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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:tauopathy
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Accession:DOID:680 term browser browse the term
Definition:A neurodegenerative disease that has_material_basis_in the pathological aggregation of tau protein in so-called neurofibrillary tangles (NFT) in the human brain. (DO)
Synonyms:exact_synonym: tauopathies
 primary_id: MESH:D024801
For additional species annotation, visit the Alliance of Genome Resources.


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tauopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdk5 cyclin dependent kinase 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26945731 NCBI chrNW_004936527:6,478,934...6,483,848 JBrowse link
G Gsk3b glycogen synthase kinase 3 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:26945731 NCBI chrNW_004936536:6,730,070...6,893,818 JBrowse link
G Hdac1 histone deacetylase 1 ISO protein:increased expression:brain: RGD PMID:22918830 RGD:9590098 NCBI chrNW_004936474:15,320,635...15,351,418 JBrowse link
G Mapt microtubule associated protein tau treatment ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:10604746 PMID:11889249 PMID:14595660 PMID:22874558 PMID:24556215 More... RGD:13800888 RGD:13800905 RGD:8158094 NCBI chrNW_004936541:2,381,411...2,479,984 JBrowse link
G Pecam1 platelet and endothelial cell adhesion molecule 1 ISO protein:increased expression:brain, blood vessel (mouse) RGD PMID:21839061 RGD:6771210 NCBI chrNW_004936541:4,873,459...4,919,787 JBrowse link
G Ppp2r5d protein phosphatase 2 regulatory subunit B'delta ISO RGD PMID:21482799 RGD:13515115 NCBI chrNW_004936476:16,922,204...16,945,400 JBrowse link
Alzheimer's disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abat 4-aminobutyrate aminotransferase ISO RGD PMID:1627256 RGD:10046060 NCBI chrNW_004936530:7,543,743...7,621,392 JBrowse link
G Abca1 ATP binding cassette subfamily A member 1 ISO RGD PMID:15024730 RGD:1300323 NCBI chrNW_004936559:7,177,887...7,312,660 JBrowse link
G Abca7 ATP binding cassette subfamily A member 7 ISO ClinVar Annotator: match by term: Alzheimer disease, early onset ClinVar PMID:25741868 PMID:25807283 PMID:26141617 PMID:27066581 PMID:28492532 NCBI chrNW_004936588:460,308...477,382 JBrowse link
G Abcb1 ATP binding cassette subfamily B member 1 ISO RGD PMID:25991605 RGD:13801010 NCBI chrNW_004936763:1,225,355...1,308,257 JBrowse link
G Abcc1 ATP binding cassette subfamily C member 1 ISO RGD PMID:25991605 RGD:13801010 NCBI chrNW_004936501:3,400,971...3,467,061 JBrowse link
G Abi3 ABI family member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28714976 NCBI chrNW_004936490:12,280,717...12,290,602 JBrowse link
G Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase ISO RGD PMID:19700222 RGD:8693570 NCBI chrNW_004936487:17,690,206...17,819,619 JBrowse link
G Acadvl acyl-CoA dehydrogenase very long chain ISO protein:decreased expression:brain RGD PMID:25260493 RGD:10047114 NCBI chrNW_004936595:514,883...520,223 JBrowse link
G Ache acetylcholinesterase (Cartwright blood group) ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:16581404 PMID:22944069 PMID:23047022 RGD:5509844 NCBI chrNW_004936543:856,678...862,080 JBrowse link
G Adam10 ADAM metallopeptidase domain 10 ISO CTD Direct Evidence: marker/mechanism
protein:decreased expression:cerebral cortex, hippocampus
CTD
RGD
PMID:23296102 PMID:24792732 PMID:30820047 RGD:13703032 RGD:13703037 NCBI chrNW_004936471:19,760,709...19,911,759 JBrowse link
G Adam17 ADAM metallopeptidase domain 17 onset ISO DNA:missense mutation: :p.R215I (rs142946965) (human)
protein:decreased expression:cerebral cortex, hippocampus
RGD PMID:24792732 PMID:29988083 RGD:13703037 RGD:13782143 NCBI chrNW_004936532:5,864,851...5,904,005 JBrowse link
G Adam2 ADAM metallopeptidase domain 2 ISO protein:increased expression:brain RGD PMID:10686596 RGD:10047127 NCBI chrNW_004936675:393,160...451,851 JBrowse link
G Adam9 ADAM metallopeptidase domain 9 ISO protein:decreased expression:hippocampus RGD PMID:24792732 RGD:13703037 NCBI chrNW_004936710:2,301,470...2,388,533 JBrowse link
G Adamts1 ADAM metallopeptidase with thrombospondin type 1 motif 1 ISO ClinVar Annotator: match by term: Alzheimer disease ClinVar PMID:16369530 PMID:16921174 PMID:24691562 PMID:25741868 NCBI chrNW_004936640:959,405...967,305 JBrowse link
G Adamts5 ADAM metallopeptidase with thrombospondin type 1 motif 5 ISO ClinVar Annotator: match by term: Alzheimer disease ClinVar PMID:16369530 PMID:16921174 PMID:24691562 PMID:25741868 NCBI chrNW_004936640:857,565...899,355 JBrowse link
G Adipoq adiponectin, C1Q and collagen domain containing ISO protein:increased expression:plasma
protein:increased expression:cerebrospinal fluid, plasma
RGD PMID:20727007 PMID:22213409 RGD:5686377 RGD:5686881 NCBI chrNW_004936578:3,168,599...3,179,369 JBrowse link
G Adra1a adrenoceptor alpha 1A susceptibility ISO RGD PMID:114750 RGD:5688374 NCBI chrNW_004936757:149,366...237,710 JBrowse link
G Adrb3 adrenoceptor beta 3 ISO DNA:missense mutation:cds:p.W64R (human) RGD PMID:17440948 RGD:2311642 NCBI chrNW_004936710:1,410,589...1,413,279 JBrowse link
G Ager advanced glycosylation end-product specific receptor treatment ISO mRNA:increased expression:hippocampus, cerebral cortex (mouse)
protein:increased expression:hippocampus (rat)
protein:increased expression:brain (human)
RGD PMID:8751438 PMID:21593432 PMID:22745485 PMID:23164356 PMID:23396166 RGD:1300365 RGD:6784502 RGD:7244266 RGD:7244287 RGD:7245965 NCBI chrNW_004936727:1,418,342...1,422,005 JBrowse link
G Agt angiotensinogen ISO protein:increased expression:cerebrospinal fluid RGD PMID:21297254 RGD:5129180 NCBI chrNW_004936484:19,713,299...19,721,144 JBrowse link
G Agtr1 angiotensin II receptor type 1 treatment ISO protein:decreased expression:substantia nigra: RGD PMID:8666063 PMID:21929736 RGD:10047395 RGD:10047397 NCBI chrNW_004936519:6,831,096...6,873,977 JBrowse link
G Aif1 allograft inflammatory factor 1 ISO mRNA:increased expression:frontal cortex (human)
protein:altered expression:hippocampus (mouse)
RGD PMID:16340083 PMID:19084047 RGD:2313023 RGD:2313045 NCBI chrNW_004936727:1,907,493...1,909,350 JBrowse link
G Aifm1 apoptosis inducing factor mitochondria associated 1 ISO protein:increased expression:cortex,nucleus:
protein:increased expression:basal forebrain,amygdala:
RGD PMID:22536549 PMID:24915960 RGD:10053592 RGD:10053593 NCBI chrNW_004936479:1,441,508...1,477,133 JBrowse link
G Akap5 A-kinase anchoring protein 5 ISO protein:increased expression:cell soma, dendritic arbor (human) RGD PMID:10460255 RGD:2313287 NCBI chrNW_004936495:8,173,521...8,179,249 JBrowse link
G Akt1 AKT serine/threonine kinase 1 ISO protein:increased tyrosine phosphorylation:cerebral cortex RGD PMID:18023354 RGD:5509085 NCBI chrNW_004936621:620,163...639,115 JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member onset ISO RGD PMID:15126281 RGD:1599042 NCBI chrNW_004936558:4,362,693...4,387,705 JBrowse link
G Alox15 arachidonate 15-lipoxygenase ISO protein:increased expression:brain RGD PMID:15111312 PMID:20570249 RGD:5509595 RGD:5509620 NCBI chrNW_004936677:3,232,183...3,241,307 JBrowse link
G Ambra1 autophagy and beclin 1 regulator 1 ISO RGD PMID:23910655 RGD:14390071 NCBI chrNW_004936562:2,493,823...2,676,868 JBrowse link
G Amfr autocrine motility factor receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:22313999 NCBI chrNW_004936475:8,692,969...8,727,252 JBrowse link
G Ang angiogenin severity ISO protein:decreased expression:serum RGD PMID:22449478 RGD:6892705 NCBI chrNW_004936880:39,372...40,070 JBrowse link
G Anxa5 annexin A5 ISO protein:increased expression: plasma
protein:increased expression:brain, plasma
RGD PMID:20648654 RGD:7242030 NCBI chrNW_004936662:926,302...959,964 JBrowse link
G Apbb1 amyloid beta precursor protein binding family B member 1 susceptibility
no_association
ISO DNA:mutations::multiple
DNA:polymorphism:intron:
DNA:deletion:intron:
mRNA:altered expression:brain:
RGD PMID:9799084 PMID:10723070 PMID:11099823 PMID:12727304 RGD:10054028 RGD:10054031 RGD:10054036 RGD:2301212 NCBI chrNW_004936842:452,682...476,533 JBrowse link
G Apbb2 amyloid beta precursor protein binding family B member 2 onset ISO DNA:SNPs: :rs13133980,rs17443013(human) RGD PMID:15714520 RGD:9684954 NCBI chrNW_004936482:8,166,380...8,489,489 JBrowse link
G Apc APC regulator of WNT signaling pathway ISO protein:increased expression:astrocyte RGD PMID:11547943 RGD:6484525 NCBI chrNW_004936531:6,899,580...7,019,016 JBrowse link
G Aph1a aph-1 homolog A, gamma-secretase subunit treatment ISO RGD PMID:28588301 PMID:29926633 RGD:13703122 RGD:13703123 NCBI chrNW_004936580:552,362...556,027 JBrowse link
G Aph1b aph-1 homolog B, gamma-secretase subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:33589840 NCBI chrNW_004936471:23,839,962...23,869,788 JBrowse link
G Aplp2 amyloid beta precursor like protein 2 ISO RGD PMID:8086458 RGD:734582 NCBI chrNW_004936572:2,205,527...2,277,786 JBrowse link
G Apoa1 apolipoprotein A1 resistance ISO DNA: : :transgenic model RGD PMID:19863188 PMID:20847045 RGD:5508212 RGD:5508218 NCBI chrNW_004936542:2,111,055...2,112,626 JBrowse link
G Apoa4 apolipoprotein A4 no_association ISO DNA:missense mutation:cds:p.Q360H (human)
DNA:snp, haplotype:cds:p.S147N (rs5104) (human)
RGD PMID:9272683 PMID:10559562 PMID:16013913 PMID:21356380 RGD:5685638 RGD:5685661 RGD:5685681 RGD:5685682 NCBI chrNW_004936542:2,098,683...2,101,127 JBrowse link
G Apoc1 apolipoprotein C1 ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:11825674 PMID:29107063 PMID:30319691 RGD:1578472 NCBI chrNW_004936706:1,519,248...1,520,102 JBrowse link
G Apod apolipoprotein D ISO protein:increased expression:cerebrospinal fluid, hippocampus RGD PMID:9751198 RGD:2311209 NCBI chrNW_004936833:260,798...277,060 JBrowse link
G Apoe apolipoprotein E susceptibility
treatment
no_association
ISO DNA:SNP: :APOEe4(human)
ClinVar Annotator: match by term: Alzheimer disease, early onset
DNA:missense mutations, haplotype:cds:p.C112R, (rs7412) (human)
DNA:polymorphism:promoter:-491A>T,-427T>C(human)
RGD
ClinVar
PMID:2987927 PMID:3353383 PMID:3922972 PMID:7263700 PMID:8294487 More... RGD:10427727 RGD:12904712 RGD:6903233 RGD:7771594 NCBI chrNW_004936706:1,512,438...1,516,805 JBrowse link
G Aqp4 aquaporin 4 ISO RGD PMID:21107133 RGD:5148012 NCBI chrNW_004936550:5,931,201...5,943,999 JBrowse link
G Arc activity regulated cytoskeleton associated protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:18503570 NCBI chrNW_004936470:9,185,145...9,188,260 JBrowse link
G Ass1 argininosuccinate synthase 1 ISO protein:increased expression:brain, glial cell (human) RGD PMID:11556547 RGD:4139898 NCBI chrNW_004936487:17,482,307...17,527,407 JBrowse link
G Atf2 activating transcription factor 2 ISO RGD PMID:9138733 PMID:15878807 RGD:10047399 RGD:10047400 NCBI chrNW_004936509:4,729,984...4,826,367 JBrowse link
G Atm ATM serine/threonine kinase disease_progression ISO RGD PMID:23861893 RGD:10047419 NCBI chrNW_004936551:359,134...534,672 JBrowse link
G Atp5f1a ATP synthase F1 subunit alpha treatment
onset
ISO CTD Direct Evidence: marker/mechanism
protein:increased modification:inferior parietal cortex (human)
RGD
CTD
PMID:19374891 PMID:25561935 RGD:13703046 RGD:13703056 NCBI chrNW_004936517:743,036...752,836 JBrowse link
G Atp5f1d ATP synthase F1 subunit delta ISO RGD PMID:28474567 RGD:13792588 NCBI chrNW_004936588:612,255...614,894 JBrowse link
G Atp5mg ATP synthase membrane subunit g ISO RGD PMID:28474567 RGD:13792588 NCBI chrNW_004936542:3,453,287...3,461,125 JBrowse link
G Atp5pf ATP synthase peripheral stalk subunit F6 ISO ClinVar Annotator: match by term: Alzheimer disease ClinVar PMID:16369530 PMID:16921174 PMID:24691562 PMID:25741868 NCBI chrNW_004936640:1,916,711...1,924,823 JBrowse link
G Atp5po ATP synthase peripheral stalk subunit OSCP treatment ISO RGD PMID:30266287 RGD:14696823 NCBI chrNW_004936500:8,444,681...8,454,694 JBrowse link
G Atp6v0e1 ATPase H+ transporting V0 subunit e1 ISO RGD PMID:23211594 RGD:10401913 NCBI chrNW_004936609:2,510,178...2,533,934 JBrowse link
G Atp7a ATPase copper transporting alpha ISO mRNA:decreased expression:pituitary gland, vascular plexus (rat) RGD PMID:20027333 RGD:8657017 NCBI chrNW_004936683:2,874,022...2,936,214 JBrowse link
G Atr ATR serine/threonine kinase ISO RGD PMID:23861893 RGD:10047419 NCBI chrNW_004936540:4,074,543...4,178,859 JBrowse link
G Bace1 beta-secretase 1 treatment
susceptibility
ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:12824768 PMID:16407166 PMID:28763060 PMID:29038004 RGD:1358439 RGD:13782077 RGD:13782083 NCBI chrNW_004936542:2,514,297...2,539,088 JBrowse link
