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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:frontotemporal dementia
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Accession:DOID:9255 term browser browse the term
Definition:A dementia characterized by progressive neuronal loss predominantly involving the frontal and/or temporal lobes of the brain resulting in a gradual and progressive decline in behavior or language. (DO)
Synonyms:exact_synonym: DDPAC;   Disinhibition Dementia Parkinsonism Amytrophy Complex;   FLDEM;   FRONTOTEMPORAL LOBAR DEGENERATION WITH TAU INCLUSIONS;   FTD;   FTD-GRN;   FTD-PGRN;   FTDP-17;   FTDP17;   FTLD WITH TAU INCLUSIONS;   FTLD with TDP 43 Pathology;   FTLD-17 GRN;   FTLD-TDP;   Familial Pick Disease;   Familial Pick's Disease;   Familial Picks Disease;   Frontotemporal Dementia with Parkinsonism;   Frontotemporal Dementia with Parkinsonism 17;   Frontotemporal Lobe Dementia;   Frontotemporal Lobe Dementia (FLDEM);   Frontotemporal Lobe Dementias;   Frontotemporal Lobe Dementias (FLDEM);   GRN Related Frontotemporal Dementia;   GRN-Related Frontotemporal Dementias;   HDDD1;   HDDD2;   Hereditary Dysphasic Disinhibition Dementia;   MSTD;   WLD;   Wilhelmsen Lynch disease;   Wilhelmsen-Lynch diseases;   Wilhemsen-Lynch disease;   disinhibition dementia parkinsonism amyotrophy complex;   familial Pick's diseases;   frontotemporal dementias;   multiple system tauopathy with presenile dementia;   semantic dementia;   semantic dementias
 narrow_synonym: PALLIDOPONTONIGRAL DEGENERATION;   PPND PICK COMPLEX
 primary_id: MESH:D057180
 alt_id: OMIM:600274
 xref: GARD:8436;   MONDO:0017276;   NCI:C84719;   ORDO:282


show annotations for term's descendants           Sort by:
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:20138404 PMID:22863194 PMID:25382069 PMID:25558820 PMID:25741868 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 | ClinVar Annotator: match by term: Semantic 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
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 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 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
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 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ClinVar PMID:26925868 PMID:28492532 NCBI chr10:34,680,926...34,683,176
Ensembl chr10:34,677,770...34,682,784 		JBrowse link
G Grm6 glutamate metabotropic receptor 6 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ClinVar PMID:26925868 PMID:28492532 NCBI chr10:35,167,985...35,182,717
Ensembl chr10:35,167,985...35,182,717 		JBrowse link
G Hnrnph1 heterogeneous nuclear ribonucleoprotein H1 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ClinVar PMID:26925868 PMID:28492532 NCBI chr10:34,692,868...34,702,849
Ensembl chr10:34,693,555...34,702,846 		JBrowse link
G Ltc4s leukotriene C4 synthase ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ClinVar PMID:26925868 PMID:28492532 NCBI chr10:34,560,476...34,562,790
Ensembl chr10:34,560,360...34,562,651 		JBrowse link
G Maml1 mastermind-like transcriptional coactivator 1 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ClinVar PMID:26925868 PMID:28492532 NCBI chr10:34,588,639...34,623,024
Ensembl chr10:34,588,646...34,623,338 		JBrowse link
G Mgat4b alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase B ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ClinVar PMID:26925868 PMID:28492532 NCBI chr10:34,548,918...34,559,229
Ensembl chr10:34,549,433...34,559,229 		JBrowse link
G RGD1359108 similar to RIKEN cDNA 3110043O21 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1		 OMIM
CTD
ClinVar		 PMID:25741868 PMID:26769963 PMID:28492532 NCBI chr 5:49,766,340...49,791,434
Ensembl chr 5:49,766,325...49,791,408 		JBrowse link
G Rufy1 RUN and FYVE domain containing 1 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ClinVar PMID:26925868 PMID:28492532 NCBI chr10:34,705,741...34,750,644
Ensembl chr10:34,705,741...34,750,644 		JBrowse link
G Spata31d1c spermatogenesis associated 31 subfamily D, member 1C ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ClinVar PMID:26925868 PMID:28492532 NCBI chr17:159,402...164,239
Ensembl chr17:159,398...164,270 		JBrowse link
G Sqstm1 sequestosome 1 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ClinVar PMID:9536098 PMID:11473345 PMID:11992264 PMID:12374763 PMID:14584883 More... NCBI chr10:34,525,517...34,536,670
