Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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



show annotations for term's descendants           Sort by:
Alzheimer's disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G A2M alpha-2-macroglobulin no_association
onset
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 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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 More... NCBI chr19:1,040,107...1,065,572
Ensembl chr19:1,039,997...1,065,572
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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 More... RGD:2325232, RGD:1331525 NCBI chr17:63,477,061...63,498,373
Ensembl chr17:63,477,061...63,498,380
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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 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
JBrowse link
G 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 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G ATP7A ATPase copper transporting alpha ISO mRNA:decreased expression:pituitary gland, vascular plexus (rat) RGD PMID:20027333 RGD:8657017 NCBI chr  X:77,910,693...78,050,395
Ensembl chr  X:77,910,690...78,050,395
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G CASP3 caspase 3 treatment IEP
ISO
EXP
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:18077176 PMID:10319819 PMID:29642617 PMID:12633148 PMID:29587274 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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 More... RGD:8903235 NCBI chr 8:27,596,917...27,614,700
Ensembl chr 8:27,596,917...27,614,700
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
G 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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
G 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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
G 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
JBrowse link
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
JBrowse link
G 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
JBrowse link
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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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 More... NCBI chr21:25,734,972...25,772,460
Ensembl chr21:25,734,570...25,772,460
JBrowse link
G 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 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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 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
JBrowse link
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
JBrowse link
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 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
JBrowse link
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
JBrowse link
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 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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
G HBA2 hemoglobin subunit alpha 2 ISO RGD PMID:21428213 RGD:10450508 NCBI chr16:172,876...173,710
Ensembl chr16:172,876...173,710
JBrowse link
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
JBrowse link
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 More... RGD:1358657 NCBI chr 6:26,087,429...26,098,343
Ensembl chr 6:26,087,226...26,098,343
JBrowse link
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 More... NCBI chr 6:26,086,290...26,091,034 JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
G HSPB1 heat shock protein family B (small) member 1 ISO mRNA,protein:increased expression:brainstem, astrocyte: RGD PMID:25772164 RGD:10402580 NCBI chr 7:76,302,673...76,304,292
Ensembl chr 7:76,302,673...76,305,813
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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 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
JBrowse link
G 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 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
JBrowse link
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 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
JBrowse link
G 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
JBrowse link
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
JBrowse link
G 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
JBrowse link
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
JBrowse link
G IKBKB inhibitor of nuclear factor kappa B kinase subunit beta treatment ISO protein:increased expression:hippocampus: RGD PMID:24380241 RGD:10045941 NCBI chr 8:42,271,302...42,332,460
Ensembl chr 8:42,271,302...42,332,460
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G KCNC1 potassium voltage-gated channel subfamily C member 1 ISO mRNA, protein:decreased expression:neocortex (mouse) RGD PMID:21912965 RGD:9686062 NCBI chr11:17,734,781...17,783,057
Ensembl chr11:17,734,774...17,856,804
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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 More... NCBI chr12:8,950,044...9,215,570
Ensembl chr12:8,950,044...9,010,760
JBrowse link
G 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
JBrowse link
G 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 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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 JBrowse link
G 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 More... NCBI chr21:25,954,664...25,955,863 JBrowse link
G 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 JBrowse link
G 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 JBrowse link
G 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
JBrowse link
G 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 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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 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
JBrowse link
G NOG noggin ISO RGD PMID:19463786 RGD:10414082 NCBI chr17:56,593,699...56,595,611
Ensembl chr17:56,593,699...56,595,611
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G NRGN neurogranin IEP RGD PMID:9329454 RGD:9835394 NCBI chr11:124,739,942...124,747,210
Ensembl chr11:124,739,942...124,747,210
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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 More... NCBI chr20:4,686,456...4,701,588
Ensembl chr20:4,686,350...4,701,590
JBrowse link
G 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 More... RGD:1302519, RGD:13782044 NCBI chr14:73,136,417...73,223,691