G Bace2 beta-secretase 2 susceptibility ISO DNA:SNP,haplotype:exon:
mRNA,protein:increased expression:gyrus:
RGD PMID:16023140 PMID:22074738 RGD:13782172 RGD:13782180 NCBI chrNW_004936500:2,362,994...2,449,783 JBrowse link
G Bad BCL2 associated agonist of cell death treatment ISO protein:increased expression:temporal cortex, membrane RGD PMID:9507158 PMID:15339646 RGD:10053639 RGD:10053642 NCBI chrNW_004936599:4,924,349...4,933,683 JBrowse link
G Baiap2 BAR/IMD domain containing adaptor protein 2 ISO protein:decreased expression:cerebral cortex, postsynaptic density (human) RGD PMID:23537733 RGD:11576299 NCBI chrNW_004936594:4,797,068...4,863,409 JBrowse link
G Bak1 BCL2 antagonist/killer 1 ISO protein:increased expression:temporal cortex, membrane RGD PMID:9507158 RGD:10053642 NCBI chrNW_004936476:25,347,608...25,354,772 JBrowse link
G Barhl1 BarH like homeobox 1 ISO protein:decreased expression:brain RGD PMID:28956815 RGD:14390165 NCBI chrNW_004936487:19,112,479...19,119,677 JBrowse link
G Bax BCL2 associated X, apoptosis regulator treatment ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:8990132 PMID:16265626 PMID:17639989 PMID:18077176 PMID:21585051 More... RGD:10054039 RGD:10054047 RGD:10054049 RGD:13782186 RGD:13782188 RGD:2293073 NCBI chrNW_004936664:2,968,103...2,973,652 JBrowse link
G Bcan brevican ISO protein:altered modification:brain RGD PMID:20180882 RGD:14392785 NCBI chrNW_004936580:5,816,196...5,828,531 JBrowse link
G Bche butyrylcholinesterase severity ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:16973370 PMID:22012848 PMID:23022600 RGD:5687327 RGD:5688056 NCBI chrNW_004936707:1,784,338...1,913,401 JBrowse link
G Bcl2 BCL2 apoptosis regulator treatment ISO protein:increased expression:temporal cortex, membrane
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:9507158 PMID:16265626 PMID:17639989 PMID:18077176 PMID:21585051 More... RGD:10053642 RGD:10054047 RGD:10054049 RGD:11522767 RGD:13782186 RGD:13782188 RGD:2293073 NCBI chrNW_004936497:2,209,136...2,373,580 JBrowse link
G Bcl2l1 BCL2 like 1 ISO protein:increased expression:temporal cortex, membrane RGD PMID:9507158 RGD:10053642 NCBI chrNW_004936485:18,654,046...18,707,324 JBrowse link
G Bdnf brain derived neurotrophic factor treatment
onset
no_association
ISO DNA:polymorphisms, haplotypes: :196G>A (p.V66M), 270C>T, 11757G>C (human)
CTD Direct Evidence: marker/mechanism
DNA:SNP:CDS:rs1048218 (human)
DNA:polymorphism: :p.V66M (human)
DNA:polymorphisms: :196G>A (p.V66M), 270C>T (human)
protein:decreased expression:parietal cortex
RGD
CTD
PMID:12654514 PMID:16565926 PMID:16627933 PMID:17344400 PMID:18780967 More... RGD:10058980 RGD:10059343 RGD:10059345 RGD:10059346 RGD:10059402 RGD:4891131 RGD:5508228 NCBI chrNW_004936540:5,530,081...5,582,765 JBrowse link
G Becn1 beclin 1 ISO protein:decreased expression:gray matter RGD PMID:18497889 PMID:20863706 RGD:6483101 RGD:6483102 NCBI chrNW_004936490:17,518,100...17,531,126 JBrowse link
G Bin1 bridging integrator 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21460841 PMID:33589840 NCBI chrNW_004936469:44,128,308...44,185,739 JBrowse link
G Bmp4 bone morphogenetic protein 4 ISO RGD PMID:19463786 RGD:10414082 NCBI chrNW_004936697:1,054,237...1,061,468 JBrowse link
G Bptf bromodomain PHD finger transcription factor ISO protein:increased expression:microglia: RGD PMID:9792236 RGD:9586059 NCBI chrNW_004936541:5,261,899...5,396,930 JBrowse link
G Brip1 BRCA1 interacting helicase 1 ISO associated with Down Syndrome;protein:increased ubiquitination:frontal cortex (human) RGD PMID:25391381 RGD:11252150 NCBI chrNW_004936490:3,001,445...3,139,538 JBrowse link
G Btg3 BTG anti-proliferation factor 3 ISO ClinVar Annotator: match by term: Alzheimer disease ClinVar PMID:16369530 PMID:16921174 PMID:24691562 NCBI chrNW_004936505:10,032,333...10,046,008 JBrowse link
G C2 complement C2 ISO DNA:SNP, haplotype: :p.E318D (rs9332739) (human) RGD PMID:22300950 RGD:7401250 NCBI chrNW_004936727:1,602,400...1,615,974 JBrowse link
G C3 complement C3 ISO DNA:SNP: :rs22300199 (human) RGD PMID:22300950 RGD:7401250 NCBI chrNW_004936588:3,985,732...4,023,221 JBrowse link
G C5ar1 complement C5a receptor 1 ISO protein:decreased expression:brain RGD PMID:12759460 RGD:5130177 NCBI chrNW_004936664:1,026,216...1,033,438 JBrowse link
G Cacna1c calcium voltage-gated channel subunit alpha1 C ISO protein:decreased expression:brain RGD PMID:23403102 RGD:13782264 NCBI chrNW_004936606:2,168,104...2,867,560 JBrowse link
G Calm1 calmodulin 1 ISO CTD Direct Evidence: marker/mechanism
protein:decreased expression:cerebellar cortex:
CTD
RGD
PMID:11470324 RGD:13792493 NCBI chrNW_004936488:17,580,425...17,588,480 JBrowse link
G Calml5 calmodulin like 5 ISO protein:altered expression:neuron,glia RGD PMID:11470324 RGD:13792493 NCBI chrNW_004936484:8,999,323...9,000,224 JBrowse link
G Camk2a calcium/calmodulin dependent protein kinase II alpha ISO RGD PMID:15621017 RGD:13681926 NCBI chrNW_004936504:4,636,863...4,700,887 JBrowse link
G Capn1 calpain 1 onset ISO protein:increased activity:brain: RGD PMID:8622780 PMID:11231011 RGD:13792495 RGD:13792663 NCBI chrNW_004936599:4,178,963...4,201,037 JBrowse link
G Capn2 calpain 2 ISO protein:increased expression:cytosol RGD PMID:9654354 RGD:13792661 NCBI chrNW_004936526:879,765...932,682 JBrowse link
G Casp2 caspase 2 ISO RGD PMID:12633148 RGD:13782269 NCBI chrNW_004936527:739,325...754,259 JBrowse link
G Casp3 caspase 3 treatment ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:10319819 PMID:12633148 PMID:18077176 PMID:29587274 PMID:29642617 More... RGD:13782186 RGD:13782188 RGD:13782269 RGD:13782291 RGD:734692 NCBI chrNW_004936554:4,571,072...4,593,765 JBrowse link
G Casp6 caspase 6 ISO RGD PMID:12633148 RGD:13782269 NCBI chrNW_004936563:912,502...920,025 JBrowse link
G Casp7 caspase 7 ISO DNA:SNPs, haplotype RGD PMID:12633148 PMID:26621834 RGD:11344490 RGD:13782269 NCBI chrNW_004936486:4,082,664...4,114,942 JBrowse link
G Casp8 caspase 8 treatment ISO RGD PMID:12633148 PMID:16772874 PMID:29642617 RGD:13782268 RGD:13782269 RGD:13782291 NCBI chrNW_004936726:554,627...596,334 JBrowse link
G Casp9 caspase 9 treatment ISO RGD PMID:12633148 PMID:29777699 RGD:13782186 RGD:13782269 NCBI chrNW_004936474:3,178,097...3,196,130 JBrowse link
G Cass4 Cas scaffold protein family member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30320580 PMID:33589840 NCBI chrNW_004936875:344,008...359,881 JBrowse link
G Cast calpastatin ISO protein:decreased expression:brain RGD PMID:19020018 PMID:20595388 RGD:5509799 RGD:5509809 NCBI chrNW_004936523:6,688,153...6,798,184 JBrowse link
G Ccdc6 coiled-coil domain containing 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:33589840 NCBI chrNW_004936614:3,093,083...3,206,147 JBrowse link
G Ccl5 C-C motif chemokine ligand 5 ISO mRNA:increased expression:cerebrum, blood vessels (human) RGD PMID:18440671 RGD:4890025 NCBI chrNW_004936490:253,279...259,947 JBrowse link
G Ccng1 cyclin G1 ISO protein:increased expression:brain, neuron RGD PMID:12214116 RGD:2316025 NCBI chrNW_004936515:614,287...621,213 JBrowse link
G Cd36 CD36 molecule ISO RGD PMID:16563568 RGD:6893531 NCBI chrNW_004936810:791,823...838,303 JBrowse link
G Cd40 CD40 molecule ISO RGD PMID:21414686 RGD:5490302 NCBI chrNW_004936514:6,936,915...6,947,246 JBrowse link
G Cd40lg CD40 ligand ISO protein:increased expression:frontal cortex, astrocyte RGD PMID:11755016 RGD:8547803 NCBI chrNW_004936513:10,607,617...10,620,403 JBrowse link
G Cdc42 cell division cycle 42 ISO RGD PMID:10817927 RGD:5688277 NCBI chrNW_004936474:7,556,765...7,598,687 JBrowse link
G Cdk5 cyclin dependent kinase 5 treatment ISO DNA:SNP:intron:g.149800G>C (human) RGD PMID:15917097 PMID:28085018 PMID:28269780 RGD:13508590 RGD:13782365 RGD:13792587 NCBI chrNW_004936527:6,478,934...6,483,848 JBrowse link
G Cdk5r1 cyclin dependent kinase 5 regulatory subunit 1 ISO DNA:SNP:3' UTR:rs735555 (human) RGD PMID:19154537 PMID:24725413 PMID:28578378 RGD:13782362 RGD:13782363 RGD:13782364 NCBI chrNW_004936538:2,411,194...2,415,106 JBrowse link
G Cdk7 cyclin dependent kinase 7 ISO protein:increased expression:neuron: RGD PMID:11124424 RGD:10059352 NCBI chrNW_004936480:307,089...339,515 JBrowse link
G Cebpa CCAAT enhancer binding protein alpha ISO protein:decreased expression:forebrain, hindbrain (mouse)
mRNA:increased expression:hippocampus (human)
RGD PMID:14769913 PMID:21492414 RGD:10401190 RGD:10401224 NCBI chrNW_004936570:2,513,561...2,516,213 JBrowse link
G Cftr CF transmembrane conductance regulator ISO protein:decreased expression:hypothalamus RGD PMID:14757935 RGD:11566025 NCBI chrNW_004936589:1,565,933...1,719,208 JBrowse link
G Chat choline O-acetyltransferase ISO DNA:polymorphism:CDS:4G>A RGD PMID:12401548 PMID:16834974 RGD:1358495 RGD:1600851 NCBI chrNW_004936728:653,654...702,433 JBrowse link
G Chodl chondrolectin ISO ClinVar Annotator: match by term: Alzheimer disease ClinVar PMID:16369530 PMID:16921174 PMID:24691562 NCBI chrNW_004936505:10,581,676...10,603,863 JBrowse link
G Chrna4 cholinergic receptor nicotinic alpha 4 subunit ISO RGD PMID:15465084 RGD:1358509 NCBI chrNW_004936514:10,680,893...10,695,859 JBrowse link
G Chrna7 cholinergic receptor nicotinic alpha 7 subunit ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:15465084 PMID:18071042 RGD:1358509 NCBI chrNW_004937351:32,324...46,871 JBrowse link
G Chrnb2 cholinergic receptor nicotinic beta 2 subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:17192785 NCBI chrNW_004936580:4,165,255...4,179,285 JBrowse link
G Cib1 calcium and integrin binding 1 ISO protein:decreased expression:brain (human) RGD PMID:15885068 RGD:10401854 NCBI chrNW_004936483:15,963,863...15,967,458 JBrowse link
G Clock clock circadian regulator susceptibility ISO DNA:snp:intron:c.560-1279C>G (rs4580704) (human)
DNA:snp:3' utr:c.3111T>C (human)
DNA:snp:intron:c.982+247G>C (rs1554483) (human)
RGD PMID:23357097 PMID:23781009 PMID:23912676 RGD:10401861 RGD:10401862 RGD:10401872 NCBI chrNW_004936482:17,789,834...17,900,371 JBrowse link
G Clu clusterin ISO ClinVar Annotator: match by term: Alzheimer disease ClinVar PMID:28492532 PMID:29476165 NCBI chrNW_004936675:499,745...513,515 JBrowse link
G Crh corticotropin releasing hormone ISO protein:decreased expression:cerebral cortex (human)
CTD Direct Evidence: therapeutic
RGD
CTD
PMID:7477348 RGD:5508831 NCBI chrNW_004936496:7,759,656...7,761,555 JBrowse link
G Csf1r colony stimulating factor 1 receptor ISO ClinVar Annotator: match by term: Alzheimer disease ClinVar PMID:30279455 NCBI chrNW_004936504:4,898,947...4,927,195 JBrowse link
G Csnk1a1 casein kinase 1 alpha 1 ISO protein:increased expression:CA1 field of hippocampus: RGD PMID:10514399 RGD:10395229 NCBI chrNW_004936504:5,351,354...5,394,856 JBrowse link
G Csnk1d casein kinase 1 delta severity ISO mRNA,protein:increased expression:brain:
protein:increased expression:CA1 field of hippocampus:
RGD PMID:10514399 PMID:10814741 RGD:10395229 RGD:10395230 NCBI chrNW_004936594:5,720,887...5,743,206 JBrowse link
G Ctnnb1 catenin beta 1 treatment ISO protein:decreased expression:nucleus:
protein:decreased expression:hippocampus
protein:increased expression:neuron,cytoplasm:
RGD PMID:11226152 PMID:12610652 PMID:15781969 RGD:10395258 RGD:10395276 RGD:1302533 NCBI chrNW_004936473:29,999,542...30,034,610 JBrowse link
G Ctsd cathepsin D ISO protein:decreased expression:lymphocyte: RGD PMID:11304834 PMID:15907478 RGD:1358532 RGD:1358533 NCBI chrNW_004936816:680,798...690,959 JBrowse link
G Ctss cathepsin S ISO RGD PMID:7717452 RGD:5686914 NCBI chrNW_004936580:963,176...991,732 JBrowse link
G CUNH21orf91 chromosome unknown C21orf91 homolog ISO ClinVar Annotator: match by term: Alzheimer disease ClinVar PMID:16369530 PMID:16921174 PMID:24691562 NCBI chrNW_004936505:10,190,248...10,219,502 JBrowse link
G Cxadr CXADR Ig-like cell adhesion molecule ISO ClinVar Annotator: match by term: Alzheimer disease ClinVar PMID:16369530 PMID:16921174 PMID:24691562 NCBI chrNW_004936505:9,971,393...10,032,238 JBrowse link
G Cyyr1 cysteine and tyrosine rich 1 ISO ClinVar Annotator: match by term: Alzheimer disease ClinVar PMID:16369530 PMID:16921174 PMID:24691562 PMID:25741868 NCBI chrNW_004936640:1,188,692...1,293,716 JBrowse link
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:17912741 PMID:18338803 RGD:10395286 RGD:10398820 RGD:10398821 NCBI chrNW_004936597:1,735,589...1,751,628 JBrowse link
G Ddr1 discoidin domain receptor tyrosine kinase 1 treatment ISO RGD PMID:28863860 RGD:150519888 NCBI chrNW_004936837:523,227...538,799 JBrowse link
