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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:Proteostasis Deficiencies
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Accession:DOID:9000842 term browser browse the term
Definition:Disorders caused by imbalances in the protein homeostasis network - synthesis, folding, and transport of proteins; post-translational modifications; and degradation or clearance of misfolded proteins.
Synonyms:exact_synonym: Protein Folding Disease;   Protein Folding Disorder;   Protein Folding Disorders;   Protein Misfolding Disease;   Protein Misfolding Diseases;   Protein Misfolding Disorder;   Protein Misfolding Disorders;   Proteostasis Deficiency;   Proteostasis Dysfunction;   protein folding diseases;   proteostasis dysfunctions
 primary_id: MESH:D057165



show annotations for term's descendants           Sort by:
Proteostasis Deficiencies term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ngly1 N-glycanase 1 IMP RGD PMID:32259258 RGD:39457703 NCBI chr15:9,153,738...9,210,228
Ensembl chr15:9,153,738...9,204,630
JBrowse link
Amyloid Angiopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G App amyloid beta precursor protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:31939705 NCBI chr11:24,019,774...24,236,584
Ensembl chr11:24,019,778...24,236,561
JBrowse link
Amyloid Neuropathies term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G App amyloid beta precursor protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:27567873 NCBI chr11:24,019,774...24,236,584
Ensembl chr11:24,019,778...24,236,561
JBrowse link
G Dusp1 dual specificity phosphatase 1 ISO mRNA, protein:decreased expression:salivary gland, nerve RGD PMID:16515552 RGD:7771547 NCBI chr10:16,680,478...16,683,275 JBrowse link
G Psen1 presenilin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27567873 NCBI chr 6:103,323,052...103,375,088
Ensembl chr 6:103,323,120...103,371,650
JBrowse link
G Ttr transthyretin ISO RGD PMID:15793844 RGD:1580527 NCBI chr18:11,941,791...11,951,008
Ensembl chr18:11,943,789...11,951,008
JBrowse link
amyloidosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ache acetylcholinesterase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23047022 NCBI chr12:19,406,133...19,413,713
Ensembl chr12:19,407,360...19,413,651
JBrowse link
G Adipoq adiponectin, C1Q and collagen domain containing ISO associated with Periodic fever, familial, autosomal dominant;protein:increased expression:serum RGD PMID:22935190 RGD:8694455 NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564
JBrowse link
G Akap9 A-kinase anchoring protein 9 ISO ClinVar Annotator: match by term: Amyloidosis ClinVar PMID:23861362 PMID:25741868 PMID:28492532 NCBI chr 4:30,056,738...30,192,716
Ensembl chr 4:30,056,738...30,192,606
JBrowse link
G Apcs amyloid P component, serum ISO RGD PMID:12015594 RGD:1300286 NCBI chr13:85,373,219...85,374,195
Ensembl chr13:85,373,220...85,374,298
JBrowse link
G Apoe apolipoprotein E ISO CTD Direct Evidence: marker/mechanism CTD PMID:15993987 NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
JBrowse link
G App amyloid beta precursor protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:23541064 NCBI chr11:24,019,774...24,236,584
Ensembl chr11:24,019,778...24,236,561
JBrowse link
G Cacna1c calcium voltage-gated channel subunit alpha1 C ISO ClinVar Annotator: match by term: Amyloidosis ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:151,764,138...152,379,454
Ensembl chr 4:151,764,138...152,379,648
JBrowse link
G Csf1 colony stimulating factor 1 ISO associated with Kidney Failure, Chronic RGD PMID:12038073 RGD:7257581 NCBI chr 2:195,377,215...195,396,608
Ensembl chr 2:195,377,215...195,411,704
JBrowse link
G Dsp desmoplakin ISO ClinVar Annotator: match by term: Amyloidosis ClinVar PMID:24033266 PMID:24825141 PMID:25741868 PMID:28492532 PMID:33232181 More... NCBI chr17:26,623,602...26,671,692
Ensembl chr17:26,623,588...26,671,800
JBrowse link
G Got1 glutamic-oxaloacetic transaminase 1 treatment ISO human protein in a rat model RGD PMID:28390893 RGD:13504835 NCBI chr 1:242,357,293...242,381,535
Ensembl chr 1:242,357,306...242,380,633
JBrowse link
G Gsn gelsolin ISO ClinVar Annotator: match by term: Amyloidosis ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:18,585,166...18,638,404
Ensembl chr 3:18,585,172...18,638,402
JBrowse link
G Psen1 presenilin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23541064 NCBI chr 6:103,323,052...103,375,088
Ensembl chr 6:103,323,120...103,371,650
JBrowse link
G Rapgef3 Rap guanine nucleotide exchange factor 3 ISO protein:increased expression:heart (mouse) RGD PMID:24721545 RGD:9835365 NCBI chr 7:128,875,772...128,898,203
Ensembl chr 7:128,875,773...128,898,521
JBrowse link
G Serpine1 serpin family E member 1 susceptibility ISO associated with Familial Mediterranean Fever;DNA: DNA:polymorphism:promoter:rs1799768 (human): RGD PMID:23052617 RGD:13207414 NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
JBrowse link
G Tmpo thymopoietin ISO ClinVar Annotator: match by term: Amyloidosis ClinVar PMID:23861362 PMID:24375709 PMID:24448499 PMID:25741868 PMID:28074886 More... NCBI chr 7:25,642,752...25,667,756
Ensembl chr 7:25,586,725...25,667,727
JBrowse link
G Tnf tumor necrosis factor ISO associated with Arthritis, Rheumatoid RGD PMID:14613268 RGD:10450570 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A ISO associated with Arthritis, Rheumatoid RGD PMID:14613268 RGD:10450570 NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591
JBrowse link
G Trem1 triggering receptor expressed on myeloid cells 1 ISO associated with familial Mediterranean fever;protein:increased expression:serum: RGD PMID:31474164 RGD:127229901 NCBI chr 9:12,763,819...12,779,285
Ensembl chr 9:12,763,819...12,779,203
JBrowse link
G Ttr transthyretin ISO ClinVar Annotator: match by term: Amyloidosis
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:9818054 PMID:10071047 PMID:15820680 PMID:20209591 PMID:25488473 More... RGD:1580528 NCBI chr18:11,941,791...11,951,008
Ensembl chr18:11,943,789...11,951,008
JBrowse link
G Zdhhc13 zinc finger DHHC-type palmitoyltransferase 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20548961 NCBI chr 1:98,487,319...98,525,906
Ensembl chr 1:98,487,358...98,525,905
JBrowse link
amyotrophic lateral sclerosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca7 ATP binding cassette subfamily A member 7 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 NCBI chr 7:9,691,452...9,711,466
Ensembl chr 7:9,691,449...9,711,425
JBrowse link
G Actl6b actin-like 6B ISO CTD Direct Evidence: marker/mechanism CTD PMID:28973294 NCBI chr12:19,124,887...19,141,419
Ensembl chr12:19,124,916...19,141,376
JBrowse link
G Adarb1 adenosine deaminase, RNA-specific, B1 ISO
ISS
mRNA:decreased expression:motor neuron: MouseDO
RGD
PMID:20372915 PMID:22226999 RGD:10755336, RGD:13432092 NCBI chr20:11,222,569...11,350,854
Ensembl chr20:11,222,583...11,350,852
JBrowse link
G Akt1 AKT serine/threonine kinase 1 ISO protein:increased expression:skeletal muscle RGD PMID:18273716 RGD:5509081 NCBI chr 6:131,713,716...131,735,319
Ensembl chr 6:131,713,720...131,733,921
JBrowse link
G Als2 alsin Rho guanine nucleotide exchange factor ALS2 susceptibility ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis | ClinVar Annotator: match by term: Charcot disease ClinVar
RGD
PMID:11586298 PMID:16199547 PMID:24315819 PMID:25741868 PMID:28492532 More... RGD:1599080 NCBI chr 9:60,613,182...60,686,394
Ensembl chr 9:60,613,167...60,670,737
JBrowse link
G Ang angiogenin no_association ISO DNA:mutations:multiple
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis
DNA:missense mutations
DNA:missense mutation, SNPs: :p.I46V, rs11701, rs2228653 (human)
protein:increased expression:cerebrospinal fluid
ClinVar
RGD
PMID:25741868 PMID:22190368 PMID:16501576 PMID:17462671 PMID:19177252 RGD:6892707, RGD:6892718, RGD:6892716, RGD:6892713 NCBI chr15:24,312,711...24,323,361 JBrowse link
G Anxa11 annexin A11 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28469040 PMID:28492532 More... NCBI chr16:1,412,373...1,457,814
Ensembl chr16:1,410,756...1,457,797
JBrowse link
G Aox1 aldehyde oxidase 1 ISO RGD PMID:7570184 RGD:734575 NCBI chr 9:59,579,621...59,658,772
Ensembl chr 9:59,579,649...59,658,770
JBrowse link
G Apoe apolipoprotein E severity ISO DNA:missense mutations, haplotypes:cds:p.C112R, p.R158C (human) RGD PMID:8899655 RGD:12880359 NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
JBrowse link
G Aqp4 aquaporin 4 IEP mRNA, protein:increased expression:spinal cord
protein:increased expression:brainstem
RGD PMID:19089902 PMID:22987392 RGD:5490153, RGD:8662893 NCBI chr18:6,507,903...6,524,558
Ensembl chr18:6,507,903...6,524,856
JBrowse link
G Atg5 autophagy related 5 ISO mRNA:increased expression:spinal cord RGD PMID:23851366 RGD:11561951 NCBI chr20:47,798,217...47,889,216
Ensembl chr20:47,798,290...47,889,209
JBrowse link
G Atox1 antioxidant 1 copper chaperone disease_progression ISO protein:increased expression:spinal chord RGD PMID:19656261 RGD:13524567 NCBI chr10:39,564,855...39,579,892
Ensembl chr10:39,564,857...39,579,950
JBrowse link
G Atxn2 ataxin 2 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:25741868 PMID:27377857 PMID:28478440 NCBI chr12:34,754,132...34,851,175
Ensembl chr12:34,754,137...34,851,479
JBrowse link
G Bad BCL2-associated agonist of cell death disease_progression ISO RGD PMID:10582606 RGD:13506907 NCBI chr 1:204,133,502...204,142,829
Ensembl chr 1:204,131,501...204,142,823
JBrowse link
G Bak1 BCL2-antagonist/killer 1 treatment ISO RGD PMID:20890041 RGD:13506803 NCBI chr20:5,100,480...5,109,669
Ensembl chr20:5,100,480...5,109,264
JBrowse link
G Bax BCL2 associated X, apoptosis regulator treatment
disease_progression
severity
ISO RGD PMID:24699224 PMID:10582606 PMID:20195368 PMID:20890041 PMID:21193837 RGD:13506797, RGD:13506907, RGD:13506805, RGD:13506803, RGD:13506800 NCBI chr 1:95,940,001...95,945,407
Ensembl chr 1:95,938,808...95,945,368
JBrowse link
G Bcl2 BCL2, apoptosis regulator disease_progression ISO RGD PMID:10582606 RGD:13506907 NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743
Ensembl chr13:22,684,989...22,853,743
JBrowse link
G Bcl2l1 Bcl2-like 1 treatment
disease_progression
IMP
ISO
RGD PMID:18543336 PMID:10582606 RGD:13506902, RGD:13506907 NCBI chr 3:141,253,508...141,304,582
Ensembl chr 3:141,253,523...141,303,479
JBrowse link
G Becn1 beclin 1 ISO mRNA:increased expression:spinal cord RGD PMID:23851366 RGD:11561951 NCBI chr10:86,231,387...86,246,742
Ensembl chr10:86,231,388...86,246,742
JBrowse link
G Bid BH3 interacting domain death agonist ISO RGD PMID:29440992 RGD:13506949 NCBI chr 4:154,113,198...154,136,353
Ensembl chr 4:154,113,198...154,134,720
JBrowse link
G Bnip3l BCL2 interacting protein 3 like ISO RGD PMID:29440992 RGD:13506949 NCBI chr15:41,174,594...41,197,730
Ensembl chr15:41,174,594...41,197,803
JBrowse link
G Bptf bromodomain PHD finger transcription factor ISO mRNA,protein:increased expression:spinal cord: RGD PMID:9225734 RGD:9586057 NCBI chr10:91,980,279...92,082,731
Ensembl chr10:91,982,758...92,082,769
JBrowse link
G C3 complement C3 IEP RGD PMID:19050293 RGD:5130169 NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429
JBrowse link
G C5ar1 complement C5a receptor 1 IMP RGD PMID:19050293 RGD:5130169 NCBI chr 1:76,948,622...76,959,826 JBrowse link
G Cacna1a calcium voltage-gated channel subunit alpha1 A ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 NCBI chr19:23,520,741...23,819,971
Ensembl chr19:23,520,741...23,823,225
JBrowse link
G Calca calcitonin-related polypeptide alpha ISO RGD PMID:21964254 RGD:5684010 NCBI chr 1:168,878,212...168,883,176
Ensembl chr 1:168,878,214...168,883,105
JBrowse link
G Camk1g calcium/calmodulin-dependent protein kinase IG ISO CTD Direct Evidence: marker/mechanism CTD PMID:23624525 NCBI chr13:104,877,909...104,901,658
Ensembl chr13:104,877,910...104,901,556
JBrowse link
G Casp12 caspase 12 IEP protein:increased activity:spinal cord RGD PMID:16847061 RGD:2311466 NCBI chr 8:2,642,296...2,669,549
Ensembl chr 8:2,642,434...2,674,037
JBrowse link
G Casp3 caspase 3 IEP protein:increased activity:spinal cord RGD PMID:16847061 RGD:2311466 NCBI chr16:45,662,910...45,681,171
Ensembl chr16:45,662,910...45,684,648
JBrowse link
G Casp9 caspase 9 IEP protein:increased activity:spinal cord RGD PMID:16847061 RGD:2311466 NCBI chr 5:154,108,872...154,126,628
Ensembl chr 5:154,109,046...154,126,626
JBrowse link
G Ccnf cyclin F ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 NCBI chr10:13,253,073...13,279,140
Ensembl chr10:13,253,380...13,279,101
JBrowse link
G Ccr2 C-C motif chemokine receptor 2 disease_progression ISO protein:increased expression:plasma:
protein:decreased expression:monocyte:
RGD PMID:16857270 PMID:16857270 RGD:8657363, RGD:8657363 NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100
JBrowse link
G Ccs copper chaperone for superoxide dismutase treatment ISO RGD PMID:26826269 RGD:13524551 NCBI chr 1:202,113,792...202,134,931
Ensembl chr 1:202,113,804...202,134,915