Ensembl chr10:34,525,519...34,536,673 		JBrowse link
G Zfp354c zinc finger protein 354C ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ClinVar PMID:26925868 PMID:28492532 NCBI chr10:35,129,720...35,145,717
Ensembl chr10:35,132,959...35,145,661 		JBrowse link
G Zfp879 zinc finger protein 879 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ClinVar PMID:26925868 PMID:28492532 NCBI chr10:35,148,679...35,158,674
Ensembl chr10:35,148,679...35,158,674 		JBrowse link
frontotemporal dementia and/or amyotrophic lateral sclerosis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C20h22orf15 similar to human chromosome 22 open reading frame 15 ISO ClinVar Annotator: match by term: FTDALS2 ClinVar PMID:28492532 NCBI chr20:12,723,160...12,725,864
Ensembl chr20:12,723,160...12,726,059 		JBrowse link
G Chchd10 coiled-coil-helix-coiled-coil-helix domain containing 10 ISO ClinVar Annotator: match by term: FTDALS2 | ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 2
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:17576681 PMID:22535186 PMID:24934289 PMID:25113787 More... NCBI chr20:12,725,839...12,727,638
Ensembl chr20:12,725,842...12,732,763 		JBrowse link
frontotemporal dementia and/or amyotrophic lateral sclerosis 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sqstm1 sequestosome 1 ISO ClinVar Annotator: match by term: FTDALS3 | ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 3
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:11473345 PMID:11992264 PMID:14584883 PMID:15125799 PMID:15176995 More... NCBI chr10:34,525,517...34,536,670
Ensembl chr10:34,525,519...34,536,673 		JBrowse link
frontotemporal dementia and/or amyotrophic lateral sclerosis 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kif5a kinesin family member 5A ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ClinVar PMID:25741868 PMID:28492532 PMID:32579787 NCBI chr 7:63,051,894...63,089,024
Ensembl chr 7:63,049,424...63,092,858 		JBrowse link
G Tbk1 TANK-binding kinase 1 susceptibility ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: FTDALS4 | ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 4		 CTD
OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:21447600 PMID:22851595 More... NCBI chr 7:57,077,830...57,110,868
Ensembl chr 7:57,077,830...57,110,892 		JBrowse link
frontotemporal dementia and/or amyotrophic lateral sclerosis 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aptx aprataxin ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:55,798,896...55,822,963
Ensembl chr 5:55,800,248...55,822,855 		JBrowse link
G Aqp3 aquaporin 3 (Gill blood group) ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:56,239,200...56,244,718
Ensembl chr 5:56,239,201...56,244,720 		JBrowse link
G Aqp7 aquaporin 7 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:56,171,649...56,186,642
Ensembl chr 5:56,172,519...56,186,642 		JBrowse link
G Arhgef39 Rho guanine nucleotide exchange factor 39 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:57,752,509...57,756,079
Ensembl chr 5:57,752,509...57,756,109 		JBrowse link
G Arid3c AT-rich interaction domain 3C ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:56,889,649...56,896,959
Ensembl chr 5:56,890,042...56,895,888 		JBrowse link
G Atosb atos homolog B ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:57,260,839...57,274,524
Ensembl chr 5:57,260,841...57,268,892 		JBrowse link
G B4galt1 beta-1,4-galactosyltransferase 1 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:55,935,614...55,982,461
Ensembl chr 5:55,935,615...55,982,461 		JBrowse link
G Bag1 BAG cochaperone 1 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:56,068,494...56,081,075
Ensembl chr 5:56,068,494...56,081,075 		JBrowse link
G Car9 carbonic anhydrase 9 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:57,763,234...57,769,838
Ensembl chr 5:57,763,206...57,769,838 		JBrowse link
G Ccdc107 coiled-coil domain containing 107 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:57,749,502...57,752,920
Ensembl chr 5:57,748,999...57,752,918 		JBrowse link
G Ccin calicin ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:58,206,676...58,208,563
Ensembl chr 5:58,206,633...58,208,951 		JBrowse link
G Ccl19 C-C motif chemokine ligand 19 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:56,963,364...56,965,308
