MCID: GNT125
MIFTS: 6

Genetic Skeletal Muscle Disease

Categories: Bone diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Genetic Skeletal Muscle Disease

MalaCards integrated aliases for Genetic Skeletal Muscle Disease:

Name: Genetic Skeletal Muscle Disease 58

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Orphanet 58 ORPHA206634

Summaries for Genetic Skeletal Muscle Disease

MalaCards based summary : Genetic Skeletal Muscle Disease is related to muscular dystrophy, congenital, megaconial type. Affiliated tissues include skeletal muscle and bone.

Related Diseases for Genetic Skeletal Muscle Disease

Diseases related to Genetic Skeletal Muscle Disease via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 muscular dystrophy, congenital, megaconial type 11.0

Symptoms & Phenotypes for Genetic Skeletal Muscle Disease

Drugs & Therapeutics for Genetic Skeletal Muscle Disease

Search Clinical Trials , NIH Clinical Center for Genetic Skeletal Muscle Disease

Genetic Tests for Genetic Skeletal Muscle Disease

Anatomical Context for Genetic Skeletal Muscle Disease

MalaCards organs/tissues related to Genetic Skeletal Muscle Disease:

40
Skeletal Muscle, Bone

Publications for Genetic Skeletal Muscle Disease

Articles related to Genetic Skeletal Muscle Disease:

# Title Authors PMID Year
1
Pathological Issues in Dystrophinopathy in the Age of Genetic Therapies. 61
30148687 2019
2
A novel treatment regimen for Duchenne muscular dystrophy. 61
24045777 2013

Variations for Genetic Skeletal Muscle Disease

Expression for Genetic Skeletal Muscle Disease

Search GEO for disease gene expression data for Genetic Skeletal Muscle Disease.

Pathways for Genetic Skeletal Muscle Disease

GO Terms for Genetic Skeletal Muscle Disease

Sources for Genetic Skeletal Muscle Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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