Emery-Dreifuss Muscular Dystrophy 1, X-Linked disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: EMR017 MIFTS: 30	Emery-Dreifuss Muscular Dystrophy 1, X-Linked Categories: Genetic diseases, Neuronal diseases, Muscle diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Download Expand all tables

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Aliases & Classifications for Emery-Dreifuss Muscular Dystrophy 1, X-Linked

MalaCards integrated aliases for Emery-Dreifuss Muscular Dystrophy 1, X-Linked:

Name: Emery-Dreifuss Muscular Dystrophy 1, X-Linked ⁵⁷ ⁷⁵ ²⁹ ¹³ ⁶

X-Linked Emery-Dreifuss Muscular Dystrophy ⁷⁵ ⁷³

Edmd1 ⁵⁷ ⁷⁵

Emd1 ⁵⁷ ⁷⁵

Muscular Dystrophy, Tardive, Dreifuss-Emery Type, with Contractures ⁵⁷

Muscular Dystrophy Tardive Dreifuss-Emery Type with Contractures ⁷⁵

Dystrophy, Muscular, Emery-Dreifuss, Type 1, X-Linked ⁴⁰

Humeroperoneal Neuromuscular Disease, Formerly ⁵⁷

Scapuloperoneal Syndrome, X-Linked, Formerly ⁵⁷

Humeroperoneal Neuromuscular Disease ⁷⁵

Scapuloperoneal Syndrome X-Linked ⁷⁵

X-Edmd ⁷⁵

Characteristics:

OMIM:

⁵⁷

Miscellaneous:
onset in childhood
adult onset has been rarely reported
risk of sudden death due to cardiac defects
female carriers may have cardiac defects

Inheritance:
x-linked recessive

HPO:

³²

emery-dreifuss muscular dystrophy 1, x-linked:
Onset and clinical course childhood onset slow progression juvenile onset
Inheritance x-linked recessive inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Neuronal diseases Muscle diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 310300

MedGen ⁴² C0751337 C2931858 CN069573

MeSH ⁴⁴ D020389

SNOMED-CT via HPO ⁶⁹ 298390003 40052002 391987005 more

UMLS ⁷³ C0751337

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Summaries for Emery-Dreifuss Muscular Dystrophy 1, X-Linked

OMIM : ⁵⁷ Emery-Dreifuss muscular dystrophy is a degenerative myopathy characterized by weakness and atrophy of muscle without involvement of the nervous system. Flexion deformities of the elbows dating from early childhood, mild pectus excavatum, signs of cardiac involvement and absence of muscle pseudohypertrophy, involvement of the forearm muscles, and mental retardation distinguish the Emery-Dreifuss form (EDMD1) from the Becker form (300376). (310300)

MalaCards based summary : Emery-Dreifuss Muscular Dystrophy 1, X-Linked, also known as x-linked emery-dreifuss muscular dystrophy, is related to emery-dreifuss muscular dystrophy and scapuloperoneal myopathy, x-linked dominant, and has symptoms including waddling gait An important gene associated with Emery-Dreifuss Muscular Dystrophy 1, X-Linked is EMD (Emerin). Affiliated tissues include skin and heart, and related phenotypes are pectus excavatum and sudden cardiac death

UniProtKB/Swiss-Prot : ⁷⁵ Emery-Dreifuss muscular dystrophy 1, X-linked: A form of Emery-Dreifuss muscular dystrophy, a degenerative myopathy characterized by weakness and atrophy of muscle without involvement of the nervous system, early contractures of the elbows, Achilles tendons and spine, and cardiomyopathy associated with cardiac conduction defects.

