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: | cognitive disorder |
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Accession: | DOID:1561
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browse the term
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Definition: | A disease of mental health that affects cognitive functions including memory processing, perception and problem solving. (DO) |
Synonyms: | exact_synonym: | Clerambault syndrome; Cognition Disorders; Delirium, Dementia, Amnestic, Cognitive Disorders; Kandinsky Syndrome; Neurocognitive Disorder; Neurocognitive Disorders; Nonpsychotic Organic Brain Syndrome; Organic Mental Disorder; Organic Mental Disorders; cognition disorder; cognitive disease; overinclusion; psychotic organic mental disorders; traumatic psychoses |
| primary_id: | MESH:D003072; MESH:D019965 |
| xref: | ICD10CM:F09; NCI:C34870 |
For additional species annotation, visit the
Alliance of Genome Resources.
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Abcc4 |
ATP binding cassette subfamily C member 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29382564 |
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NCBI chr15:103,695,415...103,927,980
Ensembl chr15:103,696,557...103,927,592
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Aff4 |
AF4/FMR2 family, member 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25730767 |
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NCBI chr10:38,692,167...38,773,021
Ensembl chr10:38,692,211...38,773,021
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Agt |
angiotensinogen |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22982863 |
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NCBI chr19:57,321,594...57,333,460
Ensembl chr19:57,321,640...57,333,433
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Apbb2 |
amyloid beta precursor protein binding family B member 2 |
severity |
ISO |
DNA:SNP,haplotype: : rs13133980,rs17443013 (human) |
RGD |
PMID:23384821 |
RGD:9684953 |
NCBI chr14:43,205,047...43,526,968
Ensembl chr14:43,512,901...43,523,080
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Apoc3 |
apolipoprotein C3 |
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ISO |
associated with Diabetes Mellitus; |
RGD |
PMID:19424489 |
RGD:10054096 |
NCBI chr 8:50,529,318...50,531,498
Ensembl chr 8:50,529,318...50,531,498
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Apoe |
apolipoprotein E |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18239197 |
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NCBI chr 1:80,612,894...80,616,820
Ensembl chr 1:80,612,895...80,617,057
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App |
amyloid beta precursor protein |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17406652 PMID:17600377 PMID:21350020 PMID:24189446 PMID:26945731 PMID:32522471, PMID:19101630, PMID:17536186 |
RGD:10054259, RGD:10054262 |
NCBI chr11:24,425,013...24,641,872
Ensembl chr11:24,425,005...24,641,858
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Bche |
butyrylcholinesterase |
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ISO |
CTD Direct Evidence: marker/mechanism|therapeutic |
CTD |
PMID:12003252 PMID:20513442 |
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NCBI chr 2:171,104,476...171,196,186
Ensembl chr 2:171,100,140...171,196,395
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Bdnf |
brain-derived neurotrophic factor |
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ISO |
associated with WAGR Syndrome;DNA:haploinsufficiency: : |
RGD |
PMID:23517654 |
RGD:8655893 |
NCBI chr 3:100,768,637...100,819,216
Ensembl chr 3:100,768,637...100,819,210
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Capn2 |
calpain 2 |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:31672664 |
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NCBI chr13:100,878,649...100,928,811
Ensembl chr13:100,878,650...100,928,811
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Cdk5r1 |
cyclin-dependent kinase 5 regulatory subunit 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17581637 |
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NCBI chr10:67,862,054...67,863,255
Ensembl chr10:67,862,054...67,863,255
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Comt |
catechol-O-methyltransferase |
severity |
ISO |
associated with Bipolar Disorder;DNA:polymorphism: :p.V158M (human) CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17123785, PMID:16542182 |
RGD:8662329 |
NCBI chr11:86,715,981...86,735,630
Ensembl chr11:86,715,981...86,735,622
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Crh |
corticotropin releasing hormone |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16039799 |
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NCBI chr 2:104,459,999...104,461,863
Ensembl chr 2:104,459,999...104,461,863
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Csf3 |
colony stimulating factor 3 |
treatment |
ISO |
associated with Status Epilepticus; |
RGD |
PMID:20410588 |
RGD:11039464 |
NCBI chr10:86,616,785...86,619,160
Ensembl chr10:86,616,785...86,619,157
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Cyp2d4 |
cytochrome P450, family 2, subfamily d, polypeptide 4 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20727252 |
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NCBI chr 7:123,599,264...123,608,436
Ensembl chr 7:123,599,266...123,608,436
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Dbn1 |
drebrin 1 |
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IEP ISO |
protein:increased expression:brain: protein:altered expression:superior temporal cortex, superior temporal cortex: |
RGD |
PMID:21440628, PMID:16783169 |
