SMA2
MCID: SPN395
MIFTS: 47

Spinal Muscular Atrophy, Type Ii (SMA2)

Categories: Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Spinal Muscular Atrophy, Type Ii

MalaCards integrated aliases for Spinal Muscular Atrophy, Type Ii:

Name: Spinal Muscular Atrophy, Type Ii 57 29 6
Sma Ii 57 53 74 55
Sma2 57 53 59 74
Muscular Atrophy, Spinal, Infantile Chronic Form 57 12 53
Muscular Atrophy, Spinal, Intermediate Type 57 12 53
Intermediate Spinal Muscular Atrophy 12 59 15
Spinal Muscular Atrophy Type Ii 53 74
Spinal Muscular Atrophy-2 57 13
Spinal Muscular Atrophy Infantile Chronic Form 74
Chronic Infantile Spinal Muscular Atrophy 59
Spinal Muscular Atrophy Intermediate Type 74
Proximal Spinal Muscular Atrophy Type 2 59
Atrophy, Muscular, Spinal, Type Ii 40
Muscular Atrophy, Spinal, Type Ii 72
Chronic Spinal Muscular Atrophy 59
Spinal Muscular Atrophy Type 2 53
Spinal Muscular Atrophy 2 74
Dubowitz Disease 53
Sma Type Ii 59
Sma Type 2 59
Sma-Ii 59

Characteristics:

Orphanet epidemiological data:

59
proximal spinal muscular atrophy type 2
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
presentation between 6-18 months
death between 2 years of age and young adulthood
death secondary to respiratory infection or failure
child often can sit unsupported but never ambulates
deletions in naip gene () found in 18% of smaii patients


HPO:

32
spinal muscular atrophy, type ii:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0050530
OMIM 57 253550
MeSH 44 D014897
ICD10 via Orphanet 34 G12.1
UMLS via Orphanet 73 C0393538 C2931358
Orphanet 59 ORPHA83418
UMLS 72 C0393538

Summaries for Spinal Muscular Atrophy, Type Ii

NIH Rare Diseases : 53 Spinal muscular atrophy type 2 (SMA2) is a genetic neuromuscular disorder that affects the nerve cells that control voluntary muscles (motor neurons). Without treatment, progressive muscle weakness develops in babies with SMA2 between ages 6 and 12 months. Babies with SMA2 can sit without support, however, they cannot stand or walk independently. Feeding and breathing problems also develop. SMA2 is caused by changes (pathogenic variants also called mutations) in the SMN1 gene and is inherited in an autosomal recessive manner. Diagnosis of SMA2 is suspected by symptoms and confirmed by genetic testing. SMA has been added to the list of recommended newborn screening tests in the United States, so that it can be detected prior to symptoms developing. This occurred because treatments are being developed that are changing the course of the disease. In December 2016, nusinersen (Spinraza) became the first FDA approved treatment for SMA2. Continued treatment with nusinersen is allowing many babies and children with SMA2 to reach and maintain age appropriate developmental milestones, including sitting, crawling, and walking. Breathing problems, nutrition problems, and hospital admissions also decrease in general. However, response to treatment does vary. Some children with SMA2 may not respond to the nusinersen at all or may have medical complications that prevent use of the treatment. Other treatments remain supportive.

MalaCards based summary : Spinal Muscular Atrophy, Type Ii, also known as sma ii, is related to spinal muscular atrophy and spinal muscular atrophy, type iii, and has symptoms including tremor of hands An important gene associated with Spinal Muscular Atrophy, Type Ii is SMN1 (Survival Of Motor Neuron 1, Telomeric), and among its related pathways/superpathways is RNA transport. The drugs Acetaminophen and Analgesics, Non-Narcotic have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, testes and tongue, and related phenotypes are muscle weakness and recurrent respiratory infections

Disease Ontology : 12 A survival motor neuron spinal muscular atrophy that is characterized by progressive muscular weakness and respiratory failure that typically presents in infancy and drastically reduces length of life, has material basis in mutations in the SMN1 or SMN2 genes that are required for the survival of motor neurons.

