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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: 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 3:160,115,840...160,139,947
Ensembl chr 3:160,115,842...160,139,947
JBrowse link
G App amyloid beta precursor protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:11800653 NCBI chr11:24,425,013...24,641,872
Ensembl chr11:24,425,005...24,641,858
JBrowse link
G Il6 interleukin 6 ISO protein:increased expression:serum RGD PMID:30327453 RGD:14975119 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16361298 NCBI chr 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
JBrowse link
3-methylglutaconic aciduria type 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnajc19 DnaJ heat shock protein family (Hsp40) member C19 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria type V
ClinVar Annotator: match by OMIM:610198
OMIM
ClinVar
PMID:16055927, PMID:22797137, PMID:22981120, PMID:27928778, PMID:28492532, PMID:29625556 NCBI chr 2:120,503,093...120,531,782
Ensembl chr 2:120,504,130...120,531,782
JBrowse link
adult spinal cord ependymoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chd6 chromodomain helicase DNA binding protein 6 ISO ClinVar Annotator: match by term: Adult Spinal Cord Ependymoma ClinVar NCBI chr 3:156,937,746...157,099,328
Ensembl chr 3:156,937,733...157,099,306
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 ClinVar Annotator: match by term: SPINAL MUSCULAR ATROPHY, TYPE IV OMIM
ClinVar
PMID:21542063, PMID:25741868, PMID:28492532 NCBI chr 2:30,360,101...30,371,147
Ensembl chr 2:30,360,100...30,371,147
JBrowse link
amyotrophic lateral sclerosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adarb1 adenosine deaminase, RNA-specific, B1 ISO
ISS
mRNA:decreased expression:motor neuron: MouseDO PMID:20372915, PMID:22226999 RGD:10755336, RGD:13432092 NCBI chr20:11,972,352...12,101,022
Ensembl chr20:11,972,381...12,101,047
JBrowse link
G Akt1 AKT serine/threonine kinase 1 ISO protein:increased expression:skeletal muscle RGD PMID:18273716 RGD:5509081 NCBI chr 6:137,218,398...137,239,970
Ensembl chr 6:137,218,376...137,236,258
JBrowse link
G Als2 alsin Rho guanine nucleotide exchange factor ALS2 susceptibility ISO RGD PMID:11586297 RGD:1599080 NCBI chr 9:65,961,361...66,034,396
Ensembl chr 9:65,961,346...66,033,871
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 PMID:25741868, PMID:22190368, PMID:16501576, PMID:17462671, PMID:19177252 RGD:6892707, RGD:6892718, RGD:6892716, RGD:6892713 NCBI chr15:28,022,926...28,028,636 JBrowse link
G Aox1 aldehyde oxidase 1 ISO RGD PMID:7570184 RGD:734575 NCBI chr 9:64,929,682...65,007,872
Ensembl chr 9:64,929,721...65,007,870
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 1:80,612,894...80,616,820
Ensembl chr 1:80,612,895...80,617,057
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 chr18:6,766,009...6,782,757
Ensembl chr18:6,765,945...6,782,996
JBrowse link
G Atg5 autophagy related 5 ISO mRNA:increased expression:spinal cord RGD PMID:23851366 RGD:11561951 NCBI chr20:49,301,783...49,393,147
Ensembl chr20:49,318,308...49,393,140
JBrowse link
G Atox1 antioxidant 1 copper chaperone disease_progression ISO protein:increased expression:spinal chord RGD PMID:19656261 RGD:13524567 NCBI chr10:40,790,850...40,805,886
Ensembl chr10:40,790,845...40,805,941
JBrowse link
G Atxn2 ataxin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27377857 NCBI chr12:40,264,601...40,335,637
Ensembl chr12:40,266,662...40,332,612
JBrowse link
G Bad BCL2-associated agonist of cell death disease_progression ISO RGD PMID:10582606 RGD:13506907 NCBI chr 1:222,198,516...222,207,459
Ensembl chr 1:222,198,534...222,207,453
JBrowse link
G Bak1 BCL2-antagonist/killer 1 treatment ISO RGD PMID:20890041 RGD:13506803 NCBI chr20:5,609,620...5,618,899
Ensembl chr20:5,609,625...5,618,260
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 1:101,451,801...101,457,207
Ensembl chr 1:101,451,802...101,457,207
JBrowse link
G Bcl2 BCL2, apoptosis regulator disease_progression ISO RGD PMID:10582606 RGD:13506907 NCBI chr13:26,605,426...26,769,374
Ensembl chr13:26,605,426...26,769,374
JBrowse link
G Bcl2l1 Bcl2-like 1 treatment
disease_progression
IMP
ISO
RGD PMID:18543336, PMID:10582606 RGD:13506902, RGD:13506907 NCBI chr 3:148,259,594...148,314,191
Ensembl chr 3:148,259,596...148,313,810
JBrowse link
G Becn1 beclin 1 ISO mRNA:increased expression:spinal cord RGD PMID:23851366 RGD:11561951 NCBI chr10:89,209,944...89,225,297
Ensembl chr10:89,209,940...89,225,297
JBrowse link
G Bid BH3 interacting domain death agonist ISO RGD PMID:29440992 RGD:13506949 NCBI chr 4:153,439,812...153,465,247
Ensembl chr 4:153,442,218...153,465,203
JBrowse link
G Bnip3l BCL2 interacting protein 3 like ISO RGD PMID:29440992 RGD:13506949 NCBI chr15:43,643,897...43,667,123
Ensembl chr15:43,643,897...43,667,029
JBrowse link
G Bptf bromodomain PHD finger transcription factor ISO mRNA,protein:increased expression:spinal cord: RGD PMID:9225734 RGD:9586057 NCBI chr10:95,248,573...95,350,162
Ensembl chr10:95,250,294...95,349,789
JBrowse link
G C3 complement C3 IEP RGD PMID:19050293 RGD:5130169 NCBI chr 9:9,721,137...9,747,084
Ensembl chr 9:9,721,105...9,747,167
JBrowse link
G C5ar1 complement C5a receptor 1 IMP RGD PMID:19050293 RGD:5130169 NCBI chr 1:78,186,777...78,195,132
Ensembl chr 1:78,186,776...78,195,328
JBrowse link
G Cacna1a calcium voltage-gated channel subunit alpha1 A ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 NCBI chr19:25,453,236...25,749,550
Ensembl chr19:25,526,751...25,749,550
JBrowse link
G Calca calcitonin-related polypeptide alpha ISO RGD PMID:21964254 RGD:5684010 NCBI chr 1:184,184,018...184,188,922
Ensembl chr 1:184,184,020...184,188,911
JBrowse link
G Camk1g calcium/calmodulin-dependent protein kinase IG ISO CTD Direct Evidence: marker/mechanism CTD PMID:23624525 NCBI chr13:112,075,689...112,099,472
Ensembl chr13:112,075,690...112,099,336
JBrowse link
G Casp12 caspase 12 IEP protein:increased activity:spinal cord RGD PMID:16847061 RGD:2311466 NCBI chr 8:2,658,892...2,686,160
Ensembl chr 8:2,659,865...2,686,160
JBrowse link
G Casp3 caspase 3 IEP protein:increased activity:spinal cord RGD PMID:16847061 RGD:2311466 NCBI chr16:48,845,011...48,863,249
Ensembl chr16:48,845,012...48,863,204
JBrowse link
G Casp9 caspase 9 IEP protein:increased activity:spinal cord RGD PMID:16847061 RGD:2311466 NCBI chr 5:160,356,211...160,373,774
Ensembl chr 5:160,355,833...160,373,778
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
G Ccs copper chaperone for superoxide dismutase treatment ISO RGD PMID:26826269 RGD:13524551 NCBI chr 1:220,075,251...220,096,319
Ensembl chr 1:220,075,247...220,096,404
JBrowse link
G Cd40lg CD40 ligand ISO CTD Direct Evidence: therapeutic CTD PMID:20348957, PMID:20348957 RGD:5490547 NCBI chr  X:159,703,703...159,714,886
Ensembl chr  X:159,703,578...159,716,562
JBrowse link
G Cdk5 cyclin-dependent kinase 5 ISO RGD PMID:11343650 RGD:734741 NCBI chr 4:7,282,945...7,287,427
Ensembl chr 4:7,282,948...7,288,383
JBrowse link
G Cfap410 cilia and flagella associated protein 410 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27455348 NCBI chr20:11,417,428...11,424,301
Ensembl chr20:11,417,429...11,424,324
JBrowse link
G Chmp2b charged multivesicular body protein 2B ISO DNA:mutations:cds:Q206H, I29V (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:16807408, PMID:16807408 RGD:5688711 NCBI chr11:2,666,405...2,692,213
Ensembl chr11:2,665,285...2,692,198
JBrowse link
G Chrna3 cholinergic receptor nicotinic alpha 3 subunit ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 NCBI chr 8:59,594,007...59,607,122
Ensembl chr 8:59,592,403...59,607,275
JBrowse link
G Chrna4 cholinergic receptor nicotinic alpha 4 subunit ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:7895015, PMID:18479385, PMID:22036597, PMID:25741868, PMID:28492532, PMID:29454195 NCBI chr 3:176,533,182...176,547,965
Ensembl chr 3:176,527,516...176,548,208
JBrowse link
G Chrnb4 cholinergic receptor nicotinic beta 4 subunit ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 NCBI chr 8:59,610,489...59,629,073
Ensembl chr 8:59,609,693...59,629,133
JBrowse link
G Cntf ciliary neurotrophic factor susceptibility ISO RGD PMID:11951178 RGD:734796 NCBI chr 1:229,599,009...229,601,032
Ensembl chr 1:229,599,009...229,601,032
JBrowse link
G Ctsh cathepsin H ISO mRNA, protein:increased expression:spinal cord RGD PMID:17583678 RGD:5686391 NCBI chr 8:97,439,155...97,458,293
Ensembl chr 8:97,439,161...97,458,287
JBrowse link
G Dao D-amino-acid oxidase ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 NCBI chr12:48,353,691...48,373,647
Ensembl chr12:48,354,196...48,365,784
JBrowse link
G Dbr1 debranching RNA lariats 1 ISO CTD Direct Evidence: therapeutic CTD PMID:23104007 NCBI chr 8:107,826,690...107,838,186
Ensembl chr 8:107,826,424...107,838,339
JBrowse link
G Dctn1 dynactin subunit 1 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis, susceptibility to ClinVar PMID:15326253, PMID:16240349, PMID:18812314, PMID:19506225, PMID:23143281, PMID:25025039, PMID:25382069, PMID:25741868, PMID:26467025, PMID:26662454, PMID:27132499, PMID:28430856, PMID:28492532, PMID:28717666 NCBI chr 4:114,876,770...114,896,567
Ensembl chr 4:114,876,770...114,896,573
JBrowse link
G Dnmt3a DNA methyltransferase 3 alpha ISO protein:decreased expression:mitochondrion: RGD PMID:24399935 RGD:9589066 NCBI chr 6:28,205,375...28,346,052
Ensembl chr 6:28,235,695...28,340,577
JBrowse link
G Dpp6 dipeptidyl peptidase like 6 no_association ISO DNA:SNP:intron:rs10260404 (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:18084291, PMID:18708572, PMID:20137488 RGD:5687188, RGD:5687181 NCBI chr 4:4,021,021...4,943,675
Ensembl chr 4:4,021,008...4,473,307
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 6:1,428,845...1,466,193
Ensembl chr 6:1,428,834...1,466,201
JBrowse link
G Elp3 elongator acetyltransferase complex subunit 3 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 NCBI chr15:48,942,866...49,005,074
Ensembl chr15:48,942,871...49,005,058
JBrowse link
G Epg5 ectopic P-granules autophagy protein 5 homolog ISS MouseDO NCBI chr18:74,299,965...74,397,115
Ensembl chr18:74,299,931...74,395,547
JBrowse link
G Epo erythropoietin disease_progression ISO protein:decreased expression:cerebrospinal fluid RGD PMID:17368721 RGD:10395391 NCBI chr12:22,274,828...22,278,268
Ensembl chr12:22,274,828...22,278,266
JBrowse link
G Erbb4 erb-b2 receptor tyrosine kinase 4 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 NCBI chr 9:75,021,790...76,178,936
Ensembl chr 9:75,021,790...75,528,644
JBrowse link
G Fig4 FIG4 phosphoinositide 5-phosphatase ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:17572665, PMID:18180444, PMID:18261132, PMID:18556664, PMID:19118816, PMID:20630877, PMID:21655088, PMID:21705420, PMID:22131434, PMID:22998443, PMID:23489662, PMID:24878229, PMID:25510381, PMID:25617005, PMID:25741868, PMID:26467025, PMID:28051077, PMID:28492532, PMID:30311386 NCBI chr20:45,922,806...46,044,754
Ensembl chr20:45,922,806...46,044,738
JBrowse link
G Fus FUS RNA binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:30455313, PMID:22055719, PMID:21408206 RGD:5509900, RGD:9685710 NCBI chr 1:199,412,805...199,426,705
Ensembl chr 1:199,412,834...199,426,702
JBrowse link
G Gdnf glial cell derived neurotrophic factor ISO mRNA:increased expression:skeletal muscle RGD PMID:10447463 RGD:6218978 NCBI chr 2:56,884,181...56,912,964
Ensembl chr 2:56,887,987...56,910,238
JBrowse link
G Gfap glial fibrillary acidic protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:11723166 NCBI chr10:90,990,762...90,999,435
Ensembl chr10:90,990,762...90,999,506
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 chr10:45,526,740...45,535,520
Ensembl chr10:45,526,745...45,534,570
JBrowse link
G Got1 glutamic-oxaloacetic transaminase 1 treatment ISO human protein in a rat model RGD PMID:26113413 RGD:13506239 NCBI chr 1:263,246,248...263,269,762
Ensembl chr 1:263,246,248...263,269,762
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 chr10:90,377,103...90,383,207
Ensembl chr10:90,376,933...90,383,205
JBrowse link
G Gsk3a glycogen synthase kinase 3 alpha ISO RGD PMID:12675919 RGD:2301741 NCBI chr 1:82,097,244...82,108,238
Ensembl chr 1:82,097,247...82,108,203
JBrowse link
G Gsk3b glycogen synthase kinase 3 beta ISO RGD PMID:12675919 RGD:2301741 NCBI chr11:65,060,884...65,208,842
Ensembl chr11:65,066,235...65,209,268
JBrowse link
G Gsr glutathione-disulfide reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16681429 NCBI chr16:62,197,617...62,239,987
Ensembl chr16:62,197,617...62,241,361
JBrowse link
G Gstp1 glutathione S-transferase pi 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16109392 NCBI chr 1:219,291,679...219,294,147
Ensembl chr 1:219,291,679...219,294,147
JBrowse link
G Hdac4 histone deacetylase 4 severity ISO RGD PMID:23824486 RGD:9681450 NCBI chr 9:99,052,945...99,299,715
Ensembl chr 9:99,057,089...99,299,715
JBrowse link
G Hes1 hes family bHLH transcription factor 1 ISO protein:increased expression:spinal chord RGD PMID:26067594 RGD:13524575 NCBI chr11:74,312,837...74,315,249
Ensembl chr11:74,312,806...74,315,248
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 2:95,320,147...95,322,701
Ensembl chr 2:95,320,283...95,322,696
JBrowse link
G Hmgb1 high mobility group box 1 severity ISO RGD PMID:23639787 RGD:10402056 NCBI chr12:7,082,529...7,090,246
Ensembl chr16:37,500,017...37,502,237
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 chr17:6,664,730...6,676,753
Ensembl chr17:6,665,659...6,676,654
JBrowse link
G Hrk harakiri, BCL2 interacting protein ISO RGD PMID:29440992 RGD:13506949 NCBI chr12:44,008,879...44,029,211 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 1:128,924,921...129,213,816
Ensembl chr 1:128,924,966...129,206,516
JBrowse link
G Igf2r insulin-like growth factor 2 receptor IEP protein:increased expression:spinal cord, astrocyte RGD PMID:18441505 RGD:2311519 NCBI chr 1:48,176,095...48,264,482
Ensembl chr 1:48,176,106...48,264,477
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 4:180,423,452...180,800,088
Ensembl chr 4:180,538,389...180,722,358
JBrowse link
G Jag1 jagged canonical Notch ligand 1 ISO protein:increased expression:spinal chord RGD PMID:26067594 RGD:13524575 NCBI chr 3:130,079,361...130,114,781
Ensembl chr 3:130,079,361...130,114,770
JBrowse link
G Kcnj10 potassium inwardly-rectifying channel, subfamily J, member 10 IEP protein:decreased expression:brainstem RGD PMID:22987392 RGD:8662893 NCBI chr13:90,722,945...90,753,338
Ensembl chr13:90,723,092...90,752,581
JBrowse link
G Kdr kinase insert domain receptor ISO protein:decreased expression:spinal cord RGD PMID:16410746 RGD:1580568 NCBI chr14:34,727,677...34,787,127
Ensembl chr14:34,727,623...34,787,183
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 8:22,250,518...22,259,868
Ensembl chr 8:22,250,518...22,259,779
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 5:165,994,803...166,133,497
Ensembl chr 5:165,938,576...166,133,491
JBrowse link
G Lrrk2 leucine-rich repeat kinase 2 ISO mRNA:increased expression:skeletal muscle RGD PMID:21375368 RGD:5508417 NCBI chr 7:132,857,311...133,018,549
Ensembl chr 7:132,857,628...133,018,584
JBrowse link
G Maml1 mastermind-like transcriptional coactivator 1 ISO protein:increased expression:spinal chord RGD PMID:26067594 RGD:13524575 NCBI chr10:35,765,196...35,801,375
Ensembl chr10:35,765,719...35,800,120
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 3:150,801,289...150,802,935