Ensembl chr 5:56,963,364...56,965,308 		JBrowse link
G Ccl21 C-C motif chemokine ligand 21 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:56,980,557...56,981,661
Ensembl chr 5:56,980,558...56,981,686 		JBrowse link
G Ccl27 C-C motif chemokine ligand 27 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:56,941,402...56,948,511
Ensembl chr 5:56,941,402...56,948,506 		JBrowse link
G Cd72 Cd72 molecule ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:57,697,361...57,704,980
Ensembl chr 5:57,697,367...57,704,725 		JBrowse link
G Chmp5 charged multivesicular body protein 5 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:56,081,385...56,098,529
Ensembl chr 5:56,081,343...56,098,529 		JBrowse link
G Cimip2b ciliary microtubule inner protein 2B ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:57,675,537...57,680,133
Ensembl chr 5:57,675,462...57,678,611 		JBrowse link
G Clta clathrin, light chain A ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:58,244,253...58,263,480
Ensembl chr 5:58,245,442...58,263,472 		JBrowse link
G Cntfr ciliary neurotrophic factor receptor ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:56,823,448...56,861,049
Ensembl chr 5:56,823,965...56,841,392 		JBrowse link
G Creb3 cAMP responsive element binding protein 3 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:57,817,865...57,823,233
Ensembl chr 5:57,817,832...57,824,390 		JBrowse link
G Dcaf12 DDB1 and CUL4 associated factor 12 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:56,460,418...56,482,171
Ensembl chr 5:56,461,006...56,482,456 		JBrowse link
G Dctn3 dynactin subunit 3 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:56,881,085...56,889,041
Ensembl chr 5:56,881,085...56,889,102 		JBrowse link
G Dnai1 dynein, axonemal, intermediate chain 1 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:56,730,179...56,800,926
Ensembl chr 5:56,730,179...56,800,925 		JBrowse link
G Dnaja1 DnaJ heat shock protein family (Hsp40) member A1 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:55,842,414...55,853,326
Ensembl chr 5:55,842,426...55,853,967 		JBrowse link
G Dnajb5 DnaJ heat shock protein family (Hsp40) member B5 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:57,176,840...57,186,067
Ensembl chr 5:57,176,845...57,185,490 		JBrowse link
G Enho energy homeostasis associated ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:56,800,980...56,802,777
Ensembl chr 5:56,800,980...56,802,777 		JBrowse link
G Exosc3 exosome component 3 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:59,573,849...59,579,065
Ensembl chr 5:59,573,886...59,579,060 		JBrowse link
G Fam219a family with sequence similarity 219, member A ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:56,679,272...56,729,959
Ensembl chr 5:56,680,613...56,729,924 		JBrowse link
G Fam221b family with sequence similarity 221, member B ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:57,910,346...57,919,562
Ensembl chr 5:57,910,352...57,919,367 		JBrowse link
G Fancg FA complementation group G ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:57,230,287...57,240,067
Ensembl chr 5:57,231,685...57,240,029 		JBrowse link
G Fbxo10 F-box protein 10 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:59,297,016...59,343,429
Ensembl chr 5:59,297,045...59,343,348 		JBrowse link
G Frmpd1 FERM and PDZ domain containing 1 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:59,443,076...59,545,125
Ensembl chr 5:59,443,076...59,545,080 		JBrowse link
G Galt galactose-1-phosphate uridylyltransferase ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:56,927,039...56,930,284
Ensembl chr 5:56,926,724...56,930,265 		JBrowse link
G Gba2 glucosylceramidase beta 2 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:57,822,389...57,834,522
Ensembl chr 5:57,822,389...57,834,072 		JBrowse link
G Glipr2 GLI pathogenesis-related 2 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:58,170,417...58,202,258
Ensembl chr 5:58,170,425...58,202,272 		JBrowse link
G Gne glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:58,267,189...58,307,396
Ensembl chr 5:58,267,210...58,307,499 		JBrowse link
G Grhpr glyoxylate and hydroxypyruvate reductase ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:59,234,179...59,243,614
Ensembl chr 5:59,234,192...59,243,603 		JBrowse link
