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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:motor neuron disease
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Accession:DOID:231 term browser browse the term
Definition:Diseases characterized by a selective degeneration of the motor neurons of the spinal cord, brainstem, or motor cortex. Clinical subtypes are distinguished by the major site of degeneration. In AMYOTROPHIC LATERAL SCLEROSIS there is involvement of upper, lower, and brainstem motor neurons. In progressive muscular atrophy and related syndromes (see MUSCULAR ATROPHY, SPINAL) the motor neurons in the spinal cord are primarily affected. With progressive bulbar palsy (BULBAR PALSY, PROGRESSIVE), the initial degeneration occurs in the brainstem. In primary lateral sclerosis, the cortical neurons are affected in isolation. (Adams et al., Principles of Neurology, 6th ed, p1089)
Synonyms:exact_synonym: Lower Motor Neuron Disease;   Motor Neuron Diseases;   Motor System Disease;   Motor System Diseases;   Secondary Motor Neuron Disease;   familial motor neuron disease;   upper motor neuron disease
 narrow_synonym: MADRAS MOTOR NEURON DISEASE
 primary_id: MESH:D016472
 alt_id: RDO:0002003
 xref: ICD9CM:335.2
For additional species annotation, visit the Alliance of Genome Resources.


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motor neuron disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aif1 allograft inflammatory factor 1 IEP protein:increased expression:cervical spinal cord (rat) RGD PMID:18931666 RGD:2313029 NCBI chr20:5,161,350...5,167,176
Ensembl chr20:5,161,333...5,166,448
JBrowse link
G Col7a1 collagen type VII alpha 1 chain ISO ClinVar Annotator: match by term: Lower motor neuron disease ClinVar PMID:12787275, PMID:22266148, PMID:25741868, PMID:28492532, PMID:28830826, PMID:30311386, PMID:32860008 NCBI chr 8:117,694,441...117,726,844
Ensembl chr 8:117,694,605...117,726,844
JBrowse link
G Dars2 aspartyl-tRNA synthetase 2 (mitochondrial) ISO ClinVar Annotator: match by term: Lower motor neuron disease 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 Gars glycyl-tRNA synthetase ISO ClinVar Annotator: match by term: Motor neuron disease ClinVar NCBI chr 4:85,235,122...85,276,085
Ensembl chr 4:85,235,172...85,276,044
JBrowse link
G Gstt1 glutathione S-transferase theta 1 susceptibility ISO DNA:deletion: : RGD PMID:10215103 RGD:5490213 NCBI chr20:13,799,102...13,816,527
Ensembl chr20:13,799,102...13,816,526
JBrowse link
G Htra2 HtrA serine peptidase 2 treatment ISO RGD PMID:22976834, PMID:22976834 RGD:10402865, RGD:10402865 NCBI chr 4:113,883,671...113,886,833
Ensembl chr 4:113,883,670...113,886,994
JBrowse link
G Mfn2 mitofusin 2 ISO ClinVar Annotator: match by term: Lower motor neuron disease ClinVar PMID:15064763, PMID:16437557, PMID:16714318, PMID:16835246, PMID:17296794, PMID:19889647, PMID:21285398, PMID:22442078, PMID:24126688, PMID:24604904, PMID:24862862, PMID:24863639, PMID:25025039, PMID:25741868, PMID:26085578, PMID:26382835, PMID:26467025, PMID:26686600, PMID:26801520, PMID:27549087, PMID:27863451, PMID:28492532, PMID:30311386, PMID:31188717 NCBI chr 5:164,684,244...164,715,414
Ensembl chr 5:164,684,509...164,714,145
JBrowse link
G Mt3 metallothionein 3 IMP RGD PMID:16382788 RGD:6480623 NCBI chr19:11,324,708...11,326,112
Ensembl chr19:11,324,698...11,326,139
JBrowse link
G Nek1 NIMA-related kinase 1 ISO ClinVar Annotator: match by term: Motor neuron disease ClinVar PMID:25741868, PMID:28089114, PMID:28492532, PMID:29068549 NCBI chr16:32,321,010...32,439,421
Ensembl chr16:32,321,010...32,439,421
JBrowse link
G Nos1 nitric oxide synthase 1 ISO protein:decreased expression;motor neuron RGD PMID:12200626 RGD:5132629 NCBI chr12:44,214,949...44,405,530
Ensembl chr12:44,213,943...44,520,341
JBrowse link
G Optn optineurin ISO ClinVar Annotator: match by term: Motor neuron disease ClinVar PMID:28089114, PMID:28492532 NCBI chr17:77,167,700...77,218,374
Ensembl chr17:77,167,740...77,218,389
JBrowse link
G Pnpla6 patatin-like phospholipase domain containing 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18313024, PMID:20603202 NCBI chr12:2,068,749...2,098,139
Ensembl chr12:2,069,959...2,097,904
JBrowse link
G Prdx3 peroxiredoxin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16702190 NCBI chr 1:282,238,774...282,251,193
Ensembl chr 1:282,238,773...282,251,257
JBrowse link
G Rhot1 ras homolog family member T1 ISS MouseDO NCBI chr10:67,559,277...67,640,622
Ensembl chr10:67,532,030...67,640,555
JBrowse link
G Slc52a3 solute carrier family 52 member 3 ISO ClinVar Annotator: match by term: Madras motor neuron disease ClinVar PMID:25741868, PMID:28492532 NCBI chr 3:147,503,266...147,517,935
Ensembl chr 3:147,511,406...147,516,455
JBrowse link
G Sod1 superoxide dismutase 1 ISO CTD Direct Evidence: marker/mechanism
human transgene in rat model
ClinVar Annotator: match by term: Motor neuron disease
CTD
ClinVar
PMID:1259395, PMID:7635196, PMID:7673954, PMID:7997024, PMID:8004110, PMID:8058797, PMID:8069312, PMID:8446170, PMID:8528216, PMID:8572658, PMID:10400992, PMID:10732812, PMID:12165567, PMID:12358759, PMID:15056757, PMID:16702190, PMID:17394531, PMID:18301754, PMID:19259395, PMID:19483195, PMID:20184521, PMID:21549128, PMID:22292843, PMID:23286750, PMID:23726301, PMID:23773010, PMID:24439480, PMID:26362407, PMID:26467025, PMID:28089114, PMID:28089144, PMID:28105640, PMID:28291249, PMID:28492532, PMID:30637102, PMID:11717358 RGD:2290184 NCBI chr11:30,363,282...30,368,858
Ensembl chr11:30,363,280...30,368,862
JBrowse link
G Tardbp TAR DNA binding protein ISO DNA:missense mutation:cds:p.A315T(human)
ClinVar Annotator: match by term: Motor neuron disease
ClinVar PMID:18372902, PMID:19224587, PMID:19760257, PMID:25442115, PMID:25741868, PMID:28089114, PMID:28492532, PMID:18288693 RGD:5687193 NCBI chr 5:165,432,089...165,442,232
Ensembl chr 5:165,432,095...165,442,048
JBrowse link
G Tbk1 TANK-binding kinase 1 ISO ClinVar Annotator: match by term: Motor neuron disease ClinVar PMID:28089114 NCBI chr 7:63,655,247...63,687,978
Ensembl chr 7:63,655,247...63,687,978
JBrowse link
G Vim vimentin ISO CTD Direct Evidence: marker/mechanism CTD PMID:16831193 NCBI chr17:80,882,715...80,891,200
Ensembl chr17:80,882,666...80,891,212
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
protein:increased expression:cerebrospinal fluid
DNA:missense mutation, SNPs: :p.I46V, rs11701, rs2228653 (human)
DNA:missense mutations
ClinVar PMID:25741868, PMID:22190368, PMID:19177252, PMID:17462671, PMID:16501576 RGD:6892707, RGD:6892713, RGD:6892716, RGD:6892718 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
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 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
Brown-Vialetto-Van Laere syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc52a2 solute carrier family 52 member 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:117,605,038...117,608,460
Ensembl chr 7:117,605,050...117,608,460
JBrowse link
G Slc52a3 solute carrier family 52 member 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:147,503,266...147,517,935
Ensembl chr 3:147,511,406...147,516,455
JBrowse link
Brown-Vialetto-Van Laere syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc52a2 solute carrier family 52 member 2 ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 1 ClinVar PMID:25741868 NCBI chr 7:117,605,038...117,608,460
Ensembl chr 7:117,605,050...117,608,460
JBrowse link
G Slc52a3 solute carrier family 52 member 3 ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 1 ClinVar
OMIM
PMID:2020633, PMID:16122634, PMID:20206331, PMID:20920669, PMID:21110228, PMID:22273710, PMID:22633641, PMID:22718020, PMID:22740598, PMID:22824638, PMID:23107375, PMID:23688382, PMID:24033266, PMID:25741868, PMID:26072523, PMID:26443808, PMID:27702554, PMID:27777325, PMID:28251916, PMID:28492532, PMID:29053833, PMID:29501408, PMID:30311386 NCBI chr 3:147,503,266...147,517,935
Ensembl chr 3:147,511,406...147,516,455
JBrowse link
Brown-Vialetto-Van Laere syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adck5 aarF domain containing kinase 5 ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chr 7:117,643,976...117,661,789
Ensembl chr 7:117,643,206...117,661,845
JBrowse link
G Bop1 BOP1 ribosomal biogenesis factor ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chr 7:117,514,529...117,538,342
Ensembl chr 7:117,514,533...117,538,342
JBrowse link
G Cpsf1 cleavage and polyadenylation specific factor 1 ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chr 7:117,661,779...117,672,373
Ensembl chr 7:117,661,661...117,672,373
JBrowse link
G Cyc1 cytochrome c-1 ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chr 7:117,409,576...117,411,953
Ensembl chr 7:117,409,576...117,411,953
