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: tauopathy
Accession: DOID:680
browse the term
Definition: Neurodegenerative disorders involving deposition of abnormal tau protein isoforms (TAU PROTEINS) in neurons and glial cells in the brain. Pathological aggregations of tau proteins are associated with mutation of the tau gene on chromosome 17 in patients with ALZHEIMER DISEASE; DEMENTIA; PARKINSONIAN DISORDERS; progressive supranuclear palsy (SUPRANUCLEAR PALSY, PROGRESSIVE); and corticobasal degeneration.
Synonyms: exact_synonym: tauopathies
primary_id: MESH:D024801 ; RDO:0004808
For additional species annotation, visit the
Alliance of Genome Resources .
G
Cdk5
cyclin-dependent kinase 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26945731
NCBI chr 4:7,282,945...7,287,427
Ensembl chr 4:7,282,948...7,288,383
G
Gsk3b
glycogen synthase kinase 3 beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26945731
NCBI chr11:65,060,884...65,208,842
Ensembl chr11:65,066,235...65,209,268
G
Hdac1
histone deacetylase 1
ISO
protein:increased expression:brain:
RGD
PMID:22918830
RGD:9590098
NCBI chr 5:147,716,664...147,743,723
Ensembl chr 5:147,716,664...147,743,723
G
Mapt
microtubule-associated protein tau
treatment
ISO IDA
CTD Direct Evidence: marker/mechanism
CTD
PMID:10604746 PMID:11889249 PMID:14595660 PMID:24556215 PMID:27569447 , PMID:22874558 , PMID:27998769 , PMID:28721361
RGD:8158094 , RGD:13800905 , RGD:13800888
NCBI chr10:92,289,002...92,386,517
Ensembl chr10:92,288,910...92,386,517
G
Pecam1
platelet and endothelial cell adhesion molecule 1
ISO
protein:increased expression:brain, blood vessel (mouse)
RGD
PMID:21839061
RGD:6771210
NCBI chr10:94,850,971...94,913,202
G
Ppp2r5d
protein phosphatase 2, regulatory subunit B', delta
ISO
RGD
PMID:21482799
RGD:13515115
NCBI chr 9:16,580,995...16,610,425
Ensembl chr 9:16,586,803...16,609,631
G
A2m
alpha-2-macroglobulin
no_association onset
ISO
ClinVar Annotator: match by term: Alzheimer disease, susceptibility to CTD Direct Evidence: marker/mechanism DNA:polymorphisms: :multiple DNA:deletion, polymorphisms, haplotypes: :multiple DNA:polymorphism: :p.I1000V (human) DNA:insertion/deletion, substitution DNA:deletion:splice junction:
ClinVar CTD
PMID:1717945 PMID:9697696 PMID:9811940 PMID:15023809 PMID:24033266 , PMID:10319853 , PMID:12966032 , PMID:12966032 , PMID:10936700 , PMID:12133586 , PMID:14675603 , PMID:9697696
RGD:1300322 , RGD:10046016 , RGD:10046016 , RGD:10046015 , RGD:10046014 , RGD:10046012 , RGD:1302534
NCBI chr 4:154,309,426...154,359,138
Ensembl chr 4:154,309,426...154,359,137
G
Abat
4-aminobutyrate aminotransferase
ISO
RGD
PMID:1627256
RGD:10046060
NCBI chr10:7,093,406...7,200,439
Ensembl chr10:7,093,405...7,200,499
G
Abca1
ATP binding cassette subfamily A member 1
ISO
RGD
PMID:15024730
RGD:1300323
NCBI chr 5:69,857,717...69,983,042
Ensembl chr 5:69,857,771...69,983,015
G
Abca7
ATP binding cassette subfamily A member 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21460840 PMID:25807283
NCBI chr 7:12,742,433...12,762,423
Ensembl chr 7:12,742,433...12,762,341
G
Abcb1a
ATP binding cassette subfamily B member 1A
ISO
RGD
PMID:25991605
RGD:13801010
NCBI chr 4:22,339,829...22,517,642
Ensembl chr 4:22,133,521...22,425,515
G
Abcc1
ATP binding cassette subfamily C member 1
ISO
RGD
PMID:25991605
RGD:13801010
NCBI chr10:549,537...672,235
Ensembl chr10:549,883...672,196
G
Abi3
ABI family, member 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28714976
NCBI chr10:83,644,086...83,655,182
Ensembl chr10:83,644,086...83,655,182
G
Abl1
ABL proto-oncogene 1, non-receptor tyrosine kinase
ISO
protein:increased expression:brain:
RGD
PMID:19700222
RGD:8693570
NCBI chr 3:10,041,820...10,145,076
Ensembl chr 3:10,041,826...10,144,388
G
Acadvl
acyl-CoA dehydrogenase, very long chain
ISO
protein:decreased expression:brain
RGD
PMID:25260493
RGD:10047114
NCBI chr10:56,619,321...56,624,468
Ensembl chr10:56,619,303...56,624,526
G
Ace
angiotensin I converting enzyme
IMP ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9916793 PMID:10643899 PMID:14872014 PMID:17192785 PMID:30820047 , PMID:19080340 , PMID:15118671
RGD:2325232 , RGD:1331525
NCBI chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
G
Ache
acetylcholinesterase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22944069 PMID:23047022 , PMID:16581404
RGD:5509844
NCBI chr12:22,472,358...22,477,052
Ensembl chr12:22,472,358...22,478,753
G
Adam10
ADAM metallopeptidase domain 10
IEP ISO
protein:decreased expression:cerebral cortex, hippocampus CTD Direct Evidence: marker/mechanism
CTD
PMID:30820047 , PMID:23296102 , PMID:24792732
RGD:13703032 , RGD:13703037
NCBI chr 8:77,107,355...77,237,483
Ensembl chr 8:77,107,536...77,237,483
G
Adam17
ADAM metallopeptidase domain 17
onset
IEP ISO
protein:decreased expression:cerebral cortex, hippocampus DNA:missense mutation: :p.R215I (rs142946965) (human)
RGD
PMID:24792732 , PMID:29988083
RGD:13703037 , RGD:13782143
NCBI chr 6:43,400,525...43,448,280
Ensembl chr 6:43,400,528...43,448,280
G
Adam2
ADAM metallopeptidase domain 2
ISO
protein:increased expression:brain
RGD
PMID:10686596
RGD:10047127
NCBI chr15:42,708,536...42,751,281
Ensembl chr15:42,708,387...42,751,330
G
Adam9
ADAM metallopeptidase domain 9
IEP
protein:decreased expression:hippocampus
RGD
PMID:24792732
RGD:13703037
NCBI chr16:71,810,377...71,887,926
Ensembl chr16:71,810,377...71,887,926
G
Adamts1
ADAM metallopeptidase with thrombospondin type 1 motif, 1
ISO
ClinVar Annotator: match by term: Alzheimer's disease CTD Direct Evidence: marker/mechanism
ClinVar CTD
PMID:16369530 PMID:16921174 PMID:24691562 PMID:30820047
NCBI chr11:25,342,119...25,350,938
Ensembl chr11:25,342,126...25,350,974
G
Adamts5
ADAM metallopeptidase with thrombospondin type 1 motif, 5
ISO
ClinVar Annotator: match by term: Alzheimer's disease
ClinVar
PMID:16369530 PMID:16921174 PMID:24691562
NCBI chr11:25,411,174...25,456,639
Ensembl chr11:25,410,975...25,456,836
G
Adipoq
adiponectin, C1Q and collagen domain containing
ISO
protein:increased expression:plasma protein:increased expression:cerebrospinal fluid, plasma
RGD
PMID:22213409 , PMID:20727007
RGD:5686377 , RGD:5686881
NCBI chr11:81,330,845...81,344,488
Ensembl chr11:81,330,293...81,344,488
G
Adnp
activity-dependent neuroprotector homeobox
ISO
RGD
PMID:18199809 , PMID:17720885
RGD:2312791 , RGD:2312792
NCBI chr 3:164,937,188...164,964,819
Ensembl chr 3:164,937,198...164,964,702
G
Adra1a
adrenoceptor alpha 1A
susceptibility
ISO
RGD
PMID:114750
RGD:5688374
NCBI chr15:43,296,997...43,398,314
Ensembl chr15:43,298,794...43,392,451
G
Adrb3
adrenoceptor beta 3
ISO
DNA:missense mutation:cds:p.W64R (human)
RGD
PMID:17440948
RGD:2311642
NCBI chr16:69,003,541...69,006,632
Ensembl chr16:69,003,868...69,006,632
G
Ager
advanced glycosylation end product-specific receptor
treatment
ISO IDA IEP
protein:increased expression:brain (human) mRNA:increased expression:hippocampus, cerebral cortex (mouse) protein:increased expression:hippocampus (rat)
RGD
PMID:8751438 , PMID:21593432 , PMID:23164356 , PMID:23396166 , PMID:23396166 , PMID:22745485
RGD:1300365 , RGD:7245965 , RGD:7244287 , RGD:7244266 , RGD:7244266 , RGD:6784502
NCBI chr20:4,363,152...4,366,079
Ensembl chr20:4,363,152...4,366,079
G
Agt
angiotensinogen
ISO
protein:increased expression:cerebrospinal fluid
RGD
PMID:21297254
RGD:5129180
NCBI chr19:57,321,594...57,333,460
Ensembl chr19:57,321,640...57,333,433
G
Agtr1a
angiotensin II receptor, type 1a
treatment
ISO
protein:decreased expression:substantia nigra:
RGD
PMID:21929736 , PMID:8666063
RGD:10047395 , RGD:10047397
NCBI chr17:35,907,102...35,958,136
Ensembl chr17:35,907,108...35,958,077
G
Aif1
allograft inflammatory factor 1
ISO
mRNA:increased expression:frontal cortex (human) protein:altered expression:hippocampus (mouse)
RGD
PMID:16340083 , PMID:19084047
RGD:2313045 , RGD:2313023
NCBI chr20:5,161,350...5,167,176
Ensembl chr20:5,161,333...5,166,448
G
Aifm1
apoptosis inducing factor, mitochondria associated 1
ISO
protein:increased expression:cortex,nucleus: protein:increased expression:basal forebrain,amygdala:
RGD
PMID:24915960 , PMID:22536549
RGD:10053592 , RGD:10053593
NCBI chr X:135,304,063...135,343,062
Ensembl chr X:135,304,066...135,343,087
G
Akap5
A-kinase anchoring protein 5
ISO
protein:increased expression:cell soma, dendritic arbor (human)
RGD
PMID:10460255
RGD:2313287
NCBI chr 6:99,356,509...99,361,909
Ensembl chr 6:99,356,509...99,361,909
G
Akr7a2
aldo-keto reductase family 7, member A2
ISO
protein:increased expression:superior, middle temporal gyrus;
RGD
PMID:11597610
RGD:14349051
NCBI chr 5:157,759,448...157,768,473
Ensembl chr 5:157,759,416...157,768,471
G
Akt1
AKT serine/threonine kinase 1
ISO
protein:increased tyrosine phosphorylation:cerebral cortex
RGD
PMID:18023354
RGD:5509085
NCBI chr 6:137,218,398...137,239,970
Ensembl chr 6:137,218,376...137,236,258
G
Aldh2
aldehyde dehydrogenase 2 family member
onset
ISO
RGD
PMID:15126281
RGD:1599042
NCBI chr12:40,466,418...40,498,813
Ensembl chr12:40,466,495...40,498,752
G
Alox15
arachidonate 15-lipoxygenase
ISO
protein:increased expression:brain
RGD
PMID:20570249 , PMID:15111312
RGD:5509595 , RGD:5509620
NCBI chr10:56,953,692...56,962,145
Ensembl chr10:56,953,691...56,962,161
G
Ambra1
autophagy and beclin 1 regulator 1
ISO
RGD
PMID:23910655
RGD:14390071
NCBI chr 3:80,634,470...80,830,068
Ensembl chr 3:80,634,470...80,830,068
G
Amfr
autocrine motility factor receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22313999
NCBI chr19:11,473,538...11,509,500
Ensembl chr19:11,473,541...11,508,102
G
Ang
angiogenin
severity
ISO
protein:decreased expression:serum
RGD
PMID:22449478
RGD:6892705
NCBI chr15:28,022,926...28,028,636
G
Anxa5
annexin A5
ISO
protein:increased expression:brain, plasma protein:increased expression: plasma
RGD
PMID:20648654 , PMID:20648654
RGD:7242030 , RGD:7242030
NCBI chr 2:123,162,477...123,194,730
Ensembl chr 2:123,162,461...123,193,130
G
Aoc3
amine oxidase, copper containing 3
severity
ISO
protein:increased expression:plasma
RGD
PMID:17393059
RGD:2313919
NCBI chr10:89,251,370...89,259,313
Ensembl chr10:89,251,370...89,259,313
G
Apbb1
amyloid beta precursor protein binding family B member 1
susceptibility no_association
ISO
DNA:mutations::multiple mRNA:altered expression:brain: DNA:deletion:intron: DNA:polymorphism:intron:
RGD
PMID:9799084 , PMID:10723070 , PMID:12727304 , PMID:11099823
RGD:2301212 , RGD:10054036 , RGD:10054031 , RGD:10054028
NCBI chr 1:170,387,625...170,411,263
Ensembl chr 1:170,387,609...170,404,056
G
Apbb2
amyloid beta precursor protein binding family B member 2
onset
ISO
DNA:SNPs: :rs13133980,rs17443013(human)
RGD
PMID:15714520
RGD:9684954
NCBI chr14:43,205,047...43,526,968
Ensembl chr14:43,512,901...43,523,080
G
Apc
APC regulator of WNT signaling pathway
ISO
protein:increased expression:astrocyte
RGD
PMID:11547943
RGD:6484525
NCBI chr18:27,011,710...27,106,323
Ensembl chr18:27,047,382...27,105,531
G
Aph1a
aph-1 homolog A, gamma secretase subunit
treatment
ISO
RGD
PMID:28588301 , PMID:29926633
RGD:13703122 , RGD:13703123
NCBI chr 2:198,006,247...198,009,837
Ensembl chr 2:198,006,316...198,009,830
G
Aplp2
amyloid beta precursor like protein 2
IDA
RGD
PMID:8086458
RGD:734582
NCBI chr 8:32,298,526...32,328,821
Ensembl chr 8:32,298,532...32,328,839
G
Apoa1
apolipoprotein A1
resistance
ISO
DNA: : :transgenic model
RGD
PMID:20847045 , PMID:19863188
RGD:5508212 , RGD:5508218
NCBI chr 8:50,525,091...50,526,875
Ensembl chr 8:50,525,091...50,526,875
G
Apoa4
apolipoprotein A4
no_association
ISO
DNA:missense mutation:cds:p.Q360H (human) DNA:snp, haplotype:cds:p.S147N (rs5104) (human)
RGD
PMID:21356380 , PMID:10559562 , PMID:9272683 , PMID:16013913
RGD:5685638 , RGD:5685682 , RGD:5685681 , RGD:5685661
NCBI chr 8:50,536,983...50,539,371
Ensembl chr 8:50,537,009...50,539,376
G
Apoc1
apolipoprotein C1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29107063 PMID:30319691 , PMID:11825674
RGD:1578472
NCBI chr 1:80,606,638...80,609,921
Ensembl chr 1:80,606,638...80,609,921
G
Apod
apolipoprotein D
ISO
protein:increased expression:cerebrospinal fluid, hippocampus
RGD
PMID:9751198
RGD:2311209
NCBI chr11:72,705,204...72,726,263
Ensembl chr11:72,705,129...72,726,301
G
Apoe
apolipoprotein E
susceptibility treatment no_association
ISO IEP
ClinVar Annotator: match by term: Late onset Alzheimer disease DNA:SNP: :APOEe4(human) CTD Direct Evidence: marker/mechanism DNA:polymorphism:promoter:-491A>T,-427T>C(human) protein:increased expression:hippocampus, synapse (rat) protein:increased expression:parietal cortex, synapse (human) DNA:missense mutations, haplotype:cds:p.C112R, (rs7412) (human)
ClinVar CTD
PMID:2987927 PMID:3922972 PMID:7263700 PMID:8346443 PMID:8618665 PMID:8644717 PMID:9343467 PMID:9932938 PMID:10213549 PMID:10799751 PMID:11835377 PMID:11940689 PMID:11940706 PMID:14741101 PMID:15048896 PMID:15184602 PMID:15326261 PMID:15557508 PMID:15668424 PMID:19605830 PMID:19734902 PMID:20819998 PMID:22381401 PMID:23060451 PMID:23296339 PMID:23571587 PMID:24033266 PMID:24162737 PMID:24473795 PMID:25741868 PMID:27023435 PMID:27260402 PMID:29107063 PMID:30319691 PMID:30320580 PMID:32376954 , PMID:15118671 , PMID:20574532 , PMID:20088507 , PMID:18057979 , PMID:22020632 , PMID:22020632 , PMID:10027549
RGD:1331525 , RGD:10427727 , RGD:12904712 , RGD:7771594 , RGD:6903910 , RGD:6903910 , RGD:6903233
NCBI chr 1:80,612,894...80,616,820
Ensembl chr 1:80,612,895...80,617,057
G
App
amyloid beta precursor protein
susceptibility treatment
ISO IDA IEP
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Early-Onset Familial Alzheimer Disease human transgene in rat model ClinVar Annotator: match by term: Alzheimer disease ClinVar Annotator: match by term: Alzheimer's disease associated with hypertension ClinVar Annotator: match by OMIM:104300 DNA:mutation:p.D678N (human) protein:increased expression:cerebral spinal fluid fluid,brain: protein:decreased expression:cerebrospinal fluid: ClinVar Annotator: match by term: Alzheimer disease, protection against
CTD ClinVar
PMID:1303239 PMID:1303275 PMID:1307241 PMID:1415269 PMID:1497677 PMID:1520398 PMID:1634237 PMID:1671712 PMID:1678057 PMID:1678058 PMID:1679288 PMID:1908231 PMID:1925564 PMID:7686976 PMID:7806491 PMID:7845465 PMID:8290965 PMID:8291572 PMID:8499923 PMID:8886002 PMID:9754958 PMID:9848098 PMID:10611368 PMID:10821838 PMID:11311152 PMID:11409420 PMID:11441013 PMID:11528419 PMID:11568920 PMID:11735772 PMID:11910111 PMID:11978821 PMID:12192006 PMID:12572668 PMID:12654973 PMID:12746438 PMID:12852432 PMID:15365148 PMID:15488330 PMID:15502844 PMID:15590663 PMID:15591071 PMID:15776278 PMID:15993441 PMID:16204253 PMID:16266835 PMID:16325427 PMID:16369530 PMID:16492752 PMID:16651627 PMID:16921174 PMID:16969627 PMID:17239395 PMID:17430250 PMID:18413473 PMID:18583042 PMID:19281847 PMID:19286555 PMID:19363265 PMID:19818510 PMID:20111991 PMID:20157255 PMID:20228223 PMID:20640797 PMID:21157020 PMID:21209907 PMID:21980910 PMID:22312439 PMID:22503161 PMID:22507317 PMID:22801501 PMID:23224319 PMID:23827522 PMID:24033266 PMID:24524897 PMID:24650794 PMID:24680827 PMID:24691562 PMID:24878480 PMID:25104557 PMID:25138979 PMID:25174650 PMID:25352456 PMID:25604855 PMID:25714973 PMID:25741868 PMID:25948718 PMID:26104569 PMID:26242991 PMID:26402770 PMID:26467025 PMID:26803359 PMID:27000221 PMID:27117003 PMID:27312774 PMID:27567873 PMID:27838006 PMID:27858710 PMID:28304299 PMID:28350801 PMID:28448946 PMID:28492532 PMID:29263818 PMID:29420472 PMID:29859640 PMID:30279455 PMID:30320580 , PMID:16369530 , PMID:17506994 , PMID:30066400 , PMID:29174383 , PMID:29568075 , PMID:29641600 , PMID:15201367 , PMID:11520987 , PMID:11526104 , PMID:1677459
RGD:1599199 , RGD:2290385 , RGD:13782183 , RGD:13782049 , RGD:13782047 , RGD:13782044 , RGD:10054280 , RGD:1302530 , RGD:10054258 , RGD:10054257
NCBI chr11:24,425,013...24,641,872
Ensembl chr11:24,425,005...24,641,858
G
Aqp4
aquaporin 4
ISO
RGD
PMID:21107133
RGD:5148012
NCBI chr18:6,766,009...6,782,757
Ensembl chr18:6,765,945...6,782,996
G
Arc
activity-regulated cytoskeleton-associated protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18503570
NCBI chr 7:115,907,097...115,911,059
Ensembl chr 7:115,907,097...115,910,541
G
Ass1
argininosuccinate synthase 1
ISO
protein:increased expression:brain, glial cell (human)
RGD
PMID:11556547
RGD:4139898
NCBI chr 3:10,327,411...10,375,847
Ensembl chr 3:10,327,414...10,375,826
G
Atf2
activating transcription factor 2
ISO
RGD
PMID:9138733 , PMID:15878807
RGD:10047399 , RGD:10047400
NCBI chr 3:60,721,137...60,795,951
Ensembl chr 3:60,721,135...60,795,951
G
Atm
ATM serine/threonine kinase
disease_progression
ISO
RGD
PMID:23861893
RGD:10047419
NCBI chr 8:58,015,938...58,119,973
Ensembl chr 8:58,015,940...58,120,045
G
Atp5f1a
ATP synthase F1 subunit alpha
treatment onset
ISO IEP
