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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 Lobar Degeneration
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Accession:DOID:9002031 term browser browse the term
Definition:Heterogeneous group of neurodegenerative disorders characterized by frontal and temporal lobe atrophy associated with neuronal loss, gliosis, and dementia. Patients exhibit progressive changes in social, behavioral, and/or language function. Multiple subtypes or forms are recognized based on presence or absence of TAU PROTEIN inclusions. FTLD includes three clinical syndromes: FRONTOTEMPORAL DEMENTIA, semantic dementia, and PRIMARY PROGRESSIVE NONFLUENT APHASIA.
Synonyms:exact_synonym: FTLD;   FTLDs;   Frontotemporal Lobar Degenerations
 primary_id: MESH:D057174;   RDO:0007785
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Frontotemporal Lobar Degeneration term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bdnf brain-derived neurotrophic factor no_association ISO DNA:polymorphisms: :196G>A (p.V66M), 11757G>C (human)
DNA:SNP: :rs2049045 (human)
RGD PMID:22596272, PMID:22596272 RGD:10059351, RGD:10059351 NCBI chr 3:100,768,637...100,819,216
Ensembl chr 3:100,768,637...100,819,210
JBrowse link
G Chmp2b charged multivesicular body protein 2B no_association ISO CTD Direct Evidence: marker/mechanism CTD PMID:17956895, PMID:22366797, PMID:20412296 RGD:5688397, RGD:5688712 NCBI chr11:2,666,405...2,692,213
Ensembl chr11:2,665,285...2,692,198
JBrowse link
G Fus FUS RNA binding protein ISO RGD PMID:21847626, PMID:21408206 RGD:5509902, RGD:9685710 NCBI chr 1:199,412,805...199,426,705
Ensembl chr 1:199,412,834...199,426,702
JBrowse link
G Grn granulin precursor onset ISO DNA, protein:mutations, decreased expression:plasma:multiple
CTD Direct Evidence: marker/mechanism
DNA:SNP: :rs9897526 (human)
DNA:frameshift mutation, missense mutations, nonsense mutation:exon:multiple
DNA:mutation:intron:IVS6-1G>A (human)
DNA:hypermethylation:promoter
CTD PMID:20154673, PMID:19158106, PMID:18192287, PMID:17228326, PMID:17950702, PMID:22797721 RGD:10401634, RGD:10401650, RGD:10401647, RGD:10401638, RGD:10401637 NCBI chr10:90,377,103...90,383,207
Ensembl chr10:90,376,933...90,383,205
JBrowse link
G Hsp90aa1 heat shock protein 90 alpha family class A member 1 ISO protein:decreased phosphorylation:frontal cortex (human) RGD PMID:20886841 RGD:10412651 NCBI chr 6:135,107,262...135,112,793
Ensembl chr 6:135,107,271...135,112,775
Ensembl chr 6:135,107,271...135,112,775
JBrowse link
G Optn optineurin ISO RGD PMID:21360076 RGD:6480505 NCBI chr17:77,167,700...77,218,374
Ensembl chr17:77,167,740...77,218,389
JBrowse link
G RGD1359108 similar to RIKEN cDNA 3110043O21 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27713094 NCBI chr 5:50,666,444...50,691,523
Ensembl chr 5:50,668,040...50,684,409
JBrowse link
G Sigmar1 sigma non-opioid intracellular receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24885036 NCBI chr 5:58,121,824...58,124,687
Ensembl chr 5:58,121,786...58,124,681
JBrowse link
G Tardbp TAR DNA binding protein ISO CTD Direct Evidence: marker/mechanism
DNA:mutation:cds:p.A382T (human)
protein:increased phosphorylation:brain
CTD PMID:24019256 PMID:24252504 PMID:24477737, PMID:22177996, PMID:21667065, PMID:20660618, PMID:17023659 RGD:5687136, RGD:5687172, RGD:5687159, RGD:5687158 NCBI chr 5:165,432,089...165,442,232
Ensembl chr 5:165,432,095...165,442,048
JBrowse link
G Tmem106b transmembrane protein 106B ISO CTD Direct Evidence: marker/mechanism CTD PMID:20154673 NCBI chr 4:39,517,679...39,534,491
Ensembl chr 4:39,517,548...39,535,169
JBrowse link
amyotrophic lateral sclerosis type 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arid3c AT-rich interaction domain 3C ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia ClinVar PMID:28492532 NCBI chr 5:58,107,182...58,114,632
Ensembl chr 5:58,107,707...58,113,553
JBrowse link
G Ccl19 C-C motif chemokine ligand 19 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia ClinVar PMID:28492532 NCBI chr 5:58,181,025...58,182,969
Ensembl chr 5:58,181,026...58,183,017
JBrowse link
G Ccl21 C-C motif chemokine ligand 21 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia ClinVar PMID:28492532 NCBI chr 5:58,197,678...58,198,782
Ensembl chr 5:58,197,680...58,198,782
JBrowse link
G Ccl27 C-C motif chemokine ligand 27 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia ClinVar PMID:28492532 NCBI chr 5:58,159,066...58,166,182
Ensembl chr 5:58,159,066...58,163,584
JBrowse link
