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 Behavioral & Substance Use Disorder 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:amyotrophic lateral sclerosis type 8
go back to main search page
Accession:DOID:0050752 term browser browse the term
Definition:An amyotrophic lateral sclerosis that has_material_basis_in mutation in the VAPB gene on chromosome 20. (DO)
Synonyms:exact_synonym: ALS8;   amyotrophic lateral sclerosis 8
 xref: GARD:10499;   MESH:C563895;   MIM:608627;   MONDO:0012077;   NCI:C168751


show annotations for term's descendants           Sort by:
amyotrophic lateral sclerosis type 8 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apcdd1l APC down-regulated 1 like ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 8 ClinVar PMID:28492532 NCBI chr 3:162,587,484...162,658,362
Ensembl chr 3:183,000,521...183,076,339 		JBrowse link
G Atp5f1e ATP synthase F1 subunit epsilon ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 8 ClinVar PMID:28492532 NCBI chr 3:183,677,270...183,680,172
Ensembl chr 3:183,677,273...183,680,214 		JBrowse link
G Ctsz cathepsin Z ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 8 ClinVar PMID:28492532 NCBI chr 3:183,643,077...183,653,847
Ensembl chr 3:183,643,077...183,657,012 		JBrowse link
G Edn3 endothelin 3 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 8 ClinVar PMID:28492532 NCBI chr 3:183,980,458...184,004,958
Ensembl chr 3:183,980,668...184,005,329 		JBrowse link
G Gnas GNAS complex locus ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 8 ClinVar PMID:28492532 NCBI chr 3:183,489,648...183,554,570
Ensembl chr 3:183,503,243...183,554,536 		JBrowse link
G Mir296 microRNA 296 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 8 ClinVar PMID:28492532 NCBI chr 3:183,470,069...183,470,146 JBrowse link
G Mir298 microRNA 298 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 8 ClinVar PMID:28492532 NCBI chr 3:163,052,291...163,052,372 JBrowse link
G Nelfcd negative elongation factor complex member C/D ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 8 ClinVar PMID:28492532 NCBI chr 3:163,213,765...163,224,886
Ensembl chr 3:183,631,968...183,643,088 		JBrowse link
G Npepl1 aminopeptidase-like 1 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 8 ClinVar PMID:28492532 NCBI chr 3:162,893,932...162,906,491
Ensembl chr 3:183,312,185...183,324,744 		JBrowse link
G Prelid3b PRELI domain containing 3B ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 8 ClinVar PMID:28492532 NCBI chr 3:163,263,059...163,271,055
Ensembl chr 3:183,681,255...183,689,289 		JBrowse link
G Stx16 syntaxin 16 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 8 ClinVar PMID:28492532 NCBI chr 3:162,853,764...162,882,489
Ensembl chr 3:183,272,031...183,300,745 		JBrowse link
G Tubb1 tubulin, beta 1 class VI ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 8 ClinVar PMID:28492532 NCBI chr 3:183,666,189...183,675,656
Ensembl chr 3:183,666,242...183,674,795 		JBrowse link
G Vapb VAMP associated protein B and C ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 8 		OMIM
CTD
ClinVar		 PMID:9536098 PMID:15372378 PMID:16187141 PMID:16199547 PMID:16967488 More... NCBI chr 3:182,954,247...182,997,018
Ensembl chr 3:182,954,240...183,028,619 		JBrowse link
G Zfp831 zinc finger protein 831 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 8 ClinVar PMID:28492532 NCBI chr 3:163,393,787...163,510,654
Ensembl chr 3:183,811,648...183,927,253 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    Nutritional and Metabolic Diseases 8574
      disease of metabolism 8574
        Proteostasis Deficiencies 818
          TDP-43 Proteinopathies 436
            amyotrophic lateral sclerosis 398
              amyotrophic lateral sclerosis type 8 14
Path 2
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      nervous system disease 14369
        peripheral nervous system disease 4409
          neuropathy 4194
            neuromuscular disease 3236
              motor neuron disease 551
                MOTOR NEURON ATROPHY 398
                  amyotrophic lateral sclerosis 398
                    amyotrophic lateral sclerosis type 8 14
paths to the root