CTD Direct Evidence: marker/mechanism protein:increased modification:inferior parietal cortex (human)
CTD
PMID:19374891 , PMID:25561935 , PMID:19374891
RGD:13703056 , RGD:13703046
NCBI chr18:74,156,553...74,164,490
Ensembl chr18:74,156,553...74,164,495
G
Atp5f1d
ATP synthase F1 subunit delta
ISO
RGD
PMID:28474567
RGD:13792588
NCBI chr 7:12,426,807...12,432,120
Ensembl chr 7:12,426,809...12,432,130
G
Atp5mg
ATP synthase membrane subunit g
ISO
RGD
PMID:28474567
RGD:13792588
NCBI chr 8:49,220,441...49,227,273
Ensembl chr 8:49,220,443...49,227,273
G
Atp5pf
ATP synthase peripheral stalk subunit F6
ISO
ClinVar Annotator: match by term: Alzheimer's disease
ClinVar
PMID:16369530 PMID:16921174 PMID:24691562
NCBI chr11:24,286,806...24,294,419
Ensembl chr11:24,286,787...24,294,179
G
Atp5po
ATP synthase peripheral stalk subunit OSCP
treatment
ISO
RGD
PMID:30266287 , PMID:30266287
RGD:14696823 , RGD:14696823
NCBI chr11:32,081,606...32,087,918
Ensembl chr11:32,081,574...32,088,002
G
Atp6v0e1
ATPase H+ transporting V0 subunit e1
ISO
RGD
PMID:23211594
RGD:10401913
NCBI chr10:16,769,857...16,792,930
Ensembl chr10:16,769,666...16,792,909
G
Atp7a
ATPase copper transporting alpha
IEP
mRNA:decreased expression:pituitary gland, vascular plexus (rat)
RGD
PMID:20027333
RGD:8657017
NCBI chr X:77,076,085...77,193,644
Ensembl chr X:77,076,106...77,193,644
G
Atr
ATR serine/threonine kinase
ISO
RGD
PMID:23861893
RGD:10047419
NCBI chr 8:103,673,578...103,770,886
Ensembl chr 8:103,673,411...103,770,947
G
Bace1
beta-secretase 1
susceptibility treatment
ISO IEP
CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:12824768 PMID:16407166 , PMID:12824768 , PMID:28763060 , PMID:29038004
RGD:1358439 , RGD:1358439 , RGD:13782083 , RGD:13782077
NCBI chr 8:50,140,092...50,162,388
Ensembl chr 8:50,139,997...50,162,361
G
Bace2
beta-secretase 2
susceptibility
ISO
mRNA,protein:increased expression:gyrus: DNA:SNP,haplotype:exon:
RGD
PMID:22074738 , PMID:16023140
RGD:13782172 , RGD:13782180
NCBI chr11:37,798,397...37,880,624
Ensembl chr11:37,798,370...37,880,821
G
Bad
BCL2-associated agonist of cell death
treatment
ISO
protein:increased expression:temporal cortex, membrane
RGD
PMID:15339646 , PMID:9507158
RGD:10053639 , RGD:10053642
NCBI chr 1:222,198,516...222,207,459
Ensembl chr 1:222,198,534...222,207,453
G
Baiap2
BAR/IMD domain containing adaptor protein 2
ISO
protein:decreased expression:cerebral cortex, postsynaptic density (human)
RGD
PMID:23537733
RGD:11576299
NCBI chr10:109,107,326...109,187,458
Ensembl chr10:109,107,389...109,187,115
G
Bak1
BCL2-antagonist/killer 1
ISO
protein:increased expression:temporal cortex, membrane
RGD
PMID:9507158
RGD:10053642
NCBI chr20:5,609,620...5,618,899
Ensembl chr20:5,609,625...5,618,260
G
Barhl1
BarH-like homeobox 1
ISO
protein:decreased expression:brain
RGD
PMID:28956815
RGD:14390165
NCBI chr 3:7,491,234...7,498,555
Ensembl chr 3:7,491,234...7,498,555
G
Bax
BCL2 associated X, apoptosis regulator
treatment
IEP ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18077176 , PMID:17639989 , PMID:29587274 , PMID:29777699 , PMID:21585051 , PMID:16265626 , PMID:8990132
RGD:2293073 , RGD:13782188 , RGD:13782186 , RGD:10054049 , RGD:10054047 , RGD:10054039
NCBI chr 1:101,451,801...101,457,207
Ensembl chr 1:101,451,802...101,457,207
G
Bcan
brevican
ISO
protein:altered modification:brain
RGD
PMID:20180882
RGD:14392785
NCBI chr 2:187,359,674...187,373,133
Ensembl chr 2:187,359,677...187,372,657
G
Bche
butyrylcholinesterase
severity
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23022600 , PMID:22012848 , PMID:16973370
RGD:5687327 , RGD:5688056
NCBI chr 2:171,104,476...171,196,186
Ensembl chr 2:171,100,140...171,196,395
G
Bcl2
BCL2, apoptosis regulator
treatment
IEP ISO IDA
CTD Direct Evidence: marker/mechanism protein:increased expression:temporal cortex, membrane
CTD
PMID:18077176 , PMID:17639989 , PMID:29587274 , PMID:29777699 , PMID:26897372 , PMID:21585051 , PMID:16265626 , PMID:9507158
RGD:2293073 , RGD:13782188 , RGD:13782186 , RGD:11522767 , RGD:10054049 , RGD:10054047 , RGD:10053642
NCBI chr13:26,605,426...26,769,374
Ensembl chr13:26,605,426...26,769,374
G
Bcl2l1
Bcl2-like 1
ISO
protein:increased expression:temporal cortex, membrane
RGD
PMID:9507158
RGD:10053642
NCBI chr 3:148,259,594...148,314,191
Ensembl chr 3:148,259,596...148,313,810
G
Bcl2l2
Bcl2-like 2
treatment
ISO IEP
protein:increased expression:hippocampus, cortex
RGD
PMID:15147516 , PMID:20460763
RGD:14394419 , RGD:14394421
NCBI chr15:33,543,774...33,549,165
Ensembl chr15:33,544,312...33,549,164
G
Bdnf
brain-derived neurotrophic factor
treatment no_association onset
IMP ISO IEP
CTD Direct Evidence: marker/mechanism DNA:polymorphisms: :196G>A (p.V66M), 270C>T (human) DNA:polymorphisms, haplotypes: :196G>A (p.V66M), 270C>T, 11757G>C (human) DNA:polymorphism: :p.V66M (human) protein:decreased expression:parietal cortex DNA:SNP:CDS:rs1048218 (human)
CTD
PMID:17344400 , PMID:20646587 , PMID:24877042 , PMID:16565926 , PMID:23215636 , PMID:16627933 , PMID:12654514 , PMID:18780967 , PMID:15118671
RGD:4891131 , RGD:10059402 , RGD:10059346 , RGD:10059345 , RGD:10059343 , RGD:10058980 , RGD:5508228 , RGD:1331525
NCBI chr 3:100,768,637...100,819,216
Ensembl chr 3:100,768,637...100,819,210
G
Becn1
beclin 1
ISO
protein:decreased expression:gray matter
RGD
PMID:18497889 , PMID:20863706
RGD:6483101 , RGD:6483102
NCBI chr10:89,209,944...89,225,297
Ensembl chr10:89,209,940...89,225,297
G
Bin1
bridging integrator 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21460841
NCBI chr18:25,163,575...25,222,139
Ensembl chr18:25,163,561...25,222,135
G
Bmp4
bone morphogenetic protein 4
ISO
RGD
PMID:19463786
RGD:10414082
NCBI chr15:20,776,060...20,791,013
Ensembl chr15:20,776,054...20,822,740
G
Bptf
bromodomain PHD finger transcription factor
ISO
protein:increased expression:microglia:
RGD
PMID:9792236
RGD:9586059
NCBI chr10:95,248,573...95,350,162
Ensembl chr10:95,250,294...95,349,789
G
Brip1
BRCA1 interacting protein C-terminal helicase 1
ISO
associated with Down Syndrome;protein:increased ubiquitination:frontal cortex (human)
RGD
PMID:25391381
RGD:11252150
NCBI chr10:73,507,009...73,632,742
Ensembl chr10:73,507,100...73,629,581
G
Btg3
BTG anti-proliferation factor 3
ISO
ClinVar Annotator: match by term: Alzheimer's disease
ClinVar
PMID:16369530 PMID:16921174 PMID:24691562
NCBI chr11:16,873,642...16,889,100
Ensembl chr11:16,873,646...16,889,201
G
C1qb
complement C1q B chain
ISO
mRNA:increased expression:microglial cell
RGD
PMID:1362796
RGD:1599518
NCBI chr 5:155,246,444...155,251,995
Ensembl chr 5:155,246,447...155,252,003
G
C2
complement C2
ISO
DNA:SNP, haplotype: :p.E318D (rs9332739) (human)
RGD
PMID:22300950
RGD:7401250
NCBI chr20:4,542,340...4,561,152
Ensembl chr20:4,542,340...4,561,152
G
C3
complement C3
ISO
DNA:SNP: :rs22300199 (human)
RGD
PMID:22300950
RGD:7401250
NCBI chr 9:9,721,137...9,747,084
Ensembl chr 9:9,721,105...9,747,167
G
C5ar1
complement C5a receptor 1
ISO
protein:decreased expression:brain
RGD
PMID:12759460
RGD:5130177
NCBI chr 1:78,186,777...78,195,132
Ensembl chr 1:78,186,776...78,195,328
G
Cacna1c
calcium voltage-gated channel subunit alpha1 C
ISO
protein:decreased expression:brain
RGD
PMID:23403102
RGD:13782264
NCBI chr 4:150,635,808...151,270,790
Ensembl chr 4:150,641,066...150,829,913
G
Calm1
calmodulin 1
ISO
CTD Direct Evidence: marker/mechanism protein:decreased expression:cerebellar cortex:
CTD
PMID:11470324 , PMID:11470324
RGD:13792493
NCBI chr 6:124,217,241...124,225,292
Ensembl chr 6:124,217,241...124,225,292
G
Calml5
calmodulin-like 5
ISO
protein:altered expression:neuron,glia
RGD
PMID:11470324
RGD:13792493
NCBI chr17:70,044,956...70,045,886
G
Camk2a
calcium/calmodulin-dependent protein kinase II alpha
ISO
RGD
PMID:15621017
RGD:13681926
NCBI chr18:56,193,978...56,295,869
Ensembl chr18:56,193,978...56,295,869
G
Capn1
calpain 1
onset
ISO
protein:increased activity:brain:
RGD
PMID:8622780 , PMID:11231011
RGD:13792495 , RGD:13792663
NCBI chr 1:221,346,081...221,370,965
Ensembl chr 1:221,346,066...221,370,322
G
Capn2
calpain 2
ISO
protein:increased expression:cytosol
RGD
PMID:9654354
RGD:13792661
NCBI chr13:100,878,649...100,928,811
Ensembl chr13:100,878,650...100,928,811
G
Casp1
caspase 1
ISO
RGD
PMID:12633148
RGD:13782269
NCBI chr 8:2,605,743...2,614,637
Ensembl chr 8:2,604,962...2,614,631
G
Casp12
caspase 12
treatment
IEP
RGD
PMID:29126976
RGD:13782165
NCBI chr 8:2,658,892...2,686,160
Ensembl chr 8:2,659,865...2,686,160
G
Casp2
caspase 2
ISO
RGD
PMID:12633148
RGD:13782269
NCBI chr 4:71,652,358...71,670,228
Ensembl chr 4:71,652,354...71,670,239
G
Casp3
caspase 3
treatment
ISO IEP
CTD Direct Evidence: marker/mechanism
CTD
PMID:18077176 , PMID:10319819 , PMID:29642617 , PMID:12633148 , PMID:29587274 , PMID:29777699
RGD:734692 , RGD:13782291 , RGD:13782269 , RGD:13782188 , RGD:13782186
NCBI chr16:48,845,011...48,863,249
Ensembl chr16:48,845,012...48,863,204
G
Casp6
caspase 6
ISO
RGD
PMID:12633148
RGD:13782269
NCBI chr 2:235,341,326...235,353,715
Ensembl chr 2:235,341,365...235,353,967 Ensembl chr 2:235,341,365...235,353,967
G
Casp7
caspase 7
ISO
DNA:SNPs, haplotype
RGD
PMID:26621834 , PMID:12633148
RGD:11344490 , RGD:13782269
NCBI chr 1:277,190,557...277,242,779
Ensembl chr 1:277,190,964...277,242,774
G
Casp8
caspase 8
treatment
ISO IEP
RGD
PMID:16772874 , PMID:29642617 , PMID:12633148
RGD:13782268 , RGD:13782291 , RGD:13782269
NCBI chr 9:65,614,142...65,662,624
Ensembl chr 9:65,614,142...65,662,106
G
Casp9
caspase 9
treatment
IEP ISO
RGD
PMID:29777699 , PMID:12633148
RGD:13782186 , RGD:13782269
NCBI chr 5:160,356,211...160,373,774
Ensembl chr 5:160,355,833...160,373,778
G
Cass4
Cas scaffold protein family member 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30320580
NCBI chr 3:170,398,496...170,438,381
Ensembl chr 3:170,399,302...170,438,993
G
Cast
calpastatin
ISO
protein:decreased expression:brain
RGD
PMID:20595388 , PMID:19020018
RGD:5509799 , RGD:5509809
NCBI chr 2:1,452,111...1,561,669
Ensembl chr 2:1,452,116...1,561,464
G
Cav1
caveolin 1
ISS
OMIM:104300 | OMIM:502500 | OMIM:604154 | OMIM:608907
MouseDO
NCBI chr 4:44,597,123...44,630,206
Ensembl chr 4:44,597,123...44,630,200
G
Ccl5
C-C motif chemokine ligand 5
ISO
mRNA:increased expression:cerebrum, blood vessels (human)
RGD
PMID:18440671
RGD:4890025
NCBI chr10:70,739,764...70,744,303
Ensembl chr10:70,739,800...70,744,315
G
Ccng1
cyclin G1
ISO
protein:increased expression:brain, neuron
RGD
PMID:12214116
RGD:2316025
NCBI chr10:25,903,925...25,910,298
Ensembl chr10:25,903,911...25,910,325
G
Ccr1
C-C motif chemokine receptor 1
severity
ISO
RGD
PMID:14595653
RGD:5688166
NCBI chr 8:132,996,646...133,002,201
Ensembl chr 8:132,996,649...133,002,201
G
Ccr5
C-C motif chemokine receptor 5
ISO IMP
protein:increased expression:brain, microglia (human)
RGD
PMID:9665462 , PMID:15979806
RGD:4890447 , RGD:4890446
NCBI chr 8:133,192,398...133,215,599
Ensembl chr 8:133,197,032...133,215,614
G
Cd2ap
CD2-associated protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21460840 PMID:21460841 PMID:30320580
NCBI chr 9:20,794,680...20,858,438
Ensembl chr 9:20,765,296...20,858,504
G
Cd33
CD33 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21460840 PMID:21460841
NCBI chr 1:98,388,811...98,403,539
Ensembl chr 1:98,398,660...98,402,968
G
Cd36
CD36 molecule
ISO
RGD
PMID:16563568
RGD:6893531
NCBI chr 4:14,150,309...14,191,498
Ensembl chr 4:14,001,761...14,249,749
G
Cd40
CD40 molecule
ISO
RGD
PMID:21414686
RGD:5490302
NCBI chr 3:161,519,789...161,534,943
Ensembl chr 3:161,519,743...161,534,704
G
Cd40lg
CD40 ligand
ISO
protein:increased expression:frontal cortex, astrocyte
RGD
PMID:11755016 , PMID:11755016
RGD:8547803 , RGD:8547803
NCBI chr X:159,703,703...159,714,886
Ensembl chr X:159,703,578...159,716,562
G
Cdc42
cell division cycle 42
ISO
RGD
PMID:10817927
RGD:5688277
NCBI chr 5:155,690,267...155,728,385
Ensembl chr 5:155,691,390...155,728,300
G
Cdk5
cyclin-dependent kinase 5
treatment
IEP ISO
DNA:SNP:intron:g.149800G>C (human)
RGD
PMID:28269780 , PMID:28085018 , PMID:15917097
RGD:13508590 , RGD:13792587 , RGD:13782365
NCBI chr 4:7,282,945...7,287,427
Ensembl chr 4:7,282,948...7,288,383
G
Cdk5r1
cyclin-dependent kinase 5 regulatory subunit 1
ISO
DNA:SNP:3' UTR:rs735555 (human)
RGD
PMID:28578378 , PMID:19154537 , PMID:24725413
RGD:13782362 , RGD:13782364 , RGD:13782363
NCBI chr10:67,862,054...67,863,255
Ensembl chr10:67,862,054...67,863,255
G
Cdk7
cyclin-dependent kinase 7
ISO
protein:increased expression:neuron:
RGD
PMID:11124424
RGD:10059352
NCBI chr 2:30,710,642...30,735,522
Ensembl chr 2:30,710,643...30,735,514
G
Cebpa
CCAAT/enhancer binding protein alpha
ISO
protein:decreased expression:forebrain, hindbrain (mouse) mRNA:increased expression:hippocampus (human)
RGD
PMID:21492414 , PMID:14769913
RGD:10401190 , RGD:10401224
NCBI chr 1:91,363,492...91,366,164
Ensembl chr 1:91,363,492...91,366,164
G
Cebpb
CCAAT/enhancer binding protein beta
treatment
ISO
mRNA:increased expression:hippocampus CA1 (human)
RGD
PMID:12391607 , PMID:23911420
RGD:10401229 , RGD:10401268
NCBI chr 3:164,424,502...164,425,933
Ensembl chr 3:164,424,515...164,425,910
G
Cftr
CF transmembrane conductance regulator
ISO
protein:decreased expression:hypothalamus
RGD
PMID:14757935
RGD:11566025
NCBI chr 4:42,693,263...42,860,679
Ensembl chr 4:42,692,836...42,860,676
G
Chat
choline O-acetyltransferase
IEP ISO
DNA:polymorphism:CDS:4G>A (human)
RGD
PMID:16834974 , PMID:12401548
RGD:1600851 , RGD:1358495
NCBI chr16:8,576,858...8,686,131
Ensembl chr16:8,577,840...8,686,131
G
Chodl
chondrolectin
ISO
ClinVar Annotator: match by term: Alzheimer's disease
ClinVar
PMID:16369530 PMID:16921174 PMID:24691562
NCBI chr11:17,537,980...17,560,305
Ensembl chr11:17,538,063...17,560,296
G
Chrna4
cholinergic receptor nicotinic alpha 4 subunit
ISO
RGD
PMID:15465084
RGD:1358509
NCBI chr 3:176,533,182...176,547,965
Ensembl chr 3:176,527,516...176,548,208
G
Chrna7
cholinergic receptor nicotinic alpha 7 subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18071042 , PMID:15465084
RGD:1358509
NCBI chr 1:123,897,341...124,039,263
Ensembl chr 1:123,899,657...124,039,196
G
Chrnb2
cholinergic receptor nicotinic beta 2 subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17192785
NCBI chr 2:189,088,570...189,096,785
Ensembl chr 2:189,088,570...189,096,785
G
Cib1
calcium and integrin binding 1
IEP
protein:decreased expression:brain (human)
RGD
PMID:15885068
RGD:10401854
NCBI chr 1:142,014,962...142,020,461
Ensembl chr 1:142,014,958...142,020,525
G
Clock
clock circadian regulator
susceptibility
ISO
DNA:snp:intron:c.982+247G>C (rs1554483) (human) DNA:snp:3' utr:c.3111T>C (human) DNA:snp:intron:c.560-1279C>G (rs4580704) (human)
RGD
PMID:23781009 , PMID:23912676 , PMID:23357097
RGD:10401861 , RGD:10401872 , RGD:10401862
NCBI chr14:34,418,226...34,502,218
Ensembl chr14:34,446,616...34,502,218
G
Clu
clusterin
ISO
ClinVar Annotator: match by term: Alzheimer's disease CTD Direct Evidence: marker/mechanism
ClinVar CTD
PMID:19734902 PMID:19734903 PMID:21460841 PMID:28492532 PMID:29476165 , PMID:9560017
RGD:8903235
NCBI chr15:42,626,612...42,665,858
Ensembl chr15:42,640,146...42,665,857
G
Cnp
2',3'-cyclic nucleotide 3' phosphodiesterase
ISO
RGD
PMID:21918687
RGD:6483333
NCBI chr10:88,490,798...88,497,357
Ensembl chr10:88,490,798...88,497,356
G
Cox7c
cytochrome c oxidase subunit 7C
ISO
RGD
PMID:28474567
RGD:13792588
NCBI chr 2:14,699,878...14,701,903
Ensembl chr 2:14,699,882...14,701,903
G
Crebbp
CREB binding protein
treatment
ISO
protein:increased phosphorylation:hippocampus:
RGD
PMID:21149712 , PMID:17760871
RGD:10059608 , RGD:10059609
NCBI chr10:11,590,994...11,721,039
Ensembl chr10:11,595,044...11,721,039
G
Crh
corticotropin releasing hormone
ISO
protein:decreased expression:cerebral cortex (human) CTD Direct Evidence: therapeutic
CTD
PMID:7477348 , PMID:7477348
RGD:5508831
NCBI chr 2:104,459,999...104,461,863
Ensembl chr 2:104,459,999...104,461,863
G
Crp
C-reactive protein
ISO
RGD
PMID:22202667
RGD:6904208
NCBI chr13:91,080,448...91,081,358
Ensembl chr13:91,054,974...91,093,713
G
Csf1r
colony stimulating factor 1 receptor
ISO
ClinVar Annotator: match by term: Alzheimer's disease
ClinVar
PMID:30279455
NCBI chr18:56,414,493...56,458,300
Ensembl chr18:56,414,488...56,458,300
G
Csnk1a1
casein kinase 1, alpha 1
ISO
protein:increased expression:CA1 field of hippocampus:
RGD
PMID:10514399
RGD:10395229
NCBI chr18:56,887,722...56,910,610
Ensembl chr18:56,887,354...56,918,345
G
Csnk1d
casein kinase 1, delta
severity
ISO
protein:increased expression:CA1 field of hippocampus: mRNA,protein:increased expression:brain:
RGD
PMID:10514399 , PMID:10814741
RGD:10395229 , RGD:10395230
NCBI chr10:110,147,786...110,182,413
Ensembl chr10:110,148,600...110,182,408
G
Csnk1e
casein kinase 1, epsilon
ISO
protein:increased expression:CA1 field of hippocampus:
RGD
PMID:10514399
RGD:10395229
