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RGD DISEASE ONTOLOGY - ANNOTATIONS

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

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



show annotations for term's descendants           Sort by:
 
tauopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDK5 cyclin dependent kinase 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26945731 NCBI chr18:6,166,914...6,171,157 JBrowse link
G GSK3B glycogen synthase kinase 3 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:26945731 NCBI chr13:140,136,109...140,370,197
Ensembl chr13:140,136,158...140,369,574
JBrowse link
G HDAC1 histone deacetylase 1 ISO protein:increased expression:brain: RGD PMID:22918830 RGD:9590098 NCBI chr 6:88,749,611...88,785,220
Ensembl chr 6:88,749,634...88,785,412
JBrowse link
G MAPT microtubule associated protein tau treatment ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:10604746 PMID:11889249 PMID:14595660 PMID:22874558 PMID:24556215 More... RGD:13800888 RGD:13800905 RGD:8158094 NCBI chr12:17,098,259...17,211,483
Ensembl chr12:17,095,587...17,211,368
JBrowse link
G PECAM1 platelet and endothelial cell adhesion molecule 1 ISO protein:increased expression:brain, blood vessel (mouse) RGD PMID:21839061 RGD:6771210 NCBI chr12:14,667,643...14,723,296
Ensembl chr12:14,582,481...14,723,336
JBrowse link
G PPP2R5D protein phosphatase 2 regulatory subunit B'delta ISO RGD PMID:21482799 RGD:13515115 NCBI chr 7:38,055,589...38,078,429
Ensembl chr 7:38,055,589...38,079,867
JBrowse link
Alzheimer's disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G A2M alpha-2-macroglobulin no_association
onset
ISO DNA:polymorphisms: :multiple
ClinVar Annotator: match by term: ALPHA-2-MACROGLOBULIN POLYMORPHISM
DNA:polymorphism: :p.I1000V (human)
RGD
ClinVar
PMID:1370808 PMID:1717945 PMID:9697696 PMID:9811940 PMID:10319853 More... RGD:10046014 RGD:10046015 RGD:10046016 RGD:1300322 NCBI chr 5:62,406,928...62,483,690
Ensembl chr 5:62,438,017...62,485,537
JBrowse link
G ABAT 4-aminobutyrate aminotransferase ISO RGD PMID:1627256 RGD:10046060 NCBI chr 3:33,913,068...33,960,804
Ensembl chr 3:33,908,965...34,015,469
JBrowse link
G ABCA1 ATP binding cassette subfamily A member 1 ISO RGD PMID:15024730 RGD:1300323 NCBI chr 1:246,144,277...246,278,492
Ensembl chr 1:246,144,277...246,278,492
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 chr 2:77,357,161...77,375,349
Ensembl chr 2:77,357,211...77,375,180
JBrowse link
G ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1 ISO RGD PMID:25991605 RGD:13801010 NCBI chr 9:93,049,955...93,146,469 JBrowse link
G ABCC1 ATP binding cassette subfamily C member 1 ISO RGD PMID:25991605 RGD:13801010 NCBI chr 3:28,360,868...28,472,940
Ensembl chr 3:28,360,868...28,485,477
JBrowse link
G ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase ISO protein:increased expression:brain: RGD PMID:19700222 RGD:8693570 NCBI chr 1:270,761,641...270,906,708
Ensembl chr 1:270,761,668...270,906,711
JBrowse link
G ACADVL acyl-CoA dehydrogenase very long chain ISO protein:decreased expression:brain RGD PMID:25260493 RGD:10047114 NCBI chr12:52,573,521...52,581,755
Ensembl chr12:52,576,401...52,581,755
JBrowse link
G ACE angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:9916793 PMID:10643899 PMID:14872014 PMID:17192785 PMID:19080340 More... RGD:2325232 NCBI chr12:15,394,487...15,414,609
Ensembl chr12:15,394,487...15,414,639
JBrowse link
G ACHE acetylcholinesterase ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:16581404 PMID:22944069 PMID:23047022 RGD:5509844 NCBI chr 3:8,732,451...8,738,274
Ensembl chr 3:8,732,324...8,739,149
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 chr 1:113,289,480...113,407,940
Ensembl chr 1:113,289,197...113,413,569
JBrowse link
G ADAM17 ADAM metallopeptidase domain 17 onset ISO DNA:missense mutation: :p.R215I (rs142946965) (human)
protein:decreased expression:cerebral cortex, hippocampus
RGD PMID:24792732 PMID:29988083 RGD:13703037 RGD:13782143 NCBI chr 3:126,795,513...126,853,995
Ensembl chr 3:126,795,426...126,853,995
JBrowse link
G ADAM2 ADAM metallopeptidase domain 2 ISO protein:increased expression:brain RGD PMID:10686596 RGD:10047127 NCBI chr15:47,207,727...47,278,315
Ensembl chr15:47,207,722...47,278,315
JBrowse link
G ADAM9 ADAM metallopeptidase domain 9 ISO protein:decreased expression:hippocampus RGD PMID:24792732 RGD:13703037 NCBI chr15:47,523,768...47,601,722
Ensembl chr15:47,523,211...47,601,710
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 chr13:190,277,175...190,285,957
Ensembl chr13:190,276,424...190,286,205
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 chr13:190,353,019...190,413,110
Ensembl chr13:190,361,449...190,412,949
JBrowse link
G ADIPOQ adiponectin, C1Q and collagen domain containing ISO protein:increased expression:cerebrospinal fluid, plasma
protein:increased expression:plasma
RGD PMID:20727007 PMID:22213409 RGD:5686377 RGD:5686881 NCBI chr13:124,633,906...124,646,237
Ensembl chr13:124,633,684...124,646,648
JBrowse link
G ADNP activity dependent neuroprotector homeobox ISO RGD PMID:17720885 PMID:18199809 RGD:2312791 RGD:2312792 NCBI chr17:52,316,388...52,350,732
Ensembl chr17:52,317,669...52,350,757
JBrowse link
G ADRA1A adrenoceptor alpha 1A susceptibility ISO RGD PMID:114750 RGD:5688374 NCBI chr14:10,623,391...10,733,378
Ensembl chr14:10,626,293...10,733,069
JBrowse link
G ADRB3 adrenoceptor beta 3 ISO DNA:missense mutation:cds:p.W64R (human) RGD PMID:17440948 RGD:2311642 NCBI chr15:48,468,803...48,478,370 JBrowse link
G AGER advanced glycosylation end-product specific receptor treatment ISO protein:increased expression:hippocampus (rat)
protein:increased expression:brain (human)
mRNA:increased expression:hippocampus, cerebral cortex (mouse)
RGD PMID:8751438 PMID:21593432 PMID:22745485 PMID:23164356 PMID:23396166 RGD:1300365 RGD:6784502 RGD:7244266 RGD:7244287 RGD:7245965 NCBI chr 7:24,218,116...24,221,162
Ensembl chr 7:24,218,116...24,228,756
JBrowse link
G AGT angiotensinogen ISO protein:increased expression:cerebrospinal fluid RGD PMID:21297254 RGD:5129180 NCBI chr14:59,643,030...59,656,835
Ensembl chr14:59,643,292...59,672,428
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 chr13:88,934,873...88,980,317
Ensembl chr13:88,934,868...88,983,131
JBrowse link
G AIF1 allograft inflammatory factor 1 ISO mRNA:increased expression:frontal cortex (human)
protein:altered expression:hippocampus (mouse)
RGD PMID:16340083 PMID:19084047 RGD:2313023 RGD:2313045 NCBI chr 7:23,711,752...23,731,191
Ensembl chr 7:23,711,722...23,731,671
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:106,676,596...106,708,290
Ensembl chr  X:106,670,519...106,708,317
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 7:88,538,938...88,544,330
Ensembl chr 7:88,538,983...88,547,394
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 6:77,754,172...77,761,609
Ensembl chr 6:77,754,173...77,761,667
JBrowse link
G AKT1 AKT serine/threonine kinase 1 ISO protein:increased tyrosine phosphorylation:cerebral cortex RGD PMID:18023354 RGD:5509085
G ALDH2 aldehyde dehydrogenase 2 family member onset ISO RGD PMID:15126281 RGD:1599042 NCBI chr14:39,902,317...39,933,113
Ensembl chr14:39,896,565...39,933,124
JBrowse link
G ALOX15 arachidonate 15-lipoxygenase ISO protein:increased expression:brain RGD PMID:15111312 RGD:5509620 NCBI chr12:52,287,174...52,295,873
Ensembl chr12:52,286,019...52,414,907
JBrowse link
G AMBRA1 autophagy and beclin 1 regulator 1 ISO RGD PMID:23910655 RGD:14390071 NCBI chr 2:15,935,354...16,119,082
Ensembl chr 2:15,917,698...16,119,082
JBrowse link
G AMFR autocrine motility factor receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:22313999 NCBI chr 6:29,366,812...29,417,800
Ensembl chr 6:29,366,624...29,413,703
JBrowse link
G ANG angiogenin severity ISO protein:decreased expression:serum RGD PMID:22449478 RGD:6892705 NCBI chr 7:78,249,479...78,262,846
Ensembl chr 7:78,243,687...78,262,866
JBrowse link
G ANXA5 annexin A5 ISO protein:increased expression: plasma
protein:increased expression:brain, plasma
RGD PMID:20648654 RGD:7242030 NCBI chr 8:102,387,833...102,420,868
Ensembl chr 8:102,388,103...102,425,750
JBrowse link
G APBB1 amyloid beta precursor protein binding family B member 1 susceptibility
no_association
ISO DNA:deletion:intron:
DNA:polymorphism:intron:
mRNA:altered expression:brain:
DNA:mutations::multiple
RGD PMID:9799084 PMID:10723070 PMID:11099823 PMID:12727304 RGD:10054028 RGD:10054031 RGD:10054036 RGD:2301212 NCBI chr 9:3,303,032...3,323,828
Ensembl chr 9:3,303,019...3,323,828
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 8:31,921,587...32,302,237
Ensembl chr 8:31,921,587...32,301,975
JBrowse link
G APC APC regulator of WNT signaling pathway ISO protein:increased expression:astrocyte RGD PMID:11547943 RGD:6484525 NCBI chr 2:116,913,354...116,985,303
Ensembl chr 2:116,812,582...117,034,912
JBrowse link
G APH1A aph-1 homolog A, gamma-secretase subunit treatment ISO RGD PMID:28588301 PMID:29926633 RGD:13703122 RGD:13703123 NCBI chr 4:98,817,574...98,821,255
Ensembl chr 4:98,817,627...98,925,948
JBrowse link
G APH1B aph-1 homolog B, gamma-secretase subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:33589840 NCBI chr 1:108,549,297...108,763,279
Ensembl chr 1:108,626,872...108,840,142
JBrowse link
G APLP2 amyloid beta precursor like protein 2 ISO RGD PMID:8086458 RGD:734582 NCBI chr 9:56,798,781...56,871,849
Ensembl chr 9:56,798,827...56,872,643
JBrowse link
G APOA1 apolipoprotein A1 resistance ISO DNA: : :transgenic model RGD PMID:19863188 PMID:20847045 RGD:5508212 RGD:5508218 NCBI chr 9:44,216,481...44,218,360
Ensembl chr 9:44,216,393...44,218,978
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 9:44,201,587...44,204,072
Ensembl chr 9:44,201,508...44,204,206
JBrowse link
G APOD apolipoprotein D ISO protein:increased expression:cerebrospinal fluid, hippocampus RGD PMID:9751198 RGD:2311209 NCBI chr13:132,514,546...132,562,594
Ensembl chr13:132,514,949...132,562,599
JBrowse link
G APOE apolipoprotein E susceptibility
treatment
no_association
ISO DNA:SNP: :APOEe4(human)
ClinVar Annotator: match by term: Alzheimer disease, early onset
DNA:missense mutations, haplotype:cds:p.C112R, (rs7412) (human)
DNA:polymorphism:promoter:-491A>T,-427T>C(human)
RGD
ClinVar
PMID:2987927 PMID:3353383 PMID:3922972 PMID:7263700 PMID:8294487 More... RGD:10427727 RGD:12904712 RGD:6903233 RGD:7771594 NCBI chr 6:51,373,113...51,375,333
Ensembl chr 6:51,372,259...51,377,794
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:1303239 PMID:1303275 PMID:1307241 PMID:1415269 PMID:1520398 More... RGD:13782047 RGD:1599199 NCBI chr13:189,434,854...189,716,120
Ensembl chr13:189,434,869...189,716,057
JBrowse link
G AQP4 aquaporin 4 ISO RGD PMID:21107133 RGD:5148012 NCBI chr 6:111,407,632...111,422,169
Ensembl chr 6:111,400,794...111,422,042
JBrowse link
G ARC activity regulated cytoskeleton associated protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:18503570 NCBI chr 4:1,517,986...1,521,403
Ensembl chr 4:1,517,980...1,521,403
JBrowse link
G ASS1 argininosuccinate synthase 1 ISO protein:increased expression:brain, glial cell (human) RGD PMID:11556547 RGD:4139898 NCBI chr 1:270,531,434...270,586,364
Ensembl chr 1:270,531,589...270,586,361
JBrowse link
G ATF2 activating transcription factor 2 ISO RGD PMID:9138733 PMID:15878807 RGD:10047399 RGD:10047400 NCBI chr15:80,984,969...81,076,573
Ensembl chr15:80,984,977...81,091,532
JBrowse link
G ATM ATM serine/threonine kinase disease_progression ISO RGD PMID:23861893 RGD:10047419 NCBI chr 9:36,620,656...36,759,555
Ensembl chr 9:36,620,658...36,759,554
JBrowse link
G ATP5F1A ATP synthase F1 subunit alpha onset
treatment
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 1:95,738,789...95,750,835
Ensembl chr 1:95,625,800...95,750,875
JBrowse link
G ATP5F1D ATP synthase F1 subunit delta ISO RGD PMID:28474567 RGD:13792588 NCBI chr 2:77,216,430...77,219,301
Ensembl chr 2:77,216,433...77,222,749
JBrowse link
G ATP5MG ATP synthase membrane subunit g ISO RGD PMID:28474567 RGD:13792588 NCBI chr 9:45,706,449...45,716,541
Ensembl chr 9:45,661,106...45,720,783
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 chr13:189,281,429...189,290,234
Ensembl chr13:189,278,945...189,290,229
JBrowse link
G ATP5PO ATP synthase peripheral stalk subunit OSCP treatment ISO RGD PMID:30266287 RGD:14696823 NCBI chr13:197,509,331...197,519,530
Ensembl chr13:197,509,325...197,519,589
JBrowse link
G ATP6V0E1 ATPase H+ transporting V0 subunit e1 ISO RGD PMID:23211594 RGD:10401913 NCBI chr16:51,225,719...51,260,712 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:61,972,544...62,110,058
Ensembl chr  X:61,972,874...62,110,058
JBrowse link