G Cntfr ciliary neurotrophic factor receptor ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia ClinVar PMID:28492532 NCBI chr 5:58,041,114...58,078,687
Ensembl chr 5:58,041,146...58,078,545
JBrowse link
G Dctn3 dynactin subunit 3 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia ClinVar PMID:28492532 NCBI chr 5:58,098,706...58,106,706
Ensembl chr 5:58,098,706...58,106,706
JBrowse link
G Dnai1 dynein, axonemal, intermediate chain 1 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia ClinVar PMID:28492532 NCBI chr 5:57,947,796...58,017,985
Ensembl chr 5:57,947,716...58,017,992
JBrowse link
G Dnajb5 DnaJ heat shock protein family (Hsp40) member B5 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia ClinVar PMID:28492532 NCBI chr 5:58,393,197...58,402,162
Ensembl chr 5:58,393,233...58,401,870
JBrowse link
G Enho energy homeostasis associated ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia ClinVar PMID:28492532 NCBI chr 5:58,018,039...58,019,836
Ensembl chr 5:58,018,039...58,019,836
JBrowse link
G Fam205a family with sequence similarity 205, member A ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia ClinVar PMID:28492532 NCBI chr 5:58,282,202...58,303,075
Ensembl chr 5:58,282,379...58,288,125
JBrowse link
G Galt galactose-1-phosphate uridylyltransferase ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia ClinVar PMID:28492532 NCBI chr 5:58,144,679...58,147,946
Ensembl chr 5:58,144,705...58,147,929
JBrowse link
G Il11ra1 interleukin 11 receptor subunit alpha 1 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia ClinVar PMID:28492532 NCBI chr 5:58,149,150...58,159,072
Ensembl chr 5:58,151,985...58,159,072
JBrowse link
G LOC100360821 rCG55159-like ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia ClinVar PMID:28492532 NCBI chr 5:58,416,058...58,421,991
Ensembl chr 5:58,416,432...58,420,342
JBrowse link
G Phf24 PHD finger protein 24 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia ClinVar PMID:28492532 NCBI chr 5:58,359,744...58,387,446
Ensembl chr 5:58,359,498...58,383,070
JBrowse link
G Rpp25l ribonuclease P/MRP subunit p25 like ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia ClinVar PMID:28492532 NCBI chr 5:58,096,037...58,097,577
Ensembl chr 5:58,096,213...58,097,577
JBrowse link
G Sigmar1 sigma non-opioid intracellular receptor 1 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia ClinVar PMID:28492532 NCBI chr 5:58,121,824...58,124,687
Ensembl chr 5:58,121,786...58,124,681
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 OMIM:613954
OMIM
ClinVar
PMID:9536098 PMID:15034582 PMID:16247064 PMID:16321991 PMID:16790606 PMID:16984901 PMID:17329348 PMID:17576681 PMID:17763460 PMID:17889967 PMID:18341608 PMID:19225410 PMID:19237541 PMID:19364651 PMID:19704082 PMID:20008565 PMID:20104022 PMID:20512113 PMID:20604808 PMID:21145000 PMID:21320982 PMID:21387114 PMID:21816654 PMID:21822278 PMID:21920633 PMID:21984748 PMID:22078486 PMID:22137929 PMID:22270372 PMID:22686199 PMID:22898872 PMID:22900631 PMID:22909335 PMID:23029473 PMID:23056506 PMID:23152587 PMID:23169451 PMID:23333620 PMID:23498975 PMID:24196964 PMID:24829604 PMID:25125609 PMID:25388089 PMID:25492614 PMID:25617006 PMID:25618255 PMID:25741868 PMID:25775548 PMID:26105173 PMID:26467025 PMID:26555887 PMID:26809617 PMID:27209344 PMID:27226613 PMID:27538664 PMID:27708273 PMID:27768726 PMID:27790088 PMID:28130640 PMID:28166811 PMID:28360103 PMID:28430856 PMID:28492532 PMID:28692196 PMID:29754758 PMID:29899994 PMID:30279455 PMID:30955949 PMID:31848255 PMID:31914217 NCBI chr 5:58,426,548...58,445,953
Ensembl chr 5:58,426,549...58,445,953
JBrowse link
amyotrophic lateral sclerosis type 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ubqln2 ubiquilin 2 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia
ClinVar Annotator: match by OMIM:300857
OMIM
ClinVar
PMID:19377476 PMID:21857683 PMID:22560112 PMID:23138764 PMID:24771548 PMID:25333069 PMID:25616961 PMID:25741868 PMID:26075709 PMID:26467025 PMID:28492532 NCBI chr  X:18,723,313...18,726,732
Ensembl chr  X:18,723,341...18,726,732
JBrowse link
amyotrophic lateral sclerosis type 22 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tuba4a tubulin, alpha 4A ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia
ClinVar Annotator: match by OMIM:616208
OMIM
ClinVar
PMID:25374358 PMID:25741868 NCBI chr 9:82,415,599...82,419,918
Ensembl chr 9:82,415,605...82,419,288
JBrowse link
amyotrophic lateral sclerosis type 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fus FUS RNA binding protein ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 6
