RGD DISEASE ONTOLOGY - ANNOTATIONS |
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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.
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Term: | dementia |
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Accession: | DOID:1307
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browse the term
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Definition: | A cognitive disorder resulting from a loss of brain function affecting memory, thinking, language, judgement and behavior. (DO) |
Synonyms: | exact_synonym: | Amentia; Familial Dementia; Familial Dementias; amentias; dementias; senile paranoid dementia; senile paranoid dementias |
| primary_id: | MESH:D003704 |
| xref: | EFO:0003862; ICD9CM:290.8; MONDO:0001627 |
For additional species annotation, visit the
Alliance of Genome Resources.
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Adipoq |
adiponectin, C1Q and collagen domain containing |
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ISO |
protein:increased expression:plasma |
RGD |
PMID:22213409 |
RGD:5686377 |
NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564
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Apoe |
apolipoprotein E |
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ISO |
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GAD |
PMID:15118671 |
RGD:1331525 |
NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
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App |
amyloid beta precursor protein |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22300406 |
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NCBI chr11:24,019,774...24,236,584
Ensembl chr11:24,019,778...24,236,561
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Bace1 |
beta-secretase 1 |
treatment |
IMP |
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RGD |
PMID:28683457 |
RGD:13782142 |
NCBI chr 8:46,142,060...46,166,268
Ensembl chr 8:46,142,116...46,165,876
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Bax |
BCL2 associated X, apoptosis regulator |
treatment |
IEP |
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RGD |
PMID:21473886 |
RGD:10054040 |
NCBI chr 1:95,940,001...95,945,407
Ensembl chr 1:95,938,808...95,945,368
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Bche |
butyrylcholinesterase |
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ISO |
associated with Parkinson Disease;protein:increased expression:cerebrospinal fluid |
RGD |
PMID:2953866 |
RGD:5688127 |
NCBI chr 2:158,308,674...158,401,148
Ensembl chr 2:158,307,584...158,401,148
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Bcl2 |
BCL2, apoptosis regulator |
treatment |
IEP |
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RGD |
PMID:21473886 |
RGD:10054040 |
NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743 Ensembl chr13:22,684,989...22,853,743
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Capzb |
capping actin protein of muscle Z-line subunit beta |
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IEP |
protein:decreased expression:hippocampus |
RGD |
PMID:20545768 |
RGD:9685031 |
NCBI chr 5:151,435,600...151,535,409
Ensembl chr 5:151,434,871...151,535,409
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Cp |
ceruloplasmin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12572680 |
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NCBI chr 2:102,439,433...102,498,075
Ensembl chr 2:102,439,624...102,498,075
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Dnmt1 |
DNA methyltransferase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21532572 |
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NCBI chr 8:19,440,611...19,486,659
Ensembl chr 8:19,440,611...19,486,659
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Drd2 |
dopamine receptor D2 |
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IEP |
mRNA:decreased expression:striatum (rat) |
RGD |
PMID:19500946 |
RGD:2311554 |
NCBI chr 8:49,708,927...49,772,876
Ensembl chr 8:49,708,927...49,772,875
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E2f1 |
E2F transcription factor 1 |
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ISO |
associated with Down Syndrome;protein:increased expression:frontal cortex; |
RGD |
PMID:11423103 |
RGD:10401091 |
NCBI chr 3:143,064,535...143,075,362
Ensembl chr 3:143,049,478...143,075,361
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Egfr |
epidermal growth factor receptor |
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ISO |
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RGD |
PMID:2354367 |
RGD:10059682 |
NCBI chr14:91,176,979...91,349,722
Ensembl chr14:91,177,067...91,344,382
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Grn |
granulin precursor |
onset |
ISO |
DNA:polymorphism: :rs1990622(human) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:17436289 PMID:18543312 PMID:21220649 |
RGD:5509592 |
NCBI chr10:87,387,672...87,393,777
Ensembl chr10:87,387,638...87,393,775
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Gsr |
glutathione-disulfide reductase |
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ISO |
associated with Uremia |
RGD |
PMID:19242659 |
RGD:10401864 |
NCBI chr16:58,482,209...58,525,256
Ensembl chr16:58,482,505...58,525,661
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Hmgcr |
3-hydroxy-3-methylglutaryl-CoA reductase |
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ISO |
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RGD |
PMID:17640385 |
RGD:5508465 |
NCBI chr 2:27,997,523...28,018,983
Ensembl chr 2:27,997,525...28,019,703
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Igf1r |
insulin-like growth factor 1 receptor |
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ISO |
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RGD |
PMID:16983186 |
RGD:10045873 |
NCBI chr 1:121,549,831...121,838,548
Ensembl chr 1:121,550,743...121,831,777
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Lrp8 |
LDL receptor related protein 8 |
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ISO |
DNA:mutation: :p.R952Q (human) |
RGD |
PMID:17614163 |
RGD:6483063 |
NCBI chr 5:122,563,468...122,635,434
Ensembl chr 5:122,563,453...122,631,352
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Lrpap1 |
LDL receptor related protein associated protein 1 |
susceptibility |
ISO |
DNA:insertion,deletion:intron: |
RGD |
PMID:18721259 |
RGD:10412053 |
NCBI chr14:75,651,371...75,663,380
Ensembl chr14:75,651,376...75,665,414
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Mapt |
microtubule-associated protein tau |
disease_progression |
ISO |
DNA:haplotype: : ClinVar Annotator: match by term: Dementia CTD Direct Evidence: marker/mechanism |
ClinVar CTD RGD |
PMID:7783864 PMID:7936288 PMID:8940276 PMID:9088499 PMID:9392579 PMID:9641683 PMID:10202939 PMID:10329720 PMID:10443890 PMID:10446810 PMID:11255441 PMID:11402146 PMID:11641718 PMID:11708988 PMID:11889249 PMID:11912108 PMID:11971081 PMID:11971082 PMID:12847166 PMID:14755449 PMID:15372253 PMID:15950767 PMID:17923640 PMID:18525295 PMID:19365643 PMID:19766248 PMID:19786698 PMID:19884572 PMID:19914360 PMID:20045477 PMID:22300406 PMID:23680655 PMID:23885714 PMID:25683866 PMID:25741868 PMID:26136155 PMID:26467025 PMID:26528178 PMID:27594586 PMID:28097206 PMID:28492532 PMID:31810826 PMID:20930301 More...
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RGD:10412700 |
NCBI chr10:89,138,644...89,236,137
Ensembl chr10:89,138,627...89,236,129
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Mre11 |
MRE11 homolog, double strand break repair nuclease |
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ISO |
ClinVar Annotator: match by term: Dementia |
ClinVar |
PMID:25741868 PMID:26467025 PMID:26878173 PMID:26898890 PMID:27878467 PMID:28492532 PMID:31159747 PMID:31353207 PMID:33471991 More...
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NCBI chr 8:11,618,876...11,680,451
Ensembl chr 8:11,632,354...11,678,279
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Ngfr |
nerve growth factor receptor |
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IEP |
associated with Autoimmune Diseases;protein:decreased expression:medial septal nucleus |
RGD |
PMID:8232919 |
RGD:10413897 |
NCBI chr10:80,515,287...80,533,518
Ensembl chr10:80,515,299...80,533,518
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Nos2 |
nitric oxide synthase 2 |
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ISO |
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RGD |
PMID:10674474 |
RGD:1358529 |
NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
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Notch4 |
notch receptor 4 |
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ISO |
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RGD |
PMID:21297263 |
RGD:6480775 |
NCBI chr20:4,160,362...4,184,466
Ensembl chr20:4,160,445...4,184,465
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Npy |
neuropeptide Y |
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ISO |
associated with Parkinson Disease;protein:decreased expression:cerebral cortex |
RGD |
PMID:2903567 |
RGD:10433462 |
NCBI chr 4:78,881,294...78,888,495
Ensembl chr 4:78,881,264...78,888,495
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Nrg1 |
neuregulin 1 |
treatment |
ISO |
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RGD |
PMID:21473886 |
RGD:10054040 |
NCBI chr16:59,250,658...60,304,519
Ensembl chr16:59,250,854...60,296,884
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Pcsk1n |
proprotein convertase subtilisin/kexin type 1 inhibitor |
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ISO |
associated with Parkinson Disease |
RGD |
PMID:14746899 |
RGD:1642360 |
NCBI chr X:14,580,036...14,583,478
Ensembl chr X:14,580,038...14,583,566
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Pla2g7 |
phospholipase A2 group VII |
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ISO |
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RGD |
PMID:16278861 |
RGD:6482779 |
NCBI chr 9:17,362,214...17,404,476
Ensembl chr 9:17,362,225...17,404,476
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Pon1 |
paraoxonase 1 |
susceptibility |
ISO |
DNA:snp, missense mutation, haplotype:promoter, cds:g.-107T>C, p.Q129R (human) |
RGD |
PMID:15016430 |
RGD:1358562 |
NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360
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Slc25a24 |
solute carrier family 25 member 24 |
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ISO |
ClinVar Annotator: match by term: Dementia |
ClinVar |
PMID:25741868 |
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NCBI chr 2:196,761,076...196,799,236
Ensembl chr 2:196,761,274...196,799,231
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Slc6a3 |
solute carrier family 6 member 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18579413 |
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NCBI chr 1:29,709,443...29,750,413
Ensembl chr 1:29,709,443...29,750,413
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Slc9a8 |
solute carrier family 9 member A8 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19234771 |
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NCBI chr 3:156,147,855...156,198,497
Ensembl chr 3:156,148,104...156,198,471
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Trem2 |
triggering receptor expressed on myeloid cells 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18546367 |
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NCBI chr 9:12,647,605...12,654,190
Ensembl chr 9:12,647,259...12,654,170
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Vcp |
valosin-containing protein |
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ISO |
IBMPFD, OMIM:167320 |
RGD |
PMID:15034582 |
RGD:1599735 |
NCBI chr 5:57,210,167...57,229,571
Ensembl chr 5:57,210,168...57,229,571
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Vldlr |
very low density lipoprotein receptor |
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ISO |
DNA:repeat |
RGD |
PMID:11342683 |
RGD:737740 |
NCBI chr 1:224,813,539...224,850,400
Ensembl chr 1:224,814,377...224,845,920
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Adrb2 |
adrenoceptor beta 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27400929 |
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NCBI chr18:55,642,459...55,644,501
Ensembl chr18:55,502,903...55,644,512
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Epo |
erythropoietin |
treatment |
ISO |
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RGD |
PMID:20818790 |
RGD:10395393 |
NCBI chr12:19,204,258...19,207,948
Ensembl chr12:19,204,508...19,207,946
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Gc |
GC, vitamin D binding protein |
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ISO |
associated with HIV Infections;protein:increased expression:cerebrospinal fluid: |
RGD |
PMID:17929958 |
RGD:5509882 |
NCBI chr14:18,632,146...18,667,563
Ensembl chr14:18,632,135...18,667,567
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Il1b |
interleukin 1 beta |
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IEP |
protein:increased expression:neocortex |
RGD |
PMID:17678975 |
RGD:1626641 |
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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Insr |
insulin receptor |
severity |
ISO |
protein:increased expression:cerebrospinal fluid, plasma |
RGD |
PMID:22629383 |
RGD:10403033 |
NCBI chr12:1,193,193...1,330,976
Ensembl chr12:1,197,100...1,330,883
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Irs1 |
insulin receptor substrate 1 |
severity |
ISO |
protein:decreased tyrosine phosphorylation:cerebrospinal fluid, leukocyte |
RGD |
PMID:22629383 |
RGD:10403033 |
NCBI chr 9:83,552,964...83,605,797
Ensembl chr 9:83,548,944...83,606,122
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Nefl |
neurofilament light chain |
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ISO |
associated with HIV Seropositivity;protein:increased expression:plasma, CSF (human) protein:increased expression:CSF (human) |
RGD |
PMID:30105502 PMID:27400930 |
RGD:127284876, RGD:127284885 |
NCBI chr15:42,301,920...42,305,793
Ensembl chr15:42,301,916...42,305,793
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Npy |
neuropeptide Y |
severity |
ISO |
protein:increased expression:cerebrospinal fluid |
RGD |
PMID:8815163 |
RGD:10431910 |
NCBI chr 4:78,881,294...78,888,495
Ensembl chr 4:78,881,264...78,888,495
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Oprm1 |
opioid receptor, mu 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27400929 |
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NCBI chr 1:43,160,057...43,413,409
Ensembl chr 1:43,160,057...43,413,409
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Pdgfb |
platelet derived growth factor subunit B |
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ISO |
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RGD |
PMID:21368226 |
RGD:6482787 |
NCBI chr 7:111,539,444...111,557,984
Ensembl chr 7:111,540,345...111,557,984
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Slc6a4 |
solute carrier family 6 member 4 |
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ISO |
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RGD |
PMID:25404050 |
RGD:38676266 |
NCBI chr10:61,824,208...61,858,924
Ensembl chr10:61,826,123...61,858,384
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A2m |
alpha-2-macroglobulin |
no_association onset |
ISO |
DNA:deletion:splice junction: DNA:insertion/deletion, substitution DNA:polymorphism: :p.I1000V (human) DNA:deletion, polymorphisms, haplotypes: :multiple DNA:polymorphisms: :multiple CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: ALPHA-2-MACROGLOBULIN POLYMORPHISM |
CTD ClinVar RGD |
PMID:1370808 PMID:1717945 PMID:9697696 PMID:9811940 PMID:15023809 PMID:24033266 PMID:10319853 PMID:9697696 PMID:14675603 PMID:12133586 PMID:10936700 PMID:12966032 PMID:12966032 More...
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RGD:1300322, RGD:1302534, RGD:10046012, RGD:10046014, RGD:10046015, RGD:10046016, RGD:10046016 |
NCBI chr 4:154,897,770...154,947,787
Ensembl chr 4:154,897,877...154,947,786
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Abat |
4-aminobutyrate aminotransferase |
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ISO |
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RGD |
PMID:1627256 |
RGD:10046060 |
NCBI chr10:6,996,688...7,092,835
Ensembl chr10:6,999,819...7,092,835
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Abca1 |
ATP binding cassette subfamily A member 1 |
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ISO |
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RGD |
PMID:15024730 |
RGD:1300323 |
NCBI chr 5:67,678,267...67,801,162
Ensembl chr 5:67,681,297...67,801,170
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Abca7 |
ATP binding cassette subfamily A member 7 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Alzheimer disease, early onset |
CTD ClinVar |
PMID:21460840 PMID:25741868 PMID:25807283 PMID:26141617 PMID:27066581 PMID:28492532 More...
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NCBI chr 7:9,691,452...9,711,466
Ensembl chr 7:9,691,449...9,711,425
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Abcb1a |
ATP binding cassette subfamily B member 1A |
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ISO |
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RGD |
PMID:25991605 |
RGD:13801010 |
NCBI chr 4:25,357,467...25,529,941
Ensembl chr 4:25,158,362...25,442,709
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Abcc1 |
ATP binding cassette subfamily C member 1 |
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ISO |
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RGD |
PMID:25991605 |
RGD:13801010 |
NCBI chr10:528,961...655,179
Ensembl chr10:531,812...655,114
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Abi3 |
ABI family, member 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28714976 |
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NCBI chr10:80,769,819...80,780,816
Ensembl chr10:80,769,822...80,780,816
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Abl1 |
ABL proto-oncogene 1, non-receptor tyrosine kinase |
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ISO |
protein:increased expression:brain: |
RGD |
PMID:19700222 |
RGD:8693570 |
NCBI chr 3:14,979,853...15,083,065
Ensembl chr 3:14,979,853...15,083,065
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Acadvl |
acyl-CoA dehydrogenase, very long chain |
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ISO |
protein:decreased expression:brain |
RGD |
PMID:25260493 |
RGD:10047114 |
NCBI chr10:54,732,875...54,738,102
Ensembl chr10:54,732,469...54,738,075
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Ace |
angiotensin I converting enzyme |
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IMP ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:9916793 PMID:10643899 PMID:14872014 PMID:17192785 PMID:30820047 PMID:19080340 PMID:15118671 More...
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RGD:2325232, RGD:1331525 |
NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
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Ache |
acetylcholinesterase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:22944069 PMID:23047022 PMID:16581404 |
RGD:5509844 |
NCBI chr12:19,406,133...19,413,713
Ensembl chr12:19,407,360...19,413,651
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Adam10 |
ADAM metallopeptidase domain 10 |
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IEP ISO |
protein:decreased expression:cerebral cortex, hippocampus CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:30820047 PMID:23296102 PMID:24792732 |
RGD:13703032, RGD:13703037 |
NCBI chr 8:71,346,008...71,477,889
Ensembl chr 8:71,345,837...71,477,889
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Adam17 |
ADAM metallopeptidase domain 17 |
onset |
IEP ISO |
protein:decreased expression:cerebral cortex, hippocampus DNA:missense mutation: :p.R215I (rs142946965) (human) |
RGD |
PMID:24792732 PMID:29988083 |
RGD:13703037, RGD:13782143 |
NCBI chr 6:40,872,936...40,920,700
Ensembl chr 6:40,872,856...40,920,639
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Adam2 |
ADAM metallopeptidase domain 2 |
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ISO |
protein:increased expression:brain |
RGD |
PMID:10686596 |
RGD:10047127 |
NCBI chr15:40,242,651...40,284,025
Ensembl chr15:40,242,783...40,283,952
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Adam9 |
ADAM metallopeptidase domain 9 |
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IEP |
protein:decreased expression:hippocampus |
RGD |
PMID:24792732 |
RGD:13703037 |
NCBI chr16:67,022,538...67,101,647
Ensembl chr16:67,022,655...67,100,917
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Adamts1 |
ADAM metallopeptidase with thrombospondin type 1 motif, 1 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Alzheimer disease |
CTD ClinVar |
PMID:16369530 PMID:16921174 PMID:24691562 PMID:25741868 PMID:30820047 |
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NCBI chr11:24,932,227...24,941,068
Ensembl chr11:24,931,761...24,941,103
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Adamts5 |
ADAM metallopeptidase with thrombospondin type 1 motif, 5 |
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ISO |
ClinVar Annotator: match by term: Alzheimer disease |
ClinVar |
PMID:16369530 PMID:16921174 PMID:24691562 PMID:25741868 |
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NCBI chr11:25,000,627...25,047,205
Ensembl chr11:25,000,637...25,047,205
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Adipoq |
adiponectin, C1Q and collagen domain containing |
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ISO |
protein:increased expression:plasma protein:increased expression:cerebrospinal fluid, plasma |
RGD |
PMID:22213409 PMID:20727007 |
RGD:5686377, RGD:5686881 |
NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564
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Adnp |
activity-dependent neuroprotector homeobox |
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ISO |
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RGD |
PMID:18199809 PMID:17720885 |
RGD:2312791, RGD:2312792 |
NCBI chr 3:156,886,921...156,921,500
Ensembl chr 3:156,891,381...156,917,312
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Adra1a |
adrenoceptor alpha 1A |
susceptibility |
ISO |
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RGD |
PMID:114750 |
RGD:5688374 |
NCBI chr15:40,830,125...40,935,902
Ensembl chr15:40,832,534...40,927,500
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Adrb3 |
adrenoceptor beta 3 |
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ISO |
DNA:missense mutation:cds:p.W64R (human) |
RGD |
PMID:17440948 |
RGD:2311642 |
NCBI chr16:64,839,820...64,844,552
Ensembl chr16:64,841,788...64,844,552
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G |
Ager |
advanced glycosylation end product-specific receptor |
treatment |
ISO IDA IEP |
protein:increased expression:brain (human) mRNA:increased expression:hippocampus, cerebral cortex (mouse) protein:increased expression:hippocampus (rat) |
RGD |
PMID:8751438 PMID:22415896 PMID:21593432 PMID:23164356 PMID:23396166 PMID:23396166 PMID:22745485 More...
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RGD:1300365, RGD:7245561, RGD:7245965, RGD:7244287, RGD:7244266, RGD:7244266, RGD:6784502 |
NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078
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G |
Agt |
angiotensinogen |
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ISO |
protein:increased expression:cerebrospinal fluid |
RGD |
PMID:21297254 |
RGD:5129180 |
NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977
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G |
Agtr1a |
angiotensin II receptor, type 1a |
treatment |
ISO |
protein:decreased expression:substantia nigra: |
RGD |
PMID:21929736 PMID:8666063 |
RGD:10047395, RGD:10047397 |
NCBI chr17:34,173,446...34,226,892
Ensembl chr17:34,174,429...34,226,946
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G |
Aif1 |
allograft inflammatory factor 1 |
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ISO |
mRNA:increased expression:frontal cortex (human) protein:altered expression:hippocampus (mouse) |
RGD |
PMID:16340083 PMID:19084047 |
RGD:2313045, RGD:2313023 |
NCBI chr20:3,646,784...3,652,670
Ensembl chr20:3,646,777...3,652,668
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G |
Aifm1 |
apoptosis inducing factor, mitochondria associated 1 |
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ISO |
protein:increased expression:cortex,nucleus: protein:increased expression:basal forebrain,amygdala: |
RGD |
PMID:24915960 PMID:22536549 |
RGD:10053592, RGD:10053593 |
NCBI chr X:127,650,223...127,689,356
Ensembl chr X:127,650,226...127,689,256
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G |
Akap5 |
A-kinase anchoring protein 5 |
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ISO |
protein:increased expression:cell soma, dendritic arbor (human) |
RGD |
PMID:10460255 |
RGD:2313287 |
NCBI chr 6:95,051,527...95,061,075
Ensembl chr 6:95,051,537...95,061,578
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G |
Akr7a2 |
aldo-keto reductase family 7, member A2 |
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ISO |
protein:increased expression:superior, middle temporal gyrus; |
RGD |
PMID:11597610 |
RGD:14349051 |
NCBI chr 5:151,552,375...151,560,914
Ensembl chr 5:151,552,343...151,560,909
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G |
Akt1 |
AKT serine/threonine kinase 1 |
|
ISO |
protein:increased tyrosine phosphorylation:cerebral cortex |
RGD |
PMID:18023354 |
RGD:5509085 |
NCBI chr 6:131,713,716...131,735,319
Ensembl chr 6:131,713,720...131,733,921
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G |
Aldh2 |
aldehyde dehydrogenase 2 family member |
onset |
ISO |
|
RGD |
PMID:15126281 |
RGD:1599042 |
NCBI chr12:34,949,549...34,982,527
Ensembl chr12:34,901,219...34,982,521
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G |
Alox15 |
arachidonate 15-lipoxygenase |
|
ISO |
protein:increased expression:brain |
RGD |
PMID:20570249 PMID:15111312 |
RGD:5509595, RGD:5509620 |
NCBI chr10:55,060,169...55,068,885
Ensembl chr10:55,060,412...55,068,874
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G |
Ambra1 |
autophagy and beclin 1 regulator 1 |
|
ISO |
|
RGD |
PMID:23910655 |
RGD:14390071 |
NCBI chr 3:77,700,936...77,890,221
Ensembl chr 3:77,700,936...77,890,221
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G |
Amfr |
autocrine motility factor receptor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22313999 |
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NCBI chr19:10,996,705...11,032,260
Ensembl chr19:10,996,099...11,032,247
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G |
Ang |
angiogenin |
severity |
ISO |
protein:decreased expression:serum |
RGD |
PMID:22449478 |
RGD:6892705 |
NCBI chr15:24,312,711...24,323,361
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G |
Anxa5 |
annexin A5 |
|
ISO |
protein:increased expression:brain, plasma protein:increased expression: plasma |
RGD |
PMID:20648654 PMID:20648654 |
RGD:7242030, RGD:7242030 |
NCBI chr 2:119,314,007...119,344,703
Ensembl chr 2:119,314,007...119,353,369
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G |
Aoc3 |
amine oxidase, copper containing 3 |
severity |
ISO |
protein:increased expression:plasma |
RGD |
PMID:17393059 |
RGD:2313919 |
NCBI chr10:86,272,757...86,280,702
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G |
Apbb1 |
amyloid beta precursor protein binding family B member 1 |
susceptibility no_association |
ISO |
DNA:mutations::multiple mRNA:altered expression:brain: DNA:deletion:intron: DNA:polymorphism:intron: |
RGD |
PMID:9799084 PMID:10723070 PMID:12727304 PMID:11099823 |
RGD:2301212, RGD:10054036, RGD:10054031, RGD:10054028 |
NCBI chr 1:159,896,889...159,920,505
Ensembl chr 1:159,896,880...159,920,627
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G |
Apbb2 |
amyloid beta precursor protein binding family B member 2 |
onset |
ISO |
DNA:SNPs: :rs13133980,rs17443013(human) |
RGD |
PMID:15714520 |
RGD:9684954 |
NCBI chr14:41,557,918...41,878,622
Ensembl chr14:41,557,972...41,877,495
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G |
Apc |
APC regulator of WNT signaling pathway |
|
ISO |
protein:increased expression:astrocyte |
RGD |
PMID:11547943 |
RGD:6484525 |
NCBI chr18:25,828,558...25,925,511
Ensembl chr18:25,864,222...25,922,696
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G |
Aph1a |
aph-1 homolog A, gamma secretase subunit |
treatment |
ISO |
|
RGD |
PMID:28588301 PMID:29926633 |
RGD:13703122, RGD:13703123 |
NCBI chr 2:183,437,676...183,443,113
Ensembl chr 2:183,438,434...183,441,955
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G |
Aph1b |
aph-1 homolog B, gamma secretase subunit |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:33589840 |
|
NCBI chr 8:67,429,198...67,454,735
Ensembl chr 8:67,429,198...67,450,243
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G |
Aplp2 |
amyloid beta precursor like protein 2 |
|
IDA |
|
RGD |
PMID:8086458 |
RGD:734582 |
NCBI chr 8:29,599,230...29,662,311
Ensembl chr 8:29,599,230...29,661,855
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G |
Apoa1 |
apolipoprotein A1 |
resistance |
ISO |
DNA: : :transgenic model |
RGD |
PMID:20847045 PMID:19863188 |
RGD:5508212, RGD:5508218 |
NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035
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G |
Apoa4 |
apolipoprotein A4 |
no_association |
ISO |
DNA:missense mutation:cds:p.Q360H (human) DNA:snp, haplotype:cds:p.S147N (rs5104) (human) |
RGD |
PMID:21356380 PMID:10559562 PMID:9272683 PMID:16013913 |
RGD:5685638, RGD:5685682, RGD:5685681, RGD:5685661 |
NCBI chr 8:46,539,083...46,541,464
Ensembl chr 8:46,539,082...46,541,469
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G |
Apoc1 |
apolipoprotein C1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:29107063 PMID:30319691 PMID:11825674 |
RGD:1578472 |
NCBI chr 1:79,347,057...79,350,340
Ensembl chr 1:79,346,136...79,350,375
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G |
Apod |
apolipoprotein D |
|
ISO |
protein:increased expression:cerebrospinal fluid, hippocampus |
RGD |
PMID:9751198 |
RGD:2311209 |
NCBI chr11:69,431,261...69,452,306
Ensembl chr11:69,431,260...69,452,305
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G |
Apoe |
apolipoprotein E |
susceptibility treatment no_association |
ISO IEP |
ClinVar Annotator: match by term: Alzheimer disease, early onset DNA:SNP: :APOEe4(human) CTD Direct Evidence: marker/mechanism DNA:polymorphism:promoter:-491A>T,-427T>C(human) protein:increased expression:hippocampus, synapse (rat) protein:increased expression:parietal cortex, synapse (human) DNA:missense mutations, haplotype:cds:p.C112R, (rs7412) (human) |
ClinVar CTD RGD |
PMID:2987927 PMID:3353383 PMID:3922972 PMID:7263700 PMID:8294487 PMID:8346443 PMID:8350998 PMID:8618665 PMID:8644717 PMID:9343467 PMID:9932938 PMID:10213549 PMID:10799751 PMID:11835377 PMID:11940689 PMID:11940706 PMID:14741101 PMID:15048896 PMID:15146461 PMID:15184602 PMID:15326261 PMID:15557508 PMID:15668424 PMID:18338393 PMID:18979180 PMID:18987351 PMID:19605830 PMID:19734902 PMID:19846850 PMID:20819998 PMID:21742527 PMID:22381401 PMID:23060451 PMID:23296339 PMID:23571587 PMID:24033266 PMID:24162737 PMID:24473795 PMID:25741868 PMID:27023435 PMID:27260402 PMID:29107063 PMID:29842932 PMID:30319691 PMID:30320580 PMID:32376954 PMID:15118671 PMID:20574532 PMID:20088507 PMID:18057979 PMID:22020632 PMID:22020632 PMID:10027549 More...
