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Autosomal dominant Charcot-Marie-Tooth disease type 2E
1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Autosomal dominant nonsyndromic intellectual deficit
13 OMIM references -
14 associated genes
No signs/symptoms info
Autosomal dominant Charcot-Marie-Tooth disease type 2E
Autosomal dominant nonsyndromic intellectual deficit

NEFL
(UniProt - OMIM)
 CACNG2
(UniProt - OMIM)
CDH15
(UniProt - OMIM)
CTNNB1
(UniProt - OMIM)
DOCK8
(UniProt - OMIM)
DYNC1H1
(UniProt - OMIM)
DYRK1A
(UniProt - OMIM)
EPB41L1
(UniProt - OMIM)
GRIN1
(UniProt - OMIM)
GRIN2B
(UniProt - OMIM)
KIF1A
(UniProt - OMIM)
KIRREL3
(UniProt - OMIM)
MBD5
(UniProt - OMIM)
SYNGAP1
(UniProt - OMIM)
TCF4
(UniProt - OMIM)

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


Citations in the biomedical literature:


Autosomal dominant Charcot-Marie-Tooth disease type 2E
NEFL
Autosomal dominant nonsyndromic intellectual deficit
CACNG2 CDH15 CTNNB1 DOCK8 DYNC1H1 DYRK1A
EPB41L1 GRIN1 GRIN2B KIF1A KIRREL3 MBD5
SYNGAP1 TCF4



Autosomal dominant Charcot-Marie-Tooth disease type 2E
Autosomal dominant nonsyndromic intellectual deficit

Synonym(s):
- CMT2E
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
(no data available)
Epidemiological data:
Class of prevalence: -
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
External references:
13 OMIM references -
No MeSH references
No signs/symptoms info available.