DNA:mutations:cds:
ClinVar Annotator: match by OMIM:608030
OMIM
ClinVar
PMID:9536098 PMID:12840784 PMID:12858291 PMID:17576681 PMID:19251627 PMID:19251628 PMID:19450904 PMID:19741215 PMID:19861302 PMID:20018407 PMID:20124201 PMID:20138404 PMID:20142531 PMID:20385912 PMID:20544928 PMID:20577002 PMID:20579074 PMID:20606625 PMID:20660363 PMID:20668259 PMID:20668261 PMID:20699327 PMID:21158017 PMID:21261515 PMID:21280085 PMID:21604077 PMID:21881207 PMID:21907581 PMID:21943958 PMID:21949354 PMID:22055719 PMID:22292843 PMID:22340366 PMID:22645277 PMID:22722621 PMID:22863194 PMID:22980027 PMID:23046859 PMID:23056579 PMID:23085990 PMID:23257289 PMID:23577159 PMID:23731953 PMID:23834483 PMID:23881933 PMID:24033266 PMID:24080306 PMID:24204307 PMID:24262168 PMID:24280224 PMID:24439481 PMID:24899262 PMID:24908169 PMID:25173930 PMID:25274782 PMID:25289647 PMID:25324524 PMID:25382069 PMID:25457557 PMID:25585530 PMID:25625564 PMID:25631824 PMID:25741868 PMID:26251528 PMID:26452761 PMID:26467025 PMID:26601740 PMID:26725112 PMID:26795035 PMID:27123482 PMID:28166811 PMID:28273913 PMID:28492532 PMID:28642336 PMID:30279455 PMID:30349096 PMID:30879340, PMID:19251628 RGD:9685712 NCBI chr 1:199,412,805...199,426,705
Ensembl chr 1:199,412,834...199,426,702
JBrowse link
G Vcp valosin-containing protein ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia ClinVar PMID:30103325 NCBI chr 5:58,426,548...58,445,953
Ensembl chr 5:58,426,549...58,445,953
JBrowse link
chromosome 3-linked frontotemporal dementia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chmp2b charged multivesicular body protein 2B ISO ClinVar Annotator: match by term: Frontotemporal Dementia, Chromosome 3-Linked
ClinVar Annotator: match by term: Frontotemporal dementia, chromosome 3-linked
ClinVar Annotator: match by OMIM:600795
ClinVar
OMIM
PMID:16041373 PMID:16431024 PMID:16807408 PMID:16941655 PMID:17956895 PMID:20352044 PMID:20592581 PMID:20625756 PMID:21222599 PMID:22521643 PMID:22527221 PMID:23155438 PMID:25741868 PMID:26467025 PMID:26777436 PMID:26836416 PMID:28166811 PMID:28430856 PMID:28492532 PMID:29411640 PMID:29431110 PMID:29486463 PMID:29525180 PMID:30054184 NCBI chr11:2,666,405...2,692,213
Ensembl chr11:2,665,285...2,692,198
JBrowse link
G Pou1f1 POU class 1 homeobox 1 ISO ClinVar Annotator: match by term: Frontotemporal Dementia, Chromosome 3-Linked ClinVar NCBI chr11:2,645,659...2,662,581
Ensembl chr11:2,645,865...2,662,579
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 NCBI chr 7:12,742,433...12,762,423
Ensembl chr 7:12,742,433...12,762,341
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 PMID:18786133 PMID:23559313 PMID:25741868 PMID:25965562 PMID:26462614 PMID:28492532 NCBI chr 7:130,446,644...130,452,632
Ensembl chr 7:130,446,668...130,451,283
JBrowse link
G Bace2 beta-secretase 2 ISO mRNA,protein, activity:increased expression, increased activity:gyrus: RGD PMID:22074738 RGD:13782172 NCBI chr11:37,798,397...37,880,624
Ensembl chr11:37,798,370...37,880,821
JBrowse link
G Chmp2b charged multivesicular body protein 2B no_association ISO DNA:mutations:cds
ClinVar Annotator: match by term: Frontotemporal dementia
CTD Direct Evidence: marker/mechanism
DNA:mutations: :
ClinVar
CTD
PMID:16041373 PMID:26467025 PMID:28492532, PMID:16041373, PMID:16979267, PMID:19202337 RGD:5688398, RGD:5688721, RGD:5688716 NCBI chr11:2,666,405...2,692,213
Ensembl chr11:2,665,285...2,692,198
JBrowse link
G Csf1r colony stimulating factor 1 receptor ISO ClinVar Annotator: match by term: Frontotemporal dementia ClinVar PMID:25741868 NCBI chr18:56,414,493...56,458,300
Ensembl chr18:56,414,488...56,458,300
JBrowse link
G Grn granulin precursor ISO DNA:mutations, haploinsufficiency: :
ClinVar Annotator: match by term: Frontotemporal dementia, ubiquitin-positive
CTD Direct Evidence: marker/mechanism
DNA:deletion:exon:
DNA:deletion: :g.102delC(humN)
DNA:missense mutation:signal peptide:p.A9D(human)
ClinVar
CTD
PMID:16862116 PMID:16950801 PMID:18234697 PMID:18723524 PMID:19158106 PMID:19683260 PMID:20045477 PMID:20142524 PMID:21403024 PMID:21454553 PMID:22028881 PMID:22491866 PMID:23463024 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30279455, PMID:16862116, PMID:18855025, PMID:19012866, PMID:16983685, PMID:21933710 RGD:5509588, RGD:5509612, RGD:5509609, RGD:5509602, RGD:5509589 NCBI chr10:90,377,103...90,383,207
Ensembl chr10:90,376,933...90,383,205
JBrowse link
G Lrrk2 leucine-rich repeat kinase 2 ISO ClinVar Annotator: match by term: Frontotemporal dementia ClinVar PMID:17639429 RGD:5508418 NCBI chr 7:132,857,311...133,018,549