RGD:10398818, RGD:10398823 |
NCBI chr17:9,679,511...9,693,878
Ensembl chr17:9,679,628...9,693,820
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Dmd |
dystrophin |
severity |
ISO |
DNA:deletion:promoter,start site: |
RGD |
PMID:24265581 |
RGD:12879884 |
NCBI chr X:51,149,358...53,519,271
Ensembl chr X:51,286,737...53,519,259
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Drd2 |
dopamine receptor D2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19910723 |
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NCBI chr 8:53,678,777...53,743,643
Ensembl chr 8:53,678,777...53,743,642
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Drd3 |
dopamine receptor D3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15619116 |
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NCBI chr11:61,819,102...61,883,223
Ensembl chr11:61,822,077...61,874,327
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Eif2s1 |
eukaryotic translation initiation factor 2 subunit alpha |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17406652 |
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NCBI chr 6:102,048,372...102,073,041
Ensembl chr 6:102,048,372...102,073,041
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Epo |
erythropoietin |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:20833152 |
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NCBI chr12:22,274,828...22,278,268
Ensembl chr12:22,274,828...22,278,266
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Fgf14 |
fibroblast growth factor 14 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26089778 |
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NCBI chr15:110,382,274...111,077,027
Ensembl chr15:110,385,217...110,612,681
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Fgf2 |
fibroblast growth factor 2 |
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ISO |
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RGD |
PMID:17955369 |
RGD:2315912 |
NCBI chr 2:124,081,072...124,134,133
Ensembl chr 2:124,081,072...124,134,681
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Fmr1 |
FMRP translational regulator 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22043169 |
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NCBI chr X:154,684,924...154,722,369
Ensembl chr X:154,684,935...154,722,314
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Fosb |
FosB proto-oncogene, AP-1 transcription factor subunit |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24067299 |
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NCBI chr 1:80,214,691...80,221,417
Ensembl chr 1:80,214,494...80,221,710
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Gdi1 |
GDP dissociation inhibitor 1 |
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ISO |
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RGD |
PMID:18829665 |
RGD:13208822 |
NCBI chr X:156,400,734...156,407,396
Ensembl chr X:156,400,736...156,407,404
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Grin1 |
glutamate ionotropic receptor NMDA type subunit 1 |
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IEP |
associated with Fetal Hypoxia;mRNA, protein:decreased expression:hippocampus |
RGD |
PMID:26656067 |
RGD:13792690 |
NCBI chr 3:2,507,745...2,534,664
Ensembl chr 3:2,506,896...2,534,663
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Grin2a |
glutamate ionotropic receptor NMDA type subunit 2A |
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IEP |
associated with Fetal Hypoxia;mRNA, protein:decreased expression:hippocampus |
RGD |
PMID:26656067 |
RGD:13792690 |
NCBI chr10:5,707,806...6,123,568
Ensembl chr10:5,930,298...6,119,990
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Grin2b |
glutamate ionotropic receptor NMDA type subunit 2B |
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IEP |
associated with Fetal Hypoxia;mRNA, protein:decreased expression:hippocampus |
RGD |
PMID:26656067 |
RGD:13792690 |
NCBI chr 4:169,541,620...170,000,216
Ensembl chr 4:169,560,387...169,999,873
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Gsk3b |
glycogen synthase kinase 3 beta |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24634145 |
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NCBI chr11:65,060,884...65,208,842
Ensembl chr11:65,066,235...65,209,268
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Hdac2 |
histone deacetylase 2 |
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ISO |
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RGD |
PMID:22388814 |
RGD:9590324 |
NCBI chr20:43,084,870...43,108,198
Ensembl chr20:43,084,870...43,108,198
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Htr7 |
5-hydroxytryptamine receptor 7 |
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IMP |
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RGD |
PMID:21558435 |
RGD:6480666 |
NCBI chr 1:254,547,964...254,671,811
Ensembl chr 1:254,547,620...254,671,778
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Igf2 |
insulin-like growth factor 2 |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:21270887 |
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NCBI chr 1:215,828,102...215,839,081
Ensembl chr 1:215,828,102...215,846,911
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Il4 |
interleukin 4 |
treatment |
IEP |
associated with Radiation Injuries, Experimental |
RGD |
PMID:24713401 |
RGD:10402800 |
NCBI chr10:38,963,979...38,969,531
Ensembl chr10:38,963,979...38,969,531
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Ins2 |
insulin 2 |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:21911655 |
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NCBI chr 1:215,856,967...215,858,034
Ensembl chr 1:215,856,971...215,858,034
