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motor neuron disease - Ontology Report - Rat Genome Database

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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:motor neuron disease
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Accession:DOID:231 term browser browse the term
Definition:A neurodegenerative disease that is located_in the motor neurons. (DO)
Synonyms:exact_synonym: Lower Motor Neuron Disease;   Motor System Disease;   Motor System Diseases;   familial motor neuron disease;   motor neuron diseases;   secondary motor neuron disease;   upper motor neuron disease
 narrow_synonym: MADRAS MOTOR NEURON DISEASE
 primary_id: MESH:D016472
 xref: EFO:0003782;   ICD9CM:335.2
For additional species annotation, visit the Alliance of Genome Resources.

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motor neuron disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aif1 allograft inflammatory factor 1 IEP protein:increased expression:cervical spinal cord (rat) RGD PMID:18931666 RGD:2313029 NCBI chr20:3,651,435...3,657,341
Ensembl chr20:3,646,777...3,652,668 		JBrowse link
G Gars1 glycyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Motor neuron disease ClinVar NCBI chr 4:85,484,939...85,542,876
Ensembl chr 4:84,171,596...84,212,609 		JBrowse link
G Gstt1 glutathione S-transferase theta 1 susceptibility ISO DNA:deletion: : RGD PMID:10215103 RGD:5490213 NCBI chr20:12,856,068...12,873,020
Ensembl chr20:12,856,669...12,873,585 		JBrowse link
G Htra2 HtrA serine peptidase 2 treatment ISO RGD PMID:22976834 PMID:22976834 RGD:10402865, RGD:10402865 NCBI chr 4:117,114,631...117,117,793
Ensembl chr 4:115,556,916...115,560,095 		JBrowse link
G Mpz myelin protein zero ISO ClinVar Annotator: match by term: Motor neuron disease ClinVar PMID:25741868 NCBI chr13:86,103,290...86,109,156
Ensembl chr13:83,570,811...83,576,679 		JBrowse link
G Mt3 metallothionein 3 IMP RGD PMID:16382788 RGD:6480623 NCBI chr19:10,854,676...10,856,080
Ensembl chr19:10,848,755...10,850,158 		JBrowse link
G Nek1 NIMA-related kinase 1 ISO ClinVar Annotator: match by term: Motor neuron disease ClinVar PMID:16199547 PMID:22499340 PMID:25741868 PMID:27455347 PMID:28089114 More... NCBI chr16:34,009,092...34,137,418
Ensembl chr16:28,998,231...29,117,723 		JBrowse link
G Nos1 nitric oxide synthase 1 ISO protein:decreased expression;motor neuron RGD PMID:12200626 RGD:5132629 NCBI chr12:44,276,011...44,456,371
Ensembl chr12:38,626,714...38,710,945 		JBrowse link
G Optn optineurin ISO ClinVar Annotator: match by term: Motor neuron disease ClinVar PMID:21613650 PMID:23138764 PMID:23447461 PMID:25382069 PMID:26467025 More... NCBI chr17:78,118,847...78,169,543
Ensembl chr17:73,209,575...73,260,251 		JBrowse link
G Park7 Parkinsonism associated deglycase ISO ClinVar Annotator: match by term: Motor neuron disease ClinVar PMID:25741868 NCBI chr 5:166,636,551...166,659,825
Ensembl chr 5:161,353,719...161,376,970 		JBrowse link
G Pnpla6 patatin-like phospholipase domain containing 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18313024 PMID:20603202 NCBI chr12:6,372,284...6,401,632
Ensembl chr12:1,560,363...1,603,734 		JBrowse link
G Prdx3 peroxiredoxin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16702190 NCBI chr 1:269,987,691...270,000,111
Ensembl chr 1:260,001,637...260,014,111 		JBrowse link
G Rhot1 ras homolog family member T1 ISS MouseDO NCBI chr10:65,685,687...65,760,682
Ensembl chr10:65,170,560...65,262,804 		JBrowse link
G Slc52a3 solute carrier family 52 member 3 ISO ClinVar Annotator: match by term: Madras motor neuron disease ClinVar PMID:25741868 PMID:28492532 PMID:32579787 NCBI chr 3:160,959,233...160,976,170
Ensembl chr 3:140,509,473...140,514,096 		JBrowse link
G Sod1 superoxide dismutase 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Motor neuron disease
human transgene in rat model		 CTD
ClinVar
RGD		 PMID:1259395 PMID:2517465 PMID:7635196 PMID:7673954 PMID:7997024 More... RGD:2290184 NCBI chr11:42,942,742...42,948,399
Ensembl chr11:29,456,558...29,462,249 		JBrowse link
G Tardbp TAR DNA binding protein ISO DNA:missense mutation:cds:p.A315T(human)
ClinVar Annotator: match by term: Motor neuron disease		 ClinVar
RGD		 PMID:18372902 PMID:18931000 PMID:19224587 PMID:19760257 PMID:23881933 More... RGD:5687193 NCBI chr 5:164,330,452...164,348,435
Ensembl chr 5:159,051,799...159,062,055 		JBrowse link
G Tbk1 TANK-binding kinase 1 ISO ClinVar Annotator: match by term: Motor neuron disease ClinVar PMID:21447600 PMID:25700176 PMID:25803835 PMID:26476236 PMID:26581300 More... NCBI chr 7:58,963,319...58,996,357
Ensembl chr 7:57,077,830...57,110,892 		JBrowse link
G Vim vimentin ISO CTD Direct Evidence: marker/mechanism CTD PMID:16831193 NCBI chr17:81,577,261...81,585,746
Ensembl chr17:76,668,647...76,677,187 		JBrowse link
adult spinal muscular atrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smn1 survival of motor neuron 1, telomeric ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Spinal muscular atrophy, type IV		 OMIM
CTD
ClinVar		 PMID:9536098 PMID:17576681 PMID:21542063 PMID:24844453 PMID:25741868 More... NCBI chr 2:33,224,115...33,235,162
Ensembl chr 2:31,490,015...31,501,060 		JBrowse link
amyotrophic lateral sclerosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca7 ATP binding cassette subfamily A member 7 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 NCBI chr 7:10,342,092...10,362,094
Ensembl chr 7:9,691,449...9,711,425 		JBrowse link
G Actl6b actin-like 6B ISO CTD Direct Evidence: marker/mechanism CTD PMID:28973294 NCBI chr12:24,761,660...24,778,193
Ensembl chr12:19,124,916...19,141,376 		JBrowse link
G Adarb1 adenosine deaminase, RNA-specific, B1 ISO
ISS		 mRNA:decreased expression:motor neuron: MouseDO
RGD		 PMID:20372915 PMID:22226999 RGD:10755336, RGD:13432092 NCBI chr20:11,222,171...11,350,416
Ensembl chr20:11,222,583...11,350,852 		JBrowse link
G Akt1 AKT serine/threonine kinase 1 ISO protein:increased expression:skeletal muscle RGD PMID:18273716 RGD:5509081 NCBI chr 6:137,534,810...137,555,131
Ensembl chr 6:131,713,720...131,733,921 		JBrowse link
G Als2 alsin Rho guanine nucleotide exchange factor ALS2 susceptibility ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis | ClinVar Annotator: match by term: Charcot disease ClinVar
RGD		 PMID:11586298 PMID:16199547 PMID:24315819 PMID:25741868 PMID:26467025 More... RGD:1599080 NCBI chr 9:68,107,310...68,180,192
Ensembl chr 9:60,613,167...60,670,737 		JBrowse link
G Ang angiogenin no_association ISO DNA:mutations:multiple
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis
DNA:missense mutations
DNA:missense mutation, SNPs: :p.I46V, rs11701, rs2228653 (human)
protein:increased expression:cerebrospinal fluid		 ClinVar
RGD		 PMID:25741868 PMID:22190368 PMID:16501576 PMID:17462671 PMID:19177252 RGD:6892707, RGD:6892718, RGD:6892716, RGD:6892713 NCBI chr15:26,786,233...26,796,883 JBrowse link
G Anxa11 annexin A11 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28469040 PMID:28492532 More... NCBI chr16:1,419,627...1,464,590
Ensembl chr16:1,410,756...1,457,797 		JBrowse link
G Aox1 aldehyde oxidase 1 ISO RGD PMID:7570184 RGD:734575 NCBI chr 9:67,073,831...67,152,980
Ensembl chr 9:59,579,649...59,658,770 		JBrowse link
G Apoe apolipoprotein E severity ISO DNA:missense mutations, haplotypes:cds:p.C112R, p.R158C (human) RGD PMID:8899655 RGD:12880359 NCBI chr 1:88,481,889...88,485,816
Ensembl chr 1:79,353,916...79,357,932 		JBrowse link
G Aqp4 aquaporin 4 IEP mRNA, protein:increased expression:spinal cord
protein:increased expression:brainstem		 RGD PMID:19089902 PMID:22987392 RGD:5490153, RGD:8662893 NCBI chr18:6,782,389...6,799,034
Ensembl chr18:6,507,903...6,524,856 		JBrowse link
G Atg5 autophagy related 5 ISO mRNA:increased expression:spinal cord RGD PMID:23851366 RGD:11561951 NCBI chr20:49,380,835...49,471,826
Ensembl chr20:47,798,290...47,889,209 		JBrowse link
G Atox1 antioxidant 1 copper chaperone disease_progression ISO protein:increased expression:spinal chord RGD PMID:19656261 RGD:13524567 NCBI chr10:40,065,525...40,080,627
Ensembl chr10:39,564,857...39,579,950 		JBrowse link
G Atxn2 ataxin 2 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:25741868 PMID:27377857 PMID:28478440 NCBI chr12:40,413,657...40,509,895
Ensembl chr12:34,754,137...34,851,479 		JBrowse link
G Bad BCL2-associated agonist of cell death disease_progression ISO RGD PMID:10582606 RGD:13506907 NCBI chr 1:213,562,719...213,572,034
Ensembl chr 1:204,131,501...204,142,823 		JBrowse link
G Bak1 BCL2-antagonist/killer 1 treatment ISO RGD PMID:20890041 RGD:13506803 NCBI chr20:5,102,334...5,111,615
Ensembl chr20:5,100,480...5,109,264 		JBrowse link
G Bax BCL2 associated X, apoptosis regulator treatment
disease_progression
severity		 ISO RGD PMID:24699224 PMID:10582606 PMID:20195368 PMID:20890041 PMID:21193837 RGD:13506797, RGD:13506907, RGD:13506805, RGD:13506803, RGD:13506800 NCBI chr 1:105,076,472...105,081,906
Ensembl chr 1:95,938,808...95,945,368 		JBrowse link
G Bcl2 BCL2, apoptosis regulator disease_progression ISO RGD PMID:10582606 RGD:13506907 NCBI chr13:23,204,464...23,366,900
Ensembl chr13:22,684,989...22,853,743
Ensembl chr13:22,684,989...22,853,743 		JBrowse link
G Bcl2l1 Bcl2-like 1 treatment
disease_progression		 IMP
ISO		 RGD PMID:18543336 PMID:10582606 RGD:13506902, RGD:13506907 NCBI chr 3:161,713,777...161,764,844
Ensembl chr 3:141,253,523...141,303,479
Ensembl chr 1:141,253,523...141,303,479 		JBrowse link
G Becn1 beclin 1 ISO mRNA:increased expression:spinal cord RGD PMID:23851366 RGD:11561951 NCBI chr10:86,731,649...86,747,002
Ensembl chr10:86,231,388...86,246,742 		JBrowse link
G Bicd2 BICD cargo adaptor 2 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar NCBI chr17:15,449,011...15,511,423
Ensembl chr17:15,259,773...15,304,889 		JBrowse link
G Bid BH3 interacting domain death agonist ISO RGD PMID:29440992 RGD:13506949 NCBI chr 4:155,785,366...155,808,775
Ensembl chr 4:154,113,198...154,134,720 		JBrowse link
G Bnip3l BCL2 interacting protein 3 like ISO RGD PMID:29440992 RGD:13506949 NCBI chr15:45,350,081...45,373,213
Ensembl chr15:41,174,594...41,197,803 		JBrowse link
G Bptf bromodomain PHD finger transcription factor ISO mRNA,protein:increased expression:spinal cord: RGD PMID:9225734 RGD:9586057 NCBI chr10:92,480,007...92,582,485
Ensembl chr10:91,982,758...92,082,769 		JBrowse link
G C3 complement C3 IEP RGD PMID:19050293 RGD:5130169 NCBI chr 9:2,174,412...2,201,339
Ensembl chr 9:2,087,437...2,114,429 		JBrowse link
G C5ar1 complement C5a receptor 1 IMP RGD PMID:19050293 RGD:5130169 NCBI chr 1:86,077,309...86,088,001 JBrowse link
G Cacna1a calcium voltage-gated channel subunit alpha1 A ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 NCBI chr19:40,425,560...40,724,810
Ensembl chr19:23,520,741...23,823,225 		JBrowse link
G Calca calcitonin-related polypeptide alpha ISO RGD PMID:21964254 RGD:5684010 NCBI chr 1:178,312,636...178,317,588
Ensembl chr 1:168,878,214...168,883,105 		JBrowse link
G Camk1g calcium/calmodulin-dependent protein kinase IG ISO CTD Direct Evidence: marker/mechanism CTD PMID:23624525 NCBI chr13:107,406,583...107,430,332
Ensembl chr13:104,877,910...104,901,556 		JBrowse link
G Casp12 caspase 12 IEP protein:increased activity:spinal cord RGD PMID:16847061 RGD:2311466 NCBI chr 8:10,927,188...10,954,442
Ensembl chr 8:2,642,434...2,674,037 		JBrowse link
G Casp3 caspase 3 IEP protein:increased activity:spinal cord RGD PMID:16847061 RGD:2311466 NCBI chr16:52,395,539...52,413,794
Ensembl chr16:45,662,910...45,684,648 		JBrowse link
G Casp9 caspase 9 IEP protein:increased activity:spinal cord RGD PMID:16847061 RGD:2311466 Ensembl chr 5:154,109,046...154,126,626 JBrowse link
G Ccnf cyclin F ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 NCBI chr10:13,757,884...13,783,669
Ensembl chr10:13,253,380...13,279,101 		JBrowse link
G Ccr2 C-C motif chemokine receptor 2 disease_progression ISO protein:increased expression:plasma:
protein:decreased expression:monocyte:		 RGD PMID:16857270 PMID:16857270 RGD:8657363, RGD:8657363 NCBI chr 8:132,611,883...132,619,106
Ensembl chr 8:123,734,430...123,742,100 		JBrowse link
G Ccs copper chaperone for superoxide dismutase treatment ISO RGD PMID:26826269 RGD:13524551 NCBI chr 1:211,543,192...211,564,354
Ensembl chr 1:202,113,804...202,134,915 		JBrowse link
G Cd40lg CD40 ligand ISO CTD Direct Evidence: therapeutic CTD
RGD		 PMID:20348957 PMID:20348957 RGD:5490547 NCBI chr  X:140,164,341...140,176,057
Ensembl chr  X:135,126,969...135,138,306 		JBrowse link
G Cdk5 cyclin-dependent kinase 5 ISO RGD PMID:11343650 RGD:734741 NCBI chr 4:11,647,098...11,651,606
Ensembl chr 4:10,754,687...10,760,112 		JBrowse link
G Cfap410 cilia and flagella associated protein 410 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis		 CTD
ClinVar		 PMID:25741868 PMID:27455348 NCBI chr20:10,687,506...10,694,366
Ensembl chr20:10,687,863...10,694,737 		JBrowse link
G Chchd10 coiled-coil-helix-coiled-coil-helix domain containing 10 ISO ClinVar Annotator: match by term: Charcot disease ClinVar PMID:25576308 PMID:25741868 PMID:28492532 PMID:29540477 PMID:30014597 More... NCBI chr20:12,725,274...12,730,295
Ensembl chr20:12,725,842...12,732,763 		JBrowse link
G Chmp2b charged multivesicular body protein 2B ISO DNA:mutations:cds:Q206H, I29V (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:16807408 PMID:16807408 RGD:5688711 NCBI chr11:16,783,971...16,810,500
Ensembl chr11:3,337,494...3,385,181 		JBrowse link
G Chrna3 cholinergic receptor nicotinic alpha 3 subunit ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 NCBI chr 8:64,297,755...64,311,251
Ensembl chr 8:55,401,702...55,415,165 		JBrowse link
G Chrna4 cholinergic receptor nicotinic alpha 4 subunit ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:29454195 PMID:31628766 More... NCBI chr 3:188,506,802...188,535,558
Ensembl chr 3:168,136,266...168,156,957 		JBrowse link
G Chrnb4 cholinergic receptor nicotinic beta 4 subunit ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 NCBI chr 8:64,312,644...64,333,319
Ensembl chr 8:55,418,313...55,437,027 		JBrowse link
G Cntf ciliary neurotrophic factor susceptibility ISO RGD PMID:11951178 RGD:734796 NCBI chr 1:219,312,512...219,314,535
Ensembl chr 1:209,887,854...209,889,877 		JBrowse link
G Ctsh cathepsin H ISO mRNA, protein:increased expression:spinal cord RGD PMID:17583678 RGD:5686391 NCBI chr 8:99,488,756...99,507,639
Ensembl chr 8:90,608,941...90,627,824 		JBrowse link
G Dao D-amino-acid oxidase ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis | ClinVar Annotator: match by term: Charcot disease ClinVar PMID:25741868 NCBI chr12:48,252,900...48,275,964
Ensembl chr12:42,592,343...42,612,741 		JBrowse link
G Dbr1 debranching RNA lariats 1 ISO CTD Direct Evidence: therapeutic CTD PMID:23104007 NCBI chr 8:109,018,364...109,030,092
Ensembl chr 8:100,139,034...100,151,030 		JBrowse link
G Dctn1 dynactin subunit 1 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis, susceptibility to | ClinVar Annotator: match by term: Charcot disease ClinVar PMID:15326253 PMID:16199547 PMID:16240349 PMID:17824900 PMID:18812314 More... NCBI chr 4:117,228,722...117,261,528
Ensembl chr 4:115,661,638...115,703,815 		JBrowse link
G Ddx20 DEAD-box helicase 20 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 NCBI chr 2:195,847,105...195,859,989
Ensembl chr 2:193,158,823...193,166,774 		JBrowse link
G Dnajc7 DnaJ heat shock protein family (Hsp40) member C7 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 NCBI chr10:86,018,977...86,055,419
Ensembl chr10:85,518,621...85,555,575 		JBrowse link
G Dnmt3a DNA methyltransferase 3 alpha ISO protein:decreased expression:mitochondrion: RGD PMID:24399935 RGD:9589066 NCBI chr 6:32,507,316...32,621,678
Ensembl chr 6:26,822,609...26,896,687 		JBrowse link
G Dpp6 dipeptidyl peptidase like 6 no_association ISO DNA:SNP:intron:rs10260404 (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:18084291 PMID:18708572 PMID:20137488 RGD:5687188, RGD:5687181 NCBI chr 4:8,323,220...9,242,694
Ensembl chr 4:7,591,009...8,508,532 		JBrowse link
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar NCBI chr 6:135,436,375...135,502,117
Ensembl chr 6:129,609,397...129,680,883 		JBrowse link
G Eif2ak2 eukaryotic translation initiation factor 2-alpha kinase 2 ISO protein:increased expression:spinal cord RGD PMID:12675919 RGD:2301741 NCBI chr 6:21,941,147...21,977,115
Ensembl chr 6:16,188,979...16,224,971 		JBrowse link
G Elp3 elongator acetyltransferase complex subunit 3 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 NCBI chr15:43,930,234...43,992,065
Ensembl chr15:39,754,632...39,816,445 		JBrowse link
G Epg5 ectopic P-granules 5 autophagy tethering factor ISS MouseDO NCBI chr18:73,679,106...73,776,694
Ensembl chr18:71,404,010...71,501,502 		JBrowse link
G Epo erythropoietin disease_progression ISO protein:decreased expression:cerebrospinal fluid RGD PMID:17368721 RGD:10395391 NCBI chr12:24,841,285...24,844,725
Ensembl chr12:19,204,508...19,207,946 		JBrowse link
G Erbb4 erb-b2 receptor tyrosine kinase 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis | ClinVar Annotator: match by term: Charcot disease		 CTD
ClinVar		 PMID:25741868 PMID:28492532 PMID:29895397 PMID:32065797 NCBI chr 9:76,973,386...78,045,633
Ensembl chr 9:69,531,481...70,596,595 		JBrowse link
G Ercc6l2 ERCC excision repair 6 like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30879219 NCBI chr17:1,055,881...1,323,207
Ensembl chr17:1,216,428...1,310,275 		JBrowse link
G Esrra estrogen related receptor, alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:22975021 NCBI chr 1:213,533,309...213,543,432
Ensembl chr 1:204,104,101...204,114,268 		JBrowse link
G Ewsr1 EWS RNA-binding protein 1 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 NCBI chr14:84,179,413...84,208,149
Ensembl chr14:79,965,368...79,994,544 		JBrowse link
G Fig4 FIG4 phosphoinositide 5-phosphatase ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis | ClinVar Annotator: match by term: Charcot disease ClinVar PMID:2319578 PMID:7496176 PMID:9536098 PMID:17572665 PMID:17576681 More... NCBI chr20:46,183,225...46,306,686
Ensembl chr20:44,600,603...44,723,844 		JBrowse link
G Fus Fus RNA binding protein ISO ClinVar Annotator: match by term: Charcot disease
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:20138404 PMID:22863194 PMID:25382069 PMID:25558820 PMID:25741868 More... RGD:5509900, RGD:9685710 NCBI chr 1:192,007,011...192,020,887
Ensembl chr 1:182,576,545...182,590,414 		JBrowse link
G Gdnf glial cell derived neurotrophic factor ISO mRNA:increased expression:skeletal muscle RGD PMID:10447463 RGD:6218978 NCBI chr 2:58,621,327...58,647,242
Ensembl chr 2:56,895,010...56,917,209 		JBrowse link
G Gfap glial fibrillary acidic protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:11723166 NCBI chr10:88,352,987...88,361,661
Ensembl chr10:87,852,890...87,861,589 		JBrowse link
G Gjc2 gap junction protein, gamma 2 ISO protein:decreased expression:lumbar spinal cord ventral horn, oligodendrocyte (mouse) RGD PMID:24597481 RGD:13208591 NCBI chr10:44,462,203...44,470,924
Ensembl chr10:43,962,642...43,970,467 		JBrowse link
G Gle1 GLE1 RNA export mediator ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis | ClinVar Annotator: match by term: Charcot disease ClinVar PMID:25741868 PMID:28884921 NCBI chr 3:33,607,160...33,638,879
Ensembl chr 3:13,209,322...13,237,379 		JBrowse link
G Glt8d1 glycosyltransferase 8 domain containing 1 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 NCBI chr16:6,198,152...6,213,671
Ensembl chr16:6,192,300...6,207,229 		JBrowse link
G Got1 glutamic-oxaloacetic transaminase 1 treatment ISO human protein in a rat model RGD PMID:26113413 RGD:13506239 NCBI chr 1:252,306,541...252,337,622
Ensembl chr 1:242,357,306...242,380,633 		JBrowse link
G Grn granulin precursor disease_progression
onset		 ISO protein:increased expression:spinal cord, microglia
DNA:mutations: :		 RGD PMID:21107132 PMID:18184915 PMID:21107132 RGD:5509593, RGD:5509619, RGD:5509593 NCBI chr10:87,887,834...87,893,938
Ensembl chr10:87,387,638...87,393,775 		JBrowse link
G Gsk3a glycogen synthase kinase 3 alpha ISO RGD PMID:12675919 RGD:2301741 NCBI chr 1:89,943,669...89,953,514
Ensembl chr 1:80,815,850...80,825,802 		JBrowse link
G Gsk3b glycogen synthase kinase 3 beta ISO RGD PMID:12675919 RGD:2301741 NCBI chr11:76,004,502...76,154,665
Ensembl chr11:62,504,316...62,648,646 		JBrowse link
G Gsr glutathione-disulfide reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16681429 NCBI chr16:65,185,574...65,228,742
Ensembl chr16:58,482,505...58,525,661 		JBrowse link
G Gstp1 glutathione S-transferase pi 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16109392 NCBI chr 1:210,767,237...210,770,242
Ensembl chr 1:201,321,672...201,340,226 		JBrowse link
G Hdac4 histone deacetylase 4 severity ISO RGD PMID:23824486 RGD:9681450 NCBI chr 9:99,950,972...100,200,994
Ensembl chr 9:92,507,611...92,750,164 		JBrowse link
G Hes1 hes family bHLH transcription factor 1 ISO protein:increased expression:spinal chord RGD PMID:26067594 RGD:13524575 NCBI chr11:84,210,632...84,213,045
Ensembl chr11:70,705,764...70,708,192 		JBrowse link
G Hey1 hes-related family bHLH transcription factor with YRPW motif 1 ISO protein:increased expression:spinal chord RGD PMID:26067594 RGD:13524575 NCBI chr 2:95,003,935...95,006,457
Ensembl chr 2:93,095,498...93,100,312 		JBrowse link
G Hmgb1 high mobility group box 1 severity ISO RGD PMID:23639787 RGD:10402056 NCBI chr12:11,009,236...11,015,941
Ensembl chr12:5,901,586...5,978,565
Ensembl chr16:5,901,586...5,978,565 		JBrowse link
G Hnrnpk heterogeneous nuclear ribonucleoprotein K ISO protein:decreased expression:lumbar spinal cord ventral horn, astrocyte (mouse) RGD PMID:19323997 RGD:10058964 NCBI chr17:6,269,302...6,280,429
Ensembl chr17:6,262,998...6,274,997 		JBrowse link
G Hrk harakiri, BCL2 interacting protein ISO RGD PMID:29440992 RGD:13506949 NCBI chr12:44,048,402...44,070,561 JBrowse link
G Igf1r insulin-like growth factor 1 receptor onset IEP mRNA:decreased expression:spinal cord (rat) RGD PMID:18683239 RGD:12904708 NCBI chr 1:130,959,787...131,248,664
Ensembl chr 1:121,550,743...121,831,777 		JBrowse link
G Igf2r insulin-like growth factor 2 receptor IEP protein:increased expression:spinal cord, astrocyte RGD PMID:18441505 RGD:2311519 NCBI chr 1:50,526,878...50,615,265
Ensembl chr 1:47,979,109...48,067,501 		JBrowse link
G Itih4 inter-alpha-trypsin inhibitor heavy chain 4 disease_progression IEP
ISO		 protein:increased expression, increased processing:serum
protein:increased processing:serum		 RGD PMID:23436019 PMID:23436019 RGD:40907060, RGD:40907060 NCBI chr16:6,086,985...6,102,162
Ensembl chr16:6,080,539...6,095,708 		JBrowse link
G Itpr2 inositol 1,4,5-trisphosphate receptor, type 2 susceptibility ISO DNA:snp:intron:g.26636386A>G rs2306677 (human) RGD PMID:17827064 RGD:6482791 NCBI chr 4:180,759,325...181,165,361
Ensembl chr 4:179,027,281...179,404,164 		JBrowse link
