Cytoscape Web
Click node...

Autosomal dominant Charcot-Marie-Tooth disease type 2E
1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Amyotrophic lateral sclerosis
16 OMIM references -
26 associated genes
No signs/symptoms info
Autosomal dominant Charcot-Marie-Tooth disease type 2E
Amyotrophic lateral sclerosis

NEFL
(UniProt - OMIM)
 ANG
(UniProt - OMIM)
ATXN2
(UniProt - OMIM)
C9ORF72
(UniProt - OMIM)
CHMP2B
(UniProt - OMIM)
DAO
(UniProt - OMIM)
DCTN1
(UniProt - OMIM)
DPYSL3
(UniProt - OMIM)
ERBB4
(UniProt - OMIM)
FIG4
(UniProt - OMIM)
FUS
(UniProt - OMIM)
HNRNPA1
(UniProt - OMIM)
NEFH
(UniProt - OMIM)
OPTN
(UniProt - OMIM)
PFN1
(UniProt - OMIM)
PON1
(UniProt - OMIM)
PON2
(UniProt - OMIM)
PON3
(UniProt - OMIM)
PPARGC1A
(UniProt - OMIM)
PRPH
(UniProt - OMIM)
SOD1
(UniProt - OMIM)
SQSTM1
(UniProt - OMIM)
TAF15
(UniProt - OMIM)
TARDBP
(UniProt - OMIM)
UBQLN2
(UniProt - OMIM)
VAPB
(UniProt - OMIM)
VCP
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
NEFL
(0.58)
NEFH


Citations in the biomedical literature:


Autosomal dominant Charcot-Marie-Tooth disease type 2E
NEFL
Amyotrophic lateral sclerosis
ANG ATXN2 C9ORF72 CHMP2B DAO DCTN1
DPYSL3 ERBB4 FIG4 FUS HNRNPA1 NEFH
OPTN PFN1 PON1 PON2 PON3 PPARGC1A
PRPH SOD1 SQSTM1 TAF15 TARDBP UBQLN2
VAPB VCP



Autosomal dominant Charcot-Marie-Tooth disease type 2E
Amyotrophic lateral sclerosis

Synonym(s):
- CMT2E
Synonym(s):
- ALS
- Charcot disease
- Lou Gehrig disease
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare neurologic disease
Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Diseases of the nervous system -
Epidemiological data:
Class of prevalence: -
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: adulthood
Average age of death: adult
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
External references:
16 OMIM references -
1 MeSH reference: D000690
No signs/symptoms info available.