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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:Alzheimer's disease
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Accession:DOID:10652 term browser browse the term
Definition:A tauopathy that is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability and results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid. (DO)
Synonyms:exact_synonym: AD;   Alzheimer Disease, Susceptibility To;   Alzheimer Sclerosis;   Alzheimer Syndrome;   Alzheimer Type Dementia;   Alzheimer Type Dementia (ATD);   Alzheimer Type Senile Dementia;   Alzheimer dementia (AD);   Alzheimer disease;   Alzheimers dementia;   Early Onset Alzheimer Disease;   Familial Alzheimer Disease (FAD);   Focal Onset Alzheimer's Disease;   SDAT;   acute confusional senile dementia;   presenile Alzheimer dementia;   presenile dementia;   primary senile degenerative dementia;   senile dementia
 narrow_synonym: ALZHEIMER DISEASE, EARLY-ONSET, WITH CEREBRAL AMYLOID ANGIOPATHY;   ALZHEIMER DISEASE, PROTECTION AGAINST;   EARLY-ONSET FAMILIAL ALZHEIMER DISEASE;   Late Onset Alzheimer Disease;   late-onset Alzheimers disease;   presenile and senile dementia
 related_synonym: Alzheimer Disease, Early-Onset, Susceptibility To;   Alzheimer Disease, Late-Onset, Susceptibility To;   Alzheimer disease, association with;   alpha-2-macroglobulin polymorphism;   familial Alzheimer disease;   transferrin variant C1/C2
 primary_id: MESH:D000544
 alt_id: OMIM:502500
 xref: EFO:0000249;   EFO:1001870;   GARD:10254;   ICD9CM:331.0;   MONDO:0004975;   NCI:C2866
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
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: ALPHA-2-MACROGLOBULIN POLYMORPHISM
DNA:polymorphism: :p.I1000V (human)
DNA:polymorphisms: :multiple		 RGD
ClinVar		 PMID:1370808 PMID:1717945 PMID:9697696 PMID:9811940 PMID:10319853 More... RGD:10046014 RGD:10046015 RGD:10046016 RGD:1300322 NCBI chr27:36,654,328...36,695,775 JBrowse link
G ABAT 4-aminobutyrate aminotransferase ISO RGD PMID:1627256 RGD:10046060 NCBI chr 6:33,385,779...33,471,348
Ensembl chr 6:33,376,996...33,471,326 		JBrowse link
G ABCA1 ATP binding cassette subfamily A member 1 ISO RGD PMID:15024730 RGD:1300323 NCBI chr11:60,761,669...60,869,753
Ensembl chr11:60,761,655...60,890,496 		JBrowse link
G ABCA7 ATP binding cassette subfamily A member 7 ISO ClinVar Annotator: match by term: Alzheimer disease, early onset ClinVar PMID:25741868 PMID:25807283 PMID:26141617 PMID:27066581 PMID:28492532 NCBI chr20:57,668,371...57,684,111
Ensembl chr20:57,667,706...57,677,342 		JBrowse link
G ABCB1 ATP binding cassette subfamily B member 1 ISO RGD PMID:25991605 RGD:13801010 NCBI chr14:13,644,891...13,852,829
Ensembl chr14:13,542,647...13,742,727 		JBrowse link
G ABCC1 ATP binding cassette subfamily C member 1 ISO RGD PMID:25991605 RGD:13801010 NCBI chr 6:27,855,702...27,950,140
Ensembl chr 6:27,855,702...27,989,331 		JBrowse link
G ABI3 ABI family member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28714976 NCBI chr 9:25,374,823...25,385,016
Ensembl chr 9:25,374,525...25,385,003 		JBrowse link
G ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase ISO RGD PMID:19700222 RGD:8693570 NCBI chr 9:53,118,462...53,262,092
Ensembl chr 9:53,119,641...53,261,307 		JBrowse link
G ACADVL acyl-CoA dehydrogenase very long chain ISO protein:decreased expression:brain RGD PMID:25260493 RGD:10047114 NCBI chr 5:32,189,191...32,194,255
Ensembl chr 5:32,186,502...32,327,990 		JBrowse link
G ACE angiotensin I converting enzyme ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:9916793 PMID:10643899 PMID:14872014 PMID:17192785 PMID:19080340 More... RGD:2325232 NCBI chr 9:11,497,182...11,516,362
Ensembl chr 9:11,497,182...11,516,358 		JBrowse link
G ACHE acetylcholinesterase ISO CTD Direct Evidence: marker/mechanism RGD
CTD		 PMID:16581404 PMID:22944069 PMID:23047022 RGD:5509844 NCBI chr 6:8,874,747...8,879,926
Ensembl chr 6:8,873,584...8,879,702 		JBrowse link
G ADAM10 ADAM metallopeptidase domain 10 ISO protein:decreased expression:cerebral cortex, hippocampus
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:23296102 PMID:24792732 PMID:30820047 RGD:13703032 RGD:13703037 NCBI chr30:23,605,724...23,732,038
Ensembl chr30:23,606,517...23,731,823 		JBrowse link
G ADAM17 ADAM metallopeptidase domain 17 onset ISO protein:decreased expression:cerebral cortex, hippocampus
DNA:missense mutation: :p.R215I (rs142946965) (human)		 RGD PMID:24792732 PMID:29988083 RGD:13703037 RGD:13782143 NCBI chr17:6,589,874...6,638,788
Ensembl chr17:6,589,878...6,638,731 		JBrowse link
G ADAM2 ADAM metallopeptidase domain 2 ISO protein:increased expression:brain RGD PMID:10686596 RGD:10047127 NCBI chr16:25,781,508...25,912,988
Ensembl chr16:25,782,267...25,912,891 		JBrowse link
G ADAM9 ADAM metallopeptidase domain 9 ISO protein:decreased expression:hippocampus RGD PMID:24792732 RGD:13703037 NCBI chr16:26,413,345...26,551,293
Ensembl chr16:26,414,583...26,551,122 		JBrowse link
G ADAMTS1 ADAM metallopeptidase with thrombospondin type 1 motif 1 ISO ClinVar Annotator: match by term: Alzheimer disease ClinVar PMID:16369530 PMID:16921174 PMID:24691562 PMID:25741868 NCBI chr31:22,169,821...22,178,879
Ensembl chr31:22,170,381...22,178,945 		JBrowse link
G ADAMTS5 ADAM metallopeptidase with thrombospondin type 1 motif 5 ISO ClinVar Annotator: match by term: Alzheimer disease ClinVar PMID:16369530 PMID:16921174 PMID:24691562 PMID:25741868 NCBI chr31:22,242,901...22,289,453
Ensembl chr31:22,248,092...22,289,802 		JBrowse link
G ADIPOQ adiponectin, C1Q and collagen domain containing ISO protein:increased expression:plasma
protein:increased expression:cerebrospinal fluid, plasma		 RGD PMID:20727007 PMID:22213409 RGD:5686377 RGD:5686881 NCBI chr34:19,398,310...19,410,519
Ensembl chr34:19,354,825...19,409,844 		JBrowse link
G ADNP activity dependent neuroprotector homeobox ISO RGD PMID:17720885 PMID:18199809 RGD:2312791 RGD:2312792 NCBI chr24:37,211,776...37,245,938
Ensembl chr24:37,213,942...37,243,702 		JBrowse link
G ADRA1A adrenoceptor alpha 1A susceptibility ISO RGD PMID:114750 RGD:5688374 NCBI chr25:30,690,959...30,801,484
Ensembl chr25:30,693,571...30,801,486 		JBrowse link
G ADRB3 adrenoceptor beta 3 ISO DNA:missense mutation:cds:p.W64R (human) RGD PMID:17440948 RGD:2311642 NCBI chr16:27,445,601...27,446,796
Ensembl chr16:27,445,601...27,447,521 		JBrowse link
G AGER advanced glycosylation end-product specific receptor treatment ISO protein:increased expression:brain (human)
protein:increased expression:hippocampus (rat)
mRNA:increased expression:hippocampus, cerebral cortex (mouse)		 RGD PMID:8751438 PMID:21593432 PMID:22415896 PMID:22745485 PMID:23164356 More... RGD:1300365 RGD:6784502 RGD:7244266 RGD:7244287 RGD:7245561 RGD:7245965 NCBI chr12:1,574,251...1,577,410
Ensembl chr12:1,574,251...1,577,129 		JBrowse link
G AGT angiotensinogen ISO protein:increased expression:cerebrospinal fluid RGD PMID:21297254 RGD:5129180 NCBI chr 4:8,681,192...8,694,059
Ensembl chr 4:8,683,798...8,693,880 		JBrowse link
G AGTR1 angiotensin II receptor type 1 treatment ISO protein:decreased expression:substantia nigra: RGD PMID:8666063 PMID:21929736 RGD:10047395 RGD:10047397 NCBI chr23:43,569,658...43,617,113
Ensembl chr23:43,614,035...43,616,238 		JBrowse link
G AIF1 allograft inflammatory factor 1 ISO protein:altered expression:hippocampus (mouse)
mRNA:increased expression:frontal cortex (human)		 RGD PMID:16340083 PMID:19084047 RGD:2313023 RGD:2313045 NCBI chr12:1,104,350...1,106,179
Ensembl chr12:1,104,394...1,106,177 		JBrowse link
G AIFM1 apoptosis inducing factor mitochondria associated 1 ISO protein:increased expression:cortex,nucleus:
protein:increased expression:basal forebrain,amygdala:		 RGD PMID:22536549 PMID:24915960 RGD:10053592 RGD:10053593 NCBI chr  X:101,275,027...101,307,551
Ensembl chr  X:101,275,017...101,307,367 		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 8:38,891,637...38,902,390
Ensembl chr 8:38,896,840...38,898,126 		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 2:79,334,179...79,343,880
Ensembl chr 2:79,334,205...79,343,007 		JBrowse link
G AKT1 AKT serine/threonine kinase 1 ISO protein:increased tyrosine phosphorylation:cerebral cortex RGD PMID:18023354 RGD:5509085 NCBI chr 8:72,317,399...72,335,686
Ensembl chr 8:72,317,869...72,335,193 		JBrowse link
G ALDH2 aldehyde dehydrogenase 2 family member onset ISO RGD PMID:15126281 RGD:1599042 NCBI chr26:9,319,109...9,361,021 JBrowse link
G ALOX15 arachidonate 15-lipoxygenase ISO protein:increased expression:brain RGD PMID:15111312 PMID:20570249 RGD:5509595 RGD:5509620 NCBI chr 5:31,883,544...31,891,357
Ensembl chr 5:31,882,501...32,038,119 		JBrowse link
G AMBRA1 autophagy and beclin 1 regulator 1 ISO RGD PMID:23910655 RGD:14390071 NCBI chr18:42,903,815...43,073,918
Ensembl chr18:42,932,513...43,072,827 		JBrowse link
G AMFR autocrine motility factor receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:22313999 NCBI chr 2:59,766,910...59,803,292
Ensembl chr 2:59,767,324...59,801,883 		JBrowse link
G ANXA5 annexin A5 ISO protein:increased expression:brain, plasma
protein:increased expression: plasma		 RGD PMID:20648654 RGD:7242030 NCBI chr19:18,419,936...18,450,088
Ensembl chr19:18,407,587...18,570,378 		JBrowse link
G AOC3 amine oxidase copper containing 3 severity ISO protein:increased expression:plasma RGD PMID:17393059 RGD:2313919 NCBI chr 9:20,158,581...20,179,773
Ensembl chr 9:20,157,410...20,241,376 		JBrowse link
G APBB1 amyloid beta precursor protein binding family B member 1 susceptibility
no_association		 ISO DNA:mutations::multiple
DNA:deletion:intron:
mRNA:altered expression:brain:
DNA:polymorphism:intron:		 RGD PMID:9799084 PMID:10723070 PMID:11099823 PMID:12727304 RGD:10054028 RGD:10054031 RGD:10054036 RGD:2301212 NCBI chr21:29,719,386...29,741,658
Ensembl chr21:29,719,589...29,759,046 		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 chr 3:71,454,814...71,830,482
Ensembl chr 3:71,454,585...71,826,749 		JBrowse link
G APC APC regulator of WNT signaling pathway ISO protein:increased expression:astrocyte RGD PMID:11547943 RGD:6484525 NCBI chr 3:252,052...380,506
Ensembl chr 3:253,081...322,993 		JBrowse link
G APH1A aph-1 homolog A, gamma-secretase subunit treatment ISO RGD PMID:28588301 PMID:29926633 RGD:13703122 RGD:13703123 NCBI chr17:59,510,805...59,514,431
Ensembl chr17:59,502,523...59,514,403 		JBrowse link
G APH1B aph-1 homolog B, gamma-secretase subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:33589840 NCBI chr30:27,852,784...27,887,618
Ensembl chr30:27,855,249...27,887,601 		JBrowse link
G APLP2 amyloid beta precursor like protein 2 ISO RGD PMID:8086458 RGD:734582 NCBI chr 5:4,704,155...4,786,011
Ensembl chr 5:4,705,491...4,786,079 		JBrowse link
G APOA1 apolipoprotein A1 resistance ISO DNA: : :transgenic model RGD PMID:19863188 PMID:20847045 RGD:5508212 RGD:5508218 NCBI chr 5:16,740,071...16,742,081
Ensembl chr 5:16,740,130...16,741,943 		JBrowse link
G APOA4 apolipoprotein A4 no_association ISO DNA:missense mutation:cds:p.Q360H (human)
DNA:snp, haplotype:cds:p.S147N (rs5104) (human)		 RGD PMID:9272683 PMID:10559562 PMID:16013913 PMID:21356380 RGD:5685638 RGD:5685661 RGD:5685681 RGD:5685682 NCBI chr 5:16,751,588...16,754,215
Ensembl chr 5:16,751,799...16,754,837 		JBrowse link
G APOC1 apolipoprotein C1 ISO CTD Direct Evidence: marker/mechanism RGD
CTD		 PMID:11825674 PMID:29107063 PMID:30319691 RGD:1578472 NCBI chr 1:110,520,177...110,522,563
Ensembl chr 1:110,520,198...110,631,412 		JBrowse link
G APOD apolipoprotein D ISO protein:increased expression:cerebrospinal fluid, hippocampus RGD PMID:9751198 RGD:2311209 NCBI chr33:30,490,149...30,504,804
Ensembl chr33:30,488,135...30,509,289 		JBrowse link
G APOE apolipoprotein E treatment
no_association
susceptibility		 ISO ClinVar Annotator: match by term: Alzheimer disease, early onset
DNA:polymorphism:promoter:-491A>T,-427T>C(human)
DNA:SNP: :APOEe4(human)
DNA:missense mutations, haplotype:cds:p.C112R, (rs7412) (human)		 RGD
ClinVar		 PMID:2987927 PMID:3353383 PMID:3922972 PMID:7263700 PMID:8294487 More... RGD:10427727 RGD:12904712 RGD:6903233 RGD:7771594 NCBI chr 1:110,525,717...110,528,534
Ensembl chr 1:110,525,722...110,528,440 		JBrowse link
G APP amyloid beta precursor protein susceptibility
treatment		 ISO ClinVar Annotator: match by term: Alzheimer disease | ClinVar Annotator: match by term: Alzheimer disease, early onset | ClinVar Annotator: match by term: Alzheimer disease, protection against | ClinVar Annotator: match by term: Alzheimer's disease | ClinVar Annotator: match by term: Early-Onset Familial Alzheimer Disease
associated with hypertension		 RGD
ClinVar		 PMID:1303172 PMID:1303239 PMID:1303275 PMID:1307241 PMID:1415269 More... RGD:13782047 RGD:1599199 NCBI chr31:21,351,207...21,614,466
Ensembl chr31:21,351,207...21,614,337 		JBrowse link
G AQP4 aquaporin 4 ISO RGD PMID:21107133 RGD:5148012 NCBI chr 7:61,855,617...61,868,953
Ensembl chr 7:61,855,744...61,865,089 		JBrowse link
G ARC activity regulated cytoskeleton associated protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:18503570 NCBI chr13:36,743,027...36,744,266 JBrowse link
G ASS1 argininosuccinate synthase 1 ISO protein:increased expression:brain, glial cell (human) RGD PMID:11556547 RGD:4139898 NCBI chr 9:53,425,228...53,478,007
Ensembl chr 9:53,425,448...53,477,904 		JBrowse link
G ATF2 activating transcription factor 2 ISO RGD PMID:9138733 PMID:15878807 RGD:10047399 RGD:10047400 NCBI chr36:19,032,376...19,103,382
Ensembl chr36:19,010,717...19,103,292 		JBrowse link
G ATM ATM serine/threonine kinase disease_progression ISO RGD PMID:23861893 RGD:10047419 NCBI chr 5:24,180,129...24,297,207
Ensembl chr 5:24,182,135...24,297,207 		JBrowse link
G ATP5F1A ATP synthase F1 subunit alpha treatment
onset		 ISO protein:increased modification:inferior parietal cortex (human)
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:19374891 PMID:25561935 RGD:13703046 RGD:13703056 NCBI chr 7:45,118,188...45,127,048
Ensembl chr 7:45,117,657...45,127,048 		JBrowse link
G ATP5F1D ATP synthase F1 subunit delta ISO RGD PMID:28474567 RGD:13792588 NCBI chr20:57,547,575...57,550,110
Ensembl chr20:57,547,371...57,549,722 		JBrowse link
G ATP5MG ATP synthase membrane subunit g ISO RGD PMID:28474567 RGD:13792588 NCBI chr 5:15,329,060...15,336,344 JBrowse link
G ATP5PF ATP synthase peripheral stalk subunit F6 ISO ClinVar Annotator: match by term: Alzheimer disease ClinVar PMID:16369530 PMID:16921174 PMID:24691562 PMID:25741868 NCBI chr31:21,207,080...21,212,220
Ensembl chr31:21,200,337...21,215,975 		JBrowse link
G ATP5PO ATP synthase peripheral stalk subunit OSCP treatment ISO RGD PMID:30266287 RGD:14696823 NCBI chr31:28,472,106...28,481,759 JBrowse link
G ATP6V0E1 ATPase H+ transporting V0 subunit e1 ISO RGD PMID:23211594 RGD:10401913 NCBI chr 4:39,378,007...39,409,968
Ensembl chr 4:39,378,004...39,409,981 		JBrowse link
G ATP7A ATPase copper transporting alpha ISO mRNA:decreased expression:pituitary gland, vascular plexus (rat) RGD PMID:20027333 RGD:8657017 NCBI chr  X:60,203,336...60,356,525
Ensembl chr  X:60,203,270...60,352,869 		JBrowse link
G ATR ATR serine/threonine kinase ISO RGD PMID:23861893 RGD:10047419 NCBI chr23:38,131,956...38,223,888
Ensembl chr23:38,132,788...38,224,016 		JBrowse link
G BACE1 beta-secretase 1 treatment
