Cytoscape Web
Click node...


1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
11 OMIM references -
3 associated genes
No signs/symptoms info
Combined oxidative phosphorylation defect type 4
Familial cerebral saccular aneurysm

TUFM COL3A1
ENG
TGFBR3


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
TUFM
(0.49)
ENG



Citations in the biomedical literature:


Combined oxidative phosphorylation defect type 4
TUFM
Familial cerebral saccular aneurysm
COL3A1 ENG TGFBR3



Combined oxidative phosphorylation defect type 4
Familial cerebral saccular aneurysm

Synonym(s):
- COXPD4

Synonym(s):
- Familial berry aneurysm
- Familial intracranial saccular aneurysm

Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease

Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
(no data available)

Epidemiological data:
Class of prevalence: -
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: -
Average age onset: variable
Average age of death: -
Type of inheritance: autosomal dominant

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

No signs/symptoms info available.