Ensembl chr14:73,136,418...73,223,691
JBrowse link
G 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 More... RGD:9743900, RGD:1302522 NCBI chr 1:226,870,616...226,903,668
Ensembl chr 1:226,870,184...226,927,726
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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 JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G SOD1 superoxide dismutase 1 ISO
IEP
mRNA:altered expression:hippocampus, hypothalamus (rat)
protein:decreased expression:frontal lobe (human)
RGD PMID:22072713 PMID:20027333 PMID:22072713 RGD:8655610, RGD:8657017, RGD:8655610 NCBI chr21:31,659,693...31,668,931
Ensembl chr21:31,659,666...31,668,931
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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 More... NCBI chr 3:133,661,998...133,796,641
Ensembl chr 3:133,746,040...133,796,641
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G TTR transthyretin IDA RGD PMID:16552785 RGD:1580525 NCBI chr18:31,591,877...31,598,821
Ensembl chr18:31,557,009...31,598,833
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
Alzheimer's disease 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APP amyloid beta precursor protein 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 More... NCBI chr21:25,880,550...26,171,128
Ensembl chr21:25,880,535...26,171,128
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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 More... NCBI chr 6:26,087,429...26,098,343
Ensembl chr 6:26,087,226...26,098,343
JBrowse link
G 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 More... NCBI chr 6:26,086,290...26,091,034 JBrowse link
G 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 More... NCBI chr17:58,272,255...58,277,462 JBrowse link
G 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 JBrowse link
G 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 JBrowse link
G LPO lactoperoxidase IAGP ClinVar Annotator: match by term: Alzheimer disease type 1 ClinVar PMID:6260268 PMID:9766845 PMID:15108282 PMID:24033266 PMID:25741868 More... NCBI chr17:58,238,584...58,268,518
Ensembl chr17:58,218,548...58,268,518
JBrowse link
G MPO myeloperoxidase IAGP ClinVar Annotator: match by term: Alzheimer disease type 1 ClinVar
OMIM
PMID:6260268 PMID:7904599 PMID:8142659 PMID:8621627 PMID:9468285 More... NCBI chr17:58,269,855...58,280,935
Ensembl chr17:58,269,855...58,280,935
JBrowse link
G 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
JBrowse link
G PLAU plasminogen activator, urokinase IAGP OMIM NCBI chr10:73,909,164...73,917,494
Ensembl chr10:73,909,177...73,917,496
JBrowse link
Alzheimer's disease 17 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TREM2 triggering receptor expressed on myeloid cells 2 IAGP OMIM NCBI chr 6:41,158,508...41,163,116
Ensembl chr 6:41,158,506...41,163,186
JBrowse link
Alzheimer's disease 18 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAM10 ADAM metallopeptidase domain 10 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
JBrowse link
Alzheimer's disease 19 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PLD3 phospholipase D family member 3 IAGP ClinVar Annotator: match by term: Alzheimer disease 19 ClinVar PMID:24336208 PMID:25832408 PMID:25832410 PMID:25832411 PMID:25832412 More... NCBI chr19:40,348,695...40,378,485
Ensembl chr19:40,348,456...40,389,472
JBrowse link
Alzheimer's disease 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APOE apolipoprotein E 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 More... NCBI chr19:44,905,796...44,909,393
Ensembl chr19:44,905,791...44,909,393
JBrowse link
Alzheimer's disease 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APOE apolipoprotein E 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 More... NCBI chr19:44,905,796...44,909,393
Ensembl chr19:44,905,791...44,909,393
JBrowse link
G 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
JBrowse link
G 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 More... NCBI chr12:40,224,997...40,369,285
Ensembl chr12:40,196,744...40,369,285
JBrowse link
G 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 More... NCBI chr14:73,136,417...73,223,691
Ensembl chr14:73,136,418...73,223,691
JBrowse link
Alzheimer's disease 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APOE apolipoprotein E 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 More... NCBI chr19:44,905,796...44,909,393
Ensembl chr19:44,905,791...44,909,393
JBrowse link
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 JBrowse link
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 JBrowse link
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 JBrowse link
G PSEN1 presenilin 1 IAGP ClinVar Annotator: match by term: Alzheimer disease 4 ClinVar PMID:8910898 PMID:9189043 PMID:9437013 PMID:9804121 PMID:10468510 More... NCBI chr14:73,136,417...73,223,691
Ensembl chr14:73,136,418...73,223,691
JBrowse link
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 More... NCBI chr 1:226,870,616...226,903,668
Ensembl chr 1:226,870,184...226,927,726
JBrowse link
Alzheimer's disease 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SORCS1 sortilin related VPS10 domain containing receptor 1 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
JBrowse link
Alzheimer's disease 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA7 ATP binding cassette subfamily A member 7 susceptibility 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 More... NCBI chr19:1,040,107...1,065,572
Ensembl chr19:1,039,997...1,065,572
JBrowse link
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 JBrowse link
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
JBrowse link
Alzheimer's Disease, Early-Onset, with Cerebral Amyloid Angiopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APP amyloid beta precursor protein 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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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 JBrowse link
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 JBrowse link
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 JBrowse link
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 JBrowse link
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 JBrowse link
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 JBrowse link
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 JBrowse link
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 JBrowse link
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 JBrowse link
