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
Accession: DOID:9002031
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
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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 3:96,165,042...96,215,621
Ensembl chr 3:96,165,042...96,215,615
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Chmp2b
charged multivesicular body protein 2B
no_association
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:17956895 PMID:22366797 PMID:20412296
RGD:5688397 , RGD:5688712
NCBI chr11:3,337,478...3,364,015
Ensembl chr11:3,337,494...3,385,181
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Fus
Fus RNA binding protein
ISO
RGD
PMID:21847626 PMID:21408206
RGD:5509902 , RGD:9685710
NCBI chr 1:182,576,479...182,590,417
Ensembl chr 1:182,576,545...182,590,414
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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 RGD
PMID:20154673 PMID:19158106 PMID:18192287 PMID:17228326 PMID:17950702 PMID:22797721 More...
RGD:10401634 , RGD:10401650 , RGD:10401647 , RGD:10401638 , RGD:10401637
NCBI chr10:87,387,672...87,393,777
Ensembl chr10:87,387,638...87,393,775
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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 6:129,702,376...129,707,907
Ensembl chr 6:129,702,383...129,707,268
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Nefl
neurofilament light chain
ISO
protein:increased expression:CSF (human)
RGD
PMID:29368621
RGD:127284889
NCBI chr15:42,301,920...42,305,793
Ensembl chr15:42,301,916...42,305,793
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Optn
optineurin
ISO
RGD
PMID:21360076
RGD:6480505
NCBI chr17:73,209,572...73,260,251
Ensembl chr17:73,209,575...73,260,251
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RGD1359108
similar to RIKEN cDNA 3110043O21
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25442110 PMID:27713094
NCBI chr 5:49,766,340...49,791,434
Ensembl chr 5:49,766,325...49,791,408
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Sigmar1
sigma non-opioid intracellular receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24885036
NCBI chr 5:56,904,155...56,907,012
Ensembl chr 5:56,904,159...56,907,017
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Tardbp
TAR DNA binding protein
ISO
CTD Direct Evidence: marker/mechanism DNA:mutation:cds:p.A382T (human) protein:increased phosphorylation:brain
CTD RGD
PMID:24019256 PMID:24252504 PMID:24477737 PMID:26980269 PMID:22177996 PMID:21667065 PMID:20660618 PMID:17023659 More...
RGD:5687136 , RGD:5687172 , RGD:5687159 , RGD:5687158
NCBI chr 5:159,050,518...159,062,218
Ensembl chr 5:159,051,799...159,062,055
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Tmem106b
transmembrane protein 106B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20154673
NCBI chr 4:41,328,125...41,347,315
Ensembl chr 4:41,327,994...41,345,619
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Ubqln2
ubiquilin 2
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 15 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:19377476 PMID:21857683 PMID:22560112 PMID:22892309 PMID:23138764 PMID:23312802 PMID:24215460 PMID:24771548 PMID:25333069 PMID:25398946 PMID:25616961 PMID:25741868 PMID:26075709 PMID:26467025 PMID:28492532 PMID:28716533 PMID:30348461 PMID:34273246 PMID:35896380 More...
NCBI chr X:17,853,086...17,856,505
Ensembl chr X:17,853,114...17,856,505
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Tuba4a
tubulin, alpha 4A
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 22 with frontotemporal dementia | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 22
OMIM CTD ClinVar
PMID:25374358 PMID:25741868
NCBI chr 9:76,709,617...76,714,327
Ensembl chr 9:76,709,614...76,713,918
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Fus
Fus RNA binding protein
ISO ISS
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 6, autosomal recessive | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 6 OMIM:608030 CTD Direct Evidence: marker/mechanism DNA:mutations:cds:
OMIM ClinVar MouseDO CTD RGD
PMID:9536098 PMID:12840784 PMID:12858291 PMID:16199547 PMID:17576681 PMID:19251627 PMID:19251628 PMID:19450904 PMID:19741215 PMID:19741216 PMID:19861302 PMID:20018407 PMID:20124201 PMID:20138404 PMID:20142531 PMID:20224596 PMID:20232451 PMID:20385912 PMID:20472325 PMID:20544928 PMID:20577002 PMID:20579074 PMID:20598774 PMID:20606625 PMID:20621307 PMID:20655970 PMID:20660363 PMID:20668259 PMID:20668261 PMID:20674093 PMID:20699327 PMID:21109527 PMID:21128870 PMID:21158017 PMID:21261515 PMID:21280085 PMID:21487023 PMID:21604077 PMID:21881207 PMID:21907581 PMID:21943958 PMID:21949354 PMID:21965298 PMID:22055719 PMID:22292843 PMID:22340366 PMID:22722621 PMID:22863194 PMID:22980027 PMID:23046859 PMID:23056579 PMID:23085990 PMID:23217123 PMID:23257289 PMID:23474818 PMID:23545117 PMID:23577159 PMID:23731953 PMID:23834335 PMID:23834483 PMID:23881933 PMID:24033266 PMID:24036913 PMID:24080306 PMID:24204307 PMID:24262168 PMID:24280224 PMID:24439481 PMID:24575823 PMID:24738488 PMID:24899262 PMID:24908169 PMID:25173930 PMID:25274782 PMID:25289647 PMID:25324524 PMID:25382069 PMID:25457557 PMID:25525159 PMID:25558820 PMID:25585530 PMID:25625564 PMID:25631824 PMID:25681989 PMID:25741868 PMID:26251528 PMID:26452761 PMID:26467025 PMID:26500017 PMID:26601740 PMID:26725112 PMID:26788680 PMID:26795035 PMID:27123482 PMID:27604643 PMID:28273913 PMID:28288521 PMID:28429524 PMID:28430856 PMID:28492532 PMID:28642336 PMID:29525178 PMID:29547565 PMID:30279455 PMID:30349096 PMID:30455313 PMID:30507891 PMID:30747709 PMID:30879340 PMID:31069529 PMID:31475037 PMID:31630970 PMID:31682085 PMID:31692161 PMID:32038460 PMID:32116048 PMID:32638105 PMID:32951934 PMID:33082139 PMID:33159016 PMID:34518945 PMID:19251628 More...
RGD:9685712
NCBI chr 1:182,576,479...182,590,417
Ensembl chr 1:182,576,545...182,590,414
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Vcp
valosin-containing protein
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 6
ClinVar
PMID:30103325
NCBI chr 5:57,210,167...57,229,571
Ensembl chr 5:57,210,168...57,229,571
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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 PMID:30924900 PMID:31836585 More...
NCBI chr 7:9,691,452...9,711,466
Ensembl chr 7:9,691,449...9,711,425
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Ang
angiogenin
ISO
ClinVar Annotator: match by term: Frontotemporal dementia
ClinVar
PMID:25741868 PMID:28492532
NCBI chr15:24,312,711...24,323,361
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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:19606494 PMID:23559313 PMID:25741868 PMID:25965562 PMID:26131420 PMID:26462614 PMID:28492532 PMID:31694723 PMID:33855715 More...
NCBI chr 7:120,542,788...120,547,577
Ensembl chr 7:120,543,362...120,548,783
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Bace2
beta-secretase 2
ISO
mRNA,protein, activity:increased expression, increased activity:gyrus:
RGD
PMID:22074738
RGD:13782172
NCBI chr11:36,707,447...36,789,550
Ensembl chr11:36,707,458...36,789,546
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Ccnf
cyclin F
ISO
ClinVar Annotator: match by term: Frontotemporal dementia
ClinVar
NCBI chr10:13,253,073...13,279,140
Ensembl chr10:13,253,380...13,279,101
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Chmp2b
charged multivesicular body protein 2B
no_association
ISO ISS
DNA:mutations:cds DNA:mutations: : CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Frontotemporal dementia OMIM:600274
CTD ClinVar MouseDO RGD
PMID:16041373 PMID:25741868 PMID:26467025 PMID:28492532 PMID:16041373 PMID:19202337 PMID:16979267 More...
