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Congenital muscular dystrophy with intellectual disability
5 OMIM references -
5 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Autosomal recessive Emery-Dreifuss muscular dystrophy
1 OMIM reference -
1 associated gene
No signs/symptoms info
Congenital muscular dystrophy with intellectual disability
Autosomal recessive Emery-Dreifuss muscular dystrophy

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
Autosomal recessive Emery-Dreifuss muscular dystrophy
LMNA



Congenital muscular dystrophy with intellectual disability
Autosomal recessive Emery-Dreifuss muscular dystrophy

Synonym(s):
- CMD with intellectual disability
- CMD-MR
Synonym(s):
- EDMD3
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare cardiac disease
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Diseases of the nervous system -
Epidemiological data:
(no data available)
Epidemiological data:
(no data available)
External references:
5 OMIM references -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: D020389
No signs/symptoms info available.