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 JBrowse link
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 JBrowse link
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 JBrowse link
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 JBrowse link
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 JBrowse link
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 JBrowse link
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 JBrowse link
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 JBrowse link
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 JBrowse link
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 JBrowse link
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 JBrowse link
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 JBrowse link
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 JBrowse link
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 JBrowse link
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 JBrowse link
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 JBrowse link
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 JBrowse link
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 JBrowse link
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 JBrowse link
G 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 JBrowse link
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 JBrowse link
G 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 JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
Alzheimer's Disease, Familial, 3, with Spastic Paraparesis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PSEN1 presenilin 1 IAGP ClinVar Annotator: match by term: Alzheimer disease familial 3, with spastic paraparesis ClinVar PMID:24121961 PMID:25741868 PMID:27930341 PMID:28492532 PMID:34776449 More... NCBI chr14:73,136,417...73,223,691
Ensembl chr14:73,136,418...73,223,691
JBrowse link
Alzheimer's Disease, Familial, 3, with Spastic Paraparesis and Apraxia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APOE apolipoprotein E EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr19:44,905,796...44,909,393
Ensembl chr19:44,905,791...44,909,393
JBrowse link
G 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
JBrowse link
Alzheimer's Disease, Familial, 3, with Spastic Paraparesis and Unusual Plaques term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PSEN1 presenilin 1 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 More... NCBI chr14:73,136,417...73,223,691
Ensembl chr14:73,136,418...73,223,691
JBrowse link
Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TREM2 triggering receptor expressed on myeloid cells 2 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 More... NCBI chr 6:41,158,508...41,163,116
Ensembl chr 6:41,158,506...41,163,186
JBrowse link
Presenile and Senile Dementia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APOE apolipoprotein E IAGP ClinVar Annotator: match by term: Presenile and senile dementia ClinVar PMID:2987927 PMID:3353383 PMID:3922972 PMID:7263700 PMID:8294487 More... NCBI chr19:44,905,796...44,909,393
Ensembl chr19:44,905,791...44,909,393
JBrowse link
G 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 More... NCBI chr21:25,880,550...26,171,128
Ensembl chr21:25,880,535...26,171,128
JBrowse link
G 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
JBrowse link
G 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 More... NCBI chr 6:26,087,429...26,098,343
Ensembl chr 6:26,087,226...26,098,343
JBrowse link
G 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 More... NCBI chr 6:26,086,290...26,091,034 JBrowse link
G 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
JBrowse link
G 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 JBrowse link
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 More... NCBI chr 1:226,870,616...226,903,668
Ensembl chr 1:226,870,184...226,927,726
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 97458
    Diseases of the Aged 2970
      dementia 1279
        Alzheimer's disease 755
          Alzheimer's Disease, Early-Onset, with Cerebral Amyloid Angiopathy 43
          Alzheimer's Disease, Familial Early-Onset, with Coexisting Amyloid and Prion Pathology 0
          Alzheimer's disease 1 12
          Alzheimer's disease 10 0
          Alzheimer's disease 11 0
          Alzheimer's disease 12 0
          Alzheimer's disease 13 0
          Alzheimer's disease 14 0
          Alzheimer's disease 15 0
          Alzheimer's disease 16 0
          Alzheimer's disease 17 1
          Alzheimer's disease 18 1
          Alzheimer's disease 19 1
          Alzheimer's disease 2 1
          Alzheimer's disease 3 + 4
          Alzheimer's disease 4 6
          Alzheimer's disease 5 0
          Alzheimer's disease 6 1
          Alzheimer's disease 7 0
          Alzheimer's disease 8 0
          Alzheimer's disease 9 3
          Lewy Body Variant of Alzheimer's Disease 0
          Presenile and Senile Dementia + 9
Path 2
Term Annotations click to browse term
  disease 97458
    disease of anatomical entity 91107
      nervous system disease 53117
        central nervous system disease 38460
          brain disease 36163
            disease of mental health 29602
              cognitive disorder 9873
                dementia 1279
                  Alzheimer's disease 755
                    Alzheimer's Disease, Early-Onset, with Cerebral Amyloid Angiopathy 43
                    Alzheimer's Disease, Familial Early-Onset, with Coexisting Amyloid and Prion Pathology 0
                    Alzheimer's disease 1 12
                    Alzheimer's disease 10 0
                    Alzheimer's disease 11 0
                    Alzheimer's disease 12 0
                    Alzheimer's disease 13 0
                    Alzheimer's disease 14 0
                    Alzheimer's disease 15 0
                    Alzheimer's disease 16 0
                    Alzheimer's disease 17 1
                    Alzheimer's disease 18 1
                    Alzheimer's disease 19 1
                    Alzheimer's disease 2 1
                    Alzheimer's disease 3 + 4
                    Alzheimer's disease 4 6
                    Alzheimer's disease 5 0
                    Alzheimer's disease 6 1
                    Alzheimer's disease 7 0
                    Alzheimer's disease 8 0
                    Alzheimer's disease 9 3
                    Lewy Body Variant of Alzheimer's Disease 0
                    Presenile and Senile Dementia + 9
paths to the root