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Combined oxidative phosphorylation defect type 14
1 OMIM reference -
1 associated gene
2 connected diseases
No signs/symptoms info
Disease Type of connection
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
Pseudohypoaldosteronism type 2E
Synonym(s):
- COXPD14
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
FARS2 O95363611592
No signs/symptoms info available.