RGD:5688398 , RGD:5688716 , RGD:5688721
NCBI chr11:3,337,478...3,364,015
Ensembl chr11:3,337,494...3,385,181
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Chrna4
cholinergic receptor nicotinic alpha 4 subunit
ISO
ClinVar Annotator: match by term: Frontotemporal dementia
ClinVar
PMID:28492532
NCBI chr 3:168,136,246...168,157,839
Ensembl chr 3:168,136,266...168,156,957
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Chrnb4
cholinergic receptor nicotinic beta 4 subunit
ISO
ClinVar Annotator: match by term: Frontotemporal dementia
ClinVar
NCBI chr 8:55,417,583...55,437,027
Ensembl chr 8:55,418,313...55,437,027
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Crhr1
corticotropin releasing hormone receptor 1
ISO
ClinVar Annotator: match by term: Frontotemporal dementia
ClinVar
PMID:18628315 PMID:21094706 PMID:28492532
NCBI chr10:89,040,186...89,083,481
Ensembl chr10:89,040,203...89,083,481
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Csf1r
colony stimulating factor 1 receptor
ISO
ClinVar Annotator: match by term: Frontotemporal dementia
ClinVar
PMID:25741868 PMID:26476772 PMID:28492532 PMID:31836585
NCBI chr18:54,546,673...54,590,418
Ensembl chr18:54,546,659...54,590,415
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Dctn1
dynactin subunit 1
ISO
ClinVar Annotator: match by term: Frontotemporal dementia
ClinVar
PMID:25741868 PMID:28492532 PMID:35873773
NCBI chr 4:115,671,024...115,703,824
Ensembl chr 4:115,661,638...115,703,815
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Erbb4
erb-b2 receptor tyrosine kinase 4
ISO
ClinVar Annotator: match by term: Frontotemporal dementia
ClinVar
PMID:28492532 PMID:35873773
NCBI chr 9:69,523,733...70,596,743
Ensembl chr 9:69,531,481...70,596,595
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Fus
Fus RNA binding protein
ISO
ClinVar Annotator: match by term: Frontotemporal dementia
ClinVar
PMID:22863194 PMID:25382069 PMID:25558820 PMID:25741868 PMID:26467025 PMID:28430856 PMID:28492532 PMID:30279455 PMID:32638105 More...
NCBI chr 1:182,576,479...182,590,417
Ensembl chr 1:182,576,545...182,590,414
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Glt8d1
glycosyltransferase 8 domain containing 1
ISO
ClinVar Annotator: match by term: Frontotemporal dementia
ClinVar
NCBI chr16:6,192,269...6,207,227
Ensembl chr16:6,192,300...6,207,229
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Grn
granulin precursor
ISO
DNA:mutations, haploinsufficiency: : DNA:missense mutation:signal peptide:p.A9D(human) DNA:deletion: :g.102delC(humN) DNA:deletion:exon: CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Dementia, hereditary dysphasic disinhibition | ClinVar Annotator: match by term: Frontotemporal dementia | ClinVar Annotator: match by term: GRN-Related Frontotemporal Dementia | ClinVar Annotator: match by term: Multiple system tauopathy with presenile dementia
CTD ClinVar RGD
PMID:9536098 PMID:16199547 PMID:16862116 PMID:16950801 PMID:17030534 PMID:17228326 PMID:17371905 PMID:17576681 PMID:18183624 PMID:18184915 PMID:18192287 PMID:18234697 PMID:18314228 PMID:18543312 PMID:18565828 PMID:18723524 PMID:18838661 PMID:19020205 PMID:19158106 PMID:19683260 PMID:20020531 PMID:20028451 PMID:20045477 PMID:20142524 PMID:21403024 PMID:21454553 PMID:21482928 PMID:21800185 PMID:22028881 PMID:22312439 PMID:22491866 PMID:22608501 PMID:22781549 PMID:23463024 PMID:23684369 PMID:23724906 PMID:23742080 PMID:23759146 PMID:24503614 PMID:24569924 PMID:25104557 PMID:25525159 PMID:25741868 PMID:26159191 PMID:26467025 PMID:26652843 PMID:27632209 PMID:27790088 PMID:27997711 PMID:28430294 PMID:28492532 PMID:28749476 PMID:29724592 PMID:30054184 PMID:30279455 PMID:30992141 PMID:31031559 PMID:31600775 PMID:33980708 PMID:34162492 PMID:34435519 PMID:35896380 PMID:16862116 PMID:21933710 PMID:16983685 PMID:19012866 PMID:18855025 More...
RGD:5509588 , RGD:5509589 , RGD:5509602 , RGD:5509609 , RGD:5509612
NCBI chr10:87,387,672...87,393,777
Ensembl chr10:87,387,638...87,393,775
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Hnrnpa2b1
heterogeneous nuclear ribonucleoprotein A2/B1
ISO
ClinVar Annotator: match by term: Frontotemporal dementia
ClinVar
PMID:23455423 PMID:25741868
NCBI chr 4:80,534,659...80,545,297
Ensembl chr 4:80,534,651...80,545,249
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Kansl1
KAT8 regulatory NSL complex subunit 1
ISO
ClinVar Annotator: match by term: Frontotemporal dementia
ClinVar
PMID:18628315 PMID:21094706 PMID:28492532
NCBI chr10:89,237,667...89,368,735
Ensembl chr10:89,237,667...89,366,951
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Lrrk2
leucine-rich repeat kinase 2
ISO
ClinVar Annotator: match by term: Frontotemporal dementia
ClinVar RGD
PMID:17639429
RGD:5508418
NCBI chr 7:122,826,696...122,987,711
Ensembl chr 7:122,826,696...122,987,703
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Mapt
microtubule-associated protein tau
no_association
ISO
DNA:missense mutations, splice site mutations:exon, intron:multiple DNA:haplotype DNA:mutation:splice junction: IVS10+16C>T(human) CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: FTLD WITH TAU INCLUSIONS | ClinVar Annotator: match by term: Frontotemporal dementia | ClinVar Annotator: match by term: Multiple system tauopathy with presenile dementia
CTD ClinVar OMIM RGD
PMID:1416801 PMID:2273997 PMID:7783864 PMID:7936288 PMID:7977375 PMID:8673924 PMID:8926492 PMID:8940276 PMID:9088499 PMID:9382467 PMID:9392579 PMID:9536098 PMID:9629852 PMID:9636220 PMID:9641683 PMID:9736786 PMID:9789048 PMID:9824291 PMID:9973279 PMID:10076890 PMID:10100642 PMID:10202939 PMID:10208578 PMID:10214944 PMID:10219785 PMID:10318930 PMID:10329720 PMID:10374757 PMID:10412802 PMID:10443890 PMID:10446810 PMID:10489057 PMID:10514099 PMID:10553987 PMID:10604746 PMID:10624829 PMID:10627302 PMID:10767321 PMID:10775534 PMID:10797541 PMID:10802785 PMID:10820221 PMID:10821687 PMID:10822460 PMID:10932182 PMID:11013246 PMID:11032905 PMID:11071507 PMID:11102510 PMID:11115852 PMID:11117541 PMID:11117542 PMID:11117553 PMID:11159174 PMID:11255441 PMID:11278002 PMID:11402146 PMID:11456301 PMID:11641718 PMID:11708988 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:12615641 PMID:12722177 PMID:12796837 PMID:12847166 PMID:12876142 PMID:14517953 PMID:14568818 PMID:14755449 PMID:15047590 PMID:15178938 PMID:15178940 PMID:15365985 PMID:15372253 PMID:15376481 PMID:15489396 PMID:15765246 PMID:15831501 PMID:15883319 PMID:15940384 PMID:16219306 PMID:16240366 PMID:16416390 PMID:16477083 PMID:16495230 PMID:16495328 PMID:16495329 PMID:16503405 PMID:17071927 PMID:17186252 PMID:17526496 PMID:17576681 PMID:17923640 PMID:18067537 PMID:18093153 PMID:18284428 PMID:18525295 PMID:18587238 PMID:18628315 PMID:18803694 PMID:18851693 PMID:18854867 PMID:18992292 PMID:19091059 PMID:19263483 PMID:19304664 PMID:19365643 PMID:19458322 PMID:19659892 PMID:19766248 PMID:19786698 PMID:19884572 PMID:19914360 PMID:20045477 PMID:20377816 PMID:20561037 PMID:20598713 PMID:20634584 PMID:21094706 PMID:21176711 PMID:21339331 PMID:21343707 PMID:21344240 PMID:21558644 PMID:21849646 PMID:22022446 PMID:22118943 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:23680655 PMID:23692670 PMID:23727082 PMID:23752245 PMID:23881933 PMID:23885714 PMID:23990795 PMID:24018212 PMID:24081456 PMID:24121548 PMID:24150109 PMID:25319522 PMID:25466404 PMID:25592136 PMID:25604855 PMID:25617006 PMID:25671699 PMID:25683866 PMID:25741868 PMID:25937274 PMID:25942996 PMID:26028272 PMID:26136155 PMID:26200045 PMID:26220942 PMID:26269332 PMID:26295349 PMID:26297556 PMID:26333800 PMID:26426266 PMID:26467025 PMID:26519432 PMID:26601740 PMID:26931567 PMID:27082848 PMID:27094865 PMID:27439681 PMID:27582388 PMID:27594586 PMID:27606344 PMID:27641626 PMID:27776828 PMID:27802239 PMID:27975259 PMID:28097206 PMID:28130473 PMID:28268100 PMID:28334843 PMID:28462717 PMID:28492532 PMID:28923025 PMID:29091718 PMID:29253099 PMID:29525180 PMID:30090657 PMID:30279455 PMID:30528841 PMID:31059154 PMID:31404212 PMID:31542321 PMID:31836585 PMID:32028661 PMID:32171587 PMID:32843152 PMID:32961270 PMID:33006106 PMID:33580635 PMID:33612544 PMID:33772783 PMID:34274155 PMID:34561610 PMID:35020237 PMID:9641683 PMID:17386961 PMID:19766248 PMID:16407562 More...
