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 57 13 73
Emwx 57

Characteristics:

HPO:

32
episodic muscle weakness, x-linked:
Inheritance x-linked inheritance


External Ids:

OMIM 57 300211
MedGen 42 C1846173
SNOMED-CT via HPO 69 26544005 263934009
UMLS 73 C1846173

Summaries for Episodic Muscle Weakness, X-Linked

MalaCards based summary : Episodic Muscle Weakness, X-Linked, also known as emwx, is related to perrault syndrome 1, 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 perrault syndrome 1 11.1

Symptoms & Phenotypes for Episodic Muscle Weakness, X-Linked

Clinical features from OMIM:

300211

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

32
# Description HPO Frequency HPO Source Accession
1 muscle weakness 32 obligate (100%) HP:0001324

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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