G Hint2 histidine triad nucleotide binding protein 2 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:57,904,613...57,906,868
Ensembl chr 5:57,904,614...57,907,097 		JBrowse link
G Hrct1 histidine rich carboxyl terminus 1 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:57,982,344...57,983,186
Ensembl chr 5:57,982,470...57,982,790 		JBrowse link
G Il11ra1 interleukin 11 receptor subunit alpha 1 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:56,931,824...56,941,408
Ensembl chr 5:56,935,516...56,941,408 		JBrowse link
G Kif24 kinesin family member 24 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:56,561,019...56,628,040
Ensembl chr 5:56,561,154...56,628,025 		JBrowse link
G Melk maternal embryonic leucine zipper kinase ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:58,540,393...58,600,562
Ensembl chr 5:58,540,449...58,600,937 		JBrowse link
G Msmp microseminoprotein, prostate associated ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:57,838,935...57,839,985
Ensembl chr 5:57,838,935...57,839,985 		JBrowse link
G Myorg myogenesis regulating glycosidase ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:56,654,257...56,664,467
Ensembl chr 5:56,648,643...56,664,440 		JBrowse link
G Ndufb6 NADH:ubiquinone oxidoreductase subunit B6 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:55,400,543...55,410,110
Ensembl chr 5:55,400,543...55,410,181 		JBrowse link
G Nfx1 nuclear transcription factor, X-box binding 1 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:56,104,945...56,162,912
Ensembl chr 5:56,105,234...56,162,912 		JBrowse link
G Nol6 nucleolar protein 6 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:56,259,919...56,270,540
Ensembl chr 5:56,260,830...56,270,336 		JBrowse link
G Npr2 natriuretic peptide receptor 2 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:57,883,171...57,901,590
Ensembl chr 5:57,883,171...57,901,580 		JBrowse link
G Nudt2 nudix hydrolase 2 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:56,628,265...56,643,104
Ensembl chr 5:56,628,265...56,643,104 		JBrowse link
G Or13c7 olfactory receptor family 13 subfamily C member 7 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:58,081,150...58,082,109
Ensembl chr 5:58,077,726...58,083,852 		JBrowse link
G Or13j1 olfactory receptor family 13 subfamily J member 1 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:57,961,391...57,962,329
Ensembl chr 5:57,960,219...57,965,853 		JBrowse link
G Pax5 paired box 5 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:58,763,334...58,945,719
Ensembl chr 5:58,765,036...58,944,326 		JBrowse link
G Phf24 PHD finger protein 24 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:57,143,428...57,171,054
Ensembl chr 5:57,142,632...57,168,497 		JBrowse link
G Pigo phosphatidylinositol glycan anchor biosynthesis, class O ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:57,244,721...57,256,252
Ensembl chr 5:57,245,166...57,254,146 		JBrowse link
G Polr1e RNA polymerase I subunit E ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:59,279,456...59,295,346
Ensembl chr 5:59,279,460...59,295,369 		JBrowse link
G Prss3 serine protease 3 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 4:70,203,088...70,206,562
Ensembl chr 4:70,203,088...70,206,562 		JBrowse link
G Reck reversion-inducing-cysteine-rich protein with kazal motifs ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:58,102,961...58,169,516
Ensembl chr 5:58,102,981...58,169,502 		JBrowse link
G Rgp1 RGP1 homolog, RAB6A GEF complex partner 1 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:57,834,467...57,843,087
Ensembl chr 5:57,834,629...57,843,086 		JBrowse link
G Rig1 RNA sensor RIG-1 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:55,321,351...55,369,947
Ensembl chr 5:55,321,235...55,370,819 		JBrowse link
G Rnf38 ring finger protein 38 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:58,358,771...58,467,424
Ensembl chr 5:58,361,976...58,467,446 		JBrowse link
G Rpp25l ribonuclease P/MRP subunit p25 like ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:56,878,420...56,879,956
Ensembl chr 5:56,876,316...56,880,013 		JBrowse link
G Rusc2 RUN and SH3 domain containing 2 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:57,628,397...57,675,524
Ensembl chr 5:57,629,904...57,675,524 		JBrowse link
G Sigmar1 sigma non-opioid intracellular receptor 1 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:56,904,155...56,907,012