G ATR ATR serine/threonine kinase ISO RGD PMID:23861893 RGD:10047419 NCBI chr13:83,175,515...83,289,986
Ensembl chr13:83,174,824...83,289,923
JBrowse link
G BACE1 beta-secretase 1 susceptibility
treatment
ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:12824768 PMID:16407166 PMID:28763060 PMID:29038004 RGD:1358439 RGD:13782077 RGD:13782083 NCBI chr 9:44,640,389...44,665,863
Ensembl chr 9:44,640,392...44,665,835
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 chr13:204,600,740...204,720,215
Ensembl chr13:204,600,735...204,694,836
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 chr 2:7,831,192...7,842,864
Ensembl chr 2:7,830,920...7,842,863
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 chr12:1,609,420...1,666,965
Ensembl chr12:1,603,538...1,670,076
JBrowse link
G BAK1 BCL2 antagonist/killer 1 ISO protein:increased expression:temporal cortex, membrane RGD PMID:9507158 RGD:10053642 NCBI chr 7:29,808,849...29,815,345 JBrowse link
G BARHL1 BarH like homeobox 1 ISO protein:decreased expression:brain RGD PMID:28956815 RGD:14390165 NCBI chr 1:272,373,125...272,380,223
Ensembl chr 1:272,373,571...272,381,441
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 6:54,222,341...54,228,150
Ensembl chr 6:54,187,260...54,228,144
JBrowse link
G BCAN brevican ISO protein:altered modification:brain RGD PMID:20180882 RGD:14392785 NCBI chr 4:93,432,331...93,450,895
Ensembl chr 4:93,432,335...93,450,827
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 chr13:104,946,732...105,007,568 JBrowse link
G BCL2L1 BCL2 like 1 ISO protein:increased expression:temporal cortex, membrane RGD PMID:9507158 RGD:10053642 NCBI chr17:35,366,139...35,415,798
Ensembl chr17:35,366,141...35,415,359
JBrowse link
G BDNF brain derived neurotrophic factor no_association
onset
treatment
ISO protein:decreased expression:parietal cortex
DNA:polymorphisms: :196G>A (p.V66M), 270C>T (human)
DNA:SNP:CDS:rs1048218 (human)
CTD Direct Evidence: marker/mechanism
DNA:polymorphism: :p.V66M (human)
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 chr 2:32,623,668...32,679,293
Ensembl chr 2:32,623,268...32,679,164
JBrowse link
G BECN1 beclin 1 ISO protein:decreased expression:gray matter RGD PMID:18497889 PMID:20863706 RGD:6483101 RGD:6483102 NCBI chr12:20,041,914...20,054,249
Ensembl chr12:20,041,956...20,054,373
JBrowse link
G BIN1 bridging integrator 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21460841 PMID:33589840 NCBI chr15:25,328,679...25,379,675
Ensembl chr15:25,328,674...25,383,652
JBrowse link
G BMP4 bone morphogenetic protein 4 ISO RGD PMID:19463786 RGD:10414082 NCBI chr 1:183,415,989...183,422,888
Ensembl chr 1:183,416,134...183,792,417
JBrowse link
G BPTF bromodomain PHD finger transcription factor ISO protein:increased expression:microglia: RGD PMID:9792236 RGD:9586059 NCBI chr12:14,112,943...14,254,810
Ensembl chr12:14,112,643...14,255,408
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 chr12:36,498,138...36,639,847
Ensembl chr12:36,443,697...36,634,088
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 chr13:182,209,850...182,228,626
Ensembl chr13:182,208,958...182,227,971
JBrowse link
G C13H21orf91 chromosome 13 C21orf91 homolog ISO ClinVar Annotator: match by term: Alzheimer disease ClinVar PMID:16369530 PMID:16921174 PMID:24691562 NCBI chr13:182,374,587...182,409,062
Ensembl chr13:182,374,584...182,409,472
JBrowse link
G C1QB complement C1q B chain ISO mRNA:increased expression:microglial cell RGD PMID:1362796 RGD:1599518 NCBI chr 6:80,601,680...80,606,076
Ensembl chr 6:80,601,665...80,607,471
JBrowse link
G C2 complement C2 ISO DNA:SNP, haplotype: :p.E318D (rs9332739) (human) RGD PMID:22300950 RGD:7401250 NCBI chr 7:24,020,590...24,034,042
Ensembl chr 7:23,995,982...24,034,040
JBrowse link
G C3 complement C3 ISO DNA:SNP: :rs22300199 (human) RGD PMID:22300950 RGD:7401250 NCBI chr 2:72,431,470...72,471,622
Ensembl chr 2:72,431,499...72,528,112
JBrowse link
G C5AR1 complement C5a receptor 1 ISO protein:decreased expression:brain RGD PMID:12759460 RGD:5130177 NCBI chr 6:53,097,162...53,111,563
Ensembl chr 6:53,097,164...53,117,020
JBrowse link
G CACNA1C calcium voltage-gated channel subunit alpha1 C ISO protein:decreased expression:brain RGD PMID:23403102 RGD:13782264 NCBI chr 5:69,016,954...69,448,428 JBrowse link
G CALM1 calmodulin 1 ISO CTD Direct Evidence: marker/mechanism
protein:decreased expression:cerebellar cortex:
CTD
RGD
PMID:11470324 RGD:13792493 NCBI chr 7:112,160,823...112,171,754
Ensembl chr 7:112,154,880...112,171,744
JBrowse link
G CALML5 calmodulin like 5 ISO protein:altered expression:neuron,glia RGD PMID:11470324 RGD:13792493 NCBI chr10:65,405,928...65,407,306
Ensembl chr10:65,406,633...65,407,082
JBrowse link
G CAMK2A calcium/calmodulin dependent protein kinase II alpha ISO RGD PMID:15621017 RGD:13681926 NCBI chr 2:151,248,356...151,353,907
Ensembl chr 2:151,248,356...151,308,658
JBrowse link
G CAPN1 calpain 1 onset ISO protein:increased activity:brain: RGD PMID:8622780 PMID:11231011 RGD:13792495 RGD:13792663 NCBI chr 2:6,997,513...7,024,410
Ensembl chr 2:6,997,516...7,081,432
JBrowse link
G CAPN2 calpain 2 ISO protein:increased expression:cytosol RGD PMID:9654354 RGD:13792661 NCBI chr10:19,758,824...19,820,241
Ensembl chr10:19,758,762...19,851,989
JBrowse link
G CASP1 caspase 1, apoptosis-related cysteine peptidase ISO RGD PMID:12633148 RGD:13782269 NCBI chr 9:35,188,066...35,199,364
Ensembl chr 9:35,186,420...35,200,328
JBrowse link
G CASP2 caspase 2 ISO RGD PMID:12633148 RGD:13782269 NCBI chr18:6,946,432...6,966,088
Ensembl chr18:6,902,542...6,966,092
JBrowse link
G CASP3 caspase 3 treatment ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:10319819 PMID:12633148 PMID:18077176 PMID:29587274 PMID:29642617 More... RGD:13782186 RGD:13782188 RGD:13782269 RGD:13782291 RGD:734692 NCBI chr15:45,744,320...45,753,252
Ensembl chr15:45,742,749...45,763,773
JBrowse link
G CASP6 caspase 6 ISO RGD PMID:12633148 RGD:13782269 NCBI chr 8:112,519,450...112,534,315
Ensembl chr 8:112,483,392...112,540,550
JBrowse link
G CASP7 caspase 7 ISO DNA:SNPs, haplotype RGD PMID:12633148 PMID:26621834 RGD:11344490 RGD:13782269 NCBI chr14:124,017,776...124,050,369
Ensembl chr14:124,018,568...124,050,366
JBrowse link
G CASP8 caspase 8 treatment ISO RGD PMID:12633148 PMID:16772874 PMID:29642617 RGD:13782268 RGD:13782269 RGD:13782291 NCBI chr15:104,923,659...104,948,470
Ensembl chr15:104,923,953...104,948,470
JBrowse link
G CASP9 caspase 9 treatment ISO RGD PMID:12633148 PMID:29777699 RGD:13782186 RGD:13782269 NCBI chr 6:74,707,597...74,730,033
Ensembl chr 6:74,706,515...74,730,092
JBrowse link
G CASS4 Cas scaffold protein family member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30320580 PMID:33589840 NCBI chr17:56,990,774...57,032,306
Ensembl chr17:56,991,161...57,034,470
JBrowse link
G CAST calpastatin ISO protein:decreased expression:brain RGD PMID:19020018 PMID:20595388 RGD:5509799 RGD:5509809 NCBI chr 2:103,255,738...103,378,623
Ensembl chr 2:103,255,630...103,378,623
JBrowse link
G CCDC6 coiled-coil domain containing 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:33589840 NCBI chr14:63,175,650...63,300,025
Ensembl chr14:63,175,655...63,299,494
JBrowse link
G CCL5 C-C motif chemokine ligand 5 ISO mRNA:increased expression:cerebrum, blood vessels (human) RGD PMID:18440671 RGD:4890025 NCBI chr12:39,652,731...39,659,121
Ensembl chr12:39,648,598...39,659,118
JBrowse link
G CCNG1 cyclin G1 ISO protein:increased expression:brain, neuron RGD PMID:12214116 RGD:2316025 NCBI chr16:60,349,255...60,356,737
Ensembl chr16:60,349,254...60,356,738
JBrowse link
G CCR1 C-C motif chemokine receptor 1 severity ISO RGD PMID:14595653 RGD:5688166 NCBI chr13:29,227,218...29,233,862
Ensembl chr13:29,227,220...29,233,960
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 chr13:29,382,383...29,387,902
Ensembl chr13:29,383,303...29,387,902
JBrowse link
G CD2AP CD2 associated protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:21460840 PMID:21460841 PMID:30320580 NCBI chr 7:42,218,016...42,332,523
Ensembl chr 7:42,217,588...42,332,518
JBrowse link
G CD36 CD36 molecule ISO RGD PMID:16563568 RGD:6893531 NCBI chr 9:99,685,748...99,782,296
Ensembl chr 9:99,605,181...99,782,105
JBrowse link
G CD40 CD40 molecule ISO RGD PMID:21414686 RGD:5490302 NCBI chr17:48,286,116...48,298,188
Ensembl chr17:48,286,029...48,298,528
JBrowse link
G CD40LG CD40 ligand ISO protein:increased expression:frontal cortex, astrocyte RGD PMID:11755016 RGD:8547803 NCBI chr  X:111,778,666...111,788,901
Ensembl chr  X:111,778,493...111,789,711
JBrowse link
G CDC42 cell division cycle 42 ISO RGD PMID:10817927 RGD:5688277 NCBI chr 6:80,035,034...80,089,243
Ensembl chr 6:80,035,122...80,089,233
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 chr18:6,166,914...6,171,157 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 chr12:42,456,063...42,494,494
Ensembl chr12:42,493,321...42,494,659
JBrowse link
G CDK7 cyclin dependent kinase 7 ISO protein:increased expression:neuron: RGD PMID:11124424 RGD:10059352 NCBI chr16:47,410,136...47,445,795
Ensembl chr16:47,410,144...47,449,356
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 6:43,083,200...43,085,884
Ensembl chr 6:43,083,203...43,085,836
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 chr17:51,722,633...51,723,673
Ensembl chr17:51,722,426...51,724,305
JBrowse link
G CFP complement factor properdin ISO RGD PMID:20126313 RGD:7488914 NCBI chr  X:42,157,980...42,174,964
Ensembl chr  X:42,143,805...42,174,939
JBrowse link
G CFTR CF transmembrane conductance regulator ISO protein:decreased expression:hypothalamus RGD PMID:14757935 RGD:11566025 NCBI chr18:28,627,717...28,818,209
Ensembl chr18:28,627,728...28,817,950
JBrowse link
G CHAT choline O-acetyltransferase ISO DNA:polymorphism:CDS:4G>A RGD PMID:12401548 PMID:16834974 RGD:1358495 RGD:1600851 NCBI chr14:90,117,464...90,167,611
Ensembl chr14:90,117,464...90,167,611
JBrowse link
G CHODL chondrolectin ISO ClinVar Annotator: match by term: Alzheimer disease ClinVar PMID:16369530 PMID:16921174 PMID:24691562 NCBI chr13:182,409,113...182,829,797
Ensembl chr13:182,409,183...182,829,807
JBrowse link
G CHRNA4 cholinergic receptor nicotinic alpha 4 subunit ISO RGD PMID:15465084 RGD:1358509 NCBI chr17:62,424,672...62,436,646
Ensembl chr17:62,420,546...62,436,165
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 1:142,803,697...142,937,124
Ensembl chr 1:142,803,698...142,937,788
JBrowse link
G CHRNB2 cholinergic receptor nicotinic beta 2 subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:17192785 NCBI chr 4:95,196,992...95,211,084
Ensembl chr 4:95,198,717...95,211,037
JBrowse link
G CIB1 calcium and integrin binding 1 ISO protein:decreased expression:brain (human) RGD PMID:15885068 RGD:10401854 NCBI chr 7:55,794,834...55,798,666
Ensembl chr 7:55,794,834...55,798,590
JBrowse link
G CLOCK clock circadian regulator susceptibility ISO DNA:snp:3' utr:c.3111T>C (human)
DNA:snp:intron:c.560-1279C>G (rs4580704) (human)
DNA:snp:intron:c.982+247G>C (rs1554483) (human)
RGD PMID:23357097 PMID:23781009 PMID:23912676 RGD:10401861 RGD:10401862 RGD:10401872 NCBI chr 8:54,793,323...54,910,192
Ensembl chr 8:54,788,864...54,910,146
JBrowse link
G CLU clusterin ISO ClinVar Annotator: match by term: Alzheimer disease ClinVar PMID:28492532 PMID:29476165 NCBI chr14:11,336,585...11,352,569
Ensembl chr14:11,336,590...11,352,475
JBrowse link
G CNP 2',3'-cyclic nucleotide 3' phosphodiesterase ISO RGD PMID:21918687 RGD:6483333 NCBI chr12:20,758,081...20,765,655
Ensembl chr12:20,758,081...20,776,868
JBrowse link
G COX7C cytochrome c oxidase subunit 7C ISO RGD PMID:28474567 RGD:13792588 NCBI chr 2:94,345,436...94,347,709
Ensembl chr 2:94,345,438...94,353,027
JBrowse link
G CR1 complement C3b/C4b receptor 1 (Knops blood group) ISO CTD Direct Evidence: marker/mechanism CTD PMID:19734903 PMID:21460841 NCBI chr 9:68,025,673...68,132,162 JBrowse link
G CREBBP CREB binding protein treatment ISO protein:increased phosphorylation:hippocampus: RGD PMID:17760871 PMID:21149712 RGD:10059608 RGD:10059609 NCBI chr 3:38,388,366...38,530,243
Ensembl chr 3:38,388,547...38,530,230
JBrowse link
G CRH corticotropin releasing hormone ISO CTD Direct Evidence: therapeutic
protein:decreased expression:cerebral cortex (human)
CTD
RGD
PMID:7477348 RGD:5508831 NCBI chr 4:68,481,696...68,486,122
Ensembl chr 4:68,483,977...68,486,118
JBrowse link
G CRP C-reactive protein, pentraxin-related ISO RGD PMID:22202667 RGD:6904208 NCBI chr 4:90,793,361...90,801,020
Ensembl chr 4:90,722,352...90,805,236
JBrowse link
G CSF1R colony stimulating factor 1 receptor ISO ClinVar Annotator: match by term: Alzheimer disease ClinVar PMID:30279455 NCBI chr 2:151,102,138...151,130,311