OMIM : 57 Spinal muscular atrophy refers to a group of autosomal recessive neuromuscular disorders characterized by degeneration of the anterior horn cells of the spinal cord, leading to symmetric muscle weakness and atrophy (summary by Wirth, 2000). (253550)

UniProtKB/Swiss-Prot : 74 Spinal muscular atrophy 2: An autosomal recessive form of spinal muscular atrophy, a neuromuscular disorder characterized by degeneration of the anterior horn cells of the spinal cord, leading to symmetrical muscle weakness and atrophy. It has intermediate severity, with onset between 6 and 18 months. Patients do not reach the motor milestone of standing, and survive into adulthood.

Related Diseases for Spinal Muscular Atrophy, Type Ii

Diseases in the Spinal Muscular Atrophy family:

Spinal Muscular Atrophy, Type I Spinal Muscular Atrophy, Type Iii
Spinal Muscular Atrophy, Type Ii Spinal Muscular Atrophy, Type Iv
Congenital Benign Spinal Muscular Atrophy Dominant

Diseases related to Spinal Muscular Atrophy, Type Ii via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 66)
# Related Disease Score Top Affiliating Genes
1 spinal muscular atrophy 31.8 SMN2 SMN1 NAIP
2 spinal muscular atrophy, type iii 30.6 SMN2 SMN1 NAIP
3 muscular atrophy 30.1 SMN2 SMN1 NAIP
4 progressive muscular atrophy 29.5 SMN2 SMN1
5 anterior horn cell disease 29.5 SMN2 SMN1
6 proximal spinal muscular atrophy 29.2 SMN2 SMN1 NAIP
7 neuromuscular disease 29.2 SMN2 SMN1 NAIP
8 nervous system disease 29.0 SMN2 SMN1
9 motor neuron disease 28.9 SMN2 SMN1 NAIP
10 spinal muscular atrophy, type i 28.8 SMN2 SMN1 NAIP
11 amyotrophic lateral sclerosis 1 28.3 SMN2 SMN1 NAIP
12 muscular disease 27.9 SMN2 SMN1 NCAM1 NAIP
13 spinal muscular atrophy, distal, autosomal recessive, 2 11.5
14 spinal muscular atrophy, x-linked 2 11.5
15 distal hereditary motor neuronopathy type 2 11.5
16 spinal muscular atrophy with respiratory distress type 2 11.5
17 scoliosis 10.4
18 alkuraya-kucinskas syndrome 10.3
19 talipes equinovarus 10.3
20 congenital amyoplasia 10.3
21 muscular dystrophy 10.2
22 dysphagia 10.2
23 respiratory failure 10.2
24 spinal muscular atrophy, facioscapulohumeral type 10.1
25 candidiasis, familial, 1 10.0
26 myasthenia gravis 10.0
27 muscular dystrophy, duchenne type 10.0
28 diabetes mellitus, ketosis-prone 10.0
29 aspiration pneumonia 10.0
30 autosomal recessive disease 10.0
31 pain agnosia 10.0
32 idiopathic scoliosis 10.0
33 hyperinsulinism 10.0
34 myopathy 10.0
35 hypoglycemia 10.0
36 47,xyy 10.0
37 hypotonia 10.0
38 sleep apnea 10.0
39 bronchitis 10.0
40 lung disease 10.0
41 spinal muscular atrophy, late-onset, finkel type 10.0
42 cystic fibrosis 10.0
43 neuronopathy, distal hereditary motor, type va 10.0
44 facial paralysis 10.0
45 lateral sclerosis 10.0
46 central nervous system disease 10.0
47 mitochondrial myopathy 10.0
48 limb-girdle muscular dystrophy 10.0
49 tremor 10.0
50 rett syndrome 9.9

Graphical network of the top 20 diseases related to Spinal Muscular Atrophy, Type Ii:



Diseases related to Spinal Muscular Atrophy, Type Ii

Symptoms & Phenotypes for Spinal Muscular Atrophy, Type Ii

Human phenotypes related to Spinal Muscular Atrophy, Type Ii:

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 muscle weakness 32 HP:0001324
2 recurrent respiratory infections 32 HP:0002205
3 emg abnormality 32 HP:0003457
4 tongue fasciculations 32 HP:0001308
5 spinal muscular atrophy 32 HP:0007269
6 hand tremor 32 HP:0002378
7 degeneration of anterior horn cells 32 HP:0002398

