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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:dementia
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Accession:DOID:1307 term browser browse the term
Definition:An acquired organic mental disorder with loss of intellectual abilities of sufficient severity to interfere with social or occupational functioning. The dysfunction is multifaceted and involves memory, behavior, personality, judgment, attention, spatial relations, language, abstract thought, and other executive functions. The intellectual decline is usually progressive, and initially spares the level of consciousness.
Synonyms:exact_synonym: Amentia;   Amentias;   Dementias;   Familial Dementia;   Familial Dementias;   Senile Paranoid Dementia;   Senile Paranoid Dementias
 primary_id: MESH:D003704;   RDO:0000259
 xref: ICD9CM:290.8
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
dementia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acyp1 acylphosphatase 1 ISO ClinVar Annotator: match by term: Dementia ClinVar PMID:23352160 PMID:23773996 PMID:24386122 PMID:24767253 PMID:25741868 PMID:25764212 PMID:27792009 PMID:28492532 PMID:30311386 NCBI chr 6:109,097,065...109,110,266
Ensembl chr 6:109,097,065...109,104,050
JBrowse link
G Adipoq adiponectin, C1Q and collagen domain containing ISO protein:increased expression:plasma RGD PMID:22213409 RGD:5686377 NCBI chr11:81,330,845...81,344,488
Ensembl chr11:81,330,293...81,344,488
JBrowse link
G Apoe apolipoprotein E ISO ClinVar Annotator: match by term: Dementia ClinVar PMID:2987927 PMID:3922972 PMID:7263700 PMID:8346443 PMID:8618665 PMID:8644717 PMID:9343467 PMID:9932938 PMID:10213549 PMID:10799751 PMID:11835377 PMID:11940689 PMID:11940706 PMID:14741101 PMID:15048896 PMID:15184602 PMID:15326261 PMID:15557508 PMID:15668424 PMID:19605830 PMID:22381401 PMID:23060451 PMID:23296339 PMID:23571587 PMID:24033266 PMID:25741868 PMID:27260402 PMID:30311386, PMID:15118671 RGD:1331525 NCBI chr 1:80,612,894...80,616,820
Ensembl chr 1:80,612,895...80,617,057
JBrowse link
G App amyloid beta precursor protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:22300406 NCBI chr11:24,425,013...24,641,872
Ensembl chr11:24,425,005...24,641,858
JBrowse link
G Bace1 beta-secretase 1 treatment IMP RGD PMID:28683457 RGD:13782142 NCBI chr 8:50,140,092...50,162,388
Ensembl chr 8:50,139,997...50,162,361
JBrowse link
G Bax BCL2 associated X, apoptosis regulator treatment IEP RGD PMID:21473886 RGD:10054040 NCBI chr 1:101,451,801...101,457,207
Ensembl chr 1:101,451,802...101,457,207
JBrowse link
G Bche butyrylcholinesterase ISO associated with Parkinson Disease;protein:increased expression:cerebrospinal fluid RGD PMID:2953866 RGD:5688127 NCBI chr 2:171,104,476...171,196,186
Ensembl chr 2:171,100,140...171,196,395
JBrowse link
G Bcl2 BCL2, apoptosis regulator treatment IEP RGD PMID:21473886 RGD:10054040 NCBI chr13:26,605,426...26,769,374
Ensembl chr13:26,605,426...26,769,374
JBrowse link
G Capzb capping actin protein of muscle Z-line subunit beta IEP protein:decreased expression:hippocampus RGD PMID:20545768 RGD:9685031 NCBI chr 5:157,642,742...157,742,487
Ensembl chr 5:157,642,751...157,742,478
JBrowse link
G Cp ceruloplasmin ISO CTD Direct Evidence: marker/mechanism CTD PMID:12572680 NCBI chr 2:104,744,249...104,803,034
Ensembl chr 2:104,744,461...104,799,853
JBrowse link
G Dnmt1 DNA methyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21532572 NCBI chr 8:21,922,515...21,968,495
Ensembl chr 8:21,922,515...21,968,495
JBrowse link
G Drd2 dopamine receptor D2 IEP mRNA:decreased expression:striatum (rat) RGD PMID:19500946 RGD:2311554 NCBI chr 8:53,678,777...53,743,643
Ensembl chr 8:53,678,777...53,743,642
JBrowse link
G E2f1 E2F transcription factor 1 ISO associated with Down Syndrome;protein:increased expression:frontal cortex; RGD PMID:11423103 RGD:10401091 NCBI chr 3:150,062,895...150,073,721
Ensembl chr 3:150,047,826...150,073,721
JBrowse link
G Egfr epidermal growth factor receptor ISO RGD PMID:2354367 RGD:10059682 NCBI chr14:99,919,485...100,104,136
Ensembl chr14:99,919,485...100,098,796
JBrowse link
G Gba glucosylceramidase beta ISO ClinVar Annotator: match by term: Dementia ClinVar PMID:2269438 PMID:10649495 PMID:25435509 PMID:28727984 PMID:29685539 PMID:30311386 PMID:30497978 NCBI chr 2:188,511,781...188,522,602
Ensembl chr 2:188,516,582...188,522,601
JBrowse link
G Grn granulin precursor onset ISO DNA:polymorphism: :rs1990622(human)
CTD Direct Evidence: marker/mechanism
CTD PMID:17436289 PMID:18543312, PMID:21220649 RGD:5509592 NCBI chr10:90,377,103...90,383,207
Ensembl chr10:90,376,933...90,383,205
JBrowse link
G Gsr glutathione-disulfide reductase ISO associated with Uremia RGD PMID:19242659 RGD:10401864 NCBI chr16:62,197,617...62,239,987
Ensembl chr16:62,197,617...62,241,361
JBrowse link
G Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase ISO RGD PMID:17640385 RGD:5508465 NCBI chr 2:27,480,224...27,500,654
Ensembl chr 2:27,480,226...27,500,654
JBrowse link
G Igf1r insulin-like growth factor 1 receptor ISO RGD PMID:16983186 RGD:10045873 NCBI chr 1:128,924,921...129,213,816
Ensembl chr 1:128,924,966...129,206,516
JBrowse link
G Lrp8 LDL receptor related protein 8 ISO DNA:mutation: :p.R952Q (human) RGD PMID:17614163 RGD:6483063 NCBI chr 5:127,404,348...127,476,636
Ensembl chr 5:127,404,450...127,476,641
JBrowse link
G Lrpap1 LDL receptor related protein associated protein 1 susceptibility ISO DNA:insertion,deletion:intron: RGD PMID:18721259 RGD:10412053 NCBI chr14:80,911,281...80,923,290
Ensembl chr14:80,911,270...80,924,831
JBrowse link
G Lrrk2 leucine-rich repeat kinase 2 ISO ClinVar Annotator: match by term: Dementia ClinVar PMID:30311386 NCBI chr 7:132,857,311...133,018,549
Ensembl chr 7:132,857,628...133,018,584
JBrowse link
G Mapt microtubule-associated protein tau disease_progression ISO DNA:haplotype: :
ClinVar Annotator: match by term: Dementia
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:7783864 PMID:7936288 PMID:8940276 PMID:9088499 PMID:9392579 PMID:9641683 PMID:10202939 PMID:10329720 PMID:10443890 PMID:10446810 PMID:11255441 PMID:11402146 PMID:11641718 PMID:11708988 PMID:11889249 PMID:11912108 PMID:11971081 PMID:11971082 PMID:12847166 PMID:14755449 PMID:15372253 PMID:17923640 PMID:18525295 PMID:19365643 PMID:19766248 PMID:19786698 PMID:19884572 PMID:19914360 PMID:20045477 PMID:22300406 PMID:23680655 PMID:23885714 PMID:25683866 PMID:25741868 PMID:26136155 PMID:26467025 PMID:27594586 PMID:28097206 PMID:28492532, PMID:20930301 RGD:10412700 NCBI chr10:92,289,002...92,386,517
Ensembl chr10:92,288,910...92,386,517
JBrowse link
G Msh6 mutS homolog 6 ISO ClinVar Annotator: match by term: Dementia ClinVar PMID:25741868 PMID:30311386 NCBI chr 6:11,644,565...11,662,389
Ensembl chr 6:11,644,578...11,662,499
JBrowse link
G Ngfr nerve growth factor receptor IEP associated with Autoimmune Diseases;protein:decreased expression:medial septal nucleus RGD PMID:8232919 RGD:10413897 NCBI chr10:83,389,828...83,408,061
Ensembl chr10:83,389,847...83,408,061
JBrowse link
G Nos2 nitric oxide synthase 2 ISO RGD PMID:10674474 RGD:1358529 NCBI chr10:66,188,290...66,221,621
Ensembl chr10:66,189,786...66,313,190
JBrowse link
G Notch4 notch receptor 4 ISO RGD PMID:21297263 RGD:6480775 NCBI chr20:4,329,794...4,353,868
Ensembl chr20:4,329,811...4,353,785
JBrowse link
G Npc2 NPC intracellular cholesterol transporter 2 ISO ClinVar Annotator: match by term: Dementia ClinVar PMID:23352160 PMID:23773996 PMID:24386122 PMID:24767253 PMID:25741868 PMID:25764212 PMID:27792009 PMID:28492532 PMID:30311386 NCBI chr 6:108,467,410...108,488,330
Ensembl chr 6:108,467,410...108,488,330
JBrowse link
G Npy neuropeptide Y ISO associated with Parkinson Disease;protein:decreased expression:cerebral cortex RGD PMID:2903567 RGD:10433462 NCBI chr 4:79,557,856...79,565,059
Ensembl chr 4:79,557,854...79,565,097
JBrowse link
G Nrg1 neuregulin 1 treatment ISO RGD PMID:21473886 RGD:10054040 NCBI chr16:62,969,573...64,065,063
Ensembl chr16:63,837,216...64,057,434
JBrowse link
G Pcsk1n proprotein convertase subtilisin/kexin type 1 inhibitor ISO associated with Parkinson Disease RGD PMID:14746899 RGD:1642360 NCBI chr  X:15,324,263...15,327,705 JBrowse link
G Pla2g7 phospholipase A2 group VII ISO RGD PMID:16278861 RGD:6482779 NCBI chr 9:19,935,754...19,978,013
Ensembl chr 9:19,935,768...19,978,013
JBrowse link
G Pon1 paraoxonase 1 susceptibility ISO DNA:snp, missense mutation, haplotype:promoter, cds:g.-107T>C, p.Q129R (human) RGD PMID:15016430 RGD:1358562 NCBI chr 4:30,249,749...30,276,297
Ensembl chr 4:30,249,742...30,276,372
JBrowse link
G Psen1 presenilin 1 ISO ClinVar Annotator: match by term: Dementia ClinVar PMID:25741868 PMID:30311386 PMID:31153663 NCBI chr 6:107,169,514...107,221,000
Ensembl chr 6:107,169,528...107,216,798
JBrowse link
G Slc25a24 solute carrier family 25 member 24 ISO ClinVar Annotator: match by term: Dementia ClinVar PMID:25741868 NCBI chr 2:211,930,371...211,967,511
Ensembl chr 2:211,930,326...211,967,505
JBrowse link
G Slc6a3 solute carrier family 6 member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18579413 NCBI chr 1:32,323,011...32,363,983
Ensembl chr 1:32,321,580...32,363,983
JBrowse link
G Slc9a8 solute carrier family 9 member A8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19234771 NCBI chr 3:164,173,045...164,224,747
Ensembl chr 3:164,174,357...164,222,329
JBrowse link
G Trem2 triggering receptor expressed on myeloid cells 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18546367 NCBI chr 9:14,611,541...14,618,076
Ensembl chr 9:14,611,561...14,618,013
JBrowse link
G Tyrobp transmembrane immune signaling adaptor Tyrobp ISO ClinVar Annotator: match by term: Dementia ClinVar PMID:25741868 NCBI chr 1:88,875,370...88,879,305
Ensembl chr 1:88,875,375...88,879,303
JBrowse link
G Vcp valosin-containing protein ISO IBMPFD, OMIM:167320 RGD PMID:15034582 RGD:1599735 NCBI chr 5:58,426,548...58,445,953
Ensembl chr 5:58,426,549...58,445,953
JBrowse link
G Vldlr very low density lipoprotein receptor ISO DNA:repeat RGD PMID:11342683 RGD:737740 NCBI chr 1:245,236,819...245,273,688
Ensembl chr 1:245,237,736...245,269,205
JBrowse link
G Vwf von Willebrand factor ISO ClinVar Annotator: match by term: Dementia ClinVar PMID:30311386 NCBI chr 4:158,085,059...158,219,525
Ensembl chr 4:158,088,505...158,219,523
JBrowse link
AIDS Dementia Complex term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adrb2 adrenoceptor beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27400929 NCBI chr18:57,513,792...57,515,834
Ensembl chr18:57,513,793...57,515,834
JBrowse link
G Epo erythropoietin treatment ISO RGD PMID:20818790 RGD:10395393 NCBI chr12:22,274,828...22,278,268
Ensembl chr12:22,274,828...22,278,266
JBrowse link
G Gc GC, vitamin D binding protein ISO associated with HIV Infections;protein:increased expression:cerebrospinal fluid: RGD PMID:17929958 RGD:5509882 NCBI chr14:20,267,023...20,302,577
Ensembl chr14:20,266,891...20,302,581
JBrowse link
G Il1b interleukin 1 beta IEP protein:increased expression:neocortex RGD PMID:17678975 RGD:1626641 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
JBrowse link
G Insr insulin receptor severity ISO protein:increased expression:cerebrospinal fluid, plasma RGD PMID:22629383 RGD:10403033 NCBI chr12:1,682,527...1,816,414
Ensembl chr12:1,680,957...1,816,414
JBrowse link
G Irs1 insulin receptor substrate 1 severity ISO protein:decreased tyrosine phosphorylation:cerebrospinal fluid, leukocyte RGD PMID:22629383 RGD:10403033 NCBI chr 9:88,033,668...88,086,488
Ensembl chr 9:88,033,668...88,086,488
JBrowse link
G Npy neuropeptide Y severity ISO protein:increased expression:cerebrospinal fluid RGD PMID:8815163 RGD:10431910 NCBI chr 4:79,557,856...79,565,059
Ensembl chr 4:79,557,854...79,565,097
JBrowse link
G Oprm1 opioid receptor, mu 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27400929 NCBI chr 1:43,454,803...43,704,948
Ensembl chr 1:43,454,803...43,704,948
JBrowse link
G Pdgfb platelet derived growth factor subunit B ISO RGD PMID:21368226 RGD:6482787 NCBI chr 7:121,215,458...121,233,092
Ensembl chr 7:121,214,628...121,232,741
JBrowse link
G Slc6a4 solute carrier family 6 member 4 ISO RGD PMID:25404050 RGD:38676266 NCBI chr10:63,153,656...63,188,377
Ensembl chr10:63,153,651...63,176,463
JBrowse link
Alzheimer's disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G A2m alpha-2-macroglobulin no_association
onset
ISO ClinVar Annotator: match by term: Alzheimer disease, susceptibility to
CTD Direct Evidence: marker/mechanism
DNA:polymorphisms: :multiple
DNA:deletion, polymorphisms, haplotypes: :multiple
DNA:polymorphism: :p.I1000V (human)
DNA:insertion/deletion, substitution
DNA:deletion:splice junction:
ClinVar
CTD
PMID:1717945 PMID:9697696 PMID:9811940 PMID:15023809 PMID:24033266, PMID:10319853, PMID:12966032, PMID:12966032, PMID:10936700, PMID:12133586, PMID:14675603, PMID:9697696 RGD:1300322, RGD:10046016, RGD:10046016, RGD:10046015, RGD:10046014, RGD:10046012, RGD:1302534 NCBI chr 4:154,309,426...154,359,138
Ensembl chr 4:154,309,426...154,359,137
JBrowse link
G Abat 4-aminobutyrate aminotransferase ISO RGD PMID:1627256 RGD:10046060 NCBI chr10:7,093,406...7,200,439
Ensembl chr10:7,093,405...7,200,499
JBrowse link
G Abca1 ATP binding cassette subfamily A member 1 ISO RGD PMID:15024730 RGD:1300323 NCBI chr 5:69,857,717...69,983,042
Ensembl chr 5:69,857,771...69,983,015
JBrowse link
G Abca7 ATP binding cassette subfamily A member 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21460840 PMID:25807283 NCBI chr 7:12,742,433...12,762,423
Ensembl chr 7:12,742,433...12,762,341
JBrowse link
G Abcb1a ATP binding cassette subfamily B member 1A ISO RGD PMID:25991605 RGD:13801010 NCBI chr 4:22,339,829...22,517,642
Ensembl chr 4:22,133,521...22,425,515
JBrowse link
G Abcc1 ATP binding cassette subfamily C member 1 ISO RGD PMID:25991605 RGD:13801010 NCBI chr10:549,537...672,235
Ensembl chr10:549,883...672,196
JBrowse link
G Abi3 ABI family, member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28714976 NCBI chr10:83,644,086...83,655,182
Ensembl chr10:83,644,086...83,655,182
JBrowse link
G Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase ISO protein:increased expression:brain: RGD PMID:19700222 RGD:8693570 NCBI chr 3:10,041,820...10,145,076
Ensembl chr 3:10,041,826...10,144,388
JBrowse link
G Acadvl acyl-CoA dehydrogenase, very long chain ISO protein:decreased expression:brain RGD PMID:25260493 RGD:10047114 NCBI chr10:56,619,321...56,624,468
Ensembl chr10:56,619,303...56,624,526
JBrowse link
G Ace angiotensin I converting enzyme IMP
ISO
CTD Direct Evidence: marker/mechanism CTD PMID:9916793 PMID:10643899 PMID:14872014 PMID:17192785 PMID:30820047, PMID:19080340, PMID:15118671 RGD:2325232, RGD:1331525 NCBI chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
JBrowse link
G Ache acetylcholinesterase ISO CTD Direct Evidence: marker/mechanism CTD PMID:22944069 PMID:23047022, PMID:16581404 RGD:5509844 NCBI chr12:22,472,358...22,477,052
Ensembl chr12:22,472,358...22,478,753
JBrowse link
G Adam10 ADAM metallopeptidase domain 10 IEP
ISO
protein:decreased expression:cerebral cortex, hippocampus
CTD Direct Evidence: marker/mechanism
CTD PMID:30820047, PMID:23296102, PMID:24792732 RGD:13703032, RGD:13703037 NCBI chr 8:77,107,355...77,237,483
Ensembl chr 8:77,107,536...77,237,483
JBrowse link
G Adam17 ADAM metallopeptidase domain 17 onset IEP
ISO
protein:decreased expression:cerebral cortex, hippocampus
DNA:missense mutation: :p.R215I (rs142946965) (human)
RGD PMID:24792732, PMID:29988083 RGD:13703037, RGD:13782143 NCBI chr 6:43,400,525...43,448,280
Ensembl chr 6:43,400,528...43,448,280
JBrowse link
G Adam2 ADAM metallopeptidase domain 2 ISO protein:increased expression:brain RGD PMID:10686596 RGD:10047127 NCBI chr15:42,708,536...42,751,281
Ensembl chr15:42,708,387...42,751,330
JBrowse link
G Adam9 ADAM metallopeptidase domain 9 IEP protein:decreased expression:hippocampus RGD PMID:24792732 RGD:13703037 NCBI chr16:71,810,377...71,887,926
Ensembl chr16:71,810,377...71,887,926
JBrowse link
G Adamts1 ADAM metallopeptidase with thrombospondin type 1 motif, 1 ISO ClinVar Annotator: match by term: Alzheimer's disease
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:16369530 PMID:16921174 PMID:24691562 PMID:30820047 NCBI chr11:25,342,119...25,350,938
Ensembl chr11:25,342,126...25,350,974
JBrowse link
G Adamts5 ADAM metallopeptidase with thrombospondin type 1 motif, 5 ISO ClinVar Annotator: match by term: Alzheimer's disease ClinVar PMID:16369530 PMID:16921174 PMID:24691562 NCBI chr11:25,411,174...25,456,639
Ensembl chr11:25,410,975...25,456,836
JBrowse link
G Adipoq adiponectin, C1Q and collagen domain containing ISO protein:increased expression:plasma
protein:increased expression:cerebrospinal fluid, plasma
RGD PMID:22213409, PMID:20727007 RGD:5686377, RGD:5686881 NCBI chr11:81,330,845...81,344,488
Ensembl chr11:81,330,293...81,344,488
JBrowse link
G Adnp activity-dependent neuroprotector homeobox ISO RGD PMID:18199809, PMID:17720885 RGD:2312791, RGD:2312792 NCBI chr 3:164,937,188...164,964,819
Ensembl chr 3:164,937,198...164,964,702
JBrowse link
G Adra1a adrenoceptor alpha 1A susceptibility ISO RGD PMID:114750 RGD:5688374 NCBI chr15:43,296,997...43,398,314
Ensembl chr15:43,298,794...43,392,451
JBrowse link
G Adrb3 adrenoceptor beta 3 ISO DNA:missense mutation:cds:p.W64R (human) RGD PMID:17440948 RGD:2311642 NCBI chr16:69,003,541...69,006,632
Ensembl chr16:69,003,868...69,006,632
JBrowse link
G Ager advanced glycosylation end product-specific receptor treatment ISO
IDA
IEP
protein:increased expression:brain (human)
mRNA:increased expression:hippocampus, cerebral cortex (mouse)
protein:increased expression:hippocampus (rat)
RGD PMID:8751438, PMID:21593432, PMID:23164356, PMID:23396166, PMID:23396166, PMID:22745485 RGD:1300365, RGD:7245965, RGD:7244287, RGD:7244266, RGD:7244266, RGD:6784502 NCBI chr20:4,363,152...4,366,079
Ensembl chr20:4,363,152...4,366,079
JBrowse link
G Agt angiotensinogen ISO protein:increased expression:cerebrospinal fluid RGD PMID:21297254 RGD:5129180 NCBI chr19:57,321,594...57,333,460
Ensembl chr19:57,321,640...57,333,433
JBrowse link
G Agtr1a angiotensin II receptor, type 1a treatment ISO protein:decreased expression:substantia nigra: RGD PMID:21929736, PMID:8666063 RGD:10047395, RGD:10047397 NCBI chr17:35,907,102...35,958,136
Ensembl chr17:35,907,108...35,958,077
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:2313045, RGD:2313023 NCBI chr20:5,161,350...5,167,176
Ensembl chr20:5,161,333...5,166,448
JBrowse link
G Aifm1 apoptosis inducing factor, mitochondria associated 1 ISO protein:increased expression:cortex,nucleus:
protein:increased expression:basal forebrain,amygdala:
