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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:spinal cord disease
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Accession:DOID:319 term browser browse the term
Definition:Pathologic conditions which feature SPINAL CORD damage or dysfunction, including disorders involving the meninges and perimeningeal spaces surrounding the spinal cord. Traumatic injuries, vascular diseases, infections, and inflammatory/autoimmune processes may affect the spinal cord.
Synonyms:exact_synonym: Myelopathies;   Myelopathy;   Spinal Cord Disorder;   Spinal Cord Disorders;   spinal cord diseases
 narrow_synonym: Degenerative myelopathy
 primary_id: MESH:D013118;   RDO:0002593
 alt_id: OMIA:000263
 xref: EFO:0009488;   ICD10CM:G95.9;   ICD9CM:336.9;   NCI:C97110
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
spinal cord disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ada adenosine deaminase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16325979 NCBI chr 3:172,818,174...172,842,283
Ensembl chr 3:152,398,747...152,447,088 		JBrowse link
G App amyloid beta precursor protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:11800653 NCBI chr11:37,506,207...37,724,351
Ensembl chr11:24,019,778...24,236,561 		JBrowse link
G Il6 interleukin 6 ISO protein:increased expression:serum RGD PMID:30327453 RGD:14975119 NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,213,394...5,219,178 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16361298 NCBI chr 5:163,748,346...163,768,141
Ensembl chr 5:158,465,296...158,483,797 		JBrowse link
G Sod1 superoxide dismutase 1 ISO Degenerative myelopathy OMIA PMID:8143248 PMID:12592926 PMID:18196743 PMID:19188595 PMID:19276068 More... NCBI chr11:42,942,742...42,948,399
Ensembl chr11:29,456,558...29,462,249 		JBrowse link
3-methylglutaconic aciduria type 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc39 coiled-coil domain 39 molecular ruler complex subunit ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 5 ClinVar PMID:16055927 PMID:27928778 PMID:28492532 NCBI chr 2:118,593,881...118,631,584
Ensembl chr 2:116,665,261...116,703,350 		JBrowse link
G Dnajc19 DnaJ heat shock protein family (Hsp40) member C19 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 5 | ClinVar Annotator: match by term: DNAJC19-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:16055927 PMID:16199547 PMID:17576681 PMID:22797137 More... NCBI chr 2:118,851,497...118,875,813
Ensembl chr 2:116,923,272...116,945,264 		JBrowse link
G Fxr1 FMR1 autosomal homolog 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 5 ClinVar PMID:16055927 PMID:27928778 PMID:28492532 NCBI chr 2:118,812,287...118,865,813
Ensembl chr 2:116,884,248...116,937,590 		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 1, FAMILIAL | 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 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 1, FAMILIAL | 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 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 susceptibility 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 OMIM
ClinVar		 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 3:163,263,059...163,271,055
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
ataxia telangiectasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aasdhppt aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:9,731,592...9,748,934
Ensembl chr 8:1,452,282...1,463,966 		JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:62,876,003...62,905,080
Ensembl chr 8:53,979,813...54,008,855 		JBrowse link
G Alg9 ALG9, alpha-1,2-mannosyltransferase ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:60,013,429...60,085,159
Ensembl chr 8:51,119,365...51,182,261 		JBrowse link
G Alkbh8 alkB homolog 8, tRNA methyltransferase ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 6:6,121,402...6,198,226
Ensembl chr 6:378,100...452,165 		JBrowse link
G Amotl1 angiomotin-like 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:19,630,139...19,749,027
Ensembl chr 8:11,353,674...11,467,573 		JBrowse link
G Ankrd49 ankyrin repeat domain 49 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:19,908,968...19,913,656
Ensembl chr 8:11,627,518...11,632,207 		JBrowse link
G Arhgap20 Rho GTPase activating protein 20 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:60,970,480...61,055,199
Ensembl chr 8:52,074,158...52,155,739 		JBrowse link
G Arhgap42 Rho GTPase activating protein 42 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:14,436,478...14,666,588
Ensembl chr 8:6,156,865...6,384,870 		JBrowse link
G Atm ATM serine/threonine kinase ISO
ISS
IMP		 ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Cerebello-oculocutaneous telangiectasia | ClinVar Annotator: match by term: Louis-Bar syndrome
ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome
ClinVar Annotator: match by term: AT, COMPLEMENTATION GROUP C | ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Cerebello-oculocutaneous telangiectasia | ClinVar Annotator: match by term: Louis-Bar syndrome
OMIM:208900
DNA:deletion:exon:
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:100011 PMID:133608 PMID:581456 PMID:622825 PMID:623656 More... RGD:10053611, RGD:12879399 NCBI chr 8:62,724,939...62,829,040
Ensembl chr 8:53,831,093...53,932,437 		JBrowse link
G Atmem1Kyo ATM serine/threonine kinase; ZFN induced mutant 1, Kyo IMP RGD PMID:28007901 RGD:12879399
G Bak1 BCL2-antagonist/killer 1 ISO DNA:mutation:exon:c.342C>T(human) RGD PMID:19898928 RGD:14394817 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 susceptibility ISO DNA:mutations:introns:IVS1146C>T, IVS3+14A>G(human) RGD PMID:19898928 RGD:14394817 NCBI chr 1:105,076,472...105,081,906
Ensembl chr 1:95,938,808...95,945,368 		JBrowse link
G Bik BCL2-interacting killer susceptibility ISO DNA:deletion:intron:IVS4-12delTC(human) RGD PMID:19898928 RGD:14394817 NCBI chr 7:116,552,303...116,571,317
Ensembl chr 7:114,672,277...114,691,296 		JBrowse link
G Birc2 baculoviral IAP repeat-containing 2 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:13,253,697...13,273,672
Ensembl chr 8:4,968,842...4,988,732 		JBrowse link
G Birc3 baculoviral IAP repeat-containing 3 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:13,285,702...13,313,329
Ensembl chr 8:5,000,845...5,015,802 		JBrowse link
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:16439621 PMID:16474404 PMID:18039235 PMID:18413255 PMID:18953432 More... NCBI chr 4:69,329,772...69,476,931
Ensembl chr 4:68,384,649...68,510,463 		JBrowse link
G Btg4 BTG anti-proliferation factor 4 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:51,410,774...51,425,802
Ensembl chr 8:51,422,061...51,425,796 		JBrowse link
G C8h11orf52 similar to human chromosome 11 open reading frame 52 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:59,977,717...59,984,706
Ensembl chr 8:51,081,342...51,094,533 		JBrowse link
G C8h11orf65 similar to human chromosome 11 open reading frame 65 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome
ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Cerebello-oculocutaneous telangiectasia		 ClinVar PMID:100011 PMID:581456 PMID:622825 PMID:988733 PMID:1065243 More... NCBI chr 8:62,692,123...62,720,951
Ensembl chr 8:53,796,366...53,824,748 		JBrowse link
G C8h11orf87 similar to human chromosome 11 open reading frame 87 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:53,062,361...53,069,882
Ensembl chr 8:53,062,360...53,069,538 		JBrowse link
G Casp1 caspase 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:10,746,338...10,882,295
Ensembl chr 8:2,587,831...2,597,383 		JBrowse link
G Casp12 caspase 12 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:10,927,188...10,954,442
Ensembl chr 8:2,642,434...2,674,037 		JBrowse link
G Casp4 caspase 4 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:10,883,817...10,919,978
Ensembl chr 8:2,598,876...2,635,092 		JBrowse link
G Ccdc82 coiled-coil domain containing 82 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:18,509,293...18,665,008
Ensembl chr 8:10,228,430...10,265,963 		JBrowse link
G Cep126 centrosomal protein 126 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:13,485,211...13,552,711
Ensembl chr 8:5,218,509...5,267,467 		JBrowse link
G Cep57 centrosomal protein 57 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:10,669,588...10,689,257
Ensembl chr 8:10,669,590...10,689,249 		JBrowse link
G Cfap300 cilia and flagella associated protein 300 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:13,465,016...13,483,679
Ensembl chr 8:5,180,675...5,198,807 		JBrowse link
G Cfap68 cilia and flagella associated protein 68 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:60,004,034...60,009,782
Ensembl chr 8:51,107,721...51,113,420 		JBrowse link
G Cntn5 contactin 5 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:15,017,424...16,249,418
Ensembl chr 8:6,738,239...7,967,957 		JBrowse link
G Cryab crystallin, alpha B ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:59,989,885...59,995,532
Ensembl chr 8:51,093,441...51,099,157 		JBrowse link
G Cul5 cullin 5 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:62,909,150...62,974,641
Ensembl chr 8:54,016,006...54,066,666 		JBrowse link
G Cwc15 CWC15 spliceosome-associated protein ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:19,586,900...19,597,817
Ensembl chr 8:11,305,424...11,316,325
Ensembl chr 2:11,305,424...11,316,325 		JBrowse link
G Cwf19l2 CWF19 like cell cycle control factor 2 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 6:6,036,158...6,102,686
Ensembl chr 6:281,685...356,604 		JBrowse link
G Dcun1d5 defective in cullin neddylation 1 domain containing 5 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:12,697,160...12,718,242
Ensembl chr 8:4,412,221...4,433,367 		JBrowse link
G Ddi1 DNA-damage inducible 1 homolog 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:3,596,658...3,598,505
Ensembl chr 8:3,595,149...3,598,533 		JBrowse link
G Ddx10 DEAD-box helicase 10 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:62,384,876...62,539,585
Ensembl chr 8:53,488,656...53,643,373 		JBrowse link
G Dixdc1 DIX domain containing 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:59,904,218...59,977,595
Ensembl chr 8:51,007,838...51,081,090 		JBrowse link
G Dlat dihydrolipoamide S-acetyltransferase ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:59,875,537...59,900,947
Ensembl chr 8:50,978,051...51,004,479
Ensembl chr 1:50,978,051...51,004,479 		JBrowse link
G Dync2h1 dynein cytoplasmic 2 heavy chain 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:12,473,955...12,697,075
Ensembl chr 8:4,189,257...4,412,183 		JBrowse link
G Elmod1 ELMO domain containing 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:63,194,539...63,251,526
Ensembl chr 8:54,298,363...54,355,140 		JBrowse link
G Endod1 endonuclease domain containing 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:19,490,615...19,520,007
Ensembl chr 8:11,211,110...11,238,892 		JBrowse link
G Exph5 exophilin 5 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:62,595,116...62,671,575
Ensembl chr 8:53,698,852...53,773,169 		JBrowse link
G Fam76b family with sequence similarity 76, member B ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:18,971,357...18,993,442
Ensembl chr 8:10,688,963...10,711,861 		JBrowse link
G Fdx1 ferredoxin 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:61,164,839...61,183,645
Ensembl chr 8:52,268,536...52,287,414 		JBrowse link
G Fdxacb1 ferredoxin-fold anticodon binding domain containing 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:60,009,818...60,014,625
Ensembl chr 8:51,113,397...51,118,308 		JBrowse link
G Fut4 fucosyltransferase 4 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:19,868,178...19,872,139
Ensembl chr 8:11,586,721...11,590,682 		JBrowse link
G Gria4 glutamate ionotropic receptor AMPA type subunit 4 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:9,845,421...10,320,021
Ensembl chr 8:1,562,119...2,034,979 		JBrowse link
G Gucy1a2 guanylate cyclase 1 soluble subunit alpha 2 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:8,785,212...9,174,322
Ensembl chr 8:500,212...889,203 		JBrowse link
G Hdac4 histone deacetylase 4 treatment ISO protein:altered localization:nucleus: RGD PMID:22466704 PMID:22466704 PMID:22466704 RGD:9681455, RGD:9681455, RGD:9681455 NCBI chr 9:99,950,972...100,200,994
Ensembl chr 9:92,507,611...92,750,164 		JBrowse link
G Hoatz HOATZ cilia and flagella associated protein ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:60,284,745...60,306,687
Ensembl chr 8:51,388,382...51,412,514 		JBrowse link
G Hspb2 heat shock protein family B (small) member 2 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:59,989,640...59,991,215
Ensembl chr 8:51,081,342...51,094,533 		JBrowse link
G Ifng interferon gamma ISO RGD PMID:6432389 RGD:8693328 NCBI chr 7:55,789,180...55,793,216
Ensembl chr 7:53,903,337...53,907,375 		JBrowse link
G Il2 interleukin 2 ISO RGD PMID:6432389 RGD:8693328 NCBI chr 2:121,932,968...121,937,672
Ensembl chr 2:120,004,862...120,009,566 		JBrowse link
G Il6 interleukin 6 severity ISO RGD PMID:26851119 RGD:11529801 NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,213,394...5,219,178 		JBrowse link
G Jrkl JRK-like ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:18,505,808...18,508,704
Ensembl chr 8:10,224,172...10,227,068 		JBrowse link
G Kbtbd3 kelch repeat and BTB domain containing 3 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:9,749,229...9,780,036
Ensembl chr 8:1,473,247...1,487,943 		JBrowse link
G Kdm4d lysine demethylase 4D ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:19,561,253...19,586,412
Ensembl chr 8:11,268,859...11,305,290 		JBrowse link
G Layn layilin ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:60,261,325...60,280,797
Ensembl chr 8:51,367,091...51,384,330 		JBrowse link
G Maml2 mastermind-like transcriptional coactivator 2 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:18,552,480...18,869,923
Ensembl chr 8:10,268,665...10,587,107 		JBrowse link
G Mir34b microRNA 34b ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:60,306,609...60,306,692
Ensembl chr 8:51,410,244...51,410,327 		JBrowse link
G Mir34c microRNA 34c ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:60,306,091...60,306,167
Ensembl chr 8:51,409,726...51,409,802 		JBrowse link
G Mmp1 matrix metallopeptidase 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:12,943,453...12,963,966
Ensembl chr 8:4,658,588...4,679,097 		JBrowse link
G Mmp10 matrix metallopeptidase 10 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:12,974,707...12,982,613
Ensembl chr 8:4,689,840...4,697,748 		JBrowse link
G Mmp12 matrix metallopeptidase 12 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:12,866,652...12,876,554
Ensembl chr 8:4,581,785...4,599,611 		JBrowse link
G Mmp13 matrix metallopeptidase 13 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:12,782,829...12,793,108
Ensembl chr 8:4,497,960...4,508,239 		JBrowse link
G Mmp20 matrix metallopeptidase 20 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:13,074,279...13,114,894
Ensembl chr 8:4,789,415...4,830,035 		JBrowse link
G Mmp27 matrix metallopeptidase 27 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:13,030,752...13,040,671
Ensembl chr 8:4,745,883...4,755,806 		JBrowse link
G Mmp3 matrix metallopeptidase 3 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:12,925,267...12,938,828
Ensembl chr 8:4,640,416...4,653,961 		JBrowse link
G Mmp7 matrix metallopeptidase 7 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:13,133,043...13,140,761
Ensembl chr 8:4,848,186...4,855,902 		JBrowse link
G Mmp8 matrix metallopeptidase 8 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:13,008,873...13,018,729
Ensembl chr 8:4,724,029...4,733,520 		JBrowse link
G Mre11 MRE11 homolog, double strand break repair nuclease ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:19,900,211...19,961,906
Ensembl chr 8:11,632,354...11,678,279 		JBrowse link
G Msantd4 Myb/SANT DNA binding domain containing 4 with coiled-coils ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:1,516,979...1,527,587
Ensembl chr 8:1,516,979...1,527,587 		JBrowse link
G Msh2 mutS homolog 2 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:28492532 PMID:33357406 NCBI chr 6:12,567,368...12,626,534
Ensembl chr 6:6,813,795...6,872,938 		JBrowse link
G Msh6 mutS homolog 6 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia ClinVar PMID:23621914 PMID:25085752 PMID:25741868 PMID:26845104 PMID:27884168 More... NCBI chr 6:12,316,190...12,333,505
Ensembl chr 6:6,562,632...6,579,956 		JBrowse link
G Mtmr2 myotubularin related protein 2 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:18,899,303...18,949,767
Ensembl chr 8:10,617,993...10,668,172 		JBrowse link
G Nkapd1 NKAP domain containing 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:59,852,037...59,863,295
Ensembl chr 8:50,955,654...50,966,830 		JBrowse link
G Npat nuclear protein, co-activator of histone transcription ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 PMID:31671381 NCBI chr 8:62,829,141...62,867,065
Ensembl chr 8:53,932,993...53,970,875 		JBrowse link
G Pdgfd platelet derived growth factor D ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:11,773,335...12,007,277
Ensembl chr 8:3,488,423...3,722,395 		JBrowse link
G Pgr progesterone receptor ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:14,354,398...14,413,271
Ensembl chr 8:6,072,673...6,131,344 		JBrowse link
G Pih1d2 PIH1 domain containing 2 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:59,863,271...59,871,465
Ensembl chr 8:50,966,885...50,975,656 		JBrowse link
G Piwil4 piwi-like RNA-mediated gene silencing 4 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:19,817,985...19,861,327
Ensembl chr 8:11,536,520...11,579,761 		JBrowse link
G Poglut3 protein O-glucosyltransferase 3 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:62,673,811...62,691,606
Ensembl chr 8:53,777,785...53,795,399 		JBrowse link
G Pou2af1 POU class 2 homeobox associating factor 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:60,418,173...60,445,176
Ensembl chr 8:51,474,015...51,548,819 		JBrowse link
G Pou2af2 POU class 2 homeobox associating factor 2 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:60,504,292...60,544,996
Ensembl chr 8:51,607,763...51,648,628 		JBrowse link
G Pou2af3 POU class 2 homeobox associating factor 3 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:60,484,596...60,493,475
Ensembl chr 8:51,588,237...51,603,855 		JBrowse link
G Ppp2r1b protein phosphatase 2 scaffold subunit A beta ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:60,092,540...60,125,512
Ensembl chr 8:51,186,717...51,228,485 		JBrowse link
G Rab39a RAB39A, member RAS oncogene family ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:62,984,434...63,002,053
Ensembl chr 8:54,088,129...54,106,483 		JBrowse link
G Rdx radixin ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:61,275,792...61,348,260
Ensembl chr 8:52,379,494...52,437,678 		JBrowse link
G Sdhd succinate dehydrogenase complex subunit D ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:59,841,090...59,850,641
Ensembl chr 8:50,944,704...50,954,238 		JBrowse link
G Sesn3 sestrin 3 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:19,415,307...19,470,943
Ensembl chr 8:11,133,678...11,185,842 		JBrowse link
G Sik2 salt-inducible kinase 2 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:60,121,913...60,221,707
Ensembl chr 8:51,225,543...51,325,415 		JBrowse link
G Slc35f2 solute carrier family 35, member F2 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:63,055,503...63,099,791
Ensembl chr 8:54,159,970...54,203,612 		JBrowse link
G Sln sarcolipin ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:63,117,577...63,144,290
Ensembl chr 8:54,243,542...54,247,791 		JBrowse link
G Timm8b translocase of inner mitochondrial membrane 8 homolog B ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:59,850,737...59,852,117
Ensembl chr 8:50,954,342...50,955,729 		JBrowse link
G Tmem123 transmembrane protein 123 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:13,206,907...13,237,069
Ensembl chr 8:4,922,098...4,952,224 		JBrowse link
G Trpc6 transient receptor potential cation channel, subfamily C, member 6 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:14,044,216...14,148,808
Ensembl chr 8:5,758,935...5,828,092 		JBrowse link
G Yap1 Yes1 associated transcriptional regulator ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:13,380,551...13,451,640
Ensembl chr 8:5,095,722...5,167,010 		JBrowse link
G Zc3h12c zinc finger CCCH type containing 12C ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:61,340,446...61,404,932
Ensembl chr 8:52,448,320...52,504,315 		JBrowse link
Ataxia Telangiectasia Like Disorder term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mre11 MRE11 homolog, double strand break repair nuclease ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Ataxia-telangiectasia-like disorder		 CTD
ClinVar		 PMID:2433832 PMID:8445618 PMID:8684395 PMID:9536098 PMID:9845372 More... NCBI chr 8:19,900,211...19,961,906
Ensembl chr 8:11,632,354...11,678,279 		JBrowse link
G Pcna proliferating cell nuclear antigen ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:139,951,948...139,955,820
Ensembl chr 3:119,498,810...119,502,995 		JBrowse link
ataxia with oculomotor apraxia type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aptx aprataxin susceptibility ISO ClinVar Annotator: match by term: APTX-related condition | ClinVar Annotator: match by term: Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
CTD Direct Evidence: marker/mechanism
DNA:mutations:multiple:
DNA:missense mutation:cds:p.V320G(human)
DNA:insertion, missense mutations: :80A>G, 95C>T, 166_167insT (human)		 OMIM
ClinVar
CTD
RGD		 PMID:11176957 PMID:11294920 PMID:11586299 PMID:11586300 PMID:12196655 More... RGD:10054301, RGD:10054300, RGD:1599207 NCBI chr 5:60,593,338...60,618,946
Ensembl chr 5:55,800,248...55,822,855 		JBrowse link
G Pnkp polynucleotide kinase 3'-phosphatase ISO ClinVar Annotator: match by term: Early-onset cerebellar ataxia with hypoalbuminemia ClinVar PMID:16199547 PMID:20118933 PMID:25728773 PMID:25741868 PMID:28492532 More... NCBI chr 1:104,476,801...104,483,409
Ensembl chr 1:95,341,620...95,346,920 		JBrowse link
G Setx senataxin ISO ClinVar Annotator: match by term: Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia ClinVar PMID:32488064 NCBI chr 3:32,825,771...32,878,740
Ensembl chr 3:12,427,635...12,480,803 		JBrowse link
ataxia with oculomotor apraxia type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pik3r5 phosphoinositide-3-kinase, regulatory subunit 5 ISO ClinVar Annotator: match by term: Ataxia with oculomotor apraxia type 3 | ClinVar Annotator: match by term: PIK3R5-related condition OMIM
ClinVar		 PMID:22065524 PMID:25741868 PMID:28492532 PMID:31589614 PMID:33116287 NCBI chr10:53,631,469...53,699,550
Ensembl chr10:53,132,603...53,199,374 		JBrowse link
ATAXIA, SPASTIC, CHILDHOOD-ONSET, AUTOSOMAL RECESSIVE, WITH OPTIC ATROPHY AND MENTAL RETARDATION term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sacs sacsin molecular chaperone ISO ClinVar Annotator: match by term: Ataxia, spastic, childhood-onset, autosomal recessive, with optic atrophy and mental retardation ClinVar PMID:15156359 PMID:21507954 PMID:25741868 PMID:28492532 PMID:30460542 More... NCBI chr15:39,461,853...39,546,419
Ensembl chr15:35,285,782...35,370,335 		JBrowse link
ataxia-oculomotor apraxia type 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pnkp polynucleotide kinase 3'-phosphatase ISO ClinVar Annotator: match by term: Ataxia - oculomotor apraxia type 4 | ClinVar Annotator: match by term: Ataxia-oculomotor apraxia 4 OMIM
ClinVar		 PMID:9536098 PMID:10446192 PMID:11704758 PMID:15136689 PMID:17576681 More... NCBI chr 1:104,476,801...104,483,409
Ensembl chr 1:95,341,620...95,346,920 		JBrowse link
Ataxia-Telangiectasia Variant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atm ATM serine/threonine kinase ISO ClinVar Annotator: match by term: Ataxia - telangiectasia variant | ClinVar Annotator: match by term: Ataxia-telangiectasia variant ClinVar PMID:581456 PMID:8755819 PMID:8755918 PMID:8808599 PMID:9000145 More... NCBI chr 8:62,724,939...62,829,040
Ensembl chr 8:53,831,093...53,932,437 		JBrowse link
G C8h11orf65 similar to human chromosome 11 open reading frame 65 ISO ClinVar Annotator: match by term: Ataxia - telangiectasia variant | ClinVar Annotator: match by term: Ataxia-telangiectasia variant ClinVar PMID:581456 PMID:8755819 PMID:8755918 PMID:8808599 PMID:9000145 More... NCBI chr 8:62,692,123...62,720,951
Ensembl chr 8:53,796,366...53,824,748 		JBrowse link
ataxia-telangiectasia-like disorder-1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mre11 MRE11 homolog, double strand break repair nuclease ISO ClinVar Annotator: match by term: Ataxia-telangiectasia-like disorder 1 | ClinVar Annotator: match by term: MRE11-related condition OMIM
ClinVar		 PMID:2433832 PMID:8445618 PMID:8684395 PMID:9536098 PMID:9845372 More... NCBI chr 8:19,900,211...19,961,906
Ensembl chr 8:11,632,354...11,678,279 		JBrowse link
ataxia-telangiectasia-like disorder-2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pcna proliferating cell nuclear antigen ISO ClinVar Annotator: match by term: Ataxia-telangiectasia-like disorder 2 | ClinVar Annotator: match by term: PCNA-related condition OMIM
ClinVar		 PMID:24911150 PMID:25741868 PMID:28492532 NCBI chr 3:139,951,948...139,955,820
Ensembl chr 3:119,498,810...119,502,995 		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 cerebellar ataxia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Afg3l2 AFG3 like matrix AAA peptidase subunit 2 ISO ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia ClinVar PMID:26467025 PMID:28492532 NCBI chr18:63,224,163...63,269,000
Ensembl chr18:60,954,268...60,999,110 		JBrowse link
G Dagla diacylglycerol lipase, alpha ISO ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia ClinVar PMID:25741868 NCBI chr 1:216,315,515...216,372,219
Ensembl chr 1:206,890,638...206,947,232 		JBrowse link
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia ClinVar PMID:9536098 PMID:17576681 PMID:18414213 PMID:24033266 PMID:24136616 More... NCBI chr 6:135,436,375...135,502,117
Ensembl chr 6:129,609,397...129,680,883 		JBrowse link
G Ep300 E1A binding protein p300 ISO ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia ClinVar PMID:28492532 PMID:35401678 NCBI chr 7:114,987,857...115,058,652
Ensembl chr 7:113,106,247...113,136,088
Ensembl chr 7:113,106,247...113,136,088 		JBrowse link
G Fat1 FAT atypical cadherin 1 ISO ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia ClinVar PMID:26489027 PMID:28492532 NCBI chr16:53,909,759...54,029,175
Ensembl chr16:47,177,248...47,296,107 		JBrowse link
G Fgf14 fibroblast growth factor 14 ISO ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia ClinVar NCBI chr15:107,442,800...108,086,486
Ensembl chr15:101,045,036...101,679,900 		JBrowse link
G Itpr1 inositol 1,4,5-trisphosphate receptor, type 1 ISO ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia ClinVar PMID:19423733 PMID:20198715 PMID:20383523 PMID:20437544 PMID:21367767 More... NCBI chr 4:142,743,401...143,066,505
Ensembl chr 4:141,187,418...141,510,491 		JBrowse link
G Kif26b kinesin family member 26B ISO ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia ClinVar PMID:29053796 NCBI chr13:92,815,427...93,221,071
Ensembl chr13:90,283,404...90,682,811 		JBrowse link
G Mtcl1 microtubule crosslinking factor 1 ISO ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia ClinVar PMID:23902687 PMID:25741868 NCBI chr 9:113,722,138...113,888,413
Ensembl chr 9:106,321,098...106,442,203 		JBrowse link
G Opa1 OPA1, mitochondrial dynamin like GTPase ISO ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia ClinVar PMID:25741868 NCBI chr11:84,612,943...84,690,025
Ensembl chr11:71,109,873...71,185,109 		JBrowse link
G Pdyn prodynorphin ISO ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia ClinVar NCBI chr 3:137,354,161...137,366,503
Ensembl chr 3:116,900,992...116,913,334 		JBrowse link
G Prkcg protein kinase C, gamma ISO ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia ClinVar PMID:25741868 PMID:26467025 NCBI chr 1:74,748,272...74,777,611
Ensembl chr 1:65,832,855...65,859,384 		JBrowse link
G Sptbn2 spectrin, beta, non-erythrocytic 2 ISO ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia ClinVar PMID:17940722 PMID:25741868 PMID:26467025 PMID:26740555 PMID:27965395 More... NCBI chr 1:211,432,373...211,473,016
Ensembl chr 1:202,002,970...202,044,283 		JBrowse link
G Tgm6 transglutaminase 6 ISO ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia ClinVar PMID:26467025 PMID:28492532 NCBI chr 3:137,771,368...137,809,000
Ensembl chr 3:117,321,489...117,354,734 		JBrowse link
G Ttbk2 tau tubulin kinase 2 ISO ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia ClinVar PMID:25741868 NCBI chr 3:128,144,851...128,256,630
Ensembl chr 3:107,697,340...107,803,223 		JBrowse link
autosomal dominant cerebellar ataxia, deafness and narcolepsy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnmt1 DNA methyltransferase 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia, deafness and narcolepsy		 OMIM
CTD
ClinVar		 PMID:7898717 PMID:8747854 PMID:9536098 PMID:10210919 PMID:17576681 More... NCBI chr 8:27,716,797...27,763,405
Ensembl chr 8:19,440,611...19,486,659 		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 Annotator: match by term: Distal hereditary motor neuropathy type 2 | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 2A		 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 cerebellar ataxia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ano10 anoctamin 10 ISO ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia ClinVar PMID:24033266 PMID:25089919 PMID:25133958 PMID:25182700 PMID:25664549 More... NCBI chr 8:130,719,177...130,838,243
Ensembl chr 8:121,841,665...121,962,670 		JBrowse link
G Coq8a coenzyme Q8A ISO ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:29482223 NCBI chr13:94,436,680...94,465,535
Ensembl chr13:91,904,739...91,931,431 		JBrowse link
G Prdx3 peroxiredoxin 3 ISO ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia ClinVar PMID:25741868 PMID:35792670 NCBI chr 1:269,987,691...270,000,111
Ensembl chr 1:260,001,637...260,014,111 		JBrowse link
G Septin11 septin 11 ISO ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia ClinVar PMID:25741868 PMID:31673878 NCBI chr14:15,119,760...15,275,222
Ensembl chr14:14,844,580...14,990,853 		JBrowse link
G Sptbn2 spectrin, beta, non-erythrocytic 2 ISO ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia ClinVar PMID:26467025 PMID:28492532 NCBI chr 1:211,432,373...211,473,016
Ensembl chr 1:202,002,970...202,044,283 		JBrowse link
G Syne1 spectrin repeat containing nuclear envelope protein 1 ISO ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia ClinVar PMID:16199547 PMID:17159980 PMID:19542096 PMID:24033266 PMID:24319099 More... NCBI chr 1:43,917,640...44,388,802
Ensembl chr 1:41,512,030...41,983,322 		JBrowse link
G Tdp1 tyrosyl-DNA phosphodiesterase 1 ISO ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia ClinVar NCBI chr 6:124,892,821...124,960,646
Ensembl chr 6:119,163,166...119,231,021 		JBrowse link
G Twnk twinkle mtDNA helicase ISO ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia ClinVar PMID:21689831 PMID:25355836 PMID:25741868 PMID:26206283 PMID:26467025 More... NCBI chr 1:253,817,074...253,823,958
Ensembl chr 1:243,868,330...243,874,802 		JBrowse link
G Vps13d vacuolar protein sorting 13 homolog D ISO ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia ClinVar PMID:25741868 NCBI chr 5:162,113,732...162,339,121
Ensembl chr 5:156,830,512...157,055,891 		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
autosomal recessive spinocerebellar ataxia 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ano10 anoctamin 10 ISO ClinVar Annotator: match by term: ANO10-related condition | ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 10 OMIM
ClinVar		 PMID:16199547 PMID:21092923 PMID:24033266 PMID:24123366 PMID:25089919 More... NCBI chr 8:130,719,177...130,838,243
Ensembl chr 8:121,841,665...121,962,670 		JBrowse link
autosomal recessive spinocerebellar ataxia 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Syt14 synaptotagmin 14 ISO ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 11 | ClinVar Annotator: match by term: SYT14-related condition OMIM
ClinVar		 PMID:21835308 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr13:104,416,796...104,570,790
Ensembl chr13:104,420,580...104,569,069 		JBrowse link
autosomal recessive spinocerebellar ataxia 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Maf MAF bZIP transcription factor ISO ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 12 ClinVar PMID:24369382 PMID:25741868 PMID:26467025 PMID:27959697 PMID:28492532 More... NCBI chr19:60,259,200...60,622,145
Ensembl chr19:43,360,342...43,712,365 		JBrowse link
G Wwox WW domain-containing oxidoreductase ISO
ISS		 ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 12 | ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA WITH MENTAL RETARDATION AND EPILEPSY
OMIM:614322		 OMIM
ClinVar
MouseDO		 PMID:9536098 PMID:11572989 PMID:16199547 PMID:17470496 PMID:17576681 More... NCBI chr19:59,338,402...60,269,323
Ensembl chr19:42,432,152...43,359,391 		JBrowse link
autosomal recessive spinocerebellar ataxia 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Grm1 glutamate metabotropic receptor 1 ISO
ISS		 ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 13 | ClinVar Annotator: match by term: GRM1-related condition
OMIM:614831		 OMIM
ClinVar
MouseDO		 PMID:19146831 PMID:19924463 PMID:21703448 PMID:22448230 PMID:22558107 More... NCBI chr 1:6,878,542...7,273,447
Ensembl chr 1:5,058,292...5,453,170 		JBrowse link
autosomal recessive spinocerebellar ataxia 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prkcg protein kinase C, gamma ISO ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 14 ClinVar PMID:25741868 NCBI chr 1:74,748,272...74,777,611
Ensembl chr 1:65,832,855...65,859,384 		JBrowse link
G Sptbn2 spectrin, beta, non-erythrocytic 2 ISO ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 14 | ClinVar Annotator: match by term: CEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, SPECTRIN-ASSOCIATED, 1 | ClinVar Annotator: match by term: SPTBN2-related condition OMIM
ClinVar		 PMID:17940722 PMID:23236289 PMID:23838597 PMID:25741868 PMID:26467025 More... NCBI chr 1:211,432,373...211,473,016
Ensembl chr 1:202,002,970...202,044,283 		JBrowse link
autosomal recessive spinocerebellar ataxia 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rubcn rubicon autophagy regulator ISO ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 15 | ClinVar Annotator: match by term: RUBCN-related condition OMIM
ClinVar		 PMID:20826435 PMID:23728897 PMID:25741868 PMID:28492532 PMID:30237576 More... NCBI chr11:81,420,261...81,469,415
Ensembl chr11:67,907,516...67,964,314 		JBrowse link
autosomal recessive spinocerebellar ataxia 16 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Jmjd8 jumonji domain containing 8 ISO ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 16 ClinVar PMID:24113144 PMID:24719489 PMID:24742043 PMID:25741868 PMID:28396517 More... NCBI chr10:15,353,460...15,356,392
Ensembl chr10:14,848,980...14,851,879 		JBrowse link
G Rhbdl1 rhomboid like 1 ISO ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 16 ClinVar PMID:25741868 NCBI chr10:15,359,027...15,362,530
Ensembl chr10:14,854,514...14,857,430 		JBrowse link
G Stub1 STIP1 homology and U-box containing protein 1 ISO
ISS		 ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 16
OMIM:615768		 OMIM
ClinVar
MouseDO		 PMID:10330192 PMID:24113144 PMID:24312598 PMID:24719489 PMID:24742043 More... NCBI chr10:15,355,278...15,357,559
Ensembl chr10:14,850,765...14,853,046 		JBrowse link
G Wdr24 WD repeat domain 24 ISO ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 16 ClinVar PMID:25741868 NCBI chr10:15,346,835...15,353,384
Ensembl chr10:14,843,728...14,848,864 		JBrowse link
autosomal recessive spinocerebellar ataxia 17 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cwf19l1 CWF19 like cell cycle control factor 1 ISO ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 17 | ClinVar Annotator: match by term: CWF19L1-related condition OMIM
ClinVar		 PMID:15981765 PMID:16199547 PMID:18414213 PMID:25361784 PMID:25741868 More... NCBI chr 1:242,997,720...243,020,989
Ensembl chr 1:242,997,726...243,020,961 		JBrowse link
autosomal recessive spinocerebellar ataxia 18 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Grid2 glutamate ionotropic receptor delta type subunit 2 ISO
ISS		 ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 18
OMIM:616204		 OMIM
ClinVar
MouseDO		 PMID:23611888 PMID:24078737 PMID:25741868 PMID:27980096 PMID:28492532 More... NCBI chr 4:93,745,165...95,222,354
Ensembl chr 4:92,415,230...93,889,355 		JBrowse link
autosomal recessive spinocerebellar ataxia 19 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc9a1 solute carrier family 9 member A1 ISO ClinVar Annotator: match by term: Lichtenstein-Knorr syndrome | ClinVar Annotator: match by term: SLC9A1-related condition OMIM
ClinVar		 PMID:25205112 PMID:25741868 PMID:28492532 PMID:30018422 NCBI chr 5:150,859,412...150,913,525
Ensembl chr 5:145,576,334...145,629,624 		JBrowse link
autosomal recessive spinocerebellar ataxia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pmpca peptidase, mitochondrial processing subunit alpha ISO ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 2 | ClinVar Annotator: match by term: PMPCA-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:10528257 PMID:17576681 PMID:25741868 PMID:25808372 More... NCBI chr 3:29,605,823...29,614,936
Ensembl chr 3:9,207,717...9,216,844 		JBrowse link
autosomal recessive spinocerebellar ataxia 20 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mt-cyb mitochondrially encoded cytochrome b ISO ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 20 ClinVar NCBI chr MT:14,136...15,278
Ensembl chr MT:14,136...15,278 		JBrowse link
G Snx14 sorting nexin 14 ISO ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 20 | ClinVar Annotator: match by term: SNX14-related condition OMIM
ClinVar		 PMID:24501761 PMID:25439728 PMID:25741868 PMID:25848753 PMID:27913285 More... NCBI chr 8:98,053,769...98,278,287
Ensembl chr 8:89,298,114...89,390,580 		JBrowse link
autosomal recessive spinocerebellar ataxia 21 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scyl1 SCY1 like pseudokinase 1 ISO ClinVar Annotator: match by term: Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome | ClinVar Annotator: match by term: CALFAN syndrome | ClinVar Annotator: match by term: SCYL1-related condition OMIM
ClinVar		 PMID:25741868 PMID:26581903 PMID:28492532 PMID:29419818 PMID:30531813 More... NCBI chr 1:212,475,198...212,489,285
Ensembl chr 1:203,045,741...203,059,533 		JBrowse link
G Tmem240 transmembrane protein 240 ISO ClinVar Annotator: match by term: Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome ClinVar PMID:25741868 NCBI chr 5:171,625,830...171,653,836
Ensembl chr 5:166,344,386...166,350,636 		JBrowse link
autosomal recessive spinocerebellar ataxia 22 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vwa3b von Willebrand factor A domain containing 3B ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 22 | ClinVar Annotator: match by term: VWA3B-related condition OMIM
ClinVar		 PMID:25741868 PMID:26157035 PMID:28492532 NCBI chr 9:39,249,523...39,419,614
Ensembl chr 9:39,250,430...39,419,611 		JBrowse link
autosomal recessive spinocerebellar ataxia 23 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tdp2 tyrosyl-DNA phosphodiesterase 2 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 23 | ClinVar Annotator: match by term: TDP2-related condition OMIM
ClinVar		 PMID:24658003 PMID:25741868 PMID:28492532 PMID:30109272 NCBI chr17:40,656,969...40,668,362
Ensembl chr17:40,228,947...40,240,313 		JBrowse link
autosomal recessive spinocerebellar ataxia 24 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Uba5 ubiquitin-like modifier activating enzyme 5 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 24 OMIM
ClinVar		 PMID:24033266 PMID:25741868 PMID:26872069 PMID:27545674 PMID:27545681 More... NCBI chr 8:113,544,037...113,559,711
Ensembl chr 8:104,665,046...104,680,894 		JBrowse link
autosomal recessive spinocerebellar ataxia 25 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atg5 autophagy related 5 ISO ClinVar Annotator: match by term: ATG5-related condition | ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 25 OMIM
ClinVar		 PMID:15981765 PMID:26812546 PMID:28492532 NCBI chr20:49,380,835...49,471,826
Ensembl chr20:47,798,290...47,889,209 		JBrowse link
autosomal recessive spinocerebellar ataxia 26 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Xrcc1 X-ray repair cross complementing 1 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 26 | ClinVar Annotator: match by term: XRCC1-related condition OMIM
ClinVar		 PMID:16875718 PMID:19362955 PMID:20530282 PMID:21057378 PMID:22026922 More... NCBI chr 1:89,268,721...89,296,619
Ensembl chr 1:80,141,207...80,168,701 		JBrowse link
autosomal recessive spinocerebellar ataxia 27 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gdap2 ganglioside-induced differentiation-associated-protein 2 ISO ClinVar Annotator: match by term: GDAP2-related condition | ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 27 OMIM
ClinVar		 PMID:25741868 PMID:30084953 PMID:39825153 NCBI chr 2:190,217,158...190,276,128
Ensembl chr 2:187,528,513...187,585,270 		JBrowse link
autosomal recessive spinocerebellar ataxia 28 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Thg1l tRNA-histidine guanylyltransferase 1-like ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 28 OMIM
ClinVar		 PMID:214071 PMID:1168944 PMID:25741868 PMID:27307223 PMID:28097321 NCBI chr10:30,889,259...30,897,903
Ensembl chr10:30,387,940...30,396,687 		JBrowse link
autosomal recessive spinocerebellar ataxia 29 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Asns asparagine synthetase (glutamine-hydrolyzing) ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 29 ClinVar PMID:25741868 PMID:27711071 PMID:28492532 PMID:29405484 PMID:36374791 NCBI chr 4:36,752,061...36,769,970
Ensembl chr 4:35,785,237...35,803,423 		JBrowse link
G Vps41 VPS41 subunit of HOPS complex ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 29 OMIM
ClinVar		 PMID:25741868 PMID:32808683 PMID:33764426 PMID:33851776 NCBI chr17:50,758,732...50,923,129
Ensembl chr17:46,063,124...46,227,791 		JBrowse link
autosomal recessive spinocerebellar ataxia 30 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pitrm1 pitrilysin metallopeptidase 1 ISO ClinVar Annotator: match by term: PITRM1-related condition | ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 30 OMIM
ClinVar		 PMID:25741868 PMID:26697887 PMID:28492532 PMID:29383861 PMID:29764912 NCBI chr17:68,705,699...68,737,350
Ensembl chr17:63,795,671...63,839,907 		JBrowse link
autosomal recessive spinocerebellar ataxia 31 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atg7 autophagy related 7 ISO ClinVar Annotator: match by term: ATG7-related condition | ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 31 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:34161705 PMID:35405176 NCBI chr 4:149,390,000...149,597,534
Ensembl chr 4:147,718,752...147,925,593 		JBrowse link
autosomal recessive spinocerebellar ataxia 32 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prdx3 peroxiredoxin 3 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 32 OMIM
ClinVar		 PMID:25741868 PMID:33889951 PMID:35766882 PMID:35792670 NCBI chr 1:269,987,691...270,000,111
Ensembl chr 1:260,001,637...260,014,111 		JBrowse link
autosomal recessive spinocerebellar ataxia 33 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rnu12 RNA, U12 small nuclear ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 33 OMIM
ClinVar		 PMID:27863452 NCBI chr 7:116,183,590...116,183,740
Ensembl chr 7:114,303,546...114,303,696 		JBrowse link
autosomal recessive spinocerebellar ataxia 34 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Car8 carbonic anhydrase 8 ISO ClinVar Annotator: match by term: CEREBELLAR ATAXIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 3 | ClinVar Annotator: match by term: Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 | ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 34
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:19461874 PMID:21812104 PMID:21937992 PMID:25741868 PMID:31693170 More... NCBI chr 5:26,102,767...26,199,819
Ensembl chr 5:21,305,383...21,402,374 		JBrowse link
autosomal recessive spinocerebellar ataxia 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vps13d vacuolar protein sorting 13 homolog D ISO ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome | ClinVar Annotator: match by term: Spinocerebellar ataxia autosomal recessive 4 | ClinVar Annotator: match by term: VPS13D-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:11960835 PMID:17576681 PMID:25741868 PMID:28492532 More... NCBI chr 5:162,113,732...162,339,121
Ensembl chr 5:156,830,512...157,055,891 		JBrowse link
autosomal recessive spinocerebellar ataxia 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tpp1 tripeptidyl peptidase 1 ISO ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 7 | ClinVar Annotator: match by term: Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia | ClinVar Annotator: match by term: TPP1-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9295267 PMID:9536098 PMID:9788728 PMID:10330339 PMID:10862088 More... NCBI chr 1:169,509,816...169,515,939
Ensembl chr 1:160,096,833...160,104,129 		JBrowse link
autosomal recessive spinocerebellar ataxia 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Esr1 estrogen receptor 1 ISO ClinVar Annotator: match by term: Autosomal recessive ataxia, Beauce type | ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 8 ClinVar PMID:25741868 PMID:26467025 PMID:27782104 PMID:28492532 NCBI chr 1:43,511,685...43,904,454
Ensembl chr 1:41,210,475...41,495,002 		JBrowse link
G Fbxo5 F-box protein 5 ISO ClinVar Annotator: match by term: Autosomal recessive ataxia, Beauce type ClinVar PMID:19542096 PMID:24319099 PMID:27086870 PMID:28492532 NCBI chr 1:44,601,412...44,607,781
Ensembl chr 1:42,196,068...42,202,437 		JBrowse link
G Lama4 laminin subunit alpha 4 ISO ClinVar Annotator: match by term: SYNE1-Related Autosomal Recessive Cerebellar Ataxia ClinVar PMID:25326637 PMID:25741868 PMID:28492532 NCBI chr20:43,946,898...44,087,972
Ensembl chr20:42,392,268...42,533,347 		JBrowse link
G Mtrf1l mitochondrial translation release factor 1 like ISO ClinVar Annotator: match by term: Autosomal recessive ataxia, Beauce type ClinVar PMID:19542096 PMID:24319099 PMID:27086870 PMID:28492532 NCBI chr 1:44,614,162...44,626,367
Ensembl chr 1:42,210,583...42,220,836 		JBrowse link
G Myct1 myc target 1 ISO ClinVar Annotator: match by term: Autosomal recessive ataxia, Beauce type ClinVar PMID:19542096 PMID:24319099 PMID:27086870 PMID:28492532 NCBI chr 1:44,423,478...44,434,751
Ensembl chr 1:42,018,137...42,029,410 		JBrowse link
G Ndufv1 NADH:ubiquinone oxidoreductase core subunit V1 ISO ClinVar Annotator: match by term: SYNE1-Related Autosomal Recessive Cerebellar Ataxia ClinVar PMID:10080174 PMID:22644603 PMID:25326637 PMID:25741868 PMID:26345448 More... NCBI chr 1:210,729,856...210,735,103
Ensembl chr 1:201,299,985...201,305,466 		JBrowse link
G Oprm1 opioid receptor, mu 1 ISO ClinVar Annotator: match by term: Autosomal recessive ataxia, Beauce type ClinVar PMID:19542096 PMID:24319099 PMID:27086870 PMID:28492532 NCBI chr 1:45,565,371...45,818,722
Ensembl chr 1:43,160,057...43,413,409 		JBrowse link
G Rgs17 regulator of G-protein signaling 17 ISO ClinVar Annotator: match by term: Autosomal recessive ataxia, Beauce type ClinVar PMID:19542096 PMID:24319099 PMID:27086870 PMID:28492532 NCBI chr 1:42,222,248...42,324,625
Ensembl chr 1:42,227,070...42,324,609 		JBrowse link