Ensembl chr 2:151,102,138...151,147,634
JBrowse link
G CSNK1A1 casein kinase 1 alpha 1 ISO protein:increased expression:CA1 field of hippocampus: RGD PMID:10514399 RGD:10395229 NCBI chr 2:150,612,845...150,662,431
Ensembl chr 2:150,612,844...150,662,351
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 chr12:768,856...794,495
Ensembl chr12:768,865...796,532
JBrowse link
G CST3 cystatin C susceptibility ISO CTD Direct Evidence: marker/mechanism|therapeutic
protein:increased expression:plasma
protein:decreased expression:serum (human)
CTD
RGD
PMID:15907478 PMID:17192785 PMID:18026100 PMID:18824671 RGD:1358533 RGD:2314333 NCBI chr17:30,471,056...30,474,486
Ensembl chr17:30,470,855...30,474,590
JBrowse link
G CTNNB1 catenin beta 1 treatment ISO protein:decreased expression:hippocampus
protein:decreased expression:nucleus:
protein:increased expression:neuron,cytoplasm:
RGD PMID:11226152 PMID:12610652 PMID:15781969 RGD:10395258 RGD:10395276 RGD:1302533 NCBI chr13:25,163,550...25,208,314
Ensembl chr13:25,137,173...25,208,311
JBrowse link
G CTSD cathepsin D ISO protein:decreased expression:lymphocyte: RGD PMID:11304834 PMID:15907478 RGD:1358532 RGD:1358533 NCBI chr 2:1,188,548...1,197,642
Ensembl chr 2:1,188,549...1,197,635
JBrowse link
G CTSS cathepsin S ISO RGD PMID:7717452 RGD:5686914 NCBI chr 4:98,415,273...98,442,952
Ensembl chr 4:98,390,250...98,442,936
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 chr13:182,134,416...182,185,977
Ensembl chr13:182,134,566...182,193,681
JBrowse link
G CYP19A3 cytochrome P450 19A3 ISO DNA:polymorphism
mRNA:altered expression:cerebellum, hippocampus (human)
RGD PMID:16882736 PMID:18180323 RGD:1600861 RGD:4889108 NCBI chr 1:120,476,890...120,556,103
Ensembl chr 1:120,367,667...120,695,899
JBrowse link
G CYP2D6 cytochrome P450 family 2 subfamily D member 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:7574463 NCBI chr 5:6,539,021...6,543,643
Ensembl chr 5:6,538,907...6,543,643
JBrowse link
G CYP46A1 cytochrome P450 family 46 subfamily A member 1 ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:12232784 PMID:19286353 RGD:1358575 NCBI chr 7:120,658,781...120,695,031
Ensembl chr 7:120,661,111...120,695,019
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 chr13:189,957,606...190,066,660
Ensembl chr13:189,957,606...190,066,539
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 2:80,480,603...80,495,797
Ensembl chr 2:80,479,460...80,496,873
JBrowse link
G DDR1 discoidin domain receptor tyrosine kinase 1 treatment ISO RGD PMID:28863860 RGD:150519888 NCBI chr 7:23,371,358...23,391,585
Ensembl chr 7:23,373,808...23,394,965
JBrowse link
G DHCR24 24-dehydrocholesterol reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23042211 NCBI chr 6:157,483,794...157,519,060
Ensembl chr 6:157,483,783...157,579,161
JBrowse link
G DLG4 discs large MAGUK scaffold protein 4 ISO RGD PMID:24156266 RGD:13792688 NCBI chr12:52,550,138...52,574,021
Ensembl chr12:52,550,141...52,575,156
JBrowse link
G DLST dihydrolipoamide S-succinyltransferase susceptibility ISO DNA:polymorphisms: : RGD PMID:10227647 RGD:1358587 NCBI chr 7:98,091,161...98,111,267
Ensembl chr 7:98,091,123...98,111,572
JBrowse link
G DNM1 dynamin 1 ISO denntate gyrus, hippocampus, entorhinal cortex
mRNA,protein:decreased expression:hippocampus, temporal cortex
protein:decreased expression:hippocampus,entorhinal cortex:
RGD PMID:20847448 RGD:13506238 NCBI chr 1:268,653,045...268,702,233
Ensembl chr 1:268,653,039...268,702,223
JBrowse link
G DPYSL2 dihydropyrimidinase like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19374891 NCBI chr14:10,428,598...10,545,705
Ensembl chr14:10,427,500...10,545,703
JBrowse link
G DRD1 dopamine receptor D1 ISO protein:decreased expression:frontal cortex, neuron RGD PMID:17182012 RGD:5686412 NCBI chr16:49,189,555...49,193,722
Ensembl chr16:49,188,936...49,193,709
JBrowse link
G DRD2 dopamine receptor D2 ISO protein:decreased expression:blood, lymphocyte RGD PMID:11087905 RGD:5686416 NCBI chr 9:41,068,618...41,135,262
Ensembl chr 9:41,068,779...41,133,599
JBrowse link
G DRD3 dopamine receptor D3 ISO protein:decreased expression:frontal cortex, neuron RGD PMID:17182012 RGD:5686412 NCBI chr13:145,769,294...145,817,997
Ensembl chr13:145,771,510...145,819,173
JBrowse link
G DRD4 dopamine receptor D4 ISO protein:decreased expression:frontal cortex, neuron RGD PMID:17182012 RGD:5686412 NCBI chr 2:398,766...401,539
Ensembl chr 2:398,766...401,432
JBrowse link
G DRD5 dopamine receptor D5 ISO protein:increased expression:frontal cortex, neuron RGD PMID:17182012 RGD:5686412 NCBI chr 8:6,180,221...6,182,575
Ensembl chr 8:6,180,221...6,181,636
JBrowse link
G DYNC1H1 dynein cytoplasmic 1 heavy chain 1 ISO protein:increased expression:brain RGD PMID:9402150 RGD:13207349
G E2F1 E2F transcription factor 1 ISO protein:increased expression:cerebral cortex,cytoplasm: RGD PMID:11939591 RGD:10401093 NCBI chr17:37,178,587...37,190,118
Ensembl chr17:37,178,598...37,189,841
JBrowse link
G ECE1 endothelin converting enzyme 1 ISO RGD PMID:15340356 RGD:1580902 NCBI chr 6:79,408,322...79,465,827
Ensembl chr 6:79,408,328...79,466,106
JBrowse link
G EEF1A2 eukaryotic translation elongation factor 1 alpha 2 ISO protein:increased expression:CA1field of hippocampus: RGD PMID:8750861 RGD:10401216 NCBI chr17:62,517,811...62,526,379
Ensembl chr17:62,517,503...62,526,384
JBrowse link
G EEF2 eukaryotic translation elongation factor 2 ISO protein:hyperphosphorylation:brain: RGD PMID:1331687 RGD:10401652 NCBI chr 2:74,746,541...74,756,687
Ensembl chr 2:74,747,080...74,756,680
JBrowse link
G EEF2K eukaryotic elongation factor 2 kinase ISO RGD PMID:16098202 RGD:10401651 NCBI chr 3:23,887,120...23,980,231
Ensembl chr 3:23,887,125...23,956,373
JBrowse link
G EGF epidermal growth factor ISO protein:decreased expression:platelet RGD PMID:21875409 RGD:10059680 NCBI chr 8:112,235,607...112,330,062
Ensembl chr 8:112,234,365...112,330,046
JBrowse link
G EGFR epidermal growth factor receptor treatment ISO RGD PMID:23019586 RGD:10059684 NCBI chr 9:139,302,410...139,474,632
Ensembl chr 9:139,300,022...139,478,882
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 chr 2:140,440,829...140,445,302
Ensembl chr 2:140,441,421...140,445,296
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 chr 3:103,041,029...103,096,741
Ensembl chr 3:103,041,224...103,096,738
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 7:91,085,025...91,109,835
Ensembl chr 7:91,085,335...91,109,829
JBrowse link
G ENO1 enolase 1 ISO protein:increased S-glutathionylation, decreased activity:inferior parietal cortex
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:17387692 PMID:19374891 RGD:13792613 NCBI chr 6:69,385,879...69,401,664
Ensembl chr 6:69,385,882...69,401,117
JBrowse link
G EP300 E1A binding protein p300 ISO mRNA:increased expression:temporal cortex (human) RGD PMID:23585551 RGD:7327146 NCBI chr 5:7,311,165...7,394,515
Ensembl chr 5:7,311,171...7,393,760
JBrowse link
G EPHA1 EPH receptor A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21460840 PMID:21460841 NCBI chr18:6,843,305...6,860,976
Ensembl chr18:6,843,299...6,860,991
JBrowse link
G EPHA4 EPH receptor A4 ISO protein:decreased expression:hippocampus RGD PMID:19542617 RGD:6218956 NCBI chr15:123,350,867...123,501,872
Ensembl chr15:123,352,813...123,503,126
JBrowse link
G EPHB2 EPH receptor B2 ameliorates ISO RGD PMID:21113149 RGD:12859080 NCBI chr 6:80,649,098...80,849,979
Ensembl chr 6:80,649,143...80,843,567
JBrowse link
G EPHX1 epoxide hydrolase 1 ISO protein:increased expression:hippocampus RGD PMID:16630050 RGD:5688388 NCBI chr10:13,757,489...13,773,071
Ensembl chr10:13,735,170...13,773,071
JBrowse link
G EPO erythropoietin treatment ISO RGD PMID:22004348 PMID:23813967 RGD:10395389 RGD:10400882 NCBI chr 3:8,620,508...8,622,936
Ensembl chr 3:8,620,508...8,622,936
JBrowse link
G EPOR erythropoietin receptor ISO protein:increased expression:brain, astrocyte RGD PMID:17483696 RGD:10395387 NCBI chr 2:70,063,601...70,068,821
Ensembl chr 2:70,063,515...70,068,821
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 6:51,734,318...51,757,508
Ensembl chr 6:51,734,319...51,779,624
JBrowse link
G ERCC3 ERCC excision repair 3, TFIIH core complex helicase subunit ISO protein:increased expression:brain RGD PMID:9714461 RGD:5688738 NCBI chr15:25,189,644...25,224,381
Ensembl chr15:25,189,663...25,228,066
JBrowse link
G ESR1 estrogen receptor 1 ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:10558867 PMID:17192785 RGD:1358612 NCBI chr 1:14,217,032...14,604,906
Ensembl chr 1:14,217,036...14,493,363
JBrowse link
G ESR2 estrogen receptor 2 susceptibility ISO DNA:snps:introns:IVS3-1880C>T, IVS4+1231C>T (rs1271573, rs1256043) (human)
DNA:SNPs:3' utr: (rs4986938), (rs1255953) (human)
mRNA:increased expression:cerebral cortex
protein:decreased expression:choroid plexus
RGD PMID:15082146 PMID:15916731 PMID:15944651 PMID:17132983 RGD:5508768 RGD:5508772 RGD:5508784 RGD:8693346 NCBI chr 1:193,823,666...193,907,330
Ensembl chr 1:193,722,164...193,906,565
JBrowse link
G F2 coagulation factor II, thrombin ISO CTD Direct Evidence: marker/mechanism CTD PMID:8333868 NCBI chr 2:15,793,257...15,819,151
Ensembl chr 2:15,791,451...15,819,138
JBrowse link
G FABP3 fatty acid binding protein 3 ISO protein:decreased expression:cerebral cortex (human) RGD PMID:15068254 RGD:1578460 NCBI chr 6:87,943,003...87,950,708
Ensembl chr 6:87,942,790...87,951,610
JBrowse link
G FADD Fas associated via death domain ISO RGD PMID:16085017 RGD:13782385 NCBI chr 2:3,191,718...3,194,820
Ensembl chr 2:3,186,744...3,194,792
JBrowse link
G FAS Fas cell surface death receptor ISO DNA:snp:promoter:g.-670G>A (human)
protein:increased expression:brain, plaque (human)
RGD PMID:11129341 PMID:12742739 RGD:1358615 RGD:8663481 NCBI chr14:100,927,305...100,954,781 JBrowse link
G FGD4 FYVE, RhoGEF and PH domain containing 4 ISO protein:decreased expression:hippocampus (human) RGD PMID:19605646 RGD:7800727 NCBI chr 5:41,571,054...41,636,058 JBrowse link
G FGF1 fibroblast growth factor 1 ISO RGD PMID:20079650 RGD:5509878 NCBI chr 2:144,133,846...144,241,345
Ensembl chr 2:144,133,390...144,241,323
JBrowse link
G FGFR1 fibroblast growth factor receptor 1 ISO RGD PMID:9748519 RGD:10402073 NCBI chr15:48,053,895...48,106,634
Ensembl chr15:48,053,340...48,106,746
JBrowse link
G FIS1 fission, mitochondrial 1 ISO protein:increased expression:hippocampus (human) RGD PMID:19605646 RGD:7800727 NCBI chr 3:8,938,250...8,942,102
Ensembl chr 3:8,931,104...8,941,865
JBrowse link
G FOXO3 forkhead box O3 ISO protein:altered expression:cortical neuron,nucleus:
protein:increased expression:hippocampal neuron (mouse)
mRNA:increased expression:brain:
protein:increased expression:lymphoblast,nucleus:
RGD PMID:23153928 PMID:23585551 PMID:23661003 PMID:28157684 RGD:10402185 RGD:10402187 RGD:11061905 RGD:7327146 NCBI chr 1:74,626,673...74,760,323
Ensembl chr 1:74,628,217...74,760,328
JBrowse link
G FXYD6 FXYD domain containing ion transport regulator 6 ISO RGD PMID:19760337 RGD:13801191 NCBI chr 9:45,182,396...45,218,249 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 chr 1:77,584,675...77,810,605
Ensembl chr 1:77,585,439...77,810,581
JBrowse link
G GABPA GA binding protein transcription factor subunit alpha ISO ClinVar Annotator: match by term: Alzheimer disease ClinVar PMID:16369530 PMID:16921174 PMID:24691562 PMID:25741868 NCBI chr13:189,289,513...189,327,501
Ensembl chr13:189,278,149...189,327,500
JBrowse link
G GAPDH glyceraldehyde-3-phosphate dehydrogenase susceptibility
onset
ISO protein:decreased activity:cerebral cortex, hippocampus
protein:increased S-glutathionylation, decreased activity:inferior parietal cortex
DNA:SNP:5' utr:rs3741916 (human)
protein:decreased activity:cerebral cortex, cerebellum
DNA:SNPs, haplotypes: :rs740850, rs1060620 (human)
DNA:snps:5' utr, intron: (rs3741916, rs1060621) (human)
RGD PMID:15507493 PMID:17324518 PMID:17387692 PMID:18340469 PMID:20864222 More... RGD:1358618 RGD:13792604 RGD:13792611 RGD:13792612 RGD:13792613 RGD:13792614 NCBI chr 5:64,129,678...64,135,194
Ensembl chr 5:64,129,680...64,133,991
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 6:44,968,965...44,978,992
Ensembl chr 6:44,969,288...44,978,884
JBrowse link
G GCG glucagon ISO RGD PMID:23035082 RGD:10402366 NCBI chr15:68,800,557...68,810,268
Ensembl chr15:68,800,561...68,810,244
JBrowse link
G GDNF glial cell derived neurotrophic factor ISO mRNA, protein:alternate form, decreased expression:brain RGD PMID:22081608 RGD:5688777 NCBI chr16:22,936,602...22,965,929
Ensembl chr16:22,936,601...22,965,886
JBrowse link
G GHRH growth hormone releasing hormone treatment ISO RGD PMID:23211425 RGD:10401233 NCBI chr17:40,386,725...40,398,312
