ODCs

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1 OMIM reference -
1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

2 OMIM references -
2 associated genes
No signs/symptoms info

Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures

Cap myopathy

DYNC1H1	(UniProt - OMIM)		TPM2	(UniProt - OMIM)
			TPM3	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	DYNC1H1	(0.49)	TPM2

Citations in the biomedical literature:

Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures		Cap myopathy
	Synonym(s): - Lower extremity-predominant autosomal dominant proximal spinal muscular atrophy without contractures - SMALED1		Synonym(s): - Cap disease

	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: unknown Average age onset: childhood Average age of death: adult 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: 1 OMIM reference - No MeSH references		External references: 2 OMIM references - No MeSH references

No signs/symptoms info available.