RGD DISEASE ONTOLOGY - ANNOTATIONS
RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term: Alzheimer's disease
Accession: DOID:10652
browse the term
Definition: A tauopathy that is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability and results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid. (DO)
Synonyms: exact_synonym: AD; Alzheimer Disease, Susceptibility To; Alzheimer Sclerosis; Alzheimer Syndrome; Alzheimer Type Dementia; Alzheimer Type Dementia (ATD); Alzheimer Type Senile Dementia; Alzheimer dementia (AD); Alzheimer disease; Alzheimers dementia; Early Onset Alzheimer Disease; Familial Alzheimer Disease (FAD); Focal Onset Alzheimer's Disease; SDAT; acute confusional senile dementia; presenile Alzheimer dementia; presenile dementia; primary senile degenerative dementia; senile dementia
narrow_synonym: ALZHEIMER DISEASE, EARLY-ONSET, WITH CEREBRAL AMYLOID ANGIOPATHY; ALZHEIMER DISEASE, PROTECTION AGAINST; EARLY-ONSET FAMILIAL ALZHEIMER DISEASE; Late Onset Alzheimer Disease; late-onset Alzheimers disease; presenile and senile dementia
related_synonym: Alzheimer Disease, Early-Onset, Susceptibility To; Alzheimer Disease, Late-Onset, Susceptibility To; Alzheimer disease, association with; alpha-2-macroglobulin polymorphism; familial Alzheimer disease; transferrin variant C1/C2
primary_id: MESH:D000544
alt_id: MIM:502500
xref: EFO:0000249 ; EFO:1001870 ; GARD:10254 ; ICD9CM:331.0 ; MONDO:0004975 ; NCI:C2866
For additional species annotation, visit the
Alliance of Genome Resources .
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A2M
alpha-2-macroglobulin
no_association onset
IAGP EXP
ClinVar Annotator: match by term: ALPHA-2-MACROGLOBULIN POLYMORPHISM CTD Direct Evidence: marker/mechanism DNA:polymorphisms: :multiple DNA:deletion, polymorphisms, haplotypes: :multiple DNA:polymorphism: :p.I1000V (human) DNA:insertion/deletion, substitution DNA:deletion:splice junction:
ClinVar CTD RGD
PMID:1370808 PMID:1717945 PMID:9697696 PMID:9811940 PMID:15023809 PMID:24033266 PMID:25741868 PMID:10319853 PMID:12966032 PMID:12966032 PMID:10936700 PMID:12133586 PMID:14675603 PMID:9697696 More...
RGD:1300322 , RGD:10046016 , RGD:10046016 , RGD:10046015 , RGD:10046014 , RGD:10046012 , RGD:1302534
NCBI chr12:9,067,708...9,116,229
Ensembl chr12:9,067,664...9,116,229
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ABAT
4-aminobutyrate aminotransferase
IDA
RGD
PMID:1627256
RGD:10046060
NCBI chr16:8,674,617...8,784,570
Ensembl chr16:8,674,596...8,784,575
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ABCA1
ATP binding cassette subfamily A member 1
IAGP
RGD
PMID:15024730
RGD:1300323
NCBI chr 9:104,781,006...104,928,155
Ensembl chr 9:104,781,006...104,928,155
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ABCA7
ATP binding cassette subfamily A member 7
EXP IAGP
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Alzheimer disease, early onset
CTD ClinVar
PMID:21460840 PMID:25741868 PMID:25807283 PMID:26141617 PMID:27066581 PMID:28097223 PMID:28492532 PMID:36133075 More...
NCBI chr19:1,040,107...1,065,572
Ensembl chr19:1,039,997...1,065,572
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ABCB1
ATP binding cassette subfamily B member 1
ISO
RGD
PMID:25991605
RGD:13801010
NCBI chr 7:87,503,017...87,713,295
Ensembl chr 7:87,503,017...87,713,323
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ABCC1
ATP binding cassette subfamily C member 1 (ABCC1 blood group)
ISO
RGD
PMID:25991605
RGD:13801010
NCBI chr16:15,949,143...16,143,053
Ensembl chr16:15,949,138...16,143,257
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ABI3
ABI family member 3
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28714976
NCBI chr17:49,210,707...49,223,225
Ensembl chr17:49,210,411...49,223,225
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ABL1
ABL proto-oncogene 1, non-receptor tyrosine kinase
ISO
protein:increased expression:brain:
RGD
PMID:19700222
RGD:8693570
NCBI chr 9:130,713,043...130,887,675
Ensembl chr 9:130,713,043...130,887,675
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ACADVL
acyl-CoA dehydrogenase very long chain
IEP
protein:decreased expression:brain
RGD
PMID:25260493
RGD:10047114
NCBI chr17:7,217,125...7,225,266
Ensembl chr17:7,217,125...7,225,266
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ACE
angiotensin I converting enzyme
ISO EXP IEA
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:9916793 PMID:10643899 PMID:14872014 PMID:17192785 PMID:30820047 PMID:19080340 PMID:15118671 More...
RGD:2325232 , RGD:1331525
NCBI chr17:63,477,061...63,498,373
Ensembl chr17:63,477,061...63,498,380
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ACHE
acetylcholinesterase (Yt blood group)
IMP EXP
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:22944069 PMID:23047022 PMID:16581404
RGD:5509844
NCBI chr 7:100,889,994...100,896,994
Ensembl chr 7:100,889,994...100,896,974
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ADAM10
ADAM metallopeptidase domain 10
ISO EXP
protein:decreased expression:cerebral cortex, hippocampus CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:30820047 PMID:23296102 PMID:24792732
RGD:13703032 , RGD:13703037
NCBI chr15:58,588,809...58,749,707
Ensembl chr15:58,588,809...58,749,791
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ADAM17
ADAM metallopeptidase domain 17
onset
ISO IAGP
protein:decreased expression:cerebral cortex, hippocampus DNA:missense mutation: :p.R215I (rs142946965) (human)
RGD
PMID:24792732 PMID:29988083
RGD:13703037 , RGD:13782143
NCBI chr 2:9,488,486...9,555,830
Ensembl chr 2:9,488,486...9,556,732
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ADAM2
ADAM metallopeptidase domain 2
IEP
protein:increased expression:brain
RGD
PMID:10686596
RGD:10047127
NCBI chr 8:39,743,735...39,838,227
Ensembl chr 8:39,743,735...39,838,227
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ADAM9
ADAM metallopeptidase domain 9
ISO
protein:decreased expression:hippocampus
RGD
PMID:24792732
RGD:13703037
NCBI chr 8:38,996,973...39,105,261
Ensembl chr 8:38,996,754...39,105,445
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ADAMTS1
ADAM metallopeptidase with thrombospondin type 1 motif 1
IAGP EXP
ClinVar Annotator: match by term: Alzheimer disease CTD Direct Evidence: marker/mechanism
ClinVar CTD
PMID:16369530 PMID:16921174 PMID:24691562 PMID:25741868 PMID:30820047
NCBI chr21:26,835,755...26,845,409
Ensembl chr21:26,835,755...26,845,409
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ADAMTS5
ADAM metallopeptidase with thrombospondin type 1 motif 5
IAGP
ClinVar Annotator: match by term: Alzheimer disease
ClinVar
PMID:16369530 PMID:16921174 PMID:24691562 PMID:25741868
NCBI chr21:26,917,922...26,967,088
Ensembl chr21:26,917,922...26,967,088
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ADIPOQ
adiponectin, C1Q and collagen domain containing
IEP
protein:increased expression:plasma protein:increased expression:cerebrospinal fluid, plasma
RGD
PMID:22213409 PMID:20727007
RGD:5686377 , RGD:5686881
NCBI chr 3:186,842,710...186,858,463
Ensembl chr 3:186,842,704...186,858,463
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ADNP
activity dependent neuroprotector homeobox
ISO
RGD
PMID:18199809 PMID:17720885
RGD:2312791 , RGD:2312792
NCBI chr20:50,888,918...50,931,437
Ensembl chr20:50,888,916...50,931,437
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ADRA1A
adrenoceptor alpha 1A
susceptibility
IAGP
RGD
PMID:114750
RGD:5688374
NCBI chr 8:26,748,150...26,867,379
Ensembl chr 8:26,748,150...26,867,278
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ADRB3
adrenoceptor beta 3
IAGP
DNA:missense mutation:cds:p.W64R (human)
RGD
PMID:17440948
RGD:2311642
NCBI chr 8:37,962,990...37,966,599
Ensembl chr 8:37,962,990...37,966,599
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AGER
advanced glycosylation end-product specific receptor
treatment
IEP IDA ISO
protein:increased expression:brain (human) mRNA:increased expression:hippocampus, cerebral cortex (mouse) protein:increased expression:hippocampus (rat)
RGD
PMID:8751438 PMID:22415896 PMID:21593432 PMID:23164356 PMID:23396166 PMID:22745485 More...
RGD:1300365 , RGD:7245561 , RGD:7245965 , RGD:7244287 , RGD:7244266 , RGD:6784502
NCBI chr 6:32,180,969...32,184,253
Ensembl chr 6:32,180,968...32,184,322
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AGT
angiotensinogen
IEP
protein:increased expression:cerebrospinal fluid
RGD
PMID:21297254
RGD:5129180
NCBI chr 1:230,702,523...230,745,583
Ensembl chr 1:230,690,776...230,745,576
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AGTR1
angiotensin II receptor type 1
treatment
IMP IEP
protein:decreased expression:substantia nigra:
RGD
PMID:21929736 PMID:8666063
RGD:10047395 , RGD:10047397
NCBI chr 3:148,697,903...148,743,003
Ensembl chr 3:148,697,784...148,743,008
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AIF1
allograft inflammatory factor 1
IEP ISO
mRNA:increased expression:frontal cortex (human) protein:altered expression:hippocampus (mouse)
RGD
PMID:16340083 PMID:19084047
RGD:2313045 , RGD:2313023
NCBI chr 6:31,615,234...31,617,015
Ensembl chr 6:31,615,217...31,617,021
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AIFM1
apoptosis inducing factor mitochondria associated 1
ISO IEP
protein:increased expression:cortex,nucleus: protein:increased expression:basal forebrain,amygdala:
RGD
PMID:24915960 PMID:22536549
RGD:10053592 , RGD:10053593
NCBI chr X:130,129,362...130,165,841
Ensembl chr X:130,124,666...130,165,879
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AKAP5
A-kinase anchoring protein 5
IEP
protein:increased expression:cell soma, dendritic arbor (human)
RGD
PMID:10460255
RGD:2313287
NCBI chr14:64,465,499...64,474,503
Ensembl chr14:64,465,499...64,474,503
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AKR7A2
aldo-keto reductase family 7 member A2
IEP
protein:increased expression:superior, middle temporal gyrus;
RGD
PMID:11597610
RGD:14349051
NCBI chr 1:19,302,708...19,312,146
Ensembl chr 1:19,301,991...19,312,144
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AKT1
AKT serine/threonine kinase 1
ISO
protein:increased tyrosine phosphorylation:cerebral cortex
RGD
PMID:18023354
RGD:5509085
NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,759
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ALDH2
aldehyde dehydrogenase 2 family member
onset
IAGP
RGD
PMID:15126281
RGD:1599042
NCBI chr12:111,766,933...111,817,532
Ensembl chr12:111,766,887...111,817,532
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ALOX15
arachidonate 15-lipoxygenase
ISO IEP
protein:increased expression:brain
RGD
PMID:20570249 PMID:15111312
RGD:5509595 , RGD:5509620
NCBI chr17:4,630,919...4,641,678
Ensembl chr17:4,630,919...4,642,294
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AMBRA1
autophagy and beclin 1 regulator 1
ISO
RGD
PMID:23910655
RGD:14390071
NCBI chr11:46,396,412...46,594,023
Ensembl chr11:46,396,414...46,594,125
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AMFR
autocrine motility factor receptor
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:22313999
NCBI chr16:56,361,452...56,425,545
Ensembl chr16:56,361,452...56,425,545
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ANG
angiogenin
severity
IEP
protein:decreased expression:serum
RGD
PMID:22449478
RGD:6892705
NCBI chr14:20,684,177...20,694,186
Ensembl chr14:20,684,177...20,698,971
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ANXA5
annexin A5
ISO IEP
protein:increased expression:brain, plasma protein:increased expression: plasma
RGD
PMID:20648654 PMID:20648654
RGD:7242030 , RGD:7242030
NCBI chr 4:121,667,946...121,696,980
Ensembl chr 4:121,667,946...121,696,995
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AOC3
amine oxidase copper containing 3
severity
IEP
protein:increased expression:plasma
RGD
PMID:17393059
RGD:2313919
NCBI chr17:42,851,199...42,858,124
Ensembl chr17:42,851,184...42,858,130
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APBB1
amyloid beta precursor protein binding family B member 1
susceptibility no_association
IAGP IEP
DNA:mutations::multiple mRNA:altered expression:brain: DNA:deletion:intron: DNA:polymorphism:intron:
RGD
PMID:9799084 PMID:10723070 PMID:12727304 PMID:11099823
RGD:2301212 , RGD:10054036 , RGD:10054031 , RGD:10054028
NCBI chr11:6,395,124...6,419,453
Ensembl chr11:6,395,125...6,419,414
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APBB2
amyloid beta precursor protein binding family B member 2
onset
IAGP
DNA:SNPs: :rs13133980,rs17443013(human)
RGD
PMID:15714520
RGD:9684954
NCBI chr 4:40,810,027...41,214,542
Ensembl chr 4:40,810,027...41,216,714
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APC
APC regulator of WNT signaling pathway
IEP
protein:increased expression:astrocyte
RGD
PMID:11547943
RGD:6484525
NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,518...112,846,239
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APH1A
aph-1 homolog A, gamma-secretase subunit
treatment
ISO
RGD
PMID:28588301 PMID:29926633
RGD:13703122 , RGD:13703123
NCBI chr 1:150,265,404...150,269,016
Ensembl chr 1:150,265,399...150,269,580
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APH1B
aph-1 homolog B, gamma-secretase subunit
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:33589840
NCBI chr15:63,277,605...63,309,126
Ensembl chr15:63,276,018...63,309,126
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APLP2
amyloid beta precursor like protein 2
ISO
RGD
PMID:8086458
RGD:734582
NCBI chr11:130,069,894...130,144,805
Ensembl chr11:130,068,147...130,144,811
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APOA1
apolipoprotein A1
resistance
IMP IEP
DNA: : :transgenic model
RGD
PMID:20847045 PMID:19863188
RGD:5508212 , RGD:5508218
NCBI chr11:116,835,751...116,837,622
Ensembl chr11:116,835,751...116,837,622
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APOA4
apolipoprotein A4
no_association
ISO IAGP
DNA:missense mutation:cds:p.Q360H (human) DNA:snp, haplotype:cds:p.S147N (rs5104) (human)
RGD
PMID:21356380 PMID:10559562 PMID:9272683 PMID:16013913
RGD:5685638 , RGD:5685682 , RGD:5685681 , RGD:5685661
NCBI chr11:116,820,700...116,823,304
Ensembl chr11:116,820,700...116,823,304
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APOC1
apolipoprotein C1
IAGP EXP
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:29107063 PMID:30319691 PMID:11825674
RGD:1578472
NCBI chr19:44,914,325...44,919,346
Ensembl chr19:44,914,247...44,919,349
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APOD
apolipoprotein D
IEP
protein:increased expression:cerebrospinal fluid, hippocampus
RGD
PMID:9751198
RGD:2311209
NCBI chr 3:195,568,705...195,583,940
Ensembl chr 3:195,568,705...195,584,033
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APOE
apolipoprotein E
susceptibility treatment no_association
IEA IAGP EXP ISO IEP
ClinVar Annotator: match by term: Alzheimer disease, early onset DNA:SNP: :APOEe4(human) CTD Direct Evidence: marker/mechanism DNA:polymorphism:promoter:-491A>T,-427T>C(human) protein:increased expression:hippocampus, synapse (rat) protein:increased expression:parietal cortex, synapse (human) DNA:missense mutations, haplotype:cds:p.C112R, (rs7412) (human)
ClinVar CTD RGD
PMID:2987927 PMID:3353383 PMID:3922972 PMID:7263700 PMID:8294487 PMID:8346443 PMID:8350998 PMID:8618665 PMID:8644717 PMID:9343467 PMID:9932938 PMID:10213549 PMID:10799751 PMID:11835377 PMID:11940689 PMID:11940706 PMID:14741101 PMID:15048896 PMID:15146461 PMID:15184602 PMID:15326261 PMID:15557508 PMID:15668424 PMID:18338393 PMID:18979180 PMID:18987351 PMID:19605830 PMID:19734902 PMID:19846850 PMID:20819998 PMID:21742527 PMID:22381401 PMID:23060451 PMID:23296339 PMID:23571587 PMID:24033266 PMID:24162737 PMID:24473795 PMID:25741868 PMID:27023435 PMID:27260402 PMID:29107063 PMID:29842932 PMID:30319691 PMID:30320580 PMID:32376954 PMID:15118671 PMID:20574532 PMID:20088507 PMID:18057979 PMID:22020632 PMID:22020632 PMID:10027549 More...
RGD:1331525 , RGD:10427727 , RGD:12904712 , RGD:7771594 , RGD:6903910 , RGD:6903910 , RGD:6903233
NCBI chr19:44,905,796...44,909,393
Ensembl chr19:44,905,791...44,909,393
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APP
amyloid beta precursor protein
susceptibility treatment
IAGP ISS EXP IMP IEP ISO
ClinVar Annotator: match by term: Alzheimer disease | ClinVar Annotator: match by term: Alzheimer disease, early onset ClinVar Annotator: match by term: Alzheimer disease | ClinVar Annotator: match by term: Early-Onset Familial Alzheimer Disease ClinVar Annotator: match by term: Alzheimer's disease ClinVar Annotator: match by term: Alzheimer disease, protection against CTD Direct Evidence: marker/mechanism human transgene in rat model protein:increased expression:platelet associated with hypertension DNA:mutation:p.D678N (human) protein:increased expression:cerebral spinal fluid fluid,brain: protein:decreased expression:cerebrospinal fluid:
ClinVar MouseDO CTD RGD
PMID:1303172 PMID:1303239 PMID:1303275 PMID:1307241 PMID:1415269 PMID:1497677 PMID:1520398 PMID:1634237 PMID:1671712 PMID:1674311 PMID:1678057 PMID:1678058 PMID:1679288 PMID:1679289 PMID:1908231 PMID:1925564 PMID:2111584 PMID:7611715 PMID:7633445 PMID:7686976 PMID:7806491 PMID:7845465 PMID:8154870 PMID:8191290 PMID:8290965 PMID:8291572 PMID:8410047 PMID:8499923 PMID:8513318 PMID:8577393 PMID:8610157 PMID:8649577 PMID:8863158 PMID:8886002 PMID:9328472 PMID:9536098 PMID:9754958 PMID:9848098 PMID:10097173 PMID:10441572 PMID:10611368 PMID:10631141 PMID:10821838 PMID:11004129 PMID:11063718 PMID:11311152 PMID:11409420 PMID:11441013 PMID:11487570 PMID:11528419 PMID:11568920 PMID:11735772 PMID:11910111 PMID:11978821 PMID:12034808 PMID:12192006 PMID:12392798 PMID:12552037 PMID:12572668 PMID:12654973 PMID:12707272 PMID:12746438 PMID:12852432 PMID:14623725 PMID:14769392 PMID:15365148 PMID:15488330 PMID:15502844 PMID:15590663 PMID:15591071 PMID:15776278 PMID:15993441 PMID:16033913 PMID:16199547 PMID:16204253 PMID:16266835 PMID:16325427 PMID:16369530 PMID:16492752 PMID:16651627 PMID:16921174 PMID:16931535 PMID:16969627 PMID:17239395 PMID:17430250 PMID:17576681 PMID:17873282 PMID:18187157 PMID:18234110 PMID:18413473 PMID:18437002 PMID:18583042 PMID:18667258 PMID:19061884 PMID:19281847 PMID:19286555 PMID:19363265 PMID:19818510 PMID:20111991 PMID:20157255 PMID:20228223 PMID:20301414 PMID:20452985 PMID:20523046 PMID:20640797 PMID:21157020 PMID:21209907 PMID:21210284 PMID:21980910 PMID:22312439 PMID:22491860 PMID:22503161 PMID:22507317 PMID:22801501 PMID:23143229 PMID:23224319 PMID:23515184 PMID:23827522 PMID:23919771 PMID:24033266 PMID:24117942 PMID:24278680 PMID:24390130 PMID:24524897 PMID:24650794 PMID:24677022 PMID:24680827 PMID:24691562 PMID:24694184 PMID:24878480 PMID:25104557 PMID:25138979 PMID:25174650 PMID:25352456 PMID:25604855 PMID:25617006 PMID:25714973 PMID:25741868 PMID:25948718 PMID:26104569 PMID:26242991 PMID:26402770 PMID:26467025 PMID:26803359 PMID:27000221 PMID:27117003 PMID:27312774 PMID:27567873 PMID:27838006 PMID:27858710 PMID:28106563 PMID:28304299 PMID:28350801 PMID:28448946 PMID:28492532 PMID:28985224 PMID:29263818 PMID:29420472 PMID:29455155 PMID:29459625 PMID:29692703 PMID:29859640 PMID:30114415 PMID:30279455 PMID:30320580 PMID:30868685 PMID:31011484 PMID:31557888 PMID:31719132 PMID:31836585 PMID:31914229 PMID:31937505 PMID:32087291 PMID:32317127 PMID:32345996 PMID:32775599 PMID:32908482 PMID:32917274 PMID:33268848 PMID:33445953 PMID:33601107 PMID:35861376 PMID:35873773 PMID:36133075 PMID:38137339 PMID:16369530 PMID:17506994 PMID:15907478 PMID:30066400 PMID:29174383 PMID:29568075 PMID:29641600 PMID:15201367 PMID:11520987 PMID:11526104 PMID:1677459 More...
RGD:1599199 , RGD:2290385 , RGD:1358533 , RGD:13782183 , RGD:13782049 , RGD:13782047 , RGD:13782044 , RGD:10054280 , RGD:1302530 , RGD:10054258 , RGD:10054257
NCBI chr21:25,880,550...26,171,128
Ensembl chr21:25,880,535...26,171,128
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APP-DT
APP divergent transcript
IAGP
ClinVar Annotator: match by term: Alzheimer disease
ClinVar
PMID:25741868 PMID:28492532
NCBI chr21:26,170,867...26,217,384
Ensembl chr21:26,170,871...26,217,381
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AQP4
aquaporin 4
IEP
RGD
PMID:21107133
RGD:5148012
NCBI chr18:26,852,038...26,865,803
Ensembl chr18:26,852,043...26,865,771
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ARC
activity regulated cytoskeleton associated protein
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:18503570
NCBI chr 8:142,611,049...142,614,479
Ensembl chr 8:142,611,049...142,614,479
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ASS1
argininosuccinate synthase 1
IEP
protein:increased expression:brain, glial cell (human)
RGD
PMID:11556547
RGD:4139898
NCBI chr 9:130,444,707...130,501,274
Ensembl chr 9:130,444,961...130,501,274
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ATF2
activating transcription factor 2
IEP
RGD
PMID:9138733 PMID:15878807
RGD:10047399 , RGD:10047400
NCBI chr 2:175,072,259...175,168,203
Ensembl chr 2:175,072,250...175,168,382
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ATM
ATM serine/threonine kinase
disease_progression
IEP
RGD
PMID:23861893
RGD:10047419
NCBI chr11:108,223,067...108,369,102
Ensembl chr11:108,222,804...108,369,102
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ATP5F1A
ATP synthase F1 subunit alpha
treatment onset
EXP ISO
CTD Direct Evidence: marker/mechanism protein:increased modification:inferior parietal cortex (human)
CTD RGD
PMID:19374891 PMID:25561935 PMID:19374891
RGD:13703056 , RGD:13703046
NCBI chr18:46,080,248...46,104,227
Ensembl chr18:46,080,248...46,104,334
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ATP5F1D
ATP synthase F1 subunit delta
IEP
RGD
PMID:28474567
RGD:13792588
NCBI chr19:1,241,751...1,244,825
Ensembl chr19:1,241,746...1,244,825
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ATP5MG
ATP synthase membrane subunit g
IEP
RGD
PMID:28474567
RGD:13792588
NCBI chr11:118,401,606...118,409,847
Ensembl chr11:118,401,346...118,433,278
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ATP5PF
ATP synthase peripheral stalk subunit F6
IAGP
ClinVar Annotator: match by term: Alzheimer disease
ClinVar
PMID:16369530 PMID:16921174 PMID:24691562 PMID:25741868
NCBI chr21:25,724,500...25,735,653
Ensembl chr21:25,716,503...25,735,673
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ATP5PO
ATP synthase peripheral stalk subunit OSCP
treatment
ISO IEP
RGD
PMID:30266287 PMID:30266287
RGD:14696823 , RGD:14696823
NCBI chr21:33,903,453...33,915,804
Ensembl chr21:33,903,453...33,915,814
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ATP6V0E1
ATPase H+ transporting V0 subunit e1
ISO
RGD
PMID:23211594
RGD:10401913
NCBI chr 5:172,983,771...173,035,445
Ensembl chr 5:172,983,771...173,035,445
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ATP7A
ATPase copper transporting alpha
ISO
mRNA:decreased expression:pituitary gland, vascular plexus (rat)
RGD
PMID:20027333
RGD:8657017
NCBI chr X:77,910,693...78,050,395
Ensembl chr X:77,910,690...78,050,395
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ATR
ATR serine/threonine kinase
IEP
RGD
PMID:23861893
RGD:10047419
NCBI chr 3:142,449,235...142,578,733
Ensembl chr 3:142,449,007...142,578,733
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BACE1
beta-secretase 1
susceptibility treatment
IAGP ISO EXP
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16407166 PMID:12824768 PMID:28763060 PMID:29038004
RGD:1358439 , RGD:13782083 , RGD:13782077
NCBI chr11:117,285,698...117,316,256
Ensembl chr11:117,285,232...117,316,259
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BACE1-AS
BACE1 antisense RNA
IEP
RNA:increased expression:plasma
RGD
PMID:29316899
RGD:13782076
NCBI chr11:117,291,346...117,292,170
Ensembl chr11:117,288,453...117,293,494
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BACE2
beta-secretase 2
susceptibility
IEP IAGP
mRNA,protein:increased expression:gyrus: DNA:SNP,haplotype:exon:
RGD
PMID:22074738 PMID:16023140
RGD:13782172 , RGD:13782180
NCBI chr21:41,168,160...41,282,530
Ensembl chr21:41,167,801...41,282,530
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BAD
BCL2 associated agonist of cell death
treatment
ISO IEP
protein:increased expression:temporal cortex, membrane
RGD
PMID:15339646 PMID:9507158
RGD:10053639 , RGD:10053642
NCBI chr11:64,269,828...64,284,704
Ensembl chr11:64,269,830...64,284,704
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BAIAP2
BAR/IMD domain containing adaptor protein 2
IEP
protein:decreased expression:cerebral cortex, postsynaptic density (human)
RGD
PMID:23537733
RGD:11576299
NCBI chr17:81,035,151...81,117,434
Ensembl chr17:81,035,122...81,117,434
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BAK1
BCL2 antagonist/killer 1
IEP
protein:increased expression:temporal cortex, membrane
RGD
PMID:9507158
RGD:10053642
NCBI chr 6:33,572,552...33,580,276
Ensembl chr 6:33,572,547...33,580,293
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BARHL1
BarH like homeobox 1
IEP
protein:decreased expression:brain
RGD
PMID:28956815
RGD:14390165
NCBI chr 9:132,582,606...132,590,252
Ensembl chr 9:132,582,606...132,590,252
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BAX
BCL2 associated X, apoptosis regulator
treatment
ISO EXP IEP
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:18077176 PMID:17639989 PMID:29587274 PMID:29777699 PMID:21585051 PMID:16265626 PMID:8990132 More...
