Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes QTLs Strains Markers Genome Information Ontologies Cell Lines References FTP Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) RatMine GViewer (Genome Viewer) Overgo Probe Designer ACP Haplotyper Genome Scanner
Aging & Age-Related Disease Cancer Cardiovascular Disease COVID-19 Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models PhenoMiner (Quantitative Phenotypes) Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes GERRC (Gene Editing Rat Resource Center) 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 Poster Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

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:autosomal recessive distal hereditary motor neuronopathy
go back to main search page
Accession:DOID:0111197 term browser browse the term
Definition:A spinal muscular atrophy that has_material_basis_in autosomal recessive inheritance. (DO)
Synonyms:exact_synonym: autosomal recessive distal spinal muscular atrophy
 xref: ORDO:140468
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants           Sort by:
 
distal spinal muscular atrophy 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ighmbp2 immunoglobulin mu DNA binding protein 2 ISO DNA:mutations:multiple (human)
ClinVar Annotator: match by term: Spinal muscular atrophy, distal, autosomal recessive, 1
ClinVar Annotator: match by OMIM:604320		 ClinVar
OMIM		 PMID:234316 PMID:11528396 PMID:14506069 PMID:14681881 PMID:15108294 PMID:15248100 PMID:15503272 PMID:15599641 PMID:15797190 PMID:16765827 PMID:16964485 PMID:17431882 PMID:18802676 PMID:19157874 PMID:19158098 PMID:20031928 PMID:21353777 PMID:21902652 PMID:22157136 PMID:22791546 PMID:23449687 PMID:23566544 PMID:23806086 PMID:23929295 PMID:24022109 PMID:24033266 PMID:24088041 PMID:24388491 PMID:25326635 PMID:25439726 PMID:25454169 PMID:25568292 PMID:25741868 PMID:26136520 PMID:26257172 PMID:26298607 PMID:26392352 PMID:26467025 PMID:26709713 PMID:26922252 PMID:27450922 PMID:28065684 PMID:28202949 PMID:28251916 PMID:28397221 PMID:28492532 PMID:28902413 PMID:29858556 PMID:30598237 PMID:32488064, PMID:11528396 RGD:737748 NCBI chr 1:218,509,274...218,531,922
Ensembl chr 1:218,508,950...218,532,142 		JBrowse link
distal spinal muscular atrophy 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arhgef39 Rho guanine nucleotide exchange factor 39 ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 ClinVar PMID:28492532 NCBI chr 5:58,998,209...59,001,779
Ensembl chr 5:58,995,249...59,001,800 		JBrowse link
G Arid3c AT-rich interaction domain 3C ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 ClinVar PMID:28492532 NCBI chr 5:58,107,182...58,114,632
Ensembl chr 5:58,107,707...58,113,553 		JBrowse link
G Ca9 carbonic anhydrase 9 ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 ClinVar PMID:28492532 NCBI chr 5:59,008,277...59,015,535
Ensembl chr 5:59,008,933...59,015,528 		JBrowse link
G Ccdc107 coiled-coil domain containing 107 ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 ClinVar PMID:28492532 NCBI chr 5:58,995,211...58,998,620
Ensembl chr 5:58,995,249...58,997,953 		JBrowse link
G Ccin calicin ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 ClinVar PMID:28492532 NCBI chr 5:59,452,348...59,454,235
Ensembl chr 5:59,452,348...59,454,233 		JBrowse link
G Ccl19 C-C motif chemokine ligand 19 ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 ClinVar PMID:28492532 NCBI chr 5:58,181,025...58,182,969
Ensembl chr 5:58,181,026...58,183,017 		JBrowse link
G Ccl21 C-C motif chemokine ligand 21 ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 ClinVar PMID:28492532 NCBI chr 5:58,197,678...58,198,782
Ensembl chr 5:58,197,680...58,198,782 		JBrowse link
G Ccl27 C-C motif chemokine ligand 27 ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 ClinVar PMID:28492532 NCBI chr 5:58,159,066...58,166,182
Ensembl chr 5:58,159,066...58,163,584 		JBrowse link
