Cytoscape Web
Click node...

Desminopathy
1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Constitutional mismatch repair deficiency syndrome
1 OMIM reference -
4 associated genes
No signs/symptoms info
Desminopathy
Constitutional mismatch repair deficiency syndrome

DES
(UniProt - OMIM)
 MLH1
(UniProt - OMIM)
MSH2
(UniProt - OMIM)
MSH6
(UniProt - OMIM)
PMS2
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
DES
(0.78)
MLH1


Citations in the biomedical literature:


Desminopathy
DES
Constitutional mismatch repair deficiency syndrome
MLH1 MSH2 MSH6 PMS2



Desminopathy
Constitutional mismatch repair deficiency syndrome

Synonym(s):
- Desmin-related myofibrillar myopathy
Synonym(s):
- CMMR-D syndrome
Classification (Orphanet):
- Rare cardiac disease
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
- Rare oncologic disease
Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
(no data available)
Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: -
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
No MeSH references
No signs/symptoms info available.