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Irak1 |
interleukin-1 receptor-associated kinase 1 |
treatment |
IEP |
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RGD |
PMID:22277195 |
RGD:7495794 |
NCBI chr X:156,716,469...156,726,367
Ensembl chr X:156,716,604...156,725,977
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Lamb2 |
laminin subunit beta 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30226399 |
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NCBI chr 8:117,268,335...117,280,517
Ensembl chr 8:117,268,337...117,280,517
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Lamp2 |
lysosomal-associated membrane protein 2 |
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IMP |
in hemizygote mutant male (LAMP2y/-) |
RGD |
PMID:29720683 |
RGD:13703117 |
NCBI chr X:124,722,628...124,766,079
Ensembl chr X:124,722,628...124,766,044
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Lamp2em1 |
lysosomal-associated membrane protein 2; TALEN induced mutant1 |
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IMP |
in hemizygote mutant male (LAMP2y/-) |
RGD |
PMID:29720683 |
RGD:13703117 |
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Maoa |
monoamine oxidase A |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24402517 |
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NCBI chr X:6,554,698...6,620,722
Ensembl chr X:6,554,698...6,620,722
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Map3k5 |
mitogen-activated protein kinase kinase kinase 5 |
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ISO |
associated with Chronic Cerebral Hypoperfusion; |
RGD |
PMID:24371084 |
RGD:10412307 |
NCBI chr 1:15,412,603...15,613,752
Ensembl chr 1:15,412,603...15,613,746
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Mapk14 |
mitogen activated protein kinase 14 |
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ISO |
associated with Chronic Cerebral Hypoperfusion; |
RGD |
PMID:24371084 |
RGD:10412307 |
NCBI chr20:5,933,290...5,995,137
Ensembl chr20:5,933,303...5,995,137
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Mapt |
microtubule-associated protein tau |
treatment |
ISO IDA |
CTD Direct Evidence: marker/mechanism associated with Hypoxia associated with obesity associated with Insulin Resistance associated with hypothyroidism associated with Hypothermia |
CTD |
PMID:24556215 PMID:26945731, PMID:24993525, PMID:25683673, PMID:24335173, PMID:24484683, PMID:24978200, PMID:25782579 |
RGD:13801018, RGD:13801008, RGD:13800925, RGD:13800924, RGD:13800922, RGD:13800916 |
NCBI chr10:92,289,002...92,386,517
Ensembl chr10:92,288,910...92,386,517
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Met |
MET proto-oncogene, receptor tyrosine kinase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20080979 |
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NCBI chr 4:44,747,467...44,854,628
Ensembl chr 4:44,774,741...44,852,665
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Mmp3 |
matrix metallopeptidase 3 |
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IEP |
protein:increased expression:brain |
RGD |
PMID:22363061 |
RGD:8694114 |
NCBI chr 8:5,676,608...5,698,579
Ensembl chr 8:5,676,665...5,698,579
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Mmp9 |
matrix metallopeptidase 9 |
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IEP |
protein:increased expression:brain |
RGD |
PMID:22363061 |
RGD:8694114 |
NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
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Mt1 |
metallothionein 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18226494 |
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NCBI chr19:11,301,991...11,303,007
Ensembl chr17:78,793,336...78,793,724
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Mt2A |
metallothionein 2A |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18226494 |
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NCBI chr19:11,307,966...11,308,740
Ensembl chr19:11,307,967...11,308,740
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Nr0b2 |
nuclear receptor subfamily 0, group B, member 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29382564 |
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NCBI chr 5:151,776,004...151,779,319
Ensembl chr 5:151,776,004...151,779,319
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Otc |
ornithine transcarbamylase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:8778603 |
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NCBI chr X:13,524,804...13,601,074
Ensembl chr X:13,524,607...13,601,069
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Oxtr |
oxytocin receptor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20347913 |
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NCBI chr 4:144,399,326...144,417,598
Ensembl chr 4:144,403,358...144,416,116
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Pparg |
peroxisome proliferator-activated receptor gamma |
susceptibility |
ISO |
associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism: :p.P12A (human) |
RGD |
PMID:18639367 |
RGD:2301850 |
NCBI chr 4:147,274,055...147,399,383
Ensembl chr 4:147,274,107...147,399,380
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Prkn |
parkin RBR E3 ubiquitin protein ligase |
treatment |
ISO |
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RGD |
PMID:28532818 |
RGD:13432566 |
NCBI chr 1:48,880,015...50,069,998
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Psen1 |
presenilin 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26945731 |
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NCBI chr 6:107,169,514...107,221,000
Ensembl chr 6:107,169,528...107,216,798