susceptibility		 ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:12824768 PMID:16407166 PMID:28763060 PMID:29038004 RGD:1358439 RGD:13782077 RGD:13782083 NCBI chr 5:16,308,953...16,319,100
Ensembl chr 5:16,308,944...16,319,100 		JBrowse link
G BACE2 beta-secretase 2 susceptibility ISO DNA:SNP,haplotype:exon:
mRNA,protein:increased expression:gyrus:		 RGD PMID:16023140 PMID:22074738 RGD:13782172 RGD:13782180 NCBI chr31:35,714,003...35,760,686
Ensembl chr31:35,713,149...35,760,681 		JBrowse link
G BAD BCL2 associated agonist of cell death treatment ISO protein:increased expression:temporal cortex, membrane RGD PMID:9507158 PMID:15339646 RGD:10053639 RGD:10053642 NCBI chr18:52,781,335...52,791,789
Ensembl chr18:52,781,921...52,791,405 		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 chr 9:923,519...992,254
Ensembl chr 9:923,493...981,923 		JBrowse link
G BAK1 BCL2 antagonist/killer 1 ISO protein:increased expression:temporal cortex, membrane RGD PMID:9507158 RGD:10053642 NCBI chr12:2,950,359...2,957,604
Ensembl chr12:2,948,364...2,957,018 		JBrowse link
G BARHL1 BarH like homeobox 1 ISO protein:decreased expression:brain RGD PMID:28956815 RGD:14390165 NCBI chr 9:51,704,590...51,711,726
Ensembl chr 9:51,703,936...51,712,093 		JBrowse link
G BAX BCL2 associated X, apoptosis regulator treatment ISO CTD Direct Evidence: marker/mechanism RGD
CTD		 PMID:8990132 PMID:16265626 PMID:17639989 PMID:18077176 PMID:21585051 More... RGD:10054039 RGD:10054047 RGD:10054049 RGD:13782186 RGD:13782188 RGD:2293073 NCBI chr 1:107,423,388...107,426,464
Ensembl chr 1:107,422,424...107,426,464 		JBrowse link
G BCAN brevican ISO protein:altered modification:brain RGD PMID:20180882 RGD:14392785 NCBI chr 7:41,313,578...41,330,178
Ensembl chr 7:41,313,579...41,330,178 		JBrowse link
G BCHE butyrylcholinesterase severity ISO CTD Direct Evidence: marker/mechanism RGD
CTD		 PMID:16973370 PMID:22012848 PMID:23022600 RGD:5687327 RGD:5688056 NCBI chr34:30,912,632...30,977,624
Ensembl chr34:30,912,632...30,977,583 		JBrowse link
G BCL2 BCL2 apoptosis regulator treatment ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:temporal cortex, membrane 		CTD
RGD		 PMID:9507158 PMID:16265626 PMID:17639989 PMID:18077176 PMID:21585051 More... RGD:10053642 RGD:10054047 RGD:10054049 RGD:11522767 RGD:13782186 RGD:13782188 RGD:2293073 NCBI chr 1:13,733,849...13,900,653
Ensembl chr 1:13,731,406...13,900,658 		JBrowse link
G BCL2L1 BCL2 like 1 ISO protein:increased expression:temporal cortex, membrane RGD PMID:9507158 RGD:10053642 NCBI chr24:21,145,214...21,209,425
Ensembl chr24:21,145,215...21,196,355 		JBrowse link
G BCL2L2 BCL2 like 2 treatment ISO protein:increased expression:hippocampus, cortex RGD PMID:15147516 PMID:20460763 RGD:14394419 RGD:14394421 NCBI chr 8:3,569,335...3,573,922
Ensembl chr 8:3,569,399...3,586,070 		JBrowse link
G BDNF brain derived neurotrophic factor no_association
treatment
onset		 ISO protein:decreased expression:parietal cortex
DNA:polymorphism: :p.V66M (human)
DNA:SNP:CDS:rs1048218 (human)
DNA:polymorphisms: :196G>A (p.V66M), 270C>T (human)
CTD Direct Evidence: marker/mechanism
DNA:polymorphisms, haplotypes: :196G>A (p.V66M), 270C>T, 11757G>C (human)		 RGD
CTD		 PMID:12654514 PMID:16565926 PMID:16627933 PMID:17344400 PMID:18780967 More... RGD:10058980 RGD:10059343 RGD:10059345 RGD:10059346 RGD:10059402 RGD:4891131 RGD:5508228 NCBI chr21:48,191,580...48,243,699
Ensembl chr21:48,192,670...48,204,480 		JBrowse link
G BECN1 beclin 1 ISO protein:decreased expression:gray matter RGD PMID:18497889 PMID:20863706 RGD:6483101 RGD:6483102 NCBI chr 9:20,204,203...20,215,081
Ensembl chr 9:20,204,220...20,214,236 		JBrowse link
G BIN1 bridging integrator 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21460841 PMID:33589840 NCBI chr19:23,503,934...23,534,407
Ensembl chr19:23,375,363...23,534,303 		JBrowse link
G BMP4 bone morphogenetic protein 4 ISO RGD PMID:19463786 RGD:10414082 NCBI chr 8:29,997,563...30,254,307
Ensembl chr 8:29,997,569...30,004,557 		JBrowse link
G BPTF bromodomain PHD finger transcription factor ISO protein:increased expression:microglia: RGD PMID:9792236 RGD:9586059 NCBI chr 9:12,586,107...12,703,296
Ensembl chr 9:12,590,333...12,703,422 		JBrowse link
G BRIP1 BRCA1 interacting helicase 1 ISO associated with Down Syndrome;protein:increased ubiquitination:frontal cortex (human) RGD PMID:25391381 RGD:11252150 NCBI chr 9:34,804,285...34,984,640
Ensembl chr 9:34,806,535...34,983,788 		JBrowse link
G BTG3 BTG anti-proliferation factor 3 ISO ClinVar Annotator: match by term: Alzheimer disease ClinVar PMID:16369530 PMID:16921174 PMID:24691562 NCBI chr31:14,079,228...14,117,347
Ensembl chr31:14,079,652...14,095,265 		JBrowse link
G C1QB complement C1q B chain ISO mRNA:increased expression:microglial cell RGD PMID:1362796 RGD:1599518 NCBI chr 2:76,650,440...76,655,546
Ensembl chr 2:76,650,586...76,655,549 		JBrowse link
G C2 complement C2 ISO DNA:SNP, haplotype: :p.E318D (rs9332739) (human) RGD PMID:22300950 RGD:7401250 NCBI chr12:1,363,656...1,399,732
Ensembl chr12:1,363,803...1,399,728 		JBrowse link
G C3 complement C3 ISO DNA:SNP: :rs22300199 (human) RGD PMID:22300950 RGD:7401250 NCBI chr20:53,566,226...53,598,365
Ensembl chr20:53,566,261...53,598,761 		JBrowse link
G C31H21orf91 chromosome 31 C21orf91 homolog ISO ClinVar Annotator: match by term: Alzheimer disease ClinVar PMID:16369530 PMID:16921174 PMID:24691562 NCBI chr31:14,225,807...14,254,801
Ensembl chr31:14,230,000...14,254,756 		JBrowse link
G C5AR1 complement C5a receptor 1 ISO protein:decreased expression:brain RGD PMID:12759460 RGD:5130177 NCBI chr 1:108,659,637...108,704,217
Ensembl chr 1:108,659,637...108,675,401 		JBrowse link
G CACNA1C calcium voltage-gated channel subunit alpha1 C ISO protein:decreased expression:brain RGD PMID:23403102 RGD:13782264 NCBI chr27:44,007,363...44,748,251
Ensembl chr27:44,008,020...44,746,429 		JBrowse link
G CALM1 calmodulin 1 ISO protein:decreased expression:cerebellar cortex:
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:11470324 RGD:13792493 NCBI chr 8:61,398,231...61,408,874
Ensembl chr 8:61,398,244...61,406,195 		JBrowse link
G CALML5 calmodulin like 5 ISO protein:altered expression:neuron,glia RGD PMID:11470324 RGD:13792493 NCBI chr 2:30,431,088...30,431,950
Ensembl chr 2:30,429,338...30,431,948 		JBrowse link
G CAMK2A calcium/calmodulin dependent protein kinase II alpha ISO RGD PMID:15621017 RGD:13681926 NCBI chr 4:58,800,818...58,865,830
Ensembl chr 4:58,800,813...58,865,830 		JBrowse link
G CAPN1 calpain 1 onset ISO protein:increased activity:brain: RGD PMID:8622780 PMID:11231011 RGD:13792495 RGD:13792663 NCBI chr18:51,983,266...52,010,831
Ensembl chr18:51,983,824...52,010,757 		JBrowse link
G CAPN2 calpain 2 ISO protein:increased expression:cytosol RGD PMID:9654354 RGD:13792661 NCBI chr 7:40,333,379...40,367,158
Ensembl chr 7:40,334,012...40,377,037 		JBrowse link
G CASP12 caspase 12 treatment ISO RGD PMID:29126976 RGD:13782165 NCBI chr 5:27,162,840...27,176,964
Ensembl chr 5:27,161,700...27,177,683 		JBrowse link
G CASP2 caspase 2 ISO RGD PMID:12633148 RGD:13782269 NCBI chr16:6,378,447...6,396,251
Ensembl chr16:6,379,913...6,396,646 		JBrowse link
G CASP3 caspase 3 treatment ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:10319819 PMID:12633148 PMID:18077176 PMID:29587274 PMID:29642617 More... RGD:13782186 RGD:13782188 RGD:13782269 RGD:13782291 RGD:734692 NCBI chr16:45,920,074...45,940,507
Ensembl chr16:45,920,071...45,940,505 		JBrowse link
G CASP6 caspase 6 ISO RGD PMID:12633148 RGD:13782269 NCBI chr32:29,897,706...29,910,522
Ensembl chr32:29,897,823...29,911,469 		JBrowse link
G CASP7 caspase 7 ISO DNA:SNPs, haplotype RGD PMID:12633148 PMID:26621834 RGD:11344490 RGD:13782269 NCBI chr28:24,599,866...24,630,018
Ensembl chr28:24,599,493...24,628,668 		JBrowse link
G CASP8 caspase 8 treatment ISO RGD PMID:12633148 PMID:16772874 PMID:29642617 RGD:13782268 RGD:13782269 RGD:13782291 NCBI chr37:10,362,071...10,402,108
Ensembl chr37:10,391,048...10,401,822 		JBrowse link
G CASP9 caspase 9 treatment ISO RGD PMID:12633148 PMID:29777699 RGD:13782186 RGD:13782269 NCBI chr 2:82,033,759...82,076,710
Ensembl chr 2:82,031,563...82,090,484 		JBrowse link
G CASS4 Cas scaffold protein family member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30320580 PMID:33589840 NCBI chr24:41,621,380...41,657,843
Ensembl chr24:41,622,430...41,657,028 		JBrowse link
G CAST calpastatin ISO protein:decreased expression:brain RGD PMID:19020018 PMID:20595388 RGD:5509799 RGD:5509809 NCBI chr 3:12,920,514...13,031,974
Ensembl chr 3:12,922,453...13,031,959 		JBrowse link
G CAV1 caveolin 1 ISO OMIM:104300 | OMIM:502500 | OMIM:604154 | OMIM:608907 MouseDO NCBI chr14:55,458,934...55,494,563
Ensembl chr14:55,461,048...55,492,935 		JBrowse link
G CCDC6 coiled-coil domain containing 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:33589840 NCBI chr 4:11,966,366...12,077,797
Ensembl chr 4:11,970,097...12,077,484 		JBrowse link
G CCL5 C-C motif chemokine ligand 5 ISO mRNA:increased expression:cerebrum, blood vessels (human) RGD PMID:18440671 RGD:4890025 NCBI chr 9:37,817,409...37,823,852
Ensembl chr 9:37,817,305...37,823,852 		JBrowse link
G CCNG1 cyclin G1 ISO protein:increased expression:brain, neuron RGD PMID:12214116 RGD:2316025 NCBI chr 4:47,800,697...47,808,259
Ensembl chr 4:47,801,575...47,808,211 		JBrowse link
G CCR1 chemokine (C-C motif) receptor 1 severity ISO RGD PMID:14595653 RGD:5688166 NCBI chr20:42,421,356...42,427,177
Ensembl chr20:42,421,356...42,426,958 		JBrowse link
G CCR5 C-C motif chemokine receptor 5 ISO protein:increased expression:brain, microglia (human) RGD PMID:9665462 PMID:15979806 RGD:4890446 RGD:4890447 NCBI chr20:42,293,288...42,297,952
Ensembl chr20:42,294,996...42,297,952 		JBrowse link
G CD2AP CD2 associated protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:21460840 PMID:21460841 PMID:30320580 NCBI chr12:15,538,215...15,683,619
Ensembl chr12:15,538,356...15,681,011 		JBrowse link
G CD36 CD36 molecule (CD36 blood group) ISO RGD PMID:16563568 RGD:6893531 NCBI chr18:20,299,808...20,375,856
Ensembl chr18:20,339,050...20,372,639 		JBrowse link
G CD40 CD40 molecule ISO RGD PMID:21414686 RGD:5490302 NCBI chr24:33,352,992...33,383,488
Ensembl chr24:33,372,930...33,383,301 		JBrowse link
G CD40LG CD40 ligand ISO protein:increased expression:frontal cortex, astrocyte RGD PMID:11755016 RGD:8547803 NCBI chr  X:107,001,421...107,023,007
Ensembl chr  X:107,010,890...107,023,006 		JBrowse link
G CDK5 cyclin dependent kinase 5 treatment ISO DNA:SNP:intron:g.149800G>C (human) RGD PMID:15917097 PMID:28085018 PMID:28269780 RGD:13508590 RGD:13782365 RGD:13792587 NCBI chr16:15,105,177...15,113,085
Ensembl chr16:15,101,230...15,109,269 		JBrowse link
G CDK5R1 cyclin dependent kinase 5 regulatory subunit 1 ISO DNA:SNP:3' UTR:rs735555 (human) RGD PMID:19154537 PMID:24725413 PMID:28578378 RGD:13782362 RGD:13782363 RGD:13782364 NCBI chr 9:40,481,111...40,502,689
Ensembl chr 9:40,501,646...40,502,569 		JBrowse link
G CDK7 cyclin dependent kinase 7 ISO protein:increased expression:neuron: RGD PMID:11124424 RGD:10059352 NCBI chr 2:54,317,472...54,350,633
Ensembl chr 2:54,317,534...54,350,742 		JBrowse link
G CEBPA CCAAT enhancer binding protein alpha ISO protein:decreased expression:forebrain, hindbrain (mouse)
mRNA:increased expression:hippocampus (human)		 RGD PMID:14769913 PMID:21492414 RGD:10401190 RGD:10401224 NCBI chr 1:118,846,252...118,851,045 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 chr24:36,661,294...36,663,162
Ensembl chr24:36,661,616...36,662,656 		JBrowse link
G CFTR CF transmembrane conductance regulator ISO protein:decreased expression:hypothalamus RGD PMID:14757935 RGD:11566025 NCBI chr14:56,290,417...56,452,919
Ensembl chr14:56,290,275...56,453,977 		JBrowse link
G CHAT choline O-acetyltransferase ISO DNA:polymorphism:CDS:4G>A RGD PMID:12401548 PMID:16834974 RGD:1358495 RGD:1600851 NCBI chr28:1,480,364...1,528,858
Ensembl chr28:1,482,202...1,528,776 		JBrowse link
G CHODL chondrolectin ISO ClinVar Annotator: match by term: Alzheimer disease ClinVar PMID:16369530 PMID:16921174 PMID:24691562 NCBI chr31:14,583,236...14,604,583
Ensembl chr31:14,495,684...14,604,562 		JBrowse link
G CHRNA4 cholinergic receptor nicotinic alpha 4 subunit ISO RGD PMID:15465084 RGD:1358509 NCBI chr24:47,024,948...47,036,507
Ensembl chr24:47,025,187...47,042,266 		JBrowse link
G CHRNA7 cholinergic receptor nicotinic alpha 7 subunit ISO CTD Direct Evidence: marker/mechanism RGD
CTD		 PMID:15465084 PMID:18071042 RGD:1358509 NCBI chr 3:36,852,082...37,164,930
Ensembl chr 3:36,852,543...36,978,399 		JBrowse link
G CHRNB2 cholinergic receptor nicotinic beta 2 subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:17192785 NCBI chr 7:42,786,505...42,797,976
Ensembl chr 7:42,789,600...42,795,722 		JBrowse link
G CIB1 calcium and integrin binding 1 ISO protein:decreased expression:brain (human) RGD PMID:15885068 RGD:10401854 NCBI chr 3:53,184,713...53,209,195
Ensembl chr 3:53,184,714...53,188,224 		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:23357097 PMID:23781009 PMID:23912676 RGD:10401861 RGD:10401862 RGD:10401872 NCBI chr13:47,684,409...47,825,733
Ensembl chr13:47,691,709...47,758,784 		JBrowse link
G CLU clusterin ISO ClinVar Annotator: match by term: Alzheimer disease ClinVar PMID:28492532 PMID:29476165 NCBI chr25:29,982,811...29,999,565
Ensembl chr25:29,982,811...29,999,563 		JBrowse link
G CNP 2',3'-cyclic nucleotide 3' phosphodiesterase ISO RGD PMID:21918687 RGD:6483333 NCBI chr 9:20,888,350...20,896,139
Ensembl chr 9:20,886,574...20,896,079 		JBrowse link
G CREBBP CREB binding protein treatment ISO protein:increased phosphorylation:hippocampus: RGD PMID:17760871 PMID:21149712 RGD:10059608 RGD:10059609 NCBI chr 6:37,410,201...37,536,688
Ensembl chr 6:37,409,930...37,534,176 		JBrowse link
G CRH corticotropin releasing hormone ISO protein:decreased expression:cerebral cortex (human)
CTD Direct Evidence: therapeutic		 RGD
CTD		 PMID:7477348 RGD:5508831 NCBI chr29:15,831,944...15,840,560
Ensembl chr29:15,831,944...15,834,384 		JBrowse link
G CRP C-reactive protein ISO RGD PMID:22202667 RGD:6904208 NCBI chr38:22,396,787...22,398,180
Ensembl chr38:22,396,263...22,399,166 		JBrowse link
G CSF1R colony stimulating factor 1 receptor ISO ClinVar Annotator: match by term: Alzheimer disease ClinVar PMID:30279455 NCBI chr 4:58,980,699...59,010,683
Ensembl chr 4:58,980,788...59,010,510 		JBrowse link
G CSNK1A1 casein kinase 1 alpha 1 ISO protein:increased expression:CA1 field of hippocampus: RGD PMID:10514399 RGD:10395229 NCBI chr 4:59,435,530...59,485,591
Ensembl chr 4:59,435,764...59,483,475 		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 chr 9:83,395...110,309
Ensembl chr 9:73,215...110,269 		JBrowse link
G CSNK1E casein kinase 1 epsilon ISO protein:increased expression:CA1 field of hippocampus: RGD PMID:10514399 RGD:10395229 NCBI chr10:26,386,646...26,412,429
Ensembl chr10:26,393,033...26,411,624 		JBrowse link
G CTNNB1 catenin beta 1 treatment ISO protein:decreased expression:nucleus:
protein:decreased expression:hippocampus
protein:increased expression:neuron,cytoplasm:		 RGD PMID:11226152 PMID:12610652 PMID:15781969 RGD:10395258 RGD:10395276 RGD:1302533 NCBI chr23:10,559,722...10,572,933
Ensembl chr23:10,559,718...10,572,927 		JBrowse link
G CTSD cathepsin D ISO protein:decreased expression:lymphocyte: RGD PMID:11304834 PMID:15907478 RGD:1358532 RGD:1358533 NCBI chr18:46,010,440...46,019,457