Ensembl chr 7:132,857,628...133,018,584
JBrowse link
G Mapt microtubule-associated protein tau no_association ISO DNA:missense mutations, splice site mutations:exon, intron:multiple
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 Direct Evidence: marker/mechanism
DNA:mutation:splice junction: IVS10+16C>T(human)
ClinVar Annotator: match by null
ClinVar Annotator: match by OMIM:600274
DNA:haplotype
ClinVar
CTD
OMIM
PMID:1416801 PMID:7783864 PMID:7936288 PMID:7977375 PMID:8926492 PMID:8940276 PMID:9088499 PMID:9382467 PMID:9392579 PMID:9536098 PMID:9629852 PMID:9636220 PMID:9641683 PMID:9736786 PMID:9789048 PMID:9811325 PMID:9824291 PMID:9836646 PMID:9973279 PMID:10076890 PMID:10100642 PMID:10100846 PMID:10202939 PMID:10208578 PMID:10214944 PMID:10218629 PMID:10219785 PMID:10318930 PMID:10329720 PMID:10359094 PMID:10360762 PMID:10374757 PMID:10412802 PMID:10443890 PMID:10446810 PMID:10489057 PMID:10514099 PMID:10553987 PMID:10561502 PMID:10624829 PMID:10627302 PMID:10767321 PMID:10797541 PMID:10802785 PMID:10820221 PMID:10821687 PMID:10822460 PMID:10865093 PMID:10932182 PMID:11013246 PMID:11071507 PMID:11081811 PMID:11102510 PMID:11115852 PMID:11117541 PMID:11117542 PMID:11117553 PMID:11159174 PMID:11255441 PMID:11278002 PMID:11402146 PMID:11456301 PMID:11598310 PMID:11641718 PMID:11708988 PMID:11738505 PMID:11756436 PMID:11756496 PMID:11889249 PMID:11891833 PMID:11912108 PMID:11921059 PMID:11971081 PMID:11971082 PMID:12325083 PMID:12368474 PMID:12473404 PMID:12473774 PMID:12509859 PMID:12565146 PMID:12615641 PMID:12722177 PMID:12756133 PMID:12796837 PMID:12847166 PMID:12876142 PMID:12975285 PMID:14517953 PMID:14568818 PMID:14755449 PMID:15178938 PMID:15178940 PMID:15365985 PMID:15372253 PMID:15376481 PMID:15489396 PMID:15883319 PMID:15904919 PMID:16219306 PMID:16240366 PMID:16495230 PMID:16495328 PMID:16571759 PMID:16818492 PMID:17071927 PMID:17576681 PMID:17715352 PMID:17923640 PMID:17950702 PMID:18284428 PMID:18357425 PMID:18525295 PMID:18587238 PMID:18803694 PMID:18854867 PMID:18992292 PMID:19091059 PMID:19304664 PMID:19365643 PMID:19458322 PMID:19498037 PMID:19659892 PMID:19766248 PMID:19786698 PMID:19884572 PMID:19914360 PMID:20045477 PMID:20130190 PMID:20377816 PMID:20561037 PMID:20598713 PMID:20634584 PMID:21176711 PMID:21339331 PMID:21343707 PMID:21344240 PMID:21492964 PMID:21555888 PMID:21849646 PMID:22022446 PMID:22127750 PMID:22169201 PMID:22312439 PMID:22556362 PMID:22595371 PMID:22723997 PMID:22787795 PMID:22818528 PMID:22906081 PMID:23043292 PMID:23047372 PMID:23053136 PMID:23105105 PMID:23338682 PMID:23383383 PMID:23518664 PMID:23659495 PMID:23680655 PMID:23692670 PMID:23727082 PMID:23881933 PMID:23885714 PMID:23990795 PMID:24018212 PMID:24081456 PMID:24150109 PMID:24218087 PMID:25004446 PMID:25151619 PMID:25319522 PMID:25466404 PMID:25592136 PMID:25604855 PMID:25671699 PMID:25683866 PMID:25741868 PMID:25937274 PMID:25942996 PMID:26028272 PMID:26136155 PMID:26143746 PMID:26200045 PMID:26220942 PMID:26269332 PMID:26295349 PMID:26333800 PMID:26373282 PMID:26426266 PMID:26467025 PMID:26519432 PMID:26601740 PMID:26931567 PMID:27082848 PMID:27094865 PMID:27439681 PMID:27594586 PMID:27606344 PMID:27975259 PMID:28097206 PMID:28130473 PMID:28166811 PMID:28334843 PMID:28462717 PMID:28492532 PMID:28923025 PMID:30279455 PMID:177121602, PMID:9641683, PMID:16407562, PMID:19766248, PMID:17386961 RGD:1302531, RGD:10412702, RGD:10412699, RGD:8158108 NCBI chr10:92,289,002...92,386,517
Ensembl chr10:92,288,910...92,386,517
JBrowse link
G Marchf4 membrane associated ring-CH-type finger 4 ISO ClinVar Annotator: match by term: Frontotemporal dementia ClinVar PMID:29476165 NCBI chr 9:79,781,752...79,898,726
Ensembl chr 9:79,782,845...79,898,912
JBrowse link
G Masp2 MBL associated serine protease 2 ISO ClinVar Annotator: match by term: Frontotemporal dementia ClinVar PMID:24033266 PMID:28492532 NCBI chr 5:165,415,105...165,429,857
Ensembl chr 5:165,415,136...165,430,054
JBrowse link
G Mef2c myocyte enhancer factor 2C ISO ClinVar Annotator: match by term: Frontotemporal dementia ClinVar NCBI chr 2:11,658,534...11,822,788
Ensembl chr 2:11,658,568...11,822,787
JBrowse link
G Mobp myelin-associated oligodendrocyte basic protein disease_progression ISO DNA:SNP: :rs1768208(human) RGD PMID:24994843 RGD:27226701 NCBI chr 8:128,824,420...128,854,492
Ensembl chr 8:128,824,508...128,850,358
JBrowse link
G Pou1f1 POU class 1 homeobox 1 ISO ClinVar Annotator: match by term: Frontotemporal dementia ClinVar PMID:26467025 PMID:28492532 NCBI chr11:2,645,659...2,662,581