RGD:1302531 , RGD:8158108 , RGD:10412699 , RGD:10412702
NCBI chr10:89,138,644...89,236,137
Ensembl chr10:89,138,627...89,236,129
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Marchf4
membrane associated ring-CH-type finger 4
ISO
ClinVar Annotator: match by term: Frontotemporal dementia
ClinVar
PMID:29476165
NCBI chr 9:74,078,437...74,196,070
Ensembl chr 9:74,078,434...74,198,199
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Masp2
MBL associated serine protease 2
ISO
ClinVar Annotator: match by term: Multiple system tauopathy with presenile dementia
ClinVar
PMID:24033266 PMID:28492532
NCBI chr 5:159,035,892...159,049,561
Ensembl chr 5:159,035,911...159,049,580
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Mef2c
myocyte enhancer factor 2C
ISO
ClinVar Annotator: match by term: Frontotemporal dementia
ClinVar
NCBI chr 2:13,973,299...14,136,065
Ensembl chr 2:13,993,438...14,132,880
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Mobp
myelin-associated oligodendrocyte basic protein
disease_progression
ISO
DNA:SNP: :rs1768208(human)
RGD
PMID:24994843
RGD:27226701
NCBI chr 8:119,869,504...119,899,605
Ensembl chr 8:119,869,626...119,899,563
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Nefl
neurofilament light chain
ISO
protein:increased expression:CSF (human)
RGD
PMID:29391125
RGD:127285384
NCBI chr15:42,301,920...42,305,793
Ensembl chr15:42,301,916...42,305,793
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Optn
optineurin
ISO
ClinVar Annotator: match by term: Frontotemporal dementia
ClinVar
NCBI chr17:73,209,572...73,260,251
Ensembl chr17:73,209,575...73,260,251
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Pou1f1
POU class 1 homeobox 1
ISO
ClinVar Annotator: match by term: Frontotemporal dementia
ClinVar
PMID:25741868 PMID:26467025 PMID:28492532
NCBI chr11:3,316,818...3,334,804
Ensembl chr11:3,317,058...3,334,801
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Prkn
parkin RBR E3 ubiquitin protein ligase
disease_progression
ISO
RGD
PMID:18817929
RGD:10412726
NCBI chr 1:48,688,651...49,882,520
Ensembl chr 1:48,690,556...49,882,555
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Psen1
presenilin 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: FTLD WITH TAU INCLUSIONS | ClinVar Annotator: match by term: Frontotemporal dementia | ClinVar Annotator: match by term: Multiple system tauopathy with presenile dementia
OMIM CTD ClinVar
PMID:7596406 PMID:7623585 PMID:8538334 PMID:8634712 PMID:8733303 PMID:8905716 PMID:8962160 PMID:8986743 PMID:9521423 PMID:9804121 PMID:10327206 PMID:11094121 PMID:11389157 PMID:11524469 PMID:11895378 PMID:12399144 PMID:12433263 PMID:12549925 PMID:14769392 PMID:15776278 PMID:17431506 PMID:18045903 PMID:19111578 PMID:20049724 PMID:20157243 PMID:20301414 PMID:20332427 PMID:20634584 PMID:21559374 PMID:22242180 PMID:22461631 PMID:22475797 PMID:22503161 PMID:22956200 PMID:23638752 PMID:24463146 PMID:24559647 PMID:25285942 PMID:25299611 PMID:25323700 PMID:25741868 PMID:26337232 PMID:26467025 PMID:26756738 PMID:27264813 PMID:27930341 PMID:28269784 PMID:28492532 PMID:30054184 PMID:30279455 PMID:31153663 PMID:31235249 PMID:31914229 PMID:32087291 PMID:32917274 PMID:35949106 More...
NCBI chr 6:103,323,052...103,375,088
Ensembl chr 6:103,323,120...103,371,650
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Rnase4
ribonuclease A family member 4
ISO
ClinVar Annotator: match by term: Frontotemporal dementia
ClinVar
PMID:25741868 PMID:28492532
NCBI chr15:24,312,765...24,330,112
Ensembl chr15:24,312,464...24,330,117
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Setx
senataxin
ISO
ClinVar Annotator: match by term: Frontotemporal dementia
ClinVar
PMID:26467025 PMID:28492532
NCBI chr 3:12,428,091...12,480,801
Ensembl chr 3:12,427,635...12,480,803
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Sppl2c
signal peptide peptidase like 2C
ISO
ClinVar Annotator: match by term: Frontotemporal dementia
ClinVar
PMID:18628315 PMID:21094706 PMID:28492532
NCBI chr10:89,095,279...89,097,487
Ensembl chr10:89,095,261...89,098,580
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Tardbp
TAR DNA binding protein
ISS ISO
OMIM:600274 | OMIM:600795 ClinVar Annotator: match by term: Frontotemporal dementia | ClinVar Annotator: match by term: Multiple system tauopathy with presenile dementia
MouseDO ClinVar
PMID:19411082 PMID:20082726 PMID:20675015 PMID:20708823 PMID:22575358 PMID:24033266 PMID:26467025 PMID:28492532 More...
NCBI chr 5:159,050,518...159,062,218
Ensembl chr 5:159,051,799...159,062,055
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Tm2d3
TM2 domain containing 3
ISO
ClinVar Annotator: match by term: Frontotemporal dementia
ClinVar
PMID:25741868
NCBI chr 1:119,267,194...119,277,094
Ensembl chr 1:119,264,576...119,277,099
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Tnk1
tyrosine kinase, non-receptor, 1
ISO
ClinVar Annotator: match by term: Frontotemporal dementia
ClinVar
PMID:25741868
NCBI chr10:54,571,396...54,580,547
Ensembl chr10:54,571,117...54,579,940
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Trem2
triggering receptor expressed on myeloid cells 2
ISS ISO
OMIM:600274 | OMIM:600795 ClinVar Annotator: match by term: Frontotemporal dementia
MouseDO ClinVar
PMID:23582655 PMID:24119542 PMID:25186855 PMID:25741868 PMID:28492532 PMID:29723869 More...
NCBI chr 9:12,647,605...12,654,190
Ensembl chr 9:12,647,259...12,654,170
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Vcp
valosin-containing protein
ISS
OMIM:600274
MouseDO
NCBI chr 5:57,210,167...57,229,571
Ensembl chr 5:57,210,168...57,229,571
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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 PMID:34875562 More...
