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Autosomal dominant Emery-Dreifuss muscular dystrophy
4 OMIM references -
4 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 2
Congenital bilateral absence of vas deferens
1 OMIM reference -
1 associated gene
No signs/symptoms info
Autosomal dominant Emery-Dreifuss muscular dystrophy
Congenital bilateral absence of vas deferens

LMNA
(UniProt - OMIM)
 CFTR
(UniProt - OMIM)
SYNE1
(UniProt - OMIM)
SYNE2
(UniProt - OMIM)
TMEM43
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
TMEM43
LMNA
(0.72)
(0.63)
CFTR
CFTR


Citations in the biomedical literature:


Autosomal dominant Emery-Dreifuss muscular dystrophy
LMNA SYNE1 SYNE2 TMEM43
Congenital bilateral absence of vas deferens
CFTR



Autosomal dominant Emery-Dreifuss muscular dystrophy
Congenital bilateral absence of vas deferens

Synonym(s):
(no synonyms)

Synonym(s):
- Congenital bilateral agenesis of vas deferens
- Congenital bilateral aplasia of vas deferens
Classification (Orphanet):
- Rare cardiac disease
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare infertility
- Rare urogenital disease
Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: 1-5 / 10 000
Average age onset: adolescence / young
Average age of death: normal
Type of inheritance: autosomal recessive
External references:
4 OMIM references -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: C535984
No signs/symptoms info available.