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Ptgs2 |
prostaglandin-endoperoxide synthase 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12410334 |
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NCBI chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335
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Slc10a2 |
solute carrier family 10 member 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29382564 |
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NCBI chr16:90,324,420...90,350,254
Ensembl chr16:90,324,361...90,345,865
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Slc1a1 |
solute carrier family 1 member 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22575539 |
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NCBI chr 1:246,955,017...247,035,159
Ensembl chr 1:246,954,980...247,037,056
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Slc4a10 |
solute carrier family 4 member 10 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18413482 |
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NCBI chr 3:47,995,812...48,287,897
Ensembl chr 3:47,995,959...48,287,910
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Slc51a |
solute carrier family 51 subunit alpha |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29382564 |
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NCBI chr11:71,533,078...71,547,476
Ensembl chr11:71,533,078...71,547,476
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Slc51b |
solute carrier family 51 subunit beta |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29382564 |
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NCBI chr 8:70,930,196...70,938,559
Ensembl chr 8:70,930,347...70,932,986
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Slc6a4 |
solute carrier family 6 member 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23209555 |
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NCBI chr10:63,153,656...63,188,377
Ensembl chr10:63,153,651...63,176,463
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Smad4 |
SMAD family member 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22158539 |
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NCBI chr18:69,626,682...69,657,373
Ensembl chr18:69,627,757...69,671,199
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Tsc1 |
TSC complex subunit 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18067135 |
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NCBI chr 3:7,219,955...7,269,063
Ensembl chr 3:7,237,192...7,265,145
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Vip |
vasoactive intestinal peptide |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:8208360 |
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NCBI chr 1:42,169,307...42,177,582
Ensembl chr 1:42,169,501...42,177,582
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Zic2 |
Zic family member 2 |
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ISO |
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RGD |
PMID:22355535 |
RGD:11561947 |
NCBI chr15:108,908,366...108,913,812
Ensembl chr15:108,908,607...108,912,737
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Ache |
acetylcholinesterase |
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IEP |
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RGD |
PMID:20645790 |
RGD:5509849 |
NCBI chr12:22,472,358...22,477,052
Ensembl chr12:22,472,358...22,478,753
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Cacna1c |
calcium voltage-gated channel subunit alpha1 C |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28696432 |
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NCBI chr 4:150,635,808...151,270,790
Ensembl chr 4:150,641,066...150,829,913
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Crp |
C-reactive protein |
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ISO |
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RGD |
PMID:19628221 |
RGD:9585647 |
NCBI chr13:91,080,448...91,081,358
Ensembl chr13:91,054,974...91,093,713
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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 chr18:57,513,792...57,515,834
Ensembl chr18:57,513,793...57,515,834
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Epo |
erythropoietin |
treatment |
ISO |
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RGD |
PMID:20818790 |
RGD:10395393 |
NCBI chr12:22,274,828...22,278,268
Ensembl chr12:22,274,828...22,278,266
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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 chr14:20,267,023...20,302,577
Ensembl chr14:20,266,891...20,302,581
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Il1b |
interleukin 1 beta |
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IEP |
protein:increased expression:neocortex |
RGD |
PMID:17678975 |
RGD:1626641 |
NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
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Insr |
insulin receptor |
severity |
ISO |
protein:increased expression:cerebrospinal fluid, plasma |
RGD |
PMID:22629383 |
RGD:10403033 |
NCBI chr12:1,682,527...1,816,414
Ensembl chr12:1,680,957...1,816,414
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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 9:88,033,668...88,086,488
Ensembl chr 9:88,033,668...88,086,488
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Npy |
neuropeptide Y |
severity |
ISO |
protein:increased expression:cerebrospinal fluid |
RGD |
PMID:8815163 |
RGD:10431910 |
NCBI chr 4:79,557,856...79,565,059
Ensembl chr 4:79,557,854...79,565,097 Ensembl chr 4:79,557,854...79,565,097
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G |
Oprm1 |
opioid receptor, mu 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27400929 |
