:27443559 PMID:27532257 PMID:27841901 PMID:28492532 PMID:28611399 PMID:28694073 NCBI chr  X:159,112,516...159,172,528
Ensembl chr  X:159,112,880...159,172,524
JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Myopathy with postural muscle atrophy, X-linked ClinVar PMID:25741868 NCBI chr 3:63,565,160...63,837,815 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      musculoskeletal system disease 5799
        muscular disease 1218
          atrophic muscular disease 332
            muscular dystrophy 330
              Emery-Dreifuss muscular dystrophy 35
                X-Linked Dominant Scapuloperoneal Myopathy 1
                X-linked Emery-Dreifuss muscular dystrophy 1 23
                X-linked Emery-Dreifuss muscular dystrophy 6 2
                autosomal dominant Emery-Dreifuss muscular dystrophy 2 1
                autosomal dominant Emery-Dreifuss muscular dystrophy 4 2
                autosomal dominant Emery-Dreifuss muscular dystrophy 5 1
                autosomal dominant Emery-Dreifuss muscular dystrophy 7 1
                autosomal recessive Emery-Dreifuss muscular dystrophy 3 1
                scapuloperoneal myopathy + 3
Path 2
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      nervous system disease 10967
        peripheral nervous system disease 2498
          neuropathy 2319
            neuromuscular disease 1802
              muscular disease 1218
                muscle tissue disease 829
                  myopathy 683
                    muscular dystrophy 330
                      Emery-Dreifuss muscular dystrophy 35
                        X-Linked Dominant Scapuloperoneal Myopathy 1
                        X-linked Emery-Dreifuss muscular dystrophy 1 23
                        X-linked Emery-Dreifuss muscular dystrophy 6 2
                        autosomal dominant Emery-Dreifuss muscular dystrophy 2 1
                        autosomal dominant Emery-Dreifuss muscular dystrophy 4 2
                        autosomal dominant Emery-Dreifuss muscular dystrophy 5 1
                        autosomal dominant Emery-Dreifuss muscular dystrophy 7 1
                        autosomal recessive Emery-Dreifuss muscular dystrophy 3 1
                        scapuloperoneal myopathy + 3
paths to the root