Ensembl chr 3:150,801,289...150,802,935
JBrowse link
G Map3k5 mitogen-activated protein kinase kinase kinase 5 ISO protein:hyperphosphorylation:motor neuron: RGD PMID:15910777 RGD:10412312 NCBI chr 1:15,412,603...15,613,752
Ensembl chr 1:15,412,603...15,613,746
JBrowse link
G Mapk14 mitogen activated protein kinase 14 ISO protein:hyperphosphorylation:motor neuron: RGD PMID:15910777 RGD:10412312 NCBI chr20:5,933,290...5,995,137
Ensembl chr20:5,933,303...5,995,137
JBrowse link
G Mmp1 matrix metallopeptidase 1 ISO protein:increased expression:serum (human) RGD PMID:19796283 RGD:7207054 NCBI chr 8:5,703,206...5,723,593
Ensembl chr 8:5,703,206...5,723,591
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 chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611
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 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
G Mobp myelin-associated oligodendrocyte basic protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:27455348 NCBI chr 8:128,824,420...128,854,492
Ensembl chr 8:128,824,508...128,850,358
JBrowse link
G Mstn myostatin IMP RGD PMID:16837207 RGD:2303556 NCBI chr 9:53,310,977...53,315,804
Ensembl chr 9:53,309,598...53,315,915
JBrowse link
G Mt1 metallothionein 1 ISO mRNA:increased expression:spinal cord (mouse) RGD PMID:16179515 RGD:6484130 NCBI chr19:11,301,991...11,303,007
Ensembl chr17:78,793,336...78,793,724
JBrowse link
G Mt2A metallothionein 2A onset ISO mRNA:increased expression:soleus muscle, gastrocnemius muscle (mouse) RGD PMID:18000159 RGD:6482832 NCBI chr19:11,307,966...11,308,740
Ensembl chr19:11,307,967...11,308,740
JBrowse link
G Mt3 metallothionein 3 ISO RGD PMID:17097207, PMID:12388585, PMID:12417341 RGD:6480495, RGD:6480627, RGD:6480625 NCBI chr19:11,324,708...11,326,112
Ensembl chr19:11,324,698...11,326,139
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 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
JBrowse link
G Mtnr1a melatonin receptor 1A disease_progression ISO protein:decreased expression:spinal chord RGD PMID:23537713 RGD:13524569 NCBI chr16:50,339,358...50,358,809
Ensembl chr16:50,339,358...50,358,809
JBrowse link
G Mtrex Mtr4 exosome RNA helicase ISO mRNA:increased expression:peripheral blood lymphocyte (human) RGD PMID:23006766 RGD:11041891 NCBI chr 2:44,726,716...44,787,013
Ensembl chr 2:44,717,781...44,786,963
JBrowse link
G Nefh neurofilament heavy treatment ISO DNA:deletions:cds:multiple (human) RGD PMID:9931323, PMID:10686419 RGD:1302518, RGD:13525000 NCBI chr14:85,181,572...85,191,557
Ensembl chr14:85,181,572...85,191,557
JBrowse link
G Nefl neurofilament light treatment
disease_progression
ISO protein:increased expression:serum, csf RGD PMID:10686419, PMID:26273687 RGD:13525000, RGD:13525006 NCBI chr15:44,799,378...44,803,251
Ensembl chr15:44,799,334...44,804,574
JBrowse link
G Nefm neurofilament medium IGI RGD PMID:16006557 RGD:9698444 NCBI chr15:44,855,307...44,860,604
Ensembl chr15:44,855,310...44,860,604
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 chr16:32,321,010...32,439,421
Ensembl chr16:32,321,010...32,439,421
JBrowse link
G Nfe2l2 nuclear factor, erythroid 2-like 2 treatment ISO mRNA, protein:decreased expression:primary motor cortex, spinal cord (human) RGD PMID:18957896, PMID:22056419 RGD:6893397, RGD:10412690 NCBI chr 3:62,497,568...62,525,146
Ensembl chr 3:62,497,571...62,524,996
JBrowse link
G Nos2 nitric oxide synthase 2 ISO protein:increased expression:spinal cord (mouse) RGD PMID:21867702 RGD:5509065 NCBI chr10:66,188,290...66,221,621
Ensembl chr10:66,189,786...66,313,190
JBrowse link
G Notch1 notch receptor 1 ISO protein:increased expression:spinal chord RGD PMID:26067594 RGD:13524575 NCBI chr 3:3,905,562...3,951,015
Ensembl chr 3:3,905,453...3,951,025
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
PMID:21059646, PMID:25096716, PMID:25741868, PMID:21825243, PMID:20428114, PMID:21613650 RGD:6480502, RGD:6480506, RGD:6480504 NCBI chr17:77,167,700...77,218,374
Ensembl chr17:77,167,740...77,218,389
JBrowse link
G Park7 Parkinsonism associated deglycase ISO ClinVar Annotator: match by term: Guam disease ClinVar PMID:25741868 NCBI chr 5:167,982,438...168,004,724
Ensembl chr 5:167,982,439...168,004,724
JBrowse link
G Pfn1 profilin 1 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 NCBI chr10:57,273,003...57,275,708
Ensembl chr10:57,273,005...57,275,708
JBrowse link
G Pgf placental growth factor ISO RGD PMID:22119626 RGD:6483573 NCBI chr 6:108,994,016...109,004,598
Ensembl chr 6:108,994,018...109,004,598
JBrowse link
G Pla2g4a phospholipase A2 group IVA ISO CTD Direct Evidence: marker/mechanism CTD PMID:15816863 NCBI chr13:67,062,252...67,206,688
Ensembl chr13:66,988,937...67,206,693
JBrowse link
G Pnpla6 patatin-like phospholipase domain containing 6 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 NCBI chr12:2,068,749...2,098,139
Ensembl chr12:2,069,959...2,097,904
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 4:30,249,749...30,276,297
Ensembl chr 4:30,249,742...30,276,372
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 4:30,344,705...30,380,119
Ensembl chr 4:30,344,709...30,380,119
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 PMID:25741868, PMID:28492532, PMID:16822964 RGD:5509925 NCBI chr 4:30,311,981...30,338,679
Ensembl chr 4:30,311,982...30,338,679
JBrowse link
G Ppargc1a PPARG coactivator 1 alpha ISO human gene in mouse model
mRNA:decreased expression:motor cortex, muscle (human)
mRNA:decreased expression:spinal cord, gastrocnemius muscle (mouse)
RGD PMID:22102466, PMID:23147503, PMID:23147503 RGD:6484265, RGD:7242019, RGD:7242019 NCBI chr14:63,095,291...63,190,688
Ensembl chr14:63,095,720...63,187,009
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 1:101,511,899...101,515,043
Ensembl chr 1:101,511,901...101,514,974
JBrowse link
G Prph peripherin ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis, susceptibility to ClinVar PMID:15322088, PMID:15446584, PMID:25741868, PMID:28492532 NCBI chr 7:140,742,406...140,746,197
Ensembl chr 7:140,742,418...140,746,197
JBrowse link
G Psmc4 proteasome 26S subunit, ATPase 4 ISS MouseDO NCBI chr 1:84,978,220...84,986,536
Ensembl chr 1:84,978,206...84,986,581
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO protein:increased expression:spinal cord, neuron, glia
CTD Direct Evidence: marker/mechanism
CTD PMID:11220737, PMID:15816863, PMID:14511332 RGD:5688235 NCBI chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335
JBrowse link
G Ptprz1 protein tyrosine phosphatase, receptor type Z1 treatment IEP RGD PMID:25113670 RGD:9590123 NCBI chr 4:49,941,046...50,140,764
Ensembl chr 4:49,941,304...50,140,762
JBrowse link
G Rara retinoic acid receptor, alpha IEP RGD PMID:17956549 RGD:2314289 NCBI chr10:86,838,819...86,884,224
Ensembl chr10:86,860,685...86,884,210
JBrowse link
G RGD1359108 similar to RIKEN cDNA 3110043O21 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27713094 NCBI chr 5:50,666,444...50,691,523
Ensembl chr 5:50,668,040...50,684,409
JBrowse link
G Rnase4 ribonuclease A family member 4 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 NCBI chr15:28,018,040...28,035,395
Ensembl chr15:28,018,040...28,035,389
Ensembl chr15:28,018,040...28,035,389
JBrowse link
G Runx1 RUNX family transcription factor 1 ISO mRNA:increased expression:skeletal muscle RGD PMID:18000159 RGD:6482832 NCBI chr11:32,765,147...33,003,061
Ensembl chr11:32,769,165...33,003,021
JBrowse link
G Scfd1 sec1 family domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27455348 NCBI chr 6:72,124,408...72,202,703
Ensembl chr 6:72,124,417...72,202,713
JBrowse link
G Serpinf1 serpin family F member 1 ISO protein:increased expression:cerebrospinal fluid (human) RGD PMID:12067231 RGD:8554892 NCBI chr10:62,241,750...62,254,145
Ensembl chr10:62,241,756...62,254,287
JBrowse link
G Setx senataxin ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868, PMID:28492532 NCBI chr 3:7,680,430...7,731,815
Ensembl chr 3:7,686,503...7,730,539
JBrowse link
G Sigmar1 sigma non-opioid intracellular receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24885036 NCBI chr 5:58,121,824...58,124,687
Ensembl chr 5:58,121,786...58,124,681
JBrowse link
G Sirt1 sirtuin 1 ISO protein:increased expression:spinal cord (mouse) RGD PMID:17581637 RGD:2290573 NCBI chr20:26,831,971...26,851,587
Ensembl chr20:26,833,357...26,852,199
JBrowse link
G Slc11a2 solute carrier family 11 member 2 onset ISO DNA:SNP: :rs407135 (human) RGD PMID:21276595 RGD:5688710 NCBI chr 7:142,025,812...142,062,892
Ensembl chr 7:142,025,815...142,063,212
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 PMID:11723166, PMID:9539131 RGD:1302517 NCBI chr 3:92,518,679...92,665,731
Ensembl chr 3:92,640,752...92,665,644
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 5:78,222,504...78,249,358
Ensembl chr 5:78,222,504...78,249,358
JBrowse link
G Slc6a1 solute carrier family 6 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20132478 NCBI chr 4:146,258,842...146,292,176
Ensembl chr 4:146,276,862...146,292,213
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
CTD Direct Evidence: marker/mechanism
protein:increased expression:cerebrospinal fluid (human)
ClinVar
CTD
PMID:7887412, PMID:9065559, PMID:10025816, PMID:10930589, PMID:11220737, PMID:11590119, PMID:11723166, PMID:12586733, PMID:12626432, PMID:16495328, PMID:17097207, PMID:17319283, PMID:17496168, PMID:18233996, PMID:19635794, PMID:19929749, PMID:20132483, PMID:20177826, PMID:20348957, PMID:20515040, PMID:21867702, PMID:23583883, PMID:24885036, PMID:25164820, PMID:25741868, PMID:30503815, PMID:18947433, PMID:26826269, PMID:23147550 RGD:2312367, RGD:13524551, RGD:8655880 NCBI chr11:30,363,282...30,368,858
Ensembl chr11:30,363,280...30,368,862
JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8866423 NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
JBrowse link
G Sqstm1 sequestosome 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis
mRNA:increased expression:spinal cord
CTD
ClinVar
PMID:19765191, PMID:25741868, PMID:28492532, PMID:23851366 RGD:11561951 NCBI chr10:35,704,728...35,716,316
Ensembl chr10:35,704,730...35,716,294
JBrowse link
G Steap2 STEAP2 metalloreductase disease_progression ISO protein:increased expression:spinal chord RGD PMID:19656261 RGD:13524567 NCBI chr 4:25,506,604...25,527,088
Ensembl chr 4:25,507,463...25,527,087
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 PMID:18372902, PMID:21167262, PMID:22879928, PMID:23104007, PMID:24019256, PMID:24252504, PMID:21752789, PMID:18372902, PMID:21651514, PMID:17023659, PMID:18309045, PMID:21998667 RGD:5687134, RGD:5687192, RGD:5687173, RGD:5687158, RGD:5687157, RGD:5687137 NCBI chr 5:165,432,089...165,442,232
Ensembl chr 5:165,432,095...165,442,048
JBrowse link
G Tfam transcription factor A, mitochondrial severity ISO RGD PMID:22354563 RGD:6767572 NCBI chr20:18,594,057...18,606,106
Ensembl chr20:18,594,037...18,606,151
JBrowse link
G Tnf tumor necrosis factor ISO protein:increased expression:spinal cord RGD PMID:13678668 RGD:12904653 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Tnfrsf21 TNF receptor superfamily member 21 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24113175 NCBI chr 9:20,546,159...20,621,051
Ensembl chr 9:20,546,159...20,621,051
JBrowse link
G Tp53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17434459 NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
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 3:119,258,189...119,347,084
Ensembl chr 3:119,259,467...119,330,345
JBrowse link
G Tubb4a tubulin, beta 4A class IVa ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:30311386 NCBI chr 9:9,961,020...9,968,420
Ensembl chr 9:9,961,021...9,968,486
JBrowse link
G Txnrd1 thioredoxin reductase 1 susceptibility ISO DNA:SNPs:intron:rs6539137, rs4630362 (human) RGD PMID:18996185 RGD:5685032 NCBI chr 7:26,946,124...26,984,400
Ensembl chr 7:26,946,125...26,984,400
JBrowse link
G Ubqln2 ubiquilin 2 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:21857683, PMID:25333069, PMID:25616961, PMID:25741868, PMID:26075709, PMID:28492532, PMID:21857683 RGD:5147832 NCBI chr  X:18,723,313...18,726,732
Ensembl chr  X:18,723,341...18,726,732
JBrowse link
G Unc13a unc-13 homolog A no_association ISO DNA:SNP:intron:rs12608932 (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:19734901, PMID:20385924, PMID:19734901 RGD:5686382, RGD:5686384 NCBI chr16:20,056,398...20,103,951
Ensembl chr16:20,056,765...20,097,287
JBrowse link
G Vapb VAMP associated protein B and C ISO DNA:missense mutation:cds:p.P56S (human)
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis, typical
ClinVar PMID:15372378, PMID:16187141, PMID:16967488, PMID:17804640, PMID:18322265, PMID:18677189, PMID:19183264, PMID:20008544, PMID:20377183, PMID:20447143, PMID:20577002, PMID:21275991, PMID:21685205, PMID:21933185, PMID:22131369, PMID:22258555, PMID:22454507, PMID:23333387, PMID:23446633, PMID:23771029, PMID:24212516, PMID:24681403, PMID:26467025, PMID:26566915, PMID:27978769, PMID:28492532, PMID:15372378 RGD:5688230 NCBI chr 3:171,832,558...171,871,042
Ensembl chr 3:171,832,500...171,868,647
JBrowse link
G Vcp valosin-containing protein ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:15034582, PMID:20604808, PMID:22270372, PMID:22909335, PMID:23333620, PMID:25617006, PMID:25741868, PMID:28492532 NCBI chr 5:58,426,548...58,445,953
Ensembl chr 5:58,426,549...58,445,953
JBrowse link
G Vdr vitamin D receptor susceptibility ISO DNA:SNP:intron:rs7975232(human) RGD PMID:26190642 RGD:11560790 NCBI chr 7:139,344,452...139,394,138
Ensembl chr 7:139,342,063...139,394,166
JBrowse link
G Vegfa vascular endothelial growth factor A ISO RGD PMID:16410746 RGD:1580568 NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
JBrowse link
G Zfp106 zinc finger protein 106 ISS MouseDO NCBI chr 3:112,279,782...112,330,288
Ensembl chr 3:112,283,112...112,320,762
JBrowse link
amyotrophic lateral sclerosis type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bcl2l1 Bcl2-like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 3:148,259,594...148,314,191
Ensembl chr 3:148,259,596...148,313,810
JBrowse link
G Bsg basigin (Ok blood group) ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 7:12,875,536...12,882,753
Ensembl chr 7:12,875,537...12,882,753
JBrowse link
G Calb2 calbindin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr19:41,482,743...41,509,617
Ensembl chr19:41,482,728...41,509,658
JBrowse link
G Casp1 caspase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 8:2,605,743...2,614,637
Ensembl chr 8:2,604,962...2,614,631
JBrowse link
G Cd68 Cd68 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr10:56,268,726...56,270,605
Ensembl chr10:56,268,720...56,270,640
JBrowse link
G Cd7 Cd7 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr10:110,229,931...110,232,812
Ensembl chr10:110,229,922...110,232,843
JBrowse link
G Clu clusterin ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr15:42,626,612...42,665,858
Ensembl chr15:42,640,146...42,665,857
JBrowse link
G Cntf ciliary neurotrophic factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:11951178 NCBI chr 1:229,599,009...229,601,032
Ensembl chr 1:229,599,009...229,601,032
JBrowse link
G Crebbp CREB binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr10:11,590,994...11,721,039
Ensembl chr10:11,595,044...11,721,039
JBrowse link
G Cst3 cystatin C ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 3:143,219,671...143,223,544