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Related Diseases for Emery-Dreifuss Muscular Dystrophy 1, X-Linked

Diseases in the Emery-Dreifuss Muscular Dystrophy, X-Linked family:

Emery-Dreifuss Muscular Dystrophy 1, X-Linked

Diseases related to Emery-Dreifuss Muscular Dystrophy 1, X-Linked via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score
1	emery-dreifuss muscular dystrophy	11.6
2	scapuloperoneal myopathy, x-linked dominant	11.2
3	myopathy, x-linked, with postural muscle atrophy	10.9
4	emery-dreifuss muscular dystrophy, x-linked	10.9
5	neuromuscular disease	10.0

Graphical network of the top 20 diseases related to Emery-Dreifuss Muscular Dystrophy 1, X-Linked:

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Symptoms & Phenotypes for Emery-Dreifuss Muscular Dystrophy 1, X-Linked

Symptoms via clinical synopsis from OMIM:

⁵⁷

Cardiovascular Heart:
atrioventricular block
cardiac conduction defects
atrial arrhythmias

Laboratory Abnormalities:
increased serum creatine kinase
atrial abnormalities on electrocardiogram
myopathy with type i fiber atrophy on muscle biopsy
absence of emerin by immunohistochemistry on muscle biopsy

Chest Ribs Sternum Clavicles And Scapulae:
pectus excavatum, mild

Skeletal Feet:
contractures of the achilles tendon

Neurologic Central Nervous System:
waddling gait
tendency to walk on toes

Skeletal Limbs:
contractures of the elbows

Head And Neck Neck:
contracture of post-cervical muscles

Muscle Soft Tissue:
slowly-progressive muscle wasting and weakness with humeroperoneal and scapuloperoneal distribution
absence of muscle pseudohypertrophy

Clinical features from OMIM:

310300

Human phenotypes related to Emery-Dreifuss Muscular Dystrophy 1, X-Linked:

³² (show all 11)

#	Description	HPO Source Accession
1	pectus excavatum ³²	HP:0000767
2	sudden cardiac death ³²	HP:0001645
3	atrioventricular block ³²	HP:0001678
4	elevated serum creatine phosphokinase ³²	HP:0003236
5	abnormality of the neck ³²	HP:0000464
6	waddling gait ³²	HP:0002515
7	elbow flexion contracture ³²	HP:0002987
8	achilles tendon contracture ³²	HP:0001771
9	decreased cervical spine flexion due to contractures of posterior cervical muscles ³²	HP:0004631
10	atrial arrhythmia ³²	HP:0001692
11	type 1 muscle fiber atrophy ³²	HP:0011807

UMLS symptoms related to Emery-Dreifuss Muscular Dystrophy 1, X-Linked:

waddling gait

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Drugs & Therapeutics for Emery-Dreifuss Muscular Dystrophy 1, X-Linked

Search Clinical Trials , NIH Clinical Center for Emery-Dreifuss Muscular Dystrophy 1, X-Linked

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Genetic Tests for Emery-Dreifuss Muscular Dystrophy 1, X-Linked

Genetic tests related to Emery-Dreifuss Muscular Dystrophy 1, X-Linked:

#	Genetic test	Affiliating Genes
1	Emery-Dreifuss Muscular Dystrophy 1, X-Linked ²⁹	EMD

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Anatomical Context for Emery-Dreifuss Muscular Dystrophy 1, X-Linked

MalaCards organs/tissues related to Emery-Dreifuss Muscular Dystrophy 1, X-Linked:

⁴¹

Skin, Heart

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Publications for Emery-Dreifuss Muscular Dystrophy 1, X-Linked

Articles related to Emery-Dreifuss Muscular Dystrophy 1, X-Linked:

(show all 31)