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NCBI chr 1:43,454,803...43,704,948
Ensembl chr 1:43,454,803...43,704,948
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G |
Pdgfb |
platelet derived growth factor subunit B |
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ISO |
|
RGD |
PMID:21368226 |
RGD:6482787 |
NCBI chr 7:121,215,458...121,233,092
Ensembl chr 7:121,214,628...121,232,741
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G |
Slc6a4 |
solute carrier family 6 member 4 |
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ISO |
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RGD |
PMID:25404050 |
RGD:38676266 |
NCBI chr10:63,153,656...63,188,377
Ensembl chr10:63,153,651...63,176,463
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G |
Aldh2 |
aldehyde dehydrogenase 2 family member |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26711020 |
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NCBI chr12:40,466,418...40,498,813
Ensembl chr12:40,466,495...40,498,752
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G |
Foxo4 |
forkhead box O4 |
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IEP |
protein:increased phosphorylation:small intestine: |
RGD |
PMID:23292333 |
RGD:10402360 |
NCBI chr X:71,155,284...71,162,158
Ensembl chr X:71,155,601...71,162,158
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G |
Gsr |
glutathione-disulfide reductase |
treatment |
IEP |
|
RGD |
PMID:24972622 |
RGD:10401897 |
NCBI chr16:62,197,617...62,239,987
Ensembl chr16:62,197,617...62,241,361
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G |
A2m |
alpha-2-macroglobulin |
no_association onset |
ISO |
ClinVar Annotator: match by term: Alzheimer disease, susceptibility to CTD Direct Evidence: marker/mechanism DNA:polymorphisms: :multiple DNA:deletion, polymorphisms, haplotypes: :multiple DNA:polymorphism: :p.I1000V (human) DNA:insertion/deletion, substitution DNA:deletion:splice junction: |
ClinVar CTD |
PMID:1717945 PMID:9697696 PMID:9811940 PMID:15023809 PMID:24033266, PMID:10319853, PMID:12966032, PMID:12966032, PMID:10936700, PMID:12133586, PMID:14675603, PMID:9697696 |
RGD:1300322, RGD:10046016, RGD:10046016, RGD:10046015, RGD:10046014, RGD:10046012, RGD:1302534 |
NCBI chr 4:154,309,426...154,359,138
Ensembl chr 4:154,309,426...154,359,137 Ensembl chr 4:154,309,426...154,359,137
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G |
Abat |
4-aminobutyrate aminotransferase |
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ISO |
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RGD |
PMID:1627256 |
RGD:10046060 |
NCBI chr10:7,093,406...7,200,439
Ensembl chr10:7,093,405...7,200,499
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G |
Abca1 |
ATP binding cassette subfamily A member 1 |
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ISO |
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RGD |
PMID:15024730 |
RGD:1300323 |
NCBI chr 5:69,857,717...69,983,042
Ensembl chr 5:69,857,771...69,983,015
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G |
Abca7 |
ATP binding cassette subfamily A member 7 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21460840 PMID:25807283 |
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NCBI chr 7:12,742,433...12,762,423
Ensembl chr 7:12,742,433...12,762,341
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G |
Abcb1a |
ATP binding cassette subfamily B member 1A |
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ISO |
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RGD |
PMID:25991605 |
RGD:13801010 |
NCBI chr 4:22,339,829...22,517,642
Ensembl chr 4:22,133,521...22,425,515
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G |
Abcc1 |
ATP binding cassette subfamily C member 1 |
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ISO |
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RGD |
PMID:25991605 |
RGD:13801010 |
NCBI chr10:549,537...672,235
Ensembl chr10:549,883...672,196
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G |
Abi3 |
ABI family, member 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28714976 |
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NCBI chr10:83,644,086...83,655,182
Ensembl chr10:83,644,086...83,655,182
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G |
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 3:10,041,820...10,145,076
Ensembl chr 3:10,041,826...10,144,388 Ensembl chr 3:10,041,826...10,144,388
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G |
Acadvl |
acyl-CoA dehydrogenase, very long chain |
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ISO |
protein:decreased expression:brain |
RGD |
PMID:25260493 |
RGD:10047114 |
NCBI chr10:56,619,321...56,624,468
Ensembl chr10:56,619,303...56,624,526
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G |
Ace |
angiotensin I converting enzyme |
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IMP ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9916793 PMID:10643899 PMID:14872014 PMID:17192785 PMID:30820047, PMID:19080340, PMID:15118671 |
RGD:2325232, RGD:1331525 |
NCBI chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
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G |
Ache |
acetylcholinesterase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22944069 PMID:23047022, PMID:16581404 |
RGD:5509844 |
NCBI chr12:22,472,358...22,477,052
Ensembl chr12:22,472,358...22,478,753
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G |
Adam10 |
ADAM metallopeptidase domain 10 |
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IEP ISO |
protein:decreased expression:cerebral cortex, hippocampus CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30820047, PMID:23296102, PMID:24792732 |