JBrowse link
G Cd40lg CD40 ligand ISO CTD Direct Evidence: therapeutic CTD
RGD
PMID:20348957 PMID:20348957 RGD:5490547 NCBI chr  X:135,127,052...135,138,768
Ensembl chr  X:135,126,969...135,138,306
JBrowse link
G Cdk5 cyclin-dependent kinase 5 ISO RGD PMID:11343650 RGD:734741 NCBI chr 4:10,754,682...10,760,110
Ensembl chr 4:10,754,687...10,760,112
JBrowse link
G Cfap410 cilia and flagella associated protein 410 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis
CTD
ClinVar
PMID:25741868 PMID:27455348 NCBI chr20:10,687,863...10,694,736
Ensembl chr20:10,687,863...10,694,737
JBrowse link
G Chchd10 coiled-coil-helix-coiled-coil-helix domain containing 10 ISO ClinVar Annotator: match by term: Charcot disease ClinVar PMID:25576308 PMID:25741868 PMID:28492532 PMID:29540477 PMID:30014597 More... NCBI chr20:12,725,839...12,727,638
Ensembl chr20:12,725,842...12,732,763
JBrowse link
G Chmp2b charged multivesicular body protein 2B ISO DNA:mutations:cds:Q206H, I29V (human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:16807408 PMID:16807408 RGD:5688711 NCBI chr11:3,337,478...3,364,015
Ensembl chr11:3,337,494...3,385,181
JBrowse link
G Chrna3 cholinergic receptor nicotinic alpha 3 subunit ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 NCBI chr 8:55,401,668...55,415,165
Ensembl chr 8:55,401,702...55,415,165
JBrowse link
G Chrna4 cholinergic receptor nicotinic alpha 4 subunit ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 PMID:28492532 PMID:29454195 PMID:31628766 NCBI chr 3:168,136,246...168,157,839
Ensembl chr 3:168,136,266...168,156,957
JBrowse link
G Chrnb4 cholinergic receptor nicotinic beta 4 subunit ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 NCBI chr 8:55,417,583...55,437,027
Ensembl chr 8:55,418,313...55,437,027
JBrowse link
G Cntf ciliary neurotrophic factor susceptibility ISO RGD PMID:11951178 RGD:734796 NCBI chr 1:209,887,854...209,889,877
Ensembl chr 1:209,887,854...209,889,877
JBrowse link
G Ctsh cathepsin H ISO mRNA, protein:increased expression:spinal cord RGD PMID:17583678 RGD:5686391 NCBI chr 8:90,608,941...90,627,824
Ensembl chr 8:90,608,941...90,627,824
JBrowse link
G Dao D-amino-acid oxidase ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis | ClinVar Annotator: match by term: Charcot disease ClinVar PMID:25741868 NCBI chr12:42,592,342...42,613,046
Ensembl chr12:42,592,343...42,612,741
JBrowse link
G Dbr1 debranching RNA lariats 1 ISO CTD Direct Evidence: therapeutic CTD PMID:23104007 NCBI chr 8:100,139,039...100,150,768
Ensembl chr 8:100,139,034...100,151,030
JBrowse link
G Dctn1 dynactin subunit 1 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis, susceptibility to | ClinVar Annotator: match by term: Charcot disease ClinVar PMID:15326253 PMID:16240349 PMID:17824900 PMID:18812314 PMID:19506225 More... NCBI chr 4:115,671,024...115,703,824
Ensembl chr 4:115,661,638...115,703,815
JBrowse link
G Ddx20 DEAD-box helicase 20 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 NCBI chr 2:193,158,761...193,168,484
Ensembl chr 2:193,158,823...193,166,774
JBrowse link
G Dnajc7 DnaJ heat shock protein family (Hsp40) member C7 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 NCBI chr10:85,518,637...85,555,079
Ensembl chr10:85,518,621...85,555,575
JBrowse link
G Dnmt3a DNA methyltransferase 3 alpha ISO protein:decreased expression:mitochondrion: RGD PMID:24399935 RGD:9589066 NCBI chr 6:26,791,517...26,902,161
Ensembl chr 6:26,822,609...26,896,687
JBrowse link
G Dpp6 dipeptidyl peptidase like 6 no_association ISO DNA:SNP:intron:rs10260404 (human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:18084291 PMID:18708572 PMID:20137488 RGD:5687188, RGD:5687181 NCBI chr 4:7,589,386...8,508,666
Ensembl chr 4:7,591,009...8,508,532
JBrowse link
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar NCBI chr 6:129,615,208...129,680,888
Ensembl chr 6:129,609,397...129,680,883
JBrowse link
G Eif2ak2 eukaryotic translation initiation factor 2-alpha kinase 2 ISO protein:increased expression:spinal cord RGD PMID:12675919 RGD:2301741 NCBI chr 6:16,189,000...16,224,972
Ensembl chr 6:16,188,979...16,224,971
JBrowse link
G Elp3 elongator acetyltransferase complex subunit 3 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 NCBI chr15:39,754,635...39,816,482
Ensembl chr15:39,754,632...39,816,445
JBrowse link
G Epg5 ectopic P-granules 5 autophagy tethering factor ISS MouseDO NCBI chr18:71,403,990...71,502,079
Ensembl chr18:71,404,010...71,501,502
JBrowse link
G Epo erythropoietin disease_progression ISO protein:decreased expression:cerebrospinal fluid RGD PMID:17368721 RGD:10395391 NCBI chr12:19,204,258...19,207,948
Ensembl chr12:19,204,508...19,207,946
JBrowse link
G Erbb4 erb-b2 receptor tyrosine kinase 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis
CTD
ClinVar
PMID:25741868 PMID:28492532 PMID:29895397 PMID:32065797 NCBI chr 9:69,523,733...70,596,743
Ensembl chr 9:69,531,481...70,596,595
JBrowse link
G Ercc6l2 ERCC excision repair 6 like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30879219 NCBI chr17:1,076,486...1,311,281
Ensembl chr17:1,216,428...1,310,275
JBrowse link
G Esrra estrogen related receptor, alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:22975021 NCBI chr 1:204,104,100...204,114,182
Ensembl chr 1:204,104,101...204,114,268
JBrowse link
G Ewsr1 EWS RNA-binding protein 1 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 NCBI chr14:79,965,365...79,994,108
Ensembl chr14:79,965,368...79,994,544
JBrowse link
G Fig4 FIG4 phosphoinositide 5-phosphatase ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis | ClinVar Annotator: match by term: Charcot disease ClinVar PMID:2319578 PMID:7496176 PMID:9536098 PMID:17572665 PMID:17576681 More... NCBI chr20:44,600,603...44,724,047
Ensembl chr20:44,600,603...44,723,844
JBrowse link
G Fus Fus RNA binding protein ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:28478440 PMID:29419416 PMID:29434138 PMID:30455313 PMID:22055719 More... RGD:5509900, RGD:9685710 NCBI chr 1:182,576,479...182,590,417
Ensembl chr 1:182,576,545...182,590,414
JBrowse link
G Gdnf glial cell derived neurotrophic factor ISO mRNA:increased expression:skeletal muscle RGD PMID:10447463 RGD:6218978 NCBI chr 2:56,894,022...56,919,935
Ensembl chr 2:56,895,010...56,917,209
JBrowse link
G Gfap glial fibrillary acidic protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:11723166 NCBI chr10:87,852,891...87,861,631
Ensembl chr10:87,852,890...87,861,589
JBrowse link
G Gjc2 gap junction protein, gamma 2 ISO protein:decreased expression:lumbar spinal cord ventral horn, oligodendrocyte (mouse) RGD PMID:24597481 RGD:13208591 NCBI chr10:43,962,642...43,971,358
Ensembl chr10:43,962,642...43,970,467
JBrowse link
G Gle1 GLE1 RNA export mediator ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis | ClinVar Annotator: match by term: Charcot disease ClinVar PMID:25741868 PMID:28884921 NCBI chr 3:13,209,312...13,237,018
Ensembl chr 3:13,209,322...13,237,379
JBrowse link
G Glt8d1 glycosyltransferase 8 domain containing 1 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 NCBI chr16:6,192,269...6,207,227
Ensembl chr16:6,192,300...6,207,229
JBrowse link
G Got1 glutamic-oxaloacetic transaminase 1 treatment ISO human protein in a rat model RGD PMID:26113413 RGD:13506239 NCBI chr 1:242,357,293...242,381,535
Ensembl chr 1:242,357,306...242,380,633
JBrowse link
G Grn granulin precursor disease_progression
onset
ISO protein:increased expression:spinal cord, microglia
DNA:mutations: :
RGD PMID:21107132 PMID:18184915 PMID:21107132 RGD:5509593, RGD:5509619, RGD:5509593 NCBI chr10:87,387,672...87,393,777
Ensembl chr10:87,387,638...87,393,775
JBrowse link
G Gsk3a glycogen synthase kinase 3 alpha ISO RGD PMID:12675919 RGD:2301741 NCBI chr 1:80,815,843...80,825,732
Ensembl chr 1:80,815,850...80,825,802
JBrowse link
G Gsk3b glycogen synthase kinase 3 beta ISO RGD PMID:12675919 RGD:2301741 NCBI chr11:62,498,997...62,648,665
Ensembl chr11:62,504,316...62,648,646
JBrowse link
G Gsr glutathione-disulfide reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16681429 NCBI chr16:58,482,209...58,525,256
Ensembl chr16:58,482,505...58,525,661
JBrowse link
G Gstp1 glutathione S-transferase pi 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16109392 NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226
JBrowse link
G Hdac4 histone deacetylase 4 severity ISO RGD PMID:23824486 RGD:9681450 NCBI chr 9:92,503,467...92,750,164
Ensembl chr 9:92,507,611...92,750,164
JBrowse link
G Hes1 hes family bHLH transcription factor 1 ISO protein:increased expression:spinal chord RGD PMID:26067594 RGD:13524575 NCBI chr11:70,705,763...70,708,176
Ensembl chr11:70,705,764...70,708,192
JBrowse link
G Hey1 hes-related family bHLH transcription factor with YRPW motif 1 ISO protein:increased expression:spinal chord RGD PMID:26067594 RGD:13524575 NCBI chr 2:93,096,605...93,100,316
Ensembl chr 2:93,095,498...93,100,312
JBrowse link
G Hmgb1 high mobility group box 1 severity ISO RGD PMID:23639787 RGD:10402056 NCBI chr12:5,972,950...5,979,658
Ensembl chr12:5,901,586...5,978,565
Ensembl chr16:5,901,586...5,978,565
JBrowse link
G Hnrnpk heterogeneous nuclear ribonucleoprotein K ISO protein:decreased expression:lumbar spinal cord ventral horn, astrocyte (mouse) RGD PMID:19323997 RGD:10058964 NCBI chr17:6,262,936...6,275,001
Ensembl chr17:6,262,998...6,274,997
JBrowse link
G Hrk harakiri, BCL2 interacting protein ISO RGD PMID:29440992 RGD:13506949 NCBI chr12:38,387,484...38,409,652 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 1:121,549,831...121,838,548
Ensembl chr 1:121,550,743...121,831,777
JBrowse link
G Igf2r insulin-like growth factor 2 receptor IEP protein:increased expression:spinal cord, astrocyte RGD PMID:18441505 RGD:2311519 NCBI chr 1:47,979,109...48,067,501
Ensembl chr 1:47,979,109...48,067,501
JBrowse link
G Itih4 inter-alpha-trypsin inhibitor heavy chain 4 disease_progression IEP
ISO
protein:increased expression, increased processing:serum
protein:increased processing:serum
RGD PMID:23436019 PMID:23436019 RGD:40907060, RGD:40907060 NCBI chr16:6,080,539...6,095,710
Ensembl chr16:6,080,539...6,095,708
JBrowse link
G Itpr2 inositol 1,4,5-trisphosphate receptor, type 2 susceptibility ISO DNA:snp:intron:g.26636386A>G rs2306677 (human) RGD PMID:17827064 RGD:6482791 NCBI chr 4:179,028,594...179,434,657
Ensembl chr 4:179,027,281...179,404,164
JBrowse link
G Jag1 jagged canonical Notch ligand 1 ISO protein:increased expression:spinal chord RGD PMID:26067594 RGD:13524575 NCBI chr 3:124,406,783...124,442,220
Ensembl chr 3:124,406,794...124,442,209
JBrowse link
G Kank1 KN motif and ankyrin repeat domains 1 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:222,877,962...223,074,514
Ensembl chr 1:222,877,622...223,074,514
JBrowse link
G Kcnj10 potassium inwardly-rectifying channel, subfamily J, member 10 IEP protein:decreased expression:brainstem RGD PMID:22987392 RGD:8662893 NCBI chr13:84,802,026...84,835,383
Ensembl chr13:84,802,009...84,835,461
JBrowse link
G Kdr kinase insert domain receptor ISO protein:decreased expression:spinal cord RGD PMID:16410746 RGD:1580568 NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018
JBrowse link
G Keap1 Kelch-like ECH-associated protein 1 ISO mRNA:increased expression:primary motor cortex (human) RGD PMID:18957896 RGD:6893397 NCBI chr 8:19,768,375...19,777,862
Ensembl chr 8:19,768,375...19,777,862
JBrowse link
G Kif1b kinesin family member 1B onset IEP
ISO
mRNA:decreased expression:precentral gyrus (human)
mRNA:increased expression, decreased expression:spinal cord, sciatic nerve (mouse)
RGD PMID:17418584 PMID:24904291 RGD:12738468, RGD:12738469 NCBI chr 5:159,607,697...159,742,778
Ensembl chr 5:159,561,271...159,742,778
JBrowse link
G Kif5a kinesin family member 5A ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 7:63,051,894...63,089,024
Ensembl chr 7:63,049,424...63,092,858
JBrowse link
G Lcn2 lipocalin 2 IEP protein:increased expression:spinal cord RGD PMID:23431168 RGD:126781758 NCBI chr 3:15,680,688...15,684,033
Ensembl chr 3:15,680,687...15,684,095
JBrowse link
G Lrrk2 leucine-rich repeat kinase 2 ISO mRNA:increased expression:skeletal muscle RGD PMID:21375368 RGD:5508417 NCBI chr 7:122,826,696...122,987,711
Ensembl chr 7:122,826,696...122,987,703
JBrowse link
G Maml1 mastermind-like transcriptional coactivator 1 ISO protein:increased expression:spinal chord RGD PMID:26067594 RGD:13524575 NCBI chr10:34,588,639...34,623,024
Ensembl chr10:34,588,646...34,623,338
JBrowse link
G Map1lc3a microtubule-associated protein 1 light chain 3 alpha ISO mRNA:increased expression:spinal cord RGD PMID:23851366 RGD:11561951 NCBI chr 3:143,783,024...143,784,670
Ensembl chr 3:143,783,024...143,784,670
JBrowse link
G Map3k5 mitogen-activated protein kinase kinase kinase 5 ISO protein:hyperphosphorylation:motor neuron: RGD PMID:15910777 RGD:10412312 NCBI chr 1:14,685,776...14,904,935
Ensembl chr 1:14,685,492...14,904,800
JBrowse link
G Mapk14 mitogen activated protein kinase 14 ISO protein:hyperphosphorylation:motor neuron: RGD PMID:15910777 RGD:10412312 NCBI chr20:6,749,646...6,810,590