Ensembl chr 3:143,219,686...143,223,615
JBrowse link
G Ctsd cathepsin D ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 1:215,541,570...215,553,446
Ensembl chr 1:215,541,542...215,553,451
JBrowse link
G Dbx1 developing brain homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 1:104,969,218...104,973,648
Ensembl chr 1:104,969,218...104,973,648
JBrowse link
G Dctn1 dynactin subunit 1 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1
ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant
ClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS 1, FAMILIAL
OMIM
ClinVar
PMID:12062019, PMID:12627231, PMID:15326253, PMID:16240349, PMID:16505168, PMID:17824900, PMID:18094236, PMID:18364389, PMID:18812314, PMID:19279216, PMID:19506225, PMID:22777741, PMID:23143281, PMID:23881933, PMID:24484619, PMID:24627108, PMID:24881494, PMID:25025039, PMID:25299611, PMID:25382069, PMID:25741868, PMID:26392352, PMID:26429889, PMID:26467025, PMID:26662454, PMID:27132499, PMID:27573046, PMID:28130640, PMID:28430856, PMID:28492532, PMID:28717666, PMID:28792508, PMID:29089398, PMID:29339765, PMID:29525180 NCBI chr 4:114,876,770...114,896,567
Ensembl chr 4:114,876,770...114,896,573
JBrowse link
G Fancg FA complementation group G ISO ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1
ClinVar PMID:11438206, PMID:16643430, PMID:24728327, PMID:25741868, PMID:28492532 NCBI chr 5:58,448,060...58,456,416
Ensembl chr 5:58,448,822...58,455,819
JBrowse link
G Fgf6 fibroblast growth factor 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 4:159,563,798...159,572,333
Ensembl chr 4:159,563,798...159,572,333
JBrowse link
G Fig4 FIG4 phosphoinositide 5-phosphatase ISO ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant ClinVar NCBI chr20:45,922,806...46,044,754
Ensembl chr20:45,922,806...46,044,738
JBrowse link
G Fmo1 flavin containing dimethylaniline monoxygenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17127561 NCBI chr13:80,712,885...80,745,095
Ensembl chr13:80,712,882...80,745,347
JBrowse link
G Folh1 folate hydrolase 1 treatment ISO RGD PMID:12876198 RGD:737756 NCBI chr 1:150,323,768...150,395,415
Ensembl chr 1:150,323,768...150,395,415
JBrowse link
G Fos Fos proto-oncogene, AP-1 transcription factor subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 6:109,300,433...109,303,299
Ensembl chr 6:109,300,433...109,303,299
JBrowse link
G Fus FUS RNA binding protein ISO ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant ClinVar NCBI chr 1:199,412,805...199,426,705
Ensembl chr 1:199,412,834...199,426,702
JBrowse link
G Gabra1 gamma-aminobutyric acid type A receptor subunit alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr10:27,310,718...27,371,802
Ensembl chr10:27,310,725...27,366,665
JBrowse link
G Gbx2 gastrulation brain homeobox 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 9:97,063,265...97,065,855
Ensembl chr 9:97,063,728...97,065,817
JBrowse link
G Gdi1 GDP dissociation inhibitor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr  X:156,400,734...156,407,396
Ensembl chr  X:156,400,736...156,407,404
JBrowse link
G Gfap glial fibrillary acidic protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr10:90,990,762...90,999,435
Ensembl chr10:90,990,762...90,999,506
JBrowse link
G Gria3 glutamate ionotropic receptor AMPA type subunit 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15264227 NCBI chr  X:127,561,843...127,829,763
Ensembl chr  X:127,562,660...127,829,753
JBrowse link
G Gsx2 GS homeobox 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr14:35,650,985...35,652,709
Ensembl chr14:35,650,985...35,652,709
JBrowse link
G Hsf1 heat shock transcription factor 1 ISO CTD Direct Evidence: therapeutic CTD PMID:24256636 NCBI chr 7:117,538,523...117,565,478
Ensembl chr 7:117,538,523...117,565,478
JBrowse link
G Ina internexin neuronal intermediate filament protein, alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 1:266,782,835...266,794,389
Ensembl chr 1:266,781,617...266,794,431
JBrowse link
G Jak3 Janus kinase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr16:20,107,471...20,120,678
Ensembl chr16:20,109,200...20,120,668
JBrowse link
G Jund JunD proto-oncogene, AP-1 transcription factor subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr16:20,485,028...20,486,707
Ensembl chr16:20,485,029...20,486,707
JBrowse link
G Kif3c kinesin family member 3C ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 6:27,768,943...27,815,611
Ensembl chr 6:27,768,943...27,815,611
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 7:70,515,832...70,552,897
Ensembl chr 7:70,513,343...70,556,827
JBrowse link
G Kif5c kinesin family member 5C ISO mRNA:increased expression:frontal cortex, cerebellum (mouse) RGD PMID:23006449 RGD:12798528 NCBI chr 3:35,014,157...35,257,417
Ensembl chr 3:35,014,538...35,257,407
JBrowse link
G Lat linker for activation of T cells ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 1:197,765,644...197,770,669
Ensembl chr 1:197,765,644...197,770,669
JBrowse link
G Ldlr low density lipoprotein receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 8:22,750,425...22,773,305
Ensembl chr 8:22,750,336...22,774,903
JBrowse link
G Masp2 mannan-binding lectin serine peptidase 2 ISO ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant ClinVar PMID:24033266, PMID:28492532 NCBI chr 5:165,415,105...165,429,857
Ensembl chr 5:165,415,136...165,430,054
JBrowse link
G Mt1 metallothionein 1 ISO CTD Direct Evidence: therapeutic CTD PMID:24163136 NCBI chr19:11,301,991...11,303,007
Ensembl chr17:78,793,336...78,793,724
JBrowse link
G Nefh neurofilament heavy ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 OMIM
ClinVar
PMID:25741868, PMID:28492532 NCBI chr14:85,181,572...85,191,557
Ensembl chr14:85,181,572...85,191,557
JBrowse link
G Otog otogelin ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 1:102,258,124...102,327,201
Ensembl chr 1:102,258,124...102,327,201
JBrowse link
G Pdgfa platelet derived growth factor subunit A ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr12:17,734,141...17,756,186
Ensembl chr12:17,734,133...17,755,285
JBrowse link
G Penk proenkephalin ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 5:17,056,412...17,061,762
Ensembl chr 5:17,056,419...17,061,837
JBrowse link
G Pon1 paraoxonase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17204329 NCBI chr 4:30,249,749...30,276,297
Ensembl chr 4:30,249,742...30,276,372
JBrowse link
G Prph peripherin ISO OMIM NCBI chr 7:140,742,406...140,746,197
Ensembl chr 7:140,742,418...140,746,197
JBrowse link
G Rxra retinoid X receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 3:6,272,560...6,295,354
Ensembl chr 3:6,211,789...6,295,908
JBrowse link
G Selplg selectin P ligand ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr12:48,577,905...48,579,196
Ensembl chr12:48,577,905...48,579,196
JBrowse link
G Serpina3n serine (or cysteine) peptidase inhibitor, clade A, member 3N ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 6:128,073,344...128,080,878
Ensembl chr 6:127,941,526...128,080,889
JBrowse link
G Setx senataxin ISO ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant ClinVar PMID:23757202, PMID:25741868, PMID:28492532 NCBI chr 3:7,680,430...7,731,815
Ensembl chr 3:7,686,503...7,730,539
JBrowse link
G Shc1 SHC adaptor protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 2:188,745,503...188,757,066
Ensembl chr 2:188,745,503...188,757,066
JBrowse link
G Six2 SIX homeobox 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 6:8,952,572...8,955,893
Ensembl chr 6:8,952,572...8,956,276
JBrowse link
G Snai1 snail family transcriptional repressor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 3:164,274,710...164,279,199
Ensembl chr 3:164,274,710...164,279,378
JBrowse link
G Sncg synuclein, gamma ISS OMIM:105400 MouseDO NCBI chr16:10,722,110...10,726,648
Ensembl chr16:10,722,106...10,726,707
JBrowse link
G Sod1 superoxide dismutase 1 ISO 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 1, autosomal recessive
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant
ClinVar Annotator: match by OMIM:105400
DNA:missense mutation:cds:p.D90A (human)
DNA:missense mutations:cds:multiple (human)
DNA:missense mutation:cds:p.I113T (human)
OMIM
ClinVar
CTD
PMID:1259395, PMID:7496169, PMID:7501156, PMID:7635196, PMID:7643359, PMID:7647793, PMID:7655469, PMID:7655471, PMID:7673954, PMID:7755363, PMID:7836951, PMID:7887412, PMID:7891072, PMID:7911198, PMID:7951249, PMID:7985500, PMID:7997024, PMID:8004110, PMID:8058797, PMID:8069312, PMID:8105280, PMID:8179602, PMID:8298637, PMID:8351519, PMID:8446170, PMID:8528216, PMID:8560268, PMID:8572658, PMID:8650157, PMID:8682505, PMID:8813280, PMID:8830861, PMID:8875253, PMID:8900247, PMID:8909456, PMID:8938700, PMID:8967745, PMID:8990014, PMID:9008494, PMID:9029070, PMID:9052802, PMID:9101297, PMID:9228005, PMID:9365366, PMID:9455977, PMID:9506558, PMID:9706719, PMID:9743498, PMID:9817920, PMID:9857958, PMID:10400992, PMID:10430435, PMID:10439968, PMID:10624810, PMID:10732812, PMID:10735277, PMID:10764647, PMID:10809943, PMID:10889018, PMID:11181815, PMID:11220750, PMID:11284995, PMID:11346368, PMID:11369193, PMID:11464950, PMID:11467054, PMID:11675877, PMID:11676987, PMID:11796754, PMID:11951178, PMID:12127151, PMID:12165567, PMID:12358759, PMID:12402272, PMID:12442272, PMID:12482932, PMID:12729761, PMID:12732844, PMID:12783432, PMID:12792143, PMID:12963370, PMID:13129804, PMID:13804989, PMID:14506936, PMID:14623191, PMID:14658402, PMID:14755739, PMID:14875225, PMID:14970233, PMID:15056757, PMID:15069187, PMID:15096637, PMID:15258228, PMID:15264227, PMID:15522870, PMID:15579468, PMID:15634772, PMID:15843422, PMID:15952898, PMID:15987780, PMID:16020530, PMID:16038516, PMID:16105836, PMID:16291929, PMID:16476815, PMID:16674979, PMID:16793335, PMID:16945901, PMID:17146286, PMID:17255946, PMID:17257622, PMID:17319283, PMID:17333220, PMID:17394531, PMID:17420412, PMID:17453632, PMID:17486090, PMID:17543992, PMID:18055113, PMID:18301754, PMID:18319614, PMID:18428003, PMID:18504130, PMID:18608106, PMID:18666828, PMID:18669821, PMID:18951903, PMID:19139308, PMID:19176896, PMID:19196430, PMID:19227972, PMID:19259395, PMID:19332692, PMID:19363716, PMID:19483195, PMID:19618436, PMID:19635794, PMID:19685200, PMID:19703565, PMID:19751676, PMID:19800308, PMID:19815002, PMID:19847927, PMID:19922148, PMID:19965850, PMID:20079423, PMID:20184515, PMID:20184519, PMID:20184521, PMID:20184893, PMID:20189984, PMID:20309572, PMID:20385392, PMID:20399791, PMID:20404329, PMID:20404910, PMID:20460594, PMID:20472325, PMID:20485746, PMID:20540686, PMID:20562451, PMID:20577002, PMID:20801718, PMID:21140194, PMID:21226712, PMID:21257910, PMID:21329474, PMID:21506602, PMID:21549128, PMID:21549454, PMID:21603025, PMID:21651514, PMID:21700707, PMID:21700728, PMID:21901496, PMID:21930207, PMID:22094223, PMID:22264771, PMID:22292843, PMID:22332887, PMID:22475618, PMID:22499346, PMID:22589106, PMID:22595972, PMID:22645277, PMID:22647583, PMID:22670878, PMID:22722621, PMID:22941224, PMID:22985433, PMID:23062701, PMID:23100398, PMID:23118898, PMID:23280792, PMID:23286750, PMID:23291526, PMID:23321002, PMID:23447461, PMID:23541756, PMID:23612299, PMID:23726301, PMID:23760509, PMID:23773010, PMID:23784844, PMID:23792044, PMID:23837654, PMID:23881933, PMID:23949607, PMID:23962495, PMID:24134191, PMID:24139042, PMID:24163136, PMID:24256636, PMID:24325798, PMID:24369116, PMID:24439480, PMID:24472010, PMID:24591457, PMID:24704493, PMID:24769475, PMID:24793051, PMID:24908169, PMID:24971881, PMID:25025039, PMID:25052939, PMID:25096579, PMID:25109764, PMID:25178511, PMID:25299611, PMID:25382069, PMID:25509359, PMID:25578810, PMID:25600987, PMID:25741868, PMID:25792239, PMID:25806427, PMID:26059445, PMID:26069299, PMID:26362407, PMID:26467025, PMID:26694608, PMID:26742954, PMID:26791423, PMID:26843957, PMID:27257061, PMID:27261500, PMID:27584932, PMID:27604643, PMID:27810918, PMID:27884173, PMID:27978769, PMID:28003435, PMID:28089114, PMID:28089144, PMID:28105640, PMID:28222900, PMID:28291249, PMID:28325066, PMID:28401346, PMID:28430856, PMID:28492532, PMID:28620717, PMID:28642336, PMID:28877271, PMID:29367447, PMID:29861044, PMID:30311386, PMID:30637102, PMID:10809943, PMID:8815157, PMID:20184521, PMID:8446170 RGD:8655873, RGD:8655862, RGD:8655618, RGD:737689 NCBI chr11:30,363,282...30,368,858
Ensembl chr11:30,363,280...30,368,862
JBrowse link
G Sod2 superoxide dismutase 2 ISS OMIM:105400 MouseDO NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
JBrowse link
G Tardbp TAR DNA binding protein ISO ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:19411082, PMID:20082726, PMID:20675015, PMID:20708823, PMID:22575358, PMID:24033266, PMID:24477737, PMID:26467025, PMID:28492532 NCBI chr 5:165,432,089...165,442,232
Ensembl chr 5:165,432,095...165,442,048
JBrowse link
G Tiam1 TIAM Rac1 associated GEF 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr11:29,931,083...30,061,173
Ensembl chr11:29,933,163...30,051,103
JBrowse link
G Tle3 TLE family member 3, transcriptional corepressor ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 8:66,296,509...66,342,186
Ensembl chr 8:66,296,883...66,342,176
JBrowse link
G Tmsb4x thymosin beta 4, X-linked ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr  X:28,593,405...28,617,267
Ensembl chr  X:28,593,405...28,595,395
JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Ubqln2 ubiquilin 2 ISO ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant ClinVar PMID:25741868, PMID:28492532 NCBI chr  X:18,723,313...18,726,732
Ensembl chr  X:18,723,341...18,726,732
JBrowse link
G Vapb VAMP associated protein B and C ISO ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant ClinVar NCBI chr 3:171,832,558...171,871,042
Ensembl chr 3:171,832,500...171,868,647
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:28492532 NCBI chr 5:58,426,548...58,445,953
Ensembl chr 5:58,426,549...58,445,953
JBrowse link
G Vegfa vascular endothelial growth factor A ISS OMIM:105400 MouseDO NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
JBrowse link
G Vim vimentin ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr17:80,882,715...80,891,200
Ensembl chr17:80,882,666...80,891,212
JBrowse link
G Vps54 VPS54 subunit of GARP complex ISS OMIM:105400 MouseDO NCBI chr14:106,153,407...106,207,715
Ensembl chr14:106,153,575...106,207,658
JBrowse link
G Wnt7a Wnt family member 7A ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 4:122,994,425...123,040,609
Ensembl chr 4:122,994,425...123,040,609
JBrowse link
G Xiap X-linked inhibitor of apoptosis ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr  X:128,409,425...128,455,786
Ensembl chr  X:128,409,472...128,453,000
JBrowse link
amyotrophic lateral sclerosis type 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Masp2 mannan-binding lectin serine peptidase 2 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 10 ClinVar NCBI chr 5:165,415,105...165,429,857
Ensembl chr 5:165,415,136...165,430,054
JBrowse link
G Tardbp TAR DNA binding protein ISO 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 OMIM:612069
OMIM
ClinVar
