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1 OMIM reference -
3 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 3
1 OMIM reference -
1 associated gene
No signs/symptoms info
Immunodeficiency by defective expression of HLA class 1
Chorioretinopathy, Birdshot type

TAP1 HLA-A
TAP2
TAPBP


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
TAPBP
TAP1
TAP2
(0.84)
(0.82)
(0.63)
HLA-A
HLA-A
HLA-A



Citations in the biomedical literature:


Immunodeficiency by defective expression of HLA class 1
TAP1 TAP2 TAPBP
Chorioretinopathy, Birdshot type
HLA-A



Immunodeficiency by defective expression of HLA class 1
Chorioretinopathy, Birdshot type

Synonym(s):
- Bare lymphocyte syndrome type 1

Synonym(s):
(no synonyms)

Classification (Orphanet):
- Rare genetic disease
- Rare immune disease
Classification (Orphanet):
- Rare eye 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:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: unknown
Average age onset: adulthood
Average age of death: normal
Type of inheritance: unknown

External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: C537630

No signs/symptoms info available.