RGD:2293073 , RGD:13782188 , RGD:13782186 , RGD:10054049 , RGD:10054047 , RGD:10054039
NCBI chr19:48,954,875...48,961,798
Ensembl chr19:48,954,815...48,961,798
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BCAN
brevican
ISO
protein:altered modification:brain
RGD
PMID:20180882
RGD:14392785
NCBI chr 1:156,642,117...156,659,528
Ensembl chr 1:156,641,390...156,659,532
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BCHE
butyrylcholinesterase
severity
IAGP EXP IEP
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:23022600 PMID:22012848 PMID:16973370
RGD:5687327 , RGD:5688056
NCBI chr 3:165,772,904...165,837,423
Ensembl chr 3:165,772,904...165,837,462
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BCL2
BCL2 apoptosis regulator
treatment
ISO EXP IEP
CTD Direct Evidence: marker/mechanism protein:increased expression:temporal cortex, membrane
CTD RGD
PMID:18077176 PMID:17639989 PMID:29587274 PMID:29777699 PMID:26897372 PMID:21585051 PMID:16265626 PMID:9507158 More...
RGD:2293073 , RGD:13782188 , RGD:13782186 , RGD:11522767 , RGD:10054049 , RGD:10054047 , RGD:10053642
NCBI chr18:63,123,346...63,320,090
Ensembl chr18:63,123,346...63,320,128
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BCL2L1
BCL2 like 1
IEP
protein:increased expression:temporal cortex, membrane
RGD
PMID:9507158
RGD:10053642
NCBI chr20:31,664,452...31,723,963
Ensembl chr20:31,664,452...31,723,989
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BCL2L2
BCL2 like 2
treatment
IEP ISO
protein:increased expression:hippocampus, cortex
RGD
PMID:15147516 PMID:20460763
RGD:14394419 , RGD:14394421
NCBI chr14:23,306,833...23,311,751
Ensembl chr14:23,298,790...23,311,751
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BDNF
brain derived neurotrophic factor
treatment no_association onset
ISO EXP IAGP IEP IEA
CTD Direct Evidence: marker/mechanism DNA:polymorphisms: :196G>A (p.V66M), 270C>T (human) DNA:polymorphisms, haplotypes: :196G>A (p.V66M), 270C>T, 11757G>C (human) DNA:polymorphism: :p.V66M (human) protein:decreased expression:parietal cortex DNA:SNP:CDS:rs1048218 (human)
CTD RGD
PMID:17344400 PMID:20646587 PMID:30776009 PMID:24877042 PMID:16565926 PMID:23215636 PMID:16627933 PMID:12654514 PMID:18780967 PMID:15118671 More...
RGD:4891131 , RGD:405850256 , RGD:10059402 , RGD:10059346 , RGD:10059345 , RGD:10059343 , RGD:10058980 , RGD:5508228 , RGD:1331525
NCBI chr11:27,654,893...27,722,030
Ensembl chr11:27,654,893...27,722,058
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BECN1
beclin 1
IEP ISO
protein:decreased expression:gray matter
RGD
PMID:18497889 PMID:20863706
RGD:6483101 , RGD:6483102
NCBI chr17:42,810,132...42,824,282
Ensembl chr17:42,810,134...42,833,350
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BIN1
bridging integrator 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:21460841 PMID:33589840
NCBI chr 2:127,048,023...127,107,154
Ensembl chr 2:127,048,027...127,107,288
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BMP4
bone morphogenetic protein 4
ISO
RGD
PMID:19463786
RGD:10414082
NCBI chr14:53,949,736...53,956,891
Ensembl chr14:53,949,736...53,958,761
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BPTF
bromodomain PHD finger transcription factor
IEP
protein:increased expression:microglia:
RGD
PMID:9792236
RGD:9586059
NCBI chr17:67,825,503...67,984,378
Ensembl chr17:67,825,503...67,984,378
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BRIP1
BRCA1 interacting DNA helicase 1
IEP
associated with Down Syndrome;protein:increased ubiquitination:frontal cortex (human)
RGD
PMID:25391381
RGD:11252150
NCBI chr17:61,679,139...61,863,528
Ensembl chr17:61,679,139...61,863,559
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BTG3
BTG anti-proliferation factor 3
IAGP
ClinVar Annotator: match by term: Alzheimer disease
ClinVar
PMID:16369530 PMID:16921174 PMID:24691562
NCBI chr21:17,593,653...17,612,901
Ensembl chr21:17,593,653...17,612,945
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C10orf55
chromosome 10 putative open reading frame 55
IAGP
ClinVar Annotator: match by term: Alzheimer disease, late-onset, susceptibility to
ClinVar
PMID:12898287 PMID:15615772 PMID:15616835 PMID:16341549 PMID:28492532
NCBI chr10:73,909,969...73,922,777
Ensembl chr10:73,908,103...73,922,810
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C1QB
complement C1q B chain
IEP
mRNA:increased expression:microglial cell
RGD
PMID:1362796
RGD:1599518
NCBI chr 1:22,653,236...22,661,637
Ensembl chr 1:22,652,762...22,661,637
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C2
complement C2
IAGP
DNA:SNP, haplotype: :p.E318D (rs9332739) (human)
RGD
PMID:22300950
RGD:7401250
NCBI chr 6:31,897,783...31,945,672
Ensembl chr 6:31,897,785...31,945,673
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C21orf91
chromosome 21 open reading frame 91
IAGP
ClinVar Annotator: match by term: Alzheimer disease
ClinVar
PMID:16369530 PMID:16921174 PMID:24691562
NCBI chr21:17,788,974...17,819,356
Ensembl chr21:17,788,974...17,819,386
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C3
complement C3
IAGP
DNA:SNP: :rs22300199 (human)
RGD
PMID:22300950
RGD:7401250
NCBI chr19:6,677,704...6,720,650
Ensembl chr19:6,677,704...6,730,562
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C5AR1
complement C5a receptor 1
IEP
protein:decreased expression:brain
RGD
PMID:12759460
RGD:5130177
NCBI chr19:47,307,477...47,322,066
Ensembl chr19:47,290,023...47,322,066
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CACNA1C
calcium voltage-gated channel subunit alpha1 C
ISO
protein:decreased expression:brain
RGD
PMID:23403102
RGD:13782264
NCBI chr12:1,970,780...2,697,950
Ensembl chr12:1,970,772...2,697,950
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CALM1
calmodulin 1
EXP IEP
CTD Direct Evidence: marker/mechanism protein:decreased expression:cerebellar cortex:
CTD RGD
PMID:11470324 PMID:11470324
RGD:13792493
NCBI chr14:90,396,502...90,408,268
Ensembl chr14:90,396,502...90,408,268
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CALML5
calmodulin like 5
IEP
protein:altered expression:neuron,glia
RGD
PMID:11470324
RGD:13792493
NCBI chr10:5,498,697...5,499,570
Ensembl chr10:5,498,697...5,499,570
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CAMK2A
calcium/calmodulin dependent protein kinase II alpha
IEP
RGD
PMID:15621017
RGD:13681926
NCBI chr 5:150,219,491...150,290,130
Ensembl chr 5:150,219,491...150,290,093
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CAPN1
calpain 1
onset
IEP
protein:increased activity:brain:
RGD
PMID:8622780 PMID:11231011
RGD:13792495 , RGD:13792663
NCBI chr11:65,181,373...65,212,006
Ensembl chr11:65,180,566...65,212,006
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CAPN2
calpain 2
IEP
protein:increased expression:cytosol
RGD
PMID:9654354
RGD:13792661
NCBI chr 1:223,701,597...223,776,018
Ensembl chr 1:223,701,593...223,776,018
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CASP1
caspase 1
IEP
RGD
PMID:12633148
RGD:13782269
NCBI chr11:105,025,443...105,036,686
Ensembl chr11:105,025,397...105,035,250
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CASP12
caspase 12 (gene/pseudogene)
treatment
ISO
RGD
PMID:29126976
RGD:13782165
NCBI chr11:104,883,286...104,898,460
Ensembl chr11:104,885,718...104,898,670
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CASP2
caspase 2
IEP
RGD
PMID:12633148
RGD:13782269
NCBI chr 7:143,288,351...143,307,696
Ensembl chr 7:143,288,215...143,307,696
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CASP3
caspase 3
treatment
IEP ISO EXP
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:18077176 PMID:10319819 PMID:29642617 PMID:12633148 PMID:29587274 PMID:29777699 More...
RGD:734692 , RGD:13782291 , RGD:13782269 , RGD:13782188 , RGD:13782186
NCBI chr 4:184,627,696...184,649,447
Ensembl chr 4:184,627,696...184,650,062
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CASP5
caspase 5
IEP
RGD
PMID:12633148
RGD:13782269
NCBI chr11:104,994,243...105,023,168
Ensembl chr11:104,994,235...105,023,168
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CASP6
caspase 6
IEP
RGD
PMID:12633148
RGD:13782269
NCBI chr 4:109,664,388...109,709,767
Ensembl chr 4:109,688,622...109,703,583
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CASP7
caspase 7
IAGP IEP
DNA:SNPs, haplotype
RGD
PMID:26621834 PMID:12633148
RGD:11344490 , RGD:13782269
NCBI chr10:113,679,194...113,730,909
Ensembl chr10:113,679,162...113,730,907
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CASP8
caspase 8
treatment
IEP ISO
RGD
PMID:16772874 PMID:29642617 PMID:12633148
RGD:13782268 , RGD:13782291 , RGD:13782269
NCBI chr 2:201,233,463...201,287,711
Ensembl chr 2:201,233,443...201,361,836
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CASP9
caspase 9
treatment
ISO IEP
RGD
PMID:29777699 PMID:12633148
RGD:13782186 , RGD:13782269
NCBI chr 1:15,491,401...15,524,912
Ensembl chr 1:15,490,832...15,526,534
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CASS4
Cas scaffold protein family member 4
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:30320580 PMID:33589840
NCBI chr20:56,412,036...56,460,382
Ensembl chr20:56,412,112...56,460,387
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CAST
calpastatin
ISO IEP
protein:decreased expression:brain
RGD
PMID:20595388 PMID:19020018
RGD:5509799 , RGD:5509809
NCBI chr 5:95,961,429...96,774,683
Ensembl chr 5:96,247,756...96,779,595 Ensembl chr 5:96,247,756...96,779,595
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CAV1
caveolin 1
ISS
OMIM:104300 | OMIM:502500 | OMIM:604154 | OMIM:608907
MouseDO
NCBI chr 7:116,525,009...116,561,185
Ensembl chr 7:116,524,994...116,561,179
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CCDC6
coiled-coil domain containing 6
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:33589840
NCBI chr10:59,788,747...59,906,556
Ensembl chr10:59,788,747...59,906,556
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CCL5
C-C motif chemokine ligand 5
IEP
mRNA:increased expression:cerebrum, blood vessels (human)
RGD
PMID:18440671
RGD:4890025
NCBI chr17:35,871,491...35,880,360
Ensembl chr17:35,871,491...35,880,793
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CCNG1
cyclin G1
IEP
protein:increased expression:brain, neuron
RGD
PMID:12214116
RGD:2316025
NCBI chr 5:163,437,571...163,457,640
Ensembl chr 5:163,437,569...163,448,199
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CCR1
C-C motif chemokine receptor 1
severity
IEP
RGD
PMID:14595653
RGD:5688166
NCBI chr 3:46,201,711...46,208,313
Ensembl chr 3:46,201,711...46,208,313
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CCR5
C-C motif chemokine receptor 5
IEP ISO
protein:increased expression:brain, microglia (human)
RGD
PMID:9665462 PMID:15979806
RGD:4890447 , RGD:4890446
NCBI chr 3:46,370,142...46,376,206
Ensembl chr 3:46,370,946...46,376,206
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CD2AP
CD2 associated protein
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:21460840 PMID:21460841 PMID:30320580
NCBI chr 6:47,477,789...47,627,263
Ensembl chr 6:47,477,789...47,627,263
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CD33
CD33 molecule
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:21460840 PMID:21460841
NCBI chr19:51,211,076...51,240,016
Ensembl chr19:51,225,064...51,243,860
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CD36
CD36 molecule (CD36 blood group)
IEP
RGD
PMID:16563568
RGD:6893531
NCBI chr 7:80,602,207...80,679,274
Ensembl chr 7:80,369,575...80,679,277
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CD40
CD40 molecule
ISO
RGD
PMID:21414686
RGD:5490302
NCBI chr20:46,118,314...46,129,858
Ensembl chr20:46,118,271...46,129,863
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CD40LG
CD40 ligand
IEP ISO
protein:increased expression:frontal cortex, astrocyte
RGD
PMID:11755016 PMID:11755016
RGD:8547803 , RGD:8547803
NCBI chr X:136,648,158...136,660,390
Ensembl chr X:136,648,158...136,660,390
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CDC42
cell division cycle 42
IEP
RGD
PMID:10817927
RGD:5688277
NCBI chr 1:22,052,709...22,101,360
Ensembl chr 1:22,052,627...22,101,360
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CDK5
cyclin dependent kinase 5
treatment
ISO IAGP
DNA:SNP:intron:g.149800G>C (human)
RGD
PMID:28269780 PMID:28085018 PMID:15917097
RGD:13508590 , RGD:13792587 , RGD:13782365
NCBI chr 7:151,053,815...151,057,897
Ensembl chr 7:151,053,815...151,057,897
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CDK5R1
cyclin dependent kinase 5 regulatory subunit 1
IEP IAGP ISO
DNA:SNP:3' UTR:rs735555 (human)
RGD
PMID:28578378 PMID:19154537 PMID:24725413
RGD:13782362 , RGD:13782364 , RGD:13782363
NCBI chr17:32,486,993...32,491,253
Ensembl chr17:32,486,993...32,491,253
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CDK7
cyclin dependent kinase 7
IEP
protein:increased expression:neuron:
RGD
PMID:11124424
RGD:10059352
NCBI chr 5:69,234,795...69,277,430
Ensembl chr 5:69,234,795...69,277,430
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CEBPA
CCAAT enhancer binding protein alpha
ISO IEP
protein:decreased expression:forebrain, hindbrain (mouse) mRNA:increased expression:hippocampus (human)
RGD
PMID:21492414 PMID:14769913
RGD:10401190 , RGD:10401224
NCBI chr19:33,299,934...33,302,534
Ensembl chr19:33,299,934...33,302,534
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CEBPB
CCAAT enhancer binding protein beta
treatment
IEP ISO
mRNA:increased expression:hippocampus CA1 (human)
RGD
PMID:12391607 PMID:23911420
RGD:10401229 , RGD:10401268
NCBI chr20:50,190,583...50,192,690
Ensembl chr20:50,190,734...50,192,690
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CFTR
CF transmembrane conductance regulator
IEP
protein:decreased expression:hypothalamus
RGD
PMID:14757935
RGD:11566025
NCBI chr 7:117,480,025...117,668,665
Ensembl chr 7:117,287,120...117,715,971
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CHAT
choline O-acetyltransferase
ISO IAGP
DNA:polymorphism:CDS:4G>A
RGD
PMID:16834974 PMID:12401548
RGD:1600851 , RGD:1358495
NCBI chr10:49,609,095...49,667,942
Ensembl chr10:49,609,095...49,667,942
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CHODL
chondrolectin
IAGP
ClinVar Annotator: match by term: Alzheimer disease
ClinVar
PMID:16369530 PMID:16921174 PMID:24691562
NCBI chr21:17,917,340...18,267,370
Ensembl chr21:17,901,263...18,267,373
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CHRNA4
cholinergic receptor nicotinic alpha 4 subunit
IEP
RGD
PMID:15465084
RGD:1358509
NCBI chr20:63,343,223...63,361,349
Ensembl chr20:63,343,223...63,378,401
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CHRNA7
cholinergic receptor nicotinic alpha 7 subunit
IEP EXP
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:18071042 PMID:15465084
RGD:1358509
NCBI chr15:32,030,483...32,173,018
Ensembl chr15:31,923,438...32,173,018
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CHRNB2
cholinergic receptor nicotinic beta 2 subunit
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:17192785
NCBI chr 1:154,567,778...154,580,013
Ensembl chr 1:154,567,778...154,580,013
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CIB1
calcium and integrin binding 1
ISO
protein:decreased expression:brain (human)
RGD
PMID:15885068
RGD:10401854
NCBI chr15:90,229,975...90,265,759
Ensembl chr15:90,229,975...90,234,047
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CLOCK
clock circadian regulator
susceptibility
IAGP
DNA:snp:intron:c.982+247G>C (rs1554483) (human) DNA:snp:3' utr:c.3111T>C (human) DNA:snp:intron:c.560-1279C>G (rs4580704) (human)
RGD
PMID:23781009 PMID:23912676 PMID:23357097
RGD:10401861 , RGD:10401872 , RGD:10401862
NCBI chr 4:55,427,903...55,546,909
Ensembl chr 4:55,427,903...55,546,909
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CLU
clusterin
IEP IAGP EXP
ClinVar Annotator: match by term: Alzheimer disease CTD Direct Evidence: marker/mechanism
ClinVar CTD RGD
PMID:19734902 PMID:19734903 PMID:21460841 PMID:28492532 PMID:29476165 PMID:9560017 More...
RGD:8903235
NCBI chr 8:27,596,917...27,614,700
Ensembl chr 8:27,596,917...27,614,700
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CNP
2',3'-cyclic nucleotide 3' phosphodiesterase
ISO
RGD
PMID:21918687
RGD:6483333
NCBI chr17:41,966,795...41,977,740
Ensembl chr17:41,966,763...41,977,740
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COX7C
cytochrome c oxidase subunit 7C
IEP
RGD
PMID:28474567
RGD:13792588
NCBI chr 5:86,617,941...86,620,962
Ensembl chr 5:86,617,928...86,620,962
G
CR1
complement C3b/C4b receptor 1 (Knops blood group)
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:19734903 PMID:21460841
NCBI chr 1:207,496,157...207,641,765
Ensembl chr 1:207,496,147...207,641,765
G
CREBBP
CREB binding protein
treatment
ISO
protein:increased phosphorylation:hippocampus:
RGD
PMID:21149712 PMID:17760871
RGD:10059608 , RGD:10059609
NCBI chr16:3,725,054...3,880,713
Ensembl chr16:3,725,054...3,880,713
G
CRH
corticotropin releasing hormone
IEP EXP
protein:decreased expression:cerebral cortex (human) CTD Direct Evidence: therapeutic
CTD RGD
PMID:7477348 PMID:7477348
RGD:5508831
NCBI chr 8:66,176,376...66,178,464
Ensembl chr 8:66,176,376...66,178,464
G
CRP
C-reactive protein
ISO
RGD
PMID:22202667
RGD:6904208
NCBI chr 1:159,712,289...159,714,589
Ensembl chr 1:159,712,289...159,714,589
G
CSF1R
colony stimulating factor 1 receptor
IAGP
ClinVar Annotator: match by term: Alzheimer disease
ClinVar
PMID:30279455
NCBI chr 5:150,053,295...150,113,365
Ensembl chr 5:150,053,291...150,113,372
G
CSNK1A1
casein kinase 1 alpha 1
IEP
protein:increased expression:CA1 field of hippocampus:
RGD
PMID:10514399
RGD:10395229
NCBI chr 5:149,492,982...149,551,439
Ensembl chr 5:149,492,982...149,551,471
G
CSNK1D
casein kinase 1 delta
severity
IEP
protein:increased expression:CA1 field of hippocampus: mRNA,protein:increased expression:brain:
RGD
PMID:10514399 PMID:10814741
RGD:10395229 , RGD:10395230
NCBI chr17:82,239,019...82,273,750
Ensembl chr17:82,239,023...82,273,700
G
CSNK1E
casein kinase 1 epsilon
IEP
protein:increased expression:CA1 field of hippocampus:
RGD
PMID:10514399
RGD:10395229
NCBI chr22:38,290,691...38,318,084
Ensembl chr22:38,290,691...38,318,084
G
CST3
cystatin C
susceptibility
IEP EXP
protein:decreased expression:serum (human) protein:increased expression:plasma CTD Direct Evidence: marker/mechanism|therapeutic
CTD RGD
PMID:17192785 PMID:18026100 PMID:18824671 PMID:15907478
RGD:2314333 , RGD:1358533
NCBI chr20:23,626,706...23,637,955
Ensembl chr20:23,626,706...23,638,473
G
CTNNB1
catenin beta 1
treatment
IEP ISO
protein:increased expression:neuron,cytoplasm: protein:decreased expression:hippocampus protein:decreased expression:nucleus:
RGD
PMID:15781969 PMID:12610652 PMID:11226152
RGD:10395258 , RGD:10395276 , RGD:1302533
NCBI chr 3:41,199,505...41,240,443
Ensembl chr 3:41,194,741...41,260,096
G
CTSD
cathepsin D
IAGP IEP
protein:decreased expression:lymphocyte:
RGD
PMID:11304834 PMID:15907478
RGD:1358532 , RGD:1358533
NCBI chr11:1,752,755...1,763,927
Ensembl chr11:1,752,752...1,764,573
G
CTSS
cathepsin S
IEP
RGD
PMID:7717452
RGD:5686914
NCBI chr 1:150,730,188...150,765,778
Ensembl chr 1:150,730,079...150,765,957
G
CXADR
CXADR Ig-like cell adhesion molecule
IAGP
ClinVar Annotator: match by term: Alzheimer disease
ClinVar
PMID:16369530 PMID:16921174 PMID:24691562
NCBI chr21:17,513,043...17,636,262
Ensembl chr21:17,513,043...17,593,579
G
CYP19A1
cytochrome P450 family 19 subfamily A member 1
IEP IAGP
mRNA:altered expression:cerebellum, hippocampus (human) DNA:polymorphism
RGD
PMID:18180323 PMID:16882736
RGD:4889108 , RGD:1600861
NCBI chr15:51,208,057...51,338,596
Ensembl chr15:51,208,057...51,338,601
G
CYP2D6
cytochrome P450 family 2 subfamily D member 6 (gene/pseudogene)
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:7574463
NCBI chr22:42,126,499...42,130,810
Ensembl chr22:42,126,499...42,130,865
G
CYP46A1
cytochrome P450 family 46 subfamily A member 1
IAGP EXP
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:19286353 PMID:12232784
RGD:1358575
NCBI chr14:99,684,298...99,727,301
Ensembl chr14:99,684,298...99,727,301
G
CYYR1
cysteine and tyrosine rich 1
IAGP
ClinVar Annotator: match by term: Alzheimer disease
ClinVar
PMID:16369530 PMID:16921174 PMID:24691562 PMID:25741868
NCBI chr21:26,466,216...26,573,286
Ensembl chr21:26,466,209...26,573,286
G
DBN1
drebrin 1
disease_progression
IEP ISO
protein:decreased expression:hippocampal formation: mRNA:decreased expression:parietal cortex, temporal cortex, hippocampus: protein:decreased expression:hippocampus,neuronal spine:
RGD
PMID:8838578 PMID:18338803 PMID:17912741
RGD:10395286 , RGD:10398821 , RGD:10398820
NCBI chr 5:177,456,610...177,473,634
Ensembl chr 5:177,456,608...177,474,401
G
DDR1
discoidin domain receptor tyrosine kinase 1
treatment
ISO
RGD
PMID:28863860
RGD:150519888
NCBI chr 6:30,880,970...30,900,156
Ensembl chr 6:30,876,421...30,900,156
G
DHCR24
24-dehydrocholesterol reductase
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:23042211
NCBI chr 1:54,849,627...54,887,195
Ensembl chr 1:54,849,627...54,887,195
G
DLG4
discs large MAGUK scaffold protein 4
IEP
RGD
PMID:24156266
RGD:13792688
NCBI chr17:7,187,187...7,220,050
Ensembl chr17:7,187,187...7,219,836
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DLST
dihydrolipoamide S-succinyltransferase
susceptibility
IAGP
DNA:polymorphisms: :
RGD
PMID:10227647
RGD:1358587
NCBI chr14:74,881,916...74,903,743
Ensembl chr14:74,881,891...74,903,743
G
DNM1
dynamin 1
IEP ISO
protein:decreased expression:hippocampus,entorhinal cortex: mRNA,protein:decreased expression:hippocampus, temporal cortex denntate gyrus, hippocampus, entorhinal cortex
RGD
PMID:20847448 PMID:20847448 PMID:20847448
RGD:13506238 , RGD:13506238 , RGD:13506238
NCBI chr 9:128,203,379...128,255,244
Ensembl chr 9:128,191,655...128,255,248
G
DNM1L
dynamin 1 like
IEP
protein:decreased expression:hippocampus (human)
RGD
PMID:19605646
RGD:7800727
NCBI chr12:32,679,301...32,745,650
Ensembl chr12:32,679,200...32,745,650
G
DPYSL2
dihydropyrimidinase like 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:19374891
NCBI chr 8:26,514,031...26,658,175
Ensembl chr 8:26,514,031...26,658,178
G
DRD1
dopamine receptor D1
IEP
protein:decreased expression:frontal cortex, neuron
RGD
PMID:17182012
RGD:5686412
NCBI chr 5:175,440,036...175,444,182
Ensembl chr 5:175,440,036...175,444,182
G
DRD2
dopamine receptor D2
IEP
protein:decreased expression:blood, lymphocyte
RGD
PMID:11087905
RGD:5686416
NCBI chr11:113,409,605...113,475,398
Ensembl chr11:113,409,605...113,475,691
G
DRD3
dopamine receptor D3
IEP
protein:decreased expression:frontal cortex, neuron
RGD
PMID:17182012
RGD:5686412
NCBI chr 3:114,127,580...114,199,407
Ensembl chr 3:114,127,580...114,199,407
G
DRD4
dopamine receptor D4
IEP
protein:decreased expression:frontal cortex, neuron
RGD
PMID:17182012
RGD:5686412
NCBI chr11:637,269...640,706
Ensembl chr11:637,269...640,706
G
DRD5
dopamine receptor D5
IEP
protein:increased expression:frontal cortex, neuron
RGD
PMID:17182012
RGD:5686412
NCBI chr 4:9,781,634...9,784,009
Ensembl chr 4:9,781,634...9,784,009
G
DYNC1H1
dynein cytoplasmic 1 heavy chain 1
IEP
protein:increased expression:brain
RGD
PMID:9402150
RGD:13207349
NCBI chr14:101,964,573...102,056,443
Ensembl chr14:101,964,573...102,056,443
G
E2F1
E2F transcription factor 1
IEP
protein:increased expression:cerebral cortex,cytoplasm:
RGD
PMID:11939591
RGD:10401093
NCBI chr20:33,675,477...33,686,385
Ensembl chr20:33,675,477...33,686,385
G
ECE1
endothelin converting enzyme 1
IAGP
RGD
PMID:15340356
RGD:1580902
NCBI chr 1:21,217,250...21,345,504
