Cytoscape Web
Click node...


2 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
High bone mass osteogenesis imperfecta
Atelosteogenesis type I

COL1A1 FLNB
COL1A2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
COL1A1
(0.63)
FLNB



Citations in the biomedical literature:


High bone mass osteogenesis imperfecta
COL1A1 COL1A2
Atelosteogenesis type I
FLNB



High bone mass osteogenesis imperfecta
Atelosteogenesis type I

Synonym(s):
- High bone mass OI

Synonym(s):
- AO1
- AOI
- Giant cell chondrodysplasia
- Spondylo-humero-femoral dysplasia

Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare maxillo-facial surgical disease
- Rare otorhinolaryngologic disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
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: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: before age 5
Type of inheritance: autosomal dominant

External references:
No OMIM references
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: C535396

No signs/symptoms info available.