NCBI chr 8:68,478,366...68,651,893
Ensembl chr 8:68,478,395...68,651,895
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Adam10
ADAM metallopeptidase domain 10
ISO
ClinVar Annotator: match by term: Corticobasal syndrome
ClinVar
PMID:25741868
NCBI chr 8:71,346,008...71,477,889
Ensembl chr 8:71,345,837...71,477,889
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RGD1359108
similar to RIKEN cDNA 3110043O21
ISO
ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis/Frontotemporal Dementia
ClinVar
NCBI chr 5:49,766,340...49,791,434
Ensembl chr 5:49,766,325...49,791,408
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Ttc3
tetratricopeptide repeat domain 3
ISO
ClinVar Annotator: match by term: Corticobasal syndrome
ClinVar
PMID:25741868
NCBI chr11:33,689,119...33,788,976
Ensembl chr11:33,688,952...33,788,975
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Adamts2
ADAM metallopeptidase with thrombospondin type 1 motif, 2
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
ClinVar
PMID:26925868 PMID:28492532
NCBI chr10:34,920,992...35,126,465
Ensembl chr10:34,921,049...35,123,821
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Canx
calnexin
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
ClinVar
PMID:26925868 PMID:28492532
NCBI chr10:34,623,865...34,656,866
Ensembl chr10:34,625,191...34,656,821
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Cby3
chibby family member 3
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
ClinVar
PMID:26925868 PMID:28492532
NCBI chr10:34,680,926...34,683,176
Ensembl chr10:34,677,770...34,682,784
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Grm6
glutamate metabotropic receptor 6
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
ClinVar
PMID:26925868 PMID:28492532
NCBI chr10:35,167,985...35,182,717
Ensembl chr10:35,167,985...35,182,717
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Hnrnph1
heterogeneous nuclear ribonucleoprotein H1
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
ClinVar
PMID:26925868 PMID:28492532
NCBI chr10:34,692,868...34,702,849
Ensembl chr10:34,693,555...34,702,846
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Ltc4s
leukotriene C4 synthase
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
ClinVar
PMID:26925868 PMID:28492532
NCBI chr10:34,560,476...34,562,790
Ensembl chr10:34,560,360...34,562,651
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Maml1
mastermind-like transcriptional coactivator 1
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
ClinVar
PMID:26925868 PMID:28492532
NCBI chr10:34,588,639...34,623,024
Ensembl chr10:34,588,646...34,623,338
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Mgat4b
alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase B
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
ClinVar
PMID:26925868 PMID:28492532
NCBI chr10:34,548,918...34,559,229
Ensembl chr10:34,549,433...34,559,229
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RGD1359108
similar to RIKEN cDNA 3110043O21
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
OMIM CTD ClinVar
PMID:25741868 PMID:26769963 PMID:28492532
NCBI chr 5:49,766,340...49,791,434
Ensembl chr 5:49,766,325...49,791,408
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Rufy1
RUN and FYVE domain containing 1
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
ClinVar
PMID:26925868 PMID:28492532
NCBI chr10:34,705,741...34,750,644
Ensembl chr10:34,705,741...34,750,644
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Spata31d1c
spermatogenesis associated 31 subfamily D, member 1C
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
ClinVar
PMID:26925868 PMID:28492532
NCBI chr17:159,402...164,239
Ensembl chr17:159,398...164,270
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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 PMID:15125799 PMID:15146436 PMID:15176995 PMID:15493999 PMID:15647816 PMID:15765181 PMID:16199547 PMID:16691492 PMID:16813535 PMID:17120186 PMID:17129171 PMID:17181397 PMID:17188686 PMID:17229007 PMID:17229008 PMID:17576681 PMID:18543015 PMID:18765443 PMID:19049332 PMID:19257822 PMID:19589897 PMID:20200946 PMID:20452972 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:24642144 PMID:24899140 PMID:25241215 PMID:25382069 PMID:25433461 PMID:25512523 PMID:25664955 PMID:25681989 PMID:25708934 PMID:25741868 PMID:25796131 PMID:25852467 PMID:26208961 PMID:26412716 PMID:26467025 PMID:26601740 PMID:26627873 PMID:26713335 PMID:26836416 PMID:26925868 PMID:27156075 PMID:27158844 PMID:27163810 PMID:27275741 PMID:27545679 PMID:27554286 PMID:27594680 PMID:27631370 PMID:28003435 PMID:28430856 PMID:28492532 PMID:28642336 PMID:28709720 PMID:29411640 PMID:29457785 PMID:29525180 PMID:29599744 PMID:29895397 PMID:29959261 PMID:30120248 PMID:30154079 PMID:30638816 PMID:30679323 PMID:30842500 PMID:31108397 PMID:31434890 PMID:31859009 PMID:31914217 PMID:31996268 PMID:32028661 PMID:32385536 PMID:32397312 PMID:32409511 PMID:32579787 PMID:32843152 PMID:33125541 PMID:33601107 PMID:33973882 PMID:34009082 PMID:34020145 PMID:34307757 PMID:34774801 PMID:36515702 More...
NCBI chr10:34,525,517...34,536,670
Ensembl chr10:34,525,519...34,536,673
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Zfp354c
zinc finger protein 354C
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
ClinVar
PMID:26925868 PMID:28492532
NCBI chr10:35,129,720...35,145,717
Ensembl chr10:35,132,959...35,145,661
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Zfp879
zinc finger protein 879
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
ClinVar
PMID:26925868 PMID:28492532
NCBI chr10:35,148,679...35,158,674
Ensembl chr10:35,148,679...35,158,674
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C20h22orf15
similar to human chromosome 22 open reading frame 15
ISO
ClinVar Annotator: match by term: FTDALS2
ClinVar
PMID:28492532
NCBI chr20:12,723,160...12,725,864
Ensembl chr20:12,723,160...12,726,059
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Chchd10
coiled-coil-helix-coiled-coil-helix domain containing 10
ISO
ClinVar Annotator: match by term: FTDALS2 | ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:9536098 PMID:17576681 PMID:22535186 PMID:24934289 PMID:25113787 PMID:25155093 PMID:25193783 PMID:25261972 PMID:25348631 PMID:25428574 PMID:25576308 PMID:25681414 PMID:25700176 PMID:25726362 PMID:25741868 PMID:25833818 PMID:26152333 PMID:26224640 PMID:27810918 PMID:28069311 PMID:28492532 PMID:28585542 PMID:29112723 PMID:29121267 PMID:29315381 PMID:29540477 PMID:29789341 PMID:30014597 PMID:31690696 PMID:33749723 More...
NCBI chr20:12,725,839...12,727,638
Ensembl chr20:12,725,842...12,732,763
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Sqstm1
sequestosome 1
ISO
ClinVar Annotator: match by term: FTDALS3 | ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:11473345 PMID:11992264 PMID:14584883 PMID:15125799 PMID:15176995 PMID:15493999 PMID:15647816 PMID:15765181 PMID:16691492 PMID:16813535 PMID:17181397 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:26412716 PMID:26467025 PMID:26627873 PMID:26713335 PMID:27156075 PMID:27275741 PMID:27594680 PMID:28003435 PMID:28430856 PMID:28492532 PMID:29457785 PMID:29525180 PMID:29599744 PMID:29895397 PMID:30154079 PMID:30842500 PMID:31108397 PMID:31859009 PMID:32409511 PMID:32843152 PMID:35047667 More...
NCBI chr10:34,525,517...34,536,670
Ensembl chr10:34,525,519...34,536,673
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Kif5a
kinesin family member 5A
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 4
ClinVar
PMID:25741868 PMID:28492532 PMID:32579787
NCBI chr 7:63,051,894...63,089,024
Ensembl chr 7:63,049,424...63,092,858
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Tbk1
TANK-binding kinase 1
susceptibility
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: FTDALS4 | ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 4
CTD ClinVar OMIM
PMID:9536098 PMID:16199547 PMID:17576681 PMID:21447600 PMID:22851595 PMID:23453972 PMID:24033266 PMID:25700176 PMID:25741868 PMID:25741909 PMID:25803835 PMID:25943890 PMID:26476236 PMID:26581300 PMID:26804609 PMID:27156075 PMID:27892983 PMID:28008748 PMID:28089114 PMID:28365590 PMID:28492532 PMID:28822984 PMID:29146049 PMID:29398122 PMID:30033073 PMID:30739198 PMID:31000212 PMID:31244341 PMID:31475037 PMID:31498468 PMID:31748271 PMID:31914217 PMID:31996268 PMID:32317127 PMID:32409511 PMID:32447396 PMID:32579787 PMID:32638105 PMID:32772249 PMID:32980182 PMID:33208543 PMID:33245169 PMID:33618928 PMID:34099552 PMID:34363755 PMID:35260199 More...
