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1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
11 associated genes
No signs/symptoms info
Distal 17p13.3 microdeletion syndrome
Isolated cytochrome C oxidase deficiency

YWHAE CEP89
COA5
COX14
COX20
COX6B1
FASTKD2
MT-CO1
MT-CO2
MT-CO3
NDUFA4
PET100


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
YWHAE
(0.63)
MT-CO2



Citations in the biomedical literature:


Distal 17p13.3 microdeletion syndrome
YWHAE
Isolated cytochrome C oxidase deficiency
CEP89 COA5 COX14 COX20 COX6B1 FASTKD2
MT-CO1 MT-CO2 MT-CO3 NDUFA4 PET100



Distal 17p13.3 microdeletion syndrome
Isolated cytochrome C oxidase deficiency

Synonym(s):
- Distal del(17)(p13.3 )
- Distal monosomy 17p13.3

Synonym(s):
- Isolated COX deficiency
- Isolated mitochondrial respiratory chain complex IV deficiency

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
(no data available)

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

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

No signs/symptoms info available.