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ONTOLOGY REPORT - ANNOTATIONS


Term:motor neuron disease
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Accession:DOID:231 term browser browse the term
Definition:Diseases characterized by a selective degeneration of the motor neurons of the spinal cord, brainstem, or motor cortex. Clinical subtypes are distinguished by the major site of degeneration. In AMYOTROPHIC LATERAL SCLEROSIS there is involvement of upper, lower, and brainstem motor neurons. In progressive muscular atrophy and related syndromes (see MUSCULAR ATROPHY, SPINAL) the motor neurons in the spinal cord are primarily affected. With progressive bulbar palsy (BULBAR PALSY, PROGRESSIVE), the initial degeneration occurs in the brainstem. In primary lateral sclerosis, the cortical neurons are affected in isolation. (Adams et al., Principles of Neurology, 6th ed, p1089)
Synonyms:exact_synonym: Lower Motor Neuron Disease;   Motor Neuron Diseases;   Motor System Disease;   Motor System Diseases;   Secondary Motor Neuron Disease;   familial motor neuron disease;   upper motor neuron disease
 primary_id: MESH:D016472
 alt_id: RDO:0002003
For additional species annotation, visit the Alliance of Genome Resources.


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motor neuron disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aif1 allograft inflammatory factor 1 JBrowse link 20 5,161,350 5,167,176 RGD:2313029
G Gars glycyl-tRNA synthetase JBrowse link 4 85,235,122 85,276,085 RGD:8554872
G Gstt1 glutathione S-transferase theta 1 JBrowse link 20 13,799,102 13,816,527 RGD:5490213
G Htra2 HtrA serine peptidase 2 JBrowse link 4 113,883,671 113,886,833 RGD:10402865
G Mt3 metallothionein 3 JBrowse link 19 11,324,708 11,326,112 RGD:6480623
G Nek1 NIMA-related kinase 1 JBrowse link 16 32,321,010 32,439,421 RGD:8554872
G Nos1 nitric oxide synthase 1 JBrowse link 12 44,214,949 44,405,530 RGD:5132629
G Optn optineurin JBrowse link 17 77,167,700 77,218,374 RGD:8554872
G Pnpla6 patatin-like phospholipase domain containing 6 JBrowse link 12 2,068,749 2,098,139 RGD:11554173
G Prdx3 peroxiredoxin 3 JBrowse link 1 282,238,774 282,251,193 RGD:11554173
G Rhot1 ras homolog family member T1 JBrowse link 10 67,559,277 67,640,622 RGD:13592920
G Sod1 superoxide dismutase 1 JBrowse link 11 30,363,282 30,368,858 RGD:11554173
RGD:8554872
G Tardbp TAR DNA binding protein JBrowse link 5 165,432,089 165,442,232 RGD:5687193
RGD:8554872
G Tbk1 TANK-binding kinase 1 JBrowse link 7 63,655,247 63,687,978 RGD:8554872
G Vim vimentin JBrowse link 17 80,882,715 80,891,200 RGD:11554173
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
amyotrophic lateral sclerosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adarb1 adenosine deaminase, RNA-specific, B1 JBrowse link 20 11,972,352 12,101,022 RGD:10755336
RGD:13592920
RGD:13432092
G Akt1 AKT serine/threonine kinase 1 JBrowse link 6 137,218,398 137,239,970 RGD:5509081
G Als2 alsin Rho guanine nucleotide exchange factor ALS2 JBrowse link 9 65,961,361 66,034,396 RGD:1599080
G Ang angiogenin JBrowse link 15 28,022,926 28,028,636 RGD:6892707
RGD:6892713
RGD:6892716
RGD:6892718
G Aox1 aldehyde oxidase 1 JBrowse link 9 64,929,682 65,007,872 RGD:734575
G Apoe apolipoprotein E JBrowse link 1 80,612,894 80,616,820 RGD:12880359
G Aqp4 aquaporin 4 JBrowse link 18 6,766,009 6,782,757 RGD:5490153
RGD:8662893
G Atg5 autophagy related 5 JBrowse link 20 49,301,783 49,393,147 RGD:11561951
G Atox1 antioxidant 1 copper chaperone JBrowse link 10 40,790,850 40,805,886 RGD:13524567
G Atxn2 ataxin 2 JBrowse link 12 40,264,601 40,335,637 RGD:11554173
G Bad BCL2-associated agonist of cell death JBrowse link 1 222,198,516 222,207,459 RGD:13506907
G Bak1 BCL2-antagonist/killer 1 JBrowse link 20 5,609,620 5,618,899 RGD:13506803
G Bax BCL2 associated X, apoptosis regulator JBrowse link 1 101,451,801 101,457,207 RGD:13506797
RGD:13506907
RGD:13506805
RGD:13506803
RGD:13506800
G Bcl2 BCL2, apoptosis regulator JBrowse link 13 26,605,426 26,769,374 RGD:13506907
G Bcl2l1 Bcl2-like 1 JBrowse link 3 148,259,594 148,314,191 RGD:13506902
RGD:13506907
G Becn1 beclin 1 JBrowse link 10 89,209,944 89,225,297 RGD:11561951
G Bid BH3 interacting domain death agonist JBrowse link 4 153,439,812 153,465,247 RGD:13506949
G Bnip3l BCL2 interacting protein 3 like JBrowse link 15 43,643,897 43,667,123 RGD:13506949