G Syne1 spectrin repeat containing nuclear envelope protein 1 ISO ClinVar Annotator: match by term: Autosomal recessive ataxia, Beauce type | ClinVar Annotator: match by term: SYNE1-Related Autosomal Recessive Cerebellar Ataxia | ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 8
CTD Direct Evidence: marker/mechanism
DNA:mutations:multiple:		 OMIM
ClinVar
CTD
RGD		 PMID:3169216 PMID:9536098 PMID:16199547 PMID:17159980 PMID:17503513 More... RGD:13209001 NCBI chr 1:43,917,640...44,388,802
Ensembl chr 1:41,512,030...41,983,322 		JBrowse link
G Vip vasoactive intestinal peptide ISO ClinVar Annotator: match by term: Autosomal recessive ataxia, Beauce type ClinVar PMID:19542096 PMID:24319099 PMID:27086870 PMID:28492532 NCBI chr 1:44,470,232...44,478,561
Ensembl chr 1:42,065,120...42,073,216 		JBrowse link
Boucher-Neuhauser syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mcoln1 mucolipin TRP cation channel 1 ISO ClinVar Annotator: match by term: Ataxia-hypogonadism-choroidal dystrophy syndrome ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr12:6,357,851...6,372,151
Ensembl chr12:1,560,359...1,574,252 		JBrowse link
G Pnpla6 patatin-like phospholipase domain containing 6 ISO ClinVar Annotator: match by term: Ataxia-hypogonadism-choroidal dystrophy syndrome | ClinVar Annotator: match by term: Chorioretinal dystrophy, spinocerebellar ataxia and hypogonadotropic hypogonadism
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:2557489 PMID:3963113 PMID:8053762 PMID:9321767 PMID:16199547 More... NCBI chr12:6,372,284...6,401,632
Ensembl chr12:1,560,363...1,603,734 		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
CAPOS Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 ISO DNA:missense mutation:exon:p.E818K (c.2452G>A) (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CAPOS syndrome | ClinVar Annotator: match by term: CEREBELLAR ATAXIA, AREFLEXIA, PES CAVUS, OPTIC ATROPHY, AND SENSORINEURAL HEARING LOSS | ClinVar Annotator: match by term: Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss		 OMIM
CTD
ClinVar
RGD		 PMID:8733056 PMID:15260953 PMID:18414213 PMID:18675996 PMID:19652145 More... RGD:11576280 NCBI chr 1:89,700,645...89,729,782
Ensembl chr 1:80,572,796...80,601,918 		JBrowse link
Cayman type cerebellar ataxia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atcay ATCAY kinesin light chain interacting caytaxin ISO
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:601238
ClinVar Annotator: match by term: ATCAY-related condition | ClinVar Annotator: match by term: Cayman type cerebellar ataxia		 OMIM
CTD
MouseDO
ClinVar		 PMID:25741868 PMID:28492532 PMID:29449188 NCBI chr 7:9,138,485...9,162,249
Ensembl chr 7:8,487,763...8,512,663 		JBrowse link
cerebellar ataxia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ahnak2 AHNAK nucleoprotein 2 ISO ClinVar Annotator: match by term: Dysmetria ClinVar PMID:25741868 NCBI chr 6:137,648,867...137,697,580
Ensembl chr 6:131,831,454...131,854,463 		JBrowse link
G Atcay ATCAY kinesin light chain interacting caytaxin susceptibility ISO RGD PMID:14556008 RGD:1599348 NCBI chr 7:9,138,485...9,162,249
Ensembl chr 7:8,487,763...8,512,663 		JBrowse link
G Atg4d autophagy related 4D, cysteine peptidase ISO Neurodegenerative vacuolar storage disease OMIA PMID:25875846 PMID:28583040 PMID:33016245 PMID:37341581 PMID:38003185 More... NCBI chr 8:28,083,902...28,093,491
Ensembl chr 8:19,807,766...19,817,321 		JBrowse link
G Atm ATM serine/threonine kinase ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:9887333 PMID:12810666 PMID:23807571 PMID:25614872 PMID:25741868 More... NCBI chr 8:62,724,939...62,829,040
Ensembl chr 8:53,831,093...53,932,437 		JBrowse link
G Atp1b2 ATPase Na+/K+ transporting subunit beta 2 ISO Ataxia, cerebellar, ATP1B2-related OMIA PMID:28620085 PMID:37341581 PMID:38003185 NCBI chr10:54,817,473...54,823,708
Ensembl chr10:54,318,701...54,324,933 		JBrowse link
G C8h11orf65 similar to human chromosome 11 open reading frame 65 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:9887333 PMID:23807571 PMID:25614872 PMID:25741868 PMID:28492532 More... NCBI chr 8:62,692,123...62,720,951
Ensembl chr 8:53,796,366...53,824,748 		JBrowse link
G Cacna1a calcium voltage-gated channel subunit alpha1 A ISS
ISO		 ClinVar Annotator: match by term: Cerebellar ataxia MouseDO
ClinVar		 PMID:8898206 PMID:10371528 PMID:15173248 PMID:19486177 PMID:25735478 More... NCBI chr19:40,425,560...40,724,810
Ensembl chr19:23,520,741...23,823,225 		JBrowse link
G Cacna1g calcium voltage-gated channel subunit alpha1 G ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr10:79,851,886...79,919,926
Ensembl chr10:79,355,008...79,422,752 		JBrowse link
G Caprin1 cell cycle associated protein 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 PMID:36136249 NCBI chr 3:110,606,489...110,685,408
Ensembl chr 3:90,153,620...90,230,502 		JBrowse link
G Cep104 centrosomal protein 104 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:32581362 NCBI chr 5:169,817,383...169,849,681
Ensembl chr 5:164,534,782...164,567,248 		JBrowse link
G Cers1 ceramide synthase 1 treatment ISO RGD PMID:21625621 RGD:156431058 NCBI chr16:19,131,271...19,146,480
Ensembl chr16:19,104,466...19,112,519 		JBrowse link
G Ciz1 CDKN1A interacting zinc finger protein 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 PMID:28492532 PMID:28554332 PMID:34386584 NCBI chr 3:36,055,753...36,071,510
Ensembl chr 3:15,658,539...15,673,762 		JBrowse link
G Clcn2 chloride voltage-gated channel 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr11:93,702,382...93,716,059
Ensembl chr11:80,198,153...80,211,657 		JBrowse link
G Coq8a coenzyme Q8A ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25558065 PMID:25741868 NCBI chr13:94,436,680...94,465,535
Ensembl chr13:91,904,739...91,931,431 		JBrowse link
G Csmd1 CUB and Sushi multiple domains 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 PMID:28492532 PMID:35351988 NCBI chr16:78,920,549...80,520,710
Ensembl chr16:72,218,503...73,817,614 		JBrowse link
G Dars2 aspartyl-tRNA synthetase 2 (mitochondrial) ISO ClinVar Annotator: match by term: Dysmetria ClinVar PMID:16199547 PMID:17384640 PMID:19592391 PMID:22843165 PMID:23065766 More... NCBI chr13:75,842,078...75,870,319
Ensembl chr13:73,308,726...73,336,934 		JBrowse link
G Dnm1 dynamin 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 PMID:28492532 PMID:28554332 PMID:34386584 NCBI chr 3:36,002,535...36,055,220
Ensembl chr 3:15,604,784...15,648,538 		JBrowse link
G Dnmt1 DNA methyltransferase 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr 8:27,716,797...27,763,405
Ensembl chr 8:19,440,611...19,486,659 		JBrowse link
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr 6:135,436,375...135,502,117
Ensembl chr 6:129,609,397...129,680,883 		JBrowse link
G Esr1 estrogen receptor 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar NCBI chr 1:43,511,685...43,904,454
Ensembl chr 1:41,210,475...41,495,002 		JBrowse link
G Gjb1 gap junction protein, beta 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:9361298 PMID:9818870 PMID:11438991 PMID:11571214 PMID:15468313 More... NCBI chr  X:70,541,845...70,549,776
Ensembl chr  X:66,501,820...66,509,925 		JBrowse link
G Grm1 glutamate metabotropic receptor 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 PMID:36675067 NCBI chr 1:6,878,542...7,273,447
Ensembl chr 1:5,058,292...5,453,170 		JBrowse link
G Hars1 histidyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 PMID:28492532 PMID:32333447 NCBI chr18:28,655,669...28,672,712
Ensembl chr18:28,381,655...28,398,740 		JBrowse link
G Itpr1 inositol 1,4,5-trisphosphate receptor, type 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar NCBI chr 4:142,743,401...143,066,505
Ensembl chr 4:141,187,418...141,510,491 		JBrowse link
G Kcna6 potassium voltage-gated channel subfamily A member 6 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr 4:161,229,103...161,262,352
Ensembl chr 4:159,542,615...159,576,189 		JBrowse link
G Kcnj10 potassium inwardly-rectifying channel, subfamily J, member 10 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:19289823 PMID:19420365 PMID:20651251 PMID:20807765 PMID:32581362 NCBI chr13:87,334,510...87,367,747
Ensembl chr13:84,802,009...84,835,461 		JBrowse link
G Kcnn2 potassium calcium-activated channel subfamily N member 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 PMID:33242881 PMID:36746441 NCBI chr18:40,004,693...40,445,043
Ensembl chr18:37,817,957...38,258,347 		JBrowse link
G Kif1c kinesin family member 1C ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 PMID:32581362 NCBI chr10:55,913,010...55,942,220
Ensembl chr10:55,415,900...55,443,545 		JBrowse link
G Kif7 kinesin family member 7 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 PMID:28492532 PMID:29286531 NCBI chr 1:143,041,206...143,067,873
Ensembl chr 1:133,640,065...133,658,576 		JBrowse link
G L1cam L1 cell adhesion molecule ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr  X:156,748,597...156,775,116
Ensembl chr  X:151,597,277...151,623,857 		JBrowse link
G L2hgdh L-2-hydroxyglutarate dehydrogenase ISO DNA:mutation:cds:c.241A4G(p.K81E)(human) RGD PMID:24573090 RGD:13506824 NCBI chr 6:93,900,427...93,941,534
Ensembl chr 6:88,164,440...88,205,578 		JBrowse link
G Lrch2 leucine rich repeats and calponin homology domain containing 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:35351988 NCBI chr  X:115,903,760...115,986,569
Ensembl chr  X:111,092,814...111,174,210 		JBrowse link
G Mfn2 mitofusin 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:15064763 PMID:16043786 PMID:16835246 PMID:17296794 PMID:17959936 More... NCBI chr 5:163,587,463...163,617,363
Ensembl chr 5:158,304,287...158,335,342 		JBrowse link
G Mlc1 modulator of VRAC current 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:16652334 PMID:21160490 PMID:23079554 PMID:23851226 PMID:25741868 More... NCBI chr 7:121,926,356...121,949,484
Ensembl chr 7:120,046,705...120,067,049 		JBrowse link
G Mt-atp6 mitochondrially encoded ATP synthase membrane subunit 6 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:7,919...8,599
Ensembl chr MT:7,919...8,599 		JBrowse link
G Mt-atp8 mitochondrially encoded ATP synthase membrane subunit 8 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:7,758...7,961
Ensembl chr MT:7,758...7,961 		JBrowse link
G Mt-co1 mitochondrially encoded cytochrome c oxidase I ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:5,323...6,867
Ensembl chr MT:5,323...6,867 		JBrowse link
G Mt-co2 mitochondrially encoded cytochrome c oxidase II ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:7,006...7,689
Ensembl chr MT:7,006...7,689 		JBrowse link
G Mt-co3 mitochondrially encoded cytochrome c oxidase III ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:8,599...9,382
Ensembl chr MT:8,599...9,382 		JBrowse link
G Mt-nd1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:2,740...3,694
Ensembl chr MT:2,740...3,694 		JBrowse link
G Mt-nd2 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:3,904...4,942
Ensembl chr MT:3,904...4,942 		JBrowse link
G Mt-nd3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:9,451...9,798
Ensembl chr MT:9,451...9,798 		JBrowse link
G Mt-nd4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:10,160...11,537
Ensembl chr MT:10,160...11,537 		JBrowse link
G Mt-nd4l mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:9,870...10,166
Ensembl chr MT:9,870...10,166 		JBrowse link
G Mt-nd5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:11,736...13,565
Ensembl chr MT:11,736...13,565 		JBrowse link
G Mtcl1 microtubule crosslinking factor 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 PMID:30548255 NCBI chr 9:113,722,138...113,888,413
Ensembl chr 9:106,321,098...106,442,203 		JBrowse link
G Nop56 NOP56 ribonucleoprotein ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr 3:137,926,187...137,934,971
Ensembl chr 3:117,477,053...117,481,841 		JBrowse link
G Npc1 NPC intracellular cholesterol transporter 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:10521290 PMID:11333381 PMID:11349231 PMID:11479732 PMID:11754101 More... NCBI chr18:3,654,237...3,699,853
Ensembl chr18:3,379,482...3,425,049 		JBrowse link
G Pde1b phosphodiesterase 1B ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr 7:136,505,834...136,533,034
Ensembl chr 7:134,627,322...134,654,580 		JBrowse link
G Pex6 peroxisomal biogenesis factor 6 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:19877282 PMID:25079577 PMID:25741868 PMID:28492532 PMID:32399598 NCBI chr 9:21,755,747...21,767,939
Ensembl chr 9:14,258,145...14,270,303 		JBrowse link
G Pmm2 phosphomannomutase 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:9140401 PMID:9497260 PMID:9781039 PMID:10386614 PMID:10527672 More... NCBI chr10:7,468,371...7,489,574
Ensembl chr10:6,961,709...6,983,098 		JBrowse link
G Pmpca peptidase, mitochondrial processing subunit alpha ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar NCBI chr 3:29,605,823...29,614,936
Ensembl chr 3:9,207,717...9,216,844 		JBrowse link
G Pnpla6 patatin-like phospholipase domain containing 6 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25033069 PMID:25359264 PMID:25741868 PMID:28492532 PMID:34234304 More... NCBI chr12:6,372,284...6,401,632
Ensembl chr12:1,560,363...1,603,734 		JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISO associated with Ophthalmoplegia, Chronic Progressive External;DNA:mutations:cds: RGD PMID:20803511 RGD:8694192 NCBI chr 1:142,792,119...142,808,933
Ensembl chr 1:133,382,766...133,398,567 		JBrowse link
G Pomt1 protein-O-mannosyltransferase 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 PMID:26467025 PMID:28182637 PMID:28492532 NCBI chr 3:35,918,370...35,936,330
Ensembl chr 3:15,520,481...15,538,581 		JBrowse link
G Prkcg protein kinase C, gamma ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar NCBI chr 1:74,748,272...74,777,611
Ensembl chr 1:65,832,855...65,859,384 		JBrowse link
G Ptrh2 peptidyl-tRNA hydrolase 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25558065 PMID:25741868 PMID:27129381 PMID:28328138 NCBI chr10:72,002,450...72,012,606
Ensembl chr10:71,504,956...71,515,398 		JBrowse link
G Rab24 RAB24, member RAS oncogene family ISO Ataxia, cerebellar, juvenile to adolescent, RAB24-related OMIA PMID:3973637 PMID:6502189 PMID:7341602 PMID:7440348 PMID:11043686 More... NCBI chr17:9,313,593...9,315,675
Ensembl chr17:9,308,525...9,310,553 		JBrowse link
G Rfc1 replication factor C subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30926972 NCBI chr14:43,319,768...43,395,028
Ensembl chr14:42,966,324...43,041,370 		JBrowse link
G Rpgrip1l Rpgrip1-like ISO associated with Joubert Syndrome 7;DNA:mutations:exons: RGD PMID:17558409 RGD:11073359 NCBI chr19:31,865,050...31,957,930
Ensembl chr19:15,692,150...15,785,083 		JBrowse link
G Rpl27a ribosomal protein L27A ISO CTD Direct Evidence: marker/mechanism CTD PMID:21674502 NCBI chr 1:172,971,957...172,977,591 JBrowse link
G Satb2 SATB homeobox 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr 9:65,842,351...66,028,569
Ensembl chr 9:58,350,246...58,530,707 		JBrowse link
G Scn8a sodium voltage-gated channel alpha subunit 8 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cerebellar ataxia		 CTD
ClinVar		 PMID:16236810 PMID:25741868 NCBI chr 7:133,860,901...134,034,809
Ensembl chr 7:131,982,480...132,151,292 		JBrowse link
G Sel1l SEL1L adaptor subunit of SYVN1 ubiquitin ligase ISO Ataxia, cerebellar, progressive early-onset, SEL1L-related OMIA PMID:22719266 PMID:37341581 PMID:38003185 NCBI chr 6:116,466,163...116,510,436
Ensembl chr 6:110,735,450...110,779,648 		JBrowse link
G Sepsecs Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25558065 NCBI chr14:62,524,287...62,554,529
Ensembl chr14:58,311,499...58,341,740 		JBrowse link
G Setx senataxin ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25558065 PMID:25741868 PMID:26467025 NCBI chr 3:32,825,771...32,878,740
Ensembl chr 3:12,427,635...12,480,803 		JBrowse link
G Slc2a1 solute carrier family 2 member 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar NCBI chr 5:138,002,522...138,030,742
Ensembl chr 5:132,717,196...132,745,416 		JBrowse link
G Snx14 sorting nexin 14 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cerebellar ataxia		 CTD
ClinVar		 PMID:25848753 NCBI chr 8:98,053,769...98,278,287
Ensembl chr 8:89,298,114...89,390,580 		JBrowse link
G Spart spartin ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25558065 PMID:25741868 NCBI chr 2:141,442,770...141,469,388
Ensembl chr 2:139,292,355...139,319,248 		JBrowse link
G Sptbn2 spectrin, beta, non-erythrocytic 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr 1:211,432,373...211,473,016
Ensembl chr 1:202,002,970...202,044,283 		JBrowse link
G Stxbp1 syntaxin binding protein 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:20887364 PMID:24033266 PMID:25533962 PMID:25741868 PMID:26384463 More... NCBI chr 3:36,474,428...36,536,120
Ensembl chr 3:16,076,391...16,138,369 		JBrowse link
G Surf1 SURF1, cytochrome c oxidase assembly factor ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:9536098 PMID:17576681 PMID:22488715 PMID:23829769 PMID:25741868 More... NCBI chr 3:30,639,868...30,642,759
Ensembl chr 3:10,241,837...10,263,315 		JBrowse link
G Syne1 spectrin repeat containing nuclear envelope protein 1 ISO DNA:nonsense, missense mutations:introns,exons:
ClinVar Annotator: match by term: Cerebellar ataxia		 ClinVar
RGD		 PMID:25741868 PMID:26467025 PMID:28492532 PMID:17503513 RGD:13209009 NCBI chr 1:43,917,640...44,388,802
Ensembl chr 1:41,512,030...41,983,322 		JBrowse link
G Syngap1 synaptic Ras GTPase activating protein 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr20:5,028,226...5,058,519
Ensembl chr20:5,026,364...5,056,672 		JBrowse link
G Tdp2 tyrosyl-DNA phosphodiesterase 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar NCBI chr17:40,656,969...40,668,362
Ensembl chr17:40,228,947...40,240,313 		JBrowse link
G Tln1 talin 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr 5:62,583,730...62,613,687
Ensembl chr 5:57,787,943...57,817,900 		JBrowse link
G Unc13a unc-13 homolog A ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 PMID:28192369 NCBI chr16:18,367,891...18,415,808
Ensembl chr16:18,336,229...18,381,872 		JBrowse link
G Vps39 VPS39 subunit of HOPS complex ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr 3:127,721,076...127,758,658
Ensembl chr 3:107,267,310...107,304,975 		JBrowse link
G Wdr81 WD repeat domain 81 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 PMID:26437881 PMID:27848944 NCBI chr10:60,780,268...60,793,671
Ensembl chr10:60,281,972...60,295,296 		JBrowse link
G Zfp236 zinc finger protein 236 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr18:78,251,248...78,351,037
Ensembl chr18:75,978,231...76,073,737 		JBrowse link
CEREBELLAR ATAXIA INFANTILE WITH PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fanci FA complementation group I ISO ClinVar Annotator: match by term: Cerebellar ataxia infantile with progressive external ophthalmoplegia ClinVar PMID:15477547 PMID:15689359 PMID:16177225 PMID:16621917 PMID:17088268 More... NCBI chr 1:142,736,636...142,792,999
Ensembl chr 1:133,327,297...133,383,640 		JBrowse link
G Msh6 mutS homolog 6 ISO ClinVar Annotator: match by term: Cerebellar ataxia infantile with progressive external ophthalmoplegia ClinVar PMID:23621914 PMID:24033266 PMID:25142776 PMID:25326637 PMID:25741868 More... NCBI chr 6:12,316,190...12,333,505
Ensembl chr 6:6,562,632...6,579,956 		JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: Cerebellar ataxia infantile with progressive external ophthalmoplegia ClinVar PMID:632821 PMID:1539879 PMID:1858914 PMID:7847370 PMID:11431686 More... NCBI chr 1:142,792,119...142,808,933
Ensembl chr 1:133,382,766...133,398,567 		JBrowse link
cerebellar ataxia type 41 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trpc3 transient receptor potential cation channel, subfamily C, member 3 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia type 41 | ClinVar Annotator: match by term: TRPC3-related condition OMIM
ClinVar		 PMID:25477146 PMID:25741868 PMID:28492532 NCBI chr 2:121,409,436...121,487,095
Ensembl chr 2:119,481,400...119,558,855 		JBrowse link
cerebellar ataxia type 42 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacna1g calcium voltage-gated channel subunit alpha1 G ISO
ISS		 ClinVar Annotator: match by term: CACNA1G-related disorders | ClinVar Annotator: match by term: Spinocerebellar ataxia type 42
OMIM:616795		 OMIM
ClinVar
MouseDO		 PMID:25741868 PMID:26456284 PMID:26715324 PMID:28490766 PMID:28492532 More... NCBI chr10:79,851,886...79,919,926
Ensembl chr10:79,355,008...79,422,752 		JBrowse link
cerebellar ataxia type 43 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mme membrane metallo-endopeptidase ISO ClinVar Annotator: match by term: Spinocerebellar ataxia 43 OMIM
ClinVar		 PMID:15464186 PMID:24033266 PMID:25565308 PMID:25741868 PMID:26991897 More... NCBI chr 2:149,806,826...149,957,381
Ensembl chr 2:147,722,086...147,803,792 		JBrowse link
cerebellar ataxia type 47 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pum1 pumilio RNA-binding family member 1 ISO ClinVar Annotator: match by term: PUM1-related condition | ClinVar Annotator: match by term: Spinocerebellar ataxia 47 OMIM
ClinVar		 PMID:25741868 PMID:29474920 PMID:30903679 PMID:31859446 PMID:35386260 NCBI chr 5:148,120,712...148,238,468
Ensembl chr 5:142,837,127...142,954,039 		JBrowse link
cerebellar ataxia type 48 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Jmjd8 jumonji domain containing 8 ISO ClinVar Annotator: match by term: STUB1-related condition | ClinVar Annotator: match by term: Spinocerebellar ataxia 48 ClinVar PMID:24113144 PMID:24719489 PMID:25741868 PMID:28396517 PMID:28492532 More... NCBI chr10:15,353,460...15,356,392
Ensembl chr10:14,848,980...14,851,879 		JBrowse link
G Rhbdl1 rhomboid like 1 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia 48 ClinVar PMID:25741868 NCBI chr10:15,359,027...15,362,530
Ensembl chr10:14,854,514...14,857,430 		JBrowse link
G Stub1 STIP1 homology and U-box containing protein 1 ISO ClinVar Annotator: match by term: STUB1-related condition | ClinVar Annotator: match by term: Spinocerebellar ataxia 48 OMIM
ClinVar		 PMID:10330192 PMID:24113144 PMID:24719489 PMID:25258038 PMID:25741868 More... NCBI chr10:15,355,278...15,357,559
Ensembl chr10:14,850,765...14,853,046 		JBrowse link
G Wdr24 WD repeat domain 24 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia 48 ClinVar PMID:25741868 NCBI chr10:15,346,835...15,353,384
Ensembl chr10:14,843,728...14,848,864 		JBrowse link
CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Exosc5 exosome component 5 ISO ClinVar Annotator: match by term: Cerebellar ataxia, brain abnormalities, and cardiac conduction defects OMIM
ClinVar		 PMID:25741868 PMID:29302074 PMID:30950035 PMID:32504085 PMID:34089229 NCBI chr 1:90,295,495...90,305,047
Ensembl chr 1:81,166,023...81,177,265 		JBrowse link
cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp8a2 ATPase phospholipid transporting 8A2 ISO
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:224050 | OMIM:610185 | OMIM:613227 | OMIM:615268
ClinVar Annotator: match by term: Dysequilibrium syndrome		 CTD
MouseDO
ClinVar		 PMID:25741868 NCBI chr15:37,993,507...38,526,408
Ensembl chr15:33,819,755...34,350,223 		JBrowse link
G Car8 carbonic anhydrase 8 ISS OMIM:224050 | OMIM:610185 | OMIM:613227 | OMIM:615268 MouseDO NCBI chr 5:26,102,767...26,199,819
Ensembl chr 5:21,305,383...21,402,374 		JBrowse link
G Vldlr very low density lipoprotein receptor ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CEREBELLAR ATAXIA, CONGENITAL, AND MENTAL RETARDATION, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cerebellar disorder, nonprogressive, with mental retardation | ClinVar Annotator: match by term: Dysequilibrium syndrome		 CTD
ClinVar		 PMID:11913577 PMID:16080122 PMID:16199547 PMID:18043714 PMID:18326629 More... NCBI chr 1:234,239,769...234,272,150
Ensembl chr 1:224,814,377...224,845,920 		JBrowse link
cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vldlr very low density lipoprotein receptor ISO ClinVar Annotator: match by term: CEREBELLAR ATAXIA, IMPAIRED INTELLECTUAL DEVELOPMENT, AND DYSEQUILIBRIUM SYNDROME 1 | ClinVar Annotator: match by term: Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 | ClinVar Annotator: match by term: Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1 | ClinVar Annotator: match by term: Cerebellar hypoplasia, VLDLR associated | ClinVar Annotator: match by term: VLDLR-related condition OMIM
ClinVar		 PMID:11913577 PMID:16080122 PMID:16199547 PMID:18043714 PMID:18326629 More... NCBI chr 1:234,239,769...234,272,150
Ensembl chr 1:224,814,377...224,845,920 		JBrowse link
cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wdr81 WD repeat domain 81 ISO ClinVar Annotator: match by term: CEREBELLAR ATAXIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 2 | ClinVar Annotator: match by term: CEREBELLAR ATAXIA, IMPAIRED INTELLECTUAL DEVELOPMENT, AND DYSEQUILIBRIUM SYNDROME 2 | ClinVar Annotator: match by term: Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 | ClinVar Annotator: match by term: WDR81-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:16371500 PMID:21885617 PMID:25558065 PMID:25741868 PMID:26437881 More... NCBI chr10:60,780,268...60,793,671
Ensembl chr10:60,281,972...60,295,296 		JBrowse link
cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp8a2 ATPase phospholipid transporting 8A2 ISO ClinVar Annotator: match by term: ATP8A2-related condition | ClinVar Annotator: match by term: Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 4 | ClinVar Annotator: match by term: Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 OMIM
ClinVar		 PMID:16199547 PMID:18326629 PMID:22892528 PMID:25741868 PMID:28454995 More... NCBI chr15:37,993,507...38,526,408
Ensembl chr15:33,819,755...34,350,223 		JBrowse link
Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Elf2 E74 like ETS transcription factor 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome ClinVar PMID:29628936 NCBI chr 2:137,445,787...137,536,512
Ensembl chr 2:135,294,906...135,385,947 		JBrowse link
G Rfc1 replication factor C subunit 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome | ClinVar Annotator: match by term: RFC1-related condition
DNA:repeats:intron:(AAGGG)n (human)
DNA:repeat:intron:
DNA:repeat:intron: 		OMIM
ClinVar
RGD		 PMID:25741868 PMID:28492532 PMID:35883251 PMID:36478048 PMID:35970061 More... RGD:401940162, RGD:41404728, RGD:41404727 NCBI chr14:43,319,768...43,395,028
Ensembl chr14:42,966,324...43,041,370 		JBrowse link
Cerebellar Atrophy with Seizures and Variable Developmental Delay term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacna2d2 calcium voltage-gated channel auxiliary subunit alpha2delta 2 ISO ClinVar Annotator: match by term: Cerebellar atrophy with seizures and variable developmental delay OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:18487195 PMID:23339110 PMID:24358150 More... NCBI chr 8:116,950,860...117,082,159
Ensembl chr 8:108,072,454...108,203,173 		JBrowse link
G Cyb561d2 cytochrome b561 family, member D2 ISO ClinVar Annotator: match by term: Cerebellar atrophy with seizures and variable developmental delay ClinVar PMID:25741868 PMID:29997391 PMID:30410802 NCBI chr 8:117,091,844...117,094,434
Ensembl chr 8:108,213,205...108,215,759 		JBrowse link
G Heatr5b HEAT repeat containing 5B ISO ClinVar Annotator: match by term: Cerebellar atrophy with seizures and variable developmental delay ClinVar NCBI chr 6:21,995,558...22,075,582
Ensembl chr 6:16,243,461...16,323,435 		JBrowse link
CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnma1 potassium calcium-activated channel subfamily M alpha 1 ISO ClinVar Annotator: match by term: CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES | ClinVar Annotator: match by term: Cerebellar atrophy, developmental delay, and seizures ClinVar
OMIM		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:26467025 PMID:27567911 More... NCBI chr15:351,065...1,057,117
Ensembl chr15:302,214...1,001,198 		JBrowse link
cerebellar atrophy, visual impairment, and psychomotor retardation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Emc1 ER membrane protein complex subunit 1 ISO ClinVar Annotator: match by term: Cerebellar atrophy, visual impairment, and psychomotor retardation | ClinVar Annotator: match by term: EMC1-related disorder OMIM
ClinVar		 PMID:16199547 PMID:23105016 PMID:25741868 PMID:26572623 PMID:26942288 More... NCBI chr 5:156,891,773...156,917,092
Ensembl chr 5:151,608,568...151,633,888 		JBrowse link
cerebellofaciodental syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Brf1 BRF1 general transcription factor IIIB subunit ISO ClinVar Annotator: match by term: BRF1-related condition | ClinVar Annotator: match by term: Cerebellar-facial-dental syndrome OMIM
ClinVar		 PMID:25561519 PMID:25741868 PMID:27748960 PMID:28492532 NCBI chr 6:137,854,055...137,902,629
Ensembl chr 6:132,037,272...132,081,278 		JBrowse link
Charcot-Marie-Tooth Peroneal Muscular Atrophy and Friedreich Ataxia, Combined term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fxn frataxin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth-like disease ClinVar PMID:25741868 PMID:31673878 NCBI chr 1:231,300,457...231,323,989
Ensembl chr 1:221,872,420...221,897,540 		JBrowse link
Charlevoix-Saguenay spastic ataxia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankfy1 ankyrin repeat and FYVE domain containing 1 ISS OMIM:270550 MouseDO NCBI chr10:57,810,781...57,882,495
Ensembl chr10:57,312,246...57,383,964 		JBrowse link
G Sacs sacsin molecular chaperone ISO
ISS		 ClinVar Annotator: match by term: Charlevoix-Saguenay spastic ataxia | ClinVar Annotator: match by term: SACS-related condition | ClinVar Annotator: match by term: SPASTIC ATAXIA 6, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Spastic ataxia of Charlevoix-Saguenay
OMIM:270550
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:8472930 PMID:9536098 PMID:9892370 PMID:10053011 PMID:10610707 More... NCBI chr15:39,461,853...39,546,419
Ensembl chr15:35,285,782...35,370,335 		JBrowse link
G Sgcg sarcoglycan, gamma ISO ClinVar Annotator: match by term: Charlevoix-Saguenay spastic ataxia ClinVar PMID:18414213 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr15:39,564,920...39,611,149
Ensembl chr15:35,386,534...35,435,148 		JBrowse link
G Tgfbr1 transforming growth factor, beta receptor 1 ISO ClinVar Annotator: match by term: Charlevoix-Saguenay spastic ataxia ClinVar PMID:25326637 PMID:28492532 NCBI chr 5:66,449,348...66,506,371
Ensembl chr 5:61,653,233...61,710,777 		JBrowse link
childhood pilocytic astrocytoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mapk1 mitogen activated protein kinase 1 ISO protein:increased expression:brain: RGD PMID:21466243 RGD:13702864 NCBI chr11:97,462,025...97,529,193
Ensembl chr11:83,957,813...84,023,616 		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
Combined Cerebellar and Peripheral Ataxia with Hearing Loss and Diabetes Mellitus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnajc3 DnaJ heat shock protein family (Hsp40) member C3 ISO ClinVar Annotator: match by term: Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus | ClinVar Annotator: match by term: DNAJC3-related condition OMIM
ClinVar		 PMID:25466870 PMID:25741868 PMID:28492532 PMID:28940199 PMID:32738013 More... NCBI chr15:102,432,667...102,475,643
Ensembl chr15:96,025,624...96,065,181 		JBrowse link
G Dnajc6 DnaJ heat shock protein family (Hsp40) member C6 ISO ClinVar Annotator: match by term: Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus ClinVar PMID:2256350 PMID:22563501 PMID:24220513 PMID:32214227 PMID:33983693 NCBI chr 5:121,232,532...121,398,775
Ensembl chr 5:116,119,676...116,283,448 		JBrowse link
G Mafa MAF bZIP transcription factor A ISO ClinVar Annotator: match by term: Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus ClinVar PMID:25741868 NCBI chr 7:109,313,021...109,315,813
Ensembl chr 7:107,433,605...107,434,690 		JBrowse link
CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Frmd4a FERM domain containing 4A ISO ClinVar Annotator: match by term: Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia | ClinVar Annotator: match by term: FRMD4A-related condition OMIM
ClinVar		 PMID:25388005 PMID:25741868 PMID:28492532 NCBI chr17:78,577,062...79,167,924
Ensembl chr17:73,667,789...74,258,687 		JBrowse link
G Prpf18 pre-mRNA processing factor 18 ISO ClinVar Annotator: match by term: FRMD4A-related condition ClinVar PMID:28492532 NCBI chr17:78,539,004...78,570,483
Ensembl chr17:73,630,571...73,690,979 		JBrowse link
Currarino syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc5 ATP binding cassette subfamily C member 5 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr11:93,975,579...94,071,659
Ensembl chr11:80,473,872...80,567,253 		JBrowse link
G Abcf3 ATP binding cassette subfamily F member 3 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr11:93,844,863...93,856,595
Ensembl chr11:80,339,977...80,352,211 		JBrowse link
G Actl6a actin-like 6A ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr 2:117,413,206...117,436,758
Ensembl chr 2:115,492,285...115,508,401 		JBrowse link
G Alg3 ALG3, alpha-1,3- mannosyltransferase ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr11:93,804,859...93,810,403
Ensembl chr11:80,300,498...80,307,912 		JBrowse link
G Ap2m1 adaptor related protein complex 2 subunit mu 1 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr11:93,859,690...93,868,600
Ensembl chr11:80,328,041...80,364,140 		JBrowse link
G Atp11b ATPase phospholipid transporting 11B (putative) ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr 2:120,513,535...120,619,249
Ensembl chr 2:118,585,342...118,690,232 		JBrowse link
G B3gnt5 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr11:94,645,480...94,657,584
Ensembl chr11:81,140,599...81,156,166 		JBrowse link
G C11h3orf70 similar to human chromosome 3 open reading frame 70 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr11:79,345,857...79,396,140
Ensembl chr11:79,345,304...79,396,142 		JBrowse link
G Camk2n2 calcium/calmodulin-dependent protein kinase II inhibitor 2 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr11:93,792,112...93,796,153 JBrowse link
G Ccdc39 coiled-coil domain 39 molecular ruler complex subunit ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr 2:118,593,881...118,631,584
Ensembl chr 2:116,665,261...116,703,350 		JBrowse link
G Chrd chordin ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr11:93,676,400...93,685,584
Ensembl chr11:80,171,994...80,180,673 		JBrowse link
G Clcn2 chloride voltage-gated channel 2 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr11:93,702,382...93,716,059
Ensembl chr11:80,198,153...80,211,657 		JBrowse link
G Dcun1d1 defective in cullin neddylation 1 domain containing 1 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr 2:120,649,445...120,700,879
Ensembl chr 2:118,721,822...118,772,602 		JBrowse link
G Dnajc19 DnaJ heat shock protein family (Hsp40) member C19 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr 2:118,851,497...118,875,813
Ensembl chr 2:116,923,272...116,945,264 		JBrowse link
G Dvl3 dishevelled segment polarity protein 3 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr11:93,869,834...93,887,013
Ensembl chr11:80,366,117...80,382,462 		JBrowse link
G Ece2 endothelin-converting enzyme 2 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr11:93,767,559...93,782,896
Ensembl chr11:80,263,162...80,278,428 		JBrowse link
G Eef1akmt4 EEF1A lysine methyltransferase 4 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr11:93,796,506...93,804,061
Ensembl chr11:80,291,978...80,299,659 		JBrowse link
G Ehhadh enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr11:92,746,409...92,779,647
Ensembl chr11:79,241,938...79,275,188 		JBrowse link
G Eif2b5 eukaryotic translation initiation factor 2B subunit epsilon ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr11:93,898,814...93,909,431
Ensembl chr11:80,394,433...80,404,419 		JBrowse link
G Eif4g1 eukaryotic translation initiation factor 4 gamma 1 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr11:93,726,322...93,746,387
Ensembl chr11:80,221,919...80,241,941 		JBrowse link
G Ephb3 Eph receptor B3 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr11:93,345,098...93,363,775
Ensembl chr11:79,840,668...79,859,370 		JBrowse link
G Fam131a family with sequence similarity 131, member A ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr11:93,715,979...93,725,930
Ensembl chr11:80,211,745...80,221,511 		JBrowse link
G Fxr1 FMR1 autosomal homolog 1 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr 2:118,812,287...118,865,813
Ensembl chr 2:116,884,248...116,937,590 		JBrowse link
G Gnb4 G protein subunit beta 4 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr 2:117,289,112...117,329,050
Ensembl chr 2:115,364,918...115,400,579 		JBrowse link
G Igf2bp2 insulin-like growth factor 2 mRNA binding protein 2 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr11:92,378,908...92,478,893
Ensembl chr11:78,874,414...78,974,377 		JBrowse link
G Kcnmb2 potassium calcium-activated channel subfamily M regulatory beta subunit 2 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr 2:116,598,511...116,903,886
Ensembl chr 2:114,935,976...114,975,173 		JBrowse link
G Kcnmb3 potassium calcium-activated channel subfamily M regulatory beta subunit 3 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr 2:117,184,165...117,198,519
Ensembl chr 2:115,253,761...115,270,142 		JBrowse link
G Klhl24 kelch-like family member 24 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr11:94,348,024...94,382,085
Ensembl chr11:80,846,755...80,877,636 		JBrowse link
G Klhl6 kelch-like family member 6 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr11:94,475,262...94,514,653
Ensembl chr11:80,970,917...81,009,677 		JBrowse link
G Lamp3 lysosomal-associated membrane protein 3 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr11:94,657,817...94,726,451
Ensembl chr11:81,193,649...81,221,784 		JBrowse link
G Liph lipase H ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr11:79,032,229...79,081,625
Ensembl chr11:79,033,312...79,081,625 		JBrowse link
G LOC120095726 small nucleolar RNA SNORA63 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr11:77,766,654...77,766,782
Ensembl chr11:77,766,654...77,766,782 		JBrowse link
G Map3k13 mitogen-activated protein kinase kinase kinase 13 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr11:92,596,436...92,741,717
Ensembl chr11:79,097,247...79,235,181 		JBrowse link
G Map6d1 MAP6 domain containing 1 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr11:94,238,552...94,244,781
Ensembl chr11:80,734,148...80,740,377 		JBrowse link
G Mccc1 methylcrotonyl-CoA carboxylase subunit 1 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr 2:120,727,313...120,779,334
Ensembl chr 2:118,799,150...118,851,222 		JBrowse link
G Mfn1 mitofusin 1 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr 2:117,240,525...117,288,017
Ensembl chr 2:115,313,401...115,359,640 		JBrowse link
G Mir1224 microRNA 1224 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr11:93,811,291...93,811,375
Ensembl chr11:80,306,902...80,306,986 		JBrowse link
G Mnx1 motor neuron and pancreas homeobox 1 ISO ClinVar Annotator: match by term: Currarino triad | ClinVar Annotator: match by term: MNX1-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:7550324 PMID:9843207 PMID:10631160 PMID:10749657 PMID:11528505 More... NCBI chr 4:6,541,645...6,546,604
Ensembl chr 4:5,866,506...5,871,465 		JBrowse link
G Mrpl47 mitochondrial ribosomal protein L47 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr 2:117,436,199...117,447,790
Ensembl chr 2:115,500,264...115,518,994 		JBrowse link
G Ndufb5 NADH:ubiquinone oxidoreductase subunit B5 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr 2:117,447,605...117,461,943
Ensembl chr 2:115,519,154...115,533,589 		JBrowse link
G Parl presenilin associated, rhomboid-like ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr11:94,097,559...94,124,915
Ensembl chr11:80,593,192...80,620,506 		JBrowse link
G Pcsk5 proprotein convertase subtilisin/kexin type 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18519639 NCBI chr 1:224,263,823...224,694,350
Ensembl chr 1:214,837,927...215,267,600 		JBrowse link
G Pex5l peroxisomal biogenesis factor 5-like ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr 2:117,623,199...117,836,772
Ensembl chr 2:115,700,972...115,913,628 		JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr 2:117,103,643...117,177,411
Ensembl chr 2:115,174,984...115,249,032 		JBrowse link
G Polr2h RNA polymerase II, I and III subunit H ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr11:93,696,423...93,701,902
Ensembl chr11:80,192,032...80,197,515
Ensembl chr10:80,192,032...80,197,515 		JBrowse link
G Psmd2 proteasome 26S subunit ubiquitin receptor, non-ATPase 2 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr11:93,752,761...93,763,388
Ensembl chr11:80,248,364...80,259,043 		JBrowse link
G Senp2 SUMO specific peptidase 2 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr11:92,487,259...92,522,795
Ensembl chr11:78,981,432...79,018,238 		JBrowse link
G Snord66 small nucleolar RNA, C/D box 66 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr11:80,230,152...80,230,226
Ensembl chr11:80,230,152...80,230,226 		JBrowse link
G Sox2 SRY-box transcription factor 2 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr 2:119,465,131...119,467,542
Ensembl chr 2:117,536,929...117,539,338 		JBrowse link
G Thpo thrombopoietin ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 Ensembl chr11:80,182,820...80,188,167 JBrowse link
G Tmem41a transmembrane protein 41a ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr11:92,588,497...92,595,105
Ensembl chr11:79,084,001...79,090,613 		JBrowse link
G Ttc14 tetratricopeptide repeat domain 14 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr 2:116,653,543...116,665,072
Ensembl chr 2:116,653,595...116,664,158 		JBrowse link
G Usp13 ubiquitin specific peptidase 13 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr 2:117,502,811...117,617,049
Ensembl chr 2:115,577,091...115,686,222 		JBrowse link
G Vps8 VPS8 subunit of CORVET complex ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr11:92,906,702...93,140,844
Ensembl chr11:79,402,239...79,634,133 		JBrowse link
G Vwa5b2 von Willebrand factor A domain containing 5B2 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr11:93,810,456...93,827,609
Ensembl chr11:80,306,350...80,323,220 		JBrowse link
G Yeats2 YEATS domain containing 2 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr11:94,247,538...94,333,652
Ensembl chr11:80,743,134...80,829,208 		JBrowse link
G Zfp639 zinc finger protein 639 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr 2:117,220,806...117,231,132
Ensembl chr 2:115,292,516...115,303,628 		JBrowse link
G Zmat3 zinc finger, matrin type 3 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr 2:117,034,517...117,066,141
Ensembl chr 2:115,106,966...115,136,863 		JBrowse link
dentatorubral-pallidoluysian atrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atn1 atrophin 1 ISO ClinVar Annotator: match by term: Dentatorubral-pallidoluysian atrophy OMIM
ClinVar		 PMID:25741868 NCBI chr 4:159,240,573...159,254,378
Ensembl chr 4:157,551,276...157,568,132 		JBrowse link
episodic ataxia type 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacnb4 calcium voltage-gated channel auxiliary subunit beta 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CACNB4-related condition | ClinVar Annotator: match by term: Episodic ataxia type 5		 CTD
OMIM
ClinVar		 PMID:10762541 PMID:25741868 PMID:26467025 PMID:27843123 PMID:28166811 More... NCBI chr 3:57,315,900...57,578,271
Ensembl chr 3:36,910,427...37,168,944 		JBrowse link
episodic ataxia type 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc1a3 solute carrier family 1 member 3 ISO ClinVar Annotator: match by term: Episodic ataxia type 6 | ClinVar Annotator: match by term: SLC1A3-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:16116111 PMID:19139306 PMID:23107647 PMID:24214974 PMID:25497598 More... NCBI chr 2:59,482,707...59,557,808
Ensembl chr 2:57,755,497...57,830,605 		JBrowse link
familial hemiplegic migraine 1 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: Migraine, familial hemiplegic 1, with progressive cerebellar ataxia | ClinVar Annotator: match by term: Migraine, familial hemiplegic, 1 | ClinVar Annotator: match by term: Migraine, sporadic hemiplegic, with progressive cerebellar ataxia | ClinVar Annotator: match by term: Sporadic hemiplegic migraine
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:7537420 PMID:8734765 PMID:8898206 PMID:9329229 PMID:9488686 More... NCBI chr19:40,425,560...40,724,810
Ensembl chr19:23,520,741...23,823,225 		JBrowse link
G Wdr45 WD repeat domain 45 ISO ClinVar Annotator: match by term: Migraine, familial hemiplegic, 1 ClinVar PMID:25741868 NCBI chr  X:17,448,195...17,454,117
Ensembl chr  X:14,776,293...14,782,202 		JBrowse link
Friedreich ataxia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agtr1a angiotensin II receptor, type 1a ISO DNA:SNP: :rs5186(human) RGD PMID:21771600 RGD:401717567 NCBI chr17:34,383,397...34,435,523
Ensembl chr17:34,174,429...34,226,946 		JBrowse link
G Fxn frataxin treatment
onset		 ISO
ISS		 DNA:point mutation:exon:p.G130V
ClinVar Annotator: match by term: Friedreich ataxia
DNA:repeat,deletion:intron,exon:GAA(human)
CTD Direct Evidence: marker/mechanism
DNA:repeat:intron:GAA (human)		 ClinVar
MouseDO
CTD
RGD		 PMID:8596916 PMID:8751856 PMID:9090376 PMID:9150176 PMID:9700204 More... RGD:1598961, RGD:401793713, RGD:401793711, RGD:401793708, RGD:401793707, RGD:401717566, RGD:1582636 NCBI chr 1:231,300,457...231,323,989
Ensembl chr 1:221,872,420...221,897,540 		JBrowse link
G Mt-nd1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 ISO DNA:missense mutation:cds:m.3696C>T (human) RGD PMID:18807169 RGD:5490251 NCBI chr MT:2,740...3,694
Ensembl chr MT:2,740...3,694 		JBrowse link
Friedreich ataxia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fxn frataxin ISO ClinVar Annotator: match by term: FXN-related disorder | ClinVar Annotator: match by term: Friedreich ataxia 1
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:8596916 PMID:8751856 PMID:9090376 PMID:9700204 PMID:9737785 More... NCBI chr 1:231,300,457...231,323,989
Ensembl chr 1:221,872,420...221,897,540 		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
Galloway-Mowat syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gon7 GON7 subunit of KEOPS complex ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome ClinVar PMID:25741868 PMID:31481669 NCBI chr 6:127,647,389...127,663,276
Ensembl chr 6:121,885,694...121,898,643
Ensembl chr 6:121,885,694...121,898,643 		JBrowse link
G Lage3 L antigen family, member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28805828 NCBI chr  X:157,289,497...157,290,920
Ensembl chr  X:152,138,218...152,139,632 		JBrowse link
G Nup133 nucleoporin 133 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome ClinVar PMID:25741868 PMID:28106320 PMID:28492532 NCBI chr19:68,789,065...68,838,692
Ensembl chr19:51,891,629...51,941,239 		JBrowse link
G Osgep O-sialoglycoprotein endopeptidase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Galloway-Mowat syndrome		 CTD
ClinVar		 PMID:17897280 PMID:25741868 PMID:28272532 PMID:28492532 PMID:28805828 More... NCBI chr15:26,610,694...26,618,113
Ensembl chr15:24,137,153...24,144,568 		JBrowse link
G Tp53rka Tp53 tumor protein p53 regulating kinase A ISO CTD Direct Evidence: marker/mechanism CTD PMID:28805828 NCBI chr 3:174,638,962...174,645,198
Ensembl chr 3:154,220,851...154,224,328 		JBrowse link
G Tprkb Tp53rk binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:28805828 NCBI chr 4:119,900,374...119,915,374
Ensembl chr 4:118,342,945...118,357,901 		JBrowse link
G Wdr4 WD repeat domain 4 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome ClinVar PMID:25741868 PMID:30079490 NCBI chr20:9,588,532...9,604,718
Ensembl chr20:9,587,207...9,603,581 		JBrowse link
G Wdr73 WD repeat domain 73 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Galloway-Mowat syndrome		 CTD