G Jag1 jagged canonical Notch ligand 1 ISO protein:increased expression:spinal chord RGD PMID:26067594 RGD:13524575 NCBI chr 3:144,859,453...144,894,883
Ensembl chr 3:124,406,794...124,442,209 		JBrowse link
G Kank1 KN motif and ankyrin repeat domains 1 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:232,381,720...232,500,834
Ensembl chr 1:222,877,622...223,074,514 		JBrowse link
G Kcnj10 potassium inwardly-rectifying channel, subfamily J, member 10 IEP protein:decreased expression:brainstem RGD PMID:22987392 RGD:8662893 NCBI chr13:87,334,510...87,367,747
Ensembl chr13:84,802,009...84,835,461 		JBrowse link
G Kdr kinase insert domain receptor ISO protein:decreased expression:spinal cord RGD PMID:16410746 RGD:1580568 NCBI chr14:32,572,031...32,615,204
Ensembl chr14:32,217,871...32,261,018 		JBrowse link
G Keap1 Kelch-like ECH-associated protein 1 ISO mRNA:increased expression:primary motor cortex (human) RGD PMID:18957896 RGD:6893397 NCBI chr 8:28,044,555...28,054,042
Ensembl chr 8:19,768,375...19,777,862 		JBrowse link
G Kif1b kinesin family member 1B onset IEP
ISO		 mRNA:decreased expression:precentral gyrus (human)
mRNA:increased expression, decreased expression:spinal cord, sciatic nerve (mouse)		 RGD PMID:17418584 PMID:24904291 RGD:12738468, RGD:12738469 NCBI chr 5:164,890,778...165,025,848
Ensembl chr 5:159,561,271...159,742,778 		JBrowse link
G Kif5a kinesin family member 5A ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis | ClinVar Annotator: match by term: Charcot disease ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:31108397 NCBI chr 7:64,937,210...64,974,339
Ensembl chr 7:63,049,424...63,092,858 		JBrowse link
G Lcn2 lipocalin 2 IEP protein:increased expression:spinal cord RGD PMID:23431168 RGD:126781758 NCBI chr 3:36,078,432...36,081,851
Ensembl chr 3:15,680,687...15,684,095 		JBrowse link
G Lrrk2 leucine-rich repeat kinase 2 ISO mRNA:increased expression:skeletal muscle RGD PMID:21375368 RGD:5508417 NCBI chr 7:124,706,246...124,867,234
Ensembl chr 7:122,826,696...122,987,703 		JBrowse link
G Maml1 mastermind-like transcriptional coactivator 1 ISO protein:increased expression:spinal chord RGD PMID:26067594 RGD:13524575 NCBI chr10:35,089,715...35,124,100
Ensembl chr10:34,588,646...34,623,338 		JBrowse link
G Map1lc3a microtubule-associated protein 1 light chain 3 alpha ISO mRNA:increased expression:spinal cord RGD PMID:23851366 RGD:11561951 NCBI chr 3:164,243,204...164,244,850
Ensembl chr 3:143,783,024...143,784,670 		JBrowse link
G Map3k5 mitogen-activated protein kinase kinase kinase 5 ISO protein:hyperphosphorylation:motor neuron: RGD PMID:15910777 RGD:10412312 NCBI chr 1:16,505,387...16,723,899
Ensembl chr 1:14,685,492...14,904,800 		JBrowse link
G Mapk14 mitogen activated protein kinase 14 ISO protein:hyperphosphorylation:motor neuron: RGD PMID:15910777 RGD:10412312 NCBI chr20:6,751,288...6,812,294
Ensembl chr20:6,749,670...6,810,589 		JBrowse link
G Matr3 matrin 3 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 PMID:28492532 NCBI chr18:27,428,190...27,474,421
Ensembl chr18:27,163,714...27,193,166 		JBrowse link
G Mfn1 mitofusin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22975021 NCBI chr 2:117,240,525...117,288,017
Ensembl chr 2:115,313,401...115,359,640 		JBrowse link
G Mfn2 mitofusin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22975021 NCBI chr 5:163,587,463...163,617,363
Ensembl chr 5:158,304,287...158,335,342 		JBrowse link
G Mir206 microRNA 206 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22975021 PMID:27538595 NCBI chr 9:30,590,697...30,590,780
Ensembl chr 9:23,094,249...23,094,332 		JBrowse link
G Mir214 microRNA 214 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27538595 NCBI chr13:77,121,645...77,121,752
Ensembl chr13:74,588,372...74,588,481 		JBrowse link
G Mir23a microRNA 23a ISO CTD Direct Evidence: marker/mechanism CTD PMID:22975021 NCBI chr19:40,859,769...40,859,843
Ensembl chr19:23,954,997...23,955,071 		JBrowse link
G Mir322 microRNA 322 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27538595 NCBI chr  X:137,726,147...137,726,241
Ensembl chr  X:132,806,594...132,806,688 		JBrowse link
G Mir455 microRNA 455 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22975021 NCBI chr 5:81,704,834...81,704,911
Ensembl chr 5:76,689,313...76,689,390 		JBrowse link
G Mmp1 matrix metallopeptidase 1 ISO protein:increased expression:serum (human) RGD PMID:19796283 RGD:7207054 NCBI chr 8:12,943,453...12,963,966
Ensembl chr 8:4,658,588...4,679,097 		JBrowse link
G Mmp2 matrix metallopeptidase 2 severity ISO protein:increased expression:serum, cerebrospinal fluid (human)
protein:increased expression:skin of body, spinal cord		 RGD PMID:19796283 PMID:20441996 RGD:7207054, RGD:13204793 NCBI chr19:30,327,643...30,355,856
Ensembl chr19:14,154,657...14,182,870 		JBrowse link
G Mmp9 matrix metallopeptidase 9 severity ISO protein:increased expression:serum, cerebrospinal fluid (human)
protein:increased expression:skin of body, spinal cord		 RGD PMID:19796283 PMID:20441996 RGD:7207054, RGD:13204793 NCBI chr 3:174,103,474...174,111,434
Ensembl chr 3:153,683,858...153,692,120 		JBrowse link
G Mobp myelin-associated oligodendrocyte basic protein ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis		 CTD
ClinVar		 PMID:25741868 PMID:27455348 NCBI chr 8:128,747,117...128,777,238
Ensembl chr 8:119,869,626...119,899,563 		JBrowse link
G Mstn myostatin IMP RGD PMID:16837207 RGD:2303556 NCBI chr 9:55,944,513...55,950,913
Ensembl chr 9:48,452,533...48,458,933 		JBrowse link
G Mt1 metallothionein 1 ISO mRNA:increased expression:spinal cord (mouse) RGD PMID:16179515 RGD:6484130 NCBI chr19:10,831,959...10,832,975
Ensembl chr19:10,826,032...10,827,049
Ensembl chr17:10,826,032...10,827,049
Ensembl chr  X:10,826,032...10,827,049 		JBrowse link
G Mt2 metallothionein 2 onset ISO mRNA:increased expression:soleus muscle, gastrocnemius muscle (mouse) RGD PMID:18000159 RGD:6482832 NCBI chr19:10,837,934...10,838,708
Ensembl chr19:10,832,002...10,832,784 		JBrowse link
G Mt3 metallothionein 3 ISO RGD PMID:17097207 PMID:12388585 PMID:12417341 RGD:6480495, RGD:6480627, RGD:6480625 NCBI chr19:10,854,676...10,856,080
Ensembl chr19:10,848,755...10,850,158 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility
no_association		 ISO DNA:polymorphism: :c.677C>T(human) RGD PMID:21128869 PMID:21868135 RGD:11565111, RGD:11565173 NCBI chr 5:163,748,346...163,768,141
Ensembl chr 5:158,465,296...158,483,797 		JBrowse link
G Mtnr1a melatonin receptor 1A disease_progression ISO protein:decreased expression:spinal chord RGD PMID:23537713 RGD:13524569 NCBI chr16:53,876,964...53,896,421
Ensembl chr16:47,144,461...47,163,919 		JBrowse link
G Mtrex Mtr4 exosome RNA helicase ISO mRNA:increased expression:peripheral blood lymphocyte (human) RGD PMID:23006766 RGD:11041891 NCBI chr 2:46,233,528...46,293,827
Ensembl chr 2:44,461,444...44,560,627 		JBrowse link
G Nefh neurofilament heavy chain treatment ISO DNA:deletions:cds:multiple (human)
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis | ClinVar Annotator: match by term: Charcot disease		 ClinVar
RGD		 PMID:25741868 PMID:28492532 PMID:36549973 PMID:9931323 PMID:10686419 RGD:1302518, RGD:13525000 NCBI chr14:84,044,428...84,054,413
Ensembl chr14:79,830,362...79,840,351 		JBrowse link
G Nefl neurofilament light chain treatment
severity
disease_progression		 ISO protein:increased expression:serum (human)
protein:increased expression:serum, csf		 RGD PMID:10686419 PMID:30309882 PMID:26273687 RGD:13525000, RGD:127284877, RGD:13525006 NCBI chr15:46,477,330...46,481,203
Ensembl chr15:42,301,916...42,305,793 		JBrowse link
G Nefm neurofilament medium chain IGI RGD PMID:16006557 RGD:9698444 NCBI chr15:46,535,857...46,541,161
Ensembl chr15:42,360,454...42,365,755 		JBrowse link
G Nek1 NIMA-related kinase 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis		 CTD
ClinVar		 PMID:25741868 PMID:26945885 PMID:27455347 NCBI chr16:34,009,092...34,137,418
Ensembl chr16:28,998,231...29,117,723 		JBrowse link
G Nfe2l2 NFE2 like bZIP transcription factor 2 treatment ISO mRNA, protein:decreased expression:primary motor cortex, spinal cord (human)
CTD Direct Evidence: therapeutic		 CTD
RGD		 PMID:27012417 PMID:18957896 PMID:22056419 RGD:6893397, RGD:10412690 NCBI chr 3:81,001,529...81,031,165
Ensembl chr 3:60,594,242...60,621,737 		JBrowse link
G Nos2 nitric oxide synthase 2 ISO protein:increased expression:spinal cord (mouse) RGD PMID:21867702 RGD:5509065 NCBI chr10:64,313,335...64,349,221
Ensembl chr10:63,815,308...63,851,210 		JBrowse link
G Notch1 notch receptor 1 ISO protein:increased expression:spinal chord RGD PMID:26067594 RGD:13524575 NCBI chr 3:29,676,040...29,721,613
Ensembl chr 3:9,278,086...9,323,531 		JBrowse link
G Nrf1 nuclear respiratory factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22975021 NCBI chr 4:59,632,366...59,738,166
Ensembl chr 4:58,664,957...58,825,328 		JBrowse link
G Nrg1 neuregulin 1 ameliorates ISO RGD PMID:32032731 RGD:405295499 NCBI chr16:65,954,084...67,007,484
Ensembl chr16:59,250,854...60,296,884 		JBrowse link
G Optn optineurin ISO protein:increased expression:spinal cord, neuron
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis
CTD Direct Evidence: marker/mechanism
DNA:deletion, missense mutation, nonsense mutation:exon:p.Q398X, p.E478G (human)
DNA:missense mutations, nonsense mutation:cds, intron:multiple		 ClinVar
CTD
RGD		 PMID:9536098 PMID:17576681 PMID:21059646 PMID:25096716 PMID:25741868 More... RGD:6480502, RGD:6480506, RGD:6480504 NCBI chr17:78,118,847...78,169,543
Ensembl chr17:73,209,575...73,260,251 		JBrowse link
G Pfn1 profilin 1 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 PMID:28492532 NCBI chr10:55,863,882...55,866,587
Ensembl chr10:55,365,262...55,527,631 		JBrowse link
G Pgf placental growth factor ISO RGD PMID:22119626 RGD:6483573 NCBI chr 6:110,547,165...110,557,747
Ensembl chr 6:104,816,104...104,826,685 		JBrowse link
G Pla2g4a phospholipase A2 group 4A ISO CTD Direct Evidence: marker/mechanism CTD PMID:15816863 NCBI chr13:64,427,921...64,572,352
Ensembl chr13:61,877,813...62,022,266 		JBrowse link
G Pnpla6 patatin-like phospholipase domain containing 6 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 PMID:28492532 PMID:32579787 NCBI chr12:6,372,284...6,401,632
Ensembl chr12:1,560,363...1,603,734 		JBrowse link
G Pon1 paraoxonase 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis		 CTD
ClinVar		 PMID:25741868 PMID:28070599 NCBI chr 4:34,261,312...34,292,327
Ensembl chr 4:33,294,722...33,321,360 		JBrowse link
G Pon2 paraoxonase 2 ISO DNA:SNP:intron:rs11981433, association with LD block containing both PON3 and PON2 (human) RGD PMID:16822964 RGD:5509925 NCBI chr 4:34,356,270...34,391,684
Ensembl chr 4:33,389,714...33,425,248 		JBrowse link
G Pon3 paraoxonase 3 ISO DNA:SNP:intron:rs10487132, association with LD block containing both PON3 and PON2 (human)
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis		 ClinVar
RGD		 PMID:25741868 PMID:28492532 PMID:16822964 RGD:5509925 NCBI chr 4:34,323,546...34,350,244
Ensembl chr 4:33,349,168...33,383,855 		JBrowse link
G Ppargc1a PPARG coactivator 1 alpha ISO human gene in mouse model
CTD Direct Evidence: marker/mechanism
mRNA:decreased expression:motor cortex, muscle (human)
mRNA:decreased expression:spinal cord, gastrocnemius muscle (mouse)		 CTD
RGD		 PMID:22975021 PMID:22102466 PMID:23147503 PMID:23147503 RGD:6484265, RGD:7242019, RGD:7242019 NCBI chr14:63,073,505...63,729,215
Ensembl chr14:58,861,144...59,512,656 		JBrowse link
G Ppargc1b PPARG coactivator 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:22975021 NCBI chr18:57,029,264...57,131,466
Ensembl chr18:54,758,902...54,861,194 		JBrowse link
G Ppp1r15a protein phosphatase 1, regulatory subunit 15A ISO protein:increased expression:spinal cord, astrocyte, microglia (mouse) RGD PMID:23118353 RGD:9999418 NCBI chr 1:105,136,521...105,139,596
Ensembl chr 1:96,000,058...96,003,171 		JBrowse link
G Prph peripherin ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis, susceptibility to ClinVar PMID:15322088 PMID:15446584 PMID:25741868 PMID:28492532 PMID:32638105 NCBI chr 7:132,096,888...132,101,070
Ensembl chr 7:130,218,357...130,222,136 		JBrowse link
G Psmc4 proteasome 26S subunit, ATPase 4 ISS MouseDO NCBI chr 1:92,476,690...92,485,268
Ensembl chr 1:83,348,592...83,357,494 		JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO protein:increased expression:spinal cord, neuron, glia
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:11220737 PMID:15816863 PMID:14511332 RGD:5688235 NCBI chr13:64,714,063...64,722,320
Ensembl chr13:62,163,932...62,172,188 		JBrowse link
G Ptprz1 protein tyrosine phosphatase, receptor type Z1 treatment IEP RGD PMID:25113670 RGD:9590123 NCBI chr 4:52,363,006...52,560,905
Ensembl chr 4:51,397,601...51,595,218 		JBrowse link
G Rara retinoic acid receptor, alpha IEP RGD PMID:17956549 RGD:2314289 NCBI chr10:84,379,780...84,424,371
Ensembl chr10:83,893,384...83,928,142 		JBrowse link
G RGD1359108 similar to RIKEN cDNA 3110043O21 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25442110 PMID:27713094 PMID:28122516 PMID:28478440 PMID:28973294 NCBI chr 5:54,562,570...54,587,649
Ensembl chr 5:49,766,325...49,791,408 		JBrowse link
G Rnase4 ribonuclease A family member 4 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 NCBI chr15:26,786,287...26,803,634
Ensembl chr15:24,312,464...24,330,117 		JBrowse link
G Runx1 RUNX family transcription factor 1 ISO mRNA:increased expression:skeletal muscle RGD PMID:18000159 RGD:6482832 NCBI chr11:45,325,778...45,560,300
Ensembl chr11:31,843,764...32,074,542 		JBrowse link
G Sarm1 sterile alpha and TIR motif containing 1 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 NCBI chr10:63,867,503...63,890,872
Ensembl chr10:63,369,456...63,392,822 		JBrowse link
G Scfd1 sec1 family domain containing 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis | ClinVar Annotator: match by term: Charcot disease		 CTD
ClinVar		 PMID:25741868 PMID:27455348 NCBI chr 6:74,531,225...74,609,463
Ensembl chr 6:68,795,878...68,874,078 		JBrowse link
G Serpinf1 serpin family F member 1 ISO protein:increased expression:cerebrospinal fluid (human) RGD PMID:12067231 RGD:8554892 NCBI chr10:60,748,504...60,760,898
Ensembl chr10:60,249,708...60,262,646 		JBrowse link
G Setx senataxin ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:18058631 PMID:23129421 PMID:23881933 PMID:25741868 PMID:26467025 More... NCBI chr 3:32,825,771...32,878,740
Ensembl chr 3:12,427,635...12,480,803 		JBrowse link
G Sigmar1 sigma non-opioid intracellular receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24885036 NCBI chr 5:61,700,021...61,702,799
Ensembl chr 5:56,904,159...56,907,017 		JBrowse link
G Sirt1 sirtuin 1 ISO protein:increased expression:spinal cord (mouse) RGD PMID:17581637 RGD:2290573 NCBI chr20:25,305,953...25,328,000
Ensembl chr20:25,306,917...25,329,260 		JBrowse link
G Slc11a2 solute carrier family 11 member 2 onset ISO DNA:SNP: :rs407135 (human) RGD PMID:21276595 RGD:5688710 NCBI chr 7:133,381,878...133,429,921
Ensembl chr 7:131,503,081...131,540,145 		JBrowse link
G Slc1a2 solute carrier family 1 member 2 ISO mRNA:processing errors:spinal cord, motor cortex (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:11723166 PMID:9539131 RGD:1302517 NCBI chr 3:109,460,109...109,590,445
Ensembl chr 3:89,005,129...89,126,498 		JBrowse link
G Slc31a1 solute carrier family 31 member 1 disease_progression ISO protein:increased expression:spinal chord RGD PMID:19656261 RGD:13524567 NCBI chr 5:80,830,574...80,859,810
Ensembl chr 5:75,814,743...75,844,228 		JBrowse link
G Slc6a1 solute carrier family 6 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20132478 NCBI chr 4:149,004,447...149,037,840
Ensembl chr 4:147,466,965...147,482,293 		JBrowse link
G Smarca4 SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28973294 NCBI chr 8:28,438,370...28,535,071
Ensembl chr 8:20,167,717...20,258,975 		JBrowse link
G Sod1 superoxide dismutase 1 treatment ISO human gene in a rat model;DNA:missense mutation:cds:p.G93A (human)
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis | ClinVar Annotator: match by term: Charcot disease
CTD Direct Evidence: marker/mechanism
protein:increased expression:cerebrospinal fluid (human)		 ClinVar
CTD
RGD		 PMID:7647793 PMID:7655469 PMID:7836951 PMID:7887412 PMID:8298637 More... RGD:2312367, RGD:13524551, RGD:8655880 NCBI chr11:42,942,742...42,948,399
Ensembl chr11:29,456,558...29,462,249 		JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8866423 NCBI chr 1:50,043,323...50,050,168
Ensembl chr 1:47,636,528...47,645,189 		JBrowse link
G Spg11 SPG11 vesicle trafficking associated, spatacsin ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis | ClinVar Annotator: match by term: Charcot disease ClinVar PMID:18337587 PMID:19466474 PMID:22696581 PMID:23733235 PMID:24833714 More... NCBI chr 3:129,453,118...129,526,469
Ensembl chr 3:109,008,135...109,072,911 		JBrowse link
G Sptlc1 serine palmitoyltransferase, long chain base subunit 1 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 PMID:28492532 PMID:33879512 PMID:34059824 NCBI chr17:12,029,189...12,068,234
Ensembl chr17:11,877,249...11,916,295 		JBrowse link
G Sqstm1 sequestosome 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis | ClinVar Annotator: match by term: Charcot disease
mRNA:increased expression:spinal cord		 CTD
ClinVar
RGD		 PMID:11473345 PMID:11992264 PMID:15125799 PMID:15176995 PMID:15493999 More... RGD:11561951 NCBI chr10:35,026,598...35,037,750
Ensembl chr10:34,525,519...34,536,673 		JBrowse link
G Ss18l1 SS18L1 subunit of BAF chromatin remodeling complex ISO ClinVar Annotator: match by term: Charcot disease
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:25741868 PMID:28973294 NCBI chr 3:187,521,616...187,542,873
Ensembl chr 3:167,143,994...167,165,253 		JBrowse link
G Steap2 STEAP2 metalloreductase disease_progression ISO protein:increased expression:spinal chord RGD PMID:19656261 RGD:13524567 NCBI chr 4:29,302,487...29,323,006
Ensembl chr 4:28,348,362...28,375,791 		JBrowse link
G Stmn2 stathmin 2 ISS MouseDO NCBI chr 2:95,112,017...95,159,642
Ensembl chr 2:93,204,692...93,252,011 		JBrowse link
G Tardbp TAR DNA binding protein disease_progression ISO CTD Direct Evidence: marker/mechanism
DNA:missense mutations:cds:
DNA:mutation:cds:p.G295S(human)
protein:increased phosphorylation:brain
DNA:mutation:cds:p.M337V(human)		 CTD
RGD		 PMID:18372902 PMID:21167262 PMID:22879928 PMID:23104007 PMID:23891805 More... RGD:5687134, RGD:5687192, RGD:5687173, RGD:5687158, RGD:5687157, RGD:5687137 NCBI chr 5:164,330,452...164,348,435
Ensembl chr 5:159,051,799...159,062,055 		JBrowse link
G Tbk1 TANK-binding kinase 1 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis | ClinVar Annotator: match by term: Charcot disease ClinVar PMID:16199547 PMID:25741868 PMID:25803835 PMID:26476236 PMID:26581300 More... NCBI chr 7:58,963,319...58,996,357
Ensembl chr 7:57,077,830...57,110,892 		JBrowse link
G Tfam transcription factor A, mitochondrial severity ISO RGD PMID:22354563 RGD:6767572 NCBI chr20:17,355,373...17,367,422
Ensembl chr20:17,356,197...17,368,292 		JBrowse link
G Tnf tumor necrosis factor ISO protein:increased expression:spinal cord RGD PMID:13678668 RGD:12904653 NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,622,011...3,624,629 		JBrowse link
G Tnfrsf21 TNF receptor superfamily member 21 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24113175 NCBI chr 9:25,376,400...25,451,323
Ensembl chr 9:17,879,156...17,954,085 		JBrowse link
G Tnip1 TNFAIP3 interacting protein 1 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 NCBI chr10:39,537,759...39,585,038
Ensembl chr10:39,037,058...39,077,625 		JBrowse link
G Tp53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17434459 NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,300,048...54,311,524 		JBrowse link
G Trpm7 transient receptor potential cation channel, subfamily M, member 7 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis-parkinsonism/dementia complex 1, susceptibility to ClinVar PMID:16051700 PMID:19405049 PMID:25741868 NCBI chr 3:134,499,617...134,588,113
Ensembl chr 3:114,046,258...114,135,190 		JBrowse link
G Tuba4a tubulin, alpha 4A ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis		 CTD
ClinVar		 PMID:25741868 PMID:28478440 NCBI chr 9:84,158,871...84,174,041
Ensembl chr 9:76,709,614...76,713,918 		JBrowse link
G Txnrd1 thioredoxin reductase 1 susceptibility ISO DNA:SNPs:intron:rs6539137, rs4630362 (human) RGD PMID:18996185 RGD:5685032 NCBI chr 7:22,717,620...22,802,553
Ensembl chr 7:20,830,045...20,907,863 		JBrowse link
G Ubb ubiquitin B ISO CTD Direct Evidence: marker/mechanism CTD PMID:22994484 NCBI chr10:47,746,923...47,748,628
Ensembl chr10:47,245,637...47,249,333 		JBrowse link
G Ubqln2 ubiquilin 2 ISO ClinVar Annotator: match by term: Lou Gehrig disease ClinVar
RGD		 PMID:21857683 PMID:25333069 PMID:25616961 PMID:25741868 PMID:26075709 More... RGD:5147832 NCBI chr  X:21,228,809...21,232,228
Ensembl chr  X:17,853,114...17,856,505 		JBrowse link
G Unc13a unc-13 homolog A no_association ISO DNA:SNP:intron:rs12608932 (human)
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis | ClinVar Annotator: match by term: Charcot disease
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:19734901 PMID:25741868 PMID:27790088 PMID:20385924 PMID:19734901 RGD:5686382, RGD:5686384 NCBI chr16:18,367,891...18,415,808
Ensembl chr16:18,336,229...18,381,872 		JBrowse link
G Vapb VAMP associated protein B and C ISO DNA:missense mutation:cds:p.P56S (human) RGD PMID:15372378 RGD:5688230 NCBI chr 3:182,954,247...182,997,018
Ensembl chr 3:162,535,905...162,573,763 		JBrowse link
G Vcp valosin-containing protein ISO ClinVar Annotator: match by term: Charcot disease ClinVar PMID:15034582 PMID:18845250 PMID:20604808 PMID:22270372 PMID:22909335 More... NCBI chr 5:62,005,984...62,025,387
Ensembl chr 5:57,210,168...57,229,571 		JBrowse link
G Vdr vitamin D receptor susceptibility ISO DNA:SNP:intron:rs7975232(human) RGD PMID:26190642 RGD:11560790 NCBI chr 7:130,864,764...130,916,757
Ensembl chr 7:128,987,981...129,037,677 		JBrowse link
G Vegfa vascular endothelial growth factor A ISO RGD PMID:16410746 RGD:1580568 NCBI chr 9:22,452,854...22,468,194
Ensembl chr 9:14,955,300...14,970,641 		JBrowse link
G Zfp106 zinc finger protein 106 ISS MouseDO NCBI chr 3:127,912,981...127,964,254
Ensembl chr 3:107,462,096...107,510,481 		JBrowse link
amyotrophic lateral sclerosis type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp5po ATP synthase peripheral stalk subunit OSCP ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:44,651,171...44,657,483
Ensembl chr11:31,165,217...31,171,592 		JBrowse link
G Bcl2l1 Bcl2-like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 3:161,713,777...161,764,844
Ensembl chr 3:141,253,523...141,303,479
Ensembl chr 1:141,253,523...141,303,479 		JBrowse link
G Bsg basigin ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 7:10,643,788...10,651,005
Ensembl chr 7:9,993,170...10,000,387 		JBrowse link
G Calb2 calbindin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr19:55,023,849...55,050,858