Ensembl chr11:2,645,865...2,662,579
JBrowse link
G Prkn parkin RBR E3 ubiquitin protein ligase disease_progression ISO RGD PMID:18817929 RGD:10412726 NCBI chr 1:48,880,015...50,069,998 JBrowse link
G Psen1 presenilin 1 ISO ClinVar Annotator: match by term: Frontotemporal dementia
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:11094121 PMID:11895378 PMID:15776278 PMID:17431506 PMID:20332427 PMID:20634584 PMID:22475797 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30279455 PMID:31153663 NCBI chr 6:107,169,514...107,221,000
Ensembl chr 6:107,169,528...107,216,798
JBrowse link
G Tardbp TAR DNA binding protein ISO
ISS
ClinVar Annotator: match by term: Frontotemporal dementia
OMIM:600274 | OMIM:600795
ClinVar
MouseDO
PMID:19411082 PMID:20082726 PMID:20675015 PMID:20708823 PMID:22575358 PMID:24033266 PMID:26467025 PMID:28492532 NCBI chr 5:165,432,089...165,442,232
Ensembl chr 5:165,432,095...165,442,048
JBrowse link
G Tm2d3 TM2 domain containing 3 ISO ClinVar Annotator: match by term: Frontotemporal dementia ClinVar PMID:25741868 NCBI chr 1:126,573,474...126,595,778
Ensembl chr 1:126,586,543...126,595,603
JBrowse link
G Tnk1 tyrosine kinase, non-receptor, 1 ISO ClinVar Annotator: match by term: Frontotemporal dementia ClinVar PMID:25741868 NCBI chr10:56,458,650...56,475,183
Ensembl chr10:56,459,108...56,465,393
JBrowse link
G Trem2 triggering receptor expressed on myeloid cells 2 ISS OMIM:600274 | OMIM:600795 MouseDO NCBI chr 9:14,611,541...14,618,076
Ensembl chr 9:14,611,561...14,618,013
JBrowse link
G Vps13c vacuolar protein sorting 13 homolog C ISO ClinVar Annotator: match by term: Frontotemporal dementia ClinVar PMID:25741868 NCBI chr 8:73,682,814...73,843,290
Ensembl chr 8:73,682,887...73,842,928
JBrowse link
Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adam10 ADAM metallopeptidase domain 10 ISO ClinVar Annotator: match by term: Corticobasal syndrome ClinVar PMID:25741868 NCBI chr 8:77,107,355...77,237,483
Ensembl chr 8:77,107,536...77,237,483
JBrowse link
G RGD1359108 similar to RIKEN cDNA 3110043O21 ISO ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis/Frontotemporal Dementia ClinVar NCBI chr 5:50,666,444...50,691,523
Ensembl chr 5:50,668,040...50,684,409
JBrowse link
G Ttc3 tetratricopeptide repeat domain 3 ISO ClinVar Annotator: match by term: Corticobasal syndrome ClinVar PMID:25741868 NCBI chr11:34,598,324...34,739,986
Ensembl chr11:34,598,492...34,738,791
JBrowse link
frontotemporal dementia and/or amyotrophic lateral sclerosis-1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamts2 ADAM metallopeptidase with thrombospondin type 1 motif, 2 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis and/or frontotemporal dementia 1 ClinVar PMID:26925868 PMID:28492532 NCBI chr10:36,098,051...36,304,416
Ensembl chr10:36,098,051...36,304,409
JBrowse link
G Canx calnexin ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis and/or frontotemporal dementia 1 ClinVar PMID:26925868 PMID:28492532 NCBI chr10:35,800,942...35,833,939
Ensembl chr10:35,800,942...35,833,861
JBrowse link
G Cby3 chibby family member 3 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis and/or frontotemporal dementia 1 ClinVar PMID:26925868 PMID:28492532 NCBI chr10:35,855,320...35,860,266
Ensembl chr10:35,857,797...35,860,987
JBrowse link
G Hnrnph1 heterogeneous nuclear ribonucleoprotein H1 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis and/or frontotemporal dementia 1 ClinVar PMID:26925868 PMID:28492532 NCBI chr10:35,872,619...35,879,911
Ensembl chr10:35,870,232...35,879,910
JBrowse link
G LOC502109 similar to FLJ46321 protein ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis and/or frontotemporal dementia 1 ClinVar PMID:26925868 PMID:28492532 NCBI chr17:2,804,181...2,809,126
Ensembl chr17:2,804,307...2,808,368
JBrowse link
G Ltc4s leukotriene C4 synthase ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis and/or frontotemporal dementia 1 ClinVar PMID:26925868 PMID:28492532 NCBI chr10:35,736,486...35,743,088
Ensembl chr10:35,737,664...35,739,625
JBrowse link
G Maml1 mastermind-like transcriptional coactivator 1 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis and/or frontotemporal dementia 1 ClinVar PMID:26925868 PMID:28492532 NCBI chr10:35,765,196...35,801,375
Ensembl chr10:35,765,719...35,800,120
JBrowse link
G Mgat4b alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase B ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis and/or frontotemporal dementia 1 ClinVar PMID:26925868 PMID:28492532 NCBI chr10:35,726,501...35,736,338