ClinVar		 PMID:25466283 PMID:25741868 NCBI chr 1:144,269,561...144,277,707
Ensembl chr 1:134,860,180...134,868,479 		JBrowse link
G Zfp592 zinc finger protein 592 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20531441 NCBI chr 1:144,355,227...144,411,686
Ensembl chr 1:134,967,783...135,002,443 		JBrowse link
Galloway-Mowat syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eng endoglin ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 1 ClinVar PMID:12673790 PMID:15879500 PMID:21158752 PMID:23399955 PMID:24055113 More... NCBI chr 3:36,332,190...36,370,324
Ensembl chr 3:15,934,518...15,973,230 		JBrowse link
G Wdr73 WD repeat domain 73 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 1 | ClinVar Annotator: match by term: WDR73-related condition OMIM
ClinVar		 PMID:11391656 PMID:12030328 PMID:16217710 PMID:20531441 PMID:25466283 More... NCBI chr 1:144,269,561...144,277,707
Ensembl chr 1:134,860,180...134,868,479 		JBrowse link
G Zfp592 zinc finger protein 592 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 1 ClinVar PMID:12030328 PMID:20531441 PMID:25741868 PMID:26123727 NCBI chr 1:144,355,227...144,411,686
Ensembl chr 1:134,967,783...135,002,443 		JBrowse link
Galloway-Mowat Syndrome 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C5h1orf122 similar to human chromosome 1 open reading frame 122 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 10 | ClinVar Annotator: match by term: YRDC-related condition ClinVar PMID:28492532 PMID:31481669 NCBI chr 5:142,393,691...142,394,804
Ensembl chr 5:137,108,633...137,110,929 		JBrowse link
G Yrdc yrdC N(6)-threonylcarbamoyltransferase domain containing ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 10 | ClinVar Annotator: match by term: YRDC-related condition OMIM
ClinVar		 PMID:28492532 PMID:31481669 PMID:34545459 NCBI chr 5:142,394,833...142,399,798
Ensembl chr 5:137,110,279...137,115,120 		JBrowse link
Galloway-Mowat syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lage3 L antigen family, member 3 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 2, X-linked | ClinVar Annotator: match by term: LAGE3-related condition OMIM
ClinVar		 PMID:12693786 PMID:25741868 PMID:28492532 PMID:28805828 NCBI chr  X:157,289,497...157,290,920
Ensembl chr  X:152,138,218...152,139,632 		JBrowse link
Galloway-Mowat syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Osgep O-sialoglycoprotein endopeptidase ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 3 | ClinVar Annotator: match by term: OSGEP-related condition OMIM
ClinVar		 PMID:11519896 PMID:15966048 PMID:17897280 PMID:18019379 PMID:21791310 More... NCBI chr15:26,610,694...26,618,113
Ensembl chr15:24,137,153...24,144,568 		JBrowse link
Galloway-Mowat syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tp53rka Tp53 tumor protein p53 regulating kinase A ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 4 | ClinVar Annotator: match by term: TP53RK-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:28805828 PMID:32581362 PMID:36873107 NCBI chr 3:174,638,962...174,645,198
Ensembl chr 3:154,220,851...154,224,328 		JBrowse link
Galloway-Mowat syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tprkb Tp53rk binding protein ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 5 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:28805828 PMID:29127259 NCBI chr 4:119,900,374...119,915,374
Ensembl chr 4:118,342,945...118,357,901 		JBrowse link
Galloway-Mowat Syndrome 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wdr4 WD repeat domain 4 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 6 OMIM
ClinVar		 PMID:25741868 PMID:26416026 PMID:28492532 PMID:28617965 PMID:29597095 More... NCBI chr20:9,588,532...9,604,718
Ensembl chr20:9,587,207...9,603,581 		JBrowse link
Galloway-Mowat Syndrome 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nup107 nucleoporin 107 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 7 OMIM
ClinVar		 PMID:25558065 PMID:25741868 PMID:28117080 PMID:28280135 PMID:28492532 More... NCBI chr 7:55,239,610...55,285,050
Ensembl chr 7:53,353,743...53,398,370 		JBrowse link
Galloway-Mowat Syndrome 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nup133 nucleoporin 133 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 8 | ClinVar Annotator: match by term: NUP133-related condition OMIM
ClinVar		 PMID:11793129 PMID:25741868 PMID:28492532 PMID:30427554 NCBI chr19:68,789,065...68,838,692
Ensembl chr19:51,891,629...51,941,239 		JBrowse link
Galloway-Mowat Syndrome 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gon7 GON7 subunit of KEOPS complex ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 9 OMIM
ClinVar		 PMID:25741868 PMID:31481669 NCBI chr 6:127,647,389...127,663,276
Ensembl chr 6:121,885,694...121,898,643
Ensembl chr 6:121,885,694...121,898,643 		JBrowse link
ganglioglioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bap1 BRCA1 associated deubiquitinase 1 ISO ClinVar Annotator: match by term: Ganglioglioma ClinVar PMID:25741868 PMID:28492532 NCBI chr16:6,453,126...6,461,952
Ensembl chr16:6,446,709...6,455,535 		JBrowse link
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Childhood ganglioglioma ClinVar PMID:19363522 PMID:19794125 PMID:21190184 PMID:21343559 PMID:21716161 More... NCBI chr 4:69,329,772...69,476,931
Ensembl chr 4:68,384,649...68,510,463 		JBrowse link
Gillespie syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Itpr1 inositol 1,4,5-trisphosphate receptor, type 1 ISO ClinVar Annotator: match by term: Aniridia-cerebellar ataxia-intellectual disability syndrome | ClinVar Annotator: match by term: Gillespie syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:7952360 PMID:9536098 PMID:10664581 PMID:17558851 PMID:17576681 More... NCBI chr 4:142,743,401...143,066,505
Ensembl chr 4:141,187,418...141,510,491 		JBrowse link
G Pax6 paired box 6 ISO ClinVar Annotator: match by term: Gillespie syndrome ClinVar PMID:25741868 PMID:26899008 NCBI chr 3:112,590,034...112,611,771
Ensembl chr 3:92,135,637...92,157,014 		JBrowse link
Gordon Holmes syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pnpla6 patatin-like phospholipase domain containing 6 ISO ClinVar Annotator: match by term: Cerebellar ataxia-hypogonadism syndrome ClinVar PMID:25741868 NCBI chr12:6,372,284...6,401,632
Ensembl chr12:1,560,363...1,603,734 		JBrowse link
G Rnf216 ring finger protein 216 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cerebellar ataxia-hypogonadism syndrome | ClinVar Annotator: match by term: RNF216-related condition		 OMIM
CTD
ClinVar		 PMID:11932290 PMID:23656588 PMID:25741868 PMID:25841028 PMID:28492532 More... NCBI chr12:16,568,327...16,689,868
Ensembl chr12:11,454,797...11,576,304 		JBrowse link
GRID2-related spinocerebellar ataxia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Grid2 glutamate ionotropic receptor delta type subunit 2 ISO ClinVar Annotator: match by term: GRID2-related condition ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:93,745,165...95,222,354
Ensembl chr 4:92,415,230...93,889,355 		JBrowse link
HTLV-1-associated myelopathy/tropical spastic paraparesis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C3 complement C3 ISO protein:increased processing:plasma RGD PMID:7561187 RGD:11040775 NCBI chr 9:2,174,412...2,201,339
Ensembl chr 9:2,087,437...2,114,429 		JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 ISO mRNA:decreased expression: T cell RGD PMID:20945034 RGD:38549361 NCBI chr 9:69,812,859...69,819,959
Ensembl chr 9:62,319,312...62,324,963 		JBrowse link
G Foxp3 forkhead box P3 disease_progression ISO mRNA:decreased expression: T cell RGD PMID:28101786 PMID:20945034 RGD:38456004, RGD:38549361 NCBI chr  X:17,580,380...17,601,181
Ensembl chr  X:14,908,494...14,923,838 		JBrowse link
G Hnrnpa1 heterogeneous nuclear ribonucleoprotein A1 ISO RGD PMID:11984596 RGD:10045967 NCBI chr 7:136,253,633...136,260,085
Ensembl chr 7:134,375,150...134,381,609 		JBrowse link
G Ifnl1 interferon, lambda 1 ISO associated with HTLV-I Infections;mRNA:decreased expression:peripheral blood mononuclear cell (human) RGD PMID:29990995 RGD:126848769 NCBI chr 1:92,926,184...92,927,830
Ensembl chr 1:83,798,703...83,800,235 		JBrowse link
G Il21 interleukin 21 ISO protein:decreased expression:blood serum (human) RGD PMID:28378248 RGD:127285561 NCBI chr 2:122,045,240...122,055,142
Ensembl chr 2:120,119,444...120,126,996 		JBrowse link
G Il27 interleukin 27 ISO associated with HTLV-I Infections;mRNA:decreased expression:blood (human) RGD PMID:24041428 RGD:126790519 NCBI chr 1:190,603,684...190,609,292
Ensembl chr 1:181,173,372...181,178,582 		JBrowse link
G Klrk1 killer cell lectin like receptor K1 susceptibility ISO DNA:SNPs:3'utr, 5'utr: (rs1049174,rs12821887,rs12819494) (human) RGD PMID:22170554 RGD:39018559 NCBI chr 4:164,767,377...164,778,453
Ensembl chr 4:163,081,927...163,092,459 		JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO associated with Sjogren's Syndrome RGD PMID:10464559 RGD:8657078 NCBI chr19:30,327,643...30,355,856
Ensembl chr19:14,154,657...14,182,870 		JBrowse link
G Nfkb1 nuclear factor kappa B subunit 1 susceptibility ISO DNA:SNP:5'utr: (rs3138045) (human) RGD PMID:22170554 RGD:39018559 NCBI chr 2:226,689,745...226,805,897
Ensembl chr 2:224,016,214...224,110,404 		JBrowse link
G RT1-Bb RT1 class II, locus Bb susceptibility ISO RGD PMID:25729550 RGD:36174012 NCBI chr20:4,598,475...4,604,118
Ensembl chr20:4,596,559...4,607,597 		JBrowse link
G Tnfrsf18 TNF receptor superfamily member 18 disease_progression ISO mRNA:decreased expression: T cell RGD PMID:28101786 PMID:20945034 RGD:38456004, RGD:38549361 NCBI chr 5:171,901,734...171,904,578
Ensembl chr 5:166,618,969...166,622,353 		JBrowse link
G Zeb1 zinc finger E-box binding homeobox 1 ISS OMIM:159580 MouseDO NCBI chr17:56,644,397...56,811,155
Ensembl chr17:51,948,948...52,115,214 		JBrowse link
hypomyelinating leukodystrophy 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mutyh mutY DNA glycosylase ISO ClinVar Annotator: match by term: Endosteal sclerosis-cerebellar hypoplasia syndrome ClinVar PMID:25326637 PMID:25741868 PMID:28492532 NCBI chr 5:135,510,666...135,522,777
Ensembl chr 5:130,274,122...130,286,146 		JBrowse link
G Polr3a RNA polymerase III subunit A ISO ClinVar Annotator: match by term: Endosteal sclerosis-cerebellar hypoplasia syndrome ClinVar PMID:21855841 PMID:22855961 PMID:25741868 PMID:27029625 PMID:28447407 More... NCBI chr16:56,066...95,060
Ensembl chr16:49,521...88,172 		JBrowse link
G Polr3b RNA polymerase III subunit B ISO ClinVar Annotator: match by term: Endosteal sclerosis-cerebellar hypoplasia syndrome | ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism | ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18851904 PMID:22036171 More... NCBI chr 7:20,926,866...21,030,133
Ensembl chr 7:19,038,552...19,142,598 		JBrowse link
infantile cerebellar-retinal degeneration term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aco2 aconitase 2 ISO ClinVar Annotator: match by term: Infantile cerebellar-retinal degeneration OMIM
ClinVar		 PMID:2854533 PMID:3248392 PMID:9536098 PMID:17576681 PMID:22405087 More... NCBI chr 7:115,265,816...115,308,931
Ensembl chr 7:113,385,646...113,428,261 		JBrowse link
G Polr3h RNA polymerase III subunit H ISO ClinVar Annotator: match by term: Infantile cerebellar-retinal degeneration ClinVar PMID:2854533 PMID:24088041 PMID:25351951 PMID:25741868 PMID:26992325 More... NCBI chr 7:115,309,571...115,319,881
Ensembl chr 7:113,429,451...113,439,778 		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
ITM2B-related cerebral amyloid angiopathy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Itm2b integral membrane protein 2B ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Heredopathia ophthalmootoencephalica		 OMIM
CTD
ClinVar		 PMID:5457846 PMID:10781099 PMID:25741868 PMID:28492532 PMID:31719132 NCBI chr15:54,955,549...54,978,455
Ensembl chr15:48,546,001...48,568,917 		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
Machado-Joseph disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atxn3 ataxin 3 susceptibility
treatment		 ISO ClinVar Annotator: match by term: Azorean disease
CTD Direct Evidence: marker/mechanism
protein:increased degradation, altered localization:neuron, nucleus		 OMIM
ClinVar
CTD
RGD		 PMID:25741868 PMID:31378764 PMID:7874163 PMID:18841197 PMID:18385100 More... RGD:1599419, RGD:11558010, RGD:5131159, RGD:11557998, RGD:11557997 NCBI chr 6:126,837,107...126,872,919
Ensembl chr 6:121,074,448...121,107,902 		JBrowse link
G Becn1 beclin 1 ISO protein:decreased expression:brain
protein:decreased expression:fibroblast		 RGD PMID:21478185 PMID:21478185 RGD:6483072, RGD:6483072 NCBI chr10:86,731,649...86,747,002
Ensembl chr10:86,231,388...86,246,742 		JBrowse link
G S100b S100 calcium binding protein B ISO protein:increased expression:serum RGD PMID:21743141 RGD:5508762 NCBI chr20:12,372,345...12,381,159
Ensembl chr20:12,372,881...12,394,743 		JBrowse link
G Slc18a2 solute carrier family 18 member A2 IEP protein:decreased expression:substantia nigra (rat) RGD PMID:18385100 RGD:5131159 NCBI chr 1:268,399,815...268,435,229
Ensembl chr 1:258,413,959...258,448,325 		JBrowse link
G Th tyrosine hydroxylase IEP protein:decreased expression:substantia nigra (rat) RGD PMID:18385100 RGD:5131159 NCBI chr 1:207,500,959...207,508,276
Ensembl chr 1:198,071,503...198,109,767 		JBrowse link
Marinesco-Sjogren syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eif2a eukaryotic translation initiation factor 2A ISO ClinVar Annotator: match by term: Marinesco-Sjögren syndrome ClinVar PMID:25741868 NCBI chr 2:144,911,247...144,944,705
Ensembl chr 2:142,761,416...142,795,068 		JBrowse link
G Sil1 SIL1 nucleotide exchange factor ISO ClinVar Annotator: match by term: Marinesco-Sjogren Syndrome | ClinVar Annotator: match by term: Marinesco-Sjogren-Garland Syndrome | ClinVar Annotator: match by term: Marinesco-Sjögren syndrome ClinVar PMID:9536098 PMID:10665502 PMID:12692552 PMID:16199547 PMID:16282977 More... NCBI chr18:27,146,526...27,378,459
Ensembl chr18:26,872,429...27,104,332 		JBrowse link
mitochondrial DNA depletion syndrome 16B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Milr1 mast cell immunoglobulin-like receptor 1 ISO ClinVar Annotator: match by term: Mitochondrial dna depletion syndrome 16B (neuroophthalmic type) ClinVar PMID:25741868 PMID:28492532 PMID:31778857 NCBI chr10:92,184,002...92,205,001
Ensembl chr10:91,687,831...91,705,282 		JBrowse link
G Polg2 DNA polymerase gamma 2, accessory subunit ISO ClinVar Annotator: match by term: Mitochondrial dna depletion syndrome 16B (neuroophthalmic type) OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:31778857 NCBI chr10:92,212,303...92,222,849
Ensembl chr10:91,712,586...91,723,008 		JBrowse link
mitochondrial DNA depletion syndrome 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pitrm1 pitrilysin metallopeptidase 1 ISO ClinVar Annotator: match by term: Infantile onset spinocerebellar ataxia ClinVar PMID:29764912 NCBI chr17:68,705,699...68,737,350
Ensembl chr17:63,795,671...63,839,907 		JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: mitochondrial hepatopathy ClinVar PMID:25741868 NCBI chr 1:142,792,119...142,808,933
Ensembl chr 1:133,382,766...133,398,567 		JBrowse link
G Twnk twinkle mtDNA helicase ISO ClinVar Annotator: match by term: Infantile onset spinocerebellar ataxia | ClinVar Annotator: match by term: OHAHA SYNDROME | ClinVar Annotator: match by term: mitochondrial hepatopathy OMIM
ClinVar		 PMID:11431692 PMID:12707443 PMID:12872260 PMID:16135556 PMID:17722119 More... NCBI chr 1:253,817,074...253,823,958
Ensembl chr 1:243,868,330...243,874,802 		JBrowse link
Mitochondrial Myopathy, and Ataxia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Msto1 misato mitochondrial distribution and morphology regulator 1 ISO ClinVar Annotator: match by term: MSTO1-related disorder | ClinVar Annotator: match by term: Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome OMIM
ClinVar		 PMID:16199547 PMID:25741868 PMID:28492532 PMID:28544275 PMID:28554942 More... NCBI chr 2:176,603,755...176,608,037
Ensembl chr 2:174,301,861...174,310,216 		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
myelitis 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: Myelitis ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr19:40,425,560...40,724,810
Ensembl chr19:23,520,741...23,823,225 		JBrowse link
G RT1-Hb-ps1 RT1 class II, locus Hb, pseudogene 1 susceptibility ISO DNA:polymorphism: :HLA-DPB1*0201 (human) RGD PMID:22884298 RGD:150429795 NCBI chr20:4,777,494...4,781,486
Ensembl chr20:4,774,650...4,780,618 		JBrowse link
Myelocerebellar Disorder term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Samd9 sterile alpha motif domain containing 9 ISO ClinVar Annotator: match by term: Ataxia-pancytopenia syndrome ClinVar NCBI chr 4:32,119,318...32,139,008
Ensembl chr 4:31,164,510...31,184,322 		JBrowse link
G Samd9l sterile alpha motif domain containing 9 like ISO ClinVar Annotator: match by term: Ataxia-pancytopenia syndrome | ClinVar Annotator: match by term: Myelocerebellar disorder
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:283689 PMID:2569483 PMID:25741868 PMID:27259050 PMID:28202457 More... NCBI chr 4:32,316,748...32,331,112
Ensembl chr 4:31,361,669...31,376,415 		JBrowse link
myelomeningocele term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh1a2 aldehyde dehydrogenase 1 family, member A2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16237707 NCBI chr 8:80,758,641...80,837,891
Ensembl chr 8:71,877,850...71,957,107 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16602021 NCBI chr 5:163,748,346...163,768,141
Ensembl chr 5:158,465,296...158,483,797 		JBrowse link
G Slc2a1 solute carrier family 2 member 1 ISO DNA:deletion:intron:rs35565219 (human)
DNA:SNPs, haplotype: :rs710218, rs2229682 (human)		 RGD PMID:21135204 PMID:23427181 RGD:11070819, RGD:12879498 NCBI chr 5:138,002,522...138,030,742
Ensembl chr 5:132,717,196...132,745,416 		JBrowse link
G Sod1 superoxide dismutase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22972774 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:22972774 NCBI chr 1:50,043,323...50,050,168
Ensembl chr 1:47,636,528...47,645,189 		JBrowse link
NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATAXIA AND COGNITIVE DECLINE term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Caprin1 cell cycle associated protein 1 ISO ClinVar Annotator: match by term: Neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline OMIM
ClinVar		 PMID:25741868 PMID:36136249 NCBI chr 3:110,606,489...110,685,408
Ensembl chr 3:90,153,620...90,230,502 		JBrowse link
neurodevelopmental disorder with cerebellar atrophy and motor dysfunction term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gemin5 gem (nuclear organelle) associated protein 5 ISO ClinVar Annotator: match by term: GEMIN5-related condition | ClinVar Annotator: match by term: Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction OMIM
ClinVar		 PMID:23892092 PMID:25741868 PMID:28492532 PMID:33963192 NCBI chr10:42,797,975...42,843,356
Ensembl chr10:42,297,515...42,342,892 		JBrowse link
NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agtpbp1 ATP/GTP binding carboxypeptidase 1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with cerebellar atrophy and with or without seizures ClinVar PMID:25741868 PMID:30420557 NCBI chr17:5,092,108...5,244,414
Ensembl chr17:5,120,609...5,238,869 		JBrowse link
G Brat1 BRCA1-associated ATM activator 1 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES | ClinVar Annotator: match by term: Neurodevelopmental disorder with cerebellar atrophy and with or without seizures OMIM
ClinVar		 PMID:16199547 PMID:16452482 PMID:22279524 PMID:25500575 PMID:25741868 More... NCBI chr12:19,043,004...19,065,686
Ensembl chr12:13,928,898...13,941,248 		JBrowse link
Neurodevelopmental Disorder with Microcephaly, Cerebral Atrophy, and Visual Impairment term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dohh deoxyhypusine hydroxylase ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment OMIM
ClinVar		 PMID:25741868 PMID:35858628 NCBI chr 7:8,972,202...8,977,025
Ensembl chr 7:8,321,466...8,326,289 		JBrowse link
neurofibroma of spinal cord term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nf1 neurofibromin 1 ISO ClinVar Annotator: match by term: Spinal neurofibroma ClinVar NCBI chr10:64,803,986...65,037,086
Ensembl chr10:64,306,301...64,536,658 		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
neuromyelitis optica term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aqp4 aquaporin 4 disease_progression ISO CTD Direct Evidence: marker/mechanism
associated withHiccup;
DNA:polymorphism:promoter:-1003A>G(human)		 CTD
RGD		 PMID:18509235 PMID:24070676 PMID:16087714 PMID:26287559 PMID:22271321 More... RGD:5148024, RGD:597830176, RGD:8696034, RGD:8696033, RGD:8696032, RGD:8696026, RGD:8695993, RGD:5148032 NCBI chr18:6,782,389...6,799,034
Ensembl chr18:6,507,903...6,524,856 		JBrowse link
G Cd59em1Ask CD59 molecule; CRISPR/Cas9 induced mutant1, Ask severity IMP RGD PMID:28212662 RGD:13792592
G Cd59b CD59b molecule severity IMP RGD PMID:28212662 RGD:13792592 NCBI chr 3:110,914,008...110,932,489
Ensembl chr 3:90,459,162...90,478,847 		JBrowse link
G Gfap glial fibrillary acidic protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:18509235 NCBI chr10:88,352,987...88,361,661
Ensembl chr10:87,852,890...87,861,589 		JBrowse link
G Il21 interleukin 21 ISO protein:increased expression:cerebrospinal fluid (human) RGD PMID:23041403 RGD:127285589 NCBI chr 2:122,045,240...122,055,142
Ensembl chr 2:120,119,444...120,126,996 		JBrowse link
G Il6 interleukin 6 severity ISO protein:increased expression:serum, cerebral spinal fluid: RGD PMID:20128675 RGD:7829722 NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,213,394...5,219,178 		JBrowse link
G Mbp myelin basic protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:18509235 NCBI chr18:78,130,652...78,241,174
Ensembl chr18:75,855,878...75,966,404 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:serum RGD PMID:21621856 RGD:8547883 NCBI chr 3:174,103,474...174,111,434
Ensembl chr 3:153,683,858...153,692,120 		JBrowse link
G Nefh neurofilament heavy chain ISO protein:increased expression:serum: RGD PMID:23316360 RGD:27226805 NCBI chr14:84,044,428...84,054,413
Ensembl chr14:79,830,362...79,840,351 		JBrowse link
G Nefl neurofilament light chain ISO protein:increased expression:serum (human) RGD PMID:33317883 RGD:127285024 NCBI chr15:46,477,330...46,481,203
Ensembl chr15:42,301,916...42,305,793 		JBrowse link
G RT1-Bb RT1 class II, locus Bb susceptibility ISO DNA:polymorphism:cds:HLA-DQB1*0402 (human)
DNA:polymorphism:: HLA-DQB1*02:02 (human)		 RGD PMID:21908482 PMID:27049564 RGD:7421588, RGD:11530523 NCBI chr20:4,598,475...4,604,118
Ensembl chr20:4,596,559...4,607,597 		JBrowse link
G RT1-Db1 RT1 class II, locus Db1 susceptibility ISO DNA:polymorphism (human)
DNA:polymorphism:: HLA-DRB1*04:04, DRB1*07:01, DRB1*10:01(human)		 RGD PMID:21748712 PMID:27049564 RGD:5147590, RGD:11530523 NCBI chr20:4,550,594...4,560,182
Ensembl chr20:4,548,666...4,558,258 		JBrowse link
G S100b S100 calcium binding protein B ISO RGD PMID:21371524 RGD:5508767 NCBI chr20:12,372,345...12,381,159
Ensembl chr20:12,372,881...12,394,743 		JBrowse link
nonprogressive cerebellar ataxia with mental retardation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aadacl3 arylacetamide deacetylase-like 3 ISO ClinVar Annotator: match by term: Cerebellar dysfunction with variable cognitive and behavioral abnormalities ClinVar PMID:25741868 NCBI chr 5:156,242,182...156,252,215
Ensembl chr 5:156,243,415...156,252,205 		JBrowse link
G Aadacl4 arylacetamide deacetylase-like 4 ISO ClinVar Annotator: match by term: Cerebellar dysfunction with variable cognitive and behavioral abnormalities ClinVar PMID:25741868 NCBI chr 5:156,514,021...156,524,567
Ensembl chr 5:156,513,753...156,524,695 		JBrowse link
G Camta1 calmodulin binding transcription activator 1 ISO ClinVar Annotator: match by term: CAMTA1-related condition | ClinVar Annotator: match by term: Cerebellar dysfunction with variable cognitive and behavioral abnormalities OMIM
ClinVar		 PMID:22693284 PMID:24738973 PMID:25326637 PMID:25741868 PMID:28492532 More... NCBI chr 5:166,791,639...167,639,502
Ensembl chr 5:161,510,283...162,356,723 		JBrowse link
G Cfap107 cilia and flagella associated protein 107 ISO ClinVar Annotator: match by term: Cerebellar dysfunction with variable cognitive and behavioral abnormalities ClinVar PMID:25741868 NCBI chr 5:161,495,655...161,514,751
Ensembl chr 5:156,212,385...156,231,481 		JBrowse link
G Dhrs3 dehydrogenase/reductase 3 ISO ClinVar Annotator: match by term: Cerebellar dysfunction with variable cognitive and behavioral abnormalities ClinVar PMID:25741868 NCBI chr 5:162,031,853...162,065,655
Ensembl chr 5:156,747,962...156,782,417 		JBrowse link
G Mfn2 mitofusin 2 ISO ClinVar Annotator: match by term: Cerebellar dysfunction with variable cognitive and behavioral abnormalities ClinVar PMID:25741868 NCBI chr 5:163,587,463...163,617,363
Ensembl chr 5:158,304,287...158,335,342 		JBrowse link
G Miip migration and invasion inhibitory protein ISO ClinVar Annotator: match by term: Cerebellar dysfunction with variable cognitive and behavioral abnormalities ClinVar PMID:25741868 NCBI chr 5:163,575,689...163,582,739
Ensembl chr 5:158,292,511...158,299,694 		JBrowse link
G Nid1 nidogen 1 ISO ClinVar Annotator: match by term: Cerebellar dysfunction with variable cognitive and behavioral abnormalities ClinVar PMID:25741868 NCBI chr17:93,069,013...93,142,416
Ensembl chr17:86,085,077...86,158,267 		JBrowse link
G Plod1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 ISO ClinVar Annotator: match by term: Cerebellar dysfunction with variable cognitive and behavioral abnormalities ClinVar PMID:25741868 NCBI chr 5:163,623,847...163,650,737
Ensembl chr 5:158,340,490...158,367,620 		JBrowse link
G Pou4f1 POU class 4 homeobox 1 ISO ClinVar Annotator: match by term: Cerebellar dysfunction with variable cognitive and behavioral abnormalities ClinVar PMID:25741868 NCBI chr15:87,668,328...87,674,643
Ensembl chr15:81,257,781...81,259,728 		JBrowse link
G Pramef12 PRAME family member 12 ISO ClinVar Annotator: match by term: Cerebellar dysfunction with variable cognitive and behavioral abnormalities ClinVar PMID:25741868 NCBI chr 5:161,476,048...161,487,195
Ensembl chr 5:156,193,745...156,197,195 		JBrowse link
G Prdm16 PR/SET domain 16 ISO ClinVar Annotator: match by term: Cerebellar dysfunction with variable cognitive and behavioral abnormalities ClinVar PMID:25741868 NCBI chr 5:170,162,275...170,486,371
Ensembl chr 5:164,880,587...165,203,601 		JBrowse link
G Slc9a1 solute carrier family 9 member A1 ISO ClinVar Annotator: match by term: Cerebellar dysfunction with variable cognitive and behavioral abnormalities ClinVar PMID:25741868 NCBI chr 5:150,859,412...150,913,525
Ensembl chr 5:145,576,334...145,629,624 		JBrowse link
G Smyd3 SET and MYND domain containing 3 ISO ClinVar Annotator: match by term: Cerebellar dysfunction with variable cognitive and behavioral abnormalities ClinVar PMID:25741868 NCBI chr13:93,241,274...93,798,221
Ensembl chr13:90,709,270...91,266,253 		JBrowse link
G Tnfrsf1b TNF receptor superfamily member 1B ISO ClinVar Annotator: match by term: Cerebellar dysfunction with variable cognitive and behavioral abnormalities ClinVar PMID:25741868 NCBI chr 5:162,356,250...162,387,411
Ensembl chr 5:157,070,642...157,104,206 		JBrowse link
G Tnfrsf8 TNF receptor superfamily member 8 ISO ClinVar Annotator: match by term: Cerebellar dysfunction with variable cognitive and behavioral abnormalities ClinVar PMID:25741868 NCBI chr 5:162,406,387...162,451,620
Ensembl chr 5:157,123,185...157,168,421 		JBrowse link
G Vps13d vacuolar protein sorting 13 homolog D ISO ClinVar Annotator: match by term: Cerebellar dysfunction with variable cognitive and behavioral abnormalities ClinVar PMID:25741868 NCBI chr 5:162,113,732...162,339,121
Ensembl chr 5:156,830,512...157,055,891 		JBrowse link
olivopontocerebellar atrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aptx aprataxin ISO DNA:missense mutations:cds:725G>A,457A>G(human) RGD PMID:21465257 RGD:10054301 NCBI chr 5:60,593,338...60,618,946
Ensembl chr 5:55,800,248...55,822,855 		JBrowse link
G Cfap96 cilia and flagella associated protein 96 ISO ClinVar Annotator: match by term: Olivopontocerebellar hypoplasia ClinVar PMID:25741868 PMID:28492532 PMID:33473208 NCBI chr16:53,023,623...53,048,176
Ensembl chr16:46,291,311...46,315,625 		JBrowse link
G Tsen54 tRNA splicing endonuclease subunit 54 ISO ClinVar Annotator: match by term: Olivopontocerebellar hypoplasia ClinVar PMID:16470708 PMID:18414213 PMID:18711368 PMID:19459882 PMID:20301773 More... NCBI chr10:101,540,479...101,549,022
Ensembl chr10:101,042,503...101,050,087 		JBrowse link
G Ufsp2 UFM1-specific peptidase 2 ISO ClinVar Annotator: match by term: Olivopontocerebellar hypoplasia ClinVar PMID:25741868 PMID:28492532 PMID:33473208 NCBI chr16:53,004,590...53,023,640
Ensembl chr16:46,272,016...46,291,059 		JBrowse link
Olivopontocerebellar Atrophy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atxn1 ataxin 1 ISO ClinVar Annotator: match by term: Spinocerebellar atrophy 1 ClinVar PMID:25741868 PMID:37091313 NCBI chr17:18,943,397...19,354,751
Ensembl chr17:18,737,533...19,142,360 		JBrowse link
pilocytic astrocytoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Flcn folliculin ISO ClinVar Annotator: match by term: Pilocytic astrocytoma ClinVar PMID:15852235 PMID:16199547 PMID:25741868 PMID:28492532 NCBI chr10:45,088,164...45,107,581
Ensembl chr10:44,588,624...44,607,769 		JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Pilocytic astrocytoma ClinVar PMID:15696205 PMID:16247081 PMID:24033266 NCBI chr 4:179,916,255...179,949,613 JBrowse link
G Nf1 neurofibromin 1 ISO ClinVar Annotator: match by term: Pilocytic astrocytoma ClinVar PMID:10712197 PMID:23913538 PMID:25741868 PMID:28492532 NCBI chr10:64,803,986...65,037,086
Ensembl chr10:64,306,301...64,536,658 		JBrowse link
G Palb2 partner and localizer of BRCA2 ISO ClinVar Annotator: match by term: Pilocytic astrocytoma ClinVar PMID:25741868 PMID:26283626 PMID:28492532 PMID:28664506 PMID:32546565 NCBI chr 1:186,096,312...186,120,284
Ensembl chr 1:176,665,076...176,688,990 		JBrowse link
G Ret ret proto-oncogene ISO ClinVar Annotator: match by term: Pilocytic astrocytoma, somatic ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 4:152,998,344...153,040,556
Ensembl chr 4:151,326,431...151,368,176 		JBrowse link
G Sdha succinate dehydrogenase complex flavoprotein subunit A ISO ClinVar Annotator: match by term: Pilocytic astrocytoma, somatic ClinVar PMID:20484225 PMID:21505157 PMID:21752896 PMID:22955521 PMID:22974104 More... NCBI chr 1:30,764,553...30,789,523
Ensembl chr 1:28,940,164...28,961,535 		JBrowse link
pilomyxoid astrocytoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr1 Fibroblast growth factor receptor 1 ISO ClinVar Annotator: match by term: Pilomyxoid astrocytoma ClinVar PMID:25705862 PMID:25741868 PMID:26942290 PMID:28492532 PMID:33448156 NCBI chr16:73,194,631...73,249,855
Ensembl chr16:66,494,042...66,547,350 		JBrowse link
pleomorphic xanthoastrocytoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aass aminoadipate-semialdehyde synthase ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:52,572,146...52,628,811
Ensembl chr 4:51,606,462...51,663,136 		JBrowse link
G Abca13 ATP binding cassette subfamily A member 13 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr14:88,087,146...88,589,868
Ensembl chr14:83,873,940...84,375,075 		JBrowse link
G Abcb1a ATP binding cassette subfamily B member 1A ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:26,312,403...26,488,456
Ensembl chr 4:25,158,362...25,442,709 		JBrowse link
G Abcb4 ATP binding cassette subfamily B member 4 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:26,106,895...26,164,440
Ensembl chr 4:25,151,953...25,209,202 		JBrowse link
G Abcb5 ATP binding cassette subfamily B member 5 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 6:145,978,860...146,075,776
Ensembl chr 6:139,835,949...139,932,830 		JBrowse link
G Abhd11 abhydrolase domain containing 11 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr12:27,318,739...27,322,016
Ensembl chr12:21,682,202...21,685,398 		JBrowse link
G Abhd11-as1 ABHD11 antisense RNA 1 (tail to tail) ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr12:27,317,656...27,318,643 JBrowse link
G Ache acetylcholinesterase ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr12:25,042,882...25,050,608
Ensembl chr12:19,407,360...19,413,651 		JBrowse link
G Actl6b actin-like 6B ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr12:24,761,660...24,778,193
Ensembl chr12:19,124,916...19,141,376 		JBrowse link
G Adam22 ADAM metallopeptidase domain 22 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:26,670,984...26,925,843
Ensembl chr 4:25,715,990...25,964,962 		JBrowse link
G Adck2 aarF domain containing kinase 2 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:69,315,633...69,328,535
Ensembl chr 4:68,348,864...68,374,608 		JBrowse link
G Adcy1 adenylate cyclase 1 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr14:86,125,119...86,234,459
Ensembl chr14:81,911,099...82,028,969 		JBrowse link
G Adcyap1r1 ADCYAP receptor type I ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:85,924,171...85,972,973
Ensembl chr 4:84,593,892...84,642,700 		JBrowse link
G Aebp1 AE binding protein 1 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr14:84,951,577...84,962,840
Ensembl chr14:80,738,892...80,748,877 		JBrowse link
G Agbl3 AGBL carboxypeptidase 3 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:64,416,139...64,498,987
Ensembl chr 4:63,453,940...63,531,188 		JBrowse link
G Agfg2 ArfGAP with FG repeats 2 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr12:24,649,008...24,692,069
Ensembl chr12:19,012,258...19,048,421 		JBrowse link
G Agmo alkylglycerol monooxygenase ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 6:59,713,495...60,044,851
Ensembl chr 6:53,986,292...54,317,623 		JBrowse link
G Agr2 anterior gradient 2, protein disulphide isomerase family member ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 6:58,435,908...58,456,678
Ensembl chr 6:52,708,602...52,729,371 		JBrowse link
G Agr3 anterior gradient 3, protein disulphide isomerase family member ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 6:58,370,701...58,393,944
Ensembl chr 6:52,643,391...52,666,638 		JBrowse link
G Ahcyl2 adenosylhomocysteinase-like 2 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:59,348,747...59,498,503
Ensembl chr 4:58,381,218...58,531,060 		JBrowse link
G Ahr aryl hydrocarbon receptor ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 6:57,961,423...57,998,901
Ensembl chr 6:52,234,089...52,271,568 		JBrowse link
G Akap9 A-kinase anchoring protein 9 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:31,011,475...31,147,338
Ensembl chr 4:30,056,738...30,192,606 		JBrowse link
G Akr1b1 aldo-keto reductase family 1 member B1 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:63,899,222...63,913,315
Ensembl chr 4:62,932,031...62,946,157 		JBrowse link
G Akr1b10 aldo-keto reductase family 1 member B10 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:64,005,632...64,027,860
Ensembl chr 4:63,040,169...63,053,852 		JBrowse link
G Akr1b8 aldo-keto reductase family 1, member B8 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:62,997,241...63,009,815
Ensembl chr 4:62,997,161...63,010,097 		JBrowse link
G Akr1d1 aldo-keto reductase family 1, member D1 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:67,121,288...67,154,543
Ensembl chr 4:66,154,248...66,186,372 		JBrowse link
G Alkbh4 alkB homolog 4, lysine demethylase ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr12:26,160,643...26,166,560
Ensembl chr12:20,524,030...20,529,947 		JBrowse link
G Amph amphiphysin ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr17:50,435,018...50,678,583
Ensembl chr17:45,739,395...45,983,315 		JBrowse link
G Ankib1 ankyrin repeat and IBR domain containing 1 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:31,288,393...31,412,500
Ensembl chr 4:30,333,677...30,457,781 		JBrowse link
G Ankmy2 ankyrin repeat and MYND domain containing 2 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 6:58,616,251...58,657,634
Ensembl chr 6:52,888,963...52,930,394 		JBrowse link
G Ankrd7 ankyrin repeat domain 7 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:47,312,270...47,336,754
Ensembl chr 4:47,318,420...47,336,753 		JBrowse link
G Anln anillin, actin binding protein ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 8:29,134,222...29,197,513
Ensembl chr 8:20,858,228...20,921,538 		JBrowse link
G Aoah acyloxyacyl hydrolase ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr17:48,503,812...48,745,161
Ensembl chr17:43,809,638...44,049,148 		JBrowse link
G Ap1s1 adaptor related protein complex 1 subunit sigma 1 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr12:25,261,958...25,272,483
Ensembl chr12:19,625,332...19,756,713 		JBrowse link
G Ap4m1 adaptor related protein complex 4 subunit mu 1 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr12:22,163,474...22,171,734
Ensembl chr12:17,049,777...17,058,026 		JBrowse link
G Aqp1 aquaporin 1 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:85,812,784...85,824,964
Ensembl chr 4:84,482,512...84,494,690 		JBrowse link
G Arf5 ARF GTPase 5 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:58,003,919...58,006,898
Ensembl chr 4:57,038,521...57,041,441 		JBrowse link
G Arl4a ARF like GTPase 4A ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 6:62,809,287...62,811,297
Ensembl chr 6:57,078,812...57,085,066 		JBrowse link
G Armc10 armadillo repeat containing 10 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:14,291,211...14,306,799
Ensembl chr 4:13,395,207...13,414,548 		JBrowse link
G Arpc1a actin related protein 2/3 complex, subunit 1A ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr12:14,616,245...14,639,052
Ensembl chr12:9,502,501...9,525,330 		JBrowse link
G Arpc1b actin related protein 2/3 complex, subunit 1B ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr12:14,595,939...14,609,501
Ensembl chr12:9,480,831...9,495,747 		JBrowse link
G Asb15 ankyrin repeat and SOCS box containing 15 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:53,987,217...54,014,128
Ensembl chr 4:53,031,692...53,049,928 		JBrowse link
G Asb4 ankyrin repeat and SOCS box-containing 4 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:34,473,527...34,511,163
Ensembl chr 4:33,506,992...33,544,630 		JBrowse link
G Asl argininosuccinate lyase ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr12:32,295,779...32,313,257
Ensembl chr12:26,659,565...26,679,662 		JBrowse link
G Asns asparagine synthetase (glutamine-hydrolyzing) ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:36,752,061...36,769,970
Ensembl chr 4:35,785,237...35,803,423 		JBrowse link
G Asz1 ankyrin repeat, SAM and basic leucine zipper domain containing 1 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:47,366,373...47,421,976
Ensembl chr 4:46,400,485...46,456,085 		JBrowse link
G Atp5mf ATP synthase membrane subunit f ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr12:14,535,435...14,542,007
Ensembl chr12:9,421,579...9,428,236 		JBrowse link
G Atp6v0a4 ATPase H+ transporting V0 subunit a4 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:67,727,145...67,809,092
Ensembl chr 4:66,760,159...66,842,110 		JBrowse link
G Atp6v1f ATPase H+ transporting V1 subunit F ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:59,033,020...59,035,980 JBrowse link
G Atxn7l1 ataxin 7-like 1 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 6:55,487,309...55,709,751
Ensembl chr 6:49,759,883...49,982,320 		JBrowse link
G Auts2 activator of transcription and developmental regulator AUTS2 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr12:29,739,138...30,830,386
Ensembl chr12:24,104,192...25,194,416 		JBrowse link
G Avl9 AVL9 cell migration associated ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:87,291,062...87,338,537
Ensembl chr 4:85,961,635...86,008,791 		JBrowse link
G Azgp1 alpha-2-glycoprotein 1, zinc-binding ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr12:22,044,685...22,051,248
Ensembl chr12:16,931,024...16,939,091 		JBrowse link
G Baiap2l1 BAR/IMD domain containing adaptor protein 2 like 1 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr12:15,364,090...15,453,602
Ensembl chr12:10,250,473...10,339,928 		JBrowse link
G Baz1b bromodomain adjacent to zinc finger domain, 1B ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr12:27,068,541...27,126,511
Ensembl chr12:21,431,985...21,490,426 		JBrowse link
G Bbs9 Bardet-Biedl syndrome 9 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 8:29,288,846...29,713,889
Ensembl chr 8:21,013,944...21,437,930 		JBrowse link
G Bcap29 B-cell receptor-associated protein 29 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 6:53,910,209...53,950,206
Ensembl chr 6:48,182,706...48,222,720 		JBrowse link
G Bcl7b BAF chromatin remodeling complex subunit BCL7B ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr12:27,133,412...27,146,631
Ensembl chr12:21,496,856...21,510,202 		JBrowse link
G Bet1 Bet1 golgi vesicular membrane trafficking protein ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:33,070,892...33,081,162
Ensembl chr 4:32,116,235...32,126,617 		JBrowse link
G Bhlha15 basic helix-loop-helix family, member a15 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr12:15,534,123...15,538,299
Ensembl chr12:10,420,467...10,424,713 		JBrowse link
G Blvra biliverdin reductase A ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 3:134,793,397...134,819,367
Ensembl chr 3:114,340,838...114,366,033 		JBrowse link
G Bmper BMP-binding endothelial regulator ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 8:30,008,049...30,253,201
Ensembl chr 8:21,732,225...21,977,256 		JBrowse link
G Bpgm bisphosphoglycerate mutase ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:64,106,809...64,135,749
Ensembl chr 4:63,140,018...63,168,581 		JBrowse link
G Braf B-Raf proto-oncogene, serine/threonine kinase onset ISO DNA:mutation:cds:p.V600E(human)
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma		 ClinVar
RGD		 PMID:28299358 PMID:25346165 RGD:11567238 NCBI chr 4:69,329,772...69,476,931
Ensembl chr 4:68,384,649...68,510,463 		JBrowse link
G Bri3 brain protein I3 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr12:15,454,673...15,478,319
Ensembl chr12:10,341,011...10,364,735 		JBrowse link
G Bud23 BUD23, rRNA methyltransferase and ribosome maturation factor ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr12:27,266,093...27,277,300
Ensembl chr12:21,629,536...21,640,751 		JBrowse link
G Bud31 BUD31 homolog ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr12:14,576,602...14,584,132
Ensembl chr12:9,462,441...9,470,509 		JBrowse link
G Bzw2 basic leucine zipper and W2 domains 2 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 6:58,555,362...58,615,921
Ensembl chr 6:52,827,661...52,888,628 		JBrowse link
G C14h7orf57 similar to human chromosome 7 open reading frame 57 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr14:83,748,478...83,768,293
Ensembl chr14:83,748,478...83,767,435 		JBrowse link
G C17h7orf25 similar to human chromosome 7 open reading frame 25 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr17:50,543,231...50,549,880
Ensembl chr17:50,542,858...50,549,976 		JBrowse link
G Cacna2d1 calcium voltage-gated channel auxiliary subunit alpha2delta 1 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:19,902,324...20,330,287
Ensembl chr 4:18,951,002...19,374,969 		JBrowse link
G Cadps2 calcium dependent secretion activator 2 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:52,746,054...53,275,252
Ensembl chr 4:51,781,053...52,309,829 		JBrowse link
G Calcr calcitonin receptor ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:32,615,955...32,691,075
Ensembl chr 4:31,661,273...31,736,392 		JBrowse link
G Cald1 caldesmon 1 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:64,232,906...64,414,085
Ensembl chr 4:63,265,942...63,446,932 		JBrowse link
G Caln1 calneuron 1 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr12:31,447,964...31,939,847
Ensembl chr12:25,819,628...26,303,344 		JBrowse link
G Calu calumenin ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:58,914,456...58,941,957
Ensembl chr 4:57,948,997...57,976,593 		JBrowse link
G Camk2b calcium/calmodulin-dependent protein kinase II beta ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr14:85,059,166...85,148,121
Ensembl chr14:80,845,238...80,933,994 		JBrowse link
G Capza2 capping actin protein of muscle Z-line subunit alpha 2 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:46,944,040...46,979,930
Ensembl chr 4:45,977,807...46,013,864 		JBrowse link
G Casd1 CAS1 domain containing 1 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:33,613,805...33,705,821
Ensembl chr 4:32,658,748...32,739,202 		JBrowse link
G Castor2 cytosolic arginine sensor for mTORC1 subunit 2 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr12:28,213,927...28,256,593
Ensembl chr12:22,577,512...22,620,182 		JBrowse link
G Cav1 caveolin 1 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:46,606,538...46,639,616
Ensembl chr 4:45,634,918...45,673,705 		JBrowse link
G Cav2 caveolin 2 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:46,582,681...46,590,058
Ensembl chr 4:45,616,712...45,624,244 		JBrowse link
G Cbll1 Cbl proto-oncogene like 1 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 6:53,798,712...53,812,890
Ensembl chr 6:48,071,190...48,086,444 		JBrowse link
G Cbx3 chromobox 3 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:81,876,155...81,889,912
Ensembl chr 4:80,546,010...80,559,283
Ensembl chr 4:80,546,010...80,559,283 		JBrowse link
G Ccdc126 coiled-coil domain containing 126 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:79,628,483...79,649,513
Ensembl chr 4:78,297,551...78,318,655 		JBrowse link
G Ccdc136 coiled-coil domain containing 136 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:58,963,196...58,992,962
Ensembl chr 4:57,997,853...58,027,646 		JBrowse link
G Ccdc146 coiled-coil domain containing 146 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:14,554,966...14,703,801
Ensembl chr 4:13,662,766...13,811,608 		JBrowse link
G Ccdc71l coiled-coil domain containing 71-like ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 6:54,687,474...54,691,566
Ensembl chr 6:48,960,191...48,960,841
Ensembl chr 6:48,960,191...48,960,841 		JBrowse link
G Ccl24 C-C motif chemokine ligand 24 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr12:26,737,423...26,741,420
Ensembl chr12:21,100,835...21,104,893 		JBrowse link
G Ccl26 C-C motif chemokine ligand 26 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr12:26,745,972...26,750,924
Ensembl chr12:21,109,421...21,114,335 		JBrowse link
G Ccm2 CCM2 scaffold protein ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr14:85,632,338...85,678,016
Ensembl chr14:81,418,236...81,464,116 		JBrowse link
G Cct6a chaperonin containing TCP1 subunit 6A ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr12:32,508,842...32,519,072
Ensembl chr12:26,872,574...26,883,337 		JBrowse link
G Cd36 CD36 molecule ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:18,209,088...18,302,142
Ensembl chr 4:17,354,466...17,513,903 		JBrowse link
G Cdca7l cell division cycle associated 7 like ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 6:144,936,885...144,982,844
Ensembl chr 6:138,794,228...138,839,888 		JBrowse link
G Cdhr3 cadherin-related family member 3 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 6:55,369,215...55,429,454
Ensembl chr 6:49,641,813...49,702,017 		JBrowse link
G Cdk13 cyclin-dependent kinase 13 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr17:51,945,975...52,040,218
Ensembl chr17:47,251,163...47,341,721 		JBrowse link
G Cdk14 cyclin-dependent kinase 14 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:29,619,237...30,213,651