NCBI chr 7:57,077,830...57,110,868
Ensembl chr 7:57,077,830...57,110,892
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Aptx
aprataxin
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr 5:55,798,896...55,822,963
Ensembl chr 5:55,800,248...55,822,855
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Aqp3
aquaporin 3 (Gill blood group)
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr 5:56,239,200...56,244,718
Ensembl chr 5:56,239,201...56,244,720
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Aqp7
aquaporin 7
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr 5:56,171,649...56,186,642
Ensembl chr 5:56,172,519...56,186,642
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Arhgef39
Rho guanine nucleotide exchange factor 39
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr 5:57,752,509...57,756,079
Ensembl chr 5:57,752,509...57,756,109
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Arid3c
AT-rich interaction domain 3C
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr 5:56,889,649...56,896,959
Ensembl chr 5:56,890,042...56,895,888
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Atosb
atos homolog B
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr 5:57,260,839...57,274,524
Ensembl chr 5:57,260,841...57,268,892
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B4galt1
beta-1,4-galactosyltransferase 1
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr 5:55,935,614...55,982,461
Ensembl chr 5:55,935,615...55,982,461
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Bag1
BAG cochaperone 1
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr 5:56,068,494...56,081,075
Ensembl chr 5:56,068,494...56,081,075
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Car9
carbonic anhydrase 9
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr 5:57,763,234...57,769,838
Ensembl chr 5:57,763,206...57,769,838
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Ccdc107
coiled-coil domain containing 107
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr 5:57,749,502...57,752,920
Ensembl chr 5:57,748,999...57,752,918
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Ccin
calicin
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr 5:58,206,676...58,208,563
Ensembl chr 5:58,206,633...58,208,951
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Ccl19
C-C motif chemokine ligand 19
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr 5:56,963,364...56,965,308
Ensembl chr 5:56,963,364...56,965,308
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Ccl21
C-C motif chemokine ligand 21
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr 5:56,980,557...56,981,661
Ensembl chr 5:56,980,558...56,981,686
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Ccl27
C-C motif chemokine ligand 27
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr 5:56,941,402...56,948,511
Ensembl chr 5:56,941,402...56,948,506
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Cd72
Cd72 molecule
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr 5:57,697,361...57,704,980
Ensembl chr 5:57,697,367...57,704,725
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Chmp5
charged multivesicular body protein 5
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr 5:56,081,385...56,098,529
Ensembl chr 5:56,081,343...56,098,529
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Cimip2b
ciliary microtubule inner protein 2B
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr 5:57,675,537...57,680,133
Ensembl chr 5:57,675,462...57,678,611
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Clta
clathrin, light chain A
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr 5:58,244,253...58,263,480
Ensembl chr 5:58,245,442...58,263,472
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Cntfr
ciliary neurotrophic factor receptor
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr 5:56,823,448...56,861,049
Ensembl chr 5:56,823,965...56,841,392
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Creb3
cAMP responsive element binding protein 3
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr 5:57,817,865...57,823,233
Ensembl chr 5:57,817,832...57,824,390
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Dcaf12
DDB1 and CUL4 associated factor 12
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr 5:56,460,418...56,482,171
Ensembl chr 5:56,461,006...56,482,456
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Dctn3
dynactin subunit 3
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr 5:56,881,085...56,889,041
Ensembl chr 5:56,881,085...56,889,102
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Dnai1
dynein, axonemal, intermediate chain 1
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr 5:56,730,179...56,800,926
Ensembl chr 5:56,730,179...56,800,925
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Dnaja1
DnaJ heat shock protein family (Hsp40) member A1
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr 5:55,842,414...55,853,326
Ensembl chr 5:55,842,426...55,853,967
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Dnajb5
DnaJ heat shock protein family (Hsp40) member B5
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr 5:57,176,840...57,186,067
Ensembl chr 5:57,176,845...57,185,490
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Enho
energy homeostasis associated
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr 5:56,800,980...56,802,777
Ensembl chr 5:56,800,980...56,802,777
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Exosc3
exosome component 3
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr 5:59,573,849...59,579,065
Ensembl chr 5:59,573,886...59,579,060
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Fam219a
family with sequence similarity 219, member A
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr 5:56,679,272...56,729,959
Ensembl chr 5:56,680,613...56,729,924
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Fam221b
family with sequence similarity 221, member B
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr 5:57,910,346...57,919,562
Ensembl chr 5:57,910,352...57,919,367
G
Fancg
FA complementation group G
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr 5:57,230,287...57,240,067
Ensembl chr 5:57,231,685...57,240,029
G
Fbxo10
F-box protein 10
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr 5:59,297,016...59,343,429
Ensembl chr 5:59,297,045...59,343,348
G
Frmpd1
FERM and PDZ domain containing 1
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr 5:59,443,076...59,545,125
Ensembl chr 5:59,443,076...59,545,080
G
Galt
galactose-1-phosphate uridylyltransferase
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr 5:56,927,039...56,930,284
Ensembl chr 5:56,926,724...56,930,265
G
Gba2
glucosylceramidase beta 2
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr 5:57,822,389...57,834,522
Ensembl chr 5:57,822,389...57,834,072
G
Glipr2
GLI pathogenesis-related 2
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr 5:58,170,417...58,202,258
Ensembl chr 5:58,170,425...58,202,272
G
Gne
glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr 5:58,267,189...58,307,396
Ensembl chr 5:58,267,210...58,307,499
G
Grhpr
glyoxylate and hydroxypyruvate reductase
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr 5:59,234,179...59,243,614
Ensembl chr 5:59,234,192...59,243,603
G
Hint2
histidine triad nucleotide binding protein 2
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr 5:57,904,613...57,906,868
Ensembl chr 5:57,904,614...57,907,097
G
Hrct1
histidine rich carboxyl terminus 1
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr 5:57,982,344...57,983,186
Ensembl chr 5:57,982,470...57,982,790
G
Il11ra1
interleukin 11 receptor subunit alpha 1
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr 5:56,931,824...56,941,408
Ensembl chr 5:56,935,516...56,941,408
G
Kif24
kinesin family member 24
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr 5:56,561,019...56,628,040
Ensembl chr 5:56,561,154...56,628,025
G
Melk
maternal embryonic leucine zipper kinase
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr 5:58,540,393...58,600,562
Ensembl chr 5:58,540,449...58,600,937
G
Msmp
microseminoprotein, prostate associated
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr 5:57,838,935...57,839,985
Ensembl chr 5:57,838,935...57,839,985
G
Myorg
myogenesis regulating glycosidase
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr 5:56,654,257...56,664,467
Ensembl chr 5:56,648,643...56,664,440
G
Ndufb6
NADH:ubiquinone oxidoreductase subunit B6
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr 5:55,400,543...55,410,110
Ensembl chr 5:55,400,543...55,410,181
G
Nfx1
nuclear transcription factor, X-box binding 1
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr 5:56,104,945...56,162,912
Ensembl chr 5:56,105,234...56,162,912
G
Nol6
nucleolar protein 6
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr 5:56,259,919...56,270,540
Ensembl chr 5:56,260,830...56,270,336
G
Npr2
natriuretic peptide receptor 2
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr 5:57,883,171...57,901,590