G Dhcr24 24-dehydrocholesterol reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23042211 NCBI chrNW_004936522:6,423,561...6,447,363 JBrowse link
G Dlg4 discs large MAGUK scaffold protein 4 ISO RGD PMID:24156266 RGD:13792688 NCBI chrNW_004936595:487,918...513,843 JBrowse link
G Dlst dihydrolipoamide S-succinyltransferase susceptibility ISO DNA:polymorphisms: : RGD PMID:10227647 RGD:1358587 NCBI chrNW_004936488:4,038,985...4,061,071 JBrowse link
G Dnm1 dynamin 1 ISO protein:decreased expression:hippocampus,entorhinal cortex:
denntate gyrus, hippocampus, entorhinal cortex
mRNA,protein:decreased expression:hippocampus, temporal cortex
RGD PMID:20847448 RGD:13506238 NCBI chrNW_004936487:15,767,897...15,797,722 JBrowse link
G Dnm1l dynamin 1 like ISO protein:decreased expression:hippocampus (human) RGD PMID:19605646 RGD:7800727 NCBI chrNW_004936607:3,576,357...3,632,423 JBrowse link
G Dpysl2 dihydropyrimidinase like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19374891 NCBI chrNW_004936757:311,317...422,870 JBrowse link
G Drd1 dopamine receptor D1 ISO protein:decreased expression:frontal cortex, neuron RGD PMID:17182012 RGD:5686412 NCBI chrNW_004936609:790,647...795,187 JBrowse link
G Drd2 dopamine receptor D2 ISO protein:decreased expression:blood, lymphocyte RGD PMID:11087905 RGD:5686416 NCBI chrNW_004936612:1,094,686...1,154,149 JBrowse link
G Drd3 dopamine receptor D3 ISO protein:decreased expression:frontal cortex, neuron RGD PMID:17182012 RGD:5686412 NCBI chrNW_004936536:1,580,732...1,616,726 JBrowse link
G Drd4 dopamine receptor D4 ISO protein:decreased expression:frontal cortex, neuron RGD PMID:17182012 RGD:5686412 NCBI chrNW_004936888:468,334...471,254 JBrowse link
G Drd5 dopamine receptor D5 ISO protein:increased expression:frontal cortex, neuron RGD PMID:17182012 RGD:5686412 NCBI chrNW_004936477:16,860,222...16,863,505 JBrowse link
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 ISO protein:increased expression:brain RGD PMID:9402150 RGD:13207349 NCBI chrNW_004936835:225,879...290,160 JBrowse link
G E2f1 E2F transcription factor 1 ISO protein:increased expression:cerebral cortex,cytoplasm: RGD PMID:11939591 RGD:10401093 NCBI chrNW_004936561:6,894,827...6,901,058 JBrowse link
G Ece1 endothelin converting enzyme 1 ISO RGD PMID:15340356 RGD:1580902 NCBI chrNW_004936474:7,034,134...7,083,005 JBrowse link
G Eef1a2 eukaryotic translation elongation factor 1 alpha 2 ISO protein:increased expression:CA1field of hippocampus: RGD PMID:8750861 RGD:10401216 NCBI chrNW_004936514:10,799,002...10,807,132 JBrowse link
G Eef2 eukaryotic translation elongation factor 2 ISO protein:hyperphosphorylation:brain: RGD PMID:1331687 RGD:10401652 NCBI chrNW_004936588:2,259,236...2,267,692 JBrowse link
G Eef2k eukaryotic elongation factor 2 kinase ISO RGD PMID:16098202 RGD:10401651 NCBI chrNW_004936501:7,160,134...7,205,231 JBrowse link
G Egf epidermal growth factor ISO protein:decreased expression:platelet RGD PMID:21875409 RGD:10059680 NCBI chrNW_004936563:1,058,803...1,181,393 JBrowse link
G Egfr epidermal growth factor receptor treatment ISO RGD PMID:23019586 RGD:10059684 NCBI chrNW_004936678:365,005...560,546 JBrowse link
G Egr1 early growth response 1 treatment ISO protein:increased expression:temporal cortex, hippocampus (human) RGD PMID:21489990 PMID:21969301 PMID:23642031 RGD:10395277 RGD:10395279 RGD:5131647 NCBI chrNW_004936531:7,625,956...7,629,041 JBrowse link
G Eif2ak2 eukaryotic translation initiation factor 2 alpha kinase 2 ISO protein:increased threonine phosphorylation:hippocampus RGD PMID:15567511 PMID:24315369 RGD:10395344 RGD:10395348 NCBI chrNW_004936663:1,127,047...1,157,263 JBrowse link
G Eif2s1 eukaryotic translation initiation factor 2 subunit alpha severity ISO protein:increased phosphorylation:hippocampus
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:16691116 PMID:16954686 PMID:17406652 PMID:24315369 RGD:10395316 RGD:10395343 RGD:10395344 NCBI chrNW_004936495:10,746,687...10,769,304 JBrowse link
G Elk1 ETS transcription factor ELK1 ISO RGD PMID:20126313 RGD:7488914 NCBI chrNW_004936502:13,402,726...13,418,214 JBrowse link
G Eno1 enolase 1 ISO CTD Direct Evidence: marker/mechanism
protein:increased S-glutathionylation, decreased activity:inferior parietal cortex
CTD
RGD
PMID:17387692 PMID:19374891 RGD:13792613 NCBI chrNW_004936623:3,115,357...3,130,289 JBrowse link
G Ep300 E1A binding protein p300 ISO mRNA:increased expression:temporal cortex (human) RGD PMID:23585551 RGD:7327146 NCBI chrNW_004936492:696,982...778,132 JBrowse link
G Epha1 EPH receptor A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21460840 PMID:21460841 NCBI chrNW_004936527:833,578...847,824 JBrowse link
G Epha4 EPH receptor A4 ISO protein:decreased expression:hippocampus RGD PMID:19542617 RGD:6218956 NCBI chrNW_004936569:3,539,269...3,670,322 JBrowse link
G Ephb2 EPH receptor B2 ameliorates ISO RGD PMID:21113149 RGD:12859080 NCBI chrNW_004936474:8,109,800...8,203,106 JBrowse link
G Ephx1 epoxide hydrolase 1 ISO protein:increased expression:hippocampus RGD PMID:16630050 RGD:5688388 NCBI chrNW_004936526:2,589,254...2,652,831 JBrowse link
G Epo erythropoietin treatment ISO RGD PMID:22004348 PMID:23813967 RGD:10395389 RGD:10400882 NCBI chrNW_004936543:742,722...745,332 JBrowse link
G Epor erythropoietin receptor ISO protein:increased expression:brain, astrocyte RGD PMID:17483696 RGD:10395387 NCBI chrNW_004936659:1,468,391...1,473,880 JBrowse link
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit ISO protein:increased expression:brain RGD PMID:9714461 RGD:5688738 NCBI chrNW_004936706:1,816,561...1,829,638 JBrowse link
G Ercc3 ERCC excision repair 3, TFIIH core complex helicase subunit ISO protein:increased expression:brain RGD PMID:9714461 RGD:5688738 NCBI chrNW_004936469:43,970,002...43,998,279 JBrowse link
G Esr1 estrogen receptor 1 ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:10558867 PMID:17192785 RGD:1358612 NCBI chrNW_004936489:4,616,839...4,887,179 JBrowse link
G Esr2 estrogen receptor 2 susceptibility ISO protein:decreased expression:choroid plexus
DNA:SNPs:3' utr: (rs4986938), (rs1255953) (human)
DNA:snps:introns:IVS3-1880C>T, IVS4+1231C>T (rs1271573, rs1256043) (human)
mRNA:increased expression:cerebral cortex
RGD PMID:15082146 PMID:15916731 PMID:15944651 PMID:17132983 RGD:5508768 RGD:5508772 RGD:5508784 RGD:8693346 NCBI chrNW_004936495:7,956,168...8,018,356 JBrowse link
G F2 coagulation factor II, thrombin ISO CTD Direct Evidence: marker/mechanism CTD PMID:8333868 NCBI chrNW_004936562:2,371,725...2,388,617 JBrowse link
G Fabp3 fatty acid binding protein 3 ISO protein:decreased expression:cerebral cortex (human) RGD PMID:15068254 RGD:1578460 NCBI chrNW_004936474:14,576,582...14,584,362 JBrowse link
G Fadd Fas associated via death domain ISO RGD PMID:16085017 RGD:13782385 NCBI chrNW_004936599:633,501...639,412 JBrowse link
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 chrNW_004936735:209,369...234,582 JBrowse link
G Fgf1 fibroblast growth factor 1 ISO RGD PMID:20079650 RGD:5509878 NCBI chrNW_004936504:11,590,687...11,684,410 JBrowse link
G Fgfr1 fibroblast growth factor receptor 1 ISO RGD PMID:9748519 RGD:10402073 NCBI chrNW_004936710:1,760,365...1,815,269 JBrowse link
G Fis1 fission, mitochondrial 1 ISO protein:increased expression:hippocampus (human) RGD PMID:19605646 RGD:7800727 NCBI chrNW_004936543:1,112,746...1,116,521 JBrowse link
G Foxo3 forkhead box O3 ISO protein:increased expression:lymphoblast,nucleus:
protein:increased expression:hippocampal neuron (mouse)
protein:altered expression:cortical neuron,nucleus:
mRNA:increased expression:brain:
RGD PMID:23153928 PMID:23585551 PMID:23661003 PMID:28157684 RGD:10402185 RGD:10402187 RGD:11061905 RGD:7327146 NCBI chrNW_004936564:4,788,036...4,907,600 JBrowse link
G Fxyd6 FXYD domain containing ion transport regulator 6 ISO RGD PMID:19760337 RGD:13801191 NCBI chrNW_004936542:2,974,968...3,005,778 JBrowse link
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 chrNW_004936679:388,500...588,518 JBrowse link
G Gabpa GA binding protein transcription factor subunit alpha ISO ClinVar Annotator: match by term: Alzheimer disease ClinVar PMID:16369530 PMID:16921174 PMID:24691562 PMID:25741868 NCBI chrNW_004936640:1,882,297...1,917,210 JBrowse link
G Gapdh glyceraldehyde-3-phosphate dehydrogenase susceptibility
onset
ISO DNA:SNP:5' utr:rs3741916 (human)
DNA:SNPs, haplotypes: :rs740850, rs1060620 (human)
protein:decreased activity:cerebral cortex, cerebellum
protein:increased S-glutathionylation, decreased activity:inferior parietal cortex
protein:decreased activity:cerebral cortex, hippocampus
DNA:snps:5' utr, intron: (rs3741916, rs1060621) (human)
RGD PMID:15507493 PMID:17324518 PMID:17387692 PMID:18340469 PMID:20864222 More... RGD:1358618 RGD:13792604 RGD:13792611 RGD:13792612 RGD:13792613 RGD:13792614 NCBI chrNW_004936709:1,243,149...1,247,782 JBrowse link
G Gapdhs glyceraldehyde-3-phosphate dehydrogenase, spermatogenic onset ISO DNA:snps:promoter, intron: (rs4806173, rs12984928) (human)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:15507493 PMID:17192785 RGD:1358618 NCBI chrNW_004936570:819,562...830,072 JBrowse link
G Gcg glucagon ISO RGD PMID:23035082 RGD:10402366 NCBI chrNW_004936469:16,906,658...16,916,045 JBrowse link
G Gdnf glial cell derived neurotrophic factor ISO mRNA, protein:alternate form, decreased expression:brain RGD PMID:22081608 RGD:5688777 NCBI chrNW_004936518:4,291,391...4,310,752 JBrowse link
G Ghrh growth hormone releasing hormone treatment ISO RGD PMID:23211425 RGD:10401233 NCBI chrNW_004936561:3,946,256...3,954,472 JBrowse link
G Glud1 glutamate dehydrogenase 1 ISO protein:increased expression, decreased oxidation:brain
protein:increased expression:brain
RGD PMID:16298240 PMID:16341942 RGD:6484555 RGD:6484556 NCBI chrNW_004936601:5,415,857...5,435,964 JBrowse link
G Glul glutamate-ammonia ligase ISO protein:increased oxidation:brain
protein:increased expression:cerebrospinal fluid:significant increase in active protein vs normal patients and controls with other neurological disorders
RGD PMID:1361232 PMID:12160938 RGD:2301427 RGD:2301429 NCBI chrNW_004936481:7,293,301...7,301,416 JBrowse link
G Grin1 glutamate ionotropic receptor NMDA type subunit 1 ISO RGD PMID:24156266 RGD:13792688 NCBI chrNW_004936669:814,330...838,881 JBrowse link
G Grin2a glutamate ionotropic receptor NMDA type subunit 2A ISO RGD PMID:24156266 RGD:13792688 NCBI chrNW_004936530:8,286,101...8,612,183 JBrowse link
G Grin2b glutamate ionotropic receptor NMDA type subunit 2B no_association ISO DNA:SNPs:promoter:-200T>G (rs1019385), -1447T>C, -1497G>A (rs12368476) (human)
DNA:SNPs:promoter, exon, 3' utr:-200T>G (rs1019385), 2664C>T (rs1806201), 5072G>T (rs890) (human)
DNA:SNP: :2664C>T (rs1806201) (human)
DNA:SNP:promoter:-421C>A (rs3764028) (human)
DNA:SNP, haplotype: :rs1806201 (human)
RGD PMID:18303265 PMID:18983893 PMID:24156266 PMID:24292895 RGD:13792688 RGD:13792709 RGD:13792713 RGD:13792714 NCBI chrNW_004936587:3,406,055...3,806,956 JBrowse link
G Grk5 G protein-coupled receptor kinase 5 ISO DNA: deletion: exons 7,8: heterozygote RGD PMID:18522748 RGD:5688375 NCBI chrNW_004936486:8,720,036...8,830,472 JBrowse link
G Grn granulin precursor severity
onset
ISO mRNA, protein:increased expression:microglia, neuron:
ClinVar Annotator: match by term: Alzheimer disease
DNA:deletion:exon:c.154delA(human)
RGD
ClinVar
PMID:16199547 PMID:16862116 PMID:16950801 PMID:19557827 PMID:20142525 More... RGD:5509601 RGD:5509606 NCBI chrNW_004936541:793,548...800,271 JBrowse link
G Gsk3a glycogen synthase kinase 3 alpha treatment ISO RGD PMID:18410522 PMID:22623685 RGD:10401797 RGD:10401801 NCBI chrNW_004936706:266,462...277,256 JBrowse link
G Gsk3b glycogen synthase kinase 3 beta treatment ISO protein:decreased phosphorylation:hippocampus:
CTD Direct Evidence: marker/mechanism
DNA:altered methylation:CpG island:
DNA:SNP:promoter:rs334558 (human)
RGD
CTD
PMID:11226152 PMID:17409235 PMID:19154537 PMID:22048123 PMID:22623685 More... RGD:10045668 RGD:10045669 RGD:10045670 RGD:10401801 RGD:1302533 RGD:13782364 RGD:13792736 RGD:13792777 NCBI chrNW_004936536:6,730,070...6,893,818 JBrowse link
G Gsr glutathione-disulfide reductase treatment ISO protein:decreased expression:blood
mRNA:increased expression:hippocampus
RGD PMID:10096042 PMID:17721818 PMID:19374888 PMID:21376020 RGD:10401827 RGD:10401847 RGD:10401849 RGD:10401857 NCBI chrNW_004936792:531,076...579,083 JBrowse link
G Gss glutathione synthetase ISO RGD PMID:15693022 RGD:5508441 NCBI chrNW_004936561:5,765,637...5,793,951 JBrowse link