G Bptf bromodomain PHD finger transcription factor JBrowse link 10 95,248,573 95,350,162 RGD:9586057
G C3 complement C3 JBrowse link 9 9,721,137 9,747,084 RGD:5130169
G C5ar1 complement C5a receptor 1 JBrowse link 1 78,186,777 78,195,132 RGD:5130169
G Cacna1a calcium voltage-gated channel subunit alpha1 A JBrowse link 19 25,453,236 25,749,550 RGD:8554872
G Calca calcitonin-related polypeptide alpha JBrowse link 1 184,184,018 184,188,922 RGD:5684010
G Camk1g calcium/calmodulin-dependent protein kinase IG JBrowse link 13 112,075,689 112,099,472 RGD:11554173
G Casp12 caspase 12 JBrowse link 8 2,658,892 2,686,160 RGD:2311466
G Casp3 caspase 3 JBrowse link 16 48,845,011 48,863,249 RGD:2311466
G Casp9 caspase 9 JBrowse link 5 160,356,211 160,373,774 RGD:2311466
G Ccr2 C-C motif chemokine receptor 2 RGD:8657363
G Ccs copper chaperone for superoxide dismutase JBrowse link 1 220,075,251 220,096,319 RGD:13524551
G Cd40lg CD40 ligand JBrowse link X 159,703,703 159,714,886 RGD:5490547
RGD:11554173
G Cdk5 cyclin-dependent kinase 5 JBrowse link 4 7,282,945 7,287,427 RGD:734741
G Cfap410 cilia and flagella associated protein 410 JBrowse link 20 11,417,428 11,424,301 RGD:11554173
G Chmp2b charged multivesicular body protein 2B JBrowse link 11 2,666,405 2,692,213 RGD:5688711
RGD:11554173
G Cntf ciliary neurotrophic factor JBrowse link 1 229,599,009 229,601,032 RGD:734796
G Ctsh cathepsin H JBrowse link 8 97,439,155 97,458,293 RGD:5686391
G Dbr1 debranching RNA lariats 1 JBrowse link 8 107,826,690 107,838,186 RGD:11554173
G Dctn1 dynactin subunit 1 JBrowse link 4 114,876,770 114,896,567 RGD:8554872
G Dnmt3a DNA methyltransferase 3 alpha JBrowse link 6 28,205,375 28,346,052 RGD:9589066
G Dpp6 dipeptidyl peptidase like 6 JBrowse link 4 4,021,021 4,943,675 RGD:5687188
RGD:11554173
RGD:5687181
G Eif2ak2 eukaryotic translation initiation factor 2-alpha kinase 2 JBrowse link 6 1,428,845 1,466,193 RGD:2301741
G Epg5 ectopic P-granules autophagy protein 5 homolog JBrowse link 18 74,299,965 74,397,115 RGD:13592920
G Epo erythropoietin JBrowse link 12 22,274,828 22,278,268 RGD:10395391
G Fus FUS RNA binding protein JBrowse link 1 199,412,805 199,426,705 RGD:5509900
RGD:11554173
RGD:9685710
G Gdnf glial cell derived neurotrophic factor JBrowse link 2 56,884,181 56,912,964 RGD:6218978
G Gfap glial fibrillary acidic protein JBrowse link 10 90,990,762 90,999,435 RGD:11554173
G Gjc2 gap junction protein, gamma 2 JBrowse link 10 45,526,740 45,535,520 RGD:13208591
G Got1 glutamic-oxaloacetic transaminase 1 JBrowse link 1 263,246,248 263,269,762 RGD:13506239
G Grn granulin precursor JBrowse link 10 90,377,103 90,383,207 RGD:5509593
RGD:5509619
G Gsk3a glycogen synthase kinase 3 alpha JBrowse link 1 82,097,244 82,108,238 RGD:2301741
G Gsk3b glycogen synthase kinase 3 beta JBrowse link 11 65,060,884 65,208,842 RGD:2301741
G Gsr glutathione-disulfide reductase JBrowse link 16 62,197,617 62,239,987 RGD:11554173
G Gstp1 glutathione S-transferase pi 1 JBrowse link 1 219,291,679 219,294,147 RGD:11554173
G Hdac4 histone deacetylase 4 JBrowse link 9 99,052,945 99,299,715 RGD:9681450
G Hes1 hes family bHLH transcription factor 1 JBrowse link 11 74,312,837 74,315,249 RGD:13524575
G Hey1 hes-related family bHLH transcription factor with YRPW motif 1 JBrowse link 2 95,320,147 95,322,701 RGD:13524575
G Hmgb1 high mobility group box 1 JBrowse link 12 7,082,529 7,090,246 RGD:10402056
G Hnrnpk heterogeneous nuclear ribonucleoprotein K JBrowse link 17 6,664,730 6,676,753 RGD:10058964
G Hrk harakiri, BCL2 interacting protein JBrowse link 12 44,008,879 44,029,211 RGD:13506949
G Igf1r insulin-like growth factor 1 receptor JBrowse link 1 128,924,921 129,213,816 RGD:12904708
G Igf2r insulin-like growth factor 2 receptor JBrowse link 1 48,176,095 48,264,482 RGD:2311519
G Itpr2 inositol 1,4,5-trisphosphate receptor, type 2 JBrowse link 4 180,423,452 180,800,088 RGD:6482791
G Jag1 jagged canonical Notch ligand 1 JBrowse link 3 130,079,361 130,114,781 RGD:13524575
G Kcnj10 potassium inwardly-rectifying channel, subfamily J, member 10 JBrowse link 13 90,722,945 90,753,338 RGD:8662893
G Kdr kinase insert domain receptor JBrowse link 14 34,727,677 34,787,127 RGD:1580568
G Keap1 Kelch-like ECH-associated protein 1 JBrowse link 8 22,250,518 22,259,868 RGD:6893397
G Kif1b kinesin family member 1B JBrowse link 5 165,994,803 166,133,497 RGD:12738468
RGD:12738469
