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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 chr20:57,668,371...57,684,111
Ensembl chr20:57,667,706...57,677,342 		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 chr10:16,691,927...16,694,346
Ensembl chr10:16,691,758...16,695,398 		JBrowse link
G BACE2 beta-secretase 2 ISO mRNA,protein, activity:increased expression, increased activity:gyrus: RGD PMID:22074738 RGD:13782172 NCBI chr31:35,714,003...35,760,686
Ensembl chr31:35,713,149...35,760,681 		JBrowse link
G CCNF cyclin F ISO ClinVar Annotator: match by term: Frontotemporal dementia ClinVar NCBI chr 6:38,572,883...38,592,465
Ensembl chr 6:38,574,234...38,592,435 		JBrowse link
G CHMP2B charged multivesicular body protein 2B no_association ISO ClinVar Annotator: match by term: Frontotemporal dementia RGD
ClinVar		 PMID:16979267 PMID:25741868 PMID:26467025 PMID:28492532 RGD:5688721 NCBI chr31:789,586...817,925
Ensembl chr31:791,139...817,895 		JBrowse link
G CHRNA4 cholinergic receptor nicotinic alpha 4 subunit ISO ClinVar Annotator: match by term: Frontotemporal dementia ClinVar PMID:28492532 NCBI chr24:47,024,948...47,036,507
Ensembl chr24:47,025,187...47,042,266 		JBrowse link
G CHRNB4 cholinergic receptor nicotinic beta 4 subunit ISO ClinVar Annotator: match by term: Frontotemporal dementia ClinVar NCBI chr13:38,312,537...38,327,242
Ensembl chr13:38,312,173...38,328,341 		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 chr 9:9,708,696...9,763,281
Ensembl chr 9:9,714,204...9,763,402 		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 chr 4:58,980,699...59,010,683
Ensembl chr 4:58,980,788...59,010,510 		JBrowse link
G DCTN1 dynactin subunit 1 ISO ClinVar Annotator: match by term: Frontotemporal dementia ClinVar PMID:25741868 PMID:28492532 PMID:35873773 NCBI chr17:48,728,096...48,759,187
Ensembl chr17:48,728,270...48,759,147 		JBrowse link
G ERBB4 erb-b2 receptor tyrosine kinase 4 ISO ClinVar Annotator: match by term: Frontotemporal dementia ClinVar PMID:28492532 PMID:35873773 NCBI chr37:19,029,647...20,134,576
Ensembl chr37:19,037,217...20,134,426 		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 6:17,059,904...17,071,227
Ensembl chr 6:17,060,061...17,071,178 		JBrowse link
G GLT8D1 glycosyltransferase 8 domain containing 1 ISO ClinVar Annotator: match by term: Frontotemporal dementia ClinVar NCBI chr20:37,093,826...37,103,213
Ensembl chr20:37,093,653...37,103,211 		JBrowse link
G GRN granulin precursor ISO 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 ClinVar PMID:9536098 PMID:16199547 PMID:16862116 PMID:16950801 PMID:17030534 More... NCBI chr 9:19,077,430...19,085,443
Ensembl chr 9:19,077,427...19,082,268 		JBrowse link
G HNRNPA2B1 heterogeneous nuclear ribonucleoprotein A2/B1 ISO ClinVar Annotator: match by term: Frontotemporal dementia ClinVar PMID:23455423 PMID:25741868 NCBI chr14:39,498,805...39,509,034
Ensembl chr14:39,500,897...39,508,952 		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 Ensembl chr 9:9,381,737...9,565,976
Ensembl chr 9:9,381,737...9,565,976 		JBrowse link
G LRRK2 leucine rich repeat kinase 2 ISO ClinVar Annotator: match by term: Frontotemporal dementia ClinVar NCBI chr27:13,282,824...13,420,917
Ensembl chr27:13,283,756...13,420,870 		JBrowse link
G MAPT microtubule associated protein tau no_association
susceptibility		 ISO DNA:haplotype
ClinVar Annotator: match by term: FTLD WITH TAU INCLUSIONS | 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 | ClinVar Annotator: match by term: Semantic dementia		 RGD
ClinVar
OMIM		 PMID:1416801 PMID:2273997 PMID:7783864 PMID:7936288 PMID:7977375 More... RGD:8158108 NCBI chr 9:9,572,174...9,674,082
Ensembl chr 9:9,570,557...9,674,349 		JBrowse link
G MARCHF4 membrane associated ring-CH-type finger 4 ISO ClinVar Annotator: match by term: Frontotemporal dementia ClinVar PMID:29476165 NCBI chr37:23,218,664...23,330,115
Ensembl chr37:23,220,458...23,330,077 		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 2:84,976,366...84,987,376
Ensembl chr 2:84,976,456...84,989,797 		JBrowse link
G MEF2C myocyte enhancer factor 2C ISO ClinVar Annotator: match by term: Frontotemporal dementia ClinVar NCBI chr 3:19,778,997...19,948,203
Ensembl chr 3:19,779,007...19,943,852 		JBrowse link
