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6 OMIM references -
9 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
3 associated genes
No signs/symptoms info
Isolated CoQ-cytochrome C reductase deficiency
Immunodeficiency by defective expression of HLA class 1

BCS1L TAP1
CYC1 TAP2
LYRM7 TAPBP
MT-CYB
TTC19
UQCC2
UQCRB
UQCRC2
UQCRQ


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
CYC1
(0.49)
TAP1



Citations in the biomedical literature:


Isolated CoQ-cytochrome C reductase deficiency
BCS1L CYC1 LYRM7 MT-CYB TTC19 UQCC2
UQCRB UQCRC2 UQCRQ
Immunodeficiency by defective expression of HLA class 1
TAP1 TAP2 TAPBP



Isolated CoQ-cytochrome C reductase deficiency
Immunodeficiency by defective expression of HLA class 1

Synonym(s):
- Isolated coenzyme Q-cytochrome C reductase deficiency
- Isolated mitochondrial respiratory chain complex III deficiency
- Isolated ubiquinone-cytochrome C reductase deficiency

Synonym(s):
- Bare lymphocyte syndrome type 1

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

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

Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal recessive

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

No signs/symptoms info available.