Ensembl chr 5:57,883,171...57,901,580
G
Nudt2
nudix hydrolase 2
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr 5:56,628,265...56,643,104
Ensembl chr 5:56,628,265...56,643,104
G
Or13c7
olfactory receptor family 13 subfamily C member 7
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr 5:58,081,150...58,082,109
Ensembl chr 5:58,077,726...58,083,852
G
Or13j1
olfactory receptor family 13 subfamily J member 1
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr 5:57,961,391...57,962,329
Ensembl chr 5:57,960,219...57,965,853
G
Pax5
paired box 5
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr 5:58,763,334...58,945,719
Ensembl chr 5:58,765,036...58,944,326
G
Phf24
PHD finger protein 24
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr 5:57,143,428...57,171,054
Ensembl chr 5:57,142,632...57,168,497
G
Pigo
phosphatidylinositol glycan anchor biosynthesis, class O
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr 5:57,244,721...57,256,252
Ensembl chr 5:57,245,166...57,254,146
G
Polr1e
RNA polymerase I subunit E
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr 5:59,279,456...59,295,346
Ensembl chr 5:59,279,460...59,295,369
G
Prss3
serine protease 3
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr 4:70,203,088...70,206,562
Ensembl chr 4:70,203,088...70,206,562
G
Reck
reversion-inducing-cysteine-rich protein with kazal motifs
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr 5:58,102,961...58,169,516
Ensembl chr 5:58,102,981...58,169,502
G
Rgp1
RGP1 homolog, RAB6A GEF complex partner 1
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr 5:57,834,467...57,843,087
Ensembl chr 5:57,834,629...57,843,086
G
Rig1
RNA sensor RIG-1
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr 5:55,321,351...55,369,947
Ensembl chr 5:55,321,235...55,370,819
G
Rnf38
ring finger protein 38
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr 5:58,358,771...58,467,424
Ensembl chr 5:58,361,976...58,467,446
G
Rpp25l
ribonuclease P/MRP subunit p25 like
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr 5:56,878,420...56,879,956
Ensembl chr 5:56,876,316...56,880,013
G
Rusc2
RUN and SH3 domain containing 2
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr 5:57,628,397...57,675,524
Ensembl chr 5:57,629,904...57,675,524
G
Sigmar1
sigma non-opioid intracellular receptor 1
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr 5:56,904,155...56,907,012
Ensembl chr 5:56,904,159...56,907,017
G
Sit1
signaling threshold regulating transmembrane adaptor 1
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr 5:57,740,212...57,741,838
Ensembl chr 5:57,740,218...57,741,838
G
Smu1
SMU1, DNA replication regulator and spliceosomal factor
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr 5:55,856,691...55,875,262
Ensembl chr 5:55,856,246...55,875,300
G
Spag8
sperm associated antigen 8
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr 5:57,901,681...57,903,894
Ensembl chr 5:57,901,682...57,903,894
G
Spata31f1
SPATA31 subfamily F member 1
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr 5:57,065,743...57,071,880
Ensembl chr 5:57,065,747...57,071,738
G
Spata31g1
SPATA31 subfamily G member 1
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr 5:57,199,980...57,204,069
Ensembl chr 5:57,200,000...57,204,070
G
Spink4
serine peptidase inhibitor, Kazal type 4
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr 5:56,043,936...56,064,841
Ensembl chr 5:55,981,624...56,064,795
G
Spmip6
sperm microtubule inner protein 6
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr 5:56,666,160...56,678,865
Ensembl chr 5:56,666,058...56,678,923
G
Stoml2
stomatin like 2
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr 5:57,256,227...57,259,824
Ensembl chr 5:57,256,220...57,259,920
G
Tesk1
testis associated actin remodelling kinase 1
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr 5:57,691,922...57,697,698
Ensembl chr 5:57,691,969...57,697,698
G
Tln1
talin 1
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr 5:57,787,670...57,817,900
Ensembl chr 5:57,787,943...57,817,900
G
Tmem215
transmembrane protein 215
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr 5:55,612,568...55,615,828
Ensembl chr 5:55,612,568...55,615,828
G
Tmem8b
transmembrane protein 8B
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr 5:57,919,473...57,948,419
Ensembl chr 5:57,919,804...57,946,772
G
Tomm5
translocase of outer mitochondrial membrane 5
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr 5:59,362,360...59,365,191
Ensembl chr 5:59,362,240...59,365,269
G
Topors
TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr 5:55,388,033...55,399,937
Ensembl chr 5:55,387,632...55,399,937
G
Tpm2
tropomyosin 2
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr 5:57,770,919...57,780,278
Ensembl chr 5:57,770,864...57,779,992
G
Trmt10b
tRNA methyltransferase 10B
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr 5:59,548,845...59,572,529
Ensembl chr 5:59,548,869...59,572,526
G
Ubap1
ubiquitin-associated protein 1
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr 5:56,520,722...56,561,153
Ensembl chr 5:56,520,743...56,561,152
G
Ubap2
ubiquitin-associated protein 2
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr 5:56,348,243...56,437,403
Ensembl chr 5:56,348,246...56,437,049
G
Ube2r2
ubiquitin-conjugating enzyme E2R 2
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr 5:56,286,604...56,345,160
Ensembl chr 5:56,286,725...56,345,513
G
Unc13b
unc-13 homolog B
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr 5:57,288,999...57,504,110
Ensembl chr 5:57,289,227...57,502,926
G
Vcp
valosin-containing protein
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia | ClinVar Annotator: match by term: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 6 | ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:7182974 PMID:9536098 PMID:12446676 PMID:15034582 PMID:16247064 PMID:16321991 PMID:16790606 PMID:16984901 PMID:17329348 PMID:17576681 PMID:17622780 PMID:17763460 PMID:17889967 PMID:17935506 PMID:18341608 PMID:18845250 PMID:19208399 PMID:19225410 PMID:19237541 PMID:19364651 PMID:19506019 PMID:19704082 PMID:20008565 PMID:20104022 PMID:20512113 PMID:20604808 PMID:20957154 PMID:21145000 PMID:21249466 PMID:21320982 PMID:21387114 PMID:21816654 PMID:21822278 PMID:21880997 PMID:21920633 PMID:21984748 PMID:22078486 PMID:22137929 PMID:22270372 PMID:22572540 PMID:22686199 PMID:22898872 PMID:22900631 PMID:22909335 PMID:23000505 PMID:23029473 PMID:23056506 PMID:23152587 PMID:23169451 PMID:23333620 PMID:23498975 PMID:23868359 PMID:24123792 PMID:24196964 PMID:24829604 PMID:24838343 PMID:25125609 PMID:25326637 PMID:25388089 PMID:25457024 PMID:25492614 PMID:25617006 PMID:25618255 PMID:25741868 PMID:25775548 PMID:25878907 PMID:26105173 PMID:26467025 PMID:26511028 PMID:26549226 PMID:26555887 PMID:26627873 PMID:26809617 PMID:26853221 PMID:27165006 PMID:27209344 PMID:27226613 PMID:27538664 PMID:27708273 PMID:27768726 PMID:27790088 PMID:28130640 PMID:28360103 PMID:28492532 PMID:28542158 PMID:28692196 PMID:28709720 PMID:28738334 PMID:29033165 PMID:29127544 PMID:29754758 PMID:29770363 PMID:29899994 PMID:30005904 PMID:30103325 PMID:30103957 PMID:30270202 PMID:30279455 PMID:30293881 PMID:30488450 PMID:30955949 PMID:31687228 PMID:31848255 PMID:31862442 PMID:31914217 PMID:32028661 PMID:32036797 PMID:32317127 PMID:32481679 PMID:32528171 PMID:32579787 PMID:32671691 PMID:33144514 PMID:33415820 PMID:34573259 PMID:35741724 PMID:36980948 More...
NCBI chr 5:57,210,167...57,229,571
Ensembl chr 5:57,210,168...57,229,571
G
Zbtb5
zinc finger and BTB domain containing 5
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr 5:59,244,132...59,265,461
Ensembl chr 5:59,243,307...59,265,426
G
Zcchc7
zinc finger CCHC-type containing 7
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr 5:58,992,558...59,173,308
Ensembl chr 5:58,993,290...59,173,300
G
Chmp2b
charged multivesicular body protein 2B
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: CHMP2B-related condition | ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 7
OMIM CTD ClinVar
PMID:9536098 PMID:16041373 PMID:16431024 PMID:16807408 PMID:16941655 PMID:16954699 PMID:17576681 PMID:17956895 PMID:20301378 PMID:20352044 PMID:20592581 PMID:20625756 PMID:21222599 PMID:22521643 PMID:22527221 PMID:23155438 PMID:25558820 PMID:25741868 PMID:26467025 PMID:26777436 PMID:26836416 PMID:28166811 PMID:28430856 PMID:28492532 PMID:29411640 PMID:29431110 PMID:29486463 PMID:29525180 PMID:30054184 PMID:30766798 PMID:32638105 More...
NCBI chr11:3,337,478...3,364,015
Ensembl chr11:3,337,494...3,385,181
G
Pou1f1
POU class 1 homeobox 1
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 7
ClinVar
PMID:28492532
NCBI chr11:3,316,818...3,334,804
Ensembl chr11:3,317,058...3,334,801
G
Ccnf
cyclin F
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 5
OMIM ClinVar
PMID:25741868 PMID:27080313 PMID:28281833 PMID:31577344
NCBI chr10:13,253,073...13,279,140
Ensembl chr10:13,253,380...13,279,101
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 PMID:28492532 PMID:32185393 More...
