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Combined oxidative phosphorylation defect type 13
1 OMIM reference -
1 associated gene
5 connected diseases
No signs/symptoms info
Disease Type of connection
Autosomal recessive nonsyndromic sensorineural deafness type DFNB
Autosomal dominant hypohidrotic ectodermal dysplasia
Autosomal dominant Charcot-Marie-Tooth disease type 2F
Distal hereditary motor neuropathy type 2
Isolated polycystic liver disease
Synonym(s):
- COXPD13
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
Classification (ICD10):
- Diseases of the nervous system -
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
PNPT1 Q8TCS8610316
No signs/symptoms info available.