G Kif5a kinesin family member 5A JBrowse link 7 70,515,832 70,552,897 RGD:13592920
G Lrrk2 leucine-rich repeat kinase 2 JBrowse link 7 132,857,311 133,018,549 RGD:5508417
G Maml1 mastermind-like transcriptional coactivator 1 JBrowse link 10 35,765,196 35,801,375 RGD:13524575
G Map1lc3a microtubule-associated protein 1 light chain 3 alpha JBrowse link 3 150,801,289 150,802,935 RGD:11561951
G Map3k5 mitogen-activated protein kinase kinase kinase 5 JBrowse link 1 15,412,603 15,613,752 RGD:10412312
G Mapk14 mitogen activated protein kinase 14 JBrowse link 20 5,933,290 5,995,137 RGD:10412312
G Mmp1 matrix metallopeptidase 1 JBrowse link 8 5,703,206 5,723,593 RGD:7207054
G Mmp2 matrix metallopeptidase 2 JBrowse link 19 15,542,771 15,570,589 RGD:7207054
RGD:13204793
G Mmp9 matrix metallopeptidase 9 JBrowse link 3 161,413,410 161,421,473 RGD:7207054
RGD:13204793
G Mobp myelin-associated oligodendrocyte basic protein JBrowse link 8 128,824,420 128,854,492 RGD:11554173
G Mstn myostatin JBrowse link 9 53,310,977 53,315,804 RGD:2303556
G Mt1 metallothionein 1 JBrowse link 19 11,301,991 11,303,007 RGD:6484130
G Mt2A metallothionein 2A JBrowse link 19 11,307,966 11,308,740 RGD:6482832
G Mt3 metallothionein 3 JBrowse link 19 11,324,708 11,326,112 RGD:6480495
RGD:6480627
RGD:6480625
G Mthfr methylenetetrahydrofolate reductase JBrowse link 5 164,844,642 164,864,360 RGD:11565111
RGD:11565173
G Mtnr1a melatonin receptor 1A JBrowse link 16 50,339,358 50,358,809 RGD:13524569
G Mtrex Mtr4 exosome RNA helicase JBrowse link 2 44,726,716 44,787,013 RGD:11041891
G Nefh neurofilament heavy JBrowse link 14 85,181,572 85,191,557 RGD:1302518
RGD:13525000
G Nefl neurofilament light JBrowse link 15 44,799,378 44,803,251 RGD:13525000
RGD:13525006
G Nefm neurofilament medium JBrowse link 15 44,855,307 44,860,604 RGD:9698444
G Nek1 NIMA-related kinase 1 JBrowse link 16 32,321,010 32,439,421 RGD:11554173
G Nfe2l2 nuclear factor, erythroid 2-like 2 JBrowse link 3 62,497,568 62,525,146 RGD:6893397
RGD:10412690
G Nos2 nitric oxide synthase 2 JBrowse link 10 66,188,290 66,221,621 RGD:5509065
G Notch1 notch receptor 1 JBrowse link 3 3,905,562 3,951,015 RGD:13524575
G Optn optineurin JBrowse link 17 77,167,700 77,218,374 RGD:6480502
RGD:8554872
RGD:11554173
RGD:6480506
RGD:6480504
G Pgf placental growth factor JBrowse link 6 108,994,016 109,004,598 RGD:6483573
G Pla2g4a phospholipase A2 group IVA JBrowse link 13 67,062,252 67,206,688 RGD:11554173
G Pon1 paraoxonase 1 JBrowse link 4 30,249,749 30,276,297 RGD:11554173
G Pon2 paraoxonase 2 JBrowse link 4 30,344,705 30,380,119 RGD:5509925
G Pon3 paraoxonase 3 JBrowse link 4 30,311,981 30,338,679 RGD:5509925
G Ppargc1a PPARG coactivator 1 alpha JBrowse link 14 63,095,291 63,190,688 RGD:6484265
RGD:7242019
G Ppp1r15a protein phosphatase 1, regulatory subunit 15A JBrowse link 1 101,511,899 101,515,043 RGD:9999418
G Prph peripherin JBrowse link 7 140,742,406 140,746,197 RGD:8554872
G Psmc4 proteasome 26S subunit, ATPase 4 JBrowse link 1 84,978,220 84,986,536 RGD:13592920
G Ptgs2 prostaglandin-endoperoxide synthase 2 JBrowse link 13 67,351,230 67,356,920 RGD:5688235
RGD:11554173
G Ptprz1 protein tyrosine phosphatase, receptor type Z1 JBrowse link 4 49,941,046 50,140,764 RGD:9590123
G Rara retinoic acid receptor, alpha JBrowse link 10 86,838,819 86,884,224 RGD:2314289
G RGD1359108 similar to RIKEN cDNA 3110043O21 JBrowse link 5 50,666,444 50,691,523 RGD:11554173
G Runx1 RUNX family transcription factor 1 JBrowse link 11 32,765,147 33,003,061 RGD:6482832
G Scfd1 sec1 family domain containing 1 JBrowse link 6 72,124,408 72,202,703 RGD:11554173
G Serpinf1 serpin family F member 1 JBrowse link 10 62,241,750 62,254,145 RGD:8554892
G Sigmar1 sigma non-opioid intracellular receptor 1 JBrowse link 5 58,121,824 58,124,687 RGD:11554173
G Sirt1 sirtuin 1 JBrowse link 20 26,831,971 26,851,587 RGD:2290573
G Slc11a2 solute carrier family 11 member 2 JBrowse link 7 142,025,812 142,062,892 RGD:5688710
G Slc1a2 solute carrier family 1 member 2 JBrowse link 3 92,518,679 92,665,731 RGD:1302517
RGD:11554173
G Slc31a1 solute carrier family 31 member 1 JBrowse link 5 78,222,504 78,249,358 RGD:13524567
G Slc6a1 solute carrier family 6 member 1 JBrowse link 4 146,258,842 146,292,176 RGD:11554173
G Sod1 superoxide dismutase 1 JBrowse link 11 30,363,282 30,368,858 RGD:2312367
RGD:11554173
RGD:13524551
RGD:8655880
G Sod2 superoxide dismutase 2 JBrowse link 1 47,914,757 47,921,587 RGD:11554173