RGD PMID:24915960, PMID:22536549 RGD:10053592, RGD:10053593 NCBI chr  X:135,304,063...135,343,062
Ensembl chr  X:135,304,066...135,343,087
JBrowse link
G Akap5 A-kinase anchoring protein 5 ISO protein:increased expression:cell soma, dendritic arbor (human) RGD PMID:10460255 RGD:2313287 NCBI chr 6:99,356,509...99,361,909
Ensembl chr 6:99,356,509...99,361,909
JBrowse link
G Akr7a2 aldo-keto reductase family 7, member A2 ISO protein:increased expression:superior, middle temporal gyrus; RGD PMID:11597610 RGD:14349051 NCBI chr 5:157,759,448...157,768,473
Ensembl chr 5:157,759,416...157,768,471
JBrowse link
G Akt1 AKT serine/threonine kinase 1 ISO protein:increased tyrosine phosphorylation:cerebral cortex RGD PMID:18023354 RGD:5509085 NCBI chr 6:137,218,398...137,239,970
Ensembl chr 6:137,218,376...137,236,258
JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member onset ISO RGD PMID:15126281 RGD:1599042 NCBI chr12:40,466,418...40,498,813
Ensembl chr12:40,466,495...40,498,752
JBrowse link
G Alox15 arachidonate 15-lipoxygenase ISO protein:increased expression:brain RGD PMID:20570249, PMID:15111312 RGD:5509595, RGD:5509620 NCBI chr10:56,953,692...56,962,145
Ensembl chr10:56,953,691...56,962,161
JBrowse link
G Ambra1 autophagy and beclin 1 regulator 1 ISO RGD PMID:23910655 RGD:14390071 NCBI chr 3:80,634,470...80,830,068
Ensembl chr 3:80,634,470...80,830,068
JBrowse link
G Amfr autocrine motility factor receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:22313999 NCBI chr19:11,473,538...11,509,500
Ensembl chr19:11,473,541...11,508,102
JBrowse link
G Ang angiogenin severity ISO protein:decreased expression:serum RGD PMID:22449478 RGD:6892705 NCBI chr15:28,022,926...28,028,636 JBrowse link
G Anxa5 annexin A5 ISO protein:increased expression:brain, plasma
protein:increased expression: plasma
RGD PMID:20648654, PMID:20648654 RGD:7242030, RGD:7242030 NCBI chr 2:123,162,477...123,194,730
Ensembl chr 2:123,162,461...123,193,130
JBrowse link
G Aoc3 amine oxidase, copper containing 3 severity ISO protein:increased expression:plasma RGD PMID:17393059 RGD:2313919 NCBI chr10:89,251,370...89,259,313
Ensembl chr10:89,251,370...89,259,313
JBrowse link
G Apbb1 amyloid beta precursor protein binding family B member 1 susceptibility
no_association
ISO DNA:mutations::multiple
mRNA:altered expression:brain:
DNA:deletion:intron:
DNA:polymorphism:intron:
RGD PMID:9799084, PMID:10723070, PMID:12727304, PMID:11099823 RGD:2301212, RGD:10054036, RGD:10054031, RGD:10054028 NCBI chr 1:170,387,625...170,411,263
Ensembl chr 1:170,387,609...170,404,056
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 chr14:43,205,047...43,526,968
Ensembl chr14:43,512,901...43,523,080
JBrowse link
G Apc APC regulator of WNT signaling pathway ISO protein:increased expression:astrocyte RGD PMID:11547943 RGD:6484525 NCBI chr18:27,011,710...27,106,323
Ensembl chr18:27,047,382...27,105,531
JBrowse link
G Aph1a aph-1 homolog A, gamma secretase subunit treatment ISO RGD PMID:28588301, PMID:29926633 RGD:13703122, RGD:13703123 NCBI chr 2:198,006,247...198,009,837
Ensembl chr 2:198,006,316...198,009,830
JBrowse link
G Aplp2 amyloid beta precursor like protein 2 IDA RGD PMID:8086458 RGD:734582 NCBI chr 8:32,298,526...32,328,821
Ensembl chr 8:32,298,532...32,328,839
JBrowse link
G Apoa1 apolipoprotein A1 resistance ISO DNA: : :transgenic model RGD PMID:20847045, PMID:19863188 RGD:5508212, RGD:5508218 NCBI chr 8:50,525,091...50,526,875
Ensembl chr 8:50,525,091...50,526,875
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:21356380, PMID:10559562, PMID:9272683, PMID:16013913 RGD:5685638, RGD:5685682, RGD:5685681, RGD:5685661 NCBI chr 8:50,536,983...50,539,371
Ensembl chr 8:50,537,009...50,539,376
JBrowse link
G Apoc1 apolipoprotein C1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29107063 PMID:30319691, PMID:11825674 RGD:1578472 NCBI chr 1:80,606,638...80,609,921
Ensembl chr 1:80,606,638...80,609,921
JBrowse link
G Apod apolipoprotein D ISO protein:increased expression:cerebrospinal fluid, hippocampus RGD PMID:9751198 RGD:2311209 NCBI chr11:72,705,204...72,726,263
Ensembl chr11:72,705,129...72,726,301
JBrowse link
G Apoe apolipoprotein E susceptibility
treatment
no_association
ISO
IEP
ClinVar Annotator: match by term: Late onset Alzheimer disease
DNA:SNP: :APOEe4(human)
CTD Direct Evidence: marker/mechanism
DNA:polymorphism:promoter:-491A>T,-427T>C(human)
protein:increased expression:hippocampus, synapse (rat)
protein:increased expression:parietal cortex, synapse (human)
DNA:missense mutations, haplotype:cds:p.C112R, (rs7412) (human)
ClinVar
CTD
PMID:2987927 PMID:3922972 PMID:7263700 PMID:8346443 PMID:8618665 PMID:8644717 PMID:9343467 PMID:9932938 PMID:10213549 PMID:10799751 PMID:11835377 PMID:11940689 PMID:11940706 PMID:14741101 PMID:15048896 PMID:15184602 PMID:15326261 PMID:15557508 PMID:15668424 PMID:19605830 PMID:19734902 PMID:20819998 PMID:22381401 PMID:23060451 PMID:23296339 PMID:23571587 PMID:24033266 PMID:24162737 PMID:24473795 PMID:25741868 PMID:27023435 PMID:27260402 PMID:29107063 PMID:30311386 PMID:30319691 PMID:30320580, PMID:15118671, PMID:20574532, PMID:20088507, PMID:18057979, PMID:22020632, PMID:22020632, PMID:10027549 RGD:1331525, RGD:10427727, RGD:12904712, RGD:7771594, RGD:6903910, RGD:6903910, RGD:6903233 NCBI chr 1:80,612,894...80,616,820
Ensembl chr 1:80,612,895...80,617,057
JBrowse link
G App amyloid beta precursor protein susceptibility
treatment
ISO
IDA
IEP
human transgene in rat model
ClinVar Annotator: match by term: Early-Onset Familial Alzheimer Disease
ClinVar Annotator: match by term: Alzheimer disease
ClinVar Annotator: match by term: Alzheimer's disease
CTD Direct Evidence: marker/mechanism
associated with hypertension
ClinVar Annotator: match by OMIM:104300
DNA:mutation:p.D678N (human)
protein:increased expression:cerebral spinal fluid fluid,brain:
protein:decreased expression:cerebrospinal fluid:
ClinVar Annotator: match by term: Alzheimer disease, protection against
ClinVar
CTD
PMID:1303239 PMID:1303275 PMID:1307241 PMID:1415269 PMID:1497677 PMID:1520398 PMID:1634237 PMID:1671712 PMID:1678057 PMID:1678058 PMID:1679288 PMID:1908231 PMID:1925564 PMID:7686976 PMID:7806491 PMID:7845465 PMID:8290965 PMID:8291572 PMID:8499923 PMID:8886002 PMID:9754958 PMID:9848098 PMID:10611368 PMID:10821838 PMID:11311152 PMID:11409420 PMID:11441013 PMID:11528419 PMID:11568920 PMID:11735772 PMID:11910111 PMID:11978821 PMID:12192006 PMID:12572668 PMID:12654973 PMID:12746438 PMID:12852432 PMID:15365148 PMID:15488330 PMID:15502844 PMID:15590663 PMID:15591071 PMID:15776278 PMID:15993441 PMID:16204253 PMID:16266835 PMID:16325427 PMID:16369530 PMID:16492752 PMID:16651627 PMID:16921174 PMID:16969627 PMID:17239395 PMID:17430250 PMID:18413473 PMID:18583042 PMID:19281847 PMID:19286555 PMID:19363265 PMID:19818510 PMID:20111991 PMID:20157255 PMID:20228223 PMID:20640797 PMID:21157020 PMID:21209907 PMID:21980910 PMID:22312439 PMID:22503161 PMID:22507317 PMID:22801501 PMID:23224319 PMID:23827522 PMID:24033266 PMID:24524897 PMID:24650794 PMID:24680827 PMID:24691562 PMID:24878480 PMID:25104557 PMID:25138979 PMID:25174650 PMID:25352456 PMID:25604855 PMID:25714973 PMID:25741868 PMID:25948718 PMID:26104569 PMID:26242991 PMID:26402770 PMID:26467025 PMID:26803359 PMID:27000221 PMID:27117003 PMID:27312774 PMID:27838006 PMID:27858710 PMID:28304299 PMID:28350801 PMID:28448946 PMID:28492532 PMID:29263818 PMID:29420472 PMID:29859640 PMID:30279455 PMID:30311386 PMID:30320580, PMID:16369530, PMID:17506994, PMID:30066400, PMID:29174383, PMID:29568075, PMID:29641600, PMID:15201367, PMID:11520987, PMID:11526104, PMID:1677459 RGD:1599199, RGD:2290385, RGD:13782183, RGD:13782049, RGD:13782047, RGD:13782044, RGD:10054280, RGD:1302530, RGD:10054258, RGD:10054257 NCBI chr11:24,425,013...24,641,872
Ensembl chr11:24,425,005...24,641,858
JBrowse link
G Aqp4 aquaporin 4 ISO RGD PMID:21107133 RGD:5148012 NCBI chr18:6,766,009...6,782,757
Ensembl chr18:6,765,945...6,782,996
JBrowse link
G Arc activity-regulated cytoskeleton-associated protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:18503570 NCBI chr 7:115,907,097...115,911,059
Ensembl chr 7:115,907,097...115,910,541
JBrowse link
G Ass1 argininosuccinate synthase 1 ISO protein:increased expression:brain, glial cell (human) RGD PMID:11556547 RGD:4139898 NCBI chr 3:10,327,411...10,375,847
Ensembl chr 3:10,327,414...10,375,826
JBrowse link
G Atf2 activating transcription factor 2 ISO RGD PMID:9138733, PMID:15878807 RGD:10047399, RGD:10047400 NCBI chr 3:60,721,137...60,795,951
Ensembl chr 3:60,721,135...60,795,951
JBrowse link
G Atm ATM serine/threonine kinase disease_progression ISO RGD PMID:23861893 RGD:10047419 NCBI chr 8:58,015,938...58,119,973
Ensembl chr 8:58,015,940...58,120,045
JBrowse link
G Atp5f1a ATP synthase F1 subunit alpha treatment
onset
ISO
IEP
CTD Direct Evidence: marker/mechanism
protein:increased modification:inferior parietal cortex (human)
CTD PMID:19374891, PMID:25561935, PMID:19374891 RGD:13703056, RGD:13703046 NCBI chr18:74,156,553...74,164,490
Ensembl chr18:74,156,553...74,164,495
JBrowse link
G Atp5f1d ATP synthase F1 subunit delta ISO RGD PMID:28474567 RGD:13792588 NCBI chr 7:12,426,807...12,432,120
Ensembl chr 7:12,426,809...12,432,130
JBrowse link
G Atp5mg ATP synthase membrane subunit g ISO RGD PMID:28474567 RGD:13792588 NCBI chr 8:49,220,441...49,227,273
Ensembl chr 8:49,220,443...49,227,273
JBrowse link
G Atp5pf ATP synthase peripheral stalk subunit F6 ISO ClinVar Annotator: match by term: Alzheimer's disease ClinVar PMID:16369530 PMID:16921174 PMID:24691562 NCBI chr11:24,286,806...24,294,419
Ensembl chr11:24,286,787...24,294,179
JBrowse link
G Atp5po ATP synthase peripheral stalk subunit OSCP treatment ISO RGD PMID:30266287, PMID:30266287 RGD:14696823, RGD:14696823 NCBI chr11:32,081,606...32,087,918
Ensembl chr11:32,081,574...32,088,002
JBrowse link
G Atp6v0e1 ATPase H+ transporting V0 subunit e1 ISO RGD PMID:23211594 RGD:10401913 NCBI chr10:16,769,857...16,792,930
Ensembl chr10:16,769,666...16,792,909
JBrowse link
G Atp7a ATPase copper transporting alpha IEP mRNA:decreased expression:pituitary gland, vascular plexus (rat) RGD PMID:20027333 RGD:8657017 NCBI chr  X:77,076,085...77,193,644
Ensembl chr  X:77,076,106...77,193,644
JBrowse link
G Atr ATR serine/threonine kinase ISO RGD PMID:23861893 RGD:10047419 NCBI chr 8:103,673,578...103,770,886
Ensembl chr 8:103,673,411...103,770,947
JBrowse link
G Bace1 beta-secretase 1 susceptibility
treatment
ISO
IEP
CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:12824768 PMID:16407166, PMID:12824768, PMID:28763060, PMID:29038004 RGD:1358439, RGD:1358439, RGD:13782083, RGD:13782077 NCBI chr 8:50,140,092...50,162,388
Ensembl chr 8:50,139,997...50,162,361
JBrowse link
G Bace2 beta-secretase 2 susceptibility ISO mRNA,protein:increased expression:gyrus:
DNA:SNP,haplotype:exon:
RGD PMID:22074738, PMID:16023140 RGD:13782172, RGD:13782180 NCBI chr11:37,798,397...37,880,624
Ensembl chr11:37,798,370...37,880,821
JBrowse link
G Bad BCL2-associated agonist of cell death treatment ISO protein:increased expression:temporal cortex, membrane RGD PMID:15339646, PMID:9507158 RGD:10053639, RGD:10053642 NCBI chr 1:222,198,516...222,207,459
Ensembl chr 1:222,198,534...222,207,453
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 chr10:109,107,326...109,187,458
Ensembl chr10:109,107,389...109,187,115
JBrowse link
G Bak1 BCL2-antagonist/killer 1 ISO protein:increased expression:temporal cortex, membrane RGD PMID:9507158 RGD:10053642 NCBI chr20:5,609,620...5,618,899
Ensembl chr20:5,609,625...5,618,260
JBrowse link
G Barhl1 BarH-like homeobox 1 ISO protein:decreased expression:brain RGD PMID:28956815 RGD:14390165 NCBI chr 3:7,491,234...7,498,555
Ensembl chr 3:7,491,234...7,498,555
JBrowse link
G Bax BCL2 associated X, apoptosis regulator treatment IEP
ISO
CTD Direct Evidence: marker/mechanism CTD PMID:18077176, PMID:17639989, PMID:29587274, PMID:29777699, PMID:21585051, PMID:16265626, PMID:8990132 RGD:2293073, RGD:13782188, RGD:13782186, RGD:10054049, RGD:10054047, RGD:10054039 NCBI chr 1:101,451,801...101,457,207
Ensembl chr 1:101,451,802...101,457,207
JBrowse link
G Bcan brevican ISO protein:altered modification:brain RGD PMID:20180882 RGD:14392785 NCBI chr 2:187,359,674...187,373,133
Ensembl chr 2:187,359,677...187,372,657
JBrowse link
G Bche butyrylcholinesterase severity ISO CTD Direct Evidence: marker/mechanism CTD PMID:23022600, PMID:22012848, PMID:16973370 RGD:5687327, RGD:5688056 NCBI chr 2:171,104,476...171,196,186
Ensembl chr 2:171,100,140...171,196,395
JBrowse link
G Bcl2 BCL2, apoptosis regulator treatment IEP
ISO
IDA
CTD Direct Evidence: marker/mechanism
protein:increased expression:temporal cortex, membrane
CTD PMID:18077176, PMID:17639989, PMID:29587274, PMID:29777699, PMID:26897372, PMID:21585051, PMID:16265626, PMID:9507158 RGD:2293073, RGD:13782188, RGD:13782186, RGD:11522767, RGD:10054049, RGD:10054047, RGD:10053642 NCBI chr13:26,605,426...26,769,374
Ensembl chr13:26,605,426...26,769,374
JBrowse link
G Bcl2l1 Bcl2-like 1 ISO protein:increased expression:temporal cortex, membrane RGD PMID:9507158 RGD:10053642 NCBI chr 3:148,259,594...148,314,191
Ensembl chr 3:148,259,596...148,313,810
JBrowse link
G Bcl2l2 Bcl2-like 2 treatment ISO
IEP
protein:increased expression:hippocampus, cortex RGD PMID:15147516, PMID:20460763 RGD:14394419, RGD:14394421 NCBI chr15:33,543,774...33,549,165
Ensembl chr15:33,544,312...33,549,164
JBrowse link
G Bdnf brain-derived neurotrophic factor treatment
no_association
onset
IMP
ISO
IEP
CTD Direct Evidence: marker/mechanism
DNA:polymorphisms: :196G>A (p.V66M), 270C>T (human)
DNA:polymorphisms, haplotypes: :196G>A (p.V66M), 270C>T, 11757G>C (human)
DNA:polymorphism: :p.V66M (human)
protein:decreased expression:parietal cortex
DNA:SNP:CDS:rs1048218 (human)
CTD PMID:17344400, PMID:20646587, PMID:24877042, PMID:16565926, PMID:23215636, PMID:16627933, PMID:12654514, PMID:18780967, PMID:15118671 RGD:4891131, RGD:10059402, RGD:10059346, RGD:10059345, RGD:10059343, RGD:10058980, RGD:5508228, RGD:1331525 NCBI chr 3:100,768,637...100,819,216
Ensembl chr 3:100,768,637...100,819,210
JBrowse link
G Becn1 beclin 1 ISO protein:decreased expression:gray matter RGD PMID:18497889, PMID:20863706 RGD:6483101, RGD:6483102 NCBI chr10:89,209,944...89,225,297
Ensembl chr10:89,209,940...89,225,297
JBrowse link
G Bin1 bridging integrator 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21460841 NCBI chr18:25,163,575...25,222,139
Ensembl chr18:25,163,561...25,222,135
JBrowse link
G Bmp4 bone morphogenetic protein 4 ISO RGD PMID:19463786 RGD:10414082 NCBI chr15:20,776,060...20,791,013
Ensembl chr15:20,776,054...20,822,740
JBrowse link
G Bptf bromodomain PHD finger transcription factor ISO protein:increased expression:microglia: RGD PMID:9792236 RGD:9586059 NCBI chr10:95,248,573...95,350,162
Ensembl chr10:95,250,294...95,349,789
JBrowse link
G Brip1 BRCA1 interacting protein C-terminal helicase 1 ISO associated with Down Syndrome;protein:increased ubiquitination:frontal cortex (human) RGD PMID:25391381 RGD:11252150 NCBI chr10:73,507,009...73,632,742
Ensembl chr10:73,507,100...73,629,581
JBrowse link
G Btg3 BTG anti-proliferation factor 3 ISO ClinVar Annotator: match by term: Alzheimer's disease ClinVar PMID:16369530 PMID:16921174 PMID:24691562 NCBI chr11:16,873,642...16,889,100
Ensembl chr11:16,873,646...16,889,201
JBrowse link
G C1qb complement C1q B chain ISO mRNA:increased expression:microglial cell RGD PMID:1362796 RGD:1599518 NCBI chr 5:155,246,444...155,251,995
Ensembl chr 5:155,246,447...155,252,003
JBrowse link
G C2 complement C2 ISO DNA:SNP, haplotype: :p.E318D (rs9332739) (human) RGD PMID:22300950 RGD:7401250 NCBI chr20:4,542,340...4,561,152
Ensembl chr20:4,542,340...4,561,152
JBrowse link
G C3 complement C3 ISO DNA:SNP: :rs22300199 (human) RGD PMID:22300950 RGD:7401250 NCBI chr 9:9,721,137...9,747,084
Ensembl chr 9:9,721,105...9,747,167
JBrowse link
G C5ar1 complement C5a receptor 1 ISO protein:decreased expression:brain RGD PMID:12759460 RGD:5130177 NCBI chr 1:78,186,777...78,195,132
Ensembl chr 1:78,186,776...78,195,328
JBrowse link
G Cacna1c calcium voltage-gated channel subunit alpha1 C ISO protein:decreased expression:brain RGD PMID:23403102 RGD:13782264 NCBI chr 4:150,635,808...151,270,790
Ensembl chr 4:150,641,066...150,829,913
JBrowse link
G Calm1 calmodulin 1 ISO CTD Direct Evidence: marker/mechanism
protein:decreased expression:cerebellar cortex:
CTD PMID:11470324, PMID:11470324 RGD:13792493 NCBI chr 6:124,217,241...124,225,292
Ensembl chr 6:124,217,241...124,225,292
JBrowse link
G Calml5 calmodulin-like 5 ISO protein:altered expression:neuron,glia RGD PMID:11470324 RGD:13792493 NCBI chr17:70,044,956...70,045,886 JBrowse link
G Camk2a calcium/calmodulin-dependent protein kinase II alpha ISO RGD PMID:15621017 RGD:13681926 NCBI chr18:56,193,978...56,295,869
Ensembl chr18:56,193,978...56,295,869
JBrowse link
G Capn1 calpain 1 onset ISO protein:increased activity:brain: RGD PMID:8622780, PMID:11231011 RGD:13792495, RGD:13792663 NCBI chr 1:221,346,081...221,370,965
Ensembl chr 1:221,346,066...221,370,322
JBrowse link
G Capn2 calpain 2 ISO protein:increased expression:cytosol RGD PMID:9654354 RGD:13792661 NCBI chr13:100,878,649...100,928,811
Ensembl chr13:100,878,650...100,928,811
JBrowse link
G Casp1 caspase 1 ISO RGD PMID:12633148 RGD:13782269 NCBI chr 8:2,605,743...2,614,637
Ensembl chr 8:2,604,962...2,614,631
JBrowse link
G Casp12 caspase 12 treatment IEP RGD PMID:29126976 RGD:13782165 NCBI chr 8:2,658,892...2,686,160
Ensembl chr 8:2,659,865...2,686,160
JBrowse link
G Casp2 caspase 2 ISO RGD PMID:12633148 RGD:13782269 NCBI chr 4:71,652,358...71,670,228
Ensembl chr 4:71,652,354...71,670,239
JBrowse link
G Casp3 caspase 3 treatment ISO
IEP
CTD Direct Evidence: marker/mechanism CTD PMID:18077176, PMID:10319819, PMID:29642617, PMID:12633148, PMID:29587274, PMID:29777699 RGD:734692, RGD:13782291, RGD:13782269, RGD:13782188, RGD:13782186 NCBI chr16:48,845,011...48,863,249
Ensembl chr16:48,845,012...48,863,204
JBrowse link
G Casp6 caspase 6 ISO RGD PMID:12633148 RGD:13782269 NCBI chr 2:235,341,326...235,353,715
Ensembl chr 2:235,341,365...235,353,967
Ensembl chr 2:235,341,365...235,353,967
JBrowse link
G Casp7 caspase 7 ISO DNA:SNPs, haplotype RGD PMID:26621834, PMID:12633148 RGD:11344490, RGD:13782269 NCBI chr 1:277,190,557...277,242,779
Ensembl chr 1:277,190,964...277,242,774
JBrowse link
G Casp8 caspase 8 treatment ISO
IEP
RGD PMID:16772874, PMID:29642617, PMID:12633148 RGD:13782268, RGD:13782291, RGD:13782269 NCBI chr 9:65,614,142...65,662,624
Ensembl chr 9:65,614,142...65,662,106
JBrowse link
G Casp9 caspase 9 treatment IEP
ISO
RGD PMID:29777699, PMID:12633148 RGD:13782186, RGD:13782269 NCBI chr 5:160,356,211...160,373,774
Ensembl chr 5:160,355,833...160,373,778
JBrowse link
