Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)

GENE - TERM ANNOTATION REPORT

RGD ID: 18412284
Species: Chlorocebus sabaeus
RGD Object: Gene
Symbol: ETFB
Name: electron transfer flavoprotein subunit beta
Acc ID: DOID:0060358
Term: multiple acyl-CoA dehydrogenase deficiency
Definition: An inherited metabolic disorder characterized by the body's inability to break down proteins and fats to produce energy. It is a disorder of fatty acid, amino acid, and choline metabolism and has an autosomal recessive inheritance pattern. It has_material_basis_in mutations in the ETFA, ETFB and ETFDH genes. It presents three clinical phenotypes: a neonatal-onset form with congenital anomalies (type I), a neonatal-onset form without congenital anomalies (type II), and a late-onset form (type III). The neonatal-onset forms are usually fatal. (DO)
Definition Source(s): http://ghr.nlm.nih.gov/condition/glutaric-acidemia-type-ii "DO" "DO", https://en.wikipedia.org/wiki/Glutaric_acidemia_type_2 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/12815589 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/22580358 "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)
ETFB ISOETFB (Homo sapiens)7240710OMIM  
ETFB ISOETFB (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Glutaric acidemia IIb | ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiencyPMID:12706375 PMID:12815589 PMID:16199547 PMID:16510302 PMID:17576681 PMID:17638024 PMID:18289905 PMID:19088074 PMID:19763152 PMID:20307669 PMID:20674745 PMID:22406018 PMID:22588007 PMID:23785301 PMID:24033266 PMID:24215330 PMID:25741868 PMID:27081516 PMID:28492532 PMID:30626930 PMID:31418342 PMID:31589614 PMID:32778825 PMID:35095998 PMID:7912128 PMID:9350306 PMID:9536098
Go Back to source page   Continue to Ontology report