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Total congenital cataract
7 OMIM references -
5 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Autosomal dominant Charcot-Marie-Tooth disease type 2F
1 OMIM reference -
1 associated gene
No signs/symptoms info
Total congenital cataract
Autosomal dominant Charcot-Marie-Tooth disease type 2F

CRYBB2
(UniProt - OMIM)
 HSPB1
(UniProt - OMIM)
CRYGB
(UniProt - OMIM)
EPHA2
(UniProt - OMIM)
MIP
(UniProt - OMIM)
NHS
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
CRYBB2
(0.78)
HSPB1


Citations in the biomedical literature:


Total congenital cataract
CRYBB2 CRYGB EPHA2 MIP NHS
Autosomal dominant Charcot-Marie-Tooth disease type 2F
HSPB1



Total congenital cataract
Autosomal dominant Charcot-Marie-Tooth disease type 2F

Synonym(s):
(no synonyms)

Synonym(s):
- CMT2F
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Diseases of the nervous system -
Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: adolescence / young
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.