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5 OMIM references -
5 associated genes
No signs/symptoms info
COMMON GENES: 4
PROTEIN INTERACTIONS: 1
5 OMIM references -
5 associated genes
No signs/symptoms info
Congenital muscular dystrophy with cerebellar involvement
Congenital muscular dystrophy with intellectual disability

FKRP FKRP
GMPPB GMPPB
POMGNT1 LARGE
POMT1 POMT1
POMT2 POMT2


COMMON
GENES
FKRP
GMPPB
POMT1
POMT2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
POMT1
(0.55)
POMT2



Citations in the biomedical literature:


Congenital muscular dystrophy with cerebellar involvement
FKRP GMPPB POMGNT1 POMT1 POMT2
Congenital muscular dystrophy with intellectual disability
LARGE



Congenital muscular dystrophy with cerebellar involvement
Congenital muscular dystrophy with intellectual disability

Synonym(s):
- CMD with cerebellar involvement
- CMD-CRB

Synonym(s):
- CMD with intellectual disability
- CMD-MR

Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Inborn errors of metabolism
- 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:
5 OMIM references -
No MeSH references

No signs/symptoms info available.