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7 OMIM references -
5 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 associated gene
No signs/symptoms info
Posterior polar cataract
Autosomal dominant limb-girdle muscular dystrophy type 1E

CHMP4B DES
CRYAB
EPHA2
GJA3
PITX3


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
CRYAB
(0.56)
DES



Citations in the biomedical literature:


Posterior polar cataract
CHMP4B CRYAB EPHA2 GJA3 PITX3
Autosomal dominant limb-girdle muscular dystrophy type 1E
DES



Posterior polar cataract
Autosomal dominant limb-girdle muscular dystrophy type 1E

Synonym(s):
- Posterior subcapsular cataract

Synonym(s):
- LGMD1E

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: adulthood
Average age of death: no data available
Type of inheritance: autosomal dominant

External references:
7 OMIM references -
No MeSH references
External references:
No OMIM references
No MeSH references

No signs/symptoms info available.