Ensembl chr18:46,010,440...46,019,457 		JBrowse link
G CTSS cathepsin S ISO RGD PMID:7717452 RGD:5686914 NCBI chr17:59,893,840...59,910,878
Ensembl chr17:59,893,840...59,910,849 		JBrowse link
G CXADR CXADR Ig-like cell adhesion molecule ISO ClinVar Annotator: match by term: Alzheimer disease ClinVar PMID:16369530 PMID:16921174 PMID:24691562 NCBI chr31:14,021,292...14,079,049
Ensembl chr31:14,021,303...14,078,847 		JBrowse link
G CYP19A1 cytochrome P450 family 19 subfamily A member 1 ISO DNA:polymorphism
mRNA:altered expression:cerebellum, hippocampus (human)		 RGD PMID:16882736 PMID:18180323 RGD:1600861 RGD:4889108 NCBI chr30:16,954,020...17,056,728
Ensembl chr30:16,957,215...16,988,353 		JBrowse link
G CYP2D15 cytochrome P450 family 2 subfamily D member 15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:7574463 NCBI chr10:23,255,259...23,259,380
Ensembl chr10:23,255,249...23,259,298 		JBrowse link
G CYP46A1 cytochrome P450 family 46 subfamily A member 1 ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:12232784 PMID:19286353 RGD:1358575 NCBI chr 8:68,064,898...68,095,537
Ensembl chr 8:68,041,344...68,095,212 		JBrowse link
G CYYR1 cysteine and tyrosine rich 1 ISO ClinVar Annotator: match by term: Alzheimer disease ClinVar PMID:16369530 PMID:16921174 PMID:24691562 PMID:25741868 NCBI chr31:21,855,863...21,960,188
Ensembl chr31:21,860,027...21,960,103 		JBrowse link
G DBN1 drebrin 1 disease_progression ISO protein:decreased expression:hippocampus,neuronal spine:
protein:decreased expression:hippocampal formation:
mRNA:decreased expression:parietal cortex, temporal cortex, hippocampus:		 RGD PMID:8838578 PMID:17912741 PMID:18338803 RGD:10395286 RGD:10398820 RGD:10398821 NCBI chr 4:35,899,969...35,913,015
Ensembl chr 4:35,889,392...35,912,507 		JBrowse link
G DDR1 discoidin domain receptor tyrosine kinase 1 treatment ISO RGD PMID:28863860 RGD:150519888 NCBI chr12:653,800...671,190
Ensembl chr12:653,807...670,543 		JBrowse link
G DHCR24 24-dehydrocholesterol reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23042211 NCBI chr 5:54,294,055...54,324,389
Ensembl chr 5:54,294,046...54,321,921 		JBrowse link
G DLG4 discs large MAGUK scaffold protein 4 ISO RGD PMID:24156266 RGD:13792688 NCBI chr 5:32,165,399...32,175,600
Ensembl chr 5:32,163,594...32,188,126 		JBrowse link
G DLST dihydrolipoamide S-succinyltransferase susceptibility ISO DNA:polymorphisms: : RGD PMID:10227647 RGD:1358587 NCBI chr 8:48,003,730...48,025,001
Ensembl chr 8:48,002,211...48,024,999 		JBrowse link
G DNM1 dynamin 1 ISO protein:decreased expression:hippocampus,entorhinal cortex:
mRNA,protein:decreased expression:hippocampus, temporal cortex
denntate gyrus, hippocampus, entorhinal cortex		 RGD PMID:20847448 RGD:13506238 NCBI chr 9:55,252,802...55,298,244
Ensembl chr 9:55,252,347...55,298,244 		JBrowse link
G DNM1L dynamin 1 like ISO protein:decreased expression:hippocampus (human) RGD PMID:19605646 RGD:7800727 NCBI chr27:16,161,855...16,211,983
Ensembl chr27:16,163,357...16,211,957 		JBrowse link
G DPYSL2 dihydropyrimidinase like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19374891 NCBI chr25:30,900,347...31,038,256
Ensembl chr25:30,903,253...31,038,144 		JBrowse link
G DRD1 dopamine receptor D1 ISO protein:decreased expression:frontal cortex, neuron RGD PMID:17182012 RGD:5686412 NCBI chr 4:37,550,454...37,554,641
Ensembl chr 4:37,549,708...37,553,287 		JBrowse link
G DRD2 dopamine receptor D2 ISO protein:decreased expression:blood, lymphocyte RGD PMID:11087905 RGD:5686416 NCBI chr 5:19,732,842...19,795,241
Ensembl chr 5:19,732,836...19,795,241 		JBrowse link
G DRD3 dopamine receptor D3 ISO protein:decreased expression:frontal cortex, neuron RGD PMID:17182012 RGD:5686412 NCBI chr33:18,369,362...18,414,465
Ensembl chr33:18,372,865...18,412,277 		JBrowse link
G DRD4 dopamine receptor D4 ISO protein:decreased expression:frontal cortex, neuron RGD PMID:17182012 RGD:5686412
G DRD5 dopamine receptor D5 ISO protein:increased expression:frontal cortex, neuron RGD PMID:17182012 RGD:5686412 NCBI chr 3:69,621,187...69,623,522
Ensembl chr 3:69,621,734...69,623,893 		JBrowse link
G DYNC1H1 dynein cytoplasmic 1 heavy chain 1 ISO protein:increased expression:brain RGD PMID:9402150 RGD:13207349 NCBI chr 8:69,997,021...70,064,886
Ensembl chr 8:69,997,145...70,064,825 		JBrowse link
G ECE1 endothelin converting enzyme 1 ISO RGD PMID:15340356 RGD:1580902 NCBI chr 2:77,732,645...77,793,950
Ensembl chr 2:77,678,686...77,792,114 		JBrowse link
G EEF2 eukaryotic translation elongation factor 2 ISO protein:hyperphosphorylation:brain: RGD PMID:1331687 RGD:10401652 NCBI chr20:55,577,413...55,586,422
Ensembl chr20:55,522,213...55,586,126 		JBrowse link
G EEF2K eukaryotic elongation factor 2 kinase ISO RGD PMID:16098202 RGD:10401651 NCBI chr 6:23,368,296...23,433,853
Ensembl chr 6:23,371,546...23,433,929 		JBrowse link
G EGF epidermal growth factor ISO protein:decreased expression:platelet RGD PMID:21875409 RGD:10059680 NCBI chr32:30,073,541...30,166,904
Ensembl chr32:30,073,950...30,166,295 		JBrowse link
G EGFR epidermal growth factor receptor treatment ISO RGD PMID:23019586 RGD:10059684 NCBI chr18:5,983,669...6,044,092
Ensembl chr18:5,982,770...6,042,631 		JBrowse link
G EGR1 early growth response 1 treatment ISO protein:increased expression:temporal cortex, hippocampus (human) RGD PMID:21489990 PMID:21969301 PMID:23642031 RGD:10395277 RGD:10395279 RGD:5131647 NCBI chr11:26,046,195...26,049,806
Ensembl chr11:26,046,228...26,048,575 		JBrowse link
G EIF2AK2 eukaryotic translation initiation factor 2 alpha kinase 2 ISO protein:increased threonine phosphorylation:hippocampus RGD PMID:15567511 PMID:24315369 RGD:10395344 RGD:10395348 NCBI chr17:29,494,641...29,537,933
Ensembl chr17:29,496,128...29,537,933 		JBrowse link
G EIF2S1 eukaryotic translation initiation factor 2 subunit alpha severity ISO protein:increased phosphorylation:hippocampus
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:16691116 PMID:16954686 PMID:17406652 PMID:24315369 RGD:10395316 RGD:10395343 RGD:10395344 NCBI chr 8:41,354,400...41,371,676
Ensembl chr 8:41,351,244...41,371,056 		JBrowse link
G ELK1 ETS transcription factor ELK1 ISO RGD PMID:20126313 RGD:7488914 NCBI chr  X:41,256,205...41,270,656
Ensembl chr  X:41,257,482...41,270,776 		JBrowse link
G ENO1 enolase 1 ISO CTD Direct Evidence: marker/mechanism
protein:increased S-glutathionylation, decreased activity:inferior parietal cortex		 CTD
RGD		 PMID:17387692 PMID:19374891 RGD:13792613 NCBI chr 5:62,300,805...62,314,508
Ensembl chr 5:62,300,808...62,304,093 		JBrowse link
G EP300 E1A binding protein p300 ISO mRNA:increased expression:temporal cortex (human) RGD PMID:23585551 RGD:7327146 NCBI chr10:24,076,538...24,156,708
Ensembl chr10:24,077,971...24,156,396 		JBrowse link
G EPHA1 EPH receptor A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21460840 PMID:21460841 NCBI chr16:6,287,757...6,304,082
Ensembl chr16:6,287,910...6,304,090 		JBrowse link
G EPHA4 EPH receptor A4 ISO protein:decreased expression:hippocampus RGD PMID:19542617 RGD:6218956 NCBI chr37:27,670,143...27,809,642
Ensembl chr37:27,677,566...27,809,646 		JBrowse link
G EPHB2 EPH receptor B2 ameliorates ISO RGD PMID:21113149 RGD:12859080 NCBI chr 2:76,427,112...76,551,494
Ensembl chr 2:76,428,203...76,612,786 		JBrowse link
G EPHX1 epoxide hydrolase 1 ISO protein:increased expression:hippocampus RGD PMID:16630050 RGD:5688388 NCBI chr 7:38,964,319...39,004,902
Ensembl chr 7:38,964,338...38,999,238 		JBrowse link
G EPO erythropoietin treatment ISO RGD PMID:22004348 PMID:23813967 RGD:10395389 RGD:10400882 NCBI chr 6:8,994,211...8,995,954
Ensembl chr 6:8,994,211...8,996,144 		JBrowse link
G EPOR erythropoietin receptor ISO protein:increased expression:brain, astrocyte RGD PMID:17483696 RGD:10395387 NCBI chr20:49,945,777...49,950,856
Ensembl chr20:49,945,777...49,950,856 		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 1:110,173,781...110,191,612
Ensembl chr 1:110,173,715...110,190,125 		JBrowse link
G ERCC3 ERCC excision repair 3, TFIIH core complex helicase subunit ISO protein:increased expression:brain RGD PMID:9714461 RGD:5688738 NCBI chr19:23,310,911...23,344,083
Ensembl chr19:23,310,986...23,337,683 		JBrowse link
G ESR1 estrogen receptor 1 ISO CTD Direct Evidence: marker/mechanism RGD
CTD		 PMID:10558867 PMID:17192785 RGD:1358612 NCBI chr 1:42,081,952...42,368,544
Ensembl chr 1:42,081,969...42,368,544 		JBrowse link
G ESR2 estrogen receptor 2 susceptibility ISO mRNA:increased expression:cerebral cortex
DNA:SNPs:3' utr: (rs4986938), (rs1255953) (human)
protein:decreased expression:choroid plexus
DNA:snps:introns:IVS3-1880C>T, IVS4+1231C>T (rs1271573, rs1256043) (human)		 RGD PMID:15082146 PMID:15916731 PMID:15944651 PMID:17132983 RGD:5508768 RGD:5508772 RGD:5508784 RGD:8693346 NCBI chr 8:38,645,917...38,715,347
Ensembl chr 8:38,645,430...38,702,691 		JBrowse link
G F2 coagulation factor II, thrombin ISO CTD Direct Evidence: marker/mechanism CTD PMID:8333868 NCBI chr18:42,782,744...42,799,531
Ensembl chr18:42,782,751...42,799,459 		JBrowse link
G FABP3 fatty acid binding protein 3 ISO protein:decreased expression:cerebral cortex (human) RGD PMID:15068254 RGD:1578460 NCBI chr 2:69,651,140...69,659,082
Ensembl chr 2:69,650,322...69,658,443 		JBrowse link
G FADD Fas associated via death domain ISO RGD PMID:16085017 RGD:13782385 NCBI chr18:48,087,447...48,094,497 JBrowse link
G FAS Fas cell surface death receptor ISO protein:increased expression:brain, plaque (human)
DNA:snp:promoter:g.-670G>A (human)		 RGD PMID:11129341 PMID:12742739 RGD:1358615 RGD:8663481 NCBI chr26:38,738,811...38,763,298
Ensembl chr26:38,737,611...38,763,321 		JBrowse link
G FGF1 fibroblast growth factor 1 ISO RGD PMID:20079650 RGD:5509878 NCBI chr 2:37,467,431...37,554,770
Ensembl chr 2:37,470,985...37,554,619 		JBrowse link
G FGFR1 fibroblast growth factor receptor 1 ISO RGD PMID:9748519 RGD:10402073 NCBI chr16:27,029,902...27,080,514
Ensembl chr16:27,031,588...27,078,261 		JBrowse link
G FIS1 fission, mitochondrial 1 ISO protein:increased expression:hippocampus (human) RGD PMID:19605646 RGD:7800727 NCBI chr 6:8,642,014...8,645,812
Ensembl chr 6:8,642,039...8,648,851 		JBrowse link
G FOXO3 forkhead box O3 ISO mRNA:increased expression:brain:
protein:increased expression:hippocampal neuron (mouse)
protein:increased expression:lymphoblast,nucleus:
protein:altered expression:cortical neuron,nucleus:		 RGD PMID:23153928 PMID:23585551 PMID:23661003 PMID:28157684 RGD:10402185 RGD:10402187 RGD:11061905 RGD:7327146 NCBI chr12:65,552,455...65,673,467
Ensembl chr12:65,552,310...65,670,198 		JBrowse link
G FXYD6 FXYD domain containing ion transport regulator 6 ISO RGD PMID:19760337 RGD:13801191 NCBI chr 5:15,801,790...15,807,601
Ensembl chr 5:15,771,390...15,807,601 		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 chr12:68,105,060...68,316,630
Ensembl chr12:68,075,184...68,316,541 		JBrowse link
G GABPA GA binding protein transcription factor subunit alpha ISO ClinVar Annotator: match by term: Alzheimer disease ClinVar PMID:16369530 PMID:16921174 PMID:22491860 PMID:24691562 PMID:25741868 More... NCBI chr31:21,216,931...21,251,658
Ensembl chr31:21,216,710...21,248,792 		JBrowse link
G GAPDH glyceraldehyde-3-phosphate dehydrogenase susceptibility
onset		 ISO protein:increased S-glutathionylation, decreased activity:inferior parietal cortex
DNA:SNPs, haplotypes: :rs740850, rs1060620 (human)
DNA:SNP:5' utr:rs3741916 (human)
DNA:snps:5' utr, intron: (rs3741916, rs1060621) (human)		 RGD PMID:15507493 PMID:17387692 PMID:18340469 PMID:20864222 PMID:28087189 RGD:1358618 RGD:13792604 RGD:13792611 RGD:13792612 RGD:13792613 NCBI chr27:38,468,889...38,472,653
Ensembl chr27:38,468,889...38,472,385 		JBrowse link
G GAPDHS glyceraldehyde-3-phosphate dehydrogenase, spermatogenic onset ISO CTD Direct Evidence: marker/mechanism
DNA:snps:promoter, intron: (rs4806173, rs12984928) (human)		 CTD
RGD		 PMID:15507493 PMID:17192785 RGD:1358618 NCBI chr 1:117,121,290...117,129,159
Ensembl chr 1:117,121,293...117,129,164 		JBrowse link
G GCG glucagon ISO RGD PMID:23035082 RGD:10402366 NCBI chr36:7,544,637...7,554,171
Ensembl chr36:7,544,637...7,554,021 		JBrowse link
G GDNF glial cell derived neurotrophic factor ISO mRNA, protein:alternate form, decreased expression:brain RGD PMID:22081608 RGD:5688777 NCBI chr 4:70,966,694...70,991,860
Ensembl chr 4:70,971,432...70,989,714 		JBrowse link
G GHRH growth hormone releasing hormone treatment ISO RGD PMID:23211425 RGD:10401233 NCBI chr24:25,893,224...25,902,095
Ensembl chr24:25,893,225...25,897,712 		JBrowse link
G GLUD1 glutamate dehydrogenase 1 ISO protein:increased expression, decreased oxidation:brain
protein:increased expression:brain		 RGD PMID:16298240 PMID:16341942 RGD:6484555 RGD:6484556 NCBI chr 4:34,629,046...34,662,711 JBrowse link
G GLUL glutamate-ammonia ligase ISO protein:increased oxidation:brain
protein:increased expression:cerebrospinal fluid:significant increase in active protein vs normal patients and controls with other neurological disorders		 RGD PMID:1361232 PMID:12160938 RGD:2301427 RGD:2301429 NCBI chr 7:15,730,898...15,740,241
Ensembl chr 7:15,730,898...15,740,241 		JBrowse link
G GNAS GNAS complex locus ISO RGD PMID:8012802 RGD:10401266 NCBI chr24:43,643,409...43,658,641
Ensembl chr24:43,643,405...43,658,657 		JBrowse link
G GRID2IP Grid2 interacting protein ISO ClinVar Annotator: match by term: Alzheimer disease, early onset ClinVar PMID:25741868 NCBI chr 6:11,834,841...11,860,326
Ensembl chr 6:11,835,961...11,870,109 		JBrowse link
G GRIN1 glutamate ionotropic receptor NMDA type subunit 1 ISO RGD PMID:24156266 RGD:13792688 NCBI chr 9:48,492,967...48,513,981
Ensembl chr 9:48,493,287...48,509,050 		JBrowse link
G GRIN2A glutamate ionotropic receptor NMDA type subunit 2A ISO RGD PMID:24156266 RGD:13792688 NCBI chr 6:32,132,070...32,678,319
Ensembl chr 6:32,303,121...32,668,960 		JBrowse link
G GRIN2B glutamate ionotropic receptor NMDA type subunit 2B no_association ISO DNA:SNPs:promoter:-200T>G (rs1019385), -1447T>C, -1497G>A (rs12368476) (human)
DNA:SNP, haplotype: :rs1806201 (human)
DNA:SNP:promoter:-421C>A (rs3764028) (human)
DNA:SNPs:promoter, exon, 3' utr:-200T>G (rs1019385), 2664C>T (rs1806201), 5072G>T (rs890) (human)
DNA:SNP: :2664C>T (rs1806201) (human)		 RGD PMID:18303265 PMID:18983893 PMID:24156266 PMID:24292895 RGD:13792688 RGD:13792709 RGD:13792713 RGD:13792714 NCBI chr27:32,470,889...32,883,606
Ensembl chr27:32,471,153...32,877,680 		JBrowse link
G GRK5 G protein-coupled receptor kinase 5 ISO DNA: deletion: exons 7,8: heterozygote RGD PMID:18522748 RGD:5688375 NCBI chr28:29,424,350...29,636,552
Ensembl chr28:29,424,593...29,632,741 		JBrowse link
G GRN granulin precursor severity
onset		 ISO mRNA, protein:increased expression:microglia, neuron:
ClinVar Annotator: match by term: Alzheimer disease
DNA:deletion:exon:c.154delA(human)		 RGD
ClinVar		 PMID:16199547 PMID:16862116 PMID:16950801 PMID:19557827 PMID:20142525 More... RGD:5509601 RGD:5509606 NCBI chr 9:19,077,430...19,085,443
Ensembl chr 9:19,077,427...19,082,268 		JBrowse link
G GSK3A glycogen synthase kinase 3 alpha treatment ISO RGD PMID:18410522 PMID:22623685 RGD:10401797 RGD:10401801 NCBI chr 1:112,129,116...112,138,714
Ensembl chr 1:112,103,825...112,138,559 		JBrowse link
G GSK3B glycogen synthase kinase 3 beta treatment ISO DNA:altered methylation:CpG island:
