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4 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
10 OMIM references -
12 associated genes
No signs/symptoms info
Severe congenital nemaline myopathy
Left ventricular noncompaction

ACTA1 ACTC1
KLHL40 DTNA
KLHL41 LDB3
NEB LMNA
MIB1
MYBPC3
MYH7
MYH7B
PRDM16
TAZ
TNNT2
TPM1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
ACTA1
(0.55)
DTNA



Citations in the biomedical literature:


Severe congenital nemaline myopathy
ACTA1 KLHL40 KLHL41 NEB
Left ventricular noncompaction
ACTC1 DTNA LDB3 LMNA MIB1 MYBPC3
MYH7 MYH7B PRDM16 TAZ TNNT2 TPM1



Severe congenital nemaline myopathy
Left ventricular noncompaction

Synonym(s):
(no synonyms)

Synonym(s):
- LVNC
- Left ventricular hypertrabeculation
- Spongy myocardium

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

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

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: child / adolescent
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: unknown
Average age onset: variable
Average age of death: -
Type of inheritance: autosomal dominant

External references:
No OMIM references
No MeSH references
External references:
10 OMIM references -
No MeSH references

No signs/symptoms info available.