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ONTOLOGY REPORT - ANNOTATIONS


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.


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distal spinal muscular atrophy 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ighmbp2 immunoglobulin mu DNA binding protein 2 JBrowse link 1 218,509,274 218,531,922 RGD:737748
RGD:8554872
RGD:7240710
distal spinal muscular atrophy 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arhgef39 Rho guanine nucleotide exchange factor 39 JBrowse link 5 58,998,209 59,001,779 RGD:8554872
G Arid3c AT-rich interaction domain 3C JBrowse link 5 58,107,182 58,114,632 RGD:8554872
G Ca9 carbonic anhydrase 9 JBrowse link 5 59,008,277 59,015,535 RGD:8554872
G Ccdc107 coiled-coil domain containing 107 JBrowse link 5 58,995,211 58,998,620 RGD:8554872
G Ccin calicin JBrowse link 5 59,452,348 59,454,235 RGD:8554872
G Ccl19 C-C motif chemokine ligand 19 JBrowse link 5 58,181,025 58,182,969 RGD:8554872
G Ccl21 C-C motif chemokine ligand 21 JBrowse link 5 58,197,678 58,198,782 RGD:8554872
G Ccl27 C-C motif chemokine ligand 27 JBrowse link 5 58,159,066 58,166,182 RGD:8554872
G Cd72 Cd72 molecule JBrowse link 5 58,943,021 58,950,373 RGD:8554872
G Clta clathrin, light chain A JBrowse link 5 59,490,689 59,509,139 RGD:8554872
G Cntfr ciliary neurotrophic factor receptor JBrowse link 5 58,041,114 58,078,687 RGD:8554872
G Creb3 cAMP responsive element binding protein 3 JBrowse link 5 59,063,532 59,068,196 RGD:8554872
G Dctn3 dynactin subunit 3 JBrowse link 5 58,098,706 58,106,706 RGD:8554872
G Dnai1 dynein, axonemal, intermediate chain 1 JBrowse link 5 57,947,796 58,017,985 RGD:8554872
G Dnajb5 DnaJ heat shock protein family (Hsp40) member B5 JBrowse link 5 58,393,197 58,402,162 RGD:8554872
G Enho energy homeostasis associated JBrowse link 5 58,018,039 58,019,836 RGD:8554872
G Fam166b family with sequence similarity 166, member B JBrowse link 5 58,883,064 58,884,136 RGD:8554872
G Fam205a family with sequence similarity 205, member A JBrowse link 5 58,282,202 58,303,075 RGD:8554872
G Fam214b family with sequence similarity 214, member B JBrowse link 5 58,477,894 58,484,900 RGD:8554872
G Fam221b family with sequence similarity 221, member B JBrowse link 5 59,156,079 59,165,440 RGD:8554872
G Fancg FA complementation group G JBrowse link 5 58,448,060 58,456,416 RGD:8554872
G Galt galactose-1-phosphate uridylyltransferase JBrowse link 5 58,144,679 58,147,946 RGD:8554872
G Gba2 glucosylceramidase beta 2 JBrowse link 5 59,068,081 59,079,719 RGD:8554872
G Glipr2 GLI pathogenesis-related 2 JBrowse link 5 59,415,415 59,446,732 RGD:8554872
G Gne glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase JBrowse link 5 59,511,738 59,553,421 RGD:8554872
G Hint2 histidine triad nucleotide binding protein 2 JBrowse link 5 59,150,344 59,152,599 RGD:8554872
G Hrct1 histidine rich carboxyl terminus 1 JBrowse link 5 59,228,138 59,228,915 RGD:8554872
G Il11ra1 interleukin 11 receptor subunit alpha 1 JBrowse link 5 58,149,150 58,159,072 RGD:8554872
G LOC100360821 rCG55159-like JBrowse link 5 58,416,058 58,421,991 RGD:8554872
G Msmp microseminoprotein, prostate associated RGD:8554872
G Npr2 natriuretic peptide receptor 2 JBrowse link 5 59,128,186 59,147,321 RGD:8554872
G Olr834 olfactory receptor 834 JBrowse link 5 59,207,120 59,208,058 RGD:8554872
G Olr838 olfactory receptor 838 JBrowse link 5 59,291,988 59,292,944 RGD:8554872
G Phf24 PHD finger protein 24 JBrowse link 5 58,359,744 58,387,446 RGD:8554872
G Pigo phosphatidylinositol glycan anchor biosynthesis, class O JBrowse link 5 58,461,055 58,470,699 RGD:8554872
G Reck reversion-inducing-cysteine-rich protein with kazal motifs JBrowse link 5 59,348,568 59,415,169 RGD:8554872
G Rgp1 RGP1 homolog, RAB6A GEF complex partner 1 JBrowse link 5 59,080,290 59,088,777 RGD:8554872
G Rpp25l ribonuclease P/MRP subunit p25 like JBrowse link 5 58,096,037 58,097,577 RGD:8554872
G Rusc2 RUN and SH3 domain containing 2 JBrowse link 5 58,860,444 58,883,152 RGD:8554872
G Sigmar1 sigma non-opioid intracellular receptor 1 JBrowse link 5 58,121,824 58,124,687 RGD:8554872
RGD:7240710
G Sit1 signaling threshold regulating transmembrane adaptor 1 JBrowse link 5 58,985,912 58,987,538 RGD:8554872
G Spag8 sperm associated antigen 8 JBrowse link 5 59,147,412 59,149,625 RGD:8554872
G Stoml2 stomatin like 2 JBrowse link 5 58,472,561 58,476,158 RGD:8554872
G Tesk1 testis associated actin remodelling kinase 1 JBrowse link 5 58,937,615 58,943,358 RGD:8554872
G Tln1 talin 1 JBrowse link 5 59,033,635 59,063,592 RGD:8554872
G Tmem8b transmembrane protein 8B JBrowse link 5 59,165,552 59,193,772 RGD:8554872
G Tpm2 tropomyosin 2 JBrowse link 5 59,016,616 59,025,971 RGD:8554872
G Unc13b unc-13 homolog B JBrowse link 5 58,505,449 58,714,396 RGD:8554872
G Vcp valosin-containing protein JBrowse link 5 58,426,548 58,445,953 RGD:8554872
distal spinal muscular atrophy type 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Plekhg5 pleckstrin homology and RhoGEF domain containing G5 JBrowse link 5 169,244,778 169,288,310 RGD:7240710
RGD:8554872
distal spinal muscular atrophy type 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Des desmin JBrowse link 9 82,556,574 82,564,288 RGD:8554872
G Dnajb2 DnaJ heat shock protein family (Hsp40) member B2 JBrowse link 9 82,436,453 82,444,669 RGD:7240710
RGD:8554872
G Dnpep aspartyl aminopeptidase JBrowse link 9 82,505,529 82,514,399 RGD:8554872
G Ptprn protein tyrosine phosphatase, receptor type, N JBrowse link 9 82,446,626 82,462,314 RGD:8554872
G Resp18 regulated endocrine-specific protein 18 JBrowse link 9 82,470,794 82,477,136 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      nervous system disease 10216
        neurodegenerative disease 2691
          motor neuron disease 344
            spinal muscular atrophy 111
              autosomal recessive distal hereditary motor neuronopathy 56
                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 1
                distal spinal muscular atrophy type 5 5
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      nervous system disease 10216
        peripheral nervous system disease 2125
          neuropathy 1948
            neuromuscular disease 1520
              motor neuron disease 344
                spinal muscular atrophy 111
                  autosomal recessive distal hereditary motor neuronopathy 56
                    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 1
                    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.