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RGD:1331525, RGD:10427727, RGD:12904712, RGD:7771594, RGD:6903910, RGD:6903910, RGD:6903233 |
NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
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G |
App |
amyloid beta precursor protein |
susceptibility treatment |
ISO ISS IDA IEP |
ClinVar Annotator: match by term: Alzheimer disease | ClinVar Annotator: match by term: Alzheimer disease, early onset | ClinVar Annotator: match by term: Alzheimer disease, protection against | ClinVar Annotator: match by term: Alzheimer's disease | ClinVar Annotator: match by term: Early-Onset Familial Alzheimer Disease CTD Direct Evidence: marker/mechanism human transgene in rat model associated with hypertension DNA:mutation:p.D678N (human) protein:increased expression:cerebral spinal fluid fluid,brain: protein:decreased expression:cerebrospinal fluid: |
ClinVar MouseDO CTD RGD |
PMID:1303172 PMID:1303239 PMID:1303275 PMID:1307241 PMID:1415269 PMID:1497677 PMID:1520398 PMID:1634237 PMID:1671712 PMID:1674311 PMID:1678057 PMID:1678058 PMID:1679288 PMID:1679289 PMID:1908231 PMID:1925564 PMID:2111584 PMID:7611715 PMID:7633445 PMID:7686976 PMID:7806491 PMID:7845465 PMID:8154870 PMID:8191290 PMID:8290965 PMID:8291572 PMID:8410047 PMID:8499923 PMID:8513318 PMID:8577393 PMID:8610157 PMID:8649577 PMID:8863158 PMID:8886002 PMID:9328472 PMID:9536098 PMID:9754958 PMID:9848098 PMID:10097173 PMID:10441572 PMID:10611368 PMID:10631141 PMID:10821838 PMID:11004129 PMID:11063718 PMID:11311152 PMID:11409420 PMID:11441013 PMID:11487570 PMID:11528419 PMID:11568920 PMID:11735772 PMID:11910111 PMID:11978821 PMID:12034808 PMID:12192006 PMID:12392798 PMID:12552037 PMID:12572668 PMID:12654973 PMID:12707272 PMID:12746438 PMID:12852432 PMID:14623725 PMID:14769392 PMID:15365148 PMID:15488330 PMID:15502844 PMID:15590663 PMID:15591071 PMID:15776278 PMID:15993441 PMID:16033913 PMID:16199547 PMID:16204253 PMID:16266835 PMID:16325427 PMID:16369530 PMID:16492752 PMID:16651627 PMID:16921174 PMID:16931535 PMID:16969627 PMID:17239395 PMID:17430250 PMID:17576681 PMID:17873282 PMID:18187157 PMID:18234110 PMID:18413473 PMID:18437002 PMID:18583042 PMID:18667258 PMID:19061884 PMID:19281847 PMID:19286555 PMID:19363265 PMID:19818510 PMID:20111991 PMID:20157255 PMID:20228223 PMID:20301414 PMID:20452985 PMID:20523046 PMID:20640797 PMID:21157020 PMID:21209907 PMID:21210284 PMID:21980910 PMID:22312439 PMID:22491860 PMID:22503161 PMID:22507317 PMID:22801501 PMID:23143229 PMID:23224319 PMID:23515184 PMID:23827522 PMID:23919771 PMID:24033266 PMID:24117942 PMID:24278680 PMID:24390130 PMID:24524897 PMID:24650794 PMID:24677022 PMID:24680827 PMID:24691562 PMID:24694184 PMID:24878480 PMID:25104557 PMID:25138979 PMID:25174650 PMID:25352456 PMID:25604855 PMID:25617006 PMID:25714973 PMID:25741868 PMID:25948718 PMID:26104569 PMID:26242991 PMID:26402770 PMID:26467025 PMID:26803359 PMID:27000221 PMID:27117003 PMID:27312774 PMID:27567873 PMID:27838006 PMID:27858710 PMID:28106563 PMID:28304299 PMID:28350801 PMID:28448946 PMID:28492532 PMID:29263818 PMID:29420472 PMID:29459625 PMID:29859640 PMID:30279455 PMID:30320580 PMID:30868685 PMID:31011484 PMID:31557888 PMID:31719132 PMID:31836585 PMID:31914229 PMID:31937505 PMID:32087291 PMID:32345996 PMID:32908482 PMID:32917274 PMID:33268848 PMID:33445953 PMID:35873773 PMID:16369530 PMID:17506994 PMID:30066400 PMID:29174383 PMID:29568075 PMID:29641600 PMID:15201367 PMID:11520987 PMID:11526104 PMID:1677459 More...
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RGD:1599199, RGD:2290385, RGD:13782183, RGD:13782049, RGD:13782047, RGD:13782044, RGD:10054280, RGD:1302530, RGD:10054258, RGD:10054257 |
NCBI chr11:24,019,774...24,236,584
Ensembl chr11:24,019,778...24,236,561
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G |
Aqp4 |
aquaporin 4 |
|
ISO |
|
RGD |
PMID:21107133 |
RGD:5148012 |
NCBI chr18:6,507,903...6,524,558
Ensembl chr18:6,507,903...6,524,856
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G |
Arc |
activity-regulated cytoskeleton-associated protein |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18503570 |
|
NCBI chr 7:106,555,968...106,559,697
Ensembl chr 7:106,555,785...106,559,378
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G |
Ass1 |
argininosuccinate synthase 1 |
|
ISO |
protein:increased expression:brain, glial cell (human) |
RGD |
PMID:11556547 |
RGD:4139898 |
NCBI chr 3:14,747,355...14,796,909
Ensembl chr 3:14,747,368...14,796,903
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G |
Atf2 |
activating transcription factor 2 |
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ISO |
|
RGD |
PMID:9138733 PMID:15878807 |
RGD:10047399, RGD:10047400 |
NCBI chr 3:58,718,323...58,795,280
Ensembl chr 3:58,718,332...58,795,236
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G |
Atm |
ATM serine/threonine kinase |
disease_progression |
ISO |
|
RGD |
PMID:23861893 |
RGD:10047419 |
NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437
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G |
Atp5f1a |
ATP synthase F1 subunit alpha |
treatment onset |
ISO IEP |
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 chr18:71,292,406...71,300,342
Ensembl chr18:71,292,374...71,300,794
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G |
Atp5f1d |
ATP synthase F1 subunit delta |
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ISO |
|
RGD |
PMID:28474567 |
RGD:13792588 |
NCBI chr 7:9,560,604...9,565,919
Ensembl chr 7:9,560,608...9,565,929
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G |
Atp5mg |
ATP synthase membrane subunit G |
|
ISO |
|
RGD |
PMID:28474567 |
RGD:13792588 |
NCBI chr 8:45,225,680...45,233,630
Ensembl chr 8:45,225,686...45,233,559
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G |
Atp5pf |
ATP synthase peripheral stalk subunit F6 |
|
ISO |
ClinVar Annotator: match by term: Alzheimer disease |
ClinVar |
PMID:16369530 PMID:16921174 PMID:24691562 PMID:25741868 |
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NCBI chr11:23,881,594...23,889,581
Ensembl chr11:23,881,592...23,889,119
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G |
Atp5po |
ATP synthase peripheral stalk subunit OSCP |
treatment |
ISO |
|
RGD |
PMID:30266287 PMID:30266287 |
RGD:14696823, RGD:14696823 |
NCBI chr11:31,165,218...31,171,530
Ensembl chr11:31,165,217...31,171,592
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G |
Atp6v0e1 |
ATPase H+ transporting V0 subunit e1 |
|
ISO |
|
RGD |
PMID:23211594 |
RGD:10401913 |
NCBI chr10:16,479,656...16,502,732
Ensembl chr10:16,479,567...16,524,434
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G |
Atp7a |
ATPase copper transporting alpha |
|
IEP |
mRNA:decreased expression:pituitary gland, vascular plexus (rat) |
RGD |
PMID:20027333 |
RGD:8657017 |
NCBI chr X:71,094,144...71,201,550
Ensembl chr X:71,094,202...71,198,354
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G |
Atr |
ATR serine/threonine kinase |
|
ISO |
|
RGD |
PMID:23861893 |
RGD:10047419 |
NCBI chr 8:96,426,704...96,524,152
Ensembl chr 8:96,426,724...96,524,136
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G |
Bace1 |
beta-secretase 1 |
susceptibility treatment |
ISO IEP |
CTD Direct Evidence: marker/mechanism |
RGD CTD |
PMID:12824768 PMID:16407166 PMID:12824768 PMID:28763060 PMID:29038004 |
RGD:1358439, RGD:1358439, RGD:13782083, RGD:13782077 |
NCBI chr 8:46,142,060...46,166,268
Ensembl chr 8:46,142,116...46,165,876
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G |
Bace2 |
beta-secretase 2 |
susceptibility |
ISO |
mRNA,protein:increased expression:gyrus: DNA:SNP,haplotype:exon: |
RGD |
PMID:22074738 PMID:16023140 |
RGD:13782172, RGD:13782180 |
NCBI chr11:36,707,447...36,789,550
Ensembl chr11:36,707,458...36,789,546
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G |
Bad |
BCL2-associated agonist of cell death |
treatment |
ISO |
protein:increased expression:temporal cortex, membrane |
RGD |
PMID:15339646 PMID:9507158 |
RGD:10053639, RGD:10053642 |
NCBI chr 1:204,133,502...204,142,829
Ensembl chr 1:204,131,501...204,142,823
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G |
Baiap2 |
BAR/IMD domain containing adaptor protein 2 |
|
ISO |
protein:decreased expression:cerebral cortex, postsynaptic density (human) |
RGD |
PMID:23537733 |
RGD:11576299 |
NCBI chr10:105,223,065...105,290,130
Ensembl chr10:105,223,090...105,290,134
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G |
Bak1 |
BCL2-antagonist/killer 1 |
|
ISO |
protein:increased expression:temporal cortex, membrane |
RGD |
PMID:9507158 |
RGD:10053642 |
NCBI chr20:5,100,480...5,109,669
Ensembl chr20:5,100,480...5,109,264
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G |
Barhl1 |
BarH-like homeobox 1 |
|
ISO |
protein:decreased expression:brain |
RGD |
PMID:28956815 |
RGD:14390165 |
NCBI chr 3:12,241,327...12,248,649
Ensembl chr 3:12,241,327...12,248,649
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G |
Bax |
BCL2 associated X, apoptosis regulator |
treatment |
IEP ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:18077176 PMID:17639989 PMID:29587274 PMID:29777699 PMID:21585051 PMID:16265626 PMID:8990132 More...
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RGD:2293073, RGD:13782188, RGD:13782186, RGD:10054049, RGD:10054047, RGD:10054039 |
NCBI chr 1:95,940,001...95,945,407
Ensembl chr 1:95,938,808...95,945,368
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G |
Bcan |
brevican |
|
ISO |
protein:altered modification:brain |
RGD |
PMID:20180882 |
RGD:14392785 |
NCBI chr 2:173,454,479...173,467,717
Ensembl chr 2:173,454,482...173,467,460
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G |
Bche |
butyrylcholinesterase |
severity |
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:23022600 PMID:22012848 PMID:16973370 |
RGD:5687327, RGD:5688056 |
NCBI chr 2:158,308,674...158,401,148
Ensembl chr 2:158,307,584...158,401,148
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G |
Bcl2 |
BCL2, apoptosis regulator |
treatment |
IEP ISO IDA |
CTD Direct Evidence: marker/mechanism protein:increased expression:temporal cortex, membrane |
CTD RGD |
PMID:18077176 PMID:17639989 PMID:29587274 PMID:29777699 PMID:26897372 PMID:21585051 PMID:16265626 PMID:9507158 More...
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RGD:2293073, RGD:13782188, RGD:13782186, RGD:11522767, RGD:10054049, RGD:10054047, RGD:10053642 |
NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743 Ensembl chr13:22,684,989...22,853,743
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G |
Bcl2l1 |
Bcl2-like 1 |
|
ISO |
protein:increased expression:temporal cortex, membrane |
RGD |
PMID:9507158 |
RGD:10053642 |
NCBI chr 3:141,253,508...141,304,582
Ensembl chr 3:141,253,523...141,303,479
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G |
Bcl2l2 |
Bcl2-like 2 |
treatment |
ISO IEP |
protein:increased expression:hippocampus, cortex |
RGD |
PMID:15147516 PMID:20460763 |
RGD:14394419, RGD:14394421 |
NCBI chr15:28,346,449...28,361,627
Ensembl chr15:28,356,807...28,361,624
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G |
Bdnf |
brain-derived neurotrophic factor |
treatment no_association onset |
IMP ISO IEP |
CTD Direct Evidence: marker/mechanism DNA:polymorphisms: :196G>A (p.V66M), 270C>T (human) DNA:polymorphisms, haplotypes: :196G>A (p.V66M), 270C>T, 11757G>C (human) DNA:polymorphism: :p.V66M (human) protein:decreased expression:parietal cortex DNA:SNP:CDS:rs1048218 (human) |
CTD RGD |
PMID:17344400 PMID:20646587 PMID:30776009 PMID:24877042 PMID:16565926 PMID:23215636 PMID:16627933 PMID:12654514 PMID:18780967 PMID:15118671 More...
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RGD:4891131, RGD:405850256, RGD:10059402, RGD:10059346, RGD:10059345, RGD:10059343, RGD:10058980, RGD:5508228, RGD:1331525 |
NCBI chr 3:96,165,042...96,215,621
Ensembl chr 3:96,165,042...96,215,615
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G |
Becn1 |
beclin 1 |
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ISO |
protein:decreased expression:gray matter |
RGD |
PMID:18497889 PMID:20863706 |
RGD:6483101, RGD:6483102 |
NCBI chr10:86,231,387...86,246,742
Ensembl chr10:86,231,388...86,246,742
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G |
Bin1 |
bridging integrator 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21460841 PMID:33589840 |
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NCBI chr18:24,009,731...24,067,267
Ensembl chr18:24,009,653...24,067,263
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G |
Bmp4 |
bone morphogenetic protein 4 |
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ISO |
|
RGD |
PMID:19463786 |
RGD:10414082 |
NCBI chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306
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G |
Bptf |
bromodomain PHD finger transcription factor |
|
ISO |
protein:increased expression:microglia: |
RGD |
PMID:9792236 |
RGD:9586059 |
NCBI chr10:91,980,279...92,082,731
Ensembl chr10:91,982,758...92,082,769
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G |
Brip1 |
BRCA1 interacting helicase 1 |
|
ISO |
associated with Down Syndrome;protein:increased ubiquitination:frontal cortex (human) |
RGD |
PMID:25391381 |
RGD:11252150 |
NCBI chr10:70,907,266...71,031,502
Ensembl chr10:70,907,371...71,030,324
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G |
Btg3 |
BTG anti-proliferation factor 3 |
|
ISO |
ClinVar Annotator: match by term: Alzheimer disease |
ClinVar |
PMID:16369530 PMID:16921174 PMID:24691562 |
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NCBI chr11:17,030,156...17,046,069
Ensembl chr11:17,030,160...17,046,170
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G |
C11h21orf91 |
similar to human chromosome 21 open reading frame 91 |
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ISO |
ClinVar Annotator: match by term: Alzheimer disease |
ClinVar |
PMID:16369530 PMID:16921174 PMID:24691562 |
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NCBI chr11:17,229,129...17,262,307
Ensembl chr11:17,229,138...17,262,483
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G |
C1qb |
complement C1q B chain |
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ISO |
mRNA:increased expression:microglial cell |
RGD |
PMID:1362796 |
RGD:1599518 |
NCBI chr 5:149,118,843...149,124,394
Ensembl chr 5:149,118,846...149,124,407
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G |
C2 |
complement C2 |
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ISO |
DNA:SNP, haplotype: :p.E318D (rs9332739) (human) |
RGD |
PMID:22300950 |
RGD:7401250 |
NCBI chr20:3,951,474...3,970,376
Ensembl chr20:3,951,474...3,976,505
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G |
C3 |
complement C3 |
|
ISO |
DNA:SNP: :rs22300199 (human) |
RGD |
PMID:22300950 |
RGD:7401250 |
NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429
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G |
C5ar1 |
complement C5a receptor 1 |
|
ISO |
protein:decreased expression:brain |
RGD |
PMID:12759460 |
RGD:5130177 |
NCBI chr 1:76,948,622...76,959,826
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G |
Cacna1c |
calcium voltage-gated channel subunit alpha1 C |
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ISO |
protein:decreased expression:brain |
RGD |
PMID:23403102 |
RGD:13782264 |
NCBI chr 4:151,764,138...152,379,454
Ensembl chr 4:151,764,138...152,379,648
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G |
Calm1 |
calmodulin 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism protein:decreased expression:cerebellar cortex: |
CTD RGD |
PMID:11470324 PMID:11470324 |
RGD:13792493 |
NCBI chr 6:119,487,691...119,495,759
Ensembl chr 6:119,487,621...119,498,227
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G |
Calml5 |
calmodulin-like 5 |
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ISO |
protein:altered expression:neuron,glia |
RGD |
PMID:11470324 |
RGD:13792493 |
NCBI chr17:66,394,433...66,395,352
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G |
Camk2a |
calcium/calmodulin-dependent protein kinase II alpha |
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ISO |
|
RGD |
PMID:15621017 |
RGD:13681926 |
NCBI chr18:54,378,642...54,441,120
Ensembl chr18:54,378,784...54,438,994
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G |
Capn1 |
calpain 1 |
onset |
ISO |
protein:increased activity:brain: |
RGD |
PMID:8622780 PMID:11231011 |
RGD:13792495, RGD:13792663 |
NCBI chr 1:203,275,912...203,300,848
Ensembl chr 1:203,277,344...203,300,177
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G |
Capn2 |
calpain 2 |
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ISO |
protein:increased expression:cytosol |
RGD |
PMID:9654354 |
RGD:13792661 |
NCBI chr13:94,150,244...94,200,969
Ensembl chr13:94,150,240...94,200,969
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G |
Casp1 |
caspase 1 |
|
ISO |
|
RGD |
PMID:12633148 |
RGD:13782269 |
NCBI chr 8:2,587,812...2,597,403
Ensembl chr 8:2,587,831...2,597,383
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G |
Casp12 |
caspase 12 |
treatment |
IEP |
|
RGD |
PMID:29126976 |
RGD:13782165 |
NCBI chr 8:2,642,296...2,669,549
Ensembl chr 8:2,642,434...2,674,037
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G |
Casp2 |
caspase 2 |
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ISO |
|
RGD |
PMID:12633148 |
RGD:13782269 |
NCBI chr 4:71,149,632...71,167,388
Ensembl chr 4:71,149,669...71,167,379
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G |
Casp3 |
caspase 3 |
treatment |
ISO IEP |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:18077176 PMID:10319819 PMID:29642617 PMID:12633148 PMID:29587274 PMID:29777699 More...
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RGD:734692, RGD:13782291, RGD:13782269, RGD:13782188, RGD:13782186 |
NCBI chr16:45,662,910...45,681,171
Ensembl chr16:45,662,910...45,684,648
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G |
Casp6 |
caspase 6 |
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ISO |
|
RGD |
PMID:12633148 |
RGD:13782269 |
NCBI chr 2:218,466,063...218,478,503
Ensembl chr 2:218,466,076...218,478,502
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G |
Casp7 |
caspase 7 |
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ISO |
DNA:SNPs, haplotype |
RGD |
PMID:26621834 PMID:12633148 |
RGD:11344490, RGD:13782269 |
NCBI chr 1:255,437,438...255,476,737
Ensembl chr 1:255,437,172...255,476,729
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G |
Casp8 |
caspase 8 |
treatment |
ISO IEP |
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RGD |
PMID:16772874 PMID:29642617 PMID:12633148 |
RGD:13782268, RGD:13782291, RGD:13782269 |
NCBI chr 9:60,263,863...60,312,542
Ensembl chr 9:60,264,075...60,312,542
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G |
Casp9 |
caspase 9 |
treatment |
IEP ISO |
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RGD |
PMID:29777699 PMID:12633148 |
RGD:13782186, RGD:13782269 |
NCBI chr 5:154,108,872...154,126,628
Ensembl chr 5:154,109,046...154,126,626
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G |
Cass4 |
Cas scaffold protein family member 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30320580 PMID:33589840 |
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NCBI chr 3:161,162,520...161,202,523
Ensembl chr 3:161,163,436...161,202,186
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G |
Cast |
calpastatin |
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ISO |
protein:decreased expression:brain |
RGD |
PMID:20595388 PMID:19020018 |
RGD:5509799, RGD:5509809 |
NCBI chr 2:3,973,112...4,082,658
Ensembl chr 2:3,973,112...4,082,659
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G |
Cav1 |
caveolin 1 |
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ISS |
OMIM:104300 | OMIM:502500 | OMIM:604154 | OMIM:608907 |
MouseDO |
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NCBI chr 4:45,640,624...45,673,708
Ensembl chr 4:45,634,918...45,673,705
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G |
Ccdc6 |
coiled-coil domain containing 6 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:33589840 |
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NCBI chr20:18,432,177...18,528,186
Ensembl chr20:18,433,695...18,528,658
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G |
Ccl5 |
C-C motif chemokine ligand 5 |
|
ISO |
mRNA:increased expression:cerebrum, blood vessels (human) |
RGD |
PMID:18440671 |
RGD:4890025 |
NCBI chr10:68,322,826...68,327,380
Ensembl chr10:68,322,829...68,327,377
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G |
Ccng1 |
cyclin G1 |
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ISO |
protein:increased expression:brain, neuron |
RGD |
PMID:12214116 |
RGD:2316025 |
NCBI chr10:25,176,231...25,182,604
Ensembl chr10:25,176,234...25,181,641
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G |
Ccr1 |
C-C motif chemokine receptor 1 |
severity |
ISO |
|
RGD |
PMID:14595653 |
RGD:5688166 |
NCBI chr 8:123,556,286...123,561,841
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G |
Ccr5 |
C-C motif chemokine receptor 5 |
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ISO IMP |
protein:increased expression:brain, microglia (human) |
RGD |
PMID:9665462 PMID:15979806 |
RGD:4890447, RGD:4890446 |
NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
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G |
Cd2ap |
CD2-associated protein |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21460840 PMID:21460841 PMID:30320580 |
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NCBI chr 9:18,086,744...18,182,744
Ensembl chr 9:18,086,984...18,182,199
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G |
Cd33 |
CD33 molecule |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21460840 PMID:21460841 |
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NCBI chr 1:93,935,418...93,940,452
Ensembl chr 1:93,930,971...93,950,149
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G |
Cd36 |
CD36 molecule |
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ISO |
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RGD |
PMID:16563568 |
RGD:6893531 |
NCBI chr 4:17,317,343...17,410,084
Ensembl chr 4:17,354,466...17,513,903
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G |
Cd40 |
CD40 molecule |
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ISO |
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RGD |
PMID:21414686 |
RGD:5490302 |
NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
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G |
Cd40lg |
CD40 ligand |
|
ISO |
protein:increased expression:frontal cortex, astrocyte |
RGD |
PMID:11755016 PMID:11755016 |
RGD:8547803, RGD:8547803 |
NCBI chr X:135,127,052...135,138,768
Ensembl chr X:135,126,969...135,138,306
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G |
Cdc42 |
cell division cycle 42 |
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ISO |
|
RGD |
PMID:10817927 |
RGD:5688277 |
NCBI chr 5:149,555,069...149,593,239
Ensembl chr 5:149,553,724...149,593,111
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G |
Cdk5 |
cyclin-dependent kinase 5 |
treatment |
IEP ISO |
DNA:SNP:intron:g.149800G>C (human) |
RGD |
PMID:28269780 PMID:28085018 PMID:15917097 |
RGD:13508590, RGD:13792587, RGD:13782365 |
NCBI chr 4:10,754,682...10,760,110
Ensembl chr 4:10,754,687...10,760,112
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G |
Cdk5r1 |
cyclin-dependent kinase 5 regulatory subunit 1 |
|
ISO |
DNA:SNP:3' UTR:rs735555 (human) |
RGD |
PMID:28578378 PMID:19154537 PMID:24725413 |
RGD:13782362, RGD:13782364, RGD:13782363 |
NCBI chr10:65,484,266...65,485,467
Ensembl chr10:65,483,941...65,488,456
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G |
Cdk7 |
cyclin-dependent kinase 7 |
|
ISO |
protein:increased expression:neuron: |
RGD |
PMID:11124424 |
RGD:10059352 |
NCBI chr 2:31,840,558...31,865,422
Ensembl chr 2:31,840,558...31,865,383
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G |
Cebpa |
CCAAT/enhancer binding protein alpha |
|
ISO |
protein:decreased expression:forebrain, hindbrain (mouse) mRNA:increased expression:hippocampus (human) |
RGD |
PMID:21492414 PMID:14769913 |
RGD:10401190, RGD:10401224 |
NCBI chr 1:87,759,631...87,762,303
Ensembl chr 1:87,759,433...87,762,412
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G |
Cebpb |
CCAAT/enhancer binding protein beta |
treatment |
ISO |
mRNA:increased expression:hippocampus CA1 (human) |
RGD |
PMID:12391607 PMID:23911420 |
RGD:10401229, RGD:10401268 |
NCBI chr 3:156,398,035...156,399,466
Ensembl chr 3:156,397,052...156,399,473
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G |
Cftr |
CF transmembrane conductance regulator |
|
ISO |
protein:decreased expression:hypothalamus |
RGD |
PMID:14757935 |
RGD:11566025 |
NCBI chr 4:46,561,269...46,728,759
Ensembl chr 4:46,560,885...46,728,756
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G |
Chat |
choline O-acetyltransferase |
|
IEP ISO |
DNA:polymorphism:CDS:4G>A (human) |
RGD |
PMID:16834974 PMID:12401548 |
RGD:1600851, RGD:1358495 |
NCBI chr16:7,657,362...7,717,093
Ensembl chr16:7,657,362...7,717,093
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G |
Chodl |
chondrolectin |
|
ISO |
ClinVar Annotator: match by term: Alzheimer disease |
ClinVar |
PMID:16369530 PMID:16921174 PMID:24691562 |
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NCBI chr11:17,654,137...17,676,450
Ensembl chr11:17,654,206...17,676,441
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G |
Chrna4 |
cholinergic receptor nicotinic alpha 4 subunit |
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ISO |
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RGD |
PMID:15465084 |
RGD:1358509 |
NCBI chr 3:168,136,246...168,157,839
Ensembl chr 3:168,136,266...168,156,957
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G |
Chrna7 |
cholinergic receptor nicotinic alpha 7 subunit |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:18071042 PMID:15465084 |
RGD:1358509 |
NCBI chr 1:116,711,559...116,837,269
Ensembl chr 1:116,714,711...116,837,240
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G |
Chrnb2 |
cholinergic receptor nicotinic beta 2 subunit |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17192785 |
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NCBI chr 2:175,181,402...175,189,619
Ensembl chr 2:175,181,402...175,189,619
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G |
Cib1 |
calcium and integrin binding 1 |
|
IEP |
protein:decreased expression:brain (human) |
RGD |
PMID:15885068 |
RGD:10401854 |
NCBI chr 1:134,178,331...134,183,895
Ensembl chr 1:134,178,331...134,213,423
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G |
Clock |
clock circadian regulator |
susceptibility |
ISO |
DNA:snp:intron:c.982+247G>C (rs1554483) (human) DNA:snp:3' utr:c.3111T>C (human) DNA:snp:intron:c.560-1279C>G (rs4580704) (human) |
RGD |
PMID:23781009 PMID:23912676 PMID:23357097 |
RGD:10401861, RGD:10401872, RGD:10401862 |
NCBI chr14:31,908,542...31,992,673
Ensembl chr14:31,908,566...31,990,400
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G |
Clu |
clusterin |
|
ISO |
ClinVar Annotator: match by term: Alzheimer disease CTD Direct Evidence: marker/mechanism |
ClinVar CTD RGD |
PMID:19734902 PMID:19734903 PMID:21460841 PMID:28492532 PMID:29476165 PMID:9560017 More...