G Sqstm1 sequestosome 1 JBrowse link 10 35,704,728 35,716,316 RGD:11554173
RGD:11561951
G Steap2 STEAP2 metalloreductase JBrowse link 4 25,506,604 25,527,088 RGD:13524567
G Tardbp TAR DNA binding protein JBrowse link 5 165,432,089 165,442,232 RGD:5687134
RGD:11554173
RGD:5687192
RGD:5687173
RGD:5687158
RGD:5687157
RGD:5687137
G Tfam transcription factor A, mitochondrial JBrowse link 20 18,594,057 18,606,106 RGD:6767572
G Tnf tumor necrosis factor JBrowse link 20 5,189,382 5,192,000 RGD:12904653
G Tnfrsf21 TNF receptor superfamily member 21 JBrowse link 9 20,546,159 20,621,051 RGD:11554173
G Tp53 tumor protein p53 JBrowse link 10 56,186,299 56,198,449 RGD:11554173
G Txnrd1 thioredoxin reductase 1 JBrowse link 7 26,946,124 26,984,400 RGD:5685032
G Ubqln2 ubiquilin 2 JBrowse link X 18,723,313 18,726,732 RGD:5147832
RGD:8554872
G Unc13a unc-13 homolog A JBrowse link 16 20,056,398 20,103,951 RGD:5686382
RGD:11554173
RGD:5686384
G Vapb VAMP associated protein B and C JBrowse link 3 171,832,558 171,871,042 RGD:5688230
RGD:8554872
G Vdr vitamin D receptor JBrowse link 7 139,344,452 139,394,138 RGD:11560790
G Vegfa vascular endothelial growth factor A JBrowse link 9 17,340,341 17,355,681 RGD:1580568
RGD:8554872
G Zfp106 zinc finger protein 106 JBrowse link 3 112,279,782 112,330,288 RGD:13592920
amyotrophic lateral sclerosis type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ang angiogenin JBrowse link 15 28,022,926 28,028,636 RGD:8554872
G Bcl2l1 Bcl2-like 1 JBrowse link 3 148,259,594 148,314,191 RGD:11554173
G Bsg basigin (Ok blood group) JBrowse link 7 12,875,536 12,882,753 RGD:11554173
G Calb2 calbindin 2 JBrowse link 19 41,482,743 41,509,617 RGD:11554173
G Casp1 caspase 1 JBrowse link 8 2,605,743 2,614,637 RGD:11554173
G Cd68 Cd68 molecule JBrowse link 10 56,268,726 56,270,605 RGD:11554173
G Cd7 Cd7 molecule JBrowse link 10 110,229,931 110,232,812 RGD:11554173
G Clu clusterin JBrowse link 15 42,626,612 42,665,858 RGD:11554173
G Cntf ciliary neurotrophic factor JBrowse link 1 229,599,009 229,601,032 RGD:11554173
G Crebbp CREB binding protein JBrowse link 10 11,590,994 11,721,039 RGD:11554173
G Cst3 cystatin C JBrowse link 3 143,219,671 143,223,544 RGD:11554173
G Ctsd cathepsin D JBrowse link 1 215,541,570 215,553,446 RGD:11554173
G Dbx1 developing brain homeobox 1 JBrowse link 1 104,969,218 104,973,648 RGD:11554173
G Dctn1 dynactin subunit 1 JBrowse link 4 114,876,770 114,896,567 RGD:7240710
RGD:8554872
G Fancg FA complementation group G JBrowse link 5 58,448,060 58,456,416 RGD:8554872
G Fgf6 fibroblast growth factor 6 JBrowse link 4 159,563,798 159,572,333 RGD:11554173
G Fig4 FIG4 phosphoinositide 5-phosphatase JBrowse link 20 45,922,806 46,044,754 RGD:8554872
G Fmo1 flavin containing dimethylaniline monoxygenase 1 JBrowse link 13 80,712,885 80,745,095 RGD:11554173
G Folh1 folate hydrolase 1 JBrowse link 1 150,323,768 150,395,415 RGD:737756
G Fos Fos proto-oncogene, AP-1 transcription factor subunit JBrowse link 6 109,300,433 109,303,299 RGD:11554173
G Fus FUS RNA binding protein JBrowse link 1 199,412,805 199,426,705 RGD:8554872
G Gabra1 gamma-aminobutyric acid type A receptor alpha1 subunit JBrowse link 10 27,310,718 27,371,802 RGD:11554173
G Gbx2 gastrulation brain homeobox 2 JBrowse link 9 97,063,265 97,065,855 RGD:11554173
G Gdi1 GDP dissociation inhibitor 1 JBrowse link X 156,400,734 156,407,396 RGD:11554173
G Gfap glial fibrillary acidic protein JBrowse link 10 90,990,762 90,999,435 RGD:11554173
G Gria3 glutamate ionotropic receptor AMPA type subunit 3 JBrowse link X 127,561,843 127,829,763 RGD:11554173
G Gsx2 GS homeobox 2 JBrowse link 14 35,650,985 35,652,709 RGD:11554173
G Hsf1 heat shock transcription factor 1 JBrowse link 7 117,538,523 117,565,478 RGD:11554173
G Ina internexin neuronal intermediate filament protein, alpha JBrowse link 1 266,782,835 266,794,389 RGD:11554173
G Jak3 Janus kinase 3 JBrowse link 16 20,107,471 20,120,678 RGD:11554173
G Jund JunD proto-oncogene, AP-1 transcription factor subunit JBrowse link 16 20,485,028 20,486,707 RGD:11554173
G Kif3c kinesin family member 3C JBrowse link 6 27,768,943 27,815,611 RGD:11554173
G Kif5a kinesin family member 5A JBrowse link 7 70,515,832 70,552,897 RGD:12798528
G Kif5c kinesin family member 5C JBrowse link 3 35,014,157 35,257,417 RGD:12798528
G Lat linker for activation of T cells JBrowse link 1 197,765,644 197,770,669 RGD:11554173