G Cd72 Cd72 molecule ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 ClinVar PMID:28492532 NCBI chr 5:58,943,021...58,950,373
Ensembl chr 5:58,943,027...58,950,373 		JBrowse link
G Clta clathrin, light chain A ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 ClinVar PMID:28492532 NCBI chr 5:59,490,689...59,509,139
Ensembl chr 5:59,491,096...59,509,138 		JBrowse link
G Cntfr ciliary neurotrophic factor receptor ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 ClinVar PMID:28492532 NCBI chr 5:58,041,114...58,078,687
Ensembl chr 5:58,041,146...58,078,545 		JBrowse link
G Creb3 cAMP responsive element binding protein 3 ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 ClinVar PMID:28492532 NCBI chr 5:59,063,532...59,068,196
Ensembl chr 5:59,063,531...59,068,188 		JBrowse link
G Dctn3 dynactin subunit 3 ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 ClinVar PMID:28492532 NCBI chr 5:58,098,706...58,106,706
Ensembl chr 5:58,098,706...58,106,706 		JBrowse link
G Dnai1 dynein, axonemal, intermediate chain 1 ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 ClinVar PMID:28492532 NCBI chr 5:57,947,796...58,017,985
Ensembl chr 5:57,947,716...58,017,992 		JBrowse link
G Dnajb5 DnaJ heat shock protein family (Hsp40) member B5 ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 ClinVar PMID:28492532 NCBI chr 5:58,393,197...58,402,162
Ensembl chr 5:58,393,233...58,401,870 		JBrowse link
G Enho energy homeostasis associated ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 ClinVar PMID:28492532 NCBI chr 5:58,018,039...58,019,836
Ensembl chr 5:58,018,039...58,019,836 		JBrowse link
G Fam166b family with sequence similarity 166, member B ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 ClinVar PMID:28492532 NCBI chr 5:58,883,064...58,884,136 JBrowse link
G Fam205a family with sequence similarity 205, member A ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 ClinVar PMID:28492532 NCBI chr 5:58,282,202...58,303,075
Ensembl chr 5:58,282,379...58,288,125 		JBrowse link
G Fam214b family with sequence similarity 214, member B ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 ClinVar PMID:28492532 NCBI chr 5:58,477,894...58,484,900
Ensembl chr 5:58,477,894...58,484,900 		JBrowse link
G Fam221b family with sequence similarity 221, member B ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 ClinVar PMID:28492532 NCBI chr 5:59,156,079...59,165,440
Ensembl chr 5:59,156,071...59,165,160 		JBrowse link
G Fancg FA complementation group G ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 ClinVar PMID:28492532 NCBI chr 5:58,448,060...58,456,416
Ensembl chr 5:58,448,822...58,455,819 		JBrowse link
G Galt galactose-1-phosphate uridylyltransferase ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 ClinVar PMID:28492532 NCBI chr 5:58,144,679...58,147,946
Ensembl chr 5:58,144,705...58,147,929 		JBrowse link
G Gba2 glucosylceramidase beta 2 ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 ClinVar PMID:28492532 NCBI chr 5:59,068,081...59,079,719
Ensembl chr 5:59,068,081...59,079,719 		JBrowse link
G Glipr2 GLI pathogenesis-related 2 ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 ClinVar PMID:28492532 NCBI chr 5:59,415,415...59,446,732
Ensembl chr 5:59,416,076...59,446,647 		JBrowse link
G Gne glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 ClinVar PMID:28492532 NCBI chr 5:59,511,738...59,553,421
Ensembl chr 5:59,512,872...59,553,416 		JBrowse link
G Hint2 histidine triad nucleotide binding protein 2 ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 ClinVar PMID:28492532 NCBI chr 5:59,150,344...59,152,599
Ensembl chr 5:59,150,345...59,152,599 		JBrowse link
G Hrct1 histidine rich carboxyl terminus 1 ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 ClinVar PMID:28492532 NCBI chr 5:59,228,138...59,228,915
Ensembl chr 5:59,228,199...59,228,519 		JBrowse link
