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)

RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:Brody myopathy
go back to main search page
Accession:DOID:0050692 term browser browse the term
Definition:A neuromuscular disease is characterized by difficulty relaxing muscles and muscle stiffness following exercise or other strenuous activity and is located in skeletal muscles. (DO)
Synonyms:exact_synonym: Brody disease;   autosomal recessive Brody myopathy
 xref: GARD:9158;   MESH:C536607;   MIM:601003;   MONDO:0010977


show annotations for term's descendants           Sort by:
Brody myopathy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apobr apolipoprotein B receptor ISO ClinVar Annotator: match by term: Brody myopathy ClinVar PMID:8841193 PMID:10914677 PMID:23911890 PMID:28492532 PMID:32040565 NCBI chr 1:190,599,595...190,603,782
Ensembl chr 1:181,168,916...181,173,528 		JBrowse link
G Atp2a1 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 ISO ClinVar Annotator: match by term: Brody myopathy
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD
RGD		 PMID:8841193 PMID:9367679 PMID:9536098 PMID:10914677 PMID:15083169 More... RGD:734618 NCBI chr 1:190,457,198...190,475,410
Ensembl chr 1:181,026,608...181,044,838 		JBrowse link
G Atxn2l ataxin 2-like ISO ClinVar Annotator: match by term: Brody myopathy ClinVar PMID:8841193 PMID:10914677 PMID:17882224 PMID:23911890 PMID:24707176 More... NCBI chr 1:190,508,878...190,526,263
Ensembl chr 1:181,078,288...181,089,686 		JBrowse link
G Cd19 CD19 molecule ISO ClinVar Annotator: match by term: Brody myopathy ClinVar PMID:8841193 PMID:10914677 PMID:23911890 PMID:28492532 PMID:32040565 NCBI chr 1:190,417,853...190,424,494
Ensembl chr 1:180,987,286...180,993,975 		JBrowse link
G Cln3 CLN3 lysosomal/endosomal transmembrane protein, battenin ISO ClinVar Annotator: match by term: Brody myopathy ClinVar PMID:8841193 PMID:10914677 PMID:23911890 PMID:28492532 PMID:32040565 NCBI chr 1:190,586,649...190,600,034
Ensembl chr 1:181,156,073...181,167,434 		JBrowse link
G Eif3c eukaryotic translation initiation factor 3, subunit C ISO ClinVar Annotator: match by term: Brody myopathy ClinVar PMID:8841193 PMID:10914677 PMID:23911890 PMID:28492532 PMID:32040565 NCBI chr 1:190,565,183...190,583,067
Ensembl chr 1:181,134,604...181,152,493 		JBrowse link
G Il27 interleukin 27 ISO ClinVar Annotator: match by term: Brody myopathy ClinVar PMID:8841193 PMID:10914677 PMID:23911890 PMID:28492532 PMID:32040565 NCBI chr 1:190,603,684...190,609,292
Ensembl chr 1:181,173,372...181,178,582 		JBrowse link
G Lat linker for activation of T cells ISO ClinVar Annotator: match by term: Brody myopathy ClinVar PMID:8841193 PMID:10914677 PMID:23911890 PMID:28492532 PMID:32040565 NCBI chr 1:190,367,111...190,372,515
Ensembl chr 1:180,936,534...180,941,578 		JBrowse link
G Nfatc2ip nuclear factor of activated T-cells 2 interacting protein ISO ClinVar Annotator: match by term: Brody myopathy ClinVar PMID:8841193 PMID:10914677 PMID:23911890 PMID:28492532 PMID:32040565 NCBI chr 1:190,385,416...190,403,309
Ensembl chr 1:180,955,043...180,971,747 		JBrowse link
G Nupr1 nuclear protein 1, transcriptional regulator ISO ClinVar Annotator: match by term: Brody myopathy ClinVar PMID:8841193 PMID:10914677 PMID:23911890 PMID:28492532 PMID:32040565 NCBI chr 1:190,643,866...190,645,901
Ensembl chr 1:181,213,368...181,215,281 		JBrowse link
G Rabep2 rabaptin, RAB GTPase binding effector protein 2 ISO ClinVar Annotator: match by term: Brody myopathy ClinVar PMID:8841193 PMID:10914677 PMID:23911890 PMID:25741868 PMID:28492532 More... NCBI chr 1:190,433,501...190,457,241
Ensembl chr 1:181,010,305...181,026,648 		JBrowse link
G Sgf29 SAGA complex associated factor 29 ISO ClinVar Annotator: match by term: Brody myopathy ClinVar PMID:8841193 PMID:10914677 PMID:23911890 PMID:28492532 PMID:32040565 NCBI chr 1:190,668,803...190,702,500
Ensembl chr 1:181,238,468...181,274,781 		JBrowse link
G Sh2b1 SH2B adaptor protein 1 ISO ClinVar Annotator: match by term: Brody myopathy ClinVar PMID:8841193 PMID:10914677 PMID:17882224 PMID:23911890 PMID:24707176 More... NCBI chr 1:190,479,211...190,492,030
Ensembl chr 1:181,048,623...181,056,579 		JBrowse link
G Spns1 SPNS lysolipid transporter 1, lysophospholipid ISO ClinVar Annotator: match by term: Brody myopathy ClinVar PMID:8841193 PMID:10914677 PMID:23911890 PMID:28492532 PMID:32040565 NCBI chr 1:190,372,663...190,380,192
Ensembl chr 1:180,942,088...180,949,370 		JBrowse link
G Sult1a1 sulfotransferase family 1A member 1 ISO ClinVar Annotator: match by term: Brody myopathy ClinVar PMID:8841193 PMID:10914677 PMID:23911890 PMID:28492532 PMID:32040565 NCBI chr 1:190,702,592...190,706,112
Ensembl chr 1:181,272,023...181,275,562 		JBrowse link
G Tufm Tu translation elongation factor, mitochondrial ISO ClinVar Annotator: match by term: Brody myopathy ClinVar PMID:8841193 PMID:10914677 PMID:17882224 PMID:23911890 PMID:24707176 More... NCBI chr 1:190,504,373...190,507,980
Ensembl chr 1:181,073,788...181,077,395 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19139
    disease of anatomical entity 18451
      musculoskeletal system disease 8462
        muscular disease 2233
          muscle tissue disease 1358
            atrophic muscular disease 21
              Brody myopathy 16
Path 2
Term Annotations click to browse term
  disease 19139
    disease of anatomical entity 18451
      nervous system disease 14361
        peripheral nervous system disease 4399
          neuropathy 4187
            neuromuscular disease 3226
              muscular disease 2233
                muscle tissue disease 1358
                  atrophic muscular disease 21
                    Brody myopathy 16
paths to the root