Cytoscape Web
Click node...

Blepharophimosis-intellectual deficit syndrome, MKB type
1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Idiopathic bronchiectasis
3 OMIM references -
4 associated genes
No signs/symptoms info
Blepharophimosis-intellectual deficit syndrome, MKB type
Idiopathic bronchiectasis

MED12
(UniProt - OMIM)
 CFTR
(UniProt - OMIM)
SCNN1A
(UniProt - OMIM)
SCNN1B
(UniProt - OMIM)
SCNN1G
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
MED12
(0.63)
CFTR


Citations in the biomedical literature:


Blepharophimosis-intellectual deficit syndrome, MKB type
MED12
Idiopathic bronchiectasis
CFTR SCNN1A SCNN1B SCNN1G



Blepharophimosis-intellectual deficit syndrome, MKB type
Idiopathic bronchiectasis

Synonym(s):
- BMRS, MKB type
- BMRS, Maat-Kievit-Brunner type
- Blepharophimosis-intellectual deficit syndrome, Maat-Kievit-Brunner type
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare respiratory disease
Classification (ICD10):
(no data available)
Classification (ICD10):
- Diseases of the respiratory system -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: x-linked recessive
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
No MeSH references
External references:
3 OMIM references -
No MeSH references
No signs/symptoms info available.