JBrowse link
G Cyhr1 cysteine and histidine rich 1 ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chr 7:117,720,909...117,722,734
Ensembl chr 7:117,706,727...117,722,723
JBrowse link
G Dgat1 diacylglycerol O-acyltransferase 1 ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chr 7:117,566,363...117,576,735
Ensembl chr 7:117,566,368...117,576,737
JBrowse link
G Exosc4 exosome component 4 ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chr 7:117,390,302...117,393,044
Ensembl chr 7:117,390,285...117,393,719
JBrowse link
G Fbxl6 F-box and leucine-rich repeat protein 6 ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chr 7:117,602,056...117,604,954
Ensembl chr 7:117,602,041...117,605,141
JBrowse link
G Foxh1 forkhead box H1 ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chr 7:117,730,307...117,733,076
Ensembl chr 7:117,730,307...117,732,387
JBrowse link
G Gpaa1 glycosylphosphatidylinositol anchor attachment 1 ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chr 7:117,394,367...117,397,950
Ensembl chr 7:117,394,372...117,397,956
JBrowse link
G Grina glutamate ionotropic receptor NMDA type subunit associated protein 1 ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chr 7:117,304,742...117,307,916
Ensembl chr 7:117,304,742...117,307,916
JBrowse link
G Hgh1 HGH1 homolog ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chr 7:117,434,419...117,437,208
Ensembl chr 7:117,434,419...117,437,205
JBrowse link
G Hsf1 heat shock transcription factor 1 ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chr 7:117,538,523...117,565,478
Ensembl chr 7:117,538,523...117,565,478
JBrowse link
G Kifc2 kinesin family member C2 ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chr 7:117,722,732...117,730,702
Ensembl chr 7:117,723,263...117,730,702
JBrowse link
G Maf1 MAF1 homolog, negative regulator of RNA polymerase III ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chr 7:117,417,643...117,420,722
Ensembl chr 7:117,417,687...117,420,719
JBrowse link
G Mroh1 maestro heat-like repeat family member 1 ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chr 7:117,445,191...117,472,418
Ensembl chr 7:117,445,144...117,514,612
JBrowse link
G Oplah 5-oxoprolinase (ATP-hydrolysing) ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chr 7:117,353,951...117,394,205
Ensembl chr 7:117,353,786...117,369,159
JBrowse link
G Parp10 poly (ADP-ribose) polymerase family, member 10 ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chr 7:117,291,592...117,300,878
Ensembl chr 7:117,291,877...117,300,662
JBrowse link
G Plec plectin ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chr 7:117,230,319...117,291,859
Ensembl chr 7:117,230,319...117,289,961
JBrowse link
G Scrt1 scratch family transcriptional repressor 1 ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chr 7:117,583,453...117,587,103
Ensembl chr 7:117,583,453...117,587,103
JBrowse link
G Scx scleraxis bHLH transcription factor ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chr 7:117,519,075...117,521,093
Ensembl chr 7:117,519,075...117,521,093
JBrowse link
G Sharpin SHANK-associated RH domain interactor ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chr 7:117,413,151...117,417,455
Ensembl chr 7:117,413,152...117,417,363
JBrowse link
G Slc39a4 solute carrier family 39 member 4 ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chr 7:117,675,718...117,682,586
Ensembl chr 7:117,675,720...117,680,004
JBrowse link
G Slc52a2 solute carrier family 52 member 2 ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2
ClinVar Annotator: match by term: Brown-vialetto-van laere syndrome 2
ClinVar Annotator: match by OMIM:614707
OMIM
ClinVar
PMID:10797435, PMID:22740598, PMID:22824638, PMID:22864630, PMID:23107375, PMID:23243084, PMID:24033266, PMID:24253200, PMID:24616084, PMID:25133958, PMID:25356970, PMID:25741868, PMID:25798182, PMID:25807286, PMID:26633542, PMID:26669662, PMID:27148561, PMID:27518768, PMID:27702554, PMID:28492532, PMID:29053833, PMID:29858556, PMID:29961509, PMID:30343981 NCBI chr 7:117,605,038...117,608,460
Ensembl chr 7:117,605,050...117,608,460
JBrowse link
G Spatc1 spermatogenesis and centriole associated 1 ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chr 7:117,326,279...117,349,957
Ensembl chr 7:117,326,279...117,349,957
JBrowse link
G Tmem249 transmembrane protein 249 ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chr 7:117,599,001...117,601,894 JBrowse link
G Tonsl tonsoku-like, DNA repair protein ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chr 7:117,688,397...117,703,139
Ensembl chr 7:117,688,397...117,703,094
JBrowse link
G Vps28 VPS28 subunit of ESCRT-I ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chr 7:117,684,339...117,688,187
Ensembl chr 7:117,684,339...117,688,187
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
childhood spinal muscular atrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 6:134,958,854...135,085,769
Ensembl chr 6:134,958,854...135,085,769
JBrowse link
G Smn1 survival of motor neuron 1, telomeric ISO CTD Direct Evidence: marker/mechanism CTD PMID:17924536 NCBI chr 2:30,360,101...30,371,147
Ensembl chr 2:30,360,100...30,371,147
JBrowse link
Congenital Arthrogryposis with Anterior Horn Cell Disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gle1 GLE1 RNA export mediator ISO ClinVar Annotator: match by term: Lethal arthrogryposis with anterior horn cell disease
ClinVar Annotator: match by OMIM:611890
OMIM
ClinVar
PMID:3993672, PMID:7770128, PMID:16892327, PMID:18204449, PMID:23421748, PMID:24243016, PMID:24961629, PMID:25343993, PMID:25741868, PMID:27684565, PMID:28492532, PMID:28657126, PMID:28884921, PMID:29899397 NCBI chr 3:8,498,098...8,530,218
Ensembl chr 3:8,498,122...8,526,771
JBrowse link
distal hereditary motor neuronopathy type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dctn1 dynactin subunit 1 ISO ClinVar Annotator: match by term: Distal hereditary motor neuronopathy ClinVar NCBI chr 4:114,876,770...114,896,567
Ensembl chr 4:114,876,770...114,896,573
JBrowse link
G Hspb1 heat shock protein family B (small) member 1 ISO ClinVar Annotator: match by term: Distal hereditary motor neuronopathy ClinVar NCBI chr12:23,839,390...23,841,051
Ensembl chr12:23,839,399...23,841,049
JBrowse link
G Hspb3 heat shock protein family B (small) member 3 ISO ClinVar Annotator: match by term: Distal hereditary motor neuronopathy ClinVar NCBI chr 2:45,517,788...45,518,502
Ensembl chr 2:45,517,789...45,518,502
JBrowse link
distal hereditary motor neuronopathy type 2A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hspb8 heat shock protein family B (small) member 8 ISO ClinVar Annotator: match by term: Distal hereditary motor neuronopathy type 2A
ClinVar Annotator: match by term: SPINAL MUSCULAR ATROPHY, DISTAL, ADULT, AUTOSOMAL DOMINANT, IIA
ClinVar Annotator: match by OMIM:158590
OMIM
ClinVar
PMID:1517763, PMID:15122253, PMID:20538880, PMID:21985219, PMID:25741868, PMID:26467025, PMID:26718575, PMID:26986878, PMID:28251916, PMID:28492532 NCBI chr12:45,905,371...45,920,014
Ensembl chr12:45,905,371...45,920,013
JBrowse link
distal hereditary motor neuronopathy type 2C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hspb3 heat shock protein family B (small) member 3 ISO ClinVar Annotator: match by term: Distal hereditary motor neuronopathy type 2C
ClinVar Annotator: match by term: NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE IIC
OMIM
ClinVar
PMID:20142617, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr 2:45,517,788...45,518,502
Ensembl chr 2:45,517,789...45,518,502
JBrowse link
distal hereditary motor neuronopathy type 2D term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbxo38 F-box protein 38 ISO ClinVar Annotator: match by term: Distal hereditary motor neuronopathy 2D
ClinVar Annotator: match by term: SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL DOMINANT, CALF-PREDOMINANT
OMIM
ClinVar
PMID:7723957, PMID:24207122, PMID:25741868, PMID:28492532 NCBI chr18:57,827,391...57,874,515
Ensembl chr18:57,827,392...57,866,741
JBrowse link
distal hereditary motor neuronopathy type 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bscl2 BSCL2 lipid droplet biogenesis associated, seipin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Distal hereditary motor neuronopathy type 5
CTD
ClinVar
PMID:1674639, PMID:5964029, PMID:14981520, PMID:15732094, PMID:16427281, PMID:16574104, PMID:17387721, PMID:17486577, PMID:18585921, PMID:18790819, PMID:19226263, PMID:19396477, PMID:20598714, PMID:21750110, PMID:21957196, PMID:22045697, PMID:22474068, PMID:23553728, PMID:23963299, PMID:23989774, PMID:24345054, PMID:24604904, PMID:25219579, PMID:25454168, PMID:25487175, PMID:25588603, PMID:25741868, PMID:26467025, PMID:26815532, PMID:27144933, PMID:28492532 NCBI chr 1:225,035,956...225,046,137
