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5 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Typical nemaline myopathy
Spectrin-associated autosomal recessive cerebellar ataxia

ACTA1 SPTBN2
CFL2
KLHL41
NEB
TPM2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
ACTA1
(0.52)
SPTBN2



Citations in the biomedical literature:


Typical nemaline myopathy
ACTA1 CFL2 KLHL41 NEB TPM2
Spectrin-associated autosomal recessive cerebellar ataxia
SPTBN2



Typical nemaline myopathy
Spectrin-associated autosomal recessive cerebellar ataxia

Synonym(s):
(no synonyms)

Synonym(s):
- Autosomal recessive cerebellar ataxia - cognitive defect
- Autosomal recessive spinocerebellar ataxia type 14
- SCAR14
- SPARCA
- SPARCA1
- Spectrin-associated autosomal recessive cerebellar ataxia type 1

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease

Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Diseases of the nervous system -

Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive

External references:
No OMIM references
No MeSH references
External references:
1 OMIM reference -
No MeSH references

No signs/symptoms info available.