MCID: SRV001
MIFTS: 23

Survival Motor Neuron Spinal Muscular Atrophy

Categories: Muscle diseases, Neuronal 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 14
Spinal Muscular Atrophies of Childhood 12 41

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 cell projection GO:0042995 9.67 MAP1B SMN1 SMN2 ZPR1
2 neuronal cell body GO:0043025 9.61 MAP1B NAIP ZPR1
3 neuron projection GO:0043005 9.58 NAIP SMN1 SMN2
4 Z disc GO:0030018 9.48 SMN1 SMN2
5 cytoplasmic ribonucleoprotein granule GO:0036464 9.46 SMN1 SMN2
6 perikaryon GO:0043204 9.46 NAIP SMN1 SMN2 ZPR1
7 Cajal body GO:0015030 9.43 SMN1 SMN2 ZPR1
8 SMN-Sm protein complex GO:0034719 9.32 SMN1 SMN2
9 SMN complex GO:0032797 9.13 SMN1 SMN2 ZPR1
10 Gemini of coiled bodies GO:0097504 8.8 SMN1 SMN2 ZPR1

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

# Name GO ID Score Top Affiliating Genes
1 mRNA processing GO:0006397 9.58 SMN1 SMN2 ZPR1
2 RNA splicing GO:0008380 9.54 SMN1 SMN2 ZPR1
3 spliceosomal snRNP assembly GO:0000387 9.32 SMN1 SMN2
4 spliceosomal complex assembly GO:0000245 9.26 SMN1 SMN2
5 nervous system development GO:0007399 9.26 MAP1B NAIP SMN1 SMN2
6 nuclear import GO:0051170 9.16 SMN1 SMN2
7 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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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