Ensembl chr19:38,114,424...38,141,438 		JBrowse link
G Casp1 caspase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 8:10,746,338...10,882,295
Ensembl chr 8:2,587,831...2,597,383 		JBrowse link
G Cbr1 carbonyl reductase 1 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:46,346,405...46,348,815
Ensembl chr11:32,908,950...32,911,393
Ensembl chr11:32,908,950...32,911,393
Ensembl chr11:32,908,950...32,911,393 		JBrowse link
G Cbr3 carbonyl reductase 3 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:46,478,295...46,486,555
Ensembl chr11:33,008,615...33,016,875 		JBrowse link
G Cd68 Cd68 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr10:54,880,562...54,882,441
Ensembl chr10:54,381,815...54,383,697 		JBrowse link
G Cd7 Cd7 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr10:106,802,373...106,805,269
Ensembl chr10:106,304,056...106,306,967 		JBrowse link
G Cfap298 cilia and flagella associated protein 298 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:43,667,996...43,678,049
Ensembl chr11:30,181,905...30,191,346 		JBrowse link
G Chaf1b chromatin assembly factor 1 subunit B ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:46,670,560...46,690,739
Ensembl chr11:33,200,981...33,221,070 		JBrowse link
G Cldn14 claudin 14 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:46,701,940...46,799,049
Ensembl chr11:33,232,220...33,329,171 		JBrowse link
G Clic6 chloride intracellular channel 6 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:45,223,715...45,266,261
Ensembl chr11:31,737,813...31,780,061 		JBrowse link
G Clu clusterin ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr15:44,336,619...44,375,861
Ensembl chr15:40,174,617...40,200,315 		JBrowse link
G Cntf ciliary neurotrophic factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:11951178 NCBI chr 1:219,312,512...219,314,535
Ensembl chr 1:209,887,854...209,889,877 		JBrowse link
G Crebbp CREB binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr10:11,842,307...11,968,266
Ensembl chr10:11,335,953...11,461,888 		JBrowse link
G Cryzl1 crystallin zeta like 1 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:44,419,099...44,464,366
Ensembl chr11:30,933,144...30,977,867 		JBrowse link
G Cst3 cystatin C ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 3:156,790,061...156,794,116
Ensembl chr 3:136,336,920...136,340,822 		JBrowse link
G Ctsd cathepsin D ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 1:206,956,945...206,968,821
Ensembl chr 1:197,527,467...197,539,488 		JBrowse link
G Dbx1 developing brain homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 1:108,484,846...108,490,381
Ensembl chr 1:99,349,608...99,354,038 		JBrowse link
G Dctn1 dynactin subunit 1 ISO ClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS 1, FAMILIAL | ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1
ClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS 1, FAMILIAL | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 PMID:9536098 PMID:12062019 PMID:12627231 PMID:15326253 PMID:16199547 More... NCBI chr 4:117,228,722...117,261,528
Ensembl chr 4:115,661,638...115,703,815 		JBrowse link
G Dnajc28 DnaJ heat shock protein family (Hsp40) member C28 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:44,341,528...44,344,348
Ensembl chr11:30,853,526...30,858,441 		JBrowse link
G Donson DNA replication fork stabilization factor DONSON ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:44,405,794...44,419,099
Ensembl chr11:30,923,239...30,932,889 		JBrowse link
G Dop1b DOP1 leucine zipper like protein B ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:46,494,058...46,595,601
Ensembl chr11:33,024,411...33,125,931 		JBrowse link
G Dyrk1a dual specificity tyrosine phosphorylation regulated kinase 1A ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:47,360,824...47,479,033
Ensembl chr11:33,890,490...34,009,420 		JBrowse link
G Epcip exosomal polycystin 1 interacting protein ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:43,793,924...43,811,388
Ensembl chr11:30,310,350...30,325,439 		JBrowse link
G Eva1c eva-1 homolog C ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:43,575,613...43,649,677
Ensembl chr11:30,089,365...30,163,596 		JBrowse link
G Fancg FA complementation group G ISO ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant ClinVar PMID:11438206 PMID:16643430 PMID:24728327 PMID:25741868 PMID:26740942 More... NCBI chr 5:62,027,494...62,037,202
Ensembl chr 5:57,231,685...57,240,029 		JBrowse link
G Fgf6 fibroblast growth factor 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 4:161,541,089...161,549,624
Ensembl chr 4:159,854,913...159,863,447 		JBrowse link
G Fig4 FIG4 phosphoinositide 5-phosphatase ISO ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant ClinVar NCBI chr20:46,183,225...46,306,686
Ensembl chr20:44,600,603...44,723,844 		JBrowse link
G Fmo1 flavin containing dimethylaniline monoxygenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17127561 NCBI chr13:77,715,405...77,747,666
Ensembl chr13:75,182,176...75,214,647 		JBrowse link
G Folh1 folate hydrolase 1 treatment ISO RGD PMID:12876198 RGD:737756 NCBI chr 1:149,828,286...149,914,313
Ensembl chr 1:140,428,101...140,501,379 		JBrowse link
G Fos Fos proto-oncogene, AP-1 transcription factor subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 6:110,852,188...110,855,054
Ensembl chr 6:105,121,170...105,124,036 		JBrowse link
G Fus Fus RNA binding protein ISO ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant ClinVar PMID:28492532 NCBI chr 1:192,007,011...192,020,887
Ensembl chr 1:182,576,545...182,590,414 		JBrowse link
G Gabra1 gamma-aminobutyric acid type A receptor subunit alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr10:27,096,731...27,152,563
Ensembl chr10:26,595,160...26,650,864 		JBrowse link
G Gart phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:44,351,841...44,377,086
Ensembl chr11:30,865,889...30,891,125 		JBrowse link
G Gbx2 gastrulation brain homeobox 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 9:97,957,304...97,959,883
Ensembl chr 9:90,509,633...90,512,212 		JBrowse link
G Gdi1 GDP dissociation inhibitor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr  X:157,238,900...157,245,562
Ensembl chr  X:152,087,444...152,094,272 		JBrowse link
G Gfap glial fibrillary acidic protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr10:88,352,987...88,361,661
Ensembl chr10:87,852,890...87,861,589 		JBrowse link
G Gria3 glutamate ionotropic receptor AMPA type subunit 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15264227 NCBI chr  X:125,103,975...125,369,690
Ensembl chr  X:120,238,534...120,504,096 		JBrowse link
G Gsx2 GS homeobox 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr14:33,477,968...33,480,320
Ensembl chr14:33,124,381...33,126,105 		JBrowse link
G Hlcs holocarboxylase synthetase ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:46,925,491...47,123,111
Ensembl chr11:33,455,809...33,624,222 		JBrowse link
G Hsf1 heat shock transcription factor 1 ISO CTD Direct Evidence: therapeutic CTD PMID:24256636 NCBI chr 7:110,076,710...110,103,665
Ensembl chr 7:108,196,056...108,223,011 		JBrowse link
G Hunk hormonally upregulated Neu-associated kinase ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:43,127,244...43,244,502
Ensembl chr11:29,640,775...29,757,526 		JBrowse link
G Ifnar1 interferon alpha and beta receptor subunit 1 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:44,211,769...44,238,206
Ensembl chr11:30,725,790...30,749,979 		JBrowse link
G Ifnar2 interferon alpha and beta receptor subunit 2 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:44,099,574...44,131,941
Ensembl chr11:30,613,767...30,668,124 		JBrowse link
G Ifngr2 interferon gamma receptor 2 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:44,265,703...44,283,975
Ensembl chr11:30,779,733...30,798,005 		JBrowse link
G Il10rb interleukin 10 receptor subunit beta ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:44,132,471...44,154,062
Ensembl chr11:30,652,096...30,668,074 		JBrowse link
G Ina internexin neuronal intermediate filament protein, alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 1:255,838,129...255,849,680
Ensembl chr 1:245,896,775...245,908,330 		JBrowse link
G Itsn1 intersectin 1 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:44,464,515...44,646,598
Ensembl chr11:30,978,590...31,160,645 		JBrowse link
G Jak3 Janus kinase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr16:18,418,807...18,432,515
Ensembl chr16:18,386,405...18,398,536 		JBrowse link
G Jund JunD proto-oncogene, AP-1 transcription factor subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr16:18,768,093...18,769,771
Ensembl chr16:18,734,122...18,735,799 		JBrowse link
G Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:45,066,875...45,080,024
Ensembl chr11:31,580,742...31,593,901 		JBrowse link
G Kcne2 potassium voltage-gated channel subfamily E regulatory subunit 2 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:45,003,468...45,015,942
Ensembl chr11:31,295,614...31,530,043 		JBrowse link
G Kcnj6 potassium inwardly-rectifying channel, subfamily J, member 6 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:47,531,312...47,778,348
Ensembl chr11:34,061,708...34,308,758 		JBrowse link
G Kif3c kinesin family member 3C ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 6:32,086,879...32,125,812
Ensembl chr 6:26,366,531...26,406,130 		JBrowse link
G Kif5a kinesin family member 5A ISO mRNA:increased expression:frontal cortex, cerebellum, spinal cord (mouse) RGD PMID:23006449 RGD:12798528 NCBI chr 7:64,937,210...64,974,339
Ensembl chr 7:63,049,424...63,092,858 		JBrowse link
G Kif5c kinesin family member 5C ISO mRNA:increased expression:frontal cortex, cerebellum (mouse) RGD PMID:23006449 RGD:12798528 NCBI chr 3:54,441,266...54,591,630
Ensembl chr 3:34,032,105...34,182,413 		JBrowse link
G Lat linker for activation of T cells ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 1:190,367,111...190,372,515
Ensembl chr 1:180,936,534...180,941,578 		JBrowse link
G Ldlr low density lipoprotein receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 8:28,546,191...28,569,075
Ensembl chr 8:20,270,041...20,294,580 		JBrowse link
G Masp2 MBL associated serine protease 2 ISO ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 5:164,319,017...164,332,686
Ensembl chr 5:159,035,911...159,049,580 		JBrowse link
G Mis18a MIS18 kinetochore protein A ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:43,454,129...43,467,157
Ensembl chr11:29,967,701...29,981,062 		JBrowse link
G Morc3 MORC family CW-type zinc finger 3 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:46,621,575...46,664,315
Ensembl chr11:33,152,025...33,194,646 		JBrowse link
G Mrap melanocortin 2 receptor accessory protein ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:43,477,382...43,489,118
Ensembl chr11:29,992,034...30,003,024 		JBrowse link
G Mrps6 mitochondrial ribosomal protein S6 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:44,778,667...44,834,420
Ensembl chr11:31,295,614...31,348,484 		JBrowse link
G Mt1 metallothionein 1 ISO CTD Direct Evidence: therapeutic CTD PMID:24163136 NCBI chr19:10,831,959...10,832,975
Ensembl chr19:10,826,032...10,827,049
Ensembl chr17:10,826,032...10,827,049
Ensembl chr  X:10,826,032...10,827,049 		JBrowse link
G Nefh neurofilament heavy chain susceptibility ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 | ClinVar Annotator: match by term: NEFH-related condition		 CTD
OMIM
ClinVar		 PMID:7849698 PMID:25741868 PMID:28430856 PMID:28492532 PMID:28749476 More... NCBI chr14:84,044,428...84,054,413
Ensembl chr14:79,830,362...79,840,351 		JBrowse link
G Olig1 oligodendrocyte transcription factor 1 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:44,000,450...44,002,592
Ensembl chr11:30,514,379...30,516,521 		JBrowse link
G Olig2 oligodendrocyte transcription factor 2 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:43,961,585...43,964,961
Ensembl chr11:30,475,398...30,480,152 		JBrowse link
G Otog otogelin ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 1:105,882,747...105,951,825
Ensembl chr 1:96,746,336...96,815,415 		JBrowse link
G Paxbp1 PAX3 and PAX7 binding protein 1 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:43,758,116...43,787,624
Ensembl chr11:30,272,037...30,301,648 		JBrowse link
G Pdgfa platelet derived growth factor subunit A ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr12:20,759,366...20,780,337
Ensembl chr12:15,645,541...15,666,497 		JBrowse link
G Penk proenkephalin ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 5:21,981,381...21,987,074
Ensembl chr 5:17,183,806...17,189,129 		JBrowse link
G Pigp phosphatidylinositol glycan anchor biosynthesis, class P ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:47,152,601...47,158,766
Ensembl chr11:33,682,948...33,689,321 		JBrowse link
G Pon1 paraoxonase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17204329 NCBI chr 4:34,261,312...34,292,327
Ensembl chr 4:33,294,722...33,321,360 		JBrowse link
G Prph peripherin susceptibility ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 | ClinVar Annotator: match by term: PRPH-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:15446584 PMID:25741868 PMID:28492532 PMID:32638105 NCBI chr 7:132,096,888...132,101,070
Ensembl chr 7:130,218,357...130,222,136 		JBrowse link
G Rcan1 regulator of calcineurin 1 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:45,108,123...45,188,065
Ensembl chr11:31,622,210...31,702,045 		JBrowse link
G Ripply3 ripply transcriptional repressor 3 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:47,118,147...47,126,244
Ensembl chr11:33,648,486...33,656,584 		JBrowse link
G Runx1 RUNX family transcription factor 1 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:45,325,778...45,560,300
Ensembl chr11:31,843,764...32,074,542 		JBrowse link
G Rxra retinoid X receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 3:31,387,892...31,474,415
Ensembl chr 3:10,989,832...11,073,712 		JBrowse link
G Scaf4 SR-related CTD-associated factor 4 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:9455977 PMID:9506558 PMID:16435343 PMID:17237124 PMID:19635794 More... NCBI chr11:42,951,254...43,007,293
Ensembl chr11:29,465,106...29,521,153 		JBrowse link
G Selplg selectin P ligand ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr12:48,457,102...48,470,444
Ensembl chr12:42,796,580...42,812,585 		JBrowse link
G Serpina3n serpin family A member 3N ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 6:129,088,392...129,095,950
Ensembl chr 6:123,323,629...123,332,433 		JBrowse link
G Setd4 SET domain containing 4 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:46,315,340...46,344,024
Ensembl chr11:32,838,063...32,858,243 		JBrowse link
G Setx senataxin ISO ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant ClinVar PMID:23757202 PMID:25741868 PMID:28492532 NCBI chr 3:32,825,771...32,878,740
Ensembl chr 3:12,427,635...12,480,803 		JBrowse link
G Shc1 SHC adaptor protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 2:177,135,649...177,147,257
Ensembl chr 2:174,837,930...174,849,536 		JBrowse link
G Sim2 SIM bHLH transcription factor 2 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:46,883,859...46,923,305
Ensembl chr11:33,414,218...33,453,663 		JBrowse link
G Six2 SIX homeobox 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 6:14,727,756...14,734,219
Ensembl chr 6:8,967,157...8,981,193 		JBrowse link
G Slc5a3 solute carrier family 5 member 3 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:44,799,787...44,802,233
Ensembl chr11:31,295,476...31,318,883 		JBrowse link
G Smim11 small integral membrane protein 11 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:45,019,269...45,028,926
Ensembl chr11:31,532,764...31,543,002 		JBrowse link
G Snai1 snail family transcriptional repressor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 3:176,667,476...176,671,965
Ensembl chr 3:156,248,485...156,252,969 		JBrowse link
G Sncg synuclein, gamma ISS OMIM:105400 MouseDO NCBI chr16:9,706,765...9,712,072
Ensembl chr16:9,700,514...9,705,368 		JBrowse link
G Sod1 superoxide dismutase 1 ISO
ISS		 ClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS 1, FAMILIAL | ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 1, autosomal recessive | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1
ClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS 1, FAMILIAL | ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 1, autosomal recessive | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 | ClinVar Annotator: match by term: NEFH-related condition
OMIM:105400
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:p.D90A (human)
DNA:missense mutations:cds:multiple (human)
DNA:missense mutation:cds:p.I113T (human)		 OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:1248932 PMID:1259395 PMID:1463506 PMID:2020294 PMID:2517465 More... RGD:8655873, RGD:8655862, RGD:8655618, RGD:737689 NCBI chr11:42,942,742...42,948,399
Ensembl chr11:29,456,558...29,462,249 		JBrowse link
G Sod2 superoxide dismutase 2 ISS OMIM:105400 MouseDO NCBI chr 1:50,043,323...50,050,168
Ensembl chr 1:47,636,528...47,645,189 		JBrowse link
G Son SON DNA and RNA binding protein ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:44,336,818...44,409,127
Ensembl chr11:30,892,005...30,923,167 		JBrowse link
G Synj1 synaptojanin 1 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:43,678,709...43,755,526
Ensembl chr11:30,192,629...30,269,220 		JBrowse link
G Tardbp TAR DNA binding protein ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant		 CTD
ClinVar		 PMID:19411082 PMID:20082726 PMID:20675015 PMID:20708823 PMID:22575358 More... NCBI chr 5:164,330,452...164,348,435
Ensembl chr 5:159,051,799...159,062,055 		JBrowse link
G Tiam1 TIAM Rac1 associated GEF 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1		 CTD
ClinVar		 PMID:11796754 PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:42,517,527...42,866,280
Ensembl chr11:29,031,348...29,159,901 		JBrowse link
G Tle3 TLE family member 3, transcriptional corepressor ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 8:70,753,182...70,799,080
Ensembl chr 8:61,858,200...61,903,493 		JBrowse link
G Tmem50b transmembrane protein 50B ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:44,290,805...44,323,650
Ensembl chr11:30,804,837...30,837,661 		JBrowse link
G Tmsb4x thymosin beta 4, X-linked ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr  X:30,761,611...30,763,612
Ensembl chr  X:27,128,610...27,146,667
Ensembl chr10:27,128,610...27,146,667 		JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,622,011...3,624,629 		JBrowse link
G Ttc3 tetratricopeptide repeat domain 3 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:47,158,766...47,258,612
Ensembl chr11:33,688,952...33,788,975 		JBrowse link
G Ubqln2 ubiquilin 2 ISO ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:19377476 PMID:22560112 PMID:23138764 PMID:25741868 PMID:26467025 More... NCBI chr  X:21,228,809...21,232,228
Ensembl chr  X:17,853,114...17,856,505 		JBrowse link
G Unc13a unc-13 homolog A ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:25741868 NCBI chr16:18,367,891...18,415,808
Ensembl chr16:18,336,229...18,381,872 		JBrowse link
G Urb1 URB1 ribosome biogenesis homolog ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:43,490,633...43,551,398
Ensembl chr11:30,004,539...30,065,363 		JBrowse link
G Vapb VAMP associated protein B and C ISO ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant ClinVar NCBI chr 3:182,954,247...182,997,018
Ensembl chr 3:162,535,905...162,573,763 		JBrowse link
G Vcp valosin-containing protein ISO ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant ClinVar PMID:11438206 PMID:16643430 PMID:24728327 PMID:25741868 PMID:26740942 More... NCBI chr 5:62,005,984...62,025,387
Ensembl chr 5:57,210,168...57,229,571 		JBrowse link
G Vegfa vascular endothelial growth factor A ISS OMIM:105400 MouseDO NCBI chr 9:22,452,854...22,468,194
Ensembl chr 9:14,955,300...14,970,641 		JBrowse link
G Vim vimentin ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr17:81,577,261...81,585,746
Ensembl chr17:76,668,647...76,677,187 		JBrowse link
G Vps26c VPS26 endosomal protein sorting factor C ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:47,283,764...47,311,105
Ensembl chr11:33,792,389...33,841,447 		JBrowse link
G Vps54 VPS54 subunit of GARP complex ISS OMIM:105400 MouseDO NCBI chr14:99,580,120...99,657,178
Ensembl chr14:95,378,012...95,455,857 		JBrowse link
G Wnt7a Wnt family member 7A ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 4:125,420,276...125,466,149
Ensembl chr 4:123,863,108...123,908,981 		JBrowse link
G Xiap X-linked inhibitor of apoptosis ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr  X:125,756,107...125,803,979
Ensembl chr  X:120,897,907...120,934,700 		JBrowse link
amyotrophic lateral sclerosis type 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ang angiogenin ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 10 ClinVar PMID:17703939 PMID:18087731 PMID:22190368 PMID:25741868 PMID:28492532 NCBI chr15:26,786,233...26,796,883 JBrowse link
G Erbb4 erb-b2 receptor tyrosine kinase 4 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 10 ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:76,973,386...78,045,633
Ensembl chr 9:69,531,481...70,596,595 		JBrowse link
G Grn granulin precursor ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 10 ClinVar PMID:16862116 PMID:16950801 PMID:17698705 PMID:22608501 PMID:25741868 More... NCBI chr10:87,887,834...87,893,938
Ensembl chr10:87,387,638...87,393,775 		JBrowse link
G Masp2 MBL associated serine protease 2 ISO ClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS 10 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA | ClinVar Annotator: match by term: FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED ClinVar PMID:19224587 PMID:19236453 PMID:19864664 PMID:20301761 PMID:20959352 More... NCBI chr 5:164,319,017...164,332,686
Ensembl chr 5:159,035,911...159,049,580 		JBrowse link
G Optn optineurin ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 10 ClinVar PMID:20428114 PMID:21802176 PMID:21852022 PMID:25741868 PMID:26203661 More... NCBI chr17:78,118,847...78,169,543
Ensembl chr17:73,209,575...73,260,251 		JBrowse link
G Prph peripherin ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 10 ClinVar PMID:25741868 NCBI chr 7:132,096,888...132,101,070
Ensembl chr 7:130,218,357...130,222,136 		JBrowse link
G Rnase4 ribonuclease A family member 4 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 10 ClinVar PMID:17703939 PMID:18087731 PMID:22190368 PMID:25741868 PMID:28492532 NCBI chr15:26,786,287...26,803,634
Ensembl chr15:24,312,464...24,330,117 		JBrowse link
G Sod1 superoxide dismutase 1 ISO ClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS 10 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA ClinVar PMID:7891072 PMID:8351519 PMID:8446170 PMID:9008494 PMID:9029070 More... NCBI chr11:42,942,742...42,948,399
