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13 OMIM references -
14 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 associated gene
No signs/symptoms info
Autosomal dominant nonsyndromic intellectual deficit
Severe early-onset axonal neuropathy due to NEFL deficiency

CACNG2 NEFL
CDH15
CTNNB1
DOCK8
DYNC1H1
DYRK1A
EPB41L1
GRIN1
GRIN2B
KIF1A
KIRREL3
MBD5
SYNGAP1
TCF4


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
GRIN1
(0.65)
NEFL



Citations in the biomedical literature:


Autosomal dominant nonsyndromic intellectual deficit
CACNG2 CDH15 CTNNB1 DOCK8 DYNC1H1 DYRK1A
EPB41L1 GRIN1 GRIN2B KIF1A KIRREL3 MBD5
SYNGAP1 TCF4
Severe early-onset axonal neuropathy due to NEFL deficiency
NEFL



Autosomal dominant nonsyndromic intellectual deficit
Severe early-onset axonal neuropathy due to NEFL deficiency

Synonym(s):
(no synonyms)

Synonym(s):
- Severe early-onset axonal neuropathy due to light neurofilament subunit deficiency

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

Classification (ICD10):
(no data available)
Classification (ICD10):
- Diseases of the nervous system -

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

External references:
13 OMIM references -
No MeSH references
External references:
No OMIM references
No MeSH references

No signs/symptoms info available.