NCBI chr 7:120,651,976...120,675,559
Ensembl chr 7:120,651,881...120,672,359
G
Cst3
cystatin C
susceptibility
ISO
protein:decreased expression:serum (human) protein:increased expression:plasma CTD Direct Evidence: marker/mechanism|therapeutic
CTD
PMID:17192785 PMID:18026100 , PMID:18824671 , PMID:15907478
RGD:2314333 , RGD:1358533
NCBI chr 3:143,219,671...143,223,544
Ensembl chr 3:143,219,686...143,223,615
G
Ctnnb1
catenin beta 1
treatment
ISO IEP
protein:increased expression:neuron,cytoplasm: protein:decreased expression:hippocampus protein:decreased expression:nucleus:
RGD
PMID:15781969 , PMID:12610652 , PMID:11226152
RGD:10395258 , RGD:10395276 , RGD:1302533
NCBI chr 8:129,601,511...129,628,378
Ensembl chr 8:129,617,812...129,627,372
G
Ctsd
cathepsin D
ISO
RGD
PMID:11304834
RGD:1358532
NCBI chr 1:215,541,570...215,553,446
Ensembl chr 1:215,541,542...215,553,451
G
Ctss
cathepsin S
ISO
RGD
PMID:7717452
RGD:5686914
NCBI chr 2:197,655,780...197,679,768
Ensembl chr 2:197,655,786...197,679,458
G
Cxadr
CXADR, Ig-like cell adhesion molecule
ISO
ClinVar Annotator: match by term: Alzheimer's disease
ClinVar
PMID:16369530 PMID:16921174 PMID:24691562
NCBI chr11:16,826,269...16,873,564
Ensembl chr11:16,826,399...16,873,562
G
Cyp19a1
cytochrome P450, family 19, subfamily a, polypeptide 1
ISO
mRNA:altered expression:cerebellum, hippocampus (human) DNA:polymorphism
RGD
PMID:18180323 , PMID:16882736
RGD:4889108 , RGD:1600861
NCBI chr 8:58,744,849...58,772,408
Ensembl chr 8:58,744,849...58,772,408
G
Cyp2d4
cytochrome P450, family 2, subfamily d, polypeptide 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:7574463
NCBI chr 7:123,599,264...123,608,436
Ensembl chr 7:123,599,266...123,608,436
G
Cyp46a1
cytochrome P450, family 46, subfamily a, polypeptide 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19286353 , PMID:12232784
RGD:1358575
NCBI chr 6:132,242,328...132,273,788
Ensembl chr 6:132,242,328...132,273,787
G
Cyyr1
cysteine and tyrosine rich 1
ISO
ClinVar Annotator: match by term: Alzheimer's disease
ClinVar
PMID:16369530 PMID:16921174 PMID:24691562
NCBI chr11:24,967,936...25,078,740
Ensembl chr11:24,967,937...25,078,740
G
Dbn1
drebrin 1
disease_progression
ISO
protein:decreased expression:hippocampal formation: mRNA:decreased expression:parietal cortex, temporal cortex, hippocampus: protein:decreased expression:hippocampus,neuronal spine:
RGD
PMID:8838578 , PMID:18338803 , PMID:17912741
RGD:10395286 , RGD:10398821 , RGD:10398820
NCBI chr17:9,679,511...9,693,878
Ensembl chr17:9,679,628...9,693,820
G
Dhcr24
24-dehydrocholesterol reductase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23042211
NCBI chr 5:126,164,708...126,188,926
Ensembl chr 5:126,164,674...126,191,206
G
Dlg4
discs large MAGUK scaffold protein 4
ISO
RGD
PMID:24156266
RGD:13792688
NCBI chr10:56,625,845...56,655,543
Ensembl chr10:56,627,411...56,653,599
G
Dlst
dihydrolipoamide S-succinyltransferase
susceptibility
ISO
DNA:polymorphisms: :
RGD
PMID:10227647
RGD:1358587
NCBI chr 6:108,936,534...108,961,322
Ensembl chr 6:108,936,664...108,959,803
G
Dnm1
dynamin 1
ISO IEP
protein:decreased expression:hippocampus,entorhinal cortex: mRNA,protein:decreased expression:hippocampus, temporal cortex denntate gyrus, hippocampus, entorhinal cortex
RGD
PMID:20847448 , PMID:20847448 , PMID:20847448
RGD:13506238 , RGD:13506238 , RGD:13506238
NCBI chr 3:11,338,081...11,382,043
Ensembl chr 3:11,338,083...11,382,043
G
Dnm1l
dynamin 1-like
ISO
protein:decreased expression:hippocampus (human)
RGD
PMID:19605646
RGD:7800727
NCBI chr11:88,830,968...88,882,271
Ensembl chr11:88,830,957...88,880,198
G
Dpysl2
dihydropyrimidinase-like 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19374891
NCBI chr15:43,475,640...43,581,725
Ensembl chr15:43,477,629...43,542,939
G
Drd1
dopamine receptor D1
ISO
protein:decreased expression:frontal cortex, neuron
RGD
PMID:17182012
RGD:5686412
NCBI chr17:11,099,736...11,104,352
Ensembl chr17:11,101,306...11,103,541
G
Drd2
dopamine receptor D2
ISO
protein:decreased expression:blood, lymphocyte
RGD
PMID:11087905
RGD:5686416
NCBI chr 8:53,678,777...53,743,643
Ensembl chr 8:53,678,777...53,743,642
G
Drd3
dopamine receptor D3
ISO
protein:decreased expression:frontal cortex, neuron
RGD
PMID:17182012
RGD:5686412
NCBI chr11:61,819,102...61,883,223
Ensembl chr11:61,822,077...61,874,327
G
Drd4
dopamine receptor D4
ISO
protein:decreased expression:frontal cortex, neuron
RGD
PMID:17182012
RGD:5686412
NCBI chr 1:214,278,296...214,282,818
Ensembl chr 1:214,278,296...214,281,483
G
Drd5
dopamine receptor D5
ISO
protein:increased expression:frontal cortex, neuron
RGD
PMID:17182012
RGD:5686412
NCBI chr14:77,220,579...77,222,006
Ensembl chr14:77,220,579...77,222,006
G
Dync1h1
dynein cytoplasmic 1 heavy chain 1
ISO
protein:increased expression:brain
RGD
PMID:9402150
RGD:13207349
NCBI chr 6:134,958,854...135,085,769
Ensembl chr 6:134,958,854...135,085,769
G
E2f1
E2F transcription factor 1
ISO
protein:increased expression:cerebral cortex,cytoplasm:
RGD
PMID:11939591
RGD:10401093
NCBI chr 3:150,062,895...150,073,721
Ensembl chr 3:150,047,826...150,073,721
G
Ece1
endothelin converting enzyme 1
ISO
RGD
PMID:15340356
RGD:1580902
NCBI chr 5:156,215,469...156,318,652
Ensembl chr 5:156,215,417...156,318,671
G
Eef1a2
eukaryotic translation elongation factor 1 alpha 2
ISO
protein:increased expression:CA1field of hippocampus:
RGD
PMID:8750861
RGD:10401216
NCBI chr 3:176,657,104...176,666,282
Ensembl chr 3:176,657,107...176,666,282
G
Eef2
eukaryotic translation elongation factor 2
ISO
protein:hyperphosphorylation:brain:
RGD
PMID:1331687
RGD:10401652
NCBI chr 7:11,401,501...11,406,771
Ensembl chr 7:11,401,501...11,406,771
G
Eef2k
eukaryotic elongation factor-2 kinase
ISO
RGD
PMID:16098202
RGD:10401651
NCBI chr 1:190,780,211...190,839,926
Ensembl chr 1:190,780,236...190,842,324
G
Egf
epidermal growth factor
ISO
protein:decreased expression:platelet
RGD
PMID:21875409
RGD:10059680
NCBI chr 2:68,820,616...68,895,537
G
Egfr
epidermal growth factor receptor
treatment
ISO
RGD
PMID:23019586
RGD:10059684
NCBI chr14:99,919,485...100,104,136
Ensembl chr14:99,919,485...100,098,796
G
Egr1
early growth response 1
treatment
ISO
protein:increased expression:temporal cortex, hippocampus (human)
RGD
PMID:21489990 , PMID:23642031 , PMID:21969301
RGD:5131647 , RGD:10395279 , RGD:10395277
NCBI chr18:27,657,903...27,660,101
Ensembl chr18:27,657,628...27,661,429
G
Eif2ak2
eukaryotic translation initiation factor 2-alpha kinase 2
ISO
protein:increased threonine phosphorylation:hippocampus
RGD
PMID:24315369 , PMID:15567511
RGD:10395344 , RGD:10395348
NCBI chr 6:1,428,845...1,466,193
Ensembl chr 6:1,428,834...1,466,201
G
Eif2s1
eukaryotic translation initiation factor 2 subunit alpha
severity
ISO
CTD Direct Evidence: marker/mechanism protein:increased phosphorylation:hippocampus
CTD
PMID:17406652 , PMID:16691116 , PMID:24315369 , PMID:16954686
RGD:10395316 , RGD:10395344 , RGD:10395343
NCBI chr 6:102,048,372...102,073,041
Ensembl chr 6:102,048,372...102,073,041
G
Elk1
ETS transcription factor ELK1
ISO
RGD
PMID:20126313
RGD:7488914
NCBI chr X:1,287,875...1,304,822
Ensembl chr X:1,297,099...1,304,822
G
Eno1
enolase 1
ISO
CTD Direct Evidence: marker/mechanism protein:increased S-glutathionylation, decreased activity:inferior parietal cortex
CTD
PMID:19374891 , PMID:17387692
RGD:13792613
NCBI chr 5:167,288,223...167,299,610
Ensembl chr 5:167,288,223...167,299,609
G
Ep300
E1A binding protein p300
ISO
mRNA:increased expression:temporal cortex (human)
RGD
PMID:23585551
RGD:7327146
NCBI chr 7:122,818,194...122,889,055
Ensembl chr 7:122,818,975...122,861,296
G
Epha1
Eph receptor A1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21460840 PMID:21460841
NCBI chr 4:71,749,100...71,763,681
Ensembl chr 4:71,749,242...71,763,679
G
Epha4
Eph receptor A4
ISO
protein:decreased expression:hippocampus
RGD
PMID:19542617 , PMID:19542617
RGD:6218956 , RGD:6218956
NCBI chr 9:83,111,222...83,253,486
Ensembl chr 9:83,111,222...83,253,458
G
Ephx1
epoxide hydrolase 1
ISO
protein:increased expression:hippocampus
RGD
PMID:16630050
RGD:5688388
NCBI chr13:99,271,390...99,300,580
Ensembl chr13:99,271,366...99,300,579
G
Epo
erythropoietin
treatment
ISO
RGD
PMID:22004348 , PMID:23813967
RGD:10395389 , RGD:10400882
NCBI chr12:22,274,828...22,278,268
Ensembl chr12:22,274,828...22,278,266
G
Epor
erythropoietin receptor
ISO
protein:increased expression:brain, astrocyte
RGD
PMID:17483696
RGD:10395387
NCBI chr 8:22,969,737...22,974,468
Ensembl chr 8:22,969,745...22,974,321
G
Ercc2
ERCC excision repair 2, TFIIH core complex helicase subunit
ISO
protein:increased expression:brain
RGD
PMID:9714461
RGD:5688738
NCBI chr 1:80,293,574...80,307,334
Ensembl chr 1:80,293,566...80,307,344
G
Ercc3
ERCC excision repair 3, TFIIH core complex helicase subunit
ISO
protein:increased expression:brain
RGD
PMID:9714461
RGD:5688738
NCBI chr18:25,037,668...25,068,380
Ensembl chr18:25,037,625...25,068,389
G
Esr1
estrogen receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17192785 , PMID:10558867
RGD:1358612
NCBI chr 1:41,192,029...41,594,799
Ensembl chr 1:41,192,824...41,594,796
G
Esr2
estrogen receptor 2
susceptibility
ISO
DNA:SNPs:3' utr: (rs4986938), (rs1255953) (human) DNA:snps:introns:IVS3-1880C>T, IVS4+1231C>T (rs1271573, rs1256043) (human) protein:decreased expression:choroid plexus mRNA:increased expression:cerebral cortex
RGD
PMID:17132983 , PMID:15944651 , PMID:15082146 , PMID:15916731
RGD:5508768 , RGD:8693346 , RGD:5508784 , RGD:5508772
NCBI chr 6:99,163,953...99,214,711
Ensembl chr 6:99,164,357...99,214,251
G
F2
coagulation factor II
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8333868
NCBI chr 3:80,529,468...80,542,993
Ensembl chr 3:80,529,428...80,543,031
G
Fabp3
fatty acid binding protein 3
ISO
protein:decreased expression:cerebral cortex (human)
RGD
PMID:15068254
RGD:1578460
NCBI chr 5:148,528,854...148,535,597
Ensembl chr 5:148,528,725...148,535,565
G
Fadd
Fas associated via death domain
ISO
RGD
PMID:16085017
RGD:13782385
NCBI chr 1:217,746,176...217,748,581
Ensembl chr 1:217,742,929...217,748,628
G
Fas
Fas cell surface death receptor
ISO
DNA:snp:promoter:g.-670G>A (human) protein:increased expression:brain, plaque (human)
RGD
PMID:11129341 , PMID:12742739
RGD:1358615 , RGD:8663481
NCBI chr 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790
G
Fgf1
fibroblast growth factor 1
ISO
RGD
PMID:20079650
RGD:5509878
NCBI chr18:32,273,830...32,359,831
Ensembl chr18:32,273,770...32,359,824
G
Fgfr1
Fibroblast growth factor receptor 1
ISO
RGD
PMID:9748519
RGD:10402073
NCBI chr16:71,265,390...71,319,046
Ensembl chr16:71,266,248...71,319,449
G
Fis1
fission, mitochondrial 1
ISO
protein:increased expression:hippocampus (human)
RGD
PMID:19605646
RGD:7800727
NCBI chr12:22,750,485...22,765,324
Ensembl chr12:22,750,485...22,765,308
G
Foxo3
forkhead box O3
ISO
protein:increased expression:lymphoblast,nucleus: mRNA:increased expression:brain: protein:altered expression:cortical neuron,nucleus:
RGD
PMID:23153928 , PMID:23585551 , PMID:23661003
RGD:10402185 , RGD:7327146 , RGD:10402187
NCBI chr20:46,428,078...46,519,156
Ensembl chr20:46,428,124...46,519,144
G
Fxyd6
FXYD domain-containing ion transport regulator 6
ISO
RGD
PMID:19760337
RGD:13801191
NCBI chr 8:49,676,520...49,703,419
Ensembl chr 8:49,676,540...49,703,419
G
Fyn
FYN proto-oncogene, Src family tyrosine kinase
ISO
protein:decreased expression:cerebral cortex, soluble fraction (human)
RGD
PMID:14999081 , PMID:15708437
RGD:1358600 , RGD:1358602
NCBI chr20:44,436,354...44,630,316
Ensembl chr20:44,436,403...44,630,317
G
Gabpa
GA binding protein transcription factor subunit alpha
ISO
ClinVar Annotator: match by term: Alzheimer's disease
ClinVar
PMID:16369530 PMID:16921174 PMID:24691562
NCBI chr11:24,293,845...24,322,822
Ensembl chr11:24,263,281...24,322,815
G
Gapdh
glyceraldehyde-3-phosphate dehydrogenase
onset susceptibility
ISO IDA
DNA:snps:5' utr, intron: (rs3741916, rs1060621) (human) protein:decreased activity:cerebral cortex, cerebellum protein:decreased activity:cerebral cortex, hippocampus protein:increased S-glutathionylation, decreased activity:inferior parietal cortex DNA:SNPs, haplotypes: :rs740850, rs1060620 (human) DNA:SNP:5' utr:rs3741916 (human)
RGD
PMID:15507493 , PMID:17324518 , PMID:17324518 , PMID:17387692 , PMID:18340469 , PMID:20864222 , PMID:28087189
RGD:1358618 , RGD:13792614 , RGD:13792614 , RGD:13792613 , RGD:13792612 , RGD:13792611 , RGD:13792604
NCBI chr 4:157,676,336...157,680,322
Ensembl chr 4:157,676,595...157,679,962
G
Gapdhs
glyceraldehyde-3-phosphate dehydrogenase, spermatogenic
onset
ISO
DNA:snps:promoter, intron: (rs4806173, rs12984928) (human) CTD Direct Evidence: marker/mechanism
CTD
PMID:17192785 , PMID:15507493
RGD:1358618
NCBI chr 1:89,180,063...89,195,347
Ensembl chr 1:89,180,063...89,194,602
G
Gcg
glucagon
ISO
RGD
PMID:23035082
RGD:10402366
NCBI chr 3:48,442,635...48,451,650
Ensembl chr 3:48,442,635...48,451,650
G
Gdnf
glial cell derived neurotrophic factor
ISO
mRNA, protein:alternate form, decreased expression:brain
RGD
PMID:22081608
RGD:5688777
NCBI chr 2:56,884,181...56,912,964
Ensembl chr 2:56,887,987...56,910,238
G
Ghrh
growth hormone releasing hormone
treatment
ISO
RGD
PMID:23211425
RGD:10401233
NCBI chr 3:153,449,124...153,468,794
Ensembl chr 3:153,449,125...153,468,794
G
Glud1
glutamate dehydrogenase 1
ISO
protein:increased expression:brain protein:increased expression, decreased oxidation:brain
RGD
PMID:16341942 , PMID:16298240
RGD:6484555 , RGD:6484556
NCBI chr16:10,661,486...10,695,557
Ensembl chr16:10,662,021...10,695,557
G
Glul
glutamate-ammonia ligase
ISO
protein:increased oxidation:brain (human) protein:increased expression:cerebrospinal fluid:significant increase in active protein vs normal patients and controls with other neurological disorders (human)
RGD
PMID:12160938 , PMID:1361232
RGD:2301427 , RGD:2301429
NCBI chr13:71,331,052...71,340,207
Ensembl chr13:71,331,052...71,340,229
G
Gnas
GNAS complex locus
ISO
RGD
PMID:8012802
RGD:10401266
NCBI chr 3:172,374,957...172,434,988
Ensembl chr 3:172,374,957...172,428,483 Ensembl chr 3:172,374,957...172,428,483
G
Grin1
glutamate ionotropic receptor NMDA type subunit 1
ISO
RGD
PMID:24156266
RGD:13792688
NCBI chr 3:2,507,745...2,534,664
Ensembl chr 3:2,506,896...2,534,663
G
Grin2a
glutamate ionotropic receptor NMDA type subunit 2A
ISO
RGD
PMID:24156266
RGD:13792688
NCBI chr10:5,707,806...6,123,568
Ensembl chr10:5,930,298...6,119,990
G
Grin2b
glutamate ionotropic receptor NMDA type subunit 2B
no_association
ISO
DNA:SNPs:promoter, exon, 3' utr:-200T>G (rs1019385), 2664C>T (rs1806201), 5072G>T (rs890) (human) DNA:SNPs:promoter:-200T>G (rs1019385), -1447T>C, -1497G>A (rs12368476) (human) DNA:SNP:promoter:-421C>A (rs3764028) (human) DNA:SNP: :2664C>T (rs1806201) (human) DNA:SNP, haplotype: :rs1806201 (human)
RGD
PMID:24156266 , PMID:18303265 , PMID:18983893 , PMID:18983893 , PMID:24292895 , PMID:24292895
RGD:13792688 , RGD:13792714 , RGD:13792713 , RGD:13792713 , RGD:13792709 , RGD:13792709
NCBI chr 4:169,541,620...170,000,216
Ensembl chr 4:169,560,387...169,999,873
G
Grk5
G protein-coupled receptor kinase 5
ISO
DNA: deletion: exons 7,8: heterozygote
RGD
PMID:18522748
RGD:5688375
NCBI chr 1:282,265,371...282,467,842
Ensembl chr 1:282,265,370...282,462,605
G
Grn
granulin precursor
severity onset
ISO
DNA:SNP:3'UTR:rs5848(human) ClinVar Annotator: match by term: Alzheimer's disease DNA:SNPs: :rs5848, rs850713, rs4792939 (human) DNA:mutations: : mRNA, protein:increased expression:microglia, neuron: DNA:deletion:exon:c.154delA(human)
ClinVar
PMID:30279455 , PMID:20197700 , PMID:19016491 , PMID:18565828 , PMID:19557827 , PMID:20142525
RGD:5509600 , RGD:10401636 , RGD:5509616 , RGD:5509606 , RGD:5509601
NCBI chr10:90,377,103...90,383,207
Ensembl chr10:90,376,933...90,383,205
G
Gsk3a
glycogen synthase kinase 3 alpha
treatment
ISO
RGD
PMID:18410522 , PMID:22623685
RGD:10401797 , RGD:10401801
NCBI chr 1:82,097,244...82,108,238
Ensembl chr 1:82,097,247...82,108,203
G
Gsk3b
glycogen synthase kinase 3 beta
treatment
ISO IDA
DNA:SNP:promoter:rs334558 (human) CTD Direct Evidence: marker/mechanism protein:decreased phosphorylation:hippocampus: DNA:altered methylation:CpG island:
CTD
PMID:17409235 PMID:22944069 , PMID:11226152 , PMID:29257340 , PMID:27893738 , PMID:19154537 , PMID:22623685 , PMID:22982863 , PMID:22048123 , PMID:24101602
RGD:1302533 , RGD:13792777 , RGD:13792736 , RGD:13782364 , RGD:10401801 , RGD:10045670 , RGD:10045669 , RGD:10045668
NCBI chr11:65,060,884...65,208,842
Ensembl chr11:65,066,235...65,209,268
G
Gsr
glutathione-disulfide reductase
treatment
ISO IEP
protein:decreased expression:blood mRNA:increased expression:hippocampus
RGD
PMID:17721818 , PMID:21376020 , PMID:19374888 , PMID:10096042
RGD:10401827 , RGD:10401857 , RGD:10401849 , RGD:10401847
NCBI chr16:62,197,617...62,239,987