Ensembl chr 1:21,217,247...21,345,572
G
EEF1A2
eukaryotic translation elongation factor 1 alpha 2
IEP
protein:increased expression:CA1field of hippocampus:
RGD
PMID:8750861
RGD:10401216
NCBI chr20:63,488,014...63,499,083
Ensembl chr20:63,488,013...63,499,239
G
EEF2
eukaryotic translation elongation factor 2
IEP
protein:hyperphosphorylation:brain:
RGD
PMID:1331687
RGD:10401652
NCBI chr19:3,976,056...3,985,463
Ensembl chr19:3,976,056...3,985,463
G
EEF2K
eukaryotic elongation factor 2 kinase
IEP
RGD
PMID:16098202
RGD:10401651
NCBI chr16:22,206,278...22,288,738
Ensembl chr16:22,206,278...22,288,738
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EGF
epidermal growth factor
IEP
protein:decreased expression:platelet
RGD
PMID:21875409
RGD:10059680
NCBI chr 4:109,912,883...110,013,766
Ensembl chr 4:109,912,883...110,013,766
G
EGFR
epidermal growth factor receptor
treatment
ISO
RGD
PMID:23019586
RGD:10059684
NCBI chr 7:55,019,017...55,211,628
Ensembl chr 7:55,019,017...55,211,628
G
EGR1
early growth response 1
treatment
IEP ISO
protein:increased expression:temporal cortex, hippocampus (human)
RGD
PMID:21489990 PMID:23642031 PMID:21969301
RGD:5131647 , RGD:10395279 , RGD:10395277
NCBI chr 5:138,465,479...138,469,303
Ensembl chr 5:138,465,479...138,469,303
G
EIF2AK2
eukaryotic translation initiation factor 2 alpha kinase 2
ISO IDA
protein:increased threonine phosphorylation:hippocampus
RGD
PMID:24315369 PMID:15567511
RGD:10395344 , RGD:10395348
NCBI chr 2:37,099,210...37,156,980
Ensembl chr 2:37,099,210...37,157,522
G
EIF2S1
eukaryotic translation initiation factor 2 subunit alpha
severity
IDA EXP ISO IEP
CTD Direct Evidence: marker/mechanism protein:increased phosphorylation:hippocampus
CTD RGD
PMID:17406652 PMID:16691116 PMID:24315369 PMID:16954686
RGD:10395316 , RGD:10395344 , RGD:10395343
NCBI chr14:67,360,328...67,386,516
Ensembl chr14:67,360,328...67,386,516
G
ELK1
ETS transcription factor ELK1
IEP
RGD
PMID:20126313
RGD:7488914
NCBI chr X:47,635,520...47,650,604
Ensembl chr X:47,635,520...47,650,604
G
ENO1
enolase 1
EXP IDA
CTD Direct Evidence: marker/mechanism protein:increased S-glutathionylation, decreased activity:inferior parietal cortex
CTD RGD
PMID:19374891 PMID:17387692
RGD:13792613
NCBI chr 1:8,861,000...8,878,686
Ensembl chr 1:8,861,000...8,879,190
G
EP300
E1A binding protein p300
IEP
mRNA:increased expression:temporal cortex (human)
RGD
PMID:23585551
RGD:7327146
NCBI chr22:41,092,592...41,180,077
Ensembl chr22:41,092,510...41,180,077
G
EPHA1
EPH receptor A1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:21460840 PMID:21460841
NCBI chr 7:143,391,129...143,408,856
Ensembl chr 7:143,390,289...143,408,856
G
EPHA4
EPH receptor A4
IEP ISO
protein:decreased expression:hippocampus
RGD
PMID:19542617 PMID:19542617
RGD:6218956 , RGD:6218956
NCBI chr 2:221,418,027...221,574,202
Ensembl chr 2:221,418,027...221,574,202
G
EPHB2
EPH receptor B2
ameliorates
ISO
RGD
PMID:21113149
RGD:12859080
NCBI chr 1:22,710,838...22,921,500
Ensembl chr 1:22,710,839...22,921,500
G
EPHX1
epoxide hydrolase 1
IEP
protein:increased expression:hippocampus
RGD
PMID:16630050
RGD:5688388
NCBI chr 1:225,810,124...225,845,563
Ensembl chr 1:225,810,124...225,845,563
G
EPO
erythropoietin
treatment
IDA
RGD
PMID:22004348 PMID:23813967
RGD:10395389 , RGD:10400882
NCBI chr 7:100,720,468...100,723,700
Ensembl chr 7:100,720,468...100,723,700
G
EPOR
erythropoietin receptor
IEP
protein:increased expression:brain, astrocyte
RGD
PMID:17483696
RGD:10395387
NCBI chr19:11,377,207...11,384,314
Ensembl chr19:11,377,207...11,384,342
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ERCC2
ERCC excision repair 2, TFIIH core complex helicase subunit
IEP
protein:increased expression:brain
RGD
PMID:9714461
RGD:5688738
NCBI chr19:45,349,837...45,370,573
Ensembl chr19:45,349,837...45,370,918
G
ERCC3
ERCC excision repair 3, TFIIH core complex helicase subunit
IEP
protein:increased expression:brain
RGD
PMID:9714461
RGD:5688738
NCBI chr 2:127,257,290...127,294,144
Ensembl chr 2:127,257,290...127,294,166
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ESR1
estrogen receptor 1
IAGP EXP
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:17192785 PMID:10558867
RGD:1358612
NCBI chr 6:151,656,672...152,129,619
Ensembl chr 6:151,656,691...152,129,619
G
ESR2
estrogen receptor 2
susceptibility
IAGP IEP ISO
DNA:SNPs:3' utr: (rs4986938), (rs1255953) (human) DNA:snps:introns:IVS3-1880C>T, IVS4+1231C>T (rs1271573, rs1256043) (human) protein:decreased expression:choroid plexus mRNA:increased expression:cerebral cortex
RGD
PMID:17132983 PMID:15944651 PMID:15082146 PMID:15916731
RGD:5508768 , RGD:8693346 , RGD:5508784 , RGD:5508772
NCBI chr14:64,226,707...64,338,613
Ensembl chr14:64,084,232...64,338,112
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F2
coagulation factor II, thrombin
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:8333868
NCBI chr11:46,719,213...46,739,506
Ensembl chr11:46,719,196...46,739,506
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FABP3
fatty acid binding protein 3
IEP
protein:decreased expression:cerebral cortex (human)
RGD
PMID:15068254
RGD:1578460
NCBI chr 1:31,359,588...31,373,076
Ensembl chr 1:31,365,253...31,376,850
G
FADD
Fas associated via death domain
IEP
RGD
PMID:16085017
RGD:13782385
NCBI chr11:70,203,296...70,207,390
Ensembl chr11:70,203,296...70,207,390
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FAS
Fas cell surface death receptor
IEP IAGP
protein:increased expression:brain, plaque (human) DNA:snp:promoter:g.-670G>A (human)
RGD
PMID:12742739 PMID:11129341
RGD:8663481 , RGD:1358615
NCBI chr10:88,964,050...89,017,059
Ensembl chr10:88,953,813...89,029,605
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FGF1
fibroblast growth factor 1
IEP
RGD
PMID:20079650
RGD:5509878
NCBI chr 5:142,592,178...142,698,070
Ensembl chr 5:142,592,178...142,698,070
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FGFR1
fibroblast growth factor receptor 1
IEP
RGD
PMID:9748519
RGD:10402073
NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834
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FIS1
fission, mitochondrial 1
IEP
protein:increased expression:hippocampus (human)
RGD
PMID:19605646
RGD:7800727
NCBI chr 7:101,239,472...101,245,081
Ensembl chr 7:101,239,458...101,252,316
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FOXO3
forkhead box O3
IEP ISO
protein:increased expression:lymphoblast,nucleus: protein:increased expression:hippocampal neuron (mouse) mRNA:increased expression:brain: protein:altered expression:cortical neuron,nucleus:
RGD
PMID:23153928 PMID:28157684 PMID:23585551 PMID:23661003
RGD:10402185 , RGD:11061905 , RGD:7327146 , RGD:10402187
NCBI chr 6:108,559,825...108,684,774
Ensembl chr 6:108,559,835...108,684,774
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FXYD6
FXYD domain containing ion transport regulator 6
IEP
RGD
PMID:19760337
RGD:13801191
NCBI chr11:117,836,981...117,877,430
Ensembl chr11:117,836,976...117,877,486
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FYN
FYN proto-oncogene, Src family tyrosine kinase
IEP IAGP
protein:decreased expression:cerebral cortex, soluble fraction (human)
RGD
PMID:15708437 PMID:14999081
RGD:1358602 , RGD:1358600
NCBI chr 6:111,660,332...111,873,452
Ensembl chr 6:111,660,332...111,873,452
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GABPA
GA binding protein transcription factor subunit alpha
IAGP
ClinVar Annotator: match by term: Alzheimer disease
ClinVar
PMID:16369530 PMID:16921174 PMID:22491860 PMID:24691562 PMID:25741868 PMID:28492532 More...
NCBI chr21:25,734,972...25,772,460
Ensembl chr21:25,734,570...25,772,460
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GAPDH
glyceraldehyde-3-phosphate dehydrogenase
onset susceptibility
IAGP ISO IDA IEP
DNA:snps:5' utr, intron: (rs3741916, rs1060621) (human) protein:decreased activity:cerebral cortex, cerebellum protein:decreased activity:cerebral cortex, hippocampus protein:increased S-glutathionylation, decreased activity:inferior parietal cortex DNA:SNPs, haplotypes: :rs740850, rs1060620 (human) DNA:SNP:5' utr:rs3741916 (human)
RGD
PMID:15507493 PMID:17324518 PMID:17324518 PMID:17387692 PMID:18340469 PMID:20864222 PMID:28087189 More...
RGD:1358618 , RGD:13792614 , RGD:13792614 , RGD:13792613 , RGD:13792612 , RGD:13792611 , RGD:13792604
NCBI chr12:6,534,517...6,538,371
Ensembl chr12:6,534,512...6,538,374
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GAPDHS
glyceraldehyde-3-phosphate dehydrogenase, spermatogenic
onset
IAGP EXP
DNA:snps:promoter, intron: (rs4806173, rs12984928) (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:17192785 PMID:15507493
RGD:1358618
NCBI chr19:35,533,456...35,545,319
Ensembl chr19:35,533,455...35,545,319
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GCG
glucagon
IDA
RGD
PMID:23035082
RGD:10402366
NCBI chr 2:162,142,882...162,152,247
Ensembl chr 2:162,142,882...162,152,404
G
GDNF
glial cell derived neurotrophic factor
treatment
IEP ISO
mRNA, protein:alternate form, decreased expression:brain
RGD
PMID:22081608 PMID:30776009
RGD:5688777 , RGD:405850256
NCBI chr 5:37,812,677...37,840,041
Ensembl chr 5:37,812,677...37,840,041
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GHRH
growth hormone releasing hormone
treatment
ISO
RGD
PMID:23211425
RGD:10401233
NCBI chr20:37,251,086...37,261,814
Ensembl chr20:37,251,086...37,261,819
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GLUD1
glutamate dehydrogenase 1
IEP
protein:increased expression:brain protein:increased expression, decreased oxidation:brain
RGD
PMID:16341942 PMID:16298240
RGD:6484555 , RGD:6484556
NCBI chr10:87,050,202...87,094,843
Ensembl chr10:87,050,202...87,094,843
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GLUL
glutamate-ammonia ligase
IEP IDA
protein:increased expression:cerebrospinal fluid:significant increase in active protein vs normal patients and controls with other neurological disorders protein:increased oxidation:brain
RGD
PMID:1361232 PMID:12160938
RGD:2301429 , RGD:2301427
NCBI chr 1:182,378,098...182,391,790
Ensembl chr 1:182,378,098...182,392,206
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GNAS
GNAS complex locus
IEP
RGD
PMID:8012802
RGD:10401266
NCBI chr20:58,839,748...58,911,192
Ensembl chr20:58,839,718...58,911,192
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GRID2IP
Grid2 interacting protein
IAGP
ClinVar Annotator: match by term: Alzheimer disease, early onset
ClinVar
PMID:25741868
NCBI chr 7:6,496,778...6,551,461
Ensembl chr 7:6,496,778...6,551,461
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GRIN1
glutamate ionotropic receptor NMDA type subunit 1
IEP
RGD
PMID:24156266
RGD:13792688
NCBI chr 9:137,139,154...137,168,756
Ensembl chr 9:137,138,346...137,168,756
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GRIN2A
glutamate ionotropic receptor NMDA type subunit 2A
IEP
RGD
PMID:24156266
RGD:13792688
NCBI chr16:9,753,404...10,182,908
Ensembl chr16:9,753,404...10,183,337
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GRIN2B
glutamate ionotropic receptor NMDA type subunit 2B
no_association
IEP IAGP
DNA:SNPs:promoter, exon, 3' utr:-200T>G (rs1019385), 2664C>T (rs1806201), 5072G>T (rs890) (human) DNA:SNPs:promoter:-200T>G (rs1019385), -1447T>C, -1497G>A (rs12368476) (human) DNA:SNP:promoter:-421C>A (rs3764028) (human) DNA:SNP: :2664C>T (rs1806201) (human) DNA:SNP, haplotype: :rs1806201 (human)
RGD
PMID:24156266 PMID:18303265 PMID:18983893 PMID:18983893 PMID:24292895 PMID:24292895 More...
RGD:13792688 , RGD:13792714 , RGD:13792713 , RGD:13792713 , RGD:13792709 , RGD:13792709
NCBI chr12:13,537,337...13,982,134
Ensembl chr12:13,437,942...13,982,002
G
GRK5
G protein-coupled receptor kinase 5
ISO
DNA: deletion: exons 7,8: heterozygote
RGD
PMID:18522748
RGD:5688375
NCBI chr10:119,207,571...119,459,745
Ensembl chr10:119,207,571...119,459,745
G
GRN
granulin precursor
severity onset
IAGP ISO
DNA:SNP:3'UTR:rs5848(human) ClinVar Annotator: match by term: Alzheimer disease DNA:SNPs: :rs5848, rs850713, rs4792939 (human) DNA:mutations: : mRNA, protein:increased expression:microglia, neuron: DNA:deletion:exon:c.154delA(human)
ClinVar RGD
PMID:16199547 PMID:16862116 PMID:16950801 PMID:22608501 PMID:28492532 PMID:30279455 PMID:31031559 PMID:20197700 PMID:19016491 PMID:18565828 PMID:19557827 PMID:20142525 More...
RGD:5509600 , RGD:10401636 , RGD:5509616 , RGD:5509606 , RGD:5509601
NCBI chr17:44,345,302...44,353,106
Ensembl chr17:44,345,246...44,353,106
G
GSK3A
glycogen synthase kinase 3 alpha
treatment
ISO
RGD
PMID:18410522 PMID:22623685
RGD:10401797 , RGD:10401801
NCBI chr19:42,230,190...42,242,602
Ensembl chr19:42,226,225...42,242,625
G
GSK3B
glycogen synthase kinase 3 beta
treatment
ISO IAGP EXP
DNA:SNP:promoter:rs334558 (human) CTD Direct Evidence: marker/mechanism protein:decreased phosphorylation:hippocampus: DNA:altered methylation:CpG island:
CTD RGD
PMID:17409235 PMID:22944069 PMID:11226152 PMID:29257340 PMID:27893738 PMID:19154537 PMID:22623685 PMID:22982863 PMID:22048123 PMID:24101602 More...
RGD:1302533 , RGD:13792777 , RGD:13792736 , RGD:13782364 , RGD:10401801 , RGD:10045670 , RGD:10045669 , RGD:10045668
NCBI chr 3:119,821,321...120,094,447
Ensembl chr 3:119,821,321...120,094,994
G
GSR
glutathione-disulfide reductase
treatment
IEP ISO
protein:decreased expression:blood mRNA:increased expression:hippocampus
RGD
PMID:17721818 PMID:21376020 PMID:19374888 PMID:10096042
RGD:10401827 , RGD:10401857 , RGD:10401849 , RGD:10401847
NCBI chr 8:30,678,066...30,727,846
Ensembl chr 8:30,678,066...30,727,846
G
GSS
glutathione synthetase
IDA
RGD
PMID:15693022
RGD:5508441
NCBI chr20:34,928,432...34,956,027
Ensembl chr20:34,928,432...34,956,027
G
GSTM3
glutathione S-transferase mu 3
IAGP IEP
DNA:SNP:cds: rs7483 (human)
RGD
PMID:18423940 PMID:15621212
RGD:5688729 , RGD:5688745
NCBI chr 1:109,733,937...109,741,038
Ensembl chr 1:109,733,932...109,741,038
G
GSTO1
glutathione S-transferase omega 1
onset susceptibility no_association
IAGP
DNA:polymorphism:exon:p. A140D (rs4925) (human)
RGD
PMID:14570706 PMID:20818931 PMID:15917099
RGD:1358651 , RGD:5490521 , RGD:5490514
NCBI chr10:104,254,173...104,267,455
Ensembl chr10:104,235,356...104,267,459
G
GSTO2
glutathione S-transferase omega 2
onset no_association
IAGP
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 chr10:104,269,184...104,304,950
Ensembl chr10:104,268,873...104,304,950
G
GSTP1
glutathione S-transferase pi 1
susceptibility onset
IAGP ISO
mRNA:decreased expression:cerebral cortex DNA:polymorphisms DNA:polymorphism:exon:
RGD
PMID:15805147 PMID:23211594 PMID:24584466 PMID:17911365
RGD:5490123 , RGD:10401913 , RGD:10401912 , RGD:5490271
NCBI chr11:67,583,812...67,586,653
Ensembl chr11:67,583,742...67,586,656
G
GSTT1
glutathione S-transferase theta 1
susceptibility onset
IAGP
DNA:deletion: :
RGD
PMID:10215103 PMID:17911365
RGD:5490213 , RGD:5490271
G
GUCY1B1
guanylate cyclase 1 soluble subunit beta 1
IEP
RGD
PMID:15571982
RGD:10401946
NCBI chr 4:155,759,021...155,807,811
Ensembl chr 4:155,758,992...155,807,811
G
HADHA
hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha
IEP
protein:decreased expression:brain
RGD
PMID:25260493
RGD:10047114
NCBI chr 2:26,190,635...26,244,632
Ensembl chr 2:26,190,635...26,244,672
G
HADHB
hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta
IEP
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 2:26,244,939...26,290,465
Ensembl chr 2:26,243,170...26,290,465
G
HBA2
hemoglobin subunit alpha 2
ISO
RGD
PMID:21428213
RGD:10450508
NCBI chr16:172,876...173,710
Ensembl chr16:172,876...173,710
G
HDAC2
histone deacetylase 2
ISO
protein:increased expression:hippocampus:
RGD
PMID:22388814
RGD:9590324
NCBI chr 6:113,933,028...113,971,148
Ensembl chr 6:113,933,028...114,011,308
G
HFE
homeostatic iron regulator
IAGP EXP
with Tf C2 variant;DNA:missense mutation:cds:p.C282Y (human) ClinVar Annotator: match by term: Alzheimer disease ClinVar Annotator: match by term: Alzheimer's disease CTD Direct Evidence: marker/mechanism
ClinVar CTD RGD
PMID:8696333 PMID:8896550 PMID:9106528 PMID:9162021 PMID:9356458 PMID:9462220 PMID:10194428 PMID:10660483 PMID:11336458 PMID:11358905 PMID:11399207 PMID:11423500 PMID:11479183 PMID:11532995 PMID:11812557 PMID:11874997 PMID:11904676 PMID:12377814 PMID:12429850 PMID:12885340 PMID:14673107 PMID:15060098 PMID:15347835 PMID:15546588 PMID:16132052 PMID:16186539 PMID:17042772 PMID:17047092 PMID:17210810 PMID:17308297 PMID:17600748 PMID:18566337 PMID:19159930 PMID:19554541 PMID:19560233 PMID:19681031 PMID:20107990 PMID:20301613 PMID:20560808 PMID:21243428 PMID:21349849 PMID:21452290 PMID:23178241 PMID:23429074 PMID:24033266 PMID:24729993 PMID:25741868 PMID:26153218 PMID:26365338 PMID:26975792 PMID:27173269 PMID:28280078 PMID:28443246 PMID:28492532 PMID:28617828 PMID:29404719 PMID:30291871 PMID:31220083 PMID:31980526 PMID:15060098 More...
RGD:1358657
NCBI chr 6:26,087,429...26,098,343
Ensembl chr 6:26,087,226...26,098,343
G
HFE-AS1
HFE antisense RNA 1
IAGP
ClinVar Annotator: match by term: Alzheimer's disease ClinVar Annotator: match by term: Alzheimer disease
ClinVar
PMID:8696333 PMID:8896550 PMID:9106528 PMID:9162021 PMID:9356458 PMID:9462220 PMID:10194428 PMID:10660483 PMID:11336458 PMID:11358905 PMID:11399207 PMID:11423500 PMID:11479183 PMID:11532995 PMID:11812557 PMID:11874997 PMID:11904676 PMID:12377814 PMID:12429850 PMID:12885340 PMID:14673107 PMID:15347835 PMID:15546588 PMID:16132052 PMID:16186539 PMID:17042772 PMID:17210810 PMID:17308297 PMID:17600748 PMID:18566337 PMID:19159930 PMID:19554541 PMID:19560233 PMID:19681031 PMID:20107990 PMID:20301613 PMID:20560808 PMID:21243428 PMID:21349849 PMID:21452290 PMID:23178241 PMID:23429074 PMID:24033266 PMID:24729993 PMID:25741868 PMID:26153218 PMID:26365338 PMID:26975792 PMID:27173269 PMID:28280078 PMID:28443246 PMID:28492532 PMID:28617828 PMID:29404719 PMID:30291871 PMID:31220083 PMID:31980526 More...
NCBI chr 6:26,086,290...26,091,034
G
HIF1A
hypoxia inducible factor 1 subunit alpha
IEP ISO
mRNA, protein:increased expression:cerebral cortex, microvessel (human) protein:increased expression:brain, microvessel (mouse)
RGD
PMID:16627934 PMID:21904637
RGD:9068875 , RGD:9068888
NCBI chr14:61,695,513...61,748,258
Ensembl chr14:61,695,513...61,748,259
G
HLA-DRB1
major histocompatibility complex, class II, DR beta 1
IMP
RGD
PMID:21473952
RGD:5147563
NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848
G
HLA-DRB5
major histocompatibility complex, class II, DR beta 5
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:27713094
NCBI chr 6:32,517,353...32,530,287
Ensembl chr 6:32,517,353...32,530,287
G
HMGB1
high mobility group box 1
ISO
RGD
PMID:23905994
RGD:10402058
NCBI chr13:30,456,704...30,617,597
Ensembl chr13:30,456,704...30,617,597
G
HMGCR
3-hydroxy-3-methylglutaryl-CoA reductase
IMP
RGD
PMID:17724290
RGD:5508460
NCBI chr 5:75,336,529...75,362,116
Ensembl chr 5:75,336,329...75,364,001
G
HMOX1
heme oxygenase 1
IEP EXP
protein:increased expression:hippocampus, temporal cortex (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:11144356 PMID:7778849
RGD:1358658
NCBI chr22:35,381,096...35,394,207
Ensembl chr22:35,380,361...35,394,214
G
HNRNPA1
heterogeneous nuclear ribonucleoprotein A1
IEP
protein:decreased expression:entorhinal cortex (human)
RGD
PMID:22628224
RGD:9999191
NCBI chr12:54,280,726...54,287,087
Ensembl chr12:54,280,193...54,287,088
G
HNRNPA2B1
heterogeneous nuclear ribonucleoprotein A2/B1
IEP
protein:decreased expression:entorhinal cortex (human)
RGD
PMID:22628224
RGD:9999191
NCBI chr 7:26,189,927...26,200,746
Ensembl chr 7:26,171,151...26,201,529
G
HRAS
HRas proto-oncogene, GTPase
IEP
protein:increased expression:brain, neuron (human)
RGD
PMID:10661494
RGD:10412306
NCBI chr11:532,242...535,576
Ensembl chr11:532,242...537,321
G
HSD17B10
hydroxysteroid 17-beta dehydrogenase 10
treatment
IEP ISO
protein:increased expression:brain (human) protein:increased expression:hippocampus, neuron, mitochondria
RGD
PMID:9338779 PMID:11869808 PMID:21307267
RGD:1358426 , RGD:632866 , RGD:13792781
NCBI chr X:53,431,258...53,434,376
Ensembl chr X:53,431,258...53,434,370
G
HSD17B3
hydroxysteroid 17-beta dehydrogenase 3
IEP
mRNA:altered expression:cerebellum, hippocampus (human)
RGD
PMID:18180323
RGD:4889108
NCBI chr 9:96,235,306...96,302,176
Ensembl chr 9:96,235,306...96,302,176
G
HSD3B2
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2
IEP
mRNA:altered expression:cerebellum, hippocampus (human)
RGD
PMID:18180323
RGD:4889108
NCBI chr 1:119,414,931...119,423,034
Ensembl chr 1:119,414,931...119,423,035
G
HSF1
heat shock transcription factor 1
ISO
protein:altered localization:promoter (mouse) protein:decreased expression:cerebellum (rat)
RGD
PMID:24849358 PMID:23665061
RGD:10402385 , RGD:10402771
NCBI chr 8:144,291,604...144,314,720
Ensembl chr 8:144,291,591...144,314,720
G
HSP90AA1
heat shock protein 90 alpha family class A member 1
IEP
protein:decreased expression:serum (human)
RGD
PMID:23948885
RGD:10413860
NCBI chr14:102,080,742...102,139,749
Ensembl chr14:102,080,742...102,139,699
G
HSPA13
heat shock protein family A (Hsp70) member 13
IAGP
ClinVar Annotator: match by term: Alzheimer disease
ClinVar
PMID:16369530 PMID:16921174 PMID:24691562
NCBI chr21:14,371,115...14,383,146
Ensembl chr21:14,371,115...14,383,484
G
HSPA1A
heat shock protein family A (Hsp70) member 1A
IAGP
DNA:polymorphism: :-110A>C(human)
RGD
PMID:15832029
RGD:10402403
NCBI chr 6:31,815,543...31,817,942
Ensembl chr 6:31,815,543...31,817,946
G
HSPA1B
heat shock protein family A (Hsp70) member 1B
disease_progression
IAGP
DNA:polymorphism: :
RGD
PMID:12967056
RGD:10402401
NCBI chr 6:31,827,738...31,830,254
Ensembl chr 6:31,827,738...31,830,254
G
HSPA9
heat shock protein family A (Hsp70) member 9
ISO IEP
RGD
PMID:17050040 PMID:17050040
RGD:10402560 , RGD:10402560
NCBI chr 5:138,553,756...138,575,401
Ensembl chr 5:138,553,756...138,575,675
G
HSPB1
heat shock protein family B (small) member 1
ISO
mRNA,protein:increased expression:brainstem, astrocyte:
RGD
PMID:25772164
RGD:10402580
NCBI chr 7:76,302,673...76,304,292
Ensembl chr 7:76,302,673...76,305,813
G
HSPD1
heat shock protein family D (Hsp60) member 1
ISO IEP
protein:increased modification:brain protein:increased expression:mitochondrion: protein:increased expression:cytosol, mitochondrion:
RGD
PMID:15802185 PMID:22753410 PMID:22753410
RGD:1624243 , RGD:10402831 , RGD:10402831
NCBI chr 2:197,486,584...197,500,274
Ensembl chr 2:197,486,584...197,516,737
G
HTR1A
5-hydroxytryptamine receptor 1A
IEP
RGD
PMID:20508993
RGD:5683632
NCBI chr 5:63,957,874...63,962,445
Ensembl chr 5:63,957,874...63,962,507
G
HTR2A
5-hydroxytryptamine receptor 2A
treatment
ISO
RGD
PMID:26889223
RGD:401901085
NCBI chr13:46,831,546...46,898,082
Ensembl chr13:46,831,546...46,897,076
G
HTR6
5-hydroxytryptamine receptor 6
susceptibility
IAGP
DNA:silent mutation:cds: 267C>T (human)
RGD
PMID:10624811
RGD:1358662
NCBI chr 1:19,664,875...19,680,966
Ensembl chr 1:19,664,875...19,680,966
G
HTRA2
HtrA serine peptidase 2
IEP
protein:increased activity:frontal cortex (human)
RGD
PMID:21163861
RGD:5688722
NCBI chr 2:74,529,405...74,533,556
Ensembl chr 2:74,529,596...74,533,350
G
ICAM1
intercellular adhesion molecule 1
IAGP
DNA:missense mutation:cds:p.K469E (human)
RGD
PMID:12498973
RGD:1358664
NCBI chr19:10,271,120...10,286,615
Ensembl chr19:10,271,093...10,286,615
G
IDE
insulin degrading enzyme
treatment
ISO IEP EXP
protein:decreased expression:cerebrospinal fluid associated with Insulin Resistance CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:17192785 PMID:12634421 PMID:28157092 PMID:28164769 PMID:29948724 PMID:26963025 PMID:28447730 PMID:28553348 PMID:30224067 More...