#	Title	Authors	Year
1	Abnormal proliferation and spontaneous differentiation of myoblasts from a symptomatic female carrier of X-linked Emery-Dreifuss muscular dystrophy. ( 25454731 )	Meinke P....Walter M.C.	2015
2	Abnormal proliferation and spontaneous differentiation of myoblasts from a symptomatic female carrier of X-linked Emery-Dreifuss muscular dystrophy. ( 25542668 )	Morris G.E.	2015
3	Cardiac and muscle imaging findings in a family with X-linked Emery-Dreifuss muscular dystrophy. ( 21993399 )	Carboni N....Marrosu M.G.	2012
4	Ventricular arrhythmia in X-linked Emery-Dreifuss muscular dystrophy: a lesson from an autopsy case. ( 21372459 )	Ishikawa K....Tanaka T.	2011
5	X-linked Emery-Dreifuss muscular dystrophy with lamin A deficiency and IBM inclusions. ( 20175956 )	Fidzianska A....Wehnert M.	2010
6	Early onset of cardiomyopathy and primary prevention of sudden death in X-linked Emery-Dreifuss muscular dystrophy. ( 20149661 )	Nigro G....Politano L.	2010
7	Distinct functional domains in nesprin-1alpha and nesprin-2beta bind directly to emerin and both interactions are disrupted in X-linked Emery-Dreifuss muscular dystrophy. ( 17462627 )	Wheeler M.A....Ellis J.A.	2007
8	X-linked Emery-Dreifuss muscular dystrophy and vacuoles: an immunohistochemical characterization. ( 15880484 )	Paradas C....Illa I.	2005
9	The screening for X-linked Emery-Dreifuss muscular dystrophy amongst young patients with idiopathic heart conduction system disease treated by a pacemaker implant. ( 15272897 )	Vytopil M....Lukas Z.	2004
10	CDNA microarray analysis of gene expression in fibroblasts of patients with X-linked Emery-Dreifuss muscular dystrophy. ( 12115980 )	Tsukahara T....Arahata K.	2002
11	Increased solubility of lamins and redistribution of lamin C in X-linked Emery-Dreifuss muscular dystrophy fibroblasts. ( 12490172 )	Markiewicz E....Hutchison C.	2002
12	Early onset of cardiomyopathy in two brothers with X-linked Emery-Dreifuss muscular dystrophy. ( 12398842 )	Talkop U.A....Talvik T.	2002
13	A mutation in the X-linked Emery-Dreifuss muscular dystrophy gene in a patient affected with conduction cardiomyopathy. ( 11369194 )	Vohanka S....Toniolo D.	2001
14	Structural analysis of emerin, an inner nuclear membrane protein mutated in X-linked Emery-Dreifuss muscular dystrophy. ( 11470279 )	Wolff N....Zinn-Justin S.	2001
15	Unusual expression of emerin in a patient with X-linked Emery-Dreifuss muscular dystrophy. ( 11053683 )	Di Blasi C....Mora M.	2000
16	Clinical variability and molecular diagnosis in a four-generation family with X-linked Emery-Dreifuss muscular dystrophy. ( 11063761 )	Canki-Klain N....Zurak N.	2000
17	Severe clinical expression in X-linked Emery-Dreifuss muscular dystrophy. ( 10382910 )	Hoeltzenbein M....Wehnert M.S.	1999
18	Changes at P183 of emerin weaken its protein-protein interactions resulting in X-linked Emery-Dreifuss muscular dystrophy. ( 10323252 )	Ellis J.A....Brown C.A.	1999
19	Genotype-phenotype analysis in X-linked Emery-Dreifuss muscular dystrophy and identification of a missense mutation associated with a milder phenotype. ( 10382909 )	Yates J.R....Ellis J.A.	1999
20	Nuclear changes in a case of X-linked Emery-Dreifuss muscular dystrophy. ( 10398203 )	Ognibene A....Maraldi N.M.	1999
21	Early onset of X-linked Emery-Dreifuss muscular dystrophy in a boy with emerin gene deletion. ( 10480214 )	Fujimoto S....Nonaka I.	1999
22	60th ENMC International Workshop: non X-linked Emery-Dreifuss Muscular Dystrophy 5-7 June 1998, Naarden, The Netherlands. ( 10220867 )	Wehnert M....Muntoni F.	1999
23	Oral exfoliative cytology for the non-invasive diagnosis in X-linked Emery-Dreifuss muscular dystrophy patients and carriers. ( 9608558 )	Sabatelli P....Maraldi N.M.	1998
24	Early presentation of X-linked Emery-Dreifuss muscular dystrophy resembling limb-girdle muscular dystrophy. ( 9608559 )	Muntoni F....Dubowitz V.	1998
25	Six novel mutations in the emerin gene causing X-linked Emery-Dreifuss muscular dystrophy. ( 9195226 )	Wulff K....Wehnert M.	1997
26	Direct molecular genetic diagnosis and heterozygote identification in X-linked Emery-Dreifuss muscular dystrophy by heteroduplex analysis. ( 9160182 )	Wulff K....Wehnert M.	1997
27	Diagnosis of X-linked Emery-Dreifuss muscular dystrophy by protein analysis of leucocytes and skin with monoclonal antibodies. ( 9132142 )	Manilal S....Morris G.E.	1997
28	X-linked Emery-Dreifuss muscular dystrophy can be diagnosed from skin biopsy or blood sample. ( 9266737 )	Mora M....Toniolo D.	1997
29	Sudden death of a carrier of X-linked Emery-Dreifuss muscular dystrophy. ( 8215002 )	Fishbein M.C....Hopkins L.C.	1993
30	Evidence supporting tight linkage of X-linked Emery-Dreifuss muscular dystrophy to the factor VIII:C gene. ( 1686773 )	Wehnert M....Herrmann F.H.	1991
31	Benign X-linked (Emery-Dreifuss) muscular dystrophy is not benign. ( 2440002 )	Wyse D.G....Brownell A.K.	1987