Ensembl chr20:6,749,670...6,810,589
JBrowse link
G Matr3 matrin 3 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 NCBI chr18:27,154,098...27,193,212
Ensembl chr18:27,163,714...27,193,166
JBrowse link
G Mfn1 mitofusin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22975021 NCBI chr 2:115,313,380...115,359,651
Ensembl chr 2:115,313,401...115,359,640
JBrowse link
G Mfn2 mitofusin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22975021 NCBI chr 5:158,304,285...158,335,502
Ensembl chr 5:158,304,287...158,335,342
JBrowse link
G Mir206 microRNA 206 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22975021 PMID:27538595 NCBI chr 9:23,094,249...23,094,332
Ensembl chr 9:23,094,249...23,094,332
JBrowse link
G Mir214 microRNA 214 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27538595 NCBI chr13:74,588,374...74,588,481
Ensembl chr13:74,588,372...74,588,481
JBrowse link
G Mir23a microRNA 23a ISO CTD Direct Evidence: marker/mechanism CTD PMID:22975021 NCBI chr19:23,954,997...23,955,071
Ensembl chr19:23,954,997...23,955,071
JBrowse link
G Mir322 microRNA 322 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27538595 NCBI chr  X:132,806,594...132,806,688
Ensembl chr  X:132,806,594...132,806,688
JBrowse link
G Mir455 microRNA 455 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22975021 NCBI chr 5:76,689,313...76,689,390
Ensembl chr 5:76,689,313...76,689,390
JBrowse link
G Mmp1 matrix metallopeptidase 1 ISO protein:increased expression:serum (human) RGD PMID:19796283 RGD:7207054 NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097
JBrowse link
G Mmp2 matrix metallopeptidase 2 severity ISO protein:increased expression:serum, cerebrospinal fluid (human)
protein:increased expression:skin of body, spinal cord
RGD PMID:19796283 PMID:20441996 RGD:7207054, RGD:13204793 NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
JBrowse link
G Mmp9 matrix metallopeptidase 9 severity ISO protein:increased expression:serum, cerebrospinal fluid (human)
protein:increased expression:skin of body, spinal cord
RGD PMID:19796283 PMID:20441996 RGD:7207054, RGD:13204793 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
JBrowse link
G Mobp myelin-associated oligodendrocyte basic protein ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis
CTD
ClinVar
PMID:25741868 PMID:27455348 NCBI chr 8:119,869,504...119,899,605
Ensembl chr 8:119,869,626...119,899,563
JBrowse link
G Mstn myostatin IMP RGD PMID:16837207 RGD:2303556 NCBI chr 9:48,452,533...48,458,933
Ensembl chr 9:48,452,533...48,458,933
JBrowse link
G Mt1 metallothionein 1 ISO mRNA:increased expression:spinal cord (mouse) RGD PMID:16179515 RGD:6484130 NCBI chr19:10,826,032...10,827,048
Ensembl chr19:10,826,032...10,827,049
Ensembl chr17:10,826,032...10,827,049
JBrowse link
G Mt2A metallothionein 2A onset ISO mRNA:increased expression:soleus muscle, gastrocnemius muscle (mouse) RGD PMID:18000159 RGD:6482832 NCBI chr19:10,832,009...10,832,783
Ensembl chr19:10,832,002...10,832,784
JBrowse link
G Mt3 metallothionein 3 ISO RGD PMID:17097207 PMID:12388585 PMID:12417341 RGD:6480495, RGD:6480627, RGD:6480625 NCBI chr19:10,848,754...10,850,158
Ensembl chr19:10,848,755...10,850,158
JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility
no_association
ISO DNA:polymorphism: :c.677C>T(human) RGD PMID:21128869 PMID:21868135 RGD:11565111, RGD:11565173 NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
JBrowse link
G Mtnr1a melatonin receptor 1A disease_progression ISO protein:decreased expression:spinal chord RGD PMID:23537713 RGD:13524569 NCBI chr16:47,144,461...47,163,919
Ensembl chr16:47,144,461...47,163,919
JBrowse link
G Mtrex Mtr4 exosome RNA helicase ISO mRNA:increased expression:peripheral blood lymphocyte (human) RGD PMID:23006766 RGD:11041891 NCBI chr 2:44,500,326...44,560,624
Ensembl chr 2:44,461,444...44,560,627
JBrowse link
G Nefh neurofilament heavy chain treatment ISO DNA:deletions:cds:multiple (human)
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis
ClinVar
RGD
PMID:25741868 PMID:28492532 PMID:9931323 PMID:10686419 RGD:1302518, RGD:13525000 NCBI chr14:79,830,362...79,840,347
Ensembl chr14:79,830,362...79,840,351
JBrowse link
G Nefl neurofilament light chain treatment
severity
disease_progression
ISO protein:increased expression:serum (human)
protein:increased expression:serum, csf
RGD PMID:10686419 PMID:30309882 PMID:26273687 RGD:13525000, RGD:127284877, RGD:13525006 NCBI chr15:42,301,920...42,305,793
Ensembl chr15:42,301,916...42,305,793
JBrowse link
G Nefm neurofilament medium chain IGI RGD PMID:16006557 RGD:9698444 NCBI chr15:42,360,449...42,365,753
Ensembl chr15:42,360,454...42,365,755
JBrowse link
G Nek1 NIMA-related kinase 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis
CTD
ClinVar
PMID:25741868 PMID:26945885 PMID:27455347 NCBI chr16:28,998,229...29,125,426
Ensembl chr16:28,998,231...29,117,723
JBrowse link
G Nfe2l2 NFE2 like bZIP transcription factor 2 treatment ISO mRNA, protein:decreased expression:primary motor cortex, spinal cord (human)
CTD Direct Evidence: therapeutic
CTD
RGD
PMID:27012417 PMID:18957896 PMID:22056419 RGD:6893397, RGD:10412690 NCBI chr 3:60,594,239...60,621,712
Ensembl chr 3:60,594,242...60,621,737
JBrowse link
G Nos2 nitric oxide synthase 2 ISO protein:increased expression:spinal cord (mouse) RGD PMID:21867702 RGD:5509065 NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
JBrowse link
G Notch1 notch receptor 1 ISO protein:increased expression:spinal chord RGD PMID:26067594 RGD:13524575 NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531
JBrowse link
G Nrf1 nuclear respiratory factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22975021 NCBI chr 4:58,664,932...58,772,328
Ensembl chr 4:58,664,957...58,825,328
JBrowse link
G Nrg1 neuregulin 1 ameliorates ISO RGD PMID:32032731 RGD:405295499 NCBI chr16:59,250,658...60,304,519
Ensembl chr16:59,250,854...60,296,884
JBrowse link
G Optn optineurin ISO protein:increased expression:spinal cord, neuron
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis
CTD Direct Evidence: marker/mechanism
DNA:deletion, missense mutation, nonsense mutation:exon:p.Q398X, p.E478G (human)
DNA:missense mutations, nonsense mutation:cds, intron:multiple
ClinVar
CTD
RGD
PMID:9536098 PMID:17576681 PMID:21059646 PMID:25096716 PMID:25741868 More... RGD:6480502, RGD:6480506, RGD:6480504 NCBI chr17:73,209,572...73,260,251
Ensembl chr17:73,209,575...73,260,251
JBrowse link
G Pfn1 profilin 1 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 PMID:28492532 NCBI chr10:55,365,263...55,367,968
Ensembl chr10:55,365,262...55,527,631
JBrowse link
G Pgf placental growth factor ISO RGD PMID:22119626 RGD:6483573 NCBI chr 6:104,816,102...104,826,685
Ensembl chr 6:104,816,104...104,826,685
JBrowse link
G Pla2g4a phospholipase A2 group IVA ISO CTD Direct Evidence: marker/mechanism CTD PMID:15816863 NCBI chr13:61,877,818...62,022,261
Ensembl chr13:61,877,813...62,022,266
JBrowse link
G Pnpla6 patatin-like phospholipase domain containing 6 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 PMID:28492532 PMID:32579787 NCBI chr12:1,574,387...1,603,735
Ensembl chr12:1,560,363...1,603,734
JBrowse link
G Pon1 paraoxonase 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis
CTD
ClinVar
PMID:25741868 PMID:28070599 NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360
JBrowse link
G Pon2 paraoxonase 2 ISO DNA:SNP:intron:rs11981433, association with LD block containing both PON3 and PON2 (human) RGD PMID:16822964 RGD:5509925 NCBI chr 4:33,389,702...33,425,186
Ensembl chr 4:33,389,714...33,425,248
JBrowse link
G Pon3 paraoxonase 3 ISO DNA:SNP:intron:rs10487132, association with LD block containing both PON3 and PON2 (human)
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis
ClinVar
RGD
PMID:25741868 PMID:28492532 PMID:16822964 RGD:5509925 NCBI chr 4:33,356,983...33,383,681
Ensembl chr 4:33,349,168...33,383,855
JBrowse link
G Ppargc1a PPARG coactivator 1 alpha ISO human gene in mouse model
CTD Direct Evidence: marker/mechanism
mRNA:decreased expression:motor cortex, muscle (human)
mRNA:decreased expression:spinal cord, gastrocnemius muscle (mouse)
CTD
RGD
PMID:22975021 PMID:22102466 PMID:23147503 PMID:23147503 RGD:6484265, RGD:7242019, RGD:7242019 NCBI chr14:58,860,752...59,516,525
Ensembl chr14:58,861,144...59,512,656
JBrowse link
G Ppargc1b PPARG coactivator 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:22975021 NCBI chr18:54,758,891...54,861,103
Ensembl chr18:54,758,902...54,861,194
JBrowse link
G Ppp1r15a protein phosphatase 1, regulatory subunit 15A ISO protein:increased expression:spinal cord, astrocyte, microglia (mouse) RGD PMID:23118353 RGD:9999418 NCBI chr 1:96,000,053...96,003,128
Ensembl chr 1:96,000,058...96,003,171
JBrowse link
G Prph peripherin ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis, susceptibility to ClinVar PMID:15322088 PMID:15446584 PMID:25741868 PMID:28492532 PMID:32638105 NCBI chr 7:130,218,149...130,222,136
Ensembl chr 7:130,218,357...130,222,136
JBrowse link
G Psmc4 proteasome 26S subunit, ATPase 4 ISS MouseDO NCBI chr 1:83,349,127...83,357,497
Ensembl chr 1:83,348,592...83,357,494
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO protein:increased expression:spinal cord, neuron, glia
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:11220737 PMID:15816863 PMID:14511332 RGD:5688235 NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188
JBrowse link
G Ptprz1 protein tyrosine phosphatase, receptor type Z1 treatment IEP RGD PMID:25113670 RGD:9590123 NCBI chr 4:51,397,316...51,595,220
Ensembl chr 4:51,397,601...51,595,218
JBrowse link
G Rara retinoic acid receptor, alpha IEP RGD PMID:17956549 RGD:2314289 NCBI chr10:83,883,490...83,928,932
Ensembl chr10:83,893,384...83,928,142
JBrowse link
G RGD1359108 similar to RIKEN cDNA 3110043O21 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25442110 PMID:27713094 PMID:28122516 PMID:28478440 PMID:28973294 NCBI chr 5:49,766,340...49,791,434
Ensembl chr 5:49,766,325...49,791,408
JBrowse link
G Rnase4 ribonuclease A family member 4 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 NCBI chr15:24,312,765...24,330,112
Ensembl chr15:24,312,464...24,330,117
JBrowse link
G Runx1 RUNX family transcription factor 1 ISO mRNA:increased expression:skeletal muscle RGD PMID:18000159 RGD:6482832 NCBI chr11:31,839,880...32,074,427
Ensembl chr11:31,843,764...32,074,542
JBrowse link
G Sarm1 sterile alpha and TIR motif containing 1 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 NCBI chr10:63,369,456...63,393,016
Ensembl chr10:63,369,456...63,392,822
JBrowse link
G Scfd1 sec1 family domain containing 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis | ClinVar Annotator: match by term: Charcot disease
CTD
ClinVar
PMID:25741868 PMID:27455348 NCBI chr 6:68,795,810...68,874,076
Ensembl chr 6:68,795,878...68,874,078
JBrowse link
G Serpinf1 serpin family F member 1 ISO protein:increased expression:cerebrospinal fluid (human) RGD PMID:12067231 RGD:8554892 NCBI chr10:60,250,198...60,262,593
Ensembl chr10:60,249,708...60,262,646
JBrowse link
G Setx senataxin ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:18058631 PMID:23129421 PMID:23881933 PMID:25741868 PMID:26467025 More... NCBI chr 3:12,428,091...12,480,801
Ensembl chr 3:12,427,635...12,480,803
JBrowse link
G Sigmar1 sigma non-opioid intracellular receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24885036 NCBI chr 5:56,904,155...56,907,012
Ensembl chr 5:56,904,159...56,907,017
JBrowse link
G Sirt1 sirtuin 1 ISO protein:increased expression:spinal cord (mouse) RGD PMID:17581637 RGD:2290573 NCBI chr20:25,307,225...25,329,273
Ensembl chr20:25,306,917...25,329,260
JBrowse link
G Slc11a2 solute carrier family 11 member 2 onset ISO DNA:SNP: :rs407135 (human) RGD PMID:21276595 RGD:5688710 NCBI chr 7:131,503,076...131,540,246
Ensembl chr 7:131,503,081...131,540,145
JBrowse link
G Slc1a2 solute carrier family 1 member 2 ISO mRNA:processing errors:spinal cord, motor cortex (human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:11723166 PMID:9539131 RGD:1302517 NCBI chr 3:89,005,129...89,135,469
Ensembl chr 3:89,005,129...89,126,498
JBrowse link
G Slc31a1 solute carrier family 31 member 1 disease_progression ISO protein:increased expression:spinal chord RGD PMID:19656261 RGD:13524567 NCBI chr 5:75,814,744...75,844,241
Ensembl chr 5:75,814,743...75,844,228
JBrowse link
G Slc6a1 solute carrier family 6 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20132478 NCBI chr 4:147,448,961...147,482,295
Ensembl chr 4:147,466,965...147,482,293
JBrowse link
G Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28973294 NCBI chr 8:20,167,717...20,258,975
Ensembl chr 8:20,167,717...20,258,975
JBrowse link
G Sod1 superoxide dismutase 1 treatment ISO human gene in a rat model;DNA:missense mutation:cds:p.G93A (human)
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis | ClinVar Annotator: match by term: Charcot disease
CTD Direct Evidence: marker/mechanism
protein:increased expression:cerebrospinal fluid (human)
ClinVar
CTD
RGD