G Cass4 Cas scaffold protein family member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30320580 NCBI chr 3:170,398,496...170,438,381
Ensembl chr 3:170,399,302...170,438,993
JBrowse link
G Cast calpastatin ISO protein:decreased expression:brain RGD PMID:20595388, PMID:19020018 RGD:5509799, RGD:5509809 NCBI chr 2:1,452,111...1,561,669
Ensembl chr 2:1,452,116...1,561,464
JBrowse link
G Cav1 caveolin 1 ISS OMIM:104300 | OMIM:502500 | OMIM:604154 | OMIM:608907 MouseDO NCBI chr 4:44,597,123...44,630,206
Ensembl chr 4:44,597,123...44,630,200
JBrowse link
G Ccl5 C-C motif chemokine ligand 5 ISO mRNA:increased expression:cerebrum, blood vessels (human) RGD PMID:18440671 RGD:4890025 NCBI chr10:70,739,764...70,744,303
Ensembl chr10:70,739,800...70,744,315
JBrowse link
G Ccng1 cyclin G1 ISO protein:increased expression:brain, neuron RGD PMID:12214116 RGD:2316025 NCBI chr10:25,903,925...25,910,298
Ensembl chr10:25,903,911...25,910,325
JBrowse link
G Ccr1 C-C motif chemokine receptor 1 severity ISO RGD PMID:14595653 RGD:5688166 NCBI chr 8:132,996,646...133,002,201
Ensembl chr 8:132,996,649...133,002,201
JBrowse link
G Ccr5 C-C motif chemokine receptor 5 ISO
IMP
protein:increased expression:brain, microglia (human) RGD PMID:9665462, PMID:15979806 RGD:4890447, RGD:4890446 NCBI chr 8:133,192,398...133,215,599
Ensembl chr 8:133,197,032...133,215,614
JBrowse link
G Cd2ap CD2-associated protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:21460840 PMID:21460841 PMID:30320580 NCBI chr 9:20,794,680...20,858,438
Ensembl chr 9:20,765,296...20,858,504
JBrowse link
G Cd33 CD33 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:21460840 PMID:21460841 NCBI chr 1:98,388,811...98,403,539
Ensembl chr 1:98,398,660...98,402,968
JBrowse link
G Cd36 CD36 molecule ISO RGD PMID:16563568 RGD:6893531 NCBI chr 4:14,150,309...14,191,498
Ensembl chr 4:14,001,761...14,249,749
JBrowse link
G Cd40 CD40 molecule ISO RGD PMID:21414686 RGD:5490302 NCBI chr 3:161,519,789...161,534,943
Ensembl chr 3:161,519,743...161,534,704
JBrowse link
G Cd40lg CD40 ligand ISO protein:increased expression:frontal cortex, astrocyte RGD PMID:11755016, PMID:11755016 RGD:8547803, RGD:8547803 NCBI chr  X:159,703,703...159,714,886
Ensembl chr  X:159,703,578...159,716,562
JBrowse link
G Cdc42 cell division cycle 42 ISO RGD PMID:10817927 RGD:5688277 NCBI chr 5:155,690,267...155,728,385
Ensembl chr 5:155,691,390...155,728,300
JBrowse link
G Cdk5 cyclin-dependent kinase 5 treatment IEP
ISO
DNA:SNP:intron:g.149800G>C (human) RGD PMID:28269780, PMID:28085018, PMID:15917097 RGD:13508590, RGD:13792587, RGD:13782365 NCBI chr 4:7,282,945...7,287,427
Ensembl chr 4:7,282,948...7,288,383
JBrowse link
G Cdk5r1 cyclin-dependent kinase 5 regulatory subunit 1 ISO DNA:SNP:3' UTR:rs735555 (human) RGD PMID:28578378, PMID:19154537, PMID:24725413 RGD:13782362, RGD:13782364, RGD:13782363 NCBI chr10:67,862,054...67,863,255
Ensembl chr10:67,862,054...67,863,255
JBrowse link
G Cdk7 cyclin-dependent kinase 7 ISO protein:increased expression:neuron: RGD PMID:11124424 RGD:10059352 NCBI chr 2:30,710,642...30,735,522
Ensembl chr 2:30,710,643...30,735,514
JBrowse link
G Cebpa CCAAT/enhancer binding protein alpha ISO protein:decreased expression:forebrain, hindbrain (mouse)
mRNA:increased expression:hippocampus (human)
RGD PMID:21492414, PMID:14769913 RGD:10401190, RGD:10401224 NCBI chr 1:91,363,492...91,366,164
Ensembl chr 1:91,363,492...91,366,164
JBrowse link
G Cebpb CCAAT/enhancer binding protein beta treatment ISO mRNA:increased expression:hippocampus CA1 (human) RGD PMID:12391607, PMID:23911420 RGD:10401229, RGD:10401268 NCBI chr 3:164,424,502...164,425,933
Ensembl chr 3:164,424,515...164,425,910
JBrowse link
G Cftr CF transmembrane conductance regulator ISO protein:decreased expression:hypothalamus RGD PMID:14757935 RGD:11566025 NCBI chr 4:42,693,263...42,860,679
Ensembl chr 4:42,692,836...42,860,676
JBrowse link
G Chat choline O-acetyltransferase IEP
ISO
DNA:polymorphism:CDS:4G>A (human) RGD PMID:16834974, PMID:12401548 RGD:1600851, RGD:1358495 NCBI chr16:8,576,858...8,686,131
Ensembl chr16:8,577,840...8,686,131
JBrowse link
G Chodl chondrolectin ISO ClinVar Annotator: match by term: Alzheimer's disease ClinVar PMID:16369530 PMID:16921174 PMID:24691562 NCBI chr11:17,537,980...17,560,305
Ensembl chr11:17,538,063...17,560,296
JBrowse link
G Chrna4 cholinergic receptor nicotinic alpha 4 subunit ISO RGD PMID:15465084 RGD:1358509 NCBI chr 3:176,533,182...176,547,965
Ensembl chr 3:176,527,516...176,548,208
JBrowse link
G Chrna7 cholinergic receptor nicotinic alpha 7 subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:18071042, PMID:15465084 RGD:1358509 NCBI chr 1:123,897,341...124,039,263
Ensembl chr 1:123,899,657...124,039,196
JBrowse link
G Chrnb2 cholinergic receptor nicotinic beta 2 subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:17192785 NCBI chr 2:189,088,570...189,096,785
Ensembl chr 2:189,088,570...189,096,785
JBrowse link
G Cib1 calcium and integrin binding 1 IEP protein:decreased expression:brain (human) RGD PMID:15885068 RGD:10401854 NCBI chr 1:142,014,962...142,020,461
Ensembl chr 1:142,014,958...142,020,525
JBrowse link
G Clock clock circadian regulator susceptibility ISO DNA:snp:intron:c.982+247G>C (rs1554483) (human)
DNA:snp:3' utr:c.3111T>C (human)
DNA:snp:intron:c.560-1279C>G (rs4580704) (human)
RGD PMID:23781009, PMID:23912676, PMID:23357097 RGD:10401861, RGD:10401872, RGD:10401862 NCBI chr14:34,418,226...34,502,218
Ensembl chr14:34,446,616...34,502,218
JBrowse link
G Clu clusterin ISO ClinVar Annotator: match by term: Alzheimer's disease
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:19734902 PMID:19734903 PMID:21460841 PMID:28492532 PMID:29476165, PMID:9560017 RGD:8903235 NCBI chr15:42,626,612...42,665,858
Ensembl chr15:42,640,146...42,665,857
JBrowse link
G Cnp 2',3'-cyclic nucleotide 3' phosphodiesterase ISO RGD PMID:21918687 RGD:6483333 NCBI chr10:88,490,798...88,497,357
Ensembl chr10:88,490,798...88,497,356
JBrowse link
G Cox7c cytochrome c oxidase subunit 7C ISO RGD PMID:28474567 RGD:13792588 NCBI chr 2:14,699,878...14,701,903
Ensembl chr 2:14,699,882...14,701,903
JBrowse link
G Crebbp CREB binding protein treatment ISO protein:increased phosphorylation:hippocampus: RGD PMID:21149712, PMID:17760871 RGD:10059608, RGD:10059609 NCBI chr10:11,590,994...11,721,039
Ensembl chr10:11,595,044...11,721,039
JBrowse link
G Crh corticotropin releasing hormone ISO protein:decreased expression:cerebral cortex (human)
CTD Direct Evidence: therapeutic
CTD PMID:7477348, PMID:7477348 RGD:5508831 NCBI chr 2:104,459,999...104,461,863
Ensembl chr 2:104,459,999...104,461,863
JBrowse link
G Crp C-reactive protein ISO RGD PMID:22202667 RGD:6904208 NCBI chr13:91,080,448...91,081,358
Ensembl chr13:91,054,974...91,093,713
JBrowse link
G Csf1r colony stimulating factor 1 receptor ISO ClinVar Annotator: match by term: Alzheimer's disease ClinVar PMID:30279455 NCBI chr18:56,414,493...56,458,300
Ensembl chr18:56,414,488...56,458,300
JBrowse link
G Csnk1a1 casein kinase 1, alpha 1 ISO protein:increased expression:CA1 field of hippocampus: RGD PMID:10514399 RGD:10395229 NCBI chr18:56,887,722...56,910,610
Ensembl chr18:56,887,354...56,918,345
JBrowse link
G Csnk1d casein kinase 1, delta severity ISO protein:increased expression:CA1 field of hippocampus:
mRNA,protein:increased expression:brain:
RGD PMID:10514399, PMID:10814741 RGD:10395229, RGD:10395230 NCBI chr10:110,147,786...110,182,413
Ensembl chr10:110,148,600...110,182,408
JBrowse link
G Csnk1e casein kinase 1, epsilon ISO protein:increased expression:CA1 field of hippocampus: RGD PMID:10514399 RGD:10395229 NCBI chr 7:120,651,976...120,675,559
Ensembl chr 7:120,651,881...120,672,359
JBrowse link
G Cst3 cystatin C susceptibility ISO protein:decreased expression:serum (human)
protein:increased expression:plasma
CTD Direct Evidence: marker/mechanism|therapeutic
CTD PMID:17192785 PMID:18026100, PMID:18824671, PMID:15907478 RGD:2314333, RGD:1358533 NCBI chr 3:143,219,671...143,223,544
Ensembl chr 3:143,219,686...143,223,615
JBrowse link
G Ctnnb1 catenin beta 1 treatment ISO
IEP
protein:increased expression:neuron,cytoplasm:
protein:decreased expression:hippocampus
protein:decreased expression:nucleus:
RGD PMID:15781969, PMID:12610652, PMID:11226152 RGD:10395258, RGD:10395276, RGD:1302533 NCBI chr 8:129,601,511...129,628,378
Ensembl chr 8:129,617,812...129,627,372
JBrowse link
G Ctsd cathepsin D ISO RGD PMID:11304834 RGD:1358532 NCBI chr 1:215,541,570...215,553,446
Ensembl chr 1:215,541,542...215,553,451
JBrowse link
G Ctss cathepsin S ISO RGD PMID:7717452 RGD:5686914 NCBI chr 2:197,655,780...197,679,768
Ensembl chr 2:197,655,786...197,679,458
JBrowse link
G Cxadr CXADR, Ig-like cell adhesion molecule ISO ClinVar Annotator: match by term: Alzheimer's disease ClinVar PMID:16369530 PMID:16921174 PMID:24691562 NCBI chr11:16,826,269...16,873,564
Ensembl chr11:16,826,399...16,873,562
JBrowse link
G Cyp19a1 cytochrome P450, family 19, subfamily a, polypeptide 1 ISO mRNA:altered expression:cerebellum, hippocampus (human)
DNA:polymorphism
RGD PMID:18180323, PMID:16882736 RGD:4889108, RGD:1600861 NCBI chr 8:58,744,849...58,772,408
Ensembl chr 8:58,744,849...58,772,408
JBrowse link
G Cyp2d4 cytochrome P450, family 2, subfamily d, polypeptide 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:7574463 NCBI chr 7:123,599,264...123,608,436
Ensembl chr 7:123,599,266...123,608,436
JBrowse link
G Cyp46a1 cytochrome P450, family 46, subfamily a, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19286353, PMID:12232784 RGD:1358575 NCBI chr 6:132,242,328...132,273,788
Ensembl chr 6:132,242,328...132,273,787
JBrowse link
G Cyyr1 cysteine and tyrosine rich 1 ISO ClinVar Annotator: match by term: Alzheimer's disease ClinVar PMID:16369530 PMID:16921174 PMID:24691562 NCBI chr11:24,967,936...25,078,740
Ensembl chr11:24,967,937...25,078,740
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:18338803, PMID:17912741 RGD:10395286, RGD:10398821, RGD:10398820 NCBI chr17:9,679,511...9,693,878
Ensembl chr17:9,679,628...9,693,820
JBrowse link
G Dhcr24 24-dehydrocholesterol reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23042211 NCBI chr 5:126,164,708...126,188,926
Ensembl chr 5:126,164,674...126,191,206
JBrowse link
G Dlg4 discs large MAGUK scaffold protein 4 ISO RGD PMID:24156266 RGD:13792688 NCBI chr10:56,625,845...56,655,543
Ensembl chr10:56,627,411...56,653,599
JBrowse link
G Dlst dihydrolipoamide S-succinyltransferase susceptibility ISO DNA:polymorphisms: : RGD PMID:10227647 RGD:1358587 NCBI chr 6:108,936,534...108,961,322
Ensembl chr 6:108,936,664...108,959,803
JBrowse link
G Dnm1 dynamin 1 ISO
IEP
protein:decreased expression:hippocampus,entorhinal cortex:
mRNA,protein:decreased expression:hippocampus, temporal cortex
denntate gyrus, hippocampus, entorhinal cortex
RGD PMID:20847448, PMID:20847448, PMID:20847448 RGD:13506238, RGD:13506238, RGD:13506238 NCBI chr 3:11,338,081...11,382,043
Ensembl chr 3:11,338,083...11,382,043
JBrowse link
G Dnm1l dynamin 1-like ISO protein:decreased expression:hippocampus (human) RGD PMID:19605646 RGD:7800727 NCBI chr11:88,830,968...88,882,271
Ensembl chr11:88,830,957...88,880,198
JBrowse link
G Dpysl2 dihydropyrimidinase-like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19374891 NCBI chr15:43,475,640...43,581,725
Ensembl chr15:43,477,629...43,542,939
JBrowse link
G Drd1 dopamine receptor D1 ISO protein:decreased expression:frontal cortex, neuron RGD PMID:17182012 RGD:5686412 NCBI chr17:11,099,736...11,104,352
Ensembl chr17:11,101,306...11,103,541
JBrowse link
G Drd2 dopamine receptor D2 ISO protein:decreased expression:blood, lymphocyte RGD PMID:11087905 RGD:5686416 NCBI chr 8:53,678,777...53,743,643
Ensembl chr 8:53,678,777...53,743,642
JBrowse link
G Drd3 dopamine receptor D3 ISO protein:decreased expression:frontal cortex, neuron RGD PMID:17182012 RGD:5686412 NCBI chr11:61,819,102...61,883,223
Ensembl chr11:61,822,077...61,874,327
JBrowse link
G Drd4 dopamine receptor D4 ISO protein:decreased expression:frontal cortex, neuron RGD PMID:17182012 RGD:5686412 NCBI chr 1:214,278,296...214,282,818
Ensembl chr 1:214,278,296...214,281,483
JBrowse link
G Drd5 dopamine receptor D5 ISO protein:increased expression:frontal cortex, neuron RGD PMID:17182012 RGD:5686412 NCBI chr14:77,220,579...77,222,006
Ensembl chr14:77,220,579...77,222,006
JBrowse link
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 ISO protein:increased expression:brain RGD PMID:9402150 RGD:13207349 NCBI chr 6:134,958,854...135,085,769
Ensembl chr 6:134,958,854...135,085,769
JBrowse link
G E2f1 E2F transcription factor 1 ISO protein:increased expression:cerebral cortex,cytoplasm: RGD PMID:11939591 RGD:10401093 NCBI chr 3:150,062,895...150,073,721
Ensembl chr 3:150,047,826...150,073,721
JBrowse link
G Ece1 endothelin converting enzyme 1 ISO RGD PMID:15340356 RGD:1580902 NCBI chr 5:156,215,469...156,318,652
Ensembl chr 5:156,215,417...156,318,671
JBrowse link
G Eef1a2 eukaryotic translation elongation factor 1 alpha 2 ISO protein:increased expression:CA1field of hippocampus: RGD PMID:8750861 RGD:10401216 NCBI chr 3:176,657,104...176,666,282
Ensembl chr 3:176,657,107...176,666,282
JBrowse link
G Eef2 eukaryotic translation elongation factor 2 ISO protein:hyperphosphorylation:brain: RGD PMID:1331687 RGD:10401652 NCBI chr 7:11,401,501...11,406,771
Ensembl chr 7:11,401,501...11,406,771
JBrowse link
G Eef2k eukaryotic elongation factor-2 kinase ISO RGD PMID:16098202 RGD:10401651 NCBI chr 1:190,780,211...190,839,926
Ensembl chr 1:190,780,236...190,842,324
JBrowse link
G Egf epidermal growth factor ISO protein:decreased expression:platelet RGD PMID:21875409 RGD:10059680 NCBI chr 2:68,820,616...68,895,537 JBrowse link
G Egfr epidermal growth factor receptor treatment ISO RGD PMID:23019586 RGD:10059684 NCBI chr14:99,919,485...100,104,136
Ensembl chr14:99,919,485...100,098,796
JBrowse link
G Egr1 early growth response 1 treatment ISO protein:increased expression:temporal cortex, hippocampus (human) RGD PMID:21489990, PMID:23642031, PMID:21969301 RGD:5131647, RGD:10395279, RGD:10395277 NCBI chr18:27,657,903...27,660,101
Ensembl chr18:27,657,628...27,661,429
JBrowse link
G Eif2ak2 eukaryotic translation initiation factor 2-alpha kinase 2 ISO protein:increased threonine phosphorylation:hippocampus RGD PMID:24315369, PMID:15567511 RGD:10395344, RGD:10395348 NCBI chr 6:1,428,845...1,466,193
Ensembl chr 6:1,428,834...1,466,201
JBrowse link
G Eif2s1 eukaryotic translation initiation factor 2 subunit alpha severity ISO CTD Direct Evidence: marker/mechanism
protein:increased phosphorylation:hippocampus
CTD PMID:17406652, PMID:16691116, PMID:24315369, PMID:16954686 RGD:10395316, RGD:10395344, RGD:10395343 NCBI chr 6:102,048,372...102,073,041
Ensembl chr 6:102,048,372...102,073,041
JBrowse link
G Elk1 ETS transcription factor ELK1 ISO RGD PMID:20126313 RGD:7488914 NCBI chr  X:1,287,875...1,304,822
Ensembl chr  X:1,297,099...1,304,822
JBrowse link
G Eno1 enolase 1 ISO CTD Direct Evidence: marker/mechanism
protein:increased S-glutathionylation, decreased activity:inferior parietal cortex
CTD PMID:19374891, PMID:17387692 RGD:13792613 NCBI chr 5:167,288,223...167,299,610
Ensembl chr 5:167,288,223...167,299,609
JBrowse link
G Ep300 E1A binding protein p300 ISO mRNA:increased expression:temporal cortex (human) RGD PMID:23585551 RGD:7327146 NCBI chr 7:122,818,194...122,889,055
Ensembl chr 7:122,818,975...122,861,296
JBrowse link
G Epha1 Eph receptor A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21460840 PMID:21460841 NCBI chr 4:71,749,100...71,763,681
Ensembl chr 4:71,749,242...71,763,679
JBrowse link
G Epha4 Eph receptor A4 ISO protein:decreased expression:hippocampus RGD PMID:19542617, PMID:19542617 RGD:6218956, RGD:6218956 NCBI chr 9:83,111,222...83,253,486
Ensembl chr 9:83,111,222...83,253,458
JBrowse link
G Ephx1 epoxide hydrolase 1 ISO protein:increased expression:hippocampus RGD PMID:16630050 RGD:5688388 NCBI chr13:99,271,390...99,300,580
Ensembl chr13:99,271,366...99,300,579
JBrowse link
G Epo erythropoietin treatment ISO RGD PMID:22004348, PMID:23813967 RGD:10395389, RGD:10400882 NCBI chr12:22,274,828...22,278,268
Ensembl chr12:22,274,828...22,278,266
JBrowse link
G Epor erythropoietin receptor ISO protein:increased expression:brain, astrocyte RGD PMID:17483696 RGD:10395387 NCBI chr 8:22,969,737...22,974,468
Ensembl chr 8:22,969,745...22,974,321
JBrowse link
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit ISO protein:increased expression:brain RGD PMID:9714461 RGD:5688738 NCBI chr 1:80,293,574...80,307,334
Ensembl chr 1:80,293,566...80,307,344
JBrowse link
G Ercc3 ERCC excision repair 3, TFIIH core complex helicase subunit ISO protein:increased expression:brain RGD PMID:9714461 RGD:5688738 NCBI chr18:25,037,668...25,068,380
Ensembl chr18:25,037,625...25,068,389
JBrowse link
G Esr1 estrogen receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17192785, PMID:10558867 RGD:1358612 NCBI chr 1:41,192,029...41,594,799
Ensembl chr 1:41,192,824...41,594,796
JBrowse link
G Esr2 estrogen receptor 2 susceptibility ISO DNA:SNPs:3' utr: (rs4986938), (rs1255953) (human)
DNA:snps:introns:IVS3-1880C>T, IVS4+1231C>T (rs1271573, rs1256043) (human)
protein:decreased expression:choroid plexus
mRNA:increased expression:cerebral cortex
RGD PMID:17132983, PMID:15944651, PMID:15082146, PMID:15916731 RGD:5508768, RGD:8693346, RGD:5508784, RGD:5508772 NCBI chr 6:99,163,953...99,214,711
Ensembl chr 6:99,164,357...99,214,251
JBrowse link
G F2 coagulation factor II ISO CTD Direct Evidence: marker/mechanism CTD PMID:8333868 NCBI chr 3:80,529,468...80,542,993
Ensembl chr 3:80,529,428...80,543,031
JBrowse link
G Fabp3 fatty acid binding protein 3 ISO protein:decreased expression:cerebral cortex (human) RGD PMID:15068254 RGD:1578460 NCBI chr 5:148,528,854...148,535,597
Ensembl chr 5:148,528,725...148,535,565
JBrowse link
G Fadd Fas associated via death domain ISO RGD PMID:16085017 RGD:13782385 NCBI chr 1:217,746,176...217,748,581
Ensembl chr 1:217,742,929...217,748,628
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 chr 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790
JBrowse link
G Fgf1 fibroblast growth factor 1 ISO RGD PMID:20079650 RGD:5509878 NCBI chr18:32,273,830...32,359,831
Ensembl chr18:32,273,770...32,359,824
JBrowse link
G Fgfr1 Fibroblast growth factor receptor 1 ISO RGD PMID:9748519 RGD:10402073 NCBI chr16:71,265,390...71,319,046
Ensembl chr16:71,266,248...71,319,449
JBrowse link
G Fis1 fission, mitochondrial 1 ISO protein:increased expression:hippocampus (human) RGD PMID:19605646 RGD:7800727 NCBI chr12:22,750,485...22,765,324
Ensembl chr12:22,750,485...22,765,308
JBrowse link
G Foxo3 forkhead box O3 ISO protein:increased expression:lymphoblast,nucleus:
mRNA:increased expression:brain:
protein:altered expression:cortical neuron,nucleus:
