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ONTOLOGY REPORT - ANNOTATIONS


Term:autosomal dominant distal hereditary motor neuronopathy
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Accession:DOID:0111198 term browser browse the term
Definition:A spinal muscular atrophy that has_material_basis_in autosomal dominant inheritance. (DO)
Synonyms:exact_synonym: autosomal dominant dHMN;   autosomal dominant distal hereditary motor neuropathy;   autosomal dominant distal spinal muscular atrophy
 xref: ORDO:140465
For additional species annotation, visit the Alliance of Genome Resources.


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autosomal dominant distal hereditary motor neuronopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bicd2 BICD cargo adaptor 2 JBrowse link 17 15,673,649 15,718,035 RGD:8554872
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 JBrowse link 6 134,958,854 135,085,769 RGD:8554872
G Ighmbp2 immunoglobulin mu DNA binding protein 2 JBrowse link 1 218,509,274 218,531,922 RGD:8554872
G Lmna lamin A/C JBrowse link 2 187,842,884 187,863,552 RGD:8554872
G Setx senataxin JBrowse link 3 7,680,430 7,731,815 RGD:8554872
G Trpv4 transient receptor potential cation channel, subfamily V, member 4 JBrowse link 12 47,698,915 47,737,902 RGD:8554872
distal hereditary motor neuronopathy type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dctn1 dynactin subunit 1 JBrowse link 4 114,876,770 114,896,567 RGD:8554872
G Hspb1 heat shock protein family B (small) member 1 JBrowse link 12 23,839,390 23,841,051 RGD:8554872
G Hspb3 heat shock protein family B (small) member 3 JBrowse link 2 45,517,788 45,518,502 RGD:8554872
G Hspb8 heat shock protein family B (small) member 8 JBrowse link 12 45,905,371 45,920,014 RGD:8554872
G Ighmbp2 immunoglobulin mu DNA binding protein 2 JBrowse link 1 218,509,274 218,531,922 RGD:8554872
distal hereditary motor neuronopathy type 2A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hspb8 heat shock protein family B (small) member 8 JBrowse link 12 45,905,371 45,920,014 RGD:7240710
RGD:8554872
distal hereditary motor neuronopathy type 2C term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hspb3 heat shock protein family B (small) member 3 JBrowse link 2 45,517,788 45,518,502 RGD:7240710
RGD:8554872
distal hereditary motor neuronopathy type 2D term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fbxo38 F-box protein 38 JBrowse link 18 57,827,391 57,874,515 RGD:7240710
RGD:8554872
distal hereditary motor neuronopathy type 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bscl2 BSCL2 lipid droplet biogenesis associated, seipin JBrowse link 1 225,035,956 225,046,137 RGD:11554173
RGD:8554872
G Gars glycyl-tRNA synthetase JBrowse link 4 85,235,122 85,276,085 RGD:11554173
RGD:8554872
G Pnpo pyridoxamine 5'-phosphate oxidase JBrowse link 10 84,874,926 84,881,190 RGD:8554872
G Reep1 receptor accessory protein 1 JBrowse link 4 99,618,622 99,735,329 RGD:11554173
distal hereditary motor neuronopathy type 5A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bscl2 BSCL2 lipid droplet biogenesis associated, seipin JBrowse link 1 225,035,956 225,046,137 RGD:7240710
G Gars glycyl-tRNA synthetase JBrowse link 4 85,235,122 85,276,085 RGD:7240710
distal hereditary motor neuronopathy type 5B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Reep1 receptor accessory protein 1 JBrowse link 4 99,618,622 99,735,329 RGD:7240710
RGD:8554872
distal hereditary motor neuronopathy type 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc5a7 solute carrier family 5 member 7 JBrowse link 9 5,294,377 5,330,822 RGD:8554872
distal hereditary motor neuronopathy type 7A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccdc138 coiled-coil domain containing 138 JBrowse link 20 28,076,784 28,158,053 RGD:8554872
G Edar ectodysplasin-A receptor JBrowse link 20 28,179,132 28,263,092 RGD:8554872
G Gcc2 GRIP and coiled-coil domain containing 2 JBrowse link 20 27,832,960 27,879,764 RGD:8554872
G Lims1 LIM zinc finger domain containing 1 JBrowse link 20 27,895,981 28,004,767 RGD:8554872
G LOC100910235 sulfotransferase 1C1-like JBrowse link 9 4,323,997 4,328,175 RGD:8554872
G Ranbp2 RAN binding protein 2 JBrowse link 20
20
28,027,054
28,365,538
28,076,664
28,375,676
RGD:8554872
G Slc5a7 solute carrier family 5 member 7 JBrowse link 9 5,294,377 5,330,822 RGD:7240710
RGD:8554872
G Sult1c2a sulfotransferase family, cytosolic, 1C, member 2a JBrowse link 9 4,152,588 4,168,355 RGD:8554872
G Sult1c3 sulfotransferase family 1C member 3 JBrowse link 9 4,931,038 4,978,847 RGD:8554872
distal hereditary motor neuronopathy type 7B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dctn1 dynactin subunit 1 JBrowse link 4 114,876,770 114,896,567 RGD:7240710
RGD:8554872
G Plekhg5 pleckstrin homology and RhoGEF domain containing G5 JBrowse link 5 169,244,778 169,288,310 RGD:8554872
distal hereditary motor neuronopathy type 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Trpv4 transient receptor potential cation channel, subfamily V, member 4 JBrowse link 12 47,698,915 47,737,902 RGD:7240710
RGD:8554872
distal hereditary motor neuronopathy type 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Wars1 tryptophanyl-tRNA synthetase 1 JBrowse link 6 132,771,026 132,802,262 RGD:8554872
RGD:7240710
distal hereditary motor neuropathy type 2B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hspb1 heat shock protein family B (small) member 1 JBrowse link 12 23,839,390 23,841,051 RGD:7240710
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 dominant distal hereditary motor neuronopathy 26
                distal hereditary motor neuronopathy type 1 5
                distal hereditary motor neuronopathy type 2 + 4
                distal hereditary motor neuronopathy type 5 + 4
                distal hereditary motor neuronopathy type 7 + 11
                distal hereditary motor neuronopathy type 8 1
                distal hereditary motor neuronopathy type 9 1
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 dominant distal hereditary motor neuronopathy 26
                    distal hereditary motor neuronopathy type 1 5
                    distal hereditary motor neuronopathy type 2 + 4
                    distal hereditary motor neuronopathy type 5 + 4
                    distal hereditary motor neuronopathy type 7 + 11
                    distal hereditary motor neuronopathy type 8 1
                    distal hereditary motor neuronopathy type 9 1
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.