NCBI chr19:18,310,632...18,373,696
Ensembl chr19:18,314,019...18,373,658
G
Asb16
ankyrin repeat and SOCS box-containing 16
ISO
ClinVar Annotator: match by term: GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
ClinVar
PMID:28492532
NCBI chr10:87,225,976...87,233,078
Ensembl chr10:87,225,912...87,233,078
G
Atxn7l3
ataxin 7-like 3
ISO
ClinVar Annotator: match by term: GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
ClinVar
PMID:28492532
NCBI chr10:87,242,843...87,250,186
Ensembl chr10:87,243,587...87,250,620
G
G6pc3
glucose 6 phosphatase catalytic subunit 3
ISO
ClinVar Annotator: match by term: GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
ClinVar
PMID:28492532
NCBI chr10:87,146,987...87,151,223
Ensembl chr10:87,146,901...87,151,221
G
Grn
granulin precursor
ISO ISS
ClinVar Annotator: match by term: GRN-related frontotemporal lobar degeneration with Tdp43 inclusions OMIM:607485 CTD Direct Evidence: marker/mechanism
ClinVar MouseDO CTD OMIM RGD
PMID:6497355 PMID:9152110 PMID:9259373 PMID:9536098 PMID:9633693 PMID:12459547 PMID:12476321 PMID:16199547 PMID:16401619 PMID:16495329 PMID:16862115 PMID:16862116 PMID:16950801 PMID:16983677 PMID:16983685 PMID:17030534 PMID:17071927 PMID:17202431 PMID:17210807 PMID:17228326 PMID:17345602 PMID:17356379 PMID:17371905 PMID:17436289 PMID:17439980 PMID:17522386 PMID:17576681 PMID:17620546 PMID:17698705 PMID:17826340 PMID:17917583 PMID:17923627 PMID:17949857 PMID:17950702 PMID:17984093 PMID:18183624 PMID:18184915 PMID:18192287 PMID:18223198 PMID:18234697 PMID:18245784 PMID:18314228 PMID:18322394 PMID:18359860 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:19020205 PMID:19030774 PMID:19133655 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:20937952 PMID:20947212 PMID:21403024 PMID:21454553 PMID:21482928 PMID:21569259 PMID:21695656 PMID:21753165 PMID:21800185 PMID:21891869 PMID:22127750 PMID:22312439 PMID:22366795 PMID:22459598 PMID:22491866 PMID:22608501 PMID:22647257 PMID:22781549 PMID:22818528 PMID:22819134 PMID:22906081 PMID:22995991 PMID:23117491 PMID:23338682 PMID:23383383 PMID:23463024 PMID:23596077 PMID:23609919 PMID:23624518 PMID:23684369 PMID:23724906 PMID:23742080 PMID:23759146 PMID:23770887 PMID:23813535 PMID:23990795 PMID:24022032 PMID:24081456 PMID:24387985 PMID:24494724 PMID:24503614 PMID:24703252 PMID:24814951 PMID:25104557 PMID:25333068 PMID:25525159 PMID:25546130 PMID:25558820 PMID:25604855 PMID:25715738 PMID:25741868 PMID:25943890 PMID:26075876 PMID:26159191 PMID:26460020 PMID:26467025 PMID:26652843 PMID:26674655 PMID:26791154 PMID:26811050 PMID:26925509 PMID:27082848 PMID:27311648 PMID:27341800 PMID:27567822 PMID:27632209 PMID:27790088 PMID:27884173 PMID:27997711 PMID:28000352 PMID:28430294 PMID:28473694 PMID:28492532 PMID:28543767 PMID:28664756 PMID:28749476 PMID:29036611 PMID:29339765 PMID:29486463 PMID:29525178 PMID:29525180 PMID:29530724 PMID:29614680 PMID:29724592 PMID:29874572 PMID:30054184 PMID:30090657 PMID:30279455 PMID:30528841 PMID:30530974 PMID:30545478 PMID:30924900 PMID:30954774 PMID:30992141 PMID:31031559 PMID:31122931 PMID:31182772 PMID:31262553 PMID:31361008 PMID:31600775 PMID:31810826 PMID:31855245 PMID:31914217 PMID:31996268 PMID:32028661 PMID:32317127 PMID:32474471 PMID:32483926 PMID:32507413 PMID:32843152 PMID:33016921 PMID:33203472 PMID:33351065 PMID:33601107 PMID:33980708 PMID:34162492 PMID:34305575 PMID:34435519 PMID:34561610 PMID:35085262 PMID:35217970 PMID:35861376 PMID:35896380 PMID:36641371 PMID:19649643 More...
RGD:5509604
NCBI chr10:87,387,672...87,393,777
Ensembl chr10:87,387,638...87,393,775
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Hdac5
histone deacetylase 5
ISO
ClinVar Annotator: match by term: GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
ClinVar
PMID:28492532
NCBI chr10:87,152,978...87,187,921
Ensembl chr10:87,152,978...87,188,235
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Hrob
homologous recombination factor with OB-fold
ISO
ClinVar Annotator: match by term: GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
ClinVar
PMID:28492532
NCBI chr10:87,206,017...87,222,483
Ensembl chr10:87,206,049...87,222,483
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Lsm12
LSM12 homolog
ISO
ClinVar Annotator: match by term: GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
ClinVar
PMID:28492532
NCBI chr10:87,118,334...87,140,395
Ensembl chr10:87,118,416...87,140,396
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Rundc3a
RUN domain containing 3A
ISO
ClinVar Annotator: match by term: GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
ClinVar
PMID:28492532
NCBI chr10:87,352,624...87,361,767
Ensembl chr10:87,352,646...87,361,765
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Slc25a39
solute carrier family 25, member 39
ISO
ClinVar Annotator: match by term: GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
ClinVar
PMID:28492532
NCBI chr10:87,362,494...87,367,358
Ensembl chr10:87,362,490...87,367,260
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Slc4a1
solute carrier family 4 member 1 (Diego blood group)
ISO
ClinVar Annotator: match by term: GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
ClinVar
PMID:28492532
NCBI chr10:87,306,865...87,323,132
Ensembl chr10:87,306,872...87,323,117
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Tmub2
transmembrane and ubiquitin-like domain containing 2
ISO
ClinVar Annotator: match by term: GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
ClinVar
PMID:28492532
NCBI chr10:87,238,543...87,242,968
Ensembl chr10:87,238,548...87,242,779
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Ubtf
upstream binding transcription factor
ISO
ClinVar Annotator: match by term: GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
ClinVar
PMID:28492532
NCBI chr10:87,258,217...87,274,291
Ensembl chr10:87,258,217...87,272,969
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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 PMID:34048612 More...
NCBI chr16:1,412,373...1,457,814
Ensembl chr16:1,410,756...1,457,797
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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 PMID:16984901 PMID:17329348 PMID:17763460 PMID:18341608 PMID:18845250 PMID:19225410 PMID:19237541 PMID:19364651 PMID:19506019 PMID:19704082 PMID:20008565 PMID:20104022 PMID:20512113 PMID:20604808 PMID:20957154 PMID:21145000 PMID:21320982 PMID:21387114 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:23169451 PMID:23333620 PMID:23498975 PMID:24196964 PMID:24829604 PMID:25125609 PMID:25326637 PMID:25388089 PMID:25492614 PMID:25617006 PMID:25618255 PMID:25741868 PMID:25775548 PMID:26105173 PMID:26467025 PMID:26549226 PMID:26555887 PMID:27226613 PMID:27538664 PMID:27708273 PMID:27768726 PMID:27790088 PMID:28130640 PMID:28360103 PMID:28492532 PMID:28542158 PMID:28692196 PMID:29770363 PMID:30005904 PMID:30279455 PMID:30293881 PMID:31687228 PMID:31848255 PMID:31862442 PMID:32317127 PMID:32528171 PMID:33144514 PMID:34573259 More...
NCBI chr 5:57,210,167...57,229,571
Ensembl chr 5:57,210,168...57,229,571
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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 PMID:25741868 PMID:27990297 PMID:28389692 PMID:28492532 PMID:29358076 PMID:35484142 More...
