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4 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 2
Severe congenital nemaline myopathy
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form

ACTA1 CTNNA3
KLHL40 DSC2
KLHL41 DSG2
NEB DSP
JUP
LMNA
PKP2
RYR2
TGFB3
TMEM43
TTN


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
NEB
ACTA1
(0.9)
(0.63)
TTN
TTN



Citations in the biomedical literature:


Severe congenital nemaline myopathy
ACTA1 KLHL40 KLHL41 NEB
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
CTNNA3 DSC2 DSG2 DSP JUP LMNA
PKP2 RYR2 TGFB3 TMEM43 TTN



Severe congenital nemaline myopathy
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form

Synonym(s):
(no synonyms)

Synonym(s):
- Familial isolated arrhythmogenic ventricular cardiomyopathy, left dominant form

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:
(no data available)

External references:
No OMIM references
No MeSH references
External references:
No OMIM references
No MeSH references

No signs/symptoms info available.