Cytoscape Web
Click node...


1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
7 OMIM references -
9 associated genes
No signs/symptoms info
Autosomal dominant rhegmatogenous retinal detachment
Immunodeficiency due to an early component of complement deficiency

COL2A1 C1QA
C1QB
C1QC
C1R
C1S
C2
C4A
C4B
SERPING1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
COL2A1
(0.52)
C1QA



Citations in the biomedical literature:


Autosomal dominant rhegmatogenous retinal detachment
COL2A1
Immunodeficiency due to an early component of complement deficiency
C1QA C1QB C1QC C1R C1S C2
C4A C4B SERPING1



Autosomal dominant rhegmatogenous retinal detachment
Immunodeficiency due to an early component of complement deficiency

Synonym(s):
(no synonyms)

Synonym(s):
- Immunodeficiency due to a C1, C4, or C2 component complement deficiency

Classification (Orphanet):
- Rare eye disease
- Rare genetic disease
Classification (Orphanet):
- Rare genetic disease
- Rare immune disease

Classification (ICD10):
- Diseases of the eye and adnexa -
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: adulthood
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
(no data available)

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

No signs/symptoms info available.