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ONTOLOGY REPORT - ANNOTATIONS
Term:spinal muscular atrophy
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Accession:DOID:12377 term browser browse the term
Definition:A group of disorders marked by progressive degeneration of motor neurons in the spinal cord resulting in weakness and muscular atrophy, usually without evidence of injury to the corticospinal tracts. Diseases in this category include Werdnig-Hoffmann disease and later onset SPINAL MUSCULAR ATROPHIES OF CHILDHOOD, most of which are hereditary. (Adams et al., Principles of Neurology, 6th ed, p1089)
Synonyms:exact_synonym: Hereditary Motor Neuronopathy;   adult onset spinal muscular atrophy;   bulbospinal neuronopathies;   bulbospinal neuronopathy;   distal spinal muscular atrophy;   hereditary motor neuronopathies;   myelopathic muscular atrophy;   oculopharyngeal spinal muscular atrophy;   progressive myelopathic muscular atrophy;   progressive proximal myelopathic muscular atrophy;   progressive spinal muscular atrophy;   spinal amyotrophies;   spinal amyotrophy
 narrow_synonym: proximal spinal muscular atrophy;   spinal muscular atrophy, dominant
 primary_id: MESH:D009134
 xref: GARD:7674;   ICD10CM:G12.9;   ICD9CM:335.1;   NCI:C85075
For additional species annotation, visit the Alliance of Genome Resources.

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spinal muscular atrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aars alanyl-tRNA synthetase JBrowse link 19 43,193,264 43,215,281 RGD:8554872
G Ankrd1 ankyrin repeat domain 1 JBrowse link 1 254,726,985 254,745,673 RGD:1578366
G Ar androgen receptor JBrowse link X 67,656,253 67,828,998 RGD:1578680
G Bicd2 BICD cargo adaptor 2 JBrowse link 17 15,673,649 15,718,035 RGD:8554872
G Capn3 calpain 3 JBrowse link 3 112,227,486 112,278,408 RGD:8554872
G Dpp6 dipeptidyl peptidase like 6 JBrowse link 4 4,021,021 4,943,675 RGD:5687182
G Dst dystonin JBrowse link 9 37,902,336 38,296,961 RGD:8554872
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 JBrowse link 6 134,958,854 135,085,769 RGD:8554872
G Etfdh electron transfer flavoprotein dehydrogenase JBrowse link 2 178,367,547 178,389,641 RGD:8554872
G Fbln5 fibulin 5 JBrowse link 6 125,644,797 125,723,957 RGD:8554872
G Fbxo38 F-box protein 38 JBrowse link 18 57,827,391 57,874,515 RGD:8554872
G Fus FUS RNA binding protein JBrowse link 1 199,412,805 199,426,705 RGD:8554872
G Gars glycyl-tRNA synthetase JBrowse link 4 85,235,122 85,276,085 RGD:8554872
G Hdac4 histone deacetylase 4 JBrowse link 9 99,052,945 99,299,715 RGD:9681458
G Hexb hexosaminidase subunit beta JBrowse link 2 27,983,925 28,003,260 RGD:1599424
G Ighmbp2 immunoglobulin mu DNA binding protein 2 JBrowse link 1 218,509,274 218,531,922 RGD:8554872
G Litaf lipopolysaccharide-induced TNF factor JBrowse link 10 4,753,546 4,763,272 RGD:8554872
G Mars1 methionyl-tRNA synthetase 1 JBrowse link 7 70,585,011 70,602,425 RGD:8554872
G Morc2 MORC family CW-type zinc finger 2 JBrowse link 14 83,889,138 83,930,263 RGD:8554872
G Nefl neurofilament light JBrowse link 15 44,799,378 44,803,251 RGD:8554872
G Pecam1 platelet and endothelial cell adhesion molecule 1 JBrowse link 10 94,850,971 94,913,202 RGD:6767297
G Plekhg5 pleckstrin homology and RhoGEF domain containing G5 JBrowse link 5 169,244,778 169,288,310 RGD:8554872
G Pmp22 peripheral myelin protein 22 JBrowse link 10 49,538,588 49,568,583 RGD:8554872
G Prx periaxin JBrowse link 1 84,302,074 84,324,560 RGD:8554872
G Setx senataxin JBrowse link 3 7,680,430 7,731,815 RGD:8554872
G Sh3tc2 SH3 domain and tetratricopeptide repeats 2 JBrowse link 18 57,286,266 57,403,926 RGD:8554872
G Slc5a7 solute carrier family 5 member 7 JBrowse link 9 5,294,377 5,330,822 RGD:8554872
G Smn1 survival of motor neuron 1, telomeric JBrowse link 2 30,360,101 30,371,147 RGD:9831153
RGD:8554872
RGD:11554173
G Tdrkh tudor and KH domain containing JBrowse link 2 195,649,813 195,674,217 RGD:8554872
G Tll2 tolloid-like 2 JBrowse link 1 260,348,905 260,460,791 RGD:8554872
G Tnfrsf25 TNF receptor superfamily member 25 JBrowse link 5 169,288,419 169,293,137 RGD:8554872
G Trpv4 transient receptor potential cation channel, subfamily V, member 4 JBrowse link 12 47,698,915 47,737,902 RGD:11554173
RGD:8554872
G Vapb VAMP associated protein B and C JBrowse link 3 171,832,558 171,871,042 RGD:5688230
RGD:8554872
G Vrk1 VRK serine/threonine kinase 1 JBrowse link 6 129,835,788 129,902,839 RGD:8554872
adult spinal muscular atrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Smn1 survival of motor neuron 1, telomeric JBrowse link 2 30,360,101 30,371,147 RGD:7240710
RGD:8554872
