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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
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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:1461881, 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:24922459, 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:30311386, PMID:30598237, 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 16108
    disease of anatomical entity 15356
      nervous system disease 10865
        neurodegenerative disease 3186
          motor neuron disease 371
            spinal muscular atrophy 127
              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 16108
    disease of anatomical entity 15356
      nervous system disease 10865
        peripheral nervous system disease 2472
          neuropathy 2293
            neuromuscular disease 1775
              motor neuron disease 371
                spinal muscular atrophy 127
                  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

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.