PMID:18068872, PMID:18288693, PMID:18309045, PMID:18372902, PMID:18396105, PMID:18438952, PMID:18505686, PMID:18545701, PMID:18779421, PMID:18802454, PMID:18931000, PMID:19204172, PMID:19224587, PMID:19228676, PMID:19236453, PMID:19350673, PMID:19411082, PMID:19429692, PMID:19465477, PMID:19515851, PMID:19609911, PMID:19618195, PMID:19695877, PMID:19760257, PMID:19786775, PMID:19808791, PMID:19864663, PMID:19959528, PMID:20031275, PMID:20082726, PMID:20154440, PMID:20301761, PMID:20472325, PMID:20555136, PMID:20558945, PMID:20577002, PMID:20600671, PMID:20624952, PMID:20645878, PMID:20675015, PMID:20697052, PMID:20708823, PMID:20806063, PMID:21123567, PMID:21173160, PMID:21220647, PMID:21403029, PMID:21438137, PMID:21752789, PMID:21829392, PMID:22406069, PMID:22456481, PMID:22539580, PMID:22563080, PMID:22575358, PMID:22645277, PMID:23231971, PMID:23235148, PMID:23327806, PMID:23345247, PMID:23401527, PMID:23457265, PMID:23827948, PMID:24117534, PMID:24143176, PMID:24300238, PMID:24477737, PMID:24507191, PMID:25442115, PMID:25588603, PMID:25741868, PMID:26096467, PMID:26467025, PMID:26777436, PMID:26883171, PMID:28089114, PMID:28286471, PMID:28335005, PMID:28430856, PMID:28492532, PMID:28709720, PMID:28889094, PMID:31124595 NCBI chr 5:165,432,089...165,442,232
Ensembl chr 5:165,432,095...165,442,048
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
ClinVar Annotator: match by OMIM:612577
OMIM
ClinVar
PMID:17572665, PMID:18180444, PMID:18261132, PMID:18556664, PMID:19118816, PMID:20630877, PMID:21655088, PMID:21705420, PMID:22131434, PMID:22998443, PMID:23336365, PMID:23489662, PMID:24878229, PMID:25510381, PMID:25614874, PMID:25617005, PMID:25741868, PMID:26467025, PMID:28051077, PMID:28492532, PMID:29342275, PMID:29650794, PMID:30311386 NCBI chr20:45,922,806...46,044,754
Ensembl chr20:45,922,806...46,044,738
JBrowse link
amyotrophic lateral sclerosis type 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Optn optineurin ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 12 OMIM
ClinVar
PMID:11834836, PMID:11978762, PMID:12208142, PMID:12789137, PMID:12939304, PMID:14597044, PMID:15226658, PMID:15326130, PMID:15761120, PMID:16205626, PMID:16358725, PMID:16619239, PMID:17122126, PMID:17293779, PMID:17615537, PMID:19096531, PMID:19145250, PMID:19172505, PMID:19672125, PMID:20428114, PMID:20671613, PMID:20981092, PMID:21074290, PMID:21217154, PMID:21220178, PMID:21550138, PMID:21613650, PMID:21852022, PMID:22402017, PMID:22708870, PMID:22892313, PMID:22995991, PMID:23062601, PMID:25333069, PMID:25741868, PMID:25943890, PMID:26467025, PMID:26566915, PMID:28492532, PMID:29650794 NCBI chr17:77,167,700...77,218,374
Ensembl chr17:77,167,740...77,218,389
JBrowse link
amyotrophic lateral sclerosis type 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vcp valosin-containing protein ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia
ClinVar Annotator: match by OMIM:613954
OMIM
ClinVar
PMID:15034582, PMID:16247064, PMID:16321991, PMID:16790606, PMID:16984901, PMID:17329348, PMID:17763460, PMID:17889967, PMID:18341608, PMID:19225410, PMID:19237541, PMID:19364651, PMID:19704082, PMID:20008565, PMID:20104022, PMID:20512113, PMID:20604808, PMID:21145000, PMID:21320982, PMID:21387114, PMID:21816654, PMID:21822278, PMID:21920633, PMID:21984748, PMID:22078486, PMID:22137929, PMID:22270372, PMID:22686199, PMID:22898872, PMID:22900631, PMID:22909335, PMID:23029473, PMID:23056506, PMID:23152587, PMID:23169451, PMID:23333620, PMID:23498975, PMID:24196964, PMID:24829604, PMID:25125609, PMID:25388089, PMID:25492614, PMID:25617006, PMID:25618255, PMID:25741868, PMID:25775548, PMID:26105173, PMID:26467025, PMID:26555887, PMID:27209344, PMID:27226613, PMID:27768726, PMID:27790088, PMID:28130640, PMID:28360103, PMID:28430856, PMID:28492532, PMID:28692196, PMID:29754758, PMID:29899994 NCBI chr 5:58,426,548...58,445,953
Ensembl chr 5:58,426,549...58,445,953
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 OMIM:300857
OMIM
ClinVar
PMID:21857683, PMID:24771548, PMID:25333069, PMID:25616961, PMID:25741868, PMID:26075709, PMID:28492532 NCBI chr  X:18,723,313...18,726,732
Ensembl chr  X:18,723,341...18,726,732
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 16, juvenile
ClinVar Annotator: match by OMIM:614373
OMIM
ClinVar
PMID:21842496, PMID:24088041, PMID:25704016, PMID:25741868, PMID:26205306, PMID:26633545, PMID:28492532 NCBI chr 5:58,121,824...58,124,687
Ensembl chr 5:58,121,786...58,124,681
JBrowse link
amyotrophic lateral sclerosis type 17 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: Amyotrophic lateral sclerosis 17
ClinVar Annotator: match by OMIM:614696
OMIM
ClinVar
PMID:16431024, PMID:16807408, PMID:16941655, PMID:20352044, PMID:20592581, PMID:21222599, PMID:25741868, PMID:26836416, PMID:28430856, PMID:28492532, PMID:29431110, PMID:29525180 NCBI chr11:2,666,405...2,692,213
Ensembl chr11:2,665,285...2,692,198
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 OMIM:614808 OMIM
ClinVar
PMID:22801503 NCBI chr10:57,273,003...57,275,708
Ensembl chr10:57,273,005...57,275,708
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 19
ClinVar Annotator: match by OMIM:615515
OMIM
ClinVar
PMID:24119685, PMID:25741868 NCBI chr 9:75,021,790...76,178,936
Ensembl chr 9:75,021,790...75,528,644
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 20 OMIM
ClinVar
PMID:23455423 NCBI chr 7:144,865,302...144,871,592
Ensembl chr 7:144,865,608...144,871,585
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 ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 21
ClinVar Annotator: match by term: Myopathy, distal, 2
ClinVar Annotator: match by OMIM:606070
OMIM
ClinVar
PMID:9837826, PMID:19344878, PMID:24686783, PMID:25154462, PMID:25185957, PMID:25677933, PMID:25741868, PMID:25771394, PMID:25952333, PMID:26467025, PMID:26493020, PMID:26528920, PMID:26780671, PMID:28492532, PMID:29525178 NCBI chr18:28,351,691...28,390,764
Ensembl chr18:28,361,283...28,390,717
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 OMIM:616208 OMIM
ClinVar
PMID:25374358 NCBI chr 9:82,415,599...82,419,918
Ensembl chr 9:82,415,605...82,419,288
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: AMYOTROPHIC LATERAL SCLEROSIS 23 ClinVar
OMIM
PMID:28469040 NCBI chr16:3,867,193...3,912,043
Ensembl chr16:3,867,208...3,912,148
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 susceptibility ISO ClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 24 ClinVar
OMIM
PMID:21211617, PMID:22499340, PMID:23757202, PMID:24033266, PMID:25741868, PMID:26945885, PMID:27455347, PMID:28089114, PMID:28123176, PMID:28492532, PMID:29068549 NCBI chr16:32,321,010...32,439,421
Ensembl chr16:32,321,010...32,439,421
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
OMIM
PMID:29342275, PMID:29566793 NCBI chr 7:70,515,832...70,552,897
Ensembl chr 7:70,513,343...70,556,827
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 ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 6
DNA:mutations:cds:
ClinVar Annotator: match by OMIM:608030
OMIM
ClinVar
PMID:12840784, PMID:12858291, PMID:19251627, PMID:19251628, PMID:19450904, PMID:19741215, PMID:19861302, PMID:20018407, PMID:20124201, PMID:20138404, PMID:20142531, PMID:20385912, PMID:20544928, PMID:20577002, PMID:20579074, PMID:20606625, PMID:20660363, PMID:20668259, PMID:20668261, PMID:20699327, PMID:21158017, PMID:21261515, PMID:21280085, PMID:21604077, PMID:21881207, PMID:21907581, PMID:21943958, PMID:21949354, PMID:22055719, PMID:22292843, PMID:22340366, PMID:22645277, PMID:22722621, PMID:22863194, PMID:22980027, PMID:23046859, PMID:23056579, PMID:23085990, PMID:23577159, PMID:23731953, PMID:23834483, PMID:23881933, PMID:24033266, PMID:24080306, PMID:24204307, PMID:24262168, PMID:24280224, PMID:24439481, PMID:24899262, PMID:24908169, PMID:25173930, PMID:25274782, PMID:25289647, PMID:25324524, PMID:25382069, PMID:25457557, PMID:25585530, PMID:25625564, PMID:25631824, PMID:25741868, PMID:26251528, PMID:26452761, PMID:26467025, PMID:26601740, PMID:26725112, PMID:26795035, PMID:27123482, PMID:28273913, PMID:28492532, PMID:28642336, PMID:30279455, PMID:30349096, PMID:30879340, PMID:19251628 RGD:9685712 NCBI chr 1:199,412,805...199,426,705
Ensembl chr 1:199,412,834...199,426,702
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 3:171,879,728...171,958,155
Ensembl chr 3:171,878,143...171,957,996
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 3:172,563,105...172,566,007
Ensembl chr 3:172,563,105...172,566,010
JBrowse link
G Ctsz cathepsin Z ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 8 ClinVar PMID:28492532 NCBI chr 3:172,527,107...172,537,877
Ensembl chr 3:172,527,107...172,537,877
JBrowse link
G Edn3 endothelin 3 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 8 ClinVar PMID:28492532 NCBI chr 3:172,856,730...172,879,276
Ensembl chr 3:172,856,733...172,880,450
JBrowse link
G Gnas GNAS complex locus ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 8 ClinVar PMID:28492532 NCBI chr 3:172,374,957...172,434,988
Ensembl chr 3:172,374,957...172,428,483
Ensembl chr 3:172,374,957...172,428,483
JBrowse link
G Mir296 microRNA 296 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 8 ClinVar PMID:28492532 NCBI chr 3:172,357,490...172,357,567
Ensembl chr 3:172,357,490...172,357,567
JBrowse link
G Mir298 microRNA 298 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 8 ClinVar PMID:28492532 NCBI chr 3:172,357,943...172,358,024
Ensembl chr 3:172,357,943...172,358,024
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 3:172,510,840...172,527,118
Ensembl chr 3:172,510,874...172,526,740
JBrowse link
G Npepl1 aminopeptidase-like 1 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 8 ClinVar PMID:28492532 NCBI chr 3:172,195,115...172,207,685
Ensembl chr 3:172,195,844...172,207,685
JBrowse link
G Prelid3b PRELI domain containing 3B ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 8 ClinVar PMID:28492532 NCBI chr 3:172,567,092...172,574,382
Ensembl chr 3:172,567,732...172,574,333
JBrowse link
G Stx16 syntaxin 16 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 8 ClinVar PMID:28492532 NCBI chr 3:172,154,739...172,183,699
Ensembl chr 3:172,154,754...172,183,732
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 3:172,550,252...172,558,089
Ensembl chr 3:172,550,258...172,558,114
JBrowse link
G Vapb VAMP associated protein B and C ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 8
ClinVar Annotator: match by OMIM:608627
OMIM
ClinVar
PMID:15372378, PMID:16187141, PMID:16967488, PMID:17804640, PMID:18322265, PMID:18677189, PMID:19183264, PMID:20008544, PMID:20377183, PMID:20447143, PMID:20577002, PMID:20940299, PMID:21275991, PMID:21685205, PMID:21933185, PMID:22131369, PMID:22258555, PMID:22454507, PMID:22878164, PMID:23333387, PMID:23446633, PMID:23771029, PMID:23971766, PMID:24212516, PMID:24681403, PMID:25741868, PMID:26362251, PMID:26467025, PMID:26566915, PMID:27978769, PMID:28492532 NCBI chr 3:171,832,558...171,871,042
Ensembl chr 3:171,832,500...171,868,647
JBrowse link
G Zfp831 zinc finger protein 831 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 8 ClinVar PMID:28492532 NCBI chr 3:172,691,455...172,804,804
Ensembl chr 3:172,692,452...172,804,916
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: Amyotrophic lateral sclerosis type 9
ClinVar Annotator: match by OMIM:611895
OMIM
ClinVar
PMID:16501576, PMID:17462671, PMID:17703939, PMID:17886298, PMID:17900154, PMID:18087731, PMID:18852347, PMID:19153377, PMID:19363631, PMID:19444281, PMID:19449021, PMID:19488901, PMID:20577002, PMID:22190368, PMID:22292843, PMID:22384259, PMID:22499346, PMID:22522484, PMID:22645277, PMID:23047679, PMID:23155438, PMID:23447461, PMID:23463871, PMID:23665167, PMID:25382069, PMID:25741868, PMID:26255299, PMID:26467025, PMID:28444446, PMID:28492532 NCBI chr15:28,022,926...28,028,636 JBrowse link
G Rnase4 ribonuclease A family member 4 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 9
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 9
ClinVar PMID:16501576, PMID:17462671, PMID:17703939, PMID:17886298, PMID:17900154, PMID:18087731, PMID:18852347, PMID:19153377, PMID:19363631, PMID:19444281, PMID:19449021, PMID:19488901, PMID:20577002, PMID:22190368, PMID:22292843, PMID:22384259, PMID:22499346, PMID:22522484, PMID:22645277, PMID:23047679, PMID:23155438, PMID:23447461, PMID:23463871, PMID:23665167, PMID:25382069, PMID:25741868, PMID:26255299, PMID:26467025, PMID:28444446, PMID:28492532 NCBI chr15:28,018,040...28,035,395
Ensembl chr15:28,018,040...28,035,389
Ensembl chr15:28,018,040...28,035,389
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:28492532 NCBI chr 9:65,961,361...66,034,396
Ensembl chr 9:65,961,346...66,033,871
JBrowse link
G Optn optineurin ISO ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Recessive ClinVar NCBI chr17:77,167,700...77,218,374
Ensembl chr17:77,167,740...77,218,389
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 5:167,982,438...168,004,724
Ensembl chr 5:167,982,439...168,004,724
JBrowse link
G Trpm7 transient receptor potential cation channel, subfamily M, member 7 susceptibility
no_association
ISO DNA:mutation:cds: p.T1482I (human)
CTD Direct Evidence: marker/mechanism
CTD
OMIM
PMID:16051700, PMID:19405049 RGD:5685005, RGD:5685008 NCBI chr 3:119,258,189...119,347,084
Ensembl chr 3:119,259,467...119,330,345
JBrowse link
ataxia telangiectasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acat1 acetyl-CoA acetyltransferase 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:28492532 NCBI chr 8:58,166,990...58,195,884
Ensembl chr 8:58,166,990...58,195,884
JBrowse link
G Atm ATM serine/threonine kinase ISO
IMP
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
DNA:deletion:exon:
ClinVar Annotator: match by OMIM:208900
