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

COL1A1 TGFBI
COL1A2


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


High bone mass osteogenesis imperfecta
COL1A1 COL1A2
Thiel-Behnke corneal dystrophy
TGFBI



High bone mass osteogenesis imperfecta
Thiel-Behnke corneal dystrophy

Synonym(s):
- High bone mass OI

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 bone disease
- Rare developmental defect during embryogenesis
- Rare genetic 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: childhood
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: unknown
Average age onset: adolescence / young
Average age of death: -
Type of inheritance: autosomal dominant

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

No signs/symptoms info available.