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Estrogen resistance syndrome
1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Severe congenital nemaline myopathy
4 associated genes
No signs/symptoms info
Estrogen resistance syndrome
Severe congenital nemaline myopathy

ESR1
(UniProt - OMIM)
 ACTA1
(UniProt - OMIM)
KLHL40
(UniProt - OMIM)
KLHL41
(UniProt - OMIM)
NEB
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
ESR1
(0.63)
ACTA1


Citations in the biomedical literature:


Estrogen resistance syndrome
ESR1
Severe congenital nemaline myopathy
ACTA1 KLHL40 KLHL41 NEB



Estrogen resistance syndrome
Severe congenital nemaline myopathy

Classification (Orphanet):
(no data available)
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
(no data available)
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:
1 OMIM reference -
No MeSH references
External references:
No OMIM references
No MeSH references
No signs/symptoms info available.