RGD PMID:23153928, PMID:23585551, PMID:23661003 RGD:10402185, RGD:7327146, RGD:10402187 NCBI chr20:46,428,078...46,519,156
Ensembl chr20:46,428,124...46,519,144
JBrowse link
G Fxyd6 FXYD domain-containing ion transport regulator 6 ISO RGD PMID:19760337 RGD:13801191 NCBI chr 8:49,676,520...49,703,419
Ensembl chr 8:49,676,540...49,703,419
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 chr20:44,436,354...44,630,316
Ensembl chr20:44,436,403...44,630,317
JBrowse link
G Gabpa GA binding protein transcription factor subunit alpha ISO ClinVar Annotator: match by term: Alzheimer's disease ClinVar PMID:16369530 PMID:16921174 PMID:24691562 NCBI chr11:24,293,845...24,322,822
Ensembl chr11:24,263,281...24,322,815
JBrowse link
G Gapdh glyceraldehyde-3-phosphate dehydrogenase onset
susceptibility
ISO
IDA
DNA:snps:5' utr, intron: (rs3741916, rs1060621) (human)
protein:decreased activity:cerebral cortex, cerebellum
protein:decreased activity:cerebral cortex, hippocampus
protein:increased S-glutathionylation, decreased activity:inferior parietal cortex
DNA:SNPs, haplotypes: :rs740850, rs1060620 (human)
DNA:SNP:5' utr:rs3741916 (human)
RGD PMID:15507493, PMID:17324518, PMID:17324518, PMID:17387692, PMID:18340469, PMID:20864222, PMID:28087189 RGD:1358618, RGD:13792614, RGD:13792614, RGD:13792613, RGD:13792612, RGD:13792611, RGD:13792604 NCBI chr 4:157,676,336...157,680,322
Ensembl chr 4:157,676,595...157,679,962
JBrowse link
G Gapdhs glyceraldehyde-3-phosphate dehydrogenase, spermatogenic onset ISO DNA:snps:promoter, intron: (rs4806173, rs12984928) (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:17192785, PMID:15507493 RGD:1358618 NCBI chr 1:89,180,063...89,195,347
Ensembl chr 1:89,180,063...89,194,602
JBrowse link
G Gcg glucagon ISO RGD PMID:23035082 RGD:10402366 NCBI chr 3:48,442,635...48,451,650
Ensembl chr 3:48,442,635...48,451,650
JBrowse link
G Gdnf glial cell derived neurotrophic factor ISO mRNA, protein:alternate form, decreased expression:brain RGD PMID:22081608 RGD:5688777 NCBI chr 2:56,884,181...56,912,964
Ensembl chr 2:56,887,987...56,910,238
JBrowse link
G Ghrh growth hormone releasing hormone treatment ISO RGD PMID:23211425 RGD:10401233 NCBI chr 3:153,449,124...153,468,794
Ensembl chr 3:153,449,125...153,468,794
JBrowse link
G Glud1 glutamate dehydrogenase 1 ISO protein:increased expression:brain
protein:increased expression, decreased oxidation:brain
RGD PMID:16341942, PMID:16298240 RGD:6484555, RGD:6484556 NCBI chr16:10,661,486...10,695,557
Ensembl chr16:10,662,021...10,695,557
JBrowse link
G Glul glutamate-ammonia ligase ISO protein:increased oxidation:brain (human)
protein:increased expression:cerebrospinal fluid:significant increase in active protein vs normal patients and controls with other neurological disorders (human)
RGD PMID:12160938, PMID:1361232 RGD:2301427, RGD:2301429 NCBI chr13:71,331,052...71,340,207
Ensembl chr13:71,331,052...71,340,229
JBrowse link
G Gnas GNAS complex locus ISO RGD PMID:8012802 RGD:10401266 NCBI chr 3:172,374,957...172,434,988
Ensembl chr 3:172,374,957...172,428,483
Ensembl chr 3:172,374,957...172,428,483
JBrowse link
G Grin1 glutamate ionotropic receptor NMDA type subunit 1 ISO RGD PMID:24156266 RGD:13792688 NCBI chr 3:2,507,745...2,534,664
Ensembl chr 3:2,506,896...2,534,663
JBrowse link
G Grin2a glutamate ionotropic receptor NMDA type subunit 2A ISO RGD PMID:24156266 RGD:13792688 NCBI chr10:5,707,806...6,123,568
Ensembl chr10:5,930,298...6,119,990
JBrowse link
G Grin2b glutamate ionotropic receptor NMDA type subunit 2B no_association ISO DNA:SNPs:promoter, exon, 3' utr:-200T>G (rs1019385), 2664C>T (rs1806201), 5072G>T (rs890) (human)
DNA:SNPs:promoter:-200T>G (rs1019385), -1447T>C, -1497G>A (rs12368476) (human)
DNA:SNP:promoter:-421C>A (rs3764028) (human)
DNA:SNP: :2664C>T (rs1806201) (human)
DNA:SNP, haplotype: :rs1806201 (human)
RGD PMID:24156266, PMID:18303265, PMID:18983893, PMID:18983893, PMID:24292895, PMID:24292895 RGD:13792688, RGD:13792714, RGD:13792713, RGD:13792713, RGD:13792709, RGD:13792709 NCBI chr 4:169,541,620...170,000,216
Ensembl chr 4:169,560,387...169,999,873
JBrowse link
G Grk5 G protein-coupled receptor kinase 5 ISO DNA: deletion: exons 7,8: heterozygote RGD PMID:18522748 RGD:5688375 NCBI chr 1:282,265,371...282,467,842
Ensembl chr 1:282,265,370...282,462,605
JBrowse link
G Grn granulin precursor severity
onset
ISO DNA:SNP:3'UTR:rs5848(human)
ClinVar Annotator: match by term: Alzheimer's disease
DNA:SNPs: :rs5848, rs850713, rs4792939 (human)
DNA:mutations: :
mRNA, protein:increased expression:microglia, neuron:
DNA:deletion:exon:c.154delA(human)
ClinVar PMID:30279455, PMID:20197700, PMID:19016491, PMID:18565828, PMID:19557827, PMID:20142525 RGD:5509600, RGD:10401636, RGD:5509616, RGD:5509606, RGD:5509601 NCBI chr10:90,377,103...90,383,207
Ensembl chr10:90,376,933...90,383,205
JBrowse link
G Gsk3a glycogen synthase kinase 3 alpha treatment ISO RGD PMID:18410522, PMID:22623685 RGD:10401797, RGD:10401801 NCBI chr 1:82,097,244...82,108,238
Ensembl chr 1:82,097,247...82,108,203
JBrowse link
G Gsk3b glycogen synthase kinase 3 beta treatment ISO
IDA
DNA:SNP:promoter:rs334558 (human)
CTD Direct Evidence: marker/mechanism
protein:decreased phosphorylation:hippocampus:
DNA:altered methylation:CpG island:
CTD PMID:17409235 PMID:22944069, PMID:11226152, PMID:29257340, PMID:27893738, PMID:19154537, PMID:22623685, PMID:22982863, PMID:22048123, PMID:24101602 RGD:1302533, RGD:13792777, RGD:13792736, RGD:13782364, RGD:10401801, RGD:10045670, RGD:10045669, RGD:10045668 NCBI chr11:65,060,884...65,208,842
Ensembl chr11:65,066,235...65,209,268
JBrowse link
G Gsr glutathione-disulfide reductase treatment ISO
IEP
protein:decreased expression:blood
mRNA:increased expression:hippocampus
RGD PMID:17721818, PMID:21376020, PMID:19374888, PMID:10096042 RGD:10401827, RGD:10401857, RGD:10401849, RGD:10401847 NCBI chr16:62,197,617...62,239,987
Ensembl chr16:62,197,617...62,241,361
JBrowse link
G Gss glutathione synthetase ISO RGD PMID:15693022 RGD:5508441 NCBI chr 3:151,076,254...151,106,557
Ensembl chr 3:151,076,254...151,106,557
JBrowse link
G Gstm3 glutathione S-transferase mu 3 ISO RGD PMID:15621212 RGD:5688745 NCBI chr 2:210,685,204...210,688,273
Ensembl chr 2:210,685,197...210,688,272
JBrowse link
G Gstm5 glutathione S-transferase, mu 5 ISO DNA:SNP:cds: rs7483 (human) RGD PMID:18423940 RGD:5688729 NCBI chr 2:210,685,338...210,688,133
Ensembl chr 2:210,685,197...210,688,272
JBrowse link
G Gsto1 glutathione S-transferase omega 1 onset
susceptibility
no_association
ISO DNA:polymorphism:exon:p. A140D (rs4925) (human) RGD PMID:14570706, PMID:20818931, PMID:15917099 RGD:1358651, RGD:5490521, RGD:5490514 NCBI chr 1:267,607,437...267,617,387
Ensembl chr 1:267,607,418...267,617,387
JBrowse link
G Gsto2 glutathione S-transferase omega 2 onset
no_association
ISO DDNA:polymorphism: : -183 A>G (rs2297235)(human)
DNA:polymorphism:promoter: -183 A>G (rs2297235)(human)
RGD PMID:14570706, PMID:15917099 RGD:1358651, RGD:5490514 NCBI chr 1:267,617,517...267,640,455
Ensembl chr 1:271,229,036...271,243,517
Ensembl chr 1:271,229,036...271,243,517
JBrowse link
G Gstp1 glutathione S-transferase pi 1 susceptibility
onset
ISO mRNA:decreased expression:cerebral cortex
DNA:polymorphisms
DNA:polymorphism:exon:
RGD PMID:15805147, PMID:23211594, PMID:24584466, PMID:17911365 RGD:5490123, RGD:10401913, RGD:10401912, RGD:5490271 NCBI chr 1:219,291,679...219,294,147
Ensembl chr 1:219,291,679...219,294,147
JBrowse link
G Gstt1 glutathione S-transferase theta 1 susceptibility
onset
ISO DNA:deletion: : RGD PMID:10215103, PMID:17911365 RGD:5490213, RGD:5490271 NCBI chr20:13,799,102...13,816,527
Ensembl chr20:13,799,102...13,816,526
JBrowse link
G Gucy1b1 guanylate cyclase 1 soluble subunit beta 1 ISO RGD PMID:15571982 RGD:10401946 NCBI chr 2:180,976,939...181,026,001
Ensembl chr 2:180,976,939...181,026,024
JBrowse link
G Hadha hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha ISO protein:decreased expression:brain RGD PMID:25260493 RGD:10047114 NCBI chr 6:27,589,840...27,628,921
Ensembl chr 6:27,589,657...27,629,175
JBrowse link
G Hadhb hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta ISO RGD PMID:11430884 RGD:1600786 NCBI chr 6:27,555,408...27,589,539
Ensembl chr 6:27,555,412...27,582,995
JBrowse link
G Hba-a1 hemoglobin alpha, adult chain 1 IEP RGD PMID:21428213 RGD:10450508 NCBI chr10:15,602,794...15,603,649
Ensembl chr10:15,602,794...15,603,649
JBrowse link
G Hdac2 histone deacetylase 2 ISO protein:increased expression:hippocampus: RGD PMID:22388814 RGD:9590324 NCBI chr20:43,084,870...43,108,198
Ensembl chr20:43,084,870...43,108,198
JBrowse link
G Hfe homeostatic iron regulator ISO with Tf C2 variant;DNA:missense mutation:cds:p.C282Y (human)
ClinVar Annotator: match by term: Alzheimer disease, susceptibility to
ClinVar Annotator: match by term: Alzheimer's disease
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:678784 PMID:8696333 PMID:8896549 PMID:8896550 PMID:8931958 PMID:8943161 PMID:9024376 PMID:9106528 PMID:9138148 PMID:9162021 PMID:9211748 PMID:9321765 PMID:9326341 PMID:9341868 PMID:9356458 PMID:9439654 PMID:9462220 PMID:9482831 PMID:9585606 PMID:9851896 PMID:9851897 PMID:10194428 PMID:10381492 PMID:10401000 PMID:10431233 PMID:10660483 PMID:11336458 PMID:11358905 PMID:11399207 PMID:11423500 PMID:11479183 PMID:11532995 PMID:11812557 PMID:11874997 PMID:11904676 PMID:12241803 PMID:12377814 PMID:12429850 PMID:12436244 PMID:12885340 PMID:12915468 PMID:14618419 PMID:14673107 PMID:14729817 PMID:15060098 PMID:15070663 PMID:15280838 PMID:15347835 PMID:15858186 PMID:16132052 PMID:16879202 PMID:17047092 PMID:17600748 PMID:17828789 PMID:18199861 PMID:18499578 PMID:18504828 PMID:18566337 PMID:19084217 PMID:19159930 PMID:19444013 PMID:19554541 PMID:20107990 PMID:20301613 PMID:21243428 PMID:21452290 PMID:22531912 PMID:24033266 PMID:24729993 PMID:25741868 PMID:25741869 PMID:26153218 PMID:26365338 PMID:27124787 PMID:27173269 PMID:28443246 PMID:28492532 PMID:28617828 PMID:30291871 PMID:30311386 PMID:31220083, PMID:15060098 RGD:1358657 NCBI chr17:43,661,276...43,669,327
Ensembl chr17:43,661,222...43,669,985
JBrowse link
G Hif1a hypoxia inducible factor 1 subunit alpha ISO mRNA, protein:increased expression:cerebral cortex, microvessel (human)
protein:increased expression:brain, microvessel (mouse)
RGD PMID:16627934, PMID:21904637 RGD:9068875, RGD:9068888 NCBI chr 6:96,810,868...96,856,303
Ensembl chr 6:96,810,907...96,856,052
JBrowse link
G Hmgb1 high mobility group box 1 ISO RGD PMID:23905994 RGD:10402058 NCBI chr12:7,082,529...7,090,246
Ensembl chr16:37,500,017...37,502,237
JBrowse link
G Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase ISO RGD PMID:17724290 RGD:5508460 NCBI chr 2:27,480,224...27,500,654
Ensembl chr 2:27,480,226...27,500,654
JBrowse link
G Hmox1 heme oxygenase 1 ISO protein:increased expression:hippocampus, temporal cortex (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:11144356, PMID:7778849 RGD:1358658 NCBI chr19:14,508,634...14,515,455
Ensembl chr19:14,508,616...14,515,456
JBrowse link
G Hnrnpa1 heterogeneous nuclear ribonucleoprotein A1 ISO protein:decreased expression:entorhinal cortex (human) RGD PMID:22628224 RGD:9999191 NCBI chr 7:144,865,302...144,871,592
Ensembl chr 7:144,865,608...144,871,585
JBrowse link
G Hnrnpa2b1 heterogeneous nuclear ribonucleoprotein A2/B1 ISO protein:decreased expression:entorhinal cortex (human) RGD PMID:22628224 RGD:9999191 NCBI chr 4:81,237,496...81,241,281
Ensembl chr 4:81,237,496...81,241,282
JBrowse link
G Hras HRas proto-oncogene, GTPase ISO protein:increased expression:brain, neuron (human) RGD PMID:10661494 RGD:10412306 NCBI chr 1:214,178,404...214,181,841
Ensembl chr 1:214,178,407...214,181,686
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:632866, RGD:13792781 NCBI chr  X:21,696,796...21,699,241
Ensembl chr  X:21,696,772...21,699,241
JBrowse link
G Hsd17b3 hydroxysteroid (17-beta) dehydrogenase 3 ISO mRNA:altered expression:cerebellum, hippocampus (human) RGD PMID:18180323 RGD:4889108 NCBI chr17:1,579,319...1,610,745
Ensembl chr17:1,579,319...1,610,745
JBrowse link
G Hsd3b1 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 ISO mRNA:altered expression:cerebellum, hippocampus (human) RGD PMID:18180323 RGD:4889108
G Hsd3b2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 ISO mRNA:altered expression:cerebellum, hippocampus (human) RGD PMID:18180323 RGD:4889108 NCBI chr 2:200,712,895...200,722,429
Ensembl chr 2:202,341,422...202,350,929
JBrowse link
G Hsf1 heat shock transcription factor 1 ISO
IEP
protein:altered localization:promoter (mouse)
protein:decreased expression:cerebellum (rat)
RGD PMID:24849358, PMID:23665061 RGD:10402385, RGD:10402771 NCBI chr 7:117,538,523...117,565,478
Ensembl chr 7:117,538,523...117,565,478
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 chr 6:135,107,262...135,112,793
Ensembl chr 6:135,107,271...135,112,775
JBrowse link
G Hspa13 heat shock protein family A (Hsp70) member 13 ISO ClinVar Annotator: match by term: Alzheimer's disease ClinVar PMID:16369530 PMID:16921174 PMID:24691562 NCBI chr11:14,146,515...14,160,697
Ensembl chr11:14,144,130...14,160,892
JBrowse link
G Hspa1a heat shock protein family A (Hsp70) member 1A ISO DNA:polymorphism: :-110A>C(human) RGD PMID:15832029 RGD:10402403 NCBI chr20:4,875,834...4,881,751
Ensembl chr20:4,877,324...4,879,779
JBrowse link
G Hspa1b heat shock protein family A (Hsp70) member 1B disease_progression ISO DNA:polymorphism: : RGD PMID:12967056 RGD:10402401 NCBI chr20:4,877,638...4,880,112
Ensembl chr20:2,699,712...2,701,815
JBrowse link
G Hspa9 heat shock protein family A (Hsp70) member 9 ISO RGD PMID:17050040, PMID:17050040 RGD:10402560, RGD:10402560 NCBI chr18:27,731,072...27,749,235
Ensembl chr18:27,731,072...27,749,235
JBrowse link
G Hspb1 heat shock protein family B (small) member 1 IEP mRNA,protein:increased expression:brainstem, astrocyte: RGD PMID:25772164 RGD:10402580 NCBI chr12:23,839,390...23,841,051
Ensembl chr12:23,839,399...23,841,049
JBrowse link
G Hspd1 heat shock protein family D (Hsp60) member 1 IDA
ISO
protein:increased modification:brain
protein:increased expression:mitochondrion:
protein:increased expression:cytosol, mitochondrion:
RGD PMID:15802185, PMID:22753410, PMID:22753410 RGD:1624243, RGD:10402831, RGD:10402831 NCBI chr 9:61,680,529...61,691,202
Ensembl chr 9:61,680,530...61,690,956
JBrowse link
G Htr1a 5-hydroxytryptamine receptor 1A ISO RGD PMID:20508993 RGD:5683632 NCBI chr 2:36,246,628...36,247,896
Ensembl chr 2:36,246,628...36,247,896
JBrowse link
G Htr6 5-hydroxytryptamine receptor 6 susceptibility ISO DNA:silent mutation:cds: 267C>T (human) RGD PMID:10624811 RGD:1358662 NCBI chr 5:157,501,202...157,518,870
Ensembl chr 5:157,503,040...157,518,631
JBrowse link
G Htra2 HtrA serine peptidase 2 ISO protein:increased activity:frontal cortex (human) RGD PMID:21163861 RGD:5688722 NCBI chr 4:113,883,671...113,886,833
Ensembl chr 4:113,883,670...113,886,994
JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO DNA:missense mutation:cds:p.K469E (human) RGD PMID:12498973 RGD:1358664 NCBI chr 8:22,035,287...22,047,049
Ensembl chr 8:22,035,256...22,047,059
JBrowse link
G Ide insulin degrading enzyme treatment ISO
IEP
IDA
protein:decreased expression:cerebrospinal fluid
associated with Insulin Resistance
CTD Direct Evidence: marker/mechanism
CTD PMID:17192785, PMID:12634421, PMID:28157092, PMID:28164769, PMID:29948724, PMID:26963025, PMID:28447730, PMID:28553348, PMID:30224067 RGD:737718, RGD:13792829, RGD:13792824, RGD:13792800, RGD:13792798, RGD:13792793, RGD:13792792, RGD:13792790 NCBI chr 1:255,914,465...256,014,168
Ensembl chr 1:255,914,447...256,013,495
JBrowse link
G Igf1 insulin-like growth factor 1 treatment
onset
susceptibility
ISO protein:decreased expression:hippocampus:
CTD Direct Evidence: marker/mechanism
protein:increased expression:serum:
DNA:polymorphism:intron: rs972936(human)
protein:altered expression:plasma,cerebral spinal fluid:
CTD PMID:15750215, PMID:23740209, PMID:10399774, PMID:24054991, PMID:23089282, PMID:24301648, PMID:24301648 RGD:10045852, RGD:10402576, RGD:10045860, RGD:10045854, RGD:10045853, RGD:10045853 NCBI chr 7:28,412,123...28,491,815
Ensembl chr 7:28,412,198...28,486,609
JBrowse link
G Igf1r insulin-like growth factor 1 receptor treatment
severity
ISO
IEP
IMP
DNA: haploinsufficiency:: full knockout dies at birth
CTD Direct Evidence: marker/mechanism
protein:increased expression: cerebral cortex:
protein:increased expression:temporal cortex:
CTD PMID:15750215, PMID:20409077, PMID:23562514, PMID:18479783, PMID:18479783, PMID:16274856, PMID:16274856, PMID:19487308 RGD:5686420, RGD:12904921, RGD:10045894, RGD:10045894, RGD:10045879, RGD:10045879, RGD:10045878 NCBI chr 1:128,924,921...129,213,816
Ensembl chr 1:128,924,966...129,206,516
JBrowse link
G Igf2 insulin-like growth factor 2 treatment IEP
ISO
mRNA:decreased expression:brain
CTD Direct Evidence: marker/mechanism
CTD PMID:15750215, PMID:16627931, PMID:24685003, PMID:21040071, PMID:24887203 RGD:5509963, RGD:10402559, RGD:10402558, RGD:10045934 NCBI chr 1:215,828,102...215,839,081
Ensembl chr 1:215,828,102...215,846,911
JBrowse link
G Igf2r insulin-like growth factor 2 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:15750215 NCBI chr 1:48,176,095...48,264,482
Ensembl chr 1:48,176,106...48,264,477
JBrowse link
G Igfbp2 insulin-like growth factor binding protein 2 ISO protein:decreased expression:temporal cortex: RGD PMID:18479783 RGD:10045894 NCBI chr 9:80,118,029...80,144,804
Ensembl chr 9:80,118,029...80,144,789
JBrowse link
G Igfbp3 insulin-like growth factor binding protein 3 treatment ISO protein:increased expression:serum
mRNA:decreased expression:hippocampus
RGD PMID:23473966, PMID:10399774, PMID:24964199 RGD:10402570, RGD:10402576, RGD:10402572 NCBI chr14:87,457,647...87,465,374
Ensembl chr14:87,457,647...87,465,374
JBrowse link
G Ikbkb inhibitor of nuclear factor kappa B kinase subunit beta treatment IEP protein:increased expression:hippocampus: RGD PMID:24380241 RGD:10045941 NCBI chr16:74,177,233...74,230,809
Ensembl chr16:74,177,215...74,230,815
JBrowse link
G Il10 interleukin 10 susceptibility
treatment
ISO DNA:SNPs,haplotype: -1082G>A, -819T>C, -592C>A (human) RGD PMID:14746878, PMID:21803105 RGD:1358665, RGD:7364841 NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
JBrowse link
G Il1a interleukin 1 alpha susceptibility
disease_progression
no_association
ISO protein:increased expression:microglial cell, cortical layer:
DNA:SNP:5'UTR:rs1800587(human)
RGD PMID:10716257, PMID:9775393, PMID:11402127, PMID:19158434 RGD:1358667, RGD:10046059, RGD:10045947, RGD:10045945 NCBI chr 3:121,824,712...121,836,122
Ensembl chr 3:121,825,412...121,836,086
JBrowse link
G Il1b interleukin 1 beta onset
no_association