Ensembl chr 4:28,666,843...29,258,861 		JBrowse link
G Cdk6 cyclin-dependent kinase 6 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:31,592,384...31,784,732
Ensembl chr 4:30,646,460...30,829,634 		JBrowse link
G Cep41 centrosomal protein 41 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:59,271,218...59,312,343
Ensembl chr 4:59,271,218...59,310,668 		JBrowse link
G Cfap69 cilia and flagella associated protein 69 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:29,334,624...29,405,513
Ensembl chr 4:28,375,996...28,450,698 		JBrowse link
G Cftr CF transmembrane conductance regulator ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:47,422,084...47,694,646
Ensembl chr 4:46,560,885...46,728,756 		JBrowse link
G Chchd2 coiled-coil-helix-coiled-coil-helix domain containing 2 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr12:32,464,847...32,470,871
Ensembl chr12:26,828,736...26,834,755 		JBrowse link
G Chchd3 coiled-coil-helix-coiled-coil-helix domain containing 3 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:62,327,574...62,584,085
Ensembl chr 4:61,360,353...61,616,847 		JBrowse link
G Chn2 chimerin 2 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:84,478,989...84,738,068
Ensembl chr 4:83,147,983...83,407,709 		JBrowse link
G Chrm2 cholinergic receptor, muscarinic 2 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:65,981,136...66,116,128
Ensembl chr 4:65,014,144...65,149,103 		JBrowse link
G Cldn12 claudin 12 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:29,477,468...29,488,465
Ensembl chr 4:28,522,678...28,533,801 		JBrowse link
G Cldn15 claudin 15 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr12:25,334,849...25,345,104
Ensembl chr12:19,698,337...19,706,819 		JBrowse link
G Cldn3 claudin 3 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr12:27,345,075...27,346,547
Ensembl chr12:21,708,398...21,711,001 		JBrowse link
G Cldn4 claudin 4 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr12:27,388,160...27,389,958
Ensembl chr12:21,751,331...21,753,436 		JBrowse link
G Clec2l C-type lectin domain family 2, member L ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:68,359,021...68,381,431
Ensembl chr 4:67,397,873...67,414,537 		JBrowse link
G Clip2 CAP-GLY domain containing linker protein 2 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr12:27,798,289...27,863,486
Ensembl chr12:22,163,218...22,227,023 		JBrowse link
G Cnot4 CCR4-NOT transcription complex, subunit 4 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:64,679,903...64,781,432
Ensembl chr 4:63,712,770...63,814,360 		JBrowse link
G Cnpy4 canopy FGF signaling regulator 4 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr12:22,178,254...22,184,432
Ensembl chr12:17,064,642...17,070,043 		JBrowse link
G Cobl cordon-bleu WH2 repeat protein ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr14:91,041,721...91,274,272
Ensembl chr14:86,828,139...87,060,800 		JBrowse link
G Cog5 component of oligomeric golgi complex 5 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 6:53,969,967...54,267,869
Ensembl chr 6:48,242,482...48,529,009 		JBrowse link
G Col1a2 collagen type I alpha 2 chain ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:33,518,557...33,553,484
Ensembl chr 4:32,563,381...32,598,867 		JBrowse link
G Col26a1 collagen type XXVI alpha 1 chain ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr12:25,429,362...25,575,205
Ensembl chr12:19,792,728...19,938,556 		JBrowse link
G Copg2 COPI coat complex subunit gamma 2 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:60,333,455...60,468,953
Ensembl chr 4:59,366,086...59,501,618 		JBrowse link
G Cops6 COP9 signalosome subunit 6 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr12:17,038,979...17,041,818
Ensembl chr12:17,038,979...17,046,371 		JBrowse link
G Cpa1 carboxypeptidase A1 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:60,224,801...60,230,928
Ensembl chr 4:59,257,417...59,263,544 		JBrowse link
G Cpa2 carboxypeptidase A2 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:60,125,297...60,151,066
Ensembl chr 4:59,160,357...59,183,674 		JBrowse link
G Cpa4 carboxypeptidase A4 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:60,155,675...60,179,644
Ensembl chr 4:59,188,284...59,212,255 		JBrowse link
G Cpa5 carboxypeptidase A5 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:59,229,754...59,249,503
Ensembl chr 4:59,230,964...59,249,490 		JBrowse link
G Cped1 cadherin-like and PC-esterase domain containing 1 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:51,482,497...51,755,440
Ensembl chr 4:50,516,819...50,788,674 		JBrowse link
G Cpsf4 cleavage and polyadenylation specific factor 4 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr12:14,543,536...14,559,350
Ensembl chr12:9,429,523...9,445,586 		JBrowse link
G Cpvl carboxypeptidase, vitellogenic-like ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:84,311,853...84,422,098
Ensembl chr 4:82,981,422...83,085,655 		JBrowse link
G Crcp CGRP receptor component ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr12:32,260,108...32,315,116
Ensembl chr12:26,623,976...26,768,225 		JBrowse link
G Creb3l2 cAMP responsive element binding protein 3-like 2 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:66,874,623...66,990,962
Ensembl chr 4:65,907,655...66,023,763 		JBrowse link
G Creb5 cAMP responsive element binding protein 5 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:83,723,587...84,124,786
Ensembl chr 4:82,393,730...82,790,325 		JBrowse link
G Crhr2 corticotropin releasing hormone receptor 2 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:85,553,163...85,596,203
Ensembl chr 4:84,224,002...84,265,904 		JBrowse link
G Crot carnitine O-octanoyltransferase ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:26,031,729...26,088,057
Ensembl chr 4:25,080,587...25,133,109 		JBrowse link
G Crppa CDP-L-ribitol pyrophosphorylase A ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 6:58,847,550...59,124,309
Ensembl chr 6:53,121,438...53,397,028 		JBrowse link
G Cttnbp2 cortactin binding protein 2 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:47,766,867...47,930,598
Ensembl chr 4:46,800,981...46,964,631 		JBrowse link
G Cux1 cut-like homeobox 1 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr12:25,728,393...26,062,497
Ensembl chr12:20,107,311...20,425,866
Ensembl chr 4:20,107,311...20,425,866 		JBrowse link
G Cycs cytochrome c, somatic ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:80,982,667...80,984,767
Ensembl chr 4:79,651,378...79,654,054
Ensembl chr18:79,651,378...79,654,054 		JBrowse link
G Cyp3a18 cytochrome P450, family 3, subfamily a, polypeptide 18 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr12:13,994,312...14,044,185
Ensembl chr12:8,880,528...8,930,381 		JBrowse link
G Cyp3a2 cytochrome P450, family 3, subfamily a, polypeptide 2 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr12:14,321,771...14,343,886
Ensembl chr12:9,015,383...9,285,008 		JBrowse link
G Cyp3a9 cytochrome P450, family 3, subfamily a, polypeptide 9 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr12:21,919,955...21,960,160
Ensembl chr12:16,806,207...16,846,422 		JBrowse link
G Cyp51 cytochrome P450, family 51 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:30,991,693...31,010,147
Ensembl chr 4:30,036,865...30,055,410
Ensembl chr 6:30,036,865...30,055,410 		JBrowse link
G Cyren cell cycle regulator of NHEJ ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:64,514,477...64,519,896
Ensembl chr 4:63,547,335...63,551,602 		JBrowse link
G Dbf4 DBF4-CDC7 kinase regulatory subunit ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:26,631,491...26,656,080
Ensembl chr 4:25,676,634...25,701,066 		JBrowse link
G Dbnl drebrin-like ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr14:84,880,085...84,895,122
Ensembl chr14:80,666,124...80,681,155 		JBrowse link
G Ddc dopa decarboxylase ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr14:90,592,304...90,682,830
Ensembl chr14:86,378,685...86,469,208 		JBrowse link
G Ddx56 DEAD-box helicase 56 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr14:85,325,942...85,336,262
Ensembl chr14:81,112,012...81,122,333 		JBrowse link
G Dennd2a DENN domain containing 2A ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:68,233,016...68,332,235
Ensembl chr 4:68,233,958...68,332,105 		JBrowse link
G Dgkb diacylglycerol kinase, beta ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 6:60,368,101...61,124,420
Ensembl chr 6:54,641,614...55,397,043 		JBrowse link
G Dgki diacylglycerol kinase, iota ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:66,377,897...66,839,790
Ensembl chr 4:65,420,108...65,872,733 		JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 6:53,631,686...53,655,059
Ensembl chr 6:47,903,914...47,924,795 		JBrowse link
G Dlx5 distal-less homeobox 5 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:35,965,579...35,969,973
Ensembl chr 4:34,999,139...35,003,407 		JBrowse link
G Dlx6 distal-less homeobox 6 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:35,951,005...35,956,354
Ensembl chr 4:34,984,232...34,991,343 		JBrowse link
G Dmtf1 cyclin D binding myb-like transcription factor 1 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:25,864,891...25,905,916
Ensembl chr 4:24,910,534...24,950,967 		JBrowse link
G Dnah11 dynein, axonemal, heavy chain 11 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 6:144,982,130...145,298,523
Ensembl chr 6:138,839,177...139,155,536 		JBrowse link
G Dnajb9 DnaJ heat shock protein family (Hsp40) member B9 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 6:66,997,842...67,007,371
Ensembl chr 6:61,269,913...61,275,063 		JBrowse link
G Dnajc2 DnaJ heat shock protein family (Hsp40) member C2 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:14,162,490...14,189,662
Ensembl chr 4:13,270,191...13,297,431 		JBrowse link
G Dnajc30 DnaJ heat shock protein family (Hsp40) member C30 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr12:27,264,861...27,265,940
Ensembl chr12:21,626,450...21,629,408 		JBrowse link
G Dock4 dedicator of cytokinesis 4 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 6:63,240,050...63,629,772
Ensembl chr 6:57,512,908...57,901,855 		JBrowse link
G Dpy19l1 dpy-19 like C-mannosyltransferase 1 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 8:31,209,025...31,297,485
Ensembl chr 8:22,933,163...23,021,751 		JBrowse link
G Dtx2 deltex E3 ubiquitin ligase 2 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr12:26,279,899...26,319,541
Ensembl chr12:20,643,297...20,682,885 		JBrowse link
G Dus4l dihydrouridine synthase 4-like ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 6:53,955,609...53,970,050
Ensembl chr 6:48,228,111...48,242,449 		JBrowse link
G Dync1i1 dynein cytoplasmic 1 intermediate chain 1 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:34,819,313...35,132,647
Ensembl chr 4:33,852,927...34,166,149 		JBrowse link
G Eepd1 endonuclease/exonuclease/phosphatase family domain containing 1 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 8:32,233,834...32,340,148
Ensembl chr 8:23,957,255...24,064,340 		JBrowse link
G Egfr epidermal growth factor receptor ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr14:95,378,626...95,551,358
Ensembl chr14:91,177,067...91,344,382 		JBrowse link
G Eif4h eukaryotic translation initiation factor 4H ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr12:27,719,527...27,736,350
Ensembl chr12:22,082,835...22,099,876 		JBrowse link
G Elapor2 endosome-lysosome associated apoptosis and autophagy regulator family member 2 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:25,565,298...25,760,684
Ensembl chr 4:24,613,163...24,805,729 		JBrowse link
G Elmo1 engulfment and cell motility 1 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr17:48,982,188...49,518,525
Ensembl chr17:44,286,485...44,822,788 		JBrowse link
G Eln elastin ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr12:27,604,983...27,648,413
Ensembl chr12:21,968,544...22,011,928 		JBrowse link
G Epdr1 ependymin related 1 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr17:50,029,591...50,054,254
Ensembl chr17:45,333,956...45,358,594 		JBrowse link
G Epo erythropoietin ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr12:24,841,285...24,844,725
Ensembl chr12:19,204,508...19,207,946 		JBrowse link
G Etv1 ETS variant transcription factor 1 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 6:61,316,836...61,408,985
Ensembl chr 6:55,590,234...55,681,775 		JBrowse link
G Evx1 even-skipped homeobox 1 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:82,747,192...82,751,569
Ensembl chr 4:81,416,590...81,420,967 		JBrowse link
G Exoc4 exocyst complex component 4 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:62,774,896...63,551,541
Ensembl chr 4:61,807,761...62,585,723 		JBrowse link
G Fam133b family with sequence similarity 133, member B ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:30,589,646...30,616,291
Ensembl chr 4:30,589,635...30,616,040 		JBrowse link
G Fam180a family with sequence similarity 180, member A ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:64,959,999...64,975,176
Ensembl chr 4:63,992,867...64,008,047 		JBrowse link
G Fam185a family with sequence similarity 185, member A ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:14,469,165...14,555,167
Ensembl chr 4:13,608,464...13,662,967 		JBrowse link
G Fam221a family with sequence similarity 221, member A ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:78,337,296...78,358,918
Ensembl chr 4:78,337,296...78,358,909 		JBrowse link
G Fam3c FAM3 metabolism regulating signaling molecule C ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:51,805,686...51,853,030
Ensembl chr 4:50,838,818...50,888,078 		JBrowse link
G Fbxl13 F-box and leucine-rich repeat protein 13 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:13,414,880...13,607,079
Ensembl chr 4:13,414,926...13,641,494 		JBrowse link
G Fbxo24 F-box protein 24 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr12:24,709,449...24,719,851
Ensembl chr12:19,072,716...19,083,067 		JBrowse link
G Ferd3l Fer3-like bHLH transcription factor ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 6:56,372,778...56,373,667
Ensembl chr 6:50,645,379...50,646,268 		JBrowse link
G Fezf1 Fez family zinc finger 1 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:52,728,385...52,733,315
Ensembl chr 4:51,762,751...51,766,078 		JBrowse link
G Fgl2 fibrinogen-like 2 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:14,602,762...14,608,405
Ensembl chr 4:13,710,575...13,716,207 		JBrowse link
G Fignl1 fidgetin-like 1 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr14:90,573,090...90,595,342
Ensembl chr14:86,368,675...86,377,455 		JBrowse link
G Fis1 fission, mitochondrial 1 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr12:25,345,239...25,360,135
Ensembl chr12:19,708,558...19,723,377 		JBrowse link
G Fkbp14 FKBP prolyl isomerase 14 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:85,035,840...85,051,917
Ensembl chr 4:83,705,652...83,721,528 		JBrowse link
G Fkbp6 FKBP prolyl isomerase family member 6 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr12:26,947,443...27,026,913
Ensembl chr12:21,319,568...21,390,350 		JBrowse link
G Fkbp9 FKBP prolyl isomerase 9 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:87,436,439...87,486,909
Ensembl chr 4:86,106,282...86,156,721 		JBrowse link
G Flnc filamin C ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:58,999,445...59,027,240
Ensembl chr 4:58,034,189...58,061,844 		JBrowse link
G Fmc1 formation of mitochondrial complex V assembly factor 1 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:68,241,009...68,249,045
Ensembl chr 4:67,274,104...67,282,140 		JBrowse link
G Foxp2 forkhead box P2 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:44,099,848...44,677,700
Ensembl chr 4:43,133,912...43,711,683 		JBrowse link
G Fscn3 fascin actin-bundling protein 3 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:58,008,124...58,017,674
Ensembl chr 4:57,042,797...57,052,404 		JBrowse link
G Fzd1 frizzled class receptor 1 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:30,265,074...30,269,472
Ensembl chr 4:29,310,091...29,312,643
Ensembl chr 4:29,310,091...29,312,643 		JBrowse link
G Fzd9 frizzled class receptor 9 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr12:27,063,640...27,065,954
Ensembl chr12:21,427,084...21,429,398 		JBrowse link
G Gal3st4 galactose-3-O-sulfotransferase 4 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr12:22,381,576...22,390,566
Ensembl chr12:17,267,963...17,276,833 		JBrowse link
G Galnt17 polypeptide N-acetylgalactosaminyltransferase 17 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr12:30,959,460...31,418,150
Ensembl chr12:25,322,701...25,781,290 		JBrowse link
G Garin1a golgi associated RAB2 interactor 1A ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:57,880,019...57,890,824
Ensembl chr 4:57,880,019...57,890,820 		JBrowse link
G Garin1b golgi associated RAB2 interactor 1B ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:57,915,184...57,938,593
Ensembl chr 4:57,920,790...57,938,591 		JBrowse link
G Gars1 glycyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:85,484,939...85,542,876
Ensembl chr 4:84,171,596...84,212,609 		JBrowse link
G Gatad1 GATA zinc finger domain containing 1 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:31,462,251...31,473,827
Ensembl chr 4:30,507,538...30,519,107 		JBrowse link
G Gcc1 GRIP and coiled-coil domain containing 1 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:57,996,261...58,008,126
Ensembl chr 4:57,032,314...57,042,663 		JBrowse link
G Gck glucokinase ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr14:84,999,019...85,041,098
Ensembl chr14:80,785,060...80,826,995 		JBrowse link
G Ggct gamma-glutamyl cyclotransferase ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:85,453,387...85,459,597
Ensembl chr 4:84,123,118...84,129,277 		JBrowse link
G Ghrhr growth hormone releasing hormone receptor ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:85,830,345...85,863,127
Ensembl chr 4:84,500,212...84,532,776 		JBrowse link
G Gigyf1 GRB10 interacting GYF protein 1 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr12:24,800,996...24,819,719
Ensembl chr12:19,166,088...19,175,023 		JBrowse link
G Gjc3 gap junction protein, gamma 3 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr12:22,009,560...22,024,567
Ensembl chr12:16,896,813...16,964,246 		JBrowse link
G Gli3 GLI family zinc finger 3 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr17:54,134,064...54,405,198
Ensembl chr17:49,438,567...49,709,712 		JBrowse link
G Gnai1 G protein subunit alpha i1 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:17,706,061...17,790,176
Ensembl chr 4:16,814,001...16,896,417 		JBrowse link
G Gnat3 G protein subunit alpha transducin 3 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:18,054,551...18,104,332
Ensembl chr 4:17,162,490...17,212,283 		JBrowse link
G Gnb2 G protein subunit beta 2 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr12:24,795,505...24,800,796
Ensembl chr12:19,158,973...19,164,019 		JBrowse link
G Gng11 G protein subunit gamma 11 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:32,977,681...32,983,121
Ensembl chr 4:32,023,003...32,028,442 		JBrowse link
G Gngt1 G protein subunit gamma transducin 1 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:32,960,945...32,963,930
Ensembl chr 4:32,006,267...32,009,252 		JBrowse link
G Gpc2 glypican 2 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr12:22,391,489...22,397,822
Ensembl chr12:17,277,875...17,284,208 		JBrowse link
G Gpnmb glycoprotein nmb ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:79,341,128...79,362,366
Ensembl chr 4:78,010,197...78,049,367 		JBrowse link
G Gpr141 G protein-coupled receptor 141 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr17:45,117,818...45,180,053
Ensembl chr17:45,117,812...45,180,027 		JBrowse link
G Gpr22 G protein-coupled receptor 22 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 6:54,037,998...54,044,994
Ensembl chr 6:48,310,505...48,317,486 		JBrowse link
G Gpr37 G protein-coupled receptor 37 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:55,104,355...55,126,420
Ensembl chr 4:54,138,870...54,161,001 		JBrowse link
G Gpr85 G protein-coupled receptor 85 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:43,070,194...43,075,662
Ensembl chr 4:42,102,941...42,109,566 		JBrowse link
G Grb10 growth factor receptor bound protein 10 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr14:90,708,653...90,816,399
Ensembl chr14:86,495,054...86,602,806 		JBrowse link
G Grm3 glutamate metabotropic receptor 3 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:25,319,218...25,600,721
Ensembl chr 4:24,365,115...24,609,804 		JBrowse link
G Grm8 glutamate metabotropic receptor 8 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:56,771,247...57,696,951
Ensembl chr 4:55,805,955...56,730,831 		JBrowse link
G Gsap gamma-secretase activating protein ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:14,705,237...14,800,057
Ensembl chr 4:13,813,046...13,907,814 		JBrowse link
G Gsdme gasdermin E ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:80,590,344...80,651,943
Ensembl chr 4:79,257,804...79,320,806 		JBrowse link
G Gtf2i general transcription factor II I ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr12:28,037,344...28,112,677
Ensembl chr12:22,401,431...22,476,243 		JBrowse link
G Gtf2ird1 GTF2I repeat domain containing 1 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr12:27,890,594...27,997,506
Ensembl chr12:22,254,221...22,361,040 		JBrowse link
G Gtf2ird2 GTF2I repeat domain containing 2 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr12:28,134,199...28,179,089
Ensembl chr12:22,498,091...22,536,263 		JBrowse link
G Gtpbp10 GTP binding protein 10 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:29,431,683...29,449,201
Ensembl chr 4:28,476,857...28,494,375 		JBrowse link
G Gusb glucuronidase, beta ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr12:32,337,281...32,350,838
Ensembl chr12:26,697,951...26,726,905 		JBrowse link
G H2az2 H2A.Z variant histone 2 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr14:85,507,228...85,526,166
Ensembl chr14:81,293,299...81,312,144
Ensembl chr 4:81,293,299...81,312,144
Ensembl chr16:81,293,299...81,312,144 		JBrowse link
G Hbp1 HMG-box transcription factor 1 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 6:54,257,118...54,283,373
Ensembl chr 6:48,529,372...48,555,787 		JBrowse link
G Hdac9 histone deacetylase 9 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 6:56,489,472...57,351,654
Ensembl chr 6:50,763,590...51,625,333 		JBrowse link
G Hecw1 HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr17:55,366,904...55,780,028
Ensembl chr17:50,670,954...51,080,720 		JBrowse link
G Hepacam2 HEPACAM family member 2 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:31,446,195...31,480,859
Ensembl chr 4:31,446,169...31,480,953 		JBrowse link
G Herpud2 HERPUD family member 2 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 8:31,849,216...31,894,219
Ensembl chr 8:23,573,379...23,617,874 		JBrowse link
G Hgf hepatocyte growth factor ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:19,628,902...19,700,467
Ensembl chr 4:18,677,101...18,745,409 		JBrowse link
G Hibadh 3-hydroxyisobutyrate dehydrogenase ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:82,979,759...83,077,819
Ensembl chr 4:81,649,175...81,780,617 		JBrowse link
G Hilpda hypoxia inducible lipid droplet-associated ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:58,836,463...58,839,423
Ensembl chr 4:57,871,110...57,874,557 		JBrowse link
G Hip1 huntingtin interacting protein 1 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr12:26,769,868...26,904,367
Ensembl chr12:21,133,406...21,267,725 		JBrowse link
G Hnrnpa2b1 heterogeneous nuclear ribonucleoprotein A2/B1 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:81,867,354...81,875,886
Ensembl chr 4:80,534,651...80,545,249 		JBrowse link
G Hotairm1 Hoxa transcript antisense RNA, myeloid-specific 1 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:81,258,793...81,262,291 JBrowse link
G Hoxa1 homeobox A1 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:82,586,505...82,589,209
Ensembl chr 4:81,255,883...81,258,504 		JBrowse link
G Hoxa10 homeobox A10 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:82,662,204...82,671,490
Ensembl chr 4:81,331,591...81,340,919 		JBrowse link
G Hoxa11 homeobox A11 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:82,673,139...82,676,801
Ensembl chr 4:81,342,528...81,346,232 		JBrowse link
G Hoxa11-as HOXA11 antisense RNA ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:82,677,028...82,680,802
Ensembl chr 4:81,346,416...81,350,179 		JBrowse link
G Hoxa13 homeo box A13 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:82,689,566...82,691,701
Ensembl chr 4:81,358,956...81,361,091 		JBrowse link
G Hoxa2 homeobox A2 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:82,593,389...82,597,589
Ensembl chr 4:81,262,768...81,265,044 		JBrowse link
G Hoxa3 homeobox A3 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:82,599,860...82,643,831
Ensembl chr 4:81,269,243...81,313,218 		JBrowse link
G Hoxa4 homeo box A4 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:82,620,294...82,622,302
Ensembl chr 4:81,289,682...81,291,685 		JBrowse link
G Hoxa5 homeo box A5 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:82,632,958...82,636,851
Ensembl chr 4:81,302,353...81,306,234 		JBrowse link
G Hoxa6 homeobox A6 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:82,637,024...82,639,463
Ensembl chr 4:81,306,407...81,308,850 		JBrowse link
G Hoxa7 homeobox A7 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:82,646,342...82,652,449
Ensembl chr 4:81,314,625...81,317,659 		JBrowse link
G Hoxa9 homeobox A9 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:82,653,847...82,659,958
Ensembl chr 4:81,323,382...81,326,358 		JBrowse link
G Hspb1 heat shock protein family B (small) member 1 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr12:26,430,640...26,432,301
Ensembl chr12:20,794,028...20,795,743 		JBrowse link
G Hus1 HUS1 checkpoint clamp component ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr14:87,902,458...87,917,221
Ensembl chr14:83,688,708...83,703,442 		JBrowse link
G Hyal4 hyaluronidase 4 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:54,221,728...54,240,364
Ensembl chr 4:53,256,179...53,274,819 		JBrowse link
G Hycc1 hyccin PI4KA lipid kinase complex subunit 1 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:12,024,692...12,131,504
Ensembl chr 4:11,132,385...11,239,113 		JBrowse link
G Ifrd1 interferon-related developmental regulator 1 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 6:62,996,560...63,044,996
Ensembl chr 6:57,269,384...57,288,990 		JBrowse link
G Ift22 intraflagellar transport 22 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr12:25,397,092...25,405,522
Ensembl chr12:19,761,790...19,768,809 		JBrowse link
G Ift56 intraflagellar transport 56 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:68,057,530...68,115,494
Ensembl chr 4:67,090,660...67,147,903 		JBrowse link
G Igf2bp3 insulin-like growth factor 2 mRNA binding protein 3 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:79,391,367...79,525,923
Ensembl chr 4:78,060,494...78,194,865 		JBrowse link
G Igfbp1 insulin-like growth factor binding protein 1 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr14:86,261,277...86,266,344
Ensembl chr14:82,047,415...82,052,482 		JBrowse link
G Igfbp3 insulin-like growth factor binding protein 3 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr14:86,270,208...86,277,944
Ensembl chr14:82,056,347...82,064,083 		JBrowse link
G Ikzf1 IKAROS family zinc finger 1 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr14:90,468,696...90,556,522
Ensembl chr14:86,255,065...86,342,416 		JBrowse link
G Il6 interleukin 6 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,213,394...5,219,178 		JBrowse link
G Immp2l inner mitochondrial membrane peptidase subunit 2 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 6:63,797,189...64,696,906
Ensembl chr 6:58,070,283...58,969,840 		JBrowse link
G Impdh1 inosine monophosphate dehydrogenase 1 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:58,767,230...58,782,825
Ensembl chr 4:57,801,831...57,819,076 		JBrowse link
G Ing3 inhibitor of growth family, member 3 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:51,439,218...51,469,502
Ensembl chr 4:50,477,962...50,503,715 		JBrowse link
G Inhba inhibin subunit beta A ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr17:53,787,159...53,810,942
Ensembl chr17:49,095,920...49,108,982 		JBrowse link
G Inmt indolethylamine N-methyltransferase ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:85,648,459...85,652,755
Ensembl chr 4:84,318,197...84,322,493 		JBrowse link
G Iqub IQ motif and ubiquitin domain containing ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:53,897,336...53,962,279
Ensembl chr 4:52,931,767...52,993,834 		JBrowse link
G Irf5 interferon regulatory factor 5 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:59,092,914...59,104,596
Ensembl chr 4:58,127,640...58,139,267 		JBrowse link
G Itgb8 integrin subunit beta 8 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 6:146,267,982...146,351,245
Ensembl chr 6:140,127,203...140,208,476 		JBrowse link
G Itprid1 ITPR interacting domain containing 1 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:85,015,264...85,172,457
Ensembl chr 4:85,015,190...85,172,331 		JBrowse link
G Jazf1 JAZF zinc finger 1 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:83,210,054...83,513,790
Ensembl chr 4:81,881,061...82,183,100 		JBrowse link
G Kbtbd2 kelch repeat and BTB domain containing 2 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:87,358,133...87,380,399
Ensembl chr 4:86,027,947...86,050,211 		JBrowse link
G Kcnd2 potassium voltage-gated channel subfamily D member 2 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:50,741,595...51,243,540
Ensembl chr 4:49,776,246...50,277,728 		JBrowse link
G Kcp kielin cysteine rich BMP regulator ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:59,048,209...59,083,522
Ensembl chr 4:58,082,857...58,109,768 		JBrowse link
G Kctd7 potassium channel tetramerization domain containing 7 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr12:32,157,141...32,168,463
Ensembl chr12:26,523,142...26,532,138 		JBrowse link
G Kdm7a lysine demethylase 7A ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:68,866,263...68,992,979
Ensembl chr 4:67,904,307...67,966,998 		JBrowse link
G Kiaa1549 KIAA1549 homolog ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:67,807,635...67,935,303
Ensembl chr 4:66,760,162...66,968,436 		JBrowse link
G Klf14 KLF transcription factor 14 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:60,521,363...60,524,285
Ensembl chr 4:59,554,011...59,556,933 		JBrowse link
G Klhdc10 kelch domain containing 10 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:59,988,710...60,046,518
Ensembl chr 4:59,021,310...59,074,941 		JBrowse link
G Klhl7 kelch-like family member 7 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:11,898,766...11,947,796
Ensembl chr 4:11,006,375...11,055,541 		JBrowse link
G Klrg2 killer cell lectin like receptor G2 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:68,314,347...68,341,759
Ensembl chr 4:67,363,919...67,374,147 		JBrowse link
G Kmt2e lysine methyltransferase 2E ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:12,550,570...12,655,329
Ensembl chr 4:11,658,979...11,727,373 		JBrowse link
G Kpna7 karyopherin subunit alpha 7 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr12:14,690,124...14,728,478
Ensembl chr12:9,576,378...9,612,833 		JBrowse link
G Krit1 KRIT1, ankyrin repeat containing ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:31,253,918...31,288,066
Ensembl chr 4:30,299,203...30,333,359 		JBrowse link
G Lamb1 laminin subunit beta 1 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 6:53,562,849...53,630,118
Ensembl chr 6:47,835,525...47,902,585 		JBrowse link
G Lamtor4 late endosomal/lysosomal adaptor, MAPK and MTOR activator 4 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr12:22,372,269...22,376,090
Ensembl chr12:17,258,623...17,262,480 		JBrowse link
G Lancl2 LanC like glutathione S-transferase 2 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:88,771,974...88,813,920
Ensembl chr 4:87,441,823...87,482,800 		JBrowse link
G Lat2 linker for activation of T cells family, member 2 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr12:27,740,647...27,754,760
Ensembl chr12:22,104,219...22,118,288 		JBrowse link
G Lep leptin ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:58,626,529...58,640,663
Ensembl chr 4:57,661,131...57,675,262 		JBrowse link
G Lhfpl3 LHFPL tetraspan subfamily member 3 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358
G Limk1 LIM domain kinase 1 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr12:27,663,177...27,697,085
Ensembl chr12:22,026,672...22,060,606 		JBrowse link
G Lmod2 leiomodin 2 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:54,032,974...54,040,670
Ensembl chr 4:53,067,428...53,075,120 		JBrowse link
G Lmtk2 lemur tyrosine kinase 2 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr12:15,540,428...15,622,392
Ensembl chr12:10,426,777...10,508,750 		JBrowse link
G LOC120095955 mucin-12-like ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr12:25,127,100...25,137,925 JBrowse link
G Lrch4 leucine rich repeats and calponin homology domain containing 4 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr12:24,694,364...24,709,354
Ensembl chr12:19,057,587...19,068,577 		JBrowse link
G Lrguk leucine-rich repeats and guanylate kinase domain containing ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:63,614,431...63,737,463
Ensembl chr 4:62,647,264...62,770,319 		JBrowse link
G Lrrc17 leucine rich repeat containing 17 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:14,393,632...14,424,048
Ensembl chr 4:13,501,436...13,531,845 		JBrowse link
G Lrrc4 leucine rich repeat containing 4 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:58,398,942...58,402,538
Ensembl chr 4:57,433,428...57,437,911 		JBrowse link
G Lrrc72 leucine rich repeat containing 72 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 6:58,662,611...58,722,844
Ensembl chr 6:52,935,387...52,995,540 		JBrowse link
G Lrrd1 leucine-rich repeats and death domain containing 1 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:31,219,573...31,247,702
Ensembl chr 4:30,264,862...30,293,173 		JBrowse link
G Lrrn3 leucine rich repeat neuronal 3 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 6:64,216,164...64,247,293
Ensembl chr 6:58,489,010...58,520,330 		JBrowse link
G Lrwd1 leucine-rich repeats and WD repeat domain containing 1 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr12:26,166,648...26,179,689
Ensembl chr12:20,530,012...20,549,536 		JBrowse link
G Lsm5 LSM5 homolog, U6 small nuclear RNA and mRNA degradation associated ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:87,281,260...87,284,476
Ensembl chr 6:104,652,477...104,654,165
Ensembl chr 4:104,652,477...104,654,165 		JBrowse link
G Lsm8 LSM8 homolog, U6 small nuclear RNA associated ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:48,272,128...48,277,994
Ensembl chr 4:47,306,295...47,314,293 		JBrowse link
G Lsmem1 leucine-rich single-pass membrane protein 1 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 6:62,978,880...62,988,750
Ensembl chr 6:57,252,056...57,261,653 		JBrowse link
G Luc7l2 LUC7-like 2 pre-mRNA splicing factor ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:68,251,435...68,314,861
Ensembl chr 4:67,287,640...67,347,964 		JBrowse link
G Macc1 MET transcriptional regulator MACC1 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 6:146,495,544...146,574,254
Ensembl chr 6:140,352,755...140,430,255 		JBrowse link
G Magi2 membrane associated guanylate kinase, WW and PDZ domain containing 2 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:15,278,518...16,762,427
Ensembl chr 4:14,386,399...15,870,240 		JBrowse link
G Malsu1 mitochondrial assembly of ribosomal large subunit 1 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:79,381,963...79,390,786
Ensembl chr 4:78,051,059...78,059,905 		JBrowse link
G Matcap2 microtubule associated tyrosine carboxypeptidase 2 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 8:20,921,637...20,971,076
Ensembl chr 8:20,921,244...20,971,069 		JBrowse link
G Mblac1 metallo-beta-lactamase domain containing 1 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr12:22,185,142...22,186,404
Ensembl chr12:17,071,465...17,072,735 		JBrowse link
G Mcm7 minichromosome maintenance complex component 7 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr12:22,155,921...22,163,320
Ensembl chr12:17,042,212...17,050,063 		JBrowse link
G Mdfic MyoD family inhibitor domain containing ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:44,938,301...45,018,157
Ensembl chr 4:43,972,507...44,052,161 		JBrowse link
G Mdh2 malate dehydrogenase 2 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr12:26,530,886...26,543,841
Ensembl chr12:20,894,262...20,907,271 		JBrowse link
G Meox2 mesenchyme homeobox 2 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 6:59,584,025...59,644,722
Ensembl chr 6:53,856,758...53,917,467 		JBrowse link
G Mepce methylphosphate capping enzyme ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr12:24,548,596...24,553,315
Ensembl chr12:18,911,796...18,916,514 		JBrowse link
G Mest mesoderm specific transcript ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:60,321,814...60,332,288
Ensembl chr 4:59,354,447...59,366,145 		JBrowse link
G Met MET proto-oncogene, receptor tyrosine kinase ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:46,756,823...46,864,041
Ensembl chr 4:45,790,791...45,897,876 		JBrowse link
G Mettl27 methyltransferase like 27 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr12:27,394,067...27,403,220
Ensembl chr12:21,757,329...21,766,685 		JBrowse link
G Mindy4 MINDY lysine 48 deubiquitinase 4 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:85,689,049...85,797,553
Ensembl chr 4:84,358,902...84,463,395 		JBrowse link
G Mir106b microRNA 106b ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr12:22,157,053...22,157,134
Ensembl chr12:17,043,344...17,043,425 		JBrowse link
G Mir148a microRNA 148a ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:81,664,431...81,664,527
Ensembl chr 4:80,333,762...80,333,858 		JBrowse link
G Mir182 microRNA 182 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:59,752,246...59,752,307
Ensembl chr 4:58,784,818...58,784,879 		JBrowse link
G Mir183 microRNA 183 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:59,756,044...59,756,153
Ensembl chr 4:58,788,614...58,788,723 		JBrowse link
G Mir196b microRNA 196b ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:82,661,101...82,661,185
Ensembl chr 4:81,330,487...81,330,571 		JBrowse link
G Mir25 microRNA 25 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr12:22,156,641...22,156,724
Ensembl chr12:17,042,932...17,043,015 		JBrowse link
G Mir29a microRNA 29a ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:60,617,955...60,618,042 JBrowse link
G Mir29b1 microRNA 29b-1 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:60,618,334...60,618,414
Ensembl chr 4:59,650,986...59,651,067 		JBrowse link
G Mir489 microRNA 489 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:32,648,039...32,648,144
Ensembl chr 4:31,693,355...31,693,460 		JBrowse link
G Mir93 microRNA 93 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr12:22,156,844...22,156,930
Ensembl chr12:17,043,135...17,043,221 		JBrowse link
G Mir96 microRNA 96 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:59,755,841...59,755,946
Ensembl chr 4:58,788,411...58,788,516 		JBrowse link
G Mkln1 muskelin 1 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:60,939,239...61,095,214
Ensembl chr 4:60,002,464...60,123,993 		JBrowse link
G Mkrn1 makorin ring finger protein 1 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:68,175,908...68,197,216
Ensembl chr 4:68,175,909...68,197,165
Ensembl chr 9:68,175,909...68,197,165 		JBrowse link
G Mlxipl MLX interacting protein-like ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr12:27,178,158...27,213,675
Ensembl chr12:21,543,576...21,577,112 		JBrowse link
G Mogat3 monoacylglycerol O-acyltransferase 3 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr12:25,305,390...25,307,024
Ensembl chr12:19,668,788...19,670,754 		JBrowse link
G Mospd3 motile sperm domain containing 3 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr12:24,728,012...24,737,078
Ensembl chr12:19,095,242...19,099,477 		JBrowse link
G Mplkip M-phase specific PLK1 interacting protein ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr17:52,069,154...52,071,978
Ensembl chr17:47,373,845...47,376,204 		JBrowse link
G Mrpl32 mitochondrial ribosomal protein L32 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr17:55,260,651...55,263,517
Ensembl chr17:50,565,055...50,568,010 		JBrowse link
G Mrps17 mitochondrial ribosomal protein S17 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr12:32,584,635...32,587,934
Ensembl chr12:26,948,730...26,951,737
Ensembl chr12:26,948,730...26,951,737 		JBrowse link
G Mrps24 mitochondrial ribosomal protein S24 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr14:84,798,649...84,802,777
Ensembl chr14:80,584,673...80,588,871 		JBrowse link
G Mterf1 mitochondrial transcription termination factor 1 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:31,181,048...31,188,130
Ensembl chr 4:30,226,343...30,233,584 		JBrowse link
G Mtpn myotrophin ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:65,126,390...65,153,803
Ensembl chr 4:64,157,641...64,186,724 		JBrowse link
G Mturn maturin, neural progenitor differentiation regulator homolog ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:85,137,825...85,158,790
Ensembl chr 4:83,807,579...83,824,950 		JBrowse link
G Muc17 mucin 17, cell surface associated ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr12:25,139,076...25,175,249
Ensembl chr12:19,527,321...19,538,522 		JBrowse link
G Muc3a mucin 3A, cell surface associated ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr12:25,082,728...25,091,494
Ensembl chr12:19,446,094...19,460,522 		JBrowse link
G Myl10 myosin light chain 10 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr12:25,606,558...25,619,270
Ensembl chr12:19,970,055...19,978,614 		JBrowse link
G Myl7 myosin light chain 7 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr14:84,994,644...84,997,173
Ensembl chr14:80,779,776...80,783,244 		JBrowse link
G Myo1g myosin IG ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr14:85,600,619...85,615,760
Ensembl chr14:81,386,701...81,401,843 		JBrowse link
G Nacad NAC alpha domain containing ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr14:85,679,215...85,688,742
Ensembl chr14:81,465,299...81,473,781 		JBrowse link
G Nampt nicotinamide phosphoribosyltransferase ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 6:55,152,756...55,189,547
Ensembl chr 6:49,424,332...49,462,100 		JBrowse link
G Napepld N-acyl phosphatidylethanolamine phospholipase D ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:14,251,591...14,291,010
Ensembl chr 4:13,361,006...13,398,748 		JBrowse link
G Ncf1 neutrophil cytosolic factor 1 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr12:28,121,816...28,131,080
Ensembl chr12:22,485,451...22,494,646 		JBrowse link
G Ndufa5 NADH:ubiquinone oxidoreductase subunit A5 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:53,962,877...53,971,235
Ensembl chr 4:52,995,546...53,005,598
Ensembl chr 5:52,995,546...53,005,598 		JBrowse link
G Ndufb2 NADH:ubiquinone oxidoreductase subunit B2 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:69,334,307...69,341,394
Ensembl chr15:46,536,062...46,536,851
Ensembl chr 4:46,536,062...46,536,851 		JBrowse link
G Neurod6 neuronal differentiation 6 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:86,176,909...86,180,155
Ensembl chr 4:84,846,231...84,849,999 		JBrowse link
G Nfe2l3 NFE2 like bZIP transcription factor 3 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:81,837,404...81,865,258
Ensembl chr 4:80,506,756...80,534,629 		JBrowse link
G Nipsnap2 nipsnap homolog 2 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr12:32,542,171...32,580,345
Ensembl chr12:26,911,723...26,944,166 		JBrowse link
G Nme8 NME/NM23 family member 8 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr17:49,932,861...50,000,610
Ensembl chr17:45,238,120...45,304,948 		JBrowse link
G Nod1 nucleotide-binding oligomerization domain containing 1 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:85,391,142...85,442,281
Ensembl chr 4:84,060,880...84,111,404 		JBrowse link
G Npc1l1 NPC1 like intracellular cholesterol transporter 1 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr14:85,285,387...85,305,050
Ensembl chr14:81,071,451...81,091,113 		JBrowse link
G Npsr1 neuropeptide S receptor 1 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 8:30,882,830...31,107,425
Ensembl chr 8:22,606,946...22,831,558 		JBrowse link
G Nptx2 neuronal pentraxin 2 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr12:15,151,136...15,162,045
Ensembl chr12:10,037,435...10,048,345 		JBrowse link
G Npvf neuropeptide VF precursor ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:81,043,128...81,047,045
Ensembl chr 4:79,712,520...79,716,236 		JBrowse link
G Npy neuropeptide Y ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:80,212,111...80,219,310
Ensembl chr 4:78,881,264...78,888,495 		JBrowse link
G Nrcam neuronal cell adhesion molecule ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 6:67,129,723...67,425,510
Ensembl chr 6:61,329,863...61,702,992 		JBrowse link
G Nrf1 nuclear respiratory factor 1 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:59,632,366...59,738,166
Ensembl chr 4:58,664,957...58,825,328 		JBrowse link
G Nsun5 NOP2/Sun RNA methyltransferase 5 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr12:26,930,204...26,935,887
Ensembl chr12:21,293,645...21,299,272 		JBrowse link
G Nt5c3a 5'-nucleotidase, cytosolic IIIA ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:87,491,828...87,534,838
Ensembl chr 4:86,161,643...86,204,628 		JBrowse link
G Nudcd3 NudC domain containing 3 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr14:85,190,276...85,273,655
Ensembl chr14:80,976,328...81,058,962 		JBrowse link
G Nup205 nucleoporin 205 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:64,822,051...64,887,996
Ensembl chr 4:63,854,783...63,920,844 		JBrowse link
G Nup42 nucleoporin 42 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:10,985,554...11,002,591
Ensembl chr 4:10,985,554...11,002,591 		JBrowse link
G Nupr2 nuclear protein 2, transcriptional regulator ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr12:32,436,233...32,439,391
Ensembl chr12:26,799,800...26,803,304 		JBrowse link
G Nyap1 neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr12:18,956,192...18,967,624
Ensembl chr12:18,956,268...18,967,543 		JBrowse link
G Ogdh oxoglutarate dehydrogenase ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr14:85,363,949...85,431,405
Ensembl chr14:81,150,091...81,217,479 		JBrowse link
G Opn1sw opsin 1, short wave sensitive ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:58,942,685...58,945,825
Ensembl chr 4:57,977,313...57,980,457 		JBrowse link
G Orai2 ORAI calcium release-activated calcium modulator 2 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr12:26,136,922...26,157,041
Ensembl chr12:20,497,317...20,520,428 		JBrowse link
G Orc5 origin recognition complex, subunit 5 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:13,440,264...13,504,888
Ensembl chr 4:12,548,007...12,612,568 		JBrowse link
G Osbpl3 oxysterol binding protein-like 3 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:80,677,383...80,854,169
