Cytoscape Web
Click node...


1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Ehlers-Danlos syndrome, cardiac valvular type
Thiel-Behnke corneal dystrophy

COL1A2 TGFBI


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
COL1A2
(0.62)
TGFBI



Citations in the biomedical literature:


Ehlers-Danlos syndrome, cardiac valvular type
COL1A2
Thiel-Behnke corneal dystrophy
TGFBI



Ehlers-Danlos syndrome, cardiac valvular type
Thiel-Behnke corneal dystrophy

Synonym(s):
- EDS, cardiac valvular type

Synonym(s):
- Anterior limiting membrane dystrophy type II
- Corneal dystrophy of Bowman layer type II
- Curly fiber corneal dystrophy
- Honeycomb corneal dystrophy
- TBCD
- Waardenburg-Jonker corneal dystrophy

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare skin disease
- Rare surgical cardiac disease
- Rare systemic or rheumatologic disease
Classification (Orphanet):
- Rare eye disease
- Rare genetic disease

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

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: unknown
Average age onset: adolescence / young
Average age of death: -
Type of inheritance: autosomal dominant

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

No signs/symptoms info available.