Ensembl chr 1:225,037,737...225,046,040
JBrowse link
G Gars glycyl-tRNA synthetase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Distal hereditary motor neuronopathy type 5
CTD
ClinVar
PMID:8541851, PMID:9879677, PMID:12690580, PMID:16014653, PMID:16534118, PMID:16769947, PMID:17595294, PMID:19329989, PMID:25168514, PMID:25476837, PMID:25614874, PMID:25741868, PMID:26392352, PMID:26467025, PMID:27582484, PMID:27790088, PMID:28160950, PMID:28492532, PMID:28594869, PMID:30311386 NCBI chr 4:85,235,122...85,276,085
Ensembl chr 4:85,235,172...85,276,044
JBrowse link
G Pnpo pyridoxamine 5'-phosphate oxidase ISO ClinVar Annotator: match by term: Distal hereditary motor neuronopathy type 5 ClinVar PMID:24266778, PMID:24645144, PMID:24658933, PMID:24781210, PMID:25741868, PMID:25762494, PMID:28492532, PMID:30311386 NCBI chr10:84,874,926...84,881,190
Ensembl chr10:84,874,927...84,881,190
JBrowse link
G Reep1 receptor accessory protein 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:99,618,622...99,735,329
Ensembl chr 4:99,618,622...99,735,319
JBrowse link
distal hereditary motor neuronopathy type 5A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bscl2 BSCL2 lipid droplet biogenesis associated, seipin ISO OMIM NCBI chr 1:225,035,956...225,046,137
Ensembl chr 1:225,037,737...225,046,040
JBrowse link
G Gars glycyl-tRNA synthetase ISO OMIM NCBI chr 4:85,235,122...85,276,085
Ensembl chr 4:85,235,172...85,276,044
JBrowse link
distal hereditary motor neuronopathy type 5B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Reep1 receptor accessory protein 1 ISO ClinVar Annotator: match by OMIM:614751 OMIM
ClinVar
PMID:22703882 NCBI chr 4:99,618,622...99,735,329
Ensembl chr 4:99,618,622...99,735,319
JBrowse link
distal hereditary motor neuronopathy type 7A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc138 coiled-coil domain containing 138 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type viia ClinVar PMID:28492532 NCBI chr20:28,076,784...28,158,053
Ensembl chr20:28,078,500...28,157,071
JBrowse link
G Edar ectodysplasin-A receptor ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type viia ClinVar PMID:28492532 NCBI chr20:28,179,132...28,263,092
Ensembl chr20:28,179,140...28,263,037
JBrowse link
G Gcc2 GRIP and coiled-coil domain containing 2 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type viia ClinVar PMID:28492532 NCBI chr20:27,832,960...27,879,764
Ensembl chr20:27,832,932...27,879,759
JBrowse link
G Lims1 LIM zinc finger domain containing 1 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type viia ClinVar PMID:28492532 NCBI chr20:27,895,981...28,004,767
Ensembl chr20:27,954,433...28,002,082
JBrowse link
G LOC100910235 sulfotransferase 1C1-like ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type viia ClinVar PMID:28492532 NCBI chr 9:4,323,997...4,328,175
Ensembl chr 9:4,324,211...4,327,679
JBrowse link
G Ranbp2 RAN binding protein 2 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type viia ClinVar PMID:28492532 NCBI chr20:28,027,054...28,076,664
NCBI chr20:28,365,538...28,375,676
Ensembl chr20:28,027,054...28,076,664
Ensembl chr20:28,027,054...28,076,664
JBrowse link
G Slc5a7 solute carrier family 5 member 7 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type viia
ClinVar Annotator: match by OMIM:158580
OMIM
ClinVar
PMID:7420092, PMID:11294660, PMID:23141292, PMID:25741868, PMID:27569547, PMID:28492532 NCBI chr 9:5,294,377...5,330,822
Ensembl chr 9:5,294,381...5,330,815
JBrowse link
G Sult1c2a sulfotransferase family, cytosolic, 1C, member 2a ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type viia ClinVar PMID:28492532 NCBI chr 9:4,152,588...4,168,355
Ensembl chr 9:4,152,589...4,168,221
JBrowse link
G Sult1c3 sulfotransferase family 1C member 3 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type viia ClinVar PMID:28492532 NCBI chr 9:4,931,038...4,978,847
Ensembl chr 9:4,930,818...4,978,892
JBrowse link
distal hereditary motor neuronopathy type 7B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dctn1 dynactin subunit 1 ISO ClinVar Annotator: match by term: Distal hereditary motor neuronopathy type 7B
ClinVar Annotator: match by term: Genetic motor neuron disease
ClinVar Annotator: match by term: NEUROPATHY, DISTAL HEREDITARY MOTOR, WITH VOCAL CORD PARALYSIS, TYPE VIIB
OMIM
ClinVar
PMID:12062019, PMID:12627231, PMID:15326253, PMID:16505168, PMID:17824900, PMID:18094236, PMID:18364389, PMID:18812314, PMID:19279216, PMID:19506225, PMID:22777741, PMID:23143281, PMID:24627108, PMID:25025039, PMID:25299611, PMID:25382069, PMID:25635128, PMID:25741868, PMID:26392352, PMID:26429889, PMID:26467025, PMID:26662454, PMID:27132499, PMID:27573046, PMID:28130640, PMID:28430856, PMID:28492532, PMID:29525180 NCBI chr 4:114,876,770...114,896,567
Ensembl chr 4:114,876,770...114,896,573
JBrowse link
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Genetic motor neuron disease ClinVar PMID:25635128 NCBI chr 6:134,958,854...135,085,769
Ensembl chr 6:134,958,854...135,085,769
JBrowse link
G Gars glycyl-tRNA synthetase ISO ClinVar Annotator: match by term: Genetic motor neuron disease ClinVar PMID:25635128 NCBI chr 4:85,235,122...85,276,085
Ensembl chr 4:85,235,172...85,276,044
JBrowse link
G Mfn2 mitofusin 2 ISO ClinVar Annotator: match by term: Genetic motor neuron disease ClinVar PMID:16714318, PMID:18425620, PMID:21715711, PMID:22206013, PMID:26955893, PMID:28492532 NCBI chr 5:164,684,244...164,715,414
Ensembl chr 5:164,684,509...164,714,145
JBrowse link
G Mpz myelin protein zero ISO ClinVar Annotator: match by term: Genetic motor neuron disease ClinVar PMID:28492532 NCBI chr13:89,524,204...89,530,070
Ensembl chr13:89,524,329...89,530,068
JBrowse link
G Nefl neurofilament light ISO ClinVar Annotator: match by term: Genetic motor neuron disease ClinVar PMID:26467025, PMID:28492532 NCBI chr15:44,799,378...44,803,251
Ensembl chr15:44,799,334...44,804,574
JBrowse link
G Plekhg5 pleckstrin homology and RhoGEF domain containing G5 ISO ClinVar Annotator: match by term: Genetic motor neuron disease ClinVar PMID:16728649, PMID:17564964 NCBI chr 5:169,244,778...169,288,310
Ensembl chr 5:169,244,778...169,288,309
JBrowse link
G Scn11a sodium voltage-gated channel alpha subunit 11 ISO ClinVar Annotator: match by term: Genetic motor neuron disease ClinVar PMID:24776970, PMID:28492532, PMID:29213238 NCBI chr 8:128,450,793...128,527,510
Ensembl chr 8:128,450,801...128,521,109
JBrowse link
G Setx senataxin ISO ClinVar Annotator: match by term: Genetic motor neuron disease ClinVar PMID:24533459 NCBI chr 3:7,680,430...7,731,815
Ensembl chr 3:7,686,503...7,730,539
JBrowse link
G Sh3tc2 SH3 domain and tetratricopeptide repeats 2 ISO ClinVar Annotator: match by term: Genetic motor neuron disease ClinVar PMID:28492532 NCBI chr18:57,286,266...57,403,926
Ensembl chr18:57,286,322...57,347,577
JBrowse link
G Trpv4 transient receptor potential cation channel, subfamily V, member 4 ISO ClinVar Annotator: match by term: Genetic motor neuron disease ClinVar PMID:20037586, PMID:20037587, PMID:20037588, PMID:20460441, PMID:21336783, PMID:22702953, PMID:24575025, PMID:24789864, PMID:24963089, PMID:25900305, PMID:26110311, PMID:26467025, PMID:26948711, PMID:27751652, PMID:28492532 NCBI chr12:47,698,915...47,737,902
Ensembl chr12:47,698,947...47,737,902
JBrowse link
distal hereditary motor neuronopathy type 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trpv4 transient receptor potential cation channel, subfamily V, member 4 ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy, congenital nonprogressive
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VIII
OMIM
ClinVar
CTD
PMID:956253, PMID:1520078, PMID:4056805, PMID:8179305, PMID:10463355, PMID:11891693, PMID:14755468, PMID:15668982, PMID:18587396, PMID:19232556, PMID:19661060, PMID:19666518, PMID:20037586, PMID:20037587, PMID:20037588, PMID:20104247, PMID:20425821, PMID:20460441, PMID:20503319, PMID:20577006, PMID:21115951, PMID:21288981, PMID:21336783, PMID:21454511, PMID:21964574, PMID:22065612, PMID:22291064, PMID:22419508, PMID:22526352, PMID:22675077, PMID:22689196, PMID:22702953, PMID:22791502, PMID:22851605, PMID:24575025, PMID:24677493, PMID:24789864, PMID:24963089, PMID:25256292, PMID:25741868, PMID:25900305, PMID:26048687, PMID:26110311, PMID:26249260, PMID:26392352, PMID:26467025, PMID:26948711, PMID:27330106, PMID:27549087, PMID:27751652, PMID:28492532, PMID:28898540 NCBI chr12:47,698,915...47,737,902
Ensembl chr12:47,698,947...47,737,902
JBrowse link
distal hereditary motor neuronopathy type 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wars1 tryptophanyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 9 OMIM
ClinVar
PMID:28369220, PMID:30311386, PMID:31069783, PMID:31321409 NCBI chr 6:132,771,026...132,802,262