RGD:13703032, RGD:13703037 |
NCBI chr 8:77,107,355...77,237,483
Ensembl chr 8:77,107,536...77,237,483
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G |
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 6:43,400,525...43,448,280
Ensembl chr 6:43,400,528...43,448,280
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G |
Adam2 |
ADAM metallopeptidase domain 2 |
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ISO |
protein:increased expression:brain |
RGD |
PMID:10686596 |
RGD:10047127 |
NCBI chr15:42,708,536...42,751,281
Ensembl chr15:42,708,387...42,751,330
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G |
Adam9 |
ADAM metallopeptidase domain 9 |
|
IEP |
protein:decreased expression:hippocampus |
RGD |
PMID:24792732 |
RGD:13703037 |
NCBI chr16:71,810,377...71,887,926
Ensembl chr16:71,810,377...71,887,926
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G |
Adamts1 |
ADAM metallopeptidase with thrombospondin type 1 motif, 1 |
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ISO |
ClinVar Annotator: match by term: Alzheimer's disease CTD Direct Evidence: marker/mechanism |
ClinVar CTD |
PMID:16369530 PMID:16921174 PMID:24691562 PMID:30820047 |
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NCBI chr11:25,342,119...25,350,938
Ensembl chr11:25,342,126...25,350,974
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G |
Adamts5 |
ADAM metallopeptidase with thrombospondin type 1 motif, 5 |
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ISO |
ClinVar Annotator: match by term: Alzheimer's disease |
ClinVar |
PMID:16369530 PMID:16921174 PMID:24691562 |
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NCBI chr11:25,411,174...25,456,639
Ensembl chr11:25,410,975...25,456,836
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G |
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 chr11:81,330,845...81,344,488
Ensembl chr11:81,330,293...81,344,488
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G |
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 3:164,937,188...164,964,819
Ensembl chr 3:164,937,198...164,964,702
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G |
Adra1a |
adrenoceptor alpha 1A |
susceptibility |
ISO |
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RGD |
PMID:114750 |
RGD:5688374 |
NCBI chr15:43,296,997...43,398,314
Ensembl chr15:43,298,794...43,392,451
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G |
Adrb3 |
adrenoceptor beta 3 |
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ISO |
DNA:missense mutation:cds:p.W64R (human) |
RGD |
PMID:17440948 |
RGD:2311642 |
NCBI chr16:69,003,541...69,006,632
Ensembl chr16:69,003,868...69,006,632
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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:21593432, PMID:23164356, PMID:23396166, PMID:23396166, PMID:22745485 |
RGD:1300365, RGD:7245965, RGD:7244287, RGD:7244266, RGD:7244266, RGD:6784502 |
NCBI chr20:4,363,152...4,366,079
Ensembl chr20:4,363,152...4,366,079
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G |
Agt |
angiotensinogen |
|
ISO |
protein:increased expression:cerebrospinal fluid |
RGD |
PMID:21297254 |
RGD:5129180 |
NCBI chr19:57,321,594...57,333,460
Ensembl chr19:57,321,640...57,333,433
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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 chr17:35,907,102...35,958,136
Ensembl chr17:35,907,108...35,958,077
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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 chr20:5,161,350...5,167,176
Ensembl chr20:5,161,333...5,166,448
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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:135,304,063...135,343,062
Ensembl chr X:135,304,066...135,343,087
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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 6:99,356,509...99,361,909
Ensembl chr 6:99,356,509...99,361,909
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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 5:157,759,448...157,768,473
Ensembl chr 5:157,759,416...157,768,471
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G |
Akt1 |
AKT serine/threonine kinase 1 |
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ISO |
protein:increased tyrosine phosphorylation:cerebral cortex |
RGD |
PMID:18023354 |
RGD:5509085 |
NCBI chr 6:137,218,398...137,239,970
Ensembl chr 6:137,218,376...137,236,258
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G |
Aldh2 |
aldehyde dehydrogenase 2 family member |
onset |
ISO |
|
RGD |
PMID:15126281 |
RGD:1599042 |
NCBI chr12:40,466,418...40,498,813
Ensembl chr12:40,466,495...40,498,752
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G |
Alox15 |
arachidonate 15-lipoxygenase |
|
ISO |
protein:increased expression:brain |
RGD |
PMID:20570249, PMID:15111312 |
RGD:5509595, RGD:5509620 |
NCBI chr10:56,953,692...56,962,145
Ensembl chr10:56,953,691...56,962,161
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G |
Ambra1 |
autophagy and beclin 1 regulator 1 |
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ISO |
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RGD |
PMID:23910655 |
RGD:14390071 |
NCBI chr 3:80,634,470...80,830,068
Ensembl chr 3:80,634,470...80,830,068
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G |
Amfr |
autocrine motility factor receptor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22313999 |
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NCBI chr19:11,473,538...11,509,500
Ensembl chr19:11,473,541...11,508,102
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G |
Ang |
angiogenin |
severity |
ISO |
protein:decreased expression:serum |
RGD |
PMID:22449478 |
RGD:6892705 |