G Ldlr low density lipoprotein receptor JBrowse link 8 22,750,425 22,773,305 RGD:11554173
G Masp2 mannan-binding lectin serine peptidase 2 JBrowse link 5 165,415,105 165,429,857 RGD:8554872
G Mt1 metallothionein 1 JBrowse link 19 11,301,991 11,303,007 RGD:11554173
G Nefh neurofilament heavy JBrowse link 14 85,181,572 85,191,557 RGD:7240710
RGD:8554872
G Otog otogelin JBrowse link 1 102,258,124 102,327,201 RGD:11554173
G Pdgfa platelet derived growth factor subunit A JBrowse link 12 17,734,141 17,756,186 RGD:11554173
G Penk proenkephalin JBrowse link 5 17,056,412 17,061,762 RGD:11554173
G Pon1 paraoxonase 1 JBrowse link 4 30,249,749 30,276,297 RGD:11554173
G Prph peripherin JBrowse link 7 140,742,406 140,746,197 RGD:7240710
G Rnase4 ribonuclease A family member 4 JBrowse link 15 28,018,040 28,035,395 RGD:8554872
G Rxra retinoid X receptor alpha JBrowse link 3 6,272,560 6,295,354 RGD:11554173
G Selplg selectin P ligand JBrowse link 12 48,577,905 48,579,196 RGD:11554173
G Serpina3n serine (or cysteine) peptidase inhibitor, clade A, member 3N JBrowse link 6 128,073,344 128,080,878 RGD:11554173
G Setx senataxin JBrowse link 3 7,680,430 7,731,815 RGD:8554872
G Shc1 SHC adaptor protein 1 JBrowse link 2 188,745,503 188,757,066 RGD:11554173
G Six2 SIX homeobox 2 JBrowse link 6 8,952,572 8,955,893 RGD:11554173
G Snai1 snail family transcriptional repressor 1 JBrowse link 3 164,274,710 164,279,199 RGD:11554173
G Sncg synuclein, gamma JBrowse link 16 10,722,110 10,726,648 RGD:13592920
G Sod1 superoxide dismutase 1 JBrowse link 11 30,363,282 30,368,858 RGD:7240710
RGD:8554872
RGD:11554173
RGD:8655873
RGD:8655862
RGD:8655618
RGD:737689
G Sod2 superoxide dismutase 2 JBrowse link 1 47,914,757 47,921,587 RGD:13592920
G Tardbp TAR DNA binding protein JBrowse link 5 165,432,089 165,442,232 RGD:8554872
G Tiam1 TIAM Rac1 associated GEF 1 JBrowse link 11 29,931,083 30,061,173 RGD:11554173
G Tle3 TLE family member 3, transcriptional corepressor JBrowse link 8 66,296,509 66,342,186 RGD:11554173
G Tmsb4x thymosin beta 4, X-linked JBrowse link X 28,593,405 28,617,267 RGD:11554173
G Tnf tumor necrosis factor JBrowse link 20 5,189,382 5,192,000 RGD:11554173
G Ubqln2 ubiquilin 2 JBrowse link X 18,723,313 18,726,732 RGD:8554872
G Vapb VAMP associated protein B and C JBrowse link 3 171,832,558 171,871,042 RGD:8554872
G Vcp valosin-containing protein JBrowse link 5 58,426,548 58,445,953 RGD:8554872
G Vegfa vascular endothelial growth factor A JBrowse link 9 17,340,341 17,355,681 RGD:13592920
G Vim vimentin JBrowse link 17 80,882,715 80,891,200 RGD:11554173
G Vps54 VPS54 subunit of GARP complex JBrowse link 14 106,153,407 106,207,715 RGD:13592920
G Wnt7a Wnt family member 7A JBrowse link 4 122,994,425 123,040,609 RGD:11554173
G Xiap X-linked inhibitor of apoptosis JBrowse link X 128,409,425 128,455,786 RGD:11554173
amyotrophic lateral sclerosis type 10 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tardbp TAR DNA binding protein JBrowse link 5 165,432,089 165,442,232 RGD:7240710
RGD:8554872
amyotrophic lateral sclerosis type 11 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fig4 FIG4 phosphoinositide 5-phosphatase JBrowse link 20 45,922,806 46,044,754 RGD:7240710
RGD:8554872
amyotrophic lateral sclerosis type 12 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Optn optineurin JBrowse link 17 77,167,700 77,218,374 RGD:7240710
RGD:8554872
amyotrophic lateral sclerosis type 14 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Vcp valosin-containing protein JBrowse link 5 58,426,548 58,445,953 RGD:7240710
RGD:8554872
amyotrophic lateral sclerosis type 15 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ubqln2 ubiquilin 2 JBrowse link X 18,723,313 18,726,732 RGD:7240710
RGD:8554872
amyotrophic lateral sclerosis type 16 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sigmar1 sigma non-opioid intracellular receptor 1 JBrowse link 5 58,121,824 58,124,687 RGD:7240710
RGD:8554872
amyotrophic lateral sclerosis type 17 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chmp2b charged multivesicular body protein 2B JBrowse link 11 2,666,405 2,692,213 RGD:7240710
RGD:8554872
amyotrophic lateral sclerosis type 18 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pfn1 profilin 1 JBrowse link 10 57,273,003 57,275,708 RGD:7240710
RGD:8554872
