MCID: SRV001
MIFTS: 22

Survival Motor Neuron Spinal Muscular Atrophy

Categories: Neuronal diseases, Muscle diseases

Aliases & Classifications for Survival Motor Neuron Spinal Muscular Atrophy

MalaCards integrated aliases for Survival Motor Neuron Spinal Muscular Atrophy:

Name: Survival Motor Neuron Spinal Muscular Atrophy 12 15
Spinal Muscular Atrophies of Childhood 12 44

Classifications:



Summaries for Survival Motor Neuron Spinal Muscular Atrophy

Disease Ontology : 12 A spinal muscular atrophy that is associated with the survival of motor neuron protein.

MalaCards based summary : Survival Motor Neuron Spinal Muscular Atrophy, also known as spinal muscular atrophies of childhood, is related to juvenile spinal muscular atrophy and proximal spinal muscular atrophy. An important gene associated with Survival Motor Neuron Spinal Muscular Atrophy is SMN1 (Survival Of Motor Neuron 1, Telomeric).

Related Diseases for Survival Motor Neuron Spinal Muscular Atrophy

Graphical network of the top 20 diseases related to Survival Motor Neuron Spinal Muscular Atrophy:



Diseases related to Survival Motor Neuron Spinal Muscular Atrophy

Symptoms & Phenotypes for Survival Motor Neuron Spinal Muscular Atrophy

Drugs & Therapeutics for Survival Motor Neuron Spinal Muscular Atrophy

Search Clinical Trials , NIH Clinical Center for Survival Motor Neuron Spinal Muscular Atrophy

Cochrane evidence based reviews: spinal muscular atrophies of childhood

Genetic Tests for Survival Motor Neuron Spinal Muscular Atrophy

Anatomical Context for Survival Motor Neuron Spinal Muscular Atrophy

Publications for Survival Motor Neuron Spinal Muscular Atrophy

Articles related to Survival Motor Neuron Spinal Muscular Atrophy:

# Title Authors Year
1
Spinal muscular atrophy of childhood at the edge of the centuries. ( 11996521 )
2001
2
Chronic proximal spinal muscular atrophy of childhood and adolescence: problems of classification and genetic counselling. ( 4078864 )
1985
3
Chronic proximal spinal muscular atrophy of childhood and adolescence: sex influence. ( 6512833 )
1984

Variations for Survival Motor Neuron Spinal Muscular Atrophy

Expression for Survival Motor Neuron Spinal Muscular Atrophy

Search GEO for disease gene expression data for Survival Motor Neuron Spinal Muscular Atrophy.

Pathways for Survival Motor Neuron Spinal Muscular Atrophy

GO Terms for Survival Motor Neuron Spinal Muscular Atrophy

Cellular components related to Survival Motor Neuron Spinal Muscular Atrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 neuron projection GO:0043005 9.54 NAIP SMN1 SMN2
2 Z disc GO:0030018 9.43 SMN1 SMN2
3 cytoplasmic ribonucleoprotein granule GO:0036464 9.4 SMN1 SMN2
4 Cajal body GO:0015030 9.32 SMN1 SMN2
5 SMN-Sm protein complex GO:0034719 9.26 SMN1 SMN2
6 SMN complex GO:0032797 9.16 SMN1 SMN2
7 Gemini of coiled bodies GO:0097504 8.96 SMN1 SMN2
8 perikaryon GO:0043204 8.8 NAIP SMN1 SMN2

Biological processes related to Survival Motor Neuron Spinal Muscular Atrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 spliceosomal complex assembly GO:0000245 9.32 SMN1 SMN2
2 spliceosomal snRNP assembly GO:0000387 9.26 SMN1 SMN2
3 nervous system development GO:0007399 9.26 MAP1B NAIP SMN1 SMN2
4 import into nucleus GO:0051170 9.16 SMN1 SMN2
5 DNA-templated transcription, termination GO:0006353 8.62 SMN1 SMN2

Sources for Survival Motor Neuron Spinal Muscular Atrophy

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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