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Genes for Emery-Dreifuss Muscular Dystrophy 1, X-Linked

Genes related to Emery-Dreifuss Muscular Dystrophy 1, X-Linked (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	EMD	Emerin	Protein Coding	1355.55	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁵ Genetic Tests ²⁹ Pathogenic/Likely pathogenic ⁶ GeneCards inferred via : Disorders Variants (show sections)	20301609

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Variations for Emery-Dreifuss Muscular Dystrophy 1, X-Linked

UniProtKB/Swiss-Prot genetic disease variations for Emery-Dreifuss Muscular Dystrophy 1, X-Linked:

⁷⁵

#	Symbol	AA change	Variation ID	SNP ID
1	EMD	p.Ser54Phe	VAR_005198
2	EMD	p.Pro183His	VAR_005199	rs104894805
3	EMD	p.Pro183Thr	VAR_005200	rs104894806
4	EMD	p.Gln133His	VAR_016016

ClinVar genetic disease variations for Emery-Dreifuss Muscular Dystrophy 1, X-Linked:

⁶

(show top 50) (show all 79)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	EMD	NM_000117.2(EMD): c.284_298delATGAAGAGAGCTACT (p.Tyr95_Tyr99del)	deletion	Likely pathogenic	rs398123156	GRCh37	Chromosome X, 153608612: 153608626
2	EMD	NM_000117.2(EMD): c.284_298delATGAAGAGAGCTACT (p.Tyr95_Tyr99del)	deletion	Likely pathogenic	rs398123156	GRCh38	Chromosome X, 154380252: 154380266
3	EMD	NM_000117.2(EMD): c.598T> C (p.Trp200Arg)	single nucleotide variant	Uncertain significance	rs374981936	GRCh37	Chromosome X, 153609390: 153609390
4	EMD	NM_000117.2(EMD): c.598T> C (p.Trp200Arg)	single nucleotide variant	Uncertain significance	rs374981936	GRCh38	Chromosome X, 154381030: 154381030
5	EMD	NM_000117.2(EMD): c.70G> A (p.Gly24Arg)	single nucleotide variant	Uncertain significance	rs727504628	GRCh37	Chromosome X, 153607914: 153607914
6	EMD	NM_000117.2(EMD): c.70G> A (p.Gly24Arg)	single nucleotide variant	Uncertain significance	rs727504628	GRCh38	Chromosome X, 154379554: 154379554
7	EMD	NM_000117.2(EMD): c.454C> T (p.Arg152Cys)	single nucleotide variant	Uncertain significance	rs376456050	GRCh37	Chromosome X, 153609246: 153609246
8	EMD	NM_000117.2(EMD): c.454C> T (p.Arg152Cys)	single nucleotide variant	Uncertain significance	rs376456050	GRCh38	Chromosome X, 154380886: 154380886
9	EMD	NM_000117.2(EMD): c.103G> A (p.Glu35Lys)	single nucleotide variant	Uncertain significance	rs782222974	GRCh37	Chromosome X, 153608070: 153608070
10	EMD	NM_000117.2(EMD): c.103G> A (p.Glu35Lys)	single nucleotide variant	Uncertain significance	rs782222974	GRCh38	Chromosome X, 154379710: 154379710
11	EMD	NM_000117.2(EMD): c.466G> A (p.Gly156Ser)	single nucleotide variant	Likely benign	rs144594695	GRCh37	Chromosome X, 153609258: 153609258
12	EMD	NM_000117.2(EMD): c.466G> A (p.Gly156Ser)	single nucleotide variant	Likely benign	rs144594695	GRCh38	Chromosome X, 154380898: 154380898
13	EMD	NM_000117.2(EMD): c.608G> A (p.Arg203His)	single nucleotide variant	Uncertain significance	rs144842093	GRCh37	Chromosome X, 153609400: 153609400