G Gstm3 glutathione S-transferase mu 3 ISO DNA:SNP:cds: rs7483 (human) RGD PMID:15621212 PMID:18423940 RGD:5688729 RGD:5688745 NCBI chrNW_004936704:1,233,909...1,236,864 JBrowse link
G Gsto1 glutathione S-transferase omega 1 susceptibility
no_association
onset
ISO DNA:polymorphism:exon:p. A140D (rs4925) (human) RGD PMID:14570706 PMID:15917099 PMID:20818931 RGD:1358651 RGD:5490514 RGD:5490521 NCBI chrNW_004936600:1,932,152...1,943,342 JBrowse link
G Gsto2 glutathione S-transferase omega 2 no_association
onset
ISO DNA:polymorphism:promoter: -183 A>G (rs2297235)(human)
DDNA:polymorphism: : -183 A>G (rs2297235)(human)
RGD PMID:14570706 PMID:15917099 RGD:1358651 RGD:5490514 NCBI chrNW_004936600:1,907,396...1,925,256 JBrowse link
G Gstp1 glutathione S-transferase pi 1 onset
susceptibility
ISO DNA:polymorphisms
DNA:polymorphism:exon:
mRNA:decreased expression:cerebral cortex
RGD PMID:15805147 PMID:17911365 PMID:23211594 PMID:24584466 RGD:10401912 RGD:10401913 RGD:5490123 RGD:5490271 NCBI chrNW_004936599:2,197,681...2,200,642 JBrowse link
G Gucy1b1 guanylate cyclase 1 soluble subunit beta 1 ISO RGD PMID:15571982 RGD:10401946 NCBI chrNW_004936576:2,427,451...2,469,946 JBrowse link
G Hadha hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha ISO protein:decreased expression:brain RGD PMID:25260493 RGD:10047114 NCBI chrNW_004936493:6,182,786...6,224,601 JBrowse link
G Hadhb hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta ISO protein:decreased_expression:vascular smooth muscle cells:little or no expression in VSMCs in arteries with amyloid deposits RGD PMID:11430884 RGD:1600786 NCBI chrNW_004936493:6,139,717...6,182,792 JBrowse link
G Hdac2 histone deacetylase 2 ISO protein:increased expression:hippocampus: RGD PMID:22388814 RGD:9590324 NCBI chrNW_004936679:2,448,676...2,474,641 JBrowse link
G Hfe homeostatic iron regulator ISO ClinVar Annotator: match by term: Alzheimer disease | ClinVar Annotator: match by term: Alzheimer's disease ClinVar PMID:678784 PMID:8696333 PMID:8896549 PMID:8896550 PMID:8931958 More... NCBI chrNW_004936671:1,940,079...1,947,574 JBrowse link
G Hif1a hypoxia inducible factor 1 subunit alpha ISO protein:increased expression:brain, microvessel (mouse)
mRNA, protein:increased expression:cerebral cortex, microvessel (human)
RGD PMID:16627934 PMID:21904637 RGD:9068875 RGD:9068888 NCBI chrNW_004936495:5,770,988...5,816,157 JBrowse link
G Hmgb1 high mobility group box 1 ISO RGD PMID:23905994 RGD:10402058 NCBI chrNW_004936472:25,236,728...25,246,585 JBrowse link
G Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase ISO RGD PMID:17724290 RGD:5508460 NCBI chrNW_004936549:1,378,536...1,400,501 JBrowse link
G Hmox1 heme oxygenase 1 ISO protein:increased expression:hippocampus, temporal cortex (human)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:7778849 PMID:11144356 RGD:1358658 NCBI chrNW_004936492:5,042,353...5,049,216 JBrowse link
G Hnrnpa1 heterogeneous nuclear ribonucleoprotein A1 ISO protein:decreased expression:entorhinal cortex (human) RGD PMID:22628224 RGD:9999191 NCBI chrNW_004936512:11,481,017...11,487,737 JBrowse link
G Hnrnpa2b1 heterogeneous nuclear ribonucleoprotein A2/B1 ISO protein:decreased expression:entorhinal cortex (human) RGD PMID:22628224 RGD:9999191 NCBI chrNW_004936478:2,970,261...2,980,277 JBrowse link
G Hras HRas proto-oncogene, GTPase ISO protein:increased expression:brain, neuron (human) RGD PMID:10661494 RGD:10412306 NCBI chrNW_004936888:375,372...378,125 JBrowse link
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:13792781 RGD:632866 NCBI chrNW_004936751:399,743...402,200 JBrowse link
G Hsd17b3 hydroxysteroid 17-beta dehydrogenase 3 ISO mRNA:altered expression:cerebellum, hippocampus (human) RGD PMID:18180323 RGD:4889108 NCBI chrNW_004936487:228,301...282,495 JBrowse link
G Hsf1 heat shock transcription factor 1 ISO protein:altered localization:promoter (mouse)
protein:decreased expression:cerebellum (rat)
RGD PMID:23665061 PMID:24849358 RGD:10402385 RGD:10402771 NCBI chrNW_004936470:7,927,734...7,950,805 JBrowse link
G Hsp90aa1 heat shock protein 90 alpha family class A member 1 ISO protein:decreased expression:serum (human) RGD PMID:23948885 RGD:10413860 NCBI chrNW_004936835:316,767...321,999 JBrowse link
G Hspa13 heat shock protein family A (Hsp70) member 13 ISO ClinVar Annotator: match by term: Alzheimer disease ClinVar PMID:16369530 PMID:16921174 PMID:24691562 NCBI chrNW_004936505:7,395,962...7,406,662 JBrowse link
G Hspa9 heat shock protein family A (Hsp70) member 9 ISO RGD PMID:17050040 RGD:10402560 NCBI chrNW_004936531:7,702,186...7,716,428 JBrowse link
G Hspb1 heat shock protein family B (small) member 1 ISO mRNA,protein:increased expression:brainstem, astrocyte: RGD PMID:25772164 RGD:10402580 NCBI chrNW_004936543:2,110,351...2,111,896 JBrowse link
G Hspd1 heat shock protein family D (Hsp60) member 1 ISO protein:increased modification:brain
protein:increased expression:cytosol, mitochondrion:
protein:increased expression:mitochondrion:
RGD PMID:15802185 PMID:22753410 RGD:10402831 RGD:1624243 NCBI chrNW_004936506:1,678,069...1,687,632 JBrowse link
G Htr1a 5-hydroxytryptamine receptor 1A ISO RGD PMID:20508993 RGD:5683632 NCBI chrNW_004936480:5,042,531...5,047,157 JBrowse link
G Htr6 5-hydroxytryptamine receptor 6 susceptibility ISO DNA:silent mutation:cds: 267C>T (human) RGD PMID:10624811 RGD:1358662 NCBI chrNW_004936474:5,848,719...5,858,520 JBrowse link
G Htra2 HtrA serine peptidase 2 ISO protein:increased activity:frontal cortex (human) RGD PMID:21163861 RGD:5688722 NCBI chrNW_004936556:741,718...746,016 JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO DNA:missense mutation:cds:p.K469E (human) RGD PMID:12498973 RGD:1358664 NCBI chrNW_004936659:616,570...627,172 JBrowse link
G Ide insulin degrading enzyme treatment ISO associated with Insulin Resistance
CTD Direct Evidence: marker/mechanism
protein:decreased expression:cerebrospinal fluid
RGD
CTD
PMID:12634421 PMID:17192785 PMID:26963025 PMID:28157092 PMID:28164769 More... RGD:13792790 RGD:13792792 RGD:13792793 RGD:13792798 RGD:13792800 RGD:13792824 RGD:13792829 RGD:737718 NCBI chrNW_004936601:2,230,477...2,318,562 JBrowse link
G Igf1 insulin like growth factor 1 onset
treatment
susceptibility
ISO protein:decreased expression:hippocampus:
protein:altered expression:plasma,cerebral spinal fluid:
DNA:polymorphism:intron: rs972936(human)
protein:increased expression:serum:
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:10399774 PMID:15750215 PMID:23089282 PMID:23740209 PMID:24054991 More... RGD:10045852 RGD:10045853 RGD:10045854 RGD:10045860 RGD:10402576 NCBI chrNW_004936492:11,709,623...11,784,028 JBrowse link
G Igf1r insulin like growth factor 1 receptor severity
treatment
ISO protein:increased expression: cerebral cortex:
protein:increased expression:temporal cortex:
DNA: haploinsufficiency:: full knockout dies at birth
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:15750215 PMID:16274856 PMID:18479783 PMID:19487308 PMID:20409077 More... RGD:10045878 RGD:10045879 RGD:10045894 RGD:12904921 RGD:5686420 NCBI chrNW_004936483:4,563,995...4,860,231 JBrowse link
G Igf2 insulin like growth factor 2 treatment ISO CTD Direct Evidence: marker/mechanism
mRNA:decreased expression:brain
CTD
RGD
PMID:15750215 PMID:16627931 PMID:21040071 PMID:24685003 PMID:24887203 RGD:10045934 RGD:10402558 RGD:10402559 RGD:5509963 NCBI chrNW_004936816:972,902...981,232 JBrowse link
G Igf2r insulin like growth factor 2 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:15750215 NCBI chrNW_004936489:11,447,043...11,523,695 JBrowse link
G Igfbp2 insulin like growth factor binding protein 2 ISO protein:decreased expression:temporal cortex: RGD PMID:18479783 RGD:10045894 NCBI chrNW_004936586:671,760...696,783 JBrowse link
G Igfbp3 insulin like growth factor binding protein 3 treatment ISO mRNA:decreased expression:hippocampus
protein:increased expression:serum
RGD PMID:10399774 PMID:23473966 PMID:24964199 RGD:10402570 RGD:10402572 RGD:10402576 NCBI chrNW_004936478:20,511,490...20,518,251 JBrowse link
G Ikbkb inhibitor of nuclear factor kappa B kinase subunit beta treatment ISO protein:increased expression:hippocampus: RGD PMID:24380241 RGD:10045941 NCBI chrNW_004936785:358,128...406,751 JBrowse link
G Il10 interleukin 10 treatment
susceptibility
ISO DNA:SNPs,haplotype: -1082G>A, -819T>C, -592C>A (human) RGD PMID:14746878 PMID:21803105 RGD:1358665 RGD:7364841 NCBI chrNW_004936557:5,834,874...5,838,502 JBrowse link
G Il1a interleukin 1 alpha susceptibility
disease_progression
no_association
ISO DNA:SNP:5'UTR:rs1800587(human)
protein:increased expression:microglial cell, cortical layer:
RGD PMID:9775393 PMID:10716257 PMID:11402127 PMID:19158434 RGD:10045945 RGD:10045947 RGD:10046059 RGD:1358667 NCBI chrNW_004936783:1,210,715...1,218,315 JBrowse link
G Il1b interleukin 1 beta onset
treatment
no_association
ISO protein:increased expression:plasma
DNA:SNP: :rs1143634 (human)
DNA:SNP:promoter:-31T>C (human)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:16600299 PMID:18675847 PMID:18830724 PMID:20413850 PMID:22963993 More... RGD:11522340 RGD:13792816 RGD:13792817 RGD:13792818 RGD:13792819 RGD:13792820 RGD:13793381 RGD:1626633 RGD:7204700 NCBI chrNW_004936783:1,251,678...1,256,807 JBrowse link
G Il2 interleukin 2 severity ISO protein:increased secretion:mononuclear cell: RGD PMID:8586980 PMID:8915041 RGD:10047080 RGD:10047081 NCBI chrNW_004936662:1,594,953...1,599,625 JBrowse link
G Il3 interleukin 3 ISO protein:decreased expression:plasma RGD PMID:17934472 PMID:18769539 RGD:5686815 RGD:5686817 NCBI chrNW_004936647:3,102,922...3,104,758 JBrowse link
G Il6 interleukin 6 treatment ISO RGD PMID:27088818 RGD:11062148 NCBI chrNW_004936549:7,015,595...7,016,246 JBrowse link
G Il6r interleukin 6 receptor no_association ISO DNA:SNPs:promoter:-208G>A (rs4845617) (human)
DNA:SNPs:promoter, exon:-530G>T, 48867A/>C (p.D358A, rs8192284) (human)
protein:increased expression:cerebrospinal fluid, plasma
RGD PMID:12664314 PMID:20197062 RGD:10402808 RGD:10402810 NCBI chrNW_004936580:4,055,438...4,081,876 JBrowse link
G Il6st interleukin 6 cytokine family signal transducer ISO protein:decreased expression:cerebrospinal fluid RGD PMID:10095017 RGD:10402847 NCBI chrNW_004936480:11,867,573...11,913,563 JBrowse link
G Il7 interleukin 7 ISO RGD PMID:22571981 RGD:10402933 NCBI chrNW_004936702:110,625...162,957 JBrowse link
G Inpp5d inositol polyphosphate-5-phosphatase D ISO CTD Direct Evidence: marker/mechanism CTD PMID:30320580 NCBI chrNW_004936525:4,046,609...4,154,715 JBrowse link
G Ins insulin ISO mRNA:decreased expression:cerebral cortex
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:9443474 PMID:15750215 PMID:17448147 RGD:2298713 NCBI chrNW_004936816:1,002,137...1,003,357 JBrowse link
G Insr insulin receptor treatment ISO CTD Direct Evidence: marker/mechanism
mRNA:decreased expression:brain
protein:altered localization:brain, neuron
RGD
CTD
PMID:16627931 PMID:18479783 PMID:23011726 PMID:24055495 RGD:10045894 RGD:10403036 RGD:5509963 NCBI chrNW_004936588:4,345,306...4,453,380 JBrowse link
G Iqck IQ motif containing K ISO CTD Direct Evidence: marker/mechanism CTD PMID:30820047 NCBI chrNW_004936501:5,342,269...5,465,804 JBrowse link
G Ireb2 iron responsive element binding protein 2 ISO DNA:SNPs: :rs2656070, rs13180(human) RGD PMID:16914832 RGD:6893299 NCBI chrNW_004936471:36,547,552...36,601,327 JBrowse link
G Irs1 insulin receptor substrate 1 severity
treatment
ISO DNA:SNP:cds:rs1801278(human)
protein:increased expression, increased serine phosphorylation, increased tyrosine phosphorylation:hippocampus CA1
protein:decreased expression:hippocampus:
protein:increased serine phosphorylation:hippocampus
protein:altered expression:temporal cortex:
RGD PMID:18479783 PMID:22476196 PMID:22476197 PMID:22527777 PMID:23011726 More... RGD:10045894 RGD:10045932 RGD:10045935 RGD:10045939 RGD:10403036 RGD:6482860 RGD:6482861 NCBI chrNW_004936525:9,064,442...9,125,972 JBrowse link
G Irs2 insulin receptor substrate 2 severity ISO protein:decreased expression:temporal cortex:
mRNA:decreased expression:hippocampus:
RGD PMID:18479783 PMID:19487308 PMID:24887203 RGD:10045878 RGD:10045894 RGD:10045934 NCBI chrNW_004936472:2,772,187...2,796,398 JBrowse link
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 chrNW_004936577:3,896,455...4,198,396 JBrowse link
G Jak2 Janus kinase 2 treatment ISO RGD PMID:18813209 RGD:10403051 NCBI chrNW_004936503:111,722...243,627 JBrowse link
G Jam2 junctional adhesion molecule 2 ISO ClinVar Annotator: match by term: Alzheimer disease ClinVar PMID:16369530 PMID:16921174 PMID:24691562 PMID:25741868 NCBI chrNW_004936640:1,930,450...1,984,438 JBrowse link
