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6 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Childhood-onset nemaline myopathy
Aneurysm - osteoarthritis syndrome

ACTA1 SMAD3
KBTBD13
KLHL41
NEB
TPM2
TPM3


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
TPM3
(0.59)
SMAD3



Citations in the biomedical literature:


Childhood-onset nemaline myopathy
ACTA1 KBTBD13 KLHL41 NEB TPM2 TPM3

Aneurysm - osteoarthritis syndrome
SMAD3



Childhood-onset nemaline myopathy
Aneurysm - osteoarthritis syndrome

Synonym(s):
- Mild nemaline myopathy

Synonym(s):
- AOS
- Loeys-Dietz syndrome with osteoarthritis

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare circulatory system disease
- Rare genetic disease
- Rare surgical thoracic disease
- Rare systemic or rheumatologic disease

Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
(no data available)

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: variable
Average age of death: -
Type of inheritance: autosomal dominant

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

No signs/symptoms info available.