Ensembl chr 6:132,771,021...132,802,210
JBrowse link
distal hereditary motor neuropathy type 2B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hspb1 heat shock protein family B (small) member 1 ISO ClinVar Annotator: match by term: NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB
ClinVar Annotator: match by term: HSPB1-Related Disorder
ClinVar Annotator: match by OMIM:608634
OMIM
ClinVar
PMID:11528513, PMID:15122254, PMID:16087758, PMID:16155736, PMID:16368711, PMID:17623484, PMID:17881652, PMID:18325928, PMID:18832141, PMID:20178975, PMID:20660910, PMID:22031878, PMID:22057845, PMID:22176143, PMID:22734906, PMID:23643870, PMID:25741868, PMID:26467025, PMID:26986878, PMID:27816334, PMID:28144995, PMID:28492532, PMID:28595321, PMID:28702508, PMID:29381233 NCBI chr12:23,839,390...23,841,051
Ensembl chr12:23,839,399...23,841,049
JBrowse link
distal spinal muscular atrophy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ighmbp2 immunoglobulin mu DNA binding protein 2 ISO DNA:mutations:multiple (human)
ClinVar Annotator: match by term: Spinal muscular atrophy, distal, autosomal recessive, 1
ClinVar Annotator: match by OMIM:604320
ClinVar
OMIM
PMID:234316, PMID:1461881, PMID:11528396, PMID:14506069, PMID:14681881, PMID:15108294, PMID:15248100, PMID:15503272, PMID:15599641, PMID:15797190, PMID:16765827, PMID:16964485, PMID:17431882, PMID:18802676, PMID:19157874, PMID:19158098, PMID:20031928, PMID:21353777, PMID:21902652, PMID:22157136, PMID:22791546, PMID:23449687, PMID:23566544, PMID:23806086, PMID:23929295, PMID:24022109, PMID:24033266, PMID:24088041, PMID:24388491, PMID:24922459, PMID:25326635, PMID:25439726, PMID:25454169, PMID:25568292, PMID:25741868, PMID:26136520, PMID:26257172, PMID:26298607, PMID:26392352, PMID:26467025, PMID:26709713, PMID:26922252, PMID:27450922, PMID:28065684, PMID:28202949, PMID:28251916, PMID:28397221, PMID:28492532, PMID:28902413, PMID:29858556, PMID:30311386, PMID:30598237, PMID:11528396 RGD:737748 NCBI chr 1:218,509,274...218,531,922
Ensembl chr 1:218,508,950...218,532,142
JBrowse link
distal spinal muscular atrophy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arhgef39 Rho guanine nucleotide exchange factor 39 ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 ClinVar PMID:28492532 NCBI chr 5:58,998,209...59,001,779
Ensembl chr 5:58,995,249...59,001,800
JBrowse link
G Arid3c AT-rich interaction domain 3C ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 ClinVar PMID:28492532 NCBI chr 5:58,107,182...58,114,632
Ensembl chr 5:58,107,707...58,113,553
JBrowse link
G Ca9 carbonic anhydrase 9 ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 ClinVar PMID:28492532 NCBI chr 5:59,008,277...59,015,535
Ensembl chr 5:59,008,933...59,015,528
JBrowse link
G Ccdc107 coiled-coil domain containing 107 ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 ClinVar PMID:28492532 NCBI chr 5:58,995,211...58,998,620
Ensembl chr 5:58,995,249...58,997,953
JBrowse link
G Ccin calicin ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 ClinVar PMID:28492532 NCBI chr 5:59,452,348...59,454,235
Ensembl chr 5:59,452,348...59,454,233
JBrowse link
G Ccl19 C-C motif chemokine ligand 19 ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 ClinVar PMID:28492532 NCBI chr 5:58,181,025...58,182,969
Ensembl chr 5:58,181,026...58,183,017
JBrowse link
G Ccl21 C-C motif chemokine ligand 21 ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 ClinVar PMID:28492532 NCBI chr 5:58,197,678...58,198,782
Ensembl chr 5:58,197,680...58,198,782
JBrowse link
G Ccl27 C-C motif chemokine ligand 27 ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 ClinVar PMID:28492532 NCBI chr 5:58,159,066...58,166,182
Ensembl chr 5:58,159,066...58,163,584
JBrowse link
G Cd72 Cd72 molecule ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 ClinVar PMID:28492532 NCBI chr 5:58,943,021...58,950,373
Ensembl chr 5:58,943,027...58,950,373
JBrowse link
G Clta clathrin, light chain A ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 ClinVar PMID:28492532 NCBI chr 5:59,490,689...59,509,139
Ensembl chr 5:59,491,096...59,509,138
JBrowse link
G Cntfr ciliary neurotrophic factor receptor ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 ClinVar PMID:28492532 NCBI chr 5:58,041,114...58,078,687
Ensembl chr 5:58,041,146...58,078,545
JBrowse link
G Creb3 cAMP responsive element binding protein 3 ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 ClinVar PMID:28492532 NCBI chr 5:59,063,532...59,068,196
Ensembl chr 5:59,063,531...59,068,188
JBrowse link
G Dctn3 dynactin subunit 3 ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 ClinVar PMID:28492532 NCBI chr 5:58,098,706...58,106,706
Ensembl chr 5:58,098,706...58,106,706
JBrowse link
G Dnai1 dynein, axonemal, intermediate chain 1 ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 ClinVar PMID:28492532 NCBI chr 5:57,947,796...58,017,985
Ensembl chr 5:57,947,716...58,017,992
JBrowse link
G Dnajb5 DnaJ heat shock protein family (Hsp40) member B5 ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 ClinVar PMID:28492532 NCBI chr 5:58,393,197...58,402,162
Ensembl chr 5:58,393,233...58,401,870
JBrowse link
G Enho energy homeostasis associated ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 ClinVar PMID:28492532 NCBI chr 5:58,018,039...58,019,836
Ensembl chr 5:58,018,039...58,019,836
JBrowse link
G Fam166b family with sequence similarity 166, member B ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 ClinVar PMID:28492532 NCBI chr 5:58,883,064...58,884,136 JBrowse link
G Fam205a family with sequence similarity 205, member A ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 ClinVar PMID:28492532 NCBI chr 5:58,282,202...58,303,075
Ensembl chr 5:58,282,379...58,288,125
JBrowse link
G Fam214b family with sequence similarity 214, member B ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 ClinVar PMID:28492532 NCBI chr 5:58,477,894...58,484,900
Ensembl chr 5:58,477,894...58,484,900
JBrowse link
G Fam221b family with sequence similarity 221, member B ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 ClinVar PMID:28492532 NCBI chr 5:59,156,079...59,165,440
Ensembl chr 5:59,156,071...59,165,160
JBrowse link
G Fancg FA complementation group G ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 ClinVar PMID:28492532 NCBI chr 5:58,448,060...58,456,416
Ensembl chr 5:58,448,822...58,455,819
JBrowse link
G Galt galactose-1-phosphate uridylyltransferase ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 ClinVar PMID:28492532 NCBI chr 5:58,144,679...58,147,946
Ensembl chr 5:58,144,705...58,147,929
JBrowse link
G Gba2 glucosylceramidase beta 2 ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 ClinVar PMID:28492532 NCBI chr 5:59,068,081...59,079,719
Ensembl chr 5:59,068,081...59,079,719
JBrowse link
G Glipr2 GLI pathogenesis-related 2 ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 ClinVar PMID:28492532 NCBI chr 5:59,415,415...59,446,732
Ensembl chr 5:59,416,076...59,446,647
JBrowse link
G Gne glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 ClinVar PMID:28492532 NCBI chr 5:59,511,738...59,553,421
Ensembl chr 5:59,512,872...59,553,416
JBrowse link
G Hint2 histidine triad nucleotide binding protein 2 ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 ClinVar PMID:28492532 NCBI chr 5:59,150,344...59,152,599
Ensembl chr 5:59,150,345...59,152,599
JBrowse link
G Hrct1 histidine rich carboxyl terminus 1 ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 ClinVar PMID:28492532 NCBI chr 5:59,228,138...59,228,915
Ensembl chr 5:59,228,199...59,228,519
JBrowse link
G Il11ra1 interleukin 11 receptor subunit alpha 1 ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 ClinVar PMID:28492532 NCBI chr 5:58,149,150...58,159,072
Ensembl chr 5:58,151,985...58,159,072
JBrowse link
G LOC100360821 rCG55159-like ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 ClinVar PMID:28492532 NCBI chr 5:58,416,058...58,421,991
Ensembl chr 5:58,416,432...58,420,342
JBrowse link
G Msmp microseminoprotein, prostate associated ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 ClinVar PMID:28492532 Ensembl chr 5:59,084,626...59,085,676 JBrowse link
G Npr2 natriuretic peptide receptor 2 ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 ClinVar PMID:28492532 NCBI chr 5:59,128,186...59,147,321
Ensembl chr 5:59,128,315...59,147,255
JBrowse link
G Olr834 olfactory receptor 834 ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 ClinVar PMID:28492532 NCBI chr 5:59,207,120...59,208,058
Ensembl chr 5:59,207,120...59,208,058
JBrowse link
G Olr838 olfactory receptor 838 ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 ClinVar PMID:28492532 NCBI chr 5:59,291,988...59,292,944
Ensembl chr 5:59,291,988...59,292,944
JBrowse link