Ensembl chr 4:79,350,349...79,523,393 		JBrowse link
G Pals2 protein associated with LIN7 2, MAGUK p55 family member ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:80,504,298...80,584,951
Ensembl chr 4:79,124,806...79,254,140 		JBrowse link
G Parp12 poly (ADP-ribose) polymerase family, member 12 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:68,793,411...68,851,214
Ensembl chr 4:67,839,237...67,883,685 		JBrowse link
G Pax4 paired box 4 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:58,023,873...58,032,265
Ensembl chr 4:57,058,462...57,063,408 		JBrowse link
G Pclo piccolo (presynaptic cytomatrix protein) ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:20,646,604...21,005,171
Ensembl chr 4:19,695,315...20,049,885 		JBrowse link
G Pcolce procollagen C-endopeptidase enhancer ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr12:24,720,972...24,727,287
Ensembl chr12:19,084,210...19,090,508 		JBrowse link
G Pdap1 PDGFA associated protein 1 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr12:14,584,414...14,594,641
Ensembl chr12:9,470,574...9,535,374 		JBrowse link
G Pde1c phosphodiesterase 1C ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:86,629,074...87,108,147
Ensembl chr 4:85,300,858...85,863,219 		JBrowse link
G Pdk4 pyruvate dehydrogenase kinase 4 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:34,558,327...34,568,329
Ensembl chr 4:33,589,799...33,601,850 		JBrowse link
G Peg10 paternally expressed 10 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:33,809,026...33,822,224
Ensembl chr 4:32,848,493...32,852,621 		JBrowse link
G Pex1 peroxisomal biogenesis factor 1 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:31,474,670...31,513,621
Ensembl chr 4:30,519,955...30,558,921 		JBrowse link
G Pgam2 phosphoglycerate mutase 2 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr14:84,895,763...84,897,874
Ensembl chr14:80,681,776...80,683,940 		JBrowse link
G Phkg1 phosphorylase kinase catalytic subunit gamma 1 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr12:32,474,926...32,490,657
Ensembl chr12:26,838,968...26,852,850 		JBrowse link
G Phtf2 putative homeodomain transcription factor 2 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:15,107,341...15,222,683
Ensembl chr 4:14,215,263...14,330,513 		JBrowse link
G Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 6:54,494,247...54,529,563
Ensembl chr 6:48,766,864...48,802,043 		JBrowse link
G Pilra paired immunoglobin-like type 2 receptor alpha ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr12:23,452,626...23,464,772
Ensembl chr12:17,787,127...17,798,094 		JBrowse link
G Pkd1l1 polycystin 1 like 1, transient receptor potential channel interacting ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr14:87,766,745...87,888,647
Ensembl chr14:83,545,469...83,638,498 		JBrowse link
G Plekha8 pleckstrin homology domain containing A8 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:85,053,765...85,104,376
Ensembl chr 4:83,723,561...83,774,081 		JBrowse link
G Plod3 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr12:25,313,070...25,323,631
Ensembl chr12:19,676,386...19,686,960 		JBrowse link
G Plxna4 plexin A4 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:61,687,483...62,129,467
Ensembl chr 4:60,720,255...61,162,206 		JBrowse link
G Pmpcb peptidase, mitochondrial processing subunit beta ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:14,189,807...14,202,584
Ensembl chr 4:13,297,559...13,310,367 		JBrowse link
G Pnpla8 patatin-like phospholipase domain containing 8 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 6:67,056,783...67,118,714
Ensembl chr 6:61,329,810...61,391,734 		JBrowse link
G Podxl podocalyxin-like ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:61,102,434...61,149,131
Ensembl chr 4:60,135,109...60,181,899 		JBrowse link
G Pold2 DNA polymerase delta 2, accessory subunit ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr14:84,962,933...84,969,148
Ensembl chr14:80,748,974...80,755,160 		JBrowse link
G Polm DNA polymerase mu ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr14:84,921,039...84,930,649
Ensembl chr14:80,706,345...80,717,086 		JBrowse link
G Polr1f RNA polymerase I subunit F ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 6:55,780,706...55,797,935
Ensembl chr 6:50,053,289...50,070,514 		JBrowse link
G Polr2j RNA polymerase II subunit J ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr12:26,179,649...26,185,201
Ensembl chr12:20,543,038...20,548,594 		JBrowse link
G Pom121 POM121 transmembrane nucleoporin ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr12:26,913,513...26,930,861
Ensembl chr12:21,276,913...21,294,294 		JBrowse link
G Pom121l12 POM121 transmembrane nucleoporin-like 12 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr14:89,108,535...89,109,604
Ensembl chr14:89,108,572...89,109,408 		JBrowse link
G Pon1 paraoxonase 1 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 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 ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 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 ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:34,323,546...34,350,244
Ensembl chr 4:33,349,168...33,383,855 		JBrowse link
G Pop7 POP7 homolog, ribonuclease P/MRP subunit ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr12:24,826,161...24,827,202
Ensembl chr12:19,189,138...19,190,674 		JBrowse link
G Por cytochrome p450 oxidoreductase ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr12:26,587,674...26,655,612
Ensembl chr12:20,951,058...20,999,245 		JBrowse link
G Pot1 protection of telomeres 1 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:55,170,821...55,228,588
Ensembl chr 4:54,205,332...54,263,042 		JBrowse link
G Pou6f2 POU class 6 homeobox 2 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr17:51,040,522...51,616,716
Ensembl chr17:46,472,181...46,921,039 		JBrowse link
G Ppia peptidylprolyl isomerase A ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr14:85,491,223...85,496,884
Ensembl chr14:81,275,091...81,299,601 		JBrowse link
G Ppp1r17 protein phosphatase 1, regulatory subunit 17 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:85,213,595...85,230,607
Ensembl chr 4:85,213,887...85,230,603 		JBrowse link
G Ppp1r35 protein phosphatase 1, regulatory subunit 35 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr12:24,552,709...24,556,040 JBrowse link
G Ppp1r3a protein phosphatase 1, regulatory subunit 3A ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:43,905,648...43,946,236
Ensembl chr 4:42,939,599...42,980,638 		JBrowse link
G Ppp1r9a protein phosphatase 1, regulatory subunit 9A ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:33,936,949...34,258,927
Ensembl chr 4:33,024,450...33,286,907 		JBrowse link
G Prkar2b protein kinase cAMP-dependent type II regulatory subunit beta ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 6:54,291,143...54,381,639
Ensembl chr 6:48,563,662...48,653,933 		JBrowse link
G Prkrip1 PRKR interacting protein 1 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr12:26,107,422...26,128,404
Ensembl chr12:20,470,820...20,489,115 		JBrowse link
G Prps1l1 phosphoribosyl pyrophosphate synthetase 1-like 1 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 6:57,412,331...57,414,021
Ensembl chr 6:51,684,948...51,687,291 		JBrowse link
G Prr15 proline rich 15 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:83,432,002...83,435,582
Ensembl chr 4:83,431,758...83,437,436 		JBrowse link
G Prrt4 proline-rich transmembrane protein 4 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:58,731,447...58,742,408
Ensembl chr 4:57,766,263...57,777,020 		JBrowse link
G Psma2 proteasome 20S subunit alpha 2 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr17:55,250,054...55,260,441
Ensembl chr17:50,551,924...50,564,938 		JBrowse link
G Psmc2 proteasome 26S subunit, ATPase 2 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:14,148,080...14,162,390
Ensembl chr 4:13,255,856...13,270,185 		JBrowse link
G Psph phosphoserine phosphatase ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr12:32,527,091...32,541,182
Ensembl chr12:26,883,133...26,905,074 		JBrowse link
G Ptcd1 pentatricopeptide repeat domain 1 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr12:14,559,419...14,577,198
Ensembl chr12:9,445,714...9,463,508 		JBrowse link
G Ptn pleiotrophin ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:66,260,764...66,342,614
Ensembl chr 4:65,293,734...65,375,456 		JBrowse link
G Ptpn12 protein tyrosine phosphatase, non-receptor type 12 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:14,913,071...14,985,084
Ensembl chr 4:14,021,052...14,092,927 		JBrowse link
G Ptprz1 protein tyrosine phosphatase, receptor type Z1 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:52,363,006...52,560,905
Ensembl chr 4:51,397,601...51,595,218 		JBrowse link
G Purb purine rich element binding protein B ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr14:85,556,296...85,558,779
Ensembl chr14:81,336,448...81,351,432 		JBrowse link
G Pus7 pseudouridine synthase 7 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:12,252,553...12,293,547
Ensembl chr 4:11,360,188...11,401,172 		JBrowse link
G Pvrig PVR related immunoglobulin domain containing ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr12:22,474,441...22,479,191
Ensembl chr12:17,364,080...17,365,280 		JBrowse link
G Rab19 RAB19, member RAS oncogene family ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:69,123,962...69,133,691
Ensembl chr 4:68,156,881...68,166,886 		JBrowse link
G Rabgef1 RAB guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr12:32,096,338...32,139,949
Ensembl chr12:26,460,175...26,503,744 		JBrowse link
G Rala RAS like proto-oncogene A ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr17:51,787,682...51,840,738
Ensembl chr17:47,092,207...47,144,063 		JBrowse link
G Ramp3 receptor activity modifying protein 3 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr14:85,741,314...85,758,813
Ensembl chr14:81,527,385...81,544,902 		JBrowse link
G Rapgef5 Rap guanine nucleotide exchange factor 5 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 6:144,588,162...144,822,908
Ensembl chr 6:138,437,991...138,679,936 		JBrowse link
G Rasa4 RAS p21 protein activator 4 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr12:20,552,805...20,580,177
Ensembl chr12:20,552,806...20,580,147 		JBrowse link
G Rbm28 RNA binding motif protein 28 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:58,688,337...58,727,312
Ensembl chr 4:57,722,223...57,761,653 		JBrowse link
G Rbm48 RNA binding motif protein 48 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:30,559,063...30,569,409
Ensembl chr 4:30,559,087...30,569,406 		JBrowse link
G Rcc1l RCC1 like ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr12:28,179,205...28,210,462
Ensembl chr12:22,543,734...22,574,036 		JBrowse link
G Reln reelin ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:13,628,440...14,055,201
Ensembl chr 4:12,736,130...13,162,211 		JBrowse link
G Rfc2 replication factor C subunit 2 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr12:27,756,920...27,770,049
Ensembl chr12:22,120,010...22,133,557 		JBrowse link
G Rhbdd2 rhomboid domain containing 2 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr12:26,680,206...26,690,926
Ensembl chr12:21,043,608...21,054,289 		JBrowse link
G Rint1 RAD50 interactor 1 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:12,211,806...12,248,117
Ensembl chr 4:11,320,955...11,355,736 		JBrowse link
G Rnf133 ring finger protein 133 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:53,106,097...53,109,032
Ensembl chr 4:52,140,247...52,143,379 		JBrowse link
G Rnf148 ring finger protein 148 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:52,145,798...52,152,508 JBrowse link
G Rp9 RP9, pre-mRNA splicing factor ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 8:29,218,564...29,281,211
Ensembl chr 8:20,941,362...21,005,175 		JBrowse link
G Rsbn1l round spermatid basic protein 1-like ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:14,138,076...14,203,972
Ensembl chr 4:14,139,031...14,201,147 		JBrowse link
G Rundc3b RUN domain containing 3B ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:25,462,543...25,599,477
Ensembl chr 4:25,462,752...25,599,471 		JBrowse link
G Samd9 sterile alpha motif domain containing 9 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:32,119,318...32,139,008
Ensembl chr 4:31,164,510...31,184,322 		JBrowse link
G Samd9l sterile alpha motif domain containing 9 like ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:32,316,748...32,331,112
Ensembl chr 4:31,361,669...31,376,415 		JBrowse link
G Samtor S-adenosylmethionine sensor upstream of mTORC1 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:42,847,720...42,911,546
Ensembl chr 4:41,879,993...41,945,539 		JBrowse link
G Sap25 Sin3A-associated protein 25 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr12:24,692,548...24,693,683
Ensembl chr12:19,055,763...19,076,089 		JBrowse link
G Sbds Sbds, ribosome maturation factor ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr12:32,056,649...32,065,816
Ensembl chr12:26,420,414...26,429,649 		JBrowse link
G Scin scinderin ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 6:62,836,641...62,915,287
Ensembl chr 6:57,109,403...57,188,242 		JBrowse link
G Scrn1 secernin 1 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:84,962,450...85,024,577
Ensembl chr 4:83,632,131...83,693,852 		JBrowse link
G Sdhaf3 succinate dehydrogenase complex assembly factor 3 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:36,066,963...36,127,168
Ensembl chr 4:35,100,506...35,160,749 		JBrowse link
G Sec61g Sec61 translocon subunit gamma ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr14:95,113,083...95,119,458
Ensembl chr14:90,899,768...90,906,162
Ensembl chr 9:90,899,768...90,906,162 		JBrowse link
G Sem1 SEM1 26S proteasome subunit ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:35,638,306...35,658,462
Ensembl chr 4:34,671,848...34,692,005 		JBrowse link
G Sema3a semaphorin 3A ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:22,239,418...22,709,907
Ensembl chr 4:21,287,982...21,494,432 		JBrowse link
G Sema3c semaphorin 3C ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:18,538,452...18,702,453
Ensembl chr 4:17,583,212...17,746,534 		JBrowse link
G Sema3d semaphorin 3D ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:23,271,815...23,460,971
Ensembl chr 4:22,316,779...22,505,930 		JBrowse link
G Sema3e semaphorin 3E ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:21,252,686...21,510,449
Ensembl chr 4:20,299,718...20,555,229 		JBrowse link
G Septin14 septin 14 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr12:32,610,600...32,641,391
Ensembl chr12:26,975,344...26,998,299 		JBrowse link
G Septin7 septin 7 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 8:31,995,597...32,059,069
Ensembl chr 8:23,716,030...23,783,243 		JBrowse link
G Serpine1 serpin family E member 1 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr12:25,237,977...25,248,356
Ensembl chr12:19,601,272...19,611,657 		JBrowse link
G Sfrp4 secreted frizzled-related protein 4 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr17:49,974,532...50,026,448
Ensembl chr17:45,234,097...45,330,736 		JBrowse link
G Sgce sarcoglycan, epsilon ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:33,738,066...33,808,907
Ensembl chr 4:32,771,477...32,842,254 		JBrowse link
G Sh2b2 SH2B adaptor protein 2 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr12:26,063,812...26,093,468
Ensembl chr12:20,429,043...20,456,844 		JBrowse link
G Skap2 src kinase associated phosphoprotein 2 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:82,281,221...82,431,664
Ensembl chr 4:80,950,580...81,100,891 		JBrowse link
G Slc12a9 solute carrier family 12, member 9 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr12:25,005,741...25,022,628
Ensembl chr12:19,369,004...19,385,877 		JBrowse link
G Slc13a1 solute carrier family 13 member 1 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:53,534,763...53,612,704
Ensembl chr 4:52,569,375...52,647,099 		JBrowse link
G Slc13a4 solute carrier family 13 member 4 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:64,910,505...64,955,986
Ensembl chr 4:63,943,395...63,988,857 		JBrowse link
G Slc25a13 solute carrier family 25 member 13 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:35,145,721...35,328,403
Ensembl chr 4:34,179,224...34,361,902 		JBrowse link
G Slc25a40 solute carrier family 25, member 40 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:26,544,288...26,631,439
Ensembl chr 4:25,589,360...25,676,472 		JBrowse link
G Slc26a3 solute carrier family 26 member 3 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 6:53,751,415...53,792,300
Ensembl chr 6:48,023,892...48,064,772 		JBrowse link
G Slc26a4 solute carrier family 26 member 4 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 6:53,835,102...53,873,968
Ensembl chr 6:48,107,588...48,145,703 		JBrowse link
G Slc26a5 solute carrier family 26 member 5 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:14,102,492...14,141,520
Ensembl chr 4:13,210,260...13,249,289 		JBrowse link
G Slc35b4 solute carrier family 35 member B4 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:63,744,188...63,766,200
Ensembl chr 4:62,776,993...62,799,003 		JBrowse link
G Slc37a3 solute carrier family 37, member 3 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:68,109,314...68,153,590
Ensembl chr 4:68,081,939...68,153,568 		JBrowse link
G Smkr1 small lysine-rich protein 1 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:58,595,363...58,609,149
Ensembl chr 4:58,601,660...58,609,229 		JBrowse link
G Smo smoothened, frizzled class receptor ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:59,311,084...59,341,280
Ensembl chr 4:58,343,529...58,373,829 		JBrowse link
G Smurf1 SMAD specific E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr12:14,748,717...14,840,273
Ensembl chr12:9,635,025...9,726,519 		JBrowse link
G Snd1 staphylococcal nuclease and tudor domain containing 1 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:58,060,689...58,459,926
Ensembl chr 4:57,095,208...57,530,843 		JBrowse link
G Snora5c small nucleolar RNA, H/ACA box 5C ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr14:85,701,133...85,701,269
Ensembl chr14:81,487,218...81,487,354 		JBrowse link
G Snx10 sorting nexin 10 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:81,943,262...82,007,667
Ensembl chr 4:80,612,669...80,676,996 		JBrowse link
G Snx13 sorting nexin 13 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 6:57,478,139...57,589,624
Ensembl chr 6:51,753,036...51,860,224 		JBrowse link
G Sostdc1 sclerostin domain containing 1 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 6:58,778,623...58,782,797
Ensembl chr 6:53,051,354...53,055,579 		JBrowse link
G Sp4 Sp4 transcription factor ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 6:145,330,416...145,395,750
Ensembl chr 6:139,192,147...139,252,126 		JBrowse link
G Sp8 Sp8 transcription factor ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 6:145,959,219...145,961,824
Ensembl chr 6:139,814,819...139,823,168
Ensembl chr 6:139,814,819...139,823,168 		JBrowse link
G Spacdr sperm acrosome developmental regulator ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr12:24,567,407...24,573,586
Ensembl chr12:18,914,398...18,952,008 		JBrowse link
G Spam1 sperm adhesion molecule 1 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:54,268,287...54,278,455
Ensembl chr 4:53,302,745...53,312,908 		JBrowse link
G Spmip4 sperm microtubule inner protein 4 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:80,994,146...81,019,062
Ensembl chr 4:79,663,376...79,689,072 		JBrowse link
G Spmip7 sperm microtubule inner protein 7 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr14:86,030,427...86,085,644
Ensembl chr14:86,030,655...86,085,644 		JBrowse link
G Sri sorcin ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:26,928,338...26,952,980
Ensembl chr 4:25,966,750...25,998,077 		JBrowse link
G Srpk2 SRSF protein kinase 2 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:12,356,983...12,548,345
Ensembl chr 4:11,464,674...11,655,990 		JBrowse link
G Srrm3 serine/arginine repetitive matrix 3 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr12:26,445,718...26,515,185
Ensembl chr12:20,809,089...20,878,505 		JBrowse link
G Srrt serrate, RNA effector molecule ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr12:25,027,883...25,042,847
Ensembl chr12:19,392,625...19,406,095 		JBrowse link
G Ssc4d scavenger receptor cysteine rich family member with 4 domains ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr12:20,702,931...20,723,732
Ensembl chr12:20,702,950...20,718,706 		JBrowse link
G Ssmem1 serine-rich single-pass membrane protein 1 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:59,128,730...59,139,029
Ensembl chr 4:59,128,730...59,145,007 		JBrowse link
G St7 suppression of tumorigenicity 7 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:47,007,568...47,255,639
Ensembl chr 4:46,042,236...46,289,740 		JBrowse link
G Stag3 STAG3 cohesin complex component ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr12:22,398,291...22,428,548
Ensembl chr12:17,284,794...17,314,935 		JBrowse link
G Stard3nl STARD3 N-terminal like ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr17:50,278,859...50,312,864
Ensembl chr17:45,583,266...45,617,226 		JBrowse link
G Steap1 STEAP family member 1 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:29,231,809...29,242,317
Ensembl chr 4:28,276,909...28,287,479 		JBrowse link
G Steap2 STEAP2 metalloreductase ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:29,302,487...29,323,006
Ensembl chr 4:28,348,362...28,375,791 		JBrowse link
G Steap4 STEAP4 metalloreductase ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:27,032,096...27,054,769
Ensembl chr 4:26,054,671...26,099,859 		JBrowse link
G Stk31 serine threonine kinase 31 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:79,701,470...79,797,085
Ensembl chr 4:78,370,649...78,466,240 		JBrowse link
G Stmp1 short transmembrane mitochondrial protein 1 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:64,894,663...64,904,495 JBrowse link
G Stra8 stimulated by retinoic acid 8 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:64,568,580...64,591,914
Ensembl chr 4:63,601,604...63,624,771 		JBrowse link
G Strip2 striatin interacting protein 2 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:59,503,478...59,545,745
Ensembl chr 4:58,536,055...58,578,291 		JBrowse link
G Stx1a syntaxin 1A ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr12:27,278,517...27,306,547
Ensembl chr12:21,641,969...21,669,930 		JBrowse link
G Styxl1 serine/threonine/tyrosine interacting-like 1 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr12:26,544,059...26,576,365
Ensembl chr12:20,907,435...20,939,752 		JBrowse link
G Sugct succinylCoA:glutarate-CoA transferase ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr17:52,072,012...52,929,852
Ensembl chr17:47,376,521...48,234,376 		JBrowse link
G Sumf2 sulfatase modifying factor 2 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr12:32,489,671...32,507,941
Ensembl chr12:26,853,200...26,871,816 		JBrowse link
G Sun3 Sad1 and UNC84 domain containing 3 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr14:87,923,891...87,962,699
Ensembl chr14:83,710,140...83,735,830 		JBrowse link
G Svopl SVOP like ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:67,663,652...67,725,691
Ensembl chr 4:66,698,177...66,758,978 		JBrowse link
G Sypl1 synaptophysin-like 1 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 6:55,292,555...55,311,519
Ensembl chr 6:49,565,154...49,585,330 		JBrowse link
G Tac1 tachykinin, precursor 1 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:36,645,344...36,653,548
Ensembl chr 4:35,679,704...35,687,178 		JBrowse link
G Taf6 TATA-box binding protein associated factor 6 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr12:22,169,570...22,178,031
Ensembl chr12:17,055,873...17,064,247 		JBrowse link
G Tas2r118 taste receptor, type 2, member 118 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:53,414,815...53,415,714
Ensembl chr 4:52,449,208...52,450,107 		JBrowse link
G Tax1bp1 Tax1 binding protein 1 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:83,152,549...83,208,463
Ensembl chr 4:81,821,989...81,879,100 		JBrowse link
G Tbl2 transducin (beta)-like 2 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr12:27,154,150...27,168,446
Ensembl chr12:21,520,682...21,531,896 		JBrowse link
G Tbrg4 transforming growth factor beta regulator 4 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr14:85,696,738...85,704,691
Ensembl chr14:81,481,981...81,490,756 		JBrowse link
G Tbx20 T-box transcription factor 20 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 8:31,475,963...31,534,051
Ensembl chr 8:23,204,507...23,258,175 		JBrowse link
G Tbxas1 thromboxane A synthase 1 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:68,631,841...68,803,959
Ensembl chr 4:67,665,007...67,837,096 		JBrowse link
G Tcrg T cell receptor gamma chain ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr17:45,622,041...45,666,123 JBrowse link
G Tecpr1 tectonin beta-propeller repeat containing 1 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr12:15,504,456...15,534,541
Ensembl chr12:10,391,696...10,419,611 		JBrowse link
G Tes testin LIM domain protein ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:46,331,257...46,369,782
Ensembl chr 4:45,365,285...45,403,829 		JBrowse link
G Tex47 testis expressed 47 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:26,644,098...26,647,393
Ensembl chr 4:26,599,738...26,647,430 		JBrowse link
G Tfec transcription factor EC ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:46,072,093...46,146,200
Ensembl chr 4:45,107,641...45,180,236 		JBrowse link
G Tfpi2 tissue factor pathway inhibitor 2 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:32,936,462...32,941,385
Ensembl chr 4:31,982,178...31,986,600 		JBrowse link
G Tfr2 transferrin receptor 2 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr12:24,744,450...24,761,413
Ensembl chr12:19,107,673...19,124,591 		JBrowse link
G Tmed4 transmembrane p24 trafficking protein 4 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr14:85,338,980...85,343,577
Ensembl chr14:81,125,053...81,129,631 		JBrowse link
G Tmem106b transmembrane protein 106B ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:42,294,074...42,313,426
Ensembl chr 4:41,327,994...41,345,619 		JBrowse link
G Tmem120a transmembrane protein 120A ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr12:26,578,859...26,587,524
Ensembl chr12:20,942,439...20,990,316 		JBrowse link
G Tmem130 transmembrane protein 130 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr12:14,950,784...14,976,571
Ensembl chr12:9,837,055...9,862,840 		JBrowse link
G Tmem140 transmembrane protein 140 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:64,503,621...64,514,620
Ensembl chr 4:63,536,168...63,548,455 		JBrowse link
G Tmem168 transmembrane protein 168 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:42,796,714...42,824,854
Ensembl chr 4:41,830,624...41,858,776 		JBrowse link
G Tmem196 transmembrane protein 196 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 6:147,039,315...147,102,464
Ensembl chr 6:140,896,576...140,957,435 		JBrowse link
G Tmem209 transmembrane protein 209 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:60,070,346...60,096,039
Ensembl chr 4:59,101,550...59,128,630 		JBrowse link
G Tmem213 transmembrane protein 213 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:66,825,040...66,831,070 JBrowse link
G Tmem229a transmembrane protein 229A ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:53,440,287...53,445,286
Ensembl chr 4:53,443,831...53,444,940 		JBrowse link
G Tmem243 transmembrane protein 243 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:25,905,740...25,923,588
Ensembl chr 4:24,950,791...24,968,642 		JBrowse link
G Tmem248 transmembrane protein 248 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr12:26,430,775...26,457,105
Ensembl chr12:26,432,953...26,457,105 		JBrowse link
G Tmem270 transmembrane protein 270 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr12:27,430,092...27,435,243
Ensembl chr12:21,794,130...21,798,731 		JBrowse link
G Tmem60 transmembrane protein 60 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:14,210,029...14,214,884
Ensembl chr 4:14,210,029...14,215,063 		JBrowse link
G Tnpo3 transportin 3 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:59,108,278...59,197,012
Ensembl chr 4:58,143,001...58,220,433 		JBrowse link
G Tns3 tensin 3 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr14:87,387,441...87,619,457
Ensembl chr14:83,173,649...83,405,998 		JBrowse link
G Tomm7 translocase of outer mitochondrial membrane 7 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:12,197,503...12,204,344
Ensembl chr 4:11,305,110...11,311,962 		JBrowse link
G Tp53 tumor protein p53 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:1349175 PMID:1565143 PMID:1565144 PMID:1631137 PMID:8401536 More... NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,300,048...54,311,524 		JBrowse link
G Tpst1 tyrosylprotein sulfotransferase 1 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr12:32,180,688...32,247,478
Ensembl chr12:26,544,536...26,605,704 		JBrowse link
G Tra2a transformer 2 alpha ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:79,551,699...79,570,621
Ensembl chr 4:78,220,883...78,239,712 		JBrowse link
G Trappc14 trafficking protein particle complex subunit 14 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr12:22,376,361...22,380,706
Ensembl chr12:17,262,750...17,267,084 		JBrowse link
G Tril TLR4 interactor with leucine-rich repeats ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:84,252,781...84,257,626
Ensembl chr 4:82,922,328...82,927,172 		JBrowse link
G Trim24 tripartite motif-containing 24 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:67,534,240...67,659,014
Ensembl chr 4:66,566,686...66,717,241 		JBrowse link
G Trim50 tripartite motif-containing 50 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr12:26,937,349...26,954,286
Ensembl chr12:21,300,785...21,317,668 		JBrowse link
G Trim56 tripartite motif containing 56 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr12:25,193,224...25,204,032
Ensembl chr12:19,551,521...19,567,462 		JBrowse link
G Trip6 thyroid hormone receptor interactor 6 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr12:25,022,959...25,027,366
Ensembl chr12:19,386,014...19,390,618 		JBrowse link
G Trrap transformation/transcription domain-associated protein ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr12:14,851,758...14,941,444
Ensembl chr12:9,738,006...9,827,674 		JBrowse link
G Tsc1 TSC complex subunit 1 ISO mRNA:decreased expression:brain RGD PMID:16909113 RGD:11570509 NCBI chr 3:32,367,434...32,416,565
Ensembl chr 3:11,979,729...12,015,674 		JBrowse link
G Tsc22d4 TSC22 domain family, member 4 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr12:24,575,948...24,588,806
Ensembl chr12:18,914,398...18,952,008 		JBrowse link
G Tsga13 testis specific, 13 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:59,501,773...59,522,925
Ensembl chr 4:59,501,774...59,522,818 		JBrowse link
G Tspan12 tetraspanin 12 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:51,279,562...51,355,030
Ensembl chr 4:50,313,772...50,389,246 		JBrowse link
G Tspan13 tetraspanin 13 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 6:58,466,051...58,492,804
Ensembl chr 6:52,738,758...52,765,547 		JBrowse link
G Tspan33 tetraspanin 33 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:59,270,713...59,294,249
Ensembl chr 4:58,305,437...58,328,940 		JBrowse link
G Twist1 twist family bHLH transcription factor 1 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 6:56,402,309...56,404,303
Ensembl chr 6:50,674,678...50,677,653 		JBrowse link
G Tyw1 tRNA-yW synthesizing protein 1 homolog ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr12:31,968,198...32,054,454
Ensembl chr12:26,330,351...26,418,208 		JBrowse link
G Ube2d2b ubiquitin-conjugating enzyme E2D 2B ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr14:2,060,926...2,062,400
Ensembl chr14:1,916,845...1,917,416 		JBrowse link
G Ube2h ubiquitin-conjugating enzyme E2H ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:59,802,102...59,897,583
Ensembl chr 4:58,834,674...58,930,156 		JBrowse link
G Ubn2 ubinuclein 2 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:68,130,497...68,218,471
Ensembl chr 4:67,166,346...67,230,491 		JBrowse link
G Ufsp1 UFM1-specific peptidase 1 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr12:19,406,133...19,407,147
Ensembl chr12:19,406,142...19,407,195 		JBrowse link
G Upk3bl1 uroplakin 3B like 1 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr12:26,246,960...26,252,973
Ensembl chr12:20,610,353...20,616,366 		JBrowse link
G Upp1 uridine phosphorylase 1 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr14:88,023,155...88,043,036
Ensembl chr14:83,809,960...83,829,462 		JBrowse link
G Urgcp upregulator of cell proliferation ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr14:84,808,616...84,852,785
Ensembl chr14:80,594,633...80,619,888 		JBrowse link
G Vgf VGF nerve growth factor inducible ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr12:25,274,004...25,281,803
Ensembl chr12:19,637,320...19,640,341 		JBrowse link
G Vkorc1l1 vitamin K epoxide reductase complex, subunit 1-like 1 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr12:32,354,078...32,404,327
Ensembl chr12:26,623,976...26,768,225 		JBrowse link
G Vopp1 VOPP1 WW domain binding protein ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:87,363,678...87,432,747
Ensembl chr 4:87,363,477...87,450,375 		JBrowse link
G Vps37d VPS37D subunit of ESCRT-I ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr12:27,245,755...27,251,214
Ensembl chr12:21,609,182...21,614,659 		JBrowse link
G Vps41 VPS41 subunit of HOPS complex ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr17:50,758,732...50,923,129
Ensembl chr17:46,063,124...46,227,791 		JBrowse link
G Vps50 VPS50 subunit of EARP/GARPII complex ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:32,439,101...32,540,299
Ensembl chr 4:31,484,463...31,585,617 		JBrowse link
G Vstm2a V-set and transmembrane domain containing 2A ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr14:94,873,259...95,117,189
Ensembl chr14:90,660,004...90,685,656 		JBrowse link
G Vwc2 von Willebrand factor C domain containing 2 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr14:89,897,543...90,038,732
Ensembl chr14:85,684,414...85,818,524 		JBrowse link
G Vwde von Willebrand factor D and EGF domains ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:41,453,573...41,525,421
Ensembl chr 4:41,455,281...41,533,374 		JBrowse link
G Wasl WASP like actin nucleation promoting factor ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:54,049,081...54,097,653
Ensembl chr 4:53,083,536...53,132,022 		JBrowse link
G Wdr91 WD repeat domain 91 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:64,521,504...64,558,873
Ensembl chr 4:63,554,364...63,591,733 		JBrowse link
G Wipf3 WAS/WASL interacting protein family, member 3 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:84,880,403...84,960,250
Ensembl chr 4:83,550,468...83,629,386 		JBrowse link
G Wnt16 Wnt family member 16 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:51,786,728...51,797,137
Ensembl chr 4:50,820,968...50,831,380 		JBrowse link
G Wnt2 Wnt family member 2 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:47,294,300...47,340,284
Ensembl chr 4:46,333,998...46,374,402 		JBrowse link
G Yae1 YAE1 maturation factor of ABCE1 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr17:51,722,582...51,729,098
Ensembl chr17:47,027,019...47,033,546 		JBrowse link
G Ykt6 YKT6 v-SNARE homolog ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr14:85,041,393...85,057,347
Ensembl chr14:80,832,187...80,843,385 		JBrowse link
G Ywhag tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr12:26,381,106...26,409,466
Ensembl chr12:20,744,535...20,772,827 		JBrowse link
G Zan zonadhesin ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr12:24,851,798...24,963,837
Ensembl chr12:19,215,102...19,271,240 		JBrowse link
G Zc3hav1 zinc finger CCCH-type containing, antiviral 1 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:67,979,055...68,029,353
Ensembl chr 4:67,012,185...67,062,428 		JBrowse link
G Zc3hav1l ZC3HAV1 like ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:67,957,250...67,972,540
Ensembl chr 4:66,994,199...67,001,620 		JBrowse link
G Zc3hc1 zinc finger, C3HC-type containing 1 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:59,957,402...59,979,336
Ensembl chr 4:58,989,987...59,011,933 		JBrowse link
G Zcwpw1 zinc finger CW-type and PWWP domain containing 1 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr12:24,517,428...24,547,942
Ensembl chr12:18,880,633...18,910,711 		JBrowse link
G Zfp113 zinc finger protein 3 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr12:22,135,812...22,147,427
Ensembl chr12:17,022,279...17,033,709 		JBrowse link
G Zfp277 zinc finger protein 277 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 6:63,110,609...63,239,941
Ensembl chr 6:57,383,951...57,512,765 		JBrowse link
G Zfp394 zinc finger protein 394 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr12:14,522,820...14,530,998
Ensembl chr12:9,409,078...9,417,246 		JBrowse link
G Zfp655 zinc finger protein 655 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr12:14,466,006...14,489,049
Ensembl chr12:9,357,639...9,374,569 		JBrowse link
G Zfp800 zinc finger protein 800 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:56,798,326...56,849,766
Ensembl chr 4:56,826,997...56,849,791 		JBrowse link
G Zfp804b zinc finger protein 804B ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:26,608,510...27,144,717
Ensembl chr 4:26,609,744...27,141,673 		JBrowse link
G Zkscan1 zinc finger with KRAB and SCAN domains 1 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr12:22,080,319...22,101,389
Ensembl chr12:16,966,654...16,983,865 		JBrowse link
G Zkscan5 zinc finger with KRAB and SCAN domains 5 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr12:14,498,342...14,519,537
Ensembl chr12:9,384,571...9,405,881 		JBrowse link
G Zmiz2 zinc finger, MIZ-type containing 2 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr14:85,465,323...85,481,860
Ensembl chr14:81,251,417...81,267,936 		JBrowse link
G Znhit1 zinc finger, HIT-type containing 1 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr12:25,323,292...25,329,566
Ensembl chr12:19,686,148...19,692,880 		JBrowse link
G Znrf2 zinc and ring finger 2 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr 4:85,274,626...85,358,083
Ensembl chr 4:83,949,309...84,027,818 		JBrowse link
G Zp3 zona pellucida glycoprotein 3 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr12:26,327,161...26,334,126
Ensembl chr12:20,690,547...20,697,513 		JBrowse link
G Zpbp zona pellucida binding protein ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr14:90,047,207...90,244,727
Ensembl chr14:85,833,548...86,033,095 		JBrowse link
G Zscan21 zinc finger and SCAN domain containing 21 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr12:22,112,204...22,142,506
Ensembl chr12:16,998,538...17,013,506 		JBrowse link
G Zscan25 zinc finger and SCAN domain containing 25 ISO ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma ClinVar PMID:28299358 NCBI chr12:14,441,458...14,451,919
Ensembl chr12:9,326,404...9,338,221 		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 cerebellar degeneration term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acan aggrecan ISO RGD PMID:9192671 RGD:1300269 NCBI chr 1:142,390,951...142,453,779
Ensembl chr 1:132,981,582...133,043,627 		JBrowse link
G Col6a1 collagen type VI alpha 1 chain ISO ClinVar Annotator: match by term: Sensorimotor neuropathy ClinVar PMID:10419498 PMID:12840783 PMID:15955946 PMID:16199547 PMID:17886299 More... NCBI chr20:11,905,690...11,924,111
Ensembl chr20:11,905,957...11,924,597 		JBrowse link
G Dars2 aspartyl-tRNA synthetase 2 (mitochondrial) ISO ClinVar Annotator: match by term: Sensorimotor neuropathy ClinVar PMID:16199547 PMID:17384640 PMID:19592391 PMID:22843165 PMID:23065766 More... NCBI chr13:75,842,078...75,870,319
Ensembl chr13:73,308,726...73,336,934 		JBrowse link
G Dnm2 dynamin 2 ISO ClinVar Annotator: match by term: Sensorimotor neuropathy ClinVar PMID:17636067 PMID:25741868 PMID:28492532 PMID:30373780 PMID:35993408 NCBI chr 8:28,254,344...28,336,297
Ensembl chr 8:19,978,400...20,060,157 		JBrowse link
G Mpz myelin protein zero ISO ClinVar Annotator: match by term: Sensorimotor neuropathy ClinVar PMID:25741868 NCBI chr13:86,103,290...86,109,156
Ensembl chr13:83,570,811...83,576,679 		JBrowse link
G Nkx2-1 NK2 homeobox 1 ISO ClinVar Annotator: match by term: Hereditary ataxia ClinVar PMID:24453141 PMID:25741868 PMID:29109906 NCBI chr 6:79,731,677...79,735,952
Ensembl chr 6:73,996,601...73,999,791 		JBrowse link
G Prkcg protein kinase C, gamma ISO ClinVar Annotator: match by term: Hereditary ataxia ClinVar PMID:25741868 NCBI chr 1:74,748,272...74,777,611
Ensembl chr 1:65,832,855...65,859,384 		JBrowse link
G Sacs sacsin molecular chaperone ISO ClinVar Annotator: match by term: Hereditary ataxia ClinVar PMID:19892370 PMID:23250129 PMID:23280630 PMID:24033266 PMID:25741868 More... NCBI chr15:39,461,853...39,546,419
Ensembl chr15:35,285,782...35,370,335 		JBrowse link
G Sil1 SIL1 nucleotide exchange factor ISO CTD Direct Evidence: marker/mechanism OMIM
CTD		 NCBI chr18:27,146,526...27,378,459
Ensembl chr18:26,872,429...27,104,332 		JBrowse link
G Sptlc1 serine palmitoyltransferase, long chain base subunit 1 ISO ClinVar Annotator: match by term: Sensorimotor neuropathy ClinVar PMID:11242106 PMID:11242114 PMID:11479835 PMID:14152213 PMID:14990347 More... NCBI chr17:12,029,189...12,068,234
Ensembl chr17:11,877,249...11,916,295 		JBrowse link
primary coenzyme Q10 deficiency 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdc42bpa CDC42 binding protein kinase alpha ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 4 ClinVar PMID:24164873 NCBI chr13:94,215,359...94,435,681
Ensembl chr13:91,684,007...91,903,732 		JBrowse link
G Coq8a coenzyme Q8A ISO
ISS		 ClinVar Annotator: match by term: COQ8A-related condition | ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 4 | ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 9
OMIM:612016		 OMIM
ClinVar
MouseDO		 PMID:9536098 PMID:12682339 PMID:15326254 PMID:16199547 PMID:17576681 More... NCBI chr13:94,436,680...94,465,535
Ensembl chr13:91,904,739...91,931,431 		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
short-rib thoracic dysplasia 9 with or without polydactyly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca3 ATP binding cassette subfamily A member 3 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:13,886,948...13,944,286
Ensembl chr10:13,382,540...13,439,745 		JBrowse link
G Adcy9 adenylate cyclase 9 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:11,645,373...11,768,462
Ensembl chr10:11,139,446...11,262,066 		JBrowse link
G Amdhd2 amidohydrolase domain containing 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:13,692,136...13,700,632
Ensembl chr10:13,187,578...13,196,095 		JBrowse link
G Anks3 ankyrin repeat and sterile alpha motif domain containing 3 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:11,121,504...11,142,261
Ensembl chr10:10,615,047...10,635,806 		JBrowse link
G Antkmt adenine nucleotide translocase lysine methyltransferase ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr10:15,316,797...15,320,950
Ensembl chr10:14,812,269...14,814,193 		JBrowse link
G Arhgdig Rho GDP dissociation inhibitor gamma ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr10:15,723,525...15,725,719
Ensembl chr10:15,219,049...15,221,213 		JBrowse link
G Atp6v0c ATPase H+ transporting V0 subunit C ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:13,700,764...13,707,147
Ensembl chr10:13,196,204...13,201,500 		JBrowse link
G Axin1 axin 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr10:15,667,894...15,720,092
Ensembl chr10:15,163,684...15,215,615 		JBrowse link
G Baiap3 BAI1-associated protein 3 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr10:14,764,768...14,777,516
Ensembl chr10:14,260,269...14,273,019 		JBrowse link
G Bicdl2 BICD family like cargo adaptor 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:13,196,205...13,204,642
Ensembl chr10:12,691,610...12,700,049 		JBrowse link
G Bricd5 BRICHOS domain containing 5 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:14,003,276...14,004,809
Ensembl chr10:13,498,381...13,500,259 		JBrowse link
G C10h16orf90 similar to human chromosome 16 open reading frame 90 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:12,125,235...12,138,441
Ensembl chr10:11,618,348...11,629,910 		JBrowse link
G C10h16orf96 similar to human chromosome 16 open reading frame 96 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:11,213,789...11,257,180 JBrowse link
G Cacna1h calcium voltage-gated channel subunit alpha1 H ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr10:14,894,630...14,952,317
Ensembl chr10:14,390,113...14,448,376 		JBrowse link
G Capn15 calpain 15 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr10:15,477,311...15,503,913
Ensembl chr10:14,972,800...14,999,508 		JBrowse link
G Caskin1 CASK interacting protein 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:14,016,780...14,037,927
Ensembl chr10:13,513,465...13,533,377 		JBrowse link
G Ccdc154 coiled-coil domain containing 154 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr10:14,681,938...14,691,757
Ensembl chr10:14,177,278...14,187,253 		JBrowse link
G Ccdc78 coiled-coil domain containing 78 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr10:15,312,403...15,316,800
Ensembl chr10:14,807,710...14,812,282 		JBrowse link
G Ccnf cyclin F ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:13,757,884...13,783,669
Ensembl chr10:13,253,380...13,279,101 		JBrowse link
G Cdip1 cell death-inducing p53 target 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:11,278,213...11,303,415
Ensembl chr10:10,774,705...10,796,980 		JBrowse link
G Chtf18 chromosome transmission fidelity factor 18 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr10:15,247,525...15,255,573
Ensembl chr10:14,742,621...14,751,050 		JBrowse link
G Ciao3 cytosolic iron-sulfur assembly component 3 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr10:15,300,403...15,309,467
Ensembl chr10:14,795,961...14,804,950 		JBrowse link
G Clcn7 chloride voltage-gated channel 7 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr10:14,656,261...14,681,632
Ensembl chr10:14,151,758...14,177,130 		JBrowse link
G Cldn6 claudin 6 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:13,213,837...13,218,578
Ensembl chr10:12,709,960...12,715,973 		JBrowse link
G Cldn9 claudin 9 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:13,218,728...13,220,159 JBrowse link
G Cluap1 clusterin associated protein 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:12,094,346...12,159,440
Ensembl chr10:11,588,017...11,619,711 		JBrowse link
G Coro7 coronin 7 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:11,386,683...11,447,422
Ensembl chr10:10,885,196...10,941,001 		JBrowse link
G Cramp1 cramped chromatin regulator homolog 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:14,488,292...14,536,844
Ensembl chr10:13,983,866...14,032,392 		JBrowse link
G Crebbp CREB binding protein ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:11,842,307...11,968,266
Ensembl chr10:11,335,953...11,461,888 		JBrowse link
G Decr2 2,4-dienoyl-CoA reductase 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr10:15,609,389...15,617,779
Ensembl chr10:15,002,926...15,118,479 		JBrowse link