treatment
ISO
IEP
IDA
protein:increased expression:plasma
DNA:SNP: :rs1143634 (human)
DNA:SNP:promoter:-31T>C (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:18675847, PMID:16600299, PMID:20413850, PMID:18830724, PMID:18830724, PMID:23378761, PMID:26937653, PMID:24022074, PMID:24874542, PMID:29447949, PMID:22963993 RGD:1626633, RGD:13793381, RGD:13792820, RGD:13792820, RGD:13792819, RGD:11522340, RGD:13792818, RGD:13792817, RGD:13792816, RGD:7204700 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
JBrowse link
G Il2 interleukin 2 severity ISO protein:increased secretion:mononuclear cell: RGD PMID:8915041, PMID:8586980 RGD:10047080, RGD:10047081 NCBI chr 2:123,847,150...123,851,854
Ensembl chr 2:123,847,150...123,851,854
JBrowse link
G Il3 interleukin 3 ISO protein:decreased expression:plasma RGD PMID:17934472, PMID:18769539 RGD:5686815, RGD:5686817 NCBI chr10:39,620,535...39,622,973
Ensembl chr10:39,620,563...39,622,973
JBrowse link
G Il33 interleukin 33 ISS OMIM:608907 MouseDO NCBI chr 1:248,112,611...248,147,030
Ensembl chr 1:248,132,090...248,147,029
JBrowse link
G Il4 interleukin 4 ISO DNA:polymorphisms:promoter RGD PMID:20213229 RGD:10402788 NCBI chr10:38,963,979...38,969,531
Ensembl chr10:38,963,979...38,969,531
JBrowse link
G Il6 interleukin 6 treatment IDA RGD PMID:27088818 RGD:11062148 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G Il6r interleukin 6 receptor no_association ISO protein:increased expression:cerebrospinal fluid, plasma
DNA:SNPs:promoter:-208G>A (rs4845617) (human)
DNA:SNPs:promoter, exon:-530G>T, 48867A/>C (p.D358A, rs8192284) (human)
RGD PMID:12664314, PMID:20197062, PMID:20197062 RGD:10402808, RGD:10402810, RGD:10402810 NCBI chr 2:189,196,180...189,255,987
Ensembl chr 2:189,205,701...189,254,628
JBrowse link
G Il6st interleukin 6 signal transducer ISO protein:decreased expression:cerebrospinal fluid RGD PMID:10095017 RGD:10402847 NCBI chr 2:44,279,199...44,319,427
Ensembl chr 2:44,289,393...44,314,944
JBrowse link
G Il7 interleukin 7 ISO RGD PMID:22571981 RGD:10402933 NCBI chr 2:96,427,884...96,474,979
Ensembl chr 2:96,439,286...96,474,977
JBrowse link
G Inpp5d inositol polyphosphate-5-phosphatase D ISO CTD Direct Evidence: marker/mechanism CTD PMID:30320580 NCBI chr 9:94,745,220...94,850,778
Ensembl chr 9:94,745,217...94,850,771
JBrowse link
G Ins1 insulin 1 IEP mRNA:decreased expression:hippocampus RGD PMID:17448147 RGD:2298713 NCBI chr 1:272,799,784...272,800,351
Ensembl chr 1:272,799,784...272,800,347
JBrowse link
G Ins2 insulin 2 IEP
ISO
mRNA:decreased expression:cerebral cortex
CTD Direct Evidence: marker/mechanism
CTD PMID:9443474 PMID:15750215, PMID:17448147 RGD:2298713 NCBI chr 1:215,856,967...215,858,034
Ensembl chr 1:215,856,971...215,858,034
JBrowse link
G Insr insulin receptor treatment ISO
IEP
CTD Direct Evidence: marker/mechanism
mRNA:decreased expression:brain
protein:altered localization:brain, neuron
CTD PMID:24055495, PMID:23011726, PMID:16627931, PMID:18479783 RGD:10403036, RGD:5509963, RGD:10045894 NCBI chr12:1,682,527...1,816,414
Ensembl chr12:1,680,957...1,816,414
JBrowse link
G Iqck IQ motif containing K ISO CTD Direct Evidence: marker/mechanism CTD PMID:30820047 NCBI chr 1:188,571,930...188,690,184
Ensembl chr 1:188,571,953...188,688,700
JBrowse link
G Ireb2 iron responsive element binding protein 2 ISO DNA:SNPs: :rs2656070, rs13180(human) RGD PMID:16914832 RGD:6893299 NCBI chr 8:59,450,974...59,503,634
Ensembl chr 8:59,420,123...59,501,118
JBrowse link
G Irs1 insulin receptor substrate 1 treatment
severity
ISO
IEP
protein:increased expression, increased serine phosphorylation, increased tyrosine phosphorylation:hippocampus CA1
protein:decreased expression:hippocampus:
DNA:SNP:cds:rs1801278(human)
protein:altered expression:temporal cortex:
protein:increased serine phosphorylation:hippocampus
RGD PMID:22476197, PMID:23011726, PMID:22527777, PMID:23660953, PMID:24589556, PMID:18479783, PMID:22476196 RGD:6482860, RGD:10403036, RGD:10045939, RGD:10045935, RGD:10045932, RGD:10045894, RGD:6482861 NCBI chr 9:88,033,668...88,086,488
Ensembl chr 9:88,033,668...88,086,488
JBrowse link
G Irs2 insulin receptor substrate 2 severity ISO mRNA:decreased expression:hippocampus:
protein:decreased expression:temporal cortex:
RGD PMID:19487308, PMID:24887203, PMID:18479783 RGD:10045878, RGD:10045934, RGD:10045894 NCBI chr16:83,824,515...83,848,569
Ensembl chr16:83,824,430...83,848,684
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 chr 4:140,247,297...140,580,749
Ensembl chr 4:140,247,313...140,580,748
JBrowse link
G Jak2 Janus kinase 2 treatment ISO RGD PMID:18813209 RGD:10403051 NCBI chr 1:247,398,667...247,457,521
Ensembl chr 1:247,398,598...247,458,509
JBrowse link
G Jam2 junctional adhesion molecule 2 ISO ClinVar Annotator: match by term: Alzheimer's disease ClinVar PMID:16369530 PMID:16921174 PMID:24691562 NCBI chr11:24,235,310...24,285,279
Ensembl chr11:24,266,345...24,285,275
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 chr 1:102,414,352...102,456,718
Ensembl chr 1:102,414,625...102,456,411
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:21912965, PMID:15485486 RGD:9686062, RGD:10411900 NCBI chr 2:210,220,908...210,241,447
Ensembl chr 2:210,220,908...210,241,455
JBrowse link
G Kcnma1 potassium calcium-activated channel subfamily M alpha 1 onset ISO DNA:SNP: :rs16934131 (human) RGD PMID:21480501 RGD:10412025 NCBI chr15:344,204...1,048,849
Ensembl chr15:344,360...1,047,956
JBrowse link
G Kl Klotho treatment ISO mRNA,protein:decreased expression:cerebral choroid,serum: RGD PMID:23973442 RGD:10403049 NCBI chr12:942,974...987,206
Ensembl chr12:943,006...987,551
JBrowse link
G Klc1 kinesin light chain 1 susceptibility ISO DNA:SNPs: :rs8007903, rs3212079 (human)
DNA:SNP:intron:56836G>C (human)
RGD PMID:19911314, PMID:15364413 RGD:5683908, RGD:5684007 NCBI chr 6:136,330,151...136,373,716
Ensembl chr 6:136,330,383...136,373,721
JBrowse link
G Klk6 kallikrein related-peptidase 6 ISO RGD PMID:12480753, PMID:12074831 RGD:1358604, RGD:1358599 NCBI chr 1:99,762,195...99,769,486
Ensembl chr 1:99,762,253...99,769,488
JBrowse link
G Klrg1 killer cell lectin like receptor G1 ISO ClinVar Annotator: match by term: Alzheimer disease, susceptibility to ClinVar PMID:1717945 PMID:9697696 PMID:24033266 NCBI chr 4:155,038,936...155,051,449
Ensembl chr 4:155,039,628...155,051,429
JBrowse link
G L1cam L1 cell adhesion molecule ISO protein:increased expression:cerebrospinal fluid (human) RGD PMID:16298234 RGD:6483456 NCBI chr  X:156,901,244...156,928,064
Ensembl chr  X:156,909,913...156,928,057
JBrowse link
G Ldlr low density lipoprotein receptor no_association ISO DNA:SNPs:exon:rs5925, rs5927, rs5930 (human)
DNA:SNPs:exon (human)
DNA:SNPs:exon:rs5925, rs5930, rs11669576 (human)
DNA:SNPs: :rs5925, rs2738444, rs11669576 (human)
RGD PMID:21755005, PMID:15585340, PMID:16378661, PMID:15689450, PMID:16741934, PMID:17239995 RGD:5490231, RGD:5490244, RGD:5490243, RGD:5490242, RGD:5490241, RGD:5490239 NCBI chr 8:22,750,425...22,773,305
Ensembl chr 8:22,750,336...22,774,903
JBrowse link
G Lep leptin treatment IDA
ISO
associated with Obesity
CTD Direct Evidence: therapeutic
compared to cortisol;protein:altered expression:plasma (human)
CTD PMID:20157255, PMID:25296496, PMID:9755363 RGD:10053617, RGD:10053632 NCBI chr 4:56,337,695...56,351,818
Ensembl chr 4:56,337,695...56,351,818
JBrowse link
G Lipc lipase C, hepatic type no_association ISO DNA:SNPs: :rs6074, rs6083, rs6084 (human)
DNA:SNPs: :rs6084 (human)
RGD PMID:17175070, PMID:17175070 RGD:1600644, RGD:1600644 NCBI chr 8:77,272,582...77,398,485
Ensembl chr 8:77,272,570...77,398,248
JBrowse link
G Lipi lipase I ISO ClinVar Annotator: match by term: Alzheimer's disease ClinVar PMID:16369530 PMID:16921174 PMID:24691562 NCBI chr11:13,960,246...13,999,869
Ensembl chr11:13,960,246...13,999,862
JBrowse link
G Lpl lipoprotein lipase no_association
severity
ISO DNA:point mutations: :p.N291S, p.S447X (human)
DNA:polymorphism:intron
DNA:SNPs: :rs268, rs328 (human)
DNA:SNPs: :multiple
DNA, mRNA:SNP, decreased expression: :rs285 (human)
RGD PMID:24004859, PMID:10206232, PMID:12133567, PMID:15331147, PMID:16013913, PMID:27897113, PMID:16965549 RGD:13793392, RGD:13799353, RGD:13793397, RGD:13793396, RGD:5685661, RGD:13793395, RGD:13793393 NCBI chr16:22,537,687...22,561,487
Ensembl chr16:22,537,056...22,561,496
JBrowse link
G Lrp1 LDL receptor related protein 1 treatment ISO
IEP
ISS
DNA:SNP:exon 3:C>T (human)
OMIM:104300 | OMIM:502500 | OMIM:604154 | OMIM:608907
MouseDO PMID:9635959, PMID:19150622, PMID:29115637 RGD:1358747, RGD:13800553, RGD:13799352 NCBI chr 7:70,846,313...70,927,028
Ensembl chr 7:70,846,344...70,926,903
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 chr 5:127,404,348...127,476,636
Ensembl chr 5:127,404,450...127,476,641
JBrowse link
G Lrpap1 LDL receptor related protein associated protein 1 onset ISO RGD PMID:11425005 RGD:1358749 NCBI chr14:80,911,281...80,923,290
Ensembl chr14:80,911,270...80,924,831
JBrowse link
G Maoa monoamine oxidase A ISO RGD PMID:1627256 RGD:10046060 NCBI chr  X:6,554,698...6,620,722
Ensembl chr  X:6,554,698...6,620,722
JBrowse link
G Maob monoamine oxidase B ISO CTD Direct Evidence: marker/mechanism CTD PMID:7816197 PMID:21075085, PMID:1627256 RGD:10046060 NCBI chr  X:6,430,694...6,533,520
Ensembl chr  X:6,430,594...6,533,534
JBrowse link
G Map2 microtubule-associated protein 2 IDA RGD PMID:22083255 RGD:6483322 NCBI chr 9:73,204,753...73,462,965
Ensembl chr 9:73,319,710...73,462,972
JBrowse link
G Mapk1 mitogen activated protein kinase 1 treatment
onset
ISO mRNA:increased expression: CA2 field of hippocampus, pyramidal neuron RGD PMID:28079060, PMID:24334724 RGD:13800563, RGD:13800868 NCBI chr11:88,203,863...88,273,301
Ensembl chr11:88,211,599...88,273,254
JBrowse link
G Mapk10 mitogen activated protein kinase 10 ISO protein:increased expression:CA1 field of hippocampus: RGD PMID:11208906 RGD:10412676 NCBI chr14:8,079,955...8,371,508
Ensembl chr14:8,080,275...8,368,254
JBrowse link
G Mapk14 mitogen activated protein kinase 14 treatment IEP
ISO
mRNA:increased expression:frontal lobe cortex, hippocampus CA2 (rat) RGD PMID:20529587, PMID:17784957 RGD:10047076, RGD:10047104 NCBI chr20:5,933,290...5,995,137
Ensembl chr20:5,933,303...5,995,137
JBrowse link
G Mapk3 mitogen activated protein kinase 3 treatment ISO RGD PMID:28079060 RGD:13800563 NCBI chr 1:198,192,773...198,198,975
Ensembl chr 1:198,192,773...198,198,975
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 chr16:9,620,854...9,709,342
Ensembl chr16:9,625,177...9,709,347
JBrowse link
G Mapk9 mitogen-activated protein kinase 9 ISO protein:increased expression:brain,CA1 field of hippocampus: RGD PMID:11208906 RGD:10412676 NCBI chr10:35,333,859...35,374,364
Ensembl chr10:35,333,859...35,374,355
JBrowse link
G Mapt microtubule-associated protein tau treatment
onset
no_association
ISO
IDA
ClinVar Annotator: match by term: Alzheimer's disease
CTD Direct Evidence: marker/mechanism
protein:hyperphosphorylation:brain:
DNA:mutation:cds:p.R406W(human)
DNA:SNP, haplotypes:promoter:rs242557 (human)
DNA:SNPs, haplotypes:promoter:rs242557 (human)
ClinVar
CTD
PMID:12852432 PMID:14517953 PMID:15750215 PMID:20157255 PMID:21715663 PMID:25352456 PMID:27117003 PMID:30279455, PMID:11520987, PMID:27060945, PMID:28342971, PMID:29126976, PMID:8226987, PMID:19252918, PMID:18587238, PMID:23116876, PMID:19308965 RGD:1302530, RGD:13800908, RGD:13800904, RGD:13782165, RGD:10412709, RGD:10412704, RGD:10412701, RGD:8158105, RGD:8158097 NCBI chr10:92,289,002...92,386,517
Ensembl chr10:92,288,910...92,386,517
JBrowse link
G Mbl2 mannose binding lectin 2 susceptibility ISO protein:decreased expression:cerebrospinal fluid (human)
DNA:haplotype:promoter:
RGD PMID:9631454, PMID:23348713 RGD:4889155, RGD:12910848 NCBI chr 1:248,435,069...248,442,669
Ensembl chr 1:248,723,397...248,729,962
JBrowse link
G Mcm2 minichromosome maintenance complex component 2 ISO RGD PMID:19946466, PMID:17070803 RGD:10412048, RGD:10412050 NCBI chr 4:120,825,699...120,840,221
Ensembl chr 4:120,825,699...120,840,111
JBrowse link
G Mdm4 MDM4 regulator of p53 disease_progression ISO RGD PMID:23861893 RGD:10047419 NCBI chr13:49,786,776...49,828,780
Ensembl chr13:49,792,794...49,828,720
JBrowse link
G Mfn1 mitofusin 1 ISO protein:decreased expression:hippocampus (human) RGD PMID:19605646 RGD:7800727 NCBI chr 2:118,929,738...118,971,689
Ensembl chr 2:118,929,738...118,973,698
JBrowse link
G Mfn2 mitofusin 2 ISO
IEP
protein:decreased expression:hippocampus (human)
protein:increased expression:hippocampus (rat)
RGD PMID:19605646, PMID:28302704 RGD:7800727, RGD:12910737 NCBI chr 5:164,684,244...164,715,414
Ensembl chr 5:164,684,509...164,714,145
JBrowse link
G Mir100 microRNA 100 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25992776 NCBI chr 8:45,746,948...45,747,027
Ensembl chr 8:45,746,948...45,747,027
JBrowse link
G Mir124-3 microRNA 124-3 ISO CTD Direct Evidence: therapeutic CTD PMID:28867212 NCBI chr 3:176,406,205...176,406,291
Ensembl chr 3:176,406,205...176,406,291
JBrowse link
G Mir125b2 microRNA 125b-2 ISO ClinVar Annotator: match by term: Alzheimer's disease ClinVar PMID:16369530 PMID:16921174 PMID:24691562 NCBI chr11:16,097,346...16,097,433 JBrowse link
G Mir146a microRNA 146a ISO CTD Direct Evidence: marker/mechanism CTD PMID:22099153 PMID:25992776 NCBI chr10:28,962,476...28,962,570
Ensembl chr10:28,962,476...28,962,570
JBrowse link
G Mir155 microRNA 155 ISO ClinVar Annotator: match by term: Alzheimer's disease ClinVar PMID:16369530 PMID:16921174 PMID:24691562 NCBI chr11:24,176,603...24,176,667
Ensembl chr11:24,176,603...24,176,667
JBrowse link
G Mir296 microRNA 296 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25992776 NCBI chr 3:172,357,490...172,357,567
Ensembl chr 3:172,357,490...172,357,567
JBrowse link
G Mir375 microRNA 375 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25992776 NCBI chr 9:82,161,716...82,161,790
Ensembl chr 9:82,161,716...82,161,790
JBrowse link
G Mir708 microRNA 708 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25992776 NCBI chr 1:161,221,246...161,221,333
Ensembl chr 1:161,221,246...161,221,333
JBrowse link
G Mir99a microRNA 99a ISO ClinVar Annotator: match by term: Alzheimer's disease ClinVar PMID:16369530 PMID:16921174 PMID:24691562 NCBI chr11:16,052,153...16,052,233
Ensembl chr11:16,052,153...16,052,233
JBrowse link
G Mirlet7c1 microRNA let-7c-1 ISO ClinVar Annotator: match by term: Alzheimer's disease ClinVar PMID:16369530 PMID:16921174 PMID:24691562 NCBI chr11:16,052,873...16,052,966
Ensembl chr11:16,052,868...16,052,975
JBrowse link
G Mme membrane metallo-endopeptidase treatment
no_association
severity
onset
ISS
ISO
IEP
OMIM:104300 | OMIM:502500 | OMIM:604154 | OMIM:608907
associated with Endotoxemia
DNA:SNPs, repeat:multiple:multiple
DNA:SNPs:introns:rs1836915, rs6776185, rs6801319 (human)
DNA:SNPs, haplotypes:promoter, introns:-204G>C, IVS17-294C>T, IVS22+36C>A (human)
DNA:SNPs, repeats, deletion:promoter:multiple
DNA:repeats
DNA:SNPs:5' utr, 3' utr:rs3736187, rs989692, rs701109 (human)
DNA:SNPs: :multiple
DNA:SNP: :rs6797911 (human)
DNA:SNP:3' utr:rs6665 (human)
MouseDO PMID:25416980, PMID:25884928, PMID:20141738, PMID:17928142, PMID:17928142, PMID:12074840, PMID:15860464, PMID:12527400, PMID:11849775, PMID:19606063, PMID:21537452, PMID:22493749, PMID:22493749, PMID:25991605, PMID:28294061 RGD:13801033, RGD:13801034, RGD:13801024, RGD:13801023, RGD:13801023, RGD:13801022, RGD:13801021, RGD:13801020, RGD:1600813, RGD:13801019, RGD:13801012, RGD:13801011, RGD:13801011, RGD:13801010, RGD:13801009 NCBI chr 2:153,799,203...153,880,910
Ensembl chr 2:153,803,349...153,880,738
JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO protein:decreased expression:platelet RGD PMID:21875409 RGD:10059680 NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:plasma (human) RGD PMID:17697439 RGD:7207052 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
G Mpo myeloperoxidase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Alzheimer disease, susceptibility to
CTD
ClinVar
PMID:11087769 PMID:15023809 PMID:17304047 NCBI chr10:75,087,892...75,098,260
Ensembl chr10:75,087,892...75,098,260
JBrowse link
G Mre11 MRE11 homolog, double strand break repair nuclease ISO protein:decreased expression:cerebral cortex (human) RGD PMID:15337312 RGD:2317734 NCBI chr 8:13,304,355...13,350,329
Ensembl chr 8:13,305,152...13,352,489
JBrowse link
G Mrpl39 mitochondrial ribosomal protein L39 ISO ClinVar Annotator: match by term: Alzheimer's disease ClinVar PMID:16369530 PMID:16921174 PMID:24691562 NCBI chr11:24,181,605...24,200,022
Ensembl chr11:24,181,658...24,199,968
JBrowse link
G Ms4a4a membrane spanning 4-domains A4A ISO CTD Direct Evidence: marker/mechanism CTD PMID:21460841 NCBI chr 1:227,574,789...227,606,958
Ensembl chr 1:227,592,635...227,607,042
Ensembl chr 1:227,592,635...227,607,042
JBrowse link
G Mt-nd1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 ISO mRNA:decreased expression:frontal cortex, Brodmann area 9 (human)
ClinVar Annotator: match by term: Alzheimer's disease
ClinVar PMID:7624338 PMID:15972314, PMID:15075441 RGD:5490287 NCBI chr MT:2,740...3,694
Ensembl chr MT:2,740...3,694
JBrowse link
G Mt-nd2 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 no_association ISO DNA:mutation::m.5460G>A (human) RGD PMID:1352971, PMID:1370613 RGD:5507833, RGD:5507834 NCBI chr MT:3,904...4,942
Ensembl chr MT:3,904...4,942
JBrowse link
G Mt-nd4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 ISO mRNA:decreased expression:brain RGD PMID:10447460 RGD:5508713 NCBI chr MT:10,160...11,537
Ensembl chr MT:10,160...11,537
JBrowse link
G Mt1 metallothionein 1 ISO RGD PMID:22766972 RGD:10412319 NCBI chr19:11,301,991...11,303,007
Ensembl chr17:78,793,336...78,793,724
JBrowse link
G Mt2A metallothionein 2A ISO
IEP
mRNA:decreased expression:cerebral cortex (rat) RGD PMID:22766972, PMID:16914836 RGD:10412319, RGD:10412320 NCBI chr19:11,307,966...11,308,740
Ensembl chr19:11,307,967...11,308,740
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:9685805, RGD:6480619, RGD:6480534 NCBI chr19:11,324,708...11,326,112
Ensembl chr19:11,324,698...11,326,139
JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17192785 NCBI chr 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
JBrowse link
G Nae1 NEDD8 activating enzyme E1 subunit 1 ISO RGD PMID:14557245 RGD:2302388 NCBI chr19:653,510...680,378
Ensembl chr19:653,510...680,378
JBrowse link
G Napb NSF attachment protein beta ISO protein:decreased expression:temporal cortex RGD PMID:11244216 RGD:10412652 NCBI chr 3:143,017,571...143,063,904
Ensembl chr 3:143,020,454...143,063,983
JBrowse link
G Nbn nibrin ISO RGD PMID:15337312 RGD:2317734 NCBI chr 5:29,622,347...29,656,877
Ensembl chr 5:29,622,281...29,656,864
JBrowse link
