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4 OMIM references -
3 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Congenital glaucoma
Ehlers-Danlos syndrome, cardiac valvular type

CYP1B1 COL1A2
LTBP2
MYOC


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
MYOC
(0.63)
COL1A2



Citations in the biomedical literature:


Congenital glaucoma
CYP1B1 LTBP2 MYOC
Ehlers-Danlos syndrome, cardiac valvular type
COL1A2



Congenital glaucoma
Ehlers-Danlos syndrome, cardiac valvular type

Synonym(s):
(no synonyms)

Synonym(s):
- EDS, cardiac valvular type

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare skin disease
- Rare surgical cardiac disease
- Rare systemic or rheumatologic disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive

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

No signs/symptoms info available.