Ensembl chr 5:56,904,159...56,907,017 		JBrowse link
G Sit1 signaling threshold regulating transmembrane adaptor 1 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:57,740,212...57,741,838
Ensembl chr 5:57,740,218...57,741,838 		JBrowse link
G Smu1 SMU1, DNA replication regulator and spliceosomal factor ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:55,856,691...55,875,262
Ensembl chr 5:55,856,246...55,875,300 		JBrowse link
G Spag8 sperm associated antigen 8 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:57,901,681...57,903,894
Ensembl chr 5:57,901,682...57,903,894 		JBrowse link
G Spata31f1 SPATA31 subfamily F member 1 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:57,065,743...57,071,880
Ensembl chr 5:57,065,747...57,071,738 		JBrowse link
G Spata31g1 SPATA31 subfamily G member 1 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:57,199,980...57,204,069
Ensembl chr 5:57,200,000...57,204,070 		JBrowse link
G Spink4 serine peptidase inhibitor, Kazal type 4 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:56,043,936...56,064,841
Ensembl chr 5:55,981,624...56,064,795 		JBrowse link
G Spmip6 sperm microtubule inner protein 6 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:56,666,160...56,678,865
Ensembl chr 5:56,666,058...56,678,923 		JBrowse link
G Stoml2 stomatin like 2 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:57,256,227...57,259,824
Ensembl chr 5:57,256,220...57,259,920 		JBrowse link
G Tesk1 testis associated actin remodelling kinase 1 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:57,691,922...57,697,698
Ensembl chr 5:57,691,969...57,697,698 		JBrowse link
G Tln1 talin 1 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:57,787,670...57,817,900
Ensembl chr 5:57,787,943...57,817,900 		JBrowse link
G Tmem215 transmembrane protein 215 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:55,612,568...55,615,828
Ensembl chr 5:55,612,568...55,615,828 		JBrowse link
G Tmem8b transmembrane protein 8B ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:57,919,473...57,948,419
Ensembl chr 5:57,919,804...57,946,772 		JBrowse link
G Tomm5 translocase of outer mitochondrial membrane 5 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:59,362,360...59,365,191
Ensembl chr 5:59,362,240...59,365,269 		JBrowse link
G Topors TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:55,388,033...55,399,937
Ensembl chr 5:55,387,632...55,399,937 		JBrowse link
G Tpm2 tropomyosin 2 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:57,770,919...57,780,278
Ensembl chr 5:57,770,864...57,779,992 		JBrowse link
G Trmt10b tRNA methyltransferase 10B ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:59,548,845...59,572,529
Ensembl chr 5:59,548,869...59,572,526 		JBrowse link
G Ubap1 ubiquitin-associated protein 1 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:56,520,722...56,561,153
Ensembl chr 5:56,520,743...56,561,152 		JBrowse link
G Ubap2 ubiquitin-associated protein 2 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:56,348,243...56,437,403
Ensembl chr 5:56,348,246...56,437,049 		JBrowse link
G Ube2r2 ubiquitin-conjugating enzyme E2R 2 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:56,286,604...56,345,160
Ensembl chr 5:56,286,725...56,345,513 		JBrowse link
G Unc13b unc-13 homolog B ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:57,288,999...57,504,110
Ensembl chr 5:57,289,227...57,502,926 		JBrowse link
G Vcp valosin-containing protein ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia | ClinVar Annotator: match by term: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 6 | ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:7182974 PMID:9536098 PMID:12446676 PMID:15034582 PMID:16247064 More... NCBI chr 5:57,210,167...57,229,571
Ensembl chr 5:57,210,168...57,229,571 		JBrowse link
G Zbtb5 zinc finger and BTB domain containing 5 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:59,244,132...59,265,461
Ensembl chr 5:59,243,307...59,265,426 		JBrowse link
G Zcchc7 zinc finger CCHC-type containing 7 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:58,992,558...59,173,308
Ensembl chr 5:58,993,290...59,173,300 		JBrowse link
frontotemporal dementia and/or amyotrophic lateral sclerosis 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chmp2b charged multivesicular body protein 2B ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CHMP2B-related condition | ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 7		 OMIM