G Kcnc1 potassium voltage-gated channel subfamily C member 1 ISO mRNA, protein:decreased expression:neocortex (mouse) RGD PMID:21912965 RGD:9686062 NCBI chrNW_004936528:1,351,687...1,393,926 JBrowse link
G Kcnc4 potassium voltage-gated channel subfamily C member 4 ISO mRNA:decreased expression:neocortex (mouse)
mRNA, protein:increased expression: frontal cortex
RGD PMID:15485486 PMID:21912965 RGD:10411900 RGD:9686062 NCBI chrNW_004936704:1,667,387...1,689,337 JBrowse link
G Kcnma1 potassium calcium-activated channel subfamily M alpha 1 onset ISO DNA:SNP: :rs16934131 (human) RGD PMID:21480501 RGD:10412025 NCBI chrNW_004936521:2,000,113...2,706,010 JBrowse link
G Kl klotho treatment ISO mRNA,protein:decreased expression:cerebral choroid,serum: RGD PMID:23973442 RGD:10403049 NCBI chrNW_004936472:27,604,681...27,649,613 JBrowse link
G Klc1 kinesin light chain 1 susceptibility ISO DNA:SNP:intron:56836G>C (human)
DNA:SNPs: :rs8007903, rs3212079 (human)
RGD PMID:15364413 PMID:19911314 RGD:5683908 RGD:5684007 NCBI chrNW_004936621:1,471,574...1,505,119 JBrowse link
G Klk6 kallikrein related peptidase 6 ISO RGD PMID:12074831 PMID:12480753 RGD:1358599 RGD:1358604 NCBI chrNW_004936889:621,645...628,454 JBrowse link
G Klrg1 killer cell lectin like receptor G1 ISO ClinVar Annotator: match by term: ALPHA-2-MACROGLOBULIN POLYMORPHISM ClinVar PMID:1370808 PMID:1717945 PMID:9697696 PMID:9811940 PMID:15023809 More... NCBI chrNW_004936870:339,526...352,807 JBrowse link
G L1cam L1 cell adhesion molecule ISO protein:increased expression:cerebrospinal fluid (human) RGD PMID:16298234 RGD:6483456 NCBI chrNW_004936809:736,385...768,822 JBrowse link
G Ldlr low density lipoprotein receptor no_association ISO DNA:SNPs: :rs5925, rs2738444, rs11669576 (human)
DNA:SNPs:exon:rs5925, rs5927, rs5930 (human)
DNA:SNPs:exon (human)
DNA:SNPs:exon:rs5925, rs5930, rs11669576 (human)
RGD PMID:15585340 PMID:15689450 PMID:16378661 PMID:16741934 PMID:17239995 More... RGD:5490231 RGD:5490239 RGD:5490241 RGD:5490242 RGD:5490243 RGD:5490244 NCBI chrNW_004936659:1,259,405...1,300,545 JBrowse link
G Lipc lipase C, hepatic type no_association ISO DNA:SNPs: :rs6084 (human)
DNA:SNPs: :rs6074, rs6083, rs6084 (human)
RGD PMID:17175070 RGD:1600644 NCBI chrNW_004936471:19,604,083...19,733,721 JBrowse link
G Lipi lipase I ISO ClinVar Annotator: match by term: Alzheimer disease ClinVar PMID:16369530 PMID:16921174 PMID:24691562 NCBI chrNW_004936505:7,185,885...7,226,653 JBrowse link
G LOC101954950 aromatase ISO mRNA:altered expression:cerebellum, hippocampus (human)
DNA:polymorphism
RGD PMID:16882736 PMID:18180323 RGD:1600861 RGD:4889108 NCBI chrNW_004936471:13,107,603...13,136,910 JBrowse link
G LOC101955831 heat shock 70 kDa protein 1 disease_progression ISO DNA:polymorphism: : RGD PMID:12967056 RGD:10402401 NCBI chrNW_004936727:1,718,952...1,721,691 JBrowse link
G LOC101955839 Grid2 interacting protein ISO ClinVar Annotator: match by term: Alzheimer disease, early onset ClinVar PMID:25741868 NCBI chrNW_004936765:46,647...74,056 JBrowse link
G LOC101956126 heat shock 70 kDa protein 1 ISO DNA:polymorphism: :-110A>C(human) RGD PMID:15832029 RGD:10402403 NCBI chrNW_004936727:1,732,323...1,735,128 JBrowse link
G LOC101956274 cytochrome b-c1 complex subunit 1, mitochondrial ISO DNA:hypermethylation:promoter:
protein:decreased expression:temporal cortex
RGD PMID:11130185 PMID:26943237 RGD:11572212 RGD:13831335 NCBI chrNW_004936529:385,942...396,196 JBrowse link
G LOC101957668 CREB binding protein treatment ISO protein:increased phosphorylation:hippocampus: RGD PMID:17760871 PMID:21149712 RGD:10059608 RGD:10059609 NCBI chrNW_004936694:552,447...663,237 JBrowse link
G LOC101959175 amyloid beta precursor protein susceptibility
treatment
ISO ClinVar Annotator: match by term: Alzheimer disease | ClinVar Annotator: match by term: Alzheimer disease, early onset | ClinVar Annotator: match by term: Alzheimer disease, protection against | ClinVar Annotator: match by term: Alzheimer's disease | ClinVar Annotator: match by term: Early-Onset Familial Alzheimer Disease
associated with hypertension
RGD
ClinVar
PMID:1303239 PMID:1303275 PMID:1307241 PMID:1415269 PMID:1520398 More... RGD:13782047 RGD:1599199 NCBI chrNW_004936640:1,549,977...1,787,436 JBrowse link
G LOC101959212 alpha-2-macroglobulin no_association
onset
ISO DNA:polymorphisms: :multiple
ClinVar Annotator: match by term: ALPHA-2-MACROGLOBULIN POLYMORPHISM
DNA:polymorphism: :p.I1000V (human)
RGD
ClinVar
PMID:1370808 PMID:1717945 PMID:9697696 PMID:9811940 PMID:10319853 More... RGD:10046014 RGD:10046015 RGD:10046016 RGD:1300322 NCBI chrNW_004936870:424,832...468,303 JBrowse link
G LOC101959784 prion protein ISO ClinVar Annotator: match by term: Alzheimer disease, early-onset, susceptibility to ClinVar PMID:1353341 PMID:1677164 PMID:1682813 PMID:1684089 PMID:1971924 More... NCBI chrNW_004936485:14,104,829...14,118,614 JBrowse link
G LOC101961000 cytochrome c oxidase subunit 7C, mitochondrial ISO RGD PMID:28474567 RGD:13792588 NCBI chrNW_004936469:5,337,331...5,339,716 JBrowse link
G LOC101961079 cholesterol 24-hydroxylase ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:12232784 PMID:19286353 RGD:1358575 NCBI chrNW_004936604:3,451,853...3,490,688 JBrowse link
G LOC101961532 activity dependent neuroprotector homeobox ISO RGD PMID:17720885 PMID:18199809 RGD:2312791 RGD:2312792 NCBI chrNW_004936514:3,855,113...3,883,036 JBrowse link
G LOC101961588 cytochrome P450 2D17 ISO CTD Direct Evidence: marker/mechanism CTD PMID:7574463 NCBI chrNW_004936718:153,340...157,966 JBrowse link
G LOC101962838 2',3'-cyclic nucleotide 3' phosphodiesterase ISO RGD PMID:21918687 RGD:6483333 NCBI chrNW_004936490:16,834,570...16,841,734 JBrowse link
G LOC101964209 C-C chemokine receptor type 1 severity ISO RGD PMID:14595653 RGD:5688166 NCBI chrNW_004936596:177,774...183,186 JBrowse link
G LOC101964865 complement receptor type 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19734903 PMID:21460841 NCBI chrNW_004936557:5,185,831...5,284,999 JBrowse link
G LOC101968921 angiotensin-converting enzyme ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:9916793 PMID:10643899 PMID:14872014 PMID:17192785 PMID:19080340 More... RGD:2325232 NCBI chrNW_004936541:4,157,847...4,178,156 JBrowse link
G LOC101968976 leptin treatment ISO associated with Obesity
compared to cortisol;protein:altered expression:plasma (human)
CTD Direct Evidence: therapeutic
RGD
CTD
PMID:9755363 PMID:20157255 PMID:25296496 RGD:10053617 RGD:10053632 NCBI chrNW_004936479:15,394,966...15,411,334 JBrowse link
G LOC101969432 CD2 associated protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:21460840 PMID:21460841 PMID:30320580 NCBI chrNW_004936476:12,890,595...12,989,046 JBrowse link
G LOC101969640 C-reactive protein ISO RGD PMID:22202667 RGD:6904208 NCBI chrNW_004936740:885,855...888,854 JBrowse link
G LOC101970607 selectin P severity ISO protein:decreased expression:plasma RGD PMID:21484243 RGD:5685677 NCBI chrNW_004936481:17,076,660...17,112,501 JBrowse link
G LOC101970831 serotransferrin ISO ClinVar Annotator: match by term: Transferrin variant c1/c2 ClinVar PMID:9272172 PMID:15060098 PMID:20029940 PMID:28492532 NCBI chrNW_004936529:6,917,762...6,947,512 JBrowse link
G LOC101971027 neuroendocrine secretory protein 55 ISO RGD PMID:8012802 RGD:10401266 NCBI chrNW_004936530:1,353,432...1,407,437 JBrowse link
G LOC101972576 valosin containing protein ISO ClinVar Annotator: match by term: Alzheimer disease ClinVar PMID:30279455 NCBI chrNW_004936524:3,085,959...3,102,461 JBrowse link
G LOC101973421 amine oxidase copper containing 3 severity ISO protein:increased expression:plasma RGD PMID:17393059 RGD:2313919 NCBI chrNW_004936490:17,549,836...17,564,867 JBrowse link
G LOC101973510 TATA-box binding protein ISO protein:increased expression:hippocampus, entorhinal cortex (human) RGD PMID:15193429 RGD:5684338 NCBI chrNW_004937098:46,572...65,304 JBrowse link
G LOC101974041 aflatoxin B1 aldehyde reductase member 2 ISO protein:increased expression:superior, middle temporal gyrus; RGD PMID:11597610 RGD:14349051 NCBI chrNW_004936474:5,565,715...5,573,048 JBrowse link
G LOC101975550 synaptophysin ISO denntate gyrus, hippocampus, entorhinal cortex
mRNA,protein:decreased expression:hippocampus, temporal cortex
protein:decreased expression:dentate gyrus molecular layer,hippocampus,entorhinal, tempocampal corteces:
RGD PMID:20847448 RGD:13506238 NCBI chrNW_004936721:1,062,206...1,075,935 JBrowse link
G LOC101975729 TAR DNA binding protein ISO protein:increased expression:brain
protein:increased expression, phosphorylation:motor cortex
RGD PMID:21070634 PMID:21376022 RGD:5687139 RGD:5687178 NCBI chrNW_004936474:90,813...103,713 JBrowse link
G LOC120889510 insulin ISO mRNA:decreased expression:hippocampus RGD PMID:17448147 RGD:2298713
G Lpl lipoprotein lipase severity
no_association
ISO DNA, mRNA:SNP, decreased expression: :rs285 (human)
DNA:SNPs: :multiple
DNA:polymorphism:intron
DNA:point mutations: :p.N291S, p.S447X (human)
DNA:SNPs: :rs268, rs328 (human)
RGD PMID:10206232 PMID:12133567 PMID:15331147 PMID:16013913 PMID:16965549 More... RGD:13793392 RGD:13793393 RGD:13793395 RGD:13793396 RGD:13793397 RGD:13799353 RGD:5685661 NCBI chrNW_004936555:4,084,099...4,108,219 JBrowse link
G Lrp1 LDL receptor related protein 1 treatment ISO DNA:SNP:exon 3:C>T (human) RGD PMID:9635959 PMID:19150622 PMID:29115637 RGD:1358747 RGD:13799352 RGD:13800553 NCBI chrNW_004936646:1,326,900...1,407,236 JBrowse link
G Lrp1b LDL receptor related protein 1B onset ISO mRNA:increased expression:hippocampus (mouse) RGD PMID:23150673 RGD:151665140 NCBI chrNW_004936469:35,000,773...36,160,216 JBrowse link
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 chrNW_004936522:7,740,887...7,820,488 JBrowse link
G Lrpap1 LDL receptor related protein associated protein 1 onset ISO DNA:deletion:intron RGD PMID:11425005 RGD:1358749 NCBI chrNW_004936477:20,234,582...20,250,756 JBrowse link
G Maoa monoamine oxidase A ISO RGD PMID:1627256 RGD:10046060 NCBI chrNW_004936502:9,816,443...9,888,002 JBrowse link
G Maob monoamine oxidase B ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:1627256 PMID:7816197 PMID:21075085 RGD:10046060 NCBI chrNW_004936502:9,907,181...10,014,756 JBrowse link
G Map2 microtubule associated protein 2 ISO RGD PMID:22083255 RGD:6483322 NCBI chrNW_004936845:475,406...752,600 JBrowse link
G Mapk1 mitogen-activated protein kinase 1 onset
treatment
ISO mRNA:increased expression: CA2 field of hippocampus, pyramidal neuron RGD PMID:24334724 PMID:28079060 RGD:13800563 RGD:13800868 NCBI chrNW_004936619:1,889,841...1,932,646 JBrowse link
G Mapk10 mitogen-activated protein kinase 10 ISO protein:increased expression:CA1 field of hippocampus: RGD PMID:11208906 RGD:10412676 NCBI chrNW_004936896:228,908...539,836 JBrowse link
G Mapk14 mitogen-activated protein kinase 14 treatment ISO mRNA:increased expression:frontal lobe cortex, hippocampus CA2 (rat) RGD PMID:17784957 PMID:20529587 RGD:10047076 RGD:10047104 NCBI chrNW_004936476:23,237,762...23,310,211 JBrowse link
G Mapk3 mitogen-activated protein kinase 3 treatment ISO RGD PMID:28079060 RGD:13800563 NCBI chrNW_004936501:12,342,670...12,390,650 JBrowse link
G Mapk8 mitogen-activated protein kinase 8 disease_progression ISO protein:increased expression:brain,CA1 field of hippocampus: RGD PMID:11208906 RGD:10412676 NCBI chrNW_004936728:1,775,746...1,893,895 JBrowse link
G Mapk9 mitogen-activated protein kinase 9 ISO protein:increased expression:brain,CA1 field of hippocampus: RGD PMID:11208906 RGD:10412676 NCBI chrNW_004936739:551,678...602,027 JBrowse link
G Mapt microtubule associated protein tau onset
treatment
no_association
ISO DNA:SNP, haplotypes:promoter:rs242557 (human)
ClinVar Annotator: match by term: Alzheimer disease
DNA:mutation:cds:p.R406W(human)
DNA:SNPs, haplotypes:promoter:rs242557 (human)
RGD
ClinVar
PMID:18587238 PMID:19252918 PMID:19308965 PMID:23116876 PMID:27060945 More... RGD:10412701 RGD:10412704 RGD:13800904 RGD:13800908 RGD:8158097 RGD:8158105 NCBI chrNW_004936541:2,381,411...2,479,984 JBrowse link
G Mcm2 minichromosome maintenance complex component 2 ISO RGD PMID:17070803 PMID:19946466 RGD:10412048 RGD:10412050 NCBI chrNW_004936798:756,350...768,600 JBrowse link
G Mdm4 MDM4 regulator of p53 disease_progression ISO RGD PMID:23861893 RGD:10047419 NCBI chrNW_004936567:268,151...299,494 JBrowse link
G Mfn1 mitofusin 1 ISO protein:decreased expression:hippocampus (human) RGD PMID:19605646 RGD:7800727 NCBI chrNW_004936566:3,737,315...3,775,894 JBrowse link
