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: X-linked Emery-Dreifuss muscular dystrophy 1
Accession: DOID:0070246
browse the term
Definition: An Emery-Dreifuss muscular dystrophy that has_material_basis_in an X-linked recessive mutation of EMD on chromosome Xq28. (DO)
Synonyms: exact_synonym: EDMD1; EMD1; Emery-Dreifuss muscular dystrophy 1; X-linked scapuloperoneal syndrome; tardive muscular dystrophy, Dreifuss-Emery type, with contractures
primary_id: MESH:C535734
alt_id: OMIM:310300
xref: NCI:C168730
For additional species annotation, visit the
Alliance of Genome Resources .
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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
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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
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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
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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
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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:8655156 PMID:9195226 PMID:9384614 PMID:9472006 PMID:9536090 PMID:9536098 PMID:10323252 PMID:10382909 PMID:10382910 PMID:10393813 PMID:10399752 PMID:10480214 PMID:15967842 PMID:16080119 PMID:17067998 PMID:17576681 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
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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
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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
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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
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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
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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
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Lmna
lamin A/C
ISO
ClinVar Annotator: match by term: Muscular dystrophy, tardive, Dreifuss-Emery type, with contractures
ClinVar
PMID:12376891 PMID:12467752 PMID:12920062 PMID:14597414 PMID:15140538 PMID:15372542 PMID:15475483 PMID:15998779 PMID:17107595 PMID:17377071 PMID:18414213 PMID:18549403 PMID:18795223 PMID:19318026 PMID:19424285 PMID:19427440 PMID:19524666 PMID:19589617 PMID:19638735 PMID:19680556 PMID:20848652 PMID:21465660 PMID:22918509 PMID:23183350 PMID:23861362 PMID:23977161 PMID:24001739 PMID:24033266 PMID:24055113 PMID:24623722 PMID:24721642 PMID:24794538 PMID:25214167 PMID:25448463 PMID:25637381 PMID:25741868 PMID:26332594 PMID:26467025 PMID:26602028 PMID:27896052 PMID:27919367 PMID:28074886 PMID:28255936 PMID:28492532 PMID:28531892 PMID:28663758 PMID:28785654 PMID:29791652
NCBI chr 2:187,842,884...187,863,552
Ensembl chr 2:187,842,885...187,863,516
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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
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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
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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
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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
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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
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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
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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
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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
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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
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Tafazzin
tafazzin, phospholipid-lysophospholipid transacylase
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
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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
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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
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