Cytoscape Web
Click node...


1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
3 associated genes
No signs/symptoms info
Combined oxidative phosphorylation defect type 4
17q11 microdeletion syndrome

TUFM NF1
RNF135
SUZ12


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
TUFM
(0.63)
SUZ12



Citations in the biomedical literature:


Combined oxidative phosphorylation defect type 4
TUFM
17q11 microdeletion syndrome
NF1 RNF135 SUZ12



Combined oxidative phosphorylation defect type 4
17q11 microdeletion syndrome

Synonym(s):
- COXPD4

Synonym(s):
- Del(17)(q11)
- Monosomy 17q11
- NF1 microdeletion syndrome
- Neurofibromatosis type 1 microdeletion syndrome

Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
Classification (Orphanet):
- Rare circulatory system disease
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
- Rare oncologic disease
- Rare renal disease
- Rare skin disease

Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: -
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
(no data available)

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

No signs/symptoms info available.