G MOBP myelin associated oligodendrocyte basic protein disease_progression ISO DNA:SNP: :rs1768208(human) RGD PMID:24994843 RGD:27226701 NCBI chr23:9,121,277...9,176,128
Ensembl chr23:9,121,319...9,161,972 		JBrowse link
G NEFL neurofilament light chain ISO protein:increased expression:CSF (human) RGD PMID:29391125 RGD:127285384 NCBI chr25:32,463,361...32,468,965
Ensembl chr25:32,463,452...32,467,224 		JBrowse link
G OPTN optineurin ISO ClinVar Annotator: match by term: Frontotemporal dementia ClinVar NCBI chr 2:23,356,471...23,390,569
Ensembl chr 2:23,357,237...23,392,511 		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 chr31:769,454...788,761
Ensembl chr31:769,487...787,626 		JBrowse link
G PRKN parkin RBR E3 ubiquitin protein ligase disease_progression ISO RGD PMID:18817929 RGD:10412726 NCBI chr 1:49,886,887...51,201,930
Ensembl chr 1:49,889,005...51,201,764 		JBrowse link
G PSEN1 presenilin 1 ISO 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
ClinVar		 PMID:7596406 PMID:7623585 PMID:8538334 PMID:8634712 PMID:8733303 More... NCBI chr 8:46,495,551...46,569,532
Ensembl chr 8:46,495,624...46,569,532 		JBrowse link
G RNASE4 ribonuclease, RNase A family, 4 ISO ClinVar Annotator: match by term: Frontotemporal dementia ClinVar PMID:25741868 PMID:28492532 NCBI chr15:17,981,661...17,998,644
Ensembl chr15:17,981,647...18,004,631 		JBrowse link
G SETX senataxin ISO ClinVar Annotator: match by term: Frontotemporal dementia ClinVar PMID:26467025 PMID:28492532 NCBI chr 9:51,900,004...51,980,694
Ensembl chr 9:51,901,233...51,978,833 		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 chr 9:9,703,119...9,705,300
Ensembl chr 9:9,703,230...9,705,212 		JBrowse link
G TARDBP TAR DNA binding protein ISO ClinVar Annotator: match by term: Frontotemporal dementia | ClinVar Annotator: match by term: Multiple system tauopathy with presenile dementia ClinVar PMID:19411082 PMID:20082726 PMID:20675015 PMID:20708823 PMID:22575358 More... NCBI chr 2:84,987,752...84,998,136
Ensembl chr 2:84,989,952...84,998,593 		JBrowse link
G TM2D3 TM2 domain containing 3 ISO ClinVar Annotator: match by term: Frontotemporal dementia ClinVar PMID:25741868 NCBI chr 3:39,421,763...39,434,014
Ensembl chr 3:39,421,549...39,511,268 		JBrowse link
G TNK1 tyrosine kinase non receptor 1 ISO ClinVar Annotator: match by term: Frontotemporal dementia ClinVar PMID:25741868 NCBI chr 5:32,320,029...32,326,829
Ensembl chr 5:32,321,272...32,326,158 		JBrowse link
G TREML1 triggering receptor expressed on myeloid cells like 1 ISO ClinVar Annotator: match by term: Frontotemporal dementia ClinVar PMID:23582655 PMID:24119542 PMID:25186855 PMID:25741868 PMID:28492532 More... NCBI chr12:9,915,692...9,928,322
Ensembl chr12:9,915,677...9,928,174 		JBrowse link
G VCP valosin containing protein ISO OMIM:600274 MouseDO NCBI chr11:51,636,986...51,651,749
Ensembl chr11:51,637,411...51,651,714 		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 chr30:26,600,181...26,776,347
Ensembl chr30:26,601,513...26,776,763 		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 OMIM
ClinVar		 PMID:19377476 PMID:21857683 PMID:22560112 PMID:22892309 PMID:23138764 More... NCBI chr  X:47,860,923...47,864,282 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 frontotemporal dementia | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 22 OMIM
ClinVar		 PMID:25374358 PMID:25741868 NCBI chr37:25,799,075...25,803,257
Ensembl chr37:25,796,107...25,802,892 		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, autosomal recessive | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 6 OMIM
ClinVar		 PMID:9536098 PMID:12840784 PMID:12858291 PMID:16199547 PMID:17576681 More... NCBI chr 6:17,059,904...17,071,227
Ensembl chr 6:17,060,061...17,071,178 		JBrowse link
G VCP valosin containing protein ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 6 ClinVar PMID:30103325 NCBI chr11:51,636,986...51,651,749
Ensembl chr11:51,637,411...51,651,714 		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 chr30:23,605,724...23,732,038
Ensembl chr30:23,606,517...23,731,823 		JBrowse link
G C9orf72 C9orf72-SMCR8 complex subunit ISO ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis/Frontotemporal Dementia ClinVar NCBI chr11:45,664,942...45,688,777
