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5 OMIM references -
5 associated genes
No signs/symptoms info
COMMON GENES: 2
PROTEIN INTERACTIONS: 1
2 OMIM references -
4 associated genes
No signs/symptoms info
Congenital muscular dystrophy with cerebellar involvement
Congenital muscular dystrophy without intellectual disability

FKRP FKRP
GMPPB FKTN
POMGNT1 ISPD
POMT1 POMT1
POMT2


COMMON
GENES
FKRP
POMT1


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Congenital muscular dystrophy with cerebellar involvement
FKRP GMPPB POMGNT1 POMT1 POMT2
Congenital muscular dystrophy without intellectual disability
FKTN ISPD



Congenital muscular dystrophy with cerebellar involvement
Congenital muscular dystrophy without intellectual disability

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

Synonym(s):
- CMD without intellectual disability
- CMD-no 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:
2 OMIM references -
No MeSH references

No signs/symptoms info available.