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RGD:8903235 |
NCBI chr15:40,161,068...40,200,315
Ensembl chr15:40,174,617...40,200,315
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G |
Cnp |
2',3'-cyclic nucleotide 3' phosphodiesterase |
|
ISO |
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RGD |
PMID:21918687 |
RGD:6483333 |
NCBI chr10:85,511,164...85,517,723
Ensembl chr10:85,511,160...85,517,720
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G |
Cox7c |
cytochrome c oxidase subunit 7C |
|
ISO |
|
RGD |
PMID:28474567 |
RGD:13792588 |
NCBI chr 2:16,841,771...16,843,796
Ensembl chr 2:16,840,837...16,843,760
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G |
Crebbp |
CREB binding protein |
treatment |
ISO |
protein:increased phosphorylation:hippocampus: |
RGD |
PMID:21149712 PMID:17760871 |
RGD:10059608, RGD:10059609 |
NCBI chr10:11,335,551...11,461,888
Ensembl chr10:11,335,953...11,461,888
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G |
Crh |
corticotropin releasing hormone |
|
ISO |
protein:decreased expression:cerebral cortex (human) CTD Direct Evidence: therapeutic |
CTD RGD |
PMID:7477348 PMID:7477348 |
RGD:5508831 |
NCBI chr 2:102,143,055...102,144,919
Ensembl chr 2:102,143,055...102,144,919
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G |
Crp |
C-reactive protein |
|
ISO |
|
RGD |
PMID:22202667 |
RGD:6904208 |
NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178
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G |
Csf1r |
colony stimulating factor 1 receptor |
|
ISO |
ClinVar Annotator: match by term: Alzheimer disease |
ClinVar |
PMID:30279455 |
|
NCBI chr18:54,546,673...54,590,418
Ensembl chr18:54,546,659...54,590,415
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G |
Csnk1a1 |
casein kinase 1, alpha 1 |
|
ISO |
protein:increased expression:CA1 field of hippocampus: |
RGD |
PMID:10514399 |
RGD:10395229 |
NCBI chr18:55,017,049...55,050,184
Ensembl chr18:55,017,055...55,049,271
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G |
Csnk1d |
casein kinase 1, delta |
severity |
ISO |
protein:increased expression:CA1 field of hippocampus: mRNA,protein:increased expression:brain: |
RGD |
PMID:10514399 PMID:10814741 |
RGD:10395229, RGD:10395230 |
NCBI chr10:106,221,992...106,256,620
Ensembl chr10:106,221,992...106,256,614
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G |
Csnk1e |
casein kinase 1, epsilon |
|
ISO |
protein:increased expression:CA1 field of hippocampus: |
RGD |
PMID:10514399 |
RGD:10395229 |
NCBI chr 7:110,983,322...111,006,926
Ensembl chr 7:110,983,318...111,006,794
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G |
Cst3 |
cystatin C |
susceptibility |
ISO |
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 chr 3:136,336,923...136,340,796
Ensembl chr 3:136,336,920...136,340,822
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G |
Ctnnb1 |
catenin beta 1 |
treatment |
ISO IEP |
protein:increased expression:neuron,cytoplasm: protein:decreased expression:hippocampus protein:decreased expression:nucleus: |
RGD |
PMID:15781969 PMID:12610652 PMID:11226152 |
RGD:10395258, RGD:10395276, RGD:1302533 |
NCBI chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111
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G |
Ctsd |
cathepsin D |
|
ISO |
|
RGD |
PMID:11304834 |
RGD:1358532 |
NCBI chr 1:197,527,467...197,539,343
Ensembl chr 1:197,527,467...197,539,488
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G |
Ctss |
cathepsin S |
|
ISO |
|
RGD |
PMID:7717452 |
RGD:5686914 |
NCBI chr 2:183,086,437...183,114,483
Ensembl chr 2:183,086,437...183,114,483
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G |
Cxadr |
CXADR, Ig-like cell adhesion molecule |
|
ISO |
ClinVar Annotator: match by term: Alzheimer disease |
ClinVar |
PMID:16369530 PMID:16921174 PMID:24691562 |
|
NCBI chr11:16,982,864...17,030,078
Ensembl chr11:16,982,860...17,030,046
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|
G |
Cyp19a1 |
cytochrome P450, family 19, subfamily a, polypeptide 1 |
|
ISO |
mRNA:altered expression:cerebellum, hippocampus (human) DNA:polymorphism |
RGD |
PMID:18180323 PMID:16882736 |
RGD:4889108, RGD:1600861 |
NCBI chr 8:54,552,978...54,580,375
Ensembl chr 8:54,553,165...54,580,758
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|
G |
Cyp2d4 |
cytochrome P450, family 2, subfamily d, polypeptide 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:7574463 |
|
NCBI chr 7:113,882,584...113,891,754
Ensembl chr 7:113,881,618...113,891,759
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|
G |
Cyp46a1 |
cytochrome P450, family 46, subfamily a, polypeptide 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:19286353 PMID:12232784 |
RGD:1358575 |
NCBI chr 6:127,247,543...127,274,765
Ensembl chr 6:127,243,315...127,274,760
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G |
Cyyr1 |
cysteine and tyrosine rich 1 |
|
ISO |
ClinVar Annotator: match by term: Alzheimer disease |
ClinVar |
PMID:16369530 PMID:16921174 PMID:24691562 PMID:25741868 |
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NCBI chr11:24,557,620...24,664,007
Ensembl chr11:24,515,316...24,663,961
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G |
Dbn1 |
drebrin 1 |
disease_progression |
ISO |
protein:decreased expression:hippocampal formation: mRNA:decreased expression:parietal cortex, temporal cortex, hippocampus: protein:decreased expression:hippocampus,neuronal spine: |
RGD |
PMID:8838578 PMID:18338803 PMID:17912741 |
RGD:10395286, RGD:10398821, RGD:10398820 |
NCBI chr17:9,150,608...9,164,982
Ensembl chr17:9,150,659...9,164,984
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G |
Ddr1 |
discoidin domain receptor tyrosine kinase 1 |
treatment |
ISO |
|
RGD |
PMID:28863860 |
RGD:150519888 |
NCBI chr20:3,042,494...3,064,442
Ensembl chr20:3,044,320...3,064,468
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G |
Dhcr24 |
24-dehydrocholesterol reductase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23042211 |
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NCBI chr 5:121,344,552...121,371,124
Ensembl chr 5:121,344,575...121,371,137
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G |
Dlg4 |
discs large MAGUK scaffold protein 4 |
|
ISO |
|
RGD |
PMID:24156266 |
RGD:13792688 |
NCBI chr10:54,740,700...54,769,097
Ensembl chr10:54,739,470...54,767,153
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G |
Dlst |
dihydrolipoamide S-succinyltransferase |
susceptibility |
ISO |
DNA:polymorphisms: : |
RGD |
PMID:10227647 |
RGD:1358587 |
NCBI chr 6:104,758,511...104,783,296
Ensembl chr 6:104,758,631...104,783,296
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G |
Dnm1 |
dynamin 1 |
|
ISO IEP |
protein:decreased expression:hippocampus,entorhinal cortex: mRNA,protein:decreased expression:hippocampus, temporal cortex denntate gyrus, hippocampus, entorhinal cortex |
RGD |
PMID:20847448 PMID:20847448 PMID:20847448 |
RGD:13506238, RGD:13506238, RGD:13506238 |
NCBI chr 3:15,604,782...15,648,654
Ensembl chr 3:15,604,784...15,648,538
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G |
Dnm1l |
dynamin 1-like |
|
ISO |
protein:decreased expression:hippocampus (human) |
RGD |
PMID:19605646 |
RGD:7800727 |
NCBI chr11:84,581,216...84,632,382
Ensembl chr11:84,581,216...84,631,482
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G |
Dpysl2 |
dihydropyrimidinase-like 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19374891 |
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NCBI chr15:41,005,551...41,111,724
Ensembl chr15:41,005,551...41,111,829
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G |
Drd1 |
dopamine receptor D1 |
|
ISO |
protein:decreased expression:frontal cortex, neuron |
RGD |
PMID:17182012 |
RGD:5686412 |
NCBI chr17:10,540,440...10,544,971
Ensembl chr17:10,540,558...10,545,002
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G |
Drd2 |
dopamine receptor D2 |
|
ISO |
protein:decreased expression:blood, lymphocyte |
RGD |
PMID:11087905 |
RGD:5686416 |
NCBI chr 8:49,708,927...49,772,876
Ensembl chr 8:49,708,927...49,772,875
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G |
Drd3 |
dopamine receptor D3 |
|
ISO |
protein:decreased expression:frontal cortex, neuron |
RGD |
PMID:17182012 |
RGD:5686412 |
NCBI chr11:56,879,689...56,931,901
Ensembl chr11:56,879,689...56,940,596
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G |
Drd4 |
dopamine receptor D4 |
|
ISO |
protein:decreased expression:frontal cortex, neuron |
RGD |
PMID:17182012 |
RGD:5686412 |
NCBI chr 1:196,396,366...196,400,824
Ensembl chr 1:196,396,366...196,399,553
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G |
Drd5 |
dopamine receptor D5 |
|
ISO |
protein:increased expression:frontal cortex, neuron |
RGD |
PMID:17182012 |
RGD:5686412 |
NCBI chr14:72,487,950...72,491,050
Ensembl chr14:72,489,347...72,490,774
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G |
Dync1h1 |
dynein cytoplasmic 1 heavy chain 1 |
|
ISO |
protein:increased expression:brain |
RGD |
PMID:9402150 |
RGD:13207349 |
NCBI chr 6:129,615,208...129,680,888
Ensembl chr 6:129,609,397...129,680,883
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G |
E2f1 |
E2F transcription factor 1 |
|
ISO |
protein:increased expression:cerebral cortex,cytoplasm: |
RGD |
PMID:11939591 |
RGD:10401093 |
NCBI chr 3:143,064,535...143,075,362
Ensembl chr 3:143,049,478...143,075,361
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G |
Ece1 |
endothelin converting enzyme 1 |
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ISO |
|
RGD |
PMID:15340356 |
RGD:1580902 |
NCBI chr 5:150,077,679...150,179,375
Ensembl chr 5:150,077,644...150,179,371
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G |
Eef1a2 |
eukaryotic translation elongation factor 1 alpha 2 |
|
ISO |
protein:increased expression:CA1field of hippocampus: |
RGD |
PMID:8750861 |
RGD:10401216 |
NCBI chr 3:168,265,893...168,275,071
Ensembl chr 3:168,195,357...168,275,071
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G |
Eef2 |
eukaryotic translation elongation factor 2 |
|
ISO |
protein:hyperphosphorylation:brain: |
RGD |
PMID:1331687 |
RGD:10401652 |
NCBI chr 7:8,533,248...8,538,518
Ensembl chr 7:8,533,116...8,559,183
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G |
Eef2k |
eukaryotic elongation factor-2 kinase |
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ISO |
|
RGD |
PMID:16098202 |
RGD:10401651 |
NCBI chr 1:175,393,119...175,456,756
Ensembl chr 1:175,393,154...175,455,164
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G |
Egf |
epidermal growth factor |
|
ISO |
protein:decreased expression:platelet |
RGD |
PMID:21875409 |
RGD:10059680 |
NCBI chr 2:218,219,408...218,302,359
Ensembl chr 2:218,219,415...218,302,064
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G |
Egfr |
epidermal growth factor receptor |
treatment |
ISO |
|
RGD |
PMID:23019586 |
RGD:10059684 |
NCBI chr14:91,176,979...91,349,722
Ensembl chr14:91,177,067...91,344,382
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G |
Egr1 |
early growth response 1 |
treatment |
ISO |
protein:increased expression:temporal cortex, hippocampus (human) |
RGD |
PMID:21489990 PMID:23642031 PMID:21969301 |
RGD:5131647, RGD:10395279, RGD:10395277 |
NCBI chr18:26,462,967...26,466,766
Ensembl chr18:26,462,981...26,466,766
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G |
Eif2ak2 |
eukaryotic translation initiation factor 2-alpha kinase 2 |
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ISO |
protein:increased threonine phosphorylation:hippocampus |
RGD |
PMID:24315369 PMID:15567511 |
RGD:10395344, RGD:10395348 |
NCBI chr 6:16,189,000...16,224,972
Ensembl chr 6:16,188,979...16,224,971
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G |
Eif2s1 |
eukaryotic translation initiation factor 2 subunit alpha |
severity |
ISO |
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 chr 6:97,672,829...97,697,499
Ensembl chr 6:97,672,766...97,706,225
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G |
Elk1 |
ETS transcription factor ELK1 |
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ISO |
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RGD |
PMID:20126313 |
RGD:7488914 |
NCBI chr X:1,138,826...1,155,713
Ensembl chr X:1,139,756...1,155,713
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G |
Eno1 |
enolase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism protein:increased S-glutathionylation, decreased activity:inferior parietal cortex |
CTD RGD |
PMID:19374891 PMID:17387692 |
RGD:13792613 |
NCBI chr 5:160,719,951...160,731,337
Ensembl chr 5:160,719,951...160,731,336
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G |
Ep300 |
E1A binding protein p300 |
|
ISO |
mRNA:increased expression:temporal cortex (human) |
RGD |
PMID:23585551 |
RGD:7327146 |
NCBI chr 7:113,108,476...113,178,529
Ensembl chr 7:113,106,247...113,136,088 Ensembl chr 7:113,106,247...113,136,088
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G |
Epha1 |
Eph receptor A1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21460840 PMID:21460841 |
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NCBI chr 4:71,246,409...71,260,920
Ensembl chr 4:71,246,409...71,260,846
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G |
Epha4 |
Eph receptor A4 |
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ISO |
protein:decreased expression:hippocampus |
RGD |
PMID:19542617 PMID:19542617 |
RGD:6218956, RGD:6218956 |
NCBI chr 9:78,815,460...78,958,139
Ensembl chr 9:78,815,460...78,958,139
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G |
Ephb2 |
Eph receptor B2 |
ameliorates |
ISO |
|
RGD |
PMID:21113149 |
RGD:12859080 |
NCBI chr 5:148,889,574...149,077,027
Ensembl chr 5:148,897,246...149,077,059
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G |
Ephx1 |
epoxide hydrolase 1 |
|
ISO |
protein:increased expression:hippocampus |
RGD |
PMID:16630050 |
RGD:5688388 |
NCBI chr13:92,714,315...92,744,105
Ensembl chr13:92,714,315...92,790,235
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G |
Epo |
erythropoietin |
treatment |
ISO |
|
RGD |
PMID:22004348 PMID:23813967 |
RGD:10395389, RGD:10400882 |
NCBI chr12:19,204,258...19,207,948
Ensembl chr12:19,204,508...19,207,946
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G |
Epor |
erythropoietin receptor |
|
ISO |
protein:increased expression:brain, astrocyte |
RGD |
PMID:17483696 |
RGD:10395387 |
NCBI chr 8:20,489,678...20,494,257
Ensembl chr 8:20,489,678...20,494,257
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G |
Ercc2 |
ERCC excision repair 2, TFIIH core complex helicase subunit |
|
ISO |
protein:increased expression:brain |
RGD |
PMID:9714461 |
RGD:5688738 |
NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102
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G |
Ercc3 |
ERCC excision repair 3, TFIIH core complex helicase subunit |
|
ISO |
protein:increased expression:brain |
RGD |
PMID:9714461 |
RGD:5688738 |
NCBI chr18:23,883,613...23,914,326
Ensembl chr18:23,883,580...23,914,329
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G |
Esr1 |
estrogen receptor 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:17192785 PMID:10558867 |
RGD:1358612 |
NCBI chr 1:41,106,335...41,499,104
Ensembl chr 1:41,210,475...41,495,002
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G |
Esr2 |
estrogen receptor 2 |
susceptibility |
ISO |
DNA:SNPs:3' utr: (rs4986938), (rs1255953) (human) DNA:snps:introns:IVS3-1880C>T, IVS4+1231C>T (rs1271573, rs1256043) (human) protein:decreased expression:choroid plexus mRNA:increased expression:cerebral cortex |
RGD |
PMID:17132983 PMID:15944651 PMID:15082146 PMID:15916731 |
RGD:5508768, RGD:8693346, RGD:5508784, RGD:5508772 |
NCBI chr 6:94,858,438...94,909,630
Ensembl chr 6:94,809,547...94,908,919
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G |
F2 |
coagulation factor II, thrombin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:8333868 |
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NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486
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G |
Fabp3 |
fatty acid binding protein 3 |
|
ISO |
protein:decreased expression:cerebral cortex (human) |
RGD |
PMID:15068254 |
RGD:1578460 |
NCBI chr 5:142,651,962...142,658,707
Ensembl chr 5:142,651,956...142,658,718
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G |
Fadd |
Fas associated via death domain |
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ISO |
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RGD |
PMID:16085017 |
RGD:13782385 |
NCBI chr 1:199,743,200...199,745,746
Ensembl chr 1:199,739,994...199,745,653
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G |
Fas |
Fas cell surface death receptor |
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ISO |
DNA:snp:promoter:g.-670G>A (human) protein:increased expression:brain, plaque (human) |
RGD |
PMID:11129341 PMID:12742739 |
RGD:1358615, RGD:8663481 |
NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
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G |
Fgf1 |
fibroblast growth factor 1 |
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ISO |
|
RGD |
PMID:20079650 |
RGD:5509878 |
NCBI chr18:30,686,555...30,772,667
Ensembl chr18:30,686,581...30,772,357
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G |
Fgfr1 |
Fibroblast growth factor receptor 1 |
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ISO |
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RGD |
PMID:9748519 |
RGD:10402073 |
NCBI chr16:66,491,930...66,547,161
Ensembl chr16:66,494,042...66,547,350
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G |
Fis1 |
fission, mitochondrial 1 |
|
ISO |
protein:increased expression:hippocampus (human) |
RGD |
PMID:19605646 |
RGD:7800727 |
NCBI chr12:19,708,560...19,723,392
Ensembl chr12:19,708,558...19,723,377
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G |
Foxo3 |
forkhead box O3 |
|
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 chr20:45,669,708...45,764,606
Ensembl chr20:45,672,995...45,764,561
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G |
Fxyd6 |
FXYD domain-containing ion transport regulator 6 |
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ISO |
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RGD |
PMID:19760337 |
RGD:13801191 |
NCBI chr 8:45,679,054...45,705,958
Ensembl chr 8:45,678,885...45,705,958
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G |
Fyn |
FYN proto-oncogene, Src family tyrosine kinase |
|
ISO |
protein:decreased expression:cerebral cortex, soluble fraction (human) |
RGD |
PMID:14999081 PMID:15708437 |
RGD:1358600, RGD:1358602 |
NCBI chr20:42,767,733...42,960,903
Ensembl chr20:42,766,369...42,959,911
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G |
Gabpa |
GA binding protein transcription factor subunit alpha |
|
ISO |
ClinVar Annotator: match by term: Alzheimer disease |
ClinVar |
PMID:16369530 PMID:16921174 PMID:22491860 PMID:24691562 PMID:25741868 PMID:28492532 More...
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|
NCBI chr11:23,888,586...23,917,612
Ensembl chr11:23,888,815...23,917,605
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G |
Gapdh |
glyceraldehyde-3-phosphate dehydrogenase |
onset susceptibility |
ISO IDA |
DNA:snps:5' utr, intron: (rs3741916, rs1060621) (human) protein:decreased activity:cerebral cortex, cerebellum protein:decreased activity:cerebral cortex, hippocampus protein:increased S-glutathionylation, decreased activity:inferior parietal cortex DNA:SNPs, haplotypes: :rs740850, rs1060620 (human) DNA:SNP:5' utr:rs3741916 (human) |
RGD |
PMID:15507493 PMID:17324518 PMID:17324518 PMID:17387692 PMID:18340469 PMID:20864222 PMID:28087189 More...