Ensembl chr11:45,666,293...45,688,780 		JBrowse link
G TTC3 tetratricopeptide repeat domain 3 ISO ClinVar Annotator: match by term: Corticobasal syndrome ClinVar PMID:25741868 NCBI chr31:32,239,895...32,348,182
Ensembl chr31:32,213,438...32,347,195 		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 chr11:2,279,983...2,504,630
Ensembl chr11:2,280,108...2,502,635 		JBrowse link
G C9orf72 C9orf72-SMCR8 complex subunit ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 OMIM
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr11:45,664,942...45,688,777
Ensembl chr11:45,666,293...45,688,780 		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 chr11:1,966,612...1,998,620
Ensembl chr11:1,927,888...1,998,604 		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 chr11:2,014,271...2,016,704
Ensembl chr11:2,015,695...2,016,693 		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 chr11:2,577,988...2,598,893
Ensembl chr11:2,577,988...2,597,575 		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 chr11:2,050,753...2,059,999
Ensembl chr11:2,050,871...2,059,999 		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 chr11:1,893,927...1,897,028
Ensembl chr11:1,894,380...1,897,752 		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 chr11:1,915,622...1,927,598
Ensembl chr11:1,918,133...1,963,836 		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 chr11:1,883,440...1,892,949
Ensembl chr11:1,882,976...1,913,145 		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 chr11:2,062,623...2,127,613
Ensembl chr11:2,052,901...2,127,746 		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 chr11:1,859,776...1,869,289
Ensembl chr11:1,859,465...1,870,755 		JBrowse link
G ZNF879 zinc finger protein 879 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ClinVar PMID:26925868 PMID:28492532 NCBI chr11:2,516,118...2,551,379
Ensembl chr11:2,519,462...2,554,329 		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 C26H22orf15 chromosome 26 C22orf15 homolog ISO ClinVar Annotator: match by term: FTDALS2 ClinVar PMID:28492532 NCBI chr26:28,744,203...28,747,320
Ensembl chr26:28,745,183...28,746,455 		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 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:22535186 PMID:24934289 PMID:25113787 More... NCBI chr26:28,742,466...28,744,370
Ensembl chr26:28,742,526...28,744,369 		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 OMIM
ClinVar		 PMID:11473345 PMID:11992264 PMID:14584883 PMID:15125799 PMID:15176995 More... NCBI chr11:1,859,776...1,869,289
Ensembl chr11:1,859,465...1,870,755 		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 chr10:1,637,007...1,666,790
Ensembl chr10:1,636,932...1,664,767 		JBrowse link
G TBK1 TANK binding kinase 1 ISO ClinVar Annotator: match by term: FTDALS4 | ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:21447600 PMID:22851595 More... NCBI chr10:7,169,664...7,208,890
Ensembl chr10:7,168,007...7,208,899 		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 chr11:50,111,003...50,155,937
Ensembl chr11:50,113,073...50,132,284 		JBrowse link
G AQP3 aquaporin 3 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr11:50,517,509...50,524,565 JBrowse link
G AQP7 aquaporin 7 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr11:50,474,007...50,488,191 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 chr11:52,191,170...52,200,769
Ensembl chr11:52,196,462...52,200,778 		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 chr11:51,294,605...51,301,979
Ensembl chr11:51,295,030...51,301,547 		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 chr11:51,680,308...51,692,340
Ensembl chr11:51,681,329...51,683,969 		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 chr11:50,223,880...50,276,745
Ensembl chr11:50,226,242...50,276,730 		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 chr11:50,348,833...50,363,532
Ensembl chr11:50,350,999...50,363,581 		JBrowse link
G CA9 carbonic anhydrase 9 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr11:52,205,619...52,211,281
Ensembl chr11:52,205,668...52,211,267 		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 chr11:52,194,412...52,196,817
Ensembl chr11:52,194,293...52,196,815 		JBrowse link