RGD:737718 , RGD:13792829 , RGD:13792824 , RGD:13792800 , RGD:13792798 , RGD:13792793 , RGD:13792792 , RGD:13792790
NCBI chr10:92,451,684...92,574,093
Ensembl chr10:92,451,684...92,574,096
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IGF1
insulin like growth factor 1
treatment onset susceptibility
ISO EXP IDA IEP IAGP
protein:decreased expression:hippocampus: CTD Direct Evidence: marker/mechanism protein:increased expression:serum: DNA:polymorphism:intron: rs972936(human) protein:altered expression:plasma,cerebral spinal fluid:
CTD RGD
PMID:15750215 PMID:23740209 PMID:10399774 PMID:24054991 PMID:23089282 PMID:24301648 PMID:24301648 More...
RGD:10045852 , RGD:10402576 , RGD:10045860 , RGD:10045854 , RGD:10045853 , RGD:10045853
NCBI chr12:102,395,874...102,481,839
Ensembl chr12:102,395,874...102,481,744
G
IGF1R
insulin like growth factor 1 receptor
treatment severity
ISO EXP IEP
DNA: haploinsufficiency:: full knockout dies at birth CTD Direct Evidence: marker/mechanism protein:increased expression: cerebral cortex: protein:increased expression:temporal cortex:
CTD RGD
PMID:15750215 PMID:20409077 PMID:23562514 PMID:18479783 PMID:18479783 PMID:16274856 PMID:16274856 PMID:19487308 More...
RGD:5686420 , RGD:12904921 , RGD:10045894 , RGD:10045894 , RGD:10045879 , RGD:10045879 , RGD:10045878
NCBI chr15:98,648,539...98,964,530
Ensembl chr15:98,648,539...98,964,530
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IGF2
insulin like growth factor 2
treatment
ISO EXP IEP
mRNA:decreased expression:brain CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:15750215 PMID:16627931 PMID:24685003 PMID:21040071 PMID:24887203
RGD:5509963 , RGD:10402559 , RGD:10402558 , RGD:10045934
NCBI chr11:2,129,117...2,149,566
Ensembl chr11:2,129,112...2,158,391
G
IGF2R
insulin like growth factor 2 receptor
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:15750215
NCBI chr 6:159,969,082...160,111,504
Ensembl chr 6:159,969,082...160,113,507
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IGFBP2
insulin like growth factor binding protein 2
IEP
protein:decreased expression:temporal cortex:
RGD
PMID:18479783
RGD:10045894
NCBI chr 2:216,632,828...216,664,436
Ensembl chr 2:216,632,828...216,664,436
G
IGFBP3
insulin like growth factor binding protein 3
treatment
IEP IDA ISO
protein:increased expression:serum mRNA:decreased expression:hippocampus
RGD
PMID:23473966 PMID:10399774 PMID:24964199
RGD:10402570 , RGD:10402576 , RGD:10402572
NCBI chr 7:45,912,245...45,921,272
Ensembl chr 7:45,912,245...45,921,874
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IKBKB
inhibitor of nuclear factor kappa B kinase subunit beta
treatment
ISO
protein:increased expression:hippocampus:
RGD
PMID:24380241
RGD:10045941
NCBI chr 8:42,271,302...42,332,460
Ensembl chr 8:42,271,302...42,332,460
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IL10
interleukin 10
susceptibility treatment
IAGP ISO
DNA:SNPs,haplotype: -1082G>A, -819T>C, -592C>A (human)
RGD
PMID:14746878 PMID:21803105
RGD:1358665 , RGD:7364841
NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541
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IL1A
interleukin 1 alpha
susceptibility disease_progression no_association
IAGP IEP
protein:increased expression:microglial cell, cortical layer: DNA:SNP:5'UTR:rs1800587(human)
RGD
PMID:10716257 PMID:9775393 PMID:11402127 PMID:19158434
RGD:1358667 , RGD:10046059 , RGD:10045947 , RGD:10045945
NCBI chr 2:112,773,925...112,784,493
Ensembl chr 2:112,773,925...112,784,493
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IL1B
interleukin 1 beta
onset no_association treatment
IEP IAGP ISO IMP EXP
protein:increased expression:plasma DNA:SNP: :rs1143634 (human) DNA:SNP:promoter:-31T>C (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:18675847 PMID:16600299 PMID:20413850 PMID:18830724 PMID:18830724 PMID:23378761 PMID:26937653 PMID:24022074 PMID:24874542 PMID:29447949 PMID:22963993 More...
RGD:1626633 , RGD:13793381 , RGD:13792820 , RGD:13792820 , RGD:13792819 , RGD:11522340 , RGD:13792818 , RGD:13792817 , RGD:13792816 , RGD:7204700
NCBI chr 2:112,829,751...112,836,779
Ensembl chr 2:112,829,751...112,836,816
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IL2
interleukin 2
severity
IDA IEP
protein:increased secretion:mononuclear cell:
RGD
PMID:8915041 PMID:8586980
RGD:10047080 , RGD:10047081
NCBI chr 4:122,451,470...122,456,725
Ensembl chr 4:122,451,470...122,456,725
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IL3
interleukin 3
IEP
protein:decreased expression:plasma
RGD
PMID:17934472 PMID:18769539
RGD:5686815 , RGD:5686817
NCBI chr 5:132,060,655...132,063,204
Ensembl chr 5:132,060,655...132,063,204
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IL33
interleukin 33
ISS
OMIM:608907
MouseDO
NCBI chr 9:6,215,149...6,257,983
Ensembl chr 9:6,215,786...6,257,983
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IL4
interleukin 4
IAGP
DNA:polymorphisms:promoter
RGD
PMID:20213229
RGD:10402788
NCBI chr 5:132,673,989...132,682,678
Ensembl chr 5:132,673,986...132,682,678
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IL6
interleukin 6
treatment
ISO
RGD
PMID:27088818
RGD:11062148
NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002
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IL6R
interleukin 6 receptor
no_association
IEP IAGP
protein:increased expression:cerebrospinal fluid, plasma DNA:SNPs:promoter:-208G>A (rs4845617) (human) DNA:SNPs:promoter, exon:-530G>T, 48867A/>C (p.D358A, rs8192284) (human)
RGD
PMID:12664314 PMID:20197062 PMID:20197062
RGD:10402808 , RGD:10402810 , RGD:10402810
NCBI chr 1:154,405,343...154,469,450
Ensembl chr 1:154,405,193...154,469,450
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IL6ST
interleukin 6 cytokine family signal transducer
IEP
protein:decreased expression:cerebrospinal fluid
RGD
PMID:10095017
RGD:10402847
NCBI chr 5:55,935,095...55,994,963
Ensembl chr 5:55,935,095...55,995,022
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IL7
interleukin 7
IEP
RGD
PMID:22571981
RGD:10402933
NCBI chr 8:78,675,044...78,805,463
Ensembl chr 8:78,675,743...78,805,523
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INPP5D
inositol polyphosphate-5-phosphatase D
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:30320580
NCBI chr 2:233,060,342...233,207,903
Ensembl chr 2:233,059,967...233,207,903
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INS
insulin
ISO EXP
mRNA:decreased expression:cerebral cortex CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:9443474 PMID:15750215 PMID:17448147
RGD:2298713
NCBI chr11:2,159,779...2,161,209
Ensembl chr11:2,159,779...2,161,221
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INS-IGF2
INS-IGF2 readthrough
ISO
mRNA:decreased expression:hippocampus
RGD
PMID:17448147
RGD:2298713
NCBI chr11:2,129,117...2,161,209
Ensembl chr11:2,132,538...2,161,209
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INSR
insulin receptor
treatment
ISO EXP IEP
CTD Direct Evidence: marker/mechanism mRNA:decreased expression:brain protein:altered localization:brain, neuron
CTD RGD
PMID:24055495 PMID:23011726 PMID:16627931 PMID:18479783
RGD:10403036 , RGD:5509963 , RGD:10045894
NCBI chr19:7,112,265...7,294,414
Ensembl chr19:7,112,255...7,294,414
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IQCK
IQ motif containing K
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:30820047
NCBI chr16:19,718,271...19,858,467
Ensembl chr16:19,716,456...19,858,467
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IREB2
iron responsive element binding protein 2
IAGP
DNA:SNPs: :rs2656070, rs13180(human)
RGD
PMID:16914832
RGD:6893299
NCBI chr15:78,437,431...78,501,453
Ensembl chr15:78,437,431...78,501,453
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IRS1
insulin receptor substrate 1
treatment severity
IEP ISO IAGP
protein:increased expression, increased serine phosphorylation, increased tyrosine phosphorylation:hippocampus CA1 protein:decreased expression:hippocampus: DNA:SNP:cds:rs1801278(human) protein:altered expression:temporal cortex: protein:increased serine phosphorylation:hippocampus
RGD
PMID:22476197 PMID:23011726 PMID:22527777 PMID:23660953 PMID:24589556 PMID:18479783 PMID:22476196 More...
RGD:6482860 , RGD:10403036 , RGD:10045939 , RGD:10045935 , RGD:10045932 , RGD:10045894 , RGD:6482861
NCBI chr 2:226,731,312...226,799,820
Ensembl chr 2:226,731,312...226,799,820
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IRS2
insulin receptor substrate 2
severity
ISO IEP
mRNA:decreased expression:hippocampus: protein:decreased expression:temporal cortex:
RGD
PMID:19487308 PMID:24887203 PMID:18479783
RGD:10045878 , RGD:10045934 , RGD:10045894
NCBI chr13:109,752,695...109,786,583
Ensembl chr13:109,752,695...109,786,583
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ITPR1
inositol 1,4,5-trisphosphate receptor type 1
IEP
protein:decreased expression:temporal cortex, frontal cortex (human)
RGD
PMID:8819138
RGD:6482821
NCBI chr 3:4,493,348...4,847,506
Ensembl chr 3:4,493,345...4,847,506
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JAK2
Janus kinase 2
treatment
ISO
RGD
PMID:18813209
RGD:10403051
NCBI chr 9:4,984,390...5,129,948
Ensembl chr 9:4,984,390...5,129,948
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JAM2
junctional adhesion molecule 2
IAGP
ClinVar Annotator: match by term: Alzheimer disease
ClinVar
PMID:16369530 PMID:16921174 PMID:24691562 PMID:25741868
NCBI chr21:25,639,258...25,717,562
Ensembl chr21:25,639,258...25,717,562
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KCNC1
potassium voltage-gated channel subfamily C member 1
ISO
mRNA, protein:decreased expression:neocortex (mouse)
RGD
PMID:21912965
RGD:9686062
NCBI chr11:17,734,781...17,783,057
Ensembl chr11:17,734,774...17,856,804
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KCNC4
potassium voltage-gated channel subfamily C member 4
ISO IEP
mRNA:decreased expression:neocortex (mouse) mRNA, protein:increased expression: frontal cortex
RGD
PMID:21912965 PMID:15485486
RGD:9686062 , RGD:10411900
NCBI chr 1:110,210,314...110,284,080
Ensembl chr 1:110,210,314...110,283,100
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KCNMA1
potassium calcium-activated channel subfamily M alpha 1
onset
IAGP
DNA:SNP: :rs16934131 (human)
RGD
PMID:21480501
RGD:10412025
NCBI chr10:76,869,602...77,637,808
Ensembl chr10:76,869,601...77,638,369
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KL
klotho
treatment
ISO
mRNA,protein:decreased expression:cerebral choroid,serum:
RGD
PMID:23973442
RGD:10403049
NCBI chr13:33,016,243...33,066,143
Ensembl chr13:33,016,423...33,066,143
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KLC1
kinesin light chain 1
susceptibility
IAGP
DNA:SNPs: :rs8007903, rs3212079 (human) DNA:SNP:intron:56836G>C (human)
RGD
PMID:19911314 PMID:15364413
RGD:5683908 , RGD:5684007
NCBI chr14:103,629,211...103,701,544
Ensembl chr14:103,561,896...103,714,249
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KLK6
kallikrein related peptidase 6
IAGP
RGD
PMID:12480753 PMID:12074831
RGD:1358604 , RGD:1358599
NCBI chr19:50,958,631...50,969,591
Ensembl chr19:50,958,631...50,969,673
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KLRG1
killer cell lectin like receptor G1
IAGP
ClinVar Annotator: match by term: ALPHA-2-MACROGLOBULIN POLYMORPHISM
ClinVar
PMID:1370808 PMID:1717945 PMID:9697696 PMID:9811940 PMID:15023809 PMID:24033266 PMID:25741868 More...
NCBI chr12:8,950,044...9,215,570
Ensembl chr12:8,950,044...9,010,760
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L1CAM
L1 cell adhesion molecule
IEP
protein:increased expression:cerebrospinal fluid (human)
RGD
PMID:16298234
RGD:6483456
NCBI chr X:153,861,514...153,886,173
Ensembl chr X:153,861,514...153,886,173
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LDLR
low density lipoprotein receptor
no_association
ISO IAGP
DNA:SNPs:exon:rs5925, rs5927, rs5930 (human) DNA:SNPs:exon (human) DNA:SNPs:exon:rs5925, rs5930, rs11669576 (human) DNA:SNPs: :rs5925, rs2738444, rs11669576 (human)
RGD
PMID:21755005 PMID:15585340 PMID:16378661 PMID:15689450 PMID:16741934 PMID:17239995 More...
RGD:5490231 , RGD:5490244 , RGD:5490243 , RGD:5490242 , RGD:5490241 , RGD:5490239
NCBI chr19:11,089,463...11,133,820
Ensembl chr19:11,089,418...11,133,820
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LEP
leptin
treatment
ISO EXP IEP
associated with Obesity CTD Direct Evidence: therapeutic compared to cortisol;protein:altered expression:plasma (human)
CTD RGD
PMID:20157255 PMID:25296496 PMID:9755363
RGD:10053617 , RGD:10053632
NCBI chr 7:128,241,278...128,257,629
Ensembl chr 7:128,241,278...128,257,629
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LIPC
lipase C, hepatic type
no_association
IAGP
DNA:SNPs: :rs6074, rs6083, rs6084 (human) DNA:SNPs: :rs6084 (human)
RGD
PMID:17175070 PMID:17175070
RGD:1600644 , RGD:1600644
NCBI chr15:58,431,991...58,569,844
Ensembl chr15:58,410,569...58,569,844
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LIPI
lipase I
IAGP
ClinVar Annotator: match by term: Alzheimer disease
ClinVar
PMID:16369530 PMID:16921174 PMID:24691562
NCBI chr21:14,108,812...14,210,955
Ensembl chr21:14,108,813...14,210,955
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LOC106694315
MPO proximal enhancer and promoter region
IAGP
ClinVar Annotator: match by term: Alzheimer disease, susceptibility to
ClinVar
PMID:11087769 PMID:12915675 PMID:15023809 PMID:17304047
NCBI chr17:58,279,588...58,282,434
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LOC126653330
CDK7 strongly-dependent group 2 enhancer GRCh37_chr21:27326978-27328177
IAGP
ClinVar Annotator: match by term: Alzheimer disease
ClinVar
PMID:9536098 PMID:17576681 PMID:25104557 PMID:28492532 PMID:32087291 PMID:35873773 More...
NCBI chr21:25,954,664...25,955,863
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LOC126860960
BRD4-independent group 4 enhancer GRCh37_chr10:75672789-75673988
IAGP
ClinVar Annotator: match by term: Alzheimer disease, late-onset, susceptibility to
ClinVar
PMID:12898287 PMID:15615772 PMID:15616835 PMID:16341549 PMID:28492532
NCBI chr10:73,913,031...73,914,394
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LOC129932678
ATAC-STARR-seq lymphoblastoid silent region 1893
IAGP
ClinVar Annotator: match by term: Early-Onset Familial Alzheimer Disease
ClinVar
NCBI chr 1:226,870,419...226,871,018
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LPA
lipoprotein(a)
IEP
protein:alternative form:plasma:presence of low molecular weight isoform(s) increased risk
RGD
PMID:15211075
RGD:5509891
NCBI chr 6:160,531,482...160,664,275
Ensembl chr 6:160,531,482...160,664,275
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LPL
lipoprotein lipase
no_association severity
IEP IAGP
DNA:point mutations: :p.N291S, p.S447X (human) DNA:polymorphism:intron DNA:SNPs: :rs268, rs328 (human) DNA:SNPs: :multiple DNA, mRNA:SNP, decreased expression: :rs285 (human)
RGD
PMID:24004859 PMID:10206232 PMID:12133567 PMID:15331147 PMID:16013913 PMID:27897113 PMID:16965549 More...
RGD:13793392 , RGD:13799353 , RGD:13793397 , RGD:13793396 , RGD:5685661 , RGD:13793395 , RGD:13793393
NCBI chr 8:19,939,253...19,967,259
Ensembl chr 8:19,901,717...19,967,259
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LRP1
LDL receptor related protein 1
treatment
IAGP ISO ISS
DNA:SNP:exon 3:C>T (human) OMIM:104300 | OMIM:502500 | OMIM:604154 | OMIM:608907
MouseDO RGD
PMID:9635959 PMID:19150622 PMID:29115637
RGD:1358747 , RGD:13800553 , RGD:13799352
NCBI chr12:57,128,483...57,213,361
Ensembl chr12:57,128,483...57,213,361
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LRP1B
LDL receptor related protein 1B
onset
ISO
mRNA:increased expression:hippocampus (mouse)
RGD
PMID:23150673
RGD:151665140
NCBI chr 2:140,231,423...142,131,016
Ensembl chr 2:140,231,423...142,131,016
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LRP8
LDL receptor related protein 8
no_association
IAGP
DNA:polymorphism:exon:2622T>C (human) DNA:polymorphisms: :multiple
RGD
PMID:12399018 PMID:20208369
RGD:6483064 , RGD:6483065
NCBI chr 1:53,242,364...53,328,070
Ensembl chr 1:53,242,364...53,328,469
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LRPAP1
LDL receptor related protein associated protein 1
onset
IAGP
DNA:deletion:intron
RGD
PMID:11425005
RGD:1358749
NCBI chr 4:3,503,612...3,532,422
Ensembl chr 4:3,503,612...3,532,446
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MAOA
monoamine oxidase A
IDA
RGD
PMID:1627256
RGD:10046060
NCBI chr X:43,655,006...43,746,817
Ensembl chr X:43,654,907...43,746,817
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MAOB
monoamine oxidase B
IDA EXP
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:7816197 PMID:21075085 PMID:1627256
RGD:10046060
NCBI chr X:43,766,610...43,882,450
Ensembl chr X:43,766,610...43,882,450
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MAP2
microtubule associated protein 2
ISO
RGD
PMID:22083255
RGD:6483322
NCBI chr 2:209,424,047...209,734,112
Ensembl chr 2:209,424,047...209,734,147
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MAPK1
mitogen-activated protein kinase 1
treatment onset
ISO IEP
mRNA:increased expression: CA2 field of hippocampus, pyramidal neuron
RGD
PMID:28079060 PMID:24334724
RGD:13800563 , RGD:13800868
NCBI chr22:21,759,657...21,867,680
Ensembl chr22:21,759,657...21,867,680
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MAPK10
mitogen-activated protein kinase 10
IEP
protein:increased expression:CA1 field of hippocampus:
RGD
PMID:11208906
RGD:10412676
NCBI chr 4:86,010,405...86,594,074
Ensembl chr 4:85,990,007...86,594,625
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MAPK14
mitogen-activated protein kinase 14
treatment
ISO
mRNA:increased expression:frontal lobe cortex, hippocampus CA2 (rat)
RGD
PMID:20529587 PMID:17784957
RGD:10047076 , RGD:10047104
NCBI chr 6:36,027,808...36,124,214
Ensembl chr 6:36,027,752...36,122,511
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MAPK3
mitogen-activated protein kinase 3
treatment
ISO
RGD
PMID:28079060
RGD:13800563
NCBI chr16:30,114,105...30,123,220
Ensembl chr16:30,114,105...30,123,506
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MAPK8
mitogen-activated protein kinase 8
disease_progression
IEP
protein:increased expression:brain,CA1 field of hippocampus:
RGD
PMID:11208906
RGD:10412676
NCBI chr10:48,306,677...48,439,360
Ensembl chr10:48,306,639...48,439,360
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MAPK9
mitogen-activated protein kinase 9
IEP
protein:increased expression:brain,CA1 field of hippocampus:
RGD
PMID:11208906
RGD:10412676
NCBI chr 5:180,233,143...180,292,083
Ensembl chr 5:180,233,143...180,292,099
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MAPT
microtubule associated protein tau
treatment onset no_association
IMP IEP IAGP ISO EXP
protein:increased expression:CSF (human) ClinVar Annotator: match by term: Alzheimer disease CTD Direct Evidence: marker/mechanism protein:hyperphosphorylation:brain: DNA:mutation:cds:p.R406W(human) DNA:SNP, haplotypes:promoter:rs242557 (human) DNA:SNPs, haplotypes:promoter:rs242557 (human)
ClinVar CTD RGD
PMID:12852432 PMID:14517953 PMID:15750215 PMID:20157255 PMID:21715663 PMID:25352456 PMID:27117003 PMID:30279455 PMID:11520987 PMID:29368621 PMID:27060945 PMID:28342971 PMID:29126976 PMID:8226987 PMID:19252918 PMID:18587238 PMID:23116876 PMID:19308965 More...