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
hand tremor
degeneration of anterior horn cells
muscle atrophy
emg shows neurogenic abnormalities
muscle weakness, symmetric, proximal (lower limbs more affected than upper limbs) due to motor neuronopathy
more

Clinical features from OMIM:

253550

UMLS symptoms related to Spinal Muscular Atrophy, Type Ii:


tremor of hands

Drugs & Therapeutics for Spinal Muscular Atrophy, Type Ii

Drugs for Spinal Muscular Atrophy, Type Ii (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 33)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetaminophen Approved Phase 4 103-90-2 1983
2 Analgesics, Non-Narcotic Phase 4
3 Analgesics Phase 4
4 Peripheral Nervous System Agents Phase 4
5 Antipyretics Phase 4
6
Riluzole Approved, Investigational Phase 2, Phase 3 1744-22-5 5070
7 Neurotransmitter Agents Phase 2, Phase 3
8 Neuroprotective Agents Phase 2, Phase 3
9 Protective Agents Phase 2, Phase 3
10 Excitatory Amino Acid Antagonists Phase 2, Phase 3
11 Excitatory Amino Acids Phase 2, Phase 3
12 Anticonvulsants Phase 2, Phase 3
13
Valproic acid Approved, Investigational Phase 2 99-66-1 3121
14
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
15 Hormones Phase 2
16 Hormone Antagonists Phase 2
17 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2
18 Psychotropic Drugs Phase 2
19 Central Nervous System Depressants Phase 2
20 carnitine Phase 2
21 GABA Agents Phase 2
22 Tranquilizing Agents Phase 2
23 Antimanic Agents Phase 2
24 Cyclooxygenase Inhibitors Phase 2
25 Cyclooxygenase 2 Inhibitors Phase 2
26 Anti-Inflammatory Agents, Non-Steroidal Phase 2
27 Anti-Inflammatory Agents Phase 2
28 Antirheumatic Agents Phase 2
29 Immunoglobulin G Phase 2
30 Antibodies Phase 2
31 Immunoglobulins Phase 2
32 Antibodies, Monoclonal Phase 2
33 4-phenylbutyric acid Phase 1, Phase 2

Interventional clinical trials:

(show all 17)
# Name Status NCT ID Phase Drugs
1 Pharmacokinetics and Safety of Treatment With Paracetamol in Children and Adults With Spinal Muscular Atrophy and Cerebral Palsy Recruiting NCT03648658 Phase 4 Paracetamol 120Mg/5mL Oral Suspension
2 Multicentric, Randomized, Double-blind Study Versus Placebo, With Two Parallel Groups Treated to Evaluate the Efficacy and the Tolerance of Riluzole in Children and Young Adults (6 to 20 Years of Age) With SMA. (Type II and Type III) Completed NCT00774423 Phase 2, Phase 3 Riluzole
3 Can Treatment With Human Growth Hormone Increase Strength in Spinal Muscular Atrophy Type II and III? Completed NCT00533221 Phase 2 somatotropin;Placebo
4 Phase II, Multicenter, Randomized, Adaptive, Double-blind, Placebo Controlled Study to Assess Safety and Efficacy of Olesoxime (TRO19622) in 3-25 Year Old Spinal Muscular Atrophy (SMA) Patients. Completed NCT01302600 Phase 2 Olesoxime;Placebo
5 Prospective Phase I/II Study to Evaluate Effects of Sodium Phenylbutyrate in Pre-symptomatic Infants With Spinal Muscular Atrophy Completed NCT00528268 Phase 1, Phase 2 Sodium phenylbutyrate (NaPB)
6 Multi-center Phase II Trial of Valproic Acid and Carnitine in Patients With Spinal Muscular Atrophy (SMA CARNI-VAL Trial) Completed NCT00227266 Phase 2 Valproic Acid and Levocarnitine;Placebo
7 A Pilot, Open-Label, Dose Response Study Investigating the Effect of Low-Dose Celecoxib on SMN2 in Patients With Spinal Muscular Atrophy (SMA) Recruiting NCT02876094 Phase 2 celecoxib
8 Phase 2 Active Treatment Study to Evaluate the Efficacy and Safety of SRK-015 in Patients With Later-Onset Spinal Muscular Atrophy (TOPAZ) Recruiting NCT03921528 Phase 2
9 Phase I/IIa Clinical Trial of Sodium Phenylbutyrate in Pediatric Subjects With Type II/III Spinal Muscular Atrophy Terminated NCT00439569 Phase 1, Phase 2 sodium phenylbutyrate
10 Assessment of Motor Development Related to Use of Orthoses in SMA II and III Unknown status NCT00961103
11 Clinical Assessment of Spinal Muscular Atrophy Type II and III Completed NCT01611610
12 A Pilot Study of Biomarkers for Spinal Muscular Atrophy Completed NCT00756821
13 Fedt og Sukkerstofskiftet Under Faste Hos Patienter Med Lav Muskelmasse. Completed NCT03970135
14 International Spinal Muscular Atrophy Patient Registry Completed NCT00466349
15 Effects of Air Stacking Versus Glossopharyngeal Breathing on Maximum Insufflation Capacity in Children and Adolescents With Neuromuscular Disease Completed NCT02500030
16 Controlled Trial Evaluating the Interest of Noninvasive Ventilation in NAVA Mode in Respiratory Decompensations Children With Infantile Spinal Muscular Atrophy Type II Recruiting NCT03395795
17 A Prospective, Multi-center, Observational Study of the Safety, Tolerability and Effectiveness of SPINRAZA® (Nusinersen) in Adult Patients With Spinal Muscular Atrophy Recruiting NCT03709784