G Dnaaf8 dynein axonemal assembly factor 8 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:11,107,988...11,121,475
Ensembl chr10:10,600,734...10,614,891 		JBrowse link
G Dnaja3 DnaJ heat shock protein family (Hsp40) member A3 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:11,361,168...11,386,599
Ensembl chr10:10,854,732...10,880,161 		JBrowse link
G Dnase1 deoxyribonuclease 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:12,005,305...12,030,615
Ensembl chr10:11,498,931...11,501,869 		JBrowse link
G Dnase1l2 deoxyribonuclease 1 like 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:13,976,012...13,978,574
Ensembl chr10:13,471,479...13,473,763 		JBrowse link
G E4f1 E4F transcription factor 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:13,978,975...13,999,646
Ensembl chr10:13,474,456...13,485,974 		JBrowse link
G Eci1 enoyl-CoA delta isomerase 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:13,961,250...13,974,595
Ensembl chr10:13,456,563...13,470,061 		JBrowse link
G Elob elongin B ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:13,353,413...13,358,484
Ensembl chr10:12,848,827...12,853,635 		JBrowse link
G Eme2 essential meiotic structure-specific endonuclease subunit 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:14,413,661...14,420,489
Ensembl chr10:13,913,221...13,915,968 		JBrowse link
G Fahd1 fumarylacetoacetate hydrolase domain containing 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:14,378,058...14,379,497
Ensembl chr10:13,873,527...13,875,012 		JBrowse link
G Fam234a family with sequence similarity 234, member A ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr10:15,736,741...15,768,043
Ensembl chr10:15,232,278...15,263,488 		JBrowse link
G Fbxl16 F-box and leucine-rich repeat protein 16 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr10:15,333,996...15,346,253
Ensembl chr10:14,829,449...14,840,986 		JBrowse link
G Flywch1 FLYWCH-type zinc finger 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:13,279,232...13,298,955
Ensembl chr10:12,774,653...12,794,267 		JBrowse link
G Flywch2 FLYWCH family member 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:13,303,346...13,311,677
Ensembl chr10:12,798,762...12,806,439 		JBrowse link
G Gfer growth factor, augmenter of liver regeneration ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:14,223,023...14,225,736
Ensembl chr10:13,718,489...13,720,869 		JBrowse link
G Glis2 GLIS family zinc finger 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:11,457,594...11,484,948
Ensembl chr10:10,951,371...10,971,578 		JBrowse link
G Gng13 G protein subunit gamma 13 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr10:15,245,698...15,247,602
Ensembl chr10:14,741,239...14,743,083 		JBrowse link
G Gnptg N-acetylglucosamine-1-phosphate transferase subunit gamma ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr10:14,756,685...14,761,636
Ensembl chr10:14,251,136...14,257,096 		JBrowse link
G Hagh hydroxyacyl glutathione hydrolase ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:14,379,400...14,394,046
Ensembl chr10:13,875,241...13,889,504 		JBrowse link
G Haghl hydroxyacylglutathione hydrolase-like ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr10:15,309,469...15,313,910
Ensembl chr10:14,804,997...14,807,665 		JBrowse link
G Hcfc1r1 host cell factor C1 regulator 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:13,209,757...13,211,445
Ensembl chr10:12,705,077...12,706,850 		JBrowse link
G Hmox2 heme oxygenase 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:11,303,512...11,337,640
Ensembl chr10:10,797,055...10,831,148 		JBrowse link
G Hs3st6 heparan sulfate-glucosamine 3-sulfotransferase 6 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:14,286,555...14,292,660
Ensembl chr10:13,781,993...13,788,133 		JBrowse link
G Ift140 intraflagellar transport 140 ISO
ISS		 ClinVar Annotator: match by term: Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia | ClinVar Annotator: match by term: Saldino-Mainzer syndrome | ClinVar Annotator: match by term: Short-rib thoracic dysplasia without polydactyly
OMIM:266920		 OMIM
ClinVar
MouseDO		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19370764 PMID:20301784 More... NCBI chr10:14,537,134...14,624,926
Ensembl chr10:14,032,648...14,120,433 		JBrowse link
G Igfals insulin-like growth factor binding protein, acid labile subunit ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:14,397,076...14,408,439
Ensembl chr10:13,898,395...13,902,677 		JBrowse link
G Jmjd8 jumonji domain containing 8 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr10:15,353,460...15,356,392
Ensembl chr10:14,848,980...14,851,879 		JBrowse link
G Jpt2 Jupiter microtubule associated homolog 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:14,467,652...14,487,769
Ensembl chr10:13,963,137...13,983,170 		JBrowse link
G Kctd5 potassium channel tetramerization domain containing 5 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:13,583,781...13,609,762
Ensembl chr10:13,079,214...13,105,209 		JBrowse link
G Kremen2 kringle containing transmembrane protein 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:13,267,986...13,272,103
Ensembl chr10:12,763,397...12,767,854 		JBrowse link
G Lmf1 lipase maturation factor 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr10:15,094,432...15,188,665
Ensembl chr10:14,597,594...14,684,119 		JBrowse link
G Luc7l LUC7-like ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr10:15,777,837...15,811,586
Ensembl chr10:15,273,348...15,303,112 		JBrowse link
G Mapk8ip3 mitogen-activated protein kinase 8 interacting protein 3 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:14,422,936...14,463,387
Ensembl chr10:13,918,400...13,958,273 		JBrowse link
G Mcrip2 MAPK regulated co-repressor interacting protein 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr10:15,388,325...15,393,302
Ensembl chr10:14,883,813...14,894,021 		JBrowse link
G Mefv MEFV innate immunity regulator, pyrin ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:12,288,514...12,303,337
Ensembl chr10:11,787,422...11,796,973 		JBrowse link
G Meiob meiosis specific with OB-fold ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:14,336,869...14,369,566
Ensembl chr10:13,833,750...13,865,046 		JBrowse link
G Metrn meteorin, glial cell differentiation regulator ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr10:15,321,200...15,323,218
Ensembl chr10:14,816,572...14,818,701 		JBrowse link
G Mettl26 methyltransferase like 26 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr10:15,393,554...15,448,003
Ensembl chr10:14,894,581...14,905,851 		JBrowse link
G Mgrn1 mahogunin ring finger 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:11,142,626...11,194,773
Ensembl chr10:10,638,880...10,688,315 		JBrowse link
G Mlst8 MTOR associated protein, LST8 homolog ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:14,002,927...14,008,678
Ensembl chr10:13,498,388...13,504,128 		JBrowse link
G Mmp25 matrix metallopeptidase 25 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:13,164,974...13,180,503
Ensembl chr10:12,661,208...12,675,871 		JBrowse link
G Mrpl28 mitochondrial ribosomal protein L28 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr10:15,653,006...15,656,062
Ensembl chr10:15,148,681...15,151,581 		JBrowse link
G Mrps34 mitochondrial ribosomal protein S34 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:14,420,543...14,421,674
Ensembl chr10:13,916,026...13,918,406 		JBrowse link
G Msln mesothelin ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr10:15,276,489...15,285,921
Ensembl chr10:14,771,961...14,777,643 		JBrowse link
G Msrb1 methionine sulfoxide reductase B1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:14,269,414...14,275,140
Ensembl chr10:13,764,883...13,770,609 		JBrowse link
G Naa60 N(alpha)-acetyltransferase 60, NatF catalytic subunit ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:12,129,026...12,149,053
Ensembl chr10:11,587,916...11,642,755 		JBrowse link
G Ndufb10 NADH:ubiquinone oxidoreductase subunit B10 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:14,253,805...14,255,966
Ensembl chr10:13,749,275...13,751,442 		JBrowse link
G Nherf2 NHERF family PDZ scaffold protein 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:14,167,005...14,177,519
Ensembl chr10:13,662,461...13,673,049 		JBrowse link
G Nlrc3 NLR family, CARD domain containing 3 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:12,055,809...12,093,449
Ensembl chr10:11,551,356...11,584,398 		JBrowse link
G Nme3 NME/NM23 nucleoside diphosphate kinase 3 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:14,421,922...14,422,878
Ensembl chr10:13,917,403...13,918,359 		JBrowse link
G Nme4 NME/NM23 nucleoside diphosphate kinase 4 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr10:15,619,106...15,622,961
Ensembl chr10:15,002,926...15,118,479 		JBrowse link
G Nmral1 NmrA like redox sensor 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:11,348,080...11,356,621
Ensembl chr10:10,841,799...10,850,192 		JBrowse link
G Noxo1 NADPH oxidase organizer 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:14,226,473...14,230,541
Ensembl chr10:13,721,473...13,726,061 		JBrowse link
G Npw neuropeptide W ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:14,184,819...14,186,155
Ensembl chr10:13,680,321...13,681,586 		JBrowse link
G Nthl1 nth-like DNA glycosylase 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:14,160,334...14,166,502
Ensembl chr10:13,655,785...13,661,957 		JBrowse link
G Ntn3 netrin 3 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:13,741,459...13,744,555
Ensembl chr10:13,236,905...13,240,001 		JBrowse link
G Nubp2 NUBP iron-sulfur cluster assembly factor 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:14,407,743...14,411,428
Ensembl chr10:13,903,224...13,906,969 		JBrowse link
G Nudt16l1 nudix hydrolase 16 like 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:11,142,626...11,144,542
Ensembl chr10:10,636,174...10,688,370 		JBrowse link
G Or1f34 olfactory receptor family 1 subfamily F member 34 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:12,830,814...12,839,442
Ensembl chr10:12,333,860...12,334,801 		JBrowse link
G Or2c1 olfactory receptor family 2 subfamily C member 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:12,189,254...12,190,192
Ensembl chr10:11,681,001...11,692,105 		JBrowse link
G Pam16 presequence translocase associated motor 16 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:11,449,316...11,457,071
Ensembl chr10:10,943,001...10,950,649 		JBrowse link
G Paqr4 progestin and adipoQ receptor family member 4 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:13,263,559...13,267,237
Ensembl chr10:12,758,972...12,762,584 		JBrowse link
G Pdia2 protein disulfide isomerase family A, member 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr10:15,720,301...15,723,386
Ensembl chr10:15,215,824...15,220,931 		JBrowse link
G Pdpk1 3-phosphoinositide dependent protein kinase-1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:13,610,000...13,687,226
Ensembl chr10:13,105,498...13,174,623 		JBrowse link
G Pgap6 post-GPI attachment to proteins 6 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr10:15,643,081...15,652,912
Ensembl chr10:15,138,959...15,148,431 		JBrowse link
G Pgp phosphoglycolate phosphatase ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:13,999,782...14,002,408
Ensembl chr10:13,494,291...13,497,858 		JBrowse link
G Pigq phosphatidylinositol glycan anchor biosynthesis, class Q ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr10:15,447,080...15,463,088
Ensembl chr10:14,942,577...14,958,584 		JBrowse link
G Pkd1 polycystin 1, transient receptor potential channel interacting ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:14,077,733...14,125,682
Ensembl chr10:13,573,021...13,621,128 		JBrowse link
G Pkmyt1 protein kinase, membrane associated tyrosine/threonine 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:13,252,805...13,263,584
Ensembl chr10:12,748,237...12,758,995 		JBrowse link
G Prr35 proline rich 35 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr10:15,466,459...15,472,133
Ensembl chr10:14,962,162...14,964,152 		JBrowse link
G Prss21 serine protease 21 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:13,404,820...13,410,195
Ensembl chr10:12,900,535...12,905,618 		JBrowse link
G Prss22 serine protease 22 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:13,533,725...13,538,435
Ensembl chr10:13,029,153...13,033,863 		JBrowse link
G Prss27 serine protease 27 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:13,574,526...13,581,887
Ensembl chr10:13,069,959...13,077,322 		JBrowse link
G Prss33 serine protease 33 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:13,363,528...13,365,868
Ensembl chr10:12,858,941...12,861,281 		JBrowse link
G Prss41 serine protease 41 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:13,370,459...13,378,139
Ensembl chr10:12,865,872...12,873,552 		JBrowse link
G Ptx4 pentraxin 4 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr10:14,644,501...14,650,185
Ensembl chr10:14,140,304...14,144,846 		JBrowse link
G Rab11fip3 RAB11 family interacting protein 3 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr10:15,507,151...15,591,173
Ensembl chr10:15,002,926...15,118,479 		JBrowse link
G Rab26 RAB26, member RAS oncogene family ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:14,057,942...14,062,602
Ensembl chr10:13,553,395...13,558,030 		JBrowse link
G Rab40c Rab40c, member RAS oncogene family ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr10:15,405,436...15,440,659
Ensembl chr10:14,900,929...14,936,557 		JBrowse link
G Rgs11 regulator of G-protein signaling 11 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr10:15,727,279...15,735,536
Ensembl chr10:15,222,803...15,231,060 		JBrowse link
G Rhbdl1 rhomboid like 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr10:15,359,027...15,362,530
Ensembl chr10:14,854,514...14,857,430 		JBrowse link
G Rhot2 ras homolog family member T2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr10:15,363,467...15,369,263
Ensembl chr10:14,858,956...14,864,751 		JBrowse link
G Rnf151 ring finger protein 151 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:14,247,215...14,251,738
Ensembl chr10:13,742,682...13,745,000 		JBrowse link
G Rnps1 RNA binding protein with serine rich domain 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:13,950,151...13,960,396
Ensembl chr10:13,445,653...13,455,858 		JBrowse link
G Rogdi rogdi atypical leucine zipper ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:11,074,288...11,078,907
Ensembl chr10:10,567,834...10,572,452 		JBrowse link
G Rpl3l ribosomal protein L3-like ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:14,258,446...14,268,989
Ensembl chr10:13,753,886...13,764,457 		JBrowse link
G Rps2 ribosomal protein S2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:14,251,841...14,253,697
Ensembl chr10:13,747,301...13,749,163 		JBrowse link
G Rpusd1 RNA pseudouridine synthase domain containing 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr10:15,255,806...15,259,730
Ensembl chr10:14,751,384...14,755,207 		JBrowse link
G Septin12 septin 12 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:11,087,354...11,097,036
Ensembl chr10:10,581,008...10,590,581 		JBrowse link
G Slx4 SLX4 structure-specific endonuclease subunit ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:12,032,131...12,055,685
Ensembl chr10:11,528,424...11,549,295 		JBrowse link
G Smim22 small integral membrane protein 22 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:11,079,019...11,080,804 JBrowse link
G Sox8 SRY-box transcription factor 8 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr10:15,089,357...15,094,345
Ensembl chr10:14,584,829...14,589,818 		JBrowse link
G Spsb3 splA/ryanodine receptor domain and SOCS box containing 3 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:14,411,692...14,417,357
Ensembl chr10:13,907,253...13,912,841 		JBrowse link
G Srl sarcalumenin ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:11,540,365...11,584,506
Ensembl chr10:11,034,035...11,078,101 		JBrowse link
G Srrm2 serine/arginine repetitive matrix 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:13,320,059...13,353,337
Ensembl chr10:12,815,471...12,848,751 		JBrowse link
G Sstr5 somatostatin receptor 5 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr10:15,010,209...15,017,469
Ensembl chr10:14,506,868...14,512,946 		JBrowse link
G Stub1 STIP1 homology and U-box containing protein 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr10:15,355,278...15,357,559
Ensembl chr10:14,850,765...14,853,046 		JBrowse link
G Syngr3 synaptogyrin 3 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:14,215,088...14,219,844
Ensembl chr10:13,704,998...13,715,669 		JBrowse link
G Tbc1d24 TBC1 domain family, member 24 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:13,711,930...13,740,902
Ensembl chr10:13,209,895...13,236,050 		JBrowse link
G Tbl3 transducin (beta)-like 3 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:14,230,660...14,235,873
Ensembl chr10:13,726,129...13,731,372 		JBrowse link
G Tedc2 tubulin epsilon and delta complex 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:13,750,586...13,755,775
Ensembl chr10:13,246,037...13,251,124 		JBrowse link
G Telo2 telomere maintenance 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr10:14,624,998...14,640,235
Ensembl chr10:14,120,818...14,135,698 		JBrowse link
G Tfap4 transcription factor AP-4 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:11,507,242...11,525,794
Ensembl chr10:11,002,911...11,019,386 		JBrowse link
G Thoc6 THO complex subunit 6 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:13,204,643...13,210,004
Ensembl chr10:12,700,051...12,706,925 		JBrowse link
G Tmem204 transmembrane protein 204 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr10:14,581,025...14,608,878
Ensembl chr10:14,076,519...14,101,920 		JBrowse link
G Tnfrsf12a TNF receptor superfamily member 12A ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:13,211,670...13,213,666
Ensembl chr10:12,689,890...12,709,045 		JBrowse link
G Tpsab1 tryptase alpha/beta 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr10:14,864,887...14,867,302
Ensembl chr10:14,360,396...14,362,811 		JBrowse link
G Tpsb2 tryptase beta 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr10:14,886,310...14,888,102
Ensembl chr10:14,382,013...14,383,569 		JBrowse link
G Tpsg1 tryptase gamma 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr10:14,889,838...14,895,605
Ensembl chr10:14,386,352...14,390,258 		JBrowse link
G Traf7 TNF receptor associated factor 7 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:14,038,117...14,056,832
Ensembl chr10:13,533,570...13,552,203 		JBrowse link
G Trap1 TNF receptor-associated protein 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:11,971,259...12,005,306
Ensembl chr10:11,464,821...11,498,981 		JBrowse link
G Tsc2 TSC complex subunit 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:14,125,679...14,160,317
Ensembl chr10:13,621,136...13,655,951 		JBrowse link
G Tsr3 TSR3 ribosome maturation factor ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr10:14,761,656...14,764,061
Ensembl chr10:14,257,171...14,259,561 		JBrowse link
G Ubald1 UBA-like domain containing 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:11,202,197...11,206,962
Ensembl chr10:10,695,717...10,700,518 		JBrowse link
G Ube2i ubiquitin-conjugating enzyme E2I ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr10:14,782,245...14,802,911
Ensembl chr10:69,701,618...69,702,443
Ensembl chr10:69,701,618...69,702,443 		JBrowse link
G Unkl unk like zinc finger ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr10:14,710,627...14,756,725
Ensembl chr10:14,206,189...14,252,225 		JBrowse link
G Uqcc4 ubiquinol-cytochrome c reductase complex assembly factor 4 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr10:14,706,720...14,708,022
Ensembl chr10:14,202,243...14,204,029 		JBrowse link
G Vasn vasorin ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:11,424,174...11,434,681
Ensembl chr10:10,917,605...10,928,357 		JBrowse link
G Wdr19 WD repeat domain 19 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:25741868 PMID:33002628 PMID:33532864 NCBI chr14:43,396,130...43,460,012
Ensembl chr14:43,042,478...43,106,288 		JBrowse link
G Wdr24 WD repeat domain 24 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr10:15,346,835...15,353,384
Ensembl chr10:14,843,728...14,848,864 		JBrowse link
G Wdr90 WD repeat domain 90 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr10:15,369,184...15,385,797
Ensembl chr10:14,864,670...14,881,292 		JBrowse link
G Wfikkn1 WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr10:15,400,953...15,403,280
Ensembl chr10:14,896,378...14,899,863 		JBrowse link
G Zfp13 zinc finger protein 13 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:13,119,707...13,128,284
Ensembl chr10:12,615,190...12,623,615 		JBrowse link
G Zfp174 zinc finger protein 174 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:12,169,012...12,182,775
Ensembl chr10:11,669,913...11,676,312 		JBrowse link
G Zfp213 zinc finger protein 213 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:13,096,995...13,103,918
Ensembl chr10:12,592,368...12,599,281 		JBrowse link
G Zfp263 zinc finger protein 263 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:12,270,785...12,280,982
Ensembl chr10:11,764,427...11,771,235 		JBrowse link
G Zfp597 zinc finger protein 597 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:12,159,533...12,165,207
Ensembl chr10:11,653,127...11,660,675 		JBrowse link
G Zfp598 zinc finger protein 598 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:14,198,763...14,210,773
Ensembl chr10:13,694,286...13,706,233 		JBrowse link
G Zg16b zymogen granule protein 16B ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:13,484,327...13,488,745
Ensembl chr10:12,979,020...12,983,572 		JBrowse link
G Zscan10 zinc finger and SCAN domain containing 10 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:13,140,929...13,150,897
Ensembl chr10:12,636,302...12,646,275 		JBrowse link
spastic ataxia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Afg3l2 AFG3 like matrix AAA peptidase subunit 2 onset ISO DNA:missense mutation:exon:p.Y616C (c.1847G>A) (human)
ClinVar Annotator: match by term: Spastic ataxia		 ClinVar
RGD		 PMID:25741868 PMID:22022284 RGD:11532672 NCBI chr18:63,224,163...63,269,000
Ensembl chr18:60,954,268...60,999,110 		JBrowse link
G Ahdc1 AT hook, DNA binding motif, containing 1 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:150,512,182...150,578,804
Ensembl chr 5:145,228,227...145,294,145 		JBrowse link
G Amacr alpha-methylacyl-CoA racemase ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr 2:61,673,291...61,685,381
Ensembl chr 2:59,946,153...59,958,255 		JBrowse link
G Ampd2 adenosine monophosphate deaminase 2 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr 2:198,395,767...198,408,514
Ensembl chr 2:195,707,610...195,720,271 		JBrowse link
G Apob apolipoprotein B ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:28492532 PMID:34445196 NCBI chr 6:36,563,704...36,603,300
Ensembl chr 6:30,844,368...30,892,497 		JBrowse link
G Arsa arylsulfatase A ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:1671769 PMID:7866401 PMID:10477432 PMID:12809637 PMID:16678723 More... NCBI chr 7:122,422,971...122,426,971
Ensembl chr 7:120,543,362...120,548,783 		JBrowse link
G Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr13:87,261,964...87,286,911
Ensembl chr13:84,729,601...84,754,544 		JBrowse link
G Atp2b3 ATPase plasma membrane Ca2+ transporting 3 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr  X:156,367,582...156,464,085
Ensembl chr  X:151,216,507...151,286,775 		JBrowse link
G Atp7b ATPase copper transporting beta ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:7626145 PMID:10441329 PMID:10544227 PMID:16283883 PMID:17317524 More... NCBI chr16:76,654,725...76,726,092
Ensembl chr16:69,951,778...70,023,636 		JBrowse link
G C1h19orf12 similar to human chromosome 19 open reading frame 12 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr 1:100,010,280...100,023,907
Ensembl chr 1:90,873,549...90,886,208 		JBrowse link
G Cacna1a calcium voltage-gated channel subunit alpha1 A ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:26467025 NCBI chr19:40,425,560...40,724,810
Ensembl chr19:23,520,741...23,823,225 		JBrowse link
G Cacna1g calcium voltage-gated channel subunit alpha1 G ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr10:79,851,886...79,919,926
Ensembl chr10:79,355,008...79,422,752 		JBrowse link
G Cacnb4 calcium voltage-gated channel auxiliary subunit beta 4 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr 3:57,315,900...57,578,271
Ensembl chr 3:36,910,427...37,168,944 		JBrowse link
G Ccdc88c coiled-coil domain containing 88C ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr 6:125,899,337...126,019,162
Ensembl chr 6:120,169,738...120,289,555 		JBrowse link
G Cep290 centrosomal protein 290 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:16909394 PMID:17345604 PMID:17564974 PMID:20690115 PMID:21602930 More... NCBI chr 7:37,196,765...37,285,955
Ensembl chr 7:35,310,199...35,399,392 		JBrowse link
G Cln6 CLN6, transmembrane ER protein ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr 8:72,198,773...72,213,777
Ensembl chr 8:63,303,029...63,318,360 		JBrowse link
G Coq4 coenzyme Q4 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25658047 PMID:25741868 PMID:26185144 PMID:28492532 PMID:31967322 More... NCBI chr 3:33,457,834...33,468,387
Ensembl chr 3:13,060,455...13,068,799 		JBrowse link
G Cyp7b1 cytochrome P450 family 7 subfamily B member 1 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr 2:102,419,011...102,586,047
Ensembl chr 2:100,502,791...100,669,698 		JBrowse link
G Dab1 DAB adaptor protein 1 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr 5:123,621,510...124,742,585
Ensembl chr 5:119,140,533...119,510,552 		JBrowse link
G Dars2 aspartyl-tRNA synthetase 2 (mitochondrial) ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr13:75,842,078...75,870,319
Ensembl chr13:73,308,726...73,336,934 		JBrowse link
G Dnmt1 DNA methyltransferase 1 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr 8:27,716,797...27,763,405
Ensembl chr 8:19,440,611...19,486,659 		JBrowse link
G Elovl4 ELOVL fatty acid elongase 4 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr 8:93,582,930...93,609,479
Ensembl chr 8:84,702,362...84,729,697 		JBrowse link
G Ercc4 ERCC excision repair 4, endonuclease catalytic subunit ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:9580660 PMID:23623389 PMID:25741868 PMID:28492532 NCBI chr10:2,926,085...2,958,176
Ensembl chr10:2,419,038...2,448,369
Ensembl chr10:2,419,038...2,448,369 		JBrowse link
G Exosc8 exosome component 8 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr 2:141,080,568...141,087,112
Ensembl chr 2:138,930,405...138,936,928 		JBrowse link
G Fa2h fatty acid 2-hydroxylase ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:28492532 PMID:34445196 NCBI chr19:56,222,240...56,273,480
Ensembl chr19:39,312,906...39,364,153 		JBrowse link
G Fat2 FAT atypical cadherin 2 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:28492532 NCBI chr10:39,864,765...39,957,027
Ensembl chr10:39,364,073...39,456,216 		JBrowse link
G Flnc filamin C ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr 4:58,999,445...59,027,240
Ensembl chr 4:58,034,189...58,061,844 		JBrowse link
G Galc galactosylceramidase ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:26795590 PMID:27638593 PMID:28492532 PMID:30777126 More... NCBI chr 6:123,182,636...123,252,024
Ensembl chr 6:117,452,895...117,515,830 		JBrowse link
G Gjc2 gap junction protein, gamma 2 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:22833003 PMID:25059390 PMID:25741868 PMID:28492532 PMID:33190326 More... NCBI chr10:44,462,203...44,470,924
Ensembl chr10:43,962,642...43,970,467 		JBrowse link
G Glb1 galactosidase, beta 1 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:8922281 PMID:10841810 PMID:15714521 PMID:18524657 PMID:21497194 More... NCBI chr 8:122,963,718...123,036,326
Ensembl chr 8:114,085,508...114,158,127 		JBrowse link
G Hars1 histidyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:28492532 PMID:32333447 PMID:34445196 NCBI chr18:28,655,669...28,672,712
Ensembl chr18:28,381,655...28,398,740 		JBrowse link
G Hpdl 4-hydroxyphenylpyruvate dioxygenase-like ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:32707086 PMID:33188300 PMID:33970200 NCBI chr 5:135,523,258...135,524,864
Ensembl chr 5:130,286,631...130,288,233 		JBrowse link
G Itpr1 inositol 1,4,5-trisphosphate receptor, type 1 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:34445196 NCBI chr 4:142,743,401...143,066,505
Ensembl chr 4:141,187,418...141,510,491 		JBrowse link
G Kcnma1 potassium calcium-activated channel subfamily M alpha 1 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr15:351,065...1,057,117
Ensembl chr15:302,214...1,001,198 		JBrowse link
G Kif1a kinesin family member 1A ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:101,010,447...101,094,891
Ensembl chr 9:93,563,045...93,647,480 		JBrowse link
G Kif1c kinesin family member 1C ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar NCBI chr10:55,913,010...55,942,220
Ensembl chr10:55,415,900...55,443,545 		JBrowse link
G Lyst lysosomal trafficking regulator ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:28492532 NCBI chr17:93,225,509...93,427,650
Ensembl chr17:86,241,384...86,443,480 		JBrowse link
G Mks1 MKS transition zone complex subunit 1 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:28492532 NCBI chr10:73,152,599...73,167,451
Ensembl chr10:72,655,921...72,666,655 		JBrowse link
G Mtpap mitochondrial poly(A) polymerase ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr17:58,015,979...58,036,735
Ensembl chr17:53,320,741...53,341,538 		JBrowse link
G Naglu N-acetyl-alpha-glucosaminidase ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr10:86,501,864...86,509,333
Ensembl chr10:86,001,566...86,008,972 		JBrowse link
G Pex10 peroxisomal biogenesis factor 10 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:9683594 PMID:10862081 PMID:21031596 PMID:25741868 PMID:28492532 NCBI chr 5:170,910,136...170,915,302
Ensembl chr 5:165,627,799...165,632,965 		JBrowse link
G Pik3r5 phosphoinositide-3-kinase, regulatory subunit 5 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr10:53,631,469...53,699,550
Ensembl chr10:53,132,603...53,199,374 		JBrowse link
G Pla2g6 phospholipase A2 group VI ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 NCBI chr 7:112,731,803...112,771,978
Ensembl chr 7:110,851,378...110,891,114 		JBrowse link
G Pnpla6 patatin-like phospholipase domain containing 6 ISO ClinVar Annotator: match by term: Spastic ataxia 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 Polr3a RNA polymerase III subunit A ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:21855841 PMID:22855961 PMID:25741868 PMID:27029625 PMID:28447407 More... NCBI chr16:56,066...95,060
Ensembl chr16:49,521...88,172 		JBrowse link
G Ppt1 palmitoyl-protein thioesterase 1 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:12382155 PMID:16759889 PMID:19302939 PMID:21990111 PMID:23374165 More... NCBI chr 5:140,406,318...140,427,201
Ensembl chr 5:135,121,163...135,142,048 		JBrowse link
G Pum1 pumilio RNA-binding family member 1 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr 5:148,120,712...148,238,468
Ensembl chr 5:142,837,127...142,954,039 		JBrowse link
G Sacs sacsin molecular chaperone ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr15:39,461,853...39,546,419
Ensembl chr15:35,285,782...35,370,335 		JBrowse link
G Scn2a sodium voltage-gated channel alpha subunit 2 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:70,710,862...70,845,569
Ensembl chr 3:50,302,877...50,437,214 		JBrowse link
G Scn8a sodium voltage-gated channel alpha subunit 8 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:133,860,901...134,034,809
Ensembl chr 7:131,982,480...132,151,292 		JBrowse link
G Sepsecs Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:28492532 PMID:34445196 NCBI chr14:62,524,287...62,554,529
Ensembl chr14:58,311,499...58,341,740 		JBrowse link
G Setx senataxin ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:28708278 NCBI chr 3:32,825,771...32,878,740
Ensembl chr 3:12,427,635...12,480,803 		JBrowse link
G Slc1a3 solute carrier family 1 member 3 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 2:59,482,707...59,557,808
Ensembl chr 2:57,755,497...57,830,605 		JBrowse link
G Slc25a46 solute carrier family 25, member 46 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:28492532 PMID:31847883 PMID:34445196 NCBI chr18:23,490,422...23,519,599
Ensembl chr18:23,215,962...23,244,314 		JBrowse link
G Spast spastin ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:16055926 PMID:16240363 PMID:25741868 PMID:28492532 PMID:28572275 More... NCBI chr 6:26,807,220...26,858,456
Ensembl chr 6:21,055,349...21,107,954 		JBrowse link
G Spg11 SPG11 vesicle trafficking associated, spatacsin ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:28492532 PMID:32483926 PMID:34445196 NCBI chr 3:129,453,118...129,526,469
Ensembl chr 3:109,008,135...109,072,911 		JBrowse link
G Sptan1 spectrin, alpha, non-erythrocytic 1 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr 3:33,639,020...33,703,890
Ensembl chr 3:13,241,217...13,306,046 		JBrowse link
G Stxbp1 syntaxin binding protein 1 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:18414213 PMID:24781210 PMID:25356970 PMID:25741868 PMID:26795593 More... NCBI chr 3:36,474,428...36,536,120
Ensembl chr 3:16,076,391...16,138,369 		JBrowse link
G Syne1 spectrin repeat containing nuclear envelope protein 1 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:19542096 PMID:24319099 PMID:25741868 PMID:26467025 PMID:27086870 More... NCBI chr 1:43,917,640...44,388,802
Ensembl chr 1:41,512,030...41,983,322 		JBrowse link
G Syne2 spectrin repeat containing nuclear envelope protein 2 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:100,272,729...100,586,364
Ensembl chr 6:94,537,088...94,848,064 		JBrowse link
G Tmem67 transmembrane protein 67 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr 5:30,333,793...30,386,702
Ensembl chr 5:25,536,458...25,589,334 		JBrowse link
G Ttbk2 tau tubulin kinase 2 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:128,144,851...128,256,630
Ensembl chr 3:107,697,340...107,803,223 		JBrowse link
G Tubb3 tubulin, beta 3 class III ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr19:68,365,687...68,374,741
Ensembl chr19:51,457,184...51,466,243 		JBrowse link
G Wfs1 wolframin ER transmembrane glycoprotein ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:12955714 PMID:15605410 PMID:16353398 PMID:17603484 PMID:18060660 More... NCBI chr14:78,035,205...78,059,718
Ensembl chr14:73,810,404...73,835,602 		JBrowse link
spastic ataxia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tapbpl TAP binding protein-like ISO ClinVar Annotator: match by term: Ataxia, spastic, 1, autosomal dominant | ClinVar Annotator: match by term: Spastic ataxia 1 ClinVar PMID:11774073 PMID:22958904 PMID:25741868 PMID:26467025 PMID:28168212 More... NCBI chr 4:159,707,686...159,715,137 JBrowse link
G Vamp1 vesicle-associated membrane protein 1 ISO ClinVar Annotator: match by term: Ataxia, spastic, 1, autosomal dominant | ClinVar Annotator: match by term: Spastic ataxia 1
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:11774073 PMID:22958904 PMID:25741868 PMID:26467025 PMID:28168212 More... NCBI chr 4:159,698,894...159,705,582
Ensembl chr 4:158,012,663...158,019,349 		JBrowse link
Spastic Ataxia 10, Autosomal Recessive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Coq4 coenzyme Q4 ISO ClinVar Annotator: match by term: Spastic ataxia 10, autosomal recessive OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25658047 PMID:25741868 PMID:26185144 More... NCBI chr 3:33,457,834...33,468,387
Ensembl chr 3:13,060,455...13,068,799 		JBrowse link
G Trub2 TruB pseudouridine synthase family member 2 ISO ClinVar Annotator: match by term: Spastic ataxia 10, autosomal recessive ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:36047608 NCBI chr 3:33,447,101...33,457,712
Ensembl chr 3:13,033,745...13,059,930 		JBrowse link
spastic ataxia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C10h17orf107 similar to human chromosome 17 open reading frame 107 ISO ClinVar Annotator: match by term: Spastic ataxia 2 ClinVar PMID:28492532 NCBI chr10:55,830,684...55,831,827
Ensembl chr10:55,332,244...55,333,196 		JBrowse link
G Camta2 calmodulin binding transcription activator 2 ISO ClinVar Annotator: match by term: Spastic ataxia 2 ClinVar PMID:28492532 NCBI chr10:55,882,071...55,900,575
Ensembl chr10:55,383,450...55,401,558 		JBrowse link
G Chrne cholinergic receptor nicotinic epsilon subunit ISO ClinVar Annotator: match by term: Spastic ataxia 2 ClinVar PMID:28492532 NCBI chr10:55,829,835...55,838,853
Ensembl chr10:55,331,212...55,335,530 		JBrowse link
G Eno3 enolase 3 ISO ClinVar Annotator: match by term: Spastic ataxia 2 ClinVar PMID:28492532 NCBI chr10:55,868,880...55,876,099
Ensembl chr10:55,366,975...55,375,921 		JBrowse link
G Gp1ba glycoprotein Ib platelet subunit alpha ISO ClinVar Annotator: match by term: Spastic ataxia 2 ClinVar PMID:28492532 NCBI chr10:55,831,901...55,856,729
Ensembl chr10:55,352,899...55,356,774 		JBrowse link
G Inca1 inhibitor of CDK, cyclin A1 interacting protein 1 ISO ClinVar Annotator: match by term: Spastic ataxia 2 ClinVar PMID:28492532 NCBI chr10:55,900,610...55,912,975
Ensembl chr10:55,401,982...55,414,114 		JBrowse link
G Kif1c kinesin family member 1C ISO ClinVar Annotator: match by term: Spastic ataxia 2
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:16199547 PMID:17273843 PMID:17576681 PMID:24319291 More... NCBI chr10:55,913,010...55,942,220
Ensembl chr10:55,415,900...55,443,545 		JBrowse link
G Pfn1 profilin 1 ISO ClinVar Annotator: match by term: Spastic ataxia 2 ClinVar PMID:28492532 NCBI chr10:55,863,882...55,866,587
Ensembl chr10:55,365,262...55,527,631 		JBrowse link
G Rnf167 ring finger protein 167 ISO ClinVar Annotator: match by term: Spastic ataxia 2 ClinVar PMID:28492532 NCBI chr10:55,859,254...55,863,546
Ensembl chr10:55,360,543...55,364,927 		JBrowse link
G Slc25a11 solute carrier family 25 member 11 ISO ClinVar Annotator: match by term: Spastic ataxia 2 ClinVar PMID:28492532 NCBI chr10:55,856,209...55,859,060
Ensembl chr10:55,357,597...55,360,410 		JBrowse link
G Spag7 sperm associated antigen 7 ISO ClinVar Annotator: match by term: Spastic ataxia 2 ClinVar PMID:28492532 NCBI chr10:55,875,868...55,882,025
Ensembl chr10:55,377,249...55,383,404 		JBrowse link
spastic ataxia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mars2 methionyl-tRNA synthetase 2, mitochondrial ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Spastic ataxia 3		 OMIM
CTD
ClinVar		 PMID:22448145 PMID:25741868 PMID:28492532 NCBI chr 9:64,214,935...64,228,408
Ensembl chr 9:56,720,983...56,723,820 		JBrowse link
G Sacs sacsin molecular chaperone ISO ClinVar Annotator: match by term: Autosomal recessive spastic ataxia ClinVar PMID:20876471 PMID:21450511 PMID:21507954 PMID:24033266 PMID:24180463 More... NCBI chr15:39,461,853...39,546,419
Ensembl chr15:35,285,782...35,370,335 		JBrowse link
spastic ataxia 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mtpap mitochondrial poly(A) polymerase ISO ClinVar Annotator: match by term: MTPAP-related condition | ClinVar Annotator: match by term: Spastic ataxia 4 OMIM
ClinVar		 PMID:20970105 PMID:24651433 PMID:25008111 PMID:25741868 PMID:26319014 More... NCBI chr17:58,015,979...58,036,735
Ensembl chr17:53,320,741...53,341,538 		JBrowse link
spastic ataxia 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Afg3l2 AFG3 like matrix AAA peptidase subunit 2 ISO ClinVar Annotator: match by term: Spastic ataxia 5 OMIM
ClinVar		 PMID:22022284 PMID:24272953 PMID:25401298 PMID:25741868 PMID:26454370 More... NCBI chr18:63,224,163...63,269,000
Ensembl chr18:60,954,268...60,999,110 		JBrowse link
G Tubb6 tubulin, beta 6 class V ISO ClinVar Annotator: match by term: Spastic ataxia 5 ClinVar PMID:25741868 PMID:26467025 PMID:27165006 PMID:28492532 NCBI chr18:63,213,287...63,222,926
Ensembl chr18:60,943,375...60,954,418 		JBrowse link
spastic ataxia 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nkx6-2 NK6 homeobox 2 ISO ClinVar Annotator: match by term: Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:28575651 PMID:28969374 PMID:29388673 More... NCBI chr 1:203,811,582...203,813,122
Ensembl chr 1:194,381,975...194,383,515 		JBrowse link
Spastic Ataxia 9, Autosomal Recessive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chp1 calcineurin-like EF-hand protein 1 ISO OMIM NCBI chr 3:126,989,800...127,025,071
Ensembl chr 3:106,536,004...106,571,251 		JBrowse link
Spinal Cord Compression term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamts13 ADAM metallopeptidase with thrombospondin type 1 motif, 13 IEP mRNA, protein:increased expression, increased activity:spinal cord (rat) RGD PMID:22425718 RGD:10449098 NCBI chr 3:30,697,354...30,736,539
Ensembl chr 3:10,300,028...10,346,687 		JBrowse link
G Amigo3 adhesion molecule with Ig like domain 3 IEP mRNA, protein:increased expression:dorsal root ganglion (rat) RGD PMID:23613963 RGD:14390159 NCBI chr 8:117,620,499...117,622,025
Ensembl chr 8:108,693,060...108,744,555 		JBrowse link
G Ccl2 C-C motif chemokine ligand 2 IEP
ISO		 mRNA, protein:increased expression:liver, serum (rat)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:15135227 PMID:15855648 RGD:11526154 NCBI chr10:67,503,077...67,504,875
Ensembl chr10:67,005,424...67,007,226 		JBrowse link
G Cd163 CD163 molecule disease_progression IEP protein:increased expression:gray matter of spinal cord, white matter of spinal cord (rat) RGD PMID:23775900 RGD:149735576 NCBI chr 4:158,770,751...158,804,146
Ensembl chr 4:157,085,093...157,117,878 		JBrowse link
G Chst14 carbohydrate sulfotransferase 14 exacerbates ISO RGD PMID:26586562 RGD:155663489 NCBI chr 3:126,370,348...126,372,405
Ensembl chr 3:105,916,466...105,918,548 		JBrowse link
G Egr1 early growth response 1 IEP protein:increased expression:spinal cord dorsal horn (rat) RGD PMID:20675054 RGD:5131876 NCBI chr18:26,737,078...26,740,877
Ensembl chr18:26,462,981...26,466,766 		JBrowse link
G Elane elastase, neutrophil expressed treatment IMP RGD PMID:9675307 RGD:10450552 NCBI chr 7:10,467,877...10,469,725
Ensembl chr 7:9,817,252...9,819,100 		JBrowse link
G Epo erythropoietin IEP protein:increased expression:neuron, endothelium, glia: RGD PMID:15792521 RGD:11041719 NCBI chr12:24,841,285...24,844,725
Ensembl chr12:19,204,508...19,207,946 		JBrowse link
G Epor erythropoietin receptor IEP protein:increased expression:neuron, endothelium, glia: RGD PMID:15792521 RGD:11041719 NCBI chr 8:28,765,738...28,770,371
Ensembl chr 8:20,489,678...20,494,257 		JBrowse link
G Fas Fas cell surface death receptor treatment ISO human protein in a rat model
protein:increased expression:spinal cord:		 RGD PMID:16689665 PMID:21490053 PMID:16202410 RGD:1582444, RGD:12904017, RGD:8663485 NCBI chr 1:241,212,155...241,245,774
Ensembl chr 1:231,798,960...231,832,591 		JBrowse link
G Faslg Fas ligand treatment ISO protein:increased expression:spinal cord: RGD PMID:21490053 PMID:21490053 RGD:12904017, RGD:12904017 NCBI chr13:76,680,885...76,706,042
Ensembl chr13:74,154,954...74,162,215 		JBrowse link
G Fgf2 fibroblast growth factor 2 IEP protein:increased expression:spinal cord RGD PMID:17244329 RGD:8655633 NCBI chr 2:122,164,454...122,218,796
Ensembl chr 2:120,236,328...120,291,221 		JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 IEP protein:increased expression:spinal cord (rat) RGD PMID:28981091 RGD:155782905 NCBI chr 1:194,175,703...194,280,914
Ensembl chr 1:184,745,420...184,850,626 		JBrowse link
G Fis1 fission, mitochondrial 1 treatment IEP RGD PMID:25595990 RGD:12437079 NCBI chr12:25,345,239...25,360,135
Ensembl chr12:19,708,558...19,723,377 		JBrowse link
G Hmgcs1 3-hydroxy-3-methylglutaryl-CoA synthase 1 IEP protein:decreased expression:spinal cord, thoracic vertebrae (rat) RGD PMID:20399821 RGD:2326108 NCBI chr 2:53,379,457...53,399,807
Ensembl chr 2:51,649,497...51,667,100 		JBrowse link
G Hspa4 heat shock protein family A (Hsp70) member 4 ISO protein:increased expression:spinal cord (mouse) RGD PMID:21787762 RGD:6218959 NCBI chr10:37,908,866...37,951,994
Ensembl chr10:37,408,025...37,449,001 		JBrowse link
G Il6 interleukin 6 IEP protein:increased expression:cerebrospinal fluid, serum RGD PMID:30327453 RGD:14975119 NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,213,394...5,219,178 		JBrowse link
G Itgam integrin subunit alpha M treatment IEP RGD PMID:19457130 RGD:329902059 NCBI chr 1:192,089,496...192,139,947
Ensembl chr 1:182,659,000...182,709,503 		JBrowse link
G L1cam L1 cell adhesion molecule ISO RGD PMID:21671795 RGD:6483029 NCBI chr  X:156,748,597...156,775,116
Ensembl chr  X:151,597,277...151,623,857 		JBrowse link
G Mir17 microRNA 17 treatment IMP RGD PMID:31115018 RGD:329403058 NCBI chr15:98,587,848...98,587,931
Ensembl chr15:92,180,629...92,180,712 		JBrowse link
G Mt2 metallothionein 2 ISO mRNA:increased expression:spinal cord (mouse) RGD PMID:15592854 RGD:6483848 NCBI chr19:10,837,934...10,838,708
Ensembl chr19:10,832,002...10,832,784 		JBrowse link
G Nos3 nitric oxide synthase 3 treatment IEP RGD PMID:29323048 RGD:13504709 NCBI chr 4:11,686,088...11,706,604
Ensembl chr 4:10,793,834...10,814,166 		JBrowse link
G Plat plasminogen activator, tissue type ISO CTD Direct Evidence: marker/mechanism CTD PMID:12227717 NCBI chr16:75,943,061...76,022,037
Ensembl chr16:69,240,585...69,268,223 		JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:15135227 NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,622,011...3,624,629 		JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A IEP protein:increased expression:spinal cord (rat) RGD PMID:21224756 RGD:5130917 NCBI chr 4:159,837,119...159,849,817
Ensembl chr 4:158,150,820...158,163,591 		JBrowse link
G Tnfrsf1b TNF receptor superfamily member 1B IEP
ISO		 protein:increased expression:spinal cord (rat)
human protein in rat model		 RGD PMID:21224756 PMID:21224756 RGD:5130917, RGD:5130917 NCBI chr 5:162,356,250...162,387,411
Ensembl chr 5:157,070,642...157,104,206 		JBrowse link
Spinal Cord Injuries term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc8 ATP binding cassette subfamily C member 8 treatment ISO
IEP
IMP		 mRNA:increased expression:spinal cord RGD PMID:20410530 PMID:25763638 PMID:20410530 PMID:20410530 RGD:12790978, RGD:12791993, RGD:12790978, RGD:12790978 NCBI chr 1:105,734,992...105,816,272
Ensembl chr 1:96,598,647...96,679,510 		JBrowse link
G Acan aggrecan IEP protein:altered expression:spinal cord (rat) RGD PMID:14769391 RGD:2315837 NCBI chr 1:142,390,951...142,453,779
Ensembl chr 1:132,981,582...133,043,627 		JBrowse link
G Adarb1 adenosine deaminase, RNA-specific, B1 IDA RGD PMID:20456005 RGD:10755338 NCBI chr20:11,222,171...11,350,416
Ensembl chr20:11,222,583...11,350,852 		JBrowse link
G Adcy3 adenylate cyclase 3 treatment IEP RGD PMID:24970286 RGD:407550181 NCBI chr 6:32,819,602...32,923,174
Ensembl chr 6:27,124,828...27,203,686 		JBrowse link
G Adcyap1 adenylate cyclase activating polypeptide 1 IEP
IDA		 protein:altered expression:spinal cord,dorsal root ganglion, urinary bladder RGD PMID:15698618 PMID:15913892 RGD:2325309, RGD:2325306 NCBI chr 9:120,550,236...120,569,096
Ensembl chr 9:113,103,718...113,109,773 		JBrowse link
G Adipoq adiponectin, C1Q and collagen domain containing ISO protein:increased expression:serum RGD PMID:16213239 RGD:5686719 NCBI chr11:91,226,524...91,240,244
Ensembl chr11:77,721,912...77,735,564 		JBrowse link
G Adora1 adenosine A1 receptor IMP
IDA
IEP		 protein:decreased expression:spinal cord RGD PMID:18289533 PMID:20065990 PMID:17853654 RGD:5129096, RGD:5129094, RGD:4890369 NCBI chr13:48,210,922...48,247,826
Ensembl chr13:45,658,872...45,695,801 		JBrowse link