Ensembl chr17:40,387,344...40,397,857
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 chr14:87,968,850...88,005,375
Ensembl chr14:87,968,850...88,005,550
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 9:123,751,551...123,762,575
Ensembl chr 9:123,751,548...123,762,547
JBrowse link
G GNAS GNAS complex locus ISO RGD PMID:8012802 RGD:10401266 NCBI chr17:58,985,580...59,053,022
Ensembl chr17:58,998,981...59,053,021
JBrowse link
G GRID2IP Grid2 interacting protein ISO ClinVar Annotator: match by term: Alzheimer disease, early onset ClinVar PMID:25741868 NCBI chr 3:4,667,282...4,699,821
Ensembl chr 3:4,665,744...4,700,037
JBrowse link
G GRIN1 glutamate ionotropic receptor NMDA type subunit 1 ISO RGD PMID:24156266 RGD:13792688
G GRIN2A glutamate ionotropic receptor NMDA type subunit 2A ISO RGD PMID:24156266 RGD:13792688 NCBI chr 3:32,749,329...33,149,350
Ensembl chr 3:32,752,351...33,143,499
JBrowse link
G GRIN2B glutamate ionotropic receptor NMDA type subunit 2B no_association ISO DNA:SNP, haplotype: :rs1806201 (human)
DNA:SNPs:promoter, exon, 3' utr:-200T>G (rs1019385), 2664C>T (rs1806201), 5072G>T (rs890) (human)
DNA:SNP: :2664C>T (rs1806201) (human)
DNA:SNPs:promoter:-200T>G (rs1019385), -1447T>C, -1497G>A (rs12368476) (human)
DNA:SNP:promoter:-421C>A (rs3764028) (human)
RGD PMID:18303265 PMID:18983893 PMID:24156266 PMID:24292895 RGD:13792688 RGD:13792709 RGD:13792713 RGD:13792714 NCBI chr 5:58,477,862...58,948,735
Ensembl chr 5:58,480,526...58,927,583
JBrowse link
G GRK5 G protein-coupled receptor kinase 5 ISO DNA: deletion: exons 7,8: heterozygote RGD PMID:18522748 RGD:5688375 NCBI chr14:129,113,933...129,351,135
Ensembl chr14:129,113,602...129,347,153
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 chr12:18,893,772...18,900,444
Ensembl chr12:18,893,770...18,900,446
JBrowse link
G GSK3A glycogen synthase kinase 3 alpha treatment ISO RGD PMID:18410522 PMID:22623685 RGD:10401797 RGD:10401801 NCBI chr 6:49,690,319...49,700,735
Ensembl chr 6:49,690,370...49,700,735
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 chr13:140,136,109...140,370,197
Ensembl chr13:140,136,158...140,369,574
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 chr15:54,382,564...54,433,989
Ensembl chr15:54,382,567...54,433,989
JBrowse link
G GSS glutathione synthetase ISO RGD PMID:15693022 RGD:5508441 NCBI chr17:38,316,199...38,342,253
Ensembl chr17:38,312,720...38,342,304
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 4:110,330,027...110,332,957
Ensembl chr 4:110,330,028...110,332,962
JBrowse link
G GSTO1 glutathione S-transferase omega 1 susceptibility
onset
no_association
ISO DNA:polymorphism:exon:p. A140D (rs4925) (human) RGD PMID:14570706 PMID:15917099 PMID:20818931 RGD:1358651 RGD:5490514 RGD:5490521 NCBI chr14:115,206,434...115,216,624
Ensembl chr14:115,206,188...115,216,613
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 chr14:115,218,179...115,242,377
Ensembl chr14:115,217,879...115,251,467
JBrowse link
G GUCY1B1 guanylate cyclase 1 soluble subunit beta 1 ISO RGD PMID:15571982 RGD:10401946 NCBI chr 8:44,544,364...44,604,690
Ensembl chr 8:44,544,179...44,604,704
JBrowse link
G HADHA hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha ISO protein:decreased expression:brain RGD PMID:25260493 RGD:10047114 NCBI chr 3:112,753,343...112,797,627
Ensembl chr 3:112,752,865...112,797,735
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 chr 3:112,712,894...112,753,121
Ensembl chr 3:112,704,023...112,753,086
JBrowse link
G HDAC2 histone deacetylase 2 ISO protein:increased expression:hippocampus: RGD PMID:22388814 RGD:9590324 NCBI chr 1:79,867,713...79,901,597
Ensembl chr 1:79,863,094...79,901,585
JBrowse link
G HFE homeostatic iron regulator ISO ClinVar Annotator: match by term: Alzheimer disease | ClinVar Annotator: match by term: Alzheimer's disease ClinVar PMID:678784 PMID:8696333 PMID:8896549 PMID:8896550 PMID:8931958 More... NCBI chr 7:20,758,604...20,767,004
Ensembl chr 7:20,758,741...20,768,741
JBrowse link
G HIF1A hypoxia inducible factor 1 subunit alpha ISO protein:increased expression:brain, microvessel (mouse)
mRNA, protein:increased expression:cerebral cortex, microvessel (human)
RGD PMID:16627934 PMID:21904637 RGD:9068875 RGD:9068888 NCBI chr 1:190,625,436...190,673,926
Ensembl chr 1:190,625,181...190,674,850
JBrowse link
G HMGB1 high mobility group box 1 ISO RGD PMID:23905994 RGD:10402058 NCBI chr11:7,195,556...7,321,071 JBrowse link
G HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase ISO RGD PMID:17724290 RGD:5508460 NCBI chr 2:84,380,245...84,401,117
Ensembl chr 2:84,380,225...84,402,956
JBrowse link
G HMOX1 heme oxygenase 1 ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:hippocampus, temporal cortex (human)
CTD
RGD
PMID:7778849 PMID:11144356 RGD:1358658
G HNRNPA1 heterogeneous nuclear ribonucleoprotein A1 ISO protein:decreased expression:entorhinal cortex (human) RGD PMID:22628224 RGD:9999191 NCBI chr 5:19,485,033...19,491,418
Ensembl chr 5:19,485,096...19,491,419
JBrowse link
G HNRNPA2B1 heterogeneous nuclear ribonucleoprotein A2/B1 ISO protein:decreased expression:entorhinal cortex (human) RGD PMID:22628224 RGD:9999191 NCBI chr18:46,205,164...46,215,861
Ensembl chr18:46,205,418...46,215,858
JBrowse link
G HRAS HRas proto-oncogene, GTPase ISO protein:increased expression:brain, neuron (human) RGD PMID:10661494 RGD:10412306 NCBI chr 2:299,662...302,539
Ensembl chr 2:299,660...302,501
JBrowse link
G HSD17B10 hydroxysteroid 17-beta dehydrogenase 10 treatment ISO protein:increased expression:brain (human)
protein:increased expression:hippocampus, neuron, mitochondria
RGD PMID:9338779 PMID:11869808 PMID:21307267 RGD:1358426 RGD:13792781 RGD:632866 NCBI chr  X:46,218,540...46,220,942
Ensembl chr  X:46,218,545...46,220,944
JBrowse link
G HSD17B3 hydroxysteroid 17-beta dehydrogenase 3 ISO mRNA:altered expression:cerebellum, hippocampus (human) RGD PMID:18180323 RGD:4889108 NCBI chr10:25,822,913...25,866,871
Ensembl chr10:25,822,913...25,866,871
JBrowse link
G HSF1 heat shock transcription factor 1 ISO protein:decreased expression:cerebellum (rat)
protein:altered localization:promoter (mouse)
RGD PMID:23665061 PMID:24849358 RGD:10402385 RGD:10402771 NCBI chr 4:463,531...486,483
Ensembl chr 4:461,559...486,473
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
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 chr13:179,309,746...179,321,297
Ensembl chr13:179,310,703...179,321,205
JBrowse link
G HSPA9 heat shock protein family A (Hsp70) member 9 ISO RGD PMID:17050040 RGD:10402560 NCBI chr 2:140,515,239...140,532,164
Ensembl chr 2:140,515,246...140,531,845
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 3:10,038,074...10,039,441
Ensembl chr 3:10,037,936...10,039,915
JBrowse link
G HSPD1 heat shock protein family D (Hsp60) member 1 ISO protein:increased expression:mitochondrion:
protein:increased modification:brain
protein:increased expression:cytosol, mitochondrion:
RGD PMID:15802185 PMID:22753410 RGD:10402831 RGD:1624243 NCBI chr15:101,360,355...101,373,498
Ensembl chr15:101,360,094...101,373,527
JBrowse link
G HTR1A 5-hydroxytryptamine receptor 1A ISO RGD PMID:20508993 RGD:5683632 NCBI chr16:42,479,812...42,484,365 JBrowse link
G HTR6 5-hydroxytryptamine receptor 6 susceptibility ISO DNA:silent mutation:cds: 267C>T (human) RGD PMID:10624811 RGD:1358662 NCBI chr 6:78,077,358...78,092,211 JBrowse link
G HTRA2 HtrA serine peptidase 2 ISO protein:increased activity:frontal cortex (human) RGD PMID:21163861 RGD:5688722 NCBI chr 3:68,516,666...68,520,025
Ensembl chr 3:68,516,500...68,519,886
JBrowse link
G ICAM1 intercellular adhesion molecule 1 ISO DNA:missense mutation:cds:p.K469E (human) RGD PMID:12498973 RGD:1358664 NCBI chr 2:69,097,136...69,107,722
Ensembl chr 2:69,097,122...69,108,205
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 chr14:103,992,035...104,106,571
Ensembl chr14:103,992,037...104,106,576
JBrowse link
G IGF1 insulin like growth factor 1 onset
treatment
susceptibility
ISO protein:increased expression:serum:
protein:altered expression:plasma,cerebral spinal fluid:
protein:decreased expression:hippocampus:
CTD Direct Evidence: marker/mechanism
DNA:polymorphism:intron: rs972936(human)
RGD
CTD
PMID:10399774 PMID:15750215 PMID:23089282 PMID:23740209 PMID:24054991 More... RGD:10045852 RGD:10045853 RGD:10045854 RGD:10045860 RGD:10402576 NCBI chr 5:81,762,027...81,909,253
Ensembl chr 5:81,775,970...81,848,037
JBrowse link
G IGF1R insulin like growth factor 1 receptor treatment
severity
ISO protein:increased expression:temporal cortex:
DNA: haploinsufficiency:: full knockout dies at birth
protein:increased expression: cerebral cortex:
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:15750215 PMID:16274856 PMID:18479783 PMID:19487308 PMID:20409077 More... RGD:10045878 RGD:10045879 RGD:10045894 RGD:12904921 RGD:5686420 NCBI chr 1:137,383,623...137,691,038
Ensembl chr 1:137,387,925...137,690,666
JBrowse link
G IGF2 insulin like growth factor 2 treatment ISO CTD Direct Evidence: marker/mechanism
mRNA:decreased expression:brain
RGD
CTD
PMID:15750215 PMID:16627931 PMID:21040071 PMID:24685003 PMID:24887203 RGD:10045934 RGD:10402558 RGD:10402559 RGD:5509963 NCBI chr 2:1,469,183...1,496,417 JBrowse link
G IGF2R insulin like growth factor 2 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:15750215 NCBI chr 1:7,369,485...7,472,480
Ensembl chr 1:7,368,103...7,472,548
JBrowse link
G IGFBP2 insulin like growth factor binding protein 2 ISO protein:decreased expression:temporal cortex: RGD PMID:18479783 RGD:10045894 NCBI chr15:118,822,092...118,850,985
Ensembl chr15:118,822,047...118,850,976
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 chr18:50,002,921...50,009,425 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 chr17:11,289,607...11,348,557
Ensembl chr17:11,289,690...11,348,553
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 9:67,400,727...67,405,941
Ensembl chr 9:67,400,727...67,405,711
JBrowse link
G IL1A interleukin 1 alpha disease_progression
susceptibility
no_association
ISO DNA:SNP:5'UTR:rs1800587(human)
protein:increased expression:microglial cell, cortical layer:
RGD PMID:9775393 PMID:10716257 PMID:11402127 PMID:19158434 RGD:10045945 RGD:10045947 RGD:10046059 RGD:1358667 NCBI chr 3:43,718,320...43,731,668
Ensembl chr 3:43,718,368...43,731,119
JBrowse link
G IL2 interleukin 2 severity ISO protein:increased secretion:mononuclear cell: RGD PMID:8586980 PMID:8915041 RGD:10047080 RGD:10047081 NCBI chr 8:101,640,938...101,645,683
Ensembl chr 8:101,640,944...101,645,609
JBrowse link
G IL4 interleukin 4 ISO DNA:polymorphisms:promoter RGD PMID:20213229 RGD:10402788 NCBI chr 2:134,986,817...134,994,365
Ensembl chr 2:134,986,817...134,994,365
JBrowse link
G IL6 interleukin 6 treatment ISO RGD PMID:27088818 RGD:11062148 NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,340...91,511,263
JBrowse link
G IL6R interleukin 6 receptor no_association ISO DNA:SNPs:promoter:-208G>A (rs4845617) (human)
protein:increased expression:cerebrospinal fluid, plasma
DNA:SNPs:promoter, exon:-530G>T, 48867A/>C (p.D358A, rs8192284) (human)
RGD PMID:12664314 PMID:20197062 RGD:10402808 RGD:10402810 NCBI chr 4:95,322,426...95,381,393
Ensembl chr 4:95,322,426...95,381,282
JBrowse link
G IL6ST interleukin 6 cytokine family signal transducer ISO protein:decreased expression:cerebrospinal fluid RGD PMID:10095017 RGD:10402847 NCBI chr16:35,101,304...35,151,832
Ensembl chr16:35,101,304...35,211,982
JBrowse link
G IL7 interleukin 7 ISO RGD PMID:22571981 RGD:10402933 NCBI chr 4:57,677,895...57,744,713
Ensembl chr 4:57,685,069...57,753,797
JBrowse link
G INPP5D inositol polyphosphate-5-phosphatase D ISO CTD Direct Evidence: marker/mechanism CTD PMID:30320580 NCBI chr15:133,501,067...133,626,647
Ensembl chr15:133,501,092...133,626,647
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 chr 2:1,496,842...1,498,052
Ensembl chr 2:1,496,842...1,497,841
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 chr 2:71,797,209...71,939,923
Ensembl chr 2:71,797,204...71,936,139
JBrowse link
G IQCK IQ motif containing K ISO CTD Direct Evidence: marker/mechanism CTD PMID:30820047 NCBI chr 3:25,897,287...26,022,123
Ensembl chr 3:25,897,549...26,022,090
JBrowse link
G IREB2 iron responsive element binding protein 2 ISO DNA:SNPs: :rs2656070, rs13180(human) RGD PMID:16914832 RGD:6893299 NCBI chr 7:47,481,539...47,529,199
Ensembl chr 7:47,479,629...47,529,227
JBrowse link
G IRS1 insulin receptor substrate 1 treatment
severity
ISO protein:decreased expression:hippocampus:
protein:increased expression, increased serine phosphorylation, increased tyrosine phosphorylation:hippocampus CA1
DNA:SNP:cds:rs1801278(human)
protein:increased serine phosphorylation:hippocampus