Ensembl chr16:62,197,617...62,241,361
G
Gss
glutathione synthetase
ISO
RGD
PMID:15693022
RGD:5508441
NCBI chr 3:151,076,254...151,106,557
Ensembl chr 3:151,076,254...151,106,557
G
Gstm3
glutathione S-transferase mu 3
ISO
RGD
PMID:15621212
RGD:5688745
NCBI chr 2:210,685,204...210,688,273
Ensembl chr 2:210,685,197...210,688,272
G
Gstm5
glutathione S-transferase, mu 5
ISO
DNA:SNP:cds: rs7483 (human)
RGD
PMID:18423940
RGD:5688729
NCBI chr 2:210,685,338...210,688,133
Ensembl chr 2:210,685,197...210,688,272
G
Gsto1
glutathione S-transferase omega 1
onset susceptibility no_association
ISO
DNA:polymorphism:exon:p. A140D (rs4925) (human)
RGD
PMID:14570706 , PMID:20818931 , PMID:15917099
RGD:1358651 , RGD:5490521 , RGD:5490514
NCBI chr 1:267,607,437...267,617,387
Ensembl chr 1:267,607,418...267,617,387
G
Gsto2
glutathione S-transferase omega 2
onset no_association
ISO
DDNA:polymorphism: : -183 A>G (rs2297235)(human) DNA:polymorphism:promoter: -183 A>G (rs2297235)(human)
RGD
PMID:14570706 , PMID:15917099
RGD:1358651 , RGD:5490514
NCBI chr 1:267,617,517...267,640,455
Ensembl chr 1:271,229,036...271,243,517 Ensembl chr 1:271,229,036...271,243,517
G
Gstp1
glutathione S-transferase pi 1
susceptibility onset
ISO
mRNA:decreased expression:cerebral cortex DNA:polymorphisms DNA:polymorphism:exon:
RGD
PMID:15805147 , PMID:23211594 , PMID:24584466 , PMID:17911365
RGD:5490123 , RGD:10401913 , RGD:10401912 , RGD:5490271
NCBI chr 1:219,291,679...219,294,147
Ensembl chr 1:219,291,679...219,294,147
G
Gstt1
glutathione S-transferase theta 1
susceptibility onset
ISO
DNA:deletion: :
RGD
PMID:10215103 , PMID:17911365
RGD:5490213 , RGD:5490271
NCBI chr20:13,799,102...13,816,527
Ensembl chr20:13,799,102...13,816,526
G
Gucy1b1
guanylate cyclase 1 soluble subunit beta 1
ISO
RGD
PMID:15571982
RGD:10401946
NCBI chr 2:180,976,939...181,026,001
Ensembl chr 2:180,976,939...181,026,024
G
Hadha
hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha
ISO
protein:decreased expression:brain
RGD
PMID:25260493
RGD:10047114
NCBI chr 6:27,589,840...27,628,921
Ensembl chr 6:27,589,657...27,629,175
G
Hadhb
hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta
ISO
RGD
PMID:11430884
RGD:1600786
NCBI chr 6:27,555,408...27,589,539
Ensembl chr 6:27,555,412...27,582,995
G
Hba-a1
hemoglobin alpha, adult chain 1
IEP
RGD
PMID:21428213
RGD:10450508
NCBI chr10:15,602,794...15,603,649
Ensembl chr10:15,602,794...15,603,649
G
Hdac2
histone deacetylase 2
ISO
protein:increased expression:hippocampus:
RGD
PMID:22388814
RGD:9590324
NCBI chr20:43,084,870...43,108,198
Ensembl chr20:43,084,870...43,108,198
G
Hfe
homeostatic iron regulator
ISO
with Tf C2 variant;DNA:missense mutation:cds:p.C282Y (human) ClinVar Annotator: match by term: Alzheimer's disease ClinVar Annotator: match by term: Alzheimer disease, susceptibility to CTD Direct Evidence: marker/mechanism
ClinVar CTD
PMID:678784 PMID:8696333 PMID:8896549 PMID:8896550 PMID:8931958 PMID:8943161 PMID:9024376 PMID:9106528 PMID:9138148 PMID:9162021 PMID:9211748 PMID:9321765 PMID:9326341 PMID:9341868 PMID:9356458 PMID:9439654 PMID:9462220 PMID:9482831 PMID:9585606 PMID:9851896 PMID:9851897 PMID:10194428 PMID:10381492 PMID:10401000 PMID:10431233 PMID:10660483 PMID:11336458 PMID:11358905 PMID:11399207 PMID:11423500 PMID:11479183 PMID:11532995 PMID:11812557 PMID:11874997 PMID:11904676 PMID:12241803 PMID:12377814 PMID:12429850 PMID:12436244 PMID:12885340 PMID:12915468 PMID:14618419 PMID:14673107 PMID:14729817 PMID:15060098 PMID:15070663 PMID:15280838 PMID:15347835 PMID:15858186 PMID:16132052 PMID:16879202 PMID:17047092 PMID:17600748 PMID:17828789 PMID:18199861 PMID:18499578 PMID:18504828 PMID:18566337 PMID:19084217 PMID:19159930 PMID:19444013 PMID:19554541 PMID:20107990 PMID:20301613 PMID:21243428 PMID:21452290 PMID:22531912 PMID:24033266 PMID:24729993 PMID:25741868 PMID:25741869 PMID:26153218 PMID:26365338 PMID:27124787 PMID:27173269 PMID:28443246 PMID:28492532 PMID:28617828 PMID:30291871 PMID:31220083 , PMID:15060098
RGD:1358657
NCBI chr17:43,661,276...43,669,327
Ensembl chr17:43,661,222...43,669,985
G
Hif1a
hypoxia inducible factor 1 subunit alpha
ISO
mRNA, protein:increased expression:cerebral cortex, microvessel (human) protein:increased expression:brain, microvessel (mouse)
RGD
PMID:16627934 , PMID:21904637
RGD:9068875 , RGD:9068888
NCBI chr 6:96,810,868...96,856,303
Ensembl chr 6:96,810,907...96,856,052
G
Hmgb1
high mobility group box 1
ISO
RGD
PMID:23905994
RGD:10402058
NCBI chr12:7,082,529...7,090,246
Ensembl chr16:37,500,017...37,502,237
G
Hmgcr
3-hydroxy-3-methylglutaryl-CoA reductase
ISO
RGD
PMID:17724290
RGD:5508460
NCBI chr 2:27,480,224...27,500,654
Ensembl chr 2:27,480,226...27,500,654
G
Hmox1
heme oxygenase 1
ISO
protein:increased expression:hippocampus, temporal cortex (human) CTD Direct Evidence: marker/mechanism
CTD
PMID:11144356 , PMID:7778849
RGD:1358658
NCBI chr19:14,508,634...14,515,455
Ensembl chr19:14,508,616...14,515,456
G
Hnrnpa1
heterogeneous nuclear ribonucleoprotein A1
ISO
protein:decreased expression:entorhinal cortex (human)
RGD
PMID:22628224
RGD:9999191
NCBI chr 7:144,865,302...144,871,592
Ensembl chr 7:144,865,608...144,871,585
G
Hnrnpa2b1
heterogeneous nuclear ribonucleoprotein A2/B1
ISO
protein:decreased expression:entorhinal cortex (human)
RGD
PMID:22628224
RGD:9999191
NCBI chr 4:81,237,496...81,241,281
Ensembl chr 4:81,237,496...81,241,282
G
Hras
HRas proto-oncogene, GTPase
ISO
protein:increased expression:brain, neuron (human)
RGD
PMID:10661494
RGD:10412306
NCBI chr 1:214,178,404...214,181,841
Ensembl chr 1:214,178,407...214,181,686
G
Hsd17b10
hydroxysteroid (17-beta) dehydrogenase 10
treatment
ISO
protein:increased expression:brain (human) protein:increased expression:hippocampus, neuron, mitochondria
RGD
PMID:9338779 , PMID:11869808 , PMID:21307267
RGD:1358426 , RGD:632866 , RGD:13792781
NCBI chr X:21,696,796...21,699,241
Ensembl chr X:21,696,772...21,699,241
G
Hsd17b3
hydroxysteroid (17-beta) dehydrogenase 3
ISO
mRNA:altered expression:cerebellum, hippocampus (human)
RGD
PMID:18180323
RGD:4889108
NCBI chr17:1,579,319...1,610,745
Ensembl chr17:1,579,319...1,610,745
G
Hsd3b1
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1
ISO
mRNA:altered expression:cerebellum, hippocampus (human)
RGD
PMID:18180323
RGD:4889108
G
Hsd3b2
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2
ISO
mRNA:altered expression:cerebellum, hippocampus (human)
RGD
PMID:18180323
RGD:4889108
NCBI chr 2:200,712,895...200,722,429
Ensembl chr 2:202,341,422...202,350,929
G
Hsf1
heat shock transcription factor 1
ISO IEP
protein:altered localization:promoter (mouse) protein:decreased expression:cerebellum (rat)
RGD
PMID:24849358 , PMID:23665061
RGD:10402385 , RGD:10402771
NCBI chr 7:117,538,523...117,565,478
Ensembl chr 7:117,538,523...117,565,478
G
Hsp90aa1
heat shock protein 90 alpha family class A member 1
ISO
protein:decreased expression:serum (human)
RGD
PMID:23948885
RGD:10413860
NCBI chr 6:135,107,262...135,112,793
Ensembl chr 6:135,107,271...135,112,775
G
Hspa13
heat shock protein family A (Hsp70) member 13
ISO
ClinVar Annotator: match by term: Alzheimer's disease
ClinVar
PMID:16369530 PMID:16921174 PMID:24691562
NCBI chr11:14,146,515...14,160,697
Ensembl chr11:14,144,130...14,160,892
G
Hspa1a
heat shock protein family A (Hsp70) member 1A
ISO
DNA:polymorphism: :-110A>C(human)
RGD
PMID:15832029
RGD:10402403
NCBI chr20:4,875,834...4,881,751
Ensembl chr20:4,877,324...4,879,779
G
Hspa1b
heat shock protein family A (Hsp70) member 1B
disease_progression
ISO
DNA:polymorphism: :
RGD
PMID:12967056
RGD:10402401
NCBI chr20:4,877,638...4,880,112
Ensembl chr20:2,699,712...2,701,815
G
Hspa9
heat shock protein family A (Hsp70) member 9
ISO
RGD
PMID:17050040 , PMID:17050040
RGD:10402560 , RGD:10402560
NCBI chr18:27,731,072...27,749,235
Ensembl chr18:27,731,072...27,749,235
G
Hspb1
heat shock protein family B (small) member 1
IEP
mRNA,protein:increased expression:brainstem, astrocyte:
RGD
PMID:25772164
RGD:10402580
NCBI chr12:23,839,390...23,841,051
Ensembl chr12:23,839,399...23,841,049
G
Hspd1
heat shock protein family D (Hsp60) member 1
IDA ISO
protein:increased modification:brain protein:increased expression:mitochondrion: protein:increased expression:cytosol, mitochondrion:
RGD
PMID:15802185 , PMID:22753410 , PMID:22753410
RGD:1624243 , RGD:10402831 , RGD:10402831
NCBI chr 9:61,680,529...61,691,202
Ensembl chr 9:61,680,530...61,690,956
G
Htr1a
5-hydroxytryptamine receptor 1A
ISO
RGD
PMID:20508993
RGD:5683632
NCBI chr 2:36,246,628...36,247,896
Ensembl chr 2:36,246,628...36,247,896
G
Htr6
5-hydroxytryptamine receptor 6
susceptibility
ISO
DNA:silent mutation:cds: 267C>T (human)
RGD
PMID:10624811
RGD:1358662
NCBI chr 5:157,501,202...157,518,870
Ensembl chr 5:157,503,040...157,518,631
G
Htra2
HtrA serine peptidase 2
ISO
protein:increased activity:frontal cortex (human)
RGD
PMID:21163861
RGD:5688722
NCBI chr 4:113,883,671...113,886,833
Ensembl chr 4:113,883,670...113,886,994
G
Icam1
intercellular adhesion molecule 1
ISO
DNA:missense mutation:cds:p.K469E (human)
RGD
PMID:12498973
RGD:1358664
NCBI chr 8:22,035,287...22,047,049
Ensembl chr 8:22,035,256...22,047,059
G
Ide
insulin degrading enzyme
treatment
ISO IEP IDA
protein:decreased expression:cerebrospinal fluid associated with Insulin Resistance CTD Direct Evidence: marker/mechanism
CTD
PMID:17192785 , PMID:12634421 , PMID:28157092 , PMID:28164769 , PMID:29948724 , PMID:26963025 , PMID:28447730 , PMID:28553348 , PMID:30224067
RGD:737718 , RGD:13792829 , RGD:13792824 , RGD:13792800 , RGD:13792798 , RGD:13792793 , RGD:13792792 , RGD:13792790
NCBI chr 1:255,914,465...256,014,168
Ensembl chr 1:255,914,447...256,013,495
G
Igf1
insulin-like growth factor 1
treatment onset susceptibility
ISO
protein:decreased expression:hippocampus: CTD Direct Evidence: marker/mechanism protein:increased expression:serum: DNA:polymorphism:intron: rs972936(human) protein:altered expression:plasma,cerebral spinal fluid:
CTD
PMID:15750215 , PMID:23740209 , PMID:10399774 , PMID:24054991 , PMID:23089282 , PMID:24301648 , PMID:24301648
RGD:10045852 , RGD:10402576 , RGD:10045860 , RGD:10045854 , RGD:10045853 , RGD:10045853
NCBI chr 7:28,412,123...28,491,815
Ensembl chr 7:28,412,198...28,486,609
G
Igf1r
insulin-like growth factor 1 receptor
treatment severity
ISO IEP IMP
DNA: haploinsufficiency:: full knockout dies at birth CTD Direct Evidence: marker/mechanism protein:increased expression: cerebral cortex: protein:increased expression:temporal cortex:
CTD
PMID:15750215 , PMID:20409077 , PMID:23562514 , PMID:18479783 , PMID:18479783 , PMID:16274856 , PMID:16274856 , PMID:19487308
RGD:5686420 , RGD:12904921 , RGD:10045894 , RGD:10045894 , RGD:10045879 , RGD:10045879 , RGD:10045878
NCBI chr 1:128,924,921...129,213,816
Ensembl chr 1:128,924,966...129,206,516
G
Igf2
insulin-like growth factor 2
treatment
IEP ISO
mRNA:decreased expression:brain CTD Direct Evidence: marker/mechanism
CTD
PMID:15750215 , PMID:16627931 , PMID:24685003 , PMID:21040071 , PMID:24887203
RGD:5509963 , RGD:10402559 , RGD:10402558 , RGD:10045934
NCBI chr 1:215,828,102...215,839,081
Ensembl chr 1:215,828,102...215,846,911
G
Igf2r
insulin-like growth factor 2 receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15750215
NCBI chr 1:48,176,095...48,264,482
Ensembl chr 1:48,176,106...48,264,477
G
Igfbp2
insulin-like growth factor binding protein 2
ISO
protein:decreased expression:temporal cortex:
RGD
PMID:18479783
RGD:10045894
NCBI chr 9:80,118,029...80,144,804
Ensembl chr 9:80,118,029...80,144,789
G
Igfbp3
insulin-like growth factor binding protein 3
treatment
ISO
protein:increased expression:serum mRNA:decreased expression:hippocampus
RGD
PMID:23473966 , PMID:10399774 , PMID:24964199
RGD:10402570 , RGD:10402576 , RGD:10402572
NCBI chr14:87,457,647...87,465,374
Ensembl chr14:87,457,647...87,465,374
G
Ikbkb
inhibitor of nuclear factor kappa B kinase subunit beta
treatment
IEP
protein:increased expression:hippocampus:
RGD
PMID:24380241
RGD:10045941
NCBI chr16:74,177,233...74,230,809
Ensembl chr16:74,177,215...74,230,815
G
Il10
interleukin 10
susceptibility treatment
ISO
DNA:SNPs,haplotype: -1082G>A, -819T>C, -592C>A (human)
RGD
PMID:14746878 , PMID:21803105
RGD:1358665 , RGD:7364841
NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
G
Il1a
interleukin 1 alpha
susceptibility disease_progression no_association
ISO
protein:increased expression:microglial cell, cortical layer: DNA:SNP:5'UTR:rs1800587(human)
RGD
PMID:10716257 , PMID:9775393 , PMID:11402127 , PMID:19158434
RGD:1358667 , RGD:10046059 , RGD:10045947 , RGD:10045945
NCBI chr 3:121,824,712...121,836,122
Ensembl chr 3:121,825,412...121,836,086
G
Il1b
interleukin 1 beta
onset no_association treatment
ISO IEP IDA
protein:increased expression:plasma DNA:SNP: :rs1143634 (human) DNA:SNP:promoter:-31T>C (human) CTD Direct Evidence: marker/mechanism
CTD
PMID:18675847 , PMID:16600299 , PMID:20413850 , PMID:18830724 , PMID:18830724 , PMID:23378761 , PMID:26937653 , PMID:24022074 , PMID:24874542 , PMID:29447949 , PMID:22963993
RGD:1626633 , RGD:13793381 , RGD:13792820 , RGD:13792820 , RGD:13792819 , RGD:11522340 , RGD:13792818 , RGD:13792817 , RGD:13792816 , RGD:7204700
NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
G
Il2
interleukin 2
severity
ISO
protein:increased secretion:mononuclear cell:
RGD
PMID:8915041 , PMID:8586980
RGD:10047080 , RGD:10047081
NCBI chr 2:123,847,150...123,851,854
Ensembl chr 2:123,847,150...123,851,854
G
Il3
interleukin 3
ISO
protein:decreased expression:plasma
RGD
PMID:17934472 , PMID:18769539
RGD:5686815 , RGD:5686817
NCBI chr10:39,620,535...39,622,973
Ensembl chr10:39,620,563...39,622,973
G
Il33
interleukin 33
ISS
OMIM:608907
MouseDO
NCBI chr 1:248,112,611...248,147,030
Ensembl chr 1:248,132,090...248,147,029
G
Il4
interleukin 4
ISO
DNA:polymorphisms:promoter
RGD
PMID:20213229
RGD:10402788
NCBI chr10:38,963,979...38,969,531
Ensembl chr10:38,963,979...38,969,531
G
Il6
interleukin 6
treatment
IDA
RGD
PMID:27088818
RGD:11062148
NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
G
Il6r
interleukin 6 receptor
no_association
ISO
protein:increased expression:cerebrospinal fluid, plasma DNA:SNPs:promoter:-208G>A (rs4845617) (human) DNA:SNPs:promoter, exon:-530G>T, 48867A/>C (p.D358A, rs8192284) (human)
RGD
PMID:12664314 , PMID:20197062 , PMID:20197062
RGD:10402808 , RGD:10402810 , RGD:10402810
NCBI chr 2:189,196,180...189,255,987
Ensembl chr 2:189,205,701...189,254,628
G
Il6st
interleukin 6 cytokine family signal transducer
ISO
protein:decreased expression:cerebrospinal fluid
RGD
PMID:10095017
RGD:10402847
NCBI chr 2:44,279,199...44,319,427
Ensembl chr 2:44,289,393...44,314,944
G
Il7
interleukin 7
ISO
RGD
PMID:22571981
RGD:10402933
NCBI chr 2:96,427,884...96,474,979
Ensembl chr 2:96,439,286...96,474,977
G
Inpp5d
inositol polyphosphate-5-phosphatase D
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30320580
NCBI chr 9:94,745,220...94,850,778
Ensembl chr 9:94,745,217...94,850,771
G
Ins1
insulin 1
IEP
mRNA:decreased expression:hippocampus
RGD
PMID:17448147
RGD:2298713
NCBI chr 1:272,799,784...272,800,351
Ensembl chr 1:272,799,784...272,800,347
G
Ins2
insulin 2
IEP ISO
mRNA:decreased expression:cerebral cortex CTD Direct Evidence: marker/mechanism
CTD
PMID:9443474 PMID:15750215 , PMID:17448147
RGD:2298713
NCBI chr 1:215,856,967...215,858,034
Ensembl chr 1:215,856,971...215,858,034
G
Insr
insulin receptor
treatment
ISO IEP
CTD Direct Evidence: marker/mechanism mRNA:decreased expression:brain protein:altered localization:brain, neuron
CTD
PMID:24055495 , PMID:23011726 , PMID:16627931 , PMID:18479783
RGD:10403036 , RGD:5509963 , RGD:10045894
NCBI chr12:1,682,527...1,816,414
Ensembl chr12:1,680,957...1,816,414
G
Iqck
IQ motif containing K
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30820047
NCBI chr 1:188,571,930...188,690,184
Ensembl chr 1:188,571,953...188,688,700
G
Ireb2
iron responsive element binding protein 2
ISO
DNA:SNPs: :rs2656070, rs13180(human)
RGD
PMID:16914832
RGD:6893299
NCBI chr 8:59,450,974...59,503,634
Ensembl chr 8:59,420,123...59,501,118
G
Irs1
insulin receptor substrate 1
treatment severity
ISO IEP
protein:increased expression, increased serine phosphorylation, increased tyrosine phosphorylation:hippocampus CA1 protein:decreased expression:hippocampus: DNA:SNP:cds:rs1801278(human) protein:altered expression:temporal cortex: protein:increased serine phosphorylation:hippocampus
RGD
PMID:22476197 , PMID:23011726 , PMID:22527777 , PMID:23660953 , PMID:24589556 , PMID:18479783 , PMID:22476196
RGD:6482860 , RGD:10403036 , RGD:10045939 , RGD:10045935 , RGD:10045932 , RGD:10045894 , RGD:6482861
NCBI chr 9:88,033,668...88,086,488
Ensembl chr 9:88,033,668...88,086,488
G
Irs2
insulin receptor substrate 2
severity
ISO
mRNA:decreased expression:hippocampus: protein:decreased expression:temporal cortex:
RGD
PMID:19487308 , PMID:24887203 , PMID:18479783