Ensembl chr10:35,726,544...35,736,338
JBrowse link
G RGD1359108 similar to RIKEN cDNA 3110043O21 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis and/or frontotemporal dementia 1
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:26769963 PMID:28492532 NCBI chr 5:50,666,444...50,691,523
Ensembl chr 5:50,668,040...50,684,409
JBrowse link
G Rufy1 RUN and FYVE domain containing 1 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis and/or frontotemporal dementia 1 ClinVar PMID:26925868 PMID:28492532 NCBI chr10:35,882,805...35,927,268
Ensembl chr10:35,882,805...35,927,268
JBrowse link
G Sqstm1 sequestosome 1 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis and/or frontotemporal dementia 1 ClinVar PMID:9536098 PMID:11992264 PMID:12374763 PMID:14584883 PMID:15125799 PMID:15146436 PMID:15176995 PMID:15493999 PMID:15647816 PMID:15765181 PMID:16691492 PMID:16813535 PMID:17129171 PMID:17188686 PMID:17229007 PMID:17229008 PMID:17576681 PMID:18543015 PMID:18765443 PMID:19257822 PMID:19589897 PMID:20200946 PMID:20499339 PMID:21073987 PMID:21195346 PMID:21515589 PMID:21878516 PMID:22084127 PMID:22491873 PMID:22972638 PMID:23117207 PMID:23303844 PMID:23417734 PMID:23447461 PMID:23612225 PMID:23812289 PMID:23820649 PMID:23942205 PMID:24033266 PMID:24042580 PMID:24486447 PMID:24899140 PMID:25241215 PMID:25382069 PMID:25512523 PMID:25664955 PMID:25681989 PMID:25708934 PMID:25741868 PMID:25796131 PMID:25852467 PMID:26208961 PMID:26467025 PMID:26627873 PMID:26713335 PMID:26836416 PMID:26925868 PMID:27163810 PMID:27275741 PMID:27545679 PMID:27594680 PMID:28166811 PMID:28430856 PMID:28492532 PMID:28642336 PMID:29457785 PMID:29525180 PMID:29599744 PMID:29895397 PMID:29959261 PMID:30120248 PMID:30154079 PMID:31859009 PMID:32385536 NCBI chr10:35,704,728...35,716,316
Ensembl chr10:35,704,730...35,716,294
JBrowse link
frontotemporal dementia and/or amyotrophic lateral sclerosis-2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chchd10 coiled-coil-helix-coiled-coil-helix domain containing 10 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 OMIM
ClinVar
PMID:24934289 PMID:25113787 PMID:25155093 PMID:25193783 PMID:25261972 PMID:25348631 PMID:25576308 PMID:25681414 PMID:25741868 PMID:25833818 PMID:26152333 PMID:28492532 PMID:28585542 PMID:29112723 PMID:29121267 PMID:29315381 PMID:29789341 PMID:30014597 NCBI chr20:13,665,046...13,666,845
Ensembl chr20:13,665,031...13,667,333
JBrowse link
frontotemporal dementia and/or amyotrophic lateral sclerosis-3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mrnip MRN complex interacting protein ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 ClinVar PMID:25741868 NCBI chr10:35,680,687...35,704,685
Ensembl chr10:35,680,658...35,704,776
JBrowse link
G Sqstm1 sequestosome 1 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 3
ClinVar Annotator: match by term: FTDALS3
OMIM
ClinVar
PMID:11992264 PMID:14584883 PMID:15176995 PMID:15493999 PMID:15647816 PMID:15765181 PMID:16691492 PMID:16813535 PMID:17229007 PMID:17229008 PMID:18543015 PMID:18765443 PMID:19257822 PMID:19589897 PMID:20200946 PMID:20499339 PMID:21195346 PMID:21515589 PMID:21878516 PMID:22084127 PMID:22972638 PMID:23417734 PMID:23942205 PMID:24033266 PMID:24042580 PMID:24486447 PMID:24899140 PMID:25241215 PMID:25741868 PMID:25796131 PMID:26627873 PMID:26713335 PMID:27275741 PMID:27594680 PMID:28430856 PMID:28492532 PMID:29457785 PMID:29525180 PMID:29599744 PMID:30154079 NCBI chr10:35,704,728...35,716,316
Ensembl chr10:35,704,730...35,716,294
JBrowse link
frontotemporal dementia and/or amyotrophic lateral sclerosis-4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kif5a kinesin family member 5A ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ClinVar PMID:25741868 NCBI chr 7:70,515,832...70,552,897
Ensembl chr 7:70,513,343...70,556,827
JBrowse link
G Tbk1 TANK-binding kinase 1 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ClinVar
OMIM
PMID:25700176 PMID:25741868 PMID:25803835 PMID:25943890 PMID:26476236 PMID:26581300 PMID:28008748 PMID:28166811 PMID:28365590 PMID:28492532 PMID:28822984 PMID:30033073 PMID:32447396 NCBI chr 7:63,655,247...63,687,978
Ensembl chr 7:63,655,247...63,687,978
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:27080313 NCBI chr10:13,594,687...13,619,935
Ensembl chr10:13,594,687...13,619,935
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:23338750 PMID:32185393 NCBI chr19:19,264,984...19,323,817
Ensembl chr19:19,265,164...19,315,357