DNA:SNP:promoter:rs334558 (human)
protein:decreased phosphorylation:hippocampus:
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:11226152 PMID:17409235 PMID:19154537 PMID:22048123 PMID:22623685 More... RGD:10045668 RGD:10045669 RGD:10045670 RGD:10401801 RGD:1302533 RGD:13782364 RGD:13792736 RGD:13792777 NCBI chr33:23,458,369...23,659,878
Ensembl chr33:23,463,767...23,659,666 		JBrowse link
G GSR glutathione-disulfide reductase treatment ISO mRNA:increased expression:hippocampus
protein:decreased expression:blood		 RGD PMID:10096042 PMID:17721818 PMID:19374888 PMID:21376020 RGD:10401827 RGD:10401847 RGD:10401849 RGD:10401857 NCBI chr16:33,633,949...33,680,411
Ensembl chr16:33,633,968...33,679,752 		JBrowse link
G GSS glutathione synthetase ISO RGD PMID:15693022 RGD:5508441 NCBI chr24:23,973,807...24,000,281
Ensembl chr24:23,901,045...23,997,286 		JBrowse link
G GSTM3 glutathione S-transferase mu 3 ISO DNA:SNP:cds: rs7483 (human) RGD PMID:15621212 PMID:18423940 RGD:5688729 RGD:5688745 NCBI chr 6:42,187,869...42,191,274
Ensembl chr 6:42,187,967...42,191,273 		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:15917099 PMID:20818931 RGD:1358651 RGD:5490514 RGD:5490521 NCBI chr28:16,569,421...16,579,239
Ensembl chr28:16,569,066...16,619,880 		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 chr28:16,580,250...16,604,977
Ensembl chr28:16,586,777...16,604,976 		JBrowse link
G GSTP1 glutathione S-transferase pi 1 onset
susceptibility		 ISO DNA:polymorphism:exon:
DNA:polymorphisms
mRNA:decreased expression:cerebral cortex		 RGD PMID:15805147 PMID:17911365 PMID:23211594 PMID:24584466 RGD:10401912 RGD:10401913 RGD:5490123 RGD:5490271 NCBI chr18:49,905,161...49,908,182
Ensembl chr18:49,905,161...49,908,182 		JBrowse link
G GUCY1B1 guanylate cyclase 1 soluble subunit beta 1 ISO RGD PMID:15571982 RGD:10401946 NCBI chr15:53,266,243...53,312,109
Ensembl chr15:53,265,350...53,312,111 		JBrowse link
G HADHA hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha ISO protein:decreased expression:brain RGD PMID:25260493 RGD:10047114 NCBI chr17:20,307,207...20,355,659
Ensembl chr17:20,307,226...20,355,508 		JBrowse link
G HADHB hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta ISO protein:decreased_expression:vascular smooth muscle cells:little or no expression in VSMCs in arteries with amyloid deposits RGD PMID:11430884 RGD:1600786 NCBI chr17:20,355,778...20,399,869 JBrowse link
G HDAC2 histone deacetylase 2 ISO protein:increased expression:hippocampus: RGD PMID:22388814 RGD:9590324 NCBI chr12:70,053,822...70,083,491
Ensembl chr12:70,053,297...70,103,578 		JBrowse link
G HFE homeostatic iron regulator ISO ClinVar Annotator: match by term: Alzheimer disease | ClinVar Annotator: match by term: Alzheimer's disease ClinVar PMID:8696333 PMID:8896550 PMID:9162021 PMID:9356458 PMID:9462220 More... NCBI chr35:24,031,479...24,038,922
Ensembl chr35:24,031,387...24,042,413 		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 8:36,614,045...36,656,692
Ensembl chr 8:36,614,045...36,656,692 		JBrowse link
G HLA-DRB1 MHC class II DLA DRB1 beta chain ISO RGD PMID:21473952 RGD:5147563 NCBI chr12:2,151,409...2,164,564 JBrowse link
G HMGB1 high mobility group box 1 ISO RGD PMID:23905994 RGD:10402058 NCBI chr25:9,431,223...9,558,167
Ensembl chr25:9,431,218...9,558,165 		JBrowse link
G HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase ISO RGD PMID:17724290 RGD:5508460 NCBI chr 3:30,970,037...30,988,987
Ensembl chr 3:30,970,037...30,990,294 		JBrowse link
G HMOX1 heme oxygenase 1 ISO protein:increased expression:hippocampus, temporal cortex (human)
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:7778849 PMID:11144356 RGD:1358658 NCBI chr10:28,744,404...28,751,544
Ensembl chr10:28,743,795...28,751,773 		JBrowse link
G HNRNPA1 heterogeneous nuclear ribonucleoprotein A1 ISO protein:decreased expression:entorhinal cortex (human) RGD PMID:22628224 RGD:9999191 NCBI chr27:1,013,459...1,020,083
Ensembl chr27:1,015,868...1,019,891 		JBrowse link
G HNRNPA2B1 heterogeneous nuclear ribonucleoprotein A2/B1 ISO protein:decreased expression:entorhinal cortex (human) RGD PMID:22628224 RGD:9999191 NCBI chr14:39,498,805...39,509,034
Ensembl chr14:39,500,897...39,508,952 		JBrowse link
G HRAS HRas proto-oncogene, GTPase ISO protein:increased expression:brain, neuron (human) RGD PMID:10661494 RGD:10412306 NCBI chr18:25,642,844...25,644,717
Ensembl chr18:25,642,844...25,644,717 		JBrowse link
G HSD17B10 hydroxysteroid 17-beta dehydrogenase 10 treatment ISO protein:increased expression:hippocampus, neuron, mitochondria
protein:increased expression:brain (human)		 RGD PMID:9338779 PMID:11869808 PMID:21307267 RGD:1358426 RGD:13792781 RGD:632866 NCBI chr  X:45,165,272...45,167,683
Ensembl chr  X:45,165,272...45,167,574 		JBrowse link
G HSD17B3 hydroxysteroid 17-beta dehydrogenase 3 ISO mRNA:altered expression:cerebellum, hippocampus (human) RGD PMID:18180323 RGD:4889108 NCBI chr 1:70,551,013...70,586,364
Ensembl chr 1:70,487,334...70,586,368 		JBrowse link
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 chr17:56,552,945...56,561,062
Ensembl chr17:56,552,945...56,561,062 		JBrowse link
G HSF1 heat shock transcription factor 1 ISO protein:altered localization:promoter (mouse)
protein:decreased expression:cerebellum (rat)		 RGD PMID:23665061 PMID:24849358 RGD:10402385 RGD:10402771 NCBI chr13:37,724,741...37,745,259
Ensembl chr13:37,724,759...37,745,252 		JBrowse link
G HSP70 heat shock protein 70 disease_progression ISO DNA:polymorphism: : RGD PMID:12967056 RGD:10402401 NCBI chr12:1,285,282...1,287,670 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 8:70,091,203...70,096,107
Ensembl chr 8:70,092,217...70,095,243 		JBrowse link
G HSPA13 heat shock protein family A (Hsp70) member 13 ISO ClinVar Annotator: match by term: Alzheimer disease ClinVar PMID:16369530 PMID:16921174 PMID:24691562 NCBI chr31:11,365,374...11,377,896
Ensembl chr31:11,367,788...11,377,828 		JBrowse link
G HSPA9 heat shock protein family A (Hsp70) member 9 ISO RGD PMID:17050040 RGD:10402560 NCBI chr11:26,122,917...26,142,458
Ensembl chr11:26,121,499...26,142,434 		JBrowse link
G HSPB1 heat shock protein family B (small) member 1 ISO mRNA,protein:increased expression:brainstem, astrocyte: RGD PMID:25772164 RGD:10402580 NCBI chr 6:7,487,164...7,488,576
Ensembl chr 6:7,487,250...7,488,576 		JBrowse link
G HSPD1 heat shock protein family D (Hsp60) member 1 ISO protein:increased expression:cytosol, mitochondrion:
protein:increased modification:brain
protein:increased expression:mitochondrion:		 RGD PMID:15802185 PMID:22753410 RGD:10402831 RGD:1624243 NCBI chr37:7,010,421...7,025,912 JBrowse link
G HTR1A 5-hydroxytryptamine receptor 1A ISO RGD PMID:20508993 RGD:5683632 NCBI chr 2:50,005,277...50,006,548
Ensembl chr 2:50,002,740...50,006,548 		JBrowse link
G HTR2A 5-hydroxytryptamine receptor 2A treatment ISO RGD PMID:26889223 RGD:401901085 NCBI chr22:4,453,715...4,510,934
Ensembl chr22:4,453,715...4,511,037 		JBrowse link
G HTR6 5-hydroxytryptamine receptor 6 susceptibility ISO DNA:silent mutation:cds: 267C>T (human) RGD PMID:10624811 RGD:1358662 NCBI chr 2:79,022,790...79,033,975
Ensembl chr 2:79,022,775...79,033,975 		JBrowse link
G HTRA2 HtrA serine peptidase 2 ISO protein:increased activity:frontal cortex (human) RGD PMID:21163861 RGD:5688722 NCBI chr17:48,610,408...48,613,399
Ensembl chr17:48,610,408...48,613,399 		JBrowse link
G ICAM1 intercellular adhesion molecule 1 ISO DNA:missense mutation:cds:p.K469E (human) RGD PMID:12498973 RGD:1358664 NCBI chr20:50,818,715...50,827,914
Ensembl chr20:50,818,715...50,827,914 		JBrowse link
G IDE insulin degrading enzyme treatment ISO associated with Insulin Resistance
CTD Direct Evidence: marker/mechanism
protein:decreased expression:cerebrospinal fluid		 RGD
CTD		 PMID:12634421 PMID:17192785 PMID:26963025 PMID:28157092 PMID:28164769 More... RGD:13792790 RGD:13792792 RGD:13792793 RGD:13792798 RGD:13792800 RGD:13792824 RGD:13792829 RGD:737718 NCBI chr28:6,844,480...6,967,713
Ensembl chr28:6,844,055...6,967,713 		JBrowse link
G IGF1 insulin like growth factor 1 treatment
susceptibility
onset		 ISO protein:altered expression:plasma,cerebral spinal fluid:
DNA:polymorphism:intron: rs972936(human)
protein:increased expression:serum:
CTD Direct Evidence: marker/mechanism
protein:decreased expression:hippocampus:		 RGD
CTD		 PMID:10399774 PMID:15750215 PMID:23089282 PMID:23740209 PMID:24054991 More... RGD:10045852 RGD:10045853 RGD:10045854 RGD:10045860 RGD:10402576 NCBI chr15:41,203,320...41,275,964
Ensembl chr15:41,202,518...41,275,794 		JBrowse link
G IGF1R insulin like growth factor 1 receptor severity
treatment		 ISO DNA: haploinsufficiency:: full knockout dies at birth
protein:increased expression: cerebral cortex:
CTD Direct Evidence: marker/mechanism
protein:increased expression:temporal cortex:		 RGD
CTD		 PMID:15750215 PMID:16274856 PMID:18479783 PMID:19487308 PMID:20409077 More... RGD:10045878 RGD:10045879 RGD:10045894 RGD:12904921 RGD:5686420 NCBI chr 3:41,795,337...42,096,255
Ensembl chr 3:41,794,623...42,090,387 		JBrowse link
G IGF2 insulin like growth factor 2 treatment ISO mRNA:decreased expression:brain
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:15750215 PMID:16627931 PMID:21040071 PMID:24685003 PMID:24887203 RGD:10045934 RGD:10402558 RGD:10402559 RGD:5509963 NCBI chr18:46,294,036...46,311,982
Ensembl chr18:46,294,019...46,311,982 		JBrowse link
G IGF2R insulin like growth factor 2 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:15750215 NCBI chr 1:49,161,551...49,262,260
Ensembl chr 1:49,161,444...49,262,277 		JBrowse link
G IGFBP2 insulin like growth factor binding protein 2 ISO protein:decreased expression:temporal cortex: RGD PMID:18479783 RGD:10045894 NCBI chr37:23,553,227...23,569,321
Ensembl chr37:23,559,501...23,569,312 		JBrowse link
G IGFBP3 insulin like growth factor binding protein 3 treatment ISO mRNA:decreased expression:hippocampus
protein:increased expression:serum		 RGD PMID:10399774 PMID:23473966 PMID:24964199 RGD:10402570 RGD:10402572 RGD:10402576 NCBI chr16:1,021,855...1,027,604
Ensembl chr16:1,021,972...1,026,392 		JBrowse link
G IKBKB inhibitor of nuclear factor kappa B kinase subunit beta treatment ISO protein:increased expression:hippocampus: RGD PMID:24380241 RGD:10045941 NCBI chr16:23,359,551...23,419,114
Ensembl chr16:23,359,813...23,419,075 		JBrowse link
G IL10 interleukin 10 treatment
susceptibility		 ISO DNA:SNPs,haplotype: -1082G>A, -819T>C, -592C>A (human) RGD PMID:14746878 PMID:21803105 RGD:1358665 RGD:7364841 NCBI chr 7:5,933,285...5,937,057
Ensembl chr 7:5,933,285...5,937,057 		JBrowse link
G IL1A interleukin 1 alpha no_association
disease_progression
susceptibility		 ISO DNA:SNP:5'UTR:rs1800587(human)
protein:increased expression:microglial cell, cortical layer:		 RGD PMID:9775393 PMID:10716257 PMID:11402127 PMID:19158434 RGD:10045945 RGD:10045947 RGD:10046059 RGD:1358667 NCBI chr17:36,969,581...36,979,445
Ensembl chr17:36,970,573...36,979,435 		JBrowse link
G IL1B interleukin 1 beta treatment
no_association
onset		 ISO DNA:SNP:promoter:-31T>C (human)
DNA:SNP: :rs1143634 (human)
CTD Direct Evidence: marker/mechanism
protein:increased expression:plasma		 RGD
CTD		 PMID:16600299 PMID:18675847 PMID:18830724 PMID:20413850 PMID:22963993 More... RGD:11522340 RGD:13792816 RGD:13792817 RGD:13792818 RGD:13792819 RGD:13792820 RGD:13793381 RGD:1626633 RGD:7204700 NCBI chr17:37,019,329...37,033,388
Ensembl chr17:37,019,329...37,024,458 		JBrowse link
G IL2 interleukin 2 severity ISO protein:increased secretion:mononuclear cell: RGD PMID:8586980 PMID:8915041 RGD:10047080 RGD:10047081 NCBI chr19:17,750,780...17,756,394
Ensembl chr19:17,750,780...17,756,394 		JBrowse link
G IL3 interleukin 3 ISO protein:decreased expression:plasma RGD PMID:17934472 PMID:18769539 RGD:5686815 RGD:5686817 NCBI chr11:20,330,480...20,332,668
Ensembl chr11:20,330,480...20,332,668 		JBrowse link
G IL33 interleukin 33 ISO OMIM:608907 MouseDO NCBI chr11:27,219,878...27,256,723
Ensembl chr11:27,219,878...27,256,721 		JBrowse link
G IL4 interleukin 4 ISO DNA:polymorphisms:promoter RGD PMID:20213229 RGD:10402788 NCBI chr11:20,972,693...20,981,539
Ensembl chr11:20,972,690...20,981,534 		JBrowse link
G IL6 interleukin 6 treatment ISO RGD PMID:27088818 RGD:11062148 NCBI chr14:36,474,268...36,478,519
Ensembl chr14:36,473,394...36,478,519 		JBrowse link
G IL6R interleukin 6 receptor no_association ISO DNA:SNPs:promoter, exon:-530G>T, 48867A/>C (p.D358A, rs8192284) (human)
protein:increased expression:cerebrospinal fluid, plasma
DNA:SNPs:promoter:-208G>A (rs4845617) (human)		 RGD PMID:12664314 PMID:20197062 RGD:10402808 RGD:10402810 NCBI chr 7:42,877,731...42,920,149
Ensembl chr 7:42,880,885...42,920,090 		JBrowse link
G IL6ST interleukin 6 cytokine family signal transducer ISO protein:decreased expression:cerebrospinal fluid RGD PMID:10095017 RGD:10402847 NCBI chr 2:43,214,050...43,273,014
Ensembl chr 2:43,214,050...43,248,124 		JBrowse link
G IL7 interleukin 7 ISO RGD PMID:22571981 RGD:10402933 NCBI chr29:26,384,493...26,422,586
Ensembl chr29:26,384,493...26,422,737 		JBrowse link
G INPP5D inositol polyphosphate-5-phosphatase D ISO CTD Direct Evidence: marker/mechanism CTD PMID:30320580 NCBI chr25:44,612,146...44,731,347
Ensembl chr25:44,611,523...44,730,200 		JBrowse link
G INS insulin ISO CTD Direct Evidence: marker/mechanism
mRNA:decreased expression:cerebral cortex		 CTD
RGD		 PMID:9443474 PMID:15750215 PMID:17448147 RGD:2298713 NCBI chr18:46,324,047...46,324,933
Ensembl chr18:46,324,041...46,325,122 		JBrowse link
G INSR insulin receptor treatment ISO mRNA:decreased expression:brain
protein:altered localization:brain, neuron
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:16627931 PMID:18479783 PMID:23011726 PMID:24055495 RGD:10045894 RGD:10403036 RGD:5509963 NCBI chr20:52,017,261...52,136,061
Ensembl chr20:52,021,887...52,136,046 		JBrowse link
G IQCK IQ motif containing K ISO CTD Direct Evidence: marker/mechanism CTD PMID:30820047 NCBI chr 6:25,435,813...25,564,663
Ensembl chr 6:25,436,642...25,564,607 		JBrowse link
G IREB2 iron responsive element binding protein 2 ISO DNA:SNPs: :rs2656070, rs13180(human) RGD PMID:16914832 RGD:6893299 NCBI chr13:38,398,445...38,441,128
Ensembl chr13:38,400,591...38,441,015 		JBrowse link
G IRS1 insulin receptor substrate 1 severity
treatment		 ISO protein:increased expression, increased serine phosphorylation, increased tyrosine phosphorylation:hippocampus CA1
protein:altered expression:temporal cortex:
protein:increased serine phosphorylation:hippocampus
protein:decreased expression:hippocampus:
DNA:SNP:cds:rs1801278(human)		 RGD PMID:18479783 PMID:22476196 PMID:22476197 PMID:22527777 PMID:23011726 More... RGD:10045894 RGD:10045932 RGD:10045935 RGD:10045939 RGD:10403036 RGD:6482860 RGD:6482861 NCBI chr25:39,624,554...39,687,991 JBrowse link
G IRS2 insulin receptor substrate 2 severity ISO protein:decreased expression:temporal cortex:
mRNA:decreased expression:hippocampus:		 RGD PMID:18479783 PMID:19487308 PMID:24887203 RGD:10045878 RGD:10045894 RGD:10045934 NCBI chr22:58,197,016...58,229,026
Ensembl chr22:58,223,387...58,227,535 		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 chr20:12,746,171...13,065,256
Ensembl chr20:12,747,315...13,064,198 		JBrowse link
G JAK2 Janus kinase 2 treatment ISO RGD PMID:18813209 RGD:10403051 NCBI chr 1:93,321,055...93,438,898
