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5 OMIM references -
5 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
4 OMIM references -
13 associated genes
No signs/symptoms info
Congenital muscular dystrophy with cerebellar involvement
Hereditary breast and ovarian cancer syndrome

FKRP BARD1
GMPPB BRCA1
POMGNT1 BRCA2
POMT1 BRIP1
POMT2 CHEK2
MRE11A
NBN
PALB2
PTEN
RAD50
RAD51
RAD51C
RAD51D


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 breast and ovarian cancer syndrome
BARD1 BRCA1 BRCA2 BRIP1 CHEK2 MRE11A
NBN PALB2 PTEN RAD50 RAD51 RAD51C
RAD51D



Congenital muscular dystrophy with cerebellar involvement
Hereditary breast and 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: 1-5 / 10 000
Average age onset: variable
Average age of death: -
Type of inheritance: autosomal dominant

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

No signs/symptoms info available.