protein:altered expression:temporal cortex:
RGD PMID:18479783 PMID:22476196 PMID:22476197 PMID:22527777 PMID:23011726 More... RGD:10045894 RGD:10045932 RGD:10045935 RGD:10045939 RGD:10403036 RGD:6482860 RGD:6482861 NCBI chr15:128,245,846...128,307,321
Ensembl chr15:128,245,846...128,308,335
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 chr11:76,626,158...76,654,639
Ensembl chr11:76,626,179...76,653,881
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 chr13:61,068,131...61,398,918
Ensembl chr13:61,068,126...61,398,908
JBrowse link
G JAK2 Janus kinase 2 treatment ISO RGD PMID:18813209 RGD:10403051 NCBI chr 1:216,849,744...217,002,310
Ensembl chr 1:216,848,686...217,002,148
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 chr13:189,199,789...189,275,843
Ensembl chr13:189,165,968...189,275,839
JBrowse link
G KCNC1 potassium voltage-gated channel subfamily C member 1 ISO mRNA, protein:decreased expression:neocortex (mouse) RGD PMID:21912965 RGD:9686062 NCBI chr 2:41,362,208...41,407,935
Ensembl chr 2:41,362,347...41,408,127
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 4:109,885,116...109,908,518
Ensembl chr 4:109,885,116...109,908,476
JBrowse link
G KCNMA1 potassium calcium-activated channel subfamily M alpha 1 onset ISO DNA:SNP: :rs16934131 (human) RGD PMID:21480501 RGD:10412025 NCBI chr14:79,345,382...80,106,337
Ensembl chr14:79,352,396...80,106,258
JBrowse link
G KL klotho treatment ISO mRNA,protein:decreased expression:cerebral choroid,serum: RGD PMID:23973442 RGD:10403049 NCBI chr11:9,427,236...9,479,251
Ensembl chr11:9,427,198...9,478,346
JBrowse link
G KLC1 kinesin light chain 1 susceptibility ISO DNA:SNP:intron:56836G>C (human)
DNA:SNPs: :rs8007903, rs3212079 (human)
RGD PMID:15364413 PMID:19911314 RGD:5683908 RGD:5684007
G KLK6 kallikrein related peptidase 6 ISO RGD PMID:12074831 PMID:12480753 RGD:1358599 RGD:1358604 NCBI chr 6:55,629,983...55,639,215
Ensembl chr 6:55,630,059...55,638,883
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 chr 5:62,506,001...62,523,969
Ensembl chr 5:62,507,507...62,523,810
JBrowse link
G L1CAM L1 cell adhesion molecule ISO protein:increased expression:cerebrospinal fluid (human) RGD PMID:16298234 RGD:6483456 NCBI chr  X:124,595,649...124,618,292
Ensembl chr  X:124,595,651...124,618,307
JBrowse link
G LDLR low density lipoprotein receptor no_association ISO DNA:SNPs:exon (human)
DNA:SNPs:exon:rs5925, rs5927, rs5930 (human)
DNA:SNPs:exon:rs5925, rs5930, rs11669576 (human)
DNA:SNPs: :rs5925, rs2738444, 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 chr 2:69,828,348...69,864,823
Ensembl chr 2:69,828,332...69,864,823
JBrowse link
G LEP leptin treatment ISO associated with Obesity
CTD Direct Evidence: therapeutic
compared to cortisol;protein:altered expression:plasma (human)
RGD
CTD
PMID:9755363 PMID:20157255 PMID:25296496 RGD:10053617 RGD:10053632 NCBI chr18:20,106,867...20,124,071
Ensembl chr18:20,106,868...20,123,447
JBrowse link
G LIPC lipase C, hepatic type no_association ISO DNA:SNPs: :rs6084 (human)
DNA:SNPs: :rs6074, rs6083, rs6084 (human)
RGD PMID:17175070 RGD:1600644 NCBI chr 1:113,433,684...113,604,139
Ensembl chr 1:113,433,679...113,604,306
JBrowse link
G LIPI lipase I ISO ClinVar Annotator: match by term: Alzheimer disease ClinVar PMID:16369530 PMID:16921174 PMID:24691562 NCBI chr13:179,128,549...179,180,612
Ensembl chr13:179,128,928...179,176,215
JBrowse link
G LOC100514951 paired immunoglobulin-like type 2 receptor beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:33589840 NCBI chr 3:8,045,304...8,061,902 JBrowse link
G LOC100523244 casein kinase I ISO protein:increased expression:CA1 field of hippocampus: RGD PMID:10514399 RGD:10395229 NCBI chr 5:9,594,461...9,620,483 JBrowse link
G LOC100621521 ABI gene family member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28714976 NCBI chr12:25,426,116...25,441,309 JBrowse link
G LOC100739163 glutathione S-transferase P-like ISO mRNA:decreased expression:cerebral cortex RGD PMID:23211594 RGD:10401913 NCBI chr 2:4,978,761...4,982,233 JBrowse link
G LOC100739508 glutathione S-transferase P-like susceptibility
onset
ISO DNA:polymorphism:exon:
DNA:polymorphisms
RGD PMID:15805147 PMID:17911365 PMID:24584466 RGD:10401912 RGD:5490123 RGD:5490271 NCBI chr 2:5,005,498...5,009,247 JBrowse link
G LOC110256000 membrane primary amine oxidase-like severity ISO protein:increased expression:plasma RGD PMID:17393059 RGD:2313919 NCBI chr12:19,996,324...20,007,006 JBrowse link
G LOC110258578 interleukin-1 beta-like treatment
onset
no_association
ISO DNA:SNP: :rs1143634 (human)
CTD Direct Evidence: marker/mechanism
DNA:SNP:promoter:-31T>C (human)
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
G LOC110261034 myeloid cell surface antigen CD33-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:21460840 PMID:21460841 NCBI chr 6:55,745,864...55,778,989 JBrowse link
G LPL lipoprotein lipase no_association
severity
ISO DNA:SNPs: :multiple
DNA:point mutations: :p.N291S, p.S447X (human)
DNA:polymorphism:intron
DNA:SNPs: :rs268, rs328 (human)
DNA, mRNA:SNP, decreased expression: :rs285 (human)
RGD PMID:10206232 PMID:12133567 PMID:15331147 PMID:16013913 PMID:16965549 More... RGD:13793392 RGD:13793393 RGD:13793395 RGD:13793396 RGD:13793397 RGD:13799353 RGD:5685661 NCBI chr14:4,104,761...4,134,964
Ensembl chr14:4,104,772...4,135,814
JBrowse link
G LRP1 LDL receptor related protein 1 treatment ISO DNA:SNP:exon 3:C>T (human) RGD PMID:9635959 PMID:19150622 PMID:29115637 RGD:1358747 RGD:13799352 RGD:13800553 NCBI chr 5:22,435,636...22,519,276 JBrowse link
G LRP1B LDL receptor related protein 1B onset ISO mRNA:increased expression:hippocampus (mouse) RGD PMID:23150673 RGD:151665140 NCBI chr15:9,612,805...11,499,969
Ensembl chr15:9,613,539...11,499,965
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 6:158,905,464...158,984,743
Ensembl chr 6:158,905,460...158,982,873
JBrowse link
G LRPAP1 LDL receptor related protein associated protein 1 onset ISO DNA:deletion:intron RGD PMID:11425005 RGD:1358749 NCBI chr 8:2,129,492...2,145,632
Ensembl chr 8:2,125,405...2,145,647
JBrowse link
G MAOA monoamine oxidase A ISO RGD PMID:1627256 RGD:10046060 NCBI chr  X:38,930,452...39,006,220 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:39,025,973...39,144,389
Ensembl chr  X:39,025,971...39,144,345
JBrowse link
G MAP2 microtubule associated protein 2 ISO RGD PMID:22083255 RGD:6483322 NCBI chr15:112,156,578...112,462,932
Ensembl chr15:112,156,578...112,460,171
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 chr14:50,083,079...50,165,528
Ensembl chr14:50,082,896...50,165,523
JBrowse link
G MAPK10 mitogen-activated protein kinase 10 ISO protein:increased expression:CA1 field of hippocampus: RGD PMID:11208906 RGD:10412676 NCBI chr 8:132,445,818...132,751,575
Ensembl chr 8:132,249,635...132,776,820
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 chr 7:31,791,398...31,861,544
Ensembl chr 7:31,790,104...31,862,038
JBrowse link
G MAPK3 mitogen-activated protein kinase 3 treatment ISO RGD PMID:28079060 RGD:13800563 NCBI chr 3:18,291,444...18,299,410
Ensembl chr 3:18,291,445...18,299,567
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 chr14:88,988,914...89,108,875
Ensembl chr14:88,988,949...89,172,200
JBrowse link
G MAPK9 mitogen-activated protein kinase 9 ISO protein:increased expression:brain,CA1 field of hippocampus: RGD PMID:11208906 RGD:10412676 NCBI chr 2:78,338,466...78,399,108
Ensembl chr 2:78,338,369...78,399,105
JBrowse link
G MAPT microtubule associated protein tau treatment
onset
no_association
ISO ClinVar Annotator: match by term: Alzheimer disease
DNA:mutation:cds:p.R406W(human)
DNA:SNP, haplotypes:promoter:rs242557 (human)
DNA:SNPs, haplotypes:promoter:rs242557 (human)
RGD
ClinVar
PMID:18587238 PMID:19252918 PMID:19308965 PMID:23116876 PMID:27060945 More... RGD:10412701 RGD:10412704 RGD:13800904 RGD:13800908 RGD:8158097 RGD:8158105 NCBI chr12:17,098,259...17,211,483
Ensembl chr12:17,095,587...17,211,368
JBrowse link
G MBL2 mannose binding lectin 2 susceptibility ISO DNA:haplotype:promoter:
protein:decreased expression:cerebrospinal fluid (human)
RGD PMID:9631454 PMID:23348713 RGD:12910848 RGD:4889155 NCBI chr14:97,103,926...97,107,635
Ensembl chr14:97,102,894...97,108,936
JBrowse link
G MCM2 minichromosome maintenance complex component 2 ISO RGD PMID:17070803 PMID:19946466 RGD:10412048 RGD:10412050 NCBI chr13:72,630,378...72,651,270
Ensembl chr13:72,630,380...72,657,620
JBrowse link
G MDM4 MDM4 regulator of p53 disease_progression ISO RGD PMID:23861893 RGD:10047419 NCBI chr 9:65,175,488...65,219,747
Ensembl chr 9:65,175,377...65,223,132
JBrowse link
G MFN1 mitofusin 1 ISO protein:decreased expression:hippocampus (human) RGD PMID:19605646 RGD:7800727 NCBI chr13:117,404,637...117,441,750
Ensembl chr13:117,404,699...117,442,481
JBrowse link
G MFN2 mitofusin 2 ISO protein:increased expression:hippocampus (rat)
protein:decreased expression:hippocampus (human)
RGD PMID:19605646 PMID:28302704 RGD:12910737 RGD:7800727 NCBI chr 6:72,026,512...72,056,439
Ensembl chr 6:72,026,722...72,056,439
JBrowse link
G MIR100 microRNA mir-100 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25992776 NCBI chr 9:49,157,909...49,157,988
Ensembl chr 9:49,157,909...49,157,988
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 chr13:189,138,822...189,138,902
Ensembl chr13:189,138,822...189,138,902
JBrowse link
G MIR505 microRNA mir-505 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25992776 NCBI chr  X:114,563,942...114,564,021
Ensembl chr  X:114,563,942...114,564,021
JBrowse link
G MIR708 microRNA mir-708 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25992776 NCBI chr 9:13,780,171...13,780,250
Ensembl chr 9:13,780,171...13,780,250
JBrowse link
G MIR99A microRNA mir-99a ISO ClinVar Annotator: match by term: Alzheimer disease ClinVar PMID:16369530 PMID:16921174 PMID:24691562 NCBI chr13:181,302,483...181,302,562
Ensembl chr13:181,302,478...181,302,567
JBrowse link
G MIRLET7C microRNA let-7c ISO ClinVar Annotator: match by term: Alzheimer disease ClinVar PMID:16369530 PMID:16921174 PMID:24691562 NCBI chr13:181,303,209...181,303,302
Ensembl chr13:181,303,209...181,303,302
JBrowse link
G MME membrane metalloendopeptidase no_association
treatment
severity
onset
ISO DNA:SNPs, repeats, deletion:promoter:multiple
DNA:repeats
DNA:SNP: :rs6797911 (human)
associated with Endotoxemia
DNA:SNPs:5' utr, 3' utr:rs3736187, rs989692, rs701109 (human)
DNA:SNPs: :multiple
DNA:SNPs, haplotypes:promoter, introns:-204G>C, IVS17-294C>T, IVS22+36C>A (human)
DNA:SNP:3' utr:rs6665 (human)
DNA:SNPs:introns:rs1836915, rs6776185, rs6801319 (human)
DNA:SNPs, repeat:multiple:multiple
RGD PMID:11849775 PMID:12074840 PMID:12527400 PMID:15860464 PMID:17928142 More... RGD:13801009 RGD:13801010 RGD:13801011 RGD:13801012 RGD:13801019 RGD:13801020 RGD:13801021 RGD:13801022 RGD:13801023 RGD:13801024 RGD:13801033 RGD:13801034 RGD:1600813 NCBI chr13:95,018,395...95,122,977
Ensembl chr13:95,019,081...95,126,045
JBrowse link
G MMP2 matrix metallopeptidase 2 ISO protein:decreased expression:platelet RGD PMID:21875409 RGD:10059680 NCBI chr 6:30,059,247...30,087,031
Ensembl chr 6:30,058,594...30,086,982
JBrowse link
G MMP9 matrix metallopeptidase 9 ISO protein:increased expression:plasma (human) RGD PMID:17697439 RGD:7207052 NCBI chr17:48,179,690...48,186,782
Ensembl chr17:48,175,056...48,188,264
JBrowse link
G MPO myeloperoxidase ISO ClinVar Annotator: match by term: Alzheimer disease | ClinVar Annotator: match by term: Alzheimer disease, susceptibility to ClinVar PMID:6260268 PMID:9766845 PMID:11087769 PMID:12915675 PMID:15023809 More... NCBI chr12:34,557,031...34,570,091
Ensembl chr12:34,556,408...34,567,904
JBrowse link
G MRE11 MRE11 homolog, double strand break repair nuclease ISO protein:decreased expression:cerebral cortex (human) RGD PMID:15337312 RGD:2317734 NCBI chr 9:26,572,352...26,634,596
Ensembl chr 9:26,572,360...26,634,568
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 chr13:189,148,711...189,166,302
Ensembl chr13:189,148,714...189,167,880
JBrowse link
G MS4A4A membrane spanning 4-domains A4A ISO CTD Direct Evidence: marker/mechanism CTD PMID:21460841 NCBI chr 2:11,226,146...11,368,033 JBrowse link
G MT-2B metallothionein-2A ISO mRNA:decreased expression:cerebral cortex (rat) RGD PMID:16914836 PMID:22766972 RGD:10412319 RGD:10412320 NCBI chr 6:18,645,125...18,646,034
Ensembl chr 6:18,645,059...18,646,033
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:3,922...4,876
Ensembl chr MT:3,922...4,876
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:11,359...12,736
Ensembl chr MT:11,359...12,736
JBrowse link
G MT3 metallothionein 3 ISO mRNA:decreased expression:brain