G Phf24 PHD finger protein 24 ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 ClinVar PMID:28492532 NCBI chr 5:58,359,744...58,387,446
Ensembl chr 5:58,359,498...58,383,070
JBrowse link
G Pigo phosphatidylinositol glycan anchor biosynthesis, class O ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 ClinVar PMID:28492532 NCBI chr 5:58,461,055...58,470,699
Ensembl chr 5:58,461,759...58,469,399
JBrowse link
G Reck reversion-inducing-cysteine-rich protein with kazal motifs ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 ClinVar PMID:28492532 NCBI chr 5:59,348,568...59,415,169
Ensembl chr 5:59,348,639...59,415,135
JBrowse link
G Rgp1 RGP1 homolog, RAB6A GEF complex partner 1 ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 ClinVar PMID:28492532 NCBI chr 5:59,080,290...59,088,777
Ensembl chr 5:59,080,765...59,088,523
JBrowse link
G Rpp25l ribonuclease P/MRP subunit p25 like ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 ClinVar PMID:28492532 NCBI chr 5:58,096,037...58,097,577
Ensembl chr 5:58,096,213...58,097,577
JBrowse link
G Rusc2 RUN and SH3 domain containing 2 ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 ClinVar PMID:28492532 NCBI chr 5:58,860,444...58,883,152
Ensembl chr 5:58,855,773...58,882,096
JBrowse link
G Sigmar1 sigma non-opioid intracellular receptor 1 ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 ClinVar
OMIM
PMID:24088041, PMID:25741868, PMID:26078401, PMID:26467025, PMID:26633545, PMID:27629094, PMID:28492532, PMID:28708278 NCBI chr 5:58,121,824...58,124,687
Ensembl chr 5:58,121,786...58,124,681
JBrowse link
G Sit1 signaling threshold regulating transmembrane adaptor 1 ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 ClinVar PMID:28492532 NCBI chr 5:58,985,912...58,987,538
Ensembl chr 5:58,985,829...58,987,760
JBrowse link
G Spag8 sperm associated antigen 8 ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 ClinVar PMID:28492532 NCBI chr 5:59,147,412...59,149,625
Ensembl chr 5:59,147,337...59,149,699
JBrowse link
G Stoml2 stomatin like 2 ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 ClinVar PMID:28492532 NCBI chr 5:58,472,561...58,476,158
Ensembl chr 5:58,472,550...58,476,251
JBrowse link
G Tesk1 testis associated actin remodelling kinase 1 ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 ClinVar PMID:28492532 NCBI chr 5:58,937,615...58,943,358
Ensembl chr 5:58,937,615...58,943,358
JBrowse link
G Tln1 talin 1 ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 ClinVar PMID:28492532 NCBI chr 5:59,033,635...59,063,592
Ensembl chr 5:59,033,636...59,063,592
JBrowse link
G Tmem8b transmembrane protein 8B ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 ClinVar PMID:28492532 NCBI chr 5:59,165,552...59,193,772
Ensembl chr 5:59,178,846...59,191,975
JBrowse link
G Tpm2 tropomyosin 2 ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 ClinVar PMID:28492532 NCBI chr 5:59,016,616...59,025,971
Ensembl chr 5:59,016,622...59,025,631
JBrowse link
G Unc13b unc-13 homolog B ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 ClinVar PMID:28492532 NCBI chr 5:58,505,449...58,714,396
Ensembl chr 5:58,505,500...58,715,576
JBrowse link
G Vcp valosin-containing protein ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2 ClinVar PMID:28492532 NCBI chr 5:58,426,548...58,445,953
Ensembl chr 5:58,426,549...58,445,953
JBrowse link
distal spinal muscular atrophy type 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Plekhg5 pleckstrin homology and RhoGEF domain containing G5 ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 4
ClinVar Annotator: match by OMIM:611067
OMIM
ClinVar
PMID:16728649, PMID:17564964, PMID:23777631, PMID:23844677, PMID:25741868, PMID:26392352, PMID:26752306, PMID:28492532 NCBI chr 5:169,244,778...169,288,310
Ensembl chr 5:169,244,778...169,288,309
JBrowse link
G Tnfrsf25 TNF receptor superfamily member 25 ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 4 ClinVar NCBI chr 5:169,288,419...169,293,137
Ensembl chr 5:169,288,871...169,293,137
JBrowse link
distal spinal muscular atrophy type 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Des desmin ISO ClinVar Annotator: match by term: Spinal muscular atrophy, distal, autosomal recessive, 5 ClinVar PMID:28492532 NCBI chr 9:82,556,574...82,564,288
Ensembl chr 9:82,556,573...82,564,294
JBrowse link
G Dnajb2 DnaJ heat shock protein family (Hsp40) member B2 ISO ClinVar Annotator: match by term: Spinal muscular atrophy, distal, autosomal recessive, 5
ClinVar Annotator: match by OMIM:614881
OMIM
ClinVar
PMID:22522442, PMID:23806086, PMID:24088041, PMID:24627108, PMID:25274842, PMID:25741868, PMID:26257172, PMID:27083531, PMID:27449489, PMID:28492532 NCBI chr 9:82,436,453...82,444,669
Ensembl chr 9:82,436,458...82,444,668
JBrowse link
G Dnpep aspartyl aminopeptidase ISO ClinVar Annotator: match by term: Spinal muscular atrophy, distal, autosomal recessive, 5 ClinVar PMID:28492532 NCBI chr 9:82,505,529...82,514,399
Ensembl chr 9:82,505,530...82,514,399
JBrowse link
G Ptprn protein tyrosine phosphatase, receptor type, N ISO ClinVar Annotator: match by term: Spinal muscular atrophy, distal, autosomal recessive, 5 ClinVar PMID:28492532 NCBI chr 9:82,446,626...82,462,314
Ensembl chr 9:82,446,633...82,461,903
JBrowse link
G Resp18 regulated endocrine-specific protein 18 ISO ClinVar Annotator: match by term: Spinal muscular atrophy, distal, autosomal recessive, 5 ClinVar PMID:28492532 NCBI chr 9:82,470,794...82,477,136
Ensembl chr 9:82,470,759...82,477,181
JBrowse link
Fazio-Londe disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc52a3 solute carrier family 52 member 3 ISO ClinVar Annotator: match by term: Progressive bulbar palsy of childhood ClinVar
OMIM
PMID:21110228 NCBI chr 3:147,503,266...147,517,935
Ensembl chr 3:147,511,406...147,516,455
JBrowse link
Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adam10 ADAM metallopeptidase domain 10 ISO ClinVar Annotator: match by term: Corticobasal syndrome ClinVar PMID:25741868 NCBI chr 8:77,107,355...77,237,483
Ensembl chr 8:77,107,536...77,237,483
JBrowse link
G RGD1359108 similar to RIKEN cDNA 3110043O21 ISO ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis/Frontotemporal Dementia ClinVar NCBI chr 5:50,666,444...50,691,523
Ensembl chr 5:50,668,040...50,684,409
JBrowse link
G Ttc3 tetratricopeptide repeat domain 3 ISO ClinVar Annotator: match by term: Corticobasal syndrome ClinVar PMID:25741868 NCBI chr11:34,598,324...34,739,986
Ensembl chr11:34,598,492...34,738,791
JBrowse link
frontotemporal dementia and/or amyotrophic lateral sclerosis-1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RGD1359108 similar to RIKEN cDNA 3110043O21 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis and/or frontotemporal dementia 1
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:26769963, PMID:28492532 NCBI chr 5:50,666,444...50,691,523
Ensembl chr 5:50,668,040...50,684,409
JBrowse link
G Sqstm1 sequestosome 1 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis and/or frontotemporal dementia 1 ClinVar PMID:11941481, PMID:11992264, PMID:12374763, PMID:15125799, PMID:15146436, PMID:15176995, PMID:15493999, PMID:15647816, PMID:15765181, PMID:16691492, PMID:16813535, PMID:17129171, PMID:17229007, PMID:18543015, PMID:18765443, PMID:19257822, PMID:19589897, PMID:20499339, PMID:21195346, PMID:21515589, PMID:21878516, PMID:22084127, PMID:22491873, PMID:22972638, PMID:23303844, PMID:23417734, PMID:23447461, PMID:23612225, PMID:23812289, PMID:23820649, PMID:23942205, PMID:24033266, PMID:24042580, PMID:24486447, PMID:24899140, PMID:25241215, PMID:25382069, PMID:25512523, PMID:25664955, PMID:25708934, PMID:25741868, PMID:25796131, PMID:25852467, PMID:26208961, PMID:26467025, PMID:26627873, PMID:26713335, PMID:26836416, PMID:27275741, PMID:27545679, PMID:27594680, PMID:28430856, PMID:28492532, PMID:28642336, PMID:29457785, PMID:29599744, PMID:29895397, PMID:30154079 NCBI chr10:35,704,728...35,716,316
Ensembl chr10:35,704,730...35,716,294
JBrowse link
frontotemporal dementia and/or amyotrophic lateral sclerosis-2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chchd10 coiled-coil-helix-coiled-coil-helix domain containing 10 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 OMIM
ClinVar
PMID:24934289, PMID:25113787, PMID:25155093, PMID:25193783, PMID:25261972, PMID:25348631, PMID:25576308, PMID:25681414, PMID:25741868, PMID:25833818, PMID:26152333, PMID:28492532, PMID:28585542, PMID:29112723, PMID:29121267, PMID:29315381, PMID:29789341, PMID:30014597 NCBI chr20:13,665,046...13,666,845
Ensembl chr20:13,665,031...13,667,333
JBrowse link
frontotemporal dementia and/or amyotrophic lateral sclerosis-3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sqstm1 sequestosome 1 ISO ClinVar Annotator: match by term: FTDALS3
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 3
ClinVar Annotator: match by OMIM:616437
OMIM