Ensembl chr11:29,456,558...29,462,249 		JBrowse link
G Tardbp TAR DNA binding protein ISO
ISS		 ClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS 10 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 10 | ClinVar Annotator: match by term: FRONTOTEMPORAL DEMENTIA WITH TDP43 INCLUSIONS, TARDBP-RELATED | ClinVar Annotator: match by term: FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED | ClinVar Annotator: match by term: TARDBP-related condition
OMIM:612069
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:18068872 PMID:18288693 PMID:18309045 PMID:18372902 PMID:18396105 More... NCBI chr 5:164,330,452...164,348,435
Ensembl chr 5:159,051,799...159,062,055 		JBrowse link
G Tuba4a tubulin, alpha 4A ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 10 ClinVar PMID:25741868 NCBI chr 9:84,158,871...84,174,041
Ensembl chr 9:76,709,614...76,713,918 		JBrowse link
amyotrophic lateral sclerosis type 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fig4 FIG4 phosphoinositide 5-phosphatase ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 11
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:17572665 PMID:17576681 PMID:18261132 PMID:18556664 More... NCBI chr20:46,183,225...46,306,686
Ensembl chr20:44,600,603...44,723,844 		JBrowse link
amyotrophic lateral sclerosis type 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Optn optineurin ISO ClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS 12 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 12 ClinVar
OMIM		 PMID:9536098 PMID:11834836 PMID:11978762 PMID:12208142 PMID:12789137 More... NCBI chr17:78,118,847...78,169,543
Ensembl chr17:73,209,575...73,260,251 		JBrowse link
amyotrophic lateral sclerosis type 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ubqln2 ubiquilin 2 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 15 OMIM
ClinVar		 PMID:19377476 PMID:21857683 PMID:22560112 PMID:22892309 PMID:23138764 More... NCBI chr  X:21,228,809...21,232,228
Ensembl chr  X:17,853,114...17,856,505 		JBrowse link
amyotrophic lateral sclerosis type 16 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sigmar1 sigma non-opioid intracellular receptor 1 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 16 OMIM
ClinVar		 PMID:21842496 PMID:24088041 PMID:25175561 PMID:25704016 PMID:25741868 More... NCBI chr 5:61,700,021...61,702,799
Ensembl chr 5:56,904,159...56,907,017 		JBrowse link
amyotrophic lateral sclerosis type 18 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pfn1 profilin 1 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 18 | ClinVar Annotator: match by term: PFN1-related condition OMIM
ClinVar		 PMID:22801503 PMID:24309268 PMID:25741868 PMID:26226631 PMID:26908597 More... NCBI chr10:55,863,882...55,866,587
Ensembl chr10:55,365,262...55,527,631 		JBrowse link
amyotrophic lateral sclerosis type 19 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Erbb4 erb-b2 receptor tyrosine kinase 4 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 19 | ClinVar Annotator: match by term: ERBB4-related condition OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:24119685 PMID:25741868 PMID:27640074 More... NCBI chr 9:76,973,386...78,045,633
Ensembl chr 9:69,531,481...70,596,595 		JBrowse link
amyotrophic lateral sclerosis type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Als2 alsin Rho guanine nucleotide exchange factor ALS2 ISO ClinVar Annotator: match by term: ALS2-Related Spectrum Disorders | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 2
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:2328408 PMID:7920663 PMID:9536098 PMID:11586297 PMID:11586298 More... NCBI chr 9:68,107,310...68,180,192
Ensembl chr 9:60,613,167...60,670,737 		JBrowse link
G Oxct1 3-oxoacid CoA transferase 1 ISO ClinVar Annotator: match by term: ALS2-Related Spectrum Disorders ClinVar PMID:23281106 NCBI chr 2:54,963,964...55,112,303
Ensembl chr 2:53,236,368...53,384,714 		JBrowse link
amyotrophic lateral sclerosis type 20 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hnrnpa1 heterogeneous nuclear ribonucleoprotein A1 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 20 OMIM
ClinVar		 PMID:23455423 PMID:25741868 NCBI chr 7:136,253,633...136,260,085
Ensembl chr 7:134,375,150...134,381,609 		JBrowse link
amyotrophic lateral sclerosis type 21 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Matr3 matrin 3 ISO
ISS		 ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 21 | ClinVar Annotator: match by term: Myopathy, distal, 2
OMIM:606070
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:9536098 PMID:9837826 PMID:17576681 PMID:19344878 PMID:24686783 More... NCBI chr18:27,428,190...27,474,421
Ensembl chr18:27,163,714...27,193,166 		JBrowse link
amyotrophic lateral sclerosis type 22 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tuba4a tubulin, alpha 4A ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 22 with frontotemporal dementia | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 22 | ClinVar Annotator: match by term: TUBA4A-related condition OMIM
ClinVar		 PMID:25374358 PMID:25741868 PMID:28492532 PMID:39033378 NCBI chr 9:84,158,871...84,174,041
Ensembl chr 9:76,709,614...76,713,918 		JBrowse link
amyotrophic lateral sclerosis type 23 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Anxa11 annexin A11 ISO ClinVar Annotator: match by term: ANXA11-related condition | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 23 OMIM
ClinVar		 PMID:16199547 PMID:25741868 PMID:28469040 PMID:28492532 PMID:29650794 More... NCBI chr16:1,419,627...1,464,590
Ensembl chr16:1,410,756...1,457,797 		JBrowse link
amyotrophic lateral sclerosis type 24 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nek1 NIMA-related kinase 1 ISO ClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 24 | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis, susceptibility to, 24 OMIM
ClinVar		 PMID:21211617 PMID:22499340 PMID:24033266 PMID:25741868 PMID:26945885 More... NCBI chr16:34,009,092...34,137,418
Ensembl chr16:28,998,231...29,117,723 		JBrowse link
amyotrophic lateral sclerosis type 25 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kif5a kinesin family member 5A susceptibility ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis, susceptibility to, 25 | ClinVar Annotator: match by term: KIF5A-related amyotrophic lateral sclerosis ClinVar
OMIM		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:29342275 More... NCBI chr 7:64,937,210...64,974,339
Ensembl chr 7:63,049,424...63,092,858 		JBrowse link
amyotrophic lateral sclerosis type 26 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tia1 TIA1 cytotoxic granule-associated RNA binding protein ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 26 with or without frontotemporal dementia OMIM
ClinVar		 PMID:25741868 PMID:26467025 PMID:26627873 PMID:28490364 PMID:28492532 More... NCBI chr 4:120,410,180...120,440,676
Ensembl chr 4:118,852,837...118,880,586 		JBrowse link
amyotrophic lateral sclerosis type 28 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrp12 LDL receptor related protein 12 ISO ClinVar Annotator: match by term: LRP12-related condition OMIM
ClinVar		 NCBI chr 7:72,825,979...72,897,308
Ensembl chr 7:70,941,068...71,012,441 		JBrowse link
amyotrophic lateral sclerosis type 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Setx senataxin ISO
ISS		 ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 4
OMIM:602433
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:9467005 PMID:9497266 PMID:9536098 PMID:14770181 PMID:15106121 More... NCBI chr 3:32,825,771...32,878,740
Ensembl chr 3:12,427,635...12,480,803 		JBrowse link
amyotrophic lateral sclerosis type 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Spg11 SPG11 vesicle trafficking associated, spatacsin ISO ClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS 5, JUVENILE | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 5
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:16199547 PMID:17322883 PMID:17576681 PMID:17717710 More... NCBI chr 3:129,453,118...129,526,469
Ensembl chr 3:109,008,135...109,072,911 		JBrowse link
G Trpv4 transient receptor potential cation channel, subfamily V, member 4 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 5 ClinVar PMID:28492532 NCBI chr12:47,599,161...47,638,143
Ensembl chr12:41,938,560...41,977,517 		JBrowse link
amyotrophic lateral sclerosis type 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fus Fus RNA binding protein ISO
ISS		 ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 6, autosomal recessive | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 6
OMIM:608030
CTD Direct Evidence: marker/mechanism
DNA:mutations:cds:		 OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:9536098 PMID:12840784 PMID:12858291 PMID:16199547 PMID:17576681 More... RGD:9685712 NCBI chr 1:192,007,011...192,020,887
Ensembl chr 1:182,576,545...182,590,414 		JBrowse link
G Vcp valosin-containing protein ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 6 ClinVar PMID:30103325 NCBI chr 5:62,005,984...62,025,387
Ensembl chr 5:57,210,168...57,229,571 		JBrowse link
amyotrophic lateral sclerosis type 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apcdd1l APC down-regulated 1 like ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 8 ClinVar PMID:28492532 NCBI chr 3:183,000,504...183,076,628
Ensembl chr 3:162,582,252...162,658,073 		JBrowse link
G Atp5f1e ATP synthase F1 subunit epsilon ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 8 ClinVar PMID:28492532 NCBI chr 3:183,677,270...183,680,172
Ensembl chr 3:163,260,476...163,261,450 		JBrowse link
G Ctsz cathepsin Z ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 8 ClinVar PMID:28492532 NCBI chr 3:183,643,077...183,653,847
Ensembl chr 3:163,224,875...163,235,645 		JBrowse link
G Edn3 endothelin 3 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 8 ClinVar PMID:28492532 NCBI chr 3:183,980,458...184,004,958
Ensembl chr 3:163,562,520...163,585,093 		JBrowse link
G Gnas GNAS complex locus ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 8 ClinVar PMID:28492532 NCBI chr 3:183,489,648...183,554,570
Ensembl chr 3:163,071,417...163,127,262
Ensembl chr 3:163,071,417...163,127,262 		JBrowse link
G Mir296 microRNA 296 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 8 ClinVar PMID:28492532 NCBI chr 3:183,470,069...183,470,146
Ensembl chr 3:163,051,838...163,051,915 		JBrowse link
G Mir298 microRNA 298 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 8 ClinVar PMID:28492532 NCBI chr 3:183,470,522...183,470,603
Ensembl chr 3:163,052,291...163,052,372 		JBrowse link
G Nelfcd negative elongation factor complex member C/D ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 8 ClinVar PMID:28492532 NCBI chr 3:183,631,968...183,643,088
Ensembl chr 3:163,213,762...163,224,884 		JBrowse link
G Npepl1 aminopeptidase-like 1 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 8 ClinVar PMID:28492532 NCBI chr 3:183,312,185...183,324,744
Ensembl chr 3:162,893,943...162,906,492 		JBrowse link
G Prelid3b PRELI domain containing 3B ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 8 ClinVar PMID:28492532 NCBI chr 3:183,681,257...183,689,253
Ensembl chr 3:163,262,985...163,271,181 		JBrowse link
G Stx16 syntaxin 16 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 8 ClinVar PMID:28492532 NCBI chr 3:183,271,417...183,300,746
Ensembl chr 3:162,853,782...162,882,489 		JBrowse link
G Tubb1 tubulin, beta 1 class VI ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 8 ClinVar PMID:28492532 NCBI chr 3:183,666,189...183,675,656
Ensembl chr 3:163,247,967...163,256,063 		JBrowse link
G Vapb VAMP associated protein B and C ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 8
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:15372378 PMID:16187141 PMID:16199547 PMID:16967488 More... NCBI chr 3:182,954,247...182,997,018
Ensembl chr 3:162,535,905...162,573,763 		JBrowse link
G Zfp831 zinc finger protein 831 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 8 ClinVar PMID:28492532 NCBI chr 3:183,811,489...183,931,900
Ensembl chr 3:163,438,006...163,509,095 		JBrowse link
amyotrophic lateral sclerosis type 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ang angiogenin ISO ClinVar Annotator: match by term: ANG-related condition | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 9
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:16501576 PMID:17462671 PMID:17703939 PMID:17886298 PMID:17900154 More... NCBI chr15:26,786,233...26,796,883 JBrowse link
G Rnase4 ribonuclease A family member 4 ISO ClinVar Annotator: match by term: ANG-related condition | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 9 ClinVar PMID:16501576 PMID:17462671 PMID:17703939 PMID:17886298 PMID:17900154 More... NCBI chr15:26,786,287...26,803,634
Ensembl chr15:24,312,464...24,330,117 		JBrowse link
Amyotrophic Lateral Sclerosis, Autosomal Recessive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Als2 alsin Rho guanine nucleotide exchange factor ALS2 ISO ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Recessive ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:68,107,310...68,180,192
Ensembl chr 9:60,613,167...60,670,737 		JBrowse link
G Optn optineurin ISO ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Recessive ClinVar PMID:25741868 NCBI chr17:78,118,847...78,169,543
Ensembl chr17:73,209,575...73,260,251 		JBrowse link
amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Park7 Parkinsonism associated deglycase ISO ClinVar Annotator: match by term: Guam disease ClinVar PMID:25741868 NCBI chr 5:166,636,551...166,659,825
Ensembl chr 5:161,353,719...161,376,970 		JBrowse link
G Trpm7 transient receptor potential cation channel, subfamily M, member 7 susceptibility
no_association		 ISO DNA:mutation:cds: p.T1482I (human)
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis, Parkinsonism/Dementia complex of Guam | ClinVar Annotator: match by term: Guam disease | ClinVar Annotator: match by term: TRPM7-related condition		 ClinVar
OMIM
RGD		 PMID:16051700 PMID:19405049 PMID:25741868 PMID:28492532 PMID:30090657 More... RGD:5685005, RGD:5685008 NCBI chr 3:134,499,617...134,588,113
Ensembl chr 3:114,046,258...114,135,190 		JBrowse link
autosomal dominant adult-onset proximal spinal muscular atrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kif1b kinesin family member 1B ISO ClinVar Annotator: match by term: Spinal muscular atrophy, late-onset, finkel type ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:164,890,778...165,025,848
Ensembl chr 5:159,561,271...159,742,778 		JBrowse link
G Vapb VAMP associated protein B and C ISO ClinVar Annotator: match by term: Adult proximal spinal muscular atrophy, autosomal dominant | ClinVar Annotator: match by term: Adult-onset proximal spinal muscular atrophy, autosomal dominant | ClinVar Annotator: match by term: FINKEL LATE-ADULT TYPE SMA | ClinVar Annotator: match by term: Spinal muscular atrophy, late-onset, finkel type
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:15372378 PMID:16187141 PMID:16967488 PMID:17804640 PMID:18322265 More... NCBI chr 3:182,954,247...182,997,018
Ensembl chr 3:162,535,905...162,573,763 		JBrowse link
autosomal dominant distal hereditary motor neuronopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bicd2 BICD cargo adaptor 2 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal dominant ClinVar PMID:8114789 PMID:22628388 PMID:23664116 PMID:23664119 PMID:23664120 More... NCBI chr17:15,449,011...15,511,423
Ensembl chr17:15,259,773...15,304,889 		JBrowse link
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal dominant ClinVar PMID:12730604 PMID:20697106 PMID:21102439 PMID:22459677 PMID:23664120 More... NCBI chr 6:135,436,375...135,502,117
Ensembl chr 6:129,609,397...129,680,883 		JBrowse link
G Fig4 FIG4 phosphoinositide 5-phosphatase ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal dominant ClinVar NCBI chr20:46,183,225...46,306,686
Ensembl chr20:44,600,603...44,723,844 		JBrowse link
G Gars1 glycyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal dominant ClinVar PMID:17101916 PMID:20301420 PMID:22462675 PMID:25168514 NCBI chr 4:85,484,939...85,542,876
Ensembl chr 4:84,171,596...84,212,609 		JBrowse link
G Ighmbp2 immunoglobulin mu DNA binding protein 2 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal dominant ClinVar PMID:2545169 PMID:11528396 PMID:14681881 PMID:15108294 PMID:15797190 More... NCBI chr 1:209,935,922...209,958,570
Ensembl chr 1:200,506,338...200,529,514 		JBrowse link
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal dominant ClinVar PMID:18585512 PMID:18926329 PMID:25741868 PMID:25886484 PMID:28152038 More... NCBI chr 2:176,237,564...176,265,301
Ensembl chr 2:173,939,751...173,960,423 		JBrowse link
G Morc2 MORC family CW-type zinc finger 2 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal dominant ClinVar PMID:26659848 PMID:28492532 PMID:31475037 NCBI chr14:82,752,444...82,794,980
Ensembl chr14:78,527,009...78,571,343 		JBrowse link
G Nefl neurofilament light chain ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal dominant ClinVar NCBI chr15:46,477,330...46,481,203
Ensembl chr15:42,301,916...42,305,793 		JBrowse link
G Setx senataxin ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal dominant ClinVar PMID:19696032 PMID:22088787 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 3:32,825,771...32,878,740
Ensembl chr 3:12,427,635...12,480,803 		JBrowse link
G Trpv4 transient receptor potential cation channel, subfamily V, member 4 ISO ClinVar Annotator: match by term: Autosomal dominant distal hereditary motor neuropathy | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal dominant ClinVar PMID:1520078 PMID:8179305 PMID:10463355 PMID:15668982 PMID:20037586 More... NCBI chr12:47,599,161...47,638,143
Ensembl chr12:41,938,560...41,977,517 		JBrowse link
autosomal dominant distal hereditary motor neuronopathy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ighmbp2 immunoglobulin mu DNA binding protein 2 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal dominant 1 ClinVar PMID:14681881 PMID:25439726 PMID:25568292 PMID:25741868 PMID:28492532 NCBI chr 1:209,935,922...209,958,570
Ensembl chr 1:200,506,338...200,529,514 		JBrowse link
autosomal dominant distal hereditary motor neuronopathy 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Emilin1 elastin microfibril interfacer 1 ISO ClinVar Annotator: match by term: EMILIN1-related condition | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal dominant 10 OMIM
ClinVar		 PMID:25741868 PMID:26462740 PMID:28492532 PMID:31978608 PMID:36351433 NCBI chr 6:31,175,919...31,183,657
Ensembl chr 6:25,445,298...25,463,698 		JBrowse link
autosomal dominant distal hereditary motor neuronopathy 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sptan1 spectrin, alpha, non-erythrocytic 1 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal dominant 11 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:31332438 PMID:33206935 PMID:33578420 More... NCBI chr 3:33,639,020...33,703,890
Ensembl chr 3:13,241,217...13,306,046 		JBrowse link
autosomal dominant distal hereditary motor neuronopathy 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bicd2 BICD cargo adaptor 2 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 5B ClinVar PMID:24002164 PMID:28492532 NCBI chr17:15,449,011...15,511,423
Ensembl chr17:15,259,773...15,304,889 		JBrowse link
G Reep1 receptor accessory protein 1 ISO ClinVar Annotator: match by term: DHMN VB | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 5B OMIM
ClinVar		 PMID:16826527 PMID:18321925 PMID:18644145 PMID:19034539 PMID:20718791 More... NCBI chr 4:105,303,974...105,420,611
Ensembl chr 4:103,745,633...103,862,338 		JBrowse link
autosomal dominant distal hereditary motor neuronopathy 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bscl2 BSCL2 lipid droplet biogenesis associated, seipin ISO ClinVar Annotator: match by term: DHMN VC | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 5C | ClinVar Annotator: match by term: SPINAL MUSCULAR ATROPHY, DISTAL, HARDING TYPE VC OMIM
ClinVar		 PMID:1674639 PMID:5964029 PMID:11479539 PMID:12362029 PMID:14557463 More... NCBI chr 1:215,160,764...215,172,540
Ensembl chr 1:205,733,872...205,743,421 		JBrowse link
autosomal dominant distal hereditary motor neuronopathy 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dctn1 dynactin subunit 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: LOWER MOTOR NEURON DISEASE, DYNACTIN TYPE | ClinVar Annotator: match by term: NEUROPATHY, DISTAL HEREDITARY MOTOR, WITH VOCAL CORD PARALYSIS, HARDING TYPE VIIB | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7B		 CTD
OMIM
ClinVar		 PMID:9536098 PMID:12062019 PMID:12627231 PMID:15326253 PMID:16199547 More... NCBI chr 4:117,228,722...117,261,528
Ensembl chr 4:115,661,638...115,703,815 		JBrowse link
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Genetic motor neuron disease ClinVar PMID:25635128 NCBI chr 6:135,436,375...135,502,117
Ensembl chr 6:129,609,397...129,680,883 		JBrowse link
G Gars1 glycyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Genetic motor neuron disease ClinVar PMID:25635128 NCBI chr 4:85,484,939...85,542,876
Ensembl chr 4:84,171,596...84,212,609 		JBrowse link
G Mfn2 mitofusin 2 ISO ClinVar Annotator: match by term: Genetic motor neuron disease ClinVar PMID:16199547 PMID:16714318 PMID:18425620 PMID:21715711 PMID:22206013 More... NCBI chr 5:163,587,463...163,617,363
Ensembl chr 5:158,304,287...158,335,342 		JBrowse link
G Mpz myelin protein zero ISO ClinVar Annotator: match by term: Genetic motor neuron disease ClinVar PMID:7693129 PMID:20571287 PMID:25694466 PMID:28492532 NCBI chr13:86,103,290...86,109,156
Ensembl chr13:83,570,811...83,576,679 		JBrowse link
G Nefl neurofilament light chain ISO ClinVar Annotator: match by term: Genetic motor neuron disease ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr15:46,477,330...46,481,203
Ensembl chr15:42,301,916...42,305,793 		JBrowse link
G Plekhg5 pleckstrin homology and RhoGEF domain containing G5 ISO ClinVar Annotator: match by term: Genetic motor neuron disease ClinVar PMID:16728649 PMID:17564964 NCBI chr 5:167,860,730...167,904,229
Ensembl chr 5:162,578,071...162,621,513 		JBrowse link
G Scn11a sodium voltage-gated channel alpha subunit 11 ISO ClinVar Annotator: match by term: Genetic motor neuron disease ClinVar PMID:24776970 PMID:25741868 PMID:28492532 NCBI chr 8:128,374,441...128,444,718
Ensembl chr 8:119,496,769...119,567,044 		JBrowse link
G Setx senataxin ISO ClinVar Annotator: match by term: Genetic motor neuron disease ClinVar PMID:24533459 NCBI chr 3:32,825,771...32,878,740
Ensembl chr 3:12,427,635...12,480,803 		JBrowse link
G Sh3tc2 SH3 domain and tetratricopeptide repeats 2 ISO ClinVar Annotator: match by term: Genetic motor neuron disease ClinVar PMID:26467025 PMID:28492532 NCBI chr18:57,686,701...57,747,735
Ensembl chr18:55,416,413...55,483,083 		JBrowse link