Ensembl chr 1:93,142,635...93,435,997 		JBrowse link
G JAM2 junctional adhesion molecule 2 ISO ClinVar Annotator: match by term: Alzheimer disease ClinVar PMID:16369530 PMID:16921174 PMID:24691562 PMID:25741868 NCBI chr31:21,137,378...21,198,278
Ensembl chr31:21,137,363...21,197,668 		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 chr21:40,273,366...40,315,189
Ensembl chr21:40,273,827...40,315,189 		JBrowse link
G KCNC4 potassium voltage-gated channel subfamily C member 4 ISO mRNA, protein:increased expression: frontal cortex
mRNA:decreased expression:neocortex (mouse)		 RGD PMID:15485486 PMID:21912965 RGD:10411900 RGD:9686062 NCBI chr 6:41,743,214...41,764,572
Ensembl chr 6:41,738,653...41,764,578 		JBrowse link
G KCNMA1 potassium calcium-activated channel subfamily M alpha 1 onset ISO DNA:SNP: :rs16934131 (human) RGD PMID:21480501 RGD:10412025 NCBI chr 4:26,844,250...27,338,271
Ensembl chr 4:26,844,250...27,555,776 		JBrowse link
G KL klotho treatment ISO mRNA,protein:decreased expression:cerebral choroid,serum: RGD PMID:23973442 RGD:10403049 NCBI chr25:7,154,359...7,201,744
Ensembl chr25:7,156,620...7,199,558 		JBrowse link
G KLC1 kinesin light chain 1 susceptibility ISO DNA:SNPs: :rs8007903, rs3212079 (human)
DNA:SNP:intron:56836G>C (human)		 RGD PMID:15364413 PMID:19911314 RGD:5683908 RGD:5684007 NCBI chr 8:71,401,795...71,444,056
Ensembl chr 8:71,400,003...71,444,062 		JBrowse link
G KLK6 kallikrein related peptidase 6 ISO RGD PMID:12074831 PMID:12480753 RGD:1358599 RGD:1358604 NCBI chr 1:105,902,147...105,907,585 JBrowse link
G KLRG1 killer cell lectin like receptor G1 ISO ClinVar Annotator: match by term: ALPHA-2-MACROGLOBULIN POLYMORPHISM ClinVar PMID:1370808 PMID:1717945 PMID:9697696 PMID:9811940 PMID:15023809 More... NCBI chr27:36,741,379...36,781,049
Ensembl chr27:36,741,767...36,766,637 		JBrowse link
G L1CAM L1 cell adhesion molecule ISO protein:increased expression:cerebrospinal fluid (human) RGD PMID:16298234 RGD:6483456 NCBI chr  X:121,708,695...121,722,819
Ensembl chr  X:121,708,894...121,733,365 		JBrowse link
G LDLR low density lipoprotein receptor no_association ISO DNA:SNPs: :rs5925, rs2738444, rs11669576 (human)
DNA:SNPs:exon (human)
DNA:SNPs:exon:rs5925, rs5927, rs5930 (human)
DNA:SNPs:exon:rs5925, rs5930, rs11669576 (human)		 RGD PMID:15585340 PMID:15689450 PMID:16378661 PMID:16741934 PMID:17239995 More... RGD:5490231 RGD:5490239 RGD:5490241 RGD:5490242 RGD:5490243 RGD:5490244 NCBI chr20:50,115,175...50,152,443
Ensembl chr20:50,048,736...50,152,355 		JBrowse link
G LEP leptin treatment ISO CTD Direct Evidence: therapeutic
associated with Obesity
compared to cortisol;protein:altered expression:plasma (human)		 CTD
RGD		 PMID:9755363 PMID:20157255 PMID:25296496 RGD:10053617 RGD:10053632 NCBI chr14:8,115,396...8,130,946
Ensembl chr14:8,116,122...8,131,395 		JBrowse link
G LIPC lipase C, hepatic type no_association ISO DNA:SNPs: :rs6074, rs6083, rs6084 (human)
DNA:SNPs: :rs6084 (human)		 RGD PMID:17175070 RGD:1600644 NCBI chr30:23,432,460...23,584,037
Ensembl chr30:23,432,493...23,584,037 		JBrowse link
G LIPI lipase I ISO ClinVar Annotator: match by term: Alzheimer disease ClinVar PMID:16369530 PMID:16921174 PMID:24691562 NCBI chr31:11,139,134...11,196,383
Ensembl chr31:11,139,110...11,230,181 		JBrowse link
G LOC100686073 metallothionein-1 ISO RGD PMID:22766972 RGD:10412319 NCBI chr 2:59,603,021...59,604,173
Ensembl chr 2:59,603,014...59,604,132 		JBrowse link
G LOC100686511 myeloid cell surface antigen CD33 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21460840 PMID:21460841 NCBI chr 1:105,722,187...105,731,616 JBrowse link
G LOC100688969 glyceraldehyde-3-phosphate dehydrogenase-like ISO protein:decreased activity:cerebral cortex, hippocampus
protein:decreased activity:cerebral cortex, cerebellum		 RGD PMID:17324518 RGD:13792614 NCBI chr  X:51,925,654...51,926,724 JBrowse link
G LOC102155410 cytochrome c oxidase subunit 7C, mitochondrial ISO RGD PMID:28474567 RGD:13792588 NCBI chr21:20,841,405...20,841,878 JBrowse link
G LOC403934 cell division cycle 42 ISO RGD PMID:10817927 RGD:5688277 NCBI chr 2:77,153,276...77,169,947
Ensembl chr 2:77,153,095...77,199,211 		JBrowse link
G LOC476900 membrane-spanning 4-domains subfamily A member 4A ISO CTD Direct Evidence: marker/mechanism CTD PMID:21460841 NCBI chr21:50,598,991...50,614,428 JBrowse link
G LOC477072 serotransferrin ISO ClinVar Annotator: match by term: Transferrin variant C1/C2 ClinVar PMID:9272172 PMID:15060098 PMID:20029940 PMID:25741868 PMID:28492532 NCBI chr23:30,658,250...30,683,816
Ensembl chr23:30,595,704...30,683,845 		JBrowse link
G LOC487375 elongation factor 1-alpha 1-like ISO protein:increased expression:CA1field of hippocampus: RGD PMID:8750861 RGD:10401216 NCBI chr 2:75,787,450...75,797,662 JBrowse link
G LOC490269 complement receptor type 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19734903 PMID:21460841 NCBI chr 7:6,456,238...6,480,672 JBrowse link
G LOC607874 cystatin-C-like susceptibility ISO protein:decreased expression:serum (human)
protein:increased expression:plasma
CTD Direct Evidence: marker/mechanism|therapeutic		 RGD
CTD		 PMID:15907478 PMID:17192785 PMID:18026100 PMID:18824671 RGD:1358533 RGD:2314333 NCBI chr23:49,562...53,618 JBrowse link
G LOC608881 protocadherin-11 X-linked ISO ClinVar Annotator: match by term: Alzheimer disease ClinVar PMID:29476165 NCBI chr  X:68,639,555...69,007,333 JBrowse link
G LPL lipoprotein lipase no_association
severity		 ISO DNA:point mutations: :p.N291S, p.S447X (human)
DNA:SNPs: :rs268, rs328 (human)
DNA, mRNA:SNP, decreased expression: :rs285 (human)
DNA:polymorphism:intron
DNA:SNPs: :multiple		 RGD PMID:10206232 PMID:12133567 PMID:15331147 PMID:16013913 PMID:16965549 More... RGD:13793392 RGD:13793393 RGD:13793395 RGD:13793396 RGD:13793397 RGD:13799353 RGD:5685661 NCBI chr25:37,078,306...37,102,729
Ensembl chr25:37,079,756...37,102,700 		JBrowse link
G LRP1 LDL receptor related protein 1 treatment ISO DNA:SNP:exon 3:C>T (human)
OMIM:104300 | OMIM:502500 | OMIM:604154 | OMIM:608907		 RGD
MouseDO		 PMID:9635959 PMID:19150622 PMID:29115637 RGD:1358747 RGD:13799352 RGD:13800553 NCBI chr10:1,260,256...1,341,705
Ensembl chr10:1,260,719...1,352,271 		JBrowse link
G LRP1B LDL receptor related protein 1B onset ISO mRNA:increased expression:hippocampus (mouse) RGD PMID:23150673 RGD:151665140 NCBI chr19:42,608,167...44,427,492
Ensembl chr19:42,609,684...44,427,262 		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 5:55,604,878...55,684,666
Ensembl chr 5:55,604,878...55,699,736 		JBrowse link
G LRPAP1 LDL receptor related protein associated protein 1 onset ISO DNA:deletion:intron RGD PMID:11425005 RGD:1358749 NCBI chr 3:60,840,804...60,852,821
Ensembl chr 3:60,840,882...60,901,258 		JBrowse link
G MAOA monoamine oxidase A ISO RGD PMID:1627256 RGD:10046060 NCBI chr  X:37,678,933...37,744,757
Ensembl chr  X:37,677,493...37,744,757 		JBrowse link
G MAOB monoamine oxidase B ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:1627256 PMID:7816197 PMID:21075085 RGD:10046060 NCBI chr  X:37,765,810...37,883,955
Ensembl chr  X:37,765,813...37,883,955 		JBrowse link
G MAP2 microtubule associated protein 2 ISO RGD PMID:22083255 RGD:6483322 NCBI chr37:17,316,899...17,611,360
Ensembl chr37:17,466,678...17,607,803 		JBrowse link
G MAPK1 mitogen-activated protein kinase 1 onset
treatment		 ISO mRNA:increased expression: CA2 field of hippocampus, pyramidal neuron RGD PMID:24334724 PMID:28079060 RGD:13800563 RGD:13800868 NCBI chr26:31,013,607...31,132,998
Ensembl chr26:31,013,607...31,132,998 		JBrowse link
G MAPK10 mitogen-activated protein kinase 10 ISO protein:increased expression:CA1 field of hippocampus: RGD PMID:11208906 RGD:10412676 NCBI chr32:9,584,437...9,889,118
Ensembl chr32:9,575,492...9,884,325 		JBrowse link
G MAPK14 mitogen-activated protein kinase 14 treatment ISO mRNA:increased expression:frontal lobe cortex, hippocampus CA2 (rat) RGD PMID:17784957 PMID:20529587 RGD:10047076 RGD:10047104 NCBI chr12:5,145,647...5,221,558
Ensembl chr12:5,146,037...5,220,603 		JBrowse link
G MAPK3 mitogen-activated protein kinase 3 treatment ISO RGD PMID:28079060 RGD:13800563 NCBI chr 6:18,109,184...18,115,728
Ensembl chr 6:18,109,222...18,114,425 		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 chr28:323,361...410,367
Ensembl chr28:368,513...406,401 		JBrowse link
G MAPK9 mitogen-activated protein kinase 9 ISO protein:increased expression:brain,CA1 field of hippocampus: RGD PMID:11208906 RGD:10412676 NCBI chr11:1,443,528...1,480,501
Ensembl chr11:1,443,547...1,478,119 		JBrowse link
G MAPT microtubule associated protein tau treatment
no_association
onset		 ISO ClinVar Annotator: match by term: Alzheimer disease
DNA:SNPs, haplotypes:promoter:rs242557 (human)
DNA:mutation:cds:p.R406W(human)
DNA:SNP, haplotypes:promoter:rs242557 (human)		 RGD
ClinVar		 PMID:18587238 PMID:19252918 PMID:19308965 PMID:23116876 PMID:27060945 More... RGD:10412701 RGD:10412704 RGD:13800904 RGD:13800908 RGD:8158097 RGD:8158105 NCBI chr 9:9,572,174...9,674,082
Ensembl chr 9:9,570,557...9,674,349 		JBrowse link
G MBL1 mannose binding lectin 1 susceptibility ISO DNA:haplotype:promoter:
protein:decreased expression:cerebrospinal fluid (human)		 RGD PMID:9631454 PMID:23348713 RGD:12910848 RGD:4889155 NCBI chr 4:29,419,886...29,424,377 JBrowse link
G MCM2 minichromosome maintenance complex component 2 ISO RGD PMID:17070803 PMID:19946466 RGD:10412048 RGD:10412050 NCBI chr20:1,682,928...1,702,689
Ensembl chr20:1,682,886...1,702,366 		JBrowse link
G MDM4 MDM4 regulator of p53 disease_progression ISO RGD PMID:23861893 RGD:10047419 NCBI chr38:1,055,978...1,122,348
Ensembl chr38:1,056,109...1,107,166 		JBrowse link
G MFN1 mitofusin 1 ISO protein:decreased expression:hippocampus (human) RGD PMID:19605646 RGD:7800727 NCBI chr34:12,785,799...12,816,881
Ensembl chr34:12,785,856...12,815,994 		JBrowse link
G MFN2 mitofusin 2 ISO protein:decreased expression:hippocampus (human)
protein:increased expression:hippocampus (rat)		 RGD PMID:19605646 PMID:28302704 RGD:12910737 RGD:7800727 NCBI chr 2:84,284,719...84,310,715
Ensembl chr 2:84,284,719...84,308,225 		JBrowse link
G MIR124-3 microRNA mir-124-3 ISO CTD Direct Evidence: therapeutic CTD PMID:28867212 NCBI chr24:46,916,732...46,916,789
Ensembl chr24:46,916,720...46,916,800 		JBrowse link
G MIR125B-2 microRNA mir-125b-2 ISO ClinVar Annotator: match by term: Alzheimer disease ClinVar PMID:16369530 PMID:16921174 PMID:24691562 NCBI chr31:13,304,980...13,305,040
Ensembl chr31:13,304,964...13,305,052 		JBrowse link
G MIR132 microRNA mir-132 ISO RNA:decreased expression:brain RGD PMID:23585551 RGD:7327146 NCBI chr 9:46,153,531...46,153,590
Ensembl chr 9:46,153,511...46,153,611 		JBrowse link
G MIR155 microRNA mir-155 ISO ClinVar Annotator: match by term: Alzheimer disease ClinVar PMID:16369530 PMID:16921174 PMID:24691562 PMID:25741868 NCBI chr31:21,078,768...21,078,828
Ensembl chr31:21,078,758...21,078,833 		JBrowse link
G MIR212 microRNA mir-212 ISO RNA:decreased expression:brain RGD PMID:23585551 RGD:7327146 NCBI chr 9:46,153,913...46,153,974
Ensembl chr 9:46,153,903...46,153,984 		JBrowse link
G MIR375 microRNA mir-375 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25992776 NCBI chr37:25,568,052...25,568,121
Ensembl chr37:25,568,052...25,568,127 		JBrowse link
G MIR505 microRNA mir-505 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25992776 NCBI chr  X:109,866,448...109,866,523
Ensembl chr  X:109,866,448...109,866,523 		JBrowse link
G MIR708 microRNA mir-708 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25992776 NCBI chr21:19,542,577...19,542,645
Ensembl chr21:19,542,577...19,542,645 		JBrowse link
G MIR99A-1 microRNA mir-99a-1 ISO ClinVar Annotator: match by term: Alzheimer disease ClinVar PMID:16369530 PMID:16921174 PMID:24691562 NCBI chr31:13,258,782...13,258,840
Ensembl chr31:13,258,782...13,258,840 		JBrowse link
G MIR99A-2 microRNA mir-99a-2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25992776 NCBI chr 5:12,047,369...12,047,425
Ensembl chr 5:12,047,369...12,047,425 		JBrowse link
G MIRLET7C microRNA let-7c ISO ClinVar Annotator: match by term: Alzheimer disease ClinVar PMID:16369530 PMID:16921174 PMID:24691562 NCBI chr31:13,259,522...13,259,588
Ensembl chr31:13,259,502...13,259,609 		JBrowse link
G MME membrane metalloendopeptidase severity
treatment
onset
no_association		 ISO DNA:SNPs, haplotypes:promoter, introns:-204G>C, IVS17-294C>T, IVS22+36C>A (human)
OMIM:104300 | OMIM:502500 | OMIM:604154 | OMIM:608907
DNA:SNP:3' utr:rs6665 (human)
DNA:SNPs: :multiple
DNA:SNPs:introns:rs1836915, rs6776185, rs6801319 (human)
associated with Endotoxemia
DNA:SNPs, repeats, deletion:promoter:multiple
DNA:SNPs, repeat:multiple:multiple
DNA:SNP: :rs6797911 (human)
DNA:repeats
DNA:SNPs:5' utr, 3' utr:rs3736187, rs989692, rs701109 (human)		 RGD
MouseDO		 PMID:11849775 PMID:12074840 PMID:12527400 PMID:15860464 PMID:17928142 More... RGD:13801009 RGD:13801010 RGD:13801011 RGD:13801012 RGD:13801019 RGD:13801020 RGD:13801021 RGD:13801022 RGD:13801023 RGD:13801024 RGD:13801033 RGD:13801034 RGD:1600813 NCBI chr23:48,966,222...49,059,919
Ensembl chr23:48,971,066...49,059,919 		JBrowse link
G MMP2 matrix metallopeptidase 2 ISO protein:decreased expression:platelet RGD PMID:21875409 RGD:10059680 NCBI chr 2:60,471,092...60,492,991
Ensembl chr 2:60,471,257...60,494,113 		JBrowse link
G MMP9 matrix metallopeptidase 9 ISO protein:increased expression:plasma (human) RGD PMID:17697439 RGD:7207052 NCBI chr24:33,274,260...33,281,116
Ensembl chr24:33,274,268...33,281,293 		JBrowse link
G MPO myeloperoxidase ISO ClinVar Annotator: match by term: Alzheimer disease | ClinVar Annotator: match by term: Alzheimer disease, susceptibility to ClinVar PMID:11087769 PMID:12915675 PMID:15023809 PMID:17304047 PMID:25741868 NCBI chr 9:32,927,483...32,938,007
Ensembl chr 9:32,927,483...32,937,820 		JBrowse link
G MRE11 MRE11 homolog, double strand break repair nuclease ISO protein:decreased expression:cerebral cortex (human) RGD PMID:15337312 RGD:2317734 NCBI chr21:6,448,909...6,528,185
Ensembl chr21:6,449,822...6,527,119 		JBrowse link
G MRPL39 mitochondrial ribosomal protein L39 ISO ClinVar Annotator: match by term: Alzheimer disease ClinVar PMID:16369530 PMID:16921174 PMID:24691562 PMID:25741868 NCBI chr31:21,089,747...21,110,975
Ensembl chr31:21,084,428...21,110,946 		JBrowse link
G MT-III transcription initiation factor TFIID subunit 4 ISO mRNA:increased expression:brain
mRNA:decreased expression:brain		 RGD PMID:1464312 PMID:10595827 PMID:16444595 PMID:19619132 RGD:6480485 RGD:6480534 RGD:6480619 RGD:9685805 NCBI chr 2:59,624,845...59,630,386 JBrowse link
G MT-ND1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 ISO ClinVar Annotator: match by term: Alzheimer disease ClinVar PMID:8104867 PMID:15972314 NCBI chr MT:2,747...3,702
Ensembl chr MT:2,747...3,703 		JBrowse link
G MT-ND2 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 no_association ISO DNA:mutation::m.5460G>A RGD PMID:1352971 PMID:1370613 RGD:5507833 RGD:5507834 NCBI chr MT:3,914...4,955
Ensembl chr MT:3,914...4,957 		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:10,201...11,578
Ensembl chr MT:10,201...11,578 		JBrowse link
G MT2A metallothionein 1H ISO mRNA:decreased expression:cerebral cortex (rat) RGD PMID:16914836 PMID:22766972 RGD:10412319 RGD:10412320 NCBI chr 2:59,607,926...59,608,825