autosomal dominant adult-onset proximal spinal muscular atrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kif1b kinesin family member 1B JBrowse link 5 165,994,803 166,133,497 RGD:8554872
G Vapb VAMP associated protein B and C JBrowse link 3 171,832,558 171,871,042 RGD:7240710
RGD:8554872
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 Fig4 FIG4 phosphoinositide 5-phosphatase JBrowse link 20 45,922,806 46,044,754 RGD:8554872
G Gars glycyl-tRNA synthetase JBrowse link 4 85,235,122 85,276,085 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 Morc2 MORC family CW-type zinc finger 2 JBrowse link 14 83,889,138 83,930,263 RGD:8554872
G Nefl neurofilament light JBrowse link 15 44,799,378 44,803,251 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
Camptocormia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myh7 myosin heavy chain 7 JBrowse link 15 33,605,769 33,657,761 RGD:8554872
G Polg DNA polymerase gamma, catalytic subunit JBrowse link 1 141,172,117 141,188,893 RGD:8554872
G Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B JBrowse link 7 76,750,045 76,780,817 RGD:8554872
childhood spinal muscular atrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 JBrowse link 6 134,958,854 135,085,769 RGD:11554173
G Smn1 survival of motor neuron 1, telomeric JBrowse link 2 30,360,101 30,371,147 RGD:11554173
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
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 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 Dync1h1 dynein cytoplasmic 1 heavy chain 1 JBrowse link 6 134,958,854 135,085,769 RGD:8554872
G Gars glycyl-tRNA synthetase JBrowse link 4 85,235,122 85,276,085 RGD:8554872
G Mfn2 mitofusin 2 JBrowse link 5 164,684,244 164,715,414 RGD:8554872
G Mpz myelin protein zero JBrowse link 13 89,524,204 89,530,070 RGD:8554872
G Nefl neurofilament light JBrowse link 15 44,799,378 44,803,251 RGD:8554872
G Plekhg5 pleckstrin homology and RhoGEF domain containing G5 JBrowse link 5 169,244,778 169,288,310 RGD:8554872
G Scn11a sodium voltage-gated channel alpha subunit 11 JBrowse link 8 128,450,793 128,527,510 RGD:8554872
G Setx senataxin JBrowse link 3 7,680,430 7,731,815 RGD:8554872
G Sh3tc2 SH3 domain and tetratricopeptide repeats 2 JBrowse link 18 57,286,266 57,403,926 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 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
RGD:11554173
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
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
G Tnfrsf25 TNF receptor superfamily member 25 JBrowse link 5 169,288,419 169,293,137 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
intermediate spinal muscular atrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Smn1 survival of motor neuron 1, telomeric JBrowse link 2 30,360,101 30,371,147 RGD:7240710
RGD:8554872
juvenile spinal muscular atrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Smn1 survival of motor neuron 1, telomeric JBrowse link 2 30,360,101 30,371,147 RGD:8554872
RGD:7240710
Kennedy's disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ar androgen receptor JBrowse link X 67,656,253 67,828,998 RGD:734599
RGD:11576241
RGD:11576229
RGD:7240710
G Gdnf glial cell derived neurotrophic factor JBrowse link 2 56,884,181 56,912,964 RGD:6218978
neurogenic scapuloperoneal syndrome Kaeser type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Des desmin JBrowse link 9 82,556,574 82,564,288 RGD:7240710
RGD:8554872
Progressive Encephalopathy with Amyotrophy and Optic Atrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tbce tubulin folding cofactor E JBrowse link 17 53,983,126 54,029,028 RGD:8554872
RGD:7240710
scapuloperoneal spinal muscular atrophy 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
RGD:11554173
Spinal Muscular Atrophy with Congenital Bone Fractures 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Trip4 thyroid hormone receptor interactor 4 JBrowse link 8 71,369,121 71,533,281 RGD:8554872
RGD:7240710
Spinal Muscular Atrophy with Congenital Bone Fractures 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ascc1 activating signal cointegrator 1 complex subunit 1 JBrowse link 20 29,558,330 29,648,899 RGD:7240710
RGD:8554872
spinal muscular atrophy with lower extremity predominance 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 JBrowse link 6 134,958,854 135,085,769 RGD:7240710
RGD:8554872
spinal muscular atrophy with lower extremity predominance 2A 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:7240710
RGD:8554872
spinal muscular atrophy with lower extremity predominante 2B 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
RGD:7240710