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 chr10:90,217,979...90,224,984
Ensembl chr10:90,217,924...90,226,537
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 chr10:90,234,749...90,241,757
Ensembl chr10:90,236,928...90,240,509
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 chr10:90,134,193...90,138,425
Ensembl chr10:90,134,193...90,138,425
JBrowse link
G Grn granulin precursor ISO ClinVar Annotator: match by term: Grn-related frontotemporal lobar degeneration with Tdp43 inclusions
ClinVar Annotator: match by term: Frontotemporal dementia, ubiquitin-positive
ClinVar Annotator: match by OMIM:607485
ClinVar
OMIM
PMID:6497355 PMID:9152110 PMID:9259373 PMID:9536098 PMID:9633693 PMID:12476321 PMID:16401619 PMID:16495329 PMID:16862115 PMID:16862116 PMID:16950801 PMID:16983677 PMID:16983685 PMID:17071927 PMID:17202431 PMID:17210807 PMID:17228326 PMID:17334266 PMID:17345602 PMID:17371905 PMID:17436289 PMID:17439980 PMID:17522386 PMID:17576681 PMID:17620546 PMID:17698705 PMID:17826340 PMID:17917583 PMID:17923627 PMID:17949857 PMID:17984093 PMID:18183624 PMID:18184915 PMID:18192287 PMID:18223198 PMID:18234697 PMID:18245784 PMID:18314228 PMID:18322394 PMID:18392865 PMID:18413474 PMID:18464284 PMID:18543312 PMID:18551524 PMID:18565828 PMID:18703462 PMID:18723524 PMID:18752597 PMID:18838661 PMID:18855025 PMID:19012866 PMID:19158106 PMID:19288468 PMID:19632744 PMID:19649643 PMID:19683260 PMID:19766663 PMID:19858458 PMID:19884572 PMID:20020531 PMID:20028451 PMID:20045477 PMID:20087814 PMID:20142524 PMID:20142525 PMID:20301545 PMID:20522652 PMID:21403024 PMID:21454553 PMID:21482928 PMID:21569259 PMID:21800185 PMID:22312439 PMID:22366795 PMID:22491866 PMID:22608501 PMID:22647257 PMID:22781549 PMID:22906081 PMID:22995991 PMID:23117491 PMID:23338682 PMID:23463024 PMID:23596077 PMID:23624518 PMID:23684369 PMID:23724906 PMID:23742080 PMID:23759146 PMID:23813535 PMID:23990795 PMID:24022032 PMID:24503614 PMID:24703252 PMID:25104557 PMID:25333068 PMID:25525159 PMID:25546130 PMID:25558820 PMID:25741868 PMID:26075876 PMID:26159191 PMID:26467025 PMID:26652843 PMID:26791154 PMID:26811050 PMID:27082848 PMID:27258413 PMID:27311648 PMID:27341800 PMID:27632209 PMID:27790088 PMID:27884173 PMID:27997711 PMID:28000352 PMID:28264768 PMID:28473694 PMID:28492532 PMID:29339765 PMID:29486463 PMID:29614680 PMID:29874572 PMID:30090657 PMID:30279455 PMID:30528841 PMID:31122931 PMID:31262553, PMID:19649643 RGD:5509604 NCBI chr10:90,377,103...90,383,207
Ensembl chr10:90,376,933...90,383,205
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 chr10:90,140,183...90,169,853
Ensembl chr10:90,140,183...90,151,042
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 chr10:90,192,608...90,214,486
Ensembl chr10:90,192,627...90,214,486
JBrowse link
G Lsm12 LSM12 homolog ISO ClinVar Annotator: match by term: Grn-related frontotemporal lobar degeneration with Tdp43 inclusions ClinVar PMID:28492532 NCBI chr10:90,105,562...90,127,600
Ensembl chr10:90,105,562...90,127,600
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 chr10:90,342,033...90,351,172
Ensembl chr10:90,342,051...90,351,170
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 chr10:90,351,899...90,356,905
Ensembl chr10:90,351,900...90,356,242
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 chr10:90,296,144...90,312,401
Ensembl chr10:90,296,141...90,312,386
JBrowse link
G Tardbp TAR DNA binding protein ISS OMIM:607485 MouseDO NCBI chr 5:165,432,089...165,442,232
Ensembl chr 5:165,432,095...165,442,048
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 chr10:90,230,428...90,234,874
Ensembl chr10:90,230,441...90,234,873
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 chr10:90,250,275...90,265,772
Ensembl chr10:90,250,275...90,265,017
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 OMIM
ClinVar
PMID:7182974 PMID:15034582 PMID:16247064 PMID:16321991 PMID:16790606 PMID:16984901 PMID:17329348 PMID:17763460 PMID:17889967 PMID:18341608 PMID:19225410 PMID:19237541 PMID:19364651 PMID:19704082 PMID:20008565 PMID:20104022 PMID:20512113 PMID:20604808 PMID:21145000 PMID:21249466 PMID:21320982 PMID:21387114 PMID:21816654 PMID:21822278 PMID:21920633 PMID:21984748 PMID:22078486 PMID:22137929 PMID:22270372 PMID:22572540 PMID:22686199 PMID:22898872 PMID:22900631 PMID:22909335 PMID:23029473 PMID:23056506 PMID:23152587 PMID:23169451 PMID:23333620 PMID:23498975 PMID:24123792 PMID:24196964 PMID:24829604 PMID:25125609 PMID:25326637 PMID:25388089 PMID:25492614 PMID:25617006 PMID:25741868 PMID:25775548 PMID:26105173 PMID:26467025 PMID:26555887 PMID:26627873 PMID:27165006 PMID:27226613 PMID:27538664 PMID:27708273 PMID:27768726 PMID:28130640 PMID:28360103 PMID:28492532 PMID:28692196 PMID:30279455 PMID:31848255 NCBI chr 5:58,426,548...58,445,953