G Il11ra1 interleukin 11 receptor subunit alpha 1 ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 ClinVar PMID:28492532 NCBI chr 5:58,149,150...58,159,072
Ensembl chr 5:58,151,985...58,159,072 		JBrowse link
G LOC100360821 rCG55159-like ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 ClinVar PMID:28492532 NCBI chr 5:58,416,058...58,421,991
Ensembl chr 5:58,416,432...58,420,342 		JBrowse link
G Msmp microseminoprotein, prostate associated ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 ClinVar PMID:28492532 Ensembl chr 5:59,084,626...59,085,676 JBrowse link
G Npr2 natriuretic peptide receptor 2 ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 ClinVar PMID:28492532 NCBI chr 5:59,128,186...59,147,321
Ensembl chr 5:59,128,315...59,147,255 		JBrowse link
G Olr834 olfactory receptor 834 ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 ClinVar PMID:28492532 NCBI chr 5:59,207,120...59,208,058
Ensembl chr 5:59,207,120...59,208,058 		JBrowse link
G Olr838 olfactory receptor 838 ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 ClinVar PMID:28492532 NCBI chr 5:59,291,988...59,292,944
Ensembl chr 5:59,291,988...59,292,944 		JBrowse link
G Phf24 PHD finger protein 24 ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 ClinVar PMID:28492532 NCBI chr 5:58,359,744...58,387,446
Ensembl chr 5:58,359,498...58,383,070 		JBrowse link
G Pigo phosphatidylinositol glycan anchor biosynthesis, class O ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 ClinVar PMID:28492532 NCBI chr 5:58,461,055...58,470,699
Ensembl chr 5:58,461,759...58,469,399 		JBrowse link
G Reck reversion-inducing-cysteine-rich protein with kazal motifs ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 ClinVar PMID:28492532 NCBI chr 5:59,348,568...59,415,169
Ensembl chr 5:59,348,639...59,415,135 		JBrowse link
G Rgp1 RGP1 homolog, RAB6A GEF complex partner 1 ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 ClinVar PMID:28492532 NCBI chr 5:59,080,290...59,088,777
Ensembl chr 5:59,080,765...59,088,523 		JBrowse link
G Rpp25l ribonuclease P/MRP subunit p25 like ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 ClinVar PMID:28492532 NCBI chr 5:58,096,037...58,097,577
Ensembl chr 5:58,096,213...58,097,577 		JBrowse link
G Rusc2 RUN and SH3 domain containing 2 ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 ClinVar PMID:28492532 NCBI chr 5:58,860,444...58,883,152
Ensembl chr 5:58,855,773...58,882,096 		JBrowse link
G Sigmar1 sigma non-opioid intracellular receptor 1 ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 ClinVar
OMIM		 PMID:24088041 PMID:25741868 PMID:26078401 PMID:26467025 PMID:26633545 PMID:27629094 PMID:28492532 PMID:28708278 NCBI chr 5:58,121,824...58,124,687
Ensembl chr 5:58,121,786...58,124,681 		JBrowse link
G Sit1 signaling threshold regulating transmembrane adaptor 1 ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 ClinVar PMID:28492532 NCBI chr 5:58,985,912...58,987,538
Ensembl chr 5:58,985,829...58,987,760 		JBrowse link
G Spag8 sperm associated antigen 8 ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 ClinVar PMID:28492532 NCBI chr 5:59,147,412...59,149,625
Ensembl chr 5:59,147,337...59,149,699 		JBrowse link
G Stoml2 stomatin like 2 ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 ClinVar PMID:28492532 NCBI chr 5:58,472,561...58,476,158
Ensembl chr 5:58,472,550...58,476,251 		JBrowse link
G Tesk1 testis associated actin remodelling kinase 1 ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 ClinVar PMID:28492532 NCBI chr 5:58,937,615...58,943,358
Ensembl chr 5:58,937,615...58,943,358 		JBrowse link
G Tln1 talin 1 ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 ClinVar PMID:28492532 NCBI chr 5:59,033,635...59,063,592
Ensembl chr 5:59,033,636...59,063,592 		JBrowse link
G Tmem8b transmembrane protein 8B ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 ClinVar PMID:28492532 NCBI chr 5:59,165,552...59,193,772
Ensembl chr 5:59,178,846...59,191,975 		JBrowse link