Ensembl chr 2:59,607,927...59,626,727 		JBrowse link
G MTHFR methylenetetrahydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17192785 NCBI chr 2:84,445,526...84,457,435
Ensembl chr 2:84,380,919...84,536,818 		JBrowse link
G NAE1 NEDD8 activating enzyme E1 subunit 1 ISO RGD PMID:14557245 RGD:2302388 NCBI chr 5:82,462,690...82,486,097
Ensembl chr 5:82,462,744...82,486,100 		JBrowse link
G NAPB NSF attachment protein beta ISO protein:decreased expression:temporal cortex RGD PMID:11244216 RGD:10412652 NCBI chr24:217,287...258,278
Ensembl chr24:217,381...255,752 		JBrowse link
G NBN nibrin ISO RGD PMID:15337312 RGD:2317734 NCBI chr29:35,416,093...35,477,569
Ensembl chr29:35,416,093...35,477,563 		JBrowse link
G NCAM1 neural cell adhesion molecule 1 ISO RGD PMID:31028587 RGD:40925918 NCBI chr 5:19,895,587...20,192,334
Ensembl chr 5:19,895,613...20,191,995 		JBrowse link
G NCAM2 neural cell adhesion molecule 2 ISO ClinVar Annotator: match by term: Alzheimer disease ClinVar PMID:16369530 PMID:16921174 PMID:24691562 NCBI chr31:16,912,768...17,434,854
Ensembl chr31:16,912,908...17,429,510 		JBrowse link
G NCF2 neutrophil cytosolic factor 2 ISO protein:altered localization RGD PMID:10873554 RGD:2314452 NCBI chr 7:16,914,629...16,946,370
Ensembl chr 7:16,904,031...16,945,372 		JBrowse link
G NCK2 NCK adaptor protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:33589840 NCBI chr10:37,584,351...37,734,388
Ensembl chr10:37,585,565...37,732,994 		JBrowse link
G NCSTN nicastrin onset
no_association		 ISO DNA:SNPs, haplotype:introns:multiple
DNA:SNPs:promoter:-796T>G, -1216C>A (human)
CTD Direct Evidence: marker/mechanism
DNA:SNP:promoter:-436C>T (human)
protein:increased modification:brain
DNA:missense mutation: :417N>Y (human)
DNA:SNP:promoter:-922G>T (rs10752637) (human)
DNA:missense mutation, SNPs:exon, intron, 3' utr:multiple		 RGD
CTD		 PMID:11992262 PMID:14642438 PMID:15157994 PMID:17192785 PMID:19394408 More... RGD:13801048 RGD:13801049 RGD:13801050 RGD:13801051 RGD:13801052 RGD:13801187 RGD:13801188 NCBI chr38:21,878,071...21,891,362
Ensembl chr38:21,685,868...21,892,097 		JBrowse link
G NDUFA2 NADH:ubiquinone oxidoreductase subunit A2 ISO RGD PMID:28474567 RGD:13792588 NCBI chr 2:35,803,452...35,805,530
Ensembl chr 2:35,803,453...35,805,531 		JBrowse link
G NDUFA5 NADH:ubiquinone oxidoreductase subunit A5 ISO RGD PMID:19760337 RGD:13801191 NCBI chr14:11,995,862...12,008,257 JBrowse link
G NDUFA6 NADH:ubiquinone oxidoreductase subunit A6 ISO mRNA:increased expression:blood RGD PMID:26943237 RGD:11572212 NCBI chr10:23,283,951...23,292,457
Ensembl chr10:23,283,933...23,292,638 		JBrowse link
G NDUFB3 NADH:ubiquinone oxidoreductase subunit B3 ISO RGD PMID:28474567 RGD:13792588 NCBI chr37:10,240,109...10,247,487
Ensembl chr37:10,240,213...10,247,486 		JBrowse link
G NDUFB8 NADH:ubiquinone oxidoreductase subunit B8 ISO RGD PMID:14570706 RGD:1358651 NCBI chr28:13,249,067...13,253,670
Ensembl chr28:13,249,070...13,253,619 		JBrowse link
G NDUFS3 NADH:ubiquinone oxidoreductase core subunit S3 onset ISO RGD PMID:28242297 RGD:13824970 NCBI chr18:42,069,402...42,075,843
Ensembl chr18:42,069,398...42,076,921 		JBrowse link
G NECAB3 N-terminal EF-hand calcium binding protein 3 ISO protein:increased expression:cerebral cortex,cytoplasm: RGD PMID:11939591 RGD:10401093 NCBI chr24:22,895,149...22,904,689
Ensembl chr24:22,878,402...22,904,656 		JBrowse link
G NECTIN2 nectin cell adhesion molecule 2 ISO DNA:SNP: :rs6859 (human)
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:22159054 PMID:29107063 PMID:30319691 PMID:30320580 RGD:6484658 NCBI chr 1:110,543,140...110,569,168
Ensembl chr 1:110,543,247...110,569,143 		JBrowse link
G NEFL neurofilament light chain ISO protein:increased expression:CSF (human) RGD PMID:29368621 PMID:29391125 RGD:127284889 RGD:127285384 NCBI chr25:32,463,361...32,468,965
Ensembl chr25:32,463,452...32,467,224 		JBrowse link
G NEFM neurofilament medium chain ISO protein:decreased glycosylation:cerebral cortex RGD PMID:17687114 RGD:9743945 NCBI chr25:32,493,517...32,498,615
Ensembl chr25:32,493,675...32,498,570 		JBrowse link
G NFE2L2 NFE2 like bZIP transcription factor 2 treatment
onset		 ISO protein:increased expression:brain, nucleus
DNA:snps, haplotype:5' utr, intron:multiple (human)		 RGD PMID:19805328 PMID:20064547 PMID:22913737 PMID:23771816 RGD:10412683 RGD:10412685 RGD:10412689 RGD:6893326 NCBI chr36:20,989,205...21,087,044
Ensembl chr36:20,989,360...21,012,524 		JBrowse link
G NGB neuroglobin treatment ISO RGD PMID:23428737 RGD:9743955 NCBI chr 8:50,081,960...50,086,071
Ensembl chr 8:50,081,960...50,085,435 		JBrowse link
G NGF nerve growth factor ISO RGD PMID:21368378 RGD:5144128 NCBI chr17:52,900,647...52,901,607
Ensembl chr17:52,900,647...52,901,607 		JBrowse link
G NGFR nerve growth factor receptor no_association
treatment		 ISO DNA:SNPs, haplotypes: :multiple
protein:decreased expression:basal nucleus of telencephalon, neuron
DNA:SNP:CDS:rs2072446
protein:altered expression:urine
protein:altered localization:brain		 RGD PMID:2557638 PMID:8215963 PMID:10683291 PMID:18780967 PMID:19070649 More... RGD:10413891 RGD:10413892 RGD:10413893 RGD:10413894 RGD:10413895 RGD:10414073 RGD:5508225 RGD:5508228 NCBI chr 9:25,598,468...25,621,021
Ensembl chr 9:25,601,074...25,623,274 		JBrowse link
G NOG noggin ISO RGD PMID:19463786 RGD:10414082 NCBI chr 9:31,453,604...31,456,060 JBrowse link
G NOS1 nitric oxide synthase 1 no_association
susceptibility		 ISO DNA:SNP:exon:-84G>A (human)
DNA:repeat:exon
DNA:repeat:promoter		 RGD PMID:10964481 PMID:12384247 PMID:17418914 PMID:21098972 RGD:13824974 RGD:13824975 RGD:13824976 RGD:13824978 NCBI chr26:13,787,341...13,895,176
Ensembl chr26:13,786,309...13,962,332 		JBrowse link
G NOS2 nitric oxide synthase 2 ISO RGD PMID:12384247 PMID:16908860 PMID:21163295 RGD:13824978 RGD:4891161 RGD:5508721 NCBI chr 9:42,171,821...42,210,217
Ensembl chr 9:42,171,821...42,208,588 		JBrowse link
G NOS3 nitric oxide synthase 3 onset ISO DNA:snp:cds:p.E298D (human)
ClinVar Annotator: match by term: Alzheimer disease | ClinVar Annotator: match by term: Alzheimer disease, late-onset, susceptibility to		 RGD
ClinVar		 PMID:9737779 PMID:9894802 PMID:10475066 PMID:10510054 PMID:10514107 More... RGD:1358752 NCBI chr16:15,054,196...15,072,454
Ensembl chr16:15,011,344...15,072,277 		JBrowse link
G NPY neuropeptide Y treatment ISO CTD Direct Evidence: marker/mechanism
protein:decreased expression:plasma		 RGD
CTD		 PMID:8592643 PMID:11709213 PMID:22266216 RGD:10431479 RGD:10432246 NCBI chr14:37,824,579...37,831,289
Ensembl chr14:37,823,861...37,831,443 		JBrowse link
G NRG1 neuregulin 1 disease_progression ISO protein:decreased expression:hippocampus RGD PMID:12528817 PMID:27558862 PMID:29295823 PMID:29914798 RGD:10449002 RGD:13703135 RGD:405650194 RGD:41404730 NCBI chr16:31,697,958...32,771,888
Ensembl chr16:31,706,851...32,771,932 		JBrowse link
G NRGN neurogranin ISO RGD PMID:9329454 RGD:9835394 NCBI chr 5:9,673,107...9,679,819
Ensembl chr 5:9,673,809...9,679,799 		JBrowse link
G NRIP1 nuclear receptor interacting protein 1 ISO ClinVar Annotator: match by term: Alzheimer disease ClinVar PMID:16369530 PMID:16921174 PMID:24691562 NCBI chr31:11,852,330...11,951,735
Ensembl chr31:11,855,338...11,932,056 		JBrowse link
G NRP1 neuropilin 1 severity ISO mRNA,protein:increased expression:brain RGD PMID:34745215 RGD:401901163 NCBI chr 2:3,416,062...3,553,929
Ensembl chr 2:3,413,821...3,552,483 		JBrowse link
G NTF3 neurotrophin 3 ISO DNA:missense mutation:cds:p.G63E (human) RGD PMID:9502217 RGD:1358754 NCBI chr27:39,383,017...39,454,613
Ensembl chr27:39,383,152...39,454,601 		JBrowse link
G NTN1 netrin 1 treatment ISO RGD PMID:30066400 RGD:13782183 NCBI chr 5:33,654,723...33,825,832
Ensembl chr 5:33,637,142...33,825,899 		JBrowse link
G NTRK1 neurotrophic receptor tyrosine kinase 1 disease_progression ISO mRNA:decreased expression:brain
early onset sporadic AD; DNA:SNP:CDS:rs6336		 RGD PMID:18780967 PMID:21397006 RGD:5508228 RGD:5684531 NCBI chr 7:41,140,931...41,159,326
Ensembl chr 7:41,140,879...41,159,288 		JBrowse link
G NTRK2 neurotrophic receptor tyrosine kinase 2 treatment ISO sporadic AD; DNA:SNP:intron:rs2289656 RGD PMID:18780967 PMID:21900882 PMID:24877042 RGD:10059402 RGD:5508228 RGD:5684548 NCBI chr 1:74,447,927...74,777,910
Ensembl chr 1:74,449,060...74,777,032 		JBrowse link
G NUDT1 nudix hydrolase 1 ISO protein:decreased expression:hippocampus RGD PMID:21538080 RGD:10449033 NCBI chr 6:14,874,459...14,881,517
Ensembl chr 6:14,859,518...14,882,704 		JBrowse link
G OPA1 OPA1 mitochondrial dynamin like GTPase ISO protein:decreased expression:brain RGD PMID:19605646 RGD:7800727 NCBI chr23:52,068,123...52,154,410
Ensembl chr23:52,068,118...52,151,593 		JBrowse link
G PAK1 p21 (RAC1) activated kinase 1 ISO protein:altered localization RGD PMID:18347024 RGD:2299169 NCBI chr21:21,341,530...21,409,535
Ensembl chr21:21,265,484...21,408,416 		JBrowse link
G PARP1 poly(ADP-ribose) polymerase 1 susceptibility ISO DNA:haplotypes: :
DNA:haplotypes:cds:rs1136410,rs1805404 (human)
protein:increased activity:brain:		 RGD PMID:17290104 PMID:20486200 PMID:21616968 PMID:22051244 RGD:10413885 RGD:10413887 RGD:10413888 RGD:5510011 NCBI chr 7:38,503,072...38,542,556
Ensembl chr 7:38,503,067...38,542,127 		JBrowse link
G PAWR pro-apoptotic WT1 regulator ISO mRNA,protein:increased expression:brain: RGD PMID:9701251 RGD:9835364 NCBI chr15:22,114,014...22,159,287 JBrowse link
G PCK1 phosphoenolpyruvate carboxykinase 1 disease_progression ISO DNA:SNPs
DNA:SNP: :rs8192708(human)		 RGD PMID:17440948 PMID:20574532 RGD:10427727 RGD:2311642 NCBI chr24:42,538,858...42,544,200
Ensembl chr24:42,538,882...42,544,198 		JBrowse link
G PCMT1 protein-L-isoaspartate (D-aspartate) O-methyltransferase ISO mRNA:increased expression:cerebral cortex: RGD PMID:8736634 RGD:10448277 NCBI chr 1:40,494,441...40,539,453
Ensembl chr 1:40,494,461...40,538,937 		JBrowse link
G PCSK1N proprotein convertase subtilisin/kexin type 1 inhibitor ISO RGD PMID:14746899 RGD:1642360 NCBI chr  X:42,030,708...42,036,363
Ensembl chr  X:41,962,524...42,036,586 		JBrowse link
G PDE2A phosphodiesterase 2A treatment ISO RGD PMID:22771768 RGD:10449025 NCBI chr21:25,542,030...25,635,661
Ensembl chr21:25,542,268...25,635,660 		JBrowse link
G PDGFB platelet derived growth factor subunit B ISO protein:increased expression:plasma: RGD PMID:22279551 RGD:10449445 NCBI chr10:25,798,877...25,819,422
Ensembl chr10:25,798,938...25,817,746 		JBrowse link
G PEBP1 phosphatidylethanolamine binding protein 1 onset ISO mRNA:decreased expression:hippocampus RGD PMID:7770119 PMID:10210891 PMID:11853019 PMID:15941609 RGD:2302735 RGD:2302863 RGD:2302864 RGD:2302869 NCBI chr26:14,522,124...14,526,370
Ensembl chr26:14,500,074...14,529,354 		JBrowse link
G PGRMC1 progesterone receptor membrane component 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25390692 NCBI chr  X:91,329,243...91,337,951
Ensembl chr  X:91,329,243...91,337,951 		JBrowse link
G PHACTR2 phosphatase and actin regulator 2 ISO mRNA: splice variants RGD PMID:20590401 RGD:6483097 NCBI chr 1:35,158,678...35,348,875
Ensembl chr 1:35,088,248...35,342,584 		JBrowse link
G PICALM phosphatidylinositol binding clathrin assembly protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:19734902 PMID:21460841 NCBI chr21:13,437,819...13,540,167
Ensembl chr21:13,437,925...13,539,616 		JBrowse link
G PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma ISO RGD PMID:20025958 RGD:6482689 NCBI chr18:13,576,966...13,611,748
Ensembl chr18:13,570,999...13,611,141 		JBrowse link
G PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 onset ISO DNA:polymorphism: :p.M326I (human) RGD PMID:12185156 RGD:1625215 NCBI chr 2:53,447,802...53,527,563
Ensembl chr 2:53,448,286...53,524,970 		JBrowse link
G PILRA paired immunoglobin like type 2 receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:33589840 NCBI chr 6:9,271,761...9,289,374 JBrowse link
G PIN1 peptidylprolyl cis/trans isomerase, NIMA-interacting 1 ISO OMIM:104300 | OMIM:502500 | OMIM:604154 | OMIM:608907 MouseDO NCBI chr20:51,156,887...51,168,131
Ensembl chr20:51,157,121...51,168,136 		JBrowse link
G PLAU plasminogen activator, urokinase no_association ISO ClinVar Annotator: match by term: Alzheimer disease, late-onset, susceptibility to RGD
ClinVar		 PMID:12898287 PMID:15615772 PMID:15616835 PMID:16341549 PMID:19889475 More... RGD:6483807 NCBI chr 4:24,329,139...24,333,893
Ensembl chr 4:24,328,925...24,334,851 		JBrowse link
G PLCB1 phospholipase C beta 1 ISO OMIM:104300 | OMIM:502500 | OMIM:604154 | OMIM:608907 RGD
MouseDO		 PMID:8534418 RGD:13825140 NCBI chr24:13,337,285...13,996,218
Ensembl chr24:13,322,296...13,995,539 		JBrowse link
G PLCD1 phospholipase C delta 1 ISO ClinVar Annotator: match by term: Alzheimer disease, early onset ClinVar PMID:25741868 NCBI chr23:7,782,495...7,804,969
Ensembl chr23:7,781,787...7,805,336 		JBrowse link
G PLCG1 phospholipase C gamma 1 ISO RGD PMID:8534418 RGD:13825140 NCBI chr24:29,198,536...29,213,899
Ensembl chr24:29,198,556...29,214,714 		JBrowse link
G PLCG2 phospholipase C gamma 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28714976 NCBI chr 5:70,054,683...70,233,459
Ensembl chr 5:70,059,255...70,207,049 		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 chr 9:22,808,505...22,810,587
Ensembl chr 9:22,808,601...22,810,551 		JBrowse link
G PON1 paraoxonase 1 ISO DNA:polymorphisms:multiple SNPs RGD PMID:16319130 RGD:5509926 NCBI chr14:20,565,620...20,600,774
Ensembl chr14:20,565,641...20,642,985 		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 chr14:20,652,905...20,680,945
Ensembl chr14:20,652,905...20,680,980 		JBrowse link
G PON3 paraoxonase 3 ISO DNA:polymorphisms:multiple SNPs RGD PMID:16319130 RGD:5509926 NCBI chr14:20,615,180...20,642,807
Ensembl chr14:20,565,641...20,642,985 		JBrowse link
G PPARA peroxisome proliferator activated receptor alpha no_association ISO DNA:SNP:CDS:rs1800206, p.L162V
No association found for any polymorphisms of PPARA, including rs1800206		 RGD PMID:12938026 PMID:17850927 RGD:5561899 RGD:5561928 NCBI chr10:19,934,020...20,006,096
Ensembl chr10:19,934,165...20,006,146 		JBrowse link
G PPARG peroxisome proliferator activated receptor gamma no_association
susceptibility		 ISO CTD Direct Evidence: marker/mechanism
DNA:SNPs: :multiple (human)
DNA:SNP:cds:p.P12A(human)		 CTD
RGD		 PMID:15993441 PMID:16407166 PMID:17440948 PMID:18573313 PMID:30328325 RGD:2301852 RGD:2311642 NCBI chr20:6,134,618...6,265,481
Ensembl chr20:6,050,357...6,207,981 		JBrowse link
G PPARGC1A PPARG coactivator 1 alpha disease_progression ISO mRNA, protein:decreased expression:hippocampal formation (human) RGD PMID:19273754 PMID:22510382 PMID:22540007 RGD:6484260 RGD:7242017 RGD:7242180 NCBI chr 3:85,645,942...86,284,570
Ensembl chr 3:86,016,140...86,281,269 		JBrowse link
G PPP1R9B protein phosphatase 1 regulatory subunit 9B severity ISO protein:decreased expression:brain, synaptosome (human)
protein:decreased expression:cerebral cortex (mouse)		 RGD PMID:23764848 RGD:10043802 NCBI chr 9:26,135,982...26,152,303
Ensembl chr 9:26,137,464...26,151,810 		JBrowse link
G PPP2R2B protein phosphatase 2 regulatory subunit Bbeta ISO DNA:repeat RGD PMID:21029765 RGD:5686295 NCBI chr 2:41,005,259...41,447,048
Ensembl chr 2:41,005,644...41,459,878 		JBrowse link