Search NIH Clinical Center for Spinal Muscular Atrophy, Type Ii

Genetic Tests for Spinal Muscular Atrophy, Type Ii

Genetic tests related to Spinal Muscular Atrophy, Type Ii:

# Genetic test Affiliating Genes
1 Spinal Muscular Atrophy, Type Ii 29 SMN1

Anatomical Context for Spinal Muscular Atrophy, Type Ii

MalaCards organs/tissues related to Spinal Muscular Atrophy, Type Ii:

41
Spinal Cord, Testes, Tongue, Lung

Publications for Spinal Muscular Atrophy, Type Ii

Articles related to Spinal Muscular Atrophy, Type Ii:

(show top 50) (show all 118)
# Title Authors PMID Year
1
Unaffected patients with a homozygous absence of the SMN1 gene. 38 8
18337729 2008
2
Preservation of central motor conduction in patients with spinal muscular atrophy type II. 38 8
8747423 1995
3
Spinal muscular atrophy type II. A separate genetic and clinical entity from type I (Werdnig-Hoffmann disease) and type 3 (Kugelberg-Welander disease). 38 8
5146579 1971
4
Clinical utility gene card for: proximal spinal muscular atrophy. 71
22510849 2012
5
Association of plastin 3 expression with disease severity in spinal muscular atrophy only in postpubertal females. 8
20937953 2010
6
Consensus statement for standard of care in spinal muscular atrophy. 71
17761659 2007
7
In vivo activation of SMN in spinal muscular atrophy carriers and patients treated with valproate. 8
16607616 2006
8
Hydroxyurea enhances SMN2 gene expression in spinal muscular atrophy cells. 8
16049920 2005
9
Molecular and functional analysis of intragenic SMN1 mutations in patients with spinal muscular atrophy. 71
15580564 2005
10
Phenylbutyrate increases SMN expression in vitro: relevance for treatment of spinal muscular atrophy. 8
14560316 2004
11
A genetic and phenotypic analysis in Spanish spinal muscular atrophy patients with c.399_402del AGAG, the most frequently found subtle mutation in the SMN1 gene. 71
12872254 2003
12
Premature termination mutations in exon 3 of the SMN1 gene are associated with exon skipping and a relatively mild SMA phenotype. 71
11313744 2001
13
Spinal Muscular Atrophy 71
20301526 2000
14
An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA). 8
10679938 2000
15
Intragenic telSMN mutations: frequency, distribution, evidence of a founder effect, and modification of the spinal muscular atrophy phenotype by cenSMN copy number. 71
9837824 1998
16
Spinal muscular atrophy due to an isolated deletion of exon 8 of the telomeric survival motor neuron gene. 71
9818944 1998
17
SMA type 2 unrelated to chromosome 5q13. 8
9450884 1998
18
Missense mutations in exon 6 of the survival motor neuron gene in patients with spinal muscular atrophy (SMA). 71
9158159 1997
19
Deletion analysis of the SMN and NAIP genes in Kuwaiti patients with spinal muscular atrophy. 8
8882869 1996
20
Unusual molecular findings in autosomal recessive spinal muscular atrophy. 8
8782046 1996
21
A frame-shift deletion in the survival motor neuron gene in Spanish spinal muscular atrophy patients. 71
7581461 1995
22
An investigation of genetic heterogeneity and linkage disequilibrium in 161 families with spinal muscular atrophy. 8
8088801 1994
23
Linkage study of chronic childhood-onset spinal muscular atrophy (SMA): confirmation of close linkage to D5S39 in French Canadian families. 8