G Tpm2 tropomyosin 2 ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 ClinVar PMID:28492532 NCBI chr 5:59,016,616...59,025,971
Ensembl chr 5:59,016,622...59,025,631 		JBrowse link
G Unc13b unc-13 homolog B ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 ClinVar PMID:28492532 NCBI chr 5:58,505,449...58,714,396
Ensembl chr 5:58,505,500...58,715,576 		JBrowse link
G Vcp valosin-containing protein ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 ClinVar PMID:28492532 NCBI chr 5:58,426,548...58,445,953
Ensembl chr 5:58,426,549...58,445,953 		JBrowse link
distal spinal muscular atrophy type 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Plekhg5 pleckstrin homology and RhoGEF domain containing G5 ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 4
ClinVar Annotator: match by OMIM:611067		 OMIM
ClinVar		 PMID:16728649 PMID:17564964 PMID:23777631 PMID:23844677 PMID:25741868 PMID:26392352 PMID:26752306 PMID:28492532 NCBI chr 5:169,244,778...169,288,310
Ensembl chr 5:169,244,778...169,288,309 		JBrowse link
G Tnfrsf25 TNF receptor superfamily member 25 ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 4 ClinVar NCBI chr 5:169,288,419...169,293,137
Ensembl chr 5:169,288,871...169,293,137 		JBrowse link
distal spinal muscular atrophy type 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Des desmin ISO ClinVar Annotator: match by term: Spinal muscular atrophy, distal, autosomal recessive, 5 ClinVar PMID:28492532 NCBI chr 9:82,556,574...82,564,288
Ensembl chr 9:82,556,573...82,564,294 		JBrowse link
G Dnajb2 DnaJ heat shock protein family (Hsp40) member B2 ISO ClinVar Annotator: match by OMIM:614881
ClinVar Annotator: match by term: Spinal muscular atrophy, distal, autosomal recessive, 5		 OMIM
ClinVar		 PMID:22522442 PMID:23806086 PMID:24088041 PMID:24627108 PMID:25274842 PMID:25741868 PMID:26257172 PMID:27083531 PMID:27449489 PMID:28492532 NCBI chr 9:82,436,453...82,444,669
Ensembl chr 9:82,436,458...82,444,668 		JBrowse link
G Dnpep aspartyl aminopeptidase ISO ClinVar Annotator: match by term: Spinal muscular atrophy, distal, autosomal recessive, 5 ClinVar PMID:28492532 NCBI chr 9:82,505,529...82,514,399
Ensembl chr 9:82,505,530...82,514,399 		JBrowse link
G Ptprn protein tyrosine phosphatase, receptor type, N ISO ClinVar Annotator: match by term: Spinal muscular atrophy, distal, autosomal recessive, 5 ClinVar PMID:28492532 NCBI chr 9:82,446,626...82,462,314
Ensembl chr 9:82,446,633...82,461,903 		JBrowse link
G Resp18 regulated endocrine-specific protein 18 ISO ClinVar Annotator: match by term: Spinal muscular atrophy, distal, autosomal recessive, 5 ClinVar PMID:28492532 NCBI chr 9:82,470,794...82,477,136
Ensembl chr 9:82,470,759...82,477,181 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      nervous system disease 10949
        neurodegenerative disease 3216
          motor neuron disease 378
            spinal muscular atrophy 126
              autosomal recessive distal hereditary motor neuronopathy 57
                distal spinal muscular atrophy 1 1
                distal spinal muscular atrophy 2 49
                distal spinal muscular atrophy type 3 0
                distal spinal muscular atrophy type 4 2
                distal spinal muscular atrophy type 5 5
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      nervous system disease 10949
        peripheral nervous system disease 2425
          neuropathy 2243
            neuromuscular disease 1763
              motor neuron disease 378
                spinal muscular atrophy 126
                  autosomal recessive distal hereditary motor neuronopathy 57
                    distal spinal muscular atrophy 1 1
                    distal spinal muscular atrophy 2 49
                    distal spinal muscular atrophy type 3 0
                    distal spinal muscular atrophy type 4 2
                    distal spinal muscular atrophy type 5 5
paths to the root