(Q1335642)

health specialty

neurology

1 reference

symptoms and signs

muscle weakness

1 reference

heart arrhythmia

1 reference

creatine kinase measurement

medical examination

genetic testing

0 references

echocardiography

0 references

0 references

0 references

0 references

0 references

1 reference

Nesprin-1 and -2 are involved in the pathogenesis of Emery Dreifuss muscular dystrophy and are critical for nuclear envelope integrity

SYNE2

1 reference

Nesprin-1 and -2 are involved in the pathogenesis of Emery Dreifuss muscular dystrophy and are critical for nuclear envelope integrity

FHL1

1 reference

An X-linked myopathy with postural muscle atrophy and generalized hypertrophy, termed XMPMA, is caused by mutations in FHL1

LMNA

3 references

Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy.

Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy

https://platform.opentargets.org/evidence/ENSG00000160789/MONDO_0016830

Open Targets Platform

retrieved

24 August 2023

reference URL

based on heuristic

inferred from an Open Targets association score over 0.7

EMD

1 reference

Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy

TMEM43

1 reference

TMEM43 mutations in Emery-Dreifuss muscular dystrophy-related myopathy

on focus list of Wikimedia project

0 references

0.000004

1 reference

Prevalence of muscular dystrophies: a systematic literature review

NCI Thesaurus ID

C84685

1 reference

15 May 2019

C84685

1 reference

http://purl.obolibrary.org/obo/DOID_11726

7 August 2018

1 reference

29 November 2020

http://identifiers.org/doid/DOID:11726

1 reference

https://registry.identifiers.org/registry/doid

Identifiers.org

reference URL

http://www.orpha.net/ORDO/Orphanet_261

0 references

http://www.orpha.net/ORDO/Orphanet_98853

0 references

http://www.orpha.net/ORDO/Orphanet_98855

0 references

http://www.orpha.net/ORDO/Orphanet_98863

0 references

Identifiers

MeSH descriptor ID

D020389

subject named as

Muscular Dystrophy, Emery-Dreifuss

1 reference

7 August 2018

0 references

C10.668.491.175.500.350

0 references

0 references

0 references

0 references

1 reference

29 November 2020

1 reference

33543

1 reference

31704

1 reference

0 references

1 reference

28 October 2013

1 reference

15 May 2019

1 reference

NBK1379

1 reference

1 reference

7 August 2018

0 references

8C70.2

Emery-Dreifuss muscular dystrophy

0 references

ICD-9 ID

359.0

1 reference

359.1

1 reference

Microsoft Academic ID

0 references

0 references

1 reference

15 May 2019

2 references

Orphanet Rare Disease Ontology

7 August 2018

reference URL

https://www.orpha.net/consor/cgi-bin//OC_Exp.php?lng=EN&Expert=261

SNOMED CT ID

129620000

1 reference

https://en.wikipedia.org/w/index.php?title=Emery–Dreifuss_muscular_dystrophy&oldid=951435821

Wikimedia import URL

UMLS CUI

C0410189

1 reference