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ONTOLOGY REPORT - ANNOTATIONS


Term:distal spinal muscular atrophy 2
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Accession:DOID:0111065 term browser browse the term
Definition:A spinal muscular atrophy characterized by autosomal recessive inheritance of distal muscle weakness and muscle wasting primarily affecting the upper and lower limbswith onset typically in the first decade of life that has_material_basis_in homozygous mutation in the SIGMAR1 gene on chromosome 9p13. (DO)
Synonyms:exact_synonym: DSMA2;   HMNJ;   autosomal recessive distal spinal muscular atrophy 2;   dHMNJ;   distal hereditary motor neuronopathy, Jerash type;   distal hereditary motor neuropathy, Jerash type;   distal motor neuropathy, Jerash type;   hereditary motor neuropathy, Jerash type;   spinal muscular atrophy, Jerash type
 primary_id: MESH:C535715
 alt_id: OMIM:605726;   RDO:0000984
 xref: GARD:10133;   ORDO:139552
For additional species annotation, visit the Alliance of Genome Resources.


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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 9 35,658,875 35,665,205 RGD:8554872
G ARID3C AT-rich interaction domain 3C JBrowse link 9 34,621,049 34,633,112 RGD:8554872
G C9orf131 chromosome 9 open reading frame 131 JBrowse link 9 35,041,095 35,045,991 RGD:8554872
G CA9 carbonic anhydrase 9 JBrowse link 9 35,673,809 35,681,159 RGD:8554872
G CCDC107 coiled-coil domain containing 107 JBrowse link 9 35,658,290 35,661,511 RGD:8554872
G CCIN calicin JBrowse link 9 36,169,388 36,171,334 RGD:8554872
G CCL19 C-C motif chemokine ligand 19 JBrowse link 9 34,689,570 34,691,276 RGD:8554872
G CCL21 C-C motif chemokine ligand 21 JBrowse link 9 34,709,005 34,710,136 RGD:8554872
G CCL27 C-C motif chemokine ligand 27 JBrowse link 9 34,661,890 34,662,657 RGD:8554872
G CD72 CD72 molecule JBrowse link 9 35,609,981 35,618,427 RGD:8554872
G CLTA clathrin light chain A JBrowse link 9 36,190,855 36,212,062 RGD:8554872
G CNTFR ciliary neurotrophic factor receptor JBrowse link 9 34,551,432 34,590,386 RGD:8554872
G CREB3 cAMP responsive element binding protein 3 JBrowse link 9 35,732,666 35,736,999 RGD:8554872
G DCTN3 dynactin subunit 3 JBrowse link 9 34,613,545 34,620,523 RGD:8554872
G DNAI1 dynein axonemal intermediate chain 1 JBrowse link 9 34,458,752 34,520,989 RGD:8554872
G DNAJB5 DnaJ heat shock protein family (Hsp40) member B5 JBrowse link 9 34,989,369 34,998,900 RGD:8554872
G ENHO energy homeostasis associated JBrowse link 9 34,521,043 34,522,990 RGD:8554872
G FAM166B family with sequence similarity 166 member B JBrowse link 9 35,561,830 35,563,878 RGD:8554872
G FAM205A family with sequence similarity 205 member A JBrowse link 9 34,723,053 34,729,488 RGD:8554872
G FAM214B family with sequence similarity 214 member B JBrowse link 9 35,104,117 35,116,341 RGD:8554872
G FAM221B family with sequence similarity 221 member B JBrowse link 9 35,816,391 35,829,148 RGD:8554872
G FANCG FA complementation group G JBrowse link 9 35,073,839 35,079,942 RGD:8554872
G GALT galactose-1-phosphate uridylyltransferase JBrowse link 9 34,646,589 34,651,035 RGD:8554872
G GBA2 glucosylceramidase beta 2 JBrowse link 9 35,736,862 35,749,228 RGD:8554872
G GLIPR2 GLI pathogenesis related 2 JBrowse link 9 36,136,536 36,163,913 RGD:8554872
G GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase JBrowse link 9 36,214,441 36,277,057 RGD:8554872
G HINT2 histidine triad nucleotide binding protein 2 JBrowse link 9 35,812,960 35,815,479 RGD:8554872
G HRCT1 histidine rich carboxyl terminus 1 JBrowse link 9 35,906,202 35,907,136 RGD:8554872
G IL11RA interleukin 11 receptor subunit alpha JBrowse link 9 34,652,185 34,661,902 RGD:8554872
G MSMP microseminoprotein, prostate associated JBrowse link 9 35,752,990 35,754,276 RGD:8554872
G NPR2 natriuretic peptide receptor 2 JBrowse link 9 35,782,086 35,809,731 RGD:8554872
G OR13J1 olfactory receptor family 13 subfamily J member 1 JBrowse link 9 35,869,463 35,870,401 RGD:8554872
G OR2S2 olfactory receptor family 2 subfamily S member 2 (gene/pseudogene) JBrowse link 9 35,957,108 35,958,154 RGD:8554872
G PHF24 PHD finger protein 24 JBrowse link 9 34,810,040 34,982,544 RGD:8554872
G PIGO phosphatidylinositol glycan anchor biosynthesis class O JBrowse link 9 35,085,496 35,096,601 RGD:8554872
G RECK reversion inducing cysteine rich protein with kazal motifs JBrowse link 9 36,036,905 36,124,455 RGD:8554872
G RGP1 RGP1 homolog, RAB6A GEF complex partner 1 JBrowse link 9 35,749,287 35,758,585 RGD:8554872
G RMRP RNA component of mitochondrial RNA processing endoribonuclease JBrowse link 9 35,657,751 35,658,018 RGD:8554872
G RPP25L ribonuclease P/MRP subunit p25 like JBrowse link 9 34,610,495 34,612,097 RGD:8554872
G RUSC2 RUN and SH3 domain containing 2 JBrowse link 9 35,490,111 35,561,898 RGD:8554872
G SIGMAR1 sigma non-opioid intracellular receptor 1 JBrowse link 9 34,634,722 34,637,826 RGD:8554872
RGD:7240710
G SIT1 signaling threshold regulating transmembrane adaptor 1 JBrowse link 9 35,649,295 35,650,931 RGD:8554872
G SPAG8 sperm associated antigen 8 JBrowse link 9 35,807,785 35,812,272 RGD:8554872
G STOML2 stomatin like 2 JBrowse link 9 35,099,776 35,103,195 RGD:8554872
G TESK1 testis associated actin remodelling kinase 1 JBrowse link 9 35,605,262 35,610,033 RGD:8554872
G TLN1 talin 1 JBrowse link 9 35,696,948 35,732,195 RGD:8554872
G TMEM8B transmembrane protein 8B JBrowse link 9 35,825,817 35,865,515 RGD:8554872
G TPM2 tropomyosin 2 JBrowse link 9 35,681,993 35,690,056 RGD:8554872
G UNC13B unc-13 homolog B JBrowse link 9 35,162,009 35,405,338 RGD:8554872
G VCP valosin containing protein JBrowse link 9 35,056,064 35,072,668 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16489
    disease of anatomical entity 15414
      nervous system disease 11652
        neurodegenerative disease 3181
          motor neuron disease 360
            spinal muscular atrophy 129
              autosomal recessive distal hereditary motor neuronopathy 58
                distal spinal muscular atrophy 2 50
Path 2
Term Annotations click to browse term
  disease 16489
    disease of anatomical entity 15414
      nervous system disease 11652
        peripheral nervous system disease 2258
          neuropathy 2089
            neuromuscular disease 1652
              motor neuron disease 360
                spinal muscular atrophy 129
                  autosomal recessive distal hereditary motor neuronopathy 58
                    distal spinal muscular atrophy 2 50
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.