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7 OMIM references -
7 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
4 associated genes
No signs/symptoms info
Pulverulent cataract
Severe congenital nemaline myopathy

CRYBB1 ACTA1
CRYGC KLHL40
GJA3 KLHL41
GJA8 NEB
LIM2
MAF
VIM


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
VIM
(0.72)
ACTA1



Citations in the biomedical literature:


Pulverulent cataract
CRYBB1 CRYGC GJA3 GJA8 LIM2 MAF
VIM
Severe congenital nemaline myopathy
ACTA1 KLHL40 KLHL41 NEB



Pulverulent cataract
Severe congenital nemaline myopathy

Synonym(s):
- Dusty cataract

Synonym(s):
(no synonyms)

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: neonatal/infancy
Average age of death: child / adolescent
Type of inheritance: autosomal recessive

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

No signs/symptoms info available.