Ensembl chr 5:58,426,549...58,445,953
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
OMIM
PMID:11891683 PMID:23455423 PMID:25741868 PMID:28492532 NCBI chr 4:81,237,496...81,241,281
Ensembl chr 4:81,237,496...81,241,282
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
ClinVar Annotator: match by OMIM:615424
OMIM
ClinVar
PMID:20116073 PMID:23455423 PMID:25616961 PMID:25741868 NCBI chr 7:144,865,302...144,871,592
Ensembl chr 7:144,865,608...144,871,585
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 2:68,820,616...68,895,537 JBrowse link
G Hnrnpa1 heterogeneous nuclear ribonucleoprotein A1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:144,865,302...144,871,592
Ensembl chr 7:144,865,608...144,871,585
JBrowse link
G Hnrnpa2b1 heterogeneous nuclear ribonucleoprotein A2/B1 ISO DNA:missense mutation:cds:p.D290V (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:23455423 RGD:10395280 NCBI chr 4:81,237,496...81,241,281
Ensembl chr 4:81,237,496...81,241,282
JBrowse link
G Tnf tumor necrosis factor ISO protein:increased expression:plasma RGD PMID:24119107 RGD:10059681 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Vcp valosin-containing protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:25884947 NCBI chr 5:58,426,548...58,445,953
Ensembl chr 5:58,426,549...58,445,953
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 3:60,721,137...60,795,951
Ensembl chr 3:60,721,135...60,795,951
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 9:71,229,753...71,298,994
Ensembl chr 9:71,230,108...71,293,435
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 6:109,300,433...109,303,299
Ensembl chr 6:109,300,433...109,303,299
JBrowse link
G Hnmt histamine N-methyltransferase ISO RGD PMID:11880199 RGD:5509779 NCBI chr 3:905,111...937,038
Ensembl chr 3:904,765...937,102
JBrowse link
G Map2k6 mitogen-activated protein kinase kinase 6 ISO RGD PMID:12392790 RGD:7495833 NCBI chr10:98,707,160...98,823,054
Ensembl chr10:98,706,960...98,823,287
JBrowse link
G Mapt microtubule-associated protein tau ISO ClinVar Annotator: match by term: Pick's disease
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:172700
OMIM
ClinVar
CTD
PMID:9641683 PMID:10604746 PMID:11032905 PMID:11117542 PMID:11601501 PMID:11891833 PMID:18067537 PMID:23043292 PMID:25741868 PMID:26467025 PMID:27582388 PMID:27641626 PMID:27802239 PMID:28492532 NCBI chr10:92,289,002...92,386,517
Ensembl chr10:92,288,910...92,386,517
JBrowse link
G Psen1 presenilin 1 ISO ClinVar Annotator: match by term: Pick's disease
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9450754 PMID:15122701 PMID:15622541 NCBI chr 6:107,169,514...107,221,000
Ensembl chr 6:107,169,528...107,216,798
JBrowse link
G Snca synuclein alpha ISO protein:increased expression:dentate gyrus RGD PMID:12410393 RGD:6480200 NCBI chr 4:90,782,412...90,883,236
Ensembl chr 4:90,782,374...90,882,285
JBrowse link
G Sncb synuclein, beta ISO protein:increased expression:dentate gyrus RGD PMID:12410393 RGD:6480200 NCBI chr17:10,384,472...10,392,776
Ensembl chr17:10,384,511...10,392,843
JBrowse link
G Tardbp TAR DNA binding protein ISO RGD PMID:18091558 RGD:5687194 NCBI chr 5:165,432,089...165,442,232
Ensembl chr 5:165,432,095...165,442,048
JBrowse link
Primary Progressive Nonfluent 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 7:63,655,247...63,687,978
Ensembl chr 7:63,655,247...63,687,978
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16918
    Diseases of the Aged 1280
      dementia 708
        Frontotemporal Lobar Degeneration 86
          GRN-related frontotemporal lobar degeneration with TDP43 inclusions 13
          Pick Complex 0
          Primary Progressive Nonfluent Aphasia 1
          frontotemporal dementia + 82
Path 2
Term Annotations click to browse term
  disease 16918
    disease of anatomical entity 16286
      nervous system disease 11864
        central nervous system disease 10197
          brain disease 9570
            disease of mental health 6930
              cognitive disorder 1941
                dementia 708
                  Frontotemporal Lobar Degeneration 86
                    GRN-related frontotemporal lobar degeneration with TDP43 inclusions 13
                    Pick Complex 0
                    Primary Progressive Nonfluent Aphasia 1
                    frontotemporal dementia + 82
paths to the root