EMWX
MCID: EPS012
MIFTS: 8

Episodic Muscle Weakness, X-Linked (EMWX)

Aliases & Classifications for Episodic Muscle Weakness, X-Linked

MalaCards integrated aliases for Episodic Muscle Weakness, X-Linked:

Name: Episodic Muscle Weakness, X-Linked 58 13 74
Emwx 58

Characteristics:

HPO:

33
episodic muscle weakness, x-linked:
Inheritance x-linked inheritance


External Ids:

OMIM 58 300211
MedGen 43 C1846173
SNOMED-CT via HPO 70 263934009 26544005
UMLS 74 C1846173

Summaries for Episodic Muscle Weakness, X-Linked

MalaCards based summary : Episodic Muscle Weakness, X-Linked, also known as emwx, is related to cone-rod dystrophy and hearing loss 2, and has symptoms including muscle weakness An important gene associated with Episodic Muscle Weakness, X-Linked is EMWX (Episodic Muscle Weakness, X-Linked). Related phenotype is muscle weakness.

Description from OMIM: 300211

Related Diseases for Episodic Muscle Weakness, X-Linked

Diseases related to Episodic Muscle Weakness, X-Linked via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 cone-rod dystrophy and hearing loss 2 11.1

Symptoms & Phenotypes for Episodic Muscle Weakness, X-Linked

Human phenotypes related to Episodic Muscle Weakness, X-Linked:

33
# Description HPO Frequency HPO Source Accession
1 muscle weakness 33 obligate (100%) HP:0001324

Clinical features from OMIM:

300211

UMLS symptoms related to Episodic Muscle Weakness, X-Linked:


muscle weakness

Drugs & Therapeutics for Episodic Muscle Weakness, X-Linked

Search Clinical Trials , NIH Clinical Center for Episodic Muscle Weakness, X-Linked

Genetic Tests for Episodic Muscle Weakness, X-Linked

Anatomical Context for Episodic Muscle Weakness, X-Linked

Publications for Episodic Muscle Weakness, X-Linked

Variations for Episodic Muscle Weakness, X-Linked

Expression for Episodic Muscle Weakness, X-Linked

Search GEO for disease gene expression data for Episodic Muscle Weakness, X-Linked.

Pathways for Episodic Muscle Weakness, X-Linked

GO Terms for Episodic Muscle Weakness, X-Linked

Sources for Episodic Muscle Weakness, X-Linked

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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