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2 OMIM references -
2 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 2
1 OMIM reference -
1 associated gene
No signs/symptoms info
Familial porencephaly
Chuvash erythrocytosis

COL4A1 VHL
COL4A2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
COL4A1
COL4A2
(0.73)
(0.73)
VHL
VHL



Citations in the biomedical literature:


Familial porencephaly
COL4A1 COL4A2
Chuvash erythrocytosis
VHL



Familial porencephaly
Chuvash erythrocytosis

Synonym(s):
(no synonyms)

Synonym(s):
- Chuvash polycythemia
- Von Hippel-Lindau-dependent polycythemia

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare hematologic disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -

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

External references:
2 OMIM references -
1 MeSH reference: C536850
External references:
1 OMIM reference -
No MeSH references

No signs/symptoms info available.