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Familial adenomatous polyposis due to 5q22.2 microdeletion
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Severe congenital nemaline myopathy
4 associated genes
No signs/symptoms info
Familial adenomatous polyposis due to 5q22.2 microdeletion
Severe congenital nemaline myopathy

APC
(UniProt - OMIM)
 ACTA1
(UniProt - OMIM)
KLHL40
(UniProt - OMIM)
KLHL41
(UniProt - OMIM)
NEB
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
APC
(0.63)
NEB


Citations in the biomedical literature:


Familial adenomatous polyposis due to 5q22.2 microdeletion
APC
Severe congenital nemaline myopathy
ACTA1 KLHL40 KLHL41 NEB



Familial adenomatous polyposis due to 5q22.2 microdeletion
Severe congenital nemaline myopathy

Synonym(s):
- Colorectal adenomatous polyposis due to monosomy 5q22.2
- FAP due to monosomy 5q22.2
- Familial adenomatous polyposis due to del(5)(q22.2)
- Familial adenomatous polyposis due to monosomy 5q22.2
- Familial polyposis coli due to monosomy 5q22.2
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare gastroenterologic disease
- Rare genetic disease
- Rare oncologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Neoplasms -
Classification (ICD10):
- Diseases of the nervous system -
Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: child / adolescent
Type of inheritance: autosomal recessive
External references:
No OMIM references
No MeSH references
External references:
No OMIM references
No MeSH references
No signs/symptoms info available.