G Ncam2 neural cell adhesion molecule 2 ISO ClinVar Annotator: match by term: Alzheimer's disease ClinVar PMID:16369530 PMID:16921174 PMID:24691562 NCBI chr11:19,669,922...20,705,063
Ensembl chr11:20,471,764...20,705,063
JBrowse link
G Ncf2 neutrophil cytosolic factor 2 ISO protein:altered localization RGD PMID:10873554 RGD:2314452 NCBI chr13:70,226,441...70,259,019
Ensembl chr13:70,226,647...70,257,576
JBrowse link
G Ncstn nicastrin no_association
onset
ISO CTD Direct Evidence: marker/mechanism
DNA:missense mutation, SNPs:exon, intron, 3' utr:multiple
DNA:missense mutation: :417N>Y (human)
DNA:SNPs, haplotype:introns:multiple
protein:increased modification:brain
DNA:SNP:promoter:-436C>T (human)
DNA:SNPs:promoter:-796T>G, -1216C>A (human)
DNA:SNP:promoter:-922G>T (rs10752637) (human)
CTD PMID:17192785, PMID:14642438, PMID:23595812, PMID:11992262, PMID:11992262, PMID:22404891, PMID:19394408, PMID:19394408, PMID:15157994, PMID:19840113 RGD:13801188, RGD:13801187, RGD:13801052, RGD:13801052, RGD:13801051, RGD:13801050, RGD:13801050, RGD:13801049, RGD:13801048 NCBI chr13:90,451,046...90,467,256
Ensembl chr13:90,451,044...90,467,256
JBrowse link
G Ndufa2 NADH:ubiquinone oxidoreductase subunit A2 ISO RGD PMID:28474567 RGD:13792588 NCBI chr18:29,585,671...29,587,760
Ensembl chr18:29,585,671...29,587,760
JBrowse link
G Ndufa5 NADH:ubiquinone oxidoreductase subunit A5 ISO RGD PMID:19760337 RGD:13801191 NCBI chr 4:51,590,413...51,598,771
Ensembl chr 4:51,590,413...51,598,771
JBrowse link
G Ndufa6 NADH:ubiquinone oxidoreductase subunit A6 ISO mRNA:increased expression:blood RGD PMID:26943237 RGD:11572212 NCBI chr 7:123,583,062...123,586,919
Ensembl chr 7:123,583,062...123,586,919
JBrowse link
G Ndufb3 NADH:ubiquinone oxidoreductase subunit B3 ISO RGD PMID:28474567 RGD:13792588 NCBI chr 9:65,478,496...65,488,708
Ensembl chr 9:65,478,496...65,488,702
JBrowse link
G Ndufb8 NADH:ubiquinone oxidoreductase subunit B8 ISO RGD PMID:14570706 RGD:1358651 NCBI chr 1:264,298,671...264,303,712
Ensembl chr 1:264,298,669...264,303,762
JBrowse link
G Ndufs3 NADH:ubiquinone oxidoreductase core subunit S3 onset ISO RGD PMID:28242297 RGD:13824970 NCBI chr 3:79,721,686...79,728,863
Ensembl chr 3:79,721,694...79,728,879
JBrowse link
G Nectin2 nectin cell adhesion molecule 2 ISO DNA:SNP: :rs6859 (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:29107063 PMID:30319691 PMID:30320580, PMID:22159054 RGD:6484658 NCBI chr 1:80,631,449...80,666,617
Ensembl chr 1:80,631,450...80,666,585
JBrowse link
G Nefm neurofilament medium ISO protein:decreased glycosylation:cerebral cortex RGD PMID:17687114 RGD:9743945 NCBI chr15:44,855,307...44,860,604
Ensembl chr15:44,855,310...44,860,604
JBrowse link
G Nfe2l2 nuclear factor, erythroid 2-like 2 onset
treatment
ISO
IEP
DNA:snps, haplotype:5' utr, intron:multiple (human)
protein:increased expression:brain, nucleus
RGD PMID:20064547, PMID:19805328, PMID:22913737, PMID:23771816 RGD:6893326, RGD:10412689, RGD:10412685, RGD:10412683 NCBI chr 3:62,497,568...62,525,146
Ensembl chr 3:62,497,571...62,524,996
JBrowse link
G Ngb neuroglobin treatment IEP RGD PMID:23428737 RGD:9743955 NCBI chr 6:111,126,259...111,131,699
Ensembl chr 6:111,126,261...111,132,320
JBrowse link
G Ngf nerve growth factor IEP RGD PMID:21368378 RGD:5144128 NCBI chr 2:204,886,158...204,939,523
Ensembl chr 2:204,886,202...204,940,453
JBrowse link
G Ngfr nerve growth factor receptor treatment
no_association
ISO
IEP
protein:altered localization:brain
protein:altered expression:urine
protein:decreased expression:basal nucleus of telencephalon, neuron
DNA:SNPs, haplotypes: :multiple
DNA:SNP:CDS:rs2072446 (human)
RGD PMID:19334058, PMID:2557638, PMID:23545424, PMID:19070649, PMID:8215963, PMID:10683291, PMID:22236693, PMID:18780967 RGD:5508225, RGD:10414073, RGD:10413895, RGD:10413894, RGD:10413893, RGD:10413892, RGD:10413891, RGD:5508228 NCBI chr10:83,389,828...83,408,061
Ensembl chr10:83,389,847...83,408,061
JBrowse link
G Nog noggin ISO RGD PMID:19463786 RGD:10414082 NCBI chr10:76,811,759...76,813,386
Ensembl chr10:76,811,759...76,813,386
JBrowse link
G Nos1 nitric oxide synthase 1 susceptibility
no_association
ISO DNA:repeat:promoter
DNA:repeat:exon
DNA:SNP:exon:-84G>A (human)
RGD PMID:21098972, PMID:12384247, PMID:10964481, PMID:17418914, PMID:17418914 RGD:13824974, RGD:13824978, RGD:13824976, RGD:13824975, RGD:13824975 NCBI chr12:44,214,949...44,405,530
Ensembl chr12:44,213,943...44,520,341
JBrowse link
G Nos2 nitric oxide synthase 2 IDA
ISO
RGD PMID:21163295, PMID:12384247, PMID:16908860 RGD:4891161, RGD:13824978, RGD:5508721 NCBI chr10:66,188,290...66,221,621
Ensembl chr10:66,189,786...66,313,190
JBrowse link
G Nos3 nitric oxide synthase 3 onset ISO human gene in rat model
ClinVar Annotator: match by term: Alzheimer disease, late-onset, susceptibility to
CTD Direct Evidence: marker/mechanism
DNA:snp:cds:p.E298D (human)
ClinVar
CTD
PMID:9737779 PMID:9894802 PMID:10475066 PMID:10510054 PMID:10514107 PMID:11026457 PMID:11354626 PMID:11394896 PMID:11745998 PMID:15007011 PMID:16059745 PMID:16813604 PMID:17165044 PMID:24033266, PMID:17413318, PMID:12384247, PMID:10514107 RGD:2292144, RGD:13824978, RGD:1358752 NCBI chr 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410
JBrowse link
G Npy neuropeptide Y treatment IEP
ISO
CTD Direct Evidence: marker/mechanism
protein:decreased expression:plasma
CTD PMID:11709213, PMID:22266216, PMID:8592643 RGD:10431479, RGD:10432246 NCBI chr 4:79,557,856...79,565,059
Ensembl chr 4:79,557,854...79,565,097
JBrowse link
G Nrg1 neuregulin 1 ISO RGD PMID:12528817 RGD:10449002 NCBI chr16:62,969,573...64,065,063
Ensembl chr16:63,837,216...64,057,434
JBrowse link
G Nrgn neurogranin ISO RGD PMID:9329454 RGD:9835394 NCBI chr 8:40,015,049...40,023,193
Ensembl chr 8:40,015,049...40,023,193
JBrowse link
G Nrip1 nuclear receptor interacting protein 1 ISO ClinVar Annotator: match by term: Alzheimer's disease ClinVar PMID:16369530 PMID:16921174 PMID:24691562 NCBI chr11:14,658,225...14,742,478
Ensembl chr11:14,658,225...14,741,563
JBrowse link
G Ntf3 neurotrophin 3 ISO DNA:missense mutation:cds:p.G63E (human) RGD PMID:9502217 RGD:1358754 NCBI chr 4:158,636,883...158,705,886
Ensembl chr 4:158,636,884...158,705,886
JBrowse link
G Ntn1 netrin 1 treatment ISO RGD PMID:30066400 RGD:13782183 NCBI chr10:54,761,925...54,982,072
Ensembl chr10:54,761,871...54,967,585
JBrowse link
G Ntrk1 neurotrophic receptor tyrosine kinase 1 disease_progression ISO early onset sporadic AD; DNA:SNP:CDS:rs6336 (human)
mRNA:decreased expression:brain
RGD PMID:18780967, PMID:21397006 RGD:5508228, RGD:5684531 NCBI chr 2:187,143,568...187,160,373
Ensembl chr 2:187,143,568...187,160,373
JBrowse link
G Ntrk2 neurotrophic receptor tyrosine kinase 2 treatment ISO
IEP
sporadic AD; DNA:SNP:intron:rs2289656 (human) RGD PMID:18780967, PMID:24877042, PMID:21900882 RGD:5508228, RGD:10059402, RGD:5684548 NCBI chr17:5,934,651...6,245,778
Ensembl chr17:5,933,729...6,244,676
JBrowse link
G Nudt1 nudix hydrolase 1 ISO protein:decreased expression:hippocampus RGD PMID:21538080 RGD:10449033 NCBI chr12:16,391,578...16,398,771
Ensembl chr12:16,391,578...16,395,029
JBrowse link
G Opa1 OPA1, mitochondrial dynamin like GTPase ISO protein:decreased expression:brain RGD PMID:19605646 RGD:7800727 NCBI chr11:74,717,600...74,793,902
Ensembl chr11:74,720,254...74,793,803
JBrowse link
G Pak1 p21 (RAC1) activated kinase 1 ISO protein:altered localization RGD PMID:18347024 RGD:2299169 NCBI chr 1:162,768,156...162,883,356
Ensembl chr 1:162,768,156...162,883,355
JBrowse link
G Parp1 poly (ADP-ribose) polymerase 1 susceptibility ISO protein:increased activity:brain:
DNA:haplotypes:cds:rs1136410,rs1805404 (human)
DNA:haplotypes: :
RGD PMID:22051244, PMID:21616968, PMID:20486200, PMID:17290104 RGD:5510011, RGD:10413888, RGD:10413887, RGD:10413885 NCBI chr13:98,857,255...98,889,444
Ensembl chr13:98,857,177...98,889,716
JBrowse link
G Pawr pro-apoptotic WT1 regulator ISO mRNA,protein:increased expression:brain: RGD PMID:9701251 RGD:9835364 NCBI chr 7:51,273,764...51,353,700
Ensembl chr 7:51,273,771...51,353,068
JBrowse link
G Pcdh11x protocadherin 11 X-linked ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Alzheimer's disease
CTD
ClinVar
PMID:19136949 PMID:29476165 NCBI chr  X:92,596,355...93,341,412 JBrowse link
G Pck1 phosphoenolpyruvate carboxykinase 1 disease_progression ISO DNA:SNPs
DNA:SNP: :rs8192708(human)
RGD PMID:17440948, PMID:20574532 RGD:2311642, RGD:10427727 NCBI chr 3:171,213,936...171,219,885
Ensembl chr 3:171,213,936...171,219,871
JBrowse link
G Pcmt1 protein-L-isoaspartate (D-aspartate) O-methyltransferase 1 ISO mRNA:increased expression:cerebral cortex: RGD PMID:8736634 RGD:10448277 NCBI chr 1:1,734,863...1,767,759
Ensembl chr 1:1,736,276...1,767,618
JBrowse link
G Pcsk1n proprotein convertase subtilisin/kexin type 1 inhibitor ISO RGD PMID:14746899 RGD:1642360 NCBI chr  X:15,324,263...15,327,705 JBrowse link
G Pde2a phosphodiesterase 2A treatment ISO RGD PMID:22771768 RGD:10449025 NCBI chr 1:166,534,643...166,626,158
Ensembl chr 1:166,534,643...166,626,158
JBrowse link
G Pdgfb platelet derived growth factor subunit B ISO protein:increased expression:plasma: RGD PMID:22279551 RGD:10449445 NCBI chr 7:121,215,458...121,233,092
Ensembl chr 7:121,214,628...121,232,741
JBrowse link
G Pebp1 phosphatidylethanolamine binding protein 1 onset ISO mRNA:decreased expression:hippocampus RGD PMID:15941609, PMID:11853019, PMID:7770119, PMID:10210891 RGD:2302869, RGD:2302863, RGD:2302735, RGD:2302864 NCBI chr12:45,026,948...45,031,148
Ensembl chr12:45,026,886...45,031,145
JBrowse link
G Pgrmc1 progesterone receptor membrane component 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25390692 NCBI chr  X:123,205,869...123,213,880
Ensembl chr  X:123,205,869...123,213,882
JBrowse link
G Phactr2 phosphatase and actin regulator 2 ISO mRNA: splice variants RGD PMID:20590401 RGD:6483097 NCBI chr 1:7,352,050...7,633,991
Ensembl chr 1:7,355,154...7,480,825
JBrowse link
G Picalm phosphatidylinositol binding clathrin assembly protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:19734902 PMID:21460841 NCBI chr 1:154,377,229...154,458,966
Ensembl chr 1:154,377,247...154,458,425
JBrowse link
G Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma ISO RGD PMID:20025958 RGD:6482689 NCBI chr 6:51,465,696...51,501,234
Ensembl chr 6:51,465,908...51,498,337
JBrowse link
G Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 onset ISO DNA:polymorphism: :p.M326I (human) RGD PMID:12185156 RGD:1625215 NCBI chr 2:31,742,326...31,826,882
Ensembl chr 2:31,745,088...31,826,867
JBrowse link
G Pin1 peptidylprolyl cis/trans isomerase, NIMA-interacting 1 ISS OMIM:104300 | OMIM:502500 | OMIM:604154 | OMIM:608907 MouseDO NCBI chr 8:21,669,236...21,680,615
Ensembl chr 8:21,669,236...21,680,615
JBrowse link
G Plau plasminogen activator, urokinase no_association ISO ClinVar Annotator: match by term: Alzheimer disease, late-onset, susceptibility to
CTD Direct Evidence: marker/mechanism
DNA:SNPs: :multiple
mRNA:increased expression:brain
ClinVar
CTD
PMID:12898287 PMID:15615772 PMID:15616835 PMID:16341549 PMID:28492532, PMID:21860091, PMID:18076107, PMID:19889475, PMID:21790972 RGD:6483793, RGD:6484115, RGD:6483807, RGD:6483794 NCBI chr15:3,644,296...3,650,765
Ensembl chr15:3,644,769...3,650,819
JBrowse link
G Plcb1 phospholipase C beta 1 ISS
ISO
OMIM:104300 | OMIM:502500 | OMIM:604154 | OMIM:608907 MouseDO PMID:8534418 RGD:13825140 NCBI chr 3:127,721,244...128,419,565
Ensembl chr 3:128,155,069...128,419,545
JBrowse link
G Plcd1 phospholipase C, delta 1 ISO RGD PMID:8534418 RGD:13825140 NCBI chr 8:127,753,514...127,782,070
Ensembl chr 8:127,753,539...127,782,070
JBrowse link
G Plcg1 phospholipase C, gamma 1 ISO RGD PMID:8534418 RGD:13825140 NCBI chr 3:156,727,642...156,758,307
Ensembl chr 3:156,727,642...156,758,307
JBrowse link
G Plcg2 phospholipase C, gamma 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28714976 NCBI chr19:50,039,410...50,173,543
Ensembl chr19:50,045,020...50,173,220
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 chr10:86,340,893...86,342,501
Ensembl chr10:86,340,940...86,342,858
JBrowse link
G Pon1 paraoxonase 1 ISO DNA:polymorphisms:multiple SNPs (human) RGD PMID:16319130 RGD:5509926 NCBI chr 4:30,249,749...30,276,297
Ensembl chr 4:30,249,742...30,276,372
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 chr 4:30,344,705...30,380,119
Ensembl chr 4:30,344,709...30,380,119
JBrowse link
G Pon3 paraoxonase 3 ISO DNA:polymorphisms:multiple SNPs (human) RGD PMID:16319130 RGD:5509926 NCBI chr 4:30,311,981...30,338,679
Ensembl chr 4:30,311,982...30,338,679
JBrowse link
G Poted POTE ankyrin domain family member D ISO ClinVar Annotator: match by term: Alzheimer's disease ClinVar PMID:16369530 PMID:16921174 PMID:24691562 NCBI chr17:66,634,457...66,668,342
Ensembl chr17:66,657,755...66,667,853
JBrowse link
G Ppara peroxisome proliferator activated receptor alpha no_association ISO DNA:SNP:CDS:rs1800206, p.L162V (human)
No association found for any polymorphisms of PPARA, including rs1800206 (human)
RGD PMID:12938026, PMID:17850927 RGD:5561899, RGD:5561928 NCBI chr 7:126,618,872...126,687,282
Ensembl chr 7:126,619,196...126,681,752
JBrowse link
G Pparg peroxisome proliferator-activated receptor gamma no_association
susceptibility
ISO DNA:SNPs: :multiple (human)
CTD Direct Evidence: marker/mechanism
DNA:SNP:cds:p.P12A(human)
CTD PMID:15993441 PMID:16407166 PMID:30328325, PMID:18573313, PMID:17440948 RGD:2301852, RGD:2311642 NCBI chr 4:147,274,055...147,399,383
Ensembl chr 4:147,274,107...147,399,380
JBrowse link
G Ppargc1a PPARG coactivator 1 alpha disease_progression ISO
IDA
mRNA, protein:decreased expression:hippocampal formation (human) RGD PMID:22540007, PMID:22510382, PMID:19273754 RGD:6484260, RGD:7242180, RGD:7242017 NCBI chr14:63,095,291...63,190,688
Ensembl chr14:63,095,720...63,187,009
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, PMID:23764848 RGD:10043802, RGD:10043802 NCBI chr10:82,800,704...82,816,735
Ensembl chr10:82,800,704...82,816,731
JBrowse link
G Ppp2r2b protein phosphatase 2, regulatory subunit B, beta ISO DNA:repeat RGD PMID:21029765 RGD:5686295 NCBI chr18:36,985,709...37,421,383
Ensembl chr18:36,985,714...37,245,809
JBrowse link
G Ppp3r1 protein phosphatase 3, regulatory subunit B, alpha disease_progression ISO DNA:SNP: :rs1868402 (human) RGD PMID:23727081, PMID:21223993 RGD:13830878, RGD:13830879 NCBI chr14:100,311,224...100,360,879
Ensembl chr14:100,311,173...100,360,879
JBrowse link
G Prkcb protein kinase C, beta ISO RGD PMID:8534418 RGD:13825140 NCBI chr 1:192,233,569...192,575,339
Ensembl chr 1:192,233,910...192,574,831
JBrowse link
G Prkn parkin RBR E3 ubiquitin protein ligase treatment ISO protein:increased expression:vessel,astrocyte: RGD PMID:24105468, PMID:19716418 RGD:10412735, RGD:10412736 NCBI chr 1:48,880,015...50,069,998 JBrowse link
G Prnp prion protein ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Alzheimer disease, early-onset, susceptibility to
CTD
ClinVar
PMID:1353341 PMID:1677164 PMID:1682813 PMID:1684089 PMID:1971924 PMID:2378641 PMID:2783132 PMID:7908444 PMID:8137139 PMID:9643750 PMID:9748018 PMID:9751723 PMID:9789072 PMID:10437852 PMID:10581230 PMID:10953203 PMID:11488277 PMID:11506406 PMID:11506411 PMID:11749972 PMID:11840201 PMID:12601712 PMID:12867116 PMID:12891686 PMID:14520676 PMID:14562104 PMID:14970845 PMID:15277640 PMID:15539564 PMID:15987701 PMID:16217673 PMID:16315279 PMID:16391566 PMID:16565881 PMID:16969862 PMID:17192785 PMID:18955686 PMID:19923577 PMID:25741868 NCBI chr 3:124,515,917...124,531,320
Ensembl chr 3:124,515,978...124,531,316
JBrowse link
G Psen1 presenilin 1 ISO DNA:missense mutations:cds:multiple (human)
ClinVar Annotator: match by term: Alzheimer disease
ClinVar Annotator: match by term: Alzheimer's disease
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Early-Onset Familial Alzheimer Disease
ClinVar
CTD
PMID:7596406 PMID:8773614 PMID:9384602 PMID:9851443 PMID:9851450 PMID:9915968 PMID:10643802 PMID:11389157 PMID:11524469 PMID:12192622 PMID:15003276 PMID:15622541 PMID:16033913 PMID:16216949 PMID:16449385 PMID:16651627 PMID:16669732 PMID:16923167 PMID:16952411 PMID:17192785 PMID:17573346 PMID:17854491 PMID:17962197 PMID:18227305 PMID:18350357 PMID:18525293 PMID:18667258 PMID:19111578 PMID:19659892 PMID:20194882 PMID:21959359 PMID:22507317 PMID:22810102 PMID:22906081 PMID:23861362 PMID:23990795 PMID:25333068 PMID:25352456 PMID:25714973 PMID:25741868 PMID:25937274 PMID:26166206 PMID:26242991 PMID:26467025 PMID:27117003 PMID:27312774 PMID:27357204 PMID:27535542 PMID:27644130 PMID:27930341 PMID:28448946 PMID:28492532 PMID:28554858 PMID:30279455, PMID:7596406, PMID:29641600 RGD:1302519, RGD:13782044 NCBI chr 6:107,169,514...107,221,000
Ensembl chr 6:107,169,528...107,216,798
JBrowse link
G Psen2 presenilin 2 severity ISO DNA:missense mutation:cds:p.N141I (human)
ClinVar Annotator: match by term: Alzheimer's disease
ClinVar Annotator: match by term: Early-Onset Familial Alzheimer Disease
CTD Direct Evidence: marker/mechanism
DNA:missense mutations:cds:p.N141I, p.M239V (human)
RGD
ClinVar
CTD
PMID:9050898 PMID:9384602 PMID:10976645 PMID:11723295 PMID:12925374 PMID:14623725 PMID:15663477 PMID:16474849 PMID:16651627 PMID:17186461 PMID:17345043 PMID:18667258 PMID:22312439 PMID:22503161 PMID:23383383 PMID:23558482 PMID:23861362 PMID:24880964 PMID:25104557 PMID:25604855 PMID:25741868 PMID:25937274 PMID:26242991 PMID:26467025 PMID:26507310 PMID:26899768 PMID:27060961 PMID:28492532 PMID:29181857 PMID:30045758, PMID:10976645, PMID:9246481 RGD:9743900, RGD:9743900, RGD:1302522 NCBI chr13:98,513,600...98,539,347
Ensembl chr13:98,513,570...98,530,724
JBrowse link
G Ptger4 prostaglandin E receptor 4 ISO RGD PMID:22044482 RGD:6483525 NCBI chr 2:54,951,625...54,966,470
Ensembl chr 2:54,952,821...54,963,448
JBrowse link
G Ptgs1 prostaglandin-endoperoxide synthase 1 IMP
ISO
protein:increased expression:cerebral cortex RGD PMID:21701788, PMID:10560656, PMID:20157512 RGD:5688147, RGD:5688249, RGD:5688156 NCBI chr 3:15,560,685...15,582,339
Ensembl chr 3:15,560,712...15,582,344
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 IMP
ISO
mRNA:decreased expression:neocortex, hippocampus RGD PMID:21701788, PMID:8892355, PMID:9740394 RGD:5688147, RGD:5688254, RGD:5688252 NCBI chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335
JBrowse link
G Ptpn5 protein tyrosine phosphatase, non-receptor type 5 severity ISO protein:increased expression:prefrontal cortex (human)
protein:increased expression:dentate gyrus (mouse)
RGD PMID:20427654, PMID:16237174, PMID:20956308 RGD:9835008, RGD:10044037, RGD:9835007 NCBI chr 1:103,197,918...103,258,309
Ensembl chr 1:103,197,915...103,256,823
JBrowse link
G Pyy peptide YY ISO CTD Direct Evidence: marker/mechanism CTD PMID:11709213 NCBI chr10:90,047,989...90,049,155