14	EMD	NM_000117.2(EMD): c.608G> A (p.Arg203His)	single nucleotide variant	Uncertain significance	rs144842093	GRCh38	Chromosome X, 154381040: 154381040
15	EMD	NM_000117.2(EMD): c.610C> T (p.Arg204Cys)	single nucleotide variant	Uncertain significance	rs782299893	GRCh37	Chromosome X, 153609402: 153609402
16	EMD	NM_000117.2(EMD): c.610C> T (p.Arg204Cys)	single nucleotide variant	Uncertain significance	rs782299893	GRCh38	Chromosome X, 154381042: 154381042
17	EMD	NM_000117.2(EMD): c.671C> T (p.Pro224Leu)	single nucleotide variant	Uncertain significance	rs782559230	GRCh37	Chromosome X, 153609463: 153609463
18	EMD	NM_000117.2(EMD): c.671C> T (p.Pro224Leu)	single nucleotide variant	Uncertain significance	rs782559230	GRCh38	Chromosome X, 154381103: 154381103
19	EMD	NM_000117.2(EMD): c.400-9C> T	single nucleotide variant	Conflicting interpretations of pathogenicity	rs782061626	GRCh38	Chromosome X, 154380744: 154380744
20	EMD	NM_000117.2(EMD): c.400-9C> T	single nucleotide variant	Conflicting interpretations of pathogenicity	rs782061626	GRCh37	Chromosome X, 153609104: 153609104
21	EMD	NM_000117.2(EMD): c.57C> T (p.Tyr19=)	single nucleotide variant	Likely benign	rs371661299	GRCh37	Chromosome X, 153607901: 153607901
22	EMD	NM_000117.2(EMD): c.57C> T (p.Tyr19=)	single nucleotide variant	Likely benign	rs371661299	GRCh38	Chromosome X, 154379541: 154379541
23	EMD	NM_000117.2(EMD): c.-248_*326dup1339	duplication	Uncertain significance		GRCh38	Chromosome X, 154379237: 154381523
24	EMD	NM_000117.2(EMD): c.-248_*326dup1339	duplication	Uncertain significance		GRCh37	Chromosome X, 153607597: 153609883
25	EMD	NM_000117.2(EMD): c.428C> T (p.Ser143Phe)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs139983160	GRCh38	Chromosome X, 154380781: 154380781
26	EMD	NM_000117.2(EMD): c.428C> T (p.Ser143Phe)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs139983160	GRCh37	Chromosome X, 153609141: 153609141
27	EMD	NM_000117.2(EMD): c.445G> C (p.Asp149His)	single nucleotide variant	Benign	rs2070818	GRCh37	Chromosome X, 153609158: 153609158
28	EMD	NM_000117.2(EMD): c.445G> C (p.Asp149His)	single nucleotide variant	Benign	rs2070818	GRCh38	Chromosome X, 154380798: 154380798
29	EMD	NM_000117.2(EMD): c.60delC (p.Asn20Lysfs)	deletion	Pathogenic/Likely pathogenic	rs886041854	GRCh37	Chromosome X, 153607904: 153607904
30	EMD	NM_000117.2(EMD): c.60delC (p.Asn20Lysfs)	deletion	Pathogenic/Likely pathogenic	rs886041854	GRCh38	Chromosome X, 154379544: 154379544
31	EMD	NM_000117.2(EMD): c.3G> A (p.Met1Ile)	single nucleotide variant	Pathogenic	rs886044771	GRCh37	Chromosome X, 153607847: 153607847
32	EMD	NM_000117.2(EMD): c.3G> A (p.Met1Ile)	single nucleotide variant	Pathogenic	rs886044771	GRCh38	Chromosome X, 154379487: 154379487
33	EMD	NM_000117.2(EMD): c.525C> T (p.Ser175=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs782367505	GRCh37	Chromosome X, 153609317: 153609317