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:1953577, PMID:2491181, PMID:2557216, PMID:2798560, PMID:3338800, PMID:6504056, PMID:7792600, PMID:7836845, PMID:8659541, PMID:8665503, PMID:8698354, PMID:8755918, PMID:8789452, PMID:8797579, PMID:8808599, PMID:8845835, PMID:8923007, PMID:8958160, PMID:8968760, PMID:9000145, PMID:9043869, PMID:9054948, PMID:9121450, PMID:9150358, PMID:9244351, PMID:9288106, PMID:9334731, PMID:9443866, PMID:9450874, PMID:9450906, PMID:9463314, PMID:9488043, PMID:9497252, PMID:9600235, PMID:9622061, PMID:9682216, PMID:9711876, PMID:9733514, PMID:9764584, PMID:9792409, PMID:9792410, PMID:9872980, PMID:9887333, PMID:9892178, PMID:10023947, PMID:10234507, PMID:10330348, PMID:10397742, PMID:10416970, PMID:10425038, PMID:10464642, PMID:10534763, PMID:10607471, PMID:10677309, PMID:10706620, PMID:10738255, PMID:10767628, PMID:10817650, PMID:10864201, PMID:10873394, PMID:10980530, PMID:11054065, PMID:11173867, PMID:11298136, PMID:11382771, PMID:11443540, PMID:11468183, PMID:11505391, PMID:11507241, PMID:11507245, PMID:11516106, PMID:11526498, PMID:11606401, PMID:11746755, PMID:11756177, PMID:11756185, PMID:11805335, PMID:11821961, PMID:11826028, PMID:11830610, PMID:11839094, PMID:11849780, PMID:11857346, PMID:11889466, PMID:11897820, PMID:11897822, PMID:11996792, PMID:12072877, PMID:12091354, PMID:12149228, PMID:12195425, PMID:12362033, PMID:12473176, PMID:12473594, PMID:12497634, PMID:12511424, PMID:12552559, PMID:12552566, PMID:12637545, PMID:12646636, PMID:12655570, PMID:12673794, PMID:12673797, PMID:12673804, PMID:12697903, PMID:12745884, PMID:12810666, PMID:12815592, PMID:12882767, PMID:12883528, PMID:12917204, PMID:12935922, PMID:12935933, PMID:12969974, PMID:14562025, PMID:14586414, PMID:14634505, PMID:14643952, PMID:14654357, PMID:14695186, PMID:14695534, PMID:14695997, PMID:14735203, PMID:14754616, PMID:14970866, PMID:15039971, PMID:15042666, PMID:15054841, PMID:15101044, PMID:15159313, PMID:15164409, PMID:15174027, PMID:15177039, PMID:15196260, PMID:15217508, PMID:15279807, PMID:15279808, PMID:15280931, PMID:15390180, PMID:15450731, PMID:15498871, PMID:15629612, PMID:15643608, PMID:15696190, PMID:15713674, PMID:15756685, PMID:15824023, PMID:15824150, PMID:15843990, PMID:15880680, PMID:15880721, PMID:15928302, PMID:16014569, PMID:16035317, PMID:16112413, PMID:16140923, PMID:16167060, PMID:16189143, PMID:16238588, PMID:16266405, PMID:16380133, PMID:16387360, PMID:16411093, PMID:16461462, PMID:16574953, PMID:16603769, PMID:16631465, PMID:16652348, PMID:16741161, PMID:16832357, PMID:16864838, PMID:16914028, PMID:16941484, PMID:16958054, PMID:16998505, PMID:17001622, PMID:17023046, PMID:17124347, PMID:17132159, PMID:17166884, PMID:17187232, PMID:17203191, PMID:17298726, PMID:17333338, PMID:17341484, PMID:17344846, PMID:17351744, PMID:17376192, PMID:17393301, PMID:17490827, PMID:17517479, PMID:17535973, PMID:17540590, PMID:17623063, PMID:17640065, PMID:17699107, PMID:17876757, PMID:17910737, PMID:17968022, PMID:17985259, PMID:18066086, PMID:18164969, PMID:18174244, PMID:18261794, PMID:18321536, PMID:18384426, PMID:18414213, PMID:18431795, PMID:18433505, PMID:18497957, PMID:18502988, PMID:18504682, PMID:18560558, PMID:18565893, PMID:18573109, PMID:18575927, PMID:18634022, PMID:18701470, PMID:18807267, PMID:18813293, PMID:18846412, PMID:19018867, PMID:19147735, PMID:19347964, PMID:19404735, PMID:19431188, PMID:19440741, PMID:19535770, PMID:19605768, PMID:19638463, PMID:19683821, PMID:19691550, PMID:19705055, PMID:19763152, PMID:19770270, PMID:19773425, PMID:19781682, PMID:19823873, PMID:20077034, PMID:20124459, PMID:20153123, PMID:20232390, PMID:20301790, PMID:20305132, PMID:20307669, PMID:20308662, PMID:20346647, PMID:20480175, PMID:20544271, PMID:20678261, PMID:20717907, PMID:20826828, PMID:20840352, PMID:20927582, PMID:20945614, PMID:20966255, PMID:20981092, PMID:21150274, PMID:21164480, PMID:21346221, PMID:21354641, PMID:21445571, PMID:21447618, PMID:21459046, PMID:21514219, PMID:21520333, PMID:21593342, PMID:21665257, PMID:21681852, PMID:21778326, PMID:21787400, PMID:21792198, PMID:21833744, PMID:21910157, PMID:21933854, PMID:21965147, PMID:21993670, PMID:22006793, PMID:22017321, PMID:22071889, PMID:22130802, PMID:22146522, PMID:22200977, PMID:22213089, PMID:22250480, PMID:22345219, PMID:22369572, PMID:22406018, PMID:22420423, PMID:22438227, PMID:22527104, PMID:22529920, PMID:22585167, PMID:22585170, PMID:22649200, PMID:22674506, PMID:22763152, PMID:22869595, PMID:22895193, PMID:22927201, PMID:22927308, PMID:22952040, PMID:22995991, PMID:23074045, PMID:23075580, PMID:23091097, PMID:23142947, PMID:23143971, PMID:23264026, PMID:23322442, PMID:23360865, PMID:23369113, PMID:23376243, PMID:23454770, PMID:23532176, PMID:23555315, PMID:23561644, PMID:23566627, PMID:23585368, PMID:23585524, PMID:23612382, PMID:23632773, PMID:23640770, PMID:23652012, PMID:23667852, PMID:23671275, PMID:23726790, PMID:23761041, PMID:23774824, PMID:23807571, PMID:23836671, PMID:23946315, PMID:23960188, PMID:24033266, PMID:24088041, PMID:24090759, PMID:24113346, PMID:24120321, PMID:24142997, PMID:24172824, PMID:24197801, PMID:24201163, PMID:24204193, PMID:24325359, PMID:24326041, PMID:24356096, PMID:24368146, PMID:24405665, PMID:24416720, PMID:24422204, PMID:24448499, PMID:24451234, PMID:24512911, PMID:24549055, PMID:24556621, PMID:24568663, PMID:24628946, PMID:24643969, PMID:24682267, PMID:24695838, PMID:24728327, PMID:24733792, PMID:24763289, PMID:24789685, PMID:24825865, PMID:24831771, PMID:24886963, PMID:24935205, PMID:24951259, PMID:25032865, PMID:25037873, PMID:25040471, PMID:25042771, PMID:25058500, PMID:25077176, PMID:25101980, PMID:25117502, PMID:25122203, PMID:25133958, PMID:25148578, PMID:25151137, PMID:25159481, PMID:25182519, PMID:25186627, PMID:25231023, PMID:25232094, PMID:25257301, PMID:25275298, PMID:25303977, PMID:25318351, PMID:25320358, PMID:25326635, PMID:25330149, PMID:25356970, PMID:25374739, PMID:25428789, PMID:25452441, PMID:25460276, PMID:25479140, PMID:25480502, PMID:25502423, PMID:25503501, PMID:25523272, PMID:25525159, PMID:25587027, PMID:25589003, PMID:25614872, PMID:25625042, PMID:25741868, PMID:25749350, PMID:25793145, PMID:25862857, PMID:25877891, PMID:25882375, PMID:25914063, PMID:25925381, PMID:25925954, PMID:25938944, PMID:25957637, PMID:25980754, PMID:26009992, PMID:26010451, PMID:26022348, PMID:26023681, PMID:26053404, PMID:26085511, PMID:26094658, PMID:26098866, PMID:26112015, PMID:26123645, PMID:26155992, PMID:26164066, PMID:26182300, PMID:26206375, PMID:26207792, PMID:26214590, PMID:26220245, PMID:26246601, PMID:26247737, PMID:26250988, PMID:26270727, PMID:26296696, PMID:26296701, PMID:26320869, PMID:26344566, PMID:26380989, PMID:26439923, PMID:26467025, PMID:26483394, PMID:26506520, PMID:26530882, PMID:26534844, PMID:26556299, PMID:26580448, PMID:26628246, PMID:26633542, PMID:26633545, PMID:26635394, PMID:26662178, PMID:26667234, PMID:26677768, PMID:26681312, PMID:26689913, PMID:26692440, PMID:26693373, PMID:26757417, PMID:26771497, PMID:26778106, PMID:26787654, PMID:26822949, PMID:26824983, PMID:26837699, PMID:26845104, PMID:26846839, PMID:26878173, PMID:26898890, PMID:26901136, PMID:26911350, PMID:26915675, PMID:26917275, PMID:26976419, PMID:27016235, PMID:27034805, PMID:27039262, PMID:27064202, PMID:27067391, PMID:27083775, PMID:27093186, PMID:27121310, PMID:27146902, PMID:27149842, PMID:27150160, PMID:27153395, PMID:27159176, PMID:27276934, PMID:27304073, PMID:27413114, PMID:27433846, PMID:27443514, PMID:27449771, PMID:27460089, PMID:27479817, PMID:27484032, PMID:27498913, PMID:27528516, PMID:27553368, PMID:27581129, PMID:27595995, PMID:27599564, PMID:27602502, PMID:27616075, PMID:27621404, PMID:27664052, PMID:27671921, PMID:27720647, PMID:27732944, PMID:27779110, PMID:27782108, PMID:27798748, PMID:27803004, PMID:27844328, PMID:27854218, PMID:27871447, PMID:27873105, PMID:27878467, PMID:27884168, PMID:27913932, PMID:27932211, PMID:27959900, PMID:27978560, PMID:27980538, PMID:27988859, PMID:27989354, PMID:27997549, PMID:28007021, PMID:28008555, PMID:28051113, PMID:28076423, PMID:28093192, PMID:28093616, PMID:28126470, PMID:28135048, PMID:28135145, PMID:28152038, PMID:28170084, PMID:28182994, PMID:28188106, PMID:28195393, PMID:28202063, PMID:28211887, PMID:28281021, PMID:28282032, PMID:28338653, PMID:28423363, PMID:28440963, PMID:28486781, PMID:28492530, PMID:28492532, PMID:28497333, PMID:28503720, PMID:28528518, PMID:28569218, PMID:28580595, PMID:28591191, PMID:28608266, PMID:28640387, PMID:28652578, PMID:28657667, PMID:28687356, PMID:28687971, PMID:28716242, PMID:28717660, PMID:28724667, PMID:28726808, PMID:28767289, PMID:28779002, PMID:28825054, PMID:28828701, PMID:28830922, PMID:28843361, PMID:28849312, PMID:28873162, PMID:28875981, PMID:28878254, PMID:28894253, PMID:28956312, PMID:28975018, PMID:28975465, PMID:29036293, PMID:29059438, PMID:29101607, PMID:29141312, PMID:29271107, PMID:29335925, PMID:29360161, PMID:29368341, PMID:29371908, PMID:29415044, PMID:29423082, PMID:29449433, PMID:29458332, PMID:29470806, PMID:29478780, PMID:29482223, PMID:29486991, PMID:29487225, PMID:29506079, PMID:29506128, PMID:29522266, PMID:29555771, PMID:29566657, PMID:29596542, PMID:29600275, PMID:29641532, PMID:29642553, PMID:29659569, PMID:29664460, PMID:29665859, PMID:29667044, PMID:29678143, PMID:29684080, PMID:29719442, PMID:29752822, PMID:29753700, PMID:29778231, PMID:29785153, PMID:29789584, PMID:29866652, PMID:29888287, PMID:29909963, PMID:29915322, PMID:29922827, PMID:29945567, PMID:29946849, PMID:29954938, PMID:30067863, PMID:30086788, PMID:30093976, PMID:30128536, PMID:30197789, PMID:30214756, PMID:30233647, PMID:30256826, PMID:30262796, PMID:30287823, PMID:30303537, PMID:30306255, PMID:30309722, PMID:30311386, PMID:30363071, PMID:30374176, PMID:30389154, PMID:30402232, PMID:30426508, PMID:30447919, PMID:30482293, PMID:30504431, PMID:30537493, PMID:30549301, PMID:30553997, PMID:30584090, PMID:30607632, PMID:30620386, PMID:30651582, PMID:30666157, PMID:30713859, PMID:30713931, PMID:30723761, PMID:30730459, PMID:30814645, PMID:30819809, PMID:30883245, PMID:30927251, PMID:30938815, PMID:30982232, PMID:30995915, PMID:31050087, PMID:31054420, PMID:31118792, PMID:31125277, PMID:31139954, PMID:31159747, PMID:31160347, PMID:31227566, PMID:31263571, PMID:31360874, PMID:31428572, PMID:31666926, PMID:31742824, PMID:31815095, PMID:31843900, PMID:31867841, PMID:31919090, PMID:32183364, PMID:32566746, PMID:197781682, PMID:28007901, PMID:19626507 RGD:12879399, RGD:10053611 NCBI chr 8:58,015,938...58,119,973
Ensembl chr 8:58,015,940...58,120,045
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 chr20:5,609,620...5,618,899
Ensembl chr20:5,609,625...5,618,260
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 1:101,451,801...101,457,207
Ensembl chr 1:101,451,802...101,457,207
JBrowse link
G Bik BCL2-interacting killer susceptibility ISO DNA:deletion:intron:IVS4-12delTC(human) RGD PMID:19898928 RGD:14394817 NCBI chr 7:124,390,924...124,410,449
Ensembl chr 7:124,391,432...124,410,447
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 9:99,052,945...99,299,715
Ensembl chr 9:99,057,089...99,299,715
JBrowse link
G Ifng interferon gamma ISO RGD PMID:6432389 RGD:8693328 NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
JBrowse link
G Il2 interleukin 2 ISO RGD PMID:6432389 RGD:8693328 NCBI chr 2:123,847,150...123,851,854
Ensembl chr 2:123,847,150...123,851,854
JBrowse link
G Il6 interleukin 6 severity ISO RGD PMID:26851119 RGD:11529801 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G Npat nuclear protein, co-activator of histone transcription ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:28492532 NCBI chr 8:58,120,179...58,158,052
Ensembl chr 8:58,120,179...58,158,052
JBrowse link
G RGD1311251 similar to RIKEN cDNA 4930550C14 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: AT, COMPLEMENTATION GROUP C
ClinVar PMID:2557216, PMID:3338800, PMID:6504056, PMID:7792600, PMID:8659541, PMID:8665503, PMID:8698354, PMID:8755918, PMID:8797579, PMID:8808599, PMID:8845835, PMID:8923007, PMID:9000145, PMID:9043869, PMID:9054948, PMID:9150358, PMID:9244351, PMID:9288106, PMID:9334731, PMID:9443866, PMID:9450874, PMID:9463314, PMID:9488043, PMID:9497252, PMID:9622061, PMID:9682216, PMID:9711876, PMID:9733514, PMID:9764584, PMID:9792409, PMID:9792410, PMID:9872980, PMID:9887333, PMID:10023947, PMID:10234507, PMID:10330348, PMID:10397742, PMID:10416970, PMID:10425038, PMID:10464642, PMID:10534763, PMID:10706620, PMID:10738255, PMID:10817650, PMID:10864201, PMID:10873394, PMID:10980530, PMID:11054065, PMID:11298136, PMID:11382771, PMID:11443540, PMID:11468183, PMID:11505391, PMID:11606401, PMID:11746755, PMID:11756177, PMID:11756185, PMID:11805335, PMID:11826028, PMID:11830610, PMID:11849780, PMID:11857346, PMID:11897822, PMID:12091354, PMID:12149228, PMID:12195425, PMID:12473594, PMID:12497634, PMID:12511424, PMID:12552559, PMID:12552566, PMID:12646636, PMID:12655570, PMID:12673797, PMID:12673804, PMID:12697903, PMID:12745884, PMID:12810666, PMID:12815592, PMID:12882767, PMID:12883528, PMID:12917204, PMID:12935922, PMID:12969974, PMID:14586414, PMID:14654357, PMID:14754616, PMID:14970866, PMID:15039971, PMID:15101044, PMID:15159313, PMID:15174027, PMID:15279808, PMID:15390180, PMID:15696190, PMID:15756685, PMID:15843990, PMID:15880721, PMID:15928302, PMID:16014569, PMID:16140923, PMID:16189143, PMID:16238588, PMID:16266405, PMID:16380133, PMID:16387360, PMID:16411093, PMID:16461462, PMID:16603769, PMID:16631465, PMID:16652348, PMID:16832357, PMID:16864838, PMID:16914028, PMID:16941484, PMID:16958054, PMID:17001622, PMID:17124347, PMID:17132159, PMID:17166884, PMID:17298726, PMID:17333338, PMID:17344846, PMID:17376192, PMID:17393301, PMID:17517479, PMID:17540590, PMID:17623063, PMID:17640065, PMID:17910737, PMID:17968022, PMID:18066086, PMID:18321536, PMID:18384426, PMID:18414213, PMID:18431795, PMID:18497957, PMID:18504682, PMID:18560558, PMID:18573109, PMID:18575927, PMID:18634022, PMID:18807267, PMID:18813293, PMID:19018867, PMID:19347964, PMID:19404735, PMID:19431188, PMID:19440741, PMID:19535770, PMID:19605768, PMID:19691550, PMID:19763152, PMID:19781682, PMID:19823873, PMID:20077034, PMID:20153123, PMID:20232390, PMID:20301790, PMID:20305132, PMID:20307669, PMID:20346647, PMID:20480175, PMID:20840352, PMID:20945614, PMID:20966255, PMID:21150274, PMID:21346221, PMID:21354641, PMID:21445571, PMID:21459046, PMID:21665257, PMID:21778326, PMID:21787400, PMID:21792198, PMID:21833744, PMID:21933854, PMID:21965147, PMID:21993670, PMID:22006793, PMID:22017321, PMID:22071889, PMID:22146522, PMID:22213089, PMID:22250480, PMID:22345219, PMID:22369572, PMID:22406018, PMID:22420423, PMID:22529920, PMID:22585167, PMID:22585170, PMID:22649200, PMID:22674506, PMID:22869595, PMID:22895193, PMID:22952040, PMID:22995991, PMID:23091097, PMID:23142947, PMID:23143971, PMID:23264026, PMID:23322442, PMID:23454770, PMID:23532176, PMID:23555315, PMID:23585368, PMID:23585524, PMID:23632773, PMID:23640770, PMID:23667852, PMID:23671275, PMID:23761041, PMID:23774824, PMID:23807571, PMID:23836671, PMID:23946315, PMID:24033266, PMID:24088041, PMID:24090759, PMID:24172824, PMID:24326041, PMID:24416720, PMID:24448499, PMID:24451234, PMID:24556621, PMID:24628946, PMID:24643969, PMID:24728327, PMID:24733792, PMID:24789685, PMID:24951259, PMID:25032865, PMID:25037873, PMID:25040471, PMID:25042771, PMID:25058500, PMID:25077176, PMID:25117502, PMID:25122203, PMID:25133958, PMID:25148578, PMID:25151137, PMID:25182519, PMID:25186627, PMID:25232094, PMID:25318351, PMID:25320358, PMID:25326635, PMID:25330149, PMID:25374739, PMID:25428789, PMID:25452441, PMID:25460276, PMID:25479140, PMID:25480502, PMID:25502423, PMID:25503501, PMID:25523272, PMID:25525159, PMID:25587027, PMID:25589003, PMID:25614872, PMID:25625042, PMID:25741868, PMID:25793145, PMID:25877891, PMID:25914063, PMID:25925381, PMID:25925954, PMID:25938944, PMID:25957637, PMID:25980754, PMID:26009992, PMID:26022348, PMID:26053404, PMID:26094658, PMID:26182300, PMID:26206375, PMID:26220245, PMID:26246601, PMID:26247737, PMID:26270727, PMID:26296696, PMID:26296701, PMID:26380989, PMID:26439923, PMID:26467025, PMID:26483394, PMID:26506520, PMID:26530882, PMID:26534844, PMID:26556299, PMID:26580448, PMID:26628246, PMID:26633542, PMID:26633545, PMID:26662178, PMID:26677768, PMID:26681312, PMID:26689913, PMID:26692440, PMID:26693373, PMID:26787654, PMID:26822949, PMID:26824983, PMID:26837699, PMID:26845104, PMID:26898890, PMID:26901136, PMID:26915675, PMID:26917275, PMID:26976419, PMID:27083775, PMID:27121310, PMID:27153395, PMID:27159176, PMID:27304073, PMID:27433846, PMID:27443514, PMID:27449771, PMID:27479817, PMID:27498913, PMID:27528516, PMID:27581129, PMID:27595995, PMID:27602502, PMID:27616075, PMID:27621404, PMID:27664052, PMID:27720647, PMID:27732944, PMID:27798748, PMID:27873105, PMID:27878467, PMID:27913932, PMID:27932211, PMID:27959900, PMID:27978560, PMID:27988859, PMID:28007021, PMID:28008555, PMID:28051113, PMID:28093192, PMID:28093616, PMID:28135145, PMID:28152038, PMID:28170084, PMID:28188106, PMID:28195393, PMID:28338653, PMID:28423363, PMID:28486781, PMID:28492532, PMID:28503720, PMID:28580595, PMID:28591191, PMID:28608266, PMID:28652578, PMID:28687356, PMID:28716242, PMID:28717660, PMID:28724667, PMID:28726808, PMID:28767289, PMID:28779002, PMID:28825054, PMID:28828701, PMID:28843361, PMID:28873162, PMID:28875981, PMID:28975465, PMID:29036293, PMID:29141312, PMID:29335925, PMID:29360161, PMID:29368341, PMID:29371908, PMID:29415044, PMID:29470806, PMID:29478780, PMID:29522266, PMID:29555771, PMID:29566657, PMID:29596542, PMID:29600275, PMID:29664460, PMID:29667044, PMID:29678143, PMID:29684080, PMID:29719442, PMID:29752822, PMID:29753700, PMID:29888287, PMID:29909963, PMID:29922827, PMID:29945567, PMID:29946849, PMID:29954938, PMID:30067863, PMID:30086788, PMID:30128536, PMID:30197789, PMID:30214756, PMID:30256826, PMID:30287823, PMID:30303537, PMID:30311386, PMID:30363071, PMID:30374176, PMID:30426508, PMID:30447919, PMID:30504431, PMID:30549301, PMID:30607632, PMID:30620386, PMID:30723761, PMID:30730459, PMID:30814645, PMID:30819809, PMID:30927251, PMID:31054420, PMID:31118792, PMID:31125277, PMID:31139954, PMID:31159747, PMID:31160347, PMID:31843900, PMID:31919090, PMID:32183364, PMID:32566746 NCBI chr 8:57,983,168...58,012,474