mRNA:increased expression:brain
RGD PMID:1464312 PMID:10595827 PMID:16444595 PMID:19619132 RGD:6480485 RGD:6480534 RGD:6480619 RGD:9685805 NCBI chr 6:18,634,735...18,636,134
Ensembl chr 6:18,634,721...18,789,137
JBrowse link
G MTHFR methylenetetrahydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17192785 NCBI chr 6:71,863,637...71,882,118
Ensembl chr 6:71,863,636...71,881,820
JBrowse link
G NAE1 NEDD8 activating enzyme E1 subunit 1 ISO RGD PMID:14557245 RGD:2302388 NCBI chr 6:27,511,541...27,540,142
Ensembl chr 6:27,450,869...27,540,121
JBrowse link
G NAPB NSF attachment protein beta ISO protein:decreased expression:temporal cortex RGD PMID:11244216 RGD:10412652 NCBI chr17:30,361,439...30,396,105
Ensembl chr17:30,359,420...30,396,078
JBrowse link
G NBN nibrin ISO RGD PMID:15337312 RGD:2317734 NCBI chr 4:46,787,664...46,854,331
Ensembl chr 4:46,787,659...46,903,999
JBrowse link
G NCAM1 neural cell adhesion molecule 1 ISO RGD PMID:31028587 RGD:40925918 NCBI chr 9:40,628,602...40,960,605
Ensembl chr 9:40,628,750...40,960,608
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 chr13:185,176,282...185,679,891
Ensembl chr13:185,176,885...185,679,885
JBrowse link
G NCF2 neutrophil cytosolic factor 2 ISO protein:altered localization RGD PMID:10873554 RGD:2314452 NCBI chr 9:124,776,516...124,813,358
Ensembl chr 9:124,773,498...124,812,928
JBrowse link
G NCK2 NCK adaptor protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:33589840 NCBI chr 3:49,063,813...49,222,274
Ensembl chr 3:49,063,988...49,198,664
JBrowse link
G NCSTN nicastrin no_association
onset
ISO DNA:SNP:promoter:-436C>T (human)
CTD Direct Evidence: marker/mechanism
DNA:SNPs:promoter:-796T>G, -1216C>A (human)
DNA:missense mutation, SNPs:exon, intron, 3' utr:multiple
DNA:SNPs, haplotype:introns:multiple
DNA:missense mutation: :417N>Y (human)
protein:increased modification:brain
DNA:SNP:promoter:-922G>T (rs10752637) (human)
RGD
CTD
PMID:11992262 PMID:14642438 PMID:15157994 PMID:17192785 PMID:19394408 More... RGD:13801048 RGD:13801049 RGD:13801050 RGD:13801051 RGD:13801052 RGD:13801187 RGD:13801188 NCBI chr 4:90,121,209...90,142,934
Ensembl chr 4:90,118,998...90,142,890
JBrowse link
G ND2 NADH dehydrogenase subunit 2 no_association ISO DNA:mutation::m.5460G>A RGD PMID:1352971 PMID:1370613 RGD:5507833 RGD:5507834 NCBI chr MT:5,087...6,128
Ensembl chr MT:5,087...6,128
JBrowse link
G NDUFA2 NADH:ubiquinone oxidoreductase subunit A2 ISO RGD PMID:28474567 RGD:13792588 NCBI chr 2:142,359,000...142,361,126
Ensembl chr 2:142,359,007...142,361,131
JBrowse link
G NDUFA5 NADH:ubiquinone oxidoreductase subunit A5 ISO RGD PMID:19760337 RGD:13801191 NCBI chr18:23,881,872...23,896,699
Ensembl chr18:23,881,867...23,924,133
JBrowse link
G NDUFA6 NADH:ubiquinone oxidoreductase subunit A6 ISO mRNA:increased expression:blood RGD PMID:26943237 RGD:11572212 NCBI chr 5:6,562,074...6,567,321
Ensembl chr 5:6,562,011...6,567,647
JBrowse link
G NDUFB3 NADH:ubiquinone oxidoreductase subunit B3 ISO RGD PMID:28474567 RGD:13792588 NCBI chr15:104,747,835...104,759,137
Ensembl chr15:104,747,678...104,759,139
JBrowse link
G NDUFB8 NADH:ubiquinone oxidoreductase subunit B8 ISO RGD PMID:14570706 RGD:1358651 NCBI chr14:111,626,827...111,633,548
Ensembl chr14:111,626,095...111,633,564
JBrowse link
G NDUFS3 NADH:ubiquinone oxidoreductase core subunit S3 onset ISO RGD PMID:28242297 RGD:13824970 NCBI chr 2:15,031,147...15,036,880
Ensembl chr 2:15,031,149...15,036,880
JBrowse link
G NECTIN2 nectin cell adhesion molecule 2 ISO CTD Direct Evidence: marker/mechanism
DNA:SNP: :rs6859 (human)
CTD
RGD
PMID:22159054 PMID:29107063 PMID:30319691 PMID:30320580 RGD:6484658 NCBI chr 6:51,317,386...51,358,665 JBrowse link
G NEFL neurofilament light chain ISO protein:increased expression:CSF (human) RGD PMID:29368621 PMID:29391125 RGD:127284889 RGD:127285384 NCBI chr14:8,991,321...8,996,900
Ensembl chr14:8,990,750...8,997,300
JBrowse link
G NEFM neurofilament medium chain ISO protein:decreased glycosylation:cerebral cortex RGD PMID:17687114 RGD:9743945 NCBI chr14:8,955,346...8,967,211 JBrowse link
G NFE2L2 NFE2 like bZIP transcription factor 2 treatment
onset
ISO DNA:snps, haplotype:5' utr, intron:multiple (human)
protein:increased expression:brain, nucleus
RGD PMID:19805328 PMID:20064547 PMID:22913737 PMID:23771816 RGD:10412683 RGD:10412685 RGD:10412689 RGD:6893326 NCBI chr15:82,967,485...83,146,185
Ensembl chr15:82,973,648...83,146,183
JBrowse link
G NGB neuroglobin treatment ISO RGD PMID:23428737 RGD:9743955 NCBI chr 7:100,341,974...100,346,263
Ensembl chr 7:100,340,939...100,346,438
JBrowse link
G NGF nerve growth factor ISO RGD PMID:21368378 RGD:5144128 NCBI chr 4:105,256,691...105,307,843
Ensembl chr 4:105,256,417...105,307,842
JBrowse link
G NGFR nerve growth factor receptor treatment
no_association
ISO protein:altered expression:urine
protein:decreased expression:basal nucleus of telencephalon, neuron
DNA:SNPs, haplotypes: :multiple
DNA:SNP:CDS:rs2072446
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 chr12:25,699,410...25,720,355
Ensembl chr12:25,699,427...25,720,357
JBrowse link
G NOG noggin ISO RGD PMID:19463786 RGD:10414082 NCBI chr12:32,891,321...32,892,206
Ensembl chr12:32,891,321...32,892,206
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 chr14:35,112,898...35,299,297
Ensembl chr14:35,113,184...35,295,972
JBrowse link
G NOS2 nitric oxide synthase 2 ISO RGD PMID:12384247 PMID:16908860 PMID:21163295 RGD:13824978 RGD:4891161 RGD:5508721 NCBI chr12:44,174,944...44,219,875
Ensembl chr12:44,174,944...44,327,111
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 chr18:6,209,218...6,228,912
Ensembl chr18:6,209,156...6,228,938
JBrowse link
G NPY neuropeptide Y treatment ISO protein:decreased expression:plasma
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:8592643 PMID:11709213 PMID:22266216 RGD:10431479 RGD:10432246 NCBI chr18:47,985,796...47,993,726
Ensembl chr18:47,985,725...47,993,289
JBrowse link
G NRG1 neuregulin 1 disease_progression ISO RGD PMID:12528817 PMID:29295823 RGD:10449002 RGD:41404730 NCBI chr15:52,625,550...53,688,003
Ensembl chr15:52,627,334...53,688,332
JBrowse link
G NRGN neurogranin ISO RGD PMID:9329454 RGD:9835394 NCBI chr 9:51,967,313...51,977,197
Ensembl chr 9:51,974,528...51,975,691
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 chr13:179,822,731...179,916,226
Ensembl chr13:179,824,862...179,915,177
JBrowse link
G NTF3 neurotrophin 3 ISO DNA:missense mutation:cds:p.G63E (human) RGD PMID:9502217 RGD:1358754 NCBI chr 5:65,052,608...65,122,645
Ensembl chr 5:65,052,517...65,123,788
JBrowse link
G NTN1 netrin 1 treatment ISO RGD PMID:30066400 RGD:13782183 NCBI chr12:54,089,444...54,292,191
Ensembl chr12:54,089,472...54,308,355
JBrowse link
G NTRK1 neurotrophic receptor tyrosine kinase 1 disease_progression ISO early onset sporadic AD; DNA:SNP:CDS:rs6336
mRNA:decreased expression:brain
RGD PMID:18780967 PMID:21397006 RGD:5508228 RGD:5684531 NCBI chr 4:93,219,509...93,237,944
Ensembl chr 4:93,219,516...93,237,930
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 chr10:30,030,050...30,429,938
Ensembl chr10:30,033,379...30,429,882
JBrowse link
G NUDT1 nudix hydrolase 1 ISO protein:decreased expression:hippocampus RGD PMID:21538080 RGD:10449033 NCBI chr 3:1,567,417...1,575,801
Ensembl chr 3:1,567,114...1,576,235
JBrowse link
G OPA1 OPA1 mitochondrial dynamin like GTPase ISO protein:decreased expression:brain RGD PMID:19605646 RGD:7800727 NCBI chr13:130,624,771...130,718,345
Ensembl chr13:130,624,823...130,719,083
JBrowse link
G PAK1 p21 (RAC1) activated kinase 1 ISO protein:altered localization RGD PMID:18347024 RGD:2299169 NCBI chr 9:11,830,095...11,973,074
Ensembl chr 9:11,830,093...12,113,670
JBrowse link
G PARP1 poly(ADP-ribose) polymerase 1 susceptibility ISO DNA:haplotypes:cds:rs1136410,rs1805404 (human)
protein:increased activity:brain:
DNA:haplotypes: :
RGD PMID:17290104 PMID:20486200 PMID:21616968 PMID:22051244 RGD:10413885 RGD:10413887 RGD:10413888 RGD:5510011 NCBI chr10:14,203,157...14,241,164
Ensembl chr10:14,203,159...14,241,197
JBrowse link
G PAWR pro-apoptotic WT1 regulator ISO mRNA,protein:increased expression:brain: RGD PMID:9701251 RGD:9835364 NCBI chr 5:101,693,145...101,797,842
Ensembl chr 5:101,692,143...101,797,835
JBrowse link
G PCDH11X protocadherin 11 X-linked ISO ClinVar Annotator: match by term: Alzheimer disease ClinVar PMID:29476165 NCBI chr  X:74,462,811...75,191,930 JBrowse link
G PCK1 phosphoenolpyruvate carboxykinase 1 disease_progression ISO DNA:SNP: :rs8192708(human)
DNA:SNPs
RGD PMID:17440948 PMID:20574532 RGD:10427727 RGD:2311642 NCBI chr17:57,930,507...57,936,523
Ensembl chr17:57,930,432...57,938,896
JBrowse link
G PCMT1 protein-L-isoaspartate (D-aspartate) O-methyltransferase ISO mRNA:increased expression:cerebral cortex: RGD PMID:8736634 RGD:10448277 NCBI chr 1:16,202,859...16,249,879
Ensembl chr 1:16,198,223...16,249,531
JBrowse link
G PCSK1N proprotein convertase subtilisin/kexin type 1 inhibitor ISO RGD PMID:14746899 RGD:1642360 NCBI chr  X:42,947,688...42,952,222
Ensembl chr  X:42,947,686...42,952,221
JBrowse link
G PDE2A phosphodiesterase 2A treatment ISO RGD PMID:22771768 RGD:10449025 NCBI chr 9:7,136,637...7,227,966
Ensembl chr 9:7,136,644...7,227,964
JBrowse link
G PDGFB platelet derived growth factor subunit B ISO protein:increased expression:plasma: RGD PMID:22279551 RGD:10449445 Ensembl chr 5:8,986,461...9,007,446 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 chr14:34,523,901...34,530,238 JBrowse link
G PGRMC1 progesterone receptor membrane component 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25390692 NCBI chr  X:97,735,402...97,743,424
Ensembl chr  X:97,735,328...97,743,421
JBrowse link
G PHACTR2 phosphatase and actin regulator 2 ISO mRNA: splice variants RGD PMID:20590401 RGD:6483097 NCBI chr 1:21,438,744...21,723,255
Ensembl chr 1:21,441,492...21,723,790
JBrowse link
G PICALM phosphatidylinositol binding clathrin assembly protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:19734902 PMID:21460841 NCBI chr 9:19,835,934...19,947,239
Ensembl chr 9:19,835,938...20,104,632
JBrowse link
G PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma ISO RGD PMID:20025958 RGD:6482689 NCBI chr 9:106,698,200...106,748,217
Ensembl chr 9:106,698,207...106,745,099
JBrowse link
G PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 onset ISO DNA:polymorphism: :p.M326I (human) RGD PMID:12185156 RGD:1625215 NCBI chr16:46,434,757...46,523,626
Ensembl chr16:46,434,873...46,523,609
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 chr14:76,629,313...76,635,173
Ensembl chr14:76,629,299...76,635,172
JBrowse link
G PLCB1 phospholipase C beta 1 ISO RGD PMID:8534418 RGD:13825140 NCBI chr17:17,007,197...17,745,314
Ensembl chr17:17,007,261...17,745,312
JBrowse link
G PLCD1 phospholipase C delta 1 ISO ClinVar Annotator: match by term: Alzheimer disease, early onset ClinVar PMID:25741868 NCBI chr13:22,851,581...22,872,950
Ensembl chr13:22,851,584...22,865,175
JBrowse link
G PLCG1 phospholipase C gamma 1 ISO RGD PMID:8534418 RGD:13825140 NCBI chr17:43,810,003...43,844,553
Ensembl chr17:43,809,677...43,844,555
JBrowse link
G PLCG2 phospholipase C gamma 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28714976 NCBI chr 6:6,433,146...6,603,092
Ensembl chr 6:6,433,153...6,603,060
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 chr12:22,648,396...22,651,520
Ensembl chr12:22,648,397...22,650,002
JBrowse link
G PON1 paraoxonase 1 ISO DNA:polymorphisms:multiple SNPs RGD PMID:16319130 RGD:5509926 NCBI chr 9:74,943,646...74,974,720
Ensembl chr 9:74,926,048...74,974,724
JBrowse link
G PON2 paraoxonase 2 ISO DNA:missense mutation:cds:p.C311S (human)
DNA:SNPs:multiple
RGD PMID:11803456 PMID:16319130 RGD:1580219 RGD:5509926 NCBI chr 9:75,027,270...75,051,441
Ensembl chr 9:75,027,097...75,051,422
JBrowse link
G PON3 paraoxonase 3 ISO DNA:polymorphisms:multiple SNPs RGD PMID:16319130 RGD:5509926 NCBI chr 9:74,983,040...75,017,947
Ensembl chr 9:74,991,277...75,017,942
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 chr 5:3,302,755...3,321,091
Ensembl chr 5:3,300,708...3,366,361
JBrowse link
G PPARG peroxisome proliferator activated receptor gamma susceptibility
no_association
ISO DNA:SNP:cds:p.P12A(human)
CTD Direct Evidence: marker/mechanism
DNA:SNPs: :multiple (human)
RGD
CTD
PMID:15993441 PMID:16407166 PMID:17440948 PMID:18573313 PMID:30328325 RGD:2301852 RGD:2311642 NCBI chr13:68,301,566...68,433,951
Ensembl chr13:68,302,655...68,433,947
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 8:17,841,844...18,527,953
Ensembl chr 8:17,841,844...17,961,909
JBrowse link
G PPP1R9B protein phosphatase 1 regulatory subunit 9B severity ISO protein:decreased expression:cerebral cortex (mouse)