PMID:7647793 PMID:7655469 PMID:7836951 PMID:7887412 PMID:8298637 More... RGD:2312367, RGD:13524551, RGD:8655880 NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249
JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8866423 NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
JBrowse link
G Spg11 SPG11 vesicle trafficking associated, spatacsin ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis | ClinVar Annotator: match by term: Charcot disease ClinVar PMID:18337587 PMID:19466474 PMID:22696581 PMID:23733235 PMID:24833714 More... NCBI chr 3:109,007,658...109,072,904
Ensembl chr 3:109,008,135...109,072,911
JBrowse link
G Sptlc1 serine palmitoyltransferase, long chain base subunit 1 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 PMID:28492532 PMID:33879512 PMID:34059824 NCBI chr17:11,877,249...11,916,295
Ensembl chr17:11,877,249...11,916,295
JBrowse link
G Sqstm1 sequestosome 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis | ClinVar Annotator: match by term: Charcot disease
mRNA:increased expression:spinal cord
CTD
ClinVar
RGD
PMID:11473345 PMID:11992264 PMID:15125799 PMID:15176995 PMID:15493999 More... RGD:11561951 NCBI chr10:34,525,517...34,536,670
Ensembl chr10:34,525,519...34,536,673
JBrowse link
G Ss18l1 SS18L1 subunit of BAF chromatin remodeling complex ISO ClinVar Annotator: match by term: Charcot disease
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:25741868 PMID:28973294 NCBI chr 3:167,143,730...167,165,253
Ensembl chr 3:167,143,994...167,165,253
JBrowse link
G Steap2 STEAP2 metalloreductase disease_progression ISO protein:increased expression:spinal chord RGD PMID:19656261 RGD:13524567 NCBI chr 4:28,347,769...28,368,177
Ensembl chr 4:28,348,362...28,375,791
JBrowse link
G Stmn2 stathmin 2 ISS MouseDO NCBI chr 2:93,204,690...93,252,011
Ensembl chr 2:93,204,692...93,252,011
JBrowse link
G Tardbp TAR DNA binding protein disease_progression ISO CTD Direct Evidence: marker/mechanism
DNA:missense mutations:cds:
DNA:mutation:cds:p.G295S(human)
protein:increased phosphorylation:brain
DNA:mutation:cds:p.M337V(human)
CTD
RGD
PMID:18372902 PMID:21167262 PMID:22879928 PMID:23104007 PMID:23891805 More... RGD:5687134, RGD:5687192, RGD:5687173, RGD:5687158, RGD:5687157, RGD:5687137 NCBI chr 5:159,050,518...159,062,218
Ensembl chr 5:159,051,799...159,062,055
JBrowse link
G Tbk1 TANK-binding kinase 1 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis | ClinVar Annotator: match by term: Charcot disease ClinVar PMID:16199547 PMID:25741868 PMID:25803835 PMID:26476236 PMID:26581300 More... NCBI chr 7:57,077,830...57,110,868
Ensembl chr 7:57,077,830...57,110,892
JBrowse link
G Tfam transcription factor A, mitochondrial severity ISO RGD PMID:22354563 RGD:6767572 NCBI chr20:17,356,243...17,368,293
Ensembl chr20:17,356,197...17,368,292
JBrowse link
G Tnf tumor necrosis factor ISO protein:increased expression:spinal cord RGD PMID:13678668 RGD:12904653 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
JBrowse link
G Tnfrsf21 TNF receptor superfamily member 21 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24113175 NCBI chr 9:17,879,156...17,954,085
Ensembl chr 9:17,879,156...17,954,085
JBrowse link
G Tnip1 TNFAIP3 interacting protein 1 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 NCBI chr10:39,037,048...39,084,328
Ensembl chr10:39,037,058...39,077,625
JBrowse link
G Tp53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17434459 NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
JBrowse link
G Trpm7 transient receptor potential cation channel, subfamily M, member 7 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis-parkinsonism/dementia complex 1, susceptibility to ClinVar PMID:16051700 PMID:19405049 PMID:25741868 NCBI chr 3:114,046,258...114,134,799
Ensembl chr 3:114,046,258...114,135,190
JBrowse link
G Tuba4a tubulin, alpha 4A ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis
CTD
ClinVar
PMID:25741868 PMID:28478440 NCBI chr 9:76,709,617...76,714,327
Ensembl chr 9:76,709,614...76,713,918
JBrowse link
G Txnrd1 thioredoxin reductase 1 susceptibility ISO DNA:SNPs:intron:rs6539137, rs4630362 (human) RGD PMID:18996185 RGD:5685032 NCBI chr 7:20,830,042...20,914,990
Ensembl chr 7:20,830,045...20,907,863
JBrowse link
G Ubb ubiquitin B ISO CTD Direct Evidence: marker/mechanism CTD PMID:22994484 NCBI chr10:47,247,630...47,249,335
Ensembl chr10:47,245,637...47,249,333
JBrowse link
G Ubqln2 ubiquilin 2 ISO ClinVar Annotator: match by term: Lou Gehrig disease ClinVar
RGD
PMID:21857683 PMID:25333069 PMID:25616961 PMID:25741868 PMID:26075709 More... RGD:5147832 NCBI chr  X:17,853,086...17,856,505
Ensembl chr  X:17,853,114...17,856,505
JBrowse link
G Unc13a unc-13 homolog A no_association ISO DNA:SNP:intron:rs12608932 (human)
ClinVar Annotator: match by term: Charcot disease
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:19734901 PMID:25741868 PMID:27790088 PMID:20385924 PMID:19734901 RGD:5686382, RGD:5686384 NCBI chr16:18,333,910...18,381,813
Ensembl chr16:18,336,229...18,381,872
JBrowse link
G Vapb VAMP associated protein B and C ISO DNA:missense mutation:cds:p.P56S (human) RGD PMID:15372378 RGD:5688230 NCBI chr 3:162,535,974...162,578,747
Ensembl chr 3:162,535,905...162,573,763
JBrowse link
G Vcp valosin-containing protein ISO ClinVar Annotator: match by term: Charcot disease ClinVar PMID:15034582 PMID:18845250 PMID:20604808 PMID:22270372 PMID:22909335 More... NCBI chr 5:57,210,167...57,229,571
Ensembl chr 5:57,210,168...57,229,571
JBrowse link
G Vdr vitamin D receptor susceptibility ISO DNA:SNP:intron:rs7975232(human) RGD PMID:26190642 RGD:11560790 NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677
JBrowse link
G Vegfa vascular endothelial growth factor A ISO RGD PMID:16410746 RGD:1580568 NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
JBrowse link
G Zfp106 zinc finger protein 106 ISS MouseDO NCBI chr 3:107,459,232...107,510,507
Ensembl chr 3:107,462,096...107,510,481
JBrowse link
amyotrophic lateral sclerosis type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp5po ATP synthase peripheral stalk subunit OSCP ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:31,165,218...31,171,530
Ensembl chr11:31,165,217...31,171,592
JBrowse link
G Bcl2l1 Bcl2-like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 3:141,253,508...141,304,582
Ensembl chr 3:141,253,523...141,303,479
JBrowse link
G Bsg basigin (Ok blood group) ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 7:9,993,170...10,000,387
Ensembl chr 7:9,993,170...10,000,387
JBrowse link
G Calb2 calbindin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr19:38,114,435...38,141,438
Ensembl chr19:38,114,424...38,141,438
JBrowse link
G Casp1 caspase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 8:2,587,812...2,597,403
Ensembl chr 8:2,587,831...2,597,383
JBrowse link
G Cbr1 carbonyl reductase 1 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:32,860,571...32,862,981
Ensembl chr11:32,908,950...32,911,393
Ensembl chr11:32,908,950...32,911,393
JBrowse link
G Cbr3 carbonyl reductase 3 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:33,008,615...33,016,877
Ensembl chr11:33,008,615...33,016,875
JBrowse link
G Cd68 Cd68 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr10:54,381,814...54,383,693
Ensembl chr10:54,381,815...54,383,697
JBrowse link
G Cd7 Cd7 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr10:106,304,046...106,306,963
Ensembl chr10:106,304,056...106,306,967
JBrowse link
G Cfap298 cilia and flagella associated protein 298 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:30,181,916...30,191,302
Ensembl chr11:30,181,905...30,191,346
JBrowse link
G Chaf1b chromatin assembly factor 1 subunit B ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:33,200,894...33,221,076
Ensembl chr11:33,200,981...33,221,070
JBrowse link
G Cldn14 claudin 14 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:33,232,281...33,329,440
Ensembl chr11:33,232,220...33,329,171
JBrowse link
G Clic6 chloride intracellular channel 6 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:31,737,813...31,780,360
Ensembl chr11:31,737,813...31,780,061
JBrowse link
G Clu clusterin ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr15:40,161,068...40,200,315
Ensembl chr15:40,174,617...40,200,315
JBrowse link
G Cntf ciliary neurotrophic factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:11951178 NCBI chr 1:209,887,854...209,889,877
Ensembl chr 1:209,887,854...209,889,877
JBrowse link
G Crebbp CREB binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr10:11,335,551...11,461,888
Ensembl chr10:11,335,953...11,461,888
JBrowse link
G Cryzl1 crystallin zeta like 1 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:30,933,140...30,977,936
Ensembl chr11:30,933,144...30,977,867
JBrowse link
G Cst3 cystatin C ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 3:136,336,923...136,340,796
Ensembl chr 3:136,336,920...136,340,822
JBrowse link
G Ctsd cathepsin D ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 1:197,527,467...197,539,343
Ensembl chr 1:197,527,467...197,539,488
JBrowse link
G Dbx1 developing brain homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 1:99,348,638...99,354,173
Ensembl chr 1:99,349,608...99,354,038
JBrowse link
G Dctn1 dynactin subunit 1 susceptibility ISO ClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS 1, FAMILIAL | ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS 1, FAMILIAL | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1
ClinVar
OMIM
CTD
PMID:9536098 PMID:12062019 PMID:12627231 PMID:15326253 PMID:16199547 More... NCBI chr 4:115,671,024...115,703,824
Ensembl chr 4:115,661,638...115,703,815
JBrowse link
G Dnajc28 DnaJ heat shock protein family (Hsp40) member C28 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:30,855,566...30,858,386
Ensembl chr11:30,853,526...30,858,441
JBrowse link
G Donson DNA replication fork stabilization factor DONSON ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:30,919,834...30,933,150
Ensembl chr11:30,923,239...30,932,889
JBrowse link
G Dop1b DOP1 leucine zipper like protein B ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:33,024,376...33,125,931
Ensembl chr11:33,024,411...33,125,931
JBrowse link
G Dyrk1a dual specificity tyrosine phosphorylation regulated kinase 1A ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:33,890,706...34,009,420
Ensembl chr11:33,890,490...34,009,420
JBrowse link
G Epcip exosomal polycystin 1 interacting protein ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:30,307,842...30,325,829
Ensembl chr11:30,310,350...30,325,439
JBrowse link
G Eva1c eva-1 homolog C ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:30,089,510...30,163,596
Ensembl chr11:30,089,365...30,163,596
JBrowse link
G Fancg FA complementation group G ISO ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant ClinVar PMID:11438206 PMID:16643430 PMID:24728327 PMID:25741868 PMID:26740942 More... NCBI chr 5:57,230,287...57,240,067
Ensembl chr 5:57,231,685...57,240,029
JBrowse link
G Fgf6 fibroblast growth factor 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 4:159,854,913...159,863,447
Ensembl chr 4:159,854,913...159,863,447
JBrowse link
G Fig4 FIG4 phosphoinositide 5-phosphatase ISO ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant ClinVar NCBI chr20:44,600,603...44,724,047
Ensembl chr20:44,600,603...44,723,844
JBrowse link
G Fmo1 flavin containing dimethylaniline monoxygenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17127561 NCBI chr13:75,182,184...75,214,439
Ensembl chr13:75,182,176...75,214,647
JBrowse link
G Folh1 folate hydrolase 1 treatment ISO RGD PMID:12876198 RGD:737756 NCBI chr 1:140,428,101...140,501,563
Ensembl chr 1:140,428,101...140,501,379
JBrowse link
G Fos Fos proto-oncogene, AP-1 transcription factor subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 6:105,121,170...105,124,036
Ensembl chr 6:105,121,170...105,124,036
JBrowse link
G Fus Fus RNA binding protein ISO ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant ClinVar PMID:28492532 NCBI chr 1:182,576,479...182,590,417
Ensembl chr 1:182,576,545...182,590,414
JBrowse link
G Gabra1 gamma-aminobutyric acid type A receptor subunit alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr10:26,595,151...26,650,611
Ensembl chr10:26,595,160...26,650,864
JBrowse link
G Gart phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:30,864,896...30,891,125
Ensembl chr11:30,865,889...30,891,125
JBrowse link
G Gbx2 gastrulation brain homeobox 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 9:90,509,633...90,512,212
Ensembl chr 9:90,509,633...90,512,212
JBrowse link
G Gdi1 GDP dissociation inhibitor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr  X:152,087,611...152,094,274
Ensembl chr  X:152,087,444...152,094,272
JBrowse link
G Gfap glial fibrillary acidic protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr10:87,852,891...87,861,631
Ensembl chr10:87,852,890...87,861,589
JBrowse link
G Gria3 glutamate ionotropic receptor AMPA type subunit 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15264227 NCBI chr  X:120,238,515...120,504,106
Ensembl chr  X:120,238,534...120,504,096
JBrowse link