G Trpv4 transient receptor potential cation channel, subfamily V, member 4 ISO ClinVar Annotator: match by term: Genetic motor neuron disease ClinVar PMID:20037586 PMID:20037587 PMID:20037588 PMID:20460441 PMID:21336783 More... NCBI chr12:47,599,161...47,638,143
Ensembl chr12:41,938,560...41,977,517 		JBrowse link
autosomal dominant distal hereditary motor neuronopathy 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bag3 BAG cochaperone 3 ISO ClinVar Annotator: match by term: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 15 OMIM
ClinVar		 PMID:37907725 NCBI chr 1:192,533,460...192,557,281
Ensembl chr 1:183,102,871...183,126,858 		JBrowse link
autosomal dominant distal hereditary motor neuronopathy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbxo38 F-box protein 38 ISO ClinVar Annotator: match by term: Distal hereditary motor neuropathy type 2 ClinVar PMID:7723957 PMID:9536098 PMID:16199547 PMID:17576681 PMID:24207122 More... NCBI chr18:58,227,253...58,274,320
Ensembl chr18:55,956,959...56,003,961 		JBrowse link
G Hspb1 heat shock protein family B (small) member 1 ISO ClinVar Annotator: match by term: Distal hereditary motor neuropathy type 2 ClinVar PMID:18344398 PMID:18832141 PMID:21892769 PMID:23948568 PMID:25220807 More... NCBI chr12:26,430,640...26,432,301
Ensembl chr12:20,794,028...20,795,743 		JBrowse link
G Hspb8 heat shock protein family B (small) member 8 ISO
ISS		 ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 2A
OMIM:158590
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:1517763 PMID:15122253 PMID:17344846 PMID:20538880 PMID:21985219 More... NCBI chr12:45,835,899...45,866,449
Ensembl chr12:40,176,532...40,191,185 		JBrowse link
G Mpz myelin protein zero ISO ClinVar Annotator: match by term: Distal hereditary motor neuropathy type 2 ClinVar PMID:9452091 PMID:10071056 PMID:10329755 PMID:10764043 PMID:10835936 More... NCBI chr13:86,103,290...86,109,156
Ensembl chr13:83,570,811...83,576,679 		JBrowse link
autosomal dominant distal hereditary motor neuronopathy 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fkrp fukutin related protein ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 2B ClinVar PMID:11741828 PMID:12666124 PMID:14647208 PMID:15060126 PMID:15574464 More... NCBI chr 1:86,607,769...86,615,045
Ensembl chr 1:77,476,084...77,486,992 		JBrowse link
G Hspb1 heat shock protein family B (small) member 1 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 2B
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:2814495 PMID:9536098 PMID:11528513 PMID:15122254 PMID:16087758 More... NCBI chr12:26,430,640...26,432,301
Ensembl chr12:20,794,028...20,795,743 		JBrowse link
autosomal dominant distal hereditary motor neuronopathy 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hspb3 heat shock protein family B (small) member 3 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 2C OMIM
ClinVar		 PMID:8972725 PMID:20142617 PMID:25741868 PMID:26467025 PMID:28492532 More... NCBI chr 2:47,028,451...47,029,165
Ensembl chr 2:45,295,053...45,296,145 		JBrowse link
autosomal dominant distal hereditary motor neuronopathy 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bscl2 BSCL2 lipid droplet biogenesis associated, seipin ISO ClinVar Annotator: match by term: DHMN VA | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 5A ClinVar PMID:1674639 PMID:5964029 PMID:11479539 PMID:14557463 PMID:14981520 More... NCBI chr 1:215,160,764...215,172,540
Ensembl chr 1:205,733,872...205,743,421 		JBrowse link
G Gars1 glycyl-tRNA synthetase 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: DHMN VA | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 5 | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 5A		 CTD
ClinVar
OMIM		 PMID:8541851 PMID:9879677 PMID:12690580 PMID:16014653 PMID:16534118 More... NCBI chr 4:85,484,939...85,542,876
Ensembl chr 4:84,171,596...84,212,609 		JBrowse link
G Pnpo pyridoxamine 5'-phosphate oxidase ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 5A ClinVar PMID:24266778 PMID:24645144 PMID:24658933 PMID:24781210 PMID:25741868 More... NCBI chr10:82,421,027...82,427,288
Ensembl chr10:81,924,569...81,930,871 		JBrowse link
G Reep1 receptor accessory protein 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:105,303,974...105,420,611
Ensembl chr 4:103,745,633...103,862,338 		JBrowse link
autosomal dominant distal hereditary motor neuronopathy 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbxo38 F-box protein 38 ISO ClinVar Annotator: match by term: FBXO38-related condition | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 2D OMIM
ClinVar		 PMID:7723957 PMID:24207122 PMID:25741868 PMID:28492532 PMID:31420593 More... NCBI chr18:58,227,253...58,274,320
Ensembl chr18:55,956,959...56,003,961 		JBrowse link
autosomal dominant distal hereditary motor neuronopathy 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc138 coiled-coil domain containing 138 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A ClinVar PMID:28492532 NCBI chr20:27,037,256...27,115,454
Ensembl chr20:26,495,235...26,572,376 		JBrowse link
G Edar ectodysplasin-A receptor ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A ClinVar PMID:28492532 NCBI chr20:27,130,934...27,209,672
Ensembl chr20:26,587,839...26,666,494 		JBrowse link
G Gcc2 GRIP and coiled-coil domain containing 2 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A ClinVar PMID:28492532 NCBI chr20:26,788,472...26,836,728
Ensembl chr20:26,247,404...26,293,613 		JBrowse link
G Lims1 LIM zinc finger domain containing 1 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A ClinVar PMID:28492532 NCBI chr20:26,851,364...26,961,607
Ensembl chr20:26,309,895...26,418,500 		JBrowse link
G Ranbp2 RAN binding protein 2 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A ClinVar PMID:28492532 NCBI chr20:26,984,520...27,036,573
Ensembl chr20:26,442,217...26,493,481 		JBrowse link
G Slc5a7 solute carrier family 5 member 7 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type viia
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:7420092 PMID:9536098 PMID:11294660 PMID:15173594 PMID:16199547 More... NCBI chr 9:7,922,693...7,953,509
Ensembl chr 9:7,595,444...7,626,258 		JBrowse link
G Sult1c2a sulfotransferase family 1C member 2A ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A ClinVar PMID:28492532 NCBI chr 9:7,075,873...7,103,316
Ensembl chr 9:6,874,249...6,904,734 		JBrowse link
G Sult1c3 sulfotransferase family 1C member 3 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A ClinVar PMID:28492532 NCBI chr 9:7,548,839...7,594,299
Ensembl chr 9:7,221,578...7,267,030 		JBrowse link
autosomal dominant distal hereditary motor neuronopathy 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trpv4 transient receptor potential cation channel, subfamily V, member 4 ISO ClinVar Annotator: match by term: Autosomal dominant congenital benign spinal muscular atrophy | ClinVar Annotator: match by term: Distal spinal muscular atrophy, congenital nonprogressive | ClinVar Annotator: match by term: NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VIII | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal dominant 8
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:4056805 PMID:8179305 PMID:10463355 PMID:15668982 PMID:17879966 More... NCBI chr12:47,599,161...47,638,143
Ensembl chr12:41,938,560...41,977,517 		JBrowse link
autosomal dominant distal hereditary motor neuronopathy 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wars1 tryptophanyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE IX | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 9 OMIM
ClinVar		 PMID:25741868 PMID:28369220 PMID:31069783 PMID:31321409 NCBI chr 6:133,540,463...133,571,645
Ensembl chr 6:127,776,090...127,807,269 		JBrowse link
autosomal recessive distal hereditary motor neuronopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col6a3 collagen type VI alpha 3 chain ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal recessive ClinVar PMID:9536098 PMID:17576681 PMID:28492532 NCBI chr 9:98,809,171...98,887,060
Ensembl chr 9:91,361,583...91,439,471 		JBrowse link
autosomal recessive distal hereditary motor neuronopathy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ighmbp2 immunoglobulin mu DNA binding protein 2 ISO
ISS		 DNA:mutations:multiple (human)
ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 1 | ClinVar Annotator: match by term: NEUROPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 1 | ClinVar Annotator: match by term: Neuronopathy, severe infantile axonal, with respiratory failure | ClinVar Annotator: match by term: SPINAL MUSCULAR ATROPHY, DIAPHRAGMATIC | ClinVar Annotator: match by term: Severe infantile axonal neuropathy with respiratory failure
OMIM:604320
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:2545169 PMID:9536098 PMID:11528396 PMID:14506069 PMID:14681881 More... RGD:737748 NCBI chr 1:209,935,922...209,958,570
Ensembl chr 1:200,506,338...200,529,514 		JBrowse link
autosomal recessive distal hereditary motor neuronopathy 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vrk1 VRK serine/threonine kinase 1 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal recessive 10 OMIM
ClinVar		 PMID:19646678 PMID:21543316 PMID:21920476 PMID:24126608 PMID:25356970 More... NCBI chr 6:130,679,400...130,746,089
Ensembl chr 6:124,914,855...124,981,436 		JBrowse link
autosomal recessive distal hereditary motor neuronopathy 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rtn2 reticulon 2 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal recessive 11, with spasticity OMIM
ClinVar		 PMID:10677333 PMID:12427890 PMID:22232211 PMID:38527963 NCBI chr 1:88,063,124...88,076,082
Ensembl chr 1:78,935,104...78,948,069 		JBrowse link
autosomal recessive distal hereditary motor neuronopathy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arhgef39 Rho guanine nucleotide exchange factor 39 ISO ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 ClinVar PMID:28492532 NCBI chr 5:62,548,300...62,551,870
Ensembl chr 5:57,752,509...57,756,109 		JBrowse link
G Arid3c AT-rich interaction domain 3C ISO ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 ClinVar PMID:28492532 NCBI chr 5:61,685,511...61,692,821
Ensembl chr 5:56,890,042...56,895,888 		JBrowse link
G Atosb atos homolog B ISO ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 ClinVar PMID:28492532 NCBI chr 5:62,056,654...62,070,338
Ensembl chr 5:57,260,841...57,268,892 		JBrowse link
G Car9 carbonic anhydrase 9 ISO ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 ClinVar PMID:28492532 NCBI chr 5:62,559,024...62,565,626
Ensembl chr 5:57,763,206...57,769,838 		JBrowse link
G Ccdc107 coiled-coil domain containing 107 ISO ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 ClinVar PMID:28492532 NCBI chr 5:62,545,273...62,548,711
Ensembl chr 5:57,748,999...57,752,918 		JBrowse link
G Ccin calicin ISO ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 ClinVar PMID:28492532 NCBI chr 5:63,002,427...63,004,314
Ensembl chr 5:58,206,633...58,208,951 		JBrowse link
G Ccl19 C-C motif chemokine ligand 19 ISO ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 ClinVar PMID:28492532 NCBI chr 5:61,759,220...61,761,164
Ensembl chr 5:56,963,364...56,965,308 		JBrowse link
G Ccl21 C-C motif chemokine ligand 21 ISO ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 ClinVar PMID:28492532 NCBI chr 5:61,776,411...61,777,515
Ensembl chr 5:56,980,558...56,981,686 		JBrowse link
G Ccl27 C-C motif chemokine ligand 27 ISO ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 ClinVar PMID:28492532 NCBI chr 5:61,737,261...61,744,375
Ensembl chr 5:56,941,402...56,948,506 		JBrowse link
G Cd72 Cd72 molecule ISO ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 ClinVar PMID:28492532 NCBI chr 5:62,493,155...62,500,779
Ensembl chr 5:57,697,367...57,704,725 		JBrowse link
G Cimip2b ciliary microtubule inner protein 2B ISO ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 ClinVar PMID:28492532 NCBI chr 5:62,471,246...62,477,812
Ensembl chr 5:57,675,462...57,678,611 		JBrowse link
G Clta clathrin, light chain A ISO ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 ClinVar PMID:28492532 NCBI chr 5:63,022,046...63,059,223
Ensembl chr 5:58,245,442...58,263,472 		JBrowse link
G Cntfr ciliary neurotrophic factor receptor ISO ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 ClinVar PMID:28492532 NCBI chr 5:61,619,326...61,657,359
Ensembl chr 5:56,823,965...56,841,392 		JBrowse link
G Creb3 cAMP responsive element binding protein 3 ISO ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 ClinVar PMID:28492532 NCBI chr 5:62,613,652...62,619,019
Ensembl chr 5:57,817,832...57,824,390 		JBrowse link
G Dctn3 dynactin subunit 3 ISO ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 ClinVar PMID:28492532 NCBI chr 5:61,676,950...61,684,958
Ensembl chr 5:56,881,085...56,889,102 		JBrowse link
G Dnai1 dynein, axonemal, intermediate chain 1 ISO ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 ClinVar PMID:28492532 NCBI chr 5:61,526,079...61,596,806
Ensembl chr 5:56,730,179...56,800,925 		JBrowse link
G Dnajb2 DnaJ heat shock protein family (Hsp40) member B2 ISO ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 | ClinVar Annotator: match by term: NEUROPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 2 ClinVar PMID:22522442 PMID:24627108 PMID:25274842 PMID:25741868 PMID:26752306 More... NCBI chr 9:84,179,702...84,187,942
Ensembl chr 9:76,731,065...76,739,277 		JBrowse link
G Dnajb5 DnaJ heat shock protein family (Hsp40) member B5 ISO ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 ClinVar PMID:28492532 NCBI chr 5:61,972,637...61,981,887
Ensembl chr 5:57,176,845...57,185,490 		JBrowse link
G Enho energy homeostasis associated ISO ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 ClinVar PMID:28492532 NCBI chr 5:61,596,860...61,598,657
Ensembl chr 5:56,800,980...56,802,777 		JBrowse link
G Fam221b family with sequence similarity 221, member B ISO ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 ClinVar PMID:28492532 NCBI chr 5:62,706,118...62,715,339
Ensembl chr 5:57,910,352...57,919,367 		JBrowse link
G Fancg FA complementation group G ISO ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 ClinVar PMID:28492532 NCBI chr 5:62,027,494...62,037,202
Ensembl chr 5:57,231,685...57,240,029 		JBrowse link
G Galt galactose-1-phosphate uridylyltransferase ISO ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 ClinVar PMID:28492532 NCBI chr 5:61,722,871...61,726,128
Ensembl chr 5:56,926,724...56,930,265 		JBrowse link
G Gba2 glucosylceramidase beta 2 ISO ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 ClinVar PMID:28492532 NCBI chr 5:62,618,176...62,630,160
Ensembl chr 5:57,822,389...57,834,072 		JBrowse link
G Glipr2 GLI pathogenesis-related 2 ISO ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 ClinVar PMID:28492532 NCBI chr 5:62,966,163...62,998,016
Ensembl chr 5:58,170,425...58,202,272 		JBrowse link
G Gne glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase ISO ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 ClinVar PMID:28492532 NCBI chr 5:63,062,953...63,103,320
Ensembl chr 5:58,267,210...58,307,499 		JBrowse link
G Hint2 histidine triad nucleotide binding protein 2 ISO ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 ClinVar PMID:28492532 NCBI chr 5:62,700,383...62,702,638
Ensembl chr 5:57,904,614...57,907,097 		JBrowse link
G Hrct1 histidine rich carboxyl terminus 1 ISO ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 ClinVar PMID:28492532 NCBI chr 5:62,778,112...62,778,954
Ensembl chr 5:57,982,470...57,982,790 		JBrowse link
G Il11ra1 interleukin 11 receptor subunit alpha 1 ISO ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 ClinVar PMID:28492532 NCBI chr 5:61,727,650...61,737,265
Ensembl chr 5:56,935,516...56,941,408 		JBrowse link
G Msmp microseminoprotein, prostate associated ISO ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 ClinVar PMID:28492532 NCBI chr 5:62,634,721...62,635,771
Ensembl chr 5:57,838,935...57,839,985 		JBrowse link
G Npr2 natriuretic peptide receptor 2 ISO ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 ClinVar PMID:28492532 NCBI chr 5:62,678,197...62,697,360
Ensembl chr 5:57,883,171...57,901,580 		JBrowse link
G Or13c7 olfactory receptor family 13 subfamily C member 7 ISO ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 ClinVar PMID:28492532 NCBI chr 5:62,876,908...62,877,867
Ensembl chr 5:58,077,726...58,083,852 		JBrowse link
G Or13j1 olfactory receptor family 13 subfamily J member 1 ISO ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 ClinVar PMID:28492532 NCBI chr 5:62,757,159...62,758,097
Ensembl chr 5:57,960,219...57,965,853 		JBrowse link
G Phf24 PHD finger protein 24 ISO ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 ClinVar PMID:28492532 NCBI chr 5:61,939,261...61,966,879
Ensembl chr 5:57,142,632...57,168,497 		JBrowse link
G Pigo phosphatidylinositol glycan anchor biosynthesis, class O ISO ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 ClinVar PMID:28492532 NCBI chr 5:62,040,979...62,052,067
Ensembl chr 5:57,245,166...57,254,146 		JBrowse link
G Reck reversion-inducing-cysteine-rich protein with kazal motifs ISO ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 ClinVar PMID:28492532 NCBI chr 5:62,898,717...62,965,274
Ensembl chr 5:58,102,981...58,169,502 		JBrowse link
G Rgp1 RGP1 homolog, RAB6A GEF complex partner 1 ISO ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 ClinVar PMID:28492532 NCBI chr 5:62,630,253...62,638,872
Ensembl chr 5:57,834,629...57,843,086 		JBrowse link
G Rpp25l ribonuclease P/MRP subunit p25 like ISO ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 ClinVar PMID:28492532 NCBI chr 5:61,674,299...61,675,844
Ensembl chr 5:56,876,316...56,880,013 		JBrowse link
G Rusc2 RUN and SH3 domain containing 2 ISO ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 ClinVar PMID:28492532 NCBI chr 5:62,424,185...62,471,317
Ensembl chr 5:57,629,904...57,675,524 		JBrowse link
G Sigmar1 sigma non-opioid intracellular receptor 1 ISO ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 | ClinVar Annotator: match by term: Spinal muscular atrophy, Jerash type
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:21031579 PMID:21842496 More... NCBI chr 5:61,700,021...61,702,799
Ensembl chr 5:56,904,159...56,907,017 		JBrowse link
G Sit1 signaling threshold regulating transmembrane adaptor 1 ISO ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 ClinVar PMID:28492532 NCBI chr 5:62,536,003...62,538,230
Ensembl chr 5:57,740,218...57,741,838 		JBrowse link
G Spag8 sperm associated antigen 8 ISO ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 ClinVar PMID:28492532 NCBI chr 5:62,697,451...62,699,664
Ensembl chr 5:57,901,682...57,903,894 		JBrowse link
G Spata31f1 SPATA31 subfamily F member 1 ISO ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 ClinVar PMID:28492532 NCBI chr 5:61,861,587...61,867,724
Ensembl chr 5:57,065,747...57,071,738 		JBrowse link
G Spata31g1 SPATA31 subfamily G member 1 ISO ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 ClinVar PMID:28492532 NCBI chr 5:61,995,800...61,999,889
Ensembl chr 5:57,200,000...57,204,070 		JBrowse link
G Stoml2 stomatin like 2 ISO ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 ClinVar PMID:28492532 NCBI chr 5:62,052,042...62,055,639
Ensembl chr 5:57,256,220...57,259,920 		JBrowse link
G Tesk1 testis associated actin remodelling kinase 1 ISO ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 ClinVar PMID:28492532 NCBI chr 5:62,487,763...62,493,492
Ensembl chr 5:57,691,969...57,697,698 		JBrowse link
G Tln1 talin 1 ISO ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 ClinVar PMID:28492532 NCBI chr 5:62,583,730...62,613,687
Ensembl chr 5:57,787,943...57,817,900 		JBrowse link
G Tmem8b transmembrane protein 8B ISO ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 ClinVar PMID:28492532 NCBI chr 5:62,715,238...62,744,187
Ensembl chr 5:57,919,804...57,946,772 		JBrowse link
G Tpm2 tropomyosin 2 ISO ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 ClinVar PMID:28492532 NCBI chr 5:62,566,712...62,576,066
Ensembl chr 5:57,770,864...57,779,992 		JBrowse link
G Unc13b unc-13 homolog B ISO ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 ClinVar PMID:28492532 NCBI chr 5:62,084,809...62,299,884
Ensembl chr 5:57,289,227...57,502,926 		JBrowse link
G Vcp valosin-containing protein ISO ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 ClinVar PMID:28492532 NCBI chr 5:62,005,984...62,025,387
Ensembl chr 5:57,210,168...57,229,571 		JBrowse link
autosomal recessive distal hereditary motor neuronopathy 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Plekhg5 pleckstrin homology and RhoGEF domain containing G5 ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 4 | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal recessive 4 | ClinVar Annotator: match by term: PLEKHG5-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:16199547 PMID:16728649 PMID:17564964 PMID:17576681 More... NCBI chr 5:167,860,730...167,904,229
Ensembl chr 5:162,578,071...162,621,513 		JBrowse link
G Tnfrsf25 TNF receptor superfamily member 25 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal recessive 4 ClinVar PMID:25741868 NCBI chr 5:167,904,377...167,909,052
Ensembl chr 5:162,622,075...162,626,341 		JBrowse link
autosomal recessive distal hereditary motor neuronopathy 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Des desmin ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal recessive 5 ClinVar PMID:28492532 NCBI chr 9:84,299,626...84,307,344
Ensembl chr 9:76,850,982...76,858,699 		JBrowse link
G Dnajb2 DnaJ heat shock protein family (Hsp40) member B2 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal recessive 5 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22522442 PMID:23806086 More... NCBI chr 9:84,179,702...84,187,942
Ensembl chr 9:76,731,065...76,739,277 		JBrowse link
G Dnpep aspartyl aminopeptidase ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal recessive 5 ClinVar PMID:28492532 NCBI chr 9:84,248,581...84,257,484
Ensembl chr 9:76,783,966...76,808,716 		JBrowse link
G Ptprn protein tyrosine phosphatase, receptor type, N ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal recessive 5 ClinVar PMID:28492532 NCBI chr 9:84,189,676...84,205,364
Ensembl chr 9:76,741,016...76,756,190 		JBrowse link
G Resp18 regulated endocrine-specific protein 18 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal recessive 5 ClinVar PMID:28492532 NCBI chr 9:84,213,844...84,220,186
Ensembl chr 9:76,764,590...76,778,722 		JBrowse link
autosomal recessive distal hereditary motor neuronopathy 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Reep1 receptor accessory protein 1 ISO ClinVar Annotator: match by term: Spinal muscular atrophy, distal, autosomal recessive, 6 OMIM
ClinVar		 PMID:21618648 PMID:25741868 PMID:31872057 PMID:34193129 NCBI chr 4:105,303,974...105,420,611
Ensembl chr 4:103,745,633...103,862,338 		JBrowse link
