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1 OMIM reference -
1 associated gene
No signs/symptoms info
COMMON GENES: 1
PROTEIN INTERACTIONS: 1
4 OMIM references -
5 associated genes
No signs/symptoms info
Ehlers-Danlos syndrome, cardiac valvular type
Osteogenesis imperfecta type 2

COL1A2 COL1A1
COL1A2
CRTAP
LEPRE1
PPIB


COMMON
GENES
COL1A2


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Ehlers-Danlos syndrome, cardiac valvular type
COL1A2
Osteogenesis imperfecta type 2
COL1A1 CRTAP LEPRE1 PPIB



Ehlers-Danlos syndrome, cardiac valvular type
Osteogenesis imperfecta type 2

Synonym(s):
- EDS, cardiac valvular type

Synonym(s):
- Lethal osteogenesis imperfecta
- OI type 2

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 bone disease
- Rare developmental defect during embryogenesis
- Rare genetic 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: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
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:
1 OMIM reference -
No MeSH references
External references:
4 OMIM references -
No MeSH references

No signs/symptoms info available.