G Gsx2 GS homeobox 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr14:33,123,799...33,126,151
Ensembl chr14:33,124,381...33,126,105
JBrowse link
G Hlcs holocarboxylase synthetase ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:33,455,806...33,635,197
Ensembl chr11:33,455,809...33,624,222
JBrowse link
G Hsf1 heat shock transcription factor 1 ISO CTD Direct Evidence: therapeutic CTD PMID:24256636 NCBI chr 7:108,196,040...108,223,011
Ensembl chr 7:108,196,056...108,223,011
JBrowse link
G Hunk hormonally upregulated Neu-associated kinase ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:29,641,122...29,758,392
Ensembl chr11:29,640,775...29,757,526
JBrowse link
G Ifnar1 interferon alpha and beta receptor subunit 1 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:30,725,774...30,752,227
Ensembl chr11:30,725,790...30,749,979
JBrowse link
G Ifnar2 interferon alpha and beta receptor subunit 2 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:30,613,576...30,645,958
Ensembl chr11:30,613,767...30,668,124
JBrowse link
G Ifngr2 interferon gamma receptor 2 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:30,779,733...30,798,005
Ensembl chr11:30,779,733...30,798,005
JBrowse link
G Il10rb interleukin 10 receptor subunit beta ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:30,646,494...30,668,081
Ensembl chr11:30,652,096...30,668,074
JBrowse link
G Ina internexin neuronal intermediate filament protein, alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 1:245,896,775...245,908,330
Ensembl chr 1:245,896,775...245,908,330
JBrowse link
G Itsn1 intersectin 1 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:30,978,590...31,160,645
Ensembl chr11:30,978,590...31,160,645
JBrowse link
G Jak3 Janus kinase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr16:18,386,330...18,398,542
Ensembl chr16:18,386,405...18,398,536
JBrowse link
G Jund JunD proto-oncogene, AP-1 transcription factor subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr16:18,734,121...18,735,799
Ensembl chr16:18,734,122...18,735,799
JBrowse link
G Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:31,580,951...31,594,116
Ensembl chr11:31,580,742...31,593,901
JBrowse link
G Kcne2 potassium voltage-gated channel subfamily E regulatory subunit 2 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:31,517,176...31,530,026
Ensembl chr11:31,295,614...31,530,043
JBrowse link
G Kcnj6 potassium inwardly-rectifying channel, subfamily J, member 6 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:34,061,702...34,308,758
Ensembl chr11:34,061,708...34,308,758
JBrowse link
G Kif3c kinesin family member 3C ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 6:26,367,092...26,406,033
Ensembl chr 6:26,366,531...26,406,130
JBrowse link
G Kif5a kinesin family member 5A ISO mRNA:increased expression:frontal cortex, cerebellum, spinal cord (mouse) RGD PMID:23006449 RGD:12798528 NCBI chr 7:63,051,894...63,089,024
Ensembl chr 7:63,049,424...63,092,858
JBrowse link
G Kif5c kinesin family member 5C ISO mRNA:increased expression:frontal cortex, cerebellum (mouse) RGD PMID:23006449 RGD:12798528 NCBI chr 3:34,032,082...34,185,597
Ensembl chr 3:34,032,105...34,182,413
JBrowse link
G Lat linker for activation of T cells ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 1:180,936,536...180,941,561
Ensembl chr 1:180,936,534...180,941,578
JBrowse link
G Ldlr low density lipoprotein receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 8:20,270,020...20,292,981
Ensembl chr 8:20,270,041...20,294,580
JBrowse link
G Masp2 MBL associated serine protease 2 ISO ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant ClinVar PMID:24033266 PMID:28492532 NCBI chr 5:159,035,892...159,049,561
Ensembl chr 5:159,035,911...159,049,580
JBrowse link
G Mis18a MIS18 kinetochore protein A ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:29,968,030...29,981,058
Ensembl chr11:29,967,701...29,981,062
JBrowse link
G Morc3 MORC family CW-type zinc finger 3 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:33,151,906...33,194,650
Ensembl chr11:33,152,025...33,194,646
JBrowse link
G Mrap melanocortin 2 receptor accessory protein ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:29,991,974...30,003,024
Ensembl chr11:29,992,034...30,003,024
JBrowse link
G Mrps6 mitochondrial ribosomal protein S6 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:31,295,358...31,348,483
Ensembl chr11:31,295,614...31,348,484
JBrowse link
G Nefh neurofilament heavy chain ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 | ClinVar Annotator: match by term: NEFH-related condition
CTD
OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:28749476 PMID:29411640 PMID:29650794 More... NCBI chr14:79,830,362...79,840,347
Ensembl chr14:79,830,362...79,840,351
JBrowse link
G Olig1 oligodendrocyte transcription factor 1 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:30,514,379...30,516,521
Ensembl chr11:30,514,379...30,516,521
JBrowse link
G Olig2 oligodendrocyte transcription factor 2 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:30,475,510...30,478,886
Ensembl chr11:30,475,398...30,480,152
JBrowse link
G Otog otogelin ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 1:96,746,336...96,815,416
Ensembl chr 1:96,746,336...96,815,415
JBrowse link
G Paxbp1 PAX3 and PAX7 binding protein 1 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:30,272,037...30,301,504
Ensembl chr11:30,272,037...30,301,648
JBrowse link
G Pdgfa platelet derived growth factor subunit A ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr12:15,645,549...15,667,056
Ensembl chr12:15,645,541...15,666,497
JBrowse link
G Penk proenkephalin ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 5:17,183,799...17,189,160
Ensembl chr 5:17,183,806...17,189,129
JBrowse link
G Pigp phosphatidylinositol glycan anchor biosynthesis, class P ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:33,682,943...33,689,111
Ensembl chr11:33,682,948...33,689,321
JBrowse link
G Pon1 paraoxonase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17204329 NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360
JBrowse link
G Prph peripherin susceptibility ISO ClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS 1, FAMILIAL | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:25741868 NCBI chr 7:130,218,149...130,222,136
Ensembl chr 7:130,218,357...130,222,136
JBrowse link
G Rcan1 regulator of calcineurin 1 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:31,622,208...31,702,150
Ensembl chr11:31,622,210...31,702,045
JBrowse link
G Ripply3 ripply transcriptional repressor 3 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:33,648,471...33,656,587
Ensembl chr11:33,648,486...33,656,584
JBrowse link
G Runx1 RUNX family transcription factor 1 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:31,839,880...32,074,427
Ensembl chr11:31,843,764...32,074,542
JBrowse link
G Rxra retinoid X receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 3:10,989,832...11,076,366
Ensembl chr 3:10,989,832...11,073,712
JBrowse link
G Scaf4 SR-related CTD-associated factor 4 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:17237124 PMID:23512985 PMID:25741868 PMID:28492532 NCBI chr11:29,460,479...29,521,153
Ensembl chr11:29,465,106...29,521,153
JBrowse link
G Selplg selectin P ligand ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr12:42,796,690...42,809,908
Ensembl chr12:42,796,580...42,812,585
JBrowse link
G Serpina3n serine (or cysteine) peptidase inhibitor, clade A, member 3N ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 6:123,323,623...123,331,181
Ensembl chr 6:123,323,629...123,332,433
JBrowse link
G Setd4 SET domain containing 4 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:32,829,509...32,859,162
Ensembl chr11:32,838,063...32,858,243
JBrowse link
G Setx senataxin ISO ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant ClinVar PMID:23757202 PMID:25741868 PMID:28492532 NCBI chr 3:12,428,091...12,480,801
Ensembl chr 3:12,427,635...12,480,803
JBrowse link
G Shc1 SHC adaptor protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 2:174,837,937...174,849,538
Ensembl chr 2:174,837,930...174,849,536
JBrowse link
G Sim2 SIM bHLH transcription factor 2 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:33,414,218...33,453,663
Ensembl chr11:33,414,218...33,453,663
JBrowse link
G Six2 SIX homeobox 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 6:8,974,859...8,981,345
Ensembl chr 6:8,967,157...8,981,193
JBrowse link
G Slc5a3 solute carrier family 5 member 3 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:31,313,847...31,316,293
Ensembl chr11:31,295,476...31,318,883
JBrowse link
G Smim11 small integral membrane protein 11 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:31,533,257...31,543,002
Ensembl chr11:31,532,764...31,543,002
JBrowse link
G Snai1 snail family transcriptional repressor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 3:156,248,479...156,252,969
Ensembl chr 3:156,248,485...156,252,969
JBrowse link
G Sod1 superoxide dismutase 1 ISO
ISS
ClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS 1, FAMILIAL | ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 1, autosomal recessive | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1
OMIM:105400
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:p.D90A (human)
DNA:missense mutations:cds:multiple (human)
DNA:missense mutation:cds:p.I113T (human)
OMIM
ClinVar
MouseDO
CTD
RGD
PMID:1248932 PMID:1259395 PMID:1463506 PMID:2517465 PMID:7496169 More... RGD:8655873, RGD:8655862, RGD:8655618, RGD:737689 NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249
JBrowse link
G Sod2 superoxide dismutase 2 ISS OMIM:105400 MouseDO NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
JBrowse link
G Son SON DNA and RNA binding protein ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:30,850,890...30,923,167
Ensembl chr11:30,892,005...30,923,167
JBrowse link
G Synj1 synaptojanin 1 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:30,192,629...30,269,447
Ensembl chr11:30,192,629...30,269,220
JBrowse link
G Tardbp TAR DNA binding protein ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS 1, FAMILIAL | ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant
CTD
ClinVar
PMID:19411082 PMID:20082726 PMID:20675015 PMID:20708823 PMID:22575358 More... NCBI chr 5:159,050,518...159,062,218
Ensembl chr 5:159,051,799...159,062,055
JBrowse link
G Tiam1 TIAM Rac1 associated GEF 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1
CTD
ClinVar
PMID:11796754 PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:29,031,347...29,380,153
Ensembl chr11:29,031,348...29,159,901
JBrowse link
G Tle3 TLE family member 3, transcriptional corepressor ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 8:61,857,791...61,903,505
Ensembl chr 8:61,858,200...61,903,493
JBrowse link
G Tmem50b transmembrane protein 50B ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:30,804,835...30,837,675
Ensembl chr11:30,804,837...30,837,661
JBrowse link
G Tmsb4x thymosin beta 4, X-linked ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr  X:27,144,666...27,146,667
Ensembl chr  X:27,128,610...27,146,667
JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
JBrowse link
G Ttc3 tetratricopeptide repeat domain 3 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:33,689,119...33,788,976
Ensembl chr11:33,688,952...33,788,975
JBrowse link
G Ubqln2 ubiquilin 2 ISO ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant ClinVar PMID:19377476 PMID:22560112 PMID:23138764 PMID:25741868 PMID:26467025 More... NCBI chr  X:17,853,086...17,856,505
Ensembl chr  X:17,853,114...17,856,505
JBrowse link
G Unc13a unc-13 homolog A ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:25741868 NCBI chr16:18,333,910...18,381,813
Ensembl chr16:18,336,229...18,381,872
JBrowse link
G Urb1 URB1 ribosome biogenesis homolog ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:30,004,539...30,065,315
Ensembl chr11:30,004,539...30,065,363
JBrowse link
G Vapb VAMP associated protein B and C ISO ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar NCBI chr 3:162,535,974...162,578,747
Ensembl chr 3:162,535,905...162,573,763
JBrowse link
G Vcp valosin-containing protein ISO ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant ClinVar PMID:11438206 PMID:16643430 PMID:24728327 PMID:25741868 PMID:26740942 More... NCBI chr 5:57,210,167...57,229,571
Ensembl chr 5:57,210,168...57,229,571
JBrowse link
G Vegfa vascular endothelial growth factor A ISS OMIM:105400 MouseDO NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
JBrowse link
G Vim vimentin ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr17:76,668,701...76,677,186
Ensembl chr17:76,668,647...76,677,187
JBrowse link
G Vps26c VPS26 endosomal protein sorting factor C ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:33,813,467...33,841,883
Ensembl chr11:33,792,389...33,841,447
JBrowse link
G Vps54 VPS54 subunit of GARP complex ISS OMIM:105400 MouseDO NCBI chr14:95,378,821...95,455,871
Ensembl chr14:95,378,012...95,455,857
JBrowse link