RGD:10045878 , RGD:10045934 , RGD:10045894
NCBI chr16:83,824,515...83,848,569
Ensembl chr16:83,824,430...83,848,684
G
Itpr1
inositol 1,4,5-trisphosphate receptor, type 1
ISO
protein:decreased expression:temporal cortex, frontal cortex (human)
RGD
PMID:8819138
RGD:6482821
NCBI chr 4:140,247,297...140,580,749
Ensembl chr 4:140,247,313...140,580,748
G
Jak2
Janus kinase 2
treatment
ISO
RGD
PMID:18813209
RGD:10403051
NCBI chr 1:247,398,667...247,457,521
Ensembl chr 1:247,398,598...247,458,509
G
Jam2
junctional adhesion molecule 2
ISO
ClinVar Annotator: match by term: Alzheimer's disease
ClinVar
PMID:16369530 PMID:16921174 PMID:24691562
NCBI chr11:24,235,310...24,285,279
Ensembl chr11:24,266,345...24,285,275
G
Kcnc1
potassium voltage-gated channel subfamily C member 1
ISO
mRNA, protein:decreased expression:neocortex (mouse)
RGD
PMID:21912965
RGD:9686062
NCBI chr 1:102,414,352...102,456,718
Ensembl chr 1:102,414,625...102,456,411
G
Kcnc4
potassium voltage-gated channel subfamily C member 4
ISO
mRNA:decreased expression:neocortex (mouse) mRNA, protein:increased expression: frontal cortex
RGD
PMID:21912965 , PMID:15485486
RGD:9686062 , RGD:10411900
NCBI chr 2:210,220,908...210,241,447
Ensembl chr 2:210,220,908...210,241,455
G
Kcnma1
potassium calcium-activated channel subfamily M alpha 1
onset
ISO
DNA:SNP: :rs16934131 (human)
RGD
PMID:21480501
RGD:10412025
NCBI chr15:344,204...1,048,849
Ensembl chr15:344,360...1,047,956
G
Kl
Klotho
treatment
ISO
mRNA,protein:decreased expression:cerebral choroid,serum:
RGD
PMID:23973442
RGD:10403049
NCBI chr12:942,974...987,206
Ensembl chr12:943,006...987,551
G
Klc1
kinesin light chain 1
susceptibility
ISO
DNA:SNPs: :rs8007903, rs3212079 (human) DNA:SNP:intron:56836G>C (human)
RGD
PMID:19911314 , PMID:15364413
RGD:5683908 , RGD:5684007
NCBI chr 6:136,330,151...136,373,716
Ensembl chr 6:136,330,383...136,373,721
G
Klk6
kallikrein related-peptidase 6
ISO
RGD
PMID:12480753 , PMID:12074831
RGD:1358604 , RGD:1358599
NCBI chr 1:99,762,195...99,769,486
Ensembl chr 1:99,762,253...99,769,488
G
Klrg1
killer cell lectin like receptor G1
ISO
ClinVar Annotator: match by term: Alzheimer disease, susceptibility to
ClinVar
PMID:1717945 PMID:9697696 PMID:24033266
NCBI chr 4:155,038,936...155,051,449
Ensembl chr 4:155,039,628...155,051,429
G
L1cam
L1 cell adhesion molecule
ISO
protein:increased expression:cerebrospinal fluid (human)
RGD
PMID:16298234
RGD:6483456
NCBI chr X:156,901,244...156,928,064
Ensembl chr X:156,909,913...156,928,057
G
Ldlr
low density lipoprotein receptor
no_association
ISO
DNA:SNPs:exon:rs5925, rs5927, rs5930 (human) DNA:SNPs:exon (human) DNA:SNPs:exon:rs5925, rs5930, rs11669576 (human) DNA:SNPs: :rs5925, rs2738444, rs11669576 (human)
RGD
PMID:21755005 , PMID:15585340 , PMID:16378661 , PMID:15689450 , PMID:16741934 , PMID:17239995
RGD:5490231 , RGD:5490244 , RGD:5490243 , RGD:5490242 , RGD:5490241 , RGD:5490239
NCBI chr 8:22,750,425...22,773,305
Ensembl chr 8:22,750,336...22,774,903
G
Lep
leptin
treatment
IDA ISO
associated with Obesity CTD Direct Evidence: therapeutic compared to cortisol;protein:altered expression:plasma (human)
CTD
PMID:20157255 , PMID:25296496 , PMID:9755363
RGD:10053617 , RGD:10053632
NCBI chr 4:56,337,695...56,351,818
Ensembl chr 4:56,337,695...56,351,818
G
Lipc
lipase C, hepatic type
no_association
ISO
DNA:SNPs: :rs6074, rs6083, rs6084 (human) DNA:SNPs: :rs6084 (human)
RGD
PMID:17175070 , PMID:17175070
RGD:1600644 , RGD:1600644
NCBI chr 8:77,272,582...77,398,485
Ensembl chr 8:77,272,570...77,398,248
G
Lipi
lipase I
ISO
ClinVar Annotator: match by term: Alzheimer's disease
ClinVar
PMID:16369530 PMID:16921174 PMID:24691562
NCBI chr11:13,960,246...13,999,869
Ensembl chr11:13,960,246...13,999,862
G
Lpl
lipoprotein lipase
no_association severity
ISO
DNA:point mutations: :p.N291S, p.S447X (human) DNA:polymorphism:intron DNA:SNPs: :rs268, rs328 (human) DNA:SNPs: :multiple DNA, mRNA:SNP, decreased expression: :rs285 (human)
RGD
PMID:24004859 , PMID:10206232 , PMID:12133567 , PMID:15331147 , PMID:16013913 , PMID:27897113 , PMID:16965549
RGD:13793392 , RGD:13799353 , RGD:13793397 , RGD:13793396 , RGD:5685661 , RGD:13793395 , RGD:13793393
NCBI chr16:22,537,687...22,561,487
Ensembl chr16:22,537,056...22,561,496
G
Lrp1
LDL receptor related protein 1
treatment
ISO IEP ISS
DNA:SNP:exon 3:C>T (human) OMIM:104300 | OMIM:502500 | OMIM:604154 | OMIM:608907
MouseDO
PMID:9635959 , PMID:19150622 , PMID:29115637
RGD:1358747 , RGD:13800553 , RGD:13799352
NCBI chr 7:70,846,313...70,927,028
Ensembl chr 7:70,846,344...70,926,903
G
Lrp8
LDL receptor related protein 8
no_association
ISO
DNA:polymorphism:exon:2622T>C (human) DNA:polymorphisms: :multiple
RGD
PMID:12399018 , PMID:20208369
RGD:6483064 , RGD:6483065
NCBI chr 5:127,404,348...127,476,636
Ensembl chr 5:127,404,450...127,476,641
G
Lrpap1
LDL receptor related protein associated protein 1
onset
ISO
RGD
PMID:11425005
RGD:1358749
NCBI chr14:80,911,281...80,923,290
Ensembl chr14:80,911,270...80,924,831
G
Maoa
monoamine oxidase A
ISO
RGD
PMID:1627256
RGD:10046060
NCBI chr X:6,554,698...6,620,722
Ensembl chr X:6,554,698...6,620,722
G
Maob
monoamine oxidase B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:7816197 PMID:21075085 , PMID:1627256
RGD:10046060
NCBI chr X:6,430,694...6,533,520
Ensembl chr X:6,430,594...6,533,534
G
Map2
microtubule-associated protein 2
IDA
RGD
PMID:22083255
RGD:6483322
NCBI chr 9:73,204,753...73,462,965
Ensembl chr 9:73,319,710...73,462,972
G
Mapk1
mitogen activated protein kinase 1
treatment onset
ISO
mRNA:increased expression: CA2 field of hippocampus, pyramidal neuron
RGD
PMID:28079060 , PMID:24334724
RGD:13800563 , RGD:13800868
NCBI chr11:88,203,863...88,273,301
Ensembl chr11:88,211,599...88,273,254
G
Mapk10
mitogen activated protein kinase 10
ISO
protein:increased expression:CA1 field of hippocampus:
RGD
PMID:11208906
RGD:10412676
NCBI chr14:8,079,955...8,371,508
Ensembl chr14:8,080,275...8,368,254
G
Mapk14
mitogen activated protein kinase 14
treatment
IEP ISO
mRNA:increased expression:frontal lobe cortex, hippocampus CA2 (rat)
RGD
PMID:20529587 , PMID:17784957
RGD:10047076 , RGD:10047104
NCBI chr20:5,933,290...5,995,137
Ensembl chr20:5,933,303...5,995,137
G
Mapk3
mitogen activated protein kinase 3
treatment
ISO
RGD
PMID:28079060
RGD:13800563
NCBI chr 1:198,192,773...198,198,975
Ensembl chr 1:198,192,773...198,198,975
G
Mapk8
mitogen-activated protein kinase 8
disease_progression
ISO
protein:increased expression:brain,CA1 field of hippocampus:
RGD
PMID:11208906
RGD:10412676
NCBI chr16:9,620,854...9,709,342
Ensembl chr16:9,625,177...9,709,347
G
Mapk9
mitogen-activated protein kinase 9
ISO
protein:increased expression:brain,CA1 field of hippocampus:
RGD
PMID:11208906
RGD:10412676
NCBI chr10:35,333,859...35,374,364
Ensembl chr10:35,333,859...35,374,355
G
Mapt
microtubule-associated protein tau
treatment onset no_association
ISO IDA
ClinVar Annotator: match by term: Alzheimer's disease CTD Direct Evidence: marker/mechanism protein:hyperphosphorylation:brain: DNA:mutation:cds:p.R406W(human) DNA:SNP, haplotypes:promoter:rs242557 (human) DNA:SNPs, haplotypes:promoter:rs242557 (human)
ClinVar CTD
PMID:12852432 PMID:14517953 PMID:15750215 PMID:20157255 PMID:21715663 PMID:25352456 PMID:27117003 PMID:30279455 , PMID:11520987 , PMID:27060945 , PMID:28342971 , PMID:29126976 , PMID:8226987 , PMID:19252918 , PMID:18587238 , PMID:23116876 , PMID:19308965
RGD:1302530 , RGD:13800908 , RGD:13800904 , RGD:13782165 , RGD:10412709 , RGD:10412704 , RGD:10412701 , RGD:8158105 , RGD:8158097
NCBI chr10:92,289,002...92,386,517
Ensembl chr10:92,288,910...92,386,517
G
Mbl2
mannose binding lectin 2
susceptibility
ISO
protein:decreased expression:cerebrospinal fluid (human) DNA:haplotype:promoter:
RGD
PMID:9631454 , PMID:23348713
RGD:4889155 , RGD:12910848
NCBI chr 1:248,435,069...248,442,669
Ensembl chr 1:248,723,397...248,729,962
G
Mcm2
minichromosome maintenance complex component 2
ISO
RGD
PMID:19946466 , PMID:17070803
RGD:10412048 , RGD:10412050
NCBI chr 4:120,825,699...120,840,221
Ensembl chr 4:120,825,699...120,840,111
G
Mdm4
MDM4 regulator of p53
disease_progression
ISO
RGD
PMID:23861893
RGD:10047419
NCBI chr13:49,786,776...49,828,780
Ensembl chr13:49,792,794...49,828,720
G
Mfn1
mitofusin 1
ISO
protein:decreased expression:hippocampus (human)
RGD
PMID:19605646
RGD:7800727
NCBI chr 2:118,929,738...118,971,689
Ensembl chr 2:118,929,738...118,973,698
G
Mfn2
mitofusin 2
ISO IEP
protein:decreased expression:hippocampus (human) protein:increased expression:hippocampus (rat)
RGD
PMID:19605646 , PMID:28302704
RGD:7800727 , RGD:12910737
NCBI chr 5:164,684,244...164,715,414
Ensembl chr 5:164,684,509...164,714,145
G
Mir100
microRNA 100
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25992776
NCBI chr 8:45,746,948...45,747,027
Ensembl chr 8:45,746,948...45,747,027
G
Mir124-3
microRNA 124-3
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:28867212
NCBI chr 3:176,406,205...176,406,291
Ensembl chr 3:176,406,205...176,406,291
G
Mir125b2
microRNA 125b-2
ISO
ClinVar Annotator: match by term: Alzheimer's disease
ClinVar
PMID:16369530 PMID:16921174 PMID:24691562
NCBI chr11:16,097,346...16,097,433
G
Mir146a
microRNA 146a
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22099153 PMID:25992776
NCBI chr10:28,962,476...28,962,570
Ensembl chr10:28,962,476...28,962,570
G
Mir155
microRNA 155
ISO
ClinVar Annotator: match by term: Alzheimer's disease
ClinVar
PMID:16369530 PMID:16921174 PMID:24691562
NCBI chr11:24,176,603...24,176,667
Ensembl chr11:24,176,603...24,176,667
G
Mir296
microRNA 296
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25992776
NCBI chr 3:172,357,490...172,357,567
Ensembl chr 3:172,357,490...172,357,567
G
Mir375
microRNA 375
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25992776
NCBI chr 9:82,161,716...82,161,790
Ensembl chr 9:82,161,716...82,161,790
G
Mir708
microRNA 708
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25992776
NCBI chr 1:161,221,246...161,221,333
Ensembl chr 1:161,221,246...161,221,333
G
Mir99a
microRNA 99a
ISO
ClinVar Annotator: match by term: Alzheimer's disease
ClinVar
PMID:16369530 PMID:16921174 PMID:24691562
NCBI chr11:16,052,153...16,052,233
Ensembl chr11:16,052,153...16,052,233
G
Mirlet7c1
microRNA let-7c-1
ISO
ClinVar Annotator: match by term: Alzheimer's disease
ClinVar
PMID:16369530 PMID:16921174 PMID:24691562
NCBI chr11:16,052,873...16,052,966
Ensembl chr11:16,052,868...16,052,975
G
Mme
membrane metallo-endopeptidase
treatment no_association severity onset
ISS ISO IEP
OMIM:104300 | OMIM:502500 | OMIM:604154 | OMIM:608907 associated with Endotoxemia DNA:SNPs, repeat:multiple:multiple DNA:SNPs:introns:rs1836915, rs6776185, rs6801319 (human) DNA:SNPs, haplotypes:promoter, introns:-204G>C, IVS17-294C>T, IVS22+36C>A (human) DNA:SNPs, repeats, deletion:promoter:multiple DNA:repeats DNA:SNPs:5' utr, 3' utr:rs3736187, rs989692, rs701109 (human) DNA:SNPs: :multiple DNA:SNP: :rs6797911 (human) DNA:SNP:3' utr:rs6665 (human)
MouseDO
PMID:25416980 , PMID:25884928 , PMID:20141738 , PMID:17928142 , PMID:17928142 , PMID:12074840 , PMID:15860464 , PMID:12527400 , PMID:11849775 , PMID:19606063 , PMID:21537452 , PMID:22493749 , PMID:22493749 , PMID:25991605 , PMID:28294061
RGD:13801033 , RGD:13801034 , RGD:13801024 , RGD:13801023 , RGD:13801023 , RGD:13801022 , RGD:13801021 , RGD:13801020 , RGD:1600813 , RGD:13801019 , RGD:13801012 , RGD:13801011 , RGD:13801011 , RGD:13801010 , RGD:13801009
NCBI chr 2:153,799,203...153,880,910
Ensembl chr 2:153,803,349...153,880,738
G
Mmp2
matrix metallopeptidase 2
ISO
protein:decreased expression:platelet
RGD
PMID:21875409
RGD:10059680
NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611
G
Mmp9
matrix metallopeptidase 9
ISO
protein:increased expression:plasma (human)
RGD
PMID:17697439
RGD:7207052
NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
G
Mpo
myeloperoxidase
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Alzheimer disease, susceptibility to
CTD ClinVar
PMID:11087769 PMID:12915675 PMID:15023809 PMID:17304047 PMID:25741868
NCBI chr10:75,087,892...75,098,260
Ensembl chr10:75,087,892...75,098,260
G
Mre11
MRE11 homolog, double strand break repair nuclease
ISO
protein:decreased expression:cerebral cortex (human)
RGD
PMID:15337312
RGD:2317734
NCBI chr 8:13,304,355...13,350,329
Ensembl chr 8:13,305,152...13,352,489
G
Mrpl39
mitochondrial ribosomal protein L39
ISO
ClinVar Annotator: match by term: Alzheimer's disease
ClinVar
PMID:16369530 PMID:16921174 PMID:24691562
NCBI chr11:24,181,605...24,200,022
Ensembl chr11:24,181,658...24,199,968
G
Ms4a4a
membrane spanning 4-domains A4A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21460841
NCBI chr 1:227,574,789...227,606,958
Ensembl chr 1:227,592,635...227,607,042 Ensembl chr 1:227,592,635...227,607,042
G
Mt-nd1
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1
ISO
mRNA:decreased expression:frontal cortex, Brodmann area 9 (human) ClinVar Annotator: match by term: Alzheimer's disease
ClinVar
PMID:7624338 PMID:15972314 , PMID:15075441
RGD:5490287
NCBI chr MT:2,740...3,694
Ensembl chr MT:2,740...3,694
G
Mt-nd2
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2
no_association
ISO
DNA:mutation::m.5460G>A (human)
RGD
PMID:1352971 , PMID:1370613
RGD:5507833 , RGD:5507834
NCBI chr MT:3,904...4,942
Ensembl chr MT:3,904...4,942
G
Mt-nd4
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4
ISO
mRNA:decreased expression:brain
RGD
PMID:10447460
RGD:5508713
NCBI chr MT:10,160...11,537
Ensembl chr MT:10,160...11,537
G
Mt1
metallothionein 1
ISO
RGD
PMID:22766972
RGD:10412319
NCBI chr19:11,301,991...11,303,007
Ensembl chr17:78,793,336...78,793,724
G
Mt2A
metallothionein 2A
ISO IEP
mRNA:decreased expression:cerebral cortex (rat)
RGD
PMID:22766972 , PMID:16914836
RGD:10412319 , RGD:10412320
NCBI chr19:11,307,966...11,308,740
Ensembl chr19:11,307,967...11,308,740
G
Mt3
metallothionein 3
ISO
mRNA:decreased expression:brain mRNA:increased expression:brain
RGD
PMID:1464312 , PMID:10595827 , PMID:16444595 , PMID:19619132
RGD:6480485 , RGD:9685805 , RGD:6480619 , RGD:6480534
NCBI chr19:11,324,708...11,326,112
Ensembl chr19:11,324,698...11,326,139
G
Mthfr
methylenetetrahydrofolate reductase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17192785
NCBI chr 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
G
Nae1
NEDD8 activating enzyme E1 subunit 1
ISO
RGD
PMID:14557245
RGD:2302388
NCBI chr19:653,510...680,378
Ensembl chr19:653,510...680,378
G
Napb
NSF attachment protein beta
ISO
protein:decreased expression:temporal cortex
RGD
PMID:11244216
RGD:10412652
NCBI chr 3:143,017,571...143,063,904
Ensembl chr 3:143,020,454...143,063,983
G
Nbn
nibrin
ISO
RGD
PMID:15337312
RGD:2317734
NCBI chr 5:29,622,347...29,656,877
Ensembl chr 5:29,622,281...29,656,864
G
Ncam1
neural cell adhesion molecule 1
IEP
RGD
PMID:31028587
RGD:40925918
NCBI chr 8:53,836,797...54,134,881
Ensembl chr 8:53,839,098...53,901,358
G
Ncam2
neural cell adhesion molecule 2
ISO
ClinVar Annotator: match by term: Alzheimer's disease
ClinVar
PMID:16369530 PMID:16921174 PMID:24691562
NCBI chr11:19,669,922...20,705,063
Ensembl chr11:20,471,764...20,705,063
G
Ncf2
neutrophil cytosolic factor 2
ISO
protein:altered localization
RGD
PMID:10873554
RGD:2314452
NCBI chr13:70,226,441...70,259,019
Ensembl chr13:70,226,647...70,257,576
G
Ncstn
nicastrin
no_association onset
ISO
CTD Direct Evidence: marker/mechanism DNA:missense mutation, SNPs:exon, intron, 3' utr:multiple DNA:missense mutation: :417N>Y (human) DNA:SNPs, haplotype:introns:multiple protein:increased modification:brain DNA:SNP:promoter:-436C>T (human) DNA:SNPs:promoter:-796T>G, -1216C>A (human) DNA:SNP:promoter:-922G>T (rs10752637) (human)
CTD
PMID:17192785 , PMID:14642438 , PMID:23595812 , PMID:11992262 , PMID:11992262 , PMID:22404891 , PMID:19394408 , PMID:19394408 , PMID:15157994 , PMID:19840113
RGD:13801188 , RGD:13801187 , RGD:13801052 , RGD:13801052 , RGD:13801051 , RGD:13801050 , RGD:13801050 , RGD:13801049 , RGD:13801048
NCBI chr13:90,451,046...90,467,256
Ensembl chr13:90,451,044...90,467,256
G
Ndufa2
NADH:ubiquinone oxidoreductase subunit A2
ISO
RGD
PMID:28474567
RGD:13792588
NCBI chr18:29,585,671...29,587,760
Ensembl chr18:29,585,671...29,587,760
G
Ndufa5
NADH:ubiquinone oxidoreductase subunit A5
ISO
RGD
PMID:19760337
RGD:13801191
NCBI chr 4:51,590,413...51,598,771
Ensembl chr 4:51,590,413...51,598,771
G
Ndufa6
NADH:ubiquinone oxidoreductase subunit A6
ISO
mRNA:increased expression:blood
RGD
PMID:26943237
RGD:11572212
NCBI chr 7:123,583,062...123,586,919
Ensembl chr 7:123,583,062...123,586,919
G
Ndufb3
NADH:ubiquinone oxidoreductase subunit B3
ISO
RGD
PMID:28474567
RGD:13792588
NCBI chr 9:65,478,496...65,488,708
Ensembl chr 9:65,478,496...65,488,702
G
Ndufb8
NADH:ubiquinone oxidoreductase subunit B8
ISO
RGD
PMID:14570706
RGD:1358651