Ensembl chr 8:57,983,556...58,011,962
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:8445618, PMID:8684395, PMID:9845372, PMID:10612394, PMID:11196167, PMID:11238951, PMID:11371508, PMID:12966088, PMID:14684699, PMID:14690604, PMID:15269180, PMID:16858402, PMID:19383352, PMID:20052722, PMID:20805886, PMID:21227757, PMID:22006311, PMID:22078559, PMID:22139912, PMID:22705791, PMID:22863007, PMID:23080121, PMID:23436002, PMID:23718828, PMID:23755103, PMID:23912341, PMID:24030952, PMID:24033266, PMID:24093751, PMID:24549055, PMID:24556621, PMID:24763289, PMID:24894818, PMID:25040471, PMID:25326635, PMID:25452441, PMID:25503501, PMID:25741868, PMID:26057807, PMID:26467025, PMID:26483394, PMID:26534844, PMID:26633542, PMID:26680607, PMID:26757417, PMID:26786923, PMID:26787654, PMID:26845104, PMID:26898890, PMID:27153395, PMID:27329137, PMID:27433846, PMID:27621404, PMID:27783279, PMID:27878467, PMID:28051113, PMID:28125075, PMID:28152038, PMID:28202063, PMID:28486781, PMID:28492532, PMID:28524162, PMID:28559769, PMID:28849312, PMID:28873162, PMID:29170652, PMID:29348823, PMID:29371908, PMID:29752822, PMID:29922827, PMID:30441849, PMID:32566746 NCBI chr 8:13,304,355...13,350,329
Ensembl chr 8:13,305,152...13,352,489
JBrowse link
G Pcna proliferating cell nuclear antigen ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:124,880,698...124,884,570
Ensembl chr 3:124,880,698...124,884,570
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: Adult onset ataxia with oculomotor apraxia
ClinVar Annotator: match by term: Early-onset cerebellar ataxia with hypoalbuminemia
DNA:mutations:multiple:
DNA:missense mutation:cds:p.V320G(human)
DNA:insertion, missense mutations: :80A>G, 95C>T, 166_167insT (human)
ClinVar Annotator: match by OMIM:208920
OMIM
ClinVar
PMID:11176957, PMID:11294920, PMID:11586299, PMID:11586300, PMID:12196655, PMID:12629250, PMID:14506070, PMID:15164193, PMID:15365154, PMID:15596775, PMID:15699391, PMID:15790557, PMID:15852392, PMID:15996403, PMID:16400613, PMID:16700949, PMID:17242337, PMID:21465257, PMID:23659632, PMID:24033266, PMID:25637650, PMID:25741868, PMID:26285866, PMID:26467025, PMID:28492532, PMID:28652255, PMID:28881617, PMID:29356829, PMID:29482223, PMID:32214227, PMID:21465257, PMID:17572444, PMID:12196655 RGD:10054301, RGD:10054300, RGD:1599207 NCBI chr 5:56,987,714...57,009,481
Ensembl chr 5:56,987,909...57,008,859
JBrowse link
G Pnkp polynucleotide kinase 3'-phosphatase ISO ClinVar Annotator: match by term: Adult onset ataxia with oculomotor apraxia ClinVar PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 1:100,853,475...100,859,202
Ensembl chr 1:100,853,902...100,859,084
JBrowse link
ataxia with oculomotor apraxia type 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: Ataxia with Oculomotor Apraxia ClinVar PMID:24033266, PMID:26467025, PMID:28492532 NCBI chr 5:56,987,714...57,009,481
Ensembl chr 5:56,987,909...57,008,859
JBrowse link
G Setx senataxin ISO 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: Spinocerebellar ataxia autosomal recessive 1
ClinVar Annotator: match by term: Ataxia-ocular apraxia-2
ClinVar Annotator: match by OMIM:606002
OMIM
ClinVar
PMID:14770181, PMID:15106121, PMID:15732101, PMID:17159128, PMID:18058631, PMID:18414213, PMID:18625865, PMID:19569000, PMID:19696032, PMID:20540686, PMID:20981092, PMID:21190393, PMID:22088787, PMID:23129421, PMID:23757202, PMID:23806086, PMID:23881933, PMID:23941260, PMID:24033266, PMID:24088041, PMID:25025039, PMID:25174650, PMID:25299611, PMID:25326635, PMID:25382069, PMID:25741868, PMID:25802885, PMID:26257172, PMID:26467025, PMID:26601740, PMID:26633545, PMID:27013921, PMID:27790088, PMID:28130640, PMID:28492532, PMID:28642336, PMID:28832565, PMID:29650794, PMID:30311386 NCBI chr 3:7,680,430...7,731,815
Ensembl chr 3:7,686,503...7,730,539
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 OMIM:615217 OMIM
ClinVar
PMID:22065524 NCBI chr10:55,013,686...55,078,986
Ensembl chr10:55,013,703...55,080,421
JBrowse link
Ataxia-Oculomotor Apraxia 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 4 OMIM
ClinVar
PMID:7165045, PMID:10446192, PMID:18414213, PMID:20118933, PMID:22508754, PMID:23224214, PMID:24965255, PMID:25558065, PMID:25728773, PMID:25741868, PMID:26467025, PMID:27066567, PMID:27165045, PMID:27232581, PMID:28492532, PMID:30039206, PMID:31061747 NCBI chr 1:100,853,475...100,859,202
Ensembl chr 1:100,853,902...100,859,084
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 PMID:8755918, PMID:8808599, PMID:9000145, PMID:9288106, PMID:9463314, PMID:9792410, PMID:9887333, PMID:10234507, PMID:10330348, PMID:11382771, PMID:11826028, PMID:11830610, PMID:14654357, PMID:15054841, PMID:15174027, PMID:16958054, PMID:17001622, PMID:18575927, PMID:18634022, PMID:19431188, PMID:19535770, PMID:19781682, PMID:19823873, PMID:21787400, PMID:21792198, PMID:22345219, PMID:22529920, PMID:23143971, PMID:24088041, PMID:24733792, PMID:25037873, PMID:25040471, PMID:25077176, PMID:25186627, PMID:25525159, PMID:25741868, PMID:25914063, PMID:25980754, PMID:26506520, PMID:26633545, PMID:26681312, PMID:27528516, PMID:27595995, PMID:27798748, PMID:27978560, PMID:27988859, PMID:28008555, PMID:28492532, PMID:28779002, PMID:29719442, PMID:30504431, PMID:30549301, PMID:30819809 NCBI chr 8:58,015,938...58,119,973
Ensembl chr 8:58,015,940...58,120,045
JBrowse link
G RGD1311251 similar to RIKEN cDNA 4930550C14 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia variant ClinVar PMID:8755918, PMID:8808599, PMID:9000145, PMID:9288106, PMID:9463314, PMID:9792410, PMID:9887333, PMID:10234507, PMID:10330348, PMID:11382771, PMID:11826028, PMID:11830610, PMID:14654357, PMID:15174027, PMID:16958054, PMID:17001622, PMID:18575927, PMID:18634022, PMID:19431188, PMID:19781682, PMID:19823873, PMID:21787400, PMID:21792198, PMID:22345219, PMID:22529920, PMID:23143971, PMID:24088041, PMID:24733792, PMID:25037873, PMID:25040471, PMID:25077176, PMID:25186627, PMID:25741868, PMID:25914063, PMID:25980754, PMID:26506520, PMID:26633545, PMID:26681312, PMID:27528516, PMID:27595995, PMID:27798748, PMID:27978560, PMID:27988859, PMID:28008555, PMID:28492532, PMID:28779002, PMID:29719442, PMID:30504431, PMID:30549301 NCBI chr 8:57,983,168...58,012,474
Ensembl chr 8:57,983,556...58,011,962
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 OMIM:604391
OMIM
ClinVar
PMID:8445618, PMID:8684395, PMID:9845372, PMID:10612394, PMID:11196167, PMID:11238951, PMID:11371508, PMID:12966088, PMID:14684699, PMID:14690604, PMID:15269180, PMID:15574463, PMID:16858402, PMID:18652530, PMID:18854157, PMID:19383352, PMID:20052722, PMID:20805886, PMID:21227757, PMID:21252998, PMID:21324166, PMID:22006311, PMID:22078559, PMID:22139912, PMID:22705791, PMID:22863007, PMID:23080121, PMID:23436002, PMID:23718828, PMID:23912341, PMID:24030952, PMID:24033266, PMID:24332946, PMID:24549055, PMID:24733832, PMID:24763289, PMID:24894818, PMID:25040471, PMID:25326635, PMID:25452441, PMID:25503501, PMID:25741868, PMID:26467025, PMID:26483394, PMID:26534844, PMID:26633542, PMID:26680607, PMID:26786923, PMID:26787654, PMID:26845104, PMID:26898890, PMID:27124789, PMID:27153395, PMID:27329137, PMID:27621404, PMID:27783279, PMID:27878467, PMID:28051113, PMID:28125075, PMID:28152038, PMID:28202063, PMID:28486781, PMID:28492532, PMID:28559769, PMID:28849312, PMID:29170652, PMID:29348823, PMID:29752822, PMID:29922827, PMID:30441849, PMID:32566746 NCBI chr 8:13,304,355...13,350,329
Ensembl chr 8:13,305,152...13,352,489
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 OMIM
ClinVar
PMID:24911150 NCBI chr 3:124,880,698...124,884,570
Ensembl chr 3:124,880,698...124,884,570
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: Adult proximal spinal muscular atrophy, autosomal dominant ClinVar PMID:25741868, PMID:28492532 NCBI chr 5:165,994,803...166,133,497
Ensembl chr 5:165,938,576...166,133,491
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: Spinal muscular atrophy, late-onset, finkel type
OMIM
ClinVar
PMID:15372378, PMID:16187141, PMID:16967488, PMID:17804640, PMID:18322265, PMID:18677189, PMID:19183264, PMID:20008544, PMID:20377183, PMID:20447143, PMID:20577002, PMID:21275991, PMID:21685205, PMID:21933185, PMID:22131369, PMID:22258555, PMID:22454507, PMID:22878164, PMID:23333387, PMID:23446633, PMID:23771029, PMID:23971766, PMID:24212516, PMID:24681403, PMID:25741868, PMID:26467025, PMID:26566915, PMID:27978769, PMID:28492532 NCBI chr 3:171,832,558...171,871,042
Ensembl chr 3:171,832,500...171,868,647
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 ClinVar Annotator: match by term: Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant
ClinVar Annotator: match by OMIM:604121
OMIM
ClinVar
PMID:8747854, PMID:22328086, PMID:25741868 NCBI chr 8:21,922,515...21,968,495
Ensembl chr 8:21,922,515...21,968,495
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: Autosomal dominant distal hereditary motor neuropathy ClinVar PMID:8114789, PMID:22628388, PMID:23664116, PMID:23664119, PMID:23664120, PMID:24336790, PMID:25497877, PMID:25741868, PMID:26467025, PMID:27549087, PMID:27784775, PMID:28251916, PMID:28492532, PMID:28832565, PMID:32581362 NCBI chr17:15,673,649...15,718,035
Ensembl chr17:15,673,650...15,718,035
JBrowse link
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Autosomal dominant distal hereditary motor neuropathy ClinVar PMID:12730604, PMID:20697106, PMID:21102439, PMID:22459677, PMID:25326635, PMID:25609763, PMID:25741868 NCBI chr 6:134,958,854...135,085,769
Ensembl chr 6:134,958,854...135,085,769
JBrowse link
G Fig4 FIG4 phosphoinositide 5-phosphatase ISO ClinVar Annotator: match by term: Autosomal dominant distal hereditary motor neuropathy ClinVar NCBI chr20:45,922,806...46,044,754
Ensembl chr20:45,922,806...46,044,738
JBrowse link
G Gars glycyl-tRNA synthetase ISO ClinVar Annotator: match by term: Autosomal dominant distal hereditary motor neuropathy ClinVar PMID:17101916 NCBI chr 4:85,235,122...85,276,085
Ensembl chr 4:85,235,172...85,276,044
JBrowse link
G Ighmbp2 immunoglobulin mu DNA binding protein 2 ISO ClinVar Annotator: match by term: Autosomal dominant distal hereditary motor neuropathy ClinVar PMID:1461881, PMID:11528396, PMID:14506069, PMID:14681881, PMID:15108294, PMID:15797190, PMID:17431882, PMID:18802676, PMID:19157874, PMID:19158098, PMID:22157136, PMID:23449687, PMID:23566544, PMID:23929295, PMID:24022109, PMID:24033266, PMID:24342282, PMID:24388491, PMID:24922459, PMID:25439726, PMID:25454169, PMID:25568292, PMID:25741868, PMID:26298607, PMID:26467025, PMID:26709713, PMID:27450922, PMID:28492532, PMID:30311386 NCBI chr 1:218,509,274...218,531,922
Ensembl chr 1:218,508,950...218,532,142
JBrowse link
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Autosomal dominant distal hereditary motor neuropathy ClinVar PMID:25886484, PMID:28492532 NCBI chr 2:187,842,884...187,863,552
Ensembl chr 2:187,842,885...187,863,516
JBrowse link
G Morc2 MORC family CW-type zinc finger 2 ISO ClinVar Annotator: match by term: Autosomal dominant distal hereditary motor neuropathy ClinVar PMID:26659848, PMID:28492532 NCBI chr14:83,889,138...83,930,263
Ensembl chr14:83,889,089...83,930,522
JBrowse link
G Nefl neurofilament light ISO ClinVar Annotator: match by term: Autosomal dominant distal hereditary motor neuropathy ClinVar NCBI chr15:44,799,378...44,803,251
Ensembl chr15:44,799,334...44,804,574
JBrowse link
G Setx senataxin ISO ClinVar Annotator: match by term: Autosomal dominant distal hereditary motor neuropathy ClinVar PMID:19696032, PMID:22088787, PMID:26467025, PMID:28492532 NCBI chr 3:7,680,430...7,731,815
Ensembl chr 3:7,686,503...7,730,539
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 PMID:1520078, PMID:8179305, PMID:10463355, PMID:15668982, PMID:20037586, PMID:20037587, PMID:20037588, PMID:20104247, PMID:20460441, PMID:21115951, PMID:21288981, PMID:21454511, PMID:22065612, PMID:22291064, PMID:22526352, PMID:22702953, PMID:24319099, PMID:24789864, PMID:25741868, PMID:26048687, PMID:26467025, PMID:26948711, PMID:28492532 NCBI chr12:47,698,915...47,737,902
Ensembl chr12:47,698,947...47,737,902
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, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr 8:130,812,941...130,931,021
Ensembl chr 8:130,813,214...130,930,990
JBrowse link
G Coq8a coenzyme Q8A ISO ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia ClinVar PMID:18414213, PMID:22036850, PMID:24164873, PMID:25741868, PMID:26467025, PMID:26640698, PMID:28492532 NCBI chr13:98,451,629...98,480,438
Ensembl chr13:98,451,637...98,480,419
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 1:219,964,429...220,006,811
Ensembl chr 1:219,964,429...220,005,068
JBrowse link
G Syne1 spectrin repeat containing nuclear envelope protein 1 ISO ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia ClinVar PMID:17159980, PMID:24033266, PMID:25843669, PMID:26467025, PMID:27782104 NCBI chr 1:41,608,287...41,763,591
NCBI chr 1:41,844,840...42,086,662
Ensembl chr 1:41,608,418...42,077,535
JBrowse link
G Tdp1 tyrosyl-DNA phosphodiesterase 1 ISO ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia ClinVar NCBI chr 6:123,895,860...123,963,688
Ensembl chr 6:123,897,956...123,963,675
JBrowse link
G Twnk twinkle mtDNA helicase ISO ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia ClinVar PMID:17614277, PMID:20479361, PMID:20659899, PMID:21689831, PMID:24018892, PMID:25355836, PMID:25741868, PMID:26206283, PMID:26467025, PMID:27551684, PMID:28492532, PMID:29458409 NCBI chr 1:264,756,060...264,762,892
Ensembl chr 1:264,756,499...264,762,892
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: Spinocerebellar ataxia, autosomal recessive 10
ClinVar Annotator: match by OMIM:613728
OMIM
ClinVar
PMID:21092923, PMID:24033266, PMID:25089919, PMID:25133958, PMID:25182700, PMID:25425649, PMID:25664549, PMID:25730773, PMID:25741868, PMID:26467025, PMID:27091155, PMID:27142713, PMID:27270446, PMID:28492532 NCBI chr 8:130,812,941...130,931,021
Ensembl chr 8:130,813,214...130,930,990
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: Spinocerebellar ataxia, autosomal recessive 11
ClinVar Annotator: match by OMIM:614229
OMIM
ClinVar
PMID:21835308 NCBI chr13:111,630,005...111,766,334
Ensembl chr13:111,635,639...111,765,944
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: SPINOCEREBELLAR ATAXIA WITH MENTAL RETARDATION AND EPILEPSY
ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 12
ClinVar PMID:24369382, PMID:28492532, PMID:32214227 NCBI chr19:48,179,826...48,200,995
Ensembl chr19:48,194,804...48,196,748
JBrowse link
G Wwox WW domain-containing oxidoreductase ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 12
ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA WITH MENTAL RETARDATION AND EPILEPSY
ClinVar Annotator: match by OMIM:614322
ClinVar Annotator: match by This custom term has been created by RGD curators.
