Cytoscape Web
Click node...


1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 2
1 OMIM reference -
6 associated genes
No signs/symptoms info
Congenital bilateral absence of vas deferens
Behavioral variant of frontotemporal dementia

CFTR C9ORF72
CHMP2B
GRN
MAPT
PSEN1
VCP


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
CFTR
CFTR
(0.83)
(0.72)
VCP
GRN



Citations in the biomedical literature:


Congenital bilateral absence of vas deferens
CFTR
Behavioral variant of frontotemporal dementia
C9ORF72 CHMP2B GRN MAPT PSEN1 VCP



Congenital bilateral absence of vas deferens
Behavioral variant of frontotemporal dementia

Synonym(s):
- Congenital bilateral agenesis of vas deferens
- Congenital bilateral aplasia of vas deferens

Synonym(s):
- bv-FTD

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare infertility
- Rare urogenital disease
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Diseases of the nervous system -

Epidemiological data:
Class of prevalence: 1-5 / 10 000
Average age onset: adolescence / young
Average age of death: normal
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: unknown
Average age onset: adulthood
Average age of death: elderly
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
1 MeSH reference: C535984
External references:
1 OMIM reference -
No MeSH references

No signs/symptoms info available.