NCBI chr 1:264,298,671...264,303,712
Ensembl chr 1:264,298,669...264,303,762
G
Ndufs3
NADH:ubiquinone oxidoreductase core subunit S3
onset
ISO
RGD
PMID:28242297
RGD:13824970
NCBI chr 3:79,721,686...79,728,863
Ensembl chr 3:79,721,694...79,728,879
G
Nectin2
nectin cell adhesion molecule 2
ISO
DNA:SNP: :rs6859 (human) CTD Direct Evidence: marker/mechanism
CTD
PMID:29107063 PMID:30319691 PMID:30320580 , PMID:22159054
RGD:6484658
NCBI chr 1:80,631,449...80,666,617
Ensembl chr 1:80,631,450...80,666,585
G
Nefm
neurofilament medium
ISO
protein:decreased glycosylation:cerebral cortex
RGD
PMID:17687114
RGD:9743945
NCBI chr15:44,855,307...44,860,604
Ensembl chr15:44,855,310...44,860,604
G
Nfe2l2
nuclear factor, erythroid 2-like 2
onset treatment
ISO IEP
DNA:snps, haplotype:5' utr, intron:multiple (human) protein:increased expression:brain, nucleus
RGD
PMID:20064547 , PMID:19805328 , PMID:22913737 , PMID:23771816
RGD:6893326 , RGD:10412689 , RGD:10412685 , RGD:10412683
NCBI chr 3:62,497,568...62,525,146
Ensembl chr 3:62,497,571...62,524,996
G
Ngb
neuroglobin
treatment
IEP
RGD
PMID:23428737
RGD:9743955
NCBI chr 6:111,126,259...111,131,699
Ensembl chr 6:111,126,261...111,132,320
G
Ngf
nerve growth factor
IEP
RGD
PMID:21368378
RGD:5144128
NCBI chr 2:204,886,158...204,939,523
Ensembl chr 2:204,886,202...204,940,453
G
Ngfr
nerve growth factor receptor
treatment no_association
ISO IEP
protein:altered localization:brain protein:altered expression:urine protein:decreased expression:basal nucleus of telencephalon, neuron DNA:SNPs, haplotypes: :multiple DNA:SNP:CDS:rs2072446 (human)
RGD
PMID:19334058 , PMID:2557638 , PMID:23545424 , PMID:19070649 , PMID:8215963 , PMID:10683291 , PMID:22236693 , PMID:18780967
RGD:5508225 , RGD:10414073 , RGD:10413895 , RGD:10413894 , RGD:10413893 , RGD:10413892 , RGD:10413891 , RGD:5508228
NCBI chr10:83,389,828...83,408,061
Ensembl chr10:83,389,847...83,408,061
G
Nog
noggin
ISO
RGD
PMID:19463786
RGD:10414082
NCBI chr10:76,811,759...76,813,386
Ensembl chr10:76,811,759...76,813,386
G
Nos1
nitric oxide synthase 1
susceptibility no_association
ISO
DNA:repeat:promoter DNA:repeat:exon DNA:SNP:exon:-84G>A (human)
RGD
PMID:21098972 , PMID:12384247 , PMID:10964481 , PMID:17418914 , PMID:17418914
RGD:13824974 , RGD:13824978 , RGD:13824976 , RGD:13824975 , RGD:13824975
NCBI chr12:44,214,949...44,405,530
Ensembl chr12:44,213,943...44,520,341
G
Nos2
nitric oxide synthase 2
IDA ISO
RGD
PMID:21163295 , PMID:12384247 , PMID:16908860
RGD:4891161 , RGD:13824978 , RGD:5508721
NCBI chr10:66,188,290...66,221,621
Ensembl chr10:66,189,786...66,313,190
G
Nos3
nitric oxide synthase 3
onset
ISO
human gene in rat model ClinVar Annotator: match by term: Alzheimer disease, late-onset, susceptibility to CTD Direct Evidence: marker/mechanism DNA:snp:cds:p.E298D (human)
ClinVar CTD
PMID:9737779 PMID:9894802 PMID:10475066 PMID:10510054 PMID:10514107 PMID:11026457 PMID:11354626 PMID:11394896 PMID:11745998 PMID:15007011 PMID:16059745 PMID:16813604 PMID:17165044 PMID:24033266 , PMID:17413318 , PMID:12384247 , PMID:10514107
RGD:2292144 , RGD:13824978 , RGD:1358752
NCBI chr 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410
G
Npy
neuropeptide Y
treatment
IEP ISO
CTD Direct Evidence: marker/mechanism protein:decreased expression:plasma
CTD
PMID:11709213 , PMID:22266216 , PMID:8592643
RGD:10431479 , RGD:10432246
NCBI chr 4:79,557,856...79,565,059
Ensembl chr 4:79,557,854...79,565,097
G
Nrg1
neuregulin 1
disease_progression
ISO
RGD
PMID:12528817 , PMID:29295823
RGD:10449002 , RGD:41404730
NCBI chr16:62,969,573...64,065,063
Ensembl chr16:63,837,216...64,057,434
G
Nrgn
neurogranin
ISO
RGD
PMID:9329454
RGD:9835394
NCBI chr 8:40,015,049...40,023,193
Ensembl chr 8:40,015,049...40,023,193
G
Nrip1
nuclear receptor interacting protein 1
ISO
ClinVar Annotator: match by term: Alzheimer's disease
ClinVar
PMID:16369530 PMID:16921174 PMID:24691562
NCBI chr11:14,658,225...14,742,478
Ensembl chr11:14,658,225...14,741,563
G
Ntf3
neurotrophin 3
ISO
DNA:missense mutation:cds:p.G63E (human)
RGD
PMID:9502217
RGD:1358754
NCBI chr 4:158,636,883...158,705,886
Ensembl chr 4:158,636,884...158,705,886
G
Ntn1
netrin 1
treatment
ISO
RGD
PMID:30066400
RGD:13782183
NCBI chr10:54,761,925...54,982,072
Ensembl chr10:54,761,871...54,967,585
G
Ntrk1
neurotrophic receptor tyrosine kinase 1
disease_progression
ISO
early onset sporadic AD; DNA:SNP:CDS:rs6336 (human) mRNA:decreased expression:brain
RGD
PMID:18780967 , PMID:21397006
RGD:5508228 , RGD:5684531
NCBI chr 2:187,143,568...187,160,373
Ensembl chr 2:187,143,568...187,160,373
G
Ntrk2
neurotrophic receptor tyrosine kinase 2
treatment
ISO IEP
sporadic AD; DNA:SNP:intron:rs2289656 (human)
RGD
PMID:18780967 , PMID:24877042 , PMID:21900882
RGD:5508228 , RGD:10059402 , RGD:5684548
NCBI chr17:5,934,651...6,245,778
Ensembl chr17:5,933,729...6,244,676
G
Nudt1
nudix hydrolase 1
ISO
protein:decreased expression:hippocampus
RGD
PMID:21538080
RGD:10449033
NCBI chr12:16,391,578...16,398,771
Ensembl chr12:16,391,578...16,395,029
G
Opa1
OPA1, mitochondrial dynamin like GTPase
ISO
protein:decreased expression:brain
RGD
PMID:19605646
RGD:7800727
NCBI chr11:74,717,600...74,793,902
Ensembl chr11:74,720,254...74,793,803
G
Pak1
p21 (RAC1) activated kinase 1
ISO
protein:altered localization
RGD
PMID:18347024
RGD:2299169
NCBI chr 1:162,768,156...162,883,356
Ensembl chr 1:162,768,156...162,883,355
G
Parp1
poly (ADP-ribose) polymerase 1
susceptibility
ISO
protein:increased activity:brain: DNA:haplotypes:cds:rs1136410,rs1805404 (human) DNA:haplotypes: :
RGD
PMID:22051244 , PMID:21616968 , PMID:20486200 , PMID:17290104
RGD:5510011 , RGD:10413888 , RGD:10413887 , RGD:10413885
NCBI chr13:98,857,255...98,889,444
Ensembl chr13:98,857,177...98,889,716
G
Pawr
pro-apoptotic WT1 regulator
ISO
mRNA,protein:increased expression:brain:
RGD
PMID:9701251
RGD:9835364
NCBI chr 7:51,273,764...51,353,700
Ensembl chr 7:51,273,771...51,353,068
G
Pcdh11x
protocadherin 11 X-linked
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Alzheimer's disease
CTD ClinVar
PMID:19136949 PMID:29476165
NCBI chr X:92,596,355...93,341,412
G
Pck1
phosphoenolpyruvate carboxykinase 1
disease_progression
ISO
DNA:SNPs DNA:SNP: :rs8192708(human)
RGD
PMID:17440948 , PMID:20574532
RGD:2311642 , RGD:10427727
NCBI chr 3:171,213,936...171,219,885
Ensembl chr 3:171,213,936...171,219,871
G
Pcmt1
protein-L-isoaspartate (D-aspartate) O-methyltransferase 1
ISO
mRNA:increased expression:cerebral cortex:
RGD
PMID:8736634
RGD:10448277
NCBI chr 1:1,734,863...1,767,759
Ensembl chr 1:1,736,276...1,767,618
G
Pcsk1n
proprotein convertase subtilisin/kexin type 1 inhibitor
ISO
RGD
PMID:14746899
RGD:1642360
NCBI chr X:15,324,263...15,327,705
G
Pde2a
phosphodiesterase 2A
treatment
ISO
RGD
PMID:22771768
RGD:10449025
NCBI chr 1:166,534,643...166,626,158
Ensembl chr 1:166,534,643...166,626,158
G
Pdgfb
platelet derived growth factor subunit B
ISO
protein:increased expression:plasma:
RGD
PMID:22279551
RGD:10449445
NCBI chr 7:121,215,458...121,233,092
Ensembl chr 7:121,214,628...121,232,741
G
Pebp1
phosphatidylethanolamine binding protein 1
onset
ISO
mRNA:decreased expression:hippocampus
RGD
PMID:15941609 , PMID:11853019 , PMID:7770119 , PMID:10210891
RGD:2302869 , RGD:2302863 , RGD:2302735 , RGD:2302864
NCBI chr12:45,026,948...45,031,148
Ensembl chr12:45,026,886...45,031,145
G
Pgrmc1
progesterone receptor membrane component 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25390692
NCBI chr X:123,205,869...123,213,880
Ensembl chr X:123,205,869...123,213,882
G
Phactr2
phosphatase and actin regulator 2
ISO
mRNA: splice variants
RGD
PMID:20590401
RGD:6483097
NCBI chr 1:7,352,050...7,633,991
Ensembl chr 1:7,355,154...7,480,825
G
Picalm
phosphatidylinositol binding clathrin assembly protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19734902 PMID:21460841
NCBI chr 1:154,377,229...154,458,966
Ensembl chr 1:154,377,247...154,458,425
G
Pik3cg
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma
ISO
RGD
PMID:20025958
RGD:6482689
NCBI chr 6:51,465,696...51,501,234
Ensembl chr 6:51,465,908...51,498,337
G
Pik3r1
phosphoinositide-3-kinase regulatory subunit 1
onset
ISO
DNA:polymorphism: :p.M326I (human)
RGD
PMID:12185156
RGD:1625215
NCBI chr 2:31,742,326...31,826,882
Ensembl chr 2:31,745,088...31,826,867
G
Pin1
peptidylprolyl cis/trans isomerase, NIMA-interacting 1
ISS
OMIM:104300 | OMIM:502500 | OMIM:604154 | OMIM:608907
MouseDO
NCBI chr 8:21,669,236...21,680,615
Ensembl chr 8:21,669,236...21,680,615
G
Plau
plasminogen activator, urokinase
no_association
ISO
ClinVar Annotator: match by term: Alzheimer disease, late-onset, susceptibility to CTD Direct Evidence: marker/mechanism DNA:SNPs: :multiple mRNA:increased expression:brain
ClinVar CTD
PMID:12898287 PMID:15615772 PMID:15616835 PMID:16341549 PMID:28492532 , PMID:21860091 , PMID:18076107 , PMID:19889475 , PMID:21790972
RGD:6483793 , RGD:6484115 , RGD:6483807 , RGD:6483794
NCBI chr15:3,644,296...3,650,765
Ensembl chr15:3,644,769...3,650,819
G
Plcb1
phospholipase C beta 1
ISS ISO
OMIM:104300 | OMIM:502500 | OMIM:604154 | OMIM:608907
MouseDO
PMID:8534418
RGD:13825140
NCBI chr 3:127,721,244...128,419,565
Ensembl chr 3:128,155,069...128,419,545
G
Plcd1
phospholipase C, delta 1
ISO
RGD
PMID:8534418
RGD:13825140
NCBI chr 8:127,753,514...127,782,070
Ensembl chr 8:127,753,539...127,782,070
G
Plcg1
phospholipase C, gamma 1
ISO
RGD
PMID:8534418
RGD:13825140
NCBI chr 3:156,727,642...156,758,307
Ensembl chr 3:156,727,642...156,758,307
G
Plcg2
phospholipase C, gamma 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28714976
NCBI chr19:50,039,410...50,173,543
Ensembl chr19:50,045,020...50,173,220
G
Pnmt
phenylethanolamine-N-methyltransferase
onset
ISO
DNA:snps:5' utr:g.-390G>A, g.-184G>A rs876493 (human)
RGD
PMID:11378842
RGD:5130171
NCBI chr10:86,340,893...86,342,501
Ensembl chr10:86,340,940...86,342,858
G
Pon1
paraoxonase 1
ISO
DNA:polymorphisms:multiple SNPs (human)
RGD
PMID:16319130
RGD:5509926
NCBI chr 4:30,249,749...30,276,297
Ensembl chr 4:30,249,742...30,276,372
G
Pon2
paraoxonase 2
ISO
DNA:missense mutation:cds:p.C311S (human) DNA:SNPs:multiple
RGD
PMID:11803456 , PMID:16319130
RGD:1580219 , RGD:5509926
NCBI chr 4:30,344,705...30,380,119
Ensembl chr 4:30,344,709...30,380,119
G
Pon3
paraoxonase 3
ISO
DNA:polymorphisms:multiple SNPs (human)
RGD
PMID:16319130
RGD:5509926
NCBI chr 4:30,311,981...30,338,679
Ensembl chr 4:30,311,982...30,338,679
G
Poted
POTE ankyrin domain family member D
ISO
ClinVar Annotator: match by term: Alzheimer's disease
ClinVar
PMID:16369530 PMID:16921174 PMID:24691562
NCBI chr17:66,634,457...66,668,342
Ensembl chr17:66,657,755...66,667,853
G
Ppara
peroxisome proliferator activated receptor alpha
no_association
ISO
DNA:SNP:CDS:rs1800206, p.L162V (human) No association found for any polymorphisms of PPARA, including rs1800206 (human)
RGD
PMID:12938026 , PMID:17850927
RGD:5561899 , RGD:5561928
NCBI chr 7:126,618,872...126,687,282
Ensembl chr 7:126,619,196...126,681,752
G
Pparg
peroxisome proliferator-activated receptor gamma
no_association susceptibility
ISO
DNA:SNPs: :multiple (human) CTD Direct Evidence: marker/mechanism DNA:SNP:cds:p.P12A(human)
CTD
PMID:15993441 PMID:16407166 PMID:30328325 , PMID:18573313 , PMID:17440948
RGD:2301852 , RGD:2311642
NCBI chr 4:147,274,055...147,399,383
Ensembl chr 4:147,274,107...147,399,380
G
Ppargc1a
PPARG coactivator 1 alpha
disease_progression
ISO IDA
mRNA, protein:decreased expression:hippocampal formation (human)
RGD
PMID:22540007 , PMID:22510382 , PMID:19273754
RGD:6484260 , RGD:7242180 , RGD:7242017
NCBI chr14:63,095,291...63,190,688
Ensembl chr14:63,095,720...63,187,009
G
Ppp1r9b
protein phosphatase 1, regulatory subunit 9B
severity
ISO
protein:decreased expression:cerebral cortex (mouse) protein:decreased expression:brain, synaptosome (human)
RGD
PMID:23764848 , PMID:23764848
RGD:10043802 , RGD:10043802
NCBI chr10:82,800,704...82,816,735
Ensembl chr10:82,800,704...82,816,731
G
Ppp2r2b
protein phosphatase 2, regulatory subunit B, beta
ISO
DNA:repeat
RGD
PMID:21029765
RGD:5686295
NCBI chr18:36,985,709...37,421,383
Ensembl chr18:36,985,714...37,245,809
G
Ppp3r1
protein phosphatase 3, regulatory subunit B, alpha
disease_progression
ISO
DNA:SNP: :rs1868402 (human)
RGD
PMID:23727081 , PMID:21223993
RGD:13830878 , RGD:13830879
NCBI chr14:100,311,224...100,360,879
Ensembl chr14:100,311,173...100,360,879
G
Prkcb
protein kinase C, beta
ISO
RGD
PMID:8534418
RGD:13825140
NCBI chr 1:192,233,569...192,575,339
Ensembl chr 1:192,233,910...192,574,831
G
Prkn
parkin RBR E3 ubiquitin protein ligase
treatment
ISO
protein:increased expression:vessel,astrocyte:
RGD
PMID:24105468 , PMID:19716418
RGD:10412735 , RGD:10412736
NCBI chr 1:48,880,015...50,069,998
G
Prnp
prion protein
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Alzheimer disease, early-onset, susceptibility to
CTD 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:17192785 PMID:18955686 PMID:19923577 PMID:25741868
NCBI chr 3:124,515,917...124,531,320
Ensembl chr 3:124,515,978...124,531,316
G
Psen1
presenilin 1
ISO
DNA:missense mutations:cds:multiple (human) CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Alzheimer disease ClinVar Annotator: match by term: Alzheimer's disease ClinVar Annotator: match by term: Early-Onset Familial Alzheimer Disease
CTD ClinVar
PMID:7596406 PMID:8773614 PMID:9384602 PMID:9851443 PMID:9851450 PMID:9915968 PMID:10643802 PMID:11389157 PMID:11524469 PMID:12192622 PMID:15003276 PMID:15622541 PMID:16033913 PMID:16216949 PMID:16449385 PMID:16651627 PMID:16669732 PMID:16923167 PMID:16952411 PMID:17192785 PMID:17573346 PMID:17854491 PMID:17962197 PMID:18227305 PMID:18350357 PMID:18525293 PMID:18667258 PMID:19111578 PMID:19659892 PMID:20194882 PMID:21959359 PMID:22507317 PMID:22810102 PMID:22906081 PMID:23861362 PMID:23990795 PMID:25333068 PMID:25352456 PMID:25714973 PMID:25741868 PMID:25937274 PMID:26166206 PMID:26242991 PMID:26467025 PMID:27117003 PMID:27312774 PMID:27357204 PMID:27535542 PMID:27567873 PMID:27644130 PMID:27930341 PMID:28448946 PMID:28492532 PMID:28554858 PMID:30279455 PMID:31467635 , PMID:7596406 , PMID:29641600
RGD:1302519 , RGD:13782044
NCBI chr 6:107,169,514...107,221,000
Ensembl chr 6:107,169,528...107,216,798
G
Psen2
presenilin 2
severity
ISO
DNA:missense mutation:cds:p.N141I (human) ClinVar Annotator: match by term: Alzheimer's disease ClinVar Annotator: match by term: Early-Onset Familial Alzheimer Disease CTD Direct Evidence: marker/mechanism DNA:missense mutations:cds:p.N141I, p.M239V (human)
RGD ClinVar CTD
PMID:9050898 PMID:9384602 PMID:10976645 PMID:11723295 PMID:12925374 PMID:14623725 PMID:15663477 PMID:16474849 PMID:16651627 PMID:17186461 PMID:17345043 PMID:18667258 PMID:22312439 PMID:22503161 PMID:23383383 PMID:23558482 PMID:23861362 PMID:24880964 PMID:25104557 PMID:25604855 PMID:25741868 PMID:25937274 PMID:26242991 PMID:26467025 PMID:26507310 PMID:26899768 PMID:27060961 PMID:28492532 PMID:29181857 PMID:30045758 , PMID:10976645 , PMID:9246481
RGD:9743900 , RGD:9743900 , RGD:1302522
NCBI chr13:98,513,600...98,539,347
Ensembl chr13:98,513,570...98,530,724
G
Ptger4
prostaglandin E receptor 4
ISO
RGD
PMID:22044482
RGD:6483525
NCBI chr 2:54,951,625...54,966,470
Ensembl chr 2:54,952,821...54,963,448
G
Ptgs1
prostaglandin-endoperoxide synthase 1
IMP ISO
protein:increased expression:cerebral cortex
RGD
PMID:21701788 , PMID:10560656 , PMID:20157512
RGD:5688147 , RGD:5688249 , RGD:5688156
NCBI chr 3:15,560,685...15,582,339
Ensembl chr 3:15,560,712...15,582,344
G
Ptgs2
prostaglandin-endoperoxide synthase 2
IMP ISO
mRNA:decreased expression:neocortex, hippocampus
RGD
PMID:21701788 , PMID:8892355 , PMID:9740394
RGD:5688147 , RGD:5688254 , RGD:5688252
NCBI chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335
G
Ptpn5
protein tyrosine phosphatase, non-receptor type 5
severity
ISO
protein:increased expression:prefrontal cortex (human) protein:increased expression:dentate gyrus (mouse)
RGD
PMID:20427654 , PMID:16237174 , PMID:20956308
RGD:9835008 , RGD:10044037 , RGD:9835007
NCBI chr 1:103,197,918...103,258,309
Ensembl chr 1:103,197,915...103,256,823
G
Pyy
peptide YY
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11709213
NCBI chr10:90,047,989...90,049,155
Ensembl chr10:90,047,993...90,049,112
G
Rbm11
RNA binding motif protein 11
ISO
ClinVar Annotator: match by term: Alzheimer's disease
ClinVar
PMID:16369530 PMID:16921174 PMID:24691562
NCBI chr11:14,005,704...14,015,723
Ensembl chr11:14,005,732...14,014,962
G
Rcan1
regulator of calcineurin 1
ISO
RGD
PMID:11483593
RGD:1580889
NCBI chr11:32,539,689...32,620,274
Ensembl chr11:32,539,683...32,550,539
G
Reg1a
regenerating family member 1 alpha
ISO
mRNA:increased expression:brain (human)
RGD
PMID:2394826
RGD:9850119
NCBI chr 4:109,497,962...109,500,626
Ensembl chr 4:109,497,962...109,501,082
G
Reln
reelin
ISO