OMIM
ClinVar
PMID:17470496, PMID:24369382, PMID:25411445, PMID:25741868, PMID:28492532, PMID:29358611, PMID:32214227 NCBI chr19:46,761,353...47,695,247 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 ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 13 OMIM
ClinVar
PMID:25741868, PMID:26467025 NCBI chr 1:4,753,141...5,165,859
Ensembl chr 1:4,753,144...5,165,859
JBrowse link
autosomal recessive spinocerebellar ataxia 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sptbn2 spectrin, beta, non-erythrocytic 2 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 14
ClinVar Annotator: match by OMIM:615386
OMIM
ClinVar
PMID:17940722, PMID:23236289, PMID:23838597, PMID:25741868, PMID:26467025, PMID:28492532, PMID:29590070 NCBI chr 1:219,964,429...220,006,811
Ensembl chr 1:219,964,429...220,005,068
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 OMIM:615705
ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 15
ClinVar
OMIM
PMID:20826435, PMID:23728897, PMID:25741868, PMID:28492532 NCBI chr11:71,150,506...71,199,254
Ensembl chr11:71,151,132...71,197,035
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: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16
ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 16
ClinVar PMID:24113144, PMID:24742043, PMID:25741868 NCBI chr10:15,195,954...15,198,870
Ensembl chr10:15,195,969...15,198,868
JBrowse link
G Stub1 STIP1 homology and U-box containing protein 1 ISO ClinVar Annotator: match by OMIM:615768
ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 16
ClinVar
OMIM
PMID:24113144, PMID:24312598, PMID:24742043, PMID:25258038, PMID:25741868 NCBI chr10:15,197,754...15,200,035
Ensembl chr10:15,197,803...15,200,117
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: Spinocerebellar ataxia, autosomal recessive 17
ClinVar Annotator: match by OMIM:616127
OMIM
ClinVar
PMID:15981765, PMID:18414213, PMID:25361784, PMID:25741868, PMID:26197978, PMID:27016154 NCBI chr 1:263,887,014...263,910,251
Ensembl chr 1:263,887,015...263,910,251
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 ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 18 OMIM
ClinVar
PMID:23611888, PMID:24078737, PMID:25741868 NCBI chr 4:94,068,112...95,476,864
Ensembl chr 4:94,696,965...95,442,778
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 OMIM
ClinVar
PMID:25205112, PMID:25741868 NCBI chr 5:151,573,122...151,626,360
Ensembl chr 5:151,573,092...151,627,316
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: Spinocerebellar ataxia, autosomal recessive 2 ClinVar
OMIM
PMID:10528257, PMID:25808372, PMID:26657514 NCBI chr 3:3,834,262...3,842,061
Ensembl chr 3:3,834,078...3,842,078
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: Spinocerebellar ataxia, autosomal recessive 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: Spinocerebellar ataxia, autosomal recessive 20 OMIM
ClinVar
PMID:24501761, PMID:25439728, PMID:25741868, PMID:25848753, PMID:27913285 NCBI chr 8:96,018,943...96,088,405
Ensembl chr 8:96,023,445...96,088,405
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: Spinocerebellar ataxia, autosomal recessive 21
ClinVar Annotator: match by term: CALFAN syndrome
OMIM
ClinVar
PMID:25741868, PMID:29419818 NCBI chr 1:221,115,992...221,129,668
Ensembl chr 1:221,115,860...221,129,654
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
OMIM
PMID:26157035 NCBI chr 9:43,607,066...43,779,466
Ensembl chr 9:43,607,669...43,779,463
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
OMIM
PMID:24658003, PMID:30109272 NCBI chr17:42,229,667...42,241,025
Ensembl chr17:42,229,642...42,241,066
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 ClinVar
OMIM
PMID:26872069 NCBI chr 8:112,578,607...112,594,192
Ensembl chr 8:112,578,590...112,594,261
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: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 25 ClinVar
OMIM
PMID:15981765, PMID:26812546 NCBI chr20:49,301,783...49,393,147
Ensembl chr20:49,318,308...49,393,140
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
OMIM
PMID:28002403 NCBI chr 1:81,412,635...81,441,680
Ensembl chr 1:81,413,353...81,441,678
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: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 27 OMIM
ClinVar
PMID:30084953 NCBI chr 2:202,470,485...202,526,849
Ensembl chr 2:202,470,487...202,526,849
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:1168944, PMID:27307223 NCBI chr10:31,043,647...31,052,092
Ensembl chr10:31,043,688...31,052,102
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: Spinocerebellar ataxia autosomal recessive 4
ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome
ClinVar
OMIM
PMID:11960835, PMID:25741868, PMID:28492532, PMID:29518281, PMID:29604224 NCBI chr 5:162,891,451...163,119,239
Ensembl chr 5:162,891,451...163,119,239
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: Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia
ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 7
OMIM
ClinVar
PMID:9295267, PMID:9788728, PMID:10330339, PMID:11339651, PMID:12376936, PMID:15317752, PMID:15520412, PMID:18684116, PMID:20340139, PMID:22612257, PMID:23418007, PMID:23539563, PMID:25356970, PMID:25741868, PMID:26224725, PMID:28335910, PMID:28492532, PMID:30311386 NCBI chr 1:170,588,036...170,594,159
Ensembl chr 1:170,588,035...170,594,168
JBrowse link
autosomal recessive spinocerebellar ataxia 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cbs cystathionine beta synthase ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 8 ClinVar PMID:25326637, PMID:28492532 NCBI chr20:10,361,987...10,386,663
Ensembl chr20:10,361,988...10,386,751
JBrowse link
G Esr1 estrogen receptor 1 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 8 ClinVar PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr 1:41,192,029...41,594,799
Ensembl chr 1:41,192,824...41,594,796
JBrowse link
G Fbxo5 F-box protein 5 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 8 ClinVar PMID:28492532 NCBI chr 1:42,461,277...42,467,646
Ensembl chr 1:42,461,291...42,467,586
JBrowse link
G Mtrf1l mitochondrial translational release factor 1-like ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 8 ClinVar PMID:28492532 NCBI chr 1:42,475,791...42,485,999
Ensembl chr 1:42,475,792...42,486,035
JBrowse link
G Myct1 myc target 1 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 8 ClinVar PMID:28492532 NCBI chr 1:42,121,572...42,132,131
Ensembl chr 1:42,121,636...42,131,547
JBrowse link
G Rgs17 regulator of G-protein signaling 17 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 8 ClinVar PMID:28492532 NCBI chr 1:42,491,566...42,587,735
Ensembl chr 1:42,492,761...42,587,721
JBrowse link
G Syne1 spectrin repeat containing nuclear envelope protein 1 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 8
DNA:mutations:multiple:
ClinVar Annotator: match by OMIM:610743
OMIM
ClinVar
PMID:17159980, PMID:17503513, PMID:17761684, PMID:18414213, PMID:21572417, PMID:22287014, PMID:23325900, PMID:23352163, PMID:23959263, PMID:24033266, PMID:24123366, PMID:24123876, PMID:24892279, PMID:25133958, PMID:25214167, PMID:25401298, PMID:25741868, PMID:25843669, PMID:25976027, PMID:26467025, PMID:26539891, PMID:26770814, PMID:26870756, PMID:27066551, PMID:27086870, PMID:27197992, PMID:27305979, PMID:27782104, PMID:28017257, PMID:28074886, PMID:28178086, PMID:28492532, PMID:28687974, PMID:28750076, PMID:28798025, PMID:29482223, PMID:29625556, PMID:29961767, PMID:30029642, PMID:30275942, PMID:30311386, PMID:30564623, PMID:30573412, PMID:27086870 RGD:13209001 NCBI chr 1:41,608,287...41,763,591
NCBI chr 1:41,844,840...42,086,662
Ensembl chr 1:41,608,418...42,077,535
JBrowse link
G Vip vasoactive intestinal peptide ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 8 ClinVar PMID:28492532 NCBI chr 1:42,169,307...42,177,582
Ensembl chr 1:42,169,501...42,177,582
JBrowse link
Autosomal Recessive Spinocerebellar Ataxia with Axonal Neuropathy 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: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 3 OMIM
ClinVar
PMID:27683825, PMID:29718187, PMID:30885959 NCBI chr 5:127,925,726...127,936,516
Ensembl chr 5:127,925,726...127,936,509
JBrowse link
Boucher-Neuhauser 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: Ataxia-hypogonadism-choroidal dystrophy syndrome
ClinVar Annotator: match by term: Boucher Neuhauser syndrome
ClinVar Annotator: match by OMIM:215470
OMIM
ClinVar
PMID:9321767, PMID:24355708, PMID:25033069, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr12:2,068,749...2,098,139
Ensembl chr12:2,069,959...2,097,904
JBrowse link
Camptocormia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myh7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: Bent Spine Syndrome ClinVar PMID:12707239, PMID:23861362, PMID:24033266, PMID:24793961, PMID:25467552, PMID:25741868, PMID:25961035, PMID:26627873, PMID:26969127, PMID:27247418, PMID:27532257, PMID:28492532, PMID:29300372 NCBI chr15:33,605,769...33,657,761
Ensembl chr15:33,634,422...33,656,089
JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: Camptocormism ClinVar PMID:16621917, PMID:17452231, PMID:18546365, PMID:19189930, PMID:19578034, PMID:19752458, PMID:19815814, PMID:20227526, PMID:20803511, PMID:21856450, PMID:21880868, PMID:22647225, PMID:22727047, PMID:23808377, PMID:24033266, PMID:25741868, PMID:26467025, PMID:27271921, PMID:28130605, PMID:28492532 NCBI chr 1:141,172,117...141,188,893
Ensembl chr 1:141,172,531...141,188,031
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 NCBI chr 7:76,750,045...76,780,817
Ensembl chr 7:76,750,050...76,780,817
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)
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
ClinVar
OMIM
PMID:2842249, PMID:8496742, PMID:8733056, PMID:11020638, PMID:15260953, PMID:16632466, PMID:19652145, PMID:20576601, PMID:22534615, PMID:22842232, PMID:22850527, PMID:22924536, PMID:22933743, PMID:23409136, PMID:23483595, PMID:24088041, PMID:24100174, PMID:24123283, PMID:24431296, PMID:24436111, PMID:24468074, PMID:24523486, PMID:24631656, PMID:24739246, PMID:24793181, PMID:24842602, PMID:24996492, PMID:25056583, PMID:25326637, PMID:25359261, PMID:25447930, PMID:25523819, PMID:25656163, PMID:25681536, PMID:25741868, PMID:25895915, PMID:25996915, PMID:26297560, PMID:26400718, PMID:26410222, PMID:26453127, PMID:26633545, PMID:26993267, PMID:27091223, PMID:27268479, PMID:27634470, PMID:27726050, PMID:28293679, PMID:28441826, PMID:28492532, PMID:28500446, PMID:28708303, PMID:28849312, PMID:29066118, PMID:29184165, PMID:29305691, PMID:29397530, PMID:30071271, PMID:30311386, PMID:30657467, PMID:32581362, PMID:24468074 RGD:11576280 NCBI chr 1:81,852,423...81,881,565
Ensembl chr 1:81,852,429...81,881,549
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 ClinVar Annotator: match by term: Cerebellar ataxia, cayman type
ClinVar Annotator: match by term: Cerebellar ataxia, Cayman type
ClinVar Annotator: match by OMIM:601238
OMIM
ClinVar
PMID:14556008, PMID:28492532 NCBI chr 7:11,356,017...11,379,782
Ensembl chr 7:11,356,118...11,380,913
JBrowse link
cerebellar ataxia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcd1 ATP binding cassette subfamily D member 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:7581394, PMID:7668254, PMID:9425230, PMID:19129531, PMID:22280810, PMID:23566833, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr  X:157,073,860...157,095,652
Ensembl chr  X:157,072,736...157,095,274
JBrowse link
G Adamtsl2 ADAMTS-like 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 3:5,624,473...5,654,890
Ensembl chr 3:5,624,506...5,654,910
JBrowse link
G Aga aspartylglucosaminidase ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr16:41,222,225...41,234,169
Ensembl chr16:41,222,238...41,234,095
JBrowse link
G Aifm1 apoptosis inducing factor, mitochondria associated 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr  X:135,304,063...135,343,062
Ensembl chr  X:135,304,066...135,343,087
JBrowse link
G Ano5 anoctamin 5 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:9673985, PMID:20096397, PMID:21186264, PMID:21739273, PMID:21820307, PMID:22194990, PMID:22336395, PMID:22402862, PMID:22499103, PMID:22742934, PMID:22980763, PMID:23041008, PMID:23606453, PMID:23607914, PMID:24022920, PMID:24232312, PMID:24843231, PMID:25741868, PMID:25891276, PMID:26467025, PMID:27708273, PMID:28492532, PMID:30311386 NCBI chr 1:106,873,580...106,971,769
Ensembl chr 1:106,896,790...106,968,885
JBrowse link
G Apob apolipoprotein B ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:23680767, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 6:33,176,826...33,216,381
Ensembl chr 6:33,176,778...33,224,997
JBrowse link
G Atcay ATCAY kinesin light chain interacting caytaxin susceptibility ISO RGD PMID:14556008 RGD:1599348 NCBI chr 7:11,356,017...11,379,782
Ensembl chr 7:11,356,118...11,380,913
JBrowse link
G Atm ATM serine/threonine kinase ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:12810666, PMID:25741868, PMID:28492532 NCBI chr 8:58,015,938...58,119,973
Ensembl chr 8:58,015,940...58,120,045
JBrowse link
G Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868, PMID:30311386 NCBI chr 1:81,852,423...81,881,565
Ensembl chr 1:81,852,429...81,881,549
JBrowse link
G Atp7a ATPase copper transporting alpha ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr  X:77,076,085...77,193,644
Ensembl chr  X:77,076,106...77,193,644
JBrowse link
G Atp7b ATPase copper transporting beta ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:10544227, PMID:14962673, PMID:18483695, PMID:21454443, PMID:21682854, PMID:22484412, PMID:22494076, PMID:24253677, PMID:25741868, PMID:28392828, PMID:28492532, PMID:30311386 NCBI chr16:74,865,516...74,944,935
Ensembl chr16:74,865,516...74,945,286
JBrowse link
G Atxn1 ataxin 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr17:19,160,986...19,533,814
Ensembl chr17:19,249,952...19,533,814
JBrowse link
G Atxn10 ataxin 10 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 7:126,228,416...126,351,728
Ensembl chr 7:126,228,295...126,351,634
JBrowse link
G Atxn7 ataxin 7 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr15:12,421,432...12,569,649
Ensembl chr15:12,425,175...12,513,931
JBrowse link
G B3glct beta 3-glucosyltransferase ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:16909395, PMID:18199743, PMID:18798333, PMID:19796186, PMID:20301637, PMID:23161355, PMID:23213277, PMID:23889335, PMID:25741868, PMID:26684045, PMID:28492532, PMID:30311386 NCBI chr12:6,403,118...6,476,010
Ensembl chr12:6,403,940...6,473,321
JBrowse link
G Bbs12 Bardet-Biedl syndrome 12 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:17160889, PMID:23591405, PMID:25741868, PMID:28492532, PMID:30311386, PMID:30614526 NCBI chr 2:124,048,513...124,057,026
Ensembl chr 2:124,054,282...124,056,795
JBrowse link
G Btd biotinidase ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr16:7,758,192...7,791,301
Ensembl chr16:7,758,996...7,791,243
JBrowse link
G Ca8 carbonic anhydrase 8 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 5:21,249,018...21,345,810
Ensembl chr 5:21,249,020...21,345,810
JBrowse link
G Cacna1a calcium voltage-gated channel subunit alpha1 A ISO
ISS
ClinVar Annotator: match by term: Cerebellar ataxia ClinVar
MouseDO
PMID:15173248, PMID:25741868, PMID:26467025, PMID:27066515, PMID:27400454, PMID:28492532 NCBI chr19:25,453,236...25,749,550
Ensembl chr19:25,526,751...25,749,550
JBrowse link
G Cacna1g calcium voltage-gated channel subunit alpha1 G ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868, PMID:30311386 NCBI chr10:82,129,071...82,197,828
Ensembl chr10:82,129,506...82,197,848
JBrowse link
G Cacng2 calcium voltage-gated channel auxiliary subunit gamma 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 7:119,228,112...119,353,332
Ensembl chr 7:119,228,102...119,352,605
JBrowse link
G Cbs cystathionine beta synthase ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:1301198, PMID:2056790, PMID:6711564, PMID:7506602, PMID:7611293, PMID:7635485, PMID:7762555, PMID:8554066, PMID:8803779, PMID:8940271, PMID:9708897, PMID:9864922, PMID:10328723, PMID:10338090, PMID:10364517, PMID:10807759, PMID:11230183, PMID:11359213, PMID:11434706, PMID:12552044, PMID:14722927, PMID:15146473, PMID:16375773, PMID:17072863, PMID:17540596, PMID:18201569, PMID:18805305, PMID:19819175, PMID:20506325, PMID:20567906, PMID:22069143, PMID:22267502, PMID:23592311, PMID:24033266, PMID:25516723, PMID:25741868, PMID:26750749, PMID:28492532, PMID:28583326, PMID:30311386 NCBI chr20:10,361,987...10,386,663
Ensembl chr20:10,361,988...10,386,751
JBrowse link
G Ccdc88c coiled-coil domain containing 88C ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 6:124,905,811...125,028,011
Ensembl chr 6:124,905,808...125,027,553
JBrowse link
G Cdk5rap2 CDK5 regulatory subunit associated protein 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 5:86,387,238...86,554,108
Ensembl chr 5:86,387,078...86,554,102
JBrowse link
G Cep104 centrosomal protein 104 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:32581362 NCBI chr 5:171,262,278...171,294,560
Ensembl chr 5:171,262,278...171,294,559
JBrowse link
G Chkb choline kinase beta ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 7:130,404,818...130,408,813
Ensembl chr 7:130,404,832...130,408,187
JBrowse link
G Ciz1 CDKN1A interacting zinc finger protein 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr 3:11,392,046...11,409,218
Ensembl chr 3:11,392,791...11,410,180
JBrowse link
G Clcn2 chloride voltage-gated channel 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr11:82,862,664...82,876,165
Ensembl chr11:83,883,879...83,897,394
JBrowse link