G CCIN calicin ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr11:52,637,580...52,640,121 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 chr11:51,357,706...51,359,207
Ensembl chr11:51,340,530...51,359,365 		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 chr11:51,375,107...51,375,790 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 chr11:51,334,870...51,338,752
Ensembl chr11:51,334,778...51,335,591 		JBrowse link
G CD72 CD72 molecule ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr11:52,170,893...52,179,035
Ensembl chr11:52,170,893...52,178,301 		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 chr11:50,363,488...50,376,081 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 chr11:52,144,806...52,164,782
Ensembl chr11:52,144,801...52,146,823 		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 chr11:52,636,328...52,681,258
Ensembl chr11:52,615,039...52,681,270 		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 chr11:51,226,951...51,266,431
Ensembl chr11:51,227,509...51,245,188 		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 chr11:52,260,340...52,265,085
Ensembl chr11:52,260,420...52,266,515 		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 chr11:50,843,818...50,878,833
Ensembl chr11:50,845,773...50,878,838 		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 chr11:51,287,966...51,294,049
Ensembl chr11:51,287,967...51,294,051 		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 chr11:51,080,080...51,205,381
Ensembl chr11:51,106,370...51,237,467 		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 chr11:50,156,089...50,168,379
Ensembl chr11:50,156,089...50,167,536 		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 chr11:51,587,728...51,596,911
Ensembl chr11:51,587,295...51,595,839 		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 chr11:51,205,439...51,207,447 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 chr11:54,072,993...54,079,024
Ensembl chr11:54,073,313...54,078,598 		JBrowse link
G FAM205A family with sequence similarity 205 member A ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr11:51,429,911...51,436,517
Ensembl chr11:51,430,091...51,435,019 		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 chr11:51,092,364...51,144,324
Ensembl chr11:51,092,470...51,144,168 		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 chr11:52,348,496...52,351,671
Ensembl chr11:52,348,231...52,356,719 		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 chr11:51,652,939...51,659,766
Ensembl chr11:51,652,944...51,659,751 		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 chr11:53,833,335...53,885,416
Ensembl chr11:53,835,003...53,896,930 		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 chr11:53,901,625...54,051,885
Ensembl chr11:53,939,807...54,051,756 		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 chr11:51,319,812...51,323,337
Ensembl chr11:51,319,347...51,334,802 		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 chr11:52,264,959...52,277,298
Ensembl chr11:52,265,070...52,277,213 		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 chr11:52,622,460...52,634,602
Ensembl chr11:52,615,039...52,681,270 		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 chr11:52,688,295...52,731,160
Ensembl chr11:52,689,343...52,731,231 		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 chr11:53,748,389...53,759,692
Ensembl chr11:53,748,414...53,759,693 		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 chr11:52,342,564...52,344,994
Ensembl chr11:52,342,567...52,344,947 		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 chr11:52,420,070...52,421,097
Ensembl chr11:52,420,011...52,420,629 		JBrowse link
G IL11RA interleukin 11 receptor subunit alpha ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr11:51,324,915...51,341,981 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 chr11:50,974,376...51,049,862
Ensembl chr11:50,976,627...51,022,382 		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 chr11:52,970,699...53,067,169
Ensembl chr11:52,977,260...53,067,172 		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 chr11:52,280,528...52,281,559
Ensembl chr11:52,280,528...52,281,541 		JBrowse link
G MYORG myogenesis regulating glycosidase (putative) ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr11:51,070,088...51,077,595