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RGD:1358618, RGD:13792614, RGD:13792614, RGD:13792613, RGD:13792612, RGD:13792611, RGD:13792604 |
NCBI chr 4:157,962,312...157,967,158
Ensembl chr 4:157,962,343...157,966,235
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G |
Gapdhs |
glyceraldehyde-3-phosphate dehydrogenase, spermatogenic |
onset |
ISO |
DNA:snps:promoter, intron: (rs4806173, rs12984928) (human) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:17192785 PMID:15507493 |
RGD:1358618 |
NCBI chr 1:85,979,096...85,994,153
Ensembl chr 1:85,979,098...85,993,640
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G |
Gcg |
glucagon |
|
ISO |
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RGD |
PMID:23035082 |
RGD:10402366 |
NCBI chr 3:47,113,914...47,122,958
Ensembl chr 3:47,113,914...47,122,929
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G |
Gdnf |
glial cell derived neurotrophic factor |
treatment |
ISO |
mRNA, protein:alternate form, decreased expression:brain |
RGD |
PMID:22081608 PMID:30776009 |
RGD:5688777, RGD:405850256 |
NCBI chr 2:56,894,022...56,919,935
Ensembl chr 2:56,895,010...56,917,209
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G |
Ghrh |
growth hormone releasing hormone |
treatment |
ISO |
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RGD |
PMID:23211425 |
RGD:10401233 |
NCBI chr 3:145,992,762...146,012,528
Ensembl chr 3:145,992,763...146,011,889
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G |
Glud1 |
glutamate dehydrogenase 1 |
|
ISO |
protein:increased expression:brain protein:increased expression, decreased oxidation:brain |
RGD |
PMID:16341942 PMID:16298240 |
RGD:6484555, RGD:6484556 |
NCBI chr16:9,640,312...9,673,961
Ensembl chr16:9,640,312...9,673,957
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G |
Glul |
glutamate-ammonia ligase |
|
ISO |
protein:increased oxidation:brain (human) protein:increased expression:cerebrospinal fluid:significant increase in active protein vs normal patients and controls with other neurological disorders (human) |
RGD |
PMID:12160938 PMID:1361232 |
RGD:2301427, RGD:2301429 |
NCBI chr13:65,969,053...66,035,121
Ensembl chr13:66,025,630...66,035,108
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G |
Gnas |
GNAS complex locus |
|
ISO |
|
RGD |
PMID:8012802 |
RGD:10401266 |
NCBI chr 3:163,071,003...163,136,350
Ensembl chr 3:163,071,417...163,127,262 Ensembl chr 3:163,071,417...163,127,262
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G |
Grid2ip |
Grid2 interacting protein |
|
ISO |
ClinVar Annotator: match by term: Alzheimer disease, early onset |
ClinVar |
PMID:25741868 |
|
NCBI chr12:11,166,567...11,203,765
Ensembl chr12:11,167,874...11,203,676
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G |
Grin1 |
glutamate ionotropic receptor NMDA type subunit 1 |
|
ISO |
|
RGD |
PMID:24156266 |
RGD:13792688 |
NCBI chr 3:8,103,680...8,130,603
Ensembl chr 3:8,103,680...8,130,603
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G |
Grin2a |
glutamate ionotropic receptor NMDA type subunit 2A |
|
ISO |
|
RGD |
PMID:24156266 |
RGD:13792688 |
NCBI chr10:5,629,683...6,053,262
Ensembl chr10:5,631,369...6,044,637
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G |
Grin2b |
glutamate ionotropic receptor NMDA type subunit 2B |
no_association |
ISO |
DNA:SNPs:promoter, exon, 3' utr:-200T>G (rs1019385), 2664C>T (rs1806201), 5072G>T (rs890) (human) DNA:SNPs:promoter:-200T>G (rs1019385), -1447T>C, -1497G>A (rs12368476) (human) DNA:SNP:promoter:-421C>A (rs3764028) (human) DNA:SNP: :2664C>T (rs1806201) (human) DNA:SNP, haplotype: :rs1806201 (human) |
RGD |
PMID:24156266 PMID:18303265 PMID:18983893 PMID:18983893 PMID:24292895 PMID:24292895 More...
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RGD:13792688, RGD:13792714, RGD:13792713, RGD:13792713, RGD:13792709, RGD:13792709 |
NCBI chr 4:168,580,824...169,044,110
Ensembl chr 4:168,599,546...169,042,279
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G |
Grk5 |
G protein-coupled receptor kinase 5 |
|
ISO |
DNA: deletion: exons 7,8: heterozygote |
RGD |
PMID:18522748 |
RGD:5688375 |
NCBI chr 1:260,028,269...260,223,699
Ensembl chr 1:260,028,242...260,218,701
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G |
Grn |
granulin precursor |
severity onset |
ISO |
DNA:SNP:3'UTR:rs5848(human) ClinVar Annotator: match by term: Alzheimer disease DNA:SNPs: :rs5848, rs850713, rs4792939 (human) DNA:mutations: : mRNA, protein:increased expression:microglia, neuron: DNA:deletion:exon:c.154delA(human) |
ClinVar RGD |
PMID:16199547 PMID:16862116 PMID:16950801 PMID:22608501 PMID:28492532 PMID:30279455 PMID:31031559 PMID:20197700 PMID:19016491 PMID:18565828 PMID:19557827 PMID:20142525 More...
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RGD:5509600, RGD:10401636, RGD:5509616, RGD:5509606, RGD:5509601 |
NCBI chr10:87,387,672...87,393,777
Ensembl chr10:87,387,638...87,393,775
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G |
Gsk3a |
glycogen synthase kinase 3 alpha |
treatment |
ISO |
|
RGD |
PMID:18410522 PMID:22623685 |
RGD:10401797, RGD:10401801 |
NCBI chr 1:80,815,843...80,825,732
Ensembl chr 1:80,815,850...80,825,802
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G |
Gsk3b |
glycogen synthase kinase 3 beta |
treatment |
ISO IDA |
DNA:SNP:promoter:rs334558 (human) CTD Direct Evidence: marker/mechanism protein:decreased phosphorylation:hippocampus: DNA:altered methylation:CpG island: |
CTD RGD |
PMID:17409235 PMID:22944069 PMID:11226152 PMID:29257340 PMID:27893738 PMID:19154537 PMID:22623685 PMID:22982863 PMID:22048123 PMID:24101602 More...
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RGD:1302533, RGD:13792777, RGD:13792736, RGD:13782364, RGD:10401801, RGD:10045670, RGD:10045669, RGD:10045668 |
NCBI chr11:62,498,997...62,648,665
Ensembl chr11:62,504,316...62,648,646
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G |
Gsr |
glutathione-disulfide reductase |
treatment |
ISO IEP |
protein:decreased expression:blood mRNA:increased expression:hippocampus |
RGD |
PMID:17721818 PMID:21376020 PMID:19374888 PMID:10096042 |
RGD:10401827, RGD:10401857, RGD:10401849, RGD:10401847 |
NCBI chr16:58,482,209...58,525,256
Ensembl chr16:58,482,505...58,525,661
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G |
Gss |
glutathione synthetase |
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ISO |
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RGD |
PMID:15693022 |
RGD:5508441 |
NCBI chr 3:144,047,849...144,078,197
Ensembl chr 3:144,047,850...144,078,198
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G |
Gstm3 |
glutathione S-transferase mu 3 |
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ISO |
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RGD |
PMID:15621212 |
RGD:5688745 |
NCBI chr 2:195,590,450...195,612,578
Ensembl chr 2:195,607,289...195,612,475
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G |
Gstm5 |
glutathione S-transferase, mu 5 |
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ISO |
DNA:SNP:cds: rs7483 (human) |
RGD |
PMID:18423940 |
RGD:5688729 |
NCBI chr 2:195,531,599...195,534,562
Ensembl chr 2:195,531,495...195,534,553
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G |
Gsto1 |
glutathione S-transferase omega 1 |
onset susceptibility no_association |
ISO |
DNA:polymorphism:exon:p. A140D (rs4925) (human) |
RGD |
PMID:14570706 PMID:20818931 PMID:15917099 |
RGD:1358651, RGD:5490521, RGD:5490514 |
NCBI chr 1:246,721,089...246,731,228
Ensembl chr 1:246,721,221...246,731,468
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G |
Gsto2 |
glutathione S-transferase omega 2 |
onset no_association |
ISO |
DDNA:polymorphism: : -183 A>G (rs2297235)(human) DNA:polymorphism:promoter: -183 A>G (rs2297235)(human) |
RGD |
PMID:14570706 PMID:15917099 |
RGD:1358651, RGD:5490514 |
NCBI chr 1:246,731,314...246,757,592
Ensembl chr 1:246,732,089...246,753,866
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G |
Gstp1 |
glutathione S-transferase pi 1 |
susceptibility onset |
ISO |
mRNA:decreased expression:cerebral cortex DNA:polymorphisms DNA:polymorphism:exon: |
RGD |
PMID:15805147 PMID:23211594 PMID:24584466 PMID:17911365 |
RGD:5490123, RGD:10401913, RGD:10401912, RGD:5490271 |
NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226
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G |
Gstt1 |
glutathione S-transferase theta 1 |
susceptibility onset |
ISO |
DNA:deletion: : |
RGD |
PMID:10215103 PMID:17911365 |
RGD:5490213, RGD:5490271 |
NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585
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G |
Gucy1b1 |
guanylate cyclase 1 soluble subunit beta 1 |
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ISO |
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RGD |
PMID:15571982 |
RGD:10401946 |
NCBI chr 2:167,348,824...167,398,983
Ensembl chr 2:167,348,825...167,398,916
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G |
Hadha |
hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha |
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ISO |
protein:decreased expression:brain |
RGD |
PMID:25260493 |
RGD:10047114 |
NCBI chr 6:26,187,969...26,227,605
Ensembl chr 6:26,187,956...26,227,869
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G |
Hadhb |
hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta |
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ISO |
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RGD |
PMID:11430884 |
RGD:1600786 |
NCBI chr 6:26,153,572...26,187,668
Ensembl chr 6:26,153,578...26,184,869
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G |
Hba-a1 |
hemoglobin alpha, adult chain 1 |
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IEP |
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RGD |
PMID:21428213 |
RGD:10450508 |
NCBI chr10:15,337,265...15,338,121
Ensembl chr10:15,307,815...15,338,392
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G |
Hdac2 |
histone deacetylase 2 |
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ISO |
protein:increased expression:hippocampus: |
RGD |
PMID:22388814 |
RGD:9590324 |
NCBI chr20:40,548,244...40,571,609
Ensembl chr20:40,548,250...40,571,609
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G |
Hfe |
homeostatic iron regulator |
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ISO |
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:9162021 PMID:9356458 PMID:9462220 PMID:10194428 PMID:10660483 PMID:11336458 PMID:11358905 PMID:11399207 PMID:11423500 PMID:11479183 PMID:11532995 PMID:11812557 PMID:11874997 PMID:11904676 PMID:12377814 PMID:12429850 PMID:12885340 PMID:14673107 PMID:15060098 PMID:15347835 PMID:15546588 PMID:16132052 PMID:16186539 PMID:17042772 PMID:17047092 PMID:17210810 PMID:17308297 PMID:17600748 PMID:18566337 PMID:19159930 PMID:19554541 PMID:19560233 PMID:19681031 PMID:20107990 PMID:20301613 PMID:20560808 PMID:21243428 PMID:21349849 PMID:21452290 PMID:23178241 PMID:23429074 PMID:24033266 PMID:24729993 PMID:25741868 PMID:26153218 PMID:26365338 PMID:26975792 PMID:27173269 PMID:28280078 PMID:28443246 PMID:28492532 PMID:28617828 PMID:29404719 PMID:30291871 PMID:31220083 PMID:31980526 PMID:15060098 More...
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RGD:1358657 |
NCBI chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502
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G |
Hif1a |
hypoxia inducible factor 1 subunit alpha |
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ISO |
mRNA, protein:increased expression:cerebral cortex, microvessel (human) protein:increased expression:brain, microvessel (mouse) |
RGD |
PMID:16627934 PMID:21904637 |
RGD:9068875, RGD:9068888 |
NCBI chr 6:92,624,059...92,669,262
Ensembl chr 6:92,624,390...92,669,261
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G |
Hmgb1 |
high mobility group box 1 |
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ISO |
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RGD |
PMID:23905994 |
RGD:10402058 |
NCBI chr12:5,972,950...5,979,658
Ensembl chr12:5,901,586...5,978,565 Ensembl chr16:5,901,586...5,978,565
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G |
Hmgcr |
3-hydroxy-3-methylglutaryl-CoA reductase |
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ISO |
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RGD |
PMID:17724290 |
RGD:5508460 |
NCBI chr 2:27,997,523...28,018,983
Ensembl chr 2:27,997,525...28,019,703
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G |
Hmox1 |
heme oxygenase 1 |
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ISO |
protein:increased expression:hippocampus, temporal cortex (human) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:11144356 PMID:7778849 |
RGD:1358658 |
NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
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G |
Hnrnpa1 |
heterogeneous nuclear ribonucleoprotein A1 |
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ISO |
protein:decreased expression:entorhinal cortex (human) |
RGD |
PMID:22628224 |
RGD:9999191 |
NCBI chr 7:134,375,318...134,381,610
Ensembl chr 7:134,375,150...134,381,609
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G |
Hnrnpa2b1 |
heterogeneous nuclear ribonucleoprotein A2/B1 |
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ISO |
protein:decreased expression:entorhinal cortex (human) |
RGD |
PMID:22628224 |
RGD:9999191 |
NCBI chr 4:80,534,659...80,545,297
Ensembl chr 4:80,534,651...80,545,249
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G |
Hras |
HRas proto-oncogene, GTPase |
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ISO |
protein:increased expression:brain, neuron (human) |
RGD |
PMID:10661494 |
RGD:10412306 |
NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615
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G |
Hsd17b10 |
hydroxysteroid (17-beta) dehydrogenase 10 |
treatment |
ISO |
protein:increased expression:brain (human) protein:increased expression:hippocampus, neuron, mitochondria |
RGD |
PMID:9338779 PMID:11869808 PMID:21307267 |
RGD:1358426, RGD:632866, RGD:13792781 |
NCBI chr X:21,089,142...21,091,603
Ensembl chr X:21,089,122...21,109,488
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G |
Hsd17b3 |
hydroxysteroid (17-beta) dehydrogenase 3 |
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ISO |
mRNA:altered expression:cerebellum, hippocampus (human) |
RGD |
PMID:18180323 |
RGD:4889108 |
NCBI chr17:1,027,229...1,058,554
Ensembl chr17:1,027,229...1,058,554
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G |
Hsd3b1 |
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 |
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ISO |
mRNA:altered expression:cerebellum, hippocampus (human) |
RGD |
PMID:18180323 |
RGD:4889108 |
NCBI chr 2:186,169,864...186,175,984
Ensembl chr 2:186,169,863...186,175,999
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G |
Hsd3b2 |
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 |
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ISO |
mRNA:altered expression:cerebellum, hippocampus (human) |
RGD |
PMID:18180323 |
RGD:4889108 |
NCBI chr 2:186,095,897...186,105,354
Ensembl chr 2:186,095,897...186,101,852
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G |
Hsf1 |
heat shock transcription factor 1 |
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ISO IEP |
protein:altered localization:promoter (mouse) protein:decreased expression:cerebellum (rat) |
RGD |
PMID:24849358 PMID:23665061 |
RGD:10402385, RGD:10402771 |
NCBI chr 7:108,196,040...108,223,011
Ensembl chr 7:108,196,056...108,223,011
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G |
Hsp90aa1 |
heat shock protein 90 alpha family class A member 1 |
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ISO |
protein:decreased expression:serum (human) |
RGD |
PMID:23948885 |
RGD:10413860 |
NCBI chr 6:129,702,376...129,707,907
Ensembl chr 6:129,702,383...129,707,268
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G |
Hspa13 |
heat shock protein family A (Hsp70) member 13 |
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ISO |
ClinVar Annotator: match by term: Alzheimer disease |
ClinVar |
PMID:16369530 PMID:16921174 PMID:24691562 |
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NCBI chr11:14,375,669...14,389,853
Ensembl chr11:14,373,275...14,389,895
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G |
Hspa1a |
heat shock protein family A (Hsp70) member 1A |
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ISO |
DNA:polymorphism: :-110A>C(human) |
RGD |
PMID:15832029 |
RGD:10402403 |
NCBI chr20:3,870,765...3,873,221
Ensembl chr20:3,856,006...3,873,227
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G |
Hspa1b |
heat shock protein family A (Hsp70) member 1B |
disease_progression |
ISO |
DNA:polymorphism: : |
RGD |
PMID:12967056 |
RGD:10402401 |
NCBI chr20:3,855,104...3,859,148
Ensembl chr20:3,856,006...3,873,240 Ensembl chr20:3,856,006...3,873,240
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G |
Hspa9 |
heat shock protein family A (Hsp70) member 9 |
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ISO |
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RGD |
PMID:17050040 PMID:17050040 |
RGD:10402560, RGD:10402560 |
NCBI chr18:26,536,131...26,554,294
Ensembl chr18:26,535,798...26,554,292
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G |
Hspb1 |
heat shock protein family B (small) member 1 |
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IEP |
mRNA,protein:increased expression:brainstem, astrocyte: |
RGD |
PMID:25772164 |
RGD:10402580 |
NCBI chr12:20,794,014...20,795,675
Ensembl chr12:20,794,028...20,795,743
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G |
Hspd1 |
heat shock protein family D (Hsp60) member 1 |
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IDA ISO |
protein:increased modification:brain protein:increased expression:mitochondrion: protein:increased expression:cytosol, mitochondrion: |
RGD |
PMID:15802185 PMID:22753410 PMID:22753410 |
RGD:1624243, RGD:10402831, RGD:10402831 |
NCBI chr 9:56,579,195...56,590,011
Ensembl chr 9:56,579,201...56,589,662
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G |
Htr1a |
5-hydroxytryptamine receptor 1A |
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ISO |
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RGD |
PMID:20508993 |
RGD:5683632 |
NCBI chr 2:36,693,462...36,698,026
Ensembl chr 2:36,694,174...36,695,442
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G |
Htr2a |
5-hydroxytryptamine receptor 2A |
treatment |
IDA |
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RGD |
PMID:26889223 |
RGD:401901085 |
NCBI chr15:49,950,035...50,022,188
Ensembl chr15:49,950,804...50,020,928
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G |
Htr6 |
5-hydroxytryptamine receptor 6 |
susceptibility |
ISO |
DNA:silent mutation:cds: 267C>T (human) |
RGD |
PMID:10624811 |
RGD:1358662 |
NCBI chr 5:151,295,269...151,312,853
Ensembl chr 5:151,296,662...151,311,912
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G |
Htra2 |
HtrA serine peptidase 2 |
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ISO |
protein:increased activity:frontal cortex (human) |
RGD |
PMID:21163861 |
RGD:5688722 |
NCBI chr 4:115,556,914...115,560,202
Ensembl chr 4:115,556,916...115,560,095
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G |
Icam1 |
intercellular adhesion molecule 1 |
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ISO |
DNA:missense mutation:cds:p.K469E (human) |
RGD |
PMID:12498973 |
RGD:1358664 |
NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
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G |
Ide |
insulin degrading enzyme |
treatment |
ISO IEP IDA |
protein:decreased expression:cerebrospinal fluid associated with Insulin Resistance CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:17192785 PMID:12634421 PMID:28157092 PMID:28164769 PMID:29948724 PMID:26963025 PMID:28447730 PMID:28553348 PMID:30224067 More...
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RGD:737718, RGD:13792829, RGD:13792824, RGD:13792800, RGD:13792798, RGD:13792793, RGD:13792792, RGD:13792790 |
NCBI chr 1:235,002,984...235,102,448
Ensembl chr 1:234,995,351...235,102,440
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G |
Igf1 |
insulin-like growth factor 1 |
treatment onset susceptibility |
ISO |
protein:decreased expression:hippocampus: CTD Direct Evidence: marker/mechanism protein:increased expression:serum: DNA:polymorphism:intron: rs972936(human) protein:altered expression:plasma,cerebral spinal fluid: |
CTD RGD |
PMID:15750215 PMID:23740209 PMID:10399774 PMID:24054991 PMID:23089282 PMID:24301648 PMID:24301648 More...
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RGD:10045852, RGD:10402576, RGD:10045860, RGD:10045854, RGD:10045853, RGD:10045853 |
NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
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G |
Igf1r |
insulin-like growth factor 1 receptor |
treatment severity |
ISO IEP IMP |
DNA: haploinsufficiency:: full knockout dies at birth CTD Direct Evidence: marker/mechanism protein:increased expression: cerebral cortex: protein:increased expression:temporal cortex: |
CTD RGD |
PMID:15750215 PMID:20409077 PMID:23562514 PMID:18479783 PMID:18479783 PMID:16274856 PMID:16274856 PMID:19487308 More...
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RGD:5686420, RGD:12904921, RGD:10045894, RGD:10045894, RGD:10045879, RGD:10045879, RGD:10045878 |
NCBI chr 1:121,549,831...121,838,548
Ensembl chr 1:121,550,743...121,831,777
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G |
Igf2 |
insulin-like growth factor 2 |
treatment |
IEP ISO |
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 chr 1:197,814,409...197,831,802
Ensembl chr 1:197,814,410...197,823,018
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G |
Igf2r |
insulin-like growth factor 2 receptor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15750215 |
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NCBI chr 1:47,979,109...48,067,501
Ensembl chr 1:47,979,109...48,067,501
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G |
Igfbp2 |
insulin-like growth factor binding protein 2 |
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ISO |
protein:decreased expression:temporal cortex: |
RGD |
PMID:18479783 |
RGD:10045894 |
NCBI chr 9:74,415,574...74,442,945
Ensembl chr 9:74,415,546...74,442,937
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G |
Igfbp3 |
insulin-like growth factor binding protein 3 |
treatment |
ISO |
protein:increased expression:serum mRNA:decreased expression:hippocampus |
RGD |
PMID:23473966 PMID:10399774 PMID:24964199 |
RGD:10402570, RGD:10402576, RGD:10402572 |
NCBI chr14:82,056,347...82,064,083
Ensembl chr14:82,056,347...82,064,083
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G |
Ikbkb |
inhibitor of nuclear factor kappa B kinase subunit beta |
treatment |
IEP |
protein:increased expression:hippocampus: |
RGD |
PMID:24380241 |
RGD:10045941 |
NCBI chr16:69,319,487...69,373,251
Ensembl chr16:69,319,554...69,373,250
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G |
Il10 |
interleukin 10 |
susceptibility treatment |
ISO |
DNA:SNPs,haplotype: -1082G>A, -819T>C, -592C>A (human) |
RGD |
PMID:14746878 PMID:21803105 |
RGD:1358665, RGD:7364841 |
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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G |
Il1a |
interleukin 1 alpha |
susceptibility disease_progression no_association |
ISO |
protein:increased expression:microglial cell, cortical layer: DNA:SNP:5'UTR:rs1800587(human) |
RGD |
PMID:10716257 PMID:9775393 PMID:11402127 PMID:19158434 |
RGD:1358667, RGD:10046059, RGD:10045947, RGD:10045945 |
NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
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G |
Il1b |
interleukin 1 beta |
onset no_association treatment |
ISO IEP IDA |
protein:increased expression:plasma DNA:SNP: :rs1143634 (human) DNA:SNP:promoter:-31T>C (human) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:18675847 PMID:16600299 PMID:20413850 PMID:18830724 PMID:18830724 PMID:23378761 PMID:26937653 PMID:24022074 PMID:24874542 PMID:29447949 PMID:22963993 More...
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RGD:1626633, RGD:13793381, RGD:13792820, RGD:13792820, RGD:13792819, RGD:11522340, RGD:13792818, RGD:13792817, RGD:13792816, RGD:7204700 |
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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G |
Il2 |
interleukin 2 |
severity |
ISO |
protein:increased secretion:mononuclear cell: |
RGD |
PMID:8915041 PMID:8586980 |
RGD:10047080, RGD:10047081 |
NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
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G |
Il3 |
interleukin 3 |
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ISO |
protein:decreased expression:plasma |
RGD |
PMID:17934472 PMID:18769539 |
RGD:5686815, RGD:5686817 |
NCBI chr10:38,405,716...38,408,066
Ensembl chr10:38,405,716...38,408,066
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G |
Il33 |
interleukin 33 |
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ISS |
OMIM:608907 |
MouseDO |
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NCBI chr 1:227,701,964...227,736,374
Ensembl chr 1:227,721,435...227,736,373
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G |
Il4 |
interleukin 4 |
|
ISO |
DNA:polymorphisms:promoter |
RGD |
PMID:20213229 |
RGD:10402788 |
NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
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G |
Il6 |
interleukin 6 |
treatment |
IDA |
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RGD |
PMID:27088818 |
RGD:11062148 |
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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G |
Il6r |
interleukin 6 receptor |
no_association |
ISO |
protein:increased expression:cerebrospinal fluid, plasma DNA:SNPs:promoter:-208G>A (rs4845617) (human) DNA:SNPs:promoter, exon:-530G>T, 48867A/>C (p.D358A, rs8192284) (human) |
RGD |
PMID:12664314 PMID:20197062 PMID:20197062 |
RGD:10402808, RGD:10402810, RGD:10402810 |
NCBI chr 2:175,289,157...175,347,719
Ensembl chr 2:175,298,686...175,347,536
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G |
Il6st |
interleukin 6 cytokine family signal transducer |
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ISO |
protein:decreased expression:cerebrospinal fluid |
RGD |
PMID:10095017 |
RGD:10402847 |
NCBI chr 2:44,065,979...44,106,255
Ensembl chr 2:44,066,130...44,109,936
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G |
Il7 |
interleukin 7 |
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ISO |
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RGD |
PMID:22571981 |
RGD:10402933 |
NCBI chr 2:94,235,219...94,280,075
Ensembl chr 2:94,234,766...94,280,075
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G |
Inpp5d |
inositol polyphosphate-5-phosphatase D |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30320580 |
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NCBI chr 9:88,287,680...88,392,748
Ensembl chr 9:88,287,677...88,392,746
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G |
Ins1 |
insulin 1 |
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IEP |
mRNA:decreased expression:hippocampus |
RGD |
PMID:17448147 |
RGD:2298713 |
NCBI chr 1:251,244,973...251,245,540
Ensembl chr 1:251,244,973...251,245,536
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G |
Ins2 |
insulin 2 |
|
IEP ISO |
mRNA:decreased expression:cerebral cortex CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:9443474 PMID:15750215 PMID:17448147 |
RGD:2298713 |
NCBI chr 1:197,843,277...197,992,522
Ensembl chr 1:197,843,281...197,864,775
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|
G |
Insr |
insulin receptor |
treatment |
ISO 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 chr12:1,193,193...1,330,976
Ensembl chr12:1,197,100...1,330,883
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G |
Iqck |
IQ motif containing K |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30820047 |
|
NCBI chr 1:173,199,308...173,316,982
Ensembl chr 1:173,199,316...173,316,984
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|
G |
Ireb2 |
iron responsive element binding protein 2 |
|
ISO |
DNA:SNPs: :rs2656070, rs13180(human) |
RGD |
PMID:16914832 |
RGD:6893299 |
NCBI chr 8:55,228,080...55,311,613
Ensembl chr 8:55,228,085...55,311,611
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|
G |
Irs1 |
insulin receptor substrate 1 |
treatment severity |
ISO IEP |
protein:increased expression, increased serine phosphorylation, increased tyrosine phosphorylation:hippocampus CA1 protein:decreased expression:hippocampus: DNA:SNP:cds:rs1801278(human) protein:altered expression:temporal cortex: protein:increased serine phosphorylation:hippocampus |
RGD |
PMID:22476197 PMID:23011726 PMID:22527777 PMID:23660953 PMID:24589556 PMID:18479783 PMID:22476196 More...