G Mfn2 mitofusin 2 ISO protein:decreased expression:hippocampus (human)
protein:increased expression:hippocampus (rat)
RGD PMID:19605646 PMID:28302704 RGD:12910737 RGD:7800727 NCBI chrNW_004936474:767,754...795,258 JBrowse link
G Mme membrane metalloendopeptidase treatment
no_association
onset
severity
ISO associated with Endotoxemia
DNA:repeats
DNA:SNP:3' utr:rs6665 (human)
DNA:SNPs: :multiple
DNA:SNPs, repeat:multiple:multiple
DNA:SNP: :rs6797911 (human)
DNA:SNPs:5' utr, 3' utr:rs3736187, rs989692, rs701109 (human)
DNA:SNPs, haplotypes:promoter, introns:-204G>C, IVS17-294C>T, IVS22+36C>A (human)
DNA:SNPs:introns:rs1836915, rs6776185, rs6801319 (human)
DNA:SNPs, repeats, deletion:promoter:multiple
RGD PMID:11849775 PMID:12074840 PMID:12527400 PMID:15860464 PMID:17928142 More... RGD:13801009 RGD:13801010 RGD:13801011 RGD:13801012 RGD:13801019 RGD:13801020 RGD:13801021 RGD:13801022 RGD:13801023 RGD:13801024 RGD:13801033 RGD:13801034 RGD:1600813 NCBI chrNW_004936519:2,513,896...2,595,896 JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO protein:decreased expression:platelet RGD PMID:21875409 RGD:10059680 NCBI chrNW_004936475:7,801,356...7,825,831 JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:plasma (human) RGD PMID:17697439 RGD:7207052 NCBI chrNW_004936514:7,038,240...7,045,873 JBrowse link
G Mpo myeloperoxidase ISO ClinVar Annotator: match by term: Alzheimer disease | ClinVar Annotator: match by term: Alzheimer disease, susceptibility to ClinVar PMID:6260268 PMID:9766845 PMID:11087769 PMID:12915675 PMID:15023809 More... NCBI chrNW_004936490:4,809,773...4,819,070 JBrowse link
G Mre11 MRE11 homolog, double strand break repair nuclease ISO protein:decreased expression:cerebral cortex (human) RGD PMID:15337312 RGD:2317734 NCBI chrNW_004936674:466,495...528,072 JBrowse link
G Mrpl39 mitochondrial ribosomal protein L39 ISO ClinVar Annotator: match by term: Alzheimer disease ClinVar PMID:16369530 PMID:16921174 PMID:24691562 PMID:25741868 NCBI chrNW_004936640:2,015,978...2,033,423 JBrowse link
G Ms4a4a membrane spanning 4-domains A4A ISO CTD Direct Evidence: marker/mechanism CTD PMID:21460841 NCBI chrNW_004936581:2,550,229...2,572,638 JBrowse link
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:6480534 RGD:6480619 RGD:9685805 NCBI chrNW_004936475:8,864,512...8,866,516 JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17192785 NCBI chrNW_004936474:623,438...637,849 JBrowse link
G Nae1 NEDD8 activating enzyme E1 subunit 1 ISO RGD PMID:14557245 RGD:2302388 NCBI chrNW_004936475:17,083,175...17,105,098 JBrowse link
G Napb NSF attachment protein beta ISO protein:decreased expression:temporal cortex RGD PMID:11244216 RGD:10412652 NCBI chrNW_004936620:2,158,246...2,205,624 JBrowse link
G Nbn nibrin ISO RGD PMID:15337312 RGD:2317734 NCBI chrNW_004936544:3,773,828...3,812,673 JBrowse link
G Ncam1 neural cell adhesion molecule 1 ISO RGD PMID:31028587 RGD:40925918 NCBI chrNW_004936612:1,262,557...1,556,281 JBrowse link
G Ncam2 neural cell adhesion molecule 2 ISO ClinVar Annotator: match by term: Alzheimer disease ClinVar PMID:16369530 PMID:16921174 PMID:24691562 NCBI chrNW_004936822:1,033,660...1,189,131 JBrowse link
G Ncf2 neutrophil cytosolic factor 2 ISO protein:altered localization RGD PMID:10873554 RGD:2314452 NCBI chrNW_004936481:6,300,894...6,325,878 JBrowse link
G Nck2 NCK adaptor protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:33589840 NCBI chrNW_004936764:141,159...185,482 JBrowse link
G Ncstn nicastrin no_association
onset
ISO DNA:missense mutation: :417N>Y (human)
protein:increased modification:brain
DNA:SNPs, haplotype:introns:multiple
DNA:SNP:promoter:-436C>T (human)
DNA:SNPs:promoter:-796T>G, -1216C>A (human)
CTD Direct Evidence: marker/mechanism
DNA:missense mutation, SNPs:exon, intron, 3' utr:multiple
DNA:SNP:promoter:-922G>T (rs10752637) (human)
RGD
CTD
PMID:11992262 PMID:14642438 PMID:15157994 PMID:17192785 PMID:19394408 More... RGD:13801048 RGD:13801049 RGD:13801050 RGD:13801051 RGD:13801052 RGD:13801187 RGD:13801188 NCBI chrNW_004936740:285,789...301,918 JBrowse link
G Ndufa2 NADH:ubiquinone oxidoreductase subunit A2 ISO RGD PMID:28474567 RGD:13792588 NCBI chrNW_004936531:9,587,139...9,589,007 JBrowse link
G Ndufa5 NADH:ubiquinone oxidoreductase subunit A5 ISO RGD PMID:19760337 RGD:13801191 NCBI chrNW_004936605:1,915,246...1,928,853 JBrowse link
G Ndufa6 NADH:ubiquinone oxidoreductase subunit A6 ISO mRNA:increased expression:blood RGD PMID:26943237 RGD:11572212 NCBI chrNW_004936718:60,797...67,614 JBrowse link
G Ndufb3 NADH:ubiquinone oxidoreductase subunit B3 ISO RGD PMID:28474567 RGD:13792588 NCBI chrNW_004936726:338,384...349,943 JBrowse link
G Ndufb8 NADH:ubiquinone oxidoreductase subunit B8 ISO RGD PMID:14570706 RGD:1358651 NCBI chrNW_004936600:5,122,004...5,126,776 JBrowse link
G Ndufs3 NADH:ubiquinone oxidoreductase core subunit S3 onset ISO RGD PMID:28242297 RGD:13824970 NCBI chrNW_004936562:1,667,780...1,674,670 JBrowse link
G Nectin2 nectin cell adhesion molecule 2 ISO CTD Direct Evidence: marker/mechanism
DNA:SNP: :rs6859 (human)
CTD
RGD
PMID:22159054 PMID:29107063 PMID:30319691 PMID:30320580 RGD:6484658 NCBI chrNW_004936706:1,470,910...1,498,986 JBrowse link
G Nefl neurofilament light chain ISO protein:increased expression:CSF (human) RGD PMID:29368621 PMID:29391125 RGD:127284889 RGD:127285384 NCBI chrNW_004936757:1,642,122...1,646,499 JBrowse link
G Nefm neurofilament medium chain ISO protein:decreased glycosylation:cerebral cortex RGD PMID:17687114 RGD:9743945 NCBI chrNW_004936757:1,662,905...1,668,707 JBrowse link
G Nfe2l2 NFE2 like bZIP transcription factor 2 treatment
onset
ISO protein:increased expression:brain, nucleus
DNA:snps, haplotype:5' utr, intron:multiple (human)
RGD PMID:19805328 PMID:20064547 PMID:22913737 PMID:23771816 RGD:10412683 RGD:10412685 RGD:10412689 RGD:6893326 NCBI chrNW_004936509:6,589,967...6,621,171 JBrowse link
G Ngb neuroglobin treatment ISO RGD PMID:23428737 RGD:9743955 NCBI chrNW_004936488:6,094,089...6,098,876 JBrowse link
G Ngf nerve growth factor ISO RGD PMID:21368378 RGD:5144128 NCBI chrNW_004936627:635,784...641,290 JBrowse link
G Ngfr nerve growth factor receptor treatment
no_association
ISO protein:altered expression:urine
protein:altered localization:brain
DNA:SNP:CDS:rs2072446
protein:decreased expression:basal nucleus of telencephalon, neuron
DNA:SNPs, haplotypes: :multiple
RGD PMID:2557638 PMID:8215963 PMID:10683291 PMID:18780967 PMID:19070649 More... RGD:10413891 RGD:10413892 RGD:10413893 RGD:10413894 RGD:10413895 RGD:10414073 RGD:5508225 RGD:5508228 NCBI chrNW_004936490:12,038,500...12,057,257 JBrowse link
G Nog noggin ISO RGD PMID:19463786 RGD:10414082 NCBI chrNW_004936490:6,262,651...6,264,069 JBrowse link
G Nos1 nitric oxide synthase 1 susceptibility
no_association
ISO DNA:repeat:exon
DNA:repeat:promoter
DNA:SNP:exon:-84G>A (human)
RGD PMID:10964481 PMID:12384247 PMID:17418914 PMID:21098972 RGD:13824974 RGD:13824975 RGD:13824976 RGD:13824978 NCBI chrNW_004936558:5,162,471...5,302,488 JBrowse link
G Nos2 nitric oxide synthase 2 ISO RGD PMID:12384247 PMID:16908860 PMID:21163295 RGD:13824978 RGD:4891161 RGD:5508721 NCBI chrNW_004936538:4,052,277...4,097,051 JBrowse link
G Nos3 nitric oxide synthase 3 onset ISO DNA:snp:cds:p.E298D (human)
ClinVar Annotator: match by term: Alzheimer disease | ClinVar Annotator: match by term: Alzheimer disease, late-onset, susceptibility to
RGD
ClinVar
PMID:9737779 PMID:9894802 PMID:10475066 PMID:10510054 PMID:10514107 More... RGD:1358752 NCBI chrNW_004936527:6,427,147...6,445,770 JBrowse link
G Npy neuropeptide Y treatment ISO CTD Direct Evidence: marker/mechanism
protein:decreased expression:plasma
CTD
RGD
PMID:8592643 PMID:11709213 PMID:22266216 RGD:10431479 RGD:10432246 NCBI chrNW_004936478:1,289,437...1,296,819 JBrowse link
G Nrg1 neuregulin 1 disease_progression ISO RGD PMID:12528817 PMID:29295823 RGD:10449002 RGD:41404730 NCBI chrNW_004936766:1,104,841...1,306,368 JBrowse link
G Nrgn neurogranin ISO RGD PMID:9329454 RGD:9835394 NCBI chrNW_004936743:1,191,716...1,199,108 JBrowse link
G Nrip1 nuclear receptor interacting protein 1 ISO ClinVar Annotator: match by term: Alzheimer disease ClinVar PMID:16369530 PMID:16921174 PMID:24691562 NCBI chrNW_004936505:7,886,327...7,966,969 JBrowse link
G Ntf3 neurotrophin 3 ISO DNA:missense mutation:cds:p.G63E (human) RGD PMID:9502217 RGD:1358754 NCBI chrNW_004936709:2,163,510...2,223,429 JBrowse link
G Ntn1 netrin 1 treatment ISO RGD PMID:30066400 RGD:13782183 NCBI chrNW_004936595:2,146,371...2,323,346 JBrowse link
G Ntrk1 neurotrophic receptor tyrosine kinase 1 disease_progression ISO early onset sporadic AD; DNA:SNP:CDS:rs6336
mRNA:decreased expression:brain
RGD PMID:18780967 PMID:21397006 RGD:5508228 RGD:5684531 NCBI chrNW_004936580:6,002,168...6,021,690 JBrowse link
G Ntrk2 neurotrophic receptor tyrosine kinase 2 treatment ISO sporadic AD; DNA:SNP:intron:rs2289656 RGD PMID:18780967 PMID:21900882 PMID:24877042 RGD:10059402 RGD:5508228 RGD:5684548 NCBI chrNW_004936680:267,850...621,467 JBrowse link
G Nudt1 nudix hydrolase 1 ISO protein:decreased expression:hippocampus RGD PMID:21538080 RGD:10449033 NCBI chrNW_004936823:7,104...22,083 JBrowse link
G Opa1 OPA1 mitochondrial dynamin like GTPase ISO protein:decreased expression:brain RGD PMID:19605646 RGD:7800727 NCBI chrNW_004936711:1,027,531...1,113,796 JBrowse link
G Pak1 p21 (RAC1) activated kinase 1 ISO protein:altered localization RGD PMID:18347024 RGD:2299169 NCBI chrNW_004936498:6,001,126...6,135,663 JBrowse link
G Parp1 poly(ADP-ribose) polymerase 1 susceptibility ISO DNA:haplotypes: :
DNA:haplotypes:cds:rs1136410,rs1805404 (human)
protein:increased activity:brain:
RGD PMID:17290104 PMID:20486200 PMID:21616968 PMID:22051244 RGD:10413885 RGD:10413887 RGD:10413888 RGD:5510011 NCBI chrNW_004936526:3,102,468...3,147,601 JBrowse link
G Pawr pro-apoptotic WT1 regulator ISO mRNA,protein:increased expression:brain: RGD PMID:9701251 RGD:9835364 NCBI chrNW_004936698:650,225...746,593 JBrowse link
G Pcdh11x protocadherin 11 X-linked ISO ClinVar Annotator: match by term: Alzheimer disease ClinVar PMID:29476165 NCBI chrNW_004936649:1,843,290...1,893,991 JBrowse link
G Pck1 phosphoenolpyruvate carboxykinase 1 disease_progression ISO DNA:SNP: :rs8192708(human)
DNA:SNPs
RGD PMID:17440948 PMID:20574532 RGD:10427727 RGD:2311642 NCBI chrNW_004936530:361,872...367,005 JBrowse link
G Pcmt1 protein-L-isoaspartate (D-aspartate) O-methyltransferase ISO mRNA:increased expression:cerebral cortex: RGD PMID:8736634 RGD:10448277 NCBI chrNW_004936489:2,677,740...2,720,387 JBrowse link
G Pcsk1n proprotein convertase subtilisin/kexin type 1 inhibitor ISO RGD PMID:14746899 RGD:1642360 NCBI chrNW_004936721:783,973...787,712 JBrowse link
G Pde2a phosphodiesterase 2A treatment ISO RGD PMID:22771768 RGD:10449025 NCBI chrNW_004936498:1,856,256...1,944,405 JBrowse link
G Pdgfb platelet derived growth factor subunit B ISO protein:increased expression:plasma: RGD PMID:22279551 RGD:10449445 NCBI chrNW_004936492:2,353,840...2,368,573 JBrowse link
G Pebp1 phosphatidylethanolamine binding protein 1 onset ISO mRNA:decreased expression:hippocampus RGD PMID:7770119 PMID:10210891 PMID:11853019 PMID:15941609 RGD:2302735 RGD:2302863 RGD:2302864 RGD:2302869 NCBI chrNW_004936668:2,316,661...2,323,015 JBrowse link
G Pgrmc1 progesterone receptor membrane component 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25390692 NCBI chrNW_004936479:10,625,989...10,634,058 JBrowse link
G Phactr2 phosphatase and actin regulator 2 ISO mRNA: splice variants RGD PMID:20590401 RGD:6483097 NCBI chrNW_004936625:2,336,455...2,474,032 JBrowse link
G Picalm phosphatidylinositol binding clathrin assembly protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:19734902 PMID:21460841 NCBI chrNW_004936498:13,785,638...13,885,931 JBrowse link
G Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma ISO RGD PMID:20025958 RGD:6482689 NCBI chrNW_004936479:17,084,006...17,112,264 JBrowse link
G Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 onset ISO DNA:polymorphism: :p.M326I (human) RGD PMID:12185156 RGD:1625215 NCBI chrNW_004936480:1,188,408...1,273,210 JBrowse link
G Pilra paired immunoglobin like type 2 receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:33589840 NCBI chrNW_004936543:472,520...482,147 JBrowse link
G Plau plasminogen activator, urokinase no_association ISO ClinVar Annotator: match by term: Alzheimer disease, late-onset, susceptibility to RGD
ClinVar
PMID:12898287 PMID:15615772 PMID:15616835 PMID:16341549 PMID:19889475 More... RGD:6483807 NCBI chrNW_004936521:5,238,128...5,243,829 JBrowse link