Ensembl chr11:51,071,707...51,073,851 		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 chr11:49,821,998...49,833,624
Ensembl chr22:3,526,115...3,526,501 		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 chr11:50,387,368...50,462,978
Ensembl chr11:50,387,883...50,462,428 		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 chr11:50,533,150...50,544,770
Ensembl chr11:50,533,453...50,545,094 		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 chr11:52,283,680...52,339,247
Ensembl chr11:52,321,590...52,339,249 		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 chr11:51,049,992...51,064,317
Ensembl chr11:51,050,053...51,064,178 		JBrowse link
G OR13C11B olfactory receptor family 13 subfamily C member 11B ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr11:52,449,404...52,450,363 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 chr11:52,399,129...52,400,349
Ensembl chr11:52,399,129...52,400,067 		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 chr11:53,194,905...53,390,204
Ensembl chr11:53,201,344...53,390,974 		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 chr11:51,552,345...51,580,762
Ensembl chr11:51,569,770...51,577,059 		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 chr11:51,661,954...51,671,169
Ensembl chr11:51,663,577...51,671,178 		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 chr11:53,793,324...53,808,725
Ensembl chr11:53,793,042...53,808,724 		JBrowse link
G PRSS2 serine protease 2 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr16:6,778,109...6,781,404 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 chr11:52,519,303...52,607,753
Ensembl chr11:52,519,317...52,607,217 		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 chr11:52,276,151...52,280,482
Ensembl chr11:52,277,189...52,281,639 		JBrowse link
G RIGI RNA sensor RIG-I ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr11:49,764,252...49,799,626
Ensembl chr11:49,764,267...49,799,527 		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 chr11:52,764,216...52,827,993
Ensembl chr11:52,764,220...52,901,983 		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 chr11:51,284,382...51,286,891 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 chr11:52,074,234...52,144,854
Ensembl chr11:52,120,179...52,144,356 		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 chr11:51,310,672...51,313,426
Ensembl chr11:51,311,085...51,313,400 		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 chr11:52,189,585...52,191,255
Ensembl chr11:52,190,215...52,191,308 		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 chr11:50,172,679...50,195,719
Ensembl chr11:50,174,153...50,195,644 		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 chr11:52,339,338...52,341,642
Ensembl chr11:52,339,339...52,341,522 		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 chr11:51,624,571...51,629,189
Ensembl chr11:51,625,604...51,629,131 		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 chr11:50,340,068...50,345,777
Ensembl chr11:50,340,145...50,345,777 		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 chr11:51,078,682...51,092,014
Ensembl chr11:51,078,808...51,091,818 		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 chr11:51,675,963...51,679,313
Ensembl chr11:51,675,963...51,679,199 		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 chr11:52,166,049...52,170,611
Ensembl chr11:52,166,276...52,170,309 		JBrowse link
G TLN1 talin 1 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr11:52,227,286...52,260,112
Ensembl chr11:52,227,611...52,259,915 		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 chr11:49,980,861...49,983,122 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 chr11:52,344,566...52,387,049
Ensembl chr11:52,355,933...52,386,466 		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 chr11:53,896,300...53,901,523
Ensembl chr11:53,896,305...53,901,489 		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 chr11:49,809,156...49,821,224
Ensembl chr11:49,809,465...49,821,075 		JBrowse link
G TPM2 tropomyosin 2 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr11:52,212,372...52,219,947
Ensembl chr11:52,212,401...52,219,923 		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 chr11:54,056,251...54,071,870
