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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
5 associated genes
No signs/symptoms info
Autosomal dominant Charcot-Marie-Tooth disease type 2E
Prader-Willi syndrome due to imprinting mutation

NEFL MAGEL2
NDN
SNORD115@
SNORD116@
SNRPN


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
NEFL
(0.63)
NDN



Citations in the biomedical literature:


Autosomal dominant Charcot-Marie-Tooth disease type 2E
NEFL
Prader-Willi syndrome due to imprinting mutation
MAGEL2 NDN SNORD115@ SNORD116@ SNRPN



Autosomal dominant Charcot-Marie-Tooth disease type 2E
Prader-Willi syndrome due to imprinting mutation

Synonym(s):
- CMT2E

Synonym(s):
(no synonyms)

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare genetic disease
- Rare gynecologic or obstetric disease
- Rare infertility
- 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:
No OMIM references
No MeSH references

No signs/symptoms info available.