autosomal recessive distal hereditary motor neuronopathy 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vwa1 von Willebrand factor A domain containing 1 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal recessive 7 | ClinVar Annotator: match by term: Neuropathy, hereditary motor, with myopathic features OMIM
ClinVar		 PMID:25741868 PMID:33459760 PMID:33559681 PMID:37712079 NCBI chr 5:171,659,694...171,664,880
Ensembl chr 5:166,377,455...166,382,637 		JBrowse link
autosomal recessive distal hereditary motor neuronopathy 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sord sorbitol dehydrogenase ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal recessive 8 OMIM
ClinVar		 PMID:8622605 PMID:25741868 PMID:28492532 PMID:32367058 PMID:32457452 More... NCBI chr 3:129,638,282...129,669,727
Ensembl chr 3:109,184,676...109,216,133 		JBrowse link
autosomal recessive distal hereditary motor neuronopathy 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Coq7 coenzyme Q7, hydroxylase ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal recessive 9 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:30369941 PMID:35782625 PMID:36454683 More... NCBI chr 1:182,270,570...182,285,959
Ensembl chr 1:172,835,188...172,851,158 		JBrowse link
Brown-Vialetto-Van Laere syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc52a2 solute carrier family 52 member 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:110,126,632...110,146,647
Ensembl chr 7:108,262,612...108,268,034 		JBrowse link
G Slc52a3 solute carrier family 52 member 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Pontobulbar palsy and neurosensory deafness		 CTD
ClinVar		 PMID:22718020 PMID:24033266 PMID:25741868 PMID:26072523 PMID:27702554 More... NCBI chr 3:160,959,233...160,976,170
Ensembl chr 3:140,509,473...140,514,096 		JBrowse link
Brown-Vialetto-Van Laere syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Csnk2a1 casein kinase 2 alpha 1 ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 1 ClinVar PMID:20206331 PMID:22824638 PMID:24239381 PMID:25462087 PMID:28492532 NCBI chr 3:161,170,295...161,217,073
Ensembl chr 3:140,709,991...140,756,696 		JBrowse link
G Rbck1 RANBP2-type and C3HC4-type zinc finger containing 1 ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 1 ClinVar PMID:20206331 PMID:22824638 PMID:24239381 PMID:25462087 PMID:28492532 NCBI chr 3:161,249,389...161,266,321
Ensembl chr 3:140,789,080...140,806,005 		JBrowse link
G Scrt2 scratch family transcriptional repressor 2 ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 1 ClinVar PMID:20206331 PMID:22824638 PMID:24239381 PMID:25462087 PMID:28492532 NCBI chr 3:161,041,651...161,055,596
Ensembl chr 3:140,581,593...140,593,299 		JBrowse link
G Slc52a2 solute carrier family 52 member 2 ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 1 ClinVar PMID:24253200 PMID:25741868 PMID:27148561 PMID:28492532 NCBI chr 7:110,126,632...110,146,647
Ensembl chr 7:108,262,612...108,268,034 		JBrowse link
G Slc52a3 solute carrier family 52 member 3 ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 1 OMIM
ClinVar		 PMID:2020633 PMID:9536098 PMID:16122634 PMID:16199547 PMID:17576681 More... NCBI chr 3:160,959,233...160,976,170
Ensembl chr 3:140,509,473...140,514,096 		JBrowse link
G Srxn1 sulfiredoxin 1 ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 1 ClinVar PMID:20206331 PMID:22824638 PMID:24239381 PMID:25462087 PMID:28492532 NCBI chr 3:161,064,812...161,070,372
Ensembl chr 3:140,599,608...140,628,448 		JBrowse link
G Tbc1d20 TBC1 domain family, member 20 ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 1 ClinVar PMID:20206331 PMID:22824638 PMID:24239381 PMID:25462087 PMID:28492532 NCBI chr 3:161,228,699...161,247,319
Ensembl chr 3:140,768,537...140,785,121 		JBrowse link
G Tcf15 transcription factor 15 ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 1 ClinVar PMID:20206331 PMID:22824638 PMID:24239381 PMID:25462087 PMID:28492532 NCBI chr 3:161,099,301...161,105,083
Ensembl chr 3:140,638,984...140,644,766 		JBrowse link
Brown-Vialetto-Van Laere syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adck5 aarF domain containing kinase 5 ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:110,182,275...110,200,088
Ensembl chr 7:108,301,415...108,319,436 		JBrowse link
G Bop1 BOP1 ribosomal biogenesis factor ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:110,052,716...110,076,529
Ensembl chr 7:108,172,066...108,195,931 		JBrowse link
G Ccdc166 coiled-coil domain containing 166 ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:109,574,271...109,576,074
Ensembl chr 7:107,693,574...107,695,375 		JBrowse link
G Cpsf1 cleavage and polyadenylation specific factor 1 ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:110,200,078...110,210,644
Ensembl chr 7:108,319,434...108,329,934 		JBrowse link
G Cyc1 cytochrome c-1 ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:109,947,750...109,950,142
Ensembl chr 7:108,067,115...108,069,479 		JBrowse link
G Dgat1 diacylglycerol O-acyltransferase 1 ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:110,104,514...110,119,091
Ensembl chr 7:108,218,524...108,234,299 		JBrowse link
G Eef1d eukaryotic translation elongation factor 1 delta ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:109,462,645...109,478,021
Ensembl chr 7:107,581,930...107,608,799 		JBrowse link
G Eppk1 epiplakin 1 ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:109,697,607...109,718,468
Ensembl chr 7:107,817,693...107,831,159 		JBrowse link
G Exosc4 exosome component 4 ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:109,928,491...109,931,233
Ensembl chr 7:108,047,831...108,050,573 		JBrowse link
G Fam83h family with sequence similarity 83, member H ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:109,597,129...109,605,317
Ensembl chr 7:107,716,431...107,728,672 		JBrowse link
G Fbxl6 F-box and leucine-rich repeat protein 6 ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:110,140,243...110,143,176
Ensembl chr 7:108,257,160...108,262,513 		JBrowse link
G Foxh1 forkhead box H1 ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:110,268,608...110,272,105
Ensembl chr 7:108,387,969...108,390,049 		JBrowse link
G Gfus GDP-L-fucose synthase ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:109,492,808...109,497,719
Ensembl chr 7:107,612,094...107,616,948 		JBrowse link
G Gli4 GLI family zinc finger 4 ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:109,205,812...109,211,650
Ensembl chr 7:107,325,607...107,330,907 		JBrowse link
G Gpaa1 glycosylphosphatidylinositol anchor attachment 1 ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:109,932,556...109,936,139
Ensembl chr 7:108,051,861...108,055,484 		JBrowse link
G Gpihbp1 glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1 ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:109,166,334...109,169,448
Ensembl chr 7:107,285,654...107,288,702 		JBrowse link
G Grina glutamate ionotropic receptor NMDA type subunit associated protein 1 ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:109,842,870...109,846,048
Ensembl chr 7:107,962,207...107,965,366 		JBrowse link
G Gsdmd gasdermin D ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:109,423,209...109,427,771
Ensembl chr 7:107,542,083...107,547,055 		JBrowse link
G Hgh1 HGH1 homolog ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:109,972,079...109,975,398
Ensembl chr 7:108,091,951...108,094,737 		JBrowse link
G Hsf1 heat shock transcription factor 1 ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:110,076,710...110,103,665
Ensembl chr 7:108,196,056...108,223,011 		JBrowse link
G Kifc2 kinesin family member C2 ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:110,261,257...110,269,007
Ensembl chr 7:108,376,011...108,388,484 		JBrowse link
G Maf1 MAF1 homolog, negative regulator of RNA polymerase III ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:109,955,876...109,958,909
Ensembl chr 7:108,075,189...108,078,249 		JBrowse link
G Mafa MAF bZIP transcription factor A ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:109,313,021...109,315,813
Ensembl chr 7:107,433,605...107,434,690 		JBrowse link
G Mapk15 mitogen-activated protein kinase 15 ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:109,575,619...109,595,339
Ensembl chr 7:107,694,964...107,714,645 		JBrowse link
G Mroh1 maestro heat-like repeat family member 1 ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:109,979,344...110,052,800
Ensembl chr 7:108,102,734...108,172,146 		JBrowse link
G Mroh6 maestro heat-like repeat family member 6 ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:109,448,738...109,456,034
Ensembl chr 7:107,569,554...107,574,173 		JBrowse link
G Naprt nicotinate phosphoribosyltransferase ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:109,457,328...109,460,817
Ensembl chr 7:107,576,627...107,580,102 		JBrowse link
G Nrbp2 nuclear receptor binding protein 2 ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:109,679,330...109,685,656
Ensembl chr 7:107,799,497...107,805,230 		JBrowse link
G Oplah 5-oxoprolinase (ATP-hydrolysing) ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:109,892,136...109,932,403
Ensembl chr 7:108,011,475...108,035,297 		JBrowse link
G Parp10 poly (ADP-ribose) polymerase family, member 10 ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:109,829,721...109,839,054
Ensembl chr 7:107,949,043...107,958,304 		JBrowse link
G Plec plectin ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:109,768,447...109,829,798
Ensembl chr 7:107,887,764...107,945,467 		JBrowse link
G Puf60 poly-U binding splicing factor 60 ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:109,663,490...109,674,443
Ensembl chr 7:107,782,770...107,794,531 		JBrowse link
G Pycr3 pyrroline-5-carboxylate reductase 3 ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:109,484,263...109,489,554
Ensembl chr 7:107,581,930...107,608,799 		JBrowse link
G Rhpn1 rhophilin, Rho GTPase binding protein 1 ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:109,272,676...109,283,444
Ensembl chr 7:107,391,984...107,402,713 		JBrowse link
G Scrib scribble planar cell polarity protein ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:109,640,034...109,663,354
Ensembl chr 7:107,759,343...107,782,331 		JBrowse link
G Scrt1 scratch family transcriptional repressor 1 ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:110,121,640...110,125,290
Ensembl chr 7:108,240,986...108,244,636 		JBrowse link
G Scx scleraxis bHLH transcription factor ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:110,056,897...110,059,283
Ensembl chr 7:108,176,608...108,178,626 		JBrowse link
G Sharpin SHANK-associated RH domain interactor ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:109,951,336...109,955,552
Ensembl chr 7:108,070,687...108,074,955 		JBrowse link
G Slc39a4 solute carrier family 39 member 4 ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:110,214,017...110,218,202
Ensembl chr 7:108,333,381...108,337,553 		JBrowse link
G Slc52a2 solute carrier family 52 member 2 ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 | ClinVar Annotator: match by term: Riboflavin transporter deficiency type 2 OMIM
ClinVar		 PMID:9536098 PMID:10797435 PMID:16199547 PMID:17576681 PMID:20301336 More... NCBI chr 7:110,126,632...110,146,647
Ensembl chr 7:108,262,612...108,268,034 		JBrowse link
G Spatc1 spermatogenesis and centriole associated 1 ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:109,863,794...109,888,145
Ensembl chr 7:107,983,796...108,007,479 		JBrowse link
G Tigd5 tigger transposable element derived 5 ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:109,477,438...109,479,957
Ensembl chr 7:107,596,724...107,599,243 		JBrowse link
G Tmem249 transmembrane protein 249 ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:110,137,814...110,140,081
Ensembl chr 7:108,257,160...108,262,513 		JBrowse link
G Tonsl tonsoku-like, DNA repair protein ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:110,226,696...110,241,459
Ensembl chr 7:108,346,047...108,360,750 		JBrowse link
G Top1mt DNA topoisomerase I mitochondrial ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:109,223,269...109,248,855
Ensembl chr 7:107,342,527...107,366,049 		JBrowse link
G Vps28 VPS28 subunit of ESCRT-I ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:110,222,638...110,226,486
Ensembl chr 7:108,341,989...108,345,837 		JBrowse link
G Zc3h3 zinc finger CCCH type containing 3 ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:109,321,423...109,406,241
Ensembl chr 7:107,440,694...107,525,451 		JBrowse link
G Zfp41 zinc finger protein 41 ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:109,188,010...109,198,546
Ensembl chr 7:107,306,867...107,320,270 		JBrowse link
G Zfp623 zinc finger protein 623 ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:109,508,046...109,516,965
Ensembl chr 7:107,627,267...107,636,321 		JBrowse link
G Zfp707 zinc finger protein 707 ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:109,560,298...109,567,256
Ensembl chr 7:107,650,217...107,703,459 		JBrowse link
G Zftraf1 zinc finger TRAF type containing 1 ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:110,244,634...110,258,071
Ensembl chr 7:108,364,381...108,380,021 		JBrowse link
Camptocormia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gdf3 growth differentiation factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22613031 NCBI chr 4:157,503,547...157,507,923
Ensembl chr 4:155,830,909...155,835,937 		JBrowse link
G Myh7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: Bent Spine Syndrome ClinVar PMID:12707239 PMID:23861362 PMID:24793961 PMID:25467552 PMID:25741868 More... NCBI chr15:32,416,525...32,439,851
Ensembl chr15:28,446,550...28,468,217 		JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: Bent Spine Syndrome ClinVar PMID:16621917 PMID:17452231 PMID:18546365 PMID:19189930 PMID:19578034 More... NCBI chr 1:142,792,119...142,808,933
Ensembl chr 1:133,382,766...133,398,567 		JBrowse link
G Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B ISO ClinVar Annotator: match by term: Bent Spine Syndrome ClinVar PMID:17486094 PMID:21378381 PMID:24741716 PMID:25741868 PMID:26167114 More... NCBI chr 7:70,962,008...70,993,726
Ensembl chr 7:69,078,291...69,108,633 		JBrowse link
childhood spinal muscular atrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 6:135,436,375...135,502,117
Ensembl chr 6:129,609,397...129,680,883 		JBrowse link
G Smn1 survival of motor neuron 1, telomeric ISO CTD Direct Evidence: marker/mechanism CTD PMID:17924536 NCBI chr 2:33,224,115...33,235,162
Ensembl chr 2:31,490,015...31,501,060 		JBrowse link
Congenital Arthrogryposis with Anterior Horn Cell Disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gle1 GLE1 RNA export mediator ISO ClinVar Annotator: match by term: CONGENITAL ARTHROGRYPOSIS WITH ANTERIOR HORN CELL DISEASE | ClinVar Annotator: match by term: GLE1-related condition | ClinVar Annotator: match by term: GLE1-related disorder | ClinVar Annotator: match by term: Lethal arthrogryposis with anterior horn cell disease
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:7770128 PMID:9536098 PMID:16199547 PMID:16892327 PMID:17576681 More... NCBI chr 3:33,607,160...33,638,879
Ensembl chr 3:13,209,322...13,237,379 		JBrowse link
Fazio-Londe disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc52a3 solute carrier family 52 member 3 ISO ClinVar Annotator: match by term: Childhood Progressive Bulbar Palsy | ClinVar Annotator: match by term: Progressive bulbar palsy of childhood OMIM
ClinVar		 PMID:20206331 PMID:20920669 PMID:21110228 PMID:22273710 PMID:22824638 More... NCBI chr 3:160,959,233...160,976,170
Ensembl chr 3:140,509,473...140,514,096 		JBrowse link
Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adam10 ADAM metallopeptidase domain 10 ISO ClinVar Annotator: match by term: Corticobasal syndrome ClinVar PMID:25741868 NCBI chr 8:80,226,862...80,358,728
Ensembl chr 8:71,345,837...71,477,889 		JBrowse link
G RGD1359108 similar to RIKEN cDNA 3110043O21 ISO ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis/Frontotemporal Dementia ClinVar PMID:25741868 NCBI chr 5:54,562,570...54,587,649
Ensembl chr 5:49,766,325...49,791,408 		JBrowse link
G Ttc3 tetratricopeptide repeat domain 3 ISO ClinVar Annotator: match by term: Corticobasal syndrome ClinVar PMID:25741868 NCBI chr11:47,158,766...47,258,612
Ensembl chr11:33,688,952...33,788,975 		JBrowse link
frontotemporal dementia and/or amyotrophic lateral sclerosis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamts2 ADAM metallopeptidase with thrombospondin type 1 motif, 2 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ClinVar PMID:26925868 PMID:28492532 NCBI chr10:35,422,030...35,627,483
Ensembl chr10:34,921,049...35,123,821 		JBrowse link
G Canx calnexin ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ClinVar PMID:26925868 PMID:28492532 NCBI chr10:35,124,941...35,157,954
Ensembl chr10:34,625,191...34,656,821 		JBrowse link
G Cby3 chibby family member 3 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ClinVar PMID:26925868 PMID:28492532 NCBI chr10:35,179,316...35,183,834
Ensembl chr10:34,677,770...34,682,784 		JBrowse link
G Grm6 glutamate metabotropic receptor 6 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ClinVar PMID:26925868 PMID:28492532 NCBI chr10:35,669,003...35,683,729
Ensembl chr10:35,167,985...35,182,717 		JBrowse link
G Hnrnph1 heterogeneous nuclear ribonucleoprotein H1 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ClinVar PMID:26925868 PMID:28492532 NCBI chr10:35,187,412...35,203,909
Ensembl chr10:34,693,555...34,702,846 		JBrowse link
G Ltc4s leukotriene C4 synthase ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ClinVar PMID:26925868 PMID:28492532 NCBI chr10:35,060,002...35,066,466
Ensembl chr10:34,560,360...34,562,651 		JBrowse link
G Maml1 mastermind-like transcriptional coactivator 1 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ClinVar PMID:26925868 PMID:28492532 NCBI chr10:35,089,715...35,124,100
Ensembl chr10:34,588,646...34,623,338 		JBrowse link
G Mgat4b alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase B ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ClinVar PMID:26925868 PMID:28492532 NCBI chr10:35,049,421...35,060,307
Ensembl chr10:34,549,433...34,559,229 		JBrowse link
G RGD1359108 similar to RIKEN cDNA 3110043O21 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:25741868 PMID:26769963 PMID:28492532 NCBI chr 5:54,562,570...54,587,649
Ensembl chr 5:49,766,325...49,791,408 		JBrowse link
G Rufy1 RUN and FYVE domain containing 1 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ClinVar PMID:26925868 PMID:28492532 NCBI chr10:35,206,801...35,251,696
Ensembl chr10:34,705,741...34,750,644 		JBrowse link
G Spata31d1c SPATA31 subfamily D member 1C ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ClinVar PMID:26925868 PMID:28492532 NCBI chr17:165,187...189,019
Ensembl chr17:159,398...164,270 		JBrowse link
G Sqstm1 sequestosome 1 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ClinVar PMID:9536098 PMID:11473345 PMID:11992264 PMID:12374763 PMID:14584883 More... NCBI chr10:35,026,598...35,037,750
Ensembl chr10:34,525,519...34,536,673 		JBrowse link
G Zfp354c zinc finger protein 354C ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ClinVar PMID:26925868 PMID:28492532 NCBI chr10:35,630,738...35,647,176
Ensembl chr10:35,132,959...35,145,661 		JBrowse link
G Zfp879 zinc finger protein 879 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ClinVar PMID:26925868 PMID:28492532 NCBI chr10:35,649,693...35,659,692
Ensembl chr10:35,148,679...35,158,674 		JBrowse link
frontotemporal dementia and/or amyotrophic lateral sclerosis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C20h22orf15 similar to human chromosome 22 open reading frame 15 ISO ClinVar Annotator: match by term: FTDALS2 ClinVar PMID:28492532 NCBI chr20:12,720,651...12,725,304
Ensembl chr20:12,723,160...12,726,059 		JBrowse link
G Chchd10 coiled-coil-helix-coiled-coil-helix domain containing 10 ISO ClinVar Annotator: match by term: FTDALS2 | ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:22535186 PMID:24934289 PMID:25113787 More... NCBI chr20:12,725,274...12,730,295
Ensembl chr20:12,725,842...12,732,763 		JBrowse link
frontotemporal dementia and/or amyotrophic lateral sclerosis 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sqstm1 sequestosome 1 ISO ClinVar Annotator: match by term: FTDALS3 | ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 OMIM
ClinVar		 PMID:11473345 PMID:11992264 PMID:14584883 PMID:15125799 PMID:15176995 More... NCBI chr10:35,026,598...35,037,750
Ensembl chr10:34,525,519...34,536,673 		JBrowse link
frontotemporal dementia and/or amyotrophic lateral sclerosis 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kif5a kinesin family member 5A ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ClinVar PMID:25741868 PMID:28492532 PMID:32579787 NCBI chr 7:64,937,210...64,974,339
Ensembl chr 7:63,049,424...63,092,858 		JBrowse link
G Tbk1 TANK-binding kinase 1 susceptibility ISO ClinVar Annotator: match by term: FTDALS4 | ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ClinVar
OMIM		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:21447600 PMID:22851595 More... NCBI chr 7:58,963,319...58,996,357
Ensembl chr 7:57,077,830...57,110,892 		JBrowse link
frontotemporal dementia and/or amyotrophic lateral sclerosis 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aptx aprataxin ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:60,593,338...60,618,946
Ensembl chr 5:55,800,248...55,822,855 		JBrowse link
G Aqp3 aquaporin 3 (Gill blood group) ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:61,035,165...61,040,683
Ensembl chr 5:56,239,201...56,244,720 		JBrowse link
G Aqp7 aquaporin 7 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:60,968,495...60,982,618
Ensembl chr 5:56,172,519...56,186,642 		JBrowse link
G Arhgef39 Rho guanine nucleotide exchange factor 39 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:62,548,300...62,551,870
Ensembl chr 5:57,752,509...57,756,109 		JBrowse link
G Arid3c AT-rich interaction domain 3C ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:61,685,511...61,692,821
Ensembl chr 5:56,890,042...56,895,888 		JBrowse link
G Atosb atos homolog B ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:62,056,654...62,070,338
Ensembl chr 5:57,260,841...57,268,892 		JBrowse link
G B4galt1 beta-1,4-galactosyltransferase 1 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:60,731,601...60,778,456
Ensembl chr 5:55,935,615...55,982,461 		JBrowse link
G Bag1 BAG cochaperone 1 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:60,864,476...60,877,059
Ensembl chr 5:56,068,494...56,081,075 		JBrowse link
G Car9 carbonic anhydrase 9 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:62,559,024...62,565,626
Ensembl chr 5:57,763,206...57,769,838 		JBrowse link
G Ccdc107 coiled-coil domain containing 107 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:62,545,273...62,548,711
Ensembl chr 5:57,748,999...57,752,918 		JBrowse link