NCBI chr15:28,022,926...28,028,636
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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 2:123,162,477...123,194,730
Ensembl chr 2:123,162,461...123,193,130
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G |
Aoc3 |
amine oxidase, copper containing 3 |
severity |
ISO |
protein:increased expression:plasma |
RGD |
PMID:17393059 |
RGD:2313919 |
NCBI chr10:89,251,370...89,259,313
Ensembl chr10:89,251,370...89,259,313
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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 1:170,387,625...170,411,263
Ensembl chr 1:170,387,609...170,404,056
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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 chr14:43,205,047...43,526,968
Ensembl chr14:43,512,901...43,523,080
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G |
Apc |
APC regulator of WNT signaling pathway |
|
ISO |
protein:increased expression:astrocyte |
RGD |
PMID:11547943 |
RGD:6484525 |
NCBI chr18:27,011,710...27,106,323
Ensembl chr18:27,047,382...27,105,531
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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 2:198,006,247...198,009,837
Ensembl chr 2:198,006,316...198,009,830
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G |
Aplp2 |
amyloid beta precursor like protein 2 |
|
IDA |
|
RGD |
PMID:8086458 |
RGD:734582 |
NCBI chr 8:32,298,526...32,328,821
Ensembl chr 8:32,298,532...32,328,839
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G |
Apoa1 |
apolipoprotein A1 |
resistance |
ISO |
DNA: : :transgenic model |
RGD |
PMID:20847045, PMID:19863188 |
RGD:5508212, RGD:5508218 |
NCBI chr 8:50,525,091...50,526,875
Ensembl chr 8:50,525,091...50,526,875
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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 8:50,536,983...50,539,371
Ensembl chr 8:50,537,009...50,539,376
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G |
Apoc1 |
apolipoprotein C1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29107063 PMID:30319691, PMID:11825674 |
RGD:1578472 |
NCBI chr 1:80,606,638...80,609,921
Ensembl chr 1:80,606,638...80,609,921
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G |
Apod |
apolipoprotein D |
|
ISO |
protein:increased expression:cerebrospinal fluid, hippocampus |
RGD |
PMID:9751198 |
RGD:2311209 |
NCBI chr11:72,705,204...72,726,263
Ensembl chr11:72,705,129...72,726,301
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G |
Apoe |
apolipoprotein E |
susceptibility treatment no_association |
ISO IEP |
ClinVar Annotator: match by term: Late onset Alzheimer disease 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 |
PMID:2987927 PMID:3922972 PMID:7263700 PMID:8346443 PMID:8618665 PMID:8644717 PMID:9343467 PMID:9932938 PMID:10213549 PMID:10799751 PMID:11835377 PMID:11940689 PMID:11940706 PMID:14741101 PMID:15048896 PMID:15184602 PMID:15326261 PMID:15557508 PMID:15668424 PMID:19605830 PMID:19734902 PMID:20819998 PMID:22381401 PMID:23060451 PMID:23296339 PMID:23571587 PMID:24033266 PMID:24162737 PMID:24473795 PMID:25741868 PMID:27023435 PMID:27260402 PMID:29107063 PMID:30319691 PMID:30320580 PMID:32376954, PMID:15118671, PMID:20574532, PMID:20088507, PMID:18057979, PMID:22020632, PMID:22020632, PMID:10027549 |
RGD:1331525, RGD:10427727, RGD:12904712, RGD:7771594, RGD:6903910, RGD:6903910, RGD:6903233 |
NCBI chr 1:80,612,894...80,616,820
Ensembl chr 1:80,612,895...80,617,057
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G |
App |
amyloid beta precursor protein |
susceptibility treatment |
ISO IDA IEP |
ClinVar Annotator: match by term: Alzheimer disease CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Early-Onset Familial Alzheimer Disease human transgene in rat model ClinVar Annotator: match by term: Alzheimer's disease associated with hypertension ClinVar Annotator: match by OMIM:104300 DNA:mutation:p.D678N (human) protein:increased expression:cerebral spinal fluid fluid,brain: protein:decreased expression:cerebrospinal fluid: ClinVar Annotator: match by term: Alzheimer disease, protection against |
ClinVar CTD |
PMID:1303239 PMID:1303275 PMID:1307241 PMID:1415269 PMID:1497677 PMID:1520398 PMID:1634237 PMID:1671712 PMID:1678057 PMID:1678058 PMID:1679288 PMID:1908231 PMID:1925564 PMID:7686976 PMID:7806491 PMID:7845465 PMID:8290965 PMID:8291572 PMID:8499923 PMID:8886002 PMID:9536098 PMID:9754958 PMID:9848098 PMID:10611368 PMID:10821838 PMID:11311152 PMID:11409420 PMID:11441013 PMID:11528419 PMID:11568920 PMID:11735772 PMID:11910111 PMID:11978821 PMID:12192006 PMID:12572668 PMID:12654973 PMID:12746438 PMID:12852432 PMID:15365148 PMID:15488330 PMID:15502844 PMID:15590663 PMID:15591071 PMID:15776278 PMID:15993441 PMID:16204253 PMID:16266835 PMID:16325427 PMID:16369530 PMID:16492752 PMID:16651627 PMID:16921174 PMID:16969627 PMID:17239395 PMID:17430250 PMID:17576681 PMID:18413473 PMID:18583042 PMID:19281847 PMID:19286555 PMID:19363265 PMID:19818510 PMID:20111991 PMID:20157255 PMID:20228223 PMID:20640797 PMID:21157020 PMID:21209907 PMID:21980910 PMID:22312439 PMID:22503161 PMID:22507317 PMID:22801501 PMID:23224319 PMID:23827522 PMID:24033266 PMID:24524897 PMID:24650794 PMID:24680827 PMID:24691562 PMID:24878480 PMID:25104557 PMID:25138979 PMID:25174650 PMID:25352456 PMID:25604855 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:28304299 PMID:28350801 PMID:28448946 PMID:28492532 PMID:29263818 PMID:29420472 PMID:29859640 PMID:30279455 PMID:30320580, PMID:16369530, PMID:17506994, PMID:30066400, PMID:29174383, PMID:29568075, PMID:29641600, PMID:15201367, PMID:11520987, PMID:11526104, PMID:1677459 |
RGD:1599199, RGD:2290385, RGD:13782183, RGD:13782049, RGD:13782047, RGD:13782044, RGD:10054280, RGD:1302530, RGD:10054258, RGD:10054257 |
