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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
5 OMIM references -
5 associated genes
No signs/symptoms info
Hyper-IgM syndrome type 2
Autosomal dominant progressive external ophthalmoplegia

AICDA C10ORF2
POLG
POLG2
RRM2B
SLC25A4


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
AICDA
(0.63)
RRM2B



Citations in the biomedical literature:


Hyper-IgM syndrome type 2
AICDA
Autosomal dominant progressive external ophthalmoplegia
C10ORF2 POLG POLG2 RRM2B SLC25A4



Hyper-IgM syndrome type 2
Autosomal dominant progressive external ophthalmoplegia

Synonym(s):
- AID deficiency
- Activation-induced cytidine deaminase deficiency
- HIGM2

Synonym(s):
- adPEO

Classification (Orphanet):
- Rare genetic disease
- Rare immune disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease

Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Classification (ICD10):
- Diseases of the eye and adnexa -

Epidemiological data:
(no data available)
Epidemiological data:
(no data available)

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

No signs/symptoms info available.