RGD:1302530 , RGD:127284889 , RGD:13800908 , RGD:13800904 , RGD:13782165 , RGD:10412709 , RGD:10412704 , RGD:10412701 , RGD:8158105 , RGD:8158097
NCBI chr17:45,894,554...46,028,334
Ensembl chr17:45,894,527...46,028,334
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MBL2
mannose binding lectin 2
susceptibility
IEP IAGP
protein:decreased expression:cerebrospinal fluid (human) DNA:haplotype:promoter:
RGD
PMID:9631454 PMID:23348713
RGD:4889155 , RGD:12910848
NCBI chr10:52,765,380...52,772,784
Ensembl chr10:52,765,380...52,772,784
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MCM2
minichromosome maintenance complex component 2
IDA ISO
RGD
PMID:19946466 PMID:17070803
RGD:10412048 , RGD:10412050
NCBI chr 3:127,598,411...127,622,436
Ensembl chr 3:127,598,223...127,622,436
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MDM4
MDM4 regulator of p53
disease_progression
IEP
RGD
PMID:23861893
RGD:10047419
NCBI chr 1:204,516,406...204,558,120
Ensembl chr 1:204,516,379...204,558,120
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MFN1
mitofusin 1
IEP
protein:decreased expression:hippocampus (human)
RGD
PMID:19605646
RGD:7800727
NCBI chr 3:179,347,709...179,394,936
Ensembl chr 3:179,347,709...179,394,936
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MFN2
mitofusin 2
IEP ISO
protein:decreased expression:hippocampus (human) protein:increased expression:hippocampus (rat)
RGD
PMID:19605646 PMID:28302704
RGD:7800727 , RGD:12910737
NCBI chr 1:11,980,444...12,013,508
Ensembl chr 1:11,980,181...12,015,211
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MIR100
microRNA 100
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25992776
NCBI chr11:122,152,229...122,152,308
Ensembl chr11:122,152,229...122,152,308
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MIR124-3
microRNA 124-3
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:28867212
NCBI chr20:63,178,500...63,178,586
Ensembl chr20:63,178,500...63,178,586
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MIR125B2
microRNA 125b-2
IAGP
ClinVar Annotator: match by term: Alzheimer disease
ClinVar
PMID:16369530 PMID:16921174 PMID:24691562
NCBI chr21:16,590,237...16,590,325
Ensembl chr21:16,590,237...16,590,325
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MIR132
microRNA 132
IEP
RNA:decreased expression:brain
RGD
PMID:23585551
RGD:7327146
NCBI chr17:2,049,908...2,050,008
Ensembl chr17:2,049,908...2,050,008
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MIR146A
microRNA 146a
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:22099153 PMID:25992776
NCBI chr 5:160,485,352...160,485,450
Ensembl chr 5:160,485,352...160,485,450
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MIR155
microRNA 155
IAGP
ClinVar Annotator: match by term: Alzheimer disease
ClinVar
PMID:16369530 PMID:16921174 PMID:24691562 PMID:25741868
NCBI chr21:25,573,980...25,574,044
Ensembl chr21:25,573,980...25,574,044
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MIR212
microRNA 212
IEP
RNA:decreased expression:brain
RGD
PMID:23585551
RGD:7327146
NCBI chr17:2,050,271...2,050,380
Ensembl chr17:2,050,271...2,050,380
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MIR296
microRNA 296
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25992776
NCBI chr20:58,817,615...58,817,694
Ensembl chr20:58,817,615...58,817,694
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MIR3622B
microRNA 3622b
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25992776
NCBI chr 8:27,701,673...27,701,767
Ensembl chr 8:27,701,673...27,701,767
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MIR375
microRNA 375
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25992776
NCBI chr 2:219,001,645...219,001,708
Ensembl chr 2:219,001,645...219,001,708
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MIR4467
microRNA 4467
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25992776
NCBI chr 7:102,471,469...102,471,531
Ensembl chr 7:102,471,469...102,471,531
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MIR505
microRNA 505
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25992776
NCBI chr X:139,924,148...139,924,231
Ensembl chr X:139,924,148...139,924,231
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MIR708
microRNA 708
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25992776
NCBI chr11:79,402,022...79,402,109
Ensembl chr11:79,402,022...79,402,109
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MIR766
microRNA 766
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25992776
NCBI chr X:119,646,738...119,646,848
Ensembl chr X:119,646,738...119,646,848
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MIR99A
microRNA 99a
IAGP
ClinVar Annotator: match by term: Alzheimer disease
ClinVar
PMID:16369530 PMID:16921174 PMID:24691562
NCBI chr21:16,539,089...16,539,169
Ensembl chr21:16,539,089...16,539,169
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MIRLET7C
microRNA let-7c
IAGP
ClinVar Annotator: match by term: Alzheimer disease
ClinVar
PMID:16369530 PMID:16921174 PMID:24691562
NCBI chr21:16,539,828...16,539,911
Ensembl chr21:16,539,828...16,539,911
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MME
membrane metalloendopeptidase
treatment no_association severity onset
ISS ISO IMP IAGP IDA
OMIM:104300 | OMIM:502500 | OMIM:604154 | OMIM:608907 associated with Endotoxemia DNA:SNPs, repeat:multiple:multiple DNA:SNPs:introns:rs1836915, rs6776185, rs6801319 (human) DNA:SNPs, haplotypes:promoter, introns:-204G>C, IVS17-294C>T, IVS22+36C>A (human) DNA:SNPs, repeats, deletion:promoter:multiple DNA:repeats DNA:SNPs:5' utr, 3' utr:rs3736187, rs989692, rs701109 (human) DNA:SNPs: :multiple DNA:SNP: :rs6797911 (human) DNA:SNP:3' utr:rs6665 (human)
MouseDO RGD
PMID:25416980 PMID:25884928 PMID:20141738 PMID:17928142 PMID:17928142 PMID:12074840 PMID:15860464 PMID:12527400 PMID:11849775 PMID:19606063 PMID:21537452 PMID:22493749 PMID:22493749 PMID:25991605 PMID:28294061 More...
RGD:13801033 , RGD:13801034 , RGD:13801024 , RGD:13801023 , RGD:13801023 , RGD:13801022 , RGD:13801021 , RGD:13801020 , RGD:1600813 , RGD:13801019 , RGD:13801012 , RGD:13801011 , RGD:13801011 , RGD:13801010 , RGD:13801009
NCBI chr 3:155,024,202...155,183,729
Ensembl chr 3:155,024,124...155,183,704
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MMP2
matrix metallopeptidase 2
IEP
protein:decreased expression:platelet
RGD
PMID:21875409
RGD:10059680
NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691
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MMP9
matrix metallopeptidase 9
IEP
protein:increased expression:plasma (human)
RGD
PMID:17697439
RGD:7207052
NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561
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MPO
myeloperoxidase
EXP IAGP
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Alzheimer disease, susceptibility to
CTD ClinVar
PMID:11087769 PMID:12915675 PMID:15023809 PMID:17304047 PMID:25741868
NCBI chr17:58,269,855...58,280,935
Ensembl chr17:58,269,855...58,280,935
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MRE11
MRE11 homolog, double strand break repair nuclease
IEP
protein:decreased expression:cerebral cortex (human)
RGD
PMID:15337312
RGD:2317734
NCBI chr11:94,415,570...94,512,412
Ensembl chr11:94,415,570...94,493,885
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MRPL39
mitochondrial ribosomal protein L39
IAGP
ClinVar Annotator: match by term: Alzheimer disease
ClinVar
PMID:16369530 PMID:16921174 PMID:24691562 PMID:25741868
NCBI chr21:25,585,656...25,607,859
Ensembl chr21:25,585,656...25,607,517
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MRTFA
myocardin related transcription factor A
ISO
protein:altered expression:brain cortex
RGD
PMID:27387387
RGD:596933302
NCBI chr22:40,410,289...40,636,719
Ensembl chr22:40,410,281...40,636,719
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MS4A4A
membrane spanning 4-domains A4A
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:21460841
NCBI chr11:60,280,666...60,308,970
Ensembl chr11:60,185,657...60,318,080
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MT-ND1
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1
IEP IAGP
mRNA:decreased expression:frontal cortex, Brodmann area 9 (human) ClinVar Annotator: match by term: Alzheimer disease
ClinVar RGD
PMID:8104867 PMID:15972314 PMID:15075441
RGD:5490287
NCBI chr MT:3,307...4,262
Ensembl chr MT:3,307...4,262
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MT-ND2
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2
no_association
IAGP
DNA:mutation::m.5460G>A
RGD
PMID:1370613 PMID:1352971
RGD:5507834 , RGD:5507833
NCBI chr MT:4,470...5,511
Ensembl chr MT:4,470...5,511
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MT-ND4
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4
IEP
mRNA:decreased expression:brain
RGD
PMID:10447460
RGD:5508713
NCBI chr MT:10,760...12,137
Ensembl chr MT:10,760...12,137
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MT1X
metallothionein 1X
ISO
RGD
PMID:22766972
RGD:10412319
NCBI chr16:56,682,470...56,684,196
Ensembl chr16:56,682,470...56,684,196
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MT2A
metallothionein 2A
ISO
mRNA:decreased expression:cerebral cortex (rat)
RGD
PMID:22766972 PMID:16914836
RGD:10412319 , RGD:10412320
NCBI chr16:56,608,584...56,609,497
Ensembl chr16:56,608,584...56,609,497
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MT3
metallothionein 3
IEP ISO IDA
mRNA:decreased expression:brain mRNA:increased expression:brain
RGD
PMID:1464312 PMID:10595827 PMID:16444595 PMID:19619132
RGD:6480485 , RGD:9685805 , RGD:6480619 , RGD:6480534
NCBI chr16:56,589,528...56,591,085
Ensembl chr16:56,589,074...56,591,088
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MTHFR
methylenetetrahydrofolate reductase
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:17192785
NCBI chr 1:11,785,723...11,805,964
Ensembl chr 1:11,785,723...11,806,455
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NAE1
NEDD8 activating enzyme E1 subunit 1
IEP
RGD
PMID:14557245
RGD:2302388
NCBI chr16:66,802,878...66,830,976
Ensembl chr16:66,802,875...66,873,256
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NAPB
NSF attachment protein beta
IEP
protein:decreased expression:temporal cortex
RGD
PMID:11244216
RGD:10412652
NCBI chr20:23,374,522...23,421,488
Ensembl chr20:23,374,519...23,421,519
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NBN
nibrin
IEP
RGD
PMID:15337312
RGD:2317734
NCBI chr 8:89,933,331...89,984,667
Ensembl chr 8:89,924,515...90,003,228
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NCAM1
neural cell adhesion molecule 1
ISO
RGD
PMID:31028587
RGD:40925918
NCBI chr11:112,961,420...113,278,436
Ensembl chr11:112,961,275...113,278,436
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NCAM2
neural cell adhesion molecule 2
IAGP
ClinVar Annotator: match by term: Alzheimer disease
ClinVar
PMID:16369530 PMID:16921174 PMID:24691562
NCBI chr21:20,998,409...21,543,329
Ensembl chr21:20,998,409...21,543,329
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NCF2
neutrophil cytosolic factor 2
IDA
protein:altered localization
RGD
PMID:10873554
RGD:2314452
NCBI chr 1:183,555,562...183,601,849
Ensembl chr 1:183,554,461...183,590,905
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NCK2
NCK adaptor protein 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:33589840
NCBI chr 2:105,744,453...105,894,272
Ensembl chr 2:105,744,912...105,894,274
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NCSTN
nicastrin
no_association onset
EXP IAGP IMP IDA
CTD Direct Evidence: marker/mechanism DNA:missense mutation, SNPs:exon, intron, 3' utr:multiple DNA:missense mutation: :417N>Y (human) DNA:SNPs, haplotype:introns:multiple protein:increased modification:brain DNA:SNP:promoter:-436C>T (human) DNA:SNPs:promoter:-796T>G, -1216C>A (human) DNA:SNP:promoter:-922G>T (rs10752637) (human)
CTD RGD
PMID:17192785 PMID:14642438 PMID:23595812 PMID:11992262 PMID:11992262 PMID:22404891 PMID:19394408 PMID:19394408 PMID:15157994 PMID:19840113 More...
RGD:13801188 , RGD:13801187 , RGD:13801052 , RGD:13801052 , RGD:13801051 , RGD:13801050 , RGD:13801050 , RGD:13801049 , RGD:13801048
NCBI chr 1:160,343,383...160,358,949
Ensembl chr 1:160,343,294...160,358,952
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NDUFA2
NADH:ubiquinone oxidoreductase subunit A2
IEP
RGD
PMID:28474567
RGD:13792588
NCBI chr 5:140,645,285...140,647,630
Ensembl chr 5:140,638,740...140,647,771
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NDUFA5
NADH:ubiquinone oxidoreductase subunit A5
IEP
RGD
PMID:19760337
RGD:13801191
NCBI chr 7:123,536,997...123,601,651
Ensembl chr 7:123,536,997...123,557,904
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NDUFA6
NADH:ubiquinone oxidoreductase subunit A6
IEP
mRNA:increased expression:blood
RGD
PMID:26943237
RGD:11572212
NCBI chr22:42,085,526...42,090,772
Ensembl chr22:42,085,526...42,090,884
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NDUFB3
NADH:ubiquinone oxidoreductase subunit B3
IEP
RGD
PMID:28474567
RGD:13792588
NCBI chr 2:201,072,001...201,085,750
Ensembl chr 2:201,071,433...201,085,750
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NDUFB8
NADH:ubiquinone oxidoreductase subunit B8
IEP
RGD
PMID:14570706
RGD:1358651
NCBI chr10:100,523,729...100,529,923
Ensembl chr10:100,523,668...100,530,000
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NDUFS3
NADH:ubiquinone oxidoreductase core subunit S3
onset
IEP
RGD
PMID:28242297
RGD:13824970
NCBI chr11:47,579,074...47,584,562
Ensembl chr11:47,565,336...47,584,562
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NECTIN2
nectin cell adhesion molecule 2
IAGP EXP
DNA:SNP: :rs6859 (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:29107063 PMID:30319691 PMID:30320580 PMID:22159054
RGD:6484658
NCBI chr19:44,846,297...44,889,223
Ensembl chr19:44,846,175...44,889,223
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NEFL
neurofilament light chain
IEP
protein:increased expression:CSF (human)
RGD
PMID:29368621 PMID:29391125
RGD:127284889 , RGD:127285384
NCBI chr 8:24,950,955...24,956,612
Ensembl chr 8:24,950,955...24,956,721
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NEFM
neurofilament medium chain
IDA
protein:decreased glycosylation:cerebral cortex
RGD
PMID:17687114
RGD:9743945
NCBI chr 8:24,913,761...24,919,093
Ensembl chr 8:24,913,758...24,919,098
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NFE2L2
NFE2 like bZIP transcription factor 2
onset treatment
IAGP IMP ISO
DNA:snps, haplotype:5' utr, intron:multiple (human) protein:increased expression:brain, nucleus
RGD
PMID:20064547 PMID:19805328 PMID:22913737 PMID:23771816
RGD:6893326 , RGD:10412689 , RGD:10412685 , RGD:10412683
NCBI chr 2:177,230,303...177,264,727
Ensembl chr 2:177,218,667...177,392,756
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NGB
neuroglobin
treatment
ISO
RGD
PMID:23428737
RGD:9743955
NCBI chr14:77,265,483...77,271,206
Ensembl chr14:77,265,483...77,271,206
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NGF
nerve growth factor
ISO
RGD
PMID:21368378
RGD:5144128
NCBI chr 1:115,285,917...115,338,249
Ensembl chr 1:115,285,904...115,338,770
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NGFR
nerve growth factor receptor
treatment no_association
ISO IEP IAGP
protein:altered localization:brain protein:altered expression:urine protein:decreased expression:basal nucleus of telencephalon, neuron DNA:SNPs, haplotypes: :multiple DNA:SNP:CDS:rs2072446
RGD
PMID:19334058 PMID:2557638 PMID:23545424 PMID:19070649 PMID:8215963 PMID:10683291 PMID:22236693 PMID:18780967 More...
RGD:5508225 , RGD:10414073 , RGD:10413895 , RGD:10413894 , RGD:10413893 , RGD:10413892 , RGD:10413891 , RGD:5508228
NCBI chr17:49,495,293...49,515,008
Ensembl chr17:49,495,293...49,515,008
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NOG
noggin
ISO
RGD
PMID:19463786
RGD:10414082
NCBI chr17:56,593,699...56,595,611
Ensembl chr17:56,593,699...56,595,611
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NOS1
nitric oxide synthase 1
susceptibility no_association
IAGP IEP
DNA:repeat:promoter DNA:repeat:exon DNA:SNP:exon:-84G>A (human)
RGD
PMID:21098972 PMID:12384247 PMID:10964481 PMID:17418914 PMID:17418914
RGD:13824974 , RGD:13824978 , RGD:13824976 , RGD:13824975 , RGD:13824975
NCBI chr12:117,208,142...117,361,626
Ensembl chr12:117,208,142...117,452,170
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NOS2
nitric oxide synthase 2
ISO IEP
RGD
PMID:21163295 PMID:12384247 PMID:16908860
RGD:4891161 , RGD:13824978 , RGD:5508721
NCBI chr17:27,756,766...27,800,529
Ensembl chr17:27,756,766...27,800,529
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NOS3
nitric oxide synthase 3
onset
IMP IAGP IEP EXP
human gene in rat model ClinVar Annotator: match by term: Alzheimer disease, late-onset, susceptibility to CTD Direct Evidence: marker/mechanism DNA:snp:cds:p.E298D (human)
ClinVar CTD RGD
PMID:9737779 PMID:9894802 PMID:10475066 PMID:10510054 PMID:10514107 PMID:11026457 PMID:11354626 PMID:11394896 PMID:11745998 PMID:15007011 PMID:16059745 PMID:16813604 PMID:17165044 PMID:24033266 PMID:25741868 PMID:17413318 PMID:12384247 PMID:10514107 More...
RGD:2292144 , RGD:13824978 , RGD:1358752
NCBI chr 7:150,991,017...151,014,588
Ensembl chr 7:150,991,017...151,014,588
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NPY
neuropeptide Y
treatment
ISO EXP IEP
CTD Direct Evidence: marker/mechanism protein:decreased expression:plasma
CTD RGD
PMID:11709213 PMID:22266216 PMID:8592643
RGD:10431479 , RGD:10432246
NCBI chr 7:24,284,190...24,291,862
Ensembl chr 7:24,284,188...24,291,862
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NRG1
neuregulin 1
disease_progression
IEP ISO
protein:decreased expression:hippocampus
RGD
PMID:12528817 PMID:29914798 PMID:27558862 PMID:29295823
RGD:10449002 , RGD:13703135 , RGD:405650194 , RGD:41404730
NCBI chr 8:31,639,245...32,774,046
Ensembl chr 8:31,639,222...32,855,666
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NRGN
neurogranin
IEP
RGD
PMID:9329454
RGD:9835394
NCBI chr11:124,739,942...124,747,210
Ensembl chr11:124,739,942...124,747,210
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NRIP1
nuclear receptor interacting protein 1
IAGP
ClinVar Annotator: match by term: Alzheimer disease
ClinVar
PMID:16369530 PMID:16921174 PMID:24691562
NCBI chr21:14,961,235...15,065,936
Ensembl chr21:14,961,235...15,065,936
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NRP1
neuropilin 1
severity
ISO IEP
mRNA,protein:increased expression:brain
RGD
PMID:34745215 PMID:34745215
RGD:401901163 , RGD:401901163
NCBI chr10:33,177,493...33,334,667
Ensembl chr10:33,177,492...33,336,262
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NTF3
neurotrophin 3
IAGP
DNA:missense mutation:cds:p.G63E (human)
RGD
PMID:9502217
RGD:1358754
NCBI chr12:5,430,332...5,495,299
Ensembl chr12:5,432,108...5,521,536
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NTN1
netrin 1
treatment
ISO
RGD
PMID:30066400
RGD:13782183
NCBI chr17:9,003,087...9,244,000
Ensembl chr17:9,021,510...9,244,000
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NTRK1
neurotrophic receptor tyrosine kinase 1
disease_progression
IAGP IEP
early onset sporadic AD; DNA:SNP:CDS:rs6336 mRNA:decreased expression:brain
RGD
PMID:18780967 PMID:21397006
RGD:5508228 , RGD:5684531
NCBI chr 1:156,815,750...156,881,850
Ensembl chr 1:156,815,636...156,881,850
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NTRK2
neurotrophic receptor tyrosine kinase 2
treatment
IAGP ISO
sporadic AD; DNA:SNP:intron:rs2289656
RGD
PMID:18780967 PMID:24877042 PMID:21900882
RGD:5508228 , RGD:10059402 , RGD:5684548
NCBI chr 9:84,668,522...85,027,054
Ensembl chr 9:84,668,375...85,095,751
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NUDT1
nudix hydrolase 1
IEP
protein:decreased expression:hippocampus
RGD
PMID:21538080
RGD:10449033
NCBI chr 7:2,242,226...2,251,145
Ensembl chr 7:2,242,226...2,251,146
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OPA1
OPA1 mitochondrial dynamin like GTPase
IEP
protein:decreased expression:brain
RGD
PMID:19605646
RGD:7800727
NCBI chr 3:193,593,208...193,697,811
Ensembl chr 3:193,593,144...193,697,811
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PAK1
p21 (RAC1) activated kinase 1
IEP
protein:altered localization
RGD
PMID:18347024
RGD:2299169
NCBI chr11:77,322,017...77,530,009
Ensembl chr11:77,322,017...77,474,635
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PARP1
poly(ADP-ribose) polymerase 1
susceptibility
ISO IAGP
protein:increased activity:brain: DNA:haplotypes:cds:rs1136410,rs1805404 (human) DNA:haplotypes: :
RGD
PMID:22051244 PMID:21616968 PMID:20486200 PMID:17290104
RGD:5510011 , RGD:10413888 , RGD:10413887 , RGD:10413885
NCBI chr 1:226,360,691...226,408,093
Ensembl chr 1:226,360,210...226,408,154
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PAWR
pro-apoptotic WT1 regulator
IEP
mRNA,protein:increased expression:brain:
RGD
PMID:9701251
RGD:9835364
NCBI chr12:79,584,879...79,690,964
Ensembl chr12:79,574,979...79,690,964
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PCDH11X
protocadherin 11 X-linked
EXP IAGP
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Alzheimer disease
CTD ClinVar
PMID:19136949 PMID:29476165
NCBI chr X:91,779,375...92,623,230
Ensembl chr X:91,779,261...92,623,230
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PCK1
phosphoenolpyruvate carboxykinase 1
disease_progression
IAGP
DNA:SNPs DNA:SNP: :rs8192708(human)
RGD
PMID:17440948 PMID:20574532
RGD:2311642 , RGD:10427727
NCBI chr20:57,561,110...57,568,121
Ensembl chr20:57,561,080...57,568,121
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PCMT1
protein-L-isoaspartate (D-aspartate) O-methyltransferase
IEP
mRNA:increased expression:cerebral cortex:
RGD
PMID:8736634
RGD:10448277
NCBI chr 6:149,749,695...149,811,421
Ensembl chr 6:149,749,444...149,811,420
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PCSK1N
proprotein convertase subtilisin/kexin type 1 inhibitor
IEP
RGD
PMID:14746899
RGD:1642360
NCBI chr X:48,831,096...48,835,610
Ensembl chr X:48,831,096...48,835,610
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PDE2A
phosphodiesterase 2A
treatment
ISO
RGD
PMID:22771768
RGD:10449025
NCBI chr11:72,576,141...72,674,422
Ensembl chr11:72,576,141...72,674,591
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PDGFB
platelet derived growth factor subunit B
IEP
protein:increased expression:plasma:
RGD
PMID:22279551
RGD:10449445
NCBI chr22:39,223,359...39,244,982
Ensembl chr22:39,223,359...39,244,982
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PEBP1
phosphatidylethanolamine binding protein 1
onset
ISO IEP
mRNA:decreased expression:hippocampus
RGD
PMID:15941609 PMID:10210891 PMID:11853019 PMID:7770119
RGD:2302869 , RGD:2302864 , RGD:2302863 , RGD:2302735
NCBI chr12:118,136,124...118,145,584
Ensembl chr12:118,136,124...118,145,584
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PGRMC1
progesterone receptor membrane component 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25390692
NCBI chr X:119,236,285...119,244,466
Ensembl chr X:119,236,245...119,244,466
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PHACTR2
phosphatase and actin regulator 2
IEP
mRNA: splice variants
RGD
PMID:20590401
RGD:6483097
NCBI chr 6:143,536,878...143,831,185
Ensembl chr 6:143,536,845...143,831,185
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PICALM
phosphatidylinositol binding clathrin assembly protein
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:19734902 PMID:21460841
NCBI chr11:85,957,175...86,069,860
Ensembl chr11:85,957,175...86,069,882
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PIK3CG
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma
ISO
RGD
PMID:20025958
RGD:6482689
NCBI chr 7:106,865,282...106,908,980
Ensembl chr 7:106,865,278...106,908,980
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PIK3R1
phosphoinositide-3-kinase regulatory subunit 1
onset
IAGP
DNA:polymorphism: :p.M326I (human)
RGD
PMID:12185156
RGD:1625215
NCBI chr 5:68,215,756...68,301,821
Ensembl chr 5:68,215,740...68,301,821
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PILRA
paired immunoglobin like type 2 receptor alpha
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:33589840
NCBI chr 7:100,371,291...100,400,096
Ensembl chr 7:100,367,530...100,400,096
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PIN1
peptidylprolyl cis/trans isomerase, NIMA-interacting 1
ISS
OMIM:104300 | OMIM:502500 | OMIM:604154 | OMIM:608907
MouseDO
NCBI chr19:9,835,318...9,849,689
Ensembl chr19:9,835,257...9,849,689
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PLAU
plasminogen activator, urokinase
no_association
ISO ISS IAGP EXP IEP
ClinVar Annotator: match by term: Alzheimer disease, late-onset, susceptibility to CTD Direct Evidence: marker/mechanism DNA:SNPs: :multiple mRNA:increased expression:brain
MouseDO ClinVar CTD RGD
PMID:12898287 PMID:15615772 PMID:15616835 PMID:16341549 PMID:28492532 PMID:21860091 PMID:18076107 PMID:19889475 PMID:21790972 More...