amyotrophic lateral sclerosis type 19 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Erbb4 erb-b2 receptor tyrosine kinase 4 JBrowse link 9 75,021,790 76,178,936 RGD:7240710
RGD:8554872
amyotrophic lateral sclerosis type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Als2 alsin Rho guanine nucleotide exchange factor ALS2 JBrowse link 9 65,961,361 66,034,396 RGD:7240710
RGD:8554872
amyotrophic lateral sclerosis type 20 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hnrnpa1 heterogeneous nuclear ribonucleoprotein A1 JBrowse link 7 144,865,302 144,871,592 RGD:7240710
RGD:8554872
amyotrophic lateral sclerosis type 21 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Matr3 matrin 3 JBrowse link 18 28,351,691 28,390,764 RGD:7240710
RGD:8554872
amyotrophic lateral sclerosis type 22 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tuba4a tubulin, alpha 4A JBrowse link 9 82,415,599 82,419,918 RGD:7240710
RGD:8554872
amyotrophic lateral sclerosis type 23 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Anxa11 annexin A11 JBrowse link 16 3,867,193 3,912,043 RGD:8554872
RGD:7240710
Amyotrophic Lateral Sclerosis Type 24 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nek1 NIMA-related kinase 1 JBrowse link 16 32,321,010 32,439,421 RGD:8554872
RGD:7240710
Amyotrophic Lateral Sclerosis Type 25 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kif5a kinesin family member 5A JBrowse link 7 70,515,832 70,552,897 RGD:8554872
RGD:7240710
amyotrophic lateral sclerosis type 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Setx senataxin JBrowse link 3 7,680,430 7,731,815 RGD:7240710
RGD:8554872
amyotrophic lateral sclerosis type 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Spg11 SPG11 vesicle trafficking associated, spatacsin JBrowse link 3 113,999,600 114,064,438 RGD:7240710
RGD:8554872
amyotrophic lateral sclerosis type 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fus FUS RNA binding protein JBrowse link 1 199,412,805 199,426,705 RGD:7240710
RGD:8554872
RGD:9685712
amyotrophic lateral sclerosis type 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Apcdd1l APC down-regulated 1 like JBrowse link 3 171,879,728 171,958,155 RGD:8554872
G Atp5f1e ATP synthase F1 subunit epsilon JBrowse link 3 172,563,105 172,566,007 RGD:8554872
G Ctsz cathepsin Z JBrowse link 3 172,527,107 172,537,877 RGD:8554872
G Edn3 endothelin 3 JBrowse link 3 172,856,730 172,879,276 RGD:8554872
G Gnas GNAS complex locus JBrowse link 3 172,374,957 172,434,988 RGD:8554872
G Mir296 microRNA 296 JBrowse link 3 172,357,490 172,357,567 RGD:8554872
G Mir298 microRNA 298 JBrowse link 3 172,357,943 172,358,024 RGD:8554872
G Nelfcd negative elongation factor complex member C/D JBrowse link 3 172,510,840 172,527,118 RGD:8554872
G Npepl1 aminopeptidase-like 1 JBrowse link 3 172,195,115 172,207,685 RGD:8554872
G Prelid3b PRELI domain containing 3B JBrowse link 3 172,567,092 172,574,382 RGD:8554872
G Stx16 syntaxin 16 JBrowse link 3 172,154,739 172,183,699 RGD:8554872
G Tubb1 tubulin, beta 1 class VI JBrowse link 3 172,550,252 172,558,089 RGD:8554872
G Vapb VAMP associated protein B and C JBrowse link 3 171,832,558 171,871,042 RGD:7240710
RGD:8554872
G Zfp831 zinc finger protein 831 JBrowse link 3 172,691,455 172,804,804 RGD:8554872
amyotrophic lateral sclerosis type 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ang angiogenin JBrowse link 15 28,022,926 28,028,636 RGD:7240710
RGD:8554872
G Rnase4 ribonuclease A family member 4 JBrowse link 15 28,018,040 28,035,395 RGD:8554872
Amyotrophic Lateral Sclerosis, Autosomal Recessive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Als2 alsin Rho guanine nucleotide exchange factor ALS2 JBrowse link 9 65,961,361 66,034,396 RGD:8554872
G Optn optineurin JBrowse link 17 77,167,700 77,218,374 RGD:8554872
amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Trpm7 transient receptor potential cation channel, subfamily M, member 7 JBrowse link 3 119,258,189 119,347,084 RGD:5685005
RGD:11554173
RGD:7240710
RGD:5685008
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 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
Brown-Vialetto-Van Laere syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc52a2 solute carrier family 52 member 2 JBrowse link 7 117,605,038 117,608,460 RGD:11554173
G Slc52a3 solute carrier family 52 member 3 JBrowse link 3 147,503,266 147,517,935 RGD:8554872
RGD:11554173