Ensembl chr11:54,056,312...54,071,692 		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 chr11:50,890,090...50,974,901
Ensembl chr11:50,918,939...50,974,159 		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 chr11:50,679,601...50,803,455
Ensembl chr11:50,675,525...50,802,940 		JBrowse link
G UBE2R2 ubiquitin conjugating enzyme E2 R2 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr11:50,554,173...50,678,284
Ensembl chr11:50,554,349...50,675,514 		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 chr11:51,707,968...51,941,148
Ensembl chr11:51,708,302...51,940,955 		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 OMIM
ClinVar		 PMID:7182974 PMID:9536098 PMID:12446676 PMID:15034582 PMID:16247064 More... NCBI chr11:51,636,986...51,651,749
Ensembl chr11:51,637,411...51,651,714 		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 chr11:53,760,510...53,774,864
Ensembl chr11:53,762,839...53,774,921 		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 chr11:53,434,007...53,686,187
Ensembl chr11:53,438,985...53,685,855 		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 ClinVar Annotator: match by term: CHMP2B-related condition | ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 OMIM
ClinVar		 PMID:9536098 PMID:16041373 PMID:16431024 PMID:16807408 PMID:16941655 More... NCBI chr31:789,586...817,925
Ensembl chr31:791,139...817,895 		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 chr31:769,454...788,761
Ensembl chr31:769,487...787,626 		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 chr 6:38,572,883...38,592,465
Ensembl chr 6:38,574,234...38,592,435 		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 chr 2:64,561,684...64,628,829
Ensembl chr 2:64,562,503...64,628,175 		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 chr 9:19,217,508...19,229,451
Ensembl chr 9:19,217,721...19,226,242 		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 chr 9:19,196,688...19,204,724
Ensembl chr 9:19,196,693...19,202,447 		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 chr 9:19,299,619...19,304,038
Ensembl chr 9:19,260,240...19,303,995 		JBrowse link
G GRN granulin precursor ISO ClinVar Annotator: match by term: GRN-related frontotemporal lobar degeneration with Tdp43 inclusions OMIM
ClinVar		 PMID:6497355 PMID:9152110 PMID:9259373 PMID:9536098 PMID:9633693 More... NCBI chr 9:19,077,430...19,085,443
Ensembl chr 9:19,077,427...19,082,268 		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 chr 9:19,261,075...19,297,669
Ensembl chr 9:19,260,893...19,297,623 		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 chr 9:19,230,345...19,245,518
Ensembl chr 9:19,230,399...19,245,624 		JBrowse link
G LSM12 LSM12 homolog ISO ClinVar Annotator: match by term: GRN-related frontotemporal lobar degeneration with Tdp43 inclusions ClinVar PMID:28492532 NCBI chr 9:19,306,421...19,328,278
Ensembl chr 9:19,306,461...19,328,050 		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 chr 9:19,108,330...19,117,908
Ensembl chr 9:19,107,606...19,117,884 		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 chr 9:19,103,104...19,107,691
Ensembl chr 9:19,102,787...19,107,694 		JBrowse link
G SLC4A1 solute carrier family 4 member 1 ISO ClinVar Annotator: match by term: GRN-related frontotemporal lobar degeneration with Tdp43 inclusions ClinVar PMID:28492532 NCBI chr 9:19,142,884...19,159,449
Ensembl chr 9:19,146,480...19,157,915 		JBrowse link
G TARDBP TAR DNA binding protein ISO OMIM:607485 MouseDO NCBI chr 2:84,987,752...84,998,136
Ensembl chr 2:84,989,952...84,998,593 		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 chr 9:19,204,802...19,209,275
Ensembl chr 9:19,204,793...19,208,571 		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 chr 9:19,177,778...19,189,805
Ensembl chr 9:19,179,174...19,189,181 		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 chr 4:29,250,164...29,266,713
Ensembl chr 4:29,224,247...29,266,008 		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 chr11:51,636,986...51,651,749
Ensembl chr11:51,637,411...51,651,714 		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 chr14:39,498,805...39,509,034
Ensembl chr14:39,500,897...39,508,952 		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 chr27:1,013,459...1,020,083