RGD:6483793 , RGD:6484115 , RGD:6483807 , RGD:6483794
NCBI chr10:73,909,164...73,917,494
Ensembl chr10:73,909,177...73,917,496
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PLCB1
phospholipase C beta 1
ISS IEP
OMIM:104300 | OMIM:502500 | OMIM:604154 | OMIM:608907
MouseDO RGD
PMID:8534418
RGD:13825140
NCBI chr20:8,132,266...8,884,900
Ensembl chr20:8,077,251...8,968,360
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PLCD1
phospholipase C delta 1
IEP IAGP
ClinVar Annotator: match by term: Alzheimer disease, early onset
ClinVar RGD
PMID:25741868 PMID:8534418
RGD:13825140
NCBI chr 3:38,007,496...38,029,642
Ensembl chr 3:38,007,496...38,029,642
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PLCG1
phospholipase C gamma 1
IEP
RGD
PMID:8534418
RGD:13825140
NCBI chr20:41,137,543...41,177,626
Ensembl chr20:41,136,960...41,196,801
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PLCG2
phospholipase C gamma 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28714976
NCBI chr16:81,739,041...81,962,685
Ensembl chr16:81,738,248...81,962,685
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PNMT
phenylethanolamine N-methyltransferase
onset
IAGP
DNA:snps:5' utr:g.-390G>A, g.-184G>A rs876493 (human)
RGD
PMID:11378842
RGD:5130171
NCBI chr17:39,668,019...39,670,475
Ensembl chr17:39,667,981...39,670,475
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PON1
paraoxonase 1
IAGP
DNA:polymorphisms:multiple SNPs
RGD
PMID:16319130
RGD:5509926
NCBI chr 7:95,297,676...95,324,532
Ensembl chr 7:95,297,676...95,324,532
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PON2
paraoxonase 2
IAGP
DNA:missense mutation:cds:p.C311S (human) DNA:SNPs:multiple
RGD
PMID:11803456 PMID:16319130
RGD:1580219 , RGD:5509926
NCBI chr 7:95,404,862...95,435,028
Ensembl chr 7:95,404,862...95,435,329
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PON3
paraoxonase 3
IAGP
DNA:polymorphisms:multiple SNPs
RGD
PMID:16319130
RGD:5509926
NCBI chr 7:95,359,872...95,396,375
Ensembl chr 7:95,359,872...95,396,375
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POTED
POTE ankyrin domain family member D
IAGP
ClinVar Annotator: match by term: Alzheimer disease
ClinVar
PMID:16369530 PMID:16921174 PMID:24691562
NCBI chr21:13,609,777...13,645,823
Ensembl chr21:13,609,777...13,645,823
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PPARA
peroxisome proliferator activated receptor alpha
no_association
IAGP
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 chr22:46,150,526...46,243,756
Ensembl chr22:46,150,521...46,243,755
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PPARG
peroxisome proliferator activated receptor gamma
no_association susceptibility
IAGP EXP
DNA:SNPs: :multiple (human) CTD Direct Evidence: marker/mechanism DNA:SNP:cds:p.P12A(human)
CTD RGD
PMID:15993441 PMID:16407166 PMID:30328325 PMID:18573313 PMID:17440948
RGD:2301852 , RGD:2311642
NCBI chr 3:12,287,368...12,434,344
Ensembl chr 3:12,287,368...12,434,356
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PPARGC1A
PPARG coactivator 1 alpha
disease_progression
ISO IEP
mRNA, protein:decreased expression:hippocampal formation (human)
RGD
PMID:22540007 PMID:22510382 PMID:19273754
RGD:6484260 , RGD:7242180 , RGD:7242017
NCBI chr 4:23,792,021...24,472,905
Ensembl chr 4:23,755,041...23,904,089
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PPP1R9B
protein phosphatase 1 regulatory subunit 9B
severity
ISO IEP
protein:decreased expression:cerebral cortex (mouse) protein:decreased expression:brain, synaptosome (human)
RGD
PMID:23764848 PMID:23764848
RGD:10043802 , RGD:10043802
NCBI chr17:50,133,737...50,150,677
Ensembl chr17:50,133,737...50,150,677
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PPP2R2B
protein phosphatase 2 regulatory subunit Bbeta
IAGP
DNA:repeat
RGD
PMID:21029765
RGD:5686295
NCBI chr 5:146,580,742...147,081,520
Ensembl chr 5:146,580,742...147,084,784
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PPP3R1
protein phosphatase 3 regulatory subunit B, alpha
disease_progression
IAGP ISO
DNA:SNP: :rs1868402 (human)
RGD
PMID:23727081 PMID:21223993
RGD:13830878 , RGD:13830879
NCBI chr 2:68,178,857...68,252,532
Ensembl chr 2:68,178,857...68,256,237
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PRKCB
protein kinase C beta
IEP
RGD
PMID:8534418
RGD:13825140
NCBI chr16:23,835,983...24,220,611
Ensembl chr16:23,835,983...24,220,611
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PRKN
parkin RBR E3 ubiquitin protein ligase
treatment
ISO IEP
protein:increased expression:vessel,astrocyte:
RGD
PMID:24105468 PMID:19716418
RGD:10412735 , RGD:10412736
NCBI chr 6:161,347,417...162,727,766
Ensembl chr 6:161,347,417...162,727,775
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PRNP
prion protein (Kanno blood group)
EXP IAGP
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Alzheimer disease, early-onset, susceptibility to
CTD ClinVar
PMID:1353341 PMID:1677164 PMID:1682813 PMID:1684089 PMID:1971924 PMID:2378641 PMID:2783132 PMID:7908444 PMID:8137139 PMID:9643750 PMID:9748018 PMID:9751723 PMID:9789072 PMID:10437852 PMID:10581230 PMID:10953203 PMID:11488277 PMID:11506406 PMID:11506411 PMID:11749972 PMID:11840201 PMID:12601712 PMID:12867116 PMID:12891686 PMID:14520676 PMID:14562104 PMID:14970845 PMID:15277640 PMID:15539564 PMID:15987701 PMID:16217673 PMID:16315279 PMID:16391566 PMID:16565881 PMID:16969862 PMID:17192785 PMID:18955686 PMID:19923577 PMID:25741868 PMID:28492532 More...
NCBI chr20:4,686,456...4,701,588
Ensembl chr20:4,686,350...4,701,590
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PSEN1
presenilin 1
IAGP ISS EXP IMP
DNA:missense mutations:cds:multiple (human) ClinVar Annotator: match by term: Alzheimer disease ClinVar Annotator: match by term: Early-Onset Familial Alzheimer Disease ClinVar Annotator: match by term: Familial Alzheimer disease CTD Direct Evidence: marker/mechanism
ClinVar MouseDO CTD RGD
PMID:7596406 PMID:8773614 PMID:9384602 PMID:9452052 PMID:9851443 PMID:9851450 PMID:9915968 PMID:10075646 PMID:10208579 PMID:10643802 PMID:11198283 PMID:11389157 PMID:11524469 PMID:12192622 PMID:12615638 PMID:15003276 PMID:15622541 PMID:16033913 PMID:16216949 PMID:16267640 PMID:16449385 PMID:16651627 PMID:16669732 PMID:16923167 PMID:16952411 PMID:17192785 PMID:17573346 PMID:17854491 PMID:17962197 PMID:18227305 PMID:18350357 PMID:18525293 PMID:18637955 PMID:18667258 PMID:19021905 PMID:19111578 PMID:19659892 PMID:19915487 PMID:20008660 PMID:20194882 PMID:20802216 PMID:21959359 PMID:22507317 PMID:22810102 PMID:22906081 PMID:23638752 PMID:23861362 PMID:23990795 PMID:24928124 PMID:25333068 PMID:25352456 PMID:25714973 PMID:25741868 PMID:25937274 PMID:26166206 PMID:26194182 PMID:26242991 PMID:26467025 PMID:27117003 PMID:27312774 PMID:27357204 PMID:27535542 PMID:27567873 PMID:27644130 PMID:27777022 PMID:27930341 PMID:28082723 PMID:28350801 PMID:28448946 PMID:28492532 PMID:28554858 PMID:28749476 PMID:29142009 PMID:30090657 PMID:30279455 PMID:31467635 PMID:31920494 PMID:32588886 PMID:33769986 PMID:34603009 PMID:34918018 PMID:35260199 PMID:7596406 PMID:29641600 More...
RGD:1302519 , RGD:13782044
NCBI chr14:73,136,417...73,223,691
Ensembl chr14:73,136,418...73,223,691
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PSEN2
presenilin 2
severity
IAGP EXP
DNA:missense mutation:cds:p.N141I (human) ClinVar Annotator: match by term: Alzheimer's disease ClinVar Annotator: match by term: Early-Onset Familial Alzheimer Disease ClinVar Annotator: match by term: Alzheimer disease CTD Direct Evidence: marker/mechanism DNA:missense mutations:cds:p.N141I, p.M239V (human)
ClinVar CTD RGD
PMID:9050898 PMID:9384602 PMID:11723295 PMID:12925374 PMID:14623725 PMID:15130954 PMID:15663477 PMID:16474849 PMID:16651627 PMID:17186461 PMID:17345043 PMID:17914065 PMID:18667258 PMID:19768372 PMID:20194882 PMID:21409510 PMID:22221884 PMID:22312439 PMID:22475797 PMID:22503161 PMID:23383383 PMID:23558482 PMID:23861362 PMID:23990795 PMID:24880964 PMID:25104557 PMID:25604855 PMID:25741868 PMID:25937274 PMID:26159191 PMID:26242991 PMID:26410308 PMID:26467025 PMID:26507310 PMID:26836416 PMID:26899768 PMID:28492532 PMID:30045758 PMID:30279455 PMID:31914229 PMID:32032730 PMID:32087291 PMID:32345996 PMID:32917274 PMID:10976645 PMID:9246481 More...
RGD:9743900 , RGD:1302522
NCBI chr 1:226,870,616...226,903,668
Ensembl chr 1:226,870,184...226,927,726
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PTGER4
prostaglandin E receptor 4
ISO
RGD
PMID:22044482
RGD:6483525
NCBI chr 5:40,679,915...40,746,800
Ensembl chr 5:40,679,915...40,693,735
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PTGS1
prostaglandin-endoperoxide synthase 1
ISO IEP
protein:increased expression:cerebral cortex
RGD
PMID:21701788 PMID:10560656 PMID:20157512
RGD:5688147 , RGD:5688249 , RGD:5688156
NCBI chr 9:122,370,533...122,395,703
Ensembl chr 9:122,370,530...122,395,703
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PTGS2
prostaglandin-endoperoxide synthase 2
ISO IEP
mRNA:decreased expression:neocortex, hippocampus
RGD
PMID:21701788 PMID:8892355 PMID:9740394
RGD:5688147 , RGD:5688254 , RGD:5688252
NCBI chr 1:186,671,791...186,680,423
Ensembl chr 1:186,671,791...186,680,922
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PTK2B
protein tyrosine kinase 2 beta
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:33589840
NCBI chr 8:27,310,506...27,459,391
Ensembl chr 8:27,311,482...27,459,391
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PTPN5
protein tyrosine phosphatase non-receptor type 5
severity
IEP ISO
protein:increased expression:prefrontal cortex (human) protein:increased expression:dentate gyrus (mouse)
RGD
PMID:20427654 PMID:16237174 PMID:20956308
RGD:9835008 , RGD:10044037 , RGD:9835007
NCBI chr11:18,727,928...18,792,721
Ensembl chr11:18,727,928...18,792,721
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PYY
peptide YY
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:11709213
NCBI chr17:43,952,733...44,004,445
Ensembl chr17:43,952,733...44,004,469
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RBM11
RNA binding motif protein 11
IAGP
ClinVar Annotator: match by term: Alzheimer disease
ClinVar
PMID:16369530 PMID:16921174 PMID:24691562
NCBI chr21:14,216,157...14,228,372
Ensembl chr21:14,216,130...14,228,372
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RCAN1
regulator of calcineurin 1
IDA
RGD
PMID:11483593
RGD:1580889
NCBI chr21:34,516,442...34,615,113
Ensembl chr21:34,513,142...34,615,113
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REG1A
regenerating family member 1 alpha
IEP
mRNA:increased expression:brain (human)
RGD
PMID:2394826
RGD:9850119
NCBI chr 2:79,120,488...79,123,409
Ensembl chr 2:79,120,362...79,123,409
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RELN
reelin
IEP EXP
protein:increased expression:cerebrospinal fluid (human) CTD Direct Evidence: marker/mechanism protein: increased expression: brain
CTD RGD
PMID:20610758 PMID:12645087 PMID:20025970
RGD:729771 , RGD:13207521
NCBI chr 7:103,471,789...103,989,658
Ensembl chr 7:103,471,381...103,989,658
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RUNX1
RUNX family transcription factor 1
IAGP
associated with Down Syndrome
RGD
PMID:20946940
RGD:6482829
NCBI chr21:35,372,507...35,580,764
Ensembl chr21:34,787,801...36,004,667
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S100B
S100 calcium binding protein B
severity
ISO IMP IEP
protein:decreased expression:cerebrospinal fluid
RGD
PMID:21080947 PMID:19705461 PMID:20105309 PMID:20953641
RGD:5508775 , RGD:5508798 , RGD:5508787 , RGD:5508780
NCBI chr21:46,598,604...46,605,082
Ensembl chr21:46,598,604...46,605,208
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SAMSN1
SAM domain, SH3 domain and nuclear localization signals 1
IAGP
ClinVar Annotator: match by term: Alzheimer disease
ClinVar
PMID:16369530 PMID:16921174 PMID:24691562
NCBI chr21:14,485,228...14,659,417
Ensembl chr21:14,485,228...14,658,821
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SELL
selectin L
severity
IEP
protein:decreased expression:plasma
RGD
PMID:21484243
RGD:5685677
NCBI chr 1:169,690,667...169,711,620
Ensembl chr 1:169,690,665...169,711,702
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SELP
selectin P
severity
IEP
protein:decreased expression:plasma
RGD
PMID:21484243
RGD:5685677
NCBI chr 1:169,588,849...169,630,124
Ensembl chr 1:169,588,849...169,630,193
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SERPINE2
serpin family E member 2
IDA
RGD
PMID:2813392
RGD:2317937
NCBI chr 2:223,975,045...224,039,286
Ensembl chr 2:223,975,045...224,039,318
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SERPINF1
serpin family F member 1
ISO IEP
protein:increased expression:cerebrospinal fluid, serum (human)
RGD
PMID:17073149 PMID:28320113
RGD:2312353 , RGD:27226702
NCBI chr17:1,762,060...1,777,565
Ensembl chr17:1,762,029...1,777,565
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SHC1
SHC adaptor protein 1
ISO
protein:increased phosphorylation:neuron
RGD
PMID:15837797
RGD:1643185
NCBI chr 1:154,962,298...154,974,376
Ensembl chr 1:154,962,298...154,974,395
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SIRT1
sirtuin 1
treatment
ISO
protein:increased expression:forebrain (mouse)
RGD
PMID:17581637 PMID:16751189
RGD:2290573 , RGD:10047116
NCBI chr10:67,884,656...67,918,390
Ensembl chr10:67,884,656...67,918,390
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SIRT3
sirtuin 3
IEP
mRNA:increased expression:temporal cortex
RGD
PMID:23139766
RGD:9586045
NCBI chr11:215,030...236,931
Ensembl chr11:215,030...236,931
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SLC18A3
solute carrier family 18 member A3
IEP ISO
mRNA, protein:decreased expression:frontal association cortex mRNA:decreased expression:cerebral cortex
RGD
PMID:21743130 PMID:21333939
RGD:5686430 , RGD:5686673
NCBI chr10:49,610,310...49,612,720
Ensembl chr10:49,610,310...49,612,720
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SLC25A4
solute carrier family 25 member 4
IEP
RGD
PMID:21958963
RGD:9681463
NCBI chr 4:185,143,266...185,150,382
Ensembl chr 4:185,143,266...185,150,382
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SLC2A1
solute carrier family 2 member 1
IEP
RGD
PMID:8179300
RGD:2313620
NCBI chr 1:42,925,353...42,958,868
Ensembl chr 1:42,925,353...42,958,893
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SLC2A3
solute carrier family 2 member 3
IEP
RGD
PMID:8179300
RGD:2313620
NCBI chr12:7,919,230...7,936,187
Ensembl chr12:7,919,230...8,019,007
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SLC2A4
solute carrier family 2 member 4
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:24055495
NCBI chr17:7,281,718...7,288,257
Ensembl chr17:7,281,718...7,288,257
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SLC30A4
solute carrier family 30 member 4
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:16580781
NCBI chr15:45,479,606...45,522,755
Ensembl chr15:45,479,606...45,522,755
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SLC30A6
solute carrier family 30 member 6
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:16580781
NCBI chr 2:32,165,864...32,224,379
Ensembl chr 2:32,165,841...32,224,379
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SLC8A1
solute carrier family 8 member A1
IEP
protein:altered expression:synaptosome:
RGD
PMID:21382638
RGD:13628395
NCBI chr 2:40,097,270...40,512,435
Ensembl chr 2:40,097,270...40,611,053
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SLC8A2
solute carrier family 8 member A2
IEP
protein:altered expression:synaptosome:
RGD
PMID:21382638
RGD:13628395
NCBI chr19:47,428,017...47,471,893
Ensembl chr19:47,428,017...47,471,893
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SLC8A3
solute carrier family 8 member A3
IEP
protein:altered expression:parietal cortex, synaptosome:
RGD
PMID:21382638
RGD:13628395
NCBI chr14:70,044,215...70,189,405
Ensembl chr14:70,044,215...70,189,480
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SNAP91
synaptosome associated protein 91
IEP ISO
protein:decreased expression:dentate gyrus molecular layer,hippocampus,entorhinal, tempocampal corteces: denntate gyrus, hippocampus, entorhinal cortex
RGD
PMID:20847448 PMID:20847448
RGD:13506238 , RGD:13506238
NCBI chr 6:83,552,885...83,709,393
Ensembl chr 6:83,552,880...83,709,691
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SNAR-I
small NF90 (ILF3) associated RNA I
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:30320580
NCBI chr 3:190,877,930...190,878,050
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SNCA
synuclein alpha
IMP IEP
human gene in a mouse model protein:increased expression:cerebrospinal fluid
RGD
PMID:11572944 PMID:18577885
RGD:1302528 , RGD:6478792
NCBI chr 4:89,724,099...89,838,304
Ensembl chr 4:89,700,345...89,838,315
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SNCB
synuclein beta
IEP
mRNA:decreased expression:brain
RGD
PMID:11578596
RGD:6480194
NCBI chr 5:176,620,082...176,630,534
Ensembl chr 5:176,620,082...176,630,556
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SNCG
synuclein gamma
IEP
protein:increased expression:cerebrospinal fluid
RGD
PMID:18577885
RGD:6478792
NCBI chr10:86,955,759...86,963,258
Ensembl chr10:86,958,599...86,963,258
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SNRNP70
small nuclear ribonucleoprotein U1 subunit 70
IEP
protein:increased expression:cerebral cortex (human)
RGD
PMID:24023061
RGD:10448959
NCBI chr19:49,085,451...49,108,604
Ensembl chr19:49,085,419...49,108,605
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SNRPA
small nuclear ribonucleoprotein polypeptide A
IEP
protein:increased expression:cerebral cortex (human)
RGD
PMID:24023061
RGD:10448959
NCBI chr19:40,751,203...40,765,389
Ensembl chr19:40,750,637...40,765,389
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SOD1
superoxide dismutase 1
ISO IEP
mRNA:altered expression:hippocampus, hypothalamus (rat) protein:decreased expression:frontal lobe (human)
RGD
PMID:22072713 PMID:20027333 PMID:22072713
RGD:8655610 , RGD:8657017 , RGD:8655610
NCBI chr21:31,659,693...31,668,931
Ensembl chr21:31,659,666...31,668,931
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SOD2
superoxide dismutase 2
IDA EXP
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:19374891 PMID:16369462
RGD:1579972
NCBI chr 6:159,669,069...159,762,281
Ensembl chr 6:159,669,069...159,762,529
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SORL1
sortilin related receptor 1
IDA
RGD
PMID:15313836
RGD:1581303
NCBI chr11:121,452,314...121,633,763
Ensembl chr11:121,452,314...121,633,763
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SPINT1
serine peptidase inhibitor, Kunitz type 1
IEP
protein:decreased expression:parietal cortex (human)
RGD
PMID:9743567
RGD:1581317
NCBI chr15:40,844,048...40,858,207
Ensembl chr15:40,844,018...40,858,207
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SPRED2
sprouty related EVH1 domain containing 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:33589840
NCBI chr 2:65,307,175...65,432,599
Ensembl chr 2:65,310,851...65,432,637
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STAT3
signal transducer and activator of transcription 3
IDA ISO
protein:decreased tyrosine phosphorylation:dentate gyrus protein:decreased tyrosine phosphorylation:dentate gyrus, CA1 field of hippocampus
RGD
PMID:18813209 PMID:18813209
RGD:10403051 , RGD:10403051
NCBI chr17:42,313,324...42,388,442
Ensembl chr17:42,313,324...42,388,568
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STOX1
storkhead box 1
severity
IEP
protein:increased expression:CA4 field of hippocampus (human)
RGD
PMID:20110611
RGD:11554028
NCBI chr10:68,827,531...68,895,432
Ensembl chr10:68,827,531...68,895,432
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SYP
synaptophysin
IEP ISO
protein:decreased expression:dentate gyrus molecular layer,hippocampus,entorhinal, tempocampal corteces: mRNA,protein:decreased expression:hippocampus, temporal cortex denntate gyrus, hippocampus, entorhinal cortex
RGD
PMID:20847448 PMID:20847448 PMID:20847448
RGD:13506238 , RGD:13506238 , RGD:13506238
NCBI chr X:49,187,815...49,200,193
Ensembl chr X:49,187,815...49,200,218
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TAP2
transporter 2, ATP binding cassette subfamily B member
susceptibility
IAGP
DNA:SNP: :(rs241448)(human)
RGD
PMID:16595160
RGD:6482265
NCBI chr 6:32,821,831...32,838,739
Ensembl chr 6:32,821,833...32,838,739
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TARDBP
TAR DNA binding protein
IEP ISO
protein:increased expression, phosphorylation:motor cortex protein:increased expression:brain
RGD
PMID:21376022 PMID:21070634
RGD:5687139 , RGD:5687178
NCBI chr 1:11,012,654...11,030,528
Ensembl chr 1:11,012,344...11,030,528
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TBP
TATA-box binding protein
IEP
protein:increased expression:hippocampus, entorhinal cortex (human)
RGD
PMID:15193429
RGD:5684338
NCBI chr 6:170,554,369...170,572,859
Ensembl chr 6:170,554,302...170,572,870
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TDO2
tryptophan 2,3-dioxygenase
treatment
ISO
RGD
PMID:27190010
RGD:13601984
NCBI chr 4:155,903,696...155,920,406
Ensembl chr 4:155,854,738...155,920,406
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TF
transferrin
EXP IAGP
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Transferrin variant C1/C2
CTD ClinVar
PMID:9272172 PMID:15060098 PMID:17192785 PMID:20029940 PMID:25741868 PMID:28492532 More...
NCBI chr 3:133,661,998...133,796,641
Ensembl chr 3:133,746,040...133,796,641
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TFAM
transcription factor A, mitochondrial
susceptibility
IAGP EXP
DNA:SNP: :rs1937 (human) CTD Direct Evidence: marker/mechanism DNA:SNP:intron:IVS4+113A>G (rs2306604) (human)
CTD RGD
PMID:17192785 PMID:21799244 PMID:17537576
RGD:6767575 , RGD:6771185
NCBI chr10:58,385,410...58,399,220
Ensembl chr10:58,385,345...58,399,220
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THBD
thrombomodulin
IEP
protein:increased expression:blood
RGD
PMID:15760641
RGD:5685018
NCBI chr20:23,045,633...23,049,672
Ensembl chr20:23,045,633...23,049,672
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TIMP2
TIMP metallopeptidase inhibitor 2
IEP
RGD
PMID:12614934
RGD:1580169
NCBI chr17:78,852,977...78,925,387
Ensembl chr17:78,852,977...78,925,387
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TLR4
toll like receptor 4
IAGP
RGD
PMID:16157451
RGD:1580680
NCBI chr 9:117,704,403...117,724,735
Ensembl chr 9:117,704,175...117,724,735
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TMED10
transmembrane p24 trafficking protein 10
IEP
protein:decreased expression:brain cortex (human)
RGD
PMID:18652896
RGD:2317276
NCBI chr14:75,131,469...75,176,612
Ensembl chr14:75,131,469...75,176,612
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TMPRSS15
transmembrane serine protease 15
IAGP
ClinVar Annotator: match by term: Alzheimer disease
ClinVar
PMID:16369530 PMID:16921174 PMID:24691562
NCBI chr21:18,269,116...18,485,884
Ensembl chr21:18,269,116...18,485,879
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TNF
tumor necrosis factor
no_association onset susceptibility
IAGP IEP EXP
DNA:polymorphism:promoter:multiple(human) DNA:polymorphism:promoter:-308G>A(human) protein:decreased expression:brain: DNA:haploltype:promoter:-863A>C,-308G>A(human) protein:increased secretion:serum: CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Alzheimer disease, protection against
CTD ClinVar RGD
PMID:10400991 PMID:16908746 PMID:17192785 PMID:12962917 PMID:18834925 PMID:15468911 PMID:9772027 PMID:16516271 PMID:16908746 PMID:18992723 PMID:18992723 More...
