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7 OMIM references -
5 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Total congenital cataract
Capillary malformation - arteriovenous malformation

CRYBB2 RASA1
CRYGB
EPHA2
MIP
NHS


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
EPHA2
(0.52)
RASA1



Citations in the biomedical literature:


Total congenital cataract
CRYBB2 CRYGB EPHA2 MIP NHS
Capillary malformation - arteriovenous malformation
RASA1



Total congenital cataract
Capillary malformation - arteriovenous malformation

Synonym(s):
(no synonyms)

Synonym(s):
- CM-AVM

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
Classification (Orphanet):
- Rare circulatory system 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:
(no data available)
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant

External references:
7 OMIM references -
1 MeSH reference: C535341
External references:
1 OMIM reference -
No MeSH references

No signs/symptoms info available.