Brown-Vialetto-Van Laere Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc52a2 solute carrier family 52 member 2 JBrowse link 7 117,605,038 117,608,460 RGD:8554872
G Slc52a3 solute carrier family 52 member 3 JBrowse link 3 147,503,266 147,517,935 RGD:8554872
RGD:7240710
Brown-Vialetto-Van Laere Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adck5 aarF domain containing kinase 5 JBrowse link 7 117,643,976 117,661,789 RGD:8554872
G Bop1 BOP1 ribosomal biogenesis factor JBrowse link 7 117,514,529 117,538,342 RGD:8554872
G Cpsf1 cleavage and polyadenylation specific factor 1 JBrowse link 7 117,661,779 117,672,373 RGD:8554872
G Cyc1 cytochrome c-1 JBrowse link 7 117,409,576 117,411,953 RGD:8554872
G Cyhr1 cysteine and histidine rich 1 JBrowse link 7 117,720,909 117,722,734 RGD:8554872
G Dgat1 diacylglycerol O-acyltransferase 1 JBrowse link 7 117,566,363 117,576,735 RGD:8554872
G Exosc4 exosome component 4 JBrowse link 7 117,390,302 117,393,044 RGD:8554872
G Fbxl6 F-box and leucine-rich repeat protein 6 JBrowse link 7 117,602,056 117,604,954 RGD:8554872
G Foxh1 forkhead box H1 JBrowse link 7 117,730,307 117,733,076 RGD:8554872
G Gpaa1 glycosylphosphatidylinositol anchor attachment 1 JBrowse link 7 117,394,367 117,397,950 RGD:8554872
G Grina glutamate ionotropic receptor NMDA type subunit associated protein 1 JBrowse link 7 117,304,742 117,307,916 RGD:8554872
G Hgh1 HGH1 homolog JBrowse link 7 117,434,419 117,437,208 RGD:8554872
G Hsf1 heat shock transcription factor 1 JBrowse link 7 117,538,523 117,565,478 RGD:8554872
G Kifc2 kinesin family member C2 JBrowse link 7 117,722,732 117,730,702 RGD:8554872
G Maf1 MAF1 homolog, negative regulator of RNA polymerase III JBrowse link 7 117,417,643 117,420,722 RGD:8554872
G Mroh1 maestro heat-like repeat family member 1 JBrowse link 7 117,445,191 117,472,418 RGD:8554872
G Oplah 5-oxoprolinase (ATP-hydrolysing) JBrowse link 7 117,353,951 117,394,205 RGD:8554872
G Parp10 poly (ADP-ribose) polymerase family, member 10 JBrowse link 7 117,291,592 117,300,878 RGD:8554872
G Plec plectin JBrowse link 7 117,230,319 117,291,859 RGD:8554872
G Scrt1 scratch family transcriptional repressor 1 JBrowse link 7 117,583,453 117,587,103 RGD:8554872
G Scx scleraxis bHLH transcription factor JBrowse link 7 117,519,075 117,521,093 RGD:8554872
G Sharpin SHANK-associated RH domain interactor JBrowse link 7 117,413,151 117,417,455 RGD:8554872
G Slc39a4 solute carrier family 39 member 4 JBrowse link 7 117,675,718 117,682,586 RGD:8554872
G Slc52a2 solute carrier family 52 member 2 JBrowse link 7 117,605,038 117,608,460 RGD:7240710
RGD:8554872
G Spatc1 spermatogenesis and centriole associated 1 JBrowse link 7 117,326,279 117,349,957 RGD:8554872
G Tmem249 transmembrane protein 249 JBrowse link 7 117,599,001 117,601,894 RGD:8554872
G Tonsl tonsoku-like, DNA repair protein JBrowse link 7 117,688,397 117,703,139 RGD:8554872
G Vps28 VPS28 subunit of ESCRT-I JBrowse link 7 117,684,339 117,688,187 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
Congenital Arthrogryposis with Anterior Horn Cell Disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gle1 GLE1 RNA export mediator JBrowse link 3 8,498,098 8,530,218 RGD:7240710
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
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
FTDALS1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G RGD1359108 similar to RIKEN cDNA 3110043O21 JBrowse link 5 50,666,444 50,691,523 RGD:7240710
RGD:8554872
RGD:11554173
G Sqstm1 sequestosome 1 JBrowse link 10 35,704,728 35,716,316 RGD:8554872
FTDALS2 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:7240710
RGD:8554872
FTDALS3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sqstm1 sequestosome 1 JBrowse link 10 35,704,728 35,716,316 RGD:7240710
RGD:8554872
FTDALS4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tbk1 TANK-binding kinase 1 JBrowse link 7 63,655,247 63,687,978 RGD:8554872
RGD:7240710
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
Jankovic Rivera Syndrome 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
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:8554872
RGD:11576241
RGD:11576229
RGD:7240710
G Gdnf glial cell derived neurotrophic factor JBrowse link 2 56,884,181 56,912,964 RGD:6218978
motor neuritis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myh14 myosin heavy chain 14 JBrowse link 1 100,608,975 100,671,086 RGD:8554872
