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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Autosomal dominant Charcot-Marie-Tooth disease type 2E
Isolated focal cortical dysplasia type IIb

NEFL TSC1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
NEFL
(0.86)
TSC1



Citations in the biomedical literature:


Autosomal dominant Charcot-Marie-Tooth disease type 2E
NEFL
Isolated focal cortical dysplasia type IIb
TSC1



Autosomal dominant Charcot-Marie-Tooth disease type 2E
Isolated focal cortical dysplasia type IIb

Synonym(s):
- CMT2E

Synonym(s):
- FCD type IIb

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease

Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: -
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
(no data available)

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

No signs/symptoms info available.