protein:increased expression:cerebrospinal fluid (human) protein: increased expression: brain CTD Direct Evidence: marker/mechanism
CTD
PMID:20610758 , PMID:12645087 , PMID:20025970
RGD:729771 , RGD:13207521
NCBI chr 4:9,347,533...9,774,257
Ensembl chr 4:9,347,528...9,773,670
G
RGD1563888
similar to DNA segment, Chr 16, ERATO Doi 472, expressed
ISO
ClinVar Annotator: match by term: Alzheimer's disease
ClinVar
PMID:16369530 PMID:16921174 PMID:24691562
NCBI chr11:17,073,296...17,120,235
Ensembl chr11:17,076,980...17,130,120
G
RT1-Db1
RT1 class II, locus Db1
ISO
RGD
PMID:21473952
RGD:5147563
NCBI chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
G
Runx1
RUNX family transcription factor 1
ISO
associated with Down Syndrome
RGD
PMID:20946940
RGD:6482829
NCBI chr11:32,765,147...33,003,061
Ensembl chr11:32,769,165...33,003,021
G
S100b
S100 calcium binding protein B
severity
ISO IEP
protein:decreased expression:cerebrospinal fluid
RGD
PMID:21080947 , PMID:19705461 , PMID:20105309 , PMID:20953641
RGD:5508775 , RGD:5508798 , RGD:5508787 , RGD:5508780
NCBI chr20:13,130,633...13,142,856
Ensembl chr20:13,130,636...13,142,856
G
Samsn1
SAM domain, SH3 domain and nuclear localization signals, 1
ISO
ClinVar Annotator: match by term: Alzheimer's disease
ClinVar
PMID:16369530 PMID:16921174 PMID:24691562
NCBI chr11:14,252,088...14,405,825
Ensembl chr11:14,253,848...14,304,725
G
Sell
selectin L
severity
ISO
protein:decreased expression:plasma
RGD
PMID:21484243
RGD:5685677
NCBI chr13:82,369,820...82,387,774
Ensembl chr13:82,369,493...82,387,631
G
Selp
selectin P
severity
ISO
protein:decreased expression:plasma
RGD
PMID:21484243
RGD:5685677
NCBI chr13:82,428,914...82,464,629
Ensembl chr13:82,429,063...82,464,628
G
Serpine2
serpin family E member 2
ISO
RGD
PMID:2813392
RGD:2317937
NCBI chr 9:85,560,852...85,629,410
Ensembl chr 9:85,560,863...85,626,094
G
Serpinf1
serpin family F member 1
IDA ISO
protein:increased expression:cerebrospinal fluid, serum (human)
RGD
PMID:17073149 , PMID:28320113
RGD:2312353 , RGD:27226702
NCBI chr10:62,241,750...62,254,145
Ensembl chr10:62,241,756...62,254,287
G
Shc1
SHC adaptor protein 1
ISO
protein:increased phosphorylation:neuron
RGD
PMID:15837797
RGD:1643185
NCBI chr 2:188,745,503...188,757,066
Ensembl chr 2:188,745,503...188,757,066
G
Sirt1
sirtuin 1
treatment
ISO
protein:increased expression:forebrain (mouse)
RGD
PMID:17581637 , PMID:16751189
RGD:2290573 , RGD:10047116
NCBI chr20:26,831,971...26,851,587
Ensembl chr20:26,833,357...26,852,199
G
Sirt3
sirtuin 3
ISO
mRNA:increased expression:brain
RGD
PMID:23139766
RGD:9586045
NCBI chr 1:213,613,502...213,636,061
Ensembl chr 1:213,613,513...213,635,546
G
Slc18a3
solute carrier family 18 member A3
ISO
mRNA, protein:decreased expression:frontal association cortex mRNA:decreased expression:cerebral cortex
RGD
PMID:21743130 , PMID:21333939
RGD:5686430 , RGD:5686673
NCBI chr16:8,682,668...8,685,529
Ensembl chr16:8,682,669...8,685,529
G
Slc25a4
solute carrier family 25 member 4
ISO
RGD
PMID:21958963
RGD:9681463
NCBI chr16:49,266,903...49,270,698
Ensembl chr16:49,266,903...49,270,698
G
Slc2a1
solute carrier family 2 member 1
ISO
RGD
PMID:8179300
RGD:2313620
NCBI chr 5:138,154,677...138,182,897
Ensembl chr 5:138,154,673...138,182,897
G
Slc2a3
solute carrier family 2 member 3
ISO
RGD
PMID:8179300
RGD:2313620
NCBI chr 4:155,549,991...155,626,018
Ensembl chr 4:155,408,233...155,631,856
G
Slc2a4
solute carrier family 2 member 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24055495
NCBI chr10:56,552,921...56,558,562
Ensembl chr10:56,552,983...56,558,487
G
Slc30a4
solute carrier family 30 member 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16580781
NCBI chr 3:114,805,919...114,828,154
Ensembl chr 3:114,805,922...114,828,154
G
Slc30a6
solute carrier family 30 member 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16580781
NCBI chr 6:22,197,003...22,226,364
Ensembl chr 6:22,197,040...22,226,421
G
Slc8a1
solute carrier family 8 member A1
ISO
protein:altered expression:synaptosome:
RGD
PMID:21382638
RGD:13628395
NCBI chr 6:4,244,076...4,564,262
Ensembl chr 6:4,258,991...4,520,604
G
Slc8a2
solute carrier family 8 member A2
ISO
protein:altered expression:synaptosome:
RGD
PMID:21382638
RGD:13628395
NCBI chr 1:78,029,555...78,054,042
Ensembl chr 1:78,025,995...78,060,111
G
Slc8a3
solute carrier family 8 member A3
ISO
protein:altered expression:parietal cortex, synaptosome:
RGD
PMID:21382638
RGD:13628395
NCBI chr 6:104,889,500...105,099,408
Ensembl chr 6:104,891,376...105,097,054
G
Snap91
synaptosome associated protein 91
ISO
protein:decreased expression:dentate gyrus molecular layer,hippocampus,entorhinal, tempocampal corteces: denntate gyrus, hippocampus, entorhinal cortex
RGD
PMID:20847448 , PMID:20847448
RGD:13506238 , RGD:13506238
NCBI chr 8:94,447,558...94,564,772
Ensembl chr 8:94,447,550...94,564,525
G
Snca
synuclein alpha
ISO
human gene in a mouse model protein:increased expression:cerebrospinal fluid
RGD
PMID:11572944 , PMID:18577885
RGD:1302528 , RGD:6478792
NCBI chr 4:90,782,412...90,883,236
Ensembl chr 4:90,782,374...90,882,285
G
Sncb
synuclein, beta
ISO
mRNA:decreased expression:brain
RGD
PMID:11578596
RGD:6480194
NCBI chr17:10,384,472...10,392,776
Ensembl chr17:10,384,511...10,392,843
G
Sncg
synuclein, gamma
ISO
protein:increased expression:cerebrospinal fluid
RGD
PMID:18577885
RGD:6478792
NCBI chr16:10,722,110...10,726,648
Ensembl chr16:10,722,106...10,726,707
G
Snrnp70
small nuclear ribonucleoprotein U1 subunit 70
ISO
protein:increased expression:cerebral cortex (human)
RGD
PMID:24023061
RGD:10448959
NCBI chr 1:101,367,470...101,388,153
Ensembl chr 1:101,367,471...101,388,129
G
Snrpa
small nuclear ribonucleoprotein polypeptide A
ISO
protein:increased expression:cerebral cortex (human)
RGD
PMID:24023061
RGD:10448959
NCBI chr 1:83,999,670...84,008,429
Ensembl chr 1:83,999,671...84,008,293
G
Sod1
superoxide dismutase 1
ISO IEP
mRNA:altered expression:hippocampus, hypothalamus (rat) protein:decreased expression:frontal lobe (human)
RGD
PMID:22072713 , PMID:20027333 , PMID:22072713
RGD:8655610 , RGD:8657017 , RGD:8655610
NCBI chr11:30,363,282...30,368,858
Ensembl chr11:30,363,280...30,368,862
G
Sod2
superoxide dismutase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19374891 , PMID:16369462
RGD:1579972
NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
G
Sorl1
sortilin related receptor 1
ISO
RGD
PMID:15313836
RGD:1581303
NCBI chr 8:46,228,077...46,287,171
G
Spint1
serine peptidase inhibitor, Kunitz type 1
ISO
protein:decreased expression:parietal cortex (human)
RGD
PMID:9743567
RGD:1581317
NCBI chr 3:111,049,132...111,061,991
Ensembl chr 3:111,049,118...111,062,011
G
Stat3
signal transducer and activator of transcription 3
ISO
protein:decreased tyrosine phosphorylation:dentate gyrus protein:decreased tyrosine phosphorylation:dentate gyrus, CA1 field of hippocampus
RGD
PMID:18813209 , PMID:18813209
RGD:10403051 , RGD:10403051
NCBI chr10:88,790,401...88,842,263
Ensembl chr10:88,790,408...88,842,233
G
Stox1
storkhead box 1
severity
ISO
protein:increased expression:CA4 field of hippocampus (human)
RGD
PMID:20110611
RGD:11554028
NCBI chr20:32,276,857...32,353,677
Ensembl chr20:32,276,658...32,353,677
G
Syp
synaptophysin
ISO IEP
protein:decreased expression:dentate gyrus molecular layer,hippocampus,entorhinal, tempocampal corteces: mRNA,protein:decreased expression:hippocampus, temporal cortex denntate gyrus, hippocampus, entorhinal cortex
RGD
PMID:20847448 , PMID:20847448 , PMID:20847448
RGD:13506238 , RGD:13506238 , RGD:13506238
NCBI chr X:15,694,699...15,709,244
Ensembl chr X:15,695,566...15,707,436
G
Tap2
transporter 2, ATP binding cassette subfamily B member
susceptibility
ISO
DNA:SNP: :(rs241448)(human)
RGD
PMID:16595160
RGD:6482265
NCBI chr20:3,995,544...4,009,587
Ensembl chr20:3,995,544...4,009,587
G
Tardbp
TAR DNA binding protein
ISO
protein:increased expression, phosphorylation:motor cortex protein:increased expression:brain
RGD
PMID:21376022 , PMID:21070634
RGD:5687139 , RGD:5687178
NCBI chr 5:165,432,089...165,442,232
Ensembl chr 5:165,432,095...165,442,048
G
Tbp
TATA box binding protein
ISO
protein:increased expression:hippocampus, entorhinal cortex (human)
RGD
PMID:15193429
RGD:5684338
NCBI chr 1:57,491,381...57,509,335
Ensembl chr 1:57,491,643...57,508,449
G
Tdo2
tryptophan 2,3-dioxygenase
treatment
ISO
RGD
PMID:27190010
RGD:13601984
NCBI chr 2:180,897,059...180,914,919
Ensembl chr 2:180,897,011...180,914,940
G
Tf
transferrin
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Transferrin variant c1/c2
CTD ClinVar
PMID:9272172 PMID:15060098 PMID:17192785 PMID:20029940
NCBI chr 8:111,694,570...111,721,275
Ensembl chr 8:111,673,547...111,721,333
G
Tfam
transcription factor A, mitochondrial
susceptibility
ISO
DNA:SNP: :rs1937 (human) CTD Direct Evidence: marker/mechanism DNA:SNP:intron:IVS4+113A>G (rs2306604) (human)
CTD
PMID:17192785 , PMID:21799244 , PMID:17537576
RGD:6767575 , RGD:6771185
NCBI chr20:18,594,057...18,606,106
Ensembl chr20:18,594,037...18,606,151
G
Thbd
thrombomodulin
ISO
RGD
PMID:15760641
RGD:5685018
NCBI chr 3:142,748,673...142,752,325
Ensembl chr 3:142,748,674...142,752,325
G
Timp2
TIMP metallopeptidase inhibitor 2
ISO
RGD
PMID:12614934
RGD:1580169
NCBI chr10:107,338,465...107,386,072
Ensembl chr10:107,338,465...107,386,072
G
Tlr4
toll-like receptor 4
ISO
RGD
PMID:16157451
RGD:1580680
NCBI chr 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052
G
Tmed10
transmembrane p24 trafficking protein 10
ISO
protein:decreased expression:brain cortex (human)
RGD
PMID:18652896
RGD:2317276
NCBI chr 6:109,169,739...109,205,004
Ensembl chr 6:109,169,741...109,205,004
G
Tmprss15
transmembrane serine protease 15
ISO
ClinVar Annotator: match by term: Alzheimer's disease
ClinVar
PMID:16369530 PMID:16921174 PMID:24691562
NCBI chr11:17,561,591...17,684,903
Ensembl chr11:17,561,596...17,684,903
G
Tnf
tumor necrosis factor
no_association onset susceptibility
ISO
DNA:polymorphism:promoter:multiple(human) DNA:polymorphism:promoter:-308G>A(human) protein:decreased expression:brain: DNA:haploltype:promoter:-863A>C,-308G>A(human) protein:increased secretion:serum: CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Alzheimer disease, protection against
CTD ClinVar
PMID:10400991 PMID:16908746 PMID:17192785 , PMID:12962917 , PMID:18834925 , PMID:15468911 , PMID:9772027 , PMID:16516271 , PMID:16908746 , PMID:18992723 , PMID:18992723
RGD:1580320 , RGD:13825257 , RGD:13825256 , RGD:13825255 , RGD:13825253 , RGD:13825250 , RGD:13825248 , RGD:13825248
NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
G
Tnfrsf1a
TNF receptor superfamily member 1A
no_association
ISO
protein:increased expression:brain: protein:increased expression:cerebrospinal fluid:
RGD
PMID:20110607 , PMID:21978728 , PMID:17724122 , PMID:17267158
RGD:13825249 , RGD:13825268 , RGD:13825267 , RGD:13825266
NCBI chr 4:157,864,905...157,877,634
Ensembl chr 4:157,864,969...157,877,633
G
Tnfrsf1b
TNF receptor superfamily member 1B
ISO
protein:decreased expression:brain: protein:increased expression:cerebrospinal fluid:
RGD
PMID:20110607 , PMID:21978728
RGD:13825249 , RGD:13825268
NCBI chr 5:163,136,390...163,167,299
Ensembl chr 5:163,136,390...163,167,299
G
Tomm40
translocase of outer mitochondrial membrane 40
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27023435 PMID:29107063 PMID:30319691 PMID:30320580
NCBI chr 1:80,617,749...80,630,253
Ensembl chr 1:80,618,154...80,630,038
G
Tp53
tumor protein p53
ISO
RGD
PMID:17581637
RGD:2290573
NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
G
Tph1
tryptophan hydroxylase 1
ISO
RGD
PMID:15182943
RGD:1580467
NCBI chr 1:102,669,868...102,699,442
Ensembl chr 1:102,669,868...102,699,442
G
Tpi1
triosephosphate isomerase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19374891
NCBI chr 4:157,328,375...157,331,905
Ensembl chr 4:157,328,379...157,331,905
G
Tpp1
tripeptidyl peptidase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10320038
NCBI chr 1:170,588,036...170,594,159
Ensembl chr 1:170,588,035...170,594,168
G
Trem2
triggering receptor expressed on myeloid cells 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24663666 PMID:28714976
NCBI chr 9:14,611,541...14,618,076
Ensembl chr 9:14,611,561...14,618,013
G
Tsc2
TSC complex subunit 2
ISO
RGD
PMID:16341938
RGD:1580518
NCBI chr10:13,962,006...13,996,684
Ensembl chr10:13,961,947...13,996,584
G
Ttr
transthyretin
ISO
RGD
PMID:16552785
RGD:1580525
NCBI chr18:15,532,963...15,542,180
Ensembl chr18:15,532,963...15,540,177
G
Uchl1
ubiquitin C-terminal hydrolase L1
ISO
RGD
PMID:14722078
RGD:1580538
NCBI chr14:43,133,224...43,143,942
Ensembl chr14:43,133,218...43,143,973
G
Ucp1
uncoupling protein 1
ISO
protein:decreased expression:plasma (human)
RGD
PMID:24498895
RGD:10045648
NCBI chr19:24,456,976...24,464,808
Ensembl chr19:24,456,976...24,464,807
G
Uqcrc1
ubiquinol-cytochrome c reductase core protein 1
ISO
DNA:hypermethylation:promoter: protein:decreased expression:temporal cortex
RGD
PMID:26943237 , PMID:11130185
RGD:11572212 , RGD:13831335
NCBI chr 8:117,679,328...117,691,073
Ensembl chr 8:117,679,278...117,691,071
G
Usp25
ubiquitin specific peptidase 25
ISO
ClinVar Annotator: match by term: Alzheimer's disease
ClinVar
PMID:16369530 PMID:16921174 PMID:24691562
NCBI chr11:15,436,080...15,558,646
Ensembl chr11:15,436,269...15,558,646
G
Vcp
valosin-containing protein
ISO
ClinVar Annotator: match by term: Alzheimer's disease
ClinVar
PMID:30279455
NCBI chr 5:58,426,548...58,445,953
Ensembl chr 5:58,426,549...58,445,953
G
Vegfa
vascular endothelial growth factor A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15732116 , PMID:15732116
RGD:1580571
NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
G
Vim
vimentin
ISO
protein:increased expression:brain
RGD
PMID:19728994 , PMID:19728994
RGD:6480519 , RGD:6480519
NCBI chr17:80,882,715...80,891,200
Ensembl chr17:80,882,666...80,891,212
G
Vldlr
very low density lipoprotein receptor
ISO
DNA:repeat
RGD
PMID:7550352
RGD:737739
NCBI chr 1:245,236,819...245,273,688
Ensembl chr 1:245,237,736...245,269,205
G
Vsnl1
visinin-like 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25806004
NCBI chr 6:37,001,360...37,121,969
Ensembl chr 6:37,001,356...37,122,023
G
Wt1
WT1 transcription factor
ISO
RGD
PMID:12914969
RGD:1580623
NCBI chr 3:95,133,221...95,180,574
Ensembl chr 3:95,133,713...95,180,564
G
Wwox
WW domain-containing oxidoreductase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30820047
NCBI chr19:46,761,353...47,695,247
G
Xrn1
5'-3' exoribonuclease 1
susceptibility
ISO
DNA:snp:intron:c.1883+365T>C (rs1351965) (human)
RGD
PMID:22984654
RGD:11528589
NCBI chr 8:103,774,125...103,883,563
Ensembl chr 8:103,774,358...103,878,899
G
A2m
alpha-2-macroglobulin
ISO
OMIM
NCBI chr 4:154,309,426...154,359,138
Ensembl chr 4:154,309,426...154,359,137
G
App
amyloid beta precursor protein
ISO
ClinVar Annotator: match by term: Alzheimer disease, type 1 ClinVar Annotator: match by term: APP POLYMORPHISM
ClinVar OMIM
PMID:1303239 PMID:1303275 PMID:1415269 PMID:1520398 PMID:1634237 PMID:1671712 PMID:1678057 PMID:1678058 PMID:1679288 PMID:1908231 PMID:1925564 PMID:1944558 PMID:7686976 PMID:7806491 PMID:7845465 PMID:8154870 PMID:8290965 PMID:8499923 PMID:8886002 PMID:9328472 PMID:9754958 PMID:9848098 PMID:10097173 PMID:10441572 PMID:10611368 PMID:10821838 PMID:10867787 PMID:11063718 PMID:11311152 PMID:11487570 PMID:11528419 PMID:11568920 PMID:11910111 PMID:11978821 PMID:12034808 PMID:15365148 PMID:15488330 PMID:15502844 PMID:15668448 PMID:15776278 PMID:16505331 PMID:18413473 PMID:18437002 PMID:19281847 PMID:19363265 PMID:20452985 PMID:20634584 PMID:22503161 PMID:22702962 PMID:23224319 PMID:23515184 PMID:24033266 PMID:24390130 PMID:24524897 PMID:24650794 PMID:24677022 PMID:24694184 PMID:24880964 PMID:25138979 PMID:25948718 PMID:26402770 PMID:26467025 PMID:26803359 PMID:26888304 PMID:27777022 PMID:27838006 PMID:28304299 PMID:28350801 PMID:28492532 PMID:29263818 PMID:29859640 PMID:30045758 PMID:30279455
NCBI chr11:24,425,013...24,641,872
Ensembl chr11:24,425,005...24,641,858
G
Hfe
homeostatic iron regulator
ISO
OMIM
NCBI chr17:43,661,276...43,669,327
Ensembl chr17:43,661,222...43,669,985
G
Mpo
myeloperoxidase
ISO
OMIM
NCBI chr10:75,087,892...75,098,260
Ensembl chr10:75,087,892...75,098,260
G
Nos3
nitric oxide synthase 3
ISO
OMIM
NCBI chr 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410
G
Plau
plasminogen activator, urokinase
ISO
OMIM
NCBI chr15:3,644,296...3,650,765
Ensembl chr15:3,644,769...3,650,819
G
Adam10
ADAM metallopeptidase domain 10
susceptibility
ISO
ClinVar Annotator: match by term: Alzheimer disease 18 CTD Direct Evidence: marker/mechanism
ClinVar CTD OMIM
PMID:19608551 PMID:24055016
NCBI chr 8:77,107,355...77,237,483
Ensembl chr 8:77,107,536...77,237,483
G
Pld3
phospholipase D family, member 3
ISO
ClinVar Annotator: match by term: ALZHEIMER DISEASE 19, LATE-ONSET