poliomyelitis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pvr PVR cell adhesion molecule JBrowse link 1 80,820,306 80,835,712 RGD:11554173
Primary Lateral Sclerosis Juvenile term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Als2 alsin Rho guanine nucleotide exchange factor ALS2 JBrowse link 9 65,961,361 66,034,396 RGD:7240710
RGD:8554872
progressive bulbar palsy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc52a3 solute carrier family 52 member 3 JBrowse link 3 147,503,266 147,517,935 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
progressive muscular atrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Capn3 calpain 3 JBrowse link 3 112,227,486 112,278,408 RGD:8554872
G Sgcb sarcoglycan, beta JBrowse link 14 37,113,194 37,128,623 RGD:8554872
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
Scapuloperoneal Syndrome, Neurogenic, 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
spinal muscular atrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
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 Atp7a ATPase copper transporting alpha JBrowse link X 77,076,085 77,193,644 RGD:13592920
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 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 Mars1 methionyl-tRNA synthetase 1 JBrowse link 7 70,585,011 70,602,425 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 Setx senataxin JBrowse link 3 7,680,430 7,731,815 RGD:8554872
G Sgcb sarcoglycan, beta JBrowse link 14 37,113,194 37,128,623 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 Spg7 SPG7 matrix AAA peptidase subunit, paraplegin JBrowse link 19 55,880,549 55,914,729 RGD:8554872
G Tdrkh tudor and KH domain containing JBrowse link 2 195,649,813 195,674,217 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
G Vapb VAMP associated protein B and C JBrowse link 3 171,832,558 171,871,042 RGD:5688230
RGD:8554872
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:8554872
RGD:7240710
Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant 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, 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
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Autosomal Dominant 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
G Tia1 TIA1 cytotoxic granule-associated RNA binding protein JBrowse link 4 118,207,845 118,238,246 RGD:8554872
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Autosomal Dominant 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
survival motor neuron 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 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:11554173
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
Worster Drought Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tmtc4 transmembrane O-mannosyltransferase targeting cadherins 4 JBrowse link 15 109,338,762 109,394,905 RGD:8554872
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

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
            Congenital Arthrogryposis with Anterior Horn Cell Disease 1
            Hereditary Sensorimotor Neuropathy with Upper Motor Neuron, Visual Pathway and Autonomic Disturbance 0
            Motor Neuron Disease with Dementia and Ophthalmoplegia 0
            Primary Lateral Sclerosis Juvenile 1
            amyotrophic lateral sclerosis + 207
            lateral sclerosis 0
            motor neuritis + 1
            nonparalytic poliomyelitis 0
            poliomyelitis + 1
            progressive bulbar palsy + 30
            progressive muscular atrophy 2
            pseudobulbar palsy + 0
            spinal muscular atrophy + 111
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
                Congenital Arthrogryposis with Anterior Horn Cell Disease 1
                Hereditary Sensorimotor Neuropathy with Upper Motor Neuron, Visual Pathway and Autonomic Disturbance 0
                Motor Neuron Disease with Dementia and Ophthalmoplegia 0
                Primary Lateral Sclerosis Juvenile 1
                amyotrophic lateral sclerosis + 207
                lateral sclerosis 0
                motor neuritis + 1
                nonparalytic poliomyelitis 0
                poliomyelitis + 1
                progressive bulbar palsy + 30
                progressive muscular atrophy 2
                pseudobulbar palsy + 0
                spinal muscular atrophy + 111
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.