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RGD:6482860, RGD:10403036, RGD:10045939, RGD:10045935, RGD:10045932, RGD:10045894, RGD:6482861 |
NCBI chr 9:83,552,964...83,605,797
Ensembl chr 9:83,548,944...83,606,122
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G |
Irs2 |
insulin receptor substrate 2 |
severity |
ISO |
mRNA:decreased expression:hippocampus: protein:decreased expression:temporal cortex: |
RGD |
PMID:19487308 PMID:24887203 PMID:18479783 |
RGD:10045878, RGD:10045934, RGD:10045894 |
NCBI chr16:78,488,249...78,512,482
Ensembl chr16:78,485,045...78,512,482
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|
G |
Itpr1 |
inositol 1,4,5-trisphosphate receptor, type 1 |
|
ISO |
protein:decreased expression:temporal cortex, frontal cortex (human) |
RGD |
PMID:8819138 |
RGD:6482821 |
NCBI chr 4:141,187,377...141,554,240
Ensembl chr 4:141,187,418...141,510,491
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|
G |
Jak2 |
Janus kinase 2 |
treatment |
ISO |
|
RGD |
PMID:18813209 |
RGD:10403051 |
NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189
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G |
Jam2 |
junctional adhesion molecule 2 |
|
ISO |
ClinVar Annotator: match by term: Alzheimer disease |
ClinVar |
PMID:16369530 PMID:16921174 PMID:24691562 PMID:25741868 |
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NCBI chr11:23,830,820...23,880,071
Ensembl chr11:23,831,106...23,880,063
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G |
Kcnc1 |
potassium voltage-gated channel subfamily C member 1 |
|
ISO |
mRNA, protein:decreased expression:neocortex (mouse) |
RGD |
PMID:21912965 |
RGD:9686062 |
NCBI chr 1:96,902,953...96,944,744
Ensembl chr 1:96,902,953...96,944,744
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G |
Kcnc4 |
potassium voltage-gated channel subfamily C member 4 |
|
ISO |
mRNA:decreased expression:neocortex (mouse) mRNA, protein:increased expression: frontal cortex |
RGD |
PMID:21912965 PMID:15485486 |
RGD:9686062, RGD:10411900 |
NCBI chr 2:195,063,967...195,100,244
Ensembl chr 2:195,071,769...195,099,233
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|
G |
Kcnma1 |
potassium calcium-activated channel subfamily M alpha 1 |
onset |
ISO |
DNA:SNP: :rs16934131 (human) |
RGD |
PMID:21480501 |
RGD:10412025 |
NCBI chr15:302,480...1,007,675
Ensembl chr15:302,214...1,001,198
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G |
Kl |
Klotho |
treatment |
ISO |
mRNA,protein:decreased expression:cerebral choroid,serum: |
RGD |
PMID:23973442 |
RGD:10403049 |
NCBI chr12:490,402...531,417
Ensembl chr12:490,399...530,080
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G |
Klc1 |
kinesin light chain 1 |
susceptibility |
ISO |
DNA:SNPs: :rs8007903, rs3212079 (human) DNA:SNP:intron:56836G>C (human) |
RGD |
PMID:19911314 PMID:15364413 |
RGD:5683908, RGD:5684007 |
NCBI chr 6:130,823,416...130,866,729
Ensembl chr 6:130,823,419...130,867,031
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G |
Klk6 |
kallikrein related-peptidase 6 |
|
ISO |
|
RGD |
PMID:12480753 PMID:12074831 |
RGD:1358604, RGD:1358599 |
NCBI chr 1:94,278,863...94,286,136
Ensembl chr 1:94,280,340...94,286,121
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G |
Klrg1 |
killer cell lectin like receptor G1 |
|
ISO |
ClinVar Annotator: match by term: ALPHA-2-MACROGLOBULIN POLYMORPHISM |
ClinVar |
PMID:1370808 PMID:1717945 PMID:9697696 PMID:9811940 PMID:15023809 PMID:24033266 More...
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NCBI chr 4:155,455,465...155,467,301
Ensembl chr 4:155,455,495...155,467,424
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G |
L1cam |
L1 cell adhesion molecule |
|
ISO |
protein:increased expression:cerebrospinal fluid (human) |
RGD |
PMID:16298234 |
RGD:6483456 |
NCBI chr X:151,597,270...151,623,776
Ensembl chr X:151,597,277...151,623,857
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G |
Ldlr |
low density lipoprotein receptor |
no_association |
ISO |
DNA:SNPs:exon:rs5925, rs5927, rs5930 (human) DNA:SNPs:exon (human) DNA:SNPs:exon:rs5925, rs5930, rs11669576 (human) DNA:SNPs: :rs5925, rs2738444, rs11669576 (human) |
RGD |
PMID:21755005 PMID:15585340 PMID:16378661 PMID:15689450 PMID:16741934 PMID:17239995 More...
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RGD:5490231, RGD:5490244, RGD:5490243, RGD:5490242, RGD:5490241, RGD:5490239 |
NCBI chr 8:20,270,020...20,292,981
Ensembl chr 8:20,270,041...20,294,580
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G |
Lep |
leptin |
treatment |
IDA ISO |
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 4:57,661,127...57,675,262
Ensembl chr 4:57,661,131...57,675,262
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G |
Lipc |
lipase C, hepatic type |
no_association |
ISO |
DNA:SNPs: :rs6074, rs6083, rs6084 (human) DNA:SNPs: :rs6084 (human) |
RGD |
PMID:17175070 PMID:17175070 |
RGD:1600644, RGD:1600644 |
NCBI chr 8:71,509,633...71,635,663
Ensembl chr 8:71,509,635...71,635,464
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G |
Lipi |
lipase I |
|
ISO |
ClinVar Annotator: match by term: Alzheimer disease |
ClinVar |
PMID:16369530 PMID:16921174 PMID:24691562 |
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NCBI chr11:14,189,323...14,228,992
Ensembl chr11:14,189,323...14,228,985
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G |
Lpl |
lipoprotein lipase |
no_association severity |
ISO |
DNA:point mutations: :p.N291S, p.S447X (human) DNA:polymorphism:intron DNA:SNPs: :rs268, rs328 (human) DNA:SNPs: :multiple DNA, mRNA:SNP, decreased expression: :rs285 (human) |
RGD |
PMID:24004859 PMID:10206232 PMID:12133567 PMID:15331147 PMID:16013913 PMID:27897113 PMID:16965549 More...
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RGD:13793392, RGD:13799353, RGD:13793397, RGD:13793396, RGD:5685661, RGD:13793395, RGD:13793393 |
NCBI chr16:20,830,055...20,853,855
Ensembl chr16:20,829,465...20,855,249
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G |
Lrp1 |
LDL receptor related protein 1 |
treatment |
ISO IEP ISS |
DNA:SNP:exon 3:C>T (human) OMIM:104300 | OMIM:502500 | OMIM:604154 | OMIM:608907 |
MouseDO RGD |
PMID:9635959 PMID:19150622 PMID:29115637 |
RGD:1358747, RGD:13800553, RGD:13799352 |
NCBI chr 7:63,380,325...63,461,029
Ensembl chr 7:63,380,356...63,460,910
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G |
Lrp1b |
LDL receptor related protein 1B |
onset |
ISO |
mRNA:increased expression:hippocampus (mouse) |
RGD |
PMID:23150673 |
RGD:151665140 |
NCBI chr 3:24,594,302...26,715,037
Ensembl chr 3:24,594,991...26,715,505
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G |
Lrp8 |
LDL receptor related protein 8 |
no_association |
ISO |
DNA:polymorphism:exon:2622T>C (human) DNA:polymorphisms: :multiple |
RGD |
PMID:12399018 PMID:20208369 |
RGD:6483064, RGD:6483065 |
NCBI chr 5:122,563,468...122,635,434
Ensembl chr 5:122,563,453...122,631,352
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G |
Lrpap1 |
LDL receptor related protein associated protein 1 |
onset |
ISO |
|
RGD |
PMID:11425005 |
RGD:1358749 |
NCBI chr14:75,651,371...75,663,380
Ensembl chr14:75,651,376...75,665,414
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G |
Maoa |
monoamine oxidase A |
|
ISO |
|
RGD |
PMID:1627256 |
RGD:10046060 |
NCBI chr X:6,032,172...6,098,308
Ensembl chr X:6,030,795...6,099,593
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G |
Maob |
monoamine oxidase B |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:7816197 PMID:21075085 PMID:1627256 |
RGD:10046060 |
NCBI chr X:5,907,327...6,010,996
Ensembl chr X:5,907,266...6,011,003
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G |
Map2 |
microtubule-associated protein 2 |
|
IDA |
|
RGD |
PMID:22083255 |
RGD:6483322 |
NCBI chr 9:67,723,422...67,981,886
Ensembl chr 9:67,723,371...67,979,809
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G |
Mapk1 |
mitogen activated protein kinase 1 |
treatment onset |
ISO |
mRNA:increased expression: CA2 field of hippocampus, pyramidal neuron |
RGD |
PMID:28079060 PMID:24334724 |
RGD:13800563, RGD:13800868 |
NCBI chr11:83,957,813...84,023,629
Ensembl chr11:83,957,813...84,023,616
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G |
Mapk10 |
mitogen activated protein kinase 10 |
|
ISO |
protein:increased expression:CA1 field of hippocampus: |
RGD |
PMID:11208906 |
RGD:10412676 |
NCBI chr14:6,497,662...6,790,109
Ensembl chr14:6,497,707...6,786,201
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G |
Mapk14 |
mitogen activated protein kinase 14 |
treatment |
IEP ISO |
mRNA:increased expression:frontal lobe cortex, hippocampus CA2 (rat) |
RGD |
PMID:20529587 PMID:17784957 |
RGD:10047076, RGD:10047104 |
NCBI chr20:6,749,646...6,810,590
Ensembl chr20:6,749,670...6,810,589
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G |
Mapk3 |
mitogen activated protein kinase 3 |
treatment |
ISO |
|
RGD |
PMID:28079060 |
RGD:13800563 |
NCBI chr 1:181,366,646...181,372,863
Ensembl chr 1:181,366,637...181,372,863
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G |
Mapk8 |
mitogen-activated protein kinase 8 |
disease_progression |
ISO |
protein:increased expression:brain,CA1 field of hippocampus: |
RGD |
PMID:11208906 |
RGD:10412676 |
NCBI chr16:8,638,897...8,721,960
Ensembl chr16:8,638,924...8,721,981
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G |
Mapk9 |
mitogen-activated protein kinase 9 |
|
ISO |
protein:increased expression:brain,CA1 field of hippocampus: |
RGD |
PMID:11208906 |
RGD:10412676 |
NCBI chr10:34,169,661...34,211,138
Ensembl chr10:34,169,675...34,210,178
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G |
Mapt |
microtubule-associated protein tau |
treatment onset no_association |
ISO IDA |
protein:increased expression:CSF (human) ClinVar Annotator: match by term: Alzheimer disease CTD Direct Evidence: marker/mechanism protein:hyperphosphorylation:brain: DNA:mutation:cds:p.R406W(human) DNA:SNP, haplotypes:promoter:rs242557 (human) DNA:SNPs, haplotypes:promoter:rs242557 (human) |
ClinVar CTD RGD |
PMID:12852432 PMID:14517953 PMID:15750215 PMID:20157255 PMID:21715663 PMID:25352456 PMID:27117003 PMID:30279455 PMID:11520987 PMID:29368621 PMID:27060945 PMID:28342971 PMID:29126976 PMID:8226987 PMID:19252918 PMID:18587238 PMID:23116876 PMID:19308965 More...
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RGD:1302530, RGD:127284889, RGD:13800908, RGD:13800904, RGD:13782165, RGD:10412709, RGD:10412704, RGD:10412701, RGD:8158105, RGD:8158097 |
NCBI chr10:89,138,644...89,236,137
Ensembl chr10:89,138,627...89,236,129
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G |
Mbl2 |
mannose binding lectin 2 |
susceptibility |
ISO |
protein:decreased expression:cerebrospinal fluid (human) DNA:haplotype:promoter: |
RGD |
PMID:9631454 PMID:23348713 |
RGD:4889155, RGD:12910848 |
NCBI chr 1:228,016,439...228,024,736
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G |
Mcm2 |
minichromosome maintenance complex component 2 |
|
ISO |
|
RGD |
PMID:19946466 PMID:17070803 |
RGD:10412048, RGD:10412050 |
NCBI chr 4:121,346,434...121,360,962
Ensembl chr 4:121,346,434...121,360,847
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G |
Mdm4 |
MDM4 regulator of p53 |
disease_progression |
ISO |
|
RGD |
PMID:23861893 |
RGD:10047419 |
NCBI chr13:44,432,596...44,516,165
Ensembl chr13:44,406,213...44,474,226
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G |
Mfn1 |
mitofusin 1 |
|
ISO |
protein:decreased expression:hippocampus (human) |
RGD |
PMID:19605646 |
RGD:7800727 |
NCBI chr 2:115,313,380...115,359,651
Ensembl chr 2:115,313,401...115,359,640
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G |
Mfn2 |
mitofusin 2 |
|
ISO IEP |
protein:decreased expression:hippocampus (human) protein:increased expression:hippocampus (rat) |
RGD |
PMID:19605646 PMID:28302704 |
RGD:7800727, RGD:12910737 |
NCBI chr 5:158,304,285...158,335,502
Ensembl chr 5:158,304,287...158,335,342
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G |
Mir100 |
microRNA 100 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25992776 |
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NCBI chr 8:41,901,225...41,901,304
Ensembl chr 8:41,901,225...41,901,304
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G |
Mir124-3 |
microRNA 124-3 |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:28867212 |
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NCBI chr 3:168,014,952...168,015,038
Ensembl chr 3:168,014,952...168,015,038
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G |
Mir125b2 |
microRNA 125b-2 |
|
ISO |
ClinVar Annotator: match by term: Alzheimer disease |
ClinVar |
PMID:16369530 PMID:16921174 PMID:24691562 |
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NCBI chr11:16,245,620...16,245,707
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G |
Mir132 |
microRNA 132 |
|
ISO |
RNA:decreased expression:brain |
RGD |
PMID:23585551 |
RGD:7327146 |
NCBI chr10:60,023,696...60,023,796
Ensembl chr10:60,023,696...60,023,796
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G |
Mir146a |
microRNA 146a |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22099153 PMID:25992776 |
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NCBI chr10:27,848,516...27,848,610
Ensembl chr10:27,848,516...27,848,610
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G |
Mir155 |
microRNA 155 |
|
ISO |
ClinVar Annotator: match by term: Alzheimer disease |
ClinVar |
PMID:16369530 PMID:16921174 PMID:24691562 PMID:25741868 |
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NCBI chr11:23,774,654...23,774,718
Ensembl chr11:23,774,654...23,774,718
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G |
Mir212 |
microRNA 212 |
|
ISO |
RNA:decreased expression:brain |
RGD |
PMID:23585551 |
RGD:7327146 |
NCBI chr10:60,023,403...60,023,513
Ensembl chr10:60,023,403...60,023,513
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G |
Mir296 |
microRNA 296 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25992776 |
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NCBI chr 3:163,051,838...163,051,915
Ensembl chr 3:163,051,838...163,051,915
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G |
Mir375 |
microRNA 375 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25992776 |
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NCBI chr 9:76,457,911...76,457,985
Ensembl chr 9:76,457,911...76,457,985
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G |
Mir708 |
microRNA 708 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25992776 |
|
NCBI chr 1:150,599,876...150,599,963
Ensembl chr 1:150,599,876...150,599,963
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G |
Mir99a |
microRNA 99a |
|
ISO |
ClinVar Annotator: match by term: Alzheimer disease |
ClinVar |
PMID:16369530 PMID:16921174 PMID:24691562 |
|
NCBI chr11:16,200,443...16,200,523
Ensembl chr11:16,200,443...16,200,523
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G |
Mirlet7c1 |
microRNA let-7c-1 |
|
ISO |
ClinVar Annotator: match by term: Alzheimer disease |
ClinVar |
PMID:16369530 PMID:16921174 PMID:24691562 |
|
NCBI chr11:16,201,163...16,201,256
Ensembl chr11:16,201,158...16,201,265
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G |
Mme |
membrane metallo-endopeptidase |
treatment no_association severity onset |
ISS ISO IEP |
OMIM:104300 | OMIM:502500 | OMIM:604154 | OMIM:608907 associated with Endotoxemia DNA:SNPs, repeat:multiple:multiple DNA:SNPs:introns:rs1836915, rs6776185, rs6801319 (human) DNA:SNPs, haplotypes:promoter, introns:-204G>C, IVS17-294C>T, IVS22+36C>A (human) DNA:SNPs, repeats, deletion:promoter:multiple DNA:repeats DNA:SNPs:5' utr, 3' utr:rs3736187, rs989692, rs701109 (human) DNA:SNPs: :multiple DNA:SNP: :rs6797911 (human) DNA:SNP:3' utr:rs6665 (human) |
MouseDO RGD |
PMID:25416980 PMID:25884928 PMID:20141738 PMID:17928142 PMID:17928142 PMID:12074840 PMID:15860464 PMID:12527400 PMID:11849775 PMID:19606063 PMID:21537452 PMID:22493749 PMID:22493749 PMID:25991605 PMID:28294061 More...
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RGD:13801033, RGD:13801034, RGD:13801024, RGD:13801023, RGD:13801023, RGD:13801022, RGD:13801021, RGD:13801020, RGD:1600813, RGD:13801019, RGD:13801012, RGD:13801011, RGD:13801011, RGD:13801010, RGD:13801009 |
NCBI chr 2:147,686,913...147,803,808
Ensembl chr 2:147,722,086...147,803,792
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G |
Mmp2 |
matrix metallopeptidase 2 |
|
ISO |
protein:decreased expression:platelet |
RGD |
PMID:21875409 |
RGD:10059680 |
NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
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G |
Mmp9 |
matrix metallopeptidase 9 |
|
ISO |
protein:increased expression:plasma (human) |
RGD |
PMID:17697439 |
RGD:7207052 |
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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G |
Mpo |
myeloperoxidase |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Alzheimer disease | ClinVar Annotator: match by term: Alzheimer disease, susceptibility to |
CTD ClinVar |
PMID:11087769 PMID:12915675 PMID:15023809 PMID:17304047 PMID:25741868 |
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NCBI chr10:72,594,883...72,608,862
Ensembl chr10:72,594,661...72,604,819
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G |
Mre11 |
MRE11 homolog, double strand break repair nuclease |
|
ISO |
protein:decreased expression:cerebral cortex (human) |
RGD |
PMID:15337312 |
RGD:2317734 |
NCBI chr 8:11,618,876...11,680,451
Ensembl chr 8:11,632,354...11,678,279
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G |
Mrpl39 |
mitochondrial ribosomal protein L39 |
|
ISO |
ClinVar Annotator: match by term: Alzheimer disease |
ClinVar |
PMID:16369530 PMID:16921174 PMID:24691562 PMID:25741868 |
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NCBI chr11:23,779,655...23,795,146
Ensembl chr11:23,779,662...23,795,125
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G |
Ms4a4a |
membrane spanning 4-domains A4A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21460841 |
|
NCBI chr 1:208,060,507...208,085,121
Ensembl chr 1:208,046,971...208,085,119
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G |
Mt-nd1 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 |
|
ISO |
mRNA:decreased expression:frontal cortex, Brodmann area 9 (human) ClinVar Annotator: match by term: Alzheimer disease |
ClinVar RGD |
PMID:8104867 PMID:15972314 PMID:15075441 |
RGD:5490287 |
NCBI chr MT:2,740...3,694 NCBI chr MT:2,740...3,694 NCBI chr MT:2,740...3,694 NCBI chr MT:2,740...3,694 NCBI chr MT:2,740...3,694 NCBI chr MT:2,740...3,694 NCBI chr MT:2,740...3,694 NCBI chr MT:2,740...3,694
Ensembl chr MT:2,740...3,694
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G |
Mt-nd2 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 |
no_association |
ISO |
DNA:mutation::m.5460G>A (human) |
RGD |
PMID:1352971 PMID:1370613 |
RGD:5507833, RGD:5507834 |
NCBI chr MT:3,904...4,942 NCBI chr MT:3,904...4,942 NCBI chr MT:3,904...4,942 NCBI chr MT:3,904...4,942 NCBI chr MT:3,904...4,942 NCBI chr MT:3,904...4,942 NCBI chr MT:3,904...4,942 NCBI chr MT:3,904...4,942
Ensembl chr MT:3,904...4,942
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G |
Mt-nd4 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 |
|
ISO |
mRNA:decreased expression:brain |
RGD |
PMID:10447460 |
RGD:5508713 |
NCBI chr MT:10,160...11,537 NCBI chr MT:10,160...11,537 NCBI chr MT:10,160...11,537 NCBI chr MT:10,160...11,537 NCBI chr MT:10,160...11,537 NCBI chr MT:10,160...11,537 NCBI chr MT:10,160...11,537
Ensembl chr MT:10,160...11,537
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G |
Mt1 |
metallothionein 1 |
|
ISO |
|
RGD |
PMID:22766972 |
RGD:10412319 |
NCBI chr19:10,826,032...10,827,048
Ensembl chr19:10,826,032...10,827,049 Ensembl chr17:10,826,032...10,827,049
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G |
Mt2A |
metallothionein 2A |
|
ISO IEP |
mRNA:decreased expression:cerebral cortex (rat) |
RGD |
PMID:22766972 PMID:16914836 |
RGD:10412319, RGD:10412320 |
NCBI chr19:10,832,009...10,832,783
Ensembl chr19:10,832,002...10,832,784
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G |
Mt3 |
metallothionein 3 |
|
ISO |
mRNA:decreased expression:brain mRNA:increased expression:brain |
RGD |
PMID:1464312 PMID:10595827 PMID:16444595 PMID:19619132 |
RGD:6480485, RGD:9685805, RGD:6480619, RGD:6480534 |
NCBI chr19:10,848,754...10,850,158
Ensembl chr19:10,848,755...10,850,158
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G |
Mthfr |
methylenetetrahydrofolate reductase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17192785 |
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NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
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G |
Nae1 |
NEDD8 activating enzyme E1 subunit 1 |
|
ISO |
|
RGD |
PMID:14557245 |
RGD:2302388 |
NCBI chr19:446,015...472,145
Ensembl chr19:446,000...472,371
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G |
Napb |
NSF attachment protein beta |
|
ISO |
protein:decreased expression:temporal cortex |
RGD |
PMID:11244216 |
RGD:10412652 |
NCBI chr 3:136,132,248...136,179,280
Ensembl chr 3:136,133,428...136,179,345
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G |
Nbn |
nibrin |
|
ISO |
|
RGD |
PMID:15337312 |
RGD:2317734 |
NCBI chr 5:29,459,574...29,494,152
Ensembl chr 5:29,459,457...29,494,150
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G |
Ncam1 |
neural cell adhesion molecule 1 |
|
IEP |
|
RGD |
PMID:31028587 |
RGD:40925918 |
NCBI chr 8:49,865,629...50,165,687
Ensembl chr 8:49,865,633...50,166,014
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G |
Ncam2 |
neural cell adhesion molecule 2 |
|
ISO |
ClinVar Annotator: match by term: Alzheimer disease |
ClinVar |
PMID:16369530 PMID:16921174 PMID:24691562 |
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NCBI chr11:20,104,974...20,592,168
Ensembl chr11:20,104,925...20,591,984
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G |
Ncf2 |
neutrophil cytosolic factor 2 |
|
ISO |
protein:altered localization |
RGD |
PMID:10873554 |
RGD:2314452 |
NCBI chr13:64,955,622...64,986,144
Ensembl chr13:64,955,503...64,986,277
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G |
Nck2 |
NCK adaptor protein 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:33589840 |
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NCBI chr 9:45,713,979...45,840,330
Ensembl chr 9:45,714,883...45,840,307
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G |
Ncstn |
nicastrin |
no_association onset |
ISO |
CTD Direct Evidence: marker/mechanism DNA:missense mutation, SNPs:exon, intron, 3' utr:multiple DNA:missense mutation: :417N>Y (human) DNA:SNPs, haplotype:introns:multiple protein:increased modification:brain DNA:SNP:promoter:-436C>T (human) DNA:SNPs:promoter:-796T>G, -1216C>A (human) DNA:SNP:promoter:-922G>T (rs10752637) (human) |
CTD RGD |
PMID:17192785 PMID:14642438 PMID:23595812 PMID:11992262 PMID:11992262 PMID:22404891 PMID:19394408 PMID:19394408 PMID:15157994 PMID:19840113 More...
