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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 2
1 OMIM reference -
3 associated genes
No signs/symptoms info
Pseudohypoaldosteronism type 2E
Proximal spinal muscular atrophy type 2

CUL3 NAIP
SMN1
SMN2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
CUL3
CUL3
(0.63)
(0.63)
SMN1
SMN2



Citations in the biomedical literature:


Pseudohypoaldosteronism type 2E
CUL3
Proximal spinal muscular atrophy type 2
NAIP SMN1 SMN2



Pseudohypoaldosteronism type 2E
Proximal spinal muscular atrophy type 2

Synonym(s):
- PHA2E

Synonym(s):
- Chronic infantile spinal muscular atrophy
- Chronic spinal muscular atrophy
- Intermediate spinal muscular atrophy
- SMA-II
- SMA2

Classification (Orphanet):
- Rare circulatory system disease
- Rare genetic disease
- Rare renal disease
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease

Classification (ICD10):
- Diseases of the circulatory system -
Classification (ICD10):
- Diseases of the nervous system -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive

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

No signs/symptoms info available.