G PPP3R1 protein phosphatase 3 regulatory subunit B, alpha disease_progression ISO DNA:SNP: :rs1868402 (human) RGD PMID:21223993 PMID:23727081 RGD:13830878 RGD:13830879 NCBI chr10:67,242,552...67,308,469
Ensembl chr10:67,244,329...67,275,487 		JBrowse link
G PRKCB protein kinase C beta ISO RGD PMID:8534418 RGD:13825140 NCBI chr 6:21,742,970...22,064,360
Ensembl chr 6:21,742,973...22,065,185 		JBrowse link
G PRKN parkin RBR E3 ubiquitin protein ligase treatment ISO protein:increased expression:vessel,astrocyte: RGD PMID:19716418 PMID:24105468 RGD:10412735 RGD:10412736 NCBI chr 1:49,886,887...51,201,930
Ensembl chr 1:49,889,005...51,201,764 		JBrowse link
G PRNP prion protein ISO ClinVar Annotator: match by term: Alzheimer disease, early-onset, susceptibility to ClinVar PMID:1353341 PMID:1677164 PMID:1682813 PMID:1684089 PMID:1971924 More... NCBI chr24:16,845,224...16,862,319
Ensembl chr24:16,846,207...16,859,815 		JBrowse link
G PSEN1 presenilin 1 ISO ClinVar Annotator: match by term: Alzheimer disease | ClinVar Annotator: match by term: Early-Onset Familial Alzheimer Disease | ClinVar Annotator: match by term: Familial Alzheimer disease ClinVar PMID:8773614 PMID:9384602 PMID:9452052 PMID:9851443 PMID:9851450 More... NCBI chr 8:46,495,551...46,569,532
Ensembl chr 8:46,495,624...46,569,532 		JBrowse link
G PSEN2 presenilin 2 severity ISO DNA:missense mutation:cds:p.N141I (human)
ClinVar Annotator: match by term: Alzheimer disease | ClinVar Annotator: match by term: Alzheimer's disease | ClinVar Annotator: match by term: Early-Onset Familial Alzheimer Disease		 RGD
ClinVar		 PMID:9384602 PMID:10976645 PMID:11723295 PMID:14623725 PMID:15130954 More... RGD:9743900 NCBI chr 7:38,147,157...38,163,023
Ensembl chr 7:38,147,173...38,166,722 		JBrowse link
G PTGER4 prostaglandin E receptor 4 ISO RGD PMID:22044482 RGD:6483525 NCBI chr 4:68,663,362...68,676,241
Ensembl chr 4:68,663,364...68,676,358 		JBrowse link
G PTGS1 prostaglandin-endoperoxide synthase 1 ISO protein:increased expression:cerebral cortex RGD PMID:10560656 PMID:20157512 PMID:21701788 RGD:5688147 RGD:5688156 RGD:5688249 NCBI chr 9:60,195,118...60,216,847
Ensembl chr 9:60,195,124...60,216,819 		JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 ISO mRNA:decreased expression:neocortex, hippocampus RGD PMID:8892355 PMID:9740394 PMID:21701788 RGD:5688147 RGD:5688252 RGD:5688254 NCBI chr 7:19,668,079...19,674,903
Ensembl chr 7:19,668,082...19,674,903 		JBrowse link
G PTK2B protein tyrosine kinase 2 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:33589840 NCBI chr25:30,137,546...30,264,221
Ensembl chr25:30,138,209...30,264,133 		JBrowse link
G PTPN5 protein tyrosine phosphatase non-receptor type 5 severity ISO protein:increased expression:dentate gyrus (mouse)
protein:increased expression:prefrontal cortex (human)		 RGD PMID:16237174 PMID:20427654 PMID:20956308 RGD:10044037 RGD:9835007 RGD:9835008 NCBI chr21:41,097,563...41,154,247
Ensembl chr21:41,097,569...41,136,706 		JBrowse link
G PYY peptide YY ISO CTD Direct Evidence: marker/mechanism CTD PMID:11709213 NCBI chr 9:19,370,520...19,386,609 JBrowse link
G RBM11 RNA binding motif protein 11 ISO ClinVar Annotator: match by term: Alzheimer disease ClinVar PMID:16369530 PMID:16921174 PMID:24691562 NCBI chr31:11,204,273...11,217,526
Ensembl chr31:11,203,207...11,217,509 		JBrowse link
G RCAN1 regulator of calcineurin 1 ISO RGD PMID:11483593 RGD:1580889 NCBI chr31:29,908,046...30,002,412
Ensembl chr31:29,909,388...30,002,418 		JBrowse link
G RELN reelin ISO CTD Direct Evidence: marker/mechanism
protein: increased expression: brain
protein:increased expression:cerebrospinal fluid (human)		 CTD
RGD		 PMID:12645087 PMID:20025970 PMID:20610758 RGD:13207521 RGD:729771 NCBI chr18:16,275,822...16,773,875
Ensembl chr18:16,275,837...16,773,875 		JBrowse link
G S100B S100 calcium binding protein B severity ISO protein:decreased expression:cerebrospinal fluid RGD PMID:19705461 PMID:20105309 PMID:20953641 PMID:21080947 RGD:5508775 RGD:5508780 RGD:5508787 RGD:5508798 NCBI chr31:39,783,990...39,788,289
Ensembl chr31:39,784,506...39,788,183 		JBrowse link
G SAMSN1 SAM domain, SH3 domain and nuclear localization signals 1 ISO ClinVar Annotator: match by term: Alzheimer disease ClinVar PMID:16369530 PMID:16921174 PMID:24691562 NCBI chr31:11,485,964...11,756,275
Ensembl chr31:11,486,649...11,754,607 		JBrowse link
G SELL selectin L severity ISO protein:decreased expression:plasma RGD PMID:21484243 RGD:5685677 NCBI chr 7:28,906,752...28,927,959
Ensembl chr 7:28,906,809...29,094,008 		JBrowse link
G SELP selectin P severity ISO protein:decreased expression:plasma RGD PMID:21484243 RGD:5685677 NCBI chr 7:28,956,428...28,997,266
Ensembl chr 7:28,958,486...28,996,313 		JBrowse link
G SERPINE2 serpin family E member 2 ISO RGD PMID:2813392 RGD:2317937 NCBI chr37:29,699,551...29,750,151
Ensembl chr37:29,700,024...29,724,228 		JBrowse link
G SERPINF1 serpin family F member 1 ISO protein:increased expression:cerebrospinal fluid, serum (human) RGD PMID:17073149 PMID:28320113 RGD:2312353 RGD:27226702 NCBI chr 9:45,891,368...45,902,768
Ensembl chr 9:45,891,410...45,902,765 		JBrowse link
G SHC1 SHC adaptor protein 1 ISO protein:increased phosphorylation:neuron RGD PMID:15837797 RGD:1643185 NCBI chr 7:42,501,829...42,509,613
Ensembl chr 7:42,500,185...42,508,276 		JBrowse link
G SIRT1 sirtuin 1 treatment ISO protein:increased expression:forebrain (mouse) RGD PMID:16751189 PMID:17581637 RGD:10047116 RGD:2290573 NCBI chr 4:19,188,616...19,220,031
Ensembl chr 4:19,188,675...19,218,279 		JBrowse link
G SIRT3 sirtuin 3 ISO mRNA:increased expression:temporal cortex
mRNA:increased expression:brain		 RGD PMID:23139766 RGD:9586045 NCBI chr18:25,369,183...25,388,126
Ensembl chr18:25,369,382...25,388,118 		JBrowse link
G SLC18A3 solute carrier family 18 member A3 ISO mRNA:decreased expression:cerebral cortex
mRNA, protein:decreased expression:frontal association cortex 		RGD PMID:21333939 PMID:21743130 RGD:5686430 RGD:5686673 NCBI chr28:1,476,873...1,478,538
Ensembl chr28:1,476,774...1,478,505 		JBrowse link
G SLC25A4 solute carrier family 25 member 4 ISO RGD PMID:21958963 RGD:9681463 NCBI chr16:45,454,660...45,458,606
Ensembl chr16:45,411,810...45,542,162 		JBrowse link
G SLC2A1 solute carrier family 2 member 1 ISO RGD PMID:8179300 RGD:2313620 NCBI chr15:463,307...493,145
Ensembl chr15:463,237...493,140 		JBrowse link
G SLC2A3 solute carrier family 2 member 3 ISO RGD PMID:8179300 RGD:2313620 NCBI chr27:37,297,932...37,309,604
Ensembl chr27:37,297,932...37,428,410 		JBrowse link
G SLC2A4 solute carrier family 2 member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24055495 NCBI chr 5:32,238,095...32,244,022
Ensembl chr 5:32,238,095...32,244,021 		JBrowse link
G SLC30A4 solute carrier family 30 member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16580781 NCBI chr30:11,827,719...11,859,413
Ensembl chr30:11,834,678...11,859,311 		JBrowse link
G SLC30A6 solute carrier family 30 member 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16580781 NCBI chr17:25,450,766...25,493,118
Ensembl chr17:25,450,846...25,490,952 		JBrowse link
G SLC8A1 solute carrier family 8 member A1 ISO protein:altered expression:synaptosome: RGD PMID:21382638 RGD:13628395 NCBI chr17:32,004,207...32,381,399
Ensembl chr17:32,005,245...32,307,700 		JBrowse link
G SLC8A2 solute carrier family 8 member A2 ISO protein:altered expression:synaptosome: RGD PMID:21382638 RGD:13628395 NCBI chr 1:108,544,825...108,575,894
Ensembl chr 1:108,544,509...108,575,891 		JBrowse link
G SLC8A3 solute carrier family 8 member A3 ISO protein:altered expression:parietal cortex, synaptosome: RGD PMID:21382638 RGD:13628395 NCBI chr 8:43,780,363...43,926,142
Ensembl chr 8:43,781,120...43,926,343 		JBrowse link
G SNAP91 synaptosome associated protein 91 ISO denntate gyrus, hippocampus, entorhinal cortex
protein:decreased expression:dentate gyrus molecular layer,hippocampus,entorhinal, tempocampal corteces:		 RGD PMID:20847448 RGD:13506238 NCBI chr12:43,919,925...44,058,315
Ensembl chr12:43,919,925...44,058,616 		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 chr32:12,915,871...13,079,338
Ensembl chr32:12,916,215...13,060,383 		JBrowse link
G SNCB synuclein beta ISO mRNA:decreased expression:brain RGD PMID:11578596 RGD:6480194 NCBI chr 4:36,710,236...36,719,455
Ensembl chr 4:36,616,039...36,764,501 		JBrowse link
G SNCG synuclein gamma ISO protein:increased expression:cerebrospinal fluid RGD PMID:18577885 RGD:6478792 NCBI chr 4:34,604,867...34,608,851
Ensembl chr 4:34,605,091...34,608,842 		JBrowse link
G SNRNP70 small nuclear ribonucleoprotein U1 subunit 70 ISO protein:increased expression:cerebral cortex (human) RGD PMID:24023061 RGD:10448959 NCBI chr 1:107,340,484...107,356,280
Ensembl chr 1:107,113,974...107,356,241 		JBrowse link
G SNRPA small nuclear ribonucleoprotein polypeptide A ISO protein:increased expression:cerebral cortex (human) RGD PMID:24023061 RGD:10448959 NCBI chr 1:113,018,268...113,030,827
Ensembl chr 1:113,018,304...113,030,734 		JBrowse link
G SOD1 superoxide dismutase 1 ISO protein:decreased expression:frontal lobe (human)
mRNA:altered expression:hippocampus, hypothalamus (rat)		 RGD PMID:20027333 PMID:22072713 RGD:8655610 RGD:8657017 NCBI chr31:26,540,291...26,544,212
Ensembl chr31:26,486,274...26,662,815 		JBrowse link
G SOD2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism RGD
CTD		 PMID:16369462 PMID:19374891 RGD:1579972 NCBI chr 1:48,943,472...48,955,158
Ensembl chr 1:48,836,262...48,955,706 		JBrowse link
G SORL1 sortilin related receptor 1 ISO RGD PMID:15313836 RGD:1581303 NCBI chr 5:12,493,750...12,650,530
Ensembl chr 5:12,431,377...12,650,784 		JBrowse link
G SPINT1 serine peptidase inhibitor, Kunitz type 1 ISO protein:decreased expression:parietal cortex (human) RGD PMID:9743567 RGD:1581317 NCBI chr30:7,976,094...7,989,019
Ensembl chr30:7,975,235...7,988,339 		JBrowse link
G SPRED2 sprouty related EVH1 domain containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:33589840 NCBI chr10:64,764,275...64,815,937
Ensembl chr10:64,764,311...64,867,009 		JBrowse link
G STAT3 signal transducer and activator of transcription 3 ISO protein:decreased tyrosine phosphorylation:dentate gyrus, CA1 field of hippocampus RGD PMID:18813209 RGD:10403051 NCBI chr 9:20,539,660...20,614,631
Ensembl chr 9:20,539,697...20,612,672 		JBrowse link
G STOX1 storkhead box 1 severity ISO protein:increased expression:CA4 field of hippocampus (human) RGD PMID:20110611 RGD:11554028 NCBI chr 4:20,013,893...20,065,480
Ensembl chr 4:20,014,007...20,060,394 		JBrowse link
G SYP synaptophysin ISO mRNA,protein:decreased expression:hippocampus, temporal cortex
protein:decreased expression:dentate gyrus molecular layer,hippocampus,entorhinal, tempocampal corteces:
denntate gyrus, hippocampus, entorhinal cortex		 RGD PMID:20847448 RGD:13506238 NCBI chr  X:42,288,071...42,301,802
Ensembl chr  X:42,288,148...42,299,487 		JBrowse link
G TAP2 transporter 2, ATP binding cassette subfamily B member susceptibility ISO DNA:SNP: :(rs241448)(human) RGD PMID:16595160 RGD:6482265 NCBI chr12:2,407,512...2,417,469
Ensembl chr12:2,378,126...2,432,303 		JBrowse link
G TARDBP TAR DNA binding protein ISO protein:increased expression, phosphorylation:motor cortex
protein:increased expression:brain		 RGD PMID:21070634 PMID:21376022 RGD:5687139 RGD:5687178 NCBI chr 2:84,987,752...84,998,136
Ensembl chr 2:84,989,952...84,998,593 		JBrowse link
G TBP TATA-box binding protein ISO protein:increased expression:hippocampus, entorhinal cortex (human) RGD PMID:15193429 RGD:5684338 NCBI chr12:72,458,959...72,479,271
Ensembl chr12:72,459,041...72,479,124 		JBrowse link
G TDO2 tryptophan 2,3-dioxygenase treatment ISO RGD PMID:27190010 RGD:13601984 NCBI chr15:53,406,110...53,424,260
Ensembl chr15:53,405,957...53,423,958 		JBrowse link
G TFAM transcription factor A, mitochondrial susceptibility ISO DNA:SNP:intron:IVS4+113A>G (rs2306604) (human)
CTD Direct Evidence: marker/mechanism
DNA:SNP: :rs1937 (human)		 RGD
CTD		 PMID:17192785 PMID:17537576 PMID:21799244 RGD:6767575 RGD:6771185 NCBI chr 4:10,585,320...10,600,664
Ensembl chr 4:10,585,480...10,598,058 		JBrowse link
G THBD thrombomodulin ISO protein:increased expression:blood RGD PMID:15760641 RGD:5685018 NCBI chr24:599,773...601,649
Ensembl chr24:599,773...601,649 		JBrowse link
G TIMP2 TIMP metallopeptidase inhibitor 2 ISO RGD PMID:12614934 RGD:1580169 NCBI chr 9:2,521,882...2,533,883
Ensembl chr 9:2,521,882...2,533,989 		JBrowse link
G TLR4 toll like receptor 4 ISO RGD PMID:16157451 RGD:1580680 NCBI chr11:71,356,390...71,367,166
Ensembl chr11:71,356,390...71,367,165 		JBrowse link
G TMED10 transmembrane p24 trafficking protein 10 ISO protein:decreased expression:brain cortex (human) RGD PMID:18652896 RGD:2317276 NCBI chr 8:48,221,372...48,257,242 JBrowse link
G TMPRSS15 transmembrane serine protease 15 ISO ClinVar Annotator: match by term: Alzheimer disease ClinVar PMID:16369530 PMID:16921174 PMID:24691562 NCBI chr31:14,605,314...14,725,973
Ensembl chr31:14,607,971...14,726,144 		JBrowse link
G TNF tumor necrosis factor susceptibility
onset
no_association		 ISO DNA:polymorphism:promoter:-308G>A(human)
ClinVar Annotator: match by term: Alzheimer disease, protection against
DNA:polymorphism:promoter:multiple(human)		 RGD
ClinVar		 PMID:10400991 PMID:15468911 PMID:16516271 PMID:16908746 PMID:18834925 More... RGD:13825248 RGD:13825253 RGD:13825256 RGD:13825257 NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425 		JBrowse link
G TNFRSF1A TNF receptor superfamily member 1A no_association ISO protein:increased expression:cerebrospinal fluid:
protein:increased expression:brain:		 RGD PMID:17267158 PMID:17724122 PMID:20110607 PMID:21978728 RGD:13825249 RGD:13825266 RGD:13825267 RGD:13825268 NCBI chr27:38,641,837...38,654,693
Ensembl chr27:38,638,753...38,700,282 		JBrowse link
G TNFRSF1B TNF receptor superfamily member 1B ISO protein:increased expression:cerebrospinal fluid:
protein:decreased expression:brain:		 RGD PMID:20110607 PMID:21978728 RGD:13825249 RGD:13825268 NCBI chr 2:84,140,179...84,151,219
Ensembl chr 2:84,141,911...84,157,191 		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 1:110,530,233...110,541,049
Ensembl chr 1:110,530,597...110,541,042 		JBrowse link
G TP53 tumor protein p53 ISO RGD PMID:17581637 RGD:2290573 NCBI chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109 		JBrowse link
G TPH1 tryptophan hydroxylase 1 ISO RGD PMID:15182943 RGD:1580467 NCBI chr21:40,545,379...40,571,620
Ensembl chr21:40,547,682...40,566,572 		JBrowse link
G TPI1 triosephosphate isomerase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19374891 NCBI chr27:38,154,519...38,157,900
Ensembl chr27:38,154,519...38,158,137 		JBrowse link
G TPP1 tripeptidyl peptidase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10320038 NCBI chr21:29,921,764...29,926,974
Ensembl chr21:29,921,764...29,926,986 		JBrowse link
G TREML1 triggering receptor expressed on myeloid cells like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24663666 PMID:28714976 NCBI chr12:9,915,692...9,928,322
Ensembl chr12:9,915,677...9,928,174 		JBrowse link
G TSC2 TSC complex subunit 2 ISO RGD PMID:16341938 RGD:1580518 NCBI chr 6:38,865,509...38,898,977
Ensembl chr 6:38,865,507...38,898,960 		JBrowse link
G TSPAN14 tetraspanin 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:33589840 NCBI chr 4:29,589,840...29,635,448
Ensembl chr 4:29,586,264...29,634,694 		JBrowse link