ClinVar
PMID:11992264, PMID:15176995, PMID:15493999, PMID:15647816, PMID:15765181, PMID:16813535, PMID:17229007, PMID:18543015, PMID:18765443, PMID:19257822, PMID:19589897, PMID:20499339, PMID:21195346, PMID:21515589, PMID:21878516, PMID:22084127, PMID:23417734, PMID:23942205, PMID:24033266, PMID:24042580, PMID:24486447, PMID:24899140, PMID:25241215, PMID:25741868, PMID:26627873, PMID:26713335, PMID:27275741, PMID:27594680, PMID:28430856, PMID:28492532, PMID:29457785, PMID:29599744, PMID:30154079 NCBI chr10:35,704,728...35,716,316
Ensembl chr10:35,704,730...35,716,294
JBrowse link
frontotemporal dementia and/or amyotrophic lateral sclerosis-4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kif5a kinesin family member 5A ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ClinVar PMID:25741868 NCBI chr 7:70,515,832...70,552,897
Ensembl chr 7:70,513,343...70,556,827
JBrowse link
G Tbk1 TANK-binding kinase 1 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ClinVar
OMIM
PMID:25700176, PMID:25741868, PMID:25803835, PMID:25943890, PMID:26476236, PMID:26581300, PMID:28008748, PMID:28365590, PMID:28492532, PMID:28822984, PMID:30033073, PMID:30311386 NCBI chr 7:63,655,247...63,687,978
Ensembl chr 7:63,655,247...63,687,978
JBrowse link
intermediate spinal muscular atrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smn1 survival of motor neuron 1, telomeric ISO ClinVar Annotator: match by term: Spinal muscular atrophy, type II OMIM
ClinVar
PMID:9158159, PMID:9590291, PMID:9818944, PMID:9837824, PMID:10205265, PMID:10369311, PMID:11313744, PMID:11704667, PMID:12515823, PMID:14715275, PMID:15580564, PMID:17475491, PMID:17895963, PMID:18492800, PMID:19050931, PMID:20057317, PMID:21118896, PMID:21209906, PMID:21673580, PMID:21920940, PMID:22750651, PMID:22813737, PMID:22975760, PMID:23112048, PMID:24498607, PMID:24844453, PMID:25144193, PMID:25716911, PMID:25741868, PMID:26467025, PMID:27425821 NCBI chr 2:30,360,101...30,371,147
Ensembl chr 2:30,360,100...30,371,147
JBrowse link
Juvenile Amyotrophic Lateral Sclerosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Als2 alsin Rho guanine nucleotide exchange factor ALS2 ISO ClinVar Annotator: match by term: ALS, JUVENILE ClinVar PMID:18852346, PMID:23881933, PMID:25174650, PMID:25588603, PMID:25741868, PMID:26467025, PMID:27159321, PMID:27790088, PMID:28430856, PMID:28492532, PMID:28832565, PMID:30311386 NCBI chr 9:65,961,361...66,034,396
Ensembl chr 9:65,961,346...66,033,871
JBrowse link
G Erlin1 ER lipid raft associated 1 ISO ClinVar Annotator: match by term: Juvenile amyotrophic lateral sclerosis ClinVar PMID:25741868 NCBI chr 1:263,810,439...263,845,762
Ensembl chr 1:263,810,439...263,845,762
JBrowse link
G Fus FUS RNA binding protein ISO ClinVar Annotator: match by term: Juvenile amyotrophic lateral sclerosis ClinVar PMID:19251627, PMID:19450904, PMID:20579074, PMID:20606625, PMID:20668261, PMID:21280085, PMID:21604077, PMID:21881207, PMID:21907581, PMID:21949354, PMID:22980027, PMID:23056579, PMID:23085990, PMID:23881933, PMID:24899262, PMID:25173930, PMID:25625564, PMID:25741868, PMID:26251528, PMID:26467025, PMID:27123482, PMID:28492532 NCBI chr 1:199,412,805...199,426,705
Ensembl chr 1:199,412,834...199,426,702
JBrowse link
G Plekhg5 pleckstrin homology and RhoGEF domain containing G5 ISO ClinVar Annotator: match by term: Juvenile amyotrophic lateral sclerosis ClinVar PMID:25741868 NCBI chr 5:169,244,778...169,288,310
Ensembl chr 5:169,244,778...169,288,309
JBrowse link
G Syne1 spectrin repeat containing nuclear envelope protein 1 ISO ClinVar Annotator: match by term: Juvenile amyotrophic lateral sclerosis ClinVar PMID:25741868 NCBI chr 1:41,608,287...41,763,591
NCBI chr 1:41,844,840...42,086,662
Ensembl chr 1:41,608,418...42,077,535
JBrowse link
G Trpm7 transient receptor potential cation channel, subfamily M, member 7 ISO ClinVar Annotator: match by term: Juvenile amyotrophic lateral sclerosis ClinVar PMID:16051700, PMID:19405049, PMID:25741868 NCBI chr 3:119,258,189...119,347,084
Ensembl chr 3:119,259,467...119,330,345
JBrowse link
G Vrk1 VRK serine/threonine kinase 1 ISO ClinVar Annotator: match by term: Juvenile amyotrophic lateral sclerosis ClinVar PMID:24088041, PMID:25741868, PMID:26583493, PMID:26633545, PMID:28492532 NCBI chr 6:129,835,788...129,902,839
Ensembl chr 6:129,835,919...129,902,793
JBrowse link
juvenile amyotrophic lateral sclerosis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Als2 alsin Rho guanine nucleotide exchange factor ALS2 ISO ClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 2
ClinVar Annotator: match by term: ALS2-Related Spectrum Disorders
ClinVar Annotator: match by term: ALS, JUVENILE
ClinVar Annotator: match by OMIM:205100
OMIM
ClinVar
PMID:1606479, PMID:2328408, PMID:7920663, PMID:11586297, PMID:12145748, PMID:12601111, PMID:16240357, PMID:16321985, PMID:18852346, PMID:23881933, PMID:24315819, PMID:24562058, PMID:25174650, PMID:25558820, PMID:25588603, PMID:25741868, PMID:26257771, PMID:26467025, PMID:27159321, PMID:27790088, PMID:28135719, PMID:28430856, PMID:28492532, PMID:28832565, PMID:30311386, PMID:32214227 NCBI chr 9:65,961,361...66,034,396
Ensembl chr 9:65,961,346...66,033,871
JBrowse link
juvenile amyotrophic lateral sclerosis 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Setx senataxin ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 4
ClinVar Annotator: match by term: NEURONOPATHY, DISTAL HEREDITARY MOTOR, WITH PYRAMIDAL FEATURES
ClinVar Annotator: match by OMIM:602433
OMIM
ClinVar
PMID:9497266, PMID:14770181, PMID:15106121, PMID:15732101, PMID:17096168, PMID:17159128, PMID:18058631, PMID:19141356, PMID:19569000, PMID:19696032, PMID:20540686, PMID:20981092, PMID:21190393, PMID:21438761, PMID:21576111, PMID:22088787, PMID:22995991, PMID:23129421, PMID:23566282, PMID:23881933, PMID:23941260, PMID:24033266, PMID:24105744, PMID:24244371, PMID:24814856, PMID:25025039, PMID:25174650, PMID:25299611, PMID:25353622, PMID:25382069, PMID:25741868, PMID:25802885, PMID:26467025, PMID:26601740, PMID:27013921, PMID:27790088, PMID:28130640, PMID:28492532, PMID:28642336, PMID:28708278, PMID:28709720, PMID:28832565, PMID:29170628, PMID:29411640, PMID:29650794, PMID:30220148, PMID:30311386 NCBI chr 3:7,680,430...7,731,815
Ensembl chr 3:7,686,503...7,730,539
JBrowse link
juvenile amyotrophic lateral sclerosis 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Spg11 SPG11 vesicle trafficking associated, spatacsin ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 5
ClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS 5, JUVENILE
OMIM
ClinVar
PMID:17322883, PMID:17717710, PMID:18067136, PMID:18079167, PMID:18332254, PMID:18835492, PMID:19105190, PMID:19438933, PMID:20110243, PMID:22175763, PMID:22237444, PMID:22696581, PMID:23443022, PMID:24833714, PMID:25326635, PMID:25741868, PMID:26467025, PMID:26556829, PMID:27066562, PMID:27071356, PMID:27217339, PMID:28160950, PMID:28492532, PMID:28554332, PMID:28832565, PMID:29525178, PMID:30363882 NCBI chr 3:113,999,600...114,064,438
Ensembl chr 3:113,999,719...114,065,170
JBrowse link
juvenile spinal muscular atrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smn1 survival of motor neuron 1, telomeric ISO ClinVar Annotator: match by term: Kugelberg-Welander disease ClinVar
OMIM
PMID:9158159, PMID:9590291, PMID:9668169, PMID:9818944, PMID:9837824, PMID:10205265, PMID:10339583, PMID:11313744, PMID:11704667, PMID:12515823, PMID:14715275, PMID:15580564, PMID:17475491, PMID:17635841, PMID:17895963, PMID:18492800, PMID:19050931, PMID:20057317, PMID:21082361, PMID:21118896, PMID:21209906, PMID:21673580, PMID:21920940, PMID:22323744, PMID:22813737, PMID:23022347, PMID:23073312, PMID:23112048, PMID:24844453, PMID:25144193, PMID:25716911, PMID:25741868, PMID:26467025, PMID:27425821 NCBI chr 2:30,360,101...30,371,147
Ensembl chr 2:30,360,100...30,371,147
JBrowse link
Kennedy's disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ar androgen receptor treatment ISO DNA:mutation,repeats:cds:
DNA:repeats:exon
OMIM PMID:2062380, PMID:8469342, PMID:26942099 RGD:734599, RGD:11576241, RGD:11576229 NCBI chr  X:67,656,253...67,828,998
Ensembl chr  X:67,656,253...67,829,026
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
motor neuritis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Peripheral motor neuropathy ClinVar PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 2:187,842,884...187,863,552
Ensembl chr 2:187,842,885...187,863,516
JBrowse link
G Syne1 spectrin repeat containing nuclear envelope protein 1 ISO ClinVar Annotator: match by term: Peripheral motor neuropathy ClinVar PMID:28492532, PMID:30311386 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
neurogenic scapuloperoneal syndrome Kaeser type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Des desmin ISO ClinVar Annotator: match by term: Neurogenic scapuloperoneal syndrome, Kaeser type
