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5 OMIM references -
5 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
2 associated genes
No signs/symptoms info
Congenital muscular dystrophy with cerebellar involvement
Hereditary site-specific ovarian cancer syndrome

FKRP BRCA1
GMPPB BRCA2
POMGNT1
POMT1
POMT2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
POMGNT1
(0.63)
BRCA1



Citations in the biomedical literature:


Congenital muscular dystrophy with cerebellar involvement
FKRP GMPPB POMGNT1 POMT1 POMT2
Hereditary site-specific ovarian cancer syndrome
BRCA1 BRCA2



Congenital muscular dystrophy with cerebellar involvement
Hereditary site-specific ovarian cancer syndrome

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

Synonym(s):
(no synonyms)

Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare gynecologic or obstetric disease
- Rare oncologic disease

Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Neoplasms -

Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: -
Average age onset: adulthood
Average age of death: -
Type of inheritance: autosomal dominant

External references:
5 OMIM references -
No MeSH references
External references:
No OMIM references
No MeSH references

No signs/symptoms info available.