Log In|Sign Up
ENCombined Oxidative Phosphorylation Deficiency 34 (COXPD34)
Alias:
Coxpd34
Syndromic Sensorineural Deafness Due to Combined Oxidative Phosphorylation Defect
Syndromic Sensorineural Hearing Loss Due to Coxpd
Syndromic Sensorineural Deafness Due to Coxpd
Combined Oxidative Phosphorylation Deficiency, Type 34
Favorite
Combined Oxidative Phosphorylation Deficiency 34, is also known as coxpd34. An important gene associated with Combined Oxidative Phosphorylation Deficiency 34 is MRPS7 (Mitochondrial Ribosomal Protein S7). Affiliated tissues include liver and bone marrow, and related phenotypes are hypoglycemia and hepatic steatosis
Related ID：
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
Medical Symptom
#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
Gene & Mutation
#
Gene
Function
Score
Mutations
Related Drugs
Name
CAS Number
Status
Phase
Disease Model
Category
Name
MGI
Related Gene
Strain of Origin
Publications
References Literature
Title
PMID
Journal
Year
IF