Ensembl chr10:90,047,993...90,049,112
JBrowse link
G Rbm11 RNA binding motif protein 11 ISO ClinVar Annotator: match by term: Alzheimer's disease ClinVar PMID:16369530 PMID:16921174 PMID:24691562 NCBI chr11:14,005,704...14,015,723
Ensembl chr11:14,005,732...14,014,962
JBrowse link
G Rcan1 regulator of calcineurin 1 ISO RGD PMID:11483593 RGD:1580889 NCBI chr11:32,539,689...32,620,274
Ensembl chr11:32,539,683...32,550,539
JBrowse link
G Reg1a regenerating family member 1 alpha ISO mRNA:increased expression:brain (human) RGD PMID:2394826 RGD:9850119 NCBI chr 4:109,497,962...109,500,626
Ensembl chr 4:109,497,962...109,501,082
JBrowse link
G Reln reelin ISO protein:increased expression:cerebrospinal fluid (human)
protein: increased expression: brain
CTD Direct Evidence: marker/mechanism
CTD PMID:20610758, PMID:12645087, PMID:20025970 RGD:729771, RGD:13207521 NCBI chr 4:9,347,533...9,774,257
Ensembl chr 4:9,347,528...9,773,670
JBrowse link
G RGD1563888 similar to DNA segment, Chr 16, ERATO Doi 472, expressed ISO ClinVar Annotator: match by term: Alzheimer's disease ClinVar PMID:16369530 PMID:16921174 PMID:24691562 NCBI chr11:17,073,296...17,120,235
Ensembl chr11:17,076,980...17,130,120
JBrowse link
G RT1-Db1 RT1 class II, locus Db1 ISO RGD PMID:21473952 RGD:5147563 NCBI chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
JBrowse link
G Runx1 RUNX family transcription factor 1 ISO associated with Down Syndrome RGD PMID:20946940 RGD:6482829 NCBI chr11:32,765,147...33,003,061
Ensembl chr11:32,769,165...33,003,021
JBrowse link
G S100b S100 calcium binding protein B severity ISO
IEP
protein:decreased expression:cerebrospinal fluid RGD PMID:21080947, PMID:19705461, PMID:20105309, PMID:20953641 RGD:5508775, RGD:5508798, RGD:5508787, RGD:5508780 NCBI chr20:13,130,633...13,142,856
Ensembl chr20:13,130,636...13,142,856
JBrowse link
G Samsn1 SAM domain, SH3 domain and nuclear localization signals, 1 ISO ClinVar Annotator: match by term: Alzheimer's disease ClinVar PMID:16369530 PMID:16921174 PMID:24691562 NCBI chr11:14,252,088...14,405,825
Ensembl chr11:14,253,848...14,304,725
JBrowse link
G Sell selectin L severity ISO protein:decreased expression:plasma RGD PMID:21484243 RGD:5685677 NCBI chr13:82,369,820...82,387,774
Ensembl chr13:82,369,493...82,387,631
JBrowse link
G Selp selectin P severity ISO protein:decreased expression:plasma RGD PMID:21484243 RGD:5685677 NCBI chr13:82,428,914...82,464,629
Ensembl chr13:82,429,063...82,464,628
JBrowse link
G Serpine2 serpin family E member 2 ISO RGD PMID:2813392 RGD:2317937 NCBI chr 9:85,560,852...85,629,410
Ensembl chr 9:85,560,863...85,626,094
JBrowse link
G Serpinf1 serpin family F member 1 IDA
ISO
protein:increased expression:cerebrospinal fluid, serum (human) RGD PMID:17073149, PMID:28320113 RGD:2312353, RGD:27226702 NCBI chr10:62,241,750...62,254,145
Ensembl chr10:62,241,756...62,254,287
JBrowse link
G Shc1 SHC adaptor protein 1 ISO protein:increased phosphorylation:neuron RGD PMID:15837797 RGD:1643185 NCBI chr 2:188,745,503...188,757,066
Ensembl chr 2:188,745,503...188,757,066
JBrowse link
G Sirt1 sirtuin 1 treatment ISO protein:increased expression:forebrain (mouse) RGD PMID:17581637, PMID:16751189 RGD:2290573, RGD:10047116 NCBI chr20:26,831,971...26,851,587
Ensembl chr20:26,833,357...26,852,199
JBrowse link
G Sirt3 sirtuin 3 ISO mRNA:increased expression:brain RGD PMID:23139766 RGD:9586045 NCBI chr 1:213,613,502...213,636,061
Ensembl chr 1:213,613,513...213,635,546
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:21743130, PMID:21333939 RGD:5686430, RGD:5686673 NCBI chr16:8,682,668...8,685,529
Ensembl chr16:8,682,669...8,685,529
JBrowse link
G Slc25a4 solute carrier family 25 member 4 ISO RGD PMID:21958963 RGD:9681463 NCBI chr16:49,266,903...49,270,698
Ensembl chr16:49,266,903...49,270,698
JBrowse link
G Slc2a1 solute carrier family 2 member 1 ISO RGD PMID:8179300 RGD:2313620 NCBI chr 5:138,154,677...138,182,897
Ensembl chr 5:138,154,673...138,182,897
JBrowse link
G Slc2a3 solute carrier family 2 member 3 ISO RGD PMID:8179300 RGD:2313620 NCBI chr 4:155,549,991...155,626,018
Ensembl chr 4:155,408,233...155,631,856
JBrowse link
G Slc2a4 solute carrier family 2 member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24055495 NCBI chr10:56,552,921...56,558,562
Ensembl chr10:56,552,983...56,558,487
JBrowse link
G Slc30a4 solute carrier family 30 member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16580781 NCBI chr 3:114,805,919...114,828,154
Ensembl chr 3:114,805,922...114,828,154
JBrowse link
G Slc30a6 solute carrier family 30 member 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16580781 NCBI chr 6:22,197,003...22,226,364
Ensembl chr 6:22,197,040...22,226,421
JBrowse link
G Slc8a1 solute carrier family 8 member A1 ISO protein:altered expression:synaptosome: RGD PMID:21382638 RGD:13628395 NCBI chr 6:4,244,076...4,564,262
Ensembl chr 6:4,258,991...4,520,604
JBrowse link
G Slc8a2 solute carrier family 8 member A2 ISO protein:altered expression:synaptosome: RGD PMID:21382638 RGD:13628395 NCBI chr 1:78,029,555...78,054,042
Ensembl chr 1:78,025,995...78,060,111
JBrowse link
G Slc8a3 solute carrier family 8 member A3 ISO protein:altered expression:parietal cortex, synaptosome: RGD PMID:21382638 RGD:13628395 NCBI chr 6:104,889,500...105,099,408
Ensembl chr 6:104,891,376...105,097,054
JBrowse link
G Snap91 synaptosome associated protein 91 ISO protein:decreased expression:dentate gyrus molecular layer,hippocampus,entorhinal, tempocampal corteces:
denntate gyrus, hippocampus, entorhinal cortex
RGD PMID:20847448, PMID:20847448 RGD:13506238, RGD:13506238 NCBI chr 8:94,447,558...94,564,772
Ensembl chr 8:94,447,550...94,564,525
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 chr 4:90,782,412...90,883,236
Ensembl chr 4:90,782,374...90,882,285
JBrowse link
G Sncb synuclein, beta ISO mRNA:decreased expression:brain RGD PMID:11578596 RGD:6480194 NCBI chr17:10,384,472...10,392,776
Ensembl chr17:10,384,511...10,392,843
JBrowse link
G Sncg synuclein, gamma ISO protein:increased expression:cerebrospinal fluid RGD PMID:18577885 RGD:6478792 NCBI chr16:10,722,110...10,726,648
Ensembl chr16:10,722,106...10,726,707
JBrowse link
G Snrnp70 small nuclear ribonucleoprotein U1 subunit 70 ISO protein:increased expression:cerebral cortex (human) RGD PMID:24023061 RGD:10448959 NCBI chr 1:101,367,470...101,388,153
Ensembl chr 1:101,367,471...101,388,129
JBrowse link
G Snrpa small nuclear ribonucleoprotein polypeptide A ISO protein:increased expression:cerebral cortex (human) RGD PMID:24023061 RGD:10448959 NCBI chr 1:83,999,670...84,008,429
Ensembl chr 1:83,999,671...84,008,293
JBrowse link
G Sod1 superoxide dismutase 1 ISO
IEP
mRNA:altered expression:hippocampus, hypothalamus (rat)
protein:decreased expression:frontal lobe (human)
RGD PMID:22072713, PMID:20027333, PMID:22072713 RGD:8655610, RGD:8657017, RGD:8655610 NCBI chr11:30,363,282...30,368,858
Ensembl chr11:30,363,280...30,368,862
JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19374891, PMID:16369462 RGD:1579972 NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
JBrowse link
G Sorl1 sortilin related receptor 1 ISO RGD PMID:15313836 RGD:1581303 NCBI chr 8:46,228,077...46,287,171 JBrowse link
G Spint1 serine peptidase inhibitor, Kunitz type 1 ISO protein:decreased expression:parietal cortex (human) RGD PMID:9743567 RGD:1581317 NCBI chr 3:111,049,132...111,061,991
Ensembl chr 3:111,049,118...111,062,011
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, PMID:18813209 RGD:10403051, RGD:10403051 NCBI chr10:88,790,401...88,842,263
Ensembl chr10:88,790,408...88,842,233
JBrowse link
G Stox1 storkhead box 1 severity ISO protein:increased expression:CA4 field of hippocampus (human) RGD PMID:20110611 RGD:11554028 NCBI chr20:32,276,857...32,353,677
Ensembl chr20:32,276,658...32,353,677
JBrowse link
G Syp synaptophysin ISO
IEP
protein:decreased expression:dentate gyrus molecular layer,hippocampus,entorhinal, tempocampal corteces:
mRNA,protein:decreased expression:hippocampus, temporal cortex
denntate gyrus, hippocampus, entorhinal cortex
RGD PMID:20847448, PMID:20847448, PMID:20847448 RGD:13506238, RGD:13506238, RGD:13506238 NCBI chr  X:15,694,699...15,709,244
Ensembl chr  X:15,695,566...15,707,436
JBrowse link
G Tap2 transporter 2, ATP binding cassette subfamily B member susceptibility ISO DNA:SNP: :(rs241448)(human) RGD PMID:16595160 RGD:6482265 NCBI chr20:3,995,544...4,009,587
Ensembl chr20:3,995,544...4,009,587
JBrowse link
G Tardbp TAR DNA binding protein ISO protein:increased expression, phosphorylation:motor cortex
protein:increased expression:brain
RGD PMID:21376022, PMID:21070634 RGD:5687139, RGD:5687178 NCBI chr 5:165,432,089...165,442,232
Ensembl chr 5:165,432,095...165,442,048
JBrowse link
G Tbp TATA box binding protein ISO protein:increased expression:hippocampus, entorhinal cortex (human) RGD PMID:15193429 RGD:5684338 NCBI chr 1:57,491,381...57,509,335
Ensembl chr 1:57,491,643...57,508,449
JBrowse link
G Tdo2 tryptophan 2,3-dioxygenase treatment ISO RGD PMID:27190010 RGD:13601984 NCBI chr 2:180,897,059...180,914,919
Ensembl chr 2:180,897,011...180,914,940
JBrowse link
G Tf transferrin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Transferrin variant c1/c2
CTD
ClinVar
PMID:9272172 PMID:15060098 PMID:17192785 PMID:20029940 NCBI chr 8:111,694,570...111,721,275
Ensembl chr 8:111,673,547...111,721,333
JBrowse link
G Tfam transcription factor A, mitochondrial susceptibility ISO DNA:SNP: :rs1937 (human)
CTD Direct Evidence: marker/mechanism
DNA:SNP:intron:IVS4+113A>G (rs2306604) (human)
CTD PMID:17192785, PMID:21799244, PMID:17537576 RGD:6767575, RGD:6771185 NCBI chr20:18,594,057...18,606,106
Ensembl chr20:18,594,037...18,606,151
JBrowse link
G Thbd thrombomodulin ISO RGD PMID:15760641 RGD:5685018 NCBI chr 3:142,748,673...142,752,325
Ensembl chr 3:142,748,674...142,752,325
JBrowse link
G Timp2 TIMP metallopeptidase inhibitor 2 ISO RGD PMID:12614934 RGD:1580169 NCBI chr10:107,338,465...107,386,072
Ensembl chr10:107,338,465...107,386,072
JBrowse link
G Tlr4 toll-like receptor 4 ISO RGD PMID:16157451 RGD:1580680 NCBI chr 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052
JBrowse link
G Tmed10 transmembrane p24 trafficking protein 10 ISO protein:decreased expression:brain cortex (human) RGD PMID:18652896 RGD:2317276 NCBI chr 6:109,169,739...109,205,004
Ensembl chr 6:109,169,741...109,205,004
JBrowse link
G Tmprss15 transmembrane serine protease 15 ISO ClinVar Annotator: match by term: Alzheimer's disease ClinVar PMID:16369530 PMID:16921174 PMID:24691562 NCBI chr11:17,561,591...17,684,903
Ensembl chr11:17,561,596...17,684,903
JBrowse link
G Tnf tumor necrosis factor no_association
onset
susceptibility
ISO DNA:polymorphism:promoter:multiple(human)
DNA:polymorphism:promoter:-308G>A(human)
protein:decreased expression:brain:
DNA:haploltype:promoter:-863A>C,-308G>A(human)
protein:increased secretion:serum:
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Alzheimer disease, protection against
CTD
ClinVar
PMID:10400991 PMID:16908746 PMID:17192785, PMID:12962917, PMID:18834925, PMID:15468911, PMID:9772027, PMID:16516271, PMID:16908746, PMID:18992723, PMID:18992723 RGD:1580320, RGD:13825257, RGD:13825256, RGD:13825255, RGD:13825253, RGD:13825250, RGD:13825248, RGD:13825248 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A no_association ISO protein:increased expression:brain:
protein:increased expression:cerebrospinal fluid:
RGD PMID:20110607, PMID:21978728, PMID:17724122, PMID:17267158 RGD:13825249, RGD:13825268, RGD:13825267, RGD:13825266 NCBI chr 4:157,864,905...157,877,634
Ensembl chr 4:157,864,969...157,877,633
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 chr 5:163,136,390...163,167,299
Ensembl chr 5:163,136,390...163,167,299
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 chr 1:80,617,749...80,630,253
Ensembl chr 1:80,618,154...80,630,038
JBrowse link
G Tp53 tumor protein p53 ISO RGD PMID:17581637 RGD:2290573 NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
JBrowse link
G Tph1 tryptophan hydroxylase 1 ISO RGD PMID:15182943 RGD:1580467 NCBI chr 1:102,669,868...102,699,442
Ensembl chr 1:102,669,868...102,699,442
JBrowse link
G Tpi1 triosephosphate isomerase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19374891 NCBI chr 4:157,328,375...157,331,905
Ensembl chr 4:157,328,379...157,331,905
JBrowse link
G Tpp1 tripeptidyl peptidase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10320038 NCBI chr 1:170,588,036...170,594,159
Ensembl chr 1:170,588,035...170,594,168
JBrowse link
G Trem2 triggering receptor expressed on myeloid cells 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24663666 PMID:28714976 NCBI chr 9:14,611,541...14,618,076
Ensembl chr 9:14,611,561...14,618,013
JBrowse link
G Tsc2 TSC complex subunit 2 ISO RGD PMID:16341938 RGD:1580518 NCBI chr10:13,962,006...13,996,684
Ensembl chr10:13,961,947...13,996,584
JBrowse link
G Ttr transthyretin ISO RGD PMID:16552785 RGD:1580525 NCBI chr18:15,532,963...15,542,180
Ensembl chr18:15,532,963...15,540,177
JBrowse link
G Uchl1 ubiquitin C-terminal hydrolase L1 ISO RGD PMID:14722078 RGD:1580538 NCBI chr14:43,133,224...43,143,942
Ensembl chr14:43,133,218...43,143,973
JBrowse link
G Ucp1 uncoupling protein 1 ISO protein:decreased expression:plasma (human) RGD PMID:24498895 RGD:10045648 NCBI chr19:24,456,976...24,464,808
Ensembl chr19:24,456,976...24,464,807
JBrowse link
G Uqcrc1 ubiquinol-cytochrome c reductase core protein 1 ISO DNA:hypermethylation:promoter:
protein:decreased expression:temporal cortex
RGD PMID:26943237, PMID:11130185 RGD:11572212, RGD:13831335 NCBI chr 8:117,679,328...117,691,073
Ensembl chr 8:117,679,278...117,691,071
JBrowse link
G Usp25 ubiquitin specific peptidase 25 ISO ClinVar Annotator: match by term: Alzheimer's disease ClinVar PMID:16369530 PMID:16921174 PMID:24691562 NCBI chr11:15,436,080...15,558,646
Ensembl chr11:15,436,269...15,558,646
JBrowse link
G Vcp valosin-containing protein ISO ClinVar Annotator: match by term: Alzheimer's disease ClinVar PMID:30279455 NCBI chr 5:58,426,548...58,445,953
Ensembl chr 5:58,426,549...58,445,953
JBrowse link
G Vegfa vascular endothelial growth factor A ISO CTD Direct Evidence: marker/mechanism CTD PMID:15732116, PMID:15732116 RGD:1580571 NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
JBrowse link
G Vim vimentin ISO protein:increased expression:brain RGD PMID:19728994, PMID:19728994 RGD:6480519, RGD:6480519 NCBI chr17:80,882,715...80,891,200
Ensembl chr17:80,882,666...80,891,212
JBrowse link
G Vldlr very low density lipoprotein receptor ISO DNA:repeat RGD PMID:7550352 RGD:737739 NCBI chr 1:245,236,819...245,273,688
Ensembl chr 1:245,237,736...245,269,205
JBrowse link
G Vsnl1 visinin-like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25806004 NCBI chr 6:37,001,360...37,121,969
Ensembl chr 6:37,001,356...37,122,023
JBrowse link
G Wt1 WT1 transcription factor ISO RGD PMID:12914969 RGD:1580623 NCBI chr 3:95,133,221...95,180,574
Ensembl chr 3:95,133,713...95,180,564
JBrowse link
G Wwox WW domain-containing oxidoreductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:30820047 NCBI chr19:46,761,353...47,695,247 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 chr 8:103,774,125...103,883,563
Ensembl chr 8:103,774,358...103,878,899
JBrowse link
Alzheimer's disease 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G A2m alpha-2-macroglobulin ISO OMIM NCBI chr 4:154,309,426...154,359,138
Ensembl chr 4:154,309,426...154,359,137
JBrowse link
G App amyloid beta precursor protein ISO ClinVar Annotator: match by term: Alzheimer disease, type 1
ClinVar Annotator: match by term: APP POLYMORPHISM
ClinVar
OMIM
PMID:1303239 PMID:1303275 PMID:1415269 PMID:1520398 PMID:1634237 PMID:1671712 PMID:1678057 PMID:1678058 PMID:1679288 PMID:1908231 PMID:1925564 PMID:1944558 PMID:7686976 PMID:7806491 PMID:7845465 PMID:8154870 PMID:8290965 PMID:8499923 PMID:8886002 PMID:9328472 PMID:9754958 PMID:9848098 PMID:10097173 PMID:10441572 PMID:10611368 PMID:10821838 PMID:10867787 PMID:11063718 PMID:11311152 PMID:11487570 PMID:11528419 PMID:11568920 PMID:11910111 PMID:11978821 PMID:12034808 PMID:15119738 PMID:15365148 PMID:15488330 PMID:15502844 PMID:15668448 PMID:15776278 PMID:16505331 PMID:18413473 PMID:18437002 PMID:19281847 PMID:19363265 PMID:20452985 PMID:22503161 PMID:22702962 PMID:23224319 PMID:23515184 PMID:24033266 PMID:24390130 PMID:24524897 PMID:24650794 PMID:24677022 PMID:24694184 PMID:24880964 PMID:25138979 PMID:25948718 PMID:26402770 PMID:26467025 PMID:26803359 PMID:27838006 PMID:28304299 PMID:28350801 PMID:28492532 PMID:29263818 PMID:29859640 PMID:30279455 NCBI chr11:24,425,013...24,641,872
Ensembl chr11:24,425,005...24,641,858
JBrowse link
G Hfe homeostatic iron regulator ISO OMIM NCBI chr17:43,661,276...43,669,327
Ensembl chr17:43,661,222...43,669,985
JBrowse link
G Mpo myeloperoxidase ISO OMIM NCBI chr10:75,087,892...75,098,260
Ensembl chr10:75,087,892...75,098,260
JBrowse link
G Nos3 nitric oxide synthase 3 ISO OMIM NCBI chr 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410
JBrowse link
G Plau plasminogen activator, urokinase ISO OMIM NCBI chr15:3,644,296...3,650,765
Ensembl chr15:3,644,769...3,650,819
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
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:19608551 PMID:24055016 NCBI chr 8:77,107,355...77,237,483
Ensembl chr 8:77,107,536...77,237,483
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, LATE-ONSET ClinVar PMID:24336208 PMID:25832408 PMID:25832410 PMID:25832411 NCBI chr 1:84,339,269...84,361,686
Ensembl chr 1:84,339,261...84,353,725
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: Late onset familial Alzheimer disease OMIM
ClinVar
PMID:2987927 PMID:3922972 PMID:7263700 PMID:8346443 PMID:8618665 PMID:8644717 PMID:9343467 PMID:9932938 PMID:10213549 PMID:10799751 PMID:11835377 PMID:11940689 PMID:11940706 PMID:14741101 PMID:15048896 PMID:15184602 PMID:15326261 PMID:15557508 PMID:15668424 PMID:19605830 PMID:22381401 PMID:23060451 PMID:23296339 PMID:23571587 PMID:24033266 PMID:25741868 PMID:27260402 PMID:30311386 NCBI chr 1:80,612,894...80,616,820
Ensembl chr 1:80,612,895...80,617,057
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 chr 1:80,612,894...80,616,820
Ensembl chr 1:80,612,895...80,617,057
JBrowse link
G Kif5c kinesin family member 5C ISO protein:decreased expression:cerebellum (human) RGD PMID:24569455 RGD:12859086 NCBI chr 3:35,014,157...35,257,417
Ensembl chr 3:35,014,538...35,257,407
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 PMID:20301387 PMID:20642453 PMID:21885347 PMID:25243190 PMID:26930193 PMID:28492532 NCBI chr 7:132,857,311...133,018,549
Ensembl chr 7:132,857,628...133,018,584
JBrowse link