G Ccin calicin ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:63,002,427...63,004,314
Ensembl chr 5:58,206,633...58,208,951 		JBrowse link
G Ccl19 C-C motif chemokine ligand 19 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:61,759,220...61,761,164
Ensembl chr 5:56,963,364...56,965,308 		JBrowse link
G Ccl21 C-C motif chemokine ligand 21 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:61,776,411...61,777,515
Ensembl chr 5:56,980,558...56,981,686 		JBrowse link
G Ccl27 C-C motif chemokine ligand 27 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:61,737,261...61,744,375
Ensembl chr 5:56,941,402...56,948,506 		JBrowse link
G Cd72 Cd72 molecule ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:62,493,155...62,500,779
Ensembl chr 5:57,697,367...57,704,725 		JBrowse link
G Chmp5 charged multivesicular body protein 5 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:60,877,369...60,894,512
Ensembl chr 5:56,081,343...56,098,529 		JBrowse link
G Cimip2b ciliary microtubule inner protein 2B ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:62,471,246...62,477,812
Ensembl chr 5:57,675,462...57,678,611 		JBrowse link
G Clta clathrin, light chain A ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:63,022,046...63,059,223
Ensembl chr 5:58,245,442...58,263,472 		JBrowse link
G Cntfr ciliary neurotrophic factor receptor ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:61,619,326...61,657,359
Ensembl chr 5:56,823,965...56,841,392 		JBrowse link
G Creb3 cAMP responsive element binding protein 3 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:62,613,652...62,619,019
Ensembl chr 5:57,817,832...57,824,390 		JBrowse link
G Dcaf12 DDB1 and CUL4 associated factor 12 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:61,256,353...61,278,155
Ensembl chr 5:56,461,006...56,482,456 		JBrowse link
G Dctn3 dynactin subunit 3 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:61,676,950...61,684,958
Ensembl chr 5:56,881,085...56,889,102 		JBrowse link
G Dnai1 dynein, axonemal, intermediate chain 1 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:61,526,079...61,596,806
Ensembl chr 5:56,730,179...56,800,925 		JBrowse link
G Dnaja1 DnaJ heat shock protein family (Hsp40) member A1 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:60,638,404...60,649,315
Ensembl chr 5:55,842,426...55,853,967 		JBrowse link
G Dnajb5 DnaJ heat shock protein family (Hsp40) member B5 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:61,972,637...61,981,887
Ensembl chr 5:57,176,845...57,185,490 		JBrowse link
G Enho energy homeostasis associated ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:61,596,860...61,598,657
Ensembl chr 5:56,800,980...56,802,777 		JBrowse link
G Exosc3 exosome component 3 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:64,369,495...64,374,711
Ensembl chr 5:59,573,886...59,579,060 		JBrowse link
G Fam219a family with sequence similarity 219, member A ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:61,475,185...61,525,749
Ensembl chr 5:56,680,613...56,729,924 		JBrowse link
G Fam221b family with sequence similarity 221, member B ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:62,706,118...62,715,339
Ensembl chr 5:57,910,352...57,919,367 		JBrowse link
G Fancg FA complementation group G ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:62,027,494...62,037,202
Ensembl chr 5:57,231,685...57,240,029 		JBrowse link
G Fbxo10 F-box protein 10 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:64,092,709...64,139,054
Ensembl chr 5:59,297,045...59,343,348 		JBrowse link
G Frmpd1 FERM and PDZ domain containing 1 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:64,238,730...64,340,778
Ensembl chr 5:59,443,076...59,545,080 		JBrowse link
G Galt galactose-1-phosphate uridylyltransferase ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:61,722,871...61,726,128
Ensembl chr 5:56,926,724...56,930,265 		JBrowse link
G Gba2 glucosylceramidase beta 2 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:62,618,176...62,630,160
Ensembl chr 5:57,822,389...57,834,072 		JBrowse link
G Glipr2 GLI pathogenesis-related 2 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:62,966,163...62,998,016
Ensembl chr 5:58,170,425...58,202,272 		JBrowse link
G Gne glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:63,062,953...63,103,320
Ensembl chr 5:58,267,210...58,307,499 		JBrowse link
G Grhpr glyoxylate and hydroxypyruvate reductase ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:64,029,856...64,039,287
Ensembl chr 5:59,234,192...59,243,603 		JBrowse link
G Hint2 histidine triad nucleotide binding protein 2 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:62,700,383...62,702,638
Ensembl chr 5:57,904,614...57,907,097 		JBrowse link
G Hrct1 histidine rich carboxyl terminus 1 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:62,778,112...62,778,954
Ensembl chr 5:57,982,470...57,982,790 		JBrowse link
G Il11ra1 interleukin 11 receptor subunit alpha 1 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:61,727,650...61,737,265
Ensembl chr 5:56,935,516...56,941,408 		JBrowse link
G Kif24 kinesin family member 24 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:61,357,078...61,423,882
Ensembl chr 5:56,561,154...56,628,025 		JBrowse link
G Melk maternal embryonic leucine zipper kinase ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:63,336,151...63,396,254
Ensembl chr 5:58,540,449...58,600,937 		JBrowse link
G Msmp microseminoprotein, prostate associated ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:62,634,721...62,635,771
Ensembl chr 5:57,838,935...57,839,985 		JBrowse link
G Myorg myogenesis regulating glycosidase ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:61,452,956...61,460,500
Ensembl chr 5:56,648,643...56,664,440 		JBrowse link
G Ndufb6 NADH:ubiquinone oxidoreductase subunit B6 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:60,196,585...60,206,152
Ensembl chr 5:55,400,543...55,410,181 		JBrowse link
G Nfx1 nuclear transcription factor, X-box binding 1 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:60,900,140...60,958,889
Ensembl chr 5:56,105,234...56,162,912 		JBrowse link
G Nol6 nucleolar protein 6 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:61,055,863...61,083,249
Ensembl chr 5:56,260,830...56,270,336 		JBrowse link
G Npr2 natriuretic peptide receptor 2 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:62,678,197...62,697,360
Ensembl chr 5:57,883,171...57,901,580 		JBrowse link
G Nudt2 nudix hydrolase 2 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:61,424,176...61,439,018
Ensembl chr 5:56,628,265...56,643,104 		JBrowse link
G Or13c7 olfactory receptor family 13 subfamily C member 7 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:62,876,908...62,877,867
Ensembl chr 5:58,077,726...58,083,852 		JBrowse link
G Or13j1 olfactory receptor family 13 subfamily J member 1 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:62,757,159...62,758,097
Ensembl chr 5:57,960,219...57,965,853 		JBrowse link
G Pax5 paired box 5 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:63,554,784...63,741,380
Ensembl chr 5:58,765,036...58,944,326 		JBrowse link
G Phf24 PHD finger protein 24 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:61,939,261...61,966,879
Ensembl chr 5:57,142,632...57,168,497 		JBrowse link
G Pigo phosphatidylinositol glycan anchor biosynthesis, class O ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:62,040,979...62,052,067
Ensembl chr 5:57,245,166...57,254,146 		JBrowse link
G Polr1e RNA polymerase I subunit E ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:64,075,123...64,090,900
Ensembl chr 5:59,279,460...59,295,369 		JBrowse link
G Prss3 serine protease 3 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 4:71,169,749...71,173,223
Ensembl chr 4:70,203,088...70,206,562 		JBrowse link
G Reck reversion-inducing-cysteine-rich protein with kazal motifs ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:62,898,717...62,965,274
Ensembl chr 5:58,102,981...58,169,502 		JBrowse link
G Rgp1 RGP1 homolog, RAB6A GEF complex partner 1 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:62,630,253...62,638,872
Ensembl chr 5:57,834,629...57,843,086 		JBrowse link
G Rig1 RNA sensor RIG-1 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:60,117,398...60,165,995
Ensembl chr 5:55,321,235...55,370,819 		JBrowse link
G Rnf38 ring finger protein 38 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:63,154,507...63,263,138
Ensembl chr 5:58,361,976...58,467,446 		JBrowse link
G Rpp25l ribonuclease P/MRP subunit p25 like ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:61,674,299...61,675,844
Ensembl chr 5:56,876,316...56,880,013 		JBrowse link
G Rusc2 RUN and SH3 domain containing 2 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:62,424,185...62,471,317
Ensembl chr 5:57,629,904...57,675,524 		JBrowse link
G Sigmar1 sigma non-opioid intracellular receptor 1 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:61,700,021...61,702,799
Ensembl chr 5:56,904,159...56,907,017 		JBrowse link
G Sit1 signaling threshold regulating transmembrane adaptor 1 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:62,536,003...62,538,230
Ensembl chr 5:57,740,218...57,741,838 		JBrowse link
G Smu1 SMU1, DNA replication regulator and spliceosomal factor ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:60,652,680...60,671,251
Ensembl chr 5:55,856,246...55,875,300 		JBrowse link
G Spag8 sperm associated antigen 8 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:62,697,451...62,699,664
Ensembl chr 5:57,901,682...57,903,894 		JBrowse link
G Spata31f1 SPATA31 subfamily F member 1 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:61,861,587...61,867,724
Ensembl chr 5:57,065,747...57,071,738 		JBrowse link
G Spata31g1 SPATA31 subfamily G member 1 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:61,995,800...61,999,889
Ensembl chr 5:57,200,000...57,204,070 		JBrowse link
G Spink4 serine peptidase inhibitor, Kazal type 4 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:60,811,899...60,860,823
Ensembl chr 5:55,981,624...56,064,795 		JBrowse link
G Spmip6 sperm microtubule inner protein 6 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:61,462,070...61,474,832
Ensembl chr 5:56,666,058...56,678,923 		JBrowse link
G Stoml2 stomatin like 2 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:62,052,042...62,055,639
Ensembl chr 5:57,256,220...57,259,920 		JBrowse link
G Tesk1 testis associated actin remodelling kinase 1 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:62,487,763...62,493,492
Ensembl chr 5:57,691,969...57,697,698 		JBrowse link
G Tln1 talin 1 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:62,583,730...62,613,687
Ensembl chr 5:57,787,943...57,817,900 		JBrowse link
G Tmem215 transmembrane protein 215 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:60,408,587...60,411,841
Ensembl chr 5:55,612,568...55,615,828 		JBrowse link
G Tmem8b transmembrane protein 8B ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:62,715,238...62,744,187
Ensembl chr 5:57,919,804...57,946,772 		JBrowse link
G Tomm5 translocase of outer mitochondrial membrane 5 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:64,158,026...64,160,857
Ensembl chr 5:59,362,240...59,365,269 		JBrowse link
G Topors TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:60,184,076...60,195,979
Ensembl chr 5:55,387,632...55,399,937 		JBrowse link
G Tpm2 tropomyosin 2 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:62,566,712...62,576,066
Ensembl chr 5:57,770,864...57,779,992 		JBrowse link
G Trmt10b tRNA methyltransferase 10B ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:64,344,491...64,368,175
Ensembl chr 5:59,548,869...59,572,526 		JBrowse link
G Ubap1 ubiquitin-associated protein 1 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:61,316,650...61,357,077
Ensembl chr 5:56,520,743...56,561,152 		JBrowse link
G Ubap2 ubiquitin-associated protein 2 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:61,144,182...61,233,355
Ensembl chr 5:56,348,246...56,437,049 		JBrowse link
G Ube2r2 ubiquitin-conjugating enzyme E2R 2 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:61,082,552...61,141,099
Ensembl chr 5:56,286,725...56,345,513 		JBrowse link
G Unc13b unc-13 homolog B ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:62,084,809...62,299,884
Ensembl chr 5:57,289,227...57,502,926 		JBrowse link
G Vcp valosin-containing protein ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia | ClinVar Annotator: match by term: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 6 | ClinVar Annotator: match by term: FRONTOTEMPORAL DEMENTIA WITHOUT AMYOTROPHIC LATERAL SCLEROSIS 6, WITH NEUROFIBRILLARY TANGLES | ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 OMIM
ClinVar		 PMID:7182974 PMID:9536098 PMID:12446676 PMID:15034582 PMID:16199547 More... NCBI chr 5:62,005,984...62,025,387
Ensembl chr 5:57,210,168...57,229,571 		JBrowse link
G Zbtb5 zinc finger and BTB domain containing 5 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:64,039,805...64,062,451
Ensembl chr 5:59,243,307...59,265,426 		JBrowse link
G Zcchc7 zinc finger CCHC-type containing 7 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:63,787,292...63,968,960
Ensembl chr 5:58,993,290...59,173,300 		JBrowse link
frontotemporal dementia and/or amyotrophic lateral sclerosis 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chmp2b charged multivesicular body protein 2B ISO ClinVar Annotator: match by term: CHMP2B-related condition | ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 OMIM
ClinVar		 PMID:9536098 PMID:16041373 PMID:16431024 PMID:16807408 PMID:16941655 More... NCBI chr11:16,783,971...16,810,500
Ensembl chr11:3,337,494...3,385,181 		JBrowse link
G Pou1f1 POU class 1 homeobox 1 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 ClinVar PMID:25741868 PMID:28492532 NCBI chr11:16,763,312...16,781,295
Ensembl chr11:3,317,058...3,334,801 		JBrowse link
Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis-5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccnf cyclin F ISO ClinVar Annotator: match by term: CCNF-related condition | ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 5 OMIM
ClinVar		 PMID:25741868 PMID:27080313 PMID:28281833 PMID:28492532 PMID:31577344 NCBI chr10:13,757,884...13,783,669
Ensembl chr10:13,253,380...13,279,101 		JBrowse link
Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis-8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyld CYLD lysine 63 deubiquitinase ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 OMIM
ClinVar		 PMID:10835629 PMID:19462465 PMID:23338750 PMID:24728327 PMID:25741868 More... NCBI chr19:34,487,491...34,547,311
Ensembl chr19:18,314,019...18,373,658 		JBrowse link
intermediate spinal muscular atrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smn1 survival of motor neuron 1, telomeric ISO ClinVar Annotator: match by term: Spinal muscular atrophy, type II OMIM
ClinVar		 PMID:9158159 PMID:9590291 PMID:9818944 PMID:9837824 PMID:10205265 More... NCBI chr 2:33,224,115...33,235,162
Ensembl chr 2:31,490,015...31,501,060 		JBrowse link
Juvenile Amyotrophic Lateral Sclerosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Als2 alsin Rho guanine nucleotide exchange factor ALS2 ISO ClinVar Annotator: match by term: ALS, JUVENILE | ClinVar Annotator: match by term: Juvenile amyotrophic lateral sclerosis ClinVar PMID:2328408 PMID:7920663 PMID:9536098 PMID:11586297 PMID:11586298 More... NCBI chr 9:68,107,310...68,180,192
Ensembl chr 9:60,613,167...60,670,737 		JBrowse link
G Erlin1 ER lipid raft associated 1 ISO ClinVar Annotator: match by term: Juvenile amyotrophic lateral sclerosis ClinVar PMID:25741868 NCBI chr 1:252,870,356...252,905,681
Ensembl chr 1:242,921,152...242,956,394 		JBrowse link
G Fus Fus RNA binding protein ISO ClinVar Annotator: match by term: Juvenile amyotrophic lateral sclerosis ClinVar PMID:19251627 PMID:19450904 PMID:20579074 PMID:20606625 PMID:20668261 More... NCBI chr 1:192,007,011...192,020,887
Ensembl chr 1:182,576,545...182,590,414 		JBrowse link
G Plekhg5 pleckstrin homology and RhoGEF domain containing G5 ISO ClinVar Annotator: match by term: Juvenile amyotrophic lateral sclerosis ClinVar PMID:25741868 NCBI chr 5:167,860,730...167,904,229
Ensembl chr 5:162,578,071...162,621,513 		JBrowse link
G Syne1 spectrin repeat containing nuclear envelope protein 1 ISO ClinVar Annotator: match by term: Juvenile amyotrophic lateral sclerosis ClinVar PMID:25741868 NCBI chr 1:43,917,640...44,388,802
Ensembl chr 1:41,512,030...41,983,322 		JBrowse link
G Trpm7 transient receptor potential cation channel, subfamily M, member 7 ISO ClinVar Annotator: match by term: Juvenile amyotrophic lateral sclerosis ClinVar PMID:16051700 PMID:19405049 PMID:25741868 NCBI chr 3:134,499,617...134,588,113
Ensembl chr 3:114,046,258...114,135,190 		JBrowse link
G Vrk1 VRK serine/threonine kinase 1 ISO ClinVar Annotator: match by term: Juvenile amyotrophic lateral sclerosis ClinVar PMID:25741868 PMID:26583493 PMID:26633545 PMID:28492532 PMID:31167812 More... NCBI chr 6:130,679,400...130,746,089
Ensembl chr 6:124,914,855...124,981,436 		JBrowse link
juvenile amyotrophic lateral sclerosis type 27 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sptlc1 serine palmitoyltransferase, long chain base subunit 1 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 27, juvenile | ClinVar Annotator: match by term: SPTLC1-related condition OMIM
ClinVar		 PMID:8673084 PMID:11242114 PMID:11781309 PMID:19132419 PMID:19651702 More... NCBI chr17:12,029,189...12,068,234
Ensembl chr17:11,877,249...11,916,295 		JBrowse link
juvenile spinal muscular atrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smn1 survival of motor neuron 1, telomeric ISO
ISS		 ClinVar Annotator: match by term: Kugelberg-Welander disease
OMIM:253400		 OMIM
ClinVar
MouseDO		 PMID:9158159 PMID:9199562 PMID:9590291 PMID:9668169 PMID:9818944 More... NCBI chr 2:33,224,115...33,235,162
Ensembl chr 2:31,490,015...31,501,060 		JBrowse link
Kennedy's disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ar androgen receptor treatment ISO DNA:mutation,repeats:cds:
ClinVar Annotator: match by term: Bulbospinal neuronopathy X-linked recessive | ClinVar Annotator: match by term: Kennedy disease
CTD Direct Evidence: marker/mechanism
DNA:repeats:exon		 OMIM
ClinVar
CTD
RGD		 PMID:2594783 PMID:9544375 PMID:10852459 PMID:16804045 PMID:17970778 More... RGD:734599, RGD:11576241, RGD:11576229 NCBI chr  X:67,135,317...67,304,476
Ensembl chr  X:63,104,771...63,273,925 		JBrowse link
G Gdnf glial cell derived neurotrophic factor ISO mRNA:increased expression:skeletal muscle RGD PMID:10447463 RGD:6218978 NCBI chr 2:58,621,327...58,647,242
Ensembl chr 2:56,895,010...56,917,209 		JBrowse link
Monomelic Amyotrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arpp21 cAMP regulated phosphoprotein 21 ISO ClinVar Annotator: match by term: Monomelic amyotrophy ClinVar NCBI chr 8:120,912,964...121,077,586
Ensembl chr 8:112,034,642...112,194,297 		JBrowse link
G Ryr3 ryanodine receptor 3 ISO ClinVar Annotator: match by term: Monomelic amyotrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:119,886,129...120,433,465
Ensembl chr 3:99,432,505...99,704,961 		JBrowse link
G Slit1 slit guidance ligand 1 ISO ClinVar Annotator: match by term: Monomelic amyotrophy ClinVar NCBI chr 1:250,358,917...250,507,476
Ensembl chr 1:240,409,561...240,558,127 		JBrowse link
neurogenic scapuloperoneal syndrome Kaeser type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Des desmin ISO ClinVar Annotator: match by term: Neurogenic scapuloperoneal syndrome, Kaeser type | ClinVar Annotator: match by term: Scapuloperoneal syndrome, neurogenic type, of Kaeser
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:5828910 PMID:9536098 PMID:9697706 PMID:10717012 PMID:10905661 More... NCBI chr 9:84,299,626...84,307,344
Ensembl chr 9:76,850,982...76,858,699 		JBrowse link
poliomyelitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pvr PVR cell adhesion molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:3020560 PMID:28446605 NCBI chr 1:88,689,235...88,704,641
Ensembl chr 1:79,546,879...79,576,715 		JBrowse link
Primary Lateral Sclerosis Juvenile term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Als2 alsin Rho guanine nucleotide exchange factor ALS2 ISO ClinVar Annotator: match by term: Juvenile primary lateral sclerosis | ClinVar Annotator: match by term: PLS juvenile
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:11586297 PMID:11586298 PMID:14676054 PMID:16240357 PMID:19122027 More... NCBI chr 9:68,107,310...68,180,192
Ensembl chr 9:60,613,167...60,670,737 		JBrowse link
progressive bulbar palsy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacna1a calcium voltage-gated channel subunit alpha1 A ISO ClinVar Annotator: match by term: Bulbar palsy ClinVar PMID:10371528 PMID:12420090 PMID:19486177 PMID:20129625 PMID:20396531 More... NCBI chr19:40,425,560...40,724,810
Ensembl chr19:23,520,741...23,823,225 		JBrowse link
G Slc52a3 solute carrier family 52 member 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:160,959,233...160,976,170
Ensembl chr 3:140,509,473...140,514,096 		JBrowse link
Progressive Encephalopathy with Amyotrophy and Optic Atrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B3galnt2 beta-1,3-N-acetylgalactosaminyltransferase 2 ISO ClinVar Annotator: match by term: Encephalopathy, progressive, with amyotrophy and optic atrophy ClinVar PMID:25741868 NCBI chr17:56,030,409...56,072,952
Ensembl chr17:51,334,921...51,377,469 		JBrowse link
G Tbce tubulin folding cofactor E ISO ClinVar Annotator: match by term: Encephalopathy, progressive, with amyotrophy and optic atrophy OMIM
ClinVar		 PMID:12389028 PMID:16199547 PMID:20152369 PMID:25097779 PMID:25741868 More... NCBI chr17:55,983,627...56,031,578
Ensembl chr17:51,290,202...51,336,089 		JBrowse link
progressive muscular atrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Capn3 calpain 3 ISO ClinVar Annotator: match by term: Progressive spinal muscular atrophy ClinVar PMID:7720071 PMID:9266733 PMID:10330340 PMID:10679950 PMID:14578192 More... NCBI chr 3:127,860,002...127,913,677
Ensembl chr 3:107,407,850...107,457,858 		JBrowse link
G Sec24a SEC24 homolog A, COPII coat complex component ISO ClinVar Annotator: match by term: Progressive spinal muscular atrophy ClinVar PMID:25741868 NCBI chr10:36,450,043...36,525,303
Ensembl chr10:35,947,031...36,024,353 		JBrowse link
scapuloperoneal spinal muscular atrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trpv4 transient receptor potential cation channel, subfamily V, member 4 ISO ClinVar Annotator: match by term: AMYOTROPHY, NEUROGENIC SCAPULOPERONEAL, NEW ENGLAND TYPE | ClinVar Annotator: match by term: Amyotrophy, neurogenic scapuloperoneal, New England type | ClinVar Annotator: match by term: Scapuloperoneal Form of Spinal Muscular Atrophy | ClinVar Annotator: match by term: Scapuloperoneal spinal muscular atrophy OMIM