CTD
ClinVar		 PMID:9536098 PMID:16041373 PMID:16431024 PMID:16807408 PMID:16941655 More... NCBI chr11:3,337,478...3,364,015
Ensembl chr11:3,337,494...3,385,181 		JBrowse link
G Pou1f1 POU class 1 homeobox 1 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 ClinVar PMID:28492532 NCBI chr11:3,316,818...3,334,804
Ensembl chr11:3,317,058...3,334,801 		JBrowse link
Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis-5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccnf cyclin F ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 5 OMIM
ClinVar		 PMID:25741868 PMID:27080313 PMID:28281833 PMID:31577344 NCBI chr10:13,253,073...13,279,140
Ensembl chr10:13,253,380...13,279,101 		JBrowse link
Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis-8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyld CYLD lysine 63 deubiquitinase ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 OMIM
ClinVar		 PMID:10835629 PMID:19462465 PMID:23338750 PMID:24728327 PMID:25741868 More... NCBI chr19:18,310,632...18,373,696
Ensembl chr19:18,314,019...18,373,658 		JBrowse link
GRN-related frontotemporal lobar degeneration with TDP43 inclusions term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Asb16 ankyrin repeat and SOCS box-containing 16 ISO ClinVar Annotator: match by term: GRN-related frontotemporal lobar degeneration with Tdp43 inclusions ClinVar PMID:28492532 NCBI chr10:87,225,976...87,233,078
Ensembl chr10:87,225,912...87,233,078 		JBrowse link
G Atxn7l3 ataxin 7-like 3 ISO ClinVar Annotator: match by term: GRN-related frontotemporal lobar degeneration with Tdp43 inclusions ClinVar PMID:28492532 NCBI chr10:87,242,843...87,250,186
Ensembl chr10:87,243,587...87,250,620 		JBrowse link
G G6pc3 glucose 6 phosphatase catalytic subunit 3 ISO ClinVar Annotator: match by term: GRN-related frontotemporal lobar degeneration with Tdp43 inclusions ClinVar PMID:28492532 NCBI chr10:87,146,987...87,151,223
Ensembl chr10:87,146,901...87,151,221 		JBrowse link
G Grn granulin precursor ISO
ISS		 ClinVar Annotator: match by term: GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
OMIM:607485
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:6497355 PMID:9152110 PMID:9259373 PMID:9536098 PMID:9633693 More... RGD:5509604 NCBI chr10:87,387,672...87,393,777
Ensembl chr10:87,387,638...87,393,775 		JBrowse link
G Hdac5 histone deacetylase 5 ISO ClinVar Annotator: match by term: GRN-related frontotemporal lobar degeneration with Tdp43 inclusions ClinVar PMID:28492532 NCBI chr10:87,152,978...87,187,921
Ensembl chr10:87,152,978...87,188,235 		JBrowse link
G Hrob homologous recombination factor with OB-fold ISO ClinVar Annotator: match by term: GRN-related frontotemporal lobar degeneration with Tdp43 inclusions ClinVar PMID:28492532 NCBI chr10:87,206,017...87,222,483
Ensembl chr10:87,206,049...87,222,483 		JBrowse link
G Lsm12 LSM12 homolog ISO ClinVar Annotator: match by term: GRN-related frontotemporal lobar degeneration with Tdp43 inclusions ClinVar PMID:28492532 NCBI chr10:87,118,334...87,140,395
Ensembl chr10:87,118,416...87,140,396 		JBrowse link
G Rundc3a RUN domain containing 3A ISO ClinVar Annotator: match by term: GRN-related frontotemporal lobar degeneration with Tdp43 inclusions ClinVar PMID:28492532 NCBI chr10:87,352,624...87,361,767
Ensembl chr10:87,352,646...87,361,765 		JBrowse link
G Slc25a39 solute carrier family 25, member 39 ISO ClinVar Annotator: match by term: GRN-related frontotemporal lobar degeneration with Tdp43 inclusions ClinVar PMID:28492532 NCBI chr10:87,362,494...87,367,358
Ensembl chr10:87,362,490...87,367,260 		JBrowse link
G Slc4a1 solute carrier family 4 member 1 (Diego blood group) ISO ClinVar Annotator: match by term: GRN-related frontotemporal lobar degeneration with Tdp43 inclusions ClinVar PMID:28492532 NCBI chr10:87,306,865...87,323,132
Ensembl chr10:87,306,872...87,323,117 		JBrowse link
G Tardbp TAR DNA binding protein ISS OMIM:607485 MouseDO NCBI chr 5:159,050,518...159,062,218
Ensembl chr 5:159,051,799...159,062,055 		JBrowse link
G Tmub2 transmembrane and ubiquitin-like domain containing 2 ISO ClinVar Annotator: match by term: GRN-related frontotemporal lobar degeneration with Tdp43 inclusions ClinVar PMID:28492532 NCBI chr10:87,238,543...87,242,968