G Plcb1 phospholipase C beta 1 ISO RGD PMID:8534418 RGD:13825140 NCBI chrNW_004936485:10,548,966...11,254,139 JBrowse link
G Plcd1 phospholipase C delta 1 ISO ClinVar Annotator: match by term: Alzheimer disease, early onset ClinVar PMID:25741868 NCBI chrNW_004936473:27,364,404...27,387,337 JBrowse link
G Plcg1 phospholipase C gamma 1 ISO RGD PMID:8534418 RGD:13825140 NCBI chrNW_004936561:598,372...631,575 JBrowse link
G Plcg2 phospholipase C gamma 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28714976 NCBI chrNW_004936475:29,248,533...29,377,335 JBrowse link
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 chrNW_004936490:14,858,682...14,861,614 JBrowse link
G Pon1 paraoxonase 1 ISO DNA:polymorphisms:multiple SNPs RGD PMID:16319130 RGD:5509926 NCBI chrNW_004936585:4,954,871...4,979,560 JBrowse link
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 chrNW_004936585:4,862,378...4,894,061 JBrowse link
G Pon3 paraoxonase 3 ISO DNA:polymorphisms:multiple SNPs RGD PMID:16319130 RGD:5509926 NCBI chrNW_004936585:4,902,430...4,928,377 JBrowse link
G Ppara peroxisome proliferator activated receptor alpha no_association ISO DNA:SNP:CDS:rs1800206, p.L162V
No association found for any polymorphisms of PPARA, including rs1800206
RGD PMID:12938026 PMID:17850927 RGD:5561899 RGD:5561928 NCBI chrNW_004936629:3,672,445...3,725,645 JBrowse link
G Pparg peroxisome proliferator activated receptor gamma susceptibility
no_association
ISO DNA:SNP:cds:p.P12A(human)
CTD Direct Evidence: marker/mechanism
DNA:SNPs: :multiple (human)
RGD
CTD
PMID:15993441 PMID:16407166 PMID:17440948 PMID:18573313 PMID:30328325 RGD:2301852 RGD:2311642 NCBI chrNW_004936602:1,230,907...1,368,588 JBrowse link
G Ppargc1a PPARG coactivator 1 alpha disease_progression ISO mRNA, protein:decreased expression:hippocampal formation (human) RGD PMID:19273754 PMID:22510382 PMID:22540007 RGD:6484260 RGD:7242017 RGD:7242180 NCBI chrNW_004936477:4,881,230...5,488,208 JBrowse link
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 RGD:10043802 NCBI chrNW_004936490:11,497,389...11,514,191 JBrowse link
G Ppp2r2b protein phosphatase 2 regulatory subunit Bbeta ISO DNA:repeat RGD PMID:21029765 RGD:5686295 NCBI chrNW_004936504:7,655,924...8,097,125 JBrowse link
G Ppp3r1 protein phosphatase 3 regulatory subunit B, alpha disease_progression ISO DNA:SNP: :rs1868402 (human) RGD PMID:21223993 PMID:23727081 RGD:13830878 RGD:13830879 NCBI chrNW_004936491:12,623,931...12,654,463 JBrowse link
G Prkcb protein kinase C beta ISO RGD PMID:8534418 RGD:13825140 NCBI chrNW_004936501:8,410,273...8,729,238 JBrowse link
G Prkn parkin RBR E3 ubiquitin protein ligase treatment ISO protein:increased expression:vessel,astrocyte: RGD PMID:19716418 PMID:24105468 RGD:10412735 RGD:10412736 NCBI chrNW_004936489:12,118,538...12,913,664 JBrowse link
G Psen1 presenilin 1 ISO ClinVar Annotator: match by term: Alzheimer disease | ClinVar Annotator: match by term: Early-Onset Familial Alzheimer Disease ClinVar PMID:8773614 PMID:9384602 PMID:9851443 PMID:9851450 PMID:9915968 More... NCBI chrNW_004936488:2,464,623...2,528,807 JBrowse link
G Psen2 presenilin 2 severity ISO DNA:missense mutation:cds:p.N141I (human)
ClinVar Annotator: match by term: Alzheimer disease | ClinVar Annotator: match by term: Early-Onset Familial Alzheimer Disease
RGD
ClinVar
PMID:9384602 PMID:10976645 PMID:11723295 PMID:14623725 PMID:15130954 More... RGD:9743900 NCBI chrNW_004936526:3,584,194...3,611,719 JBrowse link
G Ptger4 prostaglandin E receptor 4 ISO RGD PMID:22044482 RGD:6483525 NCBI chrNW_004936518:1,903,636...1,916,746 JBrowse link
G Ptgs1 prostaglandin-endoperoxide synthase 1 ISO protein:increased expression:cerebral cortex RGD PMID:10560656 PMID:20157512 PMID:21701788 RGD:5688147 RGD:5688156 RGD:5688249 NCBI chrNW_004936487:10,745,465...10,758,812 JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO mRNA:decreased expression:neocortex, hippocampus RGD PMID:8892355 PMID:9740394 PMID:21701788 RGD:5688147 RGD:5688252 RGD:5688254 NCBI chrNW_004936481:3,821,564...3,828,086 JBrowse link
G Ptk2b protein tyrosine kinase 2 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:33589840 NCBI chrNW_004936675:216,970...325,670 JBrowse link
G Ptpn5 protein tyrosine phosphatase non-receptor type 5 severity ISO protein:increased expression:dentate gyrus (mouse)
protein:increased expression:prefrontal cortex (human)
RGD PMID:16237174 PMID:20427654 PMID:20956308 RGD:10044037 RGD:9835007 RGD:9835008 NCBI chrNW_004936528:523,884...586,306 JBrowse link
G Pyy peptide YY ISO CTD Direct Evidence: marker/mechanism CTD PMID:11709213 NCBI chrNW_004936541:470,806...471,518 JBrowse link
G Rbm11 RNA binding motif protein 11 ISO ClinVar Annotator: match by term: Alzheimer disease ClinVar PMID:16369530 PMID:16921174 PMID:24691562 NCBI chrNW_004936505:7,246,854...7,256,763 JBrowse link
G Rcan1 regulator of calcineurin 1 ISO RGD PMID:11483593 RGD:1580889 NCBI chrNW_004936500:7,942,099...7,950,256 JBrowse link
G Reg1a regenerating family member 1 alpha ISO mRNA:increased expression:brain (human) RGD PMID:2394826 RGD:9850119 NCBI chrNW_004936556:4,873,331...4,875,608 JBrowse link
G Reln reelin ISO protein:increased expression:cerebrospinal fluid (human)
CTD Direct Evidence: marker/mechanism
protein: increased expression: brain
RGD
CTD
PMID:12645087 PMID:20025970 PMID:20610758 RGD:13207521 RGD:729771 NCBI chrNW_004936479:19,628,488...20,088,278 JBrowse link
G Runx1 RUNX family transcription factor 1 ISO associated with Down Syndrome RGD PMID:20946940 RGD:6482829 NCBI chrNW_004936500:7,621,328...7,710,909 JBrowse link
G Samsn1 SAM domain, SH3 domain and nuclear localization signals 1 ISO ClinVar Annotator: match by term: Alzheimer disease ClinVar PMID:16369530 PMID:16921174 PMID:24691562 NCBI chrNW_004936505:7,499,801...7,591,566 JBrowse link
G Sell selectin L severity ISO protein:decreased expression:plasma RGD PMID:21484243 RGD:5685677 NCBI chrNW_004936481:17,022,421...17,032,105 JBrowse link
G Serpine2 serpin family E member 2 ISO RGD PMID:2813392 RGD:2317937 NCBI chrNW_004936569:5,642,328...5,668,278 JBrowse link
G Serpinf1 serpin family F member 1 ISO protein:increased expression:cerebrospinal fluid, serum (human) RGD PMID:17073149 PMID:28320113 RGD:2312353 RGD:27226702 NCBI chrNW_004936538:7,885,816...7,898,308 JBrowse link
G Shc1 SHC adaptor protein 1 ISO protein:increased phosphorylation:neuron RGD PMID:15837797 RGD:1643185 NCBI chrNW_004936580:4,511,560...4,522,003 JBrowse link
G Sirt1 sirtuin 1 treatment ISO protein:increased expression:forebrain (mouse) RGD PMID:16751189 PMID:17581637 RGD:10047116 RGD:2290573 NCBI chrNW_004936521:10,296,097...10,316,673 JBrowse link
G Sirt3 sirtuin 3 ISO mRNA:increased expression:brain
mRNA:increased expression:temporal cortex
RGD PMID:23139766 RGD:9586045 NCBI chrNW_004936888:63,131...78,536 JBrowse link
G Slc18a3 solute carrier family 18 member A3 ISO mRNA, protein:decreased expression:frontal association cortex
mRNA:decreased expression:cerebral cortex
RGD PMID:21333939 PMID:21743130 RGD:5686430 RGD:5686673 NCBI chrNW_004936728:703,688...706,317 JBrowse link
G Slc25a4 solute carrier family 25 member 4 ISO RGD PMID:21958963 RGD:9681463 NCBI chrNW_004936554:4,130,461...4,135,046 JBrowse link
G Slc2a1 solute carrier family 2 member 1 ISO RGD PMID:8179300 RGD:2313620 NCBI chrNW_004936474:24,205,878...24,236,611 JBrowse link
G Slc2a4 solute carrier family 2 member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24055495 NCBI chrNW_004936595:567,267...574,051 JBrowse link
G Slc30a4 solute carrier family 30 member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16580781 NCBI chrNW_004936471:8,125,839...8,155,720 JBrowse link
G Slc30a6 solute carrier family 30 member 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16580781 NCBI chrNW_004936493:1,235,162...1,279,812 JBrowse link
G Slc8a1 solute carrier family 8 member A1 ISO protein:altered expression:synaptosome: RGD PMID:21382638 RGD:13628395 NCBI chrNW_004936508:10,894,918...11,256,084 JBrowse link
G Slc8a2 solute carrier family 8 member A2 ISO protein:altered expression:synaptosome: RGD PMID:21382638 RGD:13628395 NCBI chrNW_004936664:1,116,543...1,139,586 JBrowse link
G Slc8a3 solute carrier family 8 member A3 ISO protein:altered expression:parietal cortex, synaptosome: RGD PMID:21382638 RGD:13628395 NCBI chrNW_004936495:13,236,480...13,370,973 JBrowse link
G Snap91 synaptosome associated protein 91 ISO denntate gyrus, hippocampus, entorhinal cortex
protein:decreased expression:dentate gyrus molecular layer,hippocampus,entorhinal, tempocampal corteces:
RGD PMID:20847448 RGD:13506238 NCBI chrNW_004936510:7,222,200...7,345,138 JBrowse link
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 chrNW_004936685:2,077,017...2,175,298 JBrowse link
G Sncb synuclein beta ISO mRNA:decreased expression:brain RGD PMID:11578596 RGD:6480194 NCBI chrNW_004936597:878,270...888,346 JBrowse link
G Sncg synuclein gamma ISO protein:increased expression:cerebrospinal fluid RGD PMID:18577885 RGD:6478792 NCBI chrNW_004936804:16,869...21,684 JBrowse link
G Snrnp70 small nuclear ribonucleoprotein U1 subunit 70 ISO protein:increased expression:cerebral cortex (human) RGD PMID:24023061 RGD:10448959 NCBI chrNW_004936664:3,035,679...3,054,577 JBrowse link
G Snrpa small nuclear ribonucleoprotein polypeptide A ISO protein:increased expression:cerebral cortex (human) RGD PMID:24023061 RGD:10448959 NCBI chrNW_004936661:3,030,104...3,041,877 JBrowse link
G Sod1 superoxide dismutase 1 ISO mRNA:altered expression:hippocampus, hypothalamus (rat)
protein:decreased expression:frontal lobe (human)
RGD PMID:20027333 PMID:22072713 RGD:8655610 RGD:8657017 NCBI chrNW_004936500:10,345,154...10,352,873 JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:16369462 PMID:19374891 RGD:1579972 NCBI chrNW_004936489:11,178,338...11,191,601 JBrowse link
G Sorl1 sortilin related receptor 1 ISO RGD PMID:15313836 RGD:1581303 NCBI chrNW_004936542:6,192,407...6,352,835 JBrowse link
G Spint1 serine peptidase inhibitor, Kunitz type 1 ISO protein:decreased expression:parietal cortex (human) RGD PMID:9743567 RGD:1581317 NCBI chrNW_004936471:4,238,883...4,251,291 JBrowse link
G Spred2 sprouty related EVH1 domain containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:33589840 NCBI chrNW_004936491:10,053,546...10,170,950 JBrowse link
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 RGD:10403051 NCBI chrNW_004936490:17,119,189...17,178,402 JBrowse link
G Stox1 storkhead box 1 severity ISO protein:increased expression:CA4 field of hippocampus (human) RGD PMID:20110611 RGD:11554028 NCBI chrNW_004936521:9,500,443...9,554,082 JBrowse link
G Tap2 transporter 2, ATP binding cassette subfamily B member susceptibility ISO DNA:SNP: :(rs241448)(human) RGD PMID:16595160 RGD:6482265 NCBI chrNW_004936476:25,913,699...25,923,419 JBrowse link
G Tdo2 tryptophan 2,3-dioxygenase treatment ISO RGD PMID:27190010 RGD:13601984 NCBI chrNW_004936576:2,537,702...2,555,790 JBrowse link
G Tfam transcription factor A, mitochondrial susceptibility ISO CTD Direct Evidence: marker/mechanism
DNA:SNP:intron:IVS4+113A>G (rs2306604) (human)
DNA:SNP: :rs1937 (human)
CTD
RGD
PMID:17192785 PMID:17537576 PMID:21799244 RGD:6767575 RGD:6771185 NCBI chrNW_004936614:4,595,973...4,605,040 JBrowse link
G Thbd thrombomodulin ISO protein:increased expression:blood RGD PMID:15760641 RGD:5685018 NCBI chrNW_004936620:2,563,900...2,568,117 JBrowse link
G Timp2 TIMP metallopeptidase inhibitor 2 ISO RGD PMID:12614934 RGD:1580169 NCBI chrNW_004936594:3,232,433...3,244,241 JBrowse link
G Tlr4 toll like receptor 4 ISO RGD PMID:16157451 RGD:1580680 NCBI chrNW_004936487:6,519,140...6,532,018 JBrowse link
G Tmed10 transmembrane p24 trafficking protein 10 ISO protein:decreased expression:brain cortex (human) RGD PMID:18652896 RGD:2317276 NCBI chrNW_004936488:4,265,731...4,303,895 JBrowse link
G Tmprss15 transmembrane serine protease 15 ISO ClinVar Annotator: match by term: Alzheimer disease ClinVar PMID:16369530 PMID:16921174 PMID:24691562 NCBI chrNW_004936505:10,605,831...10,725,760 JBrowse link
G Tnf tumor necrosis factor onset
susceptibility
no_association
ISO DNA:polymorphism:promoter:-308G>A(human)
ClinVar Annotator: match by term: Alzheimer disease, protection against
DNA:polymorphism:promoter:multiple(human)
RGD
ClinVar
PMID:10400991 PMID:15468911 PMID:16516271 PMID:16908746 PMID:18834925 More... RGD:13825248 RGD:13825253 RGD:13825256 RGD:13825257 NCBI chrNW_004936727:1,936,066...1,937,766 JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A no_association ISO protein:increased expression:cerebrospinal fluid:
protein:increased expression:brain:
RGD PMID:17267158 PMID:17724122 PMID:20110607 PMID:21978728 RGD:13825249 RGD:13825266 RGD:13825267 RGD:13825268 NCBI chrNW_004936709:1,407,327...1,421,448 JBrowse link
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 chrNW_004936474:908,414...935,765 JBrowse link
G Tomm40 translocase of outer mitochondrial membrane 40 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27023435 PMID:29107063 PMID:30319691 PMID:30320580 NCBI chrNW_004936706:1,500,244...1,510,328 JBrowse link
G Tp53 tumor protein p53 ISO RGD PMID:17581637 RGD:2290573 NCBI chrNW_004936595:919,807...935,367 JBrowse link
G Tph1 tryptophan hydroxylase 1 ISO RGD PMID:15182943 RGD:1580467 NCBI chrNW_004936528:1,090,529...1,116,081 JBrowse link
G Tpi1 triosephosphate isomerase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19374891 NCBI chrNW_004936709:948,151...951,430 JBrowse link
G Tpp1 tripeptidyl peptidase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10320038 NCBI chrNW_004936842:669,869...676,706 JBrowse link
G Trem2 triggering receptor expressed on myeloid cells 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24663666 PMID:28714976 NCBI chrNW_004936476:18,659,725...18,665,406 JBrowse link
G Tsc2 TSC complex subunit 2 ISO RGD PMID:16341938 RGD:1580518 NCBI chrNW_004936694:1,958,152...1,993,373 JBrowse link
G Tspan14 tetraspanin 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:33589840 NCBI chrNW_004936716:285,395...342,953 JBrowse link
G Ttr transthyretin ISO RGD PMID:16552785 RGD:1580525 NCBI chrNW_004936682:1,628,489...1,635,495 JBrowse link
G Uchl1 ubiquitin C-terminal hydrolase L1 ISO RGD PMID:14722078 RGD:1580538 NCBI chrNW_004936482:8,551,749...8,563,586 JBrowse link
G Ucp1 uncoupling protein 1 ISO protein:decreased expression:plasma (human) RGD PMID:24498895 RGD:10045648 NCBI chrNW_004936535:7,258,146...7,265,475 JBrowse link
G Usp25 ubiquitin specific peptidase 25 ISO ClinVar Annotator: match by term: Alzheimer disease ClinVar PMID:16369530 PMID:16921174 PMID:24691562 NCBI chrNW_004936505:8,613,588...8,683,560 JBrowse link
G Vegfa vascular endothelial growth factor A ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:15732116 RGD:1580571 NCBI chrNW_004936476:16,245,134...16,261,180 JBrowse link
G Vim vimentin ISO protein:increased expression:brain RGD PMID:19728994 RGD:6480519 NCBI chrNW_004936520:10,051,692...10,059,324 JBrowse link
G Vldlr very low density lipoprotein receptor ISO DNA:repeat RGD PMID:7550352 RGD:737739 NCBI chrNW_004936503:2,407,040...2,440,366 JBrowse link
G Vps13c vacuolar protein sorting 13 homolog C ISO ClinVar Annotator: match by term: Alzheimer disease, early onset ClinVar PMID:25741868 NCBI chrNW_004936471:22,661,899...22,842,144 JBrowse link
G Vsnl1 visinin like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25806004 NCBI chrNW_004936493:13,258,420...13,362,190 JBrowse link
G Wt1 WT1 transcription factor ISO RGD PMID:12914969 RGD:1580623 NCBI chrNW_004936533:5,411,949...5,459,693 JBrowse link
G Wwox WW domain containing oxidoreductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:30820047 NCBI chrNW_004936475:26,342,245...27,209,563 JBrowse link
G Xrn1 5'-3' exoribonuclease 1 susceptibility ISO DNA:snp:intron:c.1883+365T>C (rs1351965) (human) RGD PMID:22984654 RGD:11528589 NCBI chrNW_004936540:3,959,156...4,073,785 JBrowse link
Alzheimer's disease 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hfe homeostatic iron regulator ISO OMIM NCBI chrNW_004936671:1,940,079...1,947,574 JBrowse link
G LOC101959175 amyloid beta precursor protein ISO ClinVar Annotator: match by term: APP POLYMORPHISM | ClinVar Annotator: match by term: Alzheimer disease type 1 | ClinVar Annotator: match by term: Early-onset familial form of Alzheimer disease OMIM
ClinVar
PMID:1303239 PMID:1303275 PMID:1415269 PMID:1520398 PMID:1634237 More... NCBI chrNW_004936640:1,549,977...1,787,436 JBrowse link
G Mpo myeloperoxidase ISO OMIM NCBI chrNW_004936490:4,809,773...4,819,070 JBrowse link
G Nos3 nitric oxide synthase 3 ISO OMIM NCBI chrNW_004936527:6,427,147...6,445,770 JBrowse link
G Plau plasminogen activator, urokinase ISO OMIM NCBI chrNW_004936521:5,238,128...5,243,829 JBrowse link
Alzheimer's disease 18 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adam10 ADAM metallopeptidase domain 10 susceptibility ISO ClinVar Annotator: match by term: Alzheimer disease 18 OMIM
ClinVar
PMID:19608551 PMID:24055016 NCBI chrNW_004936471:19,760,709...19,911,759 JBrowse link
Alzheimer's disease 19 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pld3 phospholipase D family member 3 ISO ClinVar Annotator: match by term: Alzheimer disease 19 ClinVar PMID:24336208 PMID:25832408 PMID:25832410 PMID:25832411 PMID:28492532 NCBI chrNW_004936661:2,741,523...2,763,945 JBrowse link
Alzheimer's disease 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoe apolipoprotein E ISO ClinVar Annotator: match by term: Alzheimer disease associated with APOE E4 OMIM
ClinVar
PMID:2987927 PMID:3353383 PMID:3922972 PMID:7263700 PMID:8294487 More... NCBI chrNW_004936706:1,512,438...1,516,805 JBrowse link
Alzheimer's disease 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoe apolipoprotein E ISO OMIM NCBI chrNW_004936706:1,512,438...1,516,805 JBrowse link
G Kif5c kinesin family member 5C ISO protein:decreased expression:cerebellum (human) RGD PMID:24569455 RGD:12859086 NCBI chrNW_004936469:28,282,921...28,431,638 JBrowse link
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 More... NCBI chrNW_004936607:628,469...761,117 JBrowse link
G Psen1 presenilin 1 ISO ClinVar Annotator: match by term: ALZHEIMER DISEASE, FAMILIAL, 3 | ClinVar Annotator: match by term: Alzheimer disease 3 | ClinVar Annotator: match by term: Early onset Alzheimer disease with behavioral disturbance OMIM
ClinVar
PMID:1985297 PMID:2025423 PMID:2793034 PMID:7550356 PMID:7581374 More... NCBI chrNW_004936488:2,464,623...2,528,807 JBrowse link
Alzheimer's disease 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoe apolipoprotein E ISO ClinVar Annotator: match by term: Alzheimer disease 4 | ClinVar Annotator: match by term: Alzheimer disease familial type 4 ClinVar PMID:2987927 PMID:3353383 PMID:3922972 PMID:7263700 PMID:8294487 More... NCBI chrNW_004936706:1,512,438...1,516,805 JBrowse link
G Psen1 presenilin 1 ISO ClinVar Annotator: match by term: Alzheimer disease 4 ClinVar PMID:8910898 PMID:9189043 PMID:9804121 PMID:15205973 PMID:27777022 More... NCBI chrNW_004936488:2,464,623...2,528,807 JBrowse link
G Psen2 presenilin 2 ISO ClinVar Annotator: match by term: Alzheimer disease 4 OMIM
ClinVar
PMID:7550356 PMID:7638622 PMID:7651536 PMID:8661049 PMID:8939861 More... NCBI chrNW_004936526:3,584,194...3,611,719 JBrowse link
Alzheimer's disease 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca7 ATP binding cassette subfamily A member 7 susceptibility ISO ClinVar Annotator: match by term: ALZHEIMER DISEASE 9, LATE-ONSET | ClinVar Annotator: match by term: Alzheimer disease 9 OMIM
ClinVar
PMID:25741868 PMID:25807283 PMID:26141617 PMID:27066581 PMID:28492532 More... NCBI chrNW_004936588:460,308...477,382 JBrowse link
G Sorl1 sortilin related receptor 1 ISO ClinVar Annotator: match by term: Alzheimer disease 9 ClinVar PMID:28789839 NCBI chrNW_004936542:6,192,407...6,352,835 JBrowse link
Alzheimer's Disease, Early-Onset, with Cerebral Amyloid Angiopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC101959175 amyloid beta precursor protein ISO ClinVar Annotator: match by term: Alzheimer disease, early-onset, with cerebral amyloid angiopathy ClinVar PMID:16369530 PMID:19047566 NCBI chrNW_004936640:1,549,977...1,787,436 JBrowse link
Alzheimer's Disease, Familial, 3, with Spastic Paraparesis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Psen1 presenilin 1 ISO ClinVar Annotator: match by term: Alzheimer disease familial 3, with spastic paraparesis ClinVar PMID:24121961 PMID:25741868 NCBI chrNW_004936488:2,464,623...2,528,807 JBrowse link
Alzheimer's Disease, Familial, 3, with Spastic Paraparesis and Apraxia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoe apolipoprotein E ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004936706:1,512,438...1,516,805 JBrowse link
G Psen1 presenilin 1 ISO ClinVar Annotator: match by term: Alzheimer disease, familial, 3, with spastic paraparesis and apraxia ClinVar PMID:11920851 PMID:15534188 PMID:25741868 NCBI chrNW_004936488:2,464,623...2,528,807 JBrowse link
Alzheimer's Disease, Familial, 3, with Spastic Paraparesis and Unusual Plaques term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Psen1 presenilin 1 ISO ClinVar Annotator: match by term: Alzheimer disease, familial, 3, 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, with spastic paraparesis and unusual plaques ClinVar PMID:7550356 PMID:8755489 PMID:9172170 PMID:9546792 PMID:10720282 More... NCBI chrNW_004936488:2,464,623...2,528,807 JBrowse link
Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trem2 triggering receptor expressed on myeloid cells 2 ISO ClinVar Annotator: match by term: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 OMIM
ClinVar
PMID:6681564 PMID:12080485 PMID:12754369 PMID:12925681 PMID:15883308 More... NCBI chrNW_004936476:18,659,725...18,665,406 JBrowse link
Presenile and Senile Dementia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoe apolipoprotein E ISO ClinVar Annotator: match by term: Presenile and senile dementia ClinVar PMID:2987927 PMID:3353383 PMID:3922972 PMID:7263700 PMID:8294487 More... NCBI chrNW_004936706:1,512,438...1,516,805 JBrowse link
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 More... NCBI chrNW_004936671:1,940,079...1,947,574 JBrowse link
G Il1b interleukin 1 beta ISO RGD PMID:23126199 RGD:7193138 NCBI chrNW_004936783:1,251,678...1,256,807 JBrowse link
G LOC101959175 amyloid beta precursor protein ISO ClinVar Annotator: match by term: Presenile and senile dementia ClinVar PMID:1303239 PMID:1303275 PMID:1679289 PMID:2111584 PMID:8499923 More... NCBI chrNW_004936640:1,549,977...1,787,436 JBrowse link
progressive supranuclear palsy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eif2ak3 eukaryotic translation initiation factor 2 alpha kinase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21685912 NCBI chrNW_004936712:413,602...454,443 JBrowse link
G LOC101956318 myelin associated oligodendrocyte basic protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:21685912 NCBI chrNW_004936473:28,663,986...28,709,394 JBrowse link
G LOC101975729 TAR DNA binding protein ISO RGD PMID:20512649 RGD:5687185 NCBI chrNW_004936474:90,813...103,713 JBrowse link
G Mapt microtubule associated protein tau onset ISO ClinVar Annotator: match by term: Progressive supranuclear ophthalmoplegia OMIM
ClinVar
RGD
PMID:8673924 PMID:9629852 PMID:9641683 PMID:9736786 PMID:9789048 More... RGD:8158099 NCBI chrNW_004936541:2,381,411...2,479,984 JBrowse link
G Ogg1 8-oxoguanine DNA glycosylase ISO protein:increased expression:pontine nucleus, neuron RGD PMID:15841414 RGD:8657142 NCBI chrNW_004936602:3,411,106...3,418,826 JBrowse link
G Sod1 superoxide dismutase 1 ISO protein:increased activity:brain (human) RGD PMID:11879807 RGD:8655859 NCBI chrNW_004936500:10,345,154...10,352,873 JBrowse link
G Srsf2 serine and arginine rich splicing factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25402454 NCBI chrNW_004936594:1,775,412...1,778,389 JBrowse link
G Stx6 syntaxin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21685912 NCBI chrNW_004936481:8,362,059...8,405,228 JBrowse link
G Tra2b transformer 2 beta homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:25402454 NCBI chrNW_004936578:3,949,820...3,970,462 JBrowse link
Progressive Supranuclear Palsy Atypical term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mapt microtubule associated protein tau ISO OMIM NCBI chrNW_004936541:2,381,411...2,479,984 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13624
    disease of anatomical entity 13360
      nervous system disease 11358
        neurodegenerative disease 3475
          tauopathy 461
            Alzheimer's disease + 452
            Diffuse Neurofibrillary Tangles with Calcification 0
            progressive supranuclear palsy + 9
Path 2
Term Annotations click to browse term
  disease 13624
    disease of anatomical entity 13360
      nervous system disease 11358
        central nervous system disease 9969
          neurodegenerative disease 3475
            tauopathy 461
              Alzheimer's disease + 452
              Diffuse Neurofibrillary Tangles with Calcification 0
              progressive supranuclear palsy + 9
paths to the root