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Congenital muscular dystrophy with intellectual disability
5 OMIM references -
5 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Atypical Werner syndrome
1 associated gene
No signs/symptoms info
Congenital muscular dystrophy with intellectual disability
Atypical Werner syndrome

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
Atypical Werner syndrome
LMNA



Congenital muscular dystrophy with intellectual disability
Atypical Werner syndrome

Synonym(s):
- CMD with intellectual disability
- CMD-MR
Synonym(s):
- Atypical progeroid syndrome
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
(no data available)
Epidemiological data:
(no data available)
External references:
5 OMIM references -
No MeSH references
External references:
No OMIM references
No MeSH references
No signs/symptoms info available.