1427826 1992
24
Gene for chronic proximal spinal muscular atrophies maps to chromosome 5q. 8
1970420 1990
25
Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q11.2-13.3. 8
2320125 1990
26
Chronic proximal spinal muscular atrophy of childhood and adolescence: problems of classification and genetic counselling. 8
4078864 1985
27
The genetic identity of acute infantile spinal muscular atrophy. 8
4743929 1973
28
Nusinersen: A Treatment for Spinal Muscular Atrophy. 6
30008228 2019
29
New and developing therapies in spinal muscular atrophy. 6
29703692 2018
30
Salbutamol tolerability and efficacy in patients with spinal muscular atrophy type II. 38
31201046 2019
31
Effects of long-term non-invasive ventilation on sleep structure in children with Spinal Muscular Atrophy type 2. 38
31132576 2019
32
Synthesis of All Stereoisomers of Monomeric Spectomycin A1/A2 and Evaluation of Their Protein SUMOylation-Inhibitory Activity. 38
30887578 2019
33
The effect of two different aerobic training modalities in a child with spinal muscular atrophy type II: a case report. 38
31111020 2019
34
Lumbosacral ventral spinal nerve root atrophy identified on MRI in a case of spinal muscular atrophy type II. 38
30340076 2019
35
[Respiratory care in spinal muscular atrophy in the new therapeutic era]. 38
30725056 2018
36
Self-assembly and biological activities of ionic liquid crystals derived from aromatic amino acids. 38
30043016 2018
37
Electrocardiographic Evaluation in Patients With Spinal Muscular Atrophy: A Case-Control Study. 38
29687752 2018
38
Effects of Arm Cycling Exercise in Spinal Muscular Atrophy Type II Patients: A Pilot Study. 38
29327642 2018
39
A New Method for Measuring Bell-Shaped Chest Induced by Impaired Ribcage Muscles in Spinal Muscular Atrophy Children. 38
30271372 2018
40
Functional characterization of the Ca2+-ATPase SMA1 from Schistosoma mansoni. 38
29229760 2018
41
Modifier genes: Moving from pathogenesis to therapy. 38
28684086 2017
42
The effect of scoliosis surgery on pulmonary function in spinal muscular atrophy type II patients. 38
27807779 2017
43
Two Cases of Spinal Muscular Atrophy Type II with Eosinophilic Oesophagitis. 38
29172006 2017
44
[Molecular Features of SMA-related Genes in Spinal Muscular Atrophy Patients of Han Nationality in Southwest China.] 38
28598128 2016
45
Ndt80 activates the meiotic ORC1 transcript isoform and SMA2 via a bi-directional middle sporulation element in Saccharomyces cerevisiae. 38
27362276 2016
46
The Dysferlin Domain-Only Protein, Spo73, Is Required for Prospore Membrane Extension in Saccharomyces cerevisiae. 38
27303688 2016
47
Spontaneous Breathing Pattern as Respiratory Functional Outcome in Children with Spinal Muscular Atrophy (SMA). 38
27820869 2016
48
Responses to Fasting and Glucose Loading in a Cohort of Well Children with Spinal Muscular Atrophy Type II. 38
26454573 2015
49
Upper limb evaluation and one-year follow up of non-ambulant patients with spinal muscular atrophy: an observational multicenter trial. 38
25861036 2015
50
Fatigue in patients with spinal muscular atrophy type II and congenital myopathies: evaluation of the fatigue severity scale. 38
24214178 2014

