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Congenital muscular dystrophy with intellectual disability
5 OMIM references -
5 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
1 OMIM reference -
1 associated gene
No signs/symptoms info
Congenital muscular dystrophy with intellectual disability
Familial dilated cardiomyopathy with conduction defect due to LMNA mutation

FKRP
(UniProt - OMIM)
 LMNA
(UniProt - OMIM)
GMPPB
(UniProt - OMIM)
LARGE
(UniProt - OMIM)
POMT1
(UniProt - OMIM)
POMT2
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
GMPPB
(0.63)
LMNA


Citations in the biomedical literature:


Congenital muscular dystrophy with intellectual disability
FKRP GMPPB LARGE POMT1 POMT2
Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
LMNA



Congenital muscular dystrophy with intellectual disability
Familial dilated cardiomyopathy with conduction defect due to LMNA mutation

Synonym(s):
- CMD with intellectual disability
- CMD-MR
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare cardiac disease
- Rare genetic disease
Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
(no data available)
Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: unknown
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant
External references:
5 OMIM references -
No MeSH references
External references:
1 OMIM reference -
No MeSH references
No signs/symptoms info available.