G Adora2a adenosine A2a receptor IEP RGD PMID:17559837 RGD:4890378 NCBI chr20:13,315,270...13,332,802
Ensembl chr20:13,315,853...13,333,386 		JBrowse link
G Adra1a adrenoceptor alpha 1A IEP mRNA:increased expression:aorta RGD PMID:16524515 RGD:5688371 NCBI chr15:45,005,648...45,111,416
Ensembl chr15:40,832,534...40,927,500 		JBrowse link
G Ager advanced glycosylation end product-specific receptor IEP protein:increased expression:spinal cord (rat) RGD PMID:20195207 RGD:2325645 NCBI chr20:4,152,758...4,155,956
Ensembl chr20:4,147,890...4,151,078 		JBrowse link
G Aif1 allograft inflammatory factor 1 IEP protein:altered expression:spinal cord dorsal horn (rat) RGD PMID:17158026 RGD:2313037 NCBI chr20:3,651,435...3,657,341
Ensembl chr20:3,646,777...3,652,668 		JBrowse link
G Akt1 AKT serine/threonine kinase 1 IEP RGD PMID:20678995 RGD:10040962 NCBI chr 6:137,534,810...137,555,131
Ensembl chr 6:131,713,720...131,733,921 		JBrowse link
G Akt1s1 AKT1 substrate 1 ISO CTD Direct Evidence: therapeutic CTD PMID:17457363 NCBI chr 1:104,469,823...104,476,168
Ensembl chr 1:95,332,898...95,339,677 		JBrowse link
G Ambra1 autophagy and beclin 1 regulator 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29793971 NCBI chr 3:98,156,626...98,345,876
Ensembl chr 3:77,700,936...77,890,221 		JBrowse link
G Ankrd1 ankyrin repeat domain 1 IEP mRNA:increased expression:spinal cord, dorsal root ganglion, neuron RGD PMID:17610582 RGD:5133279 NCBI chr 1:243,228,460...243,237,014
Ensembl chr 1:233,815,851...233,834,919 		JBrowse link
G Anp32b acidic nuclear phosphoprotein 32 family member B IEP RGD PMID:25034417 RGD:10401137 NCBI chr 5:65,538,872...65,561,305
Ensembl chr 5:60,743,443...60,765,717 		JBrowse link
G Anxa1 annexin A1 treatment ISO
IEP		 mRNA,protein:increased expression:neuron,glial cell RGD PMID:17917587 PMID:15248295 RGD:2306891, RGD:10053688 NCBI chr 1:227,287,713...227,306,739
Ensembl chr 1:217,861,175...217,877,343 		JBrowse link
G Anxa2 annexin A2 IEP mRNA,protein:increased expression:neuron,glial cell RGD PMID:15248295 RGD:10053688 NCBI chr 8:78,986,252...79,022,638
Ensembl chr 8:70,105,253...70,141,658 		JBrowse link
G Anxa5 annexin A5 IEP mRNA,protein:increased expression:neuron,glial cell RGD PMID:15248295 RGD:10053688 NCBI chr 2:121,242,133...121,272,935
Ensembl chr 2:119,314,007...119,353,369 		JBrowse link
G Apaf1 apoptotic peptidase activating factor 1 IEP RGD PMID:21748659 RGD:10053608 NCBI chr 7:27,381,392...27,466,772
Ensembl chr 7:25,494,609...25,579,540 		JBrowse link
G Apex1 apurinic/apyrimidinic endodeoxyribonuclease 1 IEP mRNA:increased expression:spinal cord RGD PMID:18637713 RGD:2315670 NCBI chr15:26,618,146...26,620,330
Ensembl chr15:24,144,362...24,146,785 		JBrowse link
G Apoe apolipoprotein E ISO
IEP		 DNA:polymorphism:exon: RGD PMID:18581664 PMID:30036659 RGD:7771551, RGD:13703128 NCBI chr 1:88,481,889...88,485,816
Ensembl chr 1:79,353,916...79,357,932 		JBrowse link
G Aqp1 aquaporin 1 IEP
ISO		 protein:increased expression:spinal cord, neuron, astrocyte
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:21092735 PMID:18248364 PMID:21092735 RGD:2307072, RGD:5148013 NCBI chr 4:85,812,784...85,824,964
Ensembl chr 4:84,482,512...84,494,690 		JBrowse link
G Aqp4 aquaporin 4 IEP
ISO		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:21092735 PMID:21092735 PMID:21280976 PMID:20517941 RGD:5148013, RGD:5148035, RGD:5148027 NCBI chr18:6,782,389...6,799,034
Ensembl chr18:6,507,903...6,524,856 		JBrowse link
G Atf4 activating transcription factor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29793971 NCBI chr 7:113,684,681...113,686,739
Ensembl chr 7:111,804,183...111,806,446 		JBrowse link
G Atg5 autophagy related 5 IEP
ISO		 protein:increased expression:axon
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:29793971 PMID:25040536 RGD:11553820 NCBI chr20:49,380,835...49,471,826
Ensembl chr20:47,798,290...47,889,209 		JBrowse link
G Atg7 autophagy related 7 IEP protein:increased expression:axon RGD PMID:25040536 RGD:11553820 NCBI chr 4:149,390,000...149,597,534
Ensembl chr 4:147,718,752...147,925,593 		JBrowse link
G Atm ATM serine/threonine kinase IEP protein:increased expression:spinal cord RGD PMID:21748659 RGD:10053608 NCBI chr 8:62,724,939...62,829,040
Ensembl chr 8:53,831,093...53,932,437 		JBrowse link
G Atp2a1 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 IEP protein:decreased expression:tail, skeletal muscle RGD PMID:21930674 RGD:13782071 NCBI chr 1:190,457,198...190,475,410
Ensembl chr 1:181,026,608...181,044,838 		JBrowse link
G Atp2a2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 IEP protein:decreased expression:tail, skeletal muscle RGD PMID:21930674 RGD:13782071 NCBI chr12:39,733,519...39,782,942
Ensembl chr12:34,072,683...34,122,101 		JBrowse link
G Bambi BMP and activin membrane-bound inhibitor IEP mRNA,protein:decreased expression:spinal cord: RGD PMID:28035406 RGD:14390163 NCBI chr17:58,816,438...58,821,003
Ensembl chr17:54,121,255...54,126,060 		JBrowse link
G Bax BCL2 associated X, apoptosis regulator treatment IEP RGD PMID:27256506 RGD:13792677 NCBI chr 1:105,076,472...105,081,906
Ensembl chr 1:95,938,808...95,945,368 		JBrowse link
G Bcan brevican treatment IEP RGD PMID:15016081 RGD:9589823 NCBI chr 2:175,752,333...175,765,766
Ensembl chr 2:173,454,482...173,467,460 		JBrowse link
G Bcl2 BCL2, apoptosis regulator treatment IEP RGD PMID:27256506 RGD:13792677 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 Bdnf brain-derived neurotrophic factor treatment ISO
IDA
IEP		 RGD PMID:16022868 PMID:22490786 PMID:24551172 PMID:19203225 RGD:4891112, RGD:405850245, RGD:10059354, RGD:4891066 NCBI chr 3:116,619,633...116,670,212
Ensembl chr 3:96,165,042...96,215,615 		JBrowse link
G Becn1 beclin 1 treatment ISO
IEP		 protein:increased expression:spinal cord
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:29793971 PMID:21806471 PMID:23852559 PMID:24559459 RGD:6483100, RGD:11561922, RGD:11561918 NCBI chr10:86,731,649...86,747,002
Ensembl chr10:86,231,388...86,246,742 		JBrowse link
G Bmp2 bone morphogenetic protein 2 IDA RGD PMID:23770801 RGD:9068404 NCBI chr 3:141,264,648...141,275,416
Ensembl chr 3:120,812,882...120,821,397 		JBrowse link
G Bmp4 bone morphogenetic protein 4 treatment IDA
ISO		 RGD PMID:23770801 PMID:18803859 RGD:9068404, RGD:9068437 NCBI chr15:22,098,191...22,113,145
Ensembl chr15:19,618,542...19,623,306 		JBrowse link
G Bnip3 BCL2 interacting protein 3 IEP protein:increased expression:spinal cord RGD PMID:23637053 RGD:11564330 NCBI chr 1:203,137,778...203,154,962
Ensembl chr 1:193,708,167...193,725,359 		JBrowse link
G Bnip3l BCL2 interacting protein 3 like IEP protein:increased expression:spinal cord RGD PMID:23637053 RGD:11564330 NCBI chr15:45,350,081...45,373,213
Ensembl chr15:41,174,594...41,197,803 		JBrowse link
G Brca2 BRCA2, DNA repair associated IEP mRNA,protein:increased expression:spinal cord: RGD PMID:21748659 RGD:10053608 NCBI chr12:4,895,092...4,939,340
Ensembl chr12:59,819...100,567 		JBrowse link
G C1qb complement C1q B chain IEP mRNA:increased expression RGD PMID:16345062 RGD:1599510 NCBI chr 5:154,402,276...154,407,827
Ensembl chr 5:149,118,846...149,124,407 		JBrowse link
G Capn1 calpain 1 treatment IMP RGD PMID:23102374 RGD:13792496 NCBI chr 1:212,705,219...212,736,134
Ensembl chr 1:203,277,344...203,300,177 		JBrowse link
G Capzb capping actin protein of muscle Z-line subunit beta IEP protein:decreased expression:spinal cord RGD PMID:20141154 RGD:9685028 NCBI chr 5:156,718,619...156,818,623
Ensembl chr 5:151,434,871...151,535,409 		JBrowse link
G Casp1 caspase 1 IDA protein:increased expression, increased activation:spinal cord RGD PMID:18367607 RGD:2315889 NCBI chr 8:10,746,338...10,882,295
Ensembl chr 8:2,587,831...2,597,383 		JBrowse link
G Casp12 caspase 12 treatment IEP
IDA		 associated with Diabetes Mellitus, Experimental RGD PMID:19215662 PMID:26884858 RGD:2311450, RGD:11560925 NCBI chr 8:10,927,188...10,954,442
Ensembl chr 8:2,642,434...2,674,037 		JBrowse link
G Casp3 caspase 3 treatment IMP
IEP
IDA
ISO		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:14588118 PMID:18378144 PMID:27256506 PMID:27339639 PMID:21748659 RGD:2293322, RGD:13792677, RGD:13782345, RGD:10053608 NCBI chr16:52,395,539...52,413,794
Ensembl chr16:45,662,910...45,684,648 		JBrowse link
G Casp9 caspase 9 treatment IEP
IDA		 RGD PMID:21748659 PMID:27339639 RGD:10053608, RGD:13782345 Ensembl chr 5:154,109,046...154,126,626 JBrowse link
G Cav1 caveolin 1 IEP protein:increased phosphorylation:spinal cord RGD PMID:17275798 RGD:2289124 NCBI chr 4:46,606,538...46,639,616
Ensembl chr 4:45,634,918...45,673,705 		JBrowse link
G Ccl12 C-C motif chemokine ligand 12 IEP mRNA:increased expression:spinal cord RGD PMID:9698165 RGD:5135274 NCBI chr10:67,567,876...67,569,426
Ensembl chr10:67,070,230...67,071,780 		JBrowse link
G Ccl5 C-C motif chemokine ligand 5 ISO mRNA:increased expression:spinal cord segment (mouse) RGD PMID:20478301 RGD:4889905 NCBI chr10:68,820,330...68,824,906
Ensembl chr10:68,322,829...68,327,377 		JBrowse link
G Ccnd3 cyclin D3 IEP protein:increased expression:spinal cord RGD PMID:18008145 RGD:2316019 NCBI chr 9:20,891,696...20,987,199
Ensembl chr 9:13,394,169...13,489,371 		JBrowse link
G Ccne1 cyclin E1 IEP protein:increased expression:spinal cord RGD PMID:16759516 RGD:2289281 NCBI chr 1:99,918,672...99,927,986
Ensembl chr 1:90,781,949...90,791,101 		JBrowse link
G Ccnh cyclin H IEP mRNA, protein:increased expression:spinal cord RGD PMID:21710280 RGD:9590263 NCBI chr 2:17,570,449...17,591,078
Ensembl chr 2:15,834,833...15,855,819 		JBrowse link
G Ccr1 C-C motif chemokine receptor 1 IEP RGD PMID:21332278 RGD:5688138 NCBI chr 8:132,433,711...132,439,266 JBrowse link
G Ccr2 C-C motif chemokine receptor 2 IEP protein:increased expression:spinal cord RGD PMID:18338959 RGD:4144888 NCBI chr 8:132,611,883...132,619,106
Ensembl chr 8:123,734,430...123,742,100 		JBrowse link
G Cd274 CD274 molecule IEP mRNA:increased expression:microglial cell RGD PMID:29665726 RGD:40886268 NCBI chr 1:236,526,215...236,549,956
Ensembl chr 1:227,116,649...227,134,450 		JBrowse link
G Cdc42 cell division cycle 42 IEP mRNA:increased expression:spinal cord RGD PMID:15736231 RGD:5688276 NCBI chr 5:154,838,478...154,876,629
Ensembl chr 5:149,553,724...149,593,111 		JBrowse link
G Cdk1 cyclin-dependent kinase 1 IEP protein:increased expression:spinal cord dura mater (rat) RGD PMID:19672039 RGD:2316488 NCBI chr20:19,265,252...19,280,456
Ensembl chr20:19,266,248...19,281,408 		JBrowse link
G Cdk19 cyclin-dependent kinase 19 IEP mRNA, protein:increased expression:spinal cord RGD PMID:18008145 RGD:2316019 NCBI chr20:45,324,911...45,465,121
Ensembl chr20:43,770,409...43,910,628 		JBrowse link
G Cdkn1b cyclin-dependent kinase inhibitor 1B IDA protein:decreased expression, altered localization:spinal cord, neuron, microglial cell RGD PMID:18319192 RGD:2293615 NCBI chr 4:169,491,273...169,496,500
Ensembl chr 4:167,760,181...167,764,982 		JBrowse link
G Chl1 cell adhesion molecule L1-like IEP protein:increased expression:spinal cord (rat) RGD PMID:21337374 RGD:6483045 NCBI chr 4:137,847,648...138,062,077
Ensembl chr 4:136,291,463...136,503,265 		JBrowse link
G Cnr1 cannabinoid receptor 1 IEP RGD PMID:18930143 RGD:2316199 NCBI chr 5:53,204,867...53,230,396
Ensembl chr 5:48,408,574...48,435,099 		JBrowse link
G Cnr2 cannabinoid receptor 2 IEP RGD PMID:18930143 RGD:2316199 NCBI chr 5:153,408,968...153,435,092
Ensembl chr 5:148,125,604...148,151,548 		JBrowse link
G Cr2 complement C3d receptor 2 IEP protein:increased expression:cerebrospinal fluid RGD PMID:26502875 RGD:11343913 NCBI chr13:109,207,034...109,244,980
Ensembl chr13:106,685,413...106,716,235 		JBrowse link
G Crh corticotropin releasing hormone IEP protein:altered expression:spinal cord (rat) RGD PMID:20458328 RGD:5490964 NCBI chr 2:104,059,184...104,061,048
Ensembl chr 2:102,143,055...102,144,919 		JBrowse link
G Crp C-reactive protein IDA RGD PMID:22404382 RGD:6903321 NCBI chr13:87,694,062...87,695,978
Ensembl chr13:85,124,977...85,175,178 		JBrowse link
G Csf2 colony stimulating factor 2 treatment ISO RGD PMID:15658127 RGD:10449531 NCBI chr10:38,887,692...38,889,673
Ensembl chr10:38,386,945...38,389,199 		JBrowse link
G Csf3 colony stimulating factor 3 treatment ISO RGD PMID:21953623 RGD:10450511 NCBI chr10:84,157,485...84,159,860
Ensembl chr10:83,661,207...83,663,603 		JBrowse link
G Cspg4 chondroitin sulfate proteoglycan 4 ISO
IDA		 RGD PMID:22243800 PMID:19604403 PMID:22042562 RGD:5686844, RGD:5686859, RGD:5686848 NCBI chr 8:66,160,942...66,195,987
Ensembl chr 8:57,264,962...57,300,010 		JBrowse link
G Ctss cathepsin S IEP RGD PMID:16344894 RGD:2303423 NCBI chr 2:185,775,316...185,803,440
Ensembl chr 2:183,086,437...183,114,483 		JBrowse link
G Cxcl1 C-X-C motif chemokine ligand 1 IEP RGD PMID:9698165 RGD:5135274 NCBI chr14:17,477,542...17,479,321
Ensembl chr14:17,193,365...17,195,215 		JBrowse link
G Cxcl10 C-X-C motif chemokine ligand 10 IEP RGD PMID:19170890 RGD:2311365 NCBI chr14:15,989,066...15,991,263
Ensembl chr14:15,704,758...15,706,975 		JBrowse link
G Cyba cytochrome b-245 alpha chain IEP mRNA:increased expression:spinal cord RGD PMID:16345062 RGD:1599510 NCBI chr19:67,396,143...67,404,214
Ensembl chr19:50,487,597...50,495,721 		JBrowse link
G Cybb cytochrome b-245 beta chain ISO mRNA,protein:increased expression:microglia: RGD PMID:20679217 RGD:11040629 NCBI chr  X:16,030,596...16,065,065
Ensembl chr  X:13,359,430...13,392,586 		JBrowse link
G Dab2 DAB adaptor protein 2 IEP protein:increased expression:spinal cord RGD PMID:17317100 RGD:7243246 NCBI chr 2:57,241,947...57,294,893
Ensembl chr 2:55,514,700...55,567,476 		JBrowse link
G Dcc DCC netrin 1 receptor IEP RGD PMID:16998900 RGD:2314373 NCBI chr18:67,144,272...68,248,159
Ensembl chr18:64,873,898...65,972,740 		JBrowse link
G Ddit3 DNA-damage inducible transcript 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29793971 NCBI chr 7:65,001,695...65,006,517
Ensembl chr 7:63,116,380...63,121,201 		JBrowse link
G Dusp1 dual specificity phosphatase 1 treatment IEP protein:decreased expression:spinal cord RGD PMID:18630599 PMID:19383246 RGD:7771572, RGD:7771580 NCBI chr10:17,184,853...17,187,646 JBrowse link
G Efnb2 ephrin B2 IEP mRNA,protein:increased expression:fibroblast, astrocyte
protein:increased phosporylation:spinal cord		 RGD PMID:33794069 PMID:12944508 RGD:127285659, RGD:127285804 NCBI chr16:87,485,215...87,529,224
Ensembl chr16:80,783,417...80,824,391 		JBrowse link
G Egfr epidermal growth factor receptor IMP
IEP		 protein:increased phosphorylation:spinal cord, astrocyte (rat) RGD PMID:20869112 PMID:21402118 RGD:5131525, RGD:5131454 NCBI chr14:95,378,626...95,551,358
Ensembl chr14:91,177,067...91,344,382 		JBrowse link
G Eif5a eukaryotic translation initiation factor 5A IEP mRNA, protein:increased expression:gastrocnemius RGD PMID:23238062 RGD:10395360 NCBI chr10:55,138,821...55,143,272
Ensembl chr10:54,640,024...54,644,656 		JBrowse link
G Endog endonuclease G IEP RGD PMID:16689664 RGD:8655990 NCBI chr 3:33,846,935...33,849,531
Ensembl chr 3:13,449,086...13,451,932 		JBrowse link
G Eno2 enolase 2 IEP protein:increased expression:serum, cerebrospinal fluid RGD PMID:18343116 RGD:2293743 NCBI chr 4:159,258,371...159,267,220
Ensembl chr 4:157,572,088...157,580,980 		JBrowse link
G Ensa endosulfine alpha IEP mRNA:decreased expression:spinal cord RGD PMID:16344894 RGD:2303423 NCBI chr 2:185,874,500...185,881,838
Ensembl chr 2:183,185,552...183,194,847 		JBrowse link
G Epha3 Eph receptor A3 IEP RGD PMID:16083359 RGD:2301766 NCBI chr11:14,585,041...14,920,721
Ensembl chr11:1,140,985...1,473,900 		JBrowse link
G Epha4 Eph receptor A4 IMP
IEP
ISO		 RGD PMID:17970742 PMID:17418490 PMID:21931787 RGD:5688750, RGD:5688782, RGD:5688764 NCBI chr 9:86,263,982...86,406,744
Ensembl chr 9:78,815,460...78,958,139 		JBrowse link
G Epha7 Eph receptor A7 IMP mRNA:increased expression:spinal cord RGD PMID:16983667 RGD:2301957 NCBI chr 5:47,771,776...47,925,189
Ensembl chr 5:42,975,405...43,127,112 		JBrowse link
G Ephb2 Eph receptor B2 ameliorates IMP
IEP		 RGD PMID:33794069 PMID:12944508 RGD:127285659, RGD:127285804 NCBI chr 5:154,179,065...154,360,459
Ensembl chr 5:148,897,246...149,077,059 		JBrowse link
G Epo erythropoietin treatment ISO RGD PMID:22196867 RGD:10401074 NCBI chr12:24,841,285...24,844,725
Ensembl chr12:19,204,508...19,207,946 		JBrowse link
G Erbb3 erb-b2 receptor tyrosine kinase 3 IEP mRNA, protein:increased expression:spinal cord RGD PMID:11797086 RGD:2289967 NCBI chr 7:1,579,079...1,600,379
Ensembl chr 7:996,225...1,015,525 		JBrowse link
G Esr1 estrogen receptor 1 IEP RGD PMID:25105782 RGD:10045844 NCBI chr 1:43,511,685...43,904,454
Ensembl chr 1:41,210,475...41,495,002 		JBrowse link
G Esr2 estrogen receptor 2 IEP RGD PMID:25105782 RGD:10045844 NCBI chr 6:100,589,553...100,645,240
Ensembl chr 6:94,809,547...94,908,919 		JBrowse link
G F2 coagulation factor II, thrombin IEP RGD PMID:16344894 RGD:2303423 NCBI chr 3:98,051,958...98,065,246
Ensembl chr 3:77,596,198...77,609,486 		JBrowse link
G Fadd Fas associated via death domain treatment IEP RGD PMID:23574812 RGD:11344882 NCBI chr 1:209,169,245...209,175,423
Ensembl chr 1:199,739,994...199,745,653 		JBrowse link
G Fas Fas cell surface death receptor IEP
IDA		 protein:increased expression:cervical spinal cord RGD PMID:17518537 PMID:29738767 PMID:17703359 RGD:2290177, RGD:13792580, RGD:2290176 NCBI chr 1:241,212,155...241,245,774
Ensembl chr 1:231,798,960...231,832,591 		JBrowse link
G Fgf1 fibroblast growth factor 1 ISO
IDA		 Human FGF1 used in rat model of spinal cord injury RGD PMID:21663406 PMID:18482974 PMID:20488178 PMID:8662542 RGD:5509875, RGD:2317692, RGD:5509877, RGD:5509876 NCBI chr18:30,937,670...31,023,786
Ensembl chr18:30,686,581...30,772,357 		JBrowse link
G Fgf2 fibroblast growth factor 2 treatment IEP RGD PMID:24968269 RGD:40924652 NCBI chr 2:122,164,454...122,218,796
Ensembl chr 2:120,236,328...120,291,221 		JBrowse link
G Fis1 fission, mitochondrial 1 treatment IEP RGD PMID:26079325 RGD:12437066 NCBI chr12:25,345,239...25,360,135
Ensembl chr12:19,708,558...19,723,377 		JBrowse link
G Fkbp1b FKBP prolyl isomerase 1B IDA RGD PMID:27998200 RGD:329853757 NCBI chr 6:33,551,583...33,570,055
Ensembl chr 6:27,838,802...27,848,653 		JBrowse link
G Flt1 Fms related receptor tyrosine kinase 1 IEP mRNA:increased expression:spinal cord, astrocyte, macrophage RGD PMID:17409380 RGD:5684414 NCBI chr12:12,333,050...12,504,750
Ensembl chr12:7,297,292...7,468,626 		JBrowse link
G Fn1 fibronectin 1 ISO RGD PMID:20347014 RGD:7205459 NCBI chr 9:80,645,507...80,714,200
Ensembl chr 9:73,196,044...73,264,678 		JBrowse link
G Foxo3 forkhead box O3 IEP protein:decreased expression:spinal cord,neuron, astrocyte: RGD PMID:22930444 RGD:10402202 NCBI chr20:47,251,968...47,348,254
Ensembl chr20:45,672,995...45,764,561 		JBrowse link
G Foxp3 forkhead box P3 treatment IEP RGD PMID:30287503 RGD:38549580 NCBI chr  X:17,580,380...17,601,181
Ensembl chr  X:14,908,494...14,923,838 		JBrowse link
G Gap43 growth associated protein 43 treatment IEP RGD PMID:24968269 RGD:40924652 NCBI chr11:71,882,131...71,975,799
Ensembl chr11:58,376,371...58,470,045 		JBrowse link
G Gapdh glyceraldehyde-3-phosphate dehydrogenase treatment IDA RGD PMID:27256506 RGD:13792677 NCBI chr 4:159,648,592...159,653,436
Ensembl chr 4:157,962,343...157,966,235 		JBrowse link
G Gdnf glial cell derived neurotrophic factor treatment ISO
IEP		 RGD PMID:22342994 PMID:28296347 PMID:36914965 PMID:26415641 PMID:22490786 RGD:5688774, RGD:405878060, RGD:405878056, RGD:13208513, RGD:405850245 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 treatment ISO
IEP		 protein:increased expression:spinal cord RGD PMID:10225952 PMID:24968269 PMID:21250919 RGD:6480471, RGD:40924652, RGD:6480511 NCBI chr10:88,352,987...88,361,661
Ensembl chr10:87,852,890...87,861,589 		JBrowse link
G Ghsr growth hormone secretagogue receptor IMP RGD PMID:25261791 RGD:12907564 NCBI chr 2:112,196,158...112,201,666
Ensembl chr 2:110,268,489...110,271,865 		JBrowse link
G Gja1 gap junction protein, alpha 1 treatment IMP
IEP		 RGD PMID:23403365 PMID:24183749 RGD:8662431, RGD:8662460 NCBI chr20:36,302,490...36,315,010
Ensembl chr20:35,755,991...35,768,582 		JBrowse link
G Gjc2 gap junction protein, gamma 2 treatment IEP RGD PMID:26415641 RGD:13208513 NCBI chr10:44,462,203...44,470,924
Ensembl chr10:43,962,642...43,970,467 		JBrowse link
G Got2 glutamic-oxaloacetic transaminase 2 IEP protein:increased expression:spinal cord (rat) RGD PMID:27150525 RGD:13506243 NCBI chr19:9,180,428...9,206,113
Ensembl chr19:9,174,311...9,199,994 		JBrowse link
G Gper1 G protein-coupled estrogen receptor 1 IMP RGD PMID:22975889 RGD:8552988 NCBI chr12:20,331,073...20,336,527
Ensembl chr12:15,217,442...15,221,889 		JBrowse link
G Gpx3 glutathione peroxidase 3 IEP protein:increased expression:cerebrospinal fluid RGD PMID:21559420 RGD:40907059 NCBI chr10:39,529,335...39,537,406
Ensembl chr10:39,028,570...39,037,035 		JBrowse link
G Grk6 G protein-coupled receptor kinase 6 IEP protein:increased expression:spinal cord, neuron, microglial cell (rat) RGD PMID:23359120 RGD:13792782 NCBI chr17:9,182,160...9,198,380
Ensembl chr17:9,177,019...9,192,644 		JBrowse link
G Grn granulin precursor ISO mRNA, protein:increased expression:spinal cord: RGD PMID:19946692 RGD:5509603 NCBI chr10:87,887,834...87,893,938
Ensembl chr10:87,387,638...87,393,775 		JBrowse link
G Gsta4 glutathione S-transferase alpha 4 IEP mRNA:increased expression:lumbar segment of spinal cord (rat) RGD PMID:22160604 RGD:5687769 NCBI chr 8:87,947,247...87,964,490
Ensembl chr 8:79,066,934...79,084,182 		JBrowse link
G Hgf hepatocyte growth factor treatment ISO
IEP
IDA		 mRNA,protein:increased expression:spinal cord: RGD PMID:22140459 PMID:17549731 PMID:17549731 RGD:8548666, RGD:2317487, RGD:2317487 NCBI chr 4:19,628,902...19,700,467
Ensembl chr 4:18,677,101...18,745,409 		JBrowse link
G Hif1a hypoxia inducible factor 1 subunit alpha IEP
ISO		 protein:increased expression:spinal cord
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:21092735 PMID:21092735 RGD:5148013 NCBI chr 6:98,357,788...98,405,068
Ensembl chr 6:92,624,390...92,669,261 		JBrowse link
G Hmgb1 high mobility group box 1 IEP mRNA:increased expression:spinal cord RGD PMID:20195207 RGD:2325645 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 Hmox1 heme oxygenase 1 treatment IEP RGD PMID:23943397 RGD:10766443 NCBI chr19:13,452,365...13,479,823
Ensembl chr19:13,467,244...13,474,079 		JBrowse link
G Hrh3 histamine receptor H3 IDA RGD PMID:16671478 RGD:1626425 NCBI chr 3:187,569,174...187,575,263
Ensembl chr 3:167,191,558...167,196,642 		JBrowse link
G Hsp90ab1 heat shock protein 90 alpha family class B member 1 IEP protein:decreased expression:spinal cord (rat) RGD PMID:24499940 RGD:10445836 NCBI chr 9:22,930,249...22,935,929
Ensembl chr 9:15,433,691...15,438,488 		JBrowse link
G Hspa5 heat shock protein family A (Hsp70) member 5 ISO mRNA: increased expression RGD PMID:21933012 RGD:5685666 NCBI chr 3:38,453,016...38,457,475
Ensembl chr 3:18,055,405...18,059,891 		JBrowse link
G Hspb1 heat shock protein family B (small) member 1 treatment IEP mRNA,protein:increased expression:spinal cord: RGD PMID:12098653 PMID:30287503 RGD:10402749, RGD:38549580 NCBI chr12:26,430,640...26,432,301
Ensembl chr12:20,794,028...20,795,743 		JBrowse link
G Icam1 intercellular adhesion molecule 1 treatment IMP RGD PMID:8627308 RGD:11522712 NCBI chr 8:27,829,688...27,841,618
Ensembl chr 8:19,553,645...19,565,438 		JBrowse link
G Id1 inhibitor of DNA binding 1 IEP mRNA:increased expression:spinal cord (rat) RGD PMID:11746449 RGD:9686138 NCBI chr 3:161,671,525...161,672,691
Ensembl chr 3:141,211,267...141,212,419 		JBrowse link
G Id2 inhibitor of DNA binding 2 IEP mRNA:increased expression:spinal cord (rat) RGD PMID:11746449 RGD:9686138 NCBI chr 6:47,469,162...47,470,995
Ensembl chr 6:41,728,946...41,744,400 		JBrowse link
G Id3 inhibitor of DNA binding 3 IEP mRNA:increased expression:spinal cord (rat) RGD PMID:11746449 RGD:9686138 NCBI chr 5:153,656,253...153,657,860
Ensembl chr 5:148,372,762...148,374,349 		JBrowse link
G Ifnb1 interferon beta 1 ameliorates ISO
IEP		 RGD PMID:17426631 PMID:20109445 RGD:401854235, RGD:401854241 NCBI chr 5:108,066,650...108,067,487
Ensembl chr 5:103,020,969...103,021,523 		JBrowse link
G Il10 interleukin 10 treatment IEP RGD PMID:29691718 RGD:14975124 NCBI chr13:45,024,921...45,029,586
Ensembl chr13:42,472,839...42,477,313 		JBrowse link
G Il18 interleukin 18 treatment IDA
IEP		 RGD PMID:18367607 PMID:23140983 RGD:2315889, RGD:8655974 NCBI chr 8:59,802,072...59,829,275
Ensembl chr 8:50,906,960...50,932,887 		JBrowse link
G Il1b interleukin 1 beta treatment IEP
IDA		 mRNA, protein:increased expression:spinal cord RGD PMID:16038625 PMID:29691718 PMID:23209732 RGD:1626673, RGD:14975124, RGD:7175523 NCBI chr 3:137,030,200...137,036,581
Ensembl chr 3:116,577,010...116,583,415 		JBrowse link
G Il1r1 interleukin 1 receptor type 1 IEP mRNA,protein:increased expression:spinal cord RGD PMID:16456668 RGD:7207035 NCBI chr 9:50,000,558...50,076,579
Ensembl chr 9:42,504,735...42,579,937 		JBrowse link
G Il1rn interleukin 1 receptor antagonist IDA
ISO		 protein:increased expression:serum (human) RGD PMID:16038625 PMID:17964877 RGD:1626673, RGD:6907102 NCBI chr 3:27,509,836...27,525,738
Ensembl chr 3:7,111,550...7,127,445 		JBrowse link
G Il4 interleukin 4 IMP RGD PMID:20623539 RGD:5128562 NCBI chr10:38,272,003...38,277,549
Ensembl chr10:37,771,203...37,776,750 		JBrowse link
G Il4r interleukin 4 receptor IEP mRNA:increased expression:spinal cord RGD PMID:20623539 RGD:5128562 NCBI chr 1:189,545,739...189,570,639
Ensembl chr 1:180,115,120...180,139,980 		JBrowse link
G Il6 interleukin 6 treatment IDA
IEP		 RGD PMID:27085942 PMID:29691718 RGD:11062150, RGD:14975124 NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,213,394...5,219,178 		JBrowse link
G Irf1 interferon regulatory factor 1 IEP RGD PMID:11723173 RGD:2298928 NCBI chr10:38,417,935...38,424,946
Ensembl chr10:37,916,670...37,924,166 		JBrowse link
G Irf5 interferon regulatory factor 5 treatment IEP RGD PMID:24968269 RGD:40924652 NCBI chr 4:59,092,914...59,104,596
Ensembl chr 4:58,127,640...58,139,267 		JBrowse link
G Itih4 inter-alpha-trypsin inhibitor heavy chain 4 severity IEP protein:decreased expression:cerebrospinal fluid RGD PMID:21559420 RGD:40907059 NCBI chr16:6,086,985...6,102,162
Ensembl chr16:6,080,539...6,095,708 		JBrowse link
G Jak2 Janus kinase 2 treatment IMP RGD PMID:23274522 RGD:10411896 NCBI chr 1:236,408,905...236,468,769
Ensembl chr 1:226,995,334...227,054,189 		JBrowse link
G Jun Jun proto-oncogene, AP-1 transcription factor subunit IDA protein:increased phosphorylation:neuron RGD PMID:21132399 RGD:4889994 NCBI chr 5:115,009,900...115,012,993
Ensembl chr 5:109,893,145...109,897,656 		JBrowse link
G Kcnj10 potassium inwardly-rectifying channel, subfamily J, member 10 IEP protein:decreased expression:spinal cord RGD PMID:20375134 RGD:8662905 NCBI chr13:87,334,510...87,367,747
Ensembl chr13:84,802,009...84,835,461 		JBrowse link
G Kcnk2 potassium two pore domain channel subfamily K member 2 treatment IDA RGD PMID:22425721 RGD:9831183 NCBI chr13:103,297,387...103,494,686
Ensembl chr13:100,766,113...100,963,435 		JBrowse link
G Kcnn4 potassium calcium-activated channel subfamily N member 4 ISO RGD PMID:24606313 RGD:329955563 NCBI chr 1:89,084,306...89,102,279
Ensembl chr 1:79,959,322...79,974,340 		JBrowse link
G Kdm6b lysine demethylase 6B IEP mRNA:increased expression:spinal cord (rat) RGD PMID:22578249 RGD:9587821 NCBI chr10:54,619,520...54,641,014
Ensembl chr10:54,121,848...54,130,794 		JBrowse link
G Kdr kinase insert domain receptor IEP mRNA:increased expression:spinal cord, astrocyte, macrophage RGD PMID:17409380 RGD:5684414 NCBI chr14:32,572,031...32,615,204
Ensembl chr14:32,217,871...32,261,018 		JBrowse link
G Kif3b kinesin family member 3B IEP protein:increased expression:spinal cord RGD PMID:23093447 RGD:11049594 NCBI chr 3:162,218,621...162,258,191
Ensembl chr 3:141,758,466...141,797,963 		JBrowse link
G Klk6 kallikrein related-peptidase 6 IEP protein:increased expression:spinal cord RGD PMID:16987227 RGD:2314866 NCBI chr 1:103,415,411...103,422,682
Ensembl chr 1:94,280,340...94,286,121 		JBrowse link
G Kmo kynurenine 3-monooxygenase IEP mRNA,protein:increased expression:spinal cord: RGD PMID:26524415 RGD:13703043 NCBI chr13:90,089,340...90,121,108
Ensembl chr13:87,557,286...87,588,881 		JBrowse link
G Lep leptin IEP RGD PMID:19777863 RGD:5128780 NCBI chr 4:58,626,529...58,640,663
Ensembl chr 4:57,661,131...57,675,262 		JBrowse link
G Lrp1 LDL receptor related protein 1 treatment IDA RGD PMID:23867460 RGD:13800520 NCBI chr 7:65,265,639...65,346,196
Ensembl chr 7:63,380,356...63,460,910 		JBrowse link
G Lrp5 LDL receptor related protein 5 treatment IEP RGD PMID:24090150 RGD:12798566 NCBI chr 1:210,243,499...210,346,886
Ensembl chr 1:200,814,250...200,917,581 		JBrowse link
G Lum lumican IEP protein:increased expression:spinal cord RGD PMID:18482974 RGD:2317692 NCBI chr 7:34,245,323...34,252,510
Ensembl chr 7:32,358,614...32,365,793 		JBrowse link
G Map1b microtubule-associated protein 1B IEP protein:increased phosphorylation:spinal cord, neuron RGD PMID:17880387 RGD:2304007 NCBI chr 2:32,551,423...32,644,471
Ensembl chr 2:30,817,261...30,910,317 		JBrowse link
G Map1lc3a microtubule-associated protein 1 light chain 3 alpha treatment IEP protein:increased expression:spinal cord RGD PMID:24559459 PMID:23637053 PMID:23852559 RGD:11561918, RGD:11564330, RGD:11561922 NCBI chr 3:164,243,204...164,244,850
Ensembl chr 3:143,783,024...143,784,670 		JBrowse link
G Map1lc3b microtubule-associated protein 1 light chain 3 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:29793971 NCBI chr19:66,571,631...66,582,270
Ensembl chr19:49,665,791...49,677,690
Ensembl chr16:49,665,791...49,677,690 		JBrowse link
G Map2 microtubule-associated protein 2 IDA RGD PMID:21704982 RGD:6483323 NCBI chr 9:75,173,038...75,431,606
Ensembl chr 9:67,723,371...67,979,809 		JBrowse link
G Map3k5 mitogen-activated protein kinase kinase kinase 5 IEP protein:increased expression:white matter and grey matter: RGD PMID:10331432 RGD:10412645 NCBI chr 1:16,505,387...16,723,899
Ensembl chr 1:14,685,492...14,904,800 		JBrowse link
G Mapt microtubule-associated protein tau treatment IEP RGD PMID:22052241 RGD:8158113 NCBI chr10:89,638,618...89,736,108
Ensembl chr10:89,138,627...89,236,129 		JBrowse link
G Mdm2 MDM2 proto-oncogene IEP protein:increased expression:spinal cord RGD PMID:23595775 RGD:10412063 NCBI chr 7:55,176,558...55,201,757
Ensembl chr 7:53,290,664...53,314,915 		JBrowse link
G Met MET proto-oncogene, receptor tyrosine kinase IEP mRNA, protein:increased expression:spinal cord (rat) RGD PMID:17549731 RGD:2317487 NCBI chr 4:46,756,823...46,864,041
Ensembl chr 4:45,790,791...45,897,876 		JBrowse link
G Mfn1 mitofusin 1 treatment IEP protein:altered expression:spinal cord, mitochondrion (rat) RGD PMID:26981103 PMID:26079325 RGD:12910837, RGD:12437066 NCBI chr 2:117,240,525...117,288,017
Ensembl chr 2:115,313,401...115,359,640 		JBrowse link
G Mfn2 mitofusin 2 treatment IEP protein:increased expression:spinal cord (rat) RGD PMID:28404953 PMID:26079325 RGD:12910735, RGD:12437066 NCBI chr 5:163,587,463...163,617,363
Ensembl chr 5:158,304,287...158,335,342 		JBrowse link
G Mif macrophage migration inhibitory factor IEP mRNA:increased expression:spinal cord, microglial cell RGD PMID:15067555 RGD:1641997 NCBI chr20:12,767,138...12,791,222
Ensembl chr20:12,790,902...12,799,504
Ensembl chr 4:12,790,902...12,799,504 		JBrowse link
G Mir21 microRNA 21 exacerbates IMP RGD PMID:31102912 RGD:41410823 NCBI chr10:71,902,600...71,902,691
Ensembl chr10:71,405,257...71,405,348 		JBrowse link
G Mir214 microRNA 214 treatment IEP RGD PMID:30287503 RGD:38549580 NCBI chr13:77,121,645...77,121,752
Ensembl chr13:74,588,372...74,588,481 		JBrowse link
G Mir411 microRNA 411 IEP RGD PMID:29738767 RGD:13792580 NCBI chr 6:134,544,594...134,544,669
Ensembl chr 6:128,723,184...128,723,279 		JBrowse link
G Mir494 microRNA 494 ameliorates IDA RGD PMID:28601045 RGD:156420142 NCBI chr 6:134,550,115...134,550,197
Ensembl chr 6:128,728,709...128,728,793 		JBrowse link
G Mmp2 matrix metallopeptidase 2 treatment IEP RGD PMID:24436993 RGD:8657106 NCBI chr19:30,327,643...30,355,856
Ensembl chr19:14,154,657...14,182,870 		JBrowse link
G Mmp9 matrix metallopeptidase 9 treatment IEP RGD PMID:25763638 RGD:12791993 NCBI chr 3:174,103,474...174,111,434
Ensembl chr 3:153,683,858...153,692,120 		JBrowse link
G Mpo myeloperoxidase IEP protein:increased activity:spinal cord RGD PMID:22986158 RGD:6909148 NCBI chr10:73,092,124...73,102,057
Ensembl chr10:72,594,661...72,604,819 		JBrowse link
G Mrc1 mannose receptor, C type 1 treatment IEP RGD PMID:24968269 RGD:40924652 NCBI chr17:82,157,725...82,239,411
Ensembl chr17:77,249,187...77,330,857 		JBrowse link
G Mt-nd3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 IMP RGD PMID:20438613 RGD:5687694 NCBI chr MT:9,451...9,798
Ensembl chr MT:9,451...9,798 		JBrowse link
G Mtor mechanistic target of rapamycin kinase treatment IMP RGD PMID:20678995 RGD:10040962 NCBI chr 5:164,167,985...164,277,438
Ensembl chr 5:158,884,804...158,994,311 		JBrowse link
G Myrf myelin regulatory factor ameliorates IDA RGD PMID:27370227 RGD:213230157 NCBI chr 1:216,279,057...216,311,155
Ensembl chr 1:206,854,175...206,886,157 		JBrowse link
G Napepld N-acyl phosphatidylethanolamine phospholipase D IEP mRNA:increased expression:spinal cord RGD PMID:18930143 RGD:2316199 NCBI chr 4:14,251,591...14,291,010
Ensembl chr 4:13,361,006...13,398,748 		JBrowse link
G Ncf2 neutrophil cytosolic factor 2 IEP protein:increased expression:spinal cord RGD PMID:14644473 RGD:2314450 NCBI chr13:67,505,492...67,536,015
Ensembl chr13:64,955,503...64,986,277 		JBrowse link
G Nefh neurofilament heavy chain treatment IDA
IEP		 RGD PMID:18772508 PMID:32168135 RGD:9698443, RGD:27226888 NCBI chr14:84,044,428...84,054,413
Ensembl chr14:79,830,362...79,840,351 		JBrowse link
G Nefl neurofilament light chain treatment IDA RGD PMID:18772508 RGD:9698443 NCBI chr15:46,477,330...46,481,203
Ensembl chr15:42,301,916...42,305,793 		JBrowse link
G Nefm neurofilament medium chain treatment IDA RGD PMID:18772508 RGD:9698443 NCBI chr15:46,535,857...46,541,161
Ensembl chr15:42,360,454...42,365,755 		JBrowse link
G Nfe2l2 NFE2 like bZIP transcription factor 2 treatment IDA RGD PMID:24747453 RGD:10412730 NCBI chr 3:81,001,529...81,031,165
Ensembl chr 3:60,594,242...60,621,737 		JBrowse link
G Nfkbia NFKB inhibitor alpha treatment IEP RGD PMID:21134362 RGD:10413867 NCBI chr 6:78,593,844...78,597,307
Ensembl chr 6:72,858,712...72,861,941 		JBrowse link
G Ngf nerve growth factor IEP
IMP		 RGD PMID:16915089 PMID:12499054 RGD:5144069, RGD:5144073 NCBI chr 2:192,589,580...192,642,971
Ensembl chr 2:189,901,058...189,954,452 		JBrowse link
G Ngfr nerve growth factor receptor treatment IEP
IMP		 mRNA:increased expression:spinal cord RGD PMID:11223160 PMID:23748892 RGD:5144100, RGD:10414079 NCBI chr10:81,012,077...81,030,305
Ensembl chr10:80,515,299...80,533,518 		JBrowse link
G Nkx6-1 NK6 homeobox 1 IMP RGD PMID:18687784 RGD:2311166 NCBI chr14:8,274,238...8,281,171
Ensembl chr14:7,969,756...7,976,681 		JBrowse link
G Nlk nemo like kinase IEP protein:increased expression:grey matter: RGD PMID:24395089 RGD:12791278 NCBI chr10:63,965,432...64,089,006
Ensembl chr10:63,438,222...63,589,730 		JBrowse link
G Nog noggin treatment ISO RGD PMID:18221366 RGD:10429192 NCBI chr10:74,625,874...74,627,501
Ensembl chr10:74,128,712...74,130,339 		JBrowse link
G Nos1 nitric oxide synthase 1 IEP
IMP		 protein:increased expression:spinal cord RGD PMID:19291395 PMID:20633123 RGD:5132595, RGD:5131936 NCBI chr12:44,276,011...44,456,371
Ensembl chr12:38,626,714...38,710,945 		JBrowse link
G Nos2 nitric oxide synthase 2 IEP mRNA:altered expression:thoracic aorta RGD PMID:17287083 RGD:4891407 NCBI chr10:64,313,335...64,349,221
Ensembl chr10:63,815,308...63,851,210 		JBrowse link
G Nos3 nitric oxide synthase 3 IEP RGD PMID:17287083 RGD:4891407 NCBI chr 4:11,686,088...11,706,604
Ensembl chr 4:10,793,834...10,814,166 		JBrowse link
G Nox4 NADPH oxidase 4 IEP mRNA,protein:increased expression:gastrocnemius muscle RGD PMID:27998200 RGD:329853757 NCBI chr 1:150,313,736...150,491,480
Ensembl chr 1:140,901,097...141,077,406 		JBrowse link
G Nqo1 NAD(P)H quinone dehydrogenase 1 treatment IEP protein:increased expression:spinal cord (rat) RGD PMID:24747453 PMID:28881715 RGD:10412730, RGD:13434916 NCBI chr19:52,205,374...52,220,267
Ensembl chr19:35,295,573...35,310,557 		JBrowse link
G Nrg1 neuregulin 1 exacerbates
ameliorates		 ISO
IDA		 RGD PMID:26993800 PMID:20734425 RGD:11056189, RGD:405650600 NCBI chr16:65,954,084...67,007,484
Ensembl chr16:59,250,854...60,296,884 		JBrowse link
G Ntf3 neurotrophin 3 ISO RGD PMID:16022868 RGD:4891112 NCBI chr 4:160,601,161...160,670,623
Ensembl chr 4:158,914,957...158,984,596 		JBrowse link
G Ntf4 neurotrophin 4 IEP mRNA:decreased expression:spinal cord RGD PMID:25476166 RGD:597015775 NCBI chr 1:105,030,035...105,032,866
Ensembl chr 1:95,893,457...95,897,243 		JBrowse link
G Ntrk1 neurotrophic receptor tyrosine kinase 1 IEP mRNA:decreased expression:spinal cord RGD PMID:18585435 RGD:2308892 NCBI chr 2:175,534,844...175,551,664
Ensembl chr 2:173,236,963...173,253,770 		JBrowse link
G Ntrk2 neurotrophic receptor tyrosine kinase 2 IDA
IEP
IMP		 mRNA:altered expression:spinal cord RGD PMID:22027236 PMID:25476166 PMID:20597685 RGD:5684547, RGD:597015775, RGD:5684898 NCBI chr17:5,560,558...5,875,899
Ensembl chr17:5,559,043...5,869,136 		JBrowse link
G Ntrk3 neurotrophic receptor tyrosine kinase 3 IEP mRNA:decreased expression:spinal cord RGD PMID:18585435 RGD:2308892 NCBI chr 1:141,526,192...141,913,575
Ensembl chr 1:132,132,849...132,503,286 		JBrowse link
G Olig2 oligodendrocyte transcription factor 2 treatment ISO
IMP		 RGD PMID:28452182 PMID:22173726 RGD:40902836, RGD:40902844 NCBI chr11:43,961,585...43,964,961
Ensembl chr11:30,475,398...30,480,152 		JBrowse link
G P2rx7 purinergic receptor P2X 7 ISO CTD Direct Evidence: therapeutic CTD PMID:15258577 NCBI chr12:39,550,531...39,594,984
Ensembl chr12:33,879,745...33,934,619 		JBrowse link
G Parp1 poly (ADP-ribose) polymerase 1 IEP
ISO		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:15696051 PMID:21748659 RGD:10053608 NCBI chr13:94,839,484...94,871,295
Ensembl chr13:92,307,586...92,339,404 		JBrowse link
G Pdcd1 programmed cell death 1 treatment IEP RGD PMID:29665726 RGD:40886268 NCBI chr 9:101,866,124...101,879,278
Ensembl chr 9:94,418,791...94,431,937 		JBrowse link
G Pdcd1lg2 programmed cell death 1 ligand 2 IEP mRNA:increased expression:microglial cell RGD PMID:29665726 RGD:40886268 NCBI chr 1:236,572,497...236,637,490
Ensembl chr 1:227,158,941...227,223,938 		JBrowse link
G Pde4d phosphodiesterase 4D treatment IEP RGD PMID:24970286 RGD:407550181 NCBI chr 2:41,748,337...43,262,567
Ensembl chr 2:40,019,933...41,525,884 		JBrowse link
G Pdgfb platelet derived growth factor subunit B ISO RGD PMID:21568693 RGD:6482306 NCBI chr 7:113,419,882...113,438,343
Ensembl chr 7:111,540,345...111,557,984 		JBrowse link
G Pla2g2a phospholipase A2 group IIA ISO
IEP		 protein:increased expression:spinal cord RGD PMID:21868473 PMID:19306380 RGD:6482718, RGD:6482721 NCBI chr 5:156,359,725...156,362,302
Ensembl chr 5:151,076,442...151,079,014 		JBrowse link
G Pla2g6 phospholipase A2 group VI ISO protein:increased expression:spinal cord RGD PMID:21868473 RGD:6482718 NCBI chr 7:112,731,803...112,771,978
Ensembl chr 7:110,851,378...110,891,114 		JBrowse link
G Plau plasminogen activator, urokinase ISO RGD PMID:21573723 RGD:6483797 NCBI chr15:3,505,485...3,511,987
Ensembl chr15:3,456,232...3,462,775 		JBrowse link
G Plaur plasminogen activator, urokinase receptor ISO RGD PMID:21573723 RGD:6483797 NCBI chr 1:89,181,363...89,196,308
Ensembl chr 1:80,050,324...80,068,595 		JBrowse link
G Pon1 paraoxonase 1 treatment IDA RGD PMID:12897486 RGD:8547682 NCBI chr 4:34,261,312...34,292,327
Ensembl chr 4:33,294,722...33,321,360 		JBrowse link
G Ppard peroxisome proliferator-activated receptor delta IEP RGD PMID:20058304 RGD:2324875 NCBI chr20:6,300,527...6,365,707
Ensembl chr20:6,298,785...6,363,968 		JBrowse link
G Ppargc1a PPARG coactivator 1 alpha IDA RGD PMID:22208735 RGD:6484263 NCBI chr14:63,073,505...63,729,215
Ensembl chr14:58,861,144...59,512,656 		JBrowse link
G Ppp1cc protein phosphatase 1 catalytic subunit gamma IEP protein:increased expression:spinal cord, astrocyte, microglial cell RGD PMID:29033188 RGD:13514047 NCBI chr12:40,043,822...40,061,301
Ensembl chr12:34,383,072...34,400,553 		JBrowse link
G Ppp1r15a protein phosphatase 1, regulatory subunit 15A IEP
ISO		 mRNA:increased expression:spinal cord (rat)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:29793971 PMID:17578450 RGD:9999410 NCBI chr 1:105,136,521...105,139,596
Ensembl chr 1:96,000,058...96,003,171 		JBrowse link
G Prkcg protein kinase C, gamma ISO protein:decreased expression:spinal cord (mouse) RGD PMID:10501452 RGD:28867228 NCBI chr 1:74,748,272...74,777,611
Ensembl chr 1:65,832,855...65,859,384 		JBrowse link
G Pten phosphatase and tensin homolog IEP mRNA:increased expression:spinal cord: RGD PMID:28601045 RGD:156420142 NCBI chr 1:240,043,707...240,110,330
Ensembl chr 1:230,630,338...230,696,838 		JBrowse link
G Ptgs1 prostaglandin-endoperoxide synthase 1 IMP
IEP		 protein:increased expression:microglia, macrophage RGD PMID:17184185 PMID:11063829 RGD:5688221, RGD:5688246 NCBI chr 3:39,981,419...40,002,993
Ensembl chr 3:19,584,015...19,605,586 		JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 IEP RGD PMID:18606213 RGD:5135219 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 IDA
IEP		 RGD PMID:15016081 PMID:18065151 PMID:12895450 RGD:9589823, RGD:9590124, RGD:9590113 NCBI chr 4:52,363,006...52,560,905
Ensembl chr 4:51,397,601...51,595,218 		JBrowse link
G Rad21 RAD21 cohesin complex component treatment IEP RGD PMID:33741460 RGD:243065262 NCBI chr 7:85,177,715...85,204,657
Ensembl chr 7:83,287,870...83,314,817 		JBrowse link
G Rara retinoic acid receptor, alpha IEP RGD PMID:16420438 RGD:2314291 NCBI chr10:84,379,780...84,424,371
Ensembl chr10:83,893,384...83,928,142 		JBrowse link
G Rbmx RNA binding motif protein, X-linked IEP RGD PMID:23180094 RGD:10053723 NCBI chr  X:140,342,544...140,352,121
Ensembl chr  X:135,305,325...135,314,743 		JBrowse link
G Rela RELA proto-oncogene, NF-kB subunit IMP RGD PMID:17918744 RGD:2298849 NCBI chr 1:212,354,336...212,364,815
Ensembl chr 1:202,924,945...202,935,484 		JBrowse link
G Rgma repulsive guidance molecule BMP co-receptor a treatment IMP RGD PMID:16585268 RGD:9850138 NCBI chr 1:136,538,782...136,582,763
Ensembl chr 1:127,128,934...127,172,918 		JBrowse link
G Rhoa ras homolog family member A IEP mRNA,protein:increased expression:spinal cord: RGD PMID:27893610 RGD:243048440 NCBI chr 8:117,870,548...117,904,303
Ensembl chr 8:108,991,954...109,025,746 		JBrowse link
G Robo1 roundabout guidance receptor 1 IEP mRNA,protein:increased expression:spinal cord: RGD PMID:27893610 RGD:243048440 NCBI chr11:24,067,869...25,108,694
Ensembl chr11:10,580,908...11,620,203 		JBrowse link
G Rpsa ribosomal protein SA IEP RGD PMID:19196078 RGD:11041651 NCBI chr 8:128,728,761...128,732,736
Ensembl chr 8:119,851,225...119,855,247 		JBrowse link
G Ryr1 ryanodine receptor 1 IDA protein:hyperoxidation,hypernitrosylation:gastrocnemius muscle RGD PMID:27998200 RGD:329853757 NCBI chr 1:93,420,078...93,551,305
Ensembl chr 1:84,292,578...84,423,812 		JBrowse link
G Scn3a sodium voltage-gated channel alpha subunit 3 IDA RGD PMID:16109750 PMID:16718433 RGD:2317321, RGD:2317320 NCBI chr 3:70,554,496...70,666,198
Ensembl chr 3:50,148,139...50,258,119 		JBrowse link
G Serpinc1 serpin family C member 1 treatment ISO RGD PMID:15792522 RGD:1599333 NCBI chr13:75,790,558...75,804,826
Ensembl chr13:73,257,179...73,284,293 		JBrowse link
G Shh sonic hedgehog signaling molecule treatment IMP RGD PMID:24837681 RGD:12879409 NCBI chr 4:7,687,872...7,697,025
Ensembl chr 4:6,954,017...6,963,170 		JBrowse link
G Siah1 siah E3 ubiquitin protein ligase 1 treatment IDA RGD PMID:27256506 RGD:13792677 NCBI chr19:36,552,165...36,575,773
Ensembl chr19:20,378,439...20,403,808 		JBrowse link
G Slc25a27 solute carrier family 25, member 27 ISO protein:increased expression:spinal cord RGD PMID:18534681 RGD:6482843 NCBI chr 9:24,804,183...24,831,219
Ensembl chr 9:17,307,023...17,332,731 		JBrowse link
G Slc7a5 solute carrier family 7 member 5 IEP protein:increased expression:spinal cord RGD PMID:19388351 RGD:151361131 NCBI chr19:66,843,808...66,872,412
Ensembl chr19:49,935,220...49,963,823 		JBrowse link
G Slit1 slit guidance ligand 1 ISO RGD PMID:16262652 RGD:2316136 NCBI chr 1:250,358,917...250,507,476
Ensembl chr 1:240,409,561...240,558,127 		JBrowse link
G Slit2 slit guidance ligand 2 IEP mRNA, protein:increased expression:spinal cord
mRNA,protein:decreased expression:spinal cord:		 RGD PMID:19783284 PMID:27893610 RGD:2316127, RGD:243048440 NCBI chr14:66,829,661...67,168,517
Ensembl chr14:62,617,067...62,955,948 		JBrowse link
G Slit3 slit guidance ligand 3 ISO RGD PMID:16262652 RGD:2316136 NCBI chr10:20,075,929...20,660,704
Ensembl chr10:19,571,684...20,156,634 		JBrowse link
G Smurf1 SMAD specific E3 ubiquitin protein ligase 1 IEP protein:increased expression:spinal cord RGD PMID:23595775 RGD:10412063 NCBI chr12:14,748,717...14,840,273
Ensembl chr12:9,635,025...9,726,519 		JBrowse link
G Socs2 suppressor of cytokine signaling 2 IEP RGD PMID:11723173 RGD:2298928 NCBI chr 7:31,890,564...31,932,092
Ensembl chr 7:30,008,578...30,043,548 		JBrowse link
G Sod1 superoxide dismutase 1 treatment ISO human protein in a rat model
CTD Direct Evidence: therapeutic
human gene in a rat model		 CTD
RGD		 PMID:17457363 PMID:18722523 PMID:16689664 RGD:8655939, RGD:8655990 NCBI chr11:42,942,742...42,948,399
Ensembl chr11:29,456,558...29,462,249 		JBrowse link
G Sox2 SRY-box transcription factor 2 IEP RGD PMID:23169458 RGD:8661675 NCBI chr 2:119,465,131...119,467,542
Ensembl chr 2:117,536,929...117,539,338 		JBrowse link
G Sparc secreted protein acidic and cysteine rich ISO RGD PMID:17611274 RGD:2300052 NCBI chr10:40,017,065...40,038,816
Ensembl chr10:39,516,406...39,538,396 		JBrowse link
G Spp1 secreted phosphoprotein 1 ISO RGD PMID:15592854 RGD:6483848 NCBI chr14:5,613,569...5,620,695
Ensembl chr14:5,308,885...5,315,162 		JBrowse link
G Sqstm1 sequestosome 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29793971 NCBI chr10:35,026,598...35,037,750
Ensembl chr10:34,525,519...34,536,673 		JBrowse link
G Tacr1 tachykinin receptor 1 IMP RGD PMID:18945947 RGD:2304258 NCBI chr 4:116,478,617...116,647,492
Ensembl chr 4:114,920,844...115,089,733 		JBrowse link
G Tbp TATA box binding protein IEP protein:increased expression:spinal cord, astrocyte, microglial cell RGD PMID:24710803 RGD:9681729 NCBI chr 1:65,136,420...65,153,515
Ensembl chr 1:56,463,618...56,510,016 		JBrowse link
G Tert telomerase reverse transcriptase ISO
IEP		 mRNA, protein:increased expression:spinal cord RGD PMID:15798365 PMID:23793903 RGD:2291993, RGD:11038671 NCBI chr 1:31,465,766...31,488,650
Ensembl chr 1:29,637,506...29,659,561 		JBrowse link
G Tgfb1 transforming growth factor, beta 1 IMP RGD PMID:15145083 RGD:2302103 NCBI chr 1:90,324,312...90,340,627
Ensembl chr 1:81,196,532...81,212,847 		JBrowse link
G Tgfb2 transforming growth factor, beta 2 IMP RGD PMID:15145083 RGD:2302103 NCBI chr13:100,691,540...100,793,227
Ensembl chr13:98,160,087...98,261,405 		JBrowse link
G Thbd thrombomodulin ISO RGD PMID:15307903 RGD:1580060 NCBI chr 3:156,316,526...156,320,178
Ensembl chr 3:135,862,835...135,867,193 		JBrowse link
G Thbs1 thrombospondin 1 IEP protein:increased expression:spinal cord RGD PMID:19719963 RGD:2317939 NCBI chr 3:125,510,250...125,525,402
Ensembl chr 3:105,056,292...105,071,440 		JBrowse link
G Tlr1 toll-like receptor 1 treatment ISO mRNA:increased expression:spinal cord (mouse) RGD PMID:21970496 PMID:21970496 RGD:7246886, RGD:7246886 NCBI chr14:43,737,761...43,750,389
Ensembl chr14:43,384,932...43,397,125 		JBrowse link
G Tlr2 toll-like receptor 2 treatment IEP RGD PMID:24966901 RGD:597538512 NCBI chr 2:171,499,189...171,504,831
Ensembl chr 2:169,197,419...169,206,630 		JBrowse link
G Tlr4 toll-like receptor 4 severity ISO RGD PMID:25990044 RGD:14700556 NCBI chr 5:85,161,247...85,174,882