ClinVar		 PMID:1520078 PMID:4056805 PMID:8179305 PMID:15668982 PMID:19661060 More... NCBI chr12:47,599,161...47,638,143
Ensembl chr12:41,938,560...41,977,517 		JBrowse link
spinal muscular atrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aars1 alanyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy ClinVar PMID:28492532 NCBI chr19:55,906,694...55,930,499
Ensembl chr19:38,999,163...39,021,147 		JBrowse link
G Ankrd1 ankyrin repeat domain 1 ISO RGD PMID:14516314 RGD:1578366 NCBI chr 1:243,228,460...243,237,014
Ensembl chr 1:233,815,851...233,834,919 		JBrowse link
G Ar androgen receptor ISO RGD PMID:10400640 RGD:1578680 NCBI chr  X:67,135,317...67,304,476
Ensembl chr  X:63,104,771...63,273,925 		JBrowse link
G Bicd2 BICD cargo adaptor 2 ISO ClinVar Annotator: match by term: Spinal muscular atrophy ClinVar PMID:8114789 PMID:22628388 PMID:23664116 PMID:23664119 PMID:23664120 More... NCBI chr17:15,449,011...15,511,423
Ensembl chr17:15,259,773...15,304,889 		JBrowse link
G Dctn1 dynactin subunit 1 ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy ClinVar PMID:28492532 NCBI chr 4:117,228,722...117,261,528
Ensembl chr 4:115,661,638...115,703,815 		JBrowse link
G Dpp6 dipeptidyl peptidase like 6 susceptibility ISO DNA:SNP:intron: (rs10260404) (human) RGD PMID:19332697 RGD:5687182 NCBI chr 4:8,323,220...9,242,694
Ensembl chr 4:7,591,009...8,508,532 		JBrowse link
G Dst dystonin ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy ClinVar PMID:16199547 PMID:25059916 PMID:28492532 NCBI chr 9:43,631,716...44,025,535
Ensembl chr 9:36,135,284...36,529,615 		JBrowse link
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy | ClinVar Annotator: match by term: Spinal muscular atrophy ClinVar PMID:25512093 PMID:28492532 NCBI chr 6:135,436,375...135,502,117
Ensembl chr 6:129,609,397...129,680,883 		JBrowse link
G Etfdh electron transfer flavoprotein dehydrogenase ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy ClinVar NCBI chr 2:167,038,707...167,060,758
Ensembl chr 2:164,729,749...164,762,745 		JBrowse link
G Fbln5 fibulin 5 ISO ClinVar Annotator: match by term: Proximal spinal muscular atrophy ClinVar NCBI chr 6:126,664,100...126,742,847
Ensembl chr 6:120,899,224...120,977,755 		JBrowse link
G Fbxo38 F-box protein 38 ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy ClinVar PMID:28492532 NCBI chr18:58,227,253...58,274,320
Ensembl chr18:55,956,959...56,003,961 		JBrowse link
G Fus Fus RNA binding protein ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy ClinVar NCBI chr 1:192,007,011...192,020,887
Ensembl chr 1:182,576,545...182,590,414 		JBrowse link
G Gars1 glycyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy
ClinVar Annotator: match by term: Distal spinal muscular atrophy | ClinVar Annotator: match by term: Spinal muscular atrophy		 ClinVar PMID:12690580 PMID:16014653 PMID:16534118 PMID:16769947 PMID:17035524 More... NCBI chr 4:85,484,939...85,542,876
Ensembl chr 4:84,171,596...84,212,609 		JBrowse link
G Hdac4 histone deacetylase 4 ISO mRNA:increased expression:muscle: RGD PMID:22798624 RGD:9681458 NCBI chr 9:99,950,972...100,200,994
Ensembl chr 9:92,507,611...92,750,164 		JBrowse link
G Hexb hexosaminidase subunit beta ISO RGD PMID:1720305 RGD:1599424 NCBI chr 2:30,218,608...30,238,771
Ensembl chr 2:28,484,012...28,504,223 		JBrowse link
G Hspb1 heat shock protein family B (small) member 1 ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy ClinVar NCBI chr12:26,430,640...26,432,301
Ensembl chr12:20,794,028...20,795,743 		JBrowse link
G Hspb3 heat shock protein family B (small) member 3 ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy ClinVar PMID:25741868 NCBI chr 2:47,028,451...47,029,165
Ensembl chr 2:45,295,053...45,296,145 		JBrowse link
G Ighmbp2 immunoglobulin mu DNA binding protein 2 ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy | ClinVar Annotator: match by term: Spinal muscular atrophy ClinVar PMID:14506069 PMID:14681881 PMID:15108294 PMID:15290238 PMID:16199547 More... NCBI chr 1:209,935,922...209,958,570
Ensembl chr 1:200,506,338...200,529,514 		JBrowse link
G Kcnb1 potassium voltage-gated channel subfamily B member 1 ISO protein:decreased expression:second lumbar spinal cord segment, motor neuron, neuronal cell body (mouse) RGD PMID:28504671 RGD:126908005 NCBI chr 3:176,239,285...176,332,408
Ensembl chr 3:155,822,963...155,916,194 		JBrowse link
G Litaf lipopolysaccharide-induced TNF factor ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy ClinVar NCBI chr10:5,163,258...5,199,930
Ensembl chr10:4,625,552...4,692,763 		JBrowse link
G Mars1 methionyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy ClinVar PMID:28492532 NCBI chr 7:65,006,456...65,023,880
Ensembl chr 7:63,121,142...63,138,495 		JBrowse link
G Morc2 MORC family CW-type zinc finger 2 ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy ClinVar PMID:7964809 PMID:12601114 PMID:25741868 PMID:26497905 PMID:26659848 More... NCBI chr14:82,752,444...82,794,980
Ensembl chr14:78,527,009...78,571,343 		JBrowse link
G Nefl neurofilament light chain ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy ClinVar NCBI chr15:46,477,330...46,481,203
Ensembl chr15:42,301,916...42,305,793 		JBrowse link
G Pecam1 platelet and endothelial cell adhesion molecule 1 ISO protein:decreased expression:levator auris longus, transversus abdominis (mouse) RGD PMID:22153987 RGD:6767297 NCBI chr10:92,090,263...92,152,002
Ensembl chr10:91,590,521...91,652,116 		JBrowse link
G Plekhg5 pleckstrin homology and RhoGEF domain containing G5 ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 NCBI chr 5:167,860,730...167,904,229
Ensembl chr 5:162,578,071...162,621,513 		JBrowse link
G Pmp22 peripheral myelin protein 22 ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr10:48,294,932...48,324,941
Ensembl chr10:47,795,709...47,825,714 		JBrowse link
G Prx periaxin ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy ClinVar PMID:28492532 NCBI chr 1:91,912,669...91,934,754
Ensembl chr 1:82,786,815...82,807,407 		JBrowse link
G Setx senataxin ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy | ClinVar Annotator: match by term: Proximal spinal muscular atrophy ClinVar PMID:9467005 PMID:9497266 PMID:15106121 PMID:21438761 PMID:21494555 More... NCBI chr 3:32,825,771...32,878,740
Ensembl chr 3:12,427,635...12,480,803 		JBrowse link
G Sh3tc2 SH3 domain and tetratricopeptide repeats 2 ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy ClinVar PMID:16199547 PMID:20220177 PMID:25614874 PMID:25741868 PMID:27068304 More... NCBI chr18:57,686,701...57,747,735
Ensembl chr18:55,416,413...55,483,083 		JBrowse link
G Slc5a7 solute carrier family 5 member 7 ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy ClinVar PMID:28492532 NCBI chr 9:7,922,693...7,953,509
Ensembl chr 9:7,595,444...7,626,258 		JBrowse link
G Smn1 survival of motor neuron 1, telomeric ISO DNA:mutations:multiple (human)
ClinVar Annotator: match by term: Spinal muscular atrophy
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:7813012 PMID:9536098 PMID:9590291 PMID:10205265 PMID:10500148 More... RGD:9831153 NCBI chr 2:33,224,115...33,235,162
Ensembl chr 2:31,490,015...31,501,060 		JBrowse link
G Sptan1 spectrin, alpha, non-erythrocytic 1 ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy ClinVar PMID:25741868 PMID:28492532 PMID:30548380 PMID:31332438 PMID:32811770 More... NCBI chr 3:33,639,020...33,703,890
Ensembl chr 3:13,241,217...13,306,046 		JBrowse link
G Sv2a synaptic vesicle glycoprotein 2a ISO protein:decreased expression:transversus abdominis muscle, axon terminus (mouse) RGD PMID:28173138 RGD:11535337 NCBI chr 2:186,430,363...186,446,161
Ensembl chr 2:183,741,547...183,756,927 		JBrowse link
G Sv2b synaptic vesicle glycoprotein 2b ISO protein:decreased expression:multiple (mouse) RGD PMID:28173138 RGD:11535337 NCBI chr 1:138,388,268...138,562,635
Ensembl chr 1:128,978,473...129,152,479 		JBrowse link
G Sv2c synaptic vesicle glycoprotein 2c ISO protein:decreased expression:transversus abdominis muscle, axon terminus (mouse) RGD PMID:28173138 RGD:11535337 NCBI chr 2:28,967,631...29,163,168
Ensembl chr 2:27,232,933...27,428,477 		JBrowse link
G Syt2 synaptotagmin 2 ISO protein:decreased expression:multiple (mouse) RGD PMID:28173138 RGD:11535337 NCBI chr13:48,639,634...48,749,814
Ensembl chr13:46,185,282...46,193,859 		JBrowse link
G Tdrkh tudor and KH domain containing ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy ClinVar PMID:30503856 NCBI chr 2:184,736,255...184,760,534
Ensembl chr 2:182,049,215...182,070,755 		JBrowse link
G Tll2 tolloid-like 2 ISO ClinVar Annotator: match by term: Spinal muscular atrophy ClinVar PMID:25741868 NCBI chr 1:249,862,050...249,977,566
Ensembl chr 1:239,915,508...240,028,120 		JBrowse link
G Tnfrsf25 TNF receptor superfamily member 25 ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy ClinVar NCBI chr 5:167,904,377...167,909,052
Ensembl chr 5:162,622,075...162,626,341 		JBrowse link
G Trpv4 transient receptor potential cation channel, subfamily V, member 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Distal spinal muscular atrophy		 CTD
ClinVar		 PMID:20037586 PMID:20037587 PMID:20037588 PMID:20460441 PMID:21336783 More... NCBI chr12:47,599,161...47,638,143
Ensembl chr12:41,938,560...41,977,517 		JBrowse link
G Tymp thymidine phosphorylase ISO ClinVar Annotator: match by term: Spinal muscular atrophy ClinVar PMID:2005900 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 7:122,318,396...122,323,716
Ensembl chr 7:120,438,770...120,443,874
Ensembl chr 7:120,438,770...120,443,874 		JBrowse link
G Vapb VAMP associated protein B and C onset ISO DNA:missense mutation:cds:p.P56S (human)
ClinVar Annotator: match by term: Spinal Muscular Atrophy, Dominant		 ClinVar
RGD		 PMID:15372378 RGD:5688230 NCBI chr 3:182,954,247...182,997,018
Ensembl chr 3:162,535,905...162,573,763 		JBrowse link
G Vrk1 VRK serine/threonine kinase 1 ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy ClinVar PMID:18414213 PMID:25741868 PMID:27281532 PMID:28492532 PMID:31090908 More... NCBI chr 6:130,679,400...130,746,089
Ensembl chr 6:124,914,855...124,981,436 		JBrowse link
Spinal Muscular Atrophy with Congenital Bone Fractures 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trip4 thyroid hormone receptor interactor 4 ISO ClinVar Annotator: match by term: Spinal muscular atrophy with congenital bone fractures 1 | ClinVar Annotator: match by term: TRIP4-related condition OMIM
ClinVar		 PMID:16199547 PMID:25741868 PMID:26924529 PMID:27008887 PMID:28492532 More... NCBI chr 8:75,248,352...75,334,802
Ensembl chr 8:66,353,248...66,439,774 		JBrowse link
Spinal Muscular Atrophy with Congenital Bone Fractures 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ascc1 activating signal cointegrator 1 complex subunit 1 ISO ClinVar Annotator: match by term: Spinal muscular atrophy with congenital bone fractures 2 OMIM
ClinVar		 PMID:8677029 PMID:16199547 PMID:21791690 PMID:25741868 PMID:26924529 More... NCBI chr20:28,484,044...28,574,195
Ensembl chr20:27,941,283...28,031,272 		JBrowse link
spinal muscular atrophy with lower extremity predominant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bicd2 BICD cargo adaptor 2 ISO ClinVar Annotator: match by term: Spinal muscular atrophy with lower extremity predominance ClinVar PMID:29274205 PMID:33547725 PMID:35627109 NCBI chr17:15,449,011...15,511,423
Ensembl chr17:15,259,773...15,304,889 		JBrowse link
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Spinal muscular atrophy with lower extremity predominance ClinVar PMID:22368300 PMID:23664120 PMID:25512093 PMID:25609763 PMID:25741868 More... NCBI chr 6:135,436,375...135,502,117
Ensembl chr 6:129,609,397...129,680,883 		JBrowse link
spinal muscular atrophy with lower extremity predominant 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bicd2 BICD cargo adaptor 2 ISO ClinVar Annotator: match by term: Spinal muscular atrophy, lower extremity predominant 1, autosomal dominant ClinVar PMID:28492532 NCBI chr17:15,449,011...15,511,423
Ensembl chr17:15,259,773...15,304,889 		JBrowse link
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: SPINAL MUSCULAR ATROPHY, CHILDHOOD, PROXIMAL, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Spinal muscular atrophy, lower extremity predominant 1, autosomal dominant OMIM
ClinVar		 PMID:9536098 PMID:10862709 PMID:12730604 PMID:16565160 PMID:17576681 More... NCBI chr 6:135,436,375...135,502,117
Ensembl chr 6:129,609,397...129,680,883 		JBrowse link
spinal muscular atrophy with lower extremity predominant 2A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aspn asporin ISO ClinVar Annotator: match by term: Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant ClinVar PMID:28492532 NCBI chr17:15,286,338...15,310,567
Ensembl chr17:15,080,639...15,104,041 		JBrowse link
G Bicd2 BICD cargo adaptor 2 ISO ClinVar Annotator: match by term: SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2A, CHILDHOOD ONSET, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant OMIM
ClinVar		 PMID:7887410 PMID:8114789 PMID:8981948 PMID:9536098 PMID:9713859 More... NCBI chr17:15,449,011...15,511,423
Ensembl chr17:15,259,773...15,304,889 		JBrowse link
G Cenpp centromere protein P ISO ClinVar Annotator: match by term: Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant ClinVar PMID:28492532 NCBI chr17:15,220,521...15,395,741
Ensembl chr17:15,014,058...15,189,304 		JBrowse link
G Ecm2 extracellular matrix protein 2 ISO ClinVar Annotator: match by term: Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant ClinVar PMID:28492532 NCBI chr17:15,326,359...15,358,938
Ensembl chr17:15,120,196...15,152,516 		JBrowse link
G Iars1 isoleucyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant ClinVar PMID:28492532 NCBI chr17:15,147,357...15,193,716
Ensembl chr17:14,940,924...14,987,237 		JBrowse link
G Ippk inositol-pentakisphosphate 2-kinase ISO ClinVar Annotator: match by term: Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant ClinVar PMID:28492532 NCBI chr17:15,396,691...15,441,648
Ensembl chr17:15,190,265...15,229,541 		JBrowse link
G Nol8 nucleolar protein 8 ISO ClinVar Annotator: match by term: Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant ClinVar PMID:28492532 NCBI chr17:15,196,881...15,220,265
Ensembl chr17:14,990,417...15,013,848 		JBrowse link
G Ogn osteoglycin ISO ClinVar Annotator: match by term: Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant ClinVar PMID:28492532 NCBI chr17:15,238,500...15,259,167
Ensembl chr17:15,032,069...15,052,739 		JBrowse link
G Omd osteomodulin ISO ClinVar Annotator: match by term: Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant ClinVar PMID:28492532 NCBI chr17:15,266,646...15,274,870
Ensembl chr17:15,060,217...15,068,441 		JBrowse link
G Prss47 serine protease 47 ISO ClinVar Annotator: match by term: Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant ClinVar PMID:28492532 NCBI chr17:145,606...160,046
Ensembl chr17:140,603...154,261 		JBrowse link
G Sptlc1 serine palmitoyltransferase, long chain base subunit 1 ISO ClinVar Annotator: match by term: Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant ClinVar PMID:28492532 NCBI chr17:12,029,189...12,068,234
Ensembl chr17:11,877,249...11,916,295 		JBrowse link
G Tia1 TIA1 cytotoxic granule-associated RNA binding protein ISO ClinVar Annotator: match by term: Gower's muscular dystrophy ClinVar PMID:25741868 PMID:26467025 PMID:26627873 PMID:28490364 PMID:28492532 More... NCBI chr 4:120,410,180...120,440,676
Ensembl chr 4:118,852,837...118,880,586 		JBrowse link
spinal muscular atrophy with lower extremity predominant 2B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bicd2 BICD cargo adaptor 2 ISO ClinVar Annotator: match by term: BICD2-related condition | ClinVar Annotator: match by term: Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant | ClinVar Annotator: match by term: Spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant OMIM
ClinVar		 PMID:11241493 PMID:21208200 PMID:23664116 PMID:25741868 PMID:26467025 More... NCBI chr17:15,449,011...15,511,423
Ensembl chr17:15,259,773...15,304,889 		JBrowse link
G Mt-nd6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 ISO DNA:missense mutation: :m.14459G>A (p.A72V) (human) RGD PMID:8016139 RGD:8657128 NCBI chr MT:13,543...14,061
Ensembl chr MT:13,543...14,061 		JBrowse link
spinal muscular atrophy with progressive myoclonic epilepsy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Asah1 N-acylsphingosine amidohydrolase 1 ISO ClinVar Annotator: match by term: Hereditary myoclonus and progressive distal muscular atrophy | ClinVar Annotator: match by term: MYOCLONUS, HEREDITARY, WITH PROGRESSIVE DISTAL MUSCULAR ATROPHY | ClinVar Annotator: match by term: Spinal muscular atrophy with progressive myoclonic epilepsy OMIM
ClinVar		 PMID:16199547 PMID:22703880 PMID:24033266 PMID:24164096 PMID:24355074 More... NCBI chr16:57,669,927...57,701,349
Ensembl chr16:50,966,229...51,008,233 		JBrowse link
Spinal Muscular Atrophy, Facioscapulohumeral Type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Plekhg5 pleckstrin homology and RhoGEF domain containing G5 ISO ClinVar Annotator: match by term: Spinal muscular atrophy, facioscapulohumeral type ClinVar NCBI chr 5:167,860,730...167,904,229
Ensembl chr 5:162,578,071...162,621,513 		JBrowse link
Spinal Muscular Atrophy, Infantile, James Type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fhod3 formin homology 2 domain containing 3 ISO ClinVar Annotator: match by term: Spinal muscular atrophy, infantile, James type ClinVar PMID:25741868 NCBI chr18:16,267,830...16,700,508
Ensembl chr18:15,993,324...16,425,796 		JBrowse link
G Gars1 glycyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Spinal muscular atrophy, infantile, James type OMIM
ClinVar		 PMID:17101916 PMID:20301420 PMID:22462675 PMID:24604904 PMID:25168514 More... NCBI chr 4:85,484,939...85,542,876
Ensembl chr 4:84,171,596...84,212,609 		JBrowse link
spinal muscular atrophy, Jokela type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C20h22orf15 similar to human chromosome 22 open reading frame 15 ISO ClinVar Annotator: match by term: Spinal muscular atrophy, jokela type ClinVar PMID:28492532 NCBI chr20:12,720,651...12,725,304
Ensembl chr20:12,723,160...12,726,059 		JBrowse link
G Chchd10 coiled-coil-helix-coiled-coil-helix domain containing 10 ISO ClinVar Annotator: match by term: Spinal muscular atrophy, Jokela type | ClinVar Annotator: match by term: Spinal muscular atrophy, jokela type OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:21715705 PMID:22535186 PMID:25113787 More... NCBI chr20:12,725,274...12,730,295
Ensembl chr20:12,725,842...12,732,763 		JBrowse link
vestibular neuronitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Crp C-reactive protein disease_progression ISO RGD PMID:14636287 RGD:9491594 NCBI chr13:87,694,062...87,695,978
Ensembl chr13:85,124,977...85,175,178 		JBrowse link
Werdnig-Hoffmann disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smn1 survival of motor neuron 1, telomeric ISO
ISS		 OMIM:253300
ClinVar Annotator: match by term: Werdnig-Hoffmann disease		 OMIM
MouseDO
ClinVar		 PMID:7813012 PMID:8922999 PMID:9147655 PMID:9158159 PMID:9590291 More... NCBI chr 2:33,224,115...33,235,162
Ensembl chr 2:31,490,015...31,501,060 		JBrowse link
G Vps54 VPS54 subunit of GARP complex ISS OMIM:253300 MouseDO NCBI chr14:99,580,120...99,657,178
Ensembl chr14:95,378,012...95,455,857 		JBrowse link
Worster-Drought Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmtc4 transmembrane O-mannosyltransferase targeting cadherins 4 ISO ClinVar Annotator: match by term: Worster-Drought syndrome ClinVar PMID:24375697 NCBI chr15:106,406,795...106,463,226
Ensembl chr15:100,000,152...100,056,543 		JBrowse link
X-linked distal spinal muscular atrophy 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp7a ATPase copper transporting alpha ISO
ISS		 ClinVar Annotator: match by term: NEURONOPATHY, DISTAL HEREDITARY MOTOR, X-LINKED | ClinVar Annotator: match by term: SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED RECESSIVE
OMIM:300489
CTD Direct Evidence: marker/mechanism
knock in;DNA:missense mutation:cds:p.T985I (mouse)
DNA:missense mutations:cds:p.P1386S, p.T994I (human)		 OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:10570920 PMID:11241493 PMID:14985388 PMID:16083905 PMID:16199547 More... RGD:11340198, RGD:11252181 NCBI chr  X:75,159,635...75,267,094
Ensembl chr  X:71,094,202...71,198,354 		JBrowse link
X-linked spinal muscular atrophy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Uba1 ubiquitin-like modifier activating enzyme 1 ISO ClinVar Annotator: match by term: AMC, distal, X-linked | ClinVar Annotator: match by term: Infantile-onset X-linked spinal muscular atrophy | ClinVar Annotator: match by term: Spinal Muscular Atrophy, X-Linked Infantile | ClinVar Annotator: match by term: Spinal muscular atrophy, X-linked 2
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18179898 PMID:20301739 More... NCBI chr  X:4,062,216...4,084,192
Ensembl chr  X:1,508,666...1,530,636 		JBrowse link
G Zc4h2 zinc finger C4H2-type containing ISO CTD Direct Evidence: marker/mechanism CTD PMID:23623388 NCBI chr  X:64,525,725...64,556,037
Ensembl chr  X:60,525,712...60,546,488 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19140
    disease of anatomical entity 18453
      nervous system disease 14363
        neurodegenerative disease 5076
          motor neuron disease 550
            Hereditary Sensorimotor Neuropathy with Upper Motor Neuron, Visual Pathway and Autonomic Disturbance 0
            MOTOR NEURON ATROPHY + 397
            Motor Neuron Disease with Dementia and Ophthalmoplegia 0
            Primary Lateral Sclerosis Juvenile 1
            anterior horn cell disease 0
            lateral sclerosis 0
            motor neuritis + 0
            multisystem proteinopathy 0
            nonparalytic poliomyelitis 0
            poliomyelitis + 2
            progressive bulbar palsy + 60
            progressive muscular atrophy 2
            pseudobulbar palsy + 0
            spinal muscular atrophy + 157
Path 2
Term Annotations click to browse term
  disease 19140
    disease of anatomical entity 18453
      nervous system disease 14363
        peripheral nervous system disease 4397
          neuropathy 4185
            neuromuscular disease 3226
              motor neuron disease 550
                Hereditary Sensorimotor Neuropathy with Upper Motor Neuron, Visual Pathway and Autonomic Disturbance 0
                MOTOR NEURON ATROPHY + 397
                Motor Neuron Disease with Dementia and Ophthalmoplegia 0
                Primary Lateral Sclerosis Juvenile 1
                anterior horn cell disease 0
                lateral sclerosis 0
                motor neuritis + 0
                multisystem proteinopathy 0
                nonparalytic poliomyelitis 0
                poliomyelitis + 2
                progressive bulbar palsy + 60
                progressive muscular atrophy 2
                pseudobulbar palsy + 0
                spinal muscular atrophy + 157
paths to the root