G Mt-nd6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 JBrowse link MT 13,543 14,061 RGD:8657128
spinal muscular atrophy with progressive myoclonic epilepsy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Asah1 N-acylsphingosine amidohydrolase 1 JBrowse link 16 53,998,604 54,030,006 RGD:7240710
RGD:8554872
Spinal Muscular Atrophy, Facioscapulohumeral Type 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:8554872
Spinal Muscular Atrophy, Jokela Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chchd10 coiled-coil-helix-coiled-coil-helix domain containing 10 JBrowse link 20 13,665,046 13,666,845 RGD:8554872
RGD:7240710
G RGD1564162 similar to Homo sapiens fetal lung specific expression unknown JBrowse link 20 13,661,603 13,665,073 RGD:8554872
Werdnig-Hoffmann disease 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:8554872
G Smn1 survival of motor neuron 1, telomeric JBrowse link 2 30,360,101 30,371,147 RGD:8554872
RGD:7240710
G Vps54 VPS54 subunit of GARP complex JBrowse link 14 106,153,407 106,207,715 RGD:13592920
X-linked distal spinal muscular atrophy 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atp7a ATPase copper transporting alpha JBrowse link X 77,076,085 77,193,644 RGD:7240710
RGD:8554872
RGD:11340198
RGD:11252181
X-linked spinal muscular atrophy 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Uba1 ubiquitin-like modifier activating enzyme 1 JBrowse link X 1,723,135 1,745,147 RGD:7240710
RGD:8554872
G Zc4h2 zinc finger C4H2-type containing JBrowse link X 64,887,978 64,908,682 RGD:11554173
Term paths to the root
Path 1
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  disease 16022
    disease of anatomical entity 15275
      musculoskeletal system disease 5539
        neuromuscular disease 1718
          motor neuron disease 366
            spinal muscular atrophy 125
              Camptocormia 3
              Distal Hereditary Motor Neuropathy, Type II 0
              Kennedy's disease 2
              Progressive Encephalopathy with Amyotrophy and Optic Atrophy 1
              Spinal Muscular Atrophy with Mental Retardation 0
              Spinal Muscular Atrophy, Facioscapulohumeral Type 1
              Spinal Muscular Atrophy, Jokela Type 2
              Spinal Muscular Atrophy, Ryukyuan Type 0
              Spinal Muscular Atrophy, Segmental 0
              X-linked distal spinal muscular atrophy 3 1
              X-linked spinal muscular atrophy 2 2
              adult spinal muscular atrophy 1
              anterior horn cell disease 0
              autosomal dominant adult-onset proximal spinal muscular atrophy 2
              autosomal dominant distal hereditary motor neuronopathy + 33
              autosomal recessive distal hereditary motor neuronopathy + 57
              childhood spinal muscular atrophy + 7
              neurogenic scapuloperoneal syndrome Kaeser type 1
              scapuloperoneal spinal muscular atrophy 1
              spinal muscular atrophy with lower extremity predominance + 3
Path 2
Term Annotations click to browse term
  disease 16022
    disease of anatomical entity 15275
      nervous system disease 10770
        peripheral nervous system disease 2367
          neuropathy 2183
            neuromuscular disease 1718
              motor neuron disease 366
                spinal muscular atrophy 125
                  Camptocormia 3
                  Distal Hereditary Motor Neuropathy, Type II 0
                  Kennedy's disease 2
                  Progressive Encephalopathy with Amyotrophy and Optic Atrophy 1
                  Spinal Muscular Atrophy with Mental Retardation 0
                  Spinal Muscular Atrophy, Facioscapulohumeral Type 1
                  Spinal Muscular Atrophy, Jokela Type 2
                  Spinal Muscular Atrophy, Ryukyuan Type 0
                  Spinal Muscular Atrophy, Segmental 0
                  X-linked distal spinal muscular atrophy 3 1
                  X-linked spinal muscular atrophy 2 2
                  adult spinal muscular atrophy 1
                  anterior horn cell disease 0
                  autosomal dominant adult-onset proximal spinal muscular atrophy 2
                  autosomal dominant distal hereditary motor neuronopathy + 33
                  autosomal recessive distal hereditary motor neuronopathy + 57
                  childhood spinal muscular atrophy + 7
                  neurogenic scapuloperoneal syndrome Kaeser type 1
                  scapuloperoneal spinal muscular atrophy 1
                  spinal muscular atrophy with lower extremity predominance + 3
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.