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RGD:13801188, RGD:13801187, RGD:13801052, RGD:13801052, RGD:13801051, RGD:13801050, RGD:13801050, RGD:13801049, RGD:13801048 |
NCBI chr13:84,530,442...84,546,454
Ensembl chr13:84,530,440...84,546,454
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G |
Ndufa2 |
NADH:ubiquinone oxidoreductase subunit A2 |
|
ISO |
|
RGD |
PMID:28474567 |
RGD:13792588 |
NCBI chr18:28,355,774...28,357,863
Ensembl chr18:28,355,774...28,358,076
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G |
Ndufa5 |
NADH:ubiquinone oxidoreductase subunit A5 |
|
ISO |
|
RGD |
PMID:19760337 |
RGD:13801191 |
NCBI chr 4:52,997,327...53,005,685
Ensembl chr 4:52,995,546...53,005,598
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G |
Ndufa6 |
NADH:ubiquinone oxidoreductase subunit A6 |
|
ISO |
mRNA:increased expression:blood |
RGD |
PMID:26943237 |
RGD:11572212 |
NCBI chr 7:113,866,382...113,870,239
Ensembl chr 7:113,866,382...113,870,239
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G |
Ndufb3 |
NADH:ubiquinone oxidoreductase subunit B3 |
|
ISO |
|
RGD |
PMID:28474567 |
RGD:13792588 |
NCBI chr 9:60,129,240...60,139,452
Ensembl chr 9:60,129,154...60,139,446
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G |
Ndufb8 |
NADH:ubiquinone oxidoreductase subunit B8 |
|
ISO |
|
RGD |
PMID:14570706 |
RGD:1358651 |
NCBI chr 1:243,408,656...243,413,715
Ensembl chr 1:243,408,619...243,413,817
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G |
Ndufs3 |
NADH:ubiquinone oxidoreductase core subunit S3 |
onset |
ISO |
|
RGD |
PMID:28242297 |
RGD:13824970 |
NCBI chr 3:76,876,646...76,883,824
Ensembl chr 3:76,876,646...76,883,824
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G |
Nectin2 |
nectin cell adhesion molecule 2 |
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ISO |
DNA:SNP: :rs6859 (human) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:29107063 PMID:30319691 PMID:30320580 PMID:22159054 |
RGD:6484658 |
NCBI chr 1:79,372,123...79,407,379
Ensembl chr 1:79,372,119...79,407,360
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G |
Nefl |
neurofilament light chain |
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ISO |
protein:increased expression:CSF (human) |
RGD |
PMID:29368621 PMID:29391125 |
RGD:127284889, RGD:127285384 |
NCBI chr15:42,301,920...42,305,793
Ensembl chr15:42,301,916...42,305,793
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G |
Nefm |
neurofilament medium chain |
|
ISO |
protein:decreased glycosylation:cerebral cortex |
RGD |
PMID:17687114 |
RGD:9743945 |
NCBI chr15:42,360,449...42,365,753
Ensembl chr15:42,360,454...42,365,755
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G |
Nfe2l2 |
NFE2 like bZIP transcription factor 2 |
onset treatment |
ISO IEP |
DNA:snps, haplotype:5' utr, intron:multiple (human) protein:increased expression:brain, nucleus |
RGD |
PMID:20064547 PMID:19805328 PMID:22913737 PMID:23771816 |
RGD:6893326, RGD:10412689, RGD:10412685, RGD:10412683 |
NCBI chr 3:60,594,239...60,621,712
Ensembl chr 3:60,594,242...60,621,737
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G |
Ngb |
neuroglobin |
treatment |
IEP |
|
RGD |
PMID:23428737 |
RGD:9743955 |
NCBI chr 6:106,744,378...106,749,830
Ensembl chr 6:106,744,378...106,749,830
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G |
Ngf |
nerve growth factor |
|
IEP |
|
RGD |
PMID:21368378 |
RGD:5144128 |
NCBI chr 2:189,901,058...189,954,452
Ensembl chr 2:189,901,058...189,954,452
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G |
Ngfr |
nerve growth factor receptor |
treatment no_association |
ISO IEP |
protein:altered localization:brain protein:altered expression:urine protein:decreased expression:basal nucleus of telencephalon, neuron DNA:SNPs, haplotypes: :multiple DNA:SNP:CDS:rs2072446 (human) |
RGD |
PMID:19334058 PMID:2557638 PMID:23545424 PMID:19070649 PMID:8215963 PMID:10683291 PMID:22236693 PMID:18780967 More...
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RGD:5508225, RGD:10414073, RGD:10413895, RGD:10413894, RGD:10413893, RGD:10413892, RGD:10413891, RGD:5508228 |
NCBI chr10:80,515,287...80,533,518
Ensembl chr10:80,515,299...80,533,518
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G |
Nog |
noggin |
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ISO |
|
RGD |
PMID:19463786 |
RGD:10414082 |
NCBI chr10:74,128,712...74,130,339
Ensembl chr10:74,128,712...74,130,339
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G |
Nos1 |
nitric oxide synthase 1 |
susceptibility no_association |
ISO |
DNA:repeat:promoter DNA:repeat:exon DNA:SNP:exon:-84G>A (human) |
RGD |
PMID:21098972 PMID:12384247 PMID:10964481 PMID:17418914 PMID:17418914 |
RGD:13824974, RGD:13824978, RGD:13824976, RGD:13824975, RGD:13824975 |
NCBI chr12:38,615,111...38,795,492
Ensembl chr12:38,626,714...38,710,945
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G |
Nos2 |
nitric oxide synthase 2 |
|
IDA ISO |
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RGD |
PMID:21163295 PMID:12384247 PMID:16908860 |
RGD:4891161, RGD:13824978, RGD:5508721 |
NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
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G |
Nos3 |
nitric oxide synthase 3 |
onset |
ISO |
human gene in rat model ClinVar Annotator: match by term: Alzheimer disease | ClinVar Annotator: match by term: Alzheimer disease, late-onset, susceptibility to CTD Direct Evidence: marker/mechanism DNA:snp:cds:p.E298D (human) |
ClinVar CTD RGD |
PMID:9737779 PMID:9894802 PMID:10475066 PMID:10510054 PMID:10514107 PMID:11026457 PMID:11354626 PMID:11394896 PMID:11745998 PMID:15007011 PMID:16059745 PMID:16813604 PMID:17165044 PMID:24033266 PMID:25741868 PMID:17413318 PMID:12384247 PMID:10514107 More...
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RGD:2292144, RGD:13824978, RGD:1358752 |
NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
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G |
Npy |
neuropeptide Y |
treatment |
IEP ISO |
CTD Direct Evidence: marker/mechanism protein:decreased expression:plasma |
CTD RGD |
PMID:11709213 PMID:22266216 PMID:8592643 |
RGD:10431479, RGD:10432246 |
NCBI chr 4:78,881,294...78,888,495
Ensembl chr 4:78,881,264...78,888,495
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G |
Nrg1 |
neuregulin 1 |
disease_progression |
ISO IDA |
protein:decreased expression:hippocampus |
RGD |
PMID:12528817 PMID:29914798 PMID:27558862 PMID:29295823 |
RGD:10449002, RGD:13703135, RGD:405650194, RGD:41404730 |
NCBI chr16:59,250,658...60,304,519
Ensembl chr16:59,250,854...60,296,884
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G |
Nrgn |
neurogranin |
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ISO |
|
RGD |
PMID:9329454 |
RGD:9835394 |
NCBI chr 8:37,255,462...37,263,659
Ensembl chr 8:37,256,930...37,257,516
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G |
Nrip1 |
nuclear receptor interacting protein 1 |
|
ISO |
ClinVar Annotator: match by term: Alzheimer disease |
ClinVar |
PMID:16369530 PMID:16921174 PMID:24691562 |
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NCBI chr11:14,895,843...14,979,490
Ensembl chr11:14,895,553...14,981,761
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G |
Nrp1 |
neuropilin 1 |
severity |
ISO |
mRNA,protein:increased expression:brain |
RGD |
PMID:34745215 PMID:34745215 |
RGD:401901163, RGD:401901163 |
NCBI chr19:56,359,455...56,514,628
Ensembl chr19:56,359,455...56,513,633
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G |
Ntf3 |
neurotrophin 3 |
|
ISO |
DNA:missense mutation:cds:p.G63E (human) |
RGD |
PMID:9502217 |
RGD:1358754 |
NCBI chr 4:158,914,984...158,984,453
Ensembl chr 4:158,914,957...158,984,596
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G |
Ntn1 |
netrin 1 |
treatment |
ISO |
|
RGD |
PMID:30066400 |
RGD:13782183 |
NCBI chr10:52,899,933...53,098,591
Ensembl chr10:52,899,934...53,085,326
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G |
Ntrk1 |
neurotrophic receptor tyrosine kinase 1 |
disease_progression |
ISO |
early onset sporadic AD; DNA:SNP:CDS:rs6336 (human) mRNA:decreased expression:brain |
RGD |
PMID:18780967 PMID:21397006 |
RGD:5508228, RGD:5684531 |
NCBI chr 2:173,236,961...173,253,806
Ensembl chr 2:173,236,963...173,253,770
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G |
Ntrk2 |
neurotrophic receptor tyrosine kinase 2 |
treatment |
ISO IEP |
sporadic AD; DNA:SNP:intron:rs2289656 (human) |
RGD |
PMID:18780967 PMID:24877042 PMID:21900882 |
RGD:5508228, RGD:10059402, RGD:5684548 |
NCBI chr17:5,558,992...5,870,299
Ensembl chr17:5,559,043...5,869,136
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G |
Nudt1 |
nudix hydrolase 1 |
|
ISO |
protein:decreased expression:hippocampus |
RGD |
PMID:21538080 |
RGD:10449033 |
NCBI chr12:14,302,514...14,309,559
Ensembl chr12:14,302,694...14,305,826
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G |
Opa1 |
OPA1, mitochondrial dynamin like GTPase |
|
ISO |
protein:decreased expression:brain |
RGD |
PMID:19605646 |
RGD:7800727 |
NCBI chr11:71,108,100...71,185,170
Ensembl chr11:71,109,873...71,185,109
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G |
Pak1 |
p21 (RAC1) activated kinase 1 |
|
ISO |
protein:altered localization |
RGD |
PMID:18347024 |
RGD:2299169 |
NCBI chr 1:152,111,172...152,226,390
Ensembl chr 1:152,111,188...152,226,383
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G |
Parp1 |
poly (ADP-ribose) polymerase 1 |
susceptibility |
ISO |
protein:increased activity:brain: DNA:haplotypes:cds:rs1136410,rs1805404 (human) DNA:haplotypes: : |
RGD |
PMID:22051244 PMID:21616968 PMID:20486200 PMID:17290104 |
RGD:5510011, RGD:10413888, RGD:10413887, RGD:10413885 |
NCBI chr13:92,307,593...92,339,406
Ensembl chr13:92,307,586...92,339,404
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G |
Pawr |
pro-apoptotic WT1 regulator |
|
ISO |
mRNA,protein:increased expression:brain: |
RGD |
PMID:9701251 |
RGD:9835364 |
NCBI chr 7:43,645,028...43,725,033
Ensembl chr 7:43,645,084...43,725,028
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G |
Pcdh11x |
protocadherin 11 X-linked |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Alzheimer disease |
CTD ClinVar |
PMID:19136949 PMID:29476165 |
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NCBI chr X:86,058,348...86,751,078
Ensembl chr X:86,058,394...86,747,036
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G |
Pck1 |
phosphoenolpyruvate carboxykinase 1 |
disease_progression |
ISO |
DNA:SNPs DNA:SNP: :rs8192708(human) |
RGD |
PMID:17440948 PMID:20574532 |
RGD:2311642, RGD:10427727 |
NCBI chr 3:161,930,256...161,936,205
Ensembl chr 3:161,930,256...161,936,191
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G |
Pcmt1 |
protein-L-isoaspartate (D-aspartate) O-methyltransferase 1 |
|
ISO |
mRNA:increased expression:cerebral cortex: |
RGD |
PMID:8736634 |
RGD:10448277 |
NCBI chr 1:2,111,756...2,160,354
Ensembl chr 1:2,111,763...2,159,201
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G |
Pcsk1n |
proprotein convertase subtilisin/kexin type 1 inhibitor |
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ISO |
|
RGD |
PMID:14746899 |
RGD:1642360 |
NCBI chr X:14,580,036...14,583,478
Ensembl chr X:14,580,038...14,583,566
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G |
Pde2a |
phosphodiesterase 2A |
treatment |
ISO |
|
RGD |
PMID:22771768 |
RGD:10449025 |
NCBI chr 1:155,823,590...155,915,434
Ensembl chr 1:155,813,180...155,915,434
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G |
Pdgfb |
platelet derived growth factor subunit B |
|
ISO |
protein:increased expression:plasma: |
RGD |
PMID:22279551 |
RGD:10449445 |
NCBI chr 7:111,539,444...111,557,984
Ensembl chr 7:111,540,345...111,557,984
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G |
Pebp1 |
phosphatidylethanolamine binding protein 1 |
onset |
ISO |
mRNA:decreased expression:hippocampus |
RGD |
PMID:15941609 PMID:11853019 PMID:7770119 PMID:10210891 |
RGD:2302869, RGD:2302863, RGD:2302735, RGD:2302864 |
NCBI chr12:39,302,864...39,307,064
Ensembl chr12:39,302,840...39,307,862
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G |
Pgrmc1 |
progesterone receptor membrane component 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25390692 |
|
NCBI chr X:115,832,865...115,841,060
Ensembl chr X:115,832,884...115,888,682
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G |
Phactr2 |
phosphatase and actin regulator 2 |
|
ISO |
mRNA: splice variants |
RGD |
PMID:20590401 |
RGD:6483097 |
NCBI chr 1:7,591,254...7,860,431
Ensembl chr 1:7,597,927...7,860,289
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G |
Picalm |
phosphatidylinositol binding clathrin assembly protein |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19734902 PMID:21460841 |
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NCBI chr 1:144,056,415...144,138,045
Ensembl chr 1:144,056,721...144,137,557
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G |
Pik3cg |
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma |
|
ISO |
|
RGD |
PMID:20025958 |
RGD:6482689 |
NCBI chr 6:48,766,778...48,802,098
Ensembl chr 6:48,766,864...48,802,043
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G |
Pik3r1 |
phosphoinositide-3-kinase regulatory subunit 1 |
onset |
ISO |
DNA:polymorphism: :p.M326I (human) |
RGD |
PMID:12185156 |
RGD:1625215 |
NCBI chr 2:32,878,942...32,963,668
Ensembl chr 2:32,882,032...32,963,631
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G |
Pilra |
paired immunoglobin-like type 2 receptor alpha |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:33589840 |
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NCBI chr12:17,787,169...17,798,149
Ensembl chr12:17,787,127...17,798,094
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G |
Pin1 |
peptidylprolyl cis/trans isomerase, NIMA-interacting 1 |
|
ISS |
OMIM:104300 | OMIM:502500 | OMIM:604154 | OMIM:608907 |
MouseDO |
|
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NCBI chr 8:19,189,408...19,200,785
Ensembl chr 8:19,189,373...19,200,785
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G |
Plau |
plasminogen activator, urokinase |
no_association |
ISO ISS |
ClinVar Annotator: match by term: Alzheimer disease, late-onset, susceptibility to CTD Direct Evidence: marker/mechanism DNA:SNPs: :multiple mRNA:increased expression:brain |
MouseDO ClinVar CTD RGD |
PMID:12898287 PMID:15615772 PMID:15616835 PMID:16341549 PMID:28492532 PMID:21860091 PMID:18076107 PMID:19889475 PMID:21790972 More...
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RGD:6483793, RGD:6484115, RGD:6483807, RGD:6483794 |
NCBI chr15:3,456,230...3,462,732
Ensembl chr15:3,456,232...3,462,775
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G |
Plcb1 |
phospholipase C beta 1 |
|
ISS ISO |
OMIM:104300 | OMIM:502500 | OMIM:604154 | OMIM:608907 |
MouseDO RGD |
PMID:8534418 |
RGD:13825140 |
NCBI chr 3:122,059,988...122,772,896
Ensembl chr 3:122,060,031...122,772,869
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G |
Plcd1 |
phospholipase C, delta 1 |
|
ISO |
ClinVar Annotator: match by term: Alzheimer disease, early onset |
ClinVar RGD |
PMID:25741868 PMID:8534418 |
RGD:13825140 |
NCBI chr 8:118,795,196...118,818,186
Ensembl chr 8:118,795,201...118,818,186
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G |
Plcg1 |
phospholipase C, gamma 1 |
|
ISO |
|
RGD |
PMID:8534418 |
RGD:13825140 |
NCBI chr 3:149,385,587...149,416,330
Ensembl chr 3:149,385,587...149,416,330
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G |
Plcg2 |
phospholipase C, gamma 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28714976 |
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NCBI chr19:45,547,416...45,683,930
Ensembl chr19:45,547,416...45,683,930
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G |
Pnmt |
phenylethanolamine-N-methyltransferase |
onset |
ISO |
DNA:snps:5' utr:g.-390G>A, g.-184G>A rs876493 (human) |
RGD |
PMID:11378842 |
RGD:5130171 |
NCBI chr10:83,383,019...83,386,557
Ensembl chr10:83,384,923...83,386,556
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G |
Pon1 |
paraoxonase 1 |
|
ISO |
DNA:polymorphisms:multiple SNPs (human) |
RGD |
PMID:16319130 |
RGD:5509926 |
NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360
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G |
Pon2 |
paraoxonase 2 |
|
ISO |
DNA:missense mutation:cds:p.C311S (human) DNA:SNPs:multiple |
RGD |
PMID:11803456 PMID:16319130 |
RGD:1580219, RGD:5509926 |
NCBI chr 4:33,389,702...33,425,186
Ensembl chr 4:33,389,714...33,425,248
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G |
Pon3 |
paraoxonase 3 |
|
ISO |
DNA:polymorphisms:multiple SNPs (human) |
RGD |
PMID:16319130 |
RGD:5509926 |
NCBI chr 4:33,356,983...33,383,681
Ensembl chr 4:33,349,168...33,383,855
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G |
Poted |
POTE ankyrin domain family member D |
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ISO |
ClinVar Annotator: match by term: Alzheimer disease |
ClinVar |
PMID:16369530 PMID:16921174 PMID:24691562 |
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NCBI chr17:57,942,124...57,975,149
Ensembl chr17:57,942,162...57,975,654
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G |
Ppara |
peroxisome proliferator activated receptor alpha |
no_association |
ISO |
DNA:SNP:CDS:rs1800206, p.L162V (human) No association found for any polymorphisms of PPARA, including rs1800206 (human) |
RGD |
PMID:12938026 PMID:17850927 |
RGD:5561899, RGD:5561928 |
NCBI chr 7:116,832,405...116,900,878
Ensembl chr 7:116,832,756...116,895,346
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|
G |
Pparg |
peroxisome proliferator-activated receptor gamma |
no_association susceptibility |
ISO |
DNA:SNPs: :multiple (human) CTD Direct Evidence: marker/mechanism DNA:SNP:cds:p.P12A(human) |
CTD RGD |
PMID:15993441 PMID:16407166 PMID:30328325 PMID:18573313 PMID:17440948 |
RGD:2301852, RGD:2311642 |
NCBI chr 4:148,423,102...148,548,471
Ensembl chr 4:148,423,194...148,548,468
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G |
Ppargc1a |
PPARG coactivator 1 alpha |
disease_progression |
ISO IDA |
mRNA, protein:decreased expression:hippocampal formation (human) |
RGD |
PMID:22540007 PMID:22510382 PMID:19273754 |
RGD:6484260, RGD:7242180, RGD:7242017 |
NCBI chr14:58,860,752...59,516,525
Ensembl chr14:58,861,144...59,512,656
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G |
Ppp1r9b |
protein phosphatase 1, regulatory subunit 9B |
severity |
ISO |
protein:decreased expression:cerebral cortex (mouse) protein:decreased expression:brain, synaptosome (human) |
RGD |
PMID:23764848 PMID:23764848 |
RGD:10043802, RGD:10043802 |
NCBI chr10:79,938,055...79,954,085
Ensembl chr10:79,938,066...79,954,083
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G |
Ppp2r2b |
protein phosphatase 2, regulatory subunit B, beta |
|
ISO |
DNA:repeat |
RGD |
PMID:21029765 |
RGD:5686295 |
NCBI chr18:34,653,716...35,080,889
Ensembl chr18:34,653,721...35,081,025
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G |
Ppp3r1 |
protein phosphatase 3, regulatory subunit B, alpha |
disease_progression |
ISO |
DNA:SNP: :rs1868402 (human) |
RGD |
PMID:23727081 PMID:21223993 |
RGD:13830878, RGD:13830879 |
NCBI chr14:91,556,743...91,606,391
Ensembl chr14:91,604,121...91,606,907
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G |
Prkcb |
protein kinase C, beta |
|
ISO |
|
RGD |
PMID:8534418 |
RGD:13825140 |
NCBI chr 1:176,832,173...177,163,539
Ensembl chr 1:176,832,226...177,163,536
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G |
Prkn |
parkin RBR E3 ubiquitin protein ligase |
treatment |
ISO |
protein:increased expression:vessel,astrocyte: |
RGD |
PMID:24105468 PMID:19716418 |
RGD:10412735, RGD:10412736 |
NCBI chr 1:48,688,651...49,882,520
Ensembl chr 1:48,690,556...49,882,555
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G |
Prnp |
prion protein |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Alzheimer disease, early-onset, susceptibility to |
CTD ClinVar |
PMID:1353341 PMID:1677164 PMID:1682813 PMID:1684089 PMID:1971924 PMID:2378641 PMID:2783132 PMID:7908444 PMID:8137139 PMID:9643750 PMID:9748018 PMID:9751723 PMID:9789072 PMID:10437852 PMID:10581230 PMID:10953203 PMID:11488277 PMID:11506406 PMID:11506411 PMID:11749972 PMID:11840201 PMID:12601712 PMID:12867116 PMID:12891686 PMID:14520676 PMID:14562104 PMID:14970845 PMID:15277640 PMID:15539564 PMID:15987701 PMID:16217673 PMID:16315279 PMID:16391566 PMID:16565881 PMID:16969862 PMID:17192785 PMID:18955686 PMID:19923577 PMID:25741868 PMID:28492532 More...
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NCBI chr 3:119,186,073...119,201,513
Ensembl chr 3:119,177,485...119,203,937
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G |
Psen1 |
presenilin 1 |
|
ISO ISS |
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 |
MouseDO ClinVar CTD RGD |
PMID:7596406 PMID:8773614 PMID:9384602 PMID:9452052 PMID:9851443 PMID:9851450 PMID:9915968 PMID:10075646 PMID:10208579 PMID:10643802 PMID:11198283 PMID:11389157 PMID:11524469 PMID:12192622 PMID:12615638 PMID:15003276 PMID:15622541 PMID:16033913 PMID:16216949 PMID:16267640 PMID:16449385 PMID:16651627 PMID:16669732 PMID:16923167 PMID:16952411 PMID:17192785 PMID:17573346 PMID:17854491 PMID:17962197 PMID:18227305 PMID:18350357 PMID:18525293 PMID:18667258 PMID:19111578 PMID:19659892 PMID:20008660 PMID:20194882 PMID:20802216 PMID:21959359 PMID:22507317 PMID:22810102 PMID:22906081 PMID:23638752 PMID:23861362 PMID:23990795 PMID:25333068 PMID:25352456 PMID:25714973 PMID:25741868 PMID:25937274 PMID:26166206 PMID:26194182 PMID:26242991 PMID:26467025 PMID:27117003 PMID:27312774 PMID:27357204 PMID:27535542 PMID:27567873 PMID:27644130 PMID:27777022 PMID:27930341 PMID:28082723 PMID:28350801 PMID:28448946 PMID:28492532 PMID:28554858 PMID:28749476 PMID:29142009 PMID:30090657 PMID:30279455 PMID:31467635 PMID:32588886 PMID:33769986 PMID:34603009 PMID:7596406 PMID:29641600 More...
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RGD:1302519, RGD:13782044 |
NCBI chr 6:103,323,052...103,375,088
Ensembl chr 6:103,323,120...103,371,650
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G |
Psen2 |
presenilin 2 |
severity |
ISO |
DNA:missense mutation:cds:p.N141I (human) ClinVar Annotator: match by term: Alzheimer disease | ClinVar Annotator: match by term: Alzheimer's disease | ClinVar Annotator: match by term: Early-Onset Familial Alzheimer Disease CTD Direct Evidence: marker/mechanism DNA:missense mutations:cds:p.N141I, p.M239V (human) |
ClinVar RGD CTD |
PMID:9050898 PMID:9384602 PMID:10976645 PMID:11723295 PMID:12925374 PMID:14623725 PMID:15130954 PMID:15663477 PMID:16474849 PMID:16651627 PMID:17186461 PMID:17345043 PMID:17914065 PMID:18667258 PMID:19768372 PMID:20194882 PMID:21409510 PMID:22221884 PMID:22312439 PMID:22475797 PMID:22503161 PMID:23383383 PMID:23558482 PMID:23861362 PMID:23990795 PMID:24880964 PMID:25104557 PMID:25604855 PMID:25741868 PMID:25937274 PMID:26159191 PMID:26242991 PMID:26410308 PMID:26467025 PMID:26507310 PMID:26836416 PMID:26899768 PMID:28492532 PMID:30045758 PMID:30279455 PMID:31914229 PMID:32032730 PMID:32087291 PMID:32345996 PMID:32917274 PMID:10976645 PMID:9246481 More...