protein:decreased expression:brain, synaptosome (human)
RGD PMID:23764848 RGD:10043802 NCBI chr12:26,319,123...26,337,089
Ensembl chr12:26,319,124...26,336,562
JBrowse link
G PPP2R2B protein phosphatase 2 regulatory subunit Bbeta ISO DNA:repeat RGD PMID:21029765 RGD:5686295 NCBI chr 2:147,938,074...148,422,825
Ensembl chr 2:147,937,439...148,411,731
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 chr 3:74,004,620...74,068,173
Ensembl chr 3:74,000,400...74,071,340
JBrowse link
G PRKCB protein kinase C beta ISO RGD PMID:8534418 RGD:13825140 NCBI chr 3:21,995,227...22,383,628
Ensembl chr 3:21,995,231...22,383,264
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 1:5,698,508...6,731,132
Ensembl chr 1:5,465,511...6,730,881
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 chr17:13,694,195...13,705,126
Ensembl chr17:13,693,628...13,705,318
JBrowse link
G PSEN1 presenilin 1 ISO ClinVar Annotator: match by term: Alzheimer disease | ClinVar Annotator: match by term: Early-Onset Familial Alzheimer Disease ClinVar PMID:8773614 PMID:9384602 PMID:9851443 PMID:9851450 PMID:9915968 More... NCBI chr 7:96,478,179...96,567,884
Ensembl chr 7:96,478,181...96,569,132
JBrowse link
G PSEN2 presenilin 2 severity ISO DNA:missense mutation:cds:p.N141I (human)
ClinVar Annotator: match by term: Alzheimer disease | ClinVar Annotator: match by term: Early-Onset Familial Alzheimer Disease
RGD
ClinVar
PMID:9384602 PMID:10976645 PMID:11723295 PMID:14623725 PMID:15130954 More... RGD:9743900 NCBI chr10:14,532,556...14,561,862
Ensembl chr10:14,532,550...14,561,858
JBrowse link
G PTGER4 prostaglandin E receptor 4 ISO RGD PMID:22044482 RGD:6483525 NCBI chr16:25,670,832...25,686,556
Ensembl chr16:25,670,862...25,686,552
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 1:262,456,106...262,482,159
Ensembl chr 1:262,456,155...262,483,035
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 9:127,850,164...127,858,866
Ensembl chr 9:127,850,013...127,858,884
JBrowse link
G PTK2B protein tyrosine kinase 2 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:33589840 NCBI chr14:11,063,662...11,194,196
Ensembl chr14:11,064,492...11,194,194
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 chr 2:40,458,865...40,521,470
Ensembl chr 2:40,458,903...40,523,363
JBrowse link
G PYY peptide YY ISO CTD Direct Evidence: marker/mechanism CTD PMID:11709213 NCBI chr12:19,190,703...19,208,373 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 chr13:179,180,611...179,191,934
Ensembl chr13:179,180,466...179,191,924
JBrowse link
G RCAN1 regulator of calcineurin 1 ISO RGD PMID:11483593 RGD:1580889 NCBI chr13:198,106,256...198,205,727
Ensembl chr13:198,102,098...198,205,629
JBrowse link
G RELN reelin ISO protein:increased expression:cerebrospinal fluid (human)
CTD Direct Evidence: marker/mechanism
protein: increased expression: brain
RGD
CTD
PMID:12645087 PMID:20025970 PMID:20610758 RGD:13207521 RGD:729771 NCBI chr 9:103,460,855...103,963,728
Ensembl chr 9:103,460,857...103,963,965
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
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 chr13:179,431,494...179,509,359
Ensembl chr13:179,428,694...179,562,929
JBrowse link
G SELL selectin L severity ISO protein:decreased expression:plasma RGD PMID:21484243 RGD:5685677 NCBI chr 4:81,306,363...81,325,296
Ensembl chr 4:81,306,373...81,326,778
JBrowse link
G SELP selectin P severity ISO protein:decreased expression:plasma RGD PMID:21484243 RGD:5685677 NCBI chr 4:81,376,804...81,401,240
Ensembl chr 4:81,365,740...81,406,203
JBrowse link
G SERPINE2 serpin family E member 2 ISO RGD PMID:2813392 RGD:2317937 NCBI chr15:125,748,383...125,777,788
Ensembl chr15:125,747,294...125,816,215
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 chr12:47,949,004...47,959,471
Ensembl chr12:47,943,051...47,959,472
JBrowse link
G SHC1 SHC adaptor protein 1 ISO protein:increased phosphorylation:neuron RGD PMID:15837797 RGD:1643185 NCBI chr 4:94,818,226...94,831,766
Ensembl chr 4:94,810,875...94,831,765
JBrowse link
G SIRT1 sirtuin 1 treatment ISO protein:increased expression:forebrain (mouse) RGD PMID:16751189 PMID:17581637 RGD:10047116 RGD:2290573 NCBI chr14:71,091,167...71,126,351
Ensembl chr14:71,091,157...71,123,299
JBrowse link
G SIRT3 sirtuin 3 ISO mRNA:increased expression:brain
mRNA:increased expression:temporal cortex
RGD PMID:23139766 RGD:9586045 NCBI chr 2:38,465...55,074
Ensembl chr 2:38,470...55,101
JBrowse link
G SLA-DRB1 MHC class II histocompatibility antigen SLA-DRB1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27713094 NCBI chr 7:24,901,386...24,914,016
Ensembl chr 7:24,881,775...24,914,053
JBrowse link
G SLC18A3 solute carrier family 18 member A3 ISO mRNA, protein:decreased expression:frontal association cortex
mRNA:decreased expression:cerebral cortex
RGD PMID:21333939 PMID:21743130 RGD:5686430 RGD:5686673 NCBI chr14:90,113,534...90,115,813
Ensembl chr14:90,113,844...90,115,430
JBrowse link
G SLC25A4 solute carrier family 25 member 4 ISO RGD PMID:21958963 RGD:9681463 NCBI chr15:46,193,498...46,197,989
Ensembl chr15:46,193,699...46,200,994
JBrowse link
G SLC2A1 solute carrier family 2 member 1 ISO RGD PMID:8179300 RGD:2313620 NCBI chr 6:168,535,398...168,561,170
Ensembl chr 6:168,534,655...168,690,095
JBrowse link
G SLC2A3 solute carrier family 2 member 3 ISO RGD PMID:8179300 RGD:2313620 NCBI chr 5:62,963,635...63,041,955 JBrowse link
G SLC2A4 solute carrier family 2 member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24055495 NCBI chr12:52,628,746...52,634,965
Ensembl chr12:52,628,450...52,634,967
JBrowse link
G SLC30A4 solute carrier family 30 member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16580781 NCBI chr 1:126,236,971...126,268,102
Ensembl chr 1:126,237,032...126,268,102
JBrowse link
G SLC30A6 solute carrier family 30 member 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16580781 NCBI chr 3:107,387,875...107,426,330
Ensembl chr 3:107,387,860...107,426,337
JBrowse link
G SLC8A1 solute carrier family 8 member A1 ISO protein:altered expression:synaptosome: RGD PMID:21382638 RGD:13628395 NCBI chr 3:99,823,503...100,257,306
Ensembl chr 3:99,897,162...100,245,140
JBrowse link
G SLC8A2 solute carrier family 8 member A2 ISO protein:altered expression:synaptosome: RGD PMID:21382638 RGD:13628395 NCBI chr 6:53,201,477...53,236,489
Ensembl chr 6:53,201,484...53,236,367
JBrowse link
G SLC8A3 solute carrier family 8 member A3 ISO protein:altered expression:parietal cortex, synaptosome: RGD PMID:21382638 RGD:13628395 NCBI chr 7:93,643,609...93,797,483
Ensembl chr 7:93,643,613...93,797,254
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 chr 1:82,540,998...82,698,652
Ensembl chr 1:82,540,985...82,697,342
JBrowse link
G SNCA synuclein alpha ISO human gene in a mouse model
protein:increased expression:cerebrospinal fluid
RGD PMID:11572944 PMID:18577885 RGD:1302528 RGD:6478792 NCBI chr 8:129,247,724...129,388,307
Ensembl chr 8:129,248,819...129,388,307
JBrowse link
G SNCB synuclein beta ISO mRNA:decreased expression:brain RGD PMID:11578596 RGD:6480194 NCBI chr 2:81,287,764...81,302,859
Ensembl chr 2:81,287,878...81,302,863
JBrowse link
G SNCG synuclein gamma ISO protein:increased expression:cerebrospinal fluid RGD PMID:18577885 RGD:6478792 NCBI chr14:87,916,353...87,922,111
Ensembl chr14:87,904,773...87,922,112
JBrowse link
G SNRNP70 small nuclear ribonucleoprotein U1 subunit 70 ISO protein:increased expression:cerebral cortex (human) RGD PMID:24023061 RGD:10448959 NCBI chr 6:54,288,354...54,304,272
Ensembl chr 6:54,288,354...54,304,270
JBrowse link
G SNRPA small nuclear ribonucleoprotein polypeptide A ISO protein:increased expression:cerebral cortex (human) RGD PMID:24023061 RGD:10448959 NCBI chr 6:48,971,868...48,982,369
Ensembl chr 6:48,971,339...48,999,605
JBrowse link
G SOD1 superoxide dismutase 1 ISO mRNA:altered expression:hippocampus, hypothalamus (rat)
protein:decreased expression:frontal lobe (human)
RGD PMID:20027333 PMID:22072713 RGD:8655610 RGD:8657017 NCBI chr13:195,326,573...195,335,273
Ensembl chr13:195,326,649...195,337,749
JBrowse link
G SOD2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:16369462 PMID:19374891 RGD:1579972 NCBI chr 1:7,679,352...7,689,564
Ensembl chr 1:7,651,280...7,691,723
JBrowse link
G SORL1 sortilin related receptor 1 ISO RGD PMID:15313836 RGD:1581303 NCBI chr 9:48,435,350...48,653,670
Ensembl chr 9:48,435,016...48,653,655
JBrowse link
G SPINT1 serine peptidase inhibitor, Kunitz type 1 ISO protein:decreased expression:parietal cortex (human) RGD PMID:9743567 RGD:1581317 NCBI chr 1:130,458,909...130,473,791
Ensembl chr 1:130,458,909...130,473,783
JBrowse link
G SPRED2 sprouty related EVH1 domain containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:33589840 NCBI chr 3:76,527,646...76,649,652
Ensembl chr 3:76,523,589...76,649,650
JBrowse link
G STAT3 signal transducer and activator of transcription 3 ISO protein:decreased tyrosine phosphorylation:dentate gyrus
protein:decreased tyrosine phosphorylation:dentate gyrus, CA1 field of hippocampus
RGD PMID:18813209 RGD:10403051 NCBI chr12:20,407,316...20,471,091
Ensembl chr12:20,407,233...20,472,993
JBrowse link
G STOX1 storkhead box 1 severity ISO protein:increased expression:CA4 field of hippocampus (human) RGD PMID:20110611 RGD:11554028 NCBI chr14:71,927,387...71,985,239
Ensembl chr14:71,928,399...71,985,233
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:43,232,190...43,246,764
Ensembl chr  X:43,232,195...43,246,682
JBrowse link
G TAP2 transporter 2, ATP binding cassette subfamily B member susceptibility ISO DNA:SNP: :(rs241448)(human) RGD PMID:16595160 RGD:6482265 NCBI chr 7:25,045,085...25,056,915 JBrowse link
G TARDBP TAR DNA binding protein ISO protein:increased expression:brain
protein:increased expression, phosphorylation:motor cortex
RGD PMID:21070634 PMID:21376022 RGD:5687139 RGD:5687178 NCBI chr 6:71,213,584...71,227,707
Ensembl chr 6:71,213,852...71,227,704
JBrowse link
G TBP TATA-box binding protein ISO protein:increased expression:hippocampus, entorhinal cortex (human) RGD PMID:15193429 RGD:5684338 NCBI chr 1:5,669...23,675 JBrowse link
G TDO2 tryptophan 2,3-dioxygenase treatment ISO RGD PMID:27190010 RGD:13601984 NCBI chr 8:44,708,722...44,725,954
Ensembl chr 8:44,708,746...44,740,980
JBrowse link
G TF transferrin ISO ClinVar Annotator: match by term: Transferrin variant c1/c2 ClinVar PMID:9272172 PMID:15060098 PMID:20029940 PMID:28492532 NCBI chr13:74,930,655...74,970,599
Ensembl chr13:74,930,655...74,970,599
JBrowse link
G TFAM transcription factor A, mitochondrial susceptibility ISO DNA:SNP: :rs1937 (human)
DNA:SNP:intron:IVS4+113A>G (rs2306604) (human)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:17192785 PMID:17537576 PMID:21799244 RGD:6767575 RGD:6771185 NCBI chr14:92,261,713...92,279,731
Ensembl chr14:92,259,403...92,279,550
JBrowse link
G THBD thrombomodulin ISO protein:increased expression:blood RGD PMID:15760641 RGD:5685018 NCBI chr17:30,219,870...30,223,499
Ensembl chr17:30,221,819...30,230,177
JBrowse link
G TIMP2 TIMP metallopeptidase inhibitor 2 ISO RGD PMID:12614934 RGD:1580169 NCBI chr12:3,254,794...3,300,835
Ensembl chr12:3,254,493...3,300,835
JBrowse link
G TLR4 toll like receptor 4 ISO RGD PMID:16157451 RGD:1580680 NCBI chr 1:258,044,610...258,054,641
Ensembl chr 1:258,044,610...258,059,004
JBrowse link
G TMED10 transmembrane p24 trafficking protein 10 ISO protein:decreased expression:brain cortex (human) RGD PMID:18652896 RGD:2317276 NCBI chr 7:98,327,402...98,362,652
Ensembl chr 7:98,327,402...98,368,601
JBrowse link
G TMPRSS15 transmembrane serine protease 15 ISO ClinVar Annotator: match by term: Alzheimer disease ClinVar PMID:16369530 PMID:16921174 PMID:24691562 NCBI chr13:182,829,822...183,000,734
Ensembl chr13:182,829,843...182,987,908
JBrowse link
G TNF tumor necrosis factor no_association
onset
susceptibility
ISO DNA:polymorphism:promoter:multiple(human)
ClinVar Annotator: match by term: Alzheimer disease, protection against
DNA:polymorphism:promoter:-308G>A(human)
RGD
ClinVar
PMID:10400991 PMID:15468911 PMID:16516271 PMID:16908746 PMID:18834925 More... RGD:13825248 RGD:13825253 RGD:13825256 RGD:13825257 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,636...23,703,655
JBrowse link
G TNFRSF1A TNF receptor superfamily member 1A no_association ISO protein:increased expression:brain:
protein:increased expression:cerebrospinal fluid:
RGD PMID:17267158 PMID:17724122 PMID:20110607 PMID:21978728 RGD:13825249 RGD:13825266 RGD:13825267 RGD:13825268 NCBI chr 5:64,319,349...64,331,876
Ensembl chr 5:64,319,073...64,331,909
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 6:72,195,420...72,231,146
Ensembl chr 6:72,195,435...72,231,149
