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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 2
2 associated genes
No signs/symptoms info
Granular corneal dystrophy type II
High bone mass osteogenesis imperfecta

TGFBI COL1A1
COL1A2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
TGFBI
TGFBI
(0.63)
(0.62)
COL1A1
COL1A2



Citations in the biomedical literature:


Granular corneal dystrophy type II
TGFBI
High bone mass osteogenesis imperfecta
COL1A1 COL1A2



Granular corneal dystrophy type II
High bone mass osteogenesis imperfecta

Synonym(s):
- Avellino corneal dystrophy
- GCD2
- GCDII
- Granular corneal dystrophy type 2
- Granular-lattice corneal dystrophy

Synonym(s):
- High bone mass OI

Classification (Orphanet):
- Rare eye disease
- Rare genetic disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease

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

Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
1 MeSH reference: C535474
External references:
No OMIM references
No MeSH references

No signs/symptoms info available.