G Psen1 presenilin 1 ISO ClinVar Annotator: match by term: Early onset Alzheimer disease with behavioral disturbance
ClinVar Annotator: match by term: Alzheimer disease, type 3
ClinVar Annotator: match by term: ALZHEIMER DISEASE, FAMILIAL, 3
OMIM
ClinVar
PMID:1985297 PMID:2025423 PMID:2793034 PMID:7550356 PMID:7581374 PMID:7596406 PMID:7623584 PMID:7942850 PMID:8538334 PMID:8634711 PMID:8634712 PMID:8733303 PMID:8733749 PMID:8755489 PMID:8773614 PMID:8837617 PMID:8910898 PMID:8931704 PMID:8986743 PMID:9007097 PMID:9007311 PMID:9051814 PMID:9052708 PMID:9126060 PMID:9172170 PMID:9189043 PMID:9196071 PMID:9225696 PMID:9384602 PMID:9436726 PMID:9443865 PMID:9450754 PMID:9521418 PMID:9521423 PMID:9540849 PMID:9544835 PMID:9546792 PMID:9680315 PMID:9712537 PMID:9728730 PMID:9804121 PMID:9831473 PMID:9851443 PMID:9851450 PMID:9915968 PMID:10090481 PMID:10327206 PMID:10401002 PMID:10430510 PMID:10439444 PMID:10441572 PMID:10447269 PMID:10448055 PMID:10468510 PMID:10525535 PMID:10548420 PMID:10594046 PMID:10631141 PMID:10643802 PMID:10720282 PMID:10764737 PMID:10783295 PMID:10811883 PMID:11027672 PMID:11070093 PMID:11079548 PMID:11094121 PMID:11124426 PMID:11395394 PMID:11402113 PMID:11432849 PMID:11504726 PMID:11524469 PMID:11568920 PMID:11684347 PMID:11710891 PMID:11895378 PMID:12048239 PMID:12119298 PMID:12192622 PMID:12370477 PMID:12433263 PMID:12484344 PMID:12493631 PMID:12493737 PMID:12552037 PMID:12660785 PMID:12752408 PMID:12805290 PMID:12810495 PMID:12891668 PMID:14557582 PMID:14743455 PMID:14769392 PMID:14966176 PMID:15003276 PMID:15115757 PMID:15205973 PMID:15337637 PMID:15534260 PMID:15622541 PMID:15718035 PMID:15772361 PMID:15776278 PMID:16033913 PMID:16116115 PMID:16216949 PMID:16227967 PMID:16267640 PMID:16344340 PMID:16533963 PMID:16628450 PMID:16669732 PMID:16710641 PMID:16752394 PMID:16805926 PMID:16897084 PMID:16923167 PMID:16930450 PMID:16952411 PMID:17108687 PMID:17186461 PMID:17197420 PMID:17254019 PMID:17288597 PMID:17320044 PMID:17366635 PMID:17431506 PMID:17502474 PMID:17522104 PMID:17545141 PMID:17553989 PMID:17854491 PMID:17931627 PMID:17962197 PMID:17968601 PMID:18350357 PMID:18525293 PMID:18580586 PMID:18587238 PMID:18637955 PMID:18667258 PMID:18760694 PMID:18797263 PMID:19021905 PMID:19111578 PMID:19196715 PMID:19276550 PMID:19276551 PMID:19457079 PMID:19659892 PMID:19915487 PMID:20047059 PMID:20145736 PMID:20157243 PMID:20164095 PMID:20194882 PMID:20332427 PMID:20484632 PMID:20628413 PMID:20634584 PMID:20729396 PMID:20847418 PMID:21094210 PMID:21357415 PMID:21373759 PMID:21559374 PMID:21725313 PMID:21919498 PMID:21952501 PMID:21959359 PMID:22115042 PMID:22118943 PMID:22232349 PMID:22312439 PMID:22343824 PMID:22426017 PMID:22460587 PMID:22461631 PMID:22475797 PMID:22503161 PMID:22505025 PMID:22508690 PMID:22581678 PMID:22584618 PMID:22689192 PMID:22766738 PMID:22810102 PMID:22906081 PMID:23085935 PMID:23114514 PMID:23341831 PMID:23380992 PMID:23383383 PMID:23409063 PMID:23539189 PMID:23570890 PMID:23588422 PMID:23792692 PMID:23843529 PMID:23861362 PMID:23885714 PMID:23990795 PMID:24011544 PMID:24093083 PMID:24121961 PMID:24217025 PMID:24304563 PMID:24352661 PMID:24418614 PMID:24698269 PMID:24773620 PMID:24860142 PMID:24880964 PMID:24928124 PMID:25174650 PMID:25182737 PMID:25239621 PMID:25326637 PMID:25333068 PMID:25471389 PMID:25741723 PMID:25741868 PMID:25921538 PMID:25937274 PMID:25959826 PMID:26051801 PMID:26166206 PMID:26194182 PMID:26214276 PMID:26242991 PMID:26243271 PMID:26337232 PMID:26438723 PMID:26462451 PMID:26467025 PMID:26756738 PMID:26826204 PMID:26923592 PMID:27014058 PMID:27073747 PMID:27100199 PMID:27100200 PMID:27206484 PMID:27264813 PMID:27312774 PMID:27357204 PMID:27454811 PMID:27535542 PMID:27614114 PMID:27644130 PMID:27777022 PMID:27793474 PMID:27810638 PMID:27930341 PMID:28350801 PMID:28492532 PMID:28550247 PMID:28554858 PMID:29316780 PMID:29404783 PMID:29571857 PMID:30045758 PMID:30090657 PMID:30311386 PMID:30528841 PMID:30590039 PMID:31153663 PMID:31686034 NCBI chr 6:107,169,514...107,221,000
Ensembl chr 6:107,169,528...107,216,798
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 CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:80,612,894...80,616,820
Ensembl chr 1:80,612,895...80,617,057
JBrowse link
G Psen1 presenilin 1 ISO ClinVar Annotator: match by synonym: ALZHEIMER DISEASE, FAMILIAL, 4
ClinVar Annotator: match by term: Alzheimer disease, type 4
ClinVar PMID:8910898 PMID:9189043 PMID:9804121 PMID:15205973 PMID:27777022 PMID:27930341 PMID:28350801 PMID:28492532 NCBI chr 6:107,169,514...107,221,000
Ensembl chr 6:107,169,528...107,216,798
JBrowse link
G Psen2 presenilin 2 ISO ClinVar Annotator: match by term: Alzheimer disease, type 4
ClinVar Annotator: match by term: Alzheimer disease familial type 4
ClinVar Annotator: match by OMIM:606889
OMIM
ClinVar
PMID:7550356 PMID:7638622 PMID:7651536 PMID:8661049 PMID:8939861 PMID:8986743 PMID:9050898 PMID:9384602 PMID:9450781 PMID:9813158 PMID:10631141 PMID:10846187 PMID:11193137 PMID:11723295 PMID:12549925 PMID:12925374 PMID:14623725 PMID:14681895 PMID:14769392 PMID:15130954 PMID:15389756 PMID:15663477 PMID:15776278 PMID:16155344 PMID:16474849 PMID:16533963 PMID:16959576 PMID:17186461 PMID:17345043 PMID:18350357 PMID:18427071 PMID:18667258 PMID:18727676 PMID:18833506 PMID:18834536 PMID:19073399 PMID:19659892 PMID:20333730 PMID:20375137 PMID:20420489 PMID:20457965 PMID:20458010 PMID:20634584 PMID:21234330 PMID:21483645 PMID:21544564 PMID:21559247 PMID:21911706 PMID:21959359 PMID:22115042 PMID:22118943 PMID:22249458 PMID:22312439 PMID:22412221 PMID:22475797 PMID:22503161 PMID:22505025 PMID:22753229 PMID:22805202 PMID:22834455 PMID:23365231 PMID:23383383 PMID:23558482 PMID:23861362 PMID:23990795 PMID:24093083 PMID:24559647 PMID:24594196 PMID:24669286 PMID:24704512 PMID:24754482 PMID:24844686 PMID:24880964 PMID:24928124 PMID:25104557 PMID:25323700 PMID:25604855 PMID:25741868 PMID:25937274 PMID:26166204 PMID:26242991 PMID:26467025 PMID:26507310 PMID:26899768 PMID:27060961 PMID:27293189 PMID:27883225 PMID:28008242 PMID:28243073 PMID:28350801 PMID:28492532 PMID:29181857 PMID:30045758 PMID:30279455 PMID:30412492 PMID:30822648 PMID:30954774 PMID:31020001 PMID:225104557 NCBI chr13:98,513,600...98,539,347
Ensembl chr13:98,513,570...98,530,724
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
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:25741868 PMID:25807283 PMID:26141617 PMID:27066581 PMID:28492532 NCBI chr 7:12,742,433...12,762,423
Ensembl chr 7:12,742,433...12,762,341
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 App amyloid beta precursor protein ISO ClinVar Annotator: match by term: Alzheimer disease, early-onset, with cerebral amyloid angiopathy ClinVar PMID:16369530 PMID:19047566 NCBI chr11:24,425,013...24,641,872
Ensembl chr11:24,425,005...24,641,858
JBrowse link
Alzheimer's Disease, Familial, 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G App amyloid beta precursor protein ISO ClinVar Annotator: match by term: ALZHEIMER DISEASE, FAMILIAL, 1 ClinVar PMID:1303239 PMID:1303275 PMID:8499923 PMID:9754958 PMID:9848098 PMID:10821838 PMID:11311152 PMID:11528419 PMID:15365148 PMID:15488330 PMID:15502844 PMID:18413473 PMID:19363265 PMID:23224319 PMID:24033266 PMID:25948718 PMID:26402770 PMID:26467025 PMID:26803359 PMID:28304299 PMID:28350801 PMID:28492532 PMID:29263818 PMID:29859640 PMID:30279455 NCBI chr11:24,425,013...24,641,872
Ensembl chr11:24,425,005...24,641,858
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 chr 6:107,169,514...107,221,000
Ensembl chr 6:107,169,528...107,216,798
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 Psen1 presenilin 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Alzheimer disease, familial, 3, with spastic paraparesis and apraxia
CTD
ClinVar
PMID:11920851 PMID:15534188 NCBI chr 6:107,169,514...107,221,000
Ensembl chr 6:107,169,528...107,216,798
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, with spastic paraparesis and unusual plaques
ClinVar Annotator: match by term: Alzheimer disease, familial, 3, with unusual plaques
ClinVar Annotator: match by term: Alzheimer disease, familial, 3, with spastic paraparesis and unusual plaques
ClinVar PMID:7550356 PMID:8755489 PMID:9172170 PMID:9546792 PMID:10720282 PMID:11524469 PMID:12370477 PMID:12493737 PMID:14557582 PMID:15159497 PMID:15732120 PMID:19667325 PMID:27930341 PMID:28492532 NCBI chr 6:107,169,514...107,221,000
Ensembl chr 6:107,169,528...107,216,798
JBrowse link
amyotrophic lateral sclerosis type 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vcp valosin-containing protein ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia
ClinVar Annotator: match by OMIM:613954
OMIM
ClinVar
PMID:15034582 PMID:16247064 PMID:16321991 PMID:16790606 PMID:16984901 PMID:17329348 PMID:17763460 PMID:17889967 PMID:18341608 PMID:19225410 PMID:19237541 PMID:19364651 PMID:19704082 PMID:20008565 PMID:20104022 PMID:20512113 PMID:20604808 PMID:21145000 PMID:21320982 PMID:21387114 PMID:21816654 PMID:21822278 PMID:21920633 PMID:21984748 PMID:22078486 PMID:22137929 PMID:22270372 PMID:22686199 PMID:22898872 PMID:22900631 PMID:22909335 PMID:23029473 PMID:23056506 PMID:23152587 PMID:23169451 PMID:23333620 PMID:23498975 PMID:24196964 PMID:24829604 PMID:25125609 PMID:25388089 PMID:25492614 PMID:25617006 PMID:25618255 PMID:25741868 PMID:25775548 PMID:26105173 PMID:26467025 PMID:26555887 PMID:27209344 PMID:27226613 PMID:27768726 PMID:27790088 PMID:28130640 PMID:28360103 PMID:28430856 PMID:28492532 PMID:28692196 PMID:29754758 PMID:29899994 NCBI chr 5:58,426,548...58,445,953
Ensembl chr 5:58,426,549...58,445,953
JBrowse link
amyotrophic lateral sclerosis type 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ubqln2 ubiquilin 2 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia
ClinVar Annotator: match by OMIM:300857
OMIM
ClinVar
PMID:21857683 PMID:24771548 PMID:25333069 PMID:25616961 PMID:25741868 PMID:26075709 PMID:28492532 NCBI chr  X:18,723,313...18,726,732
Ensembl chr  X:18,723,341...18,726,732
JBrowse link
amyotrophic lateral sclerosis type 22 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tuba4a tubulin, alpha 4A ISO ClinVar Annotator: match by OMIM:616208 OMIM
ClinVar
PMID:25374358 NCBI chr 9:82,415,599...82,419,918
Ensembl chr 9:82,415,605...82,419,288
JBrowse link
amyotrophic lateral sclerosis type 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fus FUS RNA binding protein ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 6
DNA:mutations:cds:
ClinVar Annotator: match by OMIM:608030
OMIM
ClinVar
PMID:12840784 PMID:12858291 PMID:19251627 PMID:19251628 PMID:19450904 PMID:19741215 PMID:19861302 PMID:20018407 PMID:20124201 PMID:20138404 PMID:20142531 PMID:20385912 PMID:20544928 PMID:20577002 PMID:20579074 PMID:20606625 PMID:20660363 PMID:20668259 PMID:20668261 PMID:20699327 PMID:21158017 PMID:21261515 PMID:21280085 PMID:21604077 PMID:21881207 PMID:21907581 PMID:21943958 PMID:21949354 PMID:22055719 PMID:22292843 PMID:22340366 PMID:22645277 PMID:22722621 PMID:22863194 PMID:22980027 PMID:23046859 PMID:23056579 PMID:23085990 PMID:23577159 PMID:23731953 PMID:23834483 PMID:23881933 PMID:24033266 PMID:24080306 PMID:24204307 PMID:24262168 PMID:24280224 PMID:24439481 PMID:24899262 PMID:24908169 PMID:25173930 PMID:25274782 PMID:25289647 PMID:25324524 PMID:25382069 PMID:25457557 PMID:25585530 PMID:25625564 PMID:25631824 PMID:25741868 PMID:26251528 PMID:26452761 PMID:26467025 PMID:26601740 PMID:26725112 PMID:26795035 PMID:27123482 PMID:28273913 PMID:28492532 PMID:28642336 PMID:30279455 PMID:30349096 PMID:30879340, PMID:19251628 RGD:9685712 NCBI chr 1:199,412,805...199,426,705
Ensembl chr 1:199,412,834...199,426,702
JBrowse link
amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Park7 Parkinsonism associated deglycase ISO ClinVar Annotator: match by term: Guam disease ClinVar PMID:25741868 NCBI chr 5:167,982,438...168,004,724
Ensembl chr 5:167,982,439...168,004,724
JBrowse link
G Trpm7 transient receptor potential cation channel, subfamily M, member 7 susceptibility
no_association
ISO DNA:mutation:cds: p.T1482I (human)
CTD Direct Evidence: marker/mechanism
CTD
OMIM
PMID:16051700, PMID:19405049 RGD:5685005, RGD:5685008 NCBI chr 3:119,258,189...119,347,084
Ensembl chr 3:119,259,467...119,330,345
JBrowse link
Autosomal Dominant Diffuse Lewy Body Disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gba glucosylceramidase beta ISO ClinVar Annotator: match by term: Autosomal dominant diffuse Lewy body disease ClinVar PMID:1348297 PMID:1415223 PMID:1558964 PMID:1589760 PMID:1704891 PMID:1897529 PMID:1899336 PMID:1971142 PMID:1972019 PMID:1974409 PMID:2117855 PMID:2269438 PMID:2309702 PMID:2502917 PMID:2508065 PMID:2569551 PMID:3353383 PMID:7475546 PMID:7627184 PMID:7789963 PMID:8118463 PMID:8213821 PMID:8294487 PMID:8450045 PMID:8487270 PMID:8516282 PMID:8544197 PMID:8733893 PMID:8790604 PMID:9040001 PMID:9153297 PMID:9279145 PMID:9554746 PMID:10079102 PMID:10636167 PMID:10649495 PMID:10796875 PMID:11148530 PMID:11259172 PMID:11359469 PMID:11783951 PMID:11933202 PMID:11992489 PMID:12204005 PMID:12595585 PMID:12838552 PMID:14757438 PMID:15146461 PMID:16061944 PMID:16293621 PMID:17395504 PMID:17427031 PMID:18332251 PMID:18338393 PMID:18434642 PMID:18586596 PMID:18979180 PMID:18987351 PMID:19217815 PMID:19260119 PMID:19286695 PMID:19816973 PMID:19846850 PMID:20662857 PMID:20729108 PMID:20816920 PMID:20947659 PMID:20980259 PMID:21257328 PMID:21472771 PMID:21704274 PMID:21742527 PMID:21745757 PMID:22160715 PMID:22192918 PMID:22220748 PMID:22451204 PMID:22592100 PMID:22968580 PMID:23430873 PMID:23588557 PMID:23676350 PMID:24033266 PMID:24126159 PMID:24482953 PMID:24522292 PMID:24685312 PMID:24756352 PMID:25127542 PMID:25249066 PMID:25456120 PMID:25653295 PMID:25741868 PMID:25946768 PMID:26096741 PMID:26117366 PMID:26868973 PMID:26905200 PMID:27312774 PMID:27682613 PMID:27717005 PMID:28492532 PMID:28779532 PMID:28923368 PMID:29527153 PMID:30311386 NCBI chr 2:188,511,781...188,522,602
Ensembl chr 2:188,516,582...188,522,601
JBrowse link
G Snca synuclein alpha ISO ClinVar Annotator: match by term: Autosomal dominant diffuse Lewy body disease ClinVar PMID:9197268 PMID:9499430 PMID:9506559 PMID:9827625 PMID:10417297 PMID:11261505 PMID:14593171 PMID:14755720 PMID:15451224 PMID:15451225 PMID:16358335 PMID:17251522 PMID:17489854 PMID:17625105 PMID:18195271 PMID:18704525 PMID:18852445 PMID:18852448 PMID:18852449 PMID:19632874 PMID:20340137 PMID:28492532 NCBI chr 4:90,782,412...90,883,236
Ensembl chr 4:90,782,374...90,882,285
JBrowse link
CADASIL term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Htra1 HtrA serine peptidase 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:201,499,067...201,548,508
Ensembl chr 1:201,499,028...201,548,513
JBrowse link
G Notch3 notch receptor 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
CTD
ClinVar
PMID:15229130 PMID:25741868 PMID:26467025 NCBI chr 7:14,138,495...14,189,688
Ensembl chr 7:14,138,495...14,189,688
JBrowse link
CADASIL 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Notch3 notch receptor 3 ISO ClinVar Annotator: match by term: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy type 1
ClinVar Annotator: match by term: Recurrent subcortical infarcts
OMIM
ClinVar
PMID:3484396 PMID:8878478 PMID:9388399 PMID:10227618 PMID:10371548 PMID:10712431 PMID:10716263 PMID:10854111 PMID:10969905 PMID:11102981 PMID:11486103 PMID:11559313 PMID:11706120 PMID:11715067 PMID:11755616 PMID:11757773 PMID:11771160 PMID:11784372 PMID:12136071 PMID:12146805 PMID:12196662 PMID:12482954 PMID:12721871 PMID:12754354 PMID:12810003 PMID:12821756 PMID:12821764 PMID:14714274 PMID:15229130 PMID:15287509 PMID:15350543 PMID:15364702 PMID:15378071 PMID:15694192 PMID:15776792 PMID:15834039 PMID:15857853 PMID:15981641 PMID:15995828 PMID:16009764 PMID:16580020 PMID:16717210 PMID:16730748 PMID:16864835 PMID:17122431 PMID:17323840 PMID:17390743 PMID:17879447 PMID:18765654 PMID:18948701 PMID:19006080 PMID:19043263 PMID:19174371 PMID:19180562 PMID:19242647 PMID:19245392 PMID:19252787 PMID:19259619 PMID:19293235 PMID:19359623 PMID:19417009 PMID:19528524 PMID:19542611 PMID:19576955 PMID:19825845 PMID:20038773 PMID:20071773 PMID:20167921 PMID:20301673 PMID:20851625 PMID:20857162 PMID:20935329 PMID:20981092 PMID:21387384 PMID:21555590 PMID:21616505 PMID:21737310 PMID:21852154 PMID:21940951 PMID:22006983 PMID:22019870 PMID:22082899 PMID:22153900 PMID:22159056 PMID:22218279 PMID:22367839 PMID:22373597 PMID:22623959 PMID:22664156 PMID:22795385 PMID:22878905 PMID:22936449 PMID:23025651 PMID:23412372 PMID:23584202 PMID:23602593 PMID:23639391 PMID:23649698 PMID:23844775 PMID:23847153 PMID:24033266 PMID:24086431 PMID:24139282 PMID:24344756 PMID:24425116 PMID:24886907 PMID:24929957 PMID:24936512 PMID:25260786 PMID:25326637 PMID:25344745 PMID:25412914 PMID:25604251 PMID:25623805 PMID:25741868 PMID:25801821 PMID:25819272 PMID:25834748 PMID:25870235 PMID:25929831 PMID:25973016 PMID:25980907 PMID:26002683 PMID:26261665 PMID:26270344 PMID:26308724 PMID:26368811 PMID:26467025 PMID:26646783 PMID:26715087 PMID:26806700 PMID:26850715 PMID:26856460 PMID:26889213 PMID:26894465 PMID:27174004 PMID:27293347 PMID:27350778 PMID:27423596 PMID:27770446 PMID:27844030 PMID:27881154 PMID:27884173 PMID:27890607 PMID:28334938 PMID:28479817 PMID:28492532 PMID:28601945 PMID:28710804 PMID:28991717 PMID:29188607 PMID:29449082 PMID:29980472 PMID:30311053 PMID:30311386 PMID:30402942 PMID:30956055 PMID:31028544 PMID:32581362 NCBI chr 7:14,138,495...14,189,688
Ensembl chr 7:14,138,495...14,189,688
JBrowse link
CADASIL 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Htra1 HtrA serine peptidase 1 ISO ClinVar Annotator: match by term: Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 ClinVar
OMIM
PMID:19387015 PMID:25741868 PMID:26063658 PMID:30981321 PMID:32101834 PMID:32581362 NCBI chr 1:201,499,067...201,548,508
Ensembl chr 1:201,499,028...201,548,513
JBrowse link
Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Htra1 HtrA serine peptidase 1 ISO ClinVar Annotator: match by term: Cerebrovascular disease with thin skin, alopecia, and disc disease
ClinVar Annotator: match by term: CARASIL
ClinVar Annotator: match by term: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
ClinVar Annotator: match by OMIM:600142
OMIM
ClinVar
PMID:11889251 PMID:18316707 PMID:19387015 PMID:21115960 PMID:21482952 PMID:22900900 PMID:23963851 PMID:24500651 PMID:24535794 PMID:25741868 PMID:25770224 PMID:25772074 PMID:25957642 PMID:26063658 PMID:26467025 PMID:27164673 PMID:32101834 PMID:32581362 NCBI chr 1:201,499,067...201,548,508
Ensembl chr 1:201,499,028...201,548,513
JBrowse link
chromosome 3-linked frontotemporal dementia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chmp2b charged multivesicular body protein 2B ISO ClinVar Annotator: match by term: Frontotemporal Dementia, Chromosome 3-Linked
ClinV