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RGD:9743900, RGD:9743900, RGD:1302522 |
NCBI chr13:91,967,506...91,993,240
Ensembl chr13:91,967,983...91,993,174
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G |
Ptger4 |
prostaglandin E receptor 4 |
|
ISO |
|
RGD |
PMID:22044482 |
RGD:6483525 |
NCBI chr 2:54,330,563...54,347,451
Ensembl chr 2:54,335,424...54,346,670
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G |
Ptgs1 |
prostaglandin-endoperoxide synthase 1 |
|
IMP ISO |
protein:increased expression:cerebral cortex |
RGD |
PMID:21701788 PMID:10560656 PMID:20157512 |
RGD:5688147, RGD:5688249, RGD:5688156 |
NCBI chr 3:19,584,015...19,605,589
Ensembl chr 3:19,584,015...19,605,586
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G |
Ptgs2 |
prostaglandin-endoperoxide synthase 2 |
|
IMP ISO |
mRNA:decreased expression:neocortex, hippocampus |
RGD |
PMID:21701788 PMID:8892355 PMID:9740394 |
RGD:5688147, RGD:5688254, RGD:5688252 |
NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188
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G |
Ptk2b |
protein tyrosine kinase 2 beta |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:33589840 |
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NCBI chr15:40,360,722...40,481,235
Ensembl chr15:40,360,723...40,481,282
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G |
Ptpn5 |
protein tyrosine phosphatase, non-receptor type 5 |
severity |
ISO |
protein:increased expression:prefrontal cortex (human) protein:increased expression:dentate gyrus (mouse) |
RGD |
PMID:20427654 PMID:16237174 PMID:20956308 |
RGD:9835008, RGD:10044037, RGD:9835007 |
NCBI chr 1:97,620,638...97,681,186
Ensembl chr 1:97,620,642...97,679,882
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G |
Pyy |
peptide YY |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11709213 |
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NCBI chr10:87,061,155...87,062,278
Ensembl chr10:87,061,161...87,061,815
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G |
Rbm11 |
RNA binding motif protein 11 |
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ISO |
ClinVar Annotator: match by term: Alzheimer disease |
ClinVar |
PMID:16369530 PMID:16921174 PMID:24691562 |
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NCBI chr11:14,234,851...14,244,092
Ensembl chr11:14,234,890...14,244,090
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G |
Rcan1 |
regulator of calcineurin 1 |
|
ISO |
|
RGD |
PMID:11483593 |
RGD:1580889 |
NCBI chr11:31,622,208...31,702,150
Ensembl chr11:31,622,210...31,702,045
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G |
Reg1a |
regenerating family member 1 alpha |
|
ISO |
mRNA:increased expression:brain (human) |
RGD |
PMID:2394826 |
RGD:9850119 |
NCBI chr 4:110,892,451...110,895,115
Ensembl chr 4:110,892,453...110,895,570
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G |
Reln |
reelin |
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ISO |
protein:increased expression:cerebrospinal fluid (human) protein: increased expression: brain CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:20610758 PMID:12645087 PMID:20025970 |
RGD:729771, RGD:13207521 |
NCBI chr 4:12,736,177...13,162,956
Ensembl chr 4:12,736,130...13,162,211
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G |
RT1-Db1 |
RT1 class II, locus Db1 |
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ISO |
|
RGD |
PMID:21473952 |
RGD:5147563 |
NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
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G |
Runx1 |
RUNX family transcription factor 1 |
|
ISO |
associated with Down Syndrome |
RGD |
PMID:20946940 |
RGD:6482829 |
NCBI chr11:31,839,880...32,074,427
Ensembl chr11:31,843,764...32,074,542
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G |
S100b |
S100 calcium binding protein B |
severity |
ISO IEP |
protein:decreased expression:cerebrospinal fluid |
RGD |
PMID:21080947 PMID:19705461 PMID:20105309 PMID:20953641 |
RGD:5508775, RGD:5508798, RGD:5508787, RGD:5508780 |
NCBI chr20:12,372,866...12,381,619
Ensembl chr20:12,372,881...12,394,743
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G |
Samsn1 |
SAM domain, SH3 domain and nuclear localization signals, 1 |
|
ISO |
ClinVar Annotator: match by term: Alzheimer disease |
ClinVar |
PMID:16369530 PMID:16921174 PMID:24691562 |
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NCBI chr11:14,484,523...14,534,900
Ensembl chr11:14,483,893...14,534,900
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G |
Sell |
selectin L |
severity |
ISO |
protein:decreased expression:plasma |
RGD |
PMID:21484243 |
RGD:5685677 |
NCBI chr13:76,416,969...76,436,444
Ensembl chr13:76,416,915...76,436,456
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G |
Selp |
selectin P |
severity |
ISO |
protein:decreased expression:plasma |
RGD |
PMID:21484243 |
RGD:5685677 |
NCBI chr13:76,476,229...76,511,846
Ensembl chr13:76,476,295...76,511,845
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G |
Serpine2 |
serpin family E member 2 |
|
ISO |
|
RGD |
PMID:2813392 |
RGD:2317937 |
NCBI chr 9:81,124,746...81,188,866
Ensembl chr 9:81,124,804...81,188,826
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G |
Serpinf1 |
serpin family F member 1 |
|
IDA ISO |
protein:increased expression:cerebrospinal fluid, serum (human) |
RGD |
PMID:17073149 PMID:28320113 |
RGD:2312353, RGD:27226702 |
NCBI chr10:60,250,198...60,262,593
Ensembl chr10:60,249,708...60,262,646
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G |
Shc1 |
SHC adaptor protein 1 |
|
ISO |
protein:increased phosphorylation:neuron |
RGD |
PMID:15837797 |
RGD:1643185 |
NCBI chr 2:174,837,937...174,849,538
Ensembl chr 2:174,837,930...174,849,536
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G |
Sirt1 |
sirtuin 1 |
treatment |
ISO |
protein:increased expression:forebrain (mouse) |
RGD |
PMID:17581637 PMID:16751189 |
RGD:2290573, RGD:10047116 |
NCBI chr20:25,307,225...25,329,273
Ensembl chr20:25,306,917...25,329,260
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G |
Sirt3 |
sirtuin 3 |
|
ISO |
mRNA:increased expression:brain |
RGD |
PMID:23139766 |
RGD:9586045 |
NCBI chr 1:195,942,066...195,964,472
Ensembl chr 1:195,942,073...195,964,808
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G |
Slc18a3 |
solute carrier family 18 member A3 |
|
ISO |
mRNA, protein:decreased expression:frontal association cortex mRNA:decreased expression:cerebral cortex |
RGD |
PMID:21743130 PMID:21333939 |
RGD:5686430, RGD:5686673 |
NCBI chr16:7,713,630...7,716,491
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G |
Slc25a4 |
solute carrier family 25 member 4 |
|
ISO |
|
RGD |
PMID:21958963 |
RGD:9681463 |
NCBI chr16:46,072,935...46,076,730
Ensembl chr16:46,072,939...46,076,733
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G |
Slc2a1 |
solute carrier family 2 member 1 |
|
ISO |
|
RGD |
PMID:8179300 |
RGD:2313620 |
NCBI chr 5:132,717,196...132,745,416
Ensembl chr 5:132,717,196...132,745,416
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G |
Slc2a3 |
solute carrier family 2 member 3 |
|
ISO |
|
RGD |
PMID:8179300 |
RGD:2313620 |
NCBI chr 4:155,960,944...156,026,000
Ensembl chr 4:155,960,946...156,025,472
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G |
Slc2a4 |
solute carrier family 2 member 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24055495 |
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NCBI chr10:54,666,015...54,671,581
Ensembl chr10:54,666,015...54,671,565
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G |
Slc30a4 |
solute carrier family 30 member 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16580781 |
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NCBI chr 3:109,753,270...109,775,306
Ensembl chr 3:109,753,273...109,775,306
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G |
Slc30a6 |
solute carrier family 30 member 6 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16580781 |
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NCBI chr 6:21,020,931...21,050,785
Ensembl chr 6:21,020,931...21,050,785
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G |
Slc8a1 |
solute carrier family 8 member A1 |
|
ISO |
protein:altered expression:synaptosome: |
RGD |
PMID:21382638 |
RGD:13628395 |
NCBI chr 6:13,194,609...13,547,369
Ensembl chr 6:13,194,662...13,535,628
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G |
Slc8a2 |
solute carrier family 8 member A2 |
|
ISO |
protein:altered expression:synaptosome: |
RGD |
PMID:21382638 |
RGD:13628395 |
NCBI chr 1:76,816,583...76,852,928
Ensembl chr 1:76,808,725...76,847,072
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G |
Slc8a3 |
solute carrier family 8 member A3 |
|
ISO |
protein:altered expression:parietal cortex, synaptosome: |
RGD |
PMID:21382638 |
RGD:13628395 |
NCBI chr 6:100,874,359...101,007,989
Ensembl chr 6:100,874,369...101,007,508
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G |
Snap91 |
synaptosome associated protein 91 |
|
ISO |
protein:decreased expression:dentate gyrus molecular layer,hippocampus,entorhinal, tempocampal corteces: denntate gyrus, hippocampus, entorhinal cortex |
RGD |
PMID:20847448 PMID:20847448 |
RGD:13506238, RGD:13506238 |
NCBI chr 8:87,738,056...87,852,690
Ensembl chr 8:87,738,824...87,852,367
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G |
Snca |
synuclein alpha |
|
ISO |
human gene in a mouse model protein:increased expression:cerebrospinal fluid |
RGD |
PMID:11572944 PMID:18577885 |
RGD:1302528, RGD:6478792 |
NCBI chr 4:89,696,420...89,797,240
Ensembl chr 4:89,696,420...89,796,262
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G |
Sncb |
synuclein, beta |
|
ISO |
mRNA:decreased expression:brain |
RGD |
PMID:11578596 |
RGD:6480194 |
NCBI chr17:9,846,802...9,855,013
Ensembl chr17:9,846,802...9,855,012
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G |
Sncg |
synuclein, gamma |
|
ISO |
protein:increased expression:cerebrospinal fluid |
RGD |
PMID:18577885 |
RGD:6478792 |
NCBI chr16:9,700,513...9,705,751
Ensembl chr16:9,700,514...9,705,368
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G |
Snrnp70 |
small nuclear ribonucleoprotein U1 subunit 70 |
|
ISO |
protein:increased expression:cerebral cortex (human) |
RGD |
PMID:24023061 |
RGD:10448959 |
NCBI chr 1:95,856,038...95,876,434
Ensembl chr 1:95,856,036...95,876,392
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G |
Snrpa |
small nuclear ribonucleoprotein polypeptide A |
|
ISO |
protein:increased expression:cerebral cortex (human) |
RGD |
PMID:24023061 |
RGD:10448959 |
NCBI chr 1:82,481,770...82,490,540
Ensembl chr 1:82,481,770...82,490,538
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G |
Sod1 |
superoxide dismutase 1 |
|
ISO IEP |
mRNA:altered expression:hippocampus, hypothalamus (rat) protein:decreased expression:frontal lobe (human) |
RGD |
PMID:22072713 PMID:20027333 PMID:22072713 |
RGD:8655610, RGD:8657017, RGD:8655610 |
NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249
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G |
Sod2 |
superoxide dismutase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:19374891 PMID:16369462 |
RGD:1579972 |
NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
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G |
Sorl1 |
sortilin related receptor 1 |
|
ISO |
|
RGD |
PMID:15313836 |
RGD:1581303 |
NCBI chr 8:42,341,704...42,504,435
Ensembl chr 8:42,341,704...42,504,513
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G |
Spint1 |
serine peptidase inhibitor, Kunitz type 1 |
|
ISO |
protein:decreased expression:parietal cortex (human) |
RGD |
PMID:9743567 |
RGD:1581317 |
NCBI chr 3:106,231,082...106,244,121
Ensembl chr 3:106,231,444...106,244,119
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G |
Spred2 |
sprouty-related, EVH1 domain containing 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:33589840 |
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NCBI chr14:94,149,210...94,250,787
Ensembl chr14:94,148,837...94,249,162
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G |
Stat3 |
signal transducer and activator of transcription 3 |
|
ISO |
protein:decreased tyrosine phosphorylation:dentate gyrus protein:decreased tyrosine phosphorylation:dentate gyrus, CA1 field of hippocampus |
RGD |
PMID:18813209 PMID:18813209 |
RGD:10403051, RGD:10403051 |
NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057
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G |
Stox1 |
storkhead box 1 |
severity |
ISO |
protein:increased expression:CA4 field of hippocampus (human) |
RGD |
PMID:20110611 |
RGD:11554028 |
NCBI chr20:30,598,284...30,666,371
Ensembl chr20:30,598,168...30,666,939
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G |
Syp |
synaptophysin |
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ISO IEP |
protein:decreased expression:dentate gyrus molecular layer,hippocampus,entorhinal, tempocampal corteces: mRNA,protein:decreased expression:hippocampus, temporal cortex denntate gyrus, hippocampus, entorhinal cortex |
RGD |
PMID:20847448 PMID:20847448 PMID:20847448 |
RGD:13506238, RGD:13506238, RGD:13506238 |
NCBI chr X:14,849,444...14,864,553
Ensembl chr X:14,849,444...14,864,745
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G |
Tap2 |
transporter 2, ATP binding cassette subfamily B member |
susceptibility |
ISO |
DNA:SNP: :(rs241448)(human) |
RGD |
PMID:16595160 |
RGD:6482265 |
NCBI chr20:4,636,347...4,650,387
Ensembl chr20:4,636,357...4,650,407
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G |
Tardbp |
TAR DNA binding protein |
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ISO |
protein:increased expression, phosphorylation:motor cortex protein:increased expression:brain |
RGD |
PMID:21376022 PMID:21070634 |
RGD:5687139, RGD:5687178 |
NCBI chr 5:159,050,518...159,062,218
Ensembl chr 5:159,051,799...159,062,055
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G |
Tbp |
TATA box binding protein |
|
ISO |
protein:increased expression:hippocampus, entorhinal cortex (human) |
RGD |
PMID:15193429 |
RGD:5684338 |
NCBI chr 1:56,463,330...56,480,430
Ensembl chr 1:56,463,618...56,510,016
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G |
Tdo2 |
tryptophan 2,3-dioxygenase |
treatment |
ISO |
|
RGD |
PMID:27190010 |
RGD:13601984 |
NCBI chr 2:167,269,581...167,287,511
Ensembl chr 2:167,269,579...167,287,511
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G |
Tf |
transferrin |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Transferrin variant C1/C2 |
CTD ClinVar |
PMID:9272172 PMID:15060098 PMID:17192785 PMID:20029940 PMID:25741868 PMID:28492532 More...
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NCBI chr 8:103,789,780...103,816,487
Ensembl chr 8:103,767,995...103,816,511
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G |
Tfam |
transcription factor A, mitochondrial |
susceptibility |
ISO |
DNA:SNP: :rs1937 (human) CTD Direct Evidence: marker/mechanism DNA:SNP:intron:IVS4+113A>G (rs2306604) (human) |
CTD RGD |
PMID:17192785 PMID:21799244 PMID:17537576 |
RGD:6767575, RGD:6771185 |
NCBI chr20:17,356,243...17,368,293
Ensembl chr20:17,356,197...17,368,292
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G |
Thbd |
thrombomodulin |
|
ISO |
|
RGD |
PMID:15760641 |
RGD:5685018 |
NCBI chr 3:135,863,366...135,867,018
Ensembl chr 3:135,862,835...135,867,193
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G |
Timp2 |
TIMP metallopeptidase inhibitor 2 |
|
ISO |
|
RGD |
PMID:12614934 |
RGD:1580169 |
NCBI chr10:103,541,199...103,590,611
Ensembl chr10:103,531,505...103,590,611
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G |
Tlr4 |
toll-like receptor 4 |
|
ISO |
|
RGD |
PMID:16157451 |
RGD:1580680 |
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
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G |
Tmed10 |
transmembrane p24 trafficking protein 10 |
|
ISO |
protein:decreased expression:brain cortex (human) |
RGD |
PMID:18652896 |
RGD:2317276 |
NCBI chr 6:104,991,843...105,026,705
Ensembl chr 6:104,991,838...105,026,753
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G |
Tmprss15 |
transmembrane serine protease 15 |
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ISO |
ClinVar Annotator: match by term: Alzheimer disease |
ClinVar |
PMID:16369530 PMID:16921174 PMID:24691562 |
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NCBI chr11:17,677,741...17,802,255
Ensembl chr11:17,677,741...17,802,255
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G |
Tnf |
tumor necrosis factor |
no_association onset susceptibility |
ISO |
DNA:polymorphism:promoter:multiple(human) DNA:polymorphism:promoter:-308G>A(human) protein:decreased expression:brain: DNA:haploltype:promoter:-863A>C,-308G>A(human) protein:increased secretion:serum: CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Alzheimer disease, protection against |
CTD ClinVar RGD |
PMID:10400991 PMID:16908746 PMID:17192785 PMID:12962917 PMID:18834925 PMID:15468911 PMID:9772027 PMID:16516271 PMID:16908746 PMID:18992723 PMID:18992723 More...
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RGD:1580320, RGD:13825257, RGD:13825256, RGD:13825255, RGD:13825253, RGD:13825250, RGD:13825248, RGD:13825248 |
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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G |
Tnfrsf1a |
TNF receptor superfamily member 1A |
no_association |
ISO |
protein:increased expression:brain: protein:increased expression:cerebrospinal fluid: |
RGD |
PMID:20110607 PMID:21978728 PMID:17724122 PMID:17267158 |
RGD:13825249, RGD:13825268, RGD:13825267, RGD:13825266 |
NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591
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G |
Tnfrsf1b |
TNF receptor superfamily member 1B |
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ISO |
protein:decreased expression:brain: protein:increased expression:cerebrospinal fluid: |
RGD |
PMID:20110607 PMID:21978728 |
RGD:13825249, RGD:13825268 |
NCBI chr 5:157,070,642...157,104,216
Ensembl chr 5:157,070,642...157,104,206
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G |
Tomm40 |
translocase of outer mitochondrial membrane 40 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27023435 PMID:29107063 PMID:30319691 PMID:30320580 |
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NCBI chr 1:79,358,781...79,370,882
Ensembl chr 1:79,358,786...79,370,915
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G |
Tp53 |
tumor protein p53 |
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ISO |
|
RGD |
PMID:17581637 |
RGD:2290573 |
NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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G |
Tph1 |
tryptophan hydroxylase 1 |
|
ISO |
|
RGD |
PMID:15182943 |
RGD:1580467 |
NCBI chr 1:97,157,375...97,178,415
Ensembl chr 1:97,157,409...97,178,344
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G |
Tpi1 |
triosephosphate isomerase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19374891 |
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NCBI chr 4:157,615,283...157,618,813
Ensembl chr 4:157,615,386...157,619,541
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G |
Tpp1 |
tripeptidyl peptidase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10320038 |
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NCBI chr 1:160,097,984...160,104,108
Ensembl chr 1:160,096,833...160,104,129
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G |
Trem2 |
triggering receptor expressed on myeloid cells 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24663666 PMID:28714976 |
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NCBI chr 9:12,647,605...12,654,190
Ensembl chr 9:12,647,259...12,654,170
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G |
Tsc2 |
TSC complex subunit 2 |
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ISO |
|
RGD |
PMID:16341938 |
RGD:1580518 |
NCBI chr10:13,621,135...13,655,773
Ensembl chr10:13,621,136...13,655,951
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G |
Tspan14 |
tetraspanin 14 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:33589840 |
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NCBI chr16:16,784,242...16,841,368
Ensembl chr16:16,783,234...16,841,400
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G |
Ttr |
transthyretin |
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ISO |
|
RGD |
PMID:16552785 |
RGD:1580525 |
NCBI chr18:11,941,791...11,951,008
Ensembl chr18:11,943,789...11,951,008
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G |
Uchl1 |
ubiquitin C-terminal hydrolase L1 |
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ISO |
|
RGD |
PMID:14722078 |
RGD:1580538 |
NCBI chr14:41,485,031...41,495,590
Ensembl chr14:41,485,031...41,495,590
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G |
Ucp1 |
uncoupling protein 1 |
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ISO |
protein:decreased expression:plasma (human) |
RGD |
PMID:24498895 |
RGD:10045648 |
NCBI chr19:24,808,782...24,816,853
Ensembl chr19:24,808,783...24,816,852
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G |
Uqcrc1 |
ubiquinol-cytochrome c reductase core protein 1 |
|
ISO |
DNA:hypermethylation:promoter: protein:decreased expression:temporal cortex |
RGD |
PMID:26943237 PMID:11130185 |
RGD:11572212, RGD:13831335 |
NCBI chr 8:109,589,735...109,601,481
Ensembl chr 8:109,589,706...109,601,480
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G |
Usp25 |
ubiquitin specific peptidase 25 |
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ISO |
ClinVar Annotator: match by term: Alzheimer disease |
ClinVar |
PMID:16369530 PMID:16921174 PMID:24691562 |
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NCBI chr11:15,603,654...15,711,356
Ensembl chr11:15,603,881...15,711,348
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G |
Vcp |
valosin-containing protein |
|
ISO |
ClinVar Annotator: match by term: Alzheimer disease |
ClinVar |
PMID:30279455 |
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NCBI chr 5:57,210,167...57,229,571
Ensembl chr 5:57,210,168...57,229,571
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G |
Vegfa |
vascular endothelial growth factor A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:15732116 PMID:15732116 |
RGD:1580571 |
NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
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G |
Vim |
vimentin |
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ISO |
protein:increased expression:brain |
RGD |
PMID:19728994 PMID:19728994 |
RGD:6480519, RGD:6480519 |
NCBI chr17:76,668,701...76,677,186
Ensembl chr17:76,668,647...76,677,187
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G |
Vldlr |
very low density lipoprotein receptor |
|
ISO |
DNA:repeat |
RGD |
PMID:7550352 |
RGD:737739 |
NCBI chr 1:224,813,539...224,850,400
Ensembl chr 1:224,814,377...224,845,920
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G |
Vps13c |
vacuolar protein sorting 13 homolog C |
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ISO |
ClinVar Annotator: match by term: Alzheimer disease, early onset |
ClinVar |
PMID:25741868 |
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NCBI chr 8:68,478,366...68,651,893
Ensembl chr 8:68,478,395...68,651,895
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G |
Vsnl1 |
visinin-like 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25806004 |
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NCBI chr 6:34,038,641...34,159,479
Ensembl chr 6:34,038,642...34,159,479
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G |
Wt1 |
WT1 transcription factor |
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ISO |
|
RGD |
PMID:12914969 |
RGD:1580623 |
NCBI chr 3:91,566,540...91,613,653
Ensembl chr 3:91,567,001...91,613,643
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G |
Wwox |
WW domain-containing oxidoreductase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30820047 |
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NCBI chr19:42,432,141...43,360,278
Ensembl chr19:42,432,152...43,359,391
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G |
Xrn1 |
5'-3' exoribonuclease 1 |
susceptibility |
ISO |
DNA:snp:intron:c.1883+365T>C (rs1351965) (human) |
RGD |
PMID:22984654 |
RGD:11528589 |
NCBI chr 8:96,527,871...96,637,385
Ensembl chr 8:96,528,195...96,632,739
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G |
App |
amyloid beta precursor protein |
|
ISO |
ClinVar Annotator: match by term: APP POLYMORPHISM | ClinVar Annotator: match by term: APP-related condition | ClinVar Annotator: match by term: Alzheimer disease type 1 |
OMIM ClinVar |
PMID:1303172 PMID:1303239 PMID:1303275 PMID:1415269 PMID:1520398 PMID:1584464 PMID:1634237 PMID:1671712 PMID:1674311 PMID:1678057 PMID:1678058 PMID:1679288 PMID:1908231 PMID:1925564 PMID:1944558 PMID:7611715 PMID:7686976 PMID:7806491 PMID:7845465 PMID:8154870 PMID:8191290 PMID:8290965 PMID:8410047 PMID:8461968 PMID:8499923 PMID:8513318 PMID:8577393 PMID:8644866 PMID:8649577 PMID:8650548 PMID:8863158 PMID:8886002 PMID:9328472 PMID:9536098 PMID:9754958 PMID:9848098 PMID:10097173 PMID:10441572 PMID:10611368 PMID:10631141 PMID:10821838 PMID:10867787 PMID:11004129 PMID:11063718 PMID:11311152 PMID:11487570 PMID:11528419 PMID:11568920 PMID:11910111 PMID:11978821 PMID:12034808 PMID:12552037 PMID:12707272 PMID:14623725 PMID:14769392 PMID:15365148 PMID:15488330 PMID:15502844 PMID:15668448 PMID:15776278 PMID:16033913 PMID:16505331 PMID:16931535 PMID:17170111 PMID:17493013 PMID:17576681 PMID:18187157 PMID:18234110 PMID:18413473 PMID:18437002 PMID:19281847 PMID:19363265 PMID:19950418 PMID:20005601 PMID:20063202 PMID:20301414 PMID:20452980 PMID:20452985 PMID:20523046 PMID:20634584 PMID:21210284 PMID:21777674 PMID:21980910 PMID:22312439 PMID:22503161 PMID:22702962 PMID:23143229 PMID:23224319 PMID:23380992 PMID:23515184 PMID:24033266 PMID:24278680 PMID:24390130 PMID:24524897 PMID:24650794 PMID:24677022 PMID:24694184 PMID:24880964 PMID:24949887 PMID:25053581 PMID:25104557 PMID:25137638 PMID:25138979 PMID:25174650 PMID:25604855 PMID:25703165 PMID:25741868 PMID:25948718 PMID:26242991 PMID:26402770 PMID:26444762 PMID:26467025 PMID:26803359 PMID:26888304 PMID:27312774 PMID:27777022 PMID:27838006 PMID:28304299 PMID:28350801 PMID:28492532 PMID:29263818 PMID:29459625 PMID:29770843 PMID:29859640 PMID:30045758 PMID:30279455 PMID:31011484 PMID:31719132 PMID:32087291 PMID:32908482 PMID:33268848 PMID:33445953 More...
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NCBI chr11:24,019,774...24,236,584
Ensembl chr11:24,019,778...24,236,561
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G |
Hfe |
homeostatic iron regulator |
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ISO |
ClinVar Annotator: match by term: Alzheimer disease type 1 |
ClinVar |
PMID:678784 PMID:8696333 PMID:8896549 PMID:8896550 PMID:8931958 PMID:9024376 PMID:9138148 PMID:9162021 PMID:9211748 PMID:9321765 PMID:9326341 PMID:9328324 PMID:9341868 PMID:9356458 PMID:9439654 PMID:9462220 PMID:9482831 PMID:9585606 PMID:9851896 PMID:9851897 PMID:10194428 PMID:10381492 PMID:10401000 PMID:10431233 PMID:10575540 PMID:10660483 PMID:11040194 PMID:11336458 PMID:11532995 PMID:11812557 PMID:11903354 PMID:12241803 PMID:12377814 PMID:12429850 PMID:12436244 PMID:12542741 PMID:12693884 PMID:12707220 PMID:12915468 PMID:14618419 PMID:14729817 PMID:15060098 PMID:15070663 PMID:15254010 PMID:15280838 PMID:15347835 PMID:15858186 PMID:16132052 PMID:16199547 PMID:16879202 PMID:17389307 PMID:17450498 PMID:17828789 PMID:18199861 PMID:18499578 PMID:18504828 PMID:18566337 PMID:19084217 PMID:19159930 PMID:19429178 PMID:19444013 PMID:19554541 PMID:19681031 PMID:20107990 PMID:20301613 PMID:20471131 PMID:21243428 PMID:21452290 PMID:22531912 PMID:23178241 PMID:23953397 PMID:24033266 PMID:24604426 PMID:25457201 PMID:25728773 PMID:25741868 PMID:25741869 PMID:25850353 PMID:26153218 PMID:26365338 PMID:27124787 PMID:27173269 PMID:27518069 PMID:27659401 PMID:27890643 PMID:28492532 PMID:29404719 PMID:31061747 PMID:31335359 PMID:31436889 PMID:31980526 PMID:32153640 PMID:37260121 More...