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 6:51,359,948...51,369,932
Ensembl chr 6:51,359,689...51,369,923
JBrowse link
G TP53 tumor protein p53 ISO RGD PMID:17581637 RGD:2290573 NCBI chr12:52,939,643...52,953,786
Ensembl chr12:52,939,643...52,953,819
JBrowse link
G TPH1 tryptophan hydroxylase 1 ISO RGD PMID:15182943 RGD:1580467 NCBI chr 2:41,075,623...41,109,005
Ensembl chr 2:41,028,692...41,108,928
JBrowse link
G TPI1 triosephosphate isomerase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19374891 NCBI chr 5:63,839,473...63,842,853
Ensembl chr 5:63,837,506...63,843,137
JBrowse link
G TPP1 tripeptidyl peptidase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10320038 NCBI chr 9:3,135,580...3,143,408
Ensembl chr 9:3,135,642...3,143,408
JBrowse link
G TREM2 triggering receptor expressed on myeloid cells 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24663666 PMID:28714976 NCBI chr 7:36,465,921...36,471,509
Ensembl chr 7:36,464,034...36,471,516
JBrowse link
G TSC2 TSC complex subunit 2 ISO RGD PMID:16341938 RGD:1580518 NCBI chr 3:39,898,924...39,935,579
Ensembl chr 3:39,898,922...39,937,371
JBrowse link
G TSPAN14 tetraspanin 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:33589840 NCBI chr14:82,305,594...82,364,675
Ensembl chr14:82,305,714...82,364,661
JBrowse link
G TTR transthyretin ISO RGD PMID:16552785 RGD:1580525 NCBI chr 6:115,496,338...115,503,974
Ensembl chr 6:115,496,193...115,503,977
JBrowse link
G UCHL1 ubiquitin C-terminal hydrolase L1 ISO RGD PMID:14722078 RGD:1580538 NCBI chr 8:32,353,766...32,367,288
Ensembl chr 8:32,353,246...32,367,323
JBrowse link
G UCP1 uncoupling protein 1 ISO protein:decreased expression:plasma (human) RGD PMID:24498895 RGD:10045648 NCBI chr 8:86,522,028...86,526,162 JBrowse link
G UQCRC1 ubiquinol-cytochrome c reductase core protein 1 ISO DNA:hypermethylation:promoter:
protein:decreased expression:temporal cortex
RGD PMID:11130185 PMID:26943237 RGD:11572212 RGD:13831335 NCBI chr13:31,298,449...31,308,719
Ensembl chr13:31,298,449...31,309,516
JBrowse link
G USP25 ubiquitin specific peptidase 25 ISO ClinVar Annotator: match by term: Alzheimer disease ClinVar PMID:16369530 PMID:16921174 PMID:24691562 NCBI chr13:180,571,019...180,708,966
Ensembl chr13:180,570,969...180,714,075
JBrowse link
G VCP valosin containing protein ISO ClinVar Annotator: match by term: Alzheimer disease ClinVar PMID:30279455 NCBI chr 1:235,854,532...235,869,712
Ensembl chr 1:235,796,446...235,876,321
JBrowse link
G VEGFA vascular endothelial growth factor A ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:15732116 RGD:1580571 NCBI chr 7:38,746,393...38,762,282
Ensembl chr 7:38,746,052...38,761,038
JBrowse link
G VIM vimentin ISO protein:increased expression:brain RGD PMID:19728994 RGD:6480519 NCBI chr10:43,516,441...43,526,172
Ensembl chr10:43,517,307...43,526,172
JBrowse link
G VLDLR very low density lipoprotein receptor ISO DNA:repeat RGD PMID:7550352 RGD:737739 NCBI chr 1:219,178,501...219,210,332
Ensembl chr 1:219,173,504...219,210,343
JBrowse link
G VPS13C vacuolar protein sorting 13 homolog C ISO ClinVar Annotator: match by term: Alzheimer disease, early onset ClinVar PMID:25741868 NCBI chr 1:109,931,269...110,105,519
Ensembl chr 1:109,931,264...110,104,241
JBrowse link
G VSNL1 visinin like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25806004 NCBI chr 3:120,177,897...120,288,157
Ensembl chr 3:120,177,901...120,288,162
JBrowse link
G WT1 WT1 transcription factor ISO RGD PMID:12914969 RGD:1580623 NCBI chr 2:28,411,467...28,456,007
Ensembl chr 2:28,411,794...28,456,003
JBrowse link
G WWOX WW domain containing oxidoreductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:30820047 NCBI chr 6:8,910,209...9,871,048
Ensembl chr 6:8,911,139...9,871,102
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 chr13:83,063,810...83,174,497
Ensembl chr13:83,065,934...83,174,537
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: Alzheimer disease type 1 | ClinVar Annotator: match by term: Early-onset familial form of Alzheimer disease OMIM
ClinVar
PMID:1303239 PMID:1303275 PMID:1415269 PMID:1520398 PMID:1634237 More... NCBI chr13:189,434,854...189,716,120
Ensembl chr13:189,434,869...189,716,057
JBrowse link
G HFE homeostatic iron regulator ISO OMIM NCBI chr 7:20,758,604...20,767,004
Ensembl chr 7:20,758,741...20,768,741
JBrowse link
G MPO myeloperoxidase ISO OMIM NCBI chr12:34,557,031...34,570,091
Ensembl chr12:34,556,408...34,567,904
JBrowse link
G NOS3 nitric oxide synthase 3 ISO OMIM NCBI chr18:6,209,218...6,228,912
Ensembl chr18:6,209,156...6,228,938
JBrowse link
G PLAU plasminogen activator, urokinase ISO OMIM NCBI chr14:76,629,313...76,635,173
Ensembl chr14:76,629,299...76,635,172
JBrowse link
Alzheimer's disease 18 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAM10 ADAM metallopeptidase domain 10 susceptibility ISO ClinVar Annotator: match by term: Alzheimer disease 18 OMIM
ClinVar
PMID:19608551 PMID:24055016 NCBI chr 1:113,289,480...113,407,940
Ensembl chr 1:113,289,197...113,413,569
JBrowse link
Alzheimer's disease 19 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PLD3 phospholipase D family member 3 ISO ClinVar Annotator: match by term: Alzheimer disease 19 ClinVar PMID:24336208 PMID:25832408 PMID:25832410 PMID:25832411 PMID:28492532 NCBI chr 6:48,645,347...48,667,394
Ensembl chr 6:48,645,437...48,669,430
JBrowse link
Alzheimer's disease 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APOE apolipoprotein E ISO ClinVar Annotator: match by term: Alzheimer disease associated with APOE E4 OMIM
ClinVar
PMID:2987927 PMID:3353383 PMID:3922972 PMID:7263700 PMID:8294487 More... NCBI chr 6:51,373,113...51,375,333
Ensembl chr 6:51,372,259...51,377,794
JBrowse link
Alzheimer's disease 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APOE apolipoprotein E ISO OMIM NCBI chr 6:51,373,113...51,375,333
Ensembl chr 6:51,372,259...51,377,794
JBrowse link
G KIF5C kinesin family member 5C ISO protein:decreased expression:cerebellum (human) RGD PMID:24569455 RGD:12859086 NCBI chr15:3,190,341...3,361,470
Ensembl chr15:3,190,341...3,361,467
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 chr 5:71,800,337...71,945,828
Ensembl chr 5:71,800,240...71,944,938
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 7:96,478,179...96,567,884
Ensembl chr 7:96,478,181...96,569,132
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 6:51,373,113...51,375,333
Ensembl chr 6:51,372,259...51,377,794
JBrowse link
G PSEN1 presenilin 1 ISO ClinVar Annotator: match by term: Alzheimer disease 4 ClinVar PMID:8910898 PMID:9189043 PMID:9804121 PMID:15205973 PMID:27777022 More... NCBI chr 7:96,478,179...96,567,884
Ensembl chr 7:96,478,181...96,569,132
JBrowse link
G PSEN2 presenilin 2 ISO ClinVar Annotator: match by term: Alzheimer disease 4 OMIM
ClinVar
PMID:7550356 PMID:7638622 PMID:7651536 PMID:8661049 PMID:8939861 More... NCBI chr10:14,532,556...14,561,862
Ensembl chr10:14,532,550...14,561,858
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 chr 2:77,357,161...77,375,349
Ensembl chr 2:77,357,211...77,375,180
JBrowse link
G SORL1 sortilin related receptor 1 ISO ClinVar Annotator: match by term: Alzheimer disease 9 ClinVar PMID:28789839 NCBI chr 9:48,435,350...48,653,670
Ensembl chr 9:48,435,016...48,653,655
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 chr13:189,434,854...189,716,120
Ensembl chr13:189,434,869...189,716,057
JBrowse link
Alzheimer's Disease, Familial, 3, with Spastic Paraparesis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PSEN1 presenilin 1 ISO ClinVar Annotator: match by term: Alzheimer disease familial 3, with spastic paraparesis ClinVar PMID:24121961 PMID:25741868 NCBI chr 7:96,478,179...96,567,884
Ensembl chr 7:96,478,181...96,569,132
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 6:51,373,113...51,375,333
Ensembl chr 6:51,372,259...51,377,794
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 7:96,478,179...96,567,884
Ensembl chr 7:96,478,181...96,569,132
JBrowse link
Alzheimer's Disease, Familial, 3, with Spastic Paraparesis and Unusual Plaques term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PSEN1 presenilin 1 ISO ClinVar Annotator: match by term: Alzheimer disease, familial, 3, with spastic paraparesis and unusual plaques | ClinVar Annotator: match by term: Alzheimer disease, familial, 3, with unusual plaques | ClinVar Annotator: match by term: Alzheimer disease, familial, with spastic paraparesis and unusual plaques ClinVar PMID:7550356 PMID:8755489 PMID:9172170 PMID:9546792 PMID:10720282 More... NCBI chr 7:96,478,179...96,567,884
Ensembl chr 7:96,478,181...96,569,132
JBrowse link
Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TREM2 triggering receptor expressed on myeloid cells 2 ISO ClinVar Annotator: match by term: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 OMIM
ClinVar
PMID:6681564 PMID:12080485 PMID:12754369 PMID:12925681 PMID:15883308 More... NCBI chr 7:36,465,921...36,471,509
Ensembl chr 7:36,464,034...36,471,516
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 6:51,373,113...51,375,333
Ensembl chr 6:51,372,259...51,377,794
JBrowse link
G APP amyloid beta precursor protein ISO ClinVar Annotator: match by term: Presenile and senile dementia ClinVar PMID:1303239 PMID:1303275 PMID:1679289 PMID:2111584 PMID:8499923 More... NCBI chr13:189,434,854...189,716,120
Ensembl chr13:189,434,869...189,716,057
JBrowse link
G HFE homeostatic iron regulator ISO ClinVar Annotator: match by term: Presenile and senile dementia ClinVar PMID:678784 PMID:8696333 PMID:8896549 PMID:8896550 PMID:8931958 More... NCBI chr 7:20,758,604...20,767,004
Ensembl chr 7:20,758,741...20,768,741
JBrowse link
G LOC110258578 interleukin-1 beta-like ISO RGD PMID:23126199 RGD:7193138
progressive supranuclear palsy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EIF2AK3 eukaryotic translation initiation factor 2 alpha kinase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21685912 NCBI chr 3:57,423,894...57,506,247
Ensembl chr 3:57,423,875...57,506,247
JBrowse link
G MAP2K6 mitogen-activated protein kinase kinase 6 ISO RGD PMID:12392790 RGD:7495833 NCBI chr12:10,891,445...11,018,617
Ensembl chr12:10,894,932...11,018,641
JBrowse link
G MAPT microtubule associated protein tau onset ISO ClinVar Annotator: match by term: Progressive supranuclear ophthalmoplegia OMIM
ClinVar
RGD
PMID:8673924 PMID:9629852 PMID:9641683 PMID:9736786 PMID:9789048 More... RGD:8158099 NCBI chr12:17,098,259...17,211,483
Ensembl chr12:17,095,587...17,211,368
JBrowse link
G MOBP myelin associated oligodendrocyte basic protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:21685912 NCBI chr13:24,138,078...24,186,838 JBrowse link
G OGG1 8-oxoguanine DNA glycosylase ISO protein:increased expression:pontine nucleus, neuron RGD PMID:15841414 RGD:8657142 NCBI chr13:66,038,669...66,045,478 JBrowse link
G SOD1 superoxide dismutase 1 ISO protein:increased activity:brain (human) RGD PMID:11879807 RGD:8655859 NCBI chr13:195,326,573...195,335,273
Ensembl chr13:195,326,649...195,337,749
JBrowse link
G SRSF2 serine and arginine rich splicing factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25402454 NCBI chr12:4,800,578...4,803,767
Ensembl chr12:4,800,624...4,803,764
JBrowse link
G STX6 syntaxin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21685912 NCBI chr 9:122,533,737...122,580,631
Ensembl chr 9:122,529,727...122,580,651
JBrowse link
G TARDBP TAR DNA binding protein ISO RGD PMID:20512649 RGD:5687185 NCBI chr 6:71,213,584...71,227,707
Ensembl chr 6:71,213,852...71,227,704
JBrowse link
G TRA2B transformer 2 beta homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:25402454 NCBI chr13:123,760,008...123,780,919
Ensembl chr13:123,754,859...123,780,920
JBrowse link
Progressive Supranuclear Palsy Atypical term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MAPT microtubule associated protein tau ISO OMIM NCBI chr12:17,098,259...17,211,483
Ensembl chr12:17,095,587...17,211,368
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14314
    disease of anatomical entity 14040
      nervous system disease 11905
        neurodegenerative disease 3622
          tauopathy 477
            Alzheimer's disease + 467
            Diffuse Neurofibrillary Tangles with Calcification 0
            progressive supranuclear palsy + 10
Path 2
Term Annotations click to browse term
  disease 14314
    disease of anatomical entity 14040
      nervous system disease 11905
        central nervous system disease 10442
          neurodegenerative disease 3622
            tauopathy 477
              Alzheimer's disease + 467
              Diffuse Neurofibrillary Tangles with Calcification 0
              progressive supranuclear palsy + 10
paths to the root