ODCs

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

PROTEIN INTERACTIONS: 1

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

Spinal muscular atrophy with respiratory distress

Combined oxidative phosphorylation defect type 8

IGHMBP2	(UniProt - OMIM)		AARS2	(UniProt - OMIM)
MEGF10	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	MEGF10	(0.63)	AARS2

Citations in the biomedical literature:

Spinal muscular atrophy with respiratory distress		Combined oxidative phosphorylation defect type 8
	Synonym(s): - Autosomal recessive distal spinal muscular atrophy type 1 - Diaphragmatic spinal muscular atrophy - Distal hereditary motor neuropathy type 6 - SIANRF - SMARD - SMARD1 - Severe infantile axonal neuropathy with respiratory failure - dHMN6 - dSMA1		Synonym(s): - COXPD8

	Classification (Orphanet): - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease

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

	Epidemiological data: Class of prevalence: - Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive		Epidemiological data: (no data available)

	External references: 2 OMIM references - No MeSH references		External references: 1 OMIM reference - No MeSH references

No signs/symptoms info available.