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 59

Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

Orphanet 59 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.

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:

41
Skeletal Muscle

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. 38
30148687 2019
2
A novel treatment regimen for Duchenne muscular dystrophy. 38
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 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....