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NCBI chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502
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G |
Mpo |
myeloperoxidase |
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ISO |
ClinVar Annotator: match by term: Alzheimer disease type 1 |
ClinVar OMIM |
PMID:6260268 PMID:7904599 PMID:8142659 PMID:8621627 PMID:9468285 PMID:9507022 PMID:9766845 PMID:15108282 PMID:17384005 PMID:18273043 PMID:24033266 PMID:25741868 PMID:26764160 PMID:26822949 PMID:27013444 PMID:30487145 PMID:31589614 PMID:31980526 PMID:32531373 PMID:32758447 PMID:32758448 PMID:34426522 More...
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NCBI chr10:72,594,883...72,608,862
Ensembl chr10:72,594,661...72,604,819
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G |
Nos3 |
nitric oxide synthase 3 |
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ISO |
ClinVar Annotator: match by term: Alzheimer disease type 1 |
ClinVar |
PMID:25741868 |
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NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
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G |
Plau |
plasminogen activator, urokinase |
susceptibility |
ISO |
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OMIM |
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NCBI chr15:3,456,230...3,462,732
Ensembl chr15:3,456,232...3,462,775
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G |
Adam10 |
ADAM metallopeptidase domain 10 |
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ISO |
ClinVar Annotator: match by term: Alzheimer disease 18 |
ClinVar OMIM |
PMID:19608551 PMID:24055016 |
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NCBI chr 8:71,346,008...71,477,889
Ensembl chr 8:71,345,837...71,477,889
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G |
Pld3 |
phospholipase D family, member 3 |
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ISO |
ClinVar Annotator: match by term: Alzheimer disease 19 |
ClinVar |
PMID:24336208 PMID:25832408 PMID:25832410 PMID:25832411 PMID:25832412 PMID:28492532 More...
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NCBI chr 1:82,821,863...82,844,280
Ensembl chr 1:82,821,875...82,844,072
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G |
Apoe |
apolipoprotein E |
|
ISO |
CTD Direct Evidence: marker/mechanism 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 OMIM ClinVar |
PMID:2987927 PMID:3353383 PMID:3922972 PMID:7263700 PMID:8294487 PMID:8346443 PMID:8350998 PMID:8488843 PMID:8618665 PMID:8644717 PMID:9279208 PMID:9343467 PMID:9360638 PMID:9932938 PMID:10213549 PMID:10799751 PMID:11835377 PMID:11940689 PMID:11940706 PMID:14741101 PMID:15048896 PMID:15146461 PMID:15184602 PMID:15326261 PMID:15557508 PMID:15668424 PMID:18338393 PMID:18979180 PMID:18987351 PMID:19605830 PMID:19846850 PMID:21742527 PMID:22381401 PMID:22949395 PMID:23060451 PMID:23296339 PMID:23571587 PMID:24033266 PMID:24126160 PMID:25741868 PMID:27260402 PMID:28492532 PMID:29842932 PMID:32376954 PMID:32808727 PMID:35120450 PMID:35628605 PMID:35639372 More...
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NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
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G |
Apoe |
apolipoprotein E |
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ISO |
ClinVar Annotator: match by term: ALZHEIMER DISEASE, FAMILIAL, 3 | ClinVar Annotator: match by term: Alzheimer disease 3 |
ClinVar OMIM |
PMID:8488843 PMID:9279208 PMID:9360638 PMID:10432380 PMID:10529625 PMID:18077821 PMID:22949395 PMID:24126160 PMID:25741868 PMID:28492532 PMID:32808727 PMID:35120450 PMID:35628605 PMID:35639372 More...
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NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
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G |
Kif5c |
kinesin family member 5C |
|
ISO |
protein:decreased expression:cerebellum (human) |
RGD |
PMID:24569455 |
RGD:12859086 |
NCBI chr 3:34,032,082...34,185,597
Ensembl chr 3:34,032,105...34,182,413
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G |
Lrrk2 |
leucine-rich repeat kinase 2 |
|
ISO |
ClinVar Annotator: match by term: Early onset Alzheimer disease with behavioral disturbance |
ClinVar |
PMID:18412265 PMID:18688798 PMID:18716801 PMID:18781329 PMID:19699188 PMID:20301387 PMID:20642453 PMID:21885347 PMID:25243190 PMID:25741868 PMID:26930193 PMID:28492532 More...
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NCBI chr 7:122,826,696...122,987,711
Ensembl chr 7:122,826,696...122,987,703
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G |
Psen1 |
presenilin 1 |
|
ISO ISS |
ClinVar Annotator: match by term: ALZHEIMER DISEASE, FAMILIAL, 3 | ClinVar Annotator: match by term: Alzheimer disease 3 | ClinVar Annotator: match by term: Early onset Alzheimer disease with behavioral disturbance OMIM:607822 |
OMIM ClinVar MouseDO |
PMID:1985297 PMID:2025423 PMID:2793034 PMID:7550356 PMID:7581374 PMID:7585193 PMID:7596406 PMID:7623584 PMID:7623585 PMID:7651536 PMID:7824141 PMID:7942850 PMID:8538334 PMID:8634711 PMID:8634712 PMID:8733303 PMID:8733749 PMID:8755489 PMID:8773614 PMID:8837617 PMID:8905716 PMID:8910898 PMID:8931704 PMID:8962160 PMID:8986743 PMID:9007097 PMID:9007311 PMID:9051814 PMID:9052708 PMID:9126060 PMID:9172170 PMID:9189043 PMID:9196071 PMID:9225696 PMID:9292884 PMID:9384602 PMID:9436726 PMID:9437013 PMID:9443865 PMID:9450754 PMID:9452052 PMID:9502232 PMID:9507958 PMID:9521418 PMID:9521423 PMID:9536098 PMID:9540849 PMID:9544835 PMID:9546792 PMID:9680315 PMID:9712537 PMID:9728730 PMID:9804121 PMID:9811326 PMID:9831473 PMID:9833068 PMID:9851443 PMID:9851450 PMID:9915968 PMID:10075646 PMID:10090481 PMID:10327206 PMID:10366599 PMID:10401002 PMID:10430510 PMID:10439444 PMID:10441572 PMID:10447269 PMID:10448055 PMID:10468510 PMID:10502791 PMID:10525535 PMID:10548420 PMID:10549825 PMID:10594046 PMID:10631141 PMID:10643802 PMID:10720282 PMID:10754226 PMID:10764737 PMID:10775535 PMID:10783295 PMID:10811883 PMID:10854108 PMID:11013240 PMID:11027672 PMID:11043553 PMID:11070093 PMID:11079548 PMID:11094121 PMID:11094128 PMID:11102478 PMID:11124426 PMID:11126202 PMID:11157069 PMID:11198283 PMID:11389157 PMID:11395394 PMID:11402113 PMID:11432849 PMID:11489281 PMID:11504726 PMID:11524469 PMID:11568920 PMID:11684347 PMID:11701593 PMID:11710891 PMID:11764087 PMID:11796781 PMID:11836371 PMID:11895378 PMID:11920851 PMID:11959395 PMID:11978814 PMID:11992262 PMID:12048239 PMID:12111359 PMID:12119298 PMID:12192622 PMID:12370477 PMID:12392798 PMID:12433263 PMID:12484344 PMID:12493631 PMID:12493737 PMID:12549925 PMID:12552037 PMID:12615638 PMID:12660785 PMID:12752408 PMID:12805290 PMID:12810495 PMID:12817569 PMID:12885573 PMID:12891668 PMID:14557582 PMID:14623725 PMID:14743455 PMID:14769392 PMID:14966176 PMID:15003276 PMID:15004326 PMID:15094846 PMID:15115757 PMID:15119739 PMID:15122701 PMID:15205973 PMID:15272895 PMID:15337637 PMID:15534260 PMID:15622541 PMID:15718035 PMID:15772361 PMID:15776278 PMID:16033913 PMID:16116115 PMID:16199547 PMID:16216949 PMID:16227967 PMID:16267640 PMID:16344340 PMID:16533963 PMID:16534109 PMID:16628450 PMID:16651627 PMID:16669732 PMID:16710641 PMID:16752394 PMID:16805926 PMID:16897084 PMID:16923167 PMID:16930450 PMID:16941492 PMID:16952411 PMID:16959576 PMID:17108687 PMID:17186461 PMID:17188713 PMID:17197420 PMID:17254019 PMID:17288597 PMID:17320044 PMID:17366635 PMID:17431506 PMID:17493013 PMID:17502474 PMID:17545141 PMID:17553989 PMID:17576681 PMID:17615170 PMID:17854491 PMID:17931627 PMID:17962197 PMID:17968601 PMID:18024701 PMID:18045903 PMID:18350357 PMID:18479822 PMID:18482978 PMID:18525293 PMID:18580586 PMID:18587238 PMID:18637955 PMID:18667258 PMID:18760694 PMID:18797263 PMID:19005074 PMID:19021905 PMID:19111578 PMID:19196715 PMID:19276550 PMID:19276551 PMID:19430857 PMID:19457079 PMID:19555742 PMID:19659892 PMID:19667325 PMID:19776335 PMID:19849793 PMID:19912322 PMID:19915487 PMID:20047059 PMID:20049724 PMID:20083199 PMID:20145736 PMID:20157243 PMID:20164095 PMID:20194882 PMID:20205669 PMID:20301414 PMID:20332427 PMID:20460383 PMID:20481270 PMID:20484632 PMID:20628413 PMID:20634584 PMID:20729396 PMID:20847418 PMID:21094210 PMID:21335660 PMID:21357415 PMID:21373759 PMID:21422519 PMID:21531718 PMID:21559198 PMID:21559374 PMID:21685457 PMID:21725313 PMID:21726674 PMID:21822699 PMID:21919498 PMID:21952501 PMID:21959359 PMID:22115042 PMID:22118943 PMID:22188655 PMID:22221884 PMID:22232349 PMID:22242180 PMID:22306804 PMID:22312439 PMID:22343824 PMID:22426017 PMID:22460587 PMID:22461631 PMID:22475797 PMID:22503161 PMID:22505025 PMID:22508690 PMID:22517194 PMID:22572737 PMID:22581678 PMID:22584618 PMID:22689192 PMID:22766738 PMID:22810102 PMID:22906081 PMID:22956200 PMID:23085935 PMID:23114514 PMID:23123781 PMID:23341831 PMID:23380992 PMID:23383383 PMID:23409063 PMID:23483213 PMID:23539189 PMID:23570890 PMID:23579325 PMID:23588422 PMID:23638752 PMID:23705774 PMID:23752245 PMID:23792692 PMID:23843529 PMID:23850332 PMID:23861362 PMID:23885714 PMID:23990795 PMID:24011544 PMID:24093083 PMID:24121961 PMID:24158021 PMID:24217025 PMID:24304563 PMID:24352661 PMID:24418614 PMID:24463146 PMID:24559647 PMID:24625695 PMID:24698269 PMID:24773620 PMID:24860142 PMID:24880964 PMID:24918054 PMID:24928124 PMID:25027006 PMID:25108559 PMID:25174650 PMID:25182737 PMID:25217249 PMID:25239621 PMID:25285942 PMID:25299611 PMID:25323700 PMID:25326637 PMID:25333068 PMID:25394380 PMID:25471389 PMID:25741723 PMID:25741868 PMID:25921538 PMID:25937274 PMID:25959826 PMID:26051801 PMID:26166206 PMID:26194182 PMID:26214276 PMID:26242991 PMID:26243271 PMID:26337232 PMID:26396515 PMID:26410308 PMID:26438723 PMID:26462451 PMID:26467025 PMID:26481686 PMID:26549787 PMID:26756738 PMID:26826204 PMID:26888304 PMID:26923592 PMID:26925509 PMID:27014028 PMID:27014058 PMID:27073747 PMID:27100199 PMID:27100200 PMID:27206484 PMID:27264813 PMID:27312774 PMID:27345973 PMID:27357204 PMID:27454811 PMID:27535542 PMID:27540966 PMID:27614114 PMID:27622770 PMID:27644130 PMID:27777022 PMID:27793474 PMID:27810638 PMID:27816212 PMID:27836335 PMID:27926491 PMID:27930341 PMID:28008242 PMID:28082723 PMID:28269784 PMID:28323683 PMID:28350801 PMID:28492532 PMID:28532646 PMID:28550247 PMID:28554858 PMID:28749476 PMID:28753424 PMID:28767663 PMID:29091718 PMID:29142009 PMID:29316780 PMID:29404783 PMID:29494861 PMID:29525180 PMID:29571857 PMID:29661148 PMID:29692703 PMID:29874583 PMID:30021643 PMID:30045758 PMID:30054184 PMID:30090657 PMID:30138848 PMID:30200536 PMID:30279455 PMID:30412504 PMID:30528841 PMID:30567237 PMID:30590039 PMID:30598257 PMID:30630874 PMID:30716424 PMID:30745123 PMID:30797548 PMID:30814350 PMID:30822634 PMID:30924900 PMID:30954774 PMID:31109937 PMID:31153663 PMID:31235249 PMID:31381512 PMID:31440394 PMID:31536626 PMID:31686034 PMID:31847883 PMID:31914229 PMID:31996268 PMID:32032730 PMID:32087291 PMID:32103039 PMID:32105841 PMID:32328830 PMID:32395715 PMID:32556937 PMID:32579498 PMID:32590294 PMID:32594361 PMID:32894632 PMID:32917274 PMID:33188013 PMID:33188256 PMID:33203472 PMID:33274538 PMID:33440141 PMID:33571524 PMID:33855944 PMID:33918046 PMID:34102969 PMID:34220489 PMID:34319632 PMID:34331941 PMID:34366350 PMID:34389718 PMID:34776449 PMID:34901437 PMID:35065037 PMID:35260199 PMID:35278341 PMID:35365805 PMID:35645353 PMID:35949106 PMID:37712079 More...
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NCBI chr 6:103,323,052...103,375,088
Ensembl chr 6:103,323,120...103,371,650
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G |
Apoe |
apolipoprotein E |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Alzheimer disease 4 | ClinVar Annotator: match by term: Alzheimer disease familial type 4 |
CTD ClinVar |
PMID:2987927 PMID:3353383 PMID:3922972 PMID:7263700 PMID:8294487 PMID:8346443 PMID:8350998 PMID:8488843 PMID:8618665 PMID:8644717 PMID:9279208 PMID:9343467 PMID:9360638 PMID:9932938 PMID:10213152 PMID:10213549 PMID:10799751 PMID:11068149 PMID:11835377 PMID:11940689 PMID:11940706 PMID:14741101 PMID:15048896 PMID:15146461 PMID:15184602 PMID:15326261 PMID:15557508 PMID:15668424 PMID:16621646 PMID:18338393 PMID:18979180 PMID:18987351 PMID:19605830 PMID:19846850 PMID:21742527 PMID:22381401 PMID:22949395 PMID:23060451 PMID:23296339 PMID:23571587 PMID:24033266 PMID:24082139 PMID:24126160 PMID:24644280 PMID:25741868 PMID:26802169 PMID:27260402 PMID:28492532 PMID:29842932 PMID:32058863 PMID:32376954 PMID:32808727 PMID:35120450 PMID:35628605 PMID:35639372 More...
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NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
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G |
Psen1 |
presenilin 1 |
|
ISO |
ClinVar Annotator: match by term: Alzheimer disease 4 |
ClinVar |
PMID:8910898 PMID:9189043 PMID:9437013 PMID:9804121 PMID:10468510 PMID:11395394 PMID:12552037 PMID:14743455 PMID:15205973 PMID:16267640 PMID:17188713 PMID:20301414 PMID:23539189 PMID:25108559 PMID:26410308 PMID:26467025 PMID:27014028 PMID:27777022 PMID:27930341 PMID:28350801 PMID:28492532 PMID:29494861 PMID:29661148 PMID:30045758 PMID:30528841 PMID:30598257 PMID:31109937 PMID:32917274 PMID:34389718 More...
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NCBI chr 6:103,323,052...103,375,088
Ensembl chr 6:103,323,120...103,371,650
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G |
Psen2 |
presenilin 2 |
|
ISO |
ClinVar Annotator: match by term: Alzheimer disease 4 | ClinVar Annotator: match by term: Alzheimer disease familial type 4 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:7638622 PMID:7651536 PMID:8661049 PMID:8939861 PMID:8986743 PMID:9050898 PMID:9384602 PMID:9450781 PMID:9536098 PMID:9813158 PMID:10631141 PMID:10732806 PMID:10846187 PMID:11193137 PMID:11723295 PMID:12549925 PMID:12925374 PMID:14623725 PMID:14769392 PMID:15055444 PMID:15130954 PMID:15258222 PMID:15663477 PMID:15776278 PMID:16155344 PMID:16199547 PMID:16474849 PMID:16533963 PMID:16959576 PMID:17186461 PMID:17345043 PMID:17576681 PMID:17914065 PMID:18350357 PMID:18667258 PMID:18727676 PMID:18833506 PMID:18834536 PMID:19073399 PMID:19659892 PMID:19768372 PMID:20194882 PMID:20301414 PMID:20333730 PMID:20375137 PMID:20420489 PMID:20457965 PMID:20458010 PMID:20634584 PMID:21234330 PMID:21409510 PMID:21483645 PMID:21544564 PMID:21559247 PMID:21959359 PMID:22115042 PMID:22118943 PMID:22221884 PMID:22249458 PMID:22312439 PMID:22412221 PMID:22475797 PMID:22503161 PMID:22505025 PMID:22753229 PMID:22805202 PMID:22834455 PMID:23365231 PMID:23383383 PMID:23558482 PMID:23861362 PMID:23990795 PMID:24093083 PMID:24559647 PMID:24594196 PMID:24669286 PMID:24704512 PMID:24754482 PMID:24844686 PMID:24880964 PMID:24928124 PMID:25104557 PMID:25323700 PMID:25604855 PMID:25741868 PMID:25937274 PMID:26159191 PMID:26166204 PMID:26220970 PMID:26242991 PMID:26410308 PMID:26467025 PMID:26507310 PMID:26522186 PMID:26836416 PMID:26899768 PMID:27128372 PMID:27293189 PMID:27883225 PMID:28008242 PMID:28166811 PMID:28191889 PMID:28243073 PMID:28350801 PMID:28492532 PMID:28985224 PMID:29692703 PMID:30021643 PMID:30045758 PMID:30279455 PMID:30412492 PMID:30598257 PMID:30636737 PMID:30822634 PMID:30822648 PMID:30954774 PMID:31020001 PMID:31914229 PMID:32032730 PMID:32087291 PMID:32317127 PMID:32345996 PMID:32917274 PMID:33061333 PMID:34102969 PMID:35328387 PMID:35418126 PMID:35491795 More...
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NCBI chr13:91,967,506...91,993,240
Ensembl chr13:91,967,983...91,993,174
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G |
Sorcs1 |
sortilin-related VPS10 domain containing receptor 1 |
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ISO |
ClinVar Annotator: match by term: Alzheimer disease 6 |
ClinVar |
PMID:19241460 PMID:21280075 PMID:25741868 |
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NCBI chr 1:249,080,662...249,594,520
Ensembl chr 1:249,081,355...249,594,507
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G |
Abca7 |
ATP binding cassette subfamily A member 7 |
susceptibility |
ISO |
ClinVar Annotator: match by term: ALZHEIMER DISEASE 9, LATE-ONSET | ClinVar Annotator: match by term: Alzheimer disease 9 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:25741868 PMID:25807283 PMID:26141617 PMID:27066581 PMID:28492532 PMID:28789839 More...
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NCBI chr 7:9,691,452...9,711,466
Ensembl chr 7:9,691,449...9,711,425
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G |
Sorl1 |
sortilin related receptor 1 |
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ISO |
ClinVar Annotator: match by term: Alzheimer disease 9 |
ClinVar |
PMID:28789839 |
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NCBI chr 8:42,341,704...42,504,435
Ensembl chr 8:42,341,704...42,504,513
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G |
App |
amyloid beta precursor protein |
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ISO |
ClinVar Annotator: match by term: Alzheimer disease, early-onset, with cerebral amyloid angiopathy |
ClinVar |
PMID:16369530 PMID:19047566 |
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NCBI chr11:24,019,774...24,236,584
Ensembl chr11:24,019,778...24,236,561
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G |
Atp5pf |
ATP synthase peripheral stalk subunit F6 |
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ISO |
ClinVar Annotator: match by term: Alzheimer disease, early-onset, with cerebral amyloid angiopathy |
ClinVar |
PMID:16369530 PMID:19047566 |
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NCBI chr11:23,881,594...23,889,581
Ensembl chr11:23,881,592...23,889,119
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G |
Cyyr1 |
cysteine and tyrosine rich 1 |
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ISO |
ClinVar Annotator: match by term: Alzheimer disease, early-onset, with cerebral amyloid angiopathy |
ClinVar |
PMID:16369530 PMID:19047566 |
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NCBI chr11:24,557,620...24,664,007
Ensembl chr11:24,515,316...24,663,961
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G |
Gabpa |
GA binding protein transcription factor subunit alpha |
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ISO |
ClinVar Annotator: match by term: Alzheimer disease, early-onset, with cerebral amyloid angiopathy |
ClinVar |
PMID:16369530 PMID:19047566 |
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NCBI chr11:23,888,586...23,917,612
Ensembl chr11:23,888,815...23,917,605
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G |
Jam2 |
junctional adhesion molecule 2 |
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ISO |
ClinVar Annotator: match by term: Alzheimer disease, early-onset, with cerebral amyloid angiopathy |
ClinVar |
PMID:16369530 PMID:19047566 |
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NCBI chr11:23,830,820...23,880,071
Ensembl chr11:23,831,106...23,880,063
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G |
Mir155 |
microRNA 155 |
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ISO |
ClinVar Annotator: match by term: Alzheimer disease, early-onset, with cerebral amyloid angiopathy |
ClinVar |
PMID:16369530 PMID:19047566 |
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NCBI chr11:23,774,654...23,774,718
Ensembl chr11:23,774,654...23,774,718
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G |
Mir155hg |
Mir155 host gene |
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ISO |
ClinVar Annotator: match by term: Alzheimer disease, early-onset, with cerebral amyloid angiopathy |
ClinVar |
PMID:16369530 PMID:19047566 |
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NCBI chr11:23,773,468...23,775,697
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G |
Mrpl39 |
mitochondrial ribosomal protein L39 |
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ISO |
ClinVar Annotator: match by term: Alzheimer disease, early-onset, with cerebral amyloid angiopathy |
ClinVar |
PMID:16369530 PMID:19047566 |
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NCBI chr11:23,779,655...23,795,146
Ensembl chr11:23,779,662...23,795,125
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G |
Psen1 |
presenilin 1 |
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ISO |
ClinVar Annotator: match by term: Alzheimer disease familial 3, with spastic paraparesis |
ClinVar |
PMID:24121961 PMID:25741868 PMID:27930341 PMID:28492532 PMID:34776449 PMID:35365805 More...
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NCBI chr 6:103,323,052...103,375,088
Ensembl chr 6:103,323,120...103,371,650
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G |
Apoe |
apolipoprotein E |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
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G |
Psen1 |
presenilin 1 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Alzheimer disease, familial, 3, with spastic paraparesis and apraxia |
CTD ClinVar |
PMID:11920851 PMID:15534188 PMID:25741868 |
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NCBI chr 6:103,323,052...103,375,088
Ensembl chr 6:103,323,120...103,371,650
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G |
Psen1 |
presenilin 1 |
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ISO |
ClinVar Annotator: match by term: Alzheimer disease, familial, 3, with spastic paraparesis and unusual plaques | ClinVar Annotator: match by term: Alzheimer disease, familial, 3, with unusual plaques | ClinVar Annotator: match by term: Alzheimer disease, familial, with spastic paraparesis and unusual plaques |
ClinVar |
PMID:7550356 PMID:8733749 PMID:8755489 PMID:9172170 PMID:9546792 PMID:10720282 PMID:11198283 PMID:11524469 PMID:12111359 PMID:12370477 PMID:12493737 PMID:14557582 PMID:15159497 PMID:15732120 PMID:16033913 PMID:19667325 PMID:20634584 PMID:22461631 PMID:22766738 PMID:24217025 PMID:25471389 PMID:25741868 PMID:27777022 PMID:27930341 PMID:28350801 PMID:28492532 PMID:33440141 More...
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NCBI chr 6:103,323,052...103,375,088
Ensembl chr 6:103,323,120...103,371,650
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G |
Ubqln2 |
ubiquilin 2 |
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ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 15 |
OMIM ClinVar |
PMID:19377476 PMID:21857683 PMID:22560112 PMID:22892309 PMID:23138764 PMID:23312802 PMID:24215460 PMID:24771548 PMID:25333069 PMID:25398946 PMID:25616961 PMID:25741868 PMID:26075709 PMID:26467025 PMID:26601740 PMID:28492532 PMID:28716533 PMID:30348461 PMID:34273246 PMID:35896380 More...
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NCBI chr X:17,853,086...17,856,505
Ensembl chr X:17,853,114...17,856,505
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G |
Tuba4a |
tubulin, alpha 4A |
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ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 22 with frontotemporal dementia | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 22 |
OMIM ClinVar |
PMID:25374358 PMID:25741868 |
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NCBI chr 9:76,709,617...76,714,327
Ensembl chr 9:76,709,614...76,713,918
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G |
Fus |
Fus RNA binding protein |
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ISO ISS |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 6, autosomal recessive | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 6 OMIM:608030 CTD Direct Evidence: marker/mechanism DNA:mutations:cds: |
OMIM ClinVar MouseDO CTD RGD |
PMID:9536098 PMID:12840784 PMID:12858291 PMID:16199547 PMID:17576681 PMID:19251627 PMID:19251628 PMID:19450904 PMID:19741215 PMID:19741216 PMID:19861302 PMID:20018407 PMID:20124201 PMID:20138404 PMID:20142531 PMID:20224596 PMID:20232451 PMID:20385912 PMID:20472325 PMID:20544928 PMID:20577002 PMID:20579074 PMID:20598774 PMID:20606625 PMID:20621307 PMID:20655970 PMID:20660363 PMID:20668259 PMID:20668261 PMID:20674093 PMID:20699327 PMID:21109527 | |