Ensembl chr10:87,238,548...87,242,779 		JBrowse link
G Ubtf upstream binding transcription factor ISO ClinVar Annotator: match by term: GRN-related frontotemporal lobar degeneration with Tdp43 inclusions ClinVar PMID:28492532 NCBI chr10:87,258,217...87,274,291
Ensembl chr10:87,258,217...87,272,969 		JBrowse link
inclusion body myopathy and brain white matter abnormalities 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: Inclusion body myopathy and brain white matter abnormalities OMIM
ClinVar		 PMID:25741868 PMID:28469040 PMID:28492532 PMID:29845112 PMID:33087501 More... NCBI chr16:1,412,373...1,457,814
Ensembl chr16:1,410,756...1,457,797 		JBrowse link
inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vcp valosin-containing protein ISO ClinVar Annotator: match by term: Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 | ClinVar Annotator: match by term: MULTISYSTEM PROTEINOPATHY 1 OMIM
ClinVar		 PMID:7182974 PMID:15034582 PMID:16247064 PMID:16321991 PMID:16790606 More... NCBI chr 5:57,210,167...57,229,571
Ensembl chr 5:57,210,168...57,229,571 		JBrowse link
inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hnrnpa2b1 heterogeneous nuclear ribonucleoprotein A2/B1 ISO ClinVar Annotator: match by term: Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2
ClinVar Annotator: match by term: Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 | ClinVar Annotator: match by term: MULTISYSTEM PROTEINOPATHY 2		 OMIM
ClinVar		 PMID:9536098 PMID:11891683 PMID:16199547 PMID:17576681 PMID:23455423 More... NCBI chr 4:80,534,659...80,545,297
Ensembl chr 4:80,534,651...80,545,249 		JBrowse link
inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hnrnpa1 heterogeneous nuclear ribonucleoprotein A1 ISO ClinVar Annotator: match by term: Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3 OMIM
ClinVar		 PMID:20116073 PMID:23455423 PMID:25616961 PMID:25741868 NCBI chr 7:134,375,318...134,381,610
Ensembl chr 7:134,375,150...134,381,609 		JBrowse link
inclusion body myopathy with Paget disease of bone and frontotemporal dementia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Egf epidermal growth factor ISO protein:increased expression:plasma RGD PMID:24119107 RGD:10059681 NCBI chr 2:218,219,408...218,302,359
Ensembl chr 2:218,219,415...218,302,064 		JBrowse link
G Hnrnpa1 heterogeneous nuclear ribonucleoprotein A1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Inclusion body myopathy with Paget disease of bone and frontotemporal dementia		 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
G Hnrnpa2b1 heterogeneous nuclear ribonucleoprotein A2/B1 ISO DNA:missense mutation:cds:p.D290V (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:23455423 RGD:10395280 NCBI chr 4:80,534,659...80,545,297
Ensembl chr 4:80,534,651...80,545,249 		JBrowse link
G Tnf tumor necrosis factor ISO protein:increased expression:plasma RGD PMID:24119107 RGD:10059681 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629 		JBrowse link
G Vcp valosin-containing protein ISO
ISS		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Inclusion body myopathy with Paget disease of bone and frontotemporal dementia | ClinVar Annotator: match by term: Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia		 CTD
ClinVar
MouseDO		 PMID:7182974 PMID:9536098 PMID:15034582 PMID:16247064 PMID:16321991 More... NCBI chr 5:57,210,167...57,229,571
Ensembl chr 5:57,210,168...57,229,571 		JBrowse link
Pick's disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atf2 activating transcription factor 2 ISO RGD PMID:16496165 RGD:10047401 NCBI chr 3:58,718,323...58,795,280
Ensembl chr 3:58,718,332...58,795,236 		JBrowse link
G Creb1 cAMP responsive element binding protein 1 ISO protein:decreased expression:frontal cortex RGD PMID:16496165 PMID:17548164 RGD:10047401, RGD:10047402 NCBI chr 9:65,903,511...65,972,562
Ensembl chr 9:65,903,547...65,970,816 		JBrowse link
G Fos Fos proto-oncogene, AP-1 transcription factor subunit ISO protein:decreased expression:frontal cortex RGD PMID:17548164 RGD:10047402 NCBI chr 6:105,121,170...105,124,036
Ensembl chr 6:105,121,170...105,124,036 		JBrowse link
G Hnmt histamine N-methyltransferase ISO RGD PMID:11880199 RGD:5509779 NCBI chr 3:6,591,804...6,623,821
Ensembl chr 3:6,591,463...6,624,012 		JBrowse link
G Map2k6 mitogen-activated protein kinase kinase 6 ISO RGD PMID:12392790 RGD:7495833 NCBI chr10:95,373,304...95,490,406