RGD:1580320 , RGD:13825257 , RGD:13825256 , RGD:13825255 , RGD:13825253 , RGD:13825250 , RGD:13825248 , RGD:13825248
NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
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TNFRSF1A
TNF receptor superfamily member 1A
no_association
IEP ISO
protein:increased expression:brain: protein:increased expression:cerebrospinal fluid:
RGD
PMID:20110607 PMID:21978728 PMID:17724122 PMID:17267158
RGD:13825249 , RGD:13825268 , RGD:13825267 , RGD:13825266
NCBI chr12:6,328,771...6,342,076
Ensembl chr12:6,328,757...6,342,114
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TNFRSF1B
TNF receptor superfamily member 1B
IEP
protein:decreased expression:brain: protein:increased expression:cerebrospinal fluid:
RGD
PMID:20110607 PMID:21978728
RGD:13825249 , RGD:13825268
NCBI chr 1:12,166,991...12,209,220
Ensembl chr 1:12,166,991...12,209,228
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TOMM40
translocase of outer mitochondrial membrane 40
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:27023435 PMID:29107063 PMID:30319691 PMID:30320580
NCBI chr19:44,891,254...44,903,689
Ensembl chr19:44,890,569...44,903,689
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TP53
tumor protein p53
ISO
RGD
PMID:17581637
RGD:2290573
NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,546
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TPH1
tryptophan hydroxylase 1
IAGP
RGD
PMID:15182943
RGD:1580467
NCBI chr11:18,017,555...18,046,269
Ensembl chr11:18,017,555...18,046,269
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TPI1
triosephosphate isomerase 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:19374891
NCBI chr12:6,867,420...6,870,948
Ensembl chr12:6,867,119...6,870,948
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TPP1
tripeptidyl peptidase 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:10320038
NCBI chr11:6,612,768...6,619,422
Ensembl chr11:6,612,768...6,619,448
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TREM2
triggering receptor expressed on myeloid cells 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:24663666 PMID:28714976
NCBI chr 6:41,158,508...41,163,116
Ensembl chr 6:41,158,506...41,163,186
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TSC2
TSC complex subunit 2
IEP
RGD
PMID:16341938
RGD:1580518
NCBI chr16:2,047,985...2,089,491
Ensembl chr16:2,047,967...2,089,491
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TSPAN14
tetraspanin 14
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:33589840
NCBI chr10:80,454,310...80,522,631
Ensembl chr10:80,454,265...80,533,124
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TTR
transthyretin
IDA
RGD
PMID:16552785
RGD:1580525
NCBI chr18:31,591,877...31,598,821
Ensembl chr18:31,557,009...31,598,833
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UCHL1
ubiquitin C-terminal hydrolase L1
IDA
RGD
PMID:14722078
RGD:1580538
NCBI chr 4:41,256,928...41,268,455
Ensembl chr 4:41,256,413...41,268,455
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UCP1
uncoupling protein 1
IEP
protein:decreased expression:plasma (human)
RGD
PMID:24498895
RGD:10045648
NCBI chr 4:140,559,431...140,568,961
Ensembl chr 4:140,559,431...140,568,961
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UQCRC1
ubiquinol-cytochrome c reductase core protein 1
IDA IEP
DNA:hypermethylation:promoter: protein:decreased expression:temporal cortex
RGD
PMID:26943237 PMID:11130185
RGD:11572212 , RGD:13831335
NCBI chr 3:48,599,002...48,609,646
Ensembl chr 3:48,599,002...48,610,976
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USP25
ubiquitin specific peptidase 25
IAGP
ClinVar Annotator: match by term: Alzheimer disease
ClinVar
PMID:16369530 PMID:16921174 PMID:24691562
NCBI chr21:15,729,982...15,880,064
Ensembl chr21:15,729,982...15,880,064
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VCP
valosin containing protein
IAGP
ClinVar Annotator: match by term: Alzheimer disease
ClinVar
PMID:30279455
NCBI chr 9:35,056,064...35,072,625
Ensembl chr 9:35,053,928...35,072,668
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VEGFA
vascular endothelial growth factor A
IAGP EXP
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:15732116 PMID:15732116
RGD:1580571
NCBI chr 6:43,770,211...43,786,487
Ensembl chr 6:43,770,184...43,786,487
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VIM
vimentin
IEP ISO
protein:increased expression:brain
RGD
PMID:19728994 PMID:19728994
RGD:6480519 , RGD:6480519
NCBI chr10:17,228,241...17,237,593
Ensembl chr10:17,228,241...17,237,593
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VLDLR
very low density lipoprotein receptor
IAGP
DNA:repeat
RGD
PMID:7550352
RGD:737739
NCBI chr 9:2,621,787...2,660,056
Ensembl chr 9:2,621,182...2,660,056
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VPS13C
vacuolar protein sorting 13 homolog C
IAGP
ClinVar Annotator: match by term: Alzheimer disease, early onset
ClinVar
PMID:25741868
NCBI chr15:61,852,389...62,060,447
Ensembl chr15:61,852,389...62,060,473
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VSNL1
visinin like 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25806004
NCBI chr 2:17,539,972...17,657,018
Ensembl chr 2:17,539,126...17,657,018
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WT1
WT1 transcription factor
IDA
RGD
PMID:12914969
RGD:1580623
NCBI chr11:32,387,775...32,435,539
Ensembl chr11:32,387,775...32,435,564
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WWOX
WW domain containing oxidoreductase
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:30820047
NCBI chr16:78,099,654...79,212,667
Ensembl chr16:78,099,400...79,212,667
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XRN1
5'-3' exoribonuclease 1
susceptibility
IAGP
DNA:snp:intron:c.1883+365T>C (rs1351965) (human)
RGD
PMID:22984654
RGD:11528589
NCBI chr 3:142,306,610...142,448,037
Ensembl chr 3:142,306,607...142,448,062
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APP
amyloid beta precursor protein
IAGP
ClinVar Annotator: match by term: Alzheimer disease type 1 ClinVar Annotator: match by term: APP-related condition ClinVar Annotator: match by term: APP POLYMORPHISM
ClinVar OMIM
PMID:1303172 PMID:1303239 PMID:1303275 PMID:1415269 PMID:1520398 PMID:1584464 PMID:1634237 PMID:1671712 PMID:1674311 PMID:1678057 PMID:1678058 PMID:1679288 PMID:1908231 PMID:1925564 PMID:1944558 PMID:7611715 PMID:7686976 PMID:7806491 PMID:7845465 PMID:8154870 PMID:8191290 PMID:8290965 PMID:8410047 PMID:8461968 PMID:8499923 PMID:8513318 PMID:8577393 PMID:8644866 PMID:8649577 PMID:8650548 PMID:8863158 PMID:8886002 PMID:9328472 PMID:9536098 PMID:9754958 PMID:9848098 PMID:10097173 PMID:10441572 PMID:10611368 PMID:10631141 PMID:10821838 PMID:10867787 PMID:11004129 PMID:11063718 PMID:11311152 PMID:11487570 PMID:11528419 PMID:11568920 PMID:11910111 PMID:11978821 PMID:12034808 PMID:12552037 PMID:12707272 PMID:14623725 PMID:14769392 PMID:15365148 PMID:15488330 PMID:15502844 PMID:15668448 PMID:15776278 PMID:16033913 PMID:16505331 PMID:16931535 PMID:17170111 PMID:17493013 PMID:17576681 PMID:18187157 PMID:18234110 PMID:18413473 PMID:18437002 PMID:19281847 PMID:19363265 PMID:19950418 PMID:20005601 PMID:20063202 PMID:20301414 PMID:20452980 PMID:20452985 PMID:20523046 PMID:20634584 PMID:21210284 PMID:21777674 PMID:21980910 PMID:22312439 PMID:22503161 PMID:22702962 PMID:23143229 PMID:23224319 PMID:23380992 PMID:23515184 PMID:24033266 PMID:24278680 PMID:24390130 PMID:24524897 PMID:24650794 PMID:24677022 PMID:24694184 PMID:24880964 PMID:24949887 PMID:25053581 PMID:25104557 PMID:25137638 PMID:25138979 PMID:25174650 PMID:25604855 PMID:25703165 PMID:25741868 PMID:25948718 PMID:26242991 PMID:26402770 PMID:26444762 PMID:26467025 PMID:26803359 PMID:26888304 PMID:27312774 PMID:27777022 PMID:27838006 PMID:28304299 PMID:28350801 PMID:28492532 PMID:28985224 PMID:29263818 PMID:29455155 PMID:29459625 PMID:29692703 PMID:29770843 PMID:29859640 PMID:30045758 PMID:30114415 PMID:30279455 PMID:31011484 PMID:31719132 PMID:32087291 PMID:32317127 PMID:32775599 PMID:32908482 PMID:32917274 PMID:33268848 PMID:33445953 PMID:33601107 PMID:35861376 PMID:36133075 PMID:38137339 More...
NCBI chr21:25,880,550...26,171,128
Ensembl chr21:25,880,535...26,171,128
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APP-DT
APP divergent transcript
IAGP
ClinVar Annotator: match by term: APP-related condition
ClinVar
PMID:28492532
NCBI chr21:26,170,867...26,217,384
Ensembl chr21:26,170,871...26,217,381
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BLMH
bleomycin hydrolase
IAGP
ClinVar Annotator: match by term: BLEOMYCIN HYDROLASE POLYMORPHISM
ClinVar
PMID:8639621 PMID:25741868
NCBI chr17:30,248,203...30,291,944
Ensembl chr17:30,248,203...30,292,056
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HFE
homeostatic iron regulator
IAGP
ClinVar Annotator: match by term: Alzheimer disease type 1
ClinVar
PMID:678784 PMID:8696333 PMID:8896549 PMID:8896550 PMID:8931958 PMID:9024376 PMID:9138148 PMID:9162021 PMID:9211748 PMID:9321765 PMID:9326341 PMID:9328324 PMID:9341868 PMID:9356458 PMID:9439654 PMID:9462220 PMID:9482831 PMID:9585606 PMID:9851896 PMID:9851897 PMID:10194428 PMID:10381492 PMID:10401000 PMID:10431233 PMID:10575540 PMID:10660483 PMID:11040194 PMID:11336458 PMID:11532995 PMID:11812557 PMID:11903354 PMID:12241803 PMID:12377814 PMID:12429850 PMID:12436244 PMID:12542741 PMID:12584229 PMID:12693884 PMID:12707220 PMID:12915468 PMID:14618419 PMID:14729817 PMID:15060098 PMID:15070663 PMID:15254010 PMID:15280838 PMID:15347835 PMID:15350019 PMID:15858186 PMID:16132052 PMID:16199547 PMID:16879202 PMID:17389307 PMID:17450498 PMID:17828789 PMID:18199861 PMID:18499578 PMID:18504828 PMID:18566337 PMID:19084217 PMID:19159930 PMID:19429178 PMID:19444013 PMID:19554541 PMID:19681031 PMID:20107990 PMID:20301613 PMID:20471131 PMID:21243428 PMID:21452290 PMID:22531912 PMID:23178241 PMID:23953397 PMID:24033266 PMID:24604426 PMID:25457201 PMID:25728773 PMID:25741868 PMID:25741869 PMID:25850353 PMID:26153218 PMID:26365338 PMID:27124787 PMID:27173269 PMID:27518069 PMID:27659401 PMID:27890643 PMID:28492532 PMID:29404719 PMID:31061747 PMID:31335359 PMID:31436889 PMID:31980526 PMID:32153640 PMID:37260121 More...
NCBI chr 6:26,087,429...26,098,343
Ensembl chr 6:26,087,226...26,098,343
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HFE-AS1
HFE antisense RNA 1
IAGP
ClinVar Annotator: match by term: Alzheimer disease type 1
ClinVar
PMID:10194428 PMID:10660483 PMID:11336458 PMID:12377814 PMID:12584229 PMID:15350019 PMID:16199547 PMID:19159930 PMID:19681031 PMID:20107990 PMID:20301613 PMID:21452290 PMID:25741868 PMID:26153218 PMID:27173269 PMID:27518069 PMID:28492532 PMID:29404719 More...
NCBI chr 6:26,086,290...26,091,034
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LOC106694316
enhancer region in introns 7-9 of MPO
IAGP
ClinVar Annotator: match by term: Alzheimer disease type 1
ClinVar
PMID:7904599 PMID:8142659 PMID:8621627 PMID:9468285 PMID:9507022 PMID:15108282 PMID:17384005 PMID:18273043 PMID:25741868 PMID:27013444 PMID:31589614 PMID:32531373 PMID:32758447 PMID:32758448 More...
NCBI chr17:58,272,255...58,277,462
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LOC126653330
CDK7 strongly-dependent group 2 enhancer GRCh37_chr21:27326978-27328177
IAGP
ClinVar Annotator: match by term: APP-related condition
ClinVar
PMID:9536098 PMID:17576681 PMID:28492532
NCBI chr21:25,954,664...25,955,863
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LOC126862530
CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:28575475-28576674
IAGP
ClinVar Annotator: match by term: BLEOMYCIN HYDROLASE POLYMORPHISM
ClinVar
PMID:8639621 PMID:25741868
NCBI chr17:30,248,457...30,249,656
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LPO
lactoperoxidase
IAGP
ClinVar Annotator: match by term: Alzheimer disease type 1
ClinVar
PMID:6260268 PMID:9766845 PMID:15108282 PMID:24033266 PMID:25741868 PMID:26764160 PMID:26822949 PMID:30487145 PMID:31980526 PMID:32531373 PMID:32758447 PMID:32758448 PMID:34426522 More...
NCBI chr17:58,238,584...58,268,518
Ensembl chr17:58,218,548...58,268,518
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MPO
myeloperoxidase
IAGP
ClinVar Annotator: match by term: Alzheimer disease type 1
ClinVar OMIM
PMID:6260268 PMID:7904599 PMID:8142659 PMID:8621627 PMID:9468285 PMID:9507022 PMID:9766845 PMID:15108282 PMID:17384005 PMID:18273043 PMID:24033266 PMID:25741868 PMID:26764160 PMID:26822949 PMID:27013444 PMID:28492532 PMID:30487145 PMID:31589614 PMID:31980526 PMID:32531373 PMID:32758447 PMID:32758448 PMID:34426522 More...
NCBI chr17:58,269,855...58,280,935
Ensembl chr17:58,269,855...58,280,935
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NOS3
nitric oxide synthase 3
IAGP
ClinVar Annotator: match by term: Alzheimer disease type 1
ClinVar
PMID:25741868
NCBI chr 7:150,991,017...151,014,588
Ensembl chr 7:150,991,017...151,014,588
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PLAU
plasminogen activator, urokinase
IAGP
OMIM
NCBI chr10:73,909,164...73,917,494
Ensembl chr10:73,909,177...73,917,496
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TREM2
triggering receptor expressed on myeloid cells 2
IAGP
OMIM
NCBI chr 6:41,158,508...41,163,116
Ensembl chr 6:41,158,506...41,163,186
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ADAM10
ADAM metallopeptidase domain 10
IAGP
ClinVar Annotator: match by term: Alzheimer disease 18
ClinVar OMIM
PMID:19608551 PMID:24055016 PMID:25741868
NCBI chr15:58,588,809...58,749,707
Ensembl chr15:58,588,809...58,749,791
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PLD3
phospholipase D family member 3
IAGP
ClinVar Annotator: match by term: Alzheimer disease 19
ClinVar
PMID:24336208 PMID:25832408 PMID:25832410 PMID:25832411 PMID:25832412 PMID:28492532 More...
NCBI chr19:40,348,695...40,378,485
Ensembl chr19:40,348,456...40,389,472
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APOE
apolipoprotein E
IAGP EXP
ClinVar Annotator: match by term: Late-onset familial alzheimer disease ClinVar Annotator: match by term: Alzheimer disease 2 ClinVar Annotator: match by term: Alzheimer disease associated with APOE E4 | ClinVar Annotator: match by term: Late-onset familial alzheimer disease CTD Direct Evidence: marker/mechanism
ClinVar OMIM CTD
PMID:2987927 PMID:3353383 PMID:3922972 PMID:7263700 PMID:8294487 PMID:8346443 PMID:8350998 PMID:8488843 PMID:8618665 PMID:8644717 PMID:9279208 PMID:9343467 PMID:9360638 PMID:9932938 PMID:10213549 PMID:10799751 PMID:11835377 PMID:11940689 PMID:11940706 PMID:14741101 PMID:15048896 PMID:15146461 PMID:15184602 PMID:15326261 PMID:15557508 PMID:15668424 PMID:18338393 PMID:18979180 PMID:18987351 PMID:19605830 PMID:19846850 PMID:21742527 PMID:22381401 PMID:22949395 PMID:23060451 PMID:23296339 PMID:23571587 PMID:24033266 PMID:24126160 PMID:25741868 PMID:27260402 PMID:28492532 PMID:29842932 PMID:32376954 PMID:32808727 PMID:33679311 PMID:34058468 PMID:35120450 PMID:35460704 PMID:35628605 PMID:35639372 PMID:37128917 More...
NCBI chr19:44,905,796...44,909,393
Ensembl chr19:44,905,791...44,909,393
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APOE
apolipoprotein E
IAGP
ClinVar Annotator: match by term: Alzheimer disease 3 ClinVar Annotator: match by term: ALZHEIMER DISEASE, FAMILIAL, 3 ClinVar Annotator: match by term: ALZHEIMER DISEASE, FAMILIAL, 3 | ClinVar Annotator: match by term: Alzheimer disease 3
ClinVar OMIM
PMID:8488843 PMID:9279208 PMID:9360638 PMID:10432380 PMID:10529625 PMID:18077821 PMID:22949395 PMID:24126160 PMID:25741868 PMID:28492532 PMID:32808727 PMID:35120450 PMID:35460704 PMID:35628605 PMID:35639372 PMID:37128917 More...
NCBI chr19:44,905,796...44,909,393
Ensembl chr19:44,905,791...44,909,393
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KIF5C
kinesin family member 5C
IEP
protein:decreased expression:cerebellum (human)
RGD
PMID:24569455
RGD:12859086
NCBI chr 2:148,875,227...149,026,759
Ensembl chr 2:148,875,227...149,026,759
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LRRK2
leucine rich repeat kinase 2
IAGP
ClinVar Annotator: match by term: Early onset Alzheimer disease with behavioral disturbance
ClinVar
PMID:18412265 PMID:18688798 PMID:18716801 PMID:18781329 PMID:19699188 PMID:20301387 PMID:20642453 PMID:21885347 PMID:25243190 PMID:25741868 PMID:26930193 PMID:28492532 More...
NCBI chr12:40,224,997...40,369,285
Ensembl chr12:40,196,744...40,369,285
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PSEN1
presenilin 1
IAGP ISS
ClinVar Annotator: match by term: ALZHEIMER DISEASE, FAMILIAL, 3 ClinVar Annotator: match by term: Alzheimer disease 3 ClinVar Annotator: match by term: ALZHEIMER DISEASE, FAMILIAL, 3 | ClinVar Annotator: match by term: Alzheimer disease 3 OMIM:607822 ClinVar Annotator: match by term: Early onset Alzheimer disease with behavioral disturbance
OMIM ClinVar MouseDO
PMID:1985297 PMID:2025423 PMID:2793034 PMID:7550356 PMID:7581374 PMID:7585193 PMID:7596406 PMID:7623584 PMID:7623585 PMID:7651536 PMID:7824141 PMID:7942850 PMID:8538334 PMID:8634711 PMID:8634712 PMID:8733303 PMID:8733749 PMID:8742474 PMID:8755489 PMID:8773614 PMID:8837617 PMID:8905716 PMID:8910898 PMID:8931704 PMID:8962160 PMID:8986743 PMID:9007097 PMID:9007311 PMID:9051814 PMID:9052708 PMID:9126060 PMID:9172170 PMID:9189043 PMID:9196071 PMID:9225696 PMID:9292884 PMID:9347932 PMID:9384602 PMID:9436726 PMID:9437013 PMID:9443865 PMID:9450754 PMID:9452052 PMID:9502232 PMID:9507958 PMID:9521418 PMID:9521423 PMID:9536098 PMID:9540849 PMID:9544835 PMID:9546792 PMID:9680315 PMID:9712537 PMID:9728730 PMID:9804121 PMID:9811326 PMID:9831473 PMID:9833068 PMID:9851443 PMID:9851450 PMID:9915968 PMID:10075646 PMID:10090481 PMID:10327206 PMID:10366599 PMID:10401002 PMID:10430510 PMID:10439444 PMID:10441572 PMID:10447269 PMID:10448055 PMID:10468510 PMID:10502791 PMID:10525535 PMID:10533070 PMID:10548420 PMID:10549825 PMID:10594046 PMID:10631141 PMID:10643802 PMID:10720282 PMID:10754226 PMID:10764737 PMID:10775535 PMID:10783295 PMID:10811883 PMID:10854108 PMID:11013240 PMID:11027672 PMID:11043553 PMID:11070093 PMID:11079548 PMID:11094121 PMID:11094128 PMID:11102478 PMID:11124426 PMID:11126202 PMID:11157069 PMID:11198283 PMID:11389157 PMID:11395394 PMID:11402113 PMID:11432849 PMID:11489281 PMID:11504726 PMID:11524469 PMID:11568920 PMID:11684347 PMID:11701593 PMID:11710891 PMID:11764087 PMID:11796781 PMID:11836371 PMID:11895378 PMID:11920851 PMID:11959395 PMID:11978814 PMID:11992262 PMID:12048239 PMID:12111359 PMID:12119298 PMID:12192622 PMID:12370477 PMID:12392798 PMID:12433263 PMID:12484344 PMID:12493631 PMID:12493737 PMID:12549925 PMID:12552037 PMID:12615638 PMID:12660785 PMID:12752408 PMID:12805290 PMID:12810495 PMID:12817569 PMID:12885573 PMID:12891668 PMID:14557582 PMID:14623725 PMID:14743455 PMID:14769392 PMID:14966176 PMID:15003276 PMID:15004326 PMID:15094846 PMID:15115757 PMID:15119739 PMID:15122701 PMID:15205973 PMID:15272895 PMID:15337637 PMID:15534260 PMID:15622541 PMID:15718035 PMID:15772361 PMID:15776278 PMID:16033913 PMID:16116115 PMID:16199547 PMID:16216949 PMID:16227967 PMID:16267640 PMID:16344340 PMID:16533963 PMID:16534109 PMID:16628450 PMID:16651627 PMID:16669732 PMID:16710641 PMID:16752394 PMID:16897084 PMID:16923167 PMID:16930450 PMID:16941492 PMID:16952411 PMID:16959576 PMID:17108181 PMID:17108687 PMID:17186461 PMID:17188713 PMID:17197420 PMID:17254019 PMID:17288597 PMID:17320044 PMID:17366635 PMID:17431506 PMID:17493013 PMID:17502474 PMID:17545141 PMID:17553989 PMID:17576681 PMID:17615170 PMID:17854491 PMID:17931627 PMID:17962197 PMID:17968601 PMID:18024701 PMID:18045903 PMID:18350357 PMID:18479822 PMID:18482978 PMID:18525293 PMID:18580586 PMID:18587238 PMID:18637955 PMID:18667258 PMID:18760694 PMID:18797263 PMID:19005074 PMID:19021905 PMID:19111578 PMID:19196715 PMID:19276550 PMID:19276551 PMID:19430857 PMID:19457079 PMID:19555742 PMID:19659892 PMID:19667325 PMID:19776335 PMID:19849793 PMID:19912322 PMID:19915487 PMID:20047059 PMID:20049724 PMID:20083199 PMID:20145736 PMID:20157243 PMID:20164095 PMID:20194882 PMID:20205669 PMID:20301414 PMID:20332427 PMID:20460383 PMID:20481270 PMID:20484632 PMID:20628413 PMID:20634584 PMID:20729396 PMID:20847418 PMID:21094210 PMID:21335660 PMID:21357415 PMID:21373759 PMID:21422519 PMID:21531718 PMID:21559198 PMID:21559374 PMID:21685457 PMID:21725313 PMID:21726674 PMID:21822699 PMID:21919498 PMID:21952501 PMID:21959359 PMID:22115042 PMID:22118943 PMID:22188655 PMID:22221884 PMID:22232349 PMID:22242180 PMID:22306804 PMID:22312439 PMID:22343824 PMID:22426017 PMID:22460587 PMID:22461631 PMID:22475797 PMID:22503161 PMID:22505025 PMID:22508690 PMID:22517194 PMID:22572737 PMID:22581678 PMID:22584618 PMID:22689192 PMID:22766738 PMID:22810102 PMID:22906081 PMID:22956200 PMID:23085935 PMID:23114514 PMID:23123781 PMID:23341831 PMID:23380992 PMID:23383383 PMID:23409063 PMID:23483213 PMID:23539189 PMID:23570890 PMID:23579325 PMID:23588422 PMID:23638752 PMID:23705774 PMID:23752245 PMID:23792692 PMID:23843529 PMID:23850332 PMID:23861362 PMID:23885714 PMID:23990795 PMID:24011544 PMID:24093083 PMID:24121961 PMID:24158021 PMID:24217025 PMID:24304563 PMID:24352661 PMID:24418614 PMID:24463146 PMID:24559647 PMID:24625695 PMID:24698269 PMID:24773620 PMID:24860142 PMID:24880964 PMID:24918054 PMID:24928124 PMID:25027006 PMID:25108559 PMID:25174650 PMID:25182737 PMID:25217249 PMID:25239621 PMID:25285942 PMID:25299611 PMID:25323700 PMID:25326637 PMID:25333068 PMID:25394380 PMID:25471389 PMID:25741723 PMID:25741868 PMID:25921538 PMID:25937274 PMID:25959826 PMID:26051801 PMID:26142917 PMID:26166206 PMID:26194182 PMID:26214276 PMID:26242991 PMID:26243271 PMID:26337232 PMID:26396515 PMID:26410308 PMID:26438723 PMID:26462451 PMID:26467025 PMID:26481686 PMID:26549787 PMID:26756738 PMID:26826204 PMID:26888304 PMID:26923592 PMID:26925509 PMID:27014028 PMID:27014058 PMID:27073747 PMID:27100199 PMID:27100200 PMID:27206484 PMID:27264813 PMID:27312774 PMID:27345973 PMID:27357204 PMID:27454811 PMID:27535542 PMID:27540966 PMID:27614114 PMID:27622770 PMID:27644130 PMID:27777022 PMID:27793474 PMID:27810638 PMID:27816212 PMID:27836335 PMID:27926491 PMID:27930341 PMID:28003435 PMID:28008242 PMID:28082723 PMID:28269784 PMID:28323683 PMID:28350801 PMID:28492532 PMID:28532646 PMID:28550247 PMID:28554858 PMID:28749476 PMID:28753424 PMID:28767663 PMID:28985224 PMID:29091718 PMID:29142009 PMID:29316780 PMID:29404783 PMID:29494861 PMID:29525180 PMID:29571857 PMID:29661148 PMID:29692703 PMID:29874583 PMID:30021643 PMID:30045758 PMID:30054184 PMID:30090657 PMID:30138848 PMID:30200536 PMID:30279455 PMID:30412504 PMID:30528841 PMID:30567237 PMID:30590039 PMID:30598257 PMID:30630874 PMID:30716424 PMID:30745123 PMID:30797548 PMID:30814350 PMID:30822634 PMID:30924900 PMID:30954774 PMID:31109937 PMID:31153663 PMID:31177233 PMID:31235249 PMID:31381512 PMID:31440394 PMID:31536626 PMID:31686034 PMID:31847883 PMID:31914229 PMID:31920494 PMID:31996268 PMID:32032730 PMID:32087291 PMID:32103039 PMID:32105841 PMID:32328830 PMID:32395715 PMID:32556937 PMID:32579498 PMID:32590294 PMID:32594361 PMID:32894632 PMID:32917274 PMID:33188013 PMID:33188256 PMID:33203472 PMID:33274538 PMID:33413468 PMID:33440141 PMID:33571524 PMID:33855944 PMID:34102969 PMID:34220489 PMID:34319632 PMID:34331941 PMID:34366350 PMID:34389718 PMID:34776449 PMID:34901437 PMID:34918018 PMID:35065037 PMID:35260199 PMID:35278341 PMID:35365805 PMID:35645353 PMID:35847683 PMID:35949106 PMID:36142879 PMID:37712079 PMID:38281098 PMID:38899694 More...
NCBI chr14:73,136,417...73,223,691
Ensembl chr14:73,136,418...73,223,691
G
APOE
apolipoprotein E
EXP IAGP
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Alzheimer disease familial type 4 ClinVar Annotator: match by term: Alzheimer disease 4 | ClinVar Annotator: match by term: Alzheimer disease familial type 4
CTD ClinVar
PMID:2987927 PMID:3353383 PMID:3922972 PMID:7263700 PMID:8294487 PMID:8346443 PMID:8350998 PMID:8488843 PMID:8618665 PMID:8644717 PMID:9279208 PMID:9343467 PMID:9360638 PMID:9932938 PMID:10213152 PMID:10213549 PMID:10799751 PMID:11068149 PMID:11835377 PMID:11940689 PMID:11940706 PMID:14741101 PMID:15048896 PMID:15146461 PMID:15184602 PMID:15326261 PMID:15557508 PMID:15668424 PMID:16621646 PMID:18338393 PMID:18979180 PMID:18987351 PMID:19605830 PMID:19846850 PMID:21742527 PMID:22381401 PMID:22949395 PMID:23060451 PMID:23296339 PMID:23571587 PMID:24033266 PMID:24082139 PMID:24126160 PMID:24644280 PMID:25741868 PMID:26802169 PMID:27260402 PMID:28492532 PMID:29842932 PMID:32058863 PMID:32376954 PMID:32808727 PMID:35120450 PMID:35339733 PMID:35460704 PMID:35628605 PMID:35639372 PMID:36528961 PMID:37128917 More...
