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GENE - TERM ANNOTATION REPORT

RGD ID: 18927846
Species: Heterocephalus glaber
RGD Object: Gene
Symbol: Coq8b
Name: coenzyme Q8B
Acc ID: DOID:0080391
Term: nephrotic syndrome type 9
Definition: A familial nephrotic syndrome characterized by steroid-resistant proteinuria, hypoalbuminemia and edema with onset in the first or second decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the COQ8B gene on chromosome 19q13. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/24270420 "DO" "DO"
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
Coq8b ISOCOQ8B (Homo sapiens)7240710OMIM  
Coq8b ISOCOQ8B (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: COQ8B-related condition | ClinVar Annotator: match by term: Nephrotic syndrome, type 9PMID:17576681 PMID:24270420 PMID:25741868 PMID:28204945 PMID:28337616 PMID:28405841 PMID:28454995 PMID:28492532 PMID:29194833 PMID:29382012 PMID:30076350 PMID:31130284 PMID:31328266 PMID:31937884 PMID:32543055 PMID:32604935 PMID:32859164 PMID:32957916 PMID:33084234 PMID:33413146 PMID:33532864 PMID:34172776 PMID:36177613 PMID:36532926 PMID:9536098
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