ClinVar
PMID:24336208 PMID:25832408 PMID:25832410 PMID:25832411
NCBI chr 1:84,339,269...84,361,686
Ensembl chr 1:84,339,261...84,353,725
G
Apoe
apolipoprotein E
ISO
ClinVar Annotator: match by term: Late onset familial Alzheimer disease
OMIM ClinVar
PMID:2987927 PMID:3922972 PMID:7263700 PMID:8346443 PMID:8618665 PMID:8644717 PMID:9343467 PMID:9932938 PMID:10213549 PMID:10799751 PMID:11835377 PMID:11940689 PMID:11940706 PMID:14741101 PMID:15048896 PMID:15184602 PMID:15326261 PMID:15557508 PMID:15668424 PMID:19605830 PMID:22381401 PMID:23060451 PMID:23296339 PMID:23571587 PMID:24033266 PMID:25741868 PMID:27260402 PMID:32376954
NCBI chr 1:80,612,894...80,616,820
Ensembl chr 1:80,612,895...80,617,057
G
Apoe
apolipoprotein E
ISO
OMIM
NCBI chr 1:80,612,894...80,616,820
Ensembl chr 1:80,612,895...80,617,057
G
Kif5c
kinesin family member 5C
ISO
protein:decreased expression:cerebellum (human)
RGD
PMID:24569455
RGD:12859086
NCBI chr 3:35,014,157...35,257,417
Ensembl chr 3:35,014,538...35,257,407
G
Lrrk2
leucine-rich repeat kinase 2
ISO
ClinVar Annotator: match by term: Early onset Alzheimer disease with behavioral disturbance
ClinVar
PMID:18412265 PMID:18688798 PMID:18716801 PMID:18781329 PMID:19699188 PMID:20301387 PMID:20642453 PMID:21885347 PMID:25243190 PMID:26930193 PMID:28492532
NCBI chr 7:132,857,311...133,018,549
Ensembl chr 7:132,857,628...133,018,584
G
Psen1
presenilin 1
ISO
ClinVar Annotator: match by term: Alzheimer disease, type 3 ClinVar Annotator: match by term: Early onset Alzheimer disease with behavioral disturbance ClinVar Annotator: match by term: ALZHEIMER DISEASE, FAMILIAL, 3
OMIM ClinVar
PMID:1985297 PMID:2025423 PMID:2793034 PMID:7550356 PMID:7581374 PMID:7596406 PMID:7623584 PMID:7942850 PMID:8538334 PMID:8634711 PMID:8634712 PMID:8733303 PMID:8733749 PMID:8755489 PMID:8773614 PMID:8837617 PMID:8910898 PMID:8931704 PMID:8986743 PMID:9007097 PMID:9007311 PMID:9051814 PMID:9052708 PMID:9126060 PMID:9172170 PMID:9189043 PMID:9196071 PMID:9225696 PMID:9384602 PMID:9436726 PMID:9443865 PMID:9450754 PMID:9521418 PMID:9521423 PMID:9540849 PMID:9544835 PMID:9546792 PMID:9680315 PMID:9712537 PMID:9728730 PMID:9804121 PMID:9831473 PMID:9851443 PMID:9851450 PMID:9915968 PMID:10090481 PMID:10327206 PMID:10401002 PMID:10430510 PMID:10439444 PMID:10441572 PMID:10447269 PMID:10448055 PMID:10468510 PMID:10525535 PMID:10548420 PMID:10594046 PMID:10631141 PMID:10643802 PMID:10720282 PMID:10764737 PMID:10783295 PMID:10811883 PMID:11027672 PMID:11070093 PMID:11079548 PMID:11094121 PMID:11124426 PMID:11395394 PMID:11402113 PMID:11432849 PMID:11504726 PMID:11524469 PMID:11568920 PMID:11684347 PMID:11710891 PMID:11895378 PMID:12048239 PMID:12119298 PMID:12192622 PMID:12370477 PMID:12433263 PMID:12484344 PMID:12493631 PMID:12493737 PMID:12552037 PMID:12660785 PMID:12752408 PMID:12805290 PMID:12810495 PMID:12891668 PMID:14557582 PMID:14743455 PMID:14769392 PMID:14966176 PMID:15003276 PMID:15115757 PMID:15205973 PMID:15337637 PMID:15534260 PMID:15622541 PMID:15718035 PMID:15772361 PMID:15776278 PMID:16033913 PMID:16116115 PMID:16216949 PMID:16227967 PMID:16267640 PMID:16344340 PMID:16533963 PMID:16628450 PMID:16669732 PMID:16710641 PMID:16752394 PMID:16805926 PMID:16897084 PMID:16923167 PMID:16930450 PMID:16952411 PMID:17108687 PMID:17186461 PMID:17197420 PMID:17254019 PMID:17288597 PMID:17320044 PMID:17366635 PMID:17431506 PMID:17502474 PMID:17522104 PMID:17545141 PMID:17553989 PMID:17854491 PMID:17931627 PMID:17962197 PMID:17968601 PMID:18350357 PMID:18525293 PMID:18580586 PMID:18587238 PMID:18637955 PMID:18667258 PMID:18760694 PMID:18797263 PMID:19021905 PMID:19111578 PMID:19196715 PMID:19276550 PMID:19276551 PMID:19457079 PMID:19659892 PMID:19915487 PMID:20047059 PMID:20145736 PMID:20157243 PMID:20164095 PMID:20194882 PMID:20332427 PMID:20484632 PMID:20628413 PMID:20634584 PMID:20729396 PMID:20847418 PMID:21094210 PMID:21357415 PMID:21373759 PMID:21559374 PMID:21725313 PMID:21919498 PMID:21952501 PMID:21959359 PMID:22115042 PMID:22118943 PMID:22232349 PMID:22312439 PMID:22343824 PMID:22426017 PMID:22460587 PMID:22461631 PMID:22475797 PMID:22503161 PMID:22505025 PMID:22508690 PMID:22581678 PMID:22584618 PMID:22689192 PMID:22766738 PMID:22810102 PMID:22906081 PMID:23085935 PMID:23114514 PMID:23341831 PMID:23380992 PMID:23383383 PMID:23409063 PMID:23539189 PMID:23570890 PMID:23588422 PMID:23792692 PMID:23843529 PMID:23861362 PMID:23885714 PMID:23990795 PMID:24011544 PMID:24093083 PMID:24121961 PMID:24217025 PMID:24304563 PMID:24352661 PMID:24418614 PMID:24698269 PMID:24773620 PMID:24860142 PMID:24880964 PMID:24928124 PMID:25174650 PMID:25182737 PMID:25239621 PMID:25326637 PMID:25333068 PMID:25471389 PMID:25741723 PMID:25741868 PMID:25921538 PMID:25937274 PMID:25959826 PMID:26051801 PMID:26166206 PMID:26194182 PMID:26214276 PMID:26242991 PMID:26243271 PMID:26337232 PMID:26438723 PMID:26462451 PMID:26467025 PMID:26756738 PMID:26826204 PMID:26923592 PMID:27014058 PMID:27073747 PMID:27100199 PMID:27100200 PMID:27206484 PMID:27264813 PMID:27312774 PMID:27357204 PMID:27454811 PMID:27535542 PMID:27614114 PMID:27644130 PMID:27777022 PMID:27793474 PMID:27810638 PMID:27930341 PMID:28350801 PMID:28492532 PMID:28550247 PMID:28554858 PMID:29316780 PMID:29404783 PMID:29571857 PMID:30045758 PMID:30090657 PMID:30528841 PMID:30590039 PMID:31153663 PMID:31686034
NCBI chr 6:107,169,514...107,221,000
Ensembl chr 6:107,169,528...107,216,798
G
Apoe
apolipoprotein E
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Alzheimer disease, type 4 ClinVar Annotator: match by term: Alzheimer disease familial type 4
CTD ClinVar
PMID:2987927 PMID:3922972 PMID:7263700 PMID:8346443 PMID:8618665 PMID:8644717 PMID:9343467 PMID:9932938 PMID:10213549 PMID:10799751 PMID:11835377 PMID:11940689 PMID:11940706 PMID:14741101 PMID:15048896 PMID:15184602 PMID:15326261 PMID:15557508 PMID:15668424 PMID:19605830 PMID:22381401 PMID:23060451 PMID:23296339 PMID:23571587 PMID:24033266 PMID:25741868 PMID:27260402 PMID:28492532 PMID:32376954
NCBI chr 1:80,612,894...80,616,820
Ensembl chr 1:80,612,895...80,617,057
G
Psen1
presenilin 1
ISO
ClinVar Annotator: match by synonym: ALZHEIMER DISEASE, FAMILIAL, 4 ClinVar Annotator: match by term: Alzheimer disease, type 4
ClinVar
PMID:8910898 PMID:9189043 PMID:9804121 PMID:15205973 PMID:27777022 PMID:27930341 PMID:28350801 PMID:28492532
NCBI chr 6:107,169,514...107,221,000
Ensembl chr 6:107,169,528...107,216,798
G
Psen2
presenilin 2
ISO
ClinVar Annotator: match by term: Alzheimer disease, type 4 ClinVar Annotator: match by term: Alzheimer disease familial type 4 ClinVar Annotator: match by OMIM:606889
OMIM ClinVar
PMID:7550356 PMID:7638622 PMID:7651536 PMID:8661049 PMID:8939861 PMID:8986743 PMID:9050898 PMID:9384602 PMID:9450781 PMID:9813158 PMID:10631141 PMID:10846187 PMID:11193137 PMID:11723295 PMID:12549925 PMID:12925374 PMID:14623725 PMID:14681895 PMID:14769392 PMID:15130954 PMID:15389756 PMID:15663477 PMID:15776278 PMID:16155344 PMID:16474849 PMID:16533963 PMID:16959576 PMID:17186461 PMID:17345043 PMID:18350357 PMID:18427071 PMID:18667258 PMID:18727676 PMID:18833506 PMID:18834536 PMID:19073399 PMID:19659892 PMID:20333730 PMID:20375137 PMID:20420489 PMID:20457965 PMID:20458010 PMID:20634584 PMID:21234330 PMID:21483645 PMID:21544564 PMID:21559247 PMID:21911706 PMID:21959359 PMID:22115042 PMID:22118943 PMID:22249458 PMID:22312439 PMID:22412221 PMID:22475797 PMID:22503161 PMID:22505025 PMID:22753229 PMID:22805202 PMID:22834455 PMID:23365231 PMID:23383383 PMID:23558482 PMID:23861362 PMID:23990795 PMID:24093083 PMID:24559647 PMID:24594196 PMID:24669286 PMID:24704512 PMID:24754482 PMID:24844686 PMID:24880964 PMID:24928124 PMID:25104557 PMID:25323700 PMID:25604855 PMID:25741868 PMID:25937274 PMID:26166204 PMID:26242991 PMID:26467025 PMID:26507310 PMID:26899768 PMID:27060961 PMID:27293189 PMID:27883225 PMID:28008242 PMID:28243073 PMID:28350801 PMID:28492532 PMID:29181857 PMID:30045758 PMID:30279455 PMID:30412492 PMID:30822648 PMID:30954774 PMID:31020001 PMID:225104557
NCBI chr13:98,513,600...98,539,347
Ensembl chr13:98,513,570...98,530,724
G
Abca7
ATP binding cassette subfamily A member 7
susceptibility
ISO
ClinVar Annotator: match by term: ALZHEIMER DISEASE 9, LATE-ONSET CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:25741868 PMID:25807283 PMID:26141617 PMID:27066581 PMID:28492532
NCBI chr 7:12,742,433...12,762,423
Ensembl chr 7:12,742,433...12,762,341
G
App
amyloid beta precursor protein
ISO
ClinVar Annotator: match by term: Alzheimer disease, early-onset, with cerebral amyloid angiopathy
ClinVar
PMID:16369530 PMID:19047566
NCBI chr11:24,425,013...24,641,872
Ensembl chr11:24,425,005...24,641,858
G
App
amyloid beta precursor protein
ISO
ClinVar Annotator: match by term: ALZHEIMER DISEASE, FAMILIAL, 1
ClinVar
PMID:1303239 PMID:1303275 PMID:8499923 PMID:9754958 PMID:9848098 PMID:10821838 PMID:11311152 PMID:11528419 PMID:15365148 PMID:15488330 PMID:15502844 PMID:18413473 PMID:19363265 PMID:23224319 PMID:24033266 PMID:25948718 PMID:26402770 PMID:26467025 PMID:26803359 PMID:28304299 PMID:28350801 PMID:28492532 PMID:29263818 PMID:29859640 PMID:30279455
NCBI chr11:24,425,013...24,641,872
Ensembl chr11:24,425,005...24,641,858
G
Psen1
presenilin 1
ISO
ClinVar Annotator: match by term: Alzheimer disease familial 3, with spastic paraparesis
ClinVar
PMID:24121961 PMID:25741868
NCBI chr 6:107,169,514...107,221,000
Ensembl chr 6:107,169,528...107,216,798
G
Psen1
presenilin 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Alzheimer disease, familial, 3, with spastic paraparesis and apraxia
CTD ClinVar
PMID:11920851 PMID:15534188 PMID:25741868
NCBI chr 6:107,169,514...107,221,000
Ensembl chr 6:107,169,528...107,216,798
G
Psen1
presenilin 1
ISO
ClinVar Annotator: match by term: Alzheimer disease, familial, with spastic paraparesis and unusual plaques ClinVar Annotator: match by term: Alzheimer disease, familial, 3, with unusual plaques ClinVar Annotator: match by term: Alzheimer disease, familial, 3, with spastic paraparesis and unusual plaques
ClinVar
PMID:7550356 PMID:8755489 PMID:9172170 PMID:9546792 PMID:10720282 PMID:11524469 PMID:12370477 PMID:12493737 PMID:14557582 PMID:15159497 PMID:15732120 PMID:19667325 PMID:27930341 PMID:28492532
NCBI chr 6:107,169,514...107,221,000
Ensembl chr 6:107,169,528...107,216,798
G
Trem2
triggering receptor expressed on myeloid cells 2
ISO
ClinVar Annotator: match by term: POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2
ClinVar OMIM
PMID:6681564 PMID:12080485 PMID:12754369 PMID:12925681 PMID:15883308 PMID:19019460 PMID:23150934 PMID:23399524 PMID:24119542 PMID:24685331 PMID:24899047 PMID:25186855 PMID:25615530 PMID:25741868 PMID:25886450 PMID:27067662 PMID:27995897 PMID:28376694 PMID:28492532 PMID:28768830 PMID:29142083
NCBI chr 9:14,611,541...14,618,076
Ensembl chr 9:14,611,561...14,618,013
G
Apoe
apolipoprotein E
ISO
ClinVar Annotator: match by term: Presenile and senile dementia
ClinVar
PMID:2987927 PMID:3922972 PMID:7263700 PMID:8346443 PMID:8618665 PMID:8644717 PMID:9343467 PMID:9932938 PMID:10213549 PMID:10799751 PMID:11835377 PMID:11940689 PMID:11940706 PMID:14741101 PMID:15048896 PMID:15184602 PMID:15326261 PMID:15557508 PMID:15668424 PMID:19605830 PMID:22381401 PMID:23060451 PMID:23296339 PMID:23571587 PMID:24033266 PMID:25741868 PMID:27260402 PMID:32376954
NCBI chr 1:80,612,894...80,616,820
Ensembl chr 1:80,612,895...80,617,057
G
App
amyloid beta precursor protein
ISO
ClinVar Annotator: match by term: Presenile and senile dementia
ClinVar
PMID:1303239 PMID:1303275 PMID:8499923 PMID:9754958 PMID:9848098 PMID:10821838 PMID:11311152 PMID:11409420 PMID:11441013 PMID:11528419 PMID:12654973 PMID:15365148 PMID:15488330 PMID:15502844 PMID:18413473 PMID:19363265 PMID:20228223 PMID:23224319 PMID:24033266 PMID:24878480 PMID:25741868 PMID:25948718 PMID:26104569 PMID:26402770 PMID:26467025 PMID:26803359 PMID:27000221 PMID:27858710 PMID:28304299 PMID:28350801 PMID:28492532 PMID:29263818 PMID:29859640 PMID:30279455
NCBI chr11:24,425,013...24,641,872
Ensembl chr11:24,425,005...24,641,858
G
Hfe
homeostatic iron regulator
ISO
ClinVar Annotator: match by term: Presenile and senile dementia
ClinVar
PMID:678784 PMID:8696333 PMID:8896549 PMID:8896550 PMID:8931958 PMID:8943161 PMID:9024376 PMID:9106528 PMID:9138148 PMID:9162021 PMID:9211748 PMID:9321765 PMID:9326341 PMID:9341868 PMID:9356458 PMID:9439654 PMID:9462220 PMID:9482831 PMID:9585606 PMID:9851896 PMID:9851897 PMID:10381492 PMID:10401000 PMID:10431233 PMID:11358905 PMID:11399207 PMID:11423500 PMID:11479183 PMID:11532995 PMID:11812557 PMID:11874997 PMID:11904676 PMID:12241803 PMID:12429850 PMID:12436244 PMID:12885340 PMID:12915468 PMID:14618419 PMID:14673107 PMID:14729817 PMID:15060098 PMID:15070663 PMID:15280838 PMID:15347835 PMID:15858186 PMID:16132052 PMID:16879202 PMID:17600748 PMID:17828789 PMID:18199861 PMID:18499578 PMID:18504828 PMID:18566337 PMID:19084217 PMID:19159930 PMID:19444013 PMID:19554541 PMID:20301613 PMID:21243428 PMID:21452290 PMID:22531912 PMID:24033266 PMID:24729993 PMID:25741868 PMID:25741869 PMID:26153218 PMID:26365338 PMID:27124787 PMID:28443246 PMID:28492532 PMID:28617828 PMID:30291871 PMID:31220083
NCBI chr17:43,661,276...43,669,327
Ensembl chr17:43,661,222...43,669,985
G
Il1b
interleukin 1 beta
IDA
RGD
PMID:23126199
RGD:7193138
NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
G
Eif2ak3
eukaryotic translation initiation factor 2 alpha kinase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21685912
NCBI chr 4:98,648,513...98,709,695
Ensembl chr 4:98,648,545...98,709,694
G
Map2k6
mitogen-activated protein kinase kinase 6
ISO
RGD
PMID:12392790
RGD:7495833
NCBI chr10:98,707,160...98,823,054
Ensembl chr10:98,706,960...98,823,287
G
Mapt
microtubule-associated protein tau
onset
ISO
ClinVar Annotator: match by term: Progressive supranuclear ophthalmoplegia CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by OMIM:601104 DNA:SNPs, haplotypes:: DNA:SNP, haplotype:promoter, intron:c.-17-19950G>A (rs242557) (human)
OMIM ClinVar CTD
PMID:9629852 PMID:9641683 PMID:9736786 PMID:9789048 PMID:9811325 PMID:9824291 PMID:9836646 PMID:9973279 PMID:10076890 PMID:10100642 PMID:10100846 PMID:10214944 PMID:10218629 PMID:10219785 PMID:10318930 PMID:10359094 PMID:10360762 PMID:10443890 PMID:10514099 PMID:10561502 PMID:10627302 PMID:10767321 PMID:10821687 PMID:10865093 PMID:10932182 PMID:11013246 PMID:11081811 PMID:11102510 PMID:11115852 PMID:11255441 PMID:11402146 PMID:11598310 PMID:11738505 PMID:11756436 PMID:12325083 PMID:12473404 PMID:12565146 PMID:12756133 PMID:12876142 PMID:12975285 PMID:14595660 PMID:15372253 PMID:15489396 PMID:15904919 PMID:16157753 PMID:16571759 PMID:16818492 PMID:17950702 PMID:18357425 PMID:18803694 PMID:18992292 PMID:19304664 PMID:19458322 PMID:19786698 PMID:20130190 PMID:20561037 PMID:21492964 PMID:21555888 PMID:21685912 PMID:21849646 PMID:22022446 PMID:22127750 PMID:22723997 PMID:23047372 PMID:23659495 PMID:24150109 PMID:24218087 PMID:25004446 PMID:25151619 PMID:25319522 PMID:25402454 PMID:25592136 PMID:25741868 PMID:26220942 PMID:26269332 PMID:26467025 PMID:26519432 PMID:27439681 PMID:28492532 , PMID:15792962 , PMID:16839689 , PMID:19879020
RGD:8158100 , RGD:8158099 , RGD:8158095
NCBI chr10:92,289,002...92,386,517
Ensembl chr10:92,288,910...92,386,517
G
Mobp
myelin-associated oligodendrocyte basic protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21685912
NCBI chr 8:128,824,420...128,854,492
Ensembl chr 8:128,824,508...128,850,358
G
Nat2
N-acetyltransferase 2
ISO
RGD
PMID:22424094
RGD:8552652
NCBI chr16:23,960,709...23,991,570
Ensembl chr16:23,961,067...23,991,570
G
Ogg1
8-oxoguanine DNA glycosylase
ISO
protein:increased expression:pontine nucleus, neuron
RGD
PMID:15841414
RGD:8657142
NCBI chr 4:145,282,828...145,289,367
Ensembl chr 4:145,282,797...145,289,326
G
Sod1
superoxide dismutase 1
ISO
protein:increased activity:brain (human)
RGD
PMID:11879807
RGD:8655859
NCBI chr11:30,363,282...30,368,858
Ensembl chr11:30,363,280...30,368,862
G
Srsf2
serine and arginine rich splicing factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25402454
NCBI chr10:105,792,779...105,795,986
Ensembl chr10:105,792,779...105,795,958
G
Stx6
syntaxin 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21685912
NCBI chr13:72,804,218...72,850,757
Ensembl chr13:72,804,218...72,852,967
G
Tardbp
TAR DNA binding protein
ISO
RGD
PMID:20512649
RGD:5687185
NCBI chr 5:165,432,089...165,442,232
Ensembl chr 5:165,432,095...165,442,048
G
Tra2b
transformer 2 beta homolog
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25402454
NCBI chr11:82,373,828...82,392,208
Ensembl chr11:82,373,870...82,392,083
G
Mapt
microtubule-associated protein tau
ISO
OMIM
NCBI chr10:92,289,002...92,386,517
Ensembl chr10:92,288,910...92,386,517
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all