NCBI chr19:44,905,796...44,909,393
Ensembl chr19:44,905,791...44,909,393
G
LOC129388763
MPRA-validated peak736 silencer
IAGP
ClinVar Annotator: match by term: Alzheimer disease 4
ClinVar
PMID:18834536 PMID:20375137 PMID:24704512 PMID:28492532
NCBI chr 1:226,882,154...226,882,354
G
LOC129932678
ATAC-STARR-seq lymphoblastoid silent region 1893
IAGP
ClinVar Annotator: match by term: Alzheimer disease 4
ClinVar
PMID:25741868
NCBI chr 1:226,870,419...226,871,018
G
LOC129932680
ATAC-STARR-seq lymphoblastoid active region 2673
IAGP
ClinVar Annotator: match by term: Alzheimer disease 4
ClinVar
PMID:18834536 PMID:20375137 PMID:24704512 PMID:28492532
NCBI chr 1:226,882,874...226,883,033
G
PSEN1
presenilin 1
IAGP
ClinVar Annotator: match by term: Alzheimer disease 4
ClinVar
PMID:8910898 PMID:9189043 PMID:9437013 PMID:9804121 PMID:10468510 PMID:11395394 PMID:12552037 PMID:14743455 PMID:15205973 PMID:16267640 PMID:17188713 PMID:20301414 PMID:23539189 PMID:25108559 PMID:26410308 PMID:26467025 PMID:27014028 PMID:27777022 PMID:27930341 PMID:28350801 PMID:28492532 PMID:29494861 PMID:29661148 PMID:30045758 PMID:30528841 PMID:30598257 PMID:31109937 PMID:32917274 PMID:34389718 More...
NCBI chr14:73,136,417...73,223,691
Ensembl chr14:73,136,418...73,223,691
G
PSEN2
presenilin 2
IAGP EXP
ClinVar Annotator: match by term: Alzheimer disease 4 ClinVar Annotator: match by term: Alzheimer disease familial type 4 ClinVar Annotator: match by term: Alzheimer disease 4 | ClinVar Annotator: match by term: Alzheimer disease familial type 4 CTD Direct Evidence: marker/mechanism
ClinVar CTD OMIM
PMID:7638622 PMID:7651536 PMID:8661049 PMID:8939861 PMID:8986743 PMID:9050898 PMID:9384602 PMID:9450781 PMID:9536098 PMID:9813158 PMID:10631141 PMID:10732806 PMID:10846187 PMID:11193137 PMID:11723295 PMID:12549925 PMID:12925374 PMID:14623725 PMID:14769392 PMID:15055444 PMID:15130954 PMID:15258222 PMID:15663477 PMID:15776278 PMID:16155344 PMID:16199547 PMID:16474849 PMID:16533963 PMID:16959576 PMID:17186461 PMID:17345043 PMID:17576681 PMID:17914065 PMID:18350357 PMID:18667258 PMID:18727676 PMID:18833506 PMID:18834536 PMID:19073399 PMID:19659892 PMID:19768372 PMID:20194882 PMID:20301414 PMID:20333730 PMID:20375137 PMID:20420489 PMID:20457965 PMID:20458010 PMID:20634584 PMID:21234330 PMID:21409510 PMID:21483645 PMID:21544564 PMID:21559247 PMID:21959359 PMID:22115042 PMID:22118943 PMID:22221884 PMID:22249458 PMID:22312439 PMID:22412221 PMID:22475797 PMID:22503161 PMID:22505025 PMID:22753229 PMID:22805202 PMID:22834455 PMID:23365231 PMID:23383383 PMID:23558482 PMID:23861362 PMID:23990795 PMID:24093083 PMID:24559647 PMID:24594196 PMID:24669286 PMID:24704512 PMID:24754482 PMID:24844686 PMID:24880964 PMID:24885952 PMID:24928124 PMID:25104557 PMID:25323700 PMID:25604855 PMID:25741868 PMID:25937274 PMID:26159191 PMID:26166204 PMID:26220970 PMID:26242991 PMID:26410308 PMID:26467025 PMID:26507310 PMID:26522186 PMID:26836416 PMID:26899768 PMID:27128372 PMID:27293189 PMID:27883225 PMID:28008242 PMID:28166811 PMID:28191889 PMID:28243073 PMID:28350801 PMID:28492532 PMID:28985224 PMID:29692703 PMID:30021643 PMID:30045758 PMID:30279455 PMID:30412492 PMID:30598257 PMID:30636737 PMID:30822634 PMID:30822648 PMID:30954774 PMID:31020001 PMID:31847883 PMID:31914229 PMID:32032730 PMID:32087291 PMID:32317127 PMID:32345996 PMID:32917274 PMID:33061333 PMID:34102969 PMID:35328387 PMID:35418126 PMID:35491795 PMID:36117051 PMID:37051054 More...
NCBI chr 1:226,870,616...226,903,668
Ensembl chr 1:226,870,184...226,927,726
G
SORCS1
sortilin related VPS10 domain containing receptor 1
IAGP
ClinVar Annotator: match by term: Alzheimer disease 6
ClinVar
PMID:19241460 PMID:21280075 PMID:25741868
NCBI chr10:106,573,663...107,181,138
Ensembl chr10:106,573,663...107,164,706
G
ABCA7
ATP binding cassette subfamily A member 7
susceptibility
IAGP EXP
ClinVar Annotator: match by term: Alzheimer disease 9 ClinVar Annotator: match by term: ALZHEIMER DISEASE 9, LATE-ONSET CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:25741868 PMID:25807283 PMID:26141617 PMID:27066581 PMID:28097223 PMID:28492532 PMID:28789839 PMID:36133075 More...
NCBI chr19:1,040,107...1,065,572
Ensembl chr19:1,039,997...1,065,572
G
LOC130062871
ATAC-STARR-seq lymphoblastoid silent region 9656
IAGP
ClinVar Annotator: match by term: Alzheimer disease 9
ClinVar
PMID:25741868
NCBI chr19:1,065,087...1,065,136
G
SORL1
sortilin related receptor 1
IAGP
ClinVar Annotator: match by term: Alzheimer disease 9
ClinVar
PMID:28789839
NCBI chr11:121,452,314...121,633,763
Ensembl chr11:121,452,314...121,633,763
G
APP
amyloid beta precursor protein
IAGP
ClinVar Annotator: match by term: Alzheimer disease, early-onset, with cerebral amyloid angiopathy
ClinVar
PMID:16369530 PMID:19047566
NCBI chr21:25,880,550...26,171,128
Ensembl chr21:25,880,535...26,171,128
G
APP-DT
APP divergent transcript
IAGP
ClinVar Annotator: match by term: Alzheimer disease, early-onset, with cerebral amyloid angiopathy
ClinVar
PMID:16369530 PMID:19047566
NCBI chr21:26,170,867...26,217,384
Ensembl chr21:26,170,871...26,217,381
G
ATP5PF
ATP synthase peripheral stalk subunit F6
IAGP
ClinVar Annotator: match by term: Alzheimer disease, early-onset, with cerebral amyloid angiopathy
ClinVar
PMID:16369530 PMID:19047566
NCBI chr21:25,724,500...25,735,653
Ensembl chr21:25,716,503...25,735,673
G
CYYR1
cysteine and tyrosine rich 1
IAGP
ClinVar Annotator: match by term: Alzheimer disease, early-onset, with cerebral amyloid angiopathy
ClinVar
PMID:16369530 PMID:19047566
NCBI chr21:26,466,216...26,573,286
Ensembl chr21:26,466,209...26,573,286
G
CYYR1-AS1
CYYR1 antisense RNA 1
IAGP
ClinVar Annotator: match by term: Alzheimer disease, early-onset, with cerebral amyloid angiopathy
ClinVar
PMID:16369530 PMID:19047566
NCBI chr21:26,393,635...26,569,252
Ensembl chr21:26,278,778...26,569,252
G
GABPA
GA binding protein transcription factor subunit alpha
IAGP
ClinVar Annotator: match by term: Alzheimer disease, early-onset, with cerebral amyloid angiopathy
ClinVar
PMID:16369530 PMID:19047566
NCBI chr21:25,734,972...25,772,460
Ensembl chr21:25,734,570...25,772,460
G
JAM2
junctional adhesion molecule 2
IAGP
ClinVar Annotator: match by term: Alzheimer disease, early-onset, with cerebral amyloid angiopathy
ClinVar
PMID:16369530 PMID:19047566
NCBI chr21:25,639,258...25,717,562
Ensembl chr21:25,639,258...25,717,562
G
LINC00158
long intergenic non-protein coding RNA 158
IAGP
ClinVar Annotator: match by term: Alzheimer disease, early-onset, with cerebral amyloid angiopathy
ClinVar
PMID:16369530 PMID:19047566
NCBI chr21:25,385,820...25,431,701
Ensembl chr21:25,374,242...25,431,701
G
LINC00515
long intergenic non-protein coding RNA 515
IAGP
ClinVar Annotator: match by term: Alzheimer disease, early-onset, with cerebral amyloid angiopathy
ClinVar
PMID:16369530 PMID:19047566
NCBI chr21:25,582,775...25,583,224
Ensembl chr21:25,582,770...25,583,326
G
LOC105372753
uncharacterized LOC105372753
IAGP
ClinVar Annotator: match by term: Alzheimer disease, early-onset, with cerebral amyloid angiopathy
ClinVar
PMID:16369530 PMID:19047566
NCBI chr21:25,446,497...25,518,848
G
LOC126653329
P300/CBP strongly-dependent group 1 enhancer GRCh37_chr21:26829184-26830383
IAGP
ClinVar Annotator: match by term: Alzheimer disease, early-onset, with cerebral amyloid angiopathy
ClinVar
PMID:16369530 PMID:19047566
NCBI chr21:25,456,872...25,458,071
G
LOC126653330
CDK7 strongly-dependent group 2 enhancer GRCh37_chr21:27326978-27328177
IAGP
ClinVar Annotator: match by term: Alzheimer disease, early-onset, with cerebral amyloid angiopathy
ClinVar
PMID:16369530 PMID:19047566
NCBI chr21:25,954,664...25,955,863
G
LOC126653331
BRD4-independent group 4 enhancer GRCh37_chr21:27511930-27513129
IAGP
ClinVar Annotator: match by term: Alzheimer disease, early-onset, with cerebral amyloid angiopathy
ClinVar
PMID:16369530 PMID:19047566
NCBI chr21:26,139,612...26,140,811
G
LOC126653332
MED14-independent group 3 enhancer GRCh37_chr21:27761856-27763055
IAGP
ClinVar Annotator: match by term: Alzheimer disease, early-onset, with cerebral amyloid angiopathy
ClinVar
PMID:16369530 PMID:19047566
NCBI chr21:26,389,537...26,390,736
G
LOC126653333
MED14-independent group 3 enhancer GRCh37_chr21:27813209-27814408
IAGP
ClinVar Annotator: match by term: Alzheimer disease, early-onset, with cerebral amyloid angiopathy
ClinVar
PMID:16369530 PMID:19047566
NCBI chr21:26,440,890...26,442,089
G
LOC130066477
ATAC-STARR-seq lymphoblastoid silent region 13224
IAGP
ClinVar Annotator: match by term: Alzheimer disease, early-onset, with cerebral amyloid angiopathy
ClinVar
PMID:16369530 PMID:19047566
NCBI chr21:25,458,192...25,458,321
G
LOC130066478
ATAC-STARR-seq lymphoblastoid active region 18306
IAGP
ClinVar Annotator: match by term: Alzheimer disease, early-onset, with cerebral amyloid angiopathy
ClinVar
PMID:16369530 PMID:19047566
NCBI chr21:25,495,184...25,495,273
G
LOC130066479
ATAC-STARR-seq lymphoblastoid active region 18307
IAGP
ClinVar Annotator: match by term: Alzheimer disease, early-onset, with cerebral amyloid angiopathy
ClinVar
PMID:16369530 PMID:19047566
NCBI chr21:25,551,591...25,551,650
G
LOC130066480
ATAC-STARR-seq lymphoblastoid active region 18308
IAGP
ClinVar Annotator: match by term: Alzheimer disease, early-onset, with cerebral amyloid angiopathy
ClinVar
PMID:16369530 PMID:19047566
NCBI chr21:25,561,680...25,561,729
G
LOC130066481
ATAC-STARR-seq lymphoblastoid silent region 13225
IAGP
ClinVar Annotator: match by term: Alzheimer disease, early-onset, with cerebral amyloid angiopathy
ClinVar
PMID:16369530 PMID:19047566
NCBI chr21:25,562,110...25,562,199
G
LOC130066482
ATAC-STARR-seq lymphoblastoid silent region 13226
IAGP
ClinVar Annotator: match by term: Alzheimer disease, early-onset, with cerebral amyloid angiopathy
ClinVar
PMID:16369530 PMID:19047566
NCBI chr21:25,562,210...25,562,489
G
LOC130066483
ATAC-STARR-seq lymphoblastoid active region 18309
IAGP
ClinVar Annotator: match by term: Alzheimer disease, early-onset, with cerebral amyloid angiopathy
ClinVar
PMID:16369530 PMID:19047566
NCBI chr21:25,564,872...25,564,951
G
LOC130066484
ATAC-STARR-seq lymphoblastoid silent region 13227
IAGP
ClinVar Annotator: match by term: Alzheimer disease, early-onset, with cerebral amyloid angiopathy
ClinVar
PMID:16369530 PMID:19047566
NCBI chr21:25,565,410...25,565,469
G
LOC130066485
ATAC-STARR-seq lymphoblastoid silent region 13228
IAGP
ClinVar Annotator: match by term: Alzheimer disease, early-onset, with cerebral amyloid angiopathy
ClinVar
PMID:16369530 PMID:19047566
NCBI chr21:25,569,215...25,569,264
G
LOC130066486
ATAC-STARR-seq lymphoblastoid silent region 13229
IAGP
ClinVar Annotator: match by term: Alzheimer disease, early-onset, with cerebral amyloid angiopathy
ClinVar
PMID:16369530 PMID:19047566
NCBI chr21:25,573,924...25,574,103
G
LOC130066487
ATAC-STARR-seq lymphoblastoid active region 18310
IAGP
ClinVar Annotator: match by term: Alzheimer disease, early-onset, with cerebral amyloid angiopathy
ClinVar
PMID:16369530 PMID:19047566
NCBI chr21:25,575,655...25,575,804
G
LOC130066488
ATAC-STARR-seq lymphoblastoid active region 18311
IAGP
ClinVar Annotator: match by term: Alzheimer disease, early-onset, with cerebral amyloid angiopathy
ClinVar
PMID:16369530 PMID:19047566
NCBI chr21:25,576,197...25,576,246
G
LOC130066489
ATAC-STARR-seq lymphoblastoid active region 18312
IAGP
ClinVar Annotator: match by term: Alzheimer disease, early-onset, with cerebral amyloid angiopathy
ClinVar
PMID:16369530 PMID:19047566
NCBI chr21:25,578,707...25,578,776
G
LOC130066490
ATAC-STARR-seq lymphoblastoid active region 18313
IAGP
ClinVar Annotator: match by term: Alzheimer disease, early-onset, with cerebral amyloid angiopathy
ClinVar
PMID:16369530 PMID:19047566
NCBI chr21:25,580,603...25,580,662
G
LOC130066491
ATAC-STARR-seq lymphoblastoid active region 18314
IAGP
ClinVar Annotator: match by term: Alzheimer disease, early-onset, with cerebral amyloid angiopathy
ClinVar
PMID:16369530 PMID:19047566
NCBI chr21:25,607,426...25,607,545
G
LOC130066492
ATAC-STARR-seq lymphoblastoid silent region 13230
IAGP
ClinVar Annotator: match by term: Alzheimer disease, early-onset, with cerebral amyloid angiopathy
ClinVar
PMID:16369530 PMID:19047566
NCBI chr21:25,608,526...25,608,585
G
LOC130066493
ATAC-STARR-seq lymphoblastoid active region 18315
IAGP
ClinVar Annotator: match by term: Alzheimer disease, early-onset, with cerebral amyloid angiopathy
ClinVar
PMID:16369530 PMID:19047566
NCBI chr21:25,638,891...25,639,030
G
LOC130066494
ATAC-STARR-seq lymphoblastoid silent region 13231
IAGP
ClinVar Annotator: match by term: Alzheimer disease, early-onset, with cerebral amyloid angiopathy
ClinVar
PMID:16369530 PMID:19047566
NCBI chr21:25,639,251...25,639,440
G
LOC130066495
ATAC-STARR-seq lymphoblastoid active region 18317
IAGP
ClinVar Annotator: match by term: Alzheimer disease, early-onset, with cerebral amyloid angiopathy
ClinVar
PMID:16369530 PMID:19047566
NCBI chr21:25,734,326...25,734,405
G
LOC130066496
ATAC-STARR-seq lymphoblastoid silent region 13232
IAGP
ClinVar Annotator: match by term: Alzheimer disease, early-onset, with cerebral amyloid angiopathy
ClinVar
PMID:16369530 PMID:19047566
NCBI chr21:25,734,516...25,734,615
G
LOC130066497
ATAC-STARR-seq lymphoblastoid silent region 13233
IAGP
ClinVar Annotator: match by term: Alzheimer disease, early-onset, with cerebral amyloid angiopathy
ClinVar
PMID:16369530 PMID:19047566
NCBI chr21:25,735,556...25,735,695
G
LOC130066498
ATAC-STARR-seq lymphoblastoid silent region 13234
IAGP
ClinVar Annotator: match by term: Alzheimer disease, early-onset, with cerebral amyloid angiopathy
ClinVar
PMID:16369530 PMID:19047566
NCBI chr21:25,735,756...25,735,965
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LOC130066499
ATAC-STARR-seq lymphoblastoid active region 18320
IAGP
ClinVar Annotator: match by term: Alzheimer disease, early-onset, with cerebral amyloid angiopathy
ClinVar
PMID:16369530 PMID:19047566
NCBI chr21:25,967,980...25,968,089
G
LOC130066500
ATAC-STARR-seq lymphoblastoid active region 18321
IAGP
ClinVar Annotator: match by term: Alzheimer disease, early-onset, with cerebral amyloid angiopathy
ClinVar
PMID:16369530 PMID:19047566
NCBI chr21:26,169,273...26,169,482
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LOC130066501
ATAC-STARR-seq lymphoblastoid silent region 13235
IAGP
ClinVar Annotator: match by term: Alzheimer disease, early-onset, with cerebral amyloid angiopathy
ClinVar
PMID:16369530 PMID:19047566
NCBI chr21:26,169,523...26,169,792
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MIR155
microRNA 155
IAGP
ClinVar Annotator: match by term: Alzheimer disease, early-onset, with cerebral amyloid angiopathy
ClinVar
PMID:16369530 PMID:19047566
NCBI chr21:25,573,980...25,574,044
Ensembl chr21:25,573,980...25,574,044
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MIR155HG
MIR155 host gene
IAGP
ClinVar Annotator: match by term: Alzheimer disease, early-onset, with cerebral amyloid angiopathy
ClinVar
PMID:16369530 PMID:19047566
NCBI chr21:25,562,145...25,575,168
Ensembl chr21:25,560,592...25,575,168
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MRPL39
mitochondrial ribosomal protein L39
IAGP
ClinVar Annotator: match by term: Alzheimer disease, early-onset, with cerebral amyloid angiopathy
ClinVar
PMID:16369530 PMID:19047566
NCBI chr21:25,585,656...25,607,859
Ensembl chr21:25,585,656...25,607,517
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PSEN1
presenilin 1
IAGP
ClinVar Annotator: match by term: Alzheimer disease familial 3, with spastic paraparesis
ClinVar
PMID:24121961 PMID:25741868 PMID:27930341 PMID:28492532 PMID:34776449 PMID:35365805 More...
NCBI chr14:73,136,417...73,223,691
Ensembl chr14:73,136,418...73,223,691
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APOE
apolipoprotein E
EXP
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr19:44,905,796...44,909,393
Ensembl chr19:44,905,791...44,909,393
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PSEN1
presenilin 1
EXP IAGP
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Alzheimer disease, familial, 3, with spastic paraparesis and apraxia
CTD ClinVar
PMID:11920851 PMID:15534188 PMID:25741868
NCBI chr14:73,136,417...73,223,691
Ensembl chr14:73,136,418...73,223,691
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PSEN1
presenilin 1
IAGP
ClinVar Annotator: match by term: Alzheimer disease, familial, with spastic paraparesis and unusual plaques ClinVar Annotator: match by term: Alzheimer disease, familial, 3, with unusual plaques ClinVar Annotator: match by term: Alzheimer disease, familial, 3, with spastic paraparesis and unusual plaques
ClinVar
PMID:7550356 PMID:8733749 PMID:8742474 PMID:8755489 PMID:9172170 PMID:9546792 PMID:10720282 PMID:11198283 PMID:11524469 PMID:12111359 PMID:12370477 PMID:12493737 PMID:14557582 PMID:15159497 PMID:15732120 PMID:16033913 PMID:19667325 PMID:20634584 PMID:22461631 PMID:22766738 PMID:24217025 PMID:25471389 PMID:25741868 PMID:27777022 PMID:27930341 PMID:28350801 PMID:28492532 PMID:33440141 More...
NCBI chr14:73,136,417...73,223,691
Ensembl chr14:73,136,418...73,223,691
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TREM2
triggering receptor expressed on myeloid cells 2
IAGP
ClinVar Annotator: match by term: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2
ClinVar OMIM
PMID:6681564 PMID:12080485 PMID:12754369 PMID:12883936 PMID:12925681 PMID:15883308 PMID:19019460 PMID:21834902 PMID:23150934 PMID:23318515 PMID:23399524 PMID:23582655 PMID:24119542 PMID:24139279 PMID:24685331 PMID:24899047 PMID:24990881 PMID:25186855 PMID:25615530 PMID:25741868 PMID:25886450 PMID:27067662 PMID:27084067 PMID:27589997 PMID:27995897 PMID:28376694 PMID:28492532 PMID:28559417 PMID:28620717 PMID:28768830 PMID:29142083 PMID:29557178 PMID:29723869 PMID:30242731 PMID:31217084 PMID:32319261 PMID:32638105 PMID:32894242 More...
NCBI chr 6:41,158,508...41,163,116
Ensembl chr 6:41,158,506...41,163,186
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APOE
apolipoprotein E
IAGP
ClinVar Annotator: match by term: Presenile and senile dementia
ClinVar
PMID:2987927 PMID:3353383 PMID:3922972 PMID:7263700 PMID:8294487 PMID:8346443 PMID:8350998 PMID:8618665 PMID:8644717 PMID:9343467 PMID:9932938 PMID:10213549 PMID:10799751 PMID:11835377 PMID:11940689 PMID:11940706 PMID:14741101 PMID:15048896 PMID:15146461 PMID:15184602 PMID:15326261 PMID:15557508 PMID:15668424 PMID:18338393 PMID:18979180 PMID:18987351 PMID:19605830 PMID:19846850 PMID:21742527 PMID:22381401 PMID:23060451 PMID:23296339 PMID:23571587 PMID:24033266 PMID:25741868 PMID:27260402 PMID:29842932 PMID:32376954 More...
NCBI chr19:44,905,796...44,909,393
Ensembl chr19:44,905,791...44,909,393
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APP
amyloid beta precursor protein
IAGP
ClinVar Annotator: match by term: Presenile and senile dementia
ClinVar
PMID:1303239 PMID:1303275 PMID:1415269 PMID:1679289 PMID:2111584 PMID:8154870 PMID:8499923 PMID:8610157 PMID:9536098 PMID:9754958 PMID:9848098 PMID:10821838 PMID:11004129 PMID:11311152 PMID:11409420 PMID:11441013 PMID:11528419 PMID:12654973 PMID:15365148 PMID:15488330 PMID:15502844 PMID:17576681 PMID:18413473 PMID:19061884 PMID:19363265 PMID:20228223 PMID:20301414 PMID:22312439 PMID:23143229 PMID:23224319 PMID:23919771 PMID:24033266 PMID:24278680 PMID:24524897 PMID:24650794 PMID:24878480 PMID:25104557 PMID:25174650 PMID:25604855 PMID:25741868 PMID:25948718 PMID:26104569 PMID:26242991 PMID:26402770 PMID:26467025 PMID:26803359 PMID:27000221 PMID:27312774 PMID:27858710 PMID:28304299 PMID:28350801 PMID:28492532 PMID:28985224 PMID:29263818 PMID:29455155 PMID:29459625 PMID:29692703 PMID:29859640 PMID:30114415 PMID:30279455 PMID:30868685 PMID:31011484 PMID:31719132 PMID:31836585 PMID:32087291 PMID:32317127 PMID:32775599 PMID:32908482 PMID:32917274 PMID:33268848 PMID:33445953 PMID:33601107 PMID:35861376 PMID:36133075 PMID:38137339 More...
NCBI chr21:25,880,550...26,171,128
Ensembl chr21:25,880,535...26,171,128
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APP-DT
APP divergent transcript
IAGP
ClinVar Annotator: match by term: Presenile and senile dementia
ClinVar
PMID:28492532
NCBI chr21:26,170,867...26,217,384
Ensembl chr21:26,170,871...26,217,381
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HFE
homeostatic iron regulator
IAGP
ClinVar Annotator: match by term: Presenile and senile dementia
ClinVar
PMID:10194428 PMID:10660483 PMID:11336458 PMID:12377814 PMID:19159930 PMID:19681031 PMID:20107990 PMID:20301613 PMID:21452290 PMID:25741868 PMID:26153218 PMID:27173269 PMID:28492532 PMID:29404719 More...
NCBI chr 6:26,087,429...26,098,343
Ensembl chr 6:26,087,226...26,098,343
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HFE-AS1
HFE antisense RNA 1
IAGP
ClinVar Annotator: match by term: Presenile and senile dementia
ClinVar
PMID:10194428 PMID:10660483 PMID:11336458 PMID:12377814 PMID:19159930 PMID:19681031 PMID:20107990 PMID:20301613 PMID:21452290 PMID:25741868 PMID:26153218 PMID:27173269 PMID:28492532 PMID:29404719 More...
NCBI chr 6:26,086,290...26,091,034
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IL1B
interleukin 1 beta
ISO
RGD
PMID:23126199
RGD:7193138
NCBI chr 2:112,829,751...112,836,779
Ensembl chr 2:112,829,751...112,836,816
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LOC126653330
CDK7 strongly-dependent group 2 enhancer GRCh37_chr21:27326978-27328177
IAGP
ClinVar Annotator: match by term: Presenile and senile dementia
ClinVar
PMID:9536098 PMID:17576681 PMID:28492532
NCBI chr21:25,954,664...25,955,863
G
PSEN2
presenilin 2
IAGP
ClinVar Annotator: match by term: Presenile and senile dementia
ClinVar
PMID:14623725 PMID:15663477 PMID:17186461 PMID:17345043 PMID:22503161 PMID:23383383 PMID:23558482 PMID:23861362 PMID:24880964 PMID:25104557 PMID:25604855 PMID:25937274 PMID:26242991 PMID:26467025 PMID:26507310 PMID:26899768 PMID:28492532 PMID:30045758 PMID:32032730 PMID:32917274 More...
NCBI chr 1:226,870,616...226,903,668
Ensembl chr 1:226,870,184...226,927,726
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