ClinVar Annotator: match by term: Scapuloperoneal syndrome, neurogenic, Kaeser type
OMIM
ClinVar
PMID:5828910, PMID:10430757, PMID:10717012, PMID:10905661, PMID:11728149, PMID:12609507, PMID:14326018, PMID:14724127, PMID:15477095, PMID:15800015, PMID:16217025, PMID:16519886, PMID:16828798, PMID:16865695, PMID:17105773, PMID:17221859, PMID:17325244, PMID:17439987, PMID:17626518, PMID:18414213, PMID:18539904, PMID:19181099, PMID:20448486, PMID:20474083, PMID:20718792, PMID:21262226, PMID:21842594, PMID:22215463, PMID:22337857, PMID:23143191, PMID:23168288, PMID:23299917, PMID:23806086, PMID:23861362, PMID:24033266, PMID:24088041, PMID:24503780, PMID:25214167, PMID:25394388, PMID:25736269, PMID:25741868, PMID:25928149, PMID:26272908, PMID:26467025, PMID:27393313, PMID:27532257, PMID:27930701, PMID:28416588, PMID:28492532 NCBI chr 9:82,556,574...82,564,288
Ensembl chr 9:82,556,573...82,564,294
JBrowse link
poliomyelitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pvr PVR cell adhesion molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:3020560, PMID:28446605 NCBI chr 1:80,820,306...80,835,712
Ensembl chr 1:80,820,050...80,835,701
JBrowse link
Primary Lateral Sclerosis Juvenile term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Als2 alsin Rho guanine nucleotide exchange factor ALS2 ISO ClinVar Annotator: match by term: PLS juvenile
ClinVar Annotator: match by term: Juvenile primary lateral sclerosis
ClinVar Annotator: match by OMIM:606353
OMIM
ClinVar
PMID:11586297, PMID:16240357, PMID:19122027, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr 9:65,961,361...66,034,396
Ensembl chr 9:65,961,346...66,033,871
JBrowse link
progressive bulbar palsy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacna1a calcium voltage-gated channel subunit alpha1 A ISO ClinVar Annotator: match by term: Bulbar palsy ClinVar PMID:10371528, PMID:12420090, PMID:20129625, PMID:20396531, PMID:26467025, PMID:28492532, PMID:28566750, PMID:32581362 NCBI chr19:25,453,236...25,749,550
Ensembl chr19:25,526,751...25,749,550
JBrowse link
G Slc52a3 solute carrier family 52 member 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:147,503,266...147,517,935
Ensembl chr 3:147,511,406...147,516,455
JBrowse link
Progressive Encephalopathy with Amyotrophy and Optic Atrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbce tubulin folding cofactor E ISO ClinVar Annotator: match by term: ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY
ClinVar Annotator: match by term: Encephalopathy, progressive, with amyotrophy and optic atrophy
ClinVar
OMIM
PMID:25741868, PMID:27666369 NCBI chr17:53,983,126...54,029,028
Ensembl chr17:53,983,182...54,029,027
JBrowse link
progressive muscular atrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Capn3 calpain 3 ISO ClinVar Annotator: match by term: Progressive spinal muscular atrophy ClinVar PMID:7720071, PMID:9266733, PMID:10330340, PMID:10679950, PMID:14578192, PMID:14981715, PMID:15351423, PMID:15689361, PMID:15725583, PMID:16100770, PMID:16141003, PMID:16650086, PMID:17318636, PMID:20635405, PMID:21204801, PMID:21984748, PMID:25741868, PMID:26467025, PMID:27142102, PMID:28492532, PMID:30311386 NCBI chr 3:112,227,486...112,278,408
Ensembl chr 3:112,228,720...112,278,408
JBrowse link
scapuloperoneal spinal muscular atrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trpv4 transient receptor potential cation channel, subfamily V, member 4 ISO ClinVar Annotator: match by term: Amyotrophy, neurogenic scapuloperoneal, New England type
ClinVar Annotator: match by term: Scapuloperoneal spinal muscular atrophy
ClinVar Annotator: match by term: Scapuloperoneal Form of Spinal Muscular Atrophy
ClinVar Annotator: match by term: Scapuloperoneal Spinal Muscular Atrophy
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:956253, PMID:1520078, PMID:4056805, PMID:8179305, PMID:11891693, PMID:14755468, PMID:15668982, PMID:18587396, PMID:19232556, PMID:19661060, PMID:19666518, PMID:20037586, PMID:20037587, PMID:20037588, PMID:20104247, PMID:20425821, PMID:20460441, PMID:20503319, PMID:20577006, PMID:21115951, PMID:21288981, PMID:21336783, PMID:21454511, PMID:21964574, PMID:22065612, PMID:22419508, PMID:22689196, PMID:22702953, PMID:22791502, PMID:22851605, PMID:24319099, PMID:24575025, PMID:24677493, PMID:24789864, PMID:24963089, PMID:25256292, PMID:25741868, PMID:25900305, PMID:26110311, PMID:26249260, PMID:26392352, PMID:26467025, PMID:26948711, PMID:27330106, PMID:27751652, PMID:28492532, PMID:28898540 NCBI chr12:47,698,915...47,737,902
Ensembl chr12:47,698,947...47,737,902
JBrowse link
spinal muscular atrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aars1 alanyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy ClinVar NCBI chr19:43,193,264...43,215,281
Ensembl chr19:43,193,257...43,215,281
JBrowse link
G Ankrd1 ankyrin repeat domain 1 ISO RGD PMID:14516314 RGD:1578366 NCBI chr 1:254,726,985...254,745,673
Ensembl chr 1:254,726,969...254,735,548
JBrowse link
G Apob apolipoprotein B ISO ClinVar Annotator: match by term: Spinal muscular atrophy ClinVar PMID:30311386 NCBI chr 6:33,176,826...33,216,381
Ensembl chr 6:33,176,778...33,224,997
JBrowse link
G Ar androgen receptor ISO RGD PMID:10400640 RGD:1578680 NCBI chr  X:67,656,253...67,828,998
Ensembl chr  X:67,656,253...67,829,026
JBrowse link
G Bicd2 BICD cargo adaptor 2 ISO ClinVar Annotator: match by term: Spinal muscular atrophy ClinVar PMID:8114789, PMID:22628388, PMID:23664116, PMID:23664119, PMID:23664120, PMID:25497877, PMID:27784775, PMID:28251916, PMID:28492532 NCBI chr17:15,673,649...15,718,035
Ensembl chr17:15,673,650...15,718,035
JBrowse link
G Capn3 calpain 3 ISO ClinVar Annotator: match by term: Progressive spinal muscular atrophy ClinVar PMID:7720071, PMID:9266733, PMID:10330340, PMID:10679950, PMID:14578192, PMID:14981715, PMID:15351423, PMID:15689361, PMID:15725583, PMID:16100770, PMID:16141003, PMID:16650086, PMID:17318636, PMID:20635405, PMID:21204801, PMID:21984748, PMID:25741868, PMID:26467025, PMID:27142102, PMID:28492532, PMID:30311386 NCBI chr 3:112,227,486...112,278,408
Ensembl chr 3:112,228,720...112,278,408
JBrowse link
G Dpp6 dipeptidyl peptidase like 6 susceptibility ISO DNA:SNP:intron: (rs10260404) (human) RGD PMID:19332697 RGD:5687182 NCBI chr 4:4,021,021...4,943,675
Ensembl chr 4:4,021,008...4,473,307
JBrowse link
G Dst dystonin ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy ClinVar PMID:25059916, PMID:28492532 NCBI chr 9:37,902,336...38,296,961
Ensembl chr 9:37,902,303...38,196,273
JBrowse link
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Spinal muscular atrophy
ClinVar Annotator: match by term: Distal spinal muscular atrophy
ClinVar PMID:9781046, PMID:15826937, PMID:16519653, PMID:19074350, PMID:21076407, PMID:21820100, PMID:22368300, PMID:22459677, PMID:22847149, PMID:23603762, PMID:24307404, PMID:25512093, PMID:25609763, PMID:25741868, PMID:26392352, PMID:26395554, PMID:26795593, PMID:28193117, PMID:28263302, PMID:28325891, PMID:28492532, PMID:29243232, PMID:30122514 NCBI chr 6:134,958,854...135,085,769
Ensembl chr 6:134,958,854...135,085,769
JBrowse link
G Etfdh electron transfer flavoprotein dehydrogenase ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy ClinVar NCBI chr 2:178,367,547...178,389,641
Ensembl chr 2:178,367,549...178,389,608
JBrowse link
G Fbln5 fibulin 5 ISO ClinVar Annotator: match by term: Proximal spinal muscular atrophy ClinVar NCBI chr 6:125,644,797...125,723,957
Ensembl chr 6:125,644,804...125,723,944
JBrowse link
G Fbxo38 F-box protein 38 ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy ClinVar PMID:28492532 NCBI chr18:57,827,391...57,874,515
Ensembl chr18:57,827,392...57,866,741
JBrowse link
G Fus FUS RNA binding protein ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy ClinVar NCBI chr 1:199,412,805...199,426,705
Ensembl chr 1:199,412,834...199,426,702
JBrowse link
G Gars glycyl-tRNA synthetase ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy ClinVar PMID:12690580, PMID:16014653, PMID:16534118, PMID:16769947, PMID:17101916, PMID:17595294, PMID:17663003, PMID:19329989, PMID:24604904, PMID:25168514, PMID:25476837, PMID:25614874, PMID:25741868, PMID:26392352, PMID:26467025, PMID:27582484, PMID:27790088, PMID:28160950, PMID:28492532, PMID:28594869, PMID:30311386 NCBI chr 4:85,235,122...85,276,085
Ensembl chr 4:85,235,172...85,276,044
JBrowse link
G Hdac4 histone deacetylase 4 ISO mRNA:increased expression:muscle: RGD PMID:22798624 RGD:9681458 NCBI chr 9:99,052,945...99,299,715
Ensembl chr 9:99,057,089...99,299,715
JBrowse link
G Hexb hexosaminidase subunit beta ISO RGD PMID:1720305 RGD:1599424 NCBI chr 2:27,983,925...28,003,260
Ensembl chr 2:27,984,117...28,003,186
JBrowse link