G Wnt7a Wnt family member 7A ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 4:123,863,108...123,908,981
Ensembl chr 4:123,863,108...123,908,981
JBrowse link
G Xiap X-linked inhibitor of apoptosis ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr  X:120,890,537...120,938,413
Ensembl chr  X:120,897,907...120,934,700
JBrowse link
amyotrophic lateral sclerosis type 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ang angiogenin ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 10 ClinVar PMID:17703939 PMID:18087731 PMID:22190368 PMID:25741868 PMID:28492532 NCBI chr15:24,312,711...24,323,361 JBrowse link
G Erbb4 erb-b2 receptor tyrosine kinase 4 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 10 ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:69,523,733...70,596,743
Ensembl chr 9:69,531,481...70,596,595
JBrowse link
G Grn granulin precursor ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 10 ClinVar PMID:16862116 PMID:16950801 PMID:17698705 PMID:22608501 PMID:25741868 More... NCBI chr10:87,387,672...87,393,777
Ensembl chr10:87,387,638...87,393,775
JBrowse link
G Masp2 MBL associated serine protease 2 ISO ClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS 10 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA ClinVar NCBI chr 5:159,035,892...159,049,561
Ensembl chr 5:159,035,911...159,049,580
JBrowse link
G Optn optineurin ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 10 ClinVar PMID:20428114 PMID:21802176 PMID:21852022 PMID:25741868 PMID:26203661 More... NCBI chr17:73,209,572...73,260,251
Ensembl chr17:73,209,575...73,260,251
JBrowse link
G Prph peripherin ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 10 ClinVar PMID:25741868 NCBI chr 7:130,218,149...130,222,136
Ensembl chr 7:130,218,357...130,222,136
JBrowse link
G Rnase4 ribonuclease A family member 4 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 10 ClinVar PMID:17703939 PMID:18087731 PMID:22190368 PMID:25741868 PMID:28492532 NCBI chr15:24,312,765...24,330,112
Ensembl chr15:24,312,464...24,330,117
JBrowse link
G Sod1 superoxide dismutase 1 ISO ClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS 10 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA ClinVar PMID:7891072 PMID:8351519 PMID:8446170 PMID:9008494 PMID:9029070 More... NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249
JBrowse link
G Tardbp TAR DNA binding protein ISO
ISS
ClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS 10 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 10 | ClinVar Annotator: match by term: FRONTOTEMPORAL DEMENTIA WITH TDP43 INCLUSIONS, TARDBP-RELATED | ClinVar Annotator: match by term: TARDBP-related condition
OMIM:612069
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
MouseDO
CTD
PMID:18068872 PMID:18288693 PMID:18309045 PMID:18372902 PMID:18396105 More... NCBI chr 5:159,050,518...159,062,218
Ensembl chr 5:159,051,799...159,062,055
JBrowse link
G Tuba4a tubulin, alpha 4A ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 10 ClinVar PMID:25741868 NCBI chr 9:76,709,617...76,714,327
Ensembl chr 9:76,709,614...76,713,918
JBrowse link
amyotrophic lateral sclerosis type 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fig4 FIG4 phosphoinositide 5-phosphatase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 11
OMIM
CTD
ClinVar
PMID:9536098 PMID:17572665 PMID:17576681 PMID:18180444 PMID:18261132 More... NCBI chr20:44,600,603...44,724,047
Ensembl chr20:44,600,603...44,723,844
JBrowse link
amyotrophic lateral sclerosis type 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Optn optineurin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 12
CTD
ClinVar
OMIM
PMID:11834836 PMID:11978762 PMID:12208142 PMID:12789137 PMID:12939304 More... NCBI chr17:73,209,572...73,260,251
Ensembl chr17:73,209,575...73,260,251
JBrowse link
amyotrophic lateral sclerosis type 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ubqln2 ubiquilin 2 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 15
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:19377476 PMID:21857683 PMID:22560112 PMID:22892309 PMID:23138764 More... NCBI chr  X:17,853,086...17,856,505
Ensembl chr  X:17,853,114...17,856,505
JBrowse link
amyotrophic lateral sclerosis type 16 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sigmar1 sigma non-opioid intracellular receptor 1 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 16
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:21842496 PMID:24088041 PMID:25175561 PMID:25704016 PMID:25741868 More... NCBI chr 5:56,904,155...56,907,012
Ensembl chr 5:56,904,159...56,907,017
JBrowse link
amyotrophic lateral sclerosis type 18 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pfn1 profilin 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 18 | ClinVar Annotator: match by term: PFN1-related condition
OMIM
CTD
ClinVar
PMID:22801503 PMID:24309268 PMID:25741868 PMID:26908597 PMID:28492532 More... NCBI chr10:55,365,263...55,367,968
Ensembl chr10:55,365,262...55,527,631
JBrowse link
amyotrophic lateral sclerosis type 19 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Erbb4 erb-b2 receptor tyrosine kinase 4 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 19 | ClinVar Annotator: match by term: ERBB4-related condition
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9536098 PMID:17576681 PMID:24119685 PMID:25741868 PMID:28492532 More... NCBI chr 9:69,523,733...70,596,743
Ensembl chr 9:69,531,481...70,596,595
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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 20
OMIM
CTD
ClinVar
PMID:23455423 PMID:25741868 NCBI chr 7:134,375,318...134,381,610
Ensembl chr 7:134,375,150...134,381,609
JBrowse link
amyotrophic lateral sclerosis type 21 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Matr3 matrin 3 ISO
ISS
OMIM:606070
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 21 | ClinVar Annotator: match by term: Myopathy, distal, 2
OMIM
MouseDO
CTD
ClinVar
PMID:9536098 PMID:9837826 PMID:17576681 PMID:19344878 PMID:24686783 More... NCBI chr18:27,154,098...27,193,212
Ensembl chr18:27,163,714...27,193,166
JBrowse link
amyotrophic lateral sclerosis type 22 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tuba4a tubulin, alpha 4A ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 22 with frontotemporal dementia | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 22
OMIM
CTD
ClinVar
PMID:25374358 PMID:25741868 NCBI chr 9:76,709,617...76,714,327
Ensembl chr 9:76,709,614...76,713,918
JBrowse link
amyotrophic lateral sclerosis type 23 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Anxa11 annexin A11 ISO ClinVar Annotator: match by term: ANXA11-related condition | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 23 OMIM
ClinVar
PMID:25741868 PMID:28469040 PMID:28492532 PMID:29650794 PMID:29845112 More... NCBI chr16:1,412,373...1,457,814
Ensembl chr16:1,410,756...1,457,797
JBrowse link
amyotrophic lateral sclerosis type 24 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nek1 NIMA-related kinase 1 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis, susceptibility to, 24 ClinVar
OMIM
PMID:21211617 PMID:22499340 PMID:24033266 PMID:25741868 PMID:26945885 More... NCBI chr16:28,998,229...29,125,426
Ensembl chr16:28,998,231...29,117,723
JBrowse link
amyotrophic lateral sclerosis type 25 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kif5a kinesin family member 5A susceptibility ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis, susceptibility to, 25 | ClinVar Annotator: match by term: KIF5A-related amyotrophic lateral sclerosis ClinVar
OMIM
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:29342275 More... NCBI chr 7:63,051,894...63,089,024
Ensembl chr 7:63,049,424...63,092,858
JBrowse link
amyotrophic lateral sclerosis type 26 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tia1 TIA1 cytotoxic granule-associated RNA binding protein ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 26 with or without frontotemporal dementia OMIM
ClinVar
PMID:28492532 PMID:28817800 PMID:29216908 PMID:29886022 PMID:36112647 NCBI chr 4:118,852,765...118,883,252
Ensembl chr 4:118,852,837...118,880,586
JBrowse link
amyotrophic lateral sclerosis type 28 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrp12 LDL receptor related protein 12 ISO OMIM NCBI chr 7:70,941,068...71,012,409
Ensembl chr 7:70,941,068...71,012,441
JBrowse link
amyotrophic lateral sclerosis type 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fus Fus RNA binding protein ISO
ISS
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 6, autosomal recessive | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 6
OMIM:608030
CTD Direct Evidence: marker/mechanism
DNA:mutations:cds:
OMIM
ClinVar
MouseDO
CTD
RGD
PMID:9536098 PMID:12840784 PMID:12858291 PMID:16199547 PMID:17576681 More... RGD:9685712 NCBI chr 1:182,576,479...182,590,417
Ensembl chr 1:182,576,545...182,590,414
JBrowse link
G Vcp valosin-containing protein ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 6 ClinVar PMID:30103325 NCBI chr 5:57,210,167...57,229,571
Ensembl chr 5:57,210,168...57,229,571
JBrowse link
amyotrophic lateral sclerosis type 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vapb VAMP associated protein B and C ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 8
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9536098 PMID:15372378 PMID:16187141 PMID:16967488 PMID:17576681 More... NCBI chr 3:162,535,974...162,578,747
Ensembl chr 3:162,535,905...162,573,763
JBrowse link
amyotrophic lateral sclerosis type 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ang angiogenin ISO ClinVar Annotator: match by term: ANG-related condition | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 9
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:16501576 PMID:17462671 PMID:17703939 PMID:17886298 PMID:17900154 More... NCBI chr15:24,312,711...24,323,361 JBrowse link
G Rnase4 ribonuclease A family member 4 ISO ClinVar Annotator: match by term: ANG-related condition | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 9 ClinVar PMID:16501576 PMID:17462671 PMID:17703939 PMID:17886298 PMID:17900154 More... NCBI chr15:24,312,765...24,330,112
Ensembl chr15:24,312,464...24,330,117
JBrowse link
Amyotrophic Lateral Sclerosis, Autosomal Recessive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Als2 alsin Rho guanine nucleotide exchange factor ALS2 ISO ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Recessive ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:60,613,182...60,686,394
Ensembl chr 9:60,613,167...60,670,737
JBrowse link
G Optn optineurin ISO ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Recessive ClinVar NCBI chr17:73,209,572...73,260,251
Ensembl chr17:73,209,575...73,260,251
JBrowse link
amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Park7 Parkinsonism associated deglycase ISO ClinVar Annotator: match by term: Guam disease ClinVar PMID:25741868 NCBI chr 5:161,353,718...161,376,993
Ensembl chr 5:161,353,719...161,376,970
JBrowse link
G Trpm7 transient receptor potential cation channel, subfamily M, member 7 susceptibility
no_association
ISO DNA:mutation:cds: p.T1482I (human)
ClinVar Annotator: match by term: Guam disease
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
RGD
PMID:25741868 PMID:28492532 PMID:16051700 PMID:19405049 RGD:5685005, RGD:5685008 NCBI chr 3:114,046,258...114,134,799
Ensembl chr 3:114,046,258...114,135,190
JBrowse link
APP-related cerebral amyloid angiopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G App amyloid beta precursor protein ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: AMYLOIDOSIS, CEREBROARTERIAL, APP-RELATED | ClinVar Annotator: match by term: CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, ARCTIC VARIANT | ClinVar Annotator: match by term: CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, FLEMISH VARIANT | ClinVar Annotator: match by term: CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, IOWA VARIANT | ClinVar Annotator: match by term: CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, ITALIAN VARIANT | ClinVar Annotator: match by term: Cerebral amyloid angiopathy, APP-related
CTD
ClinVar
OMIM
PMID:1303172 PMID:1303239 PMID:1303275 PMID:1415269 PMID:1520398 More... NCBI chr11:24,019,774...24,236,584
Ensembl chr11:24,019,778...24,236,561
JBrowse link
Bilateral Striatal Necrosis with Dystonia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mt-nd6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 ISO ClinVar Annotator: match by term: Striatal necrosis, bilateral, with dystonia ClinVar PMID:12205655 PMID:14520668 PMID:14595656 PMID:16337195 PMID:32906214 More... NCBI chr MT:13,543...14,061
NCBI chr MT:13,543...14,061
NCBI chr MT:13,543...14,061
NCBI chr MT:13,543...14,061
Ensembl chr MT:13,543...14,061
JBrowse link
cardiac amyloidosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Crebbp CREB binding protein ISO ClinVar Annotator: match by term: AMYLOID CARDIOMYOPATHY ClinVar PMID:25741868 PMID:28492532 NCBI chr10:11,335,551...11,461,888
Ensembl chr10:11,335,953...11,461,888