Ensembl chr27:1,015,868...1,019,891 		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 chr32:30,073,541...30,166,904
Ensembl chr32:30,073,950...30,166,295 		JBrowse link
G HNRNPA1 heterogeneous nuclear ribonucleoprotein A1 ISO ClinVar Annotator: match by term: Inclusion body myopathy with Paget disease of bone and frontotemporal dementia ClinVar PMID:23455423 PMID:25741868 NCBI chr27:1,013,459...1,020,083
Ensembl chr27:1,015,868...1,019,891 		JBrowse link
G HNRNPA2B1 heterogeneous nuclear ribonucleoprotein A2/B1 ISO DNA:missense mutation:cds:p.D290V (human)
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:23455423 RGD:10395280 NCBI chr14:39,498,805...39,509,034
Ensembl chr14:39,500,897...39,508,952 		JBrowse link
G TNF tumor necrosis factor ISO protein:increased expression:plasma RGD PMID:24119107 RGD:10059681 NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425 		JBrowse link
G VCP valosin containing protein ISO 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 ClinVar PMID:7182974 PMID:9536098 PMID:15034582 PMID:16247064 PMID:16321991 More... NCBI chr11:51,636,986...51,651,749
Ensembl chr11:51,637,411...51,651,714 		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 chr36:19,032,376...19,103,382
Ensembl chr36:19,010,717...19,103,292 		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 chr37:15,921,214...15,978,492
Ensembl chr37:15,939,138...15,977,556 		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 8:48,330,856...48,334,273
Ensembl chr 8:48,331,026...48,333,467 		JBrowse link
G HNMT histamine N-methyltransferase ISO RGD PMID:11880199 RGD:5509779 NCBI chr19:40,656,266...40,702,498
Ensembl chr19:40,655,161...40,702,218 		JBrowse link
G MAP2K6 mitogen-activated protein kinase kinase 6 ISO RGD PMID:12392790 RGD:7495833 NCBI chr 9:15,840,714...15,962,400
Ensembl chr 9:15,840,983...15,952,026 		JBrowse link
G MAPT microtubule associated protein tau susceptibility 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 ClinVar
OMIM		 PMID:2273997 PMID:8673924 PMID:9629852 PMID:9641683 PMID:9736786 More... NCBI chr 9:9,572,174...9,674,082
Ensembl chr 9:9,570,557...9,674,349 		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 OMIM
ClinVar		 PMID:7596406 PMID:7623585 PMID:8538334 PMID:8634712 PMID:8733303 More... NCBI chr 8:46,495,551...46,569,532
Ensembl chr 8:46,495,624...46,569,532 		JBrowse link
G SNCA synuclein alpha ISO protein:increased expression:dentate gyrus RGD PMID:12410393 RGD:6480200 NCBI chr32:12,915,871...13,079,338
Ensembl chr32:12,916,215...13,060,383 		JBrowse link
G SNCB synuclein beta ISO protein:increased expression:dentate gyrus RGD PMID:12410393 RGD:6480200 NCBI chr 4:36,710,236...36,719,455
Ensembl chr 4:36,616,039...36,764,501 		JBrowse link
G TARDBP TAR DNA binding protein ISO RGD PMID:18091558 RGD:5687194 NCBI chr 2:84,987,752...84,998,136
Ensembl chr 2:84,989,952...84,998,593 		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 chr 9:19,077,430...19,085,443
Ensembl chr 9:19,077,427...19,082,268 		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 chr24:16,845,224...16,862,319
Ensembl chr24:16,846,207...16,859,815 		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 chr10:7,169,664...7,208,890
Ensembl chr10:7,168,007...7,208,899 		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 chr 9:9,572,174...9,674,082
Ensembl chr 9:9,570,557...9,674,349 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15602
    Diseases of the Aged 1250
      dementia 852
        Frontotemporal Lobar Degeneration 168
          frontotemporal dementia 165
            Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis + 108
            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 15602
    disease of anatomical entity 15181
      nervous system disease 13236
        central nervous system disease 11874
          brain disease 11157
            disease of mental health 8082
              cognitive disorder 2162
                dementia 852
                  Frontotemporal Lobar Degeneration 168
                    frontotemporal dementia 165
                      Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis + 108
                      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