G Ighmbp2 immunoglobulin mu DNA binding protein 2 ISO ClinVar Annotator: match by term: Spinal muscular atrophy
ClinVar Annotator: match by term: Distal spinal muscular atrophy
ClinVar PMID:14506069, PMID:14681881, PMID:15108294, PMID:15290238, PMID:16765827, PMID:16964485, PMID:17431882, PMID:18802676, PMID:19158098, PMID:21353777, PMID:22157136, PMID:23566544, PMID:24033266, PMID:24388491, PMID:25326635, PMID:25439726, PMID:25568292, PMID:25741868, PMID:26467025, PMID:28065684, PMID:28397221, 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 Litaf lipopolysaccharide-induced TNF factor ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy ClinVar NCBI chr10:4,753,546...4,763,272
Ensembl chr10:4,719,713...4,763,510
JBrowse link
G Mars1 methionyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy ClinVar PMID:28492532 NCBI chr 7:70,585,011...70,602,425
Ensembl chr 7:70,585,013...70,602,310
JBrowse link
G Morc2 MORC family CW-type zinc finger 2 ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy ClinVar PMID:7964809, PMID:12601114, PMID:26497905, PMID:26659848, PMID:26912637, PMID:27105897, PMID:27105987, PMID:27329773, PMID:27794525, PMID:28334961, PMID:28402445, PMID:28492532, PMID:28581500, PMID:28771897 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: Distal spinal muscular atrophy ClinVar NCBI chr15:44,799,378...44,803,251
Ensembl chr15:44,799,334...44,804,574
JBrowse link
G Pecam1 platelet and endothelial cell adhesion molecule 1 ISO protein:decreased expression:levator auris longus, transversus abdominis (mouse) RGD PMID:22153987 RGD:6767297 NCBI chr10:94,850,971...94,913,202 JBrowse link
G Pkn3 protein kinase N3 ISO ClinVar Annotator: match by term: Spinal muscular atrophy ClinVar PMID:30311386 NCBI chr 3:8,628,033...8,656,464
Ensembl chr 3:8,628,033...8,659,117
JBrowse link
G Plekhg5 pleckstrin homology and RhoGEF domain containing G5 ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy ClinVar PMID:28492532 NCBI chr 5:169,244,778...169,288,310
Ensembl chr 5:169,244,778...169,288,309
JBrowse link
G Pmp22 peripheral myelin protein 22 ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy ClinVar PMID:28492532 NCBI chr10:49,538,588...49,568,583
Ensembl chr10:49,538,588...49,568,583
JBrowse link
G Prx periaxin ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy ClinVar NCBI chr 1:84,302,074...84,324,560
Ensembl chr 1:84,304,228...84,324,560
JBrowse link
G Setx senataxin ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy ClinVar PMID:9497266, PMID:15106121, PMID:21438761, PMID:21576111, PMID:22088787, PMID:24105744, PMID:24244371, PMID:28492532 NCBI chr 3:7,680,430...7,731,815
Ensembl chr 3:7,686,503...7,730,539
JBrowse link
G Sh3tc2 SH3 domain and tetratricopeptide repeats 2 ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy ClinVar PMID:20220177, PMID:27068304, PMID:28492532 NCBI chr18:57,286,266...57,403,926
Ensembl chr18:57,286,322...57,347,577
JBrowse link
G Slc5a7 solute carrier family 5 member 7 ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy ClinVar PMID:28492532 NCBI chr 9:5,294,377...5,330,822
Ensembl chr 9:5,294,381...5,330,815
JBrowse link
G Smn1 survival of motor neuron 1, telomeric ISO DNA:mutations:multiple (human)
ClinVar Annotator: match by term: Spinal muscular atrophy
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:10679938, PMID:11839954, PMID:12833158, PMID:15862279, PMID:18155522, PMID:18572081, PMID:19050931, PMID:19150990, PMID:20442745, PMID:21350916, PMID:21542063, PMID:21673580, PMID:21819082, PMID:25572663, PMID:25741868, PMID:26467025, PMID:26606804, PMID:27111068, PMID:28492532, PMID:30006696, PMID:7813012 RGD:9831153 NCBI chr 2:30,360,101...30,371,147
Ensembl chr 2:30,360,100...30,371,147
JBrowse link
G Tdrkh tudor and KH domain containing ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy ClinVar NCBI chr 2:195,649,813...195,674,217
Ensembl chr 2:195,651,930...195,674,616
JBrowse link
G Tll2 tolloid-like 2 ISO ClinVar Annotator: match by term: Spinal muscular atrophy ClinVar PMID:25741868 NCBI chr 1:260,348,905...260,460,791
Ensembl chr 1:260,348,905...260,460,791
JBrowse link
G Tnfrsf25 TNF receptor superfamily member 25 ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy ClinVar NCBI chr 5:169,288,419...169,293,137
Ensembl chr 5:169,288,871...169,293,137
JBrowse link
G Trpv4 transient receptor potential cation channel, subfamily V, member 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Distal spinal muscular atrophy
CTD
ClinVar
PMID:20037586, PMID:20037587, PMID:20037588, PMID:20460441, PMID:21336783, PMID:22187434, PMID:22702953, PMID:24575025, PMID:24789864, PMID:24963089, PMID:25741868, PMID:25900305, PMID:26110311, PMID:26467025, PMID:26948711, PMID:27751652, PMID:28492532 NCBI chr12:47,698,915...47,737,902
Ensembl chr12:47,698,947...47,737,902
JBrowse link
G Vapb VAMP associated protein B and C onset ISO DNA:missense mutation:cds:p.P56S (human)
ClinVar Annotator: match by term: Spinal Muscular Atrophy, Dominant
ClinVar 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 Vrk1 VRK serine/threonine kinase 1 ISO ClinVar Annotator: match by term: Distal spinal muscular atrophy
ClinVar Annotator: match by term: Spinal muscular atrophy
ClinVar PMID:19646678, PMID:24126608, PMID:25356970, PMID:25741868, PMID:27281532, PMID:28492532 NCBI chr 6:129,835,788...129,902,839
Ensembl chr 6:129,835,919...129,902,793
JBrowse link
Spinal Muscular Atrophy with Congenital Bone Fractures 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trip4 thyroid hormone receptor interactor 4 ISO ClinVar Annotator: match by term: SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 1
ClinVar Annotator: match by term: Spinal muscular atrophy with congenital bone fractures 1
ClinVar
OMIM
PMID:25741868, PMID:26924529 NCBI chr 8:71,369,121...71,533,281
Ensembl chr 8:71,371,370...71,533,459
JBrowse link
Spinal Muscular Atrophy with Congenital Bone Fractures 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ascc1 activating signal cointegrator 1 complex subunit 1 ISO ClinVar Annotator: match by term: Spinal muscular atrophy with congenital bone fractures 2 OMIM
ClinVar
PMID:21791690, PMID:25741868, PMID:26924529, PMID:28218388, PMID:28492532, PMID:28749478, PMID:30327447, PMID:31680123, PMID:31880396 NCBI chr20:29,558,330...29,648,899
Ensembl chr20:29,558,689...29,648,893
JBrowse link
spinal muscular atrophy with lower extremity predominance 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Spinal muscular atrophy, lower extremity predominant 1, autosomal dominant OMIM
ClinVar
PMID:9781046, PMID:12730604, PMID:15826937, PMID:16519653, PMID:19074350, PMID:20697106, PMID:21076407, PMID:21102439, PMID:21820100, PMID:22368300, PMID:22459677, PMID:22847149, PMID:23603762, PMID:24307404, PMID:25326635, PMID:25484024, PMID:25497877, PMID:25512093, PMID:25609763, PMID:25741868, PMID:26395554, PMID:26795593, PMID:26846447, PMID:27549087, PMID:28193117, PMID:28263302, PMID:28325891, PMID:28492532, PMID:28554554, PMID:29243232, PMID:30311386 NCBI chr 6:134,958,854...135,085,769
Ensembl chr 6:134,958,854...135,085,769
JBrowse link
spinal muscular atrophy with lower extremity predominance 2A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bicd2 BICD cargo adaptor 2 ISO ClinVar Annotator: match by term: Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant
ClinVar Annotator: match by term: Spinal muscular atrophy, lower extremity-predominant, 2, AD
ClinVar Annotator: match by term: Spinal muscular atrophy, lower extremity predominant 2, autosomal dominant
ClinVar Annotator: match by OMIM:615290
OMIM
ClinVar
PMID:2778477, PMID:8114789, PMID:9713859, PMID:22628388, PMID:23664116, PMID:23664119, PMID:23664120, PMID:24336790, PMID:24482476, PMID:25326635, PMID:25497877, PMID:25741868, PMID:25802885, PMID:26467025, PMID:26752647, PMID:26998597, PMID:27549087, PMID:27751653, PMID:27784775, PMID:28251916, PMID:28492532, PMID:28635954, PMID:28832565, PMID:29273277, PMID:30311386, PMID:30373780, PMID:32581362 NCBI chr17:15,673,649...15,718,035
Ensembl chr17:15,673,650...15,718,035
JBrowse link
spinal muscular atrophy with lower extremity predominante 2B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bicd2 BICD cargo adaptor 2 ISO ClinVar Annotator: match by term: SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2B, PRENATAL ONSET, AUTOSOMAL DOMINANT
ClinVar Annotator: match by term: Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant
ClinVar
OMIM
PMID:25741868, PMID:27751653, PMID:28635954, PMID:30054298 NCBI chr17:15,673,649...15,718,035
Ensembl chr17:15,673,650...15,718,035
JBrowse link
G Mt-nd6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 ISO DNA:missense mutation: :m.14459G>A (p.A72V) (human) RGD PMID:8016139 RGD:8657128 NCBI chr MT:13,543...14,061
Ensembl chr MT:13,543...14,061