G Cnnm2 cyclin and CBS domain divalent metal cation transport mediator 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 1:266,530,421...266,651,292
Ensembl chr 1:266,530,477...266,649,398
JBrowse link
G Cog5 component of oligomeric golgi complex 5 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 6:50,953,868...51,230,860
Ensembl chr 6:50,954,631...51,230,701
JBrowse link
G Cog7 component of oligomeric golgi complex 7 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 1:191,889,332...191,948,977
Ensembl chr 1:191,857,556...191,948,977
JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868, PMID:30311386 NCBI chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789
JBrowse link
G Coq8a coenzyme Q8A ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25558065 NCBI chr13:98,451,629...98,480,438
Ensembl chr13:98,451,637...98,480,419
JBrowse link
G Dars2 aspartyl-tRNA synthetase 2 (mitochondrial) ISO ClinVar Annotator: match by term: Dysmetria ClinVar PMID:17384640, PMID:19592391, PMID:22843165, PMID:23065766, PMID:23652419, PMID:24005482, PMID:24407472, PMID:25741868, PMID:30311386 NCBI chr13:78,857,638...78,885,464
Ensembl chr13:78,857,638...78,885,464
JBrowse link
G Dctn1 dynactin subunit 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 4:114,876,770...114,896,567
Ensembl chr 4:114,876,770...114,896,573
JBrowse link
G Dnm1 dynamin 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr 3:11,338,081...11,382,043
Ensembl chr 3:11,338,083...11,382,043
JBrowse link
G Dnmt1 DNA methyltransferase 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868, PMID:30311386 NCBI chr 8:21,922,515...21,968,495
Ensembl chr 8:21,922,515...21,968,495
JBrowse link
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 6:134,958,854...135,085,769
Ensembl chr 6:134,958,854...135,085,769
JBrowse link
G Esr1 estrogen receptor 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar NCBI chr 1:41,192,029...41,594,799
Ensembl chr 1:41,192,824...41,594,796
JBrowse link
G Fars2 phenylalanyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr17:29,006,981...29,438,906
Ensembl chr17:29,006,988...29,438,668
JBrowse link
G Fig4 FIG4 phosphoinositide 5-phosphatase ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:21705420, PMID:23623387, PMID:24033266, PMID:26467025, PMID:28492532, PMID:30311386 NCBI chr20:45,922,806...46,044,754
Ensembl chr20:45,922,806...46,044,738
JBrowse link
G Fmr1 FMRP translational regulator 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr  X:154,684,924...154,722,369
Ensembl chr  X:154,684,935...154,722,314
JBrowse link
G Galc galactosylceramidase ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:11151421, PMID:28492532, PMID:30311386 NCBI chr 6:122,177,195...122,239,411
Ensembl chr 6:122,178,602...122,239,614
JBrowse link
G Gclc glutamate-cysteine ligase, catalytic subunit ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 8:85,059,051...85,097,471
Ensembl chr 8:85,059,051...85,097,468
JBrowse link
G Gcsh glycine cleavage system protein H ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:28492532, PMID:30311386 NCBI chr19:49,522,054...49,532,811
Ensembl chr19:49,522,054...49,532,811
JBrowse link
G Gjb1 gap junction protein, beta 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868, PMID:28492532 NCBI chr  X:71,272,030...71,279,973
Ensembl chr  X:71,272,042...71,279,977
JBrowse link
G Grin2b glutamate ionotropic receptor NMDA type subunit 2B ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 4:169,541,620...170,000,216
Ensembl chr 4:169,560,387...169,999,873
JBrowse link
G Grm1 glutamate metabotropic receptor 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar NCBI chr 1:4,753,141...5,165,859
Ensembl chr 1:4,753,144...5,165,859
JBrowse link
G Hars1 histidyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868, PMID:28492532 NCBI chr18:29,611,545...29,629,087
Ensembl chr18:29,611,547...29,629,087
JBrowse link
G Hexa hexosaminidase subunit alpha ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:3837850, PMID:8445615, PMID:11161796, PMID:16088929, PMID:25326635, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 8:64,325,435...64,350,775
Ensembl chr 8:64,325,435...64,350,773
JBrowse link
G Hspd1 heat shock protein family D (Hsp60) member 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:28492532, PMID:30311386 NCBI chr 9:61,680,529...61,691,202
Ensembl chr 9:61,680,530...61,690,956
JBrowse link
G Inca1 inhibitor of CDK, cyclin A1 interacting protein 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868, PMID:32581362 NCBI chr10:57,309,722...57,322,140
Ensembl chr10:57,309,972...57,317,985
JBrowse link
G Inf2 inverted formin 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 6:137,162,593...137,180,198
Ensembl chr 6:137,164,535...137,177,622
JBrowse link
G Itch itchy E3 ubiquitin protein ligase ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 3:150,660,665...150,752,016
Ensembl chr 3:150,686,638...150,749,827
JBrowse link
G Itpr1 inositol 1,4,5-trisphosphate receptor, type 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 4:140,247,297...140,580,749
Ensembl chr 4:140,247,313...140,580,748
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 chr13:90,722,945...90,753,338
Ensembl chr13:90,723,092...90,752,581
JBrowse link
G Kcnn2 potassium calcium-activated channel subfamily N member 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr18:39,331,894...39,479,574
Ensembl chr18:39,335,377...39,479,257
JBrowse link
G Kcnq2 potassium voltage-gated channel subfamily Q member 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 3:176,585,897...176,645,029
Ensembl chr 3:176,589,906...176,644,951
JBrowse link
G Kif1c kinesin family member 1C ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868, PMID:32581362 NCBI chr10:57,322,259...57,352,395
Ensembl chr10:57,322,331...57,351,353
JBrowse link
G Kif7 kinesin family member 7 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr 1:141,434,183...141,452,592
Ensembl chr 1:141,434,625...141,451,075
JBrowse link
G L2hgdh L-2-hydroxyglutarate dehydrogenase ISO DNA:mutation:cds:c.241A4G(p.K81E)(human) RGD PMID:24573090 RGD:13506824 NCBI chr 6:92,016,560...92,057,643
Ensembl chr 6:92,016,622...92,057,816
JBrowse link
G Larp7 La ribonucleoprotein 7, transcriptional regulator ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 2:231,866,888...231,882,002
Ensembl chr 2:231,867,135...231,881,939
JBrowse link
G Mecp2 methyl CpG binding protein 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:1191367, PMID:8177735, PMID:10508514, PMID:10577905, PMID:10745042, PMID:10767337, PMID:10814718, PMID:10852707, PMID:10991688, PMID:11035019, PMID:11055878, PMID:11055898, PMID:11058114, PMID:11227330, PMID:11241840, PMID:11245712, PMID:11269512, PMID:11309679, PMID:11313756, PMID:11376998, PMID:11402105, PMID:11462237, PMID:11469283, PMID:11738866, PMID:11738879, PMID:11738885, PMID:11746022, PMID:11913567, PMID:11960578, PMID:12111643, PMID:12180070, PMID:12567420, PMID:12615169, PMID:12673788, PMID:12707946, PMID:12746406, PMID:12843318, PMID:12966523, PMID:14560307, PMID:15057977, PMID:15173251, PMID:15526954, PMID:15558314, PMID:15737703, PMID:16122633, PMID:16169931, PMID:16473305, PMID:16832102, PMID:17089071, PMID:17236109, PMID:17267601, PMID:17341617, PMID:17351020, PMID:17387578, PMID:17986102, PMID:18332345, PMID:18337588, PMID:18414213, PMID:18562141, PMID:19652677, PMID:19722030, PMID:20031356, PMID:20301670, PMID:21154482, PMID:21160487, PMID:21831886, PMID:21954873, PMID:21982064, PMID:22277191, PMID:22368975, PMID:23260135, PMID:23262346, PMID:23421866, PMID:23810759, PMID:24399845, PMID:24458799, PMID:25741868, PMID:26175308, PMID:26418480, PMID:26467025, PMID:26647311, PMID:27354166, PMID:27929079, PMID:28492532, PMID:30311386 NCBI chr  X:156,650,389...156,713,813
Ensembl chr  X:156,655,960...156,705,233
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, PMID:18316077, PMID:19812251, PMID:20008656, PMID:21508331, PMID:24957169, PMID:25741868, PMID:26467025, PMID:26801520, PMID:27100445, PMID:28492532, PMID:30311386 NCBI chr 5:164,684,244...164,715,414
Ensembl chr 5:164,684,509...164,714,145
JBrowse link
G Mlc1 modulator of VRAC current 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:16652334, PMID:23851226, PMID:25741868 NCBI chr 7:129,949,984...129,970,314
Ensembl chr 7:129,949,967...129,970,550
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, PMID:8095070, PMID:8250532, PMID:8395787, PMID:9199572, PMID:9329425, PMID:9556461, PMID:9883875, PMID:10590437, PMID:10660580, PMID:10676807, PMID:10889120, PMID:11076946, PMID:11371515, PMID:11730668, PMID:11751691, PMID:11843698, PMID:11925565, PMID:14998933, PMID:17452590, PMID:19667215, PMID:24088041, PMID:24986921, PMID:25741868, PMID:26633545, PMID:32313153, PMID:32581362 NCBI chr MT:7,919...8,599
Ensembl chr MT:7,919...8,599
JBrowse link
G Mt-co3 mitochondrially encoded cytochrome c oxidase III ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr MT:8,599...9,382
Ensembl chr MT:8,599...9,382
JBrowse link
G Myh14 myosin heavy chain 14 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 1:100,608,975...100,671,086
Ensembl chr 1:100,608,966...100,671,074
JBrowse link
G Ndufaf6 NADH:ubiquinone oxidoreductase complex assembly factor 6 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 5:24,297,169...24,320,804
Ensembl chr 5:24,297,094...24,320,786
JBrowse link
G Ndufs1 NADH:ubiquinone oxidoreductase core subunit S1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 9:69,919,863...69,953,182
Ensembl chr 9:69,919,867...69,953,182
JBrowse link
G Nefl neurofilament light ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:12477167, PMID:12566280, PMID:19158810, PMID:21840889, PMID:25448007, PMID:25552649, PMID:25741868, PMID:25741869, PMID:26645395, PMID:27206872, PMID:28492532, PMID:30311386 NCBI chr15:44,799,378...44,803,251
Ensembl chr15:44,799,334...44,804,574
JBrowse link
G Nek1 NIMA-related kinase 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr16:32,321,010...32,439,421
Ensembl chr16:32,321,010...32,439,421
JBrowse link
G Nkx2-1 NK2 homeobox 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 6:77,418,096...77,423,383
Ensembl chr 6:77,418,096...77,421,286
JBrowse link
G Nop56 NOP56 ribonucleoprotein ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr 3:122,803,726...122,808,564
Ensembl chr 3:122,803,772...122,808,558
JBrowse link
G Nubpl nucleotide binding protein-like ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 6:72,891,758...73,147,837
Ensembl chr 6:72,891,725...73,148,536
JBrowse link
G Opa1 OPA1, mitochondrial dynamin like GTPase ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr11:74,717,600...74,793,902
Ensembl chr11:74,720,254...74,793,803
JBrowse link
G Otc ornithine carbamoyltransferase ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868, PMID:30311386 NCBI chr  X:13,524,804...13,601,074
Ensembl chr  X:13,524,607...13,601,069
JBrowse link
G Pccb propionyl-CoA carboxylase subunit beta ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 8:109,368,887...109,418,871
Ensembl chr 8:109,368,624...109,418,872
JBrowse link
G Pde8b phosphodiesterase 8B ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 2:24,718,548...24,955,533
Ensembl chr 2:24,719,976...24,923,128
JBrowse link
G Piezo2 piezo-type mechanosensitive ion channel component 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr18:58,353,361...58,728,555
Ensembl chr18:58,354,648...58,499,836
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, PMID:10602363, PMID:10854097, PMID:10922383, PMID:11058895, PMID:11134235, PMID:11343337, PMID:11517108, PMID:11916319, PMID:15844218, PMID:17166182, PMID:19357119, PMID:20301289, PMID:21541725, PMID:24033266, PMID:24498599, PMID:25355454, PMID:25741868, PMID:26014514, PMID:26488408, PMID:26805780, PMID:28373276, PMID:28425223, PMID:28492532, PMID:28940310, PMID:30740725, PMID:32581362 NCBI chr10:7,056,258...7,077,443
Ensembl chr10:7,056,266...7,077,443
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 1:141,172,117...141,188,893
Ensembl chr 1:141,172,531...141,188,031
JBrowse link
G Polr3b RNA polymerase III subunit B ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 7:24,745,051...24,851,227
Ensembl chr 7:24,745,051...24,851,227
JBrowse link
G Pomt1 protein-O-mannosyltransferase 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:12369018, PMID:16575835, PMID:17559086, PMID:18640039, PMID:18752264, PMID:19299310, PMID:22323514, PMID:23757202, PMID:24304607, PMID:24491487, PMID:25741868, PMID:26467025, PMID:28182637, PMID:28492532, PMID:30311386 NCBI chr 3:11,253,424...11,271,873
Ensembl chr 3:11,254,026...11,271,872
JBrowse link
G Prkcg protein kinase C, gamma ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 1:64,407,098...64,433,698
Ensembl chr 1:64,407,114...64,433,636
JBrowse link
G Prx periaxin ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868, PMID:26467025, PMID:28492532, PMID:30311386 NCBI chr 1:84,302,074...84,324,560
Ensembl chr 1:84,304,228...84,324,560
JBrowse link
G Ptrh2 peptidyl-tRNA hydrolase 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25558065, PMID:27129381, PMID:28328138 NCBI chr10:74,002,151...74,012,182
Ensembl chr10:74,002,151...74,012,159
JBrowse link
G Rab33a RAB33A, member RAS oncogene family ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr  X:135,348,799...135,360,204
Ensembl chr  X:135,348,436...135,360,203
JBrowse link
G Rai1 retinoic acid induced 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr10:46,511,271...46,571,591
Ensembl chr10:46,511,271...46,571,583
JBrowse link
G Reln reelin ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 4:9,347,533...9,774,257
Ensembl chr 4:9,347,528...9,773,670
JBrowse link
G Rfc1 replication factor C subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30926972 NCBI chr14:44,627,528...44,702,205
Ensembl chr14:44,580,216...44,702,203
JBrowse link
G Rpgrip1l Rpgrip1-like ISO associated with Joubert Syndrome 7;DNA:mutations:exons: RGD PMID:17558409 RGD:11073359 NCBI chr19:17,115,266...17,208,055
Ensembl chr19:17,115,412...17,208,055
JBrowse link
G Rpl27a ribosomal protein L27a ISO CTD Direct Evidence: marker/mechanism CTD PMID:21674502 NCBI chr 1:174,132,798...174,135,816
Ensembl chr 1:174,132,798...174,135,816
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 7:142,575,629...142,683,659
Ensembl chr 7:142,575,672...142,684,114
JBrowse link
G Sepsecs Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25558065 NCBI chr14:60,657,730...60,687,950
Ensembl chr14:60,657,686...60,687,958
JBrowse link
G Setx senataxin ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25558065, PMID:26467025 NCBI chr 3:7,680,430...7,731,815
Ensembl chr 3:7,686,503...7,730,539
JBrowse link
G Slc12a1 solute carrier family 12 member 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 3:117,421,531...117,498,372
Ensembl chr 3:117,421,604...117,498,367
JBrowse link
G Slc20a2 solute carrier family 20 member 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr16:74,318,287...74,408,030
Ensembl chr16:74,317,899...74,408,030
JBrowse link
G Slc2a1 solute carrier family 2 member 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar NCBI chr 5:138,154,677...138,182,897
Ensembl chr 5:138,154,673...138,182,897
JBrowse link
G Slc33a1 solute carrier family 33 member 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 2:154,520,170...154,542,981
Ensembl chr 2:154,520,087...154,542,919
JBrowse link
G Slc6a19 solute carrier family 6 member 19 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 1:32,199,869...32,218,628
Ensembl chr 1:32,199,810...32,220,045
JBrowse link
G Snx14 sorting nexin 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25848753 NCBI chr 8:96,018,943...96,088,405
Ensembl chr 8:96,023,445...96,088,405
JBrowse link
G Spart spartin ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25558065, PMID:25741868 NCBI chr 2:144,522,382...144,548,968
Ensembl chr 2:144,522,072...144,548,917
JBrowse link
G Sptbn2 spectrin, beta, non-erythrocytic 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr 1:219,964,429...220,006,811
Ensembl chr 1:219,964,429...220,005,068
JBrowse link
G Sptlc2 serine palmitoyltransferase, long chain base subunit 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 6:111,334,408...111,417,960
Ensembl chr 6:111,339,136...111,417,954
JBrowse link
G Surf1 SURF1, cytochrome c oxidase assembly factor ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr 3:5,461,717...5,464,560
Ensembl chr 3:4,869,795...4,872,632
JBrowse link
G Syne1 spectrin repeat containing nuclear envelope protein 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia
DNA:nonsense, missense mutations:introns,exons:
ClinVar PMID:26467025, PMID:28492532, PMID:30311386, PMID:17503513 RGD:13209009 NCBI chr 1:41,608,287...41,763,591
NCBI chr 1:41,844,840...42,086,662
Ensembl chr 1:41,608,418...42,077,535
JBrowse link
G Syngap1 synaptic Ras GTPase activating protein 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr20:5,535,434...5,564,657
Ensembl chr20:5,535,432...5,564,437
JBrowse link
G Tdp2 tyrosyl-DNA phosphodiesterase 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar NCBI chr17:42,229,667...42,241,025
Ensembl chr17:42,229,642...42,241,066
JBrowse link
G Tgm6 transglutaminase 6 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868, PMID:30311386 NCBI chr 3:122,644,183...122,680,054
Ensembl chr 3:122,662,086...122,679,128
JBrowse link
G Th tyrosine hydroxylase ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 1:216,073,034...216,080,287
Ensembl chr 1:216,073,031...216,080,287
JBrowse link
G Tmem70 transmembrane protein 70 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar