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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 2
2 OMIM references -
2 associated genes
No signs/symptoms info
Reis-Bücklers corneal dystrophy
Osteogenesis imperfecta type 1

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:


Reis-Bücklers corneal dystrophy
TGFBI
Osteogenesis imperfecta type 1
COL1A1 COL1A2



Reis-Bücklers corneal dystrophy
Osteogenesis imperfecta type 1

Synonym(s):
- Anterior limiting membrane dystrophy type I
- Atypical granular corneal dystrophy
- Corneal dystrophy of Bowman layer type I
- Geographic corneal dystrophy
- Granular corneal dystrophy type III
- RBCD
- Superficial granular corneal dystrophy

Synonym(s):
- Adair-Dighton syndrome
- Mild osteogenesis imperfecta
- Non-deforming osteogenesis imperfecta
- OI type 1
- Van der Hoeve syndrome

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

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

No signs/symptoms info available.