Variations for Spinal Muscular Atrophy, Type Ii

ClinVar genetic disease variations for Spinal Muscular Atrophy, Type Ii:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 SMN1 NM_000344.3(SMN1): c.5C> G (p.Ala2Gly) single nucleotide variant Pathogenic rs75030631 5:70220935-70220935 5:70925108-70925108
2 SMN1 SMN1, EX8DEL deletion Pathogenic
3 SMN1 NM_000344.3(SMN1): c.305G> A (p.Trp102Ter) single nucleotide variant Pathogenic rs77804083 5:70238216-70238216 5:70942389-70942389
4 SMN1 SMN1, 4-BP DEL, 399AGAG deletion Pathogenic
5 SMN1 NM_000344.3(SMN1): c.88G> A (p.Asp30Asn) single nucleotide variant Pathogenic rs104893930 5:70234672-70234672 5:70938845-70938845
6 SMN1 NM_000344.3(SMN1): c.332C> G (p.Ala111Gly) single nucleotide variant Pathogenic rs104893935 5:70238243-70238243 5:70942416-70942416
7 SMN1 NM_000344.3(SMN1): c.48_55dup (p.Val19fs) duplication Pathogenic 5:70220978-70220985 5:70925151-70925158
8 SMN1 deletion Pathogenic rs1554082110 5:70241893-70242003 5:70946066-70946176
9 SMN1 NM_000344.3(SMN1): c.821C> T (p.Thr274Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs76871093 5:70241990-70241990 5:70946163-70946163
10 SMN1 NM_000344.3(SMN1): c.662C> T (p.Pro221Leu) single nucleotide variant Uncertain significance 5:70240519-70240519 5:70944692-70944692

UniProtKB/Swiss-Prot genetic disease variations for Spinal Muscular Atrophy, Type Ii:

74
# Symbol AA change Variation ID SNP ID
1 SMN1 p.Ala2Gly VAR_005615 rs75030631
2 SMN1 p.Thr274Ile VAR_005618 rs76871093
3 SMN1 p.Gly279Cys VAR_007990 rs77969175
4 SMN1 p.Asp30Asn VAR_034803 rs104893930
5 SMN1 p.Ala111Gly VAR_034806 rs104893935

Expression for Spinal Muscular Atrophy, Type Ii

Search GEO for disease gene expression data for Spinal Muscular Atrophy, Type Ii.

Pathways for Spinal Muscular Atrophy, Type Ii

Pathways related to Spinal Muscular Atrophy, Type Ii according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.84 SMN2 SMN1

GO Terms for Spinal Muscular Atrophy, Type Ii

Cellular components related to Spinal Muscular Atrophy, Type Ii according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Z disc GO:0030018 9.4 SMN2 SMN1
2 perikaryon GO:0043204 9.37 SMN2 SMN1
3 Cajal body GO:0015030 9.32 SMN2 SMN1
4 cytoplasmic ribonucleoprotein granule GO:0036464 9.26 SMN2 SMN1
5 SMN-Sm protein complex GO:0034719 9.16 SMN2 SMN1
6 SMN complex GO:0032797 8.96 SMN2 SMN1
7 Gemini of coiled bodies GO:0097504 8.62 SMN2 SMN1

Biological processes related to Spinal Muscular Atrophy, Type Ii according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nervous system development GO:0007399 9.5 SMN2 SMN1 NAIP
2 RNA splicing GO:0008380 9.37 SMN2 SMN1
3 spliceosomal snRNP assembly GO:0000387 9.26 SMN2 SMN1
4 spliceosomal complex assembly GO:0000245 9.16 SMN2 SMN1
5 import into nucleus GO:0051170 8.96 SMN2 SMN1
6 DNA-templated transcription, termination GO:0006353 8.62 SMN2 SMN1

Sources for Spinal Muscular Atrophy, Type Ii

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
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