NCBI chr 4:80,534,659...80,545,297
Ensembl chr 4:80,534,651...80,545,249
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Hnrnpa1
heterogeneous nuclear ribonucleoprotein A1
ISO
ClinVar Annotator: match by term: Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3
OMIM ClinVar
PMID:20116073 PMID:23455423 PMID:25616961 PMID:25741868
NCBI chr 7:134,375,318...134,381,610
Ensembl chr 7:134,375,150...134,381,609
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Egf
epidermal growth factor
ISO
protein:increased expression:plasma
RGD
PMID:24119107
RGD:10059681
NCBI chr 2:218,219,408...218,302,359
Ensembl chr 2:218,219,415...218,302,064
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Hnrnpa1
heterogeneous nuclear ribonucleoprotein A1
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 7:134,375,318...134,381,610
Ensembl chr 7:134,375,150...134,381,609
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Hnrnpa2b1
heterogeneous nuclear ribonucleoprotein A2/B1
ISO
DNA:missense mutation:cds:p.D290V (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:23455423
RGD:10395280
NCBI chr 4:80,534,659...80,545,297
Ensembl chr 4:80,534,651...80,545,249
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Tnf
tumor necrosis factor
ISO
protein:increased expression:plasma
RGD
PMID:24119107
RGD:10059681
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Vcp
valosin-containing protein
ISO ISS
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Inclusion body myopathy with Paget disease of bone and frontotemporal dementia | ClinVar Annotator: match by term: Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia
CTD ClinVar MouseDO
PMID:7182974 PMID:9536098 PMID:15034582 PMID:16247064 PMID:16321991 PMID:16790606 PMID:16984901 PMID:17329348 PMID:17576681 PMID:17763460 PMID:18341608 PMID:18845250 PMID:19225410 PMID:19237541 PMID:19364651 PMID:19506019 PMID:19704082 PMID:20008565 PMID:20104022 PMID:20512113 PMID:20604808 PMID:20957154 PMID:21145000 PMID:21320982 PMID:21387114 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:23169451 PMID:23333620 PMID:23498975 PMID:24196964 PMID:24829604 PMID:25125609 PMID:25326637 PMID:25388089 PMID:25492614 PMID:25617006 PMID:25618255 PMID:25741868 PMID:25775548 PMID:25884947 PMID:26105173 PMID:26467025 PMID:26549226 PMID:26555887 PMID:27226613 PMID:27538664 PMID:27708273 PMID:27768726 PMID:27790088 PMID:28130640 PMID:28360103 PMID:28492532 PMID:28542158 PMID:28692196 PMID:29754758 PMID:29770363 PMID:30005904 PMID:30270202 PMID:30279455 PMID:30293881 PMID:31687228 PMID:31848255 PMID:31862442 PMID:32028661 PMID:32317127 PMID:32528171 PMID:33144514 PMID:34573259 PMID:36980948 More...
NCBI chr 5:57,210,167...57,229,571
Ensembl chr 5:57,210,168...57,229,571
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Atf2
activating transcription factor 2
ISO
RGD
PMID:16496165
RGD:10047401
NCBI chr 3:58,718,323...58,795,280
Ensembl chr 3:58,718,332...58,795,236
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Creb1
cAMP responsive element binding protein 1
ISO
protein:decreased expression:frontal cortex
RGD
PMID:16496165 PMID:17548164
RGD:10047401 , RGD:10047402
NCBI chr 9:65,903,511...65,972,562
Ensembl chr 9:65,903,547...65,970,816
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Fos
Fos proto-oncogene, AP-1 transcription factor subunit
ISO
protein:decreased expression:frontal cortex
RGD
PMID:17548164
RGD:10047402
NCBI chr 6:105,121,170...105,124,036
Ensembl chr 6:105,121,170...105,124,036
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Hnmt
histamine N-methyltransferase
ISO
RGD
PMID:11880199
RGD:5509779
NCBI chr 3:6,591,804...6,623,821
Ensembl chr 3:6,591,463...6,624,012
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Map2k6
mitogen-activated protein kinase kinase 6
ISO
RGD
PMID:12392790
RGD:7495833
NCBI chr10:95,373,304...95,490,406
Ensembl chr10:95,373,204...95,488,293
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Mapt
microtubule-associated protein tau
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Dementia with lobar atrophy and neuronal cytoplasmic inclusions | ClinVar Annotator: match by term: Pick Disease of the Brain | ClinVar Annotator: match by term: Pick disease
CTD OMIM ClinVar
PMID:2273997 PMID:8673924 PMID:9629852 PMID:9641683 PMID:9736786 PMID:9789048 PMID:10100642 PMID:10214944 PMID:10219785 PMID:10604746 PMID:10627302 PMID:10767321 PMID:10821687 PMID:10932182 PMID:11013246 PMID:11032905 PMID:11115852 PMID:11117542 PMID:11255441 PMID:11402146 PMID:11601501 PMID:11756436 PMID:11891833 PMID:12473404 PMID:15489396 PMID:15831501 PMID:17526496 PMID:18067537 PMID:19458322 PMID:20561037 PMID:22022446 PMID:22723997 PMID:23043292 PMID:25319522 PMID:25592136 PMID:25741868 PMID:26220942 PMID:26269332 PMID:26467025 PMID:26519432 PMID:27439681 PMID:27582388 PMID:27641626 PMID:27802239 PMID:28268100 PMID:28492532 PMID:30090657 PMID:30528841 PMID:32843152 More...
NCBI chr10:89,138,644...89,236,137
Ensembl chr10:89,138,627...89,236,129
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Psen1
presenilin 1
ISO
ClinVar Annotator: match by term: Dementia with lobar atrophy and neuronal cytoplasmic inclusions | ClinVar Annotator: match by term: Pick Disease of the Brain | ClinVar Annotator: match by term: Pick disease CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:7596406 PMID:7623585 PMID:8538334 PMID:8634712 PMID:8733303 PMID:8905716 PMID:8962160 PMID:8986743 PMID:9450754 PMID:9521423 PMID:9804121 PMID:10327206 PMID:11389157 PMID:11524469 PMID:12433263 PMID:12549925 PMID:14769392 PMID:15122701 PMID:15622541 PMID:18045903 PMID:19111578 PMID:20049724 PMID:20157243 PMID:20301414 PMID:21559374 PMID:22242180 PMID:22461631 PMID:22475797 PMID:22503161 PMID:22956200 PMID:23638752 PMID:24463146 PMID:24559647 PMID:25285942 PMID:25299611 PMID:25323700 PMID:25741868 PMID:26337232 PMID:26467025 PMID:27264813 PMID:27930341 PMID:28269784 PMID:28492532 PMID:30054184 PMID:31235249 PMID:31914229 PMID:32087291 PMID:32917274 PMID:35949106 More...
NCBI chr 6:103,323,052...103,375,088
Ensembl chr 6:103,323,120...103,371,650
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Snca
synuclein alpha
ISO
protein:increased expression:dentate gyrus
RGD
PMID:12410393
RGD:6480200
NCBI chr 4:89,696,420...89,797,240
Ensembl chr 4:89,696,420...89,796,262
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Sncb
synuclein, beta
ISO
protein:increased expression:dentate gyrus
RGD
PMID:12410393
RGD:6480200
NCBI chr17:9,846,802...9,855,013
Ensembl chr17:9,846,802...9,855,012
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Tardbp
TAR DNA binding protein
ISO
RGD
PMID:18091558
RGD:5687194
NCBI chr 5:159,050,518...159,062,218
Ensembl chr 5:159,051,799...159,062,055
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Grn
granulin precursor
ISO
ClinVar Annotator: match by term: Primary progressive aphasia
ClinVar
PMID:6497355 PMID:12794388 PMID:16862116 PMID:16950801 PMID:17202431 PMID:17210807 PMID:17439980 PMID:17522386 PMID:17698705 PMID:18183624 PMID:18245784 PMID:18392865 PMID:18551524 PMID:20087814 PMID:20142524 PMID:20522652 PMID:20947212 PMID:21454553 PMID:21482928 PMID:21891869 PMID:22127750 PMID:22608501 PMID:25741868 PMID:26467025 PMID:26791154 PMID:28492532 PMID:32507413 PMID:33203472 More...
NCBI chr10:87,387,672...87,393,777
Ensembl chr10:87,387,638...87,393,775
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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 PMID:2378641 PMID:2783132 PMID:7908444 PMID:8137139 PMID:9643750 PMID:9748018 PMID:9751723 PMID:9789072 PMID:10437852 PMID:10581230 PMID:10953203 PMID:11488277 PMID:11506406 PMID:11506411 PMID:11749972 PMID:11840201 PMID:12601712 PMID:12867116 PMID:12891686 PMID:14520676 PMID:14562104 PMID:14970845 PMID:15277640 PMID:15539564 PMID:15987701 PMID:16217673 PMID:16315279 PMID:16391566 PMID:16565881 PMID:16969862 PMID:18955686 PMID:19923577 PMID:25741868 PMID:28492532 More...
NCBI chr 3:119,186,073...119,201,513
Ensembl chr 3:119,177,485...119,203,937
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Tbk1
TANK-binding kinase 1
ISO
ClinVar Annotator: match by term: Primary progressive non fluent aphasia
ClinVar
NCBI chr 7:57,077,830...57,110,868
Ensembl chr 7:57,077,830...57,110,892
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