34	EMD	NM_000117.2(EMD): c.525C> T (p.Ser175=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs782367505	GRCh38	Chromosome X, 154380957: 154380957
35	EMD	NM_000117.2(EMD): c.502C> T (p.Arg168Cys)	single nucleotide variant	Uncertain significance	rs886044839	GRCh37	Chromosome X, 153609294: 153609294
36	EMD	NM_000117.2(EMD): c.502C> T (p.Arg168Cys)	single nucleotide variant	Uncertain significance	rs886044839	GRCh38	Chromosome X, 154380934: 154380934
37	EMD	NM_000117.2(EMD): c.512C> A (p.Ser171Ter)	single nucleotide variant	Pathogenic	rs886044901	GRCh37	Chromosome X, 153609304: 153609304
38	EMD	NM_000117.2(EMD): c.512C> A (p.Ser171Ter)	single nucleotide variant	Pathogenic	rs886044901	GRCh38	Chromosome X, 154380944: 154380944
39	EMD	NM_000117.2(EMD): c.12C> T (p.Tyr4=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs782011714	GRCh37	Chromosome X, 153607856: 153607856
40	EMD	NM_000117.2(EMD): c.12C> T (p.Tyr4=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs782011714	GRCh38	Chromosome X, 154379496: 154379496
41	EMD	NM_000117.2(EMD): c.166G> A (p.Ala56Thr)	single nucleotide variant	Uncertain significance	rs1057520579	GRCh37	Chromosome X, 153608133: 153608133
42	EMD	NM_000117.2(EMD): c.166G> A (p.Ala56Thr)	single nucleotide variant	Uncertain significance	rs1057520579	GRCh38	Chromosome X, 154379773: 154379773
43	EMD	NM_000117.2(EMD): c.432A> G (p.Glu144=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs377125466	GRCh38	Chromosome X, 154380785: 154380785
44	EMD	NM_000117.2(EMD): c.432A> G (p.Glu144=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs377125466	GRCh37	Chromosome X, 153609145: 153609145
45	EMD	NM_000117.2(EMD): c.489C> T (p.Ser163=)	single nucleotide variant	Likely benign	rs782558454	GRCh38	Chromosome X, 154380921: 154380921
46	EMD	NM_000117.2(EMD): c.489C> T (p.Ser163=)	single nucleotide variant	Likely benign	rs782558454	GRCh37	Chromosome X, 153609281: 153609281
47	EMD	NM_000117.2(EMD): c.123C> A (p.Tyr41Ter)	single nucleotide variant	Pathogenic	rs1060502612	GRCh38	Chromosome X, 154379730: 154379730
48	EMD	NM_000117.2(EMD): c.123C> A (p.Tyr41Ter)	single nucleotide variant	Pathogenic	rs1060502612	GRCh37	Chromosome X, 153608090: 153608090
49	EMD	NC_000023.10: g.(?_154379237)_(154381523_?)del	deletion	Pathogenic		GRCh37	Chromosome X, 154379237: 154381523
50	EMD	NM_000117.2(EMD): c.674_678delTCTGG (p.Leu225Argfs)	deletion	Pathogenic		GRCh38	Chromosome X, 154381106: 154381110

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Expression for Emery-Dreifuss Muscular Dystrophy 1, X-Linked

Search GEO for disease gene expression data for Emery-Dreifuss Muscular Dystrophy 1, X-Linked.

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Pathways for Emery-Dreifuss Muscular Dystrophy 1, X-Linked

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GO Terms for Emery-Dreifuss Muscular Dystrophy 1, X-Linked

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