JBrowse link
G Mybpc3 myosin binding protein C3 ISO ClinVar Annotator: match by term: AMYLOID CARDIOMYOPATHY ClinVar PMID:11499719 PMID:12974739 PMID:15519027 PMID:17560888 PMID:22464770 More... NCBI chr 3:77,095,165...77,113,406
Ensembl chr 3:77,095,252...77,113,405
JBrowse link
G Pkp2 plakophilin 2 ISO ClinVar Annotator: match by term: AMYLOID CARDIOMYOPATHY ClinVar PMID:25351510 PMID:25741868 PMID:28492532 PMID:28600387 PMID:30847666 NCBI chr11:84,661,783...84,727,730
Ensembl chr11:84,661,783...84,727,730
JBrowse link
G Tnni3 troponin I3, cardiac type ISO ClinVar Annotator: match by term: AMYLOID CARDIOMYOPATHY ClinVar PMID:11815426 PMID:12860912 PMID:15524171 PMID:15607392 PMID:18175163 More... NCBI chr 1:69,299,900...69,303,582
Ensembl chr 1:69,299,900...69,303,580
JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: AMYLOID CARDIOMYOPATHY ClinVar PMID:23861362 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 3:61,652,432...61,924,912
Ensembl chr 3:61,652,439...61,924,741
JBrowse link
G Ttr transthyretin ISO ClinVar Annotator: match by term: AMYLOID CARDIOMYOPATHY ClinVar PMID:192115 PMID:1301926 PMID:1330202 PMID:1335038 PMID:1350083 More... NCBI chr18:11,941,791...11,951,008
Ensembl chr18:11,943,789...11,951,008
JBrowse link
cerebral amyloid angiopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aoc3 amine oxidase, copper containing 3 ISO associated with Alzheimer Disease;protein:increased expression:brain RGD PMID:17393059 RGD:2313919 NCBI chr10:86,272,757...86,280,702 JBrowse link
G Apoa1 apolipoprotein A1 ISO RGD PMID:20739292 RGD:5508213 NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035
JBrowse link
G Apoe apolipoprotein E ISO CTD Direct Evidence: marker/mechanism CTD PMID:11061249 NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
JBrowse link
G App amyloid beta precursor protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:21520056 NCBI chr11:24,019,774...24,236,584
Ensembl chr11:24,019,778...24,236,561
JBrowse link
G Aqp4 aquaporin 4 ISO RGD PMID:21107133 RGD:5148012 NCBI chr18:6,507,903...6,524,558
Ensembl chr18:6,507,903...6,524,856
JBrowse link
G Ccr1 C-C motif chemokine receptor 1 ISO RGD PMID:14595653 RGD:5688166 NCBI chr 8:123,556,286...123,561,841 JBrowse link
G Itm2b integral membrane protein 2B ISS MouseDO NCBI chr15:48,545,998...48,568,904
Ensembl chr15:48,546,001...48,568,917
JBrowse link
G Mme membrane metallo-endopeptidase severity ISO associated with Alzheimer Disease;protein:decreased expression:frontal lobe cortex (human) RGD PMID:17021406 PMID:21382117 RGD:1600811, RGD:13801026 NCBI chr 2:147,686,913...147,803,808
Ensembl chr 2:147,722,086...147,803,792
JBrowse link
G Olr1 oxidized low density lipoprotein receptor 1 ISO RGD PMID:16328515 RGD:1580993 NCBI chr 4:162,926,436...162,949,057
Ensembl chr 4:162,926,439...162,948,523
JBrowse link
G Psen1 presenilin 1 ISO GAD PMID:15118671 RGD:1331525 NCBI chr 6:103,323,052...103,375,088
Ensembl chr 6:103,323,120...103,371,650
JBrowse link
classic dopamine transporter deficiency syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc6a3 solute carrier family 6 member 3 ISO ClinVar Annotator: match by term: Classic dopamine transporter deficiency syndrome | ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile, 1 OMIM
ClinVar
PMID:10889530 PMID:16103889 PMID:16171832 PMID:16199547 PMID:16212992 More... NCBI chr 1:29,709,443...29,750,413
Ensembl chr 1:29,709,443...29,750,413
JBrowse link
CST3-related cerebral amyloid angiopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G App amyloid beta precursor protein ISO ClinVar Annotator: match by term: Hereditary cerebral hemorrhage with amyloidosis ClinVar PMID:25604855 PMID:25741868 PMID:28492532 NCBI chr11:24,019,774...24,236,584
Ensembl chr11:24,019,778...24,236,561
JBrowse link
G Cst3 cystatin C ISO ClinVar Annotator: match by term: Hereditary cerebral amyloid angiopathy, Icelandic type
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:2363674 PMID:2567273 PMID:2900981 PMID:8108423 PMID:11815350 More... NCBI chr 3:136,336,923...136,340,796
Ensembl chr 3:136,336,920...136,340,822
JBrowse link
dopamine transporter deficiency syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ahrr aryl-hydrocarbon receptor repressor ISO ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chr 1:28,993,634...29,088,673
Ensembl chr 1:28,993,634...29,088,673
JBrowse link
G Brd9 bromodomain containing 9 ISO ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chr 1:29,329,981...29,357,285
Ensembl chr 1:29,329,985...29,357,016
JBrowse link
G Cep72 centrosomal protein 72 ISO ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chr 1:29,225,312...29,255,294
Ensembl chr 1:29,225,361...29,255,271
JBrowse link
G Clptm1l CLPTM1-like ISO ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chr 1:29,667,545...29,683,530
Ensembl chr 1:29,667,545...29,683,530
JBrowse link
G Exoc3 exocyst complex component 3 ISO ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chr 1:29,091,298...29,122,056
Ensembl chr 1:29,091,294...29,122,045
JBrowse link
G Irx4 iroquois homeobox 4 ISO ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chr 1:30,030,561...30,039,549
Ensembl chr 1:30,030,561...30,039,549
JBrowse link
G Lpcat1 lysophosphatidylcholine acyltransferase 1 ISO ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chr 1:29,766,070...29,816,401
Ensembl chr 1:29,766,071...29,816,401
JBrowse link
G Mrpl36 mitochondrial ribosomal protein L36 ISO ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chr 1:29,965,481...29,968,896
Ensembl chr 1:29,965,317...29,968,807
JBrowse link
G Ndufs6 NADH:ubiquinone oxidoreductase subunit S6 ISO ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chr 1:29,968,833...29,977,423
Ensembl chr 1:29,968,842...29,977,467
JBrowse link
G Nkd2 NKD inhibitor of WNT signaling pathway 2 ISO ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chr 1:29,442,898...29,470,839
Ensembl chr 1:29,441,328...29,470,821
JBrowse link
G Pdcd6 programmed cell death 6 ISO ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chr 1:28,966,518...28,982,188
Ensembl chr 1:28,966,518...28,982,189
JBrowse link
G Sdha succinate dehydrogenase complex flavoprotein subunit A ISO ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chr 1:28,935,965...28,960,936
Ensembl chr 1:28,940,164...28,961,535
JBrowse link
G Slc12a7 solute carrier family 12 member 7 ISO ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chr 1:29,472,692...29,554,246
Ensembl chr 1:29,472,692...29,554,302
JBrowse link
G Slc6a18 solute carrier family 6 member 18 ISO ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chr 1:29,607,288...29,621,925
Ensembl chr 1:29,608,077...29,621,925
JBrowse link
G Slc6a19 solute carrier family 6 member 19 ISO ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chr 1:29,586,191...29,604,964
Ensembl chr 1:29,586,195...29,604,962
JBrowse link
G Slc6a3 solute carrier family 6 member 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: DOPAMINE TRANSPORTER DEFICIENCY SYNDROME | ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile
CTD
ClinVar
PMID:9536098 PMID:10889530 PMID:16103889 PMID:16171832 PMID:16199547 More... NCBI chr 1:29,709,443...29,750,413
Ensembl chr 1:29,709,443...29,750,413
JBrowse link
G Slc9a3 solute carrier family 9 member A3 ISO ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chr 1:29,124,633...29,167,912
Ensembl chr 1:29,124,674...29,167,417
JBrowse link
G Tert telomerase reverse transcriptase ISO ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561
JBrowse link
G Tppp tubulin polymerization promoting protein ISO ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chr 1:29,257,111...29,281,134
Ensembl chr 1:29,261,255...29,281,134
JBrowse link
G Trip13 thyroid hormone receptor interactor 13 ISO ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chr 1:29,357,093...29,402,078
Ensembl chr 1:29,357,130...29,402,074
JBrowse link
G Zdhhc11 zinc finger, DHHC-type containing 11 ISO ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chr 1:29,296,334...29,327,227
Ensembl chr 1:29,296,334...29,326,898
JBrowse link
Familial Amyloid Polyneuropathies term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoa1 apolipoprotein A1 ISO ClinVar Annotator: match by term: Familial amyloid polyneuropathy type III ClinVar PMID:2123470 PMID:3142462 PMID:4304452 PMID:17665932 PMID:21296086 More... NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035
JBrowse link
G Crebbp CREB binding protein ISO ClinVar Annotator: match by term: Familial amyloid neuropathy ClinVar PMID:25741868 PMID:28492532 NCBI chr10:11,335,551...11,461,888
Ensembl chr10:11,335,953...11,461,888
JBrowse link
G Dsc1 desmocollin 1 ISO ClinVar Annotator: match by term: Familial amyloid neuropathy ClinVar PMID:28492532 NCBI chr18:11,499,936...11,556,801
Ensembl chr18:11,502,003...11,528,494
JBrowse link
G Dsc2 desmocollin 2 ISO ClinVar Annotator: match by term: Familial amyloid neuropathy ClinVar PMID:28492532 NCBI chr18:11,450,392...11,482,476
Ensembl chr18:11,450,390...11,482,392
JBrowse link
G Dsg1 desmoglein 1 ISO ClinVar Annotator: match by term: Familial amyloid neuropathy ClinVar PMID:28492532 NCBI chr18:11,674,687...11,705,383
Ensembl chr18:11,674,402...11,703,443
JBrowse link
G Dsg2 desmoglein 2 ISO ClinVar Annotator: match by term: Familial amyloid neuropathy ClinVar PMID:28492532 NCBI chr18:11,846,207...11,904,630
Ensembl chr18:11,846,183...11,904,156
JBrowse link
G Dsg3 desmoglein 3 ISO ClinVar Annotator: match by term: Familial amyloid neuropathy ClinVar PMID:28492532 NCBI chr18:11,799,355...11,830,988
Ensembl chr18:11,798,900...11,830,818
JBrowse link
G Dsg4 desmoglein 4 ISO ClinVar Annotator: match by term: Familial amyloid neuropathy ClinVar PMID:28492532 NCBI chr18:11,720,844...11,757,927
Ensembl chr18:11,720,975...11,756,234
JBrowse link
G F10 coagulation factor X ISO protein:decreased expression:plasma: RGD PMID:22624582 RGD:11041730 NCBI chr16:76,468,834...76,488,141
Ensembl chr16:76,468,838...76,488,141
JBrowse link
G F2 coagulation factor II, thrombin ISO protein:increased expression:plasma: RGD PMID:22624582 RGD:11041730 NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486
JBrowse link
G Mybpc3 myosin binding protein C3 ISO ClinVar Annotator: match by term: Familial amyloid neuropathy ClinVar PMID:11499719 PMID:12974739 PMID:15519027 PMID:17560888 PMID:22464770 More... NCBI chr 3:77,095,165...77,113,406
Ensembl chr 3:77,095,252...77,113,405
JBrowse link
G Myl3 myosin light chain 3 ISO ClinVar Annotator: match by term: Familial amyloid neuropathy ClinVar PMID:24033266 PMID:24510615 PMID:25741868 PMID:28492532 NCBI chr 8:110,738,669...110,744,814
Ensembl chr 8:110,738,661...110,744,816
JBrowse link
G Pkp2 plakophilin 2 ISO ClinVar Annotator: match by term: Familial amyloid neuropathy ClinVar PMID:25351510 PMID:25741868 PMID:28492532 PMID:28600387 PMID:30847666 NCBI chr11:84,661,783...84,727,730
Ensembl chr11:84,661,783...84,727,730
JBrowse link
G Tnni3 troponin I3, cardiac type ISO ClinVar Annotator: match by term: Familial amyloid neuropathy ClinVar PMID:11815426 PMID:12860912 PMID:15524171 PMID:15607392 PMID:18175163 More... NCBI chr 1:69,299,900...69,303,582
Ensembl chr 1:69,299,900...69,303,580
JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Familial amyloid neuropathy | ClinVar Annotator: match by term: Familial amyloid polyneuropathy ClinVar PMID:23861362 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 3:61,652,432...61,924,912
Ensembl chr 3:61,652,439...61,924,741
JBrowse link
G Ttr transthyretin ISO ClinVar Annotator: match by term: Familial amyloid neuropathy | ClinVar Annotator: match by term: Familial amyloid polyneuropathy
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:192115 PMID:1301926 PMID:1330202 PMID:1335038 PMID:1350083 More... RGD:1331525 NCBI chr18:11,941,791...11,951,008
Ensembl chr18:11,943,789...11,951,008
JBrowse link
Familial Amyloidosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoa1 apolipoprotein A1 ISO RGD PMID:22495291 RGD:7241855 NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035
JBrowse link
G Cst3 cystatin C ISO protein:missense mutation:cds:p.L68Q (human) RGD PMID:3517880 RGD:2314354 NCBI chr 3:136,336,923...136,340,796
Ensembl chr 3:136,336,920...136,340,822
JBrowse link
G Fga fibrinogen alpha chain ISO renal amyloidosis,OMIM:105200;DNA:point mutation:exon:p.R554L (human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:8097946 PMID:8639778 PMID:8097946 RGD:1601166 NCBI chr 2:168,374,120...168,381,523
Ensembl chr 2:168,374,120...168,381,528
JBrowse link
G Gsn gelsolin ISO DNA:point mutation: ;654G>A RGD PMID:2175344 RGD:1599858 NCBI chr 3:18,585,166...18,638,404
Ensembl chr 3:18,585,172...18,638,402
JBrowse link
G Lyz2 lysozyme 2 ISO RGD PMID:12675840 PMID:8464497 RGD:1599842, RGD:1599840 NCBI chr 7:52,906,810...52,912,154
Ensembl chr 7:52,906,811...52,912,106
JBrowse link
G Ret ret proto-oncogene ISO CTD Direct Evidence: marker/mechanism CTD PMID:12864791 NCBI chr 4:151,325,969...151,368,176
Ensembl chr 4:151,326,431...151,368,176
JBrowse link