Ensembl chr 5:80,145,826...80,159,628 		JBrowse link
G Tnc tenascin C IEP mRNA:increased expression:spinal cord RGD PMID:11085900 RGD:4889619 NCBI chr 5:82,391,340...82,476,197
Ensembl chr 5:77,375,851...77,460,624 		JBrowse link
G Tnf tumor necrosis factor IMP RGD PMID:20633123 RGD:5131936 NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,622,011...3,624,629 		JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A IEP protein:increased expression:cerebrospinal fluid RGD PMID:16083358 RGD:1624185 NCBI chr 4:159,837,119...159,849,817
Ensembl chr 4:158,150,820...158,163,591 		JBrowse link
G Tp53 tumor protein p53 IEP protein:increased expression:spinal cord RGD PMID:23595775 RGD:10412063 NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,300,048...54,311,524 		JBrowse link
G Traf7 TNF receptor associated factor 7 IEP mRNA, protein:increased expression:spinal cord RGD PMID:30100091 RGD:151356968 NCBI chr10:14,038,117...14,056,832
Ensembl chr10:13,533,570...13,552,203 		JBrowse link
G Trpa1 transient receptor potential cation channel, subfamily A, member 1 IEP mRNA,protein:increased expression:urinary bladder, dorsal root ganglion: RGD PMID:21367919 RGD:10043365 NCBI chr 5:9,163,060...9,217,325
Ensembl chr 5:4,379,999...4,433,570 		JBrowse link
G Trpm4 transient receptor potential cation channel, subfamily M, member 4 treatment IEP RGD PMID:19169264 PMID:25763638 RGD:10003030, RGD:12791993 NCBI chr 1:104,918,462...104,949,453
Ensembl chr 1:95,782,000...95,812,532 		JBrowse link
G Tug1 taurine up-regulated 1 treatment IEP RGD PMID:30287503 RGD:38549580 NCBI chr14:82,743,501...82,750,534
Ensembl chr14:78,522,506...78,526,927 		JBrowse link
G Ulk1 unc-51 like autophagy activating kinase 1 IEP protein:increased expression:neuron, axon RGD PMID:25040536 RGD:11553820 NCBI chr12:51,511,492...51,537,746
Ensembl chr12:45,851,710...45,877,966 		JBrowse link
G Vegfa vascular endothelial growth factor A IEP
ISO		 protein:increased expression:spinal cord
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:21092735 PMID:21092735 RGD:5148013 NCBI chr 9:22,452,854...22,468,194
Ensembl chr 9:14,955,300...14,970,641 		JBrowse link
G Vhl von Hippel-Lindau tumor suppressor IDA RGD PMID:20125055 RGD:2325181 NCBI chr 4:148,328,099...148,334,992
Ensembl chr 4:146,772,468...146,779,377 		JBrowse link
G Vim vimentin ISO
IEP		 protein:increased expression:spinal cord RGD PMID:10225952 PMID:21250919 RGD:6480471, RGD:6480511 NCBI chr17:81,577,261...81,585,746
Ensembl chr17:76,668,647...76,677,187 		JBrowse link
G Vwf von Willebrand factor IEP RGD PMID:25771801 RGD:13673888 NCBI chr 4:160,042,900...160,177,757
Ensembl chr 4:158,360,152...158,491,539 		JBrowse link
G Xbp1 X-box binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29793971 NCBI chr14:84,604,623...84,609,707
Ensembl chr14:80,390,643...80,395,693 		JBrowse link
G Xdh xanthine dehydrogenase IEP protein:increased expression:spinal cord RGD PMID:1649310 RGD:13209021 NCBI chr 6:27,282,319...27,344,022
Ensembl chr 6:21,530,113...21,592,268 		JBrowse link
G Xylt1 xylosyltransferase 1 IMP RGD PMID:18765417 RGD:2313145 NCBI chr 1:181,078,222...181,361,047
Ensembl chr 1:171,643,925...171,926,783 		JBrowse link
Spinal Cord Ischemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Btg2 BTG anti-proliferation factor 2 IEP RGD PMID:14697320 RGD:2289074 NCBI chr13:48,083,931...48,087,690
Ensembl chr13:45,531,925...45,535,628 		JBrowse link
G Mir320a microRNA 320a treatment IMP RGD PMID:26092503 RGD:155882555 NCBI chr15:51,926,088...51,926,169
Ensembl chr15:45,516,392...45,516,473 		JBrowse link
G Parp1 poly (ADP-ribose) polymerase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15696051 NCBI chr13:94,839,484...94,871,295
Ensembl chr13:92,307,586...92,339,404 		JBrowse link
Spinal Cord Reperfusion Injury term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bad BCL2-associated agonist of cell death treatment IDA RGD PMID:23643992 RGD:10053660 NCBI chr 1:213,562,719...213,572,034
Ensembl chr 1:204,131,501...204,142,823 		JBrowse link
G Bdnf brain-derived neurotrophic factor treatment IEP RGD PMID:24361987 RGD:10059358 NCBI chr 3:116,619,633...116,670,212
Ensembl chr 3:96,165,042...96,215,615 		JBrowse link
G Becn1 beclin 1 treatment IEP RGD PMID:25374587 RGD:11561952 NCBI chr10:86,731,649...86,747,002
Ensembl chr10:86,231,388...86,246,742 		JBrowse link
G Cdk5 cyclin-dependent kinase 5 treatment IDA RGD PMID:25301568 RGD:13782374 NCBI chr 4:11,647,098...11,651,606
Ensembl chr 4:10,754,687...10,760,112 		JBrowse link
G Cdk5r1 cyclin-dependent kinase 5 regulatory subunit 1 treatment IEP RGD PMID:25301568 RGD:13782374 NCBI chr10:65,981,692...65,985,831
Ensembl chr10:65,483,941...65,488,456 		JBrowse link
G Creb1 cAMP responsive element binding protein 1 treatment IEP RGD PMID:17368520 PMID:29310813 RGD:155226865, RGD:155226868 NCBI chr 9:73,397,333...73,466,339
Ensembl chr 9:65,903,547...65,970,816 		JBrowse link
G Cxcl12 C-X-C motif chemokine ligand 12 IMP RGD PMID:27760212 RGD:12910551 NCBI chr 4:152,060,781...152,073,628
Ensembl chr 4:150,388,325...150,401,168 		JBrowse link
G Cxcr4 C-X-C motif chemokine receptor 4 IMP RGD PMID:27760212 RGD:12910551 NCBI chr13:42,630,383...42,634,288
Ensembl chr13:40,077,976...40,081,883 		JBrowse link
G Gapdh glyceraldehyde-3-phosphate dehydrogenase treatment IEP RGD PMID:30195603 RGD:13792615 NCBI chr 4:159,648,592...159,653,436
Ensembl chr 4:157,962,343...157,966,235 		JBrowse link
G Hspa5 heat shock protein family A (Hsp70) member 5 treatment IEP protein:increased expression:spinal cord: RGD PMID:24463125 RGD:11354961 NCBI chr 3:38,453,016...38,457,475
Ensembl chr 3:18,055,405...18,059,891 		JBrowse link
G Proc protein C, inactivator of coagulation factors Va and VIIIa treatment ISO RGD PMID:10903607 RGD:11100044 NCBI chr18:24,038,596...24,049,061
Ensembl chr18:23,764,368...23,775,133 		JBrowse link
G Siah1 siah E3 ubiquitin protein ligase 1 treatment IEP RGD PMID:30195603 RGD:13792615 NCBI chr19:36,552,165...36,575,773
Ensembl chr19:20,378,439...20,403,808 		JBrowse link
G Tlr4 toll-like receptor 4 IMP RGD PMID:27760212 RGD:12910551 NCBI chr 5:85,161,247...85,174,882
Ensembl chr 5:80,145,826...80,159,628 		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
Spinocerebellar Ataxia 27A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgf14 fibroblast growth factor 14 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia 27A OMIM
ClinVar		 PMID:12489043 PMID:15470364 PMID:17978045 PMID:25566820 PMID:25741868 More... NCBI chr15:107,442,800...108,086,486
Ensembl chr15:101,045,036...101,679,900 		JBrowse link
Spinocerebellar Ataxia 27B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgf14 fibroblast growth factor 14 ISO OMIM NCBI chr15:107,442,800...108,086,486
Ensembl chr15:101,045,036...101,679,900 		JBrowse link
Spinocerebellar Ataxia 42, Early-Onset, Severe, with Neurodevelopmental Deficits term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacna1g calcium voltage-gated channel subunit alpha1 G ISO ClinVar Annotator: match by term: CACNA1G-related condition | ClinVar Annotator: match by term: Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits OMIM
ClinVar		 PMID:25741868 PMID:26456284 PMID:26715324 PMID:28490766 PMID:28492532 More... NCBI chr10:79,851,886...79,919,926
Ensembl chr10:79,355,008...79,422,752 		JBrowse link
spinocerebellar ataxia 44 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Grm1 glutamate metabotropic receptor 1 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia 44 OMIM
ClinVar		 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28886343 PMID:35401678 NCBI chr 1:6,878,542...7,273,447
Ensembl chr 1:5,058,292...5,453,170 		JBrowse link
spinocerebellar ataxia 45 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdh1 cadherin 1 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia 45 ClinVar PMID:25741868 NCBI chr19:51,402,178...51,471,572
Ensembl chr19:34,492,371...34,561,775 		JBrowse link
G Fat2 FAT atypical cadherin 2 ISO ClinVar Annotator: match by term: FAT2-related condition | ClinVar Annotator: match by term: Spinocerebellar ataxia 45 OMIM
ClinVar		 PMID:20301317 PMID:25741868 PMID:28492532 PMID:29053796 PMID:29847346 NCBI chr10:39,864,765...39,957,027
Ensembl chr10:39,364,073...39,456,216 		JBrowse link
G Fh fumarate hydratase ISO ClinVar Annotator: match by term: Spinocerebellar ataxia 45 ClinVar PMID:11865300 PMID:12772087 PMID:15937070 PMID:15987702 PMID:16151915 More... NCBI chr13:90,056,565...90,082,450
Ensembl chr13:87,524,337...87,550,266 		JBrowse link
G Slc36a1 solute carrier family 36 member 1 ISO ClinVar Annotator: match by term: FAT2-related condition | ClinVar Annotator: match by term: Spinocerebellar ataxia 45 ClinVar PMID:20301317 PMID:25741868 PMID:28492532 PMID:29053796 PMID:29847346 NCBI chr10:39,819,753...39,858,068
Ensembl chr10:39,324,337...39,354,217 		JBrowse link
spinocerebellar ataxia 46 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pld3 phospholipase D family, member 3 ISO ClinVar Annotator: match by term: PLD3-related condition | ClinVar Annotator: match by term: Spinocerebellar ataxia 46 OMIM
ClinVar		 PMID:8595484 PMID:15197604 PMID:15469949 PMID:16770524 PMID:22847150 More... NCBI chr 1:91,949,465...91,971,834
Ensembl chr 1:82,821,875...82,844,072 		JBrowse link
G Prx periaxin ISO ClinVar Annotator: match by term: Spinocerebellar ataxia 46 ClinVar PMID:15197604 PMID:15469949 PMID:16770524 PMID:22847150 PMID:24011642 More... NCBI chr 1:91,912,669...91,934,754
Ensembl chr 1:82,786,815...82,807,407 		JBrowse link
Spinocerebellar Ataxia 49 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Samd9l sterile alpha motif domain containing 9 like ISO ClinVar Annotator: match by term: Spinocerebellar ataxia 49 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29146900 PMID:30322869 PMID:35310830 More... NCBI chr 4:32,316,748...32,331,112
Ensembl chr 4:31,361,669...31,376,415 		JBrowse link
Spinocerebellar Ataxia 50 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nptx1 neuronal pentraxin 1 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia 50 OMIM
ClinVar		 PMID:25741868 PMID:34788392 PMID:35285082 PMID:35288776 PMID:35560436 NCBI chr10:105,309,578...105,318,829
Ensembl chr10:104,811,403...104,820,367 		JBrowse link
Spinocerebellar Ataxia 51 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Thap11 THAP domain containing 11 ISO OMIM NCBI chr19:50,656,839...50,658,656
Ensembl chr19:33,746,854...33,749,540 		JBrowse link
Spinocerebellar Ataxia and Plaque-Like Deposits term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prnp prion protein ISO ClinVar Annotator: match by term: Spinocerebellar ataxia and plaque-like deposits ClinVar PMID:1351274 PMID:1353341 PMID:1363810 PMID:1404799 PMID:1469441 More... NCBI chr 3:139,639,076...139,654,420
Ensembl chr 3:119,177,485...119,203,937 		JBrowse link
spinocerebellar ataxia type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atxn1 ataxin 1 ISO
ISS		 ClinVar Annotator: match by term: ATXN1-related condition | ClinVar Annotator: match by term: SCHUT-HAYMAKER TYPE OPCA | ClinVar Annotator: match by term: Spinocerebellar ataxia type 1
OMIM:164400		 OMIM
ClinVar
MouseDO		 PMID:25741868 PMID:37091313 NCBI chr17:18,943,397...19,354,751
Ensembl chr17:18,737,533...19,142,360 		JBrowse link
spinocerebellar ataxia type 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atxn10 ataxin 10 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Spinocerebellar ataxia type 10		 OMIM
CTD
ClinVar		 PMID:25741868 NCBI chr 7:118,321,516...118,444,967
Ensembl chr 7:116,441,613...116,565,087 		JBrowse link
spinocerebellar ataxia type 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ttbk2 tau tubulin kinase 2 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia type 11 | ClinVar Annotator: match by term: TTBK2-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:18037885 PMID:19533200 PMID:20301723 PMID:20667868 PMID:22073189 More... NCBI chr 3:128,144,851...128,256,630
Ensembl chr 3:107,697,340...107,803,223 		JBrowse link
spinocerebellar ataxia type 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ppp2r2b protein phosphatase 2, regulatory subunit B, beta ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: PPP2R2B-related disorder | ClinVar Annotator: match by term: Spinocerebellar ataxia type 12		 OMIM
CTD
ClinVar		 PMID:25741868 NCBI chr18:34,904,686...35,357,299
Ensembl chr18:34,653,721...35,081,025 		JBrowse link
spinocerebellar ataxia type 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnc3 potassium voltage-gated channel subfamily C member 3 ISO ClinVar Annotator: match by term: KCNC3-related condition | ClinVar Annotator: match by term: Spinocerebellar ataxia type 13
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:10820125 PMID:16135769 PMID:16501573 PMID:18592334 PMID:19953606 More... NCBI chr 1:104,217,472...104,231,677
Ensembl chr 1:95,080,960...95,095,160 		JBrowse link
spinocerebellar ataxia type 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prkcg protein kinase C, gamma ISO
ISS		 ClinVar Annotator: match by term: PRKCG-related condition | ClinVar Annotator: match by term: Spinocerebellar ataxia type 14
OMIM:605361
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:9545390 PMID:12164726 PMID:12644968 PMID:14676051 PMID:14694043 More... NCBI chr 1:74,748,272...74,777,611
Ensembl chr 1:65,832,855...65,859,384 		JBrowse link
spinocerebellar ataxia type 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Itpr1 inositol 1,4,5-trisphosphate receptor, type 1 ISO DNA:deletions:multiple (human)
ClinVar Annotator: match by term: Spinocerebellar Ataxia Type 15 | ClinVar Annotator: match by term: Spinocerebellar ataxia type 15/16
CTD Direct Evidence: marker/mechanism
DNA:deletions:exons, introns:g.4498593_4736400del, 4409618_4851975del (human)		 ClinVar
CTD
OMIM
RGD		 PMID:10664581 PMID:12824425 PMID:14981189 PMID:15623688 PMID:17932120 More... RGD:6480683, RGD:6480871 NCBI chr 4:142,743,401...143,066,505
Ensembl chr 4:141,187,418...141,510,491 		JBrowse link
G Rubcn rubicon autophagy regulator ISO ClinVar Annotator: match by term: Spinocerebellar ataxia type 15/16 ClinVar PMID:25741868 NCBI chr11:81,420,261...81,469,415
Ensembl chr11:67,907,516...67,964,314 		JBrowse link
G Setmar SET domain and mariner transposase fusion gene ISO ClinVar Annotator: match by term: Spinocerebellar ataxia type 15/16 ClinVar PMID:17932120 PMID:20669319 PMID:21681106 NCBI chr 4:142,602,066...142,614,208
Ensembl chr 4:141,046,069...141,058,197 		JBrowse link
spinocerebellar ataxia type 17 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp5f1b ATP synthase F1 subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413982 NCBI chr 7:1,100,058...1,106,461
Ensembl chr 7:515,460...567,273 		JBrowse link
G Hmox1 heme oxygenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413982 NCBI chr19:13,452,365...13,479,823
Ensembl chr19:13,467,244...13,474,079 		JBrowse link
G Hspa5 heat shock protein family A (Hsp70) member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413982 NCBI chr 3:38,453,016...38,457,475
Ensembl chr 3:18,055,405...18,059,891 		JBrowse link
G Hspa8 heat shock protein family A (Hsp70) member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413982 NCBI chr 8:50,080,514...50,084,376
Ensembl chr 8:41,183,264...41,187,259 		JBrowse link
G Hyou1 hypoxia up-regulated 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413982 NCBI chr 8:53,602,882...53,614,998
Ensembl chr 8:44,706,263...44,718,186 		JBrowse link
G Nqo1 NAD(P)H quinone dehydrogenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413982 NCBI chr19:52,205,374...52,220,267
Ensembl chr19:35,295,573...35,310,557 		JBrowse link
G P4hb prolyl 4-hydroxylase subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413982 NCBI chr10:106,335,300...106,346,911
Ensembl chr10:105,836,982...105,848,500 		JBrowse link
G Pdia3 protein disulfide isomerase family A, member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413982 NCBI chr 3:128,841,781...128,865,733
Ensembl chr 3:108,388,245...108,413,236 		JBrowse link
G Tbp TATA box binding protein ISO
ISS		 OMIM:607136
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Spinocerebellar ataxia type 17		 OMIM
MouseDO
CTD
ClinVar
RGD		 PMID:25741868 PMID:23699518 RGD:9681730 NCBI chr 1:65,136,420...65,153,515
Ensembl chr 1:56,463,618...56,510,016 		JBrowse link
spinocerebellar ataxia type 19/22 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eef2 eukaryotic translation elongation factor 2 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia type 19/22 ClinVar PMID:25741868 NCBI chr 7:9,183,836...9,196,255
Ensembl chr 7:8,533,116...8,559,183 		JBrowse link
G Kcnd3 potassium voltage-gated channel subfamily D member 3 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia type 19/22
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:11284128 PMID:11310586 PMID:15563876 PMID:17576681 More... NCBI chr 2:195,626,316...195,843,690
Ensembl chr 2:192,937,950...193,155,345 		JBrowse link
G Lama4 laminin subunit alpha 4 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia type 19/22 ClinVar PMID:25741868 PMID:28492532 NCBI chr20:43,946,898...44,087,972
Ensembl chr20:42,392,268...42,533,347 		JBrowse link
spinocerebellar ataxia type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atxn2 ataxin 2 ISO
ISS		 ClinVar Annotator: match by term: Spinocerebellar ataxia type 2
OMIM:183090		 ClinVar
OMIM
MouseDO		 PMID:25741868 NCBI chr12:40,413,657...40,509,895
Ensembl chr12:34,754,137...34,851,479 		JBrowse link
spinocerebellar ataxia type 21 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmem240 transmembrane protein 240 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia type 21 | ClinVar Annotator: match by term: TMEM240-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:11160961 PMID:25070513 PMID:25741868 PMID:28492532 PMID:30522958 More... NCBI chr 5:171,625,830...171,653,836
Ensembl chr 5:166,344,386...166,350,636 		JBrowse link
spinocerebellar ataxia type 23 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pdyn prodynorphin ISO ClinVar Annotator: match by term: PDYN-related condition | ClinVar Annotator: match by term: Spinocerebellar ataxia type 23
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:21035104 PMID:22243190 PMID:22287014 PMID:23108490 PMID:23355175 More... NCBI chr 3:137,354,161...137,366,503
Ensembl chr 3:116,900,992...116,913,334 		JBrowse link
spinocerebellar ataxia type 25 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pnpt1 polyribonucleotide nucleotidyltransferase 1 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia type 25
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:11080643 PMID:14705117 PMID:24088041 PMID:25326635 PMID:25457163 More... NCBI chr14:107,078,486...107,109,628
Ensembl chr14:102,877,553...102,908,696 		JBrowse link
spinocerebellar ataxia type 26 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eef2 eukaryotic translation elongation factor 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Spinocerebellar ataxia type 26		 OMIM
CTD
ClinVar		 PMID:15732118 PMID:23001565 PMID:25741868 PMID:26467025 PMID:28492532 More... NCBI chr 7:9,183,836...9,196,255
Ensembl chr 7:8,533,116...8,559,183 		JBrowse link
spinocerebellar ataxia type 27 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgf14 fibroblast growth factor 14 ISO
ISS		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: FGF14-related condition | ClinVar Annotator: match by term: Spinocerebellar ataxia type 27
OMIM:193003		 CTD
ClinVar
MouseDO		 PMID:5470364 PMID:12489043 PMID:15470364 PMID:21681106 PMID:25741868 More... NCBI chr15:107,442,800...108,086,486
Ensembl chr15:101,045,036...101,679,900 		JBrowse link
G Itgbl1 integrin subunit beta like 1 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia type 27 ClinVar PMID:25741868 NCBI chr15:107,186,792...107,448,335
Ensembl chr15:100,780,184...101,041,733 		JBrowse link
spinocerebellar ataxia type 28 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Afg3l2 AFG3 like matrix AAA peptidase subunit 2 ISO
ISS		 ClinVar Annotator: match by term: Spinocerebellar ataxia type 28
OMIM:610246
CTD Direct Evidence: marker/mechanism
DNA:deletion
DNA:missense mutation:exon:p.P688T (c.2062C>A) (human)
DNA:missense mutation:exon:p.E700K (c.2098G>A) (human)
DNA:missense mutations: :multiple
DNA:missense mutations:exon:p.M666V (c.1996A>G), p.G671R (c.2011G>A) (human)		 OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:16251216 PMID:20208537 PMID:20354562 PMID:20725928 PMID:23777634 More... RGD:11534993, RGD:11532678, RGD:11532675, RGD:11532674, RGD:11532673, RGD:11532671 NCBI chr18:63,224,163...63,269,000
Ensembl chr18:60,954,268...60,999,110 		JBrowse link
G Tubb6 tubulin, beta 6 class V ISO ClinVar Annotator: match by term: Spinocerebellar ataxia type 28 ClinVar PMID:25741868 PMID:26467025 PMID:27165006 PMID:28492532 NCBI chr18:63,213,287...63,222,926
Ensembl chr18:60,943,375...60,954,418 		JBrowse link
spinocerebellar ataxia type 29 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Itpr1 inositol 1,4,5-trisphosphate receptor, type 1 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia type 29
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:10664581 PMID:12824425 PMID:15623688 PMID:22986007 PMID:23315928 More... NCBI chr 4:142,743,401...143,066,505
Ensembl chr 4:141,187,418...141,510,491 		JBrowse link
spinocerebellar ataxia type 31 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bean1 brain expressed, associated with NEDD4, 1 ISO ClinVar Annotator: match by term: BEAN1-related condition | ClinVar Annotator: match by term: Spinocerebellar ataxia type 31
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:19878914 NCBI chr19:745,993...792,853
Ensembl chr19:739,551...787,537 		JBrowse link
G Plekhg4 pleckstrin homology and RhoGEF domain containing G4 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia type 31 ClinVar PMID:16001362 PMID:16614795 PMID:16780885 NCBI chr19:50,161,722...50,176,491
Ensembl chr19:33,249,706...33,266,357 		JBrowse link
spinocerebellar ataxia type 34 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Elovl4 ELOVL fatty acid elongase 4 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia type 34 OMIM
ClinVar		 PMID:5048218 PMID:24566826 PMID:25741868 PMID:26010696 PMID:28492532 More... NCBI chr 8:93,582,930...93,609,479
Ensembl chr 8:84,702,362...84,729,697 		JBrowse link
spinocerebellar ataxia type 35 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tgm6 transglutaminase 6 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia type 35 | ClinVar Annotator: match by term: TGM6-related condition OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:21106500 PMID:21907015 PMID:22162184 More... NCBI chr 3:137,771,368...137,809,000
Ensembl chr 3:117,321,489...117,354,734 		JBrowse link
spinocerebellar ataxia type 36 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nop56 NOP56 ribonucleoprotein ISO ClinVar Annotator: match by term: Spinocerebellar ataxia type 36 OMIM
ClinVar		 PMID:25741868 NCBI chr 3:137,926,187...137,934,971
Ensembl chr 3:117,477,053...117,481,841 		JBrowse link
spinocerebellar ataxia type 37 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dab1 DAB adaptor protein 1 ISO ClinVar Annotator: match by term: DAB1-related condition | ClinVar Annotator: match by term: Spinocerebellar ataxia type 37 OMIM
ClinVar		 PMID:23700170 PMID:25741868 PMID:28492532 PMID:28686858 PMID:29939198 NCBI chr 5:123,621,510...124,742,585
Ensembl chr 5:119,140,533...119,510,552 		JBrowse link
spinocerebellar ataxia type 38 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Elovl5 ELOVL fatty acid elongase 5 ISO ClinVar Annotator: match by term: ELOVL5-related condition | ClinVar Annotator: match by term: Spinocerebellar ataxia type 38 OMIM
ClinVar		 PMID:25065913 PMID:25741868 PMID:28492532 PMID:31294938 NCBI chr 8:87,671,164...87,737,618
Ensembl chr 8:78,790,846...78,857,284 		JBrowse link
spinocerebellar ataxia type 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vps13d vacuolar protein sorting 13 homolog D ISO ClinVar Annotator: match by term: Spinocerebellar ataxia type 4 ClinVar PMID:25741868 PMID:35151251 NCBI chr 5:162,113,732...162,339,121
Ensembl chr 5:156,830,512...157,055,891 		JBrowse link
G Zfhx3 zinc finger homeobox 3 ISO OMIM NCBI chr19:52,789,146...53,795,664
Ensembl chr19:36,630,254...36,881,771 		JBrowse link
spinocerebellar ataxia type 40 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc88c coiled-coil domain containing 88C ISO ClinVar Annotator: match by term: Spinocerebellar ataxia type 40 OMIM
ClinVar		 PMID:18414213 PMID:23042809 PMID:25062847 PMID:25741868 PMID:26467025 More... NCBI chr 6:125,899,337...126,019,162
Ensembl chr 6:120,169,738...120,289,555 		JBrowse link
spinocerebellar ataxia type 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sptbn2 spectrin, beta, non-erythrocytic 2 ISO
ISS		 ClinVar Annotator: match by term: Spinocerebellar ataxia type 5
OMIM:600224		 OMIM
ClinVar
MouseDO		 PMID:16429157 PMID:20368622 PMID:20603325 PMID:22843192 PMID:22914369 More... NCBI chr 1:211,432,373...211,473,016
Ensembl chr 1:202,002,970...202,044,283 		JBrowse link
spinocerebellar ataxia type 6 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
ISS		 ClinVar Annotator: match by term: Spinocerebellar ataxia type 6
OMIM:183086		 OMIM
ClinVar
MouseDO		 PMID:8898206 PMID:9329229 PMID:9345107 PMID:10371528 PMID:10408534 More... NCBI chr19:40,425,560...40,724,810
Ensembl chr19:23,520,741...23,823,225 		JBrowse link
spinocerebellar ataxia type 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atxn7 ataxin 7 ISO
ISS		 OMIM:164500
ClinVar Annotator: match by term: ATXN7-related condition | ClinVar Annotator: match by term: Spinocerebellar ataxia 7		 OMIM
MouseDO
ClinVar		 PMID:25741868 NCBI chr15:13,547,859...13,693,311
Ensembl chr15:11,118,886...11,263,106 		JBrowse link
spinocerebellar ataxia with axonal neuropathy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tdp1 tyrosyl-DNA phosphodiesterase 1 ISO
ISS		 ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 | ClinVar Annotator: match by term: TDP1-related condition
OMIM:607250
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:12244316 PMID:12470949 PMID:15111055 PMID:15920477 PMID:16141202 More... NCBI chr 6:124,892,821...124,960,646
Ensembl chr 6:119,163,166...119,231,021 		JBrowse link
spinocerebellar ataxia with axonal neuropathy 2 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: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 ClinVar PMID:24033266 PMID:25741868 PMID:26285866 PMID:26467025 PMID:28492532 NCBI chr 5:60,593,338...60,618,946
Ensembl chr 5:55,800,248...55,822,855 		JBrowse link
G Setx senataxin ISO ClinVar Annotator: match by term: SETX-related disorder | ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
ClinVar Annotator: match by term: Ataxia with Oculomotor Apraxia | ClinVar Annotator: match by term: SETX-related disorder | ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
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
G Trpv4 transient receptor potential cation channel, subfamily V, member 4 ISO ClinVar Annotator: match by term: Ataxia with Oculomotor Apraxia ClinVar PMID:25326637 PMID:25741868 NCBI chr12:47,599,161...47,638,143
Ensembl chr12:41,938,560...41,977,517 		JBrowse link
spinocerebellar ataxia with axonal neuropathy type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Coa7 cytochrome c oxidase assembly factor 7 ISO ClinVar Annotator: match by term: COA7-related condition | ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 OMIM
ClinVar		 PMID:25741868 PMID:27683825 PMID:28492532 PMID:29718187 PMID:30885959 NCBI chr 5:123,069,356...123,080,942
Ensembl chr 5:123,069,371...123,080,199 		JBrowse link
Spinocerebellar Ataxia with Epilepsy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Polg DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: Spinocerebellar ataxia with epilepsy ClinVar PMID:632821 PMID:1582434 PMID:11431686 PMID:11571332 PMID:12565911 More... NCBI chr 1:142,792,119...142,808,933
Ensembl chr 1:133,382,766...133,398,567 		JBrowse link
Spinocerebellar Ataxias term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Afg3l2 AFG3 like matrix AAA peptidase subunit 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Spinocerebellar Ataxia, Dominant		 CTD
ClinVar		 PMID:20208537 PMID:26467025 PMID:28492532 NCBI chr18:63,224,163...63,269,000
Ensembl chr18:60,954,268...60,999,110 		JBrowse link
G Ano10 anoctamin 10 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Spinocerebellar Ataxia, Recessive		 CTD
ClinVar		 PMID:24033266 PMID:25089919 PMID:25133958 PMID:25182700 PMID:25664549 More... NCBI chr 8:130,719,177...130,838,243
Ensembl chr 8:121,841,665...121,962,670 		JBrowse link
G Atxn1 ataxin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11719269 PMID:16122429 PMID:17322884 PMID:18337722 NCBI chr17:18,943,397...19,354,751
Ensembl chr17:18,737,533...19,142,360 		JBrowse link
G Atxn10 ataxin 10 susceptibility ISO RGD PMID:11017075 RGD:1599410 NCBI chr 7:118,321,516...118,444,967
Ensembl chr 7:116,441,613...116,565,087 		JBrowse link
G Atxn1l ataxin 1 like ISO CTD Direct Evidence: therapeutic CTD PMID:17322884 NCBI chr19:54,609,852...54,621,024
Ensembl chr19:37,700,106...37,711,538 		JBrowse link
G Atxn2 ataxin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19224595 PMID:20065139 NCBI chr12:40,413,657...40,509,895
Ensembl chr12:34,754,137...34,851,479 		JBrowse link
G Atxn7 ataxin 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25664129 NCBI chr15:13,547,859...13,693,311
Ensembl chr15:11,118,886...11,263,106 		JBrowse link
G Cacna1a calcium voltage-gated channel subunit alpha1 A onset ISO DNA:repeats:cds:
CTD Direct Evidence: marker/mechanism
protein:altered expression:Purkinje cell:		 CTD
RGD		 PMID:11985388 PMID:16899342 PMID:10945665 PMID:8988170 PMID:10369863 RGD:1358570, RGD:10054466, RGD:10054421 NCBI chr19:40,425,560...40,724,810
Ensembl chr19:23,520,741...23,823,225 		JBrowse link
G Cacna1g calcium voltage-gated channel subunit alpha1 G ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:79,851,886...79,919,926
Ensembl chr10:79,355,008...79,422,752 		JBrowse link
G Capn1 calpain 1 ISO Ataxia, spinocerebellar, CAPN1-related OMIA PMID:2061870 PMID:4747697 PMID:15320590 PMID:22634896 PMID:22872628 More... NCBI chr 1:212,705,219...212,736,134
Ensembl chr 1:203,277,344...203,300,177 		JBrowse link
G Casp7 caspase 7 ISO RGD PMID:17646170 RGD:5684537 NCBI chr 1:265,442,647...265,481,938
Ensembl chr 1:255,437,172...255,476,729 		JBrowse link
G Ccdc88c coiled-coil domain containing 88C ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 6:125,899,337...126,019,162
Ensembl chr 6:120,169,738...120,289,555 		JBrowse link
G Cic capicua transcriptional repressor ISO CTD Direct Evidence: marker/mechanism CTD PMID:18337722 NCBI chr 1:89,980,660...90,008,357
Ensembl chr 1:80,853,920...80,880,532 		JBrowse link
G Coq8a coenzyme Q8A ISO ClinVar Annotator: match by term: Spinocerebellar Ataxia, Recessive ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:29482223 NCBI chr13:94,436,680...94,465,535
Ensembl chr13:91,904,739...91,931,431 		JBrowse link
G Cwf19l1 CWF19 like cell cycle control factor 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:242,997,720...243,020,989
Ensembl chr 1:242,997,726...243,020,961 		JBrowse link
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Spinocerebellar Ataxia, Dominant ClinVar PMID:18414213 PMID:24033266 PMID:25741868 PMID:26344056 PMID:26467025 More... NCBI chr 6:135,436,375...135,502,117
Ensembl chr 6:129,609,397...129,680,883 		JBrowse link
G Elovl5 ELOVL fatty acid elongase 5 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:87,671,164...87,737,618
Ensembl chr 8:78,790,846...78,857,284 		JBrowse link
G Ep300 E1A binding protein p300 ISO ClinVar Annotator: match by term: Spinocerebellar Ataxia, Dominant ClinVar PMID:28492532 PMID:35401678 NCBI chr 7:114,987,857...115,058,652
Ensembl chr 7:113,106,247...113,136,088
Ensembl chr 7:113,106,247...113,136,088 		JBrowse link
G Fat1 FAT atypical cadherin 1 ISO ClinVar Annotator: match by term: Spinocerebellar Ataxia, Dominant ClinVar PMID:28492532 NCBI chr16:53,909,759...54,029,175
Ensembl chr16:47,177,248...47,296,107 		JBrowse link
G Foxc1 forkhead box C1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19668217 NCBI chr17:32,840,119...32,844,100
Ensembl chr17:32,633,142...32,634,803 		JBrowse link
G Gfi1 growth factor independent 1 transcriptional repressor ISO CTD Direct Evidence: marker/mechanism CTD PMID:16122429 NCBI chr14:2,185,489...2,204,191
Ensembl chr14:2,042,434...2,051,814 		JBrowse link
G Grid2 glutamate ionotropic receptor delta type subunit 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:93,745,165...95,222,354
Ensembl chr 4:92,415,230...93,889,355 		JBrowse link
G Grm1 glutamate metabotropic receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:6,878,542...7,273,447
Ensembl chr 1:5,058,292...5,453,170 		JBrowse link
G Itpr1 inositol 1,4,5-trisphosphate receptor, type 1 ISO ClinVar Annotator: match by term: Spinocerebellar Ataxia, Dominant ClinVar PMID:20437544 PMID:21367767 PMID:25741868 PMID:26467025 PMID:27001614 More... NCBI chr 4:142,743,401...143,066,505
Ensembl chr 4:141,187,418...141,510,491 		JBrowse link
G Kat2a lysine acetyltransferase 2A ISO protein:increased expression:retina (mouse) RGD PMID:15932940 RGD:9590239 NCBI chr10:86,132,535...86,140,877
Ensembl chr10:85,632,216...85,640,166 		JBrowse link
G Lrrk2 leucine-rich repeat kinase 2 ISO ClinVar Annotator: match by term: Spinocerebellar atrophy ClinVar PMID:18412265 PMID:18688798 PMID:18716801 PMID:18781329 PMID:19699188 More... NCBI chr 7:124,706,246...124,867,234
Ensembl chr 7:122,826,696...122,987,703 		JBrowse link
G Mme membrane metallo-endopeptidase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:149,806,826...149,957,381
Ensembl chr 2:147,722,086...147,803,792 		JBrowse link
G Nop56 NOP56 ribonucleoprotein ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:137,926,187...137,934,971
Ensembl chr 3:117,477,053...117,481,841 		JBrowse link
G Optn optineurin ISO protein:increased expression:neuron, nucleus RGD PMID:22318854 RGD:6480499 NCBI chr17:78,118,847...78,169,543
Ensembl chr17:73,209,575...73,260,251 		JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: Spinocerebellar atrophy ClinVar PMID:17436221 PMID:18546365 PMID:19010300 PMID:19364868 PMID:19762913 More... NCBI chr 1:142,792,119...142,808,933
Ensembl chr 1:133,382,766...133,398,567 		JBrowse link
G Ppp2r2b protein phosphatase 2, regulatory subunit B, beta ISO DNA:repeat, SNPs, haplotype:multiple
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:18940801 PMID:20629122 RGD:5686297 NCBI chr18:34,904,686...35,357,299
Ensembl chr18:34,653,721...35,081,025 		JBrowse link
G Prkcg protein kinase C, gamma ISO DNA:missense mutations:cds: (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:20398063 PMID:12644968 RGD:737790 NCBI chr 1:74,748,272...74,777,611
Ensembl chr 1:65,832,855...65,859,384 		JBrowse link
G Rbm17 RNA binding motif protein 17 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18337722 NCBI chr17:71,846,941...71,863,834
Ensembl chr17:66,937,140...66,954,014 		JBrowse link
G Rubcn rubicon autophagy regulator ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr11:81,420,261...81,469,415
Ensembl chr11:67,907,516...67,964,314 		JBrowse link
G Scyl1 SCY1 like pseudokinase 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:212,475,198...212,489,285
Ensembl chr 1:203,045,741...203,059,533 		JBrowse link
G Snx14 sorting nexin 14 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Spinocerebellar atrophy		 CTD
ClinVar		 PMID:25741868 PMID:25848753 NCBI chr 8:98,053,769...98,278,287
Ensembl chr 8:89,298,114...89,390,580 		JBrowse link
G Sptbn2 spectrin, beta, non-erythrocytic 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Spinocerebellar Ataxia, Dominant		 CTD
ClinVar		 PMID:25741868 PMID:26467025 PMID:27965395 PMID:28492532 NCBI chr 1:211,432,373...211,473,016
Ensembl chr 1:202,002,970...202,044,283 		JBrowse link
G Stub1 STIP1 homology and U-box containing protein 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:15,355,278...15,357,559
Ensembl chr10:14,850,765...14,853,046 		JBrowse link
G Syt14 synaptotagmin 14 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr13:104,416,796...104,570,790
Ensembl chr13:104,420,580...104,569,069 		JBrowse link
G Tbp TATA box binding protein onset ISO DNA:repeat:cds:g.172(CAG/CAA)47-55 (human) RGD PMID:21705419 PMID:11448935 RGD:5684014, RGD:5684015 NCBI chr 1:65,136,420...65,153,515
Ensembl chr 1:56,463,618...56,510,016 		JBrowse link
G Tdp2 tyrosyl-DNA phosphodiesterase 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr17:40,656,969...40,668,362
Ensembl chr17:40,228,947...40,240,313 		JBrowse link
G Tgm6 transglutaminase 6 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:137,771,368...137,809,000
Ensembl chr 3:117,321,489...117,354,734 		JBrowse link
G Trpc3 transient receptor potential cation channel, subfamily C, member 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:121,409,436...121,487,095
Ensembl chr 2:119,481,400...119,558,855 		JBrowse link
G Ttbk2 tau tubulin kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18037885 NCBI chr 3:128,144,851...128,256,630
Ensembl chr 3:107,697,340...107,803,223 		JBrowse link
G Twnk twinkle mtDNA helicase ISO ClinVar Annotator: match by term: Spinocerebellar Ataxia, Recessive ClinVar PMID:21689831 PMID:25741868 PMID:28492532 NCBI chr 1:253,817,074...253,823,958
Ensembl chr 1:243,868,330...243,874,802 		JBrowse link
G Uba5 ubiquitin-like modifier activating enzyme 5 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:113,544,037...113,559,711
Ensembl chr 8:104,665,046...104,680,894 		JBrowse link
G Vps13d vacuolar protein sorting 13 homolog D ISO ClinVar Annotator: match by term: Spinocerebellar atrophy ClinVar PMID:25741868 NCBI chr 5:162,113,732...162,339,121
Ensembl chr 5:156,830,512...157,055,891 		JBrowse link
G Vwa3b von Willebrand factor A domain containing 3B ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:39,249,523...39,419,614
Ensembl chr 9:39,250,430...39,419,611 		JBrowse link
G Wwox WW domain-containing oxidoreductase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr19:59,338,402...60,269,323
Ensembl chr19:42,432,152...43,359,391 		JBrowse link
G Zfhx3 zinc finger homeobox 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr19:52,789,146...53,795,664
Ensembl chr19:36,630,254...36,881,771 		JBrowse link
Stiff-Person syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atox1 antioxidant 1 copper chaperone ISO ClinVar Annotator: match by term: Hereditary hyperekplexia ClinVar PMID:28492532 NCBI chr10:40,065,525...40,080,627
Ensembl chr10:39,564,857...39,579,950 		JBrowse link
G Ctnnb1 catenin beta 1 ISO ClinVar Annotator: match by term: Stiff-man syndrome, congenital ClinVar PMID:10192393 PMID:10391090 PMID:25157968 PMID:26619011 NCBI chr 8:129,517,576...129,544,661
Ensembl chr 8:120,639,995...120,667,111 		JBrowse link
G Fat2 FAT atypical cadherin 2 ISO ClinVar Annotator: match by term: Hereditary hyperekplexia ClinVar PMID:28492532 NCBI chr10:39,864,765...39,957,027
Ensembl chr10:39,364,073...39,456,216 		JBrowse link
G G3bp1 G3BP stress granule assembly factor 1 ISO ClinVar Annotator: match by term: Hereditary hyperekplexia ClinVar PMID:28492532 NCBI chr10:40,087,533...40,120,931
Ensembl chr10:39,586,864...39,620,268 		JBrowse link
G Glra1 glycine receptor, alpha 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hereditary hyperekplexia | ClinVar Annotator: match by term: Stiff-person syndrome, congenital		 CTD
ClinVar		 PMID:1334371 PMID:7518444 PMID:7611730 PMID:7874121 PMID:7881416 More... NCBI chr10:40,128,284...40,228,612
Ensembl chr10:39,629,459...39,727,162 		JBrowse link
G Glrb glycine receptor, beta ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:168,432,736...168,505,614
Ensembl chr 2:166,134,626...166,207,489 		JBrowse link
G Gm2a ganglioside GM2 activator ISO ClinVar Annotator: match by term: Hereditary hyperekplexia ClinVar PMID:28492532 NCBI chr10:39,719,919...39,732,452
Ensembl chr10:39,219,243...39,231,757 		JBrowse link
G Gphn gephyrin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Stiff-person syndrome, congenital		 CTD
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr 6:102,687,405...103,216,679
Ensembl chr 6:96,892,148...97,483,612 		JBrowse link
G Hsd17b4 hydroxysteroid (17-beta) dehydrogenase 4 ISO RGD PMID:12225901 RGD:10411898 NCBI chr18:45,515,427...45,604,467
Ensembl chr18:43,328,824...43,417,952 		JBrowse link
G Lama2 laminin subunit alpha 2 ISO ClinVar Annotator: match by term: Stiff-person syndrome, congenital ClinVar PMID:24225367 PMID:25741868 PMID:28492532 NCBI chr 1:19,492,126...20,140,056
Ensembl chr 1:17,672,536...18,320,530 		JBrowse link
G Slc36a1 solute carrier family 36 member 1 ISO ClinVar Annotator: match by term: Hereditary hyperekplexia ClinVar PMID:28492532 NCBI chr10:39,819,753...39,858,068
Ensembl chr10:39,324,337...39,354,217 		JBrowse link
G Slc36a2 solute carrier family 36 member 2 ISO ClinVar Annotator: match by term: Hereditary hyperekplexia ClinVar PMID:28492532 NCBI chr10:39,778,667...39,806,781
Ensembl chr10:39,278,046...39,306,082 		JBrowse link
G Slc36a3 solute carrier family 36, member 3 ISO ClinVar Annotator: match by term: Hereditary hyperekplexia ClinVar PMID:28492532 NCBI chr10:39,744,226...39,774,120
Ensembl chr10:39,243,595...39,270,567 		JBrowse link
G Slc6a5 solute carrier family 6 member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25480793 NCBI chr 1:108,767,245...108,833,173
Ensembl chr 1:99,645,389...99,697,010 		JBrowse link
G Sparc secreted protein acidic and cysteine rich ISO ClinVar Annotator: match by term: Hereditary hyperekplexia ClinVar PMID:28492532 NCBI chr10:40,017,065...40,038,816
Ensembl chr10:39,516,406...39,538,396 		JBrowse link
G Trak1 trafficking kinesin protein 1 ISS OMIM:184850 MouseDO NCBI chr 8:129,861,967...130,016,870
Ensembl chr 8:120,984,431...121,139,367 		JBrowse link
Subacute Combined Degeneration term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd40 CD40 molecule treatment IMP
IDA		 RGD PMID:16716410 PMID:16716410 RGD:2313422, RGD:2313422 NCBI chr 3:174,209,113...174,224,592
Ensembl chr 3:153,790,449...153,805,534 		JBrowse link
G Cd40lg CD40 ligand treatment IEP
IDA		 protein:increased expression:cerebrospinal fluid RGD PMID:16716410 PMID:16716410 RGD:2313422, RGD:2313422 NCBI chr  X:140,164,341...140,176,057
Ensembl chr  X:135,126,969...135,138,306 		JBrowse link
subependymal giant cell astrocytoma 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: Subependymal giant-cell astrocytoma ClinVar PMID:25741868 PMID:28492532 NCBI chr19:40,425,560...40,724,810
Ensembl chr19:23,520,741...23,823,225 		JBrowse link
syringomyelia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scn9a sodium voltage-gated channel alpha subunit 9 ISO ClinVar Annotator: match by term: MORVAN DISEASE
ClinVar Annotator: match by term: MORVAN DISEASE | ClinVar Annotator: match by term: Morvan disease		 ClinVar PMID:14985375 PMID:15385606 PMID:15955112 PMID:16865694 PMID:17167479 More... NCBI chr 3:71,553,185...71,701,377
Ensembl chr 3:51,145,146...51,293,516 		JBrowse link
G Wnk1 WNK lysine deficient protein kinase 1 ISO ClinVar Annotator: match by term: Morvan disease ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:154,800,590...154,926,147
Ensembl chr 4:153,128,334...153,253,905 		JBrowse link
tethered spinal cord syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Occult spinal dysraphism sequence ClinVar PMID:4386970 PMID:5771505 PMID:16372351 PMID:16523510 PMID:16804887 More... NCBI chr 4:69,329,772...69,476,931
Ensembl chr 4:68,384,649...68,510,463 		JBrowse link
transverse myelitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aqp4 aquaporin 4 ISO RGD PMID:21771203 PMID:23999580 RGD:5148008, RGD:8696028 NCBI chr18:6,782,389...6,799,034
Ensembl chr18:6,507,903...6,524,856 		JBrowse link
G Il6 interleukin 6 ISO protein:increased expression:serum, cerebral spinal fluid: RGD PMID:20128675 RGD:7829722 NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,213,394...5,219,178 		JBrowse link
G Vps37a VPS37A subunit of ESCRT-I ISO ClinVar Annotator: match by term: Idiopathic transverse myelitis ClinVar PMID:25741868 PMID:28492532 PMID:29473047 NCBI chr16:58,434,802...58,478,777
Ensembl chr16:51,737,481...51,775,390 		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
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 sideroblastic anemia with ataxia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb7 ATP binding cassette subfamily B member 7 susceptibility ISO DNA:missense mutation: :p.I400M (human)
ClinVar Annotator: match by term: ABCB7-related condition | ClinVar Annotator: match by term: Sideroblastic Anemia and Ataxia | ClinVar Annotator: match by term: X-linked sideroblastic anemia with ataxia
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:exon:p.V411L (1299G>C) (human)
DNA:missense mutation:exon:p.E433K (1305G>A) (human)		 ClinVar
CTD
OMIM
RGD		 PMID:4045952 PMID:9536098 PMID:10196363 PMID:11050011 PMID:11118249 More... RGD:1598600, RGD:11038735, RGD:11038734 NCBI chr  X:73,361,296...73,502,464
Ensembl chr  X:69,295,552...69,436,858 		JBrowse link
G Alas2 5'-aminolevulinate synthase 2 ISO ClinVar Annotator: match by term: Sideroblastic Anemia and Ataxia ClinVar PMID:25741868 NCBI chr  X:22,890,650...22,914,046
Ensembl chr  X:19,463,171...19,486,519 		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
X-linked spinocerebellar ataxia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb7 ATP binding cassette subfamily B member 7 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked ClinVar PMID:26242992 NCBI chr  X:73,361,296...73,502,464
Ensembl chr  X:69,295,552...69,436,858 		JBrowse link
G Amer1 APC membrane recruitment protein 1 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked ClinVar PMID:26242992 PMID:28492532 NCBI chr  X:64,310,492...64,326,377
Ensembl chr  X:60,295,751...60,316,440 		JBrowse link
G Atp2b3 ATPase plasma membrane Ca2+ transporting 3 ISO ClinVar Annotator: match by term: X-linked progressive cerebellar ataxia
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:10797423 PMID:22912398 PMID:25326635 PMID:25741868 PMID:26633542 More... NCBI chr  X:156,367,582...156,464,085
Ensembl chr  X:151,216,507...151,286,775 		JBrowse link
G Atp7a ATPase copper transporting alpha ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked ClinVar PMID:26242992 NCBI chr  X:75,159,635...75,267,094
Ensembl chr  X:71,094,202...71,198,354 		JBrowse link
G Nhsl2 NHS-like 2 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked ClinVar PMID:26242992 NCBI chr  X:71,009,940...71,249,427
Ensembl chr  X:66,970,151...67,200,911 		JBrowse link
G Phka1 phosphorylase kinase regulatory subunit alpha 1 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked ClinVar PMID:26242992 PMID:28492532 NCBI chr  X:71,639,701...71,778,465
Ensembl chr  X:67,601,302...67,738,455 		JBrowse link
G Rtl9 retrotransposon Gag like 9 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked ClinVar PMID:26242992 NCBI chr  X:111,470,972...111,517,356
Ensembl chr  X:106,714,868...106,719,794 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19139
    disease of anatomical entity 18451
      nervous system disease 14361
        central nervous system disease 12639
          spinal cord disease 1954
            Pneumorrhachis 0
            Spinal Cord Injuries + 290
            Spinal Cord Neoplasms + 625
            Spinal Cord Vascular Diseases + 16
            Spinal Intradural Arachnoid Cysts 0
            Stiff-Person syndrome 16
            Subacute Combined Degeneration 2
            amyotrophic lateral sclerosis + 397
            baylisascariasis 0
            epidural abscess 0
            myelitis + 30
            myelomeningocele + 5
            neuroschistosomiasis 0
            primary cerebellar degeneration + 591
            spinal muscular atrophy + 157
            syringomyelia + 60
            tabes dorsalis + 1
            tertiary neurosyphilis + 1
            tethered spinal cord syndrome 1
            vascular myelopathy 0
paths to the root