G TTR transthyretin ISO RGD PMID:16552785 RGD:1580525 NCBI chr 7:57,940,354...57,947,084
Ensembl chr 7:57,914,381...57,947,058 		JBrowse link
G UCHL1 ubiquitin C-terminal hydrolase L1 ISO RGD PMID:14722078 RGD:1580538 NCBI chr 3:71,396,694...71,430,395
Ensembl chr 3:71,370,822...71,411,350 		JBrowse link
G UCP1 uncoupling protein 1 ISO protein:decreased expression:plasma (human) RGD PMID:24498895 RGD:10045648 NCBI chr19:2,254,881...2,289,902 JBrowse link
G UQCRC1 ubiquinol-cytochrome c reductase core protein 1 ISO protein:decreased expression:temporal cortex
DNA:hypermethylation:promoter:		 RGD PMID:11130185 PMID:26943237 RGD:11572212 RGD:13831335 NCBI chr20:40,507,767...40,515,854
Ensembl chr20:40,506,907...40,520,110 		JBrowse link
G USP25 ubiquitin specific peptidase 25 ISO ClinVar Annotator: match by term: Alzheimer disease ClinVar PMID:16369530 PMID:16921174 PMID:24691562 NCBI chr31:12,555,614...12,692,765
Ensembl chr31:12,555,595...12,691,694 		JBrowse link
G VCP valosin containing protein ISO ClinVar Annotator: match by term: Alzheimer disease ClinVar PMID:30279455 NCBI chr11:51,636,986...51,651,749
Ensembl chr11:51,637,411...51,651,714 		JBrowse link
G VEGFA vascular endothelial growth factor A ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:15732116 RGD:1580571 NCBI chr12:12,209,032...12,224,978
Ensembl chr12:12,208,231...12,224,965 		JBrowse link
G VIM vimentin ISO protein:increased expression:brain RGD PMID:19728994 RGD:6480519 NCBI chr 2:19,671,316...19,679,367
Ensembl chr 2:19,671,316...19,679,466 		JBrowse link
G VLDLR very low density lipoprotein receptor ISO DNA:repeat RGD PMID:7550352 RGD:737739 NCBI chr 1:91,242,010...91,277,030
Ensembl chr 1:91,241,509...91,272,495 		JBrowse link
G VPS13C vacuolar protein sorting 13 homolog C ISO ClinVar Annotator: match by term: Alzheimer disease, early onset ClinVar PMID:25741868 NCBI chr30:26,600,181...26,776,347
Ensembl chr30:26,601,513...26,776,763 		JBrowse link
G VSNL1 visinin like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25806004 NCBI chr17:13,022,232...13,109,590 JBrowse link
G WT1 WT1 transcription factor ISO RGD PMID:12914969 RGD:1580623 NCBI chr18:35,099,660...35,148,767
Ensembl chr18:35,103,934...35,148,000 		JBrowse link
G WWOX WW domain containing oxidoreductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:30820047 NCBI chr 5:72,298,254...73,243,667
Ensembl chr 5:72,299,157...73,261,406 		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 chr23:38,031,633...38,131,413
Ensembl chr23:38,032,841...38,131,293 		JBrowse link
Alzheimer's disease 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: APP POLYMORPHISM | ClinVar Annotator: match by term: APP-related condition | ClinVar Annotator: match by term: Alzheimer disease type 1 OMIM
ClinVar		 PMID:1303172 PMID:1303239 PMID:1303275 PMID:1415269 PMID:1520398 More... NCBI chr31:21,351,207...21,614,466
Ensembl chr31:21,351,207...21,614,337 		JBrowse link
G HFE homeostatic iron regulator ISO ClinVar Annotator: match by term: Alzheimer disease type 1 ClinVar PMID:678784 PMID:8696333 PMID:8896549 PMID:8896550 PMID:8931958 More... NCBI chr35:24,031,479...24,038,922
Ensembl chr35:24,031,387...24,042,413 		JBrowse link
G MPO myeloperoxidase ISO ClinVar Annotator: match by term: Alzheimer disease type 1 ClinVar
OMIM		 PMID:6260268 PMID:7904599 PMID:8142659 PMID:8621627 PMID:9468285 More... NCBI chr 9:32,927,483...32,938,007
Ensembl chr 9:32,927,483...32,937,820 		JBrowse link
G NOS3 nitric oxide synthase 3 ISO ClinVar Annotator: match by term: Alzheimer disease type 1 ClinVar PMID:25741868 NCBI chr16:15,054,196...15,072,454
Ensembl chr16:15,011,344...15,072,277 		JBrowse link
G PLAU plasminogen activator, urokinase ISO OMIM NCBI chr 4:24,329,139...24,333,893
Ensembl chr 4:24,328,925...24,334,851 		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 ISO ClinVar Annotator: match by term: Alzheimer disease 18 ClinVar
OMIM		 PMID:19608551 PMID:24055016 NCBI chr30:23,605,724...23,732,038
Ensembl chr30:23,606,517...23,731,823 		JBrowse link
Alzheimer's disease 19 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PLD3 phospholipase D family member 3 ISO ClinVar Annotator: match by term: Alzheimer disease 19 ClinVar PMID:24336208 PMID:25832408 PMID:25832410 PMID:25832411 PMID:25832412 More... NCBI chr 1:113,305,146...113,322,705
Ensembl chr 1:113,305,445...113,312,632 		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 susceptibility ISO ClinVar Annotator: match by term: Alzheimer disease 2 | ClinVar Annotator: match by term: Alzheimer disease associated with APOE E4 | ClinVar Annotator: match by term: Late-onset familial alzheimer disease ClinVar
OMIM		 PMID:2987927 PMID:3353383 PMID:3922972 PMID:7263700 PMID:8294487 More... NCBI chr 1:110,525,717...110,528,534
Ensembl chr 1:110,525,722...110,528,440 		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 susceptibility ISO ClinVar Annotator: match by term: ALZHEIMER DISEASE, FAMILIAL, 3 | ClinVar Annotator: match by term: Alzheimer disease 3 ClinVar
OMIM		 PMID:8488843 PMID:9279208 PMID:9360638 PMID:10432380 PMID:10529625 More... NCBI chr 1:110,525,717...110,528,534
Ensembl chr 1:110,525,722...110,528,440 		JBrowse link
G KIF5C kinesin family member 5C ISO protein:decreased expression:cerebellum (human) RGD PMID:24569455 RGD:12859086 NCBI chr19:50,535,622...50,684,485
Ensembl chr19:50,535,456...50,668,738 		JBrowse link
G LRRK2 leucine rich repeat kinase 2 ISO ClinVar Annotator: match by term: Early onset Alzheimer disease with behavioral disturbance ClinVar PMID:18412265 PMID:18688798 PMID:18716801 PMID:18781329 PMID:19699188 More... NCBI chr27:13,282,824...13,420,917
Ensembl chr27:13,283,756...13,420,870 		JBrowse link
G PSEN1 presenilin 1 ISO ClinVar Annotator: match by term: ALZHEIMER DISEASE, FAMILIAL, 3 | ClinVar Annotator: match by term: Alzheimer disease 3 | ClinVar Annotator: match by term: Early onset Alzheimer disease with behavioral disturbance OMIM
ClinVar		 PMID:1985297 PMID:2025423 PMID:2793034 PMID:7550356 PMID:7581374 More... NCBI chr 8:46,495,551...46,569,532
Ensembl chr 8:46,495,624...46,569,532 		JBrowse link
Alzheimer's disease 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APOE apolipoprotein E ISO ClinVar Annotator: match by term: Alzheimer disease 4 | ClinVar Annotator: match by term: Alzheimer disease familial type 4 ClinVar PMID:2987927 PMID:3353383 PMID:3922972 PMID:7263700 PMID:8294487 More... NCBI chr 1:110,525,717...110,528,534
Ensembl chr 1:110,525,722...110,528,440 		JBrowse link
G PSEN1 presenilin 1 ISO ClinVar Annotator: match by term: Alzheimer disease 4 ClinVar PMID:8910898 PMID:9189043 PMID:9437013 PMID:9804121 PMID:10468510 More... NCBI chr 8:46,495,551...46,569,532
Ensembl chr 8:46,495,624...46,569,532 		JBrowse link
G PSEN2 presenilin 2 ISO ClinVar Annotator: match by term: Alzheimer disease 4 | ClinVar Annotator: match by term: Alzheimer disease familial type 4 OMIM
ClinVar		 PMID:7638622 PMID:7651536 PMID:8661049 PMID:8939861 PMID:8986743 More... NCBI chr 7:38,147,157...38,163,023
Ensembl chr 7:38,147,173...38,166,722 		JBrowse link
Alzheimer's disease 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SORCS1 sortilin related VPS10 domain containing receptor 1 ISO ClinVar Annotator: match by term: Alzheimer disease 6 ClinVar PMID:19241460 PMID:21280075 PMID:25741868 NCBI chr28:18,619,015...18,933,785
Ensembl chr28:18,622,234...18,797,249 		JBrowse link
Alzheimer's disease 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA7 ATP binding cassette subfamily A member 7 susceptibility ISO ClinVar Annotator: match by term: ALZHEIMER DISEASE 9, LATE-ONSET | ClinVar Annotator: match by term: Alzheimer disease 9 OMIM
ClinVar		 PMID:25741868 PMID:25807283 PMID:26141617 PMID:27066581 PMID:28492532 More... NCBI chr20:57,668,371...57,684,111
Ensembl chr20:57,667,706...57,677,342 		JBrowse link
G SORL1 sortilin related receptor 1 ISO ClinVar Annotator: match by term: Alzheimer disease 9 ClinVar PMID:28789839 NCBI chr 5:12,493,750...12,650,530
Ensembl chr 5:12,431,377...12,650,784 		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 chr31:21,351,207...21,614,466
Ensembl chr31:21,351,207...21,614,337 		JBrowse link
G ATP5PF ATP synthase peripheral stalk subunit F6 ISO ClinVar Annotator: match by term: Alzheimer disease, early-onset, with cerebral amyloid angiopathy ClinVar PMID:16369530 PMID:19047566 NCBI chr31:21,207,080...21,212,220
Ensembl chr31:21,200,337...21,215,975 		JBrowse link
G CYYR1 cysteine and tyrosine rich 1 ISO ClinVar Annotator: match by term: Alzheimer disease, early-onset, with cerebral amyloid angiopathy ClinVar PMID:16369530 PMID:19047566 NCBI chr31:21,855,863...21,960,188
Ensembl chr31:21,860,027...21,960,103 		JBrowse link
G GABPA GA binding protein transcription factor subunit alpha ISO ClinVar Annotator: match by term: Alzheimer disease, early-onset, with cerebral amyloid angiopathy ClinVar PMID:16369530 PMID:19047566 NCBI chr31:21,216,931...21,251,658
Ensembl chr31:21,216,710...21,248,792 		JBrowse link
G JAM2 junctional adhesion molecule 2 ISO ClinVar Annotator: match by term: Alzheimer disease, early-onset, with cerebral amyloid angiopathy ClinVar PMID:16369530 PMID:19047566 NCBI chr31:21,137,378...21,198,278
Ensembl chr31:21,137,363...21,197,668 		JBrowse link
G MIR155 microRNA mir-155 ISO ClinVar Annotator: match by term: Alzheimer disease, early-onset, with cerebral amyloid angiopathy ClinVar PMID:16369530 PMID:19047566 NCBI chr31:21,078,768...21,078,828
Ensembl chr31:21,078,758...21,078,833 		JBrowse link
G MRPL39 mitochondrial ribosomal protein L39 ISO ClinVar Annotator: match by term: Alzheimer disease, early-onset, with cerebral amyloid angiopathy ClinVar PMID:16369530 PMID:19047566 NCBI chr31:21,089,747...21,110,975
Ensembl chr31:21,084,428...21,110,946 		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 PMID:27930341 PMID:28492532 PMID:34776449 More... NCBI chr 8:46,495,551...46,569,532
Ensembl chr 8:46,495,624...46,569,532 		JBrowse link
Alzheimer's Disease, Familial, 3, with Spastic Paraparesis and Apraxia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APOE apolipoprotein E ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:110,525,717...110,528,534
Ensembl chr 1:110,525,722...110,528,440 		JBrowse link
G PSEN1 presenilin 1 ISO ClinVar Annotator: match by term: Alzheimer disease, familial, 3, with spastic paraparesis and apraxia ClinVar PMID:11920851 PMID:15534188 PMID:25741868 NCBI chr 8:46,495,551...46,569,532
Ensembl chr 8:46,495,624...46,569,532 		JBrowse link
Alzheimer's Disease, Familial, 3, with Spastic Paraparesis and Unusual Plaques term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PSEN1 presenilin 1 ISO ClinVar Annotator: match by term: Alzheimer disease, familial, 3, with spastic paraparesis and unusual plaques | ClinVar Annotator: match by term: Alzheimer disease, familial, 3, with unusual plaques | ClinVar Annotator: match by term: Alzheimer disease, familial, with spastic paraparesis and unusual plaques ClinVar PMID:7550356 PMID:8733749 PMID:8755489 PMID:9172170 PMID:9546792 More... NCBI chr 8:46,495,551...46,569,532
Ensembl chr 8:46,495,624...46,569,532 		JBrowse link
Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TREML1 triggering receptor expressed on myeloid cells like 1 ISO ClinVar Annotator: match by term: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 OMIM
ClinVar		 PMID:6681564 PMID:12080485 PMID:12754369 PMID:12883936 PMID:12925681 More... NCBI chr12:9,915,692...9,928,322
Ensembl chr12:9,915,677...9,928,174 		JBrowse link
Presenile and Senile Dementia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APOE apolipoprotein E ISO ClinVar Annotator: match by term: Presenile and senile dementia ClinVar PMID:2987927 PMID:3353383 PMID:3922972 PMID:7263700 PMID:8294487 More... NCBI chr 1:110,525,717...110,528,534
Ensembl chr 1:110,525,722...110,528,440 		JBrowse link
G APP amyloid beta precursor protein ISO ClinVar Annotator: match by term: Presenile and senile dementia ClinVar PMID:1303239 PMID:1303275 PMID:1415269 PMID:1679289 PMID:2111584 More... NCBI chr31:21,351,207...21,614,466
Ensembl chr31:21,351,207...21,614,337 		JBrowse link
G HFE homeostatic iron regulator ISO ClinVar Annotator: match by term: Presenile and senile dementia ClinVar PMID:8696333 PMID:8896550 PMID:9162021 PMID:9356458 PMID:9462220 More... NCBI chr35:24,031,479...24,038,922
Ensembl chr35:24,031,387...24,042,413 		JBrowse link
G IL1B interleukin 1 beta ISO RGD PMID:23126199 RGD:7193138 NCBI chr17:37,019,329...37,033,388
Ensembl chr17:37,019,329...37,024,458 		JBrowse link
G PSEN2 presenilin 2 ISO ClinVar Annotator: match by term: Presenile and senile dementia ClinVar PMID:14623725 PMID:15663477 PMID:17186461 PMID:17345043 PMID:22503161 More... NCBI chr 7:38,147,157...38,163,023
Ensembl chr 7:38,147,173...38,166,722 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17773
    Diseases of the Aged 1246
      dementia 852
        Alzheimer's disease 484
          Alzheimer's Disease, Early-Onset, with Cerebral Amyloid Angiopathy 7
          Alzheimer's Disease, Familial Early-Onset, with Coexisting Amyloid and Prion Pathology 0
          Alzheimer's disease 1 5
          Alzheimer's disease 10 0
          Alzheimer's disease 11 0
          Alzheimer's disease 12 0
          Alzheimer's disease 13 0
          Alzheimer's disease 14 0
          Alzheimer's disease 15 0
          Alzheimer's disease 16 0
          Alzheimer's disease 17 0
          Alzheimer's disease 18 1
          Alzheimer's disease 19 1
          Alzheimer's disease 2 1
          Alzheimer's disease 3 + 4
          Alzheimer's disease 4 3
          Alzheimer's disease 5 0
          Alzheimer's disease 6 1
          Alzheimer's disease 7 0
          Alzheimer's disease 8 0
          Alzheimer's disease 9 2
          Lewy Body Variant of Alzheimer's Disease 0
          Presenile and Senile Dementia + 6
Path 2
Term Annotations click to browse term
  disease 17773
    disease of anatomical entity 15151
      nervous system disease 13214
        central nervous system disease 11849
          brain disease 11130
            disease of mental health 8074
              cognitive disorder 2161
                dementia 852
                  Alzheimer's disease 484
                    Alzheimer's Disease, Early-Onset, with Cerebral Amyloid Angiopathy 7
                    Alzheimer's Disease, Familial Early-Onset, with Coexisting Amyloid and Prion Pathology 0
                    Alzheimer's disease 1 5
                    Alzheimer's disease 10 0
                    Alzheimer's disease 11 0
                    Alzheimer's disease 12 0
                    Alzheimer's disease 13 0
                    Alzheimer's disease 14 0
                    Alzheimer's disease 15 0
                    Alzheimer's disease 16 0
                    Alzheimer's disease 17 0
                    Alzheimer's disease 18 1
                    Alzheimer's disease 19 1
                    Alzheimer's disease 2 1
                    Alzheimer's disease 3 + 4
                    Alzheimer's disease 4 3
                    Alzheimer's disease 5 0
                    Alzheimer's disease 6 1
                    Alzheimer's disease 7 0
                    Alzheimer's disease 8 0
                    Alzheimer's disease 9 2
                    Lewy Body Variant of Alzheimer's Disease 0
                    Presenile and Senile Dementia + 6
paths to the root