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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
3 associated genes
No signs/symptoms info
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
Myxofibrosarcoma

DYNC1H1 CREB3L1
CREB3L2
FUS


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
DYNC1H1
(0.49)
FUS



Citations in the biomedical literature:


Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
DYNC1H1
Myxofibrosarcoma
CREB3L1 CREB3L2 FUS



Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
Myxofibrosarcoma

Synonym(s):
- Lower extremity-predominant autosomal dominant proximal spinal muscular atrophy without contractures
- SMALED1

Synonym(s):
- Fibromyxosarcoma
- Myxoid malignant fibrous histiocytoma

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

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

Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: adult
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: unknown
Average age onset: adulthood
Average age of death: -
Type of inheritance: sporadic

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

No signs/symptoms info available.