G Ttr transthyretin ISO ClinVar Annotator: match by term: Hereditary amyloidosis
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:7914929 PMID:8081397 PMID:9748014 PMID:10694917 PMID:12039669 More... RGD:1580526, RGD:1331525 NCBI chr18:11,941,791...11,951,008
Ensembl chr18:11,943,789...11,951,008
JBrowse link
familial visceral amyloidosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoa1 apolipoprotein A1 ISO ClinVar Annotator: match by term: Amyloidosis, cardiac and cutaneous | ClinVar Annotator: match by term: Familial visceral amyloidosis
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:1502149 PMID:1901417 PMID:2108924 PMID:2123470 PMID:3141894 More... NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035
JBrowse link
G B2m beta-2 microglobulin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Familial visceral amyloidosis
OMIM
CTD
ClinVar
PMID:22693999 PMID:25702838 PMID:25741868 PMID:28492532 NCBI chr 3:109,095,740...109,101,764
Ensembl chr 3:109,095,729...109,101,766
JBrowse link
G Fga fibrinogen alpha chain ISO ClinVar Annotator: match by term: AFib amyloidosis | ClinVar Annotator: match by term: Amyloidosis 8 | ClinVar Annotator: match by term: Familial visceral amyloidosis
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:2738154 PMID:3345340 PMID:3590111 PMID:3618591 PMID:4052020 More... NCBI chr 2:168,374,120...168,381,523
Ensembl chr 2:168,374,120...168,381,528
JBrowse link
G Lyz2 lysozyme 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Familial visceral amyloidosis
OMIM
CTD
ClinVar
PMID:1808634 PMID:8464497 PMID:8566845 PMID:10534505 PMID:11849445 More... NCBI chr 7:52,906,810...52,912,154
Ensembl chr 7:52,906,811...52,912,106
JBrowse link
Finnish type amyloidosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gsn gelsolin ISO ClinVar Annotator: match by term: GSN-related condition | ClinVar Annotator: match by term: Meretoja syndrome
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:1311149 PMID:1315718 PMID:1322359 PMID:1322360 PMID:1338910 More... NCBI chr 3:18,585,166...18,638,404
Ensembl chr 3:18,585,172...18,638,402
JBrowse link
frontotemporal dementia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca7 ATP binding cassette subfamily A member 7 ISO ClinVar Annotator: match by term: Frontotemporal dementia ClinVar PMID:25741868 PMID:26101835 PMID:28097223 PMID:28400126 PMID:28789839 More... NCBI chr 7:9,691,452...9,711,466
Ensembl chr 7:9,691,449...9,711,425
JBrowse link
G Ang angiogenin ISO ClinVar Annotator: match by term: Frontotemporal dementia ClinVar PMID:25741868 PMID:28492532 NCBI chr15:24,312,711...24,323,361 JBrowse link
G Arsa arylsulfatase A ISO ClinVar Annotator: match by term: Frontotemporal dementia ClinVar PMID:1353340 PMID:10477432 PMID:12809637 PMID:16678723 PMID:18693274 More... NCBI chr 7:120,542,788...120,547,577
Ensembl chr 7:120,543,362...120,548,783
JBrowse link
G Bace2 beta-secretase 2 ISO mRNA,protein, activity:increased expression, increased activity:gyrus: RGD PMID:22074738 RGD:13782172 NCBI chr11:36,707,447...36,789,550
Ensembl chr11:36,707,458...36,789,546
JBrowse link
G Ccnf cyclin F ISO ClinVar Annotator: match by term: Frontotemporal dementia ClinVar NCBI chr10:13,253,073...13,279,140
Ensembl chr10:13,253,380...13,279,101
JBrowse link
G Chmp2b charged multivesicular body protein 2B no_association ISO
ISS
DNA:mutations:cds
DNA:mutations: :
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Frontotemporal dementia
OMIM:600274
CTD
ClinVar
MouseDO
RGD
PMID:16041373 PMID:25741868 PMID:26467025 PMID:28492532 PMID:16041373 More... RGD:5688398, RGD:5688716, RGD:5688721 NCBI chr11:3,337,478...3,364,015
Ensembl chr11:3,337,494...3,385,181
JBrowse link
G Chrna4 cholinergic receptor nicotinic alpha 4 subunit ISO ClinVar Annotator: match by term: Frontotemporal dementia ClinVar PMID:28492532 NCBI chr 3:168,136,246...168,157,839
Ensembl chr 3:168,136,266...168,156,957
JBrowse link
G Chrnb4 cholinergic receptor nicotinic beta 4 subunit ISO ClinVar Annotator: match by term: Frontotemporal dementia ClinVar NCBI chr 8:55,417,583...55,437,027
Ensembl chr 8:55,418,313...55,437,027
JBrowse link
G Crhr1 corticotropin releasing hormone receptor 1 ISO ClinVar Annotator: match by term: Frontotemporal dementia ClinVar PMID:18628315 PMID:21094706 PMID:28492532 NCBI chr10:89,040,186...89,083,481
Ensembl chr10:89,040,203...89,083,481
JBrowse link
G Csf1r colony stimulating factor 1 receptor ISO ClinVar Annotator: match by term: Frontotemporal dementia ClinVar PMID:25741868 PMID:26476772 PMID:28492532 PMID:31836585 NCBI chr18:54,546,673...54,590,418
Ensembl chr18:54,546,659...54,590,415
JBrowse link
G Dctn1 dynactin subunit 1 ISO ClinVar Annotator: match by term: Frontotemporal dementia ClinVar PMID:25741868 PMID:28492532 PMID:35873773 NCBI chr 4:115,671,024...115,703,824
Ensembl chr 4:115,661,638...115,703,815
JBrowse link
G Erbb4 erb-b2 receptor tyrosine kinase 4 ISO ClinVar Annotator: match by term: Frontotemporal dementia ClinVar PMID:28492532 PMID:35873773 NCBI chr 9:69,523,733...70,596,743
Ensembl chr 9:69,531,481...70,596,595
JBrowse link
G Fus Fus RNA binding protein ISO ClinVar Annotator: match by term: Frontotemporal dementia ClinVar PMID:22863194 PMID:25382069 PMID:25558820 PMID:25741868 PMID:26467025 More... NCBI chr 1:182,576,479...182,590,417
Ensembl chr 1:182,576,545...182,590,414
JBrowse link
G Glt8d1 glycosyltransferase 8 domain containing 1 ISO ClinVar Annotator: match by term: Frontotemporal dementia ClinVar NCBI chr16:6,192,269...6,207,227
Ensembl chr16:6,192,300...6,207,229
JBrowse link
G Grn granulin precursor ISO DNA:mutations, haploinsufficiency: :
DNA:missense mutation:signal peptide:p.A9D(human)
DNA:deletion: :g.102delC(humN)
DNA:deletion:exon:
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Dementia, hereditary dysphasic disinhibition | ClinVar Annotator: match by term: Frontotemporal dementia | ClinVar Annotator: match by term: GRN-Related Frontotemporal Dementia | ClinVar Annotator: match by term: Multiple system tauopathy with presenile dementia
CTD
ClinVar
RGD
PMID:9536098 PMID:16199547 PMID:16862116 PMID:16950801 PMID:17030534 More... RGD:5509588, RGD:5509589, RGD:5509602, RGD:5509609, RGD:5509612 NCBI chr10:87,387,672...87,393,777
Ensembl chr10:87,387,638...87,393,775
JBrowse link
G Hnrnpa2b1 heterogeneous nuclear ribonucleoprotein A2/B1 ISO ClinVar Annotator: match by term: Frontotemporal dementia ClinVar PMID:23455423 PMID:25741868 NCBI chr 4:80,534,659...80,545,297
Ensembl chr 4:80,534,651...80,545,249
JBrowse link
G Kansl1 KAT8 regulatory NSL complex subunit 1 ISO ClinVar Annotator: match by term: Frontotemporal dementia ClinVar PMID:18628315 PMID:21094706 PMID:28492532 NCBI chr10:89,237,667...89,368,735
Ensembl chr10:89,237,667...89,366,951
JBrowse link
G Lrrk2 leucine-rich repeat kinase 2 ISO ClinVar Annotator: match by term: Frontotemporal dementia ClinVar
RGD
PMID:17639429 RGD:5508418 NCBI chr 7:122,826,696...122,987,711
Ensembl chr 7:122,826,696...122,987,703
JBrowse link
G Mapt microtubule-associated protein tau no_association ISO DNA:missense mutations, splice site mutations:exon, intron:multiple
DNA:haplotype
DNA:mutation:splice junction: IVS10+16C>T(human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: FTLD WITH TAU INCLUSIONS | ClinVar Annotator: match by term: Frontotemporal dementia | ClinVar Annotator: match by term: Multiple system tauopathy with presenile dementia
CTD
ClinVar
OMIM
RGD
PMID:1416801 PMID:2273997 PMID:7783864 PMID:7936288 PMID:7977375 More... RGD:1302531, RGD:8158108, RGD:10412699, RGD:10412702 NCBI chr10:89,138,644...89,236,137
Ensembl chr10:89,138,627...89,236,129
JBrowse link
G Marchf4 membrane associated ring-CH-type finger 4 ISO ClinVar Annotator: match by term: Frontotemporal dementia ClinVar PMID:29476165 NCBI chr 9:74,078,437...74,196,070
Ensembl chr 9:74,078,434...74,198,199
JBrowse link
G Masp2 MBL associated serine protease 2 ISO ClinVar Annotator: match by term: Multiple system tauopathy with presenile dementia ClinVar PMID:24033266 PMID:28492532 NCBI chr 5:159,035,892...159,049,561
Ensembl chr 5:159,035,911...159,049,580
JBrowse link
G Mef2c myocyte enhancer factor 2C ISO ClinVar Annotator: match by term: Frontotemporal dementia ClinVar NCBI chr 2:13,973,299...14,136,065
Ensembl chr 2:13,993,438...14,132,880
JBrowse link
G Mobp myelin-associated oligodendrocyte basic protein disease_progression ISO DNA:SNP: :rs1768208(human) RGD PMID:24994843 RGD:27226701 NCBI chr 8:119,869,504...119,899,605
Ensembl chr 8:119,869,626...119,899,563
JBrowse link
G Nefl neurofilament light chain ISO protein:increased expression:CSF (human) RGD PMID:29391125 RGD:127285384 NCBI chr15:42,301,920...42,305,793
Ensembl chr15:42,301,916...42,305,793
JBrowse link
G Optn optineurin ISO ClinVar Annotator: match by term: Frontotemporal dementia ClinVar NCBI chr17:73,209,572...73,260,251
Ensembl chr17:73,209,575...73,260,251
JBrowse link
G Pou1f1 POU class 1 homeobox 1 ISO ClinVar Annotator: match by term: Frontotemporal dementia ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr11:3,316,818...3,334,804
Ensembl chr11:3,317,058...3,334,801
JBrowse link
G Prkn parkin RBR E3 ubiquitin protein ligase disease_progression ISO RGD PMID:18817929 RGD:10412726 NCBI chr 1:48,688,651...49,882,520
Ensembl chr 1:48,690,556...49,882,555
JBrowse link
G Psen1 presenilin 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: FTLD WITH TAU INCLUSIONS | ClinVar Annotator: match by term: Frontotemporal dementia | ClinVar Annotator: match by term: Multiple system tauopathy with presenile dementia
OMIM
CTD
ClinVar
PMID:7596406 PMID:7623585 PMID:8538334 PMID:8634712 PMID:8733303 More... NCBI chr 6:103,323,052...103,375,088
Ensembl chr 6:103,323,120...103,371,650
JBrowse link
G Rnase4 ribonuclease A family member 4 ISO ClinVar Annotator: match by term: Frontotemporal dementia ClinVar PMID:25741868 PMID:28492532 NCBI chr15:24,312,765...24,330,112
Ensembl chr15:24,312,464...24,330,117
JBrowse link
G Setx senataxin ISO ClinVar Annotator: match by term: Frontotemporal dementia ClinVar PMID:26467025 PMID:28492532 NCBI chr 3:12,428,091...12,480,801
Ensembl chr 3:12,427,635...12,480,803
JBrowse link
G Sppl2c signal peptide peptidase like 2C ISO ClinVar Annotator: match by term: Frontotemporal dementia ClinVar PMID:18628315 PMID:21094706 PMID:28492532 NCBI chr10:89,095,279...89,097,487
Ensembl chr10:89,095,261...89,098,580
JBrowse link
G Tardbp TAR DNA binding protein ISS
ISO
OMIM:600274 | OMIM:600795
ClinVar Annotator: match by term: Frontotemporal dementia | ClinVar Annotator: match by term: Multiple system tauopathy with presenile dementia
MouseDO
ClinVar
PMID:19411082 PMID:20082726 PMID:20675015 PMID:20708823 PMID:22575358 More... NCBI chr 5:159,050,518...159,062,218
Ensembl chr 5:159,051,799...159,062,055
JBrowse link
G Tm2d3 TM2 domain containing 3 ISO ClinVar Annotator: match by term: Frontotemporal dementia ClinVar PMID:25741868 NCBI chr 1:119,267,194...119,277,094
Ensembl chr 1:119,264,576...119,277,099
JBrowse link
G Tnk1 tyrosine kinase, non-receptor, 1 ISO ClinVar Annotator: match by term: Frontotemporal dementia ClinVar PMID:25741868 NCBI chr10:54,571,396...54,580,547
Ensembl chr10:54,571,117...54,579,940
JBrowse link
G Trem2 triggering receptor expressed on myeloid cells 2 ISS
ISO
OMIM:600274 | OMIM:600795
ClinVar Annotator: match by term: Frontotemporal dementia
MouseDO
ClinVar
PMID:23582655 PMID:24119542 PMID:25186855 PMID:25741868 PMID:28492532 More... NCBI chr 9:12,647,605...12,654,190
Ensembl chr 9:12,647,259...12,654,170
JBrowse link
G Vcp valosin-containing protein ISS OMIM:600274 MouseDO NCBI chr 5:57,210,167...57,229,571
Ensembl chr 5:57,210,168...57,229,571
JBrowse link
G Vps13c vacuolar protein sorting 13 homolog C ISO ClinVar Annotator: match by term: Frontotemporal dementia ClinVar PMID:25741868 PMID:26942284 PMID:28492532 PMID:29770609 PMID:31836585 More... NCBI chr 8:68,478,366...68,651,893
Ensembl chr 8:68,478,395...68,651,895
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 8:71,346,008...71,477,889
Ensembl chr 8:71,345,837...71,477,889
JBrowse link
G RGD1359108 similar to RIKEN cDNA 3110043O21 ISO ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis/Frontotemporal Dementia ClinVar NCBI chr 5:49,766,340...49,791,434
Ensembl chr 5:49,766,325...49,791,408
JBrowse link
G Ttc3 tetratricopeptide repeat domain 3 ISO ClinVar Annotator: match by term: Corticobasal syndrome ClinVar PMID:25741868 NCBI chr11:33,689,119...33,788,976
Ensembl chr11:33,688,952...33,788,975
JBrowse link
frontotemporal dementia and/or amyotrophic lateral sclerosis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamts2 ADAM metallopeptidase with thrombospondin type 1 motif, 2 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ClinVar PMID:26925868 PMID:28492532 NCBI chr10:34,920,992...35,126,465
Ensembl chr10:34,921,049...35,123,821
JBrowse link
G Canx calnexin ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ClinVar PMID:26925868 PMID:28492532 NCBI chr10:34,623,865...34,656,866
Ensembl chr10:34,625,191...34,656,821
JBrowse link
G Cby3 chibby family member 3