Ensembl chr10:95,373,204...95,488,293 		JBrowse link
G Mapt microtubule-associated protein tau ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Dementia with lobar atrophy and neuronal cytoplasmic inclusions | ClinVar Annotator: match by term: Pick Disease of the Brain | ClinVar Annotator: match by term: Pick disease		 CTD
OMIM
ClinVar		 PMID:2273997 PMID:8673924 PMID:9629852 PMID:9641683 PMID:9736786 More... NCBI chr10:89,138,644...89,236,137
Ensembl chr10:89,138,627...89,236,129 		JBrowse link
G Psen1 presenilin 1 ISO ClinVar Annotator: match by term: Dementia with lobar atrophy and neuronal cytoplasmic inclusions | ClinVar Annotator: match by term: Pick Disease of the Brain | ClinVar Annotator: match by term: Pick disease
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 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 Snca synuclein alpha ISO protein:increased expression:dentate gyrus RGD PMID:12410393 RGD:6480200 NCBI chr 4:89,696,420...89,797,240
Ensembl chr 4:89,696,420...89,796,262 		JBrowse link
G Sncb synuclein, beta ISO protein:increased expression:dentate gyrus RGD PMID:12410393 RGD:6480200 NCBI chr17:9,846,802...9,855,013
Ensembl chr17:9,846,802...9,855,012 		JBrowse link
G Tardbp TAR DNA binding protein ISO RGD PMID:18091558 RGD:5687194 NCBI chr 5:159,050,518...159,062,218
Ensembl chr 5:159,051,799...159,062,055 		JBrowse link
primary progressive aphasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Grn granulin precursor ISO ClinVar Annotator: match by term: Primary progressive aphasia ClinVar PMID:6497355 PMID:12794388 PMID:16862116 PMID:16950801 PMID:17202431 More... NCBI chr10:87,387,672...87,393,777
Ensembl chr10:87,387,638...87,393,775 		JBrowse link
G Prnp prion protein ISO ClinVar Annotator: match by term: Aphasia, primary progressive, susceptibility to ClinVar PMID:1353341 PMID:1677164 PMID:1682813 PMID:1684089 PMID:1971924 More... NCBI chr 3:119,186,073...119,201,513
Ensembl chr 3:119,177,485...119,203,937 		JBrowse link
progressive non-fluent aphasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbk1 TANK-binding kinase 1 ISO ClinVar Annotator: match by term: Primary progressive non fluent aphasia ClinVar NCBI chr 7:57,077,830...57,110,868
Ensembl chr 7:57,077,830...57,110,892 		JBrowse link
semantic dementia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mapt microtubule-associated protein tau ISO ClinVar Annotator: match by term: Semantic dementia ClinVar PMID:25741868 NCBI chr10:89,138,644...89,236,137
Ensembl chr10:89,138,627...89,236,129 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Diseases of the Aged 1474
      dementia 874
        Frontotemporal Lobar Degeneration 172
          frontotemporal dementia 169
            Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis + 110
            GRN-related frontotemporal lobar degeneration with TDP43 inclusions 13
            Pallidopontonigral Degeneration 0
            Pick's disease 10
            amyotrophic lateral sclerosis type 15 1
            amyotrophic lateral sclerosis type 22 1
            amyotrophic lateral sclerosis type 6 2
            corticobasal degeneration syndrome 0
            inclusion body myopathy with Paget disease of bone and frontotemporal dementia + 6
            primary progressive aphasia + 4
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14091
        central nervous system disease 12432
          brain disease 11669
            disease of mental health 8321
              cognitive disorder 2302
                dementia 874
                  Frontotemporal Lobar Degeneration 172
                    frontotemporal dementia 169
                      Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis + 110
                      GRN-related frontotemporal lobar degeneration with TDP43 inclusions 13
                      Pallidopontonigral Degeneration 0
                      Pick's disease 10
                      amyotrophic lateral sclerosis type 15 1
                      amyotrophic lateral sclerosis type 22 1
                      amyotrophic lateral sclerosis type 6 2
                      corticobasal degeneration syndrome 0
                      inclusion body myopathy with Paget disease of bone and frontotemporal dementia + 6
                      primary progressive aphasia + 4
paths to the root