NCBI chr11:24,425,013...24,641,872
Ensembl chr11:24,425,005...24,641,858
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G |
Aqp4 |
aquaporin 4 |
|
ISO |
|
RGD |
PMID:21107133 |
RGD:5148012 |
NCBI chr18:6,766,009...6,782,757
Ensembl chr18:6,765,945...6,782,996
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G |
Arc |
activity-regulated cytoskeleton-associated protein |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18503570 |
|
NCBI chr 7:115,907,097...115,911,059
Ensembl chr 7:115,907,097...115,910,541
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G |
Ass1 |
argininosuccinate synthase 1 |
|
ISO |
protein:increased expression:brain, glial cell (human) |
RGD |
PMID:11556547 |
RGD:4139898 |
NCBI chr 3:10,327,411...10,375,847
Ensembl chr 3:10,327,414...10,375,826
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G |
Atf2 |
activating transcription factor 2 |
|
ISO |
|
RGD |
PMID:9138733, PMID:15878807 |
RGD:10047399, RGD:10047400 |
NCBI chr 3:60,721,137...60,795,951
Ensembl chr 3:60,721,135...60,795,951
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|
G |
Atm |
ATM serine/threonine kinase |
disease_progression |
ISO |
|
RGD |
PMID:23861893 |
RGD:10047419 |
NCBI chr 8:58,015,938...58,119,973
Ensembl chr 8:58,015,940...58,120,045
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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 |
PMID:19374891, PMID:25561935, PMID:19374891 |
RGD:13703056, RGD:13703046 |
NCBI chr18:74,156,553...74,164,490
Ensembl chr18:74,156,553...74,164,495
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|
G |
Atp5f1d |
ATP synthase F1 subunit delta |
|
ISO |
|
RGD |
PMID:28474567 |
RGD:13792588 |
NCBI chr 7:12,426,807...12,432,120
Ensembl chr 7:12,426,809...12,432,130
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|
G |
Atp5mg |
ATP synthase membrane subunit g |
|
ISO |
|
RGD |
PMID:28474567 |
RGD:13792588 |
NCBI chr 8:49,220,441...49,227,273
Ensembl chr 8:49,220,443...49,227,273
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|
G |
Atp5pf |
ATP synthase peripheral stalk subunit F6 |
|
ISO |
ClinVar Annotator: match by term: Alzheimer's disease |
ClinVar |
PMID:16369530 PMID:16921174 PMID:24691562 |
|
NCBI chr11:24,286,806...24,294,419
Ensembl chr11:24,286,787...24,294,179
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|
G |
Atp5po |
ATP synthase peripheral stalk subunit OSCP |
treatment |
ISO |
|
RGD |
PMID:30266287, PMID:30266287 |
RGD:14696823, RGD:14696823 |
NCBI chr11:32,081,606...32,087,918
Ensembl chr11:32,081,574...32,088,002
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|
G |
Atp6v0e1 |
ATPase H+ transporting V0 subunit e1 |
|
ISO |
|
RGD |
PMID:23211594 |
RGD:10401913 |
NCBI chr10:16,769,857...16,792,930
Ensembl chr10:16,769,666...16,792,909
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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:77,076,085...77,193,644
Ensembl chr X:77,076,106...77,193,644
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|
G |
Atr |
ATR serine/threonine kinase |
|
ISO |
|
RGD |
PMID:23861893 |
RGD:10047419 |
NCBI chr 8:103,673,578...103,770,886
Ensembl chr 8:103,673,411...103,770,947
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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 8:50,140,092...50,162,388
Ensembl chr 8:50,139,997...50,162,361
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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 chr11:37,798,397...37,880,624
Ensembl chr11:37,798,370...37,880,821
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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 1:222,198,516...222,207,459
Ensembl chr 1:222,198,534...222,207,453
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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 chr10:109,107,326...109,187,458
Ensembl chr10:109,107,389...109,187,115
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|
G |
Bak1 |
BCL2-antagonist/killer 1 |
|
ISO |
protein:increased expression:temporal cortex, membrane |
RGD |
PMID:9507158 |
RGD:10053642 |
NCBI chr20:5,609,620...5,618,899
Ensembl chr20:5,609,625...5,618,260
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|
G |
Barhl1 |
BarH-like homeobox 1 |
|
ISO |
protein:decreased expression:brain |
RGD |
PMID:28956815 |
RGD:14390165 |
NCBI chr 3:7,491,234...7,498,555
Ensembl chr 3:7,491,234...7,498,555
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|
G |
Bax |
BCL2 associated X, apoptosis regulator |
treatment |
IEP ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18077176, PMID:17639989, PMID:29587274, PMID:29777699, PMID:21585051, PMID:16265626, PMID:8990132 |
RGD:2293073, RGD:13782188, RGD:13782186, RGD:10054049, RGD:10054047, RGD:10054039 |
NCBI chr 1:101,451,801...101,457,207
Ensembl chr 1:101,451,802...101,457,207
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|
G |
Bcan |
brevican |
|
ISO |
protein:altered modification:brain |
RGD |
PMID:20180882 |
RGD:14392785 |
NCBI chr 2:187,359,674...187,373,133
Ensembl chr 2:187,359,677...187,372,657
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|
G |
Bche |
butyrylcholinesterase |
severity |
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23022600, PMID:22012848, PMID:16973370 |
RGD:5687327, RGD:5688056 |
NCBI chr 2:171,104,476...171,196,186
Ensembl chr 2:171,100,140...171,196,395
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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 |
PMID:18077176, PMID:17639989, PMID:29587274, PMID:29777699, PMID:26897372, PMID:21585051, PMID:16265626, PMID:9507158 |
RGD:2293073, RGD:13782188, RGD:13782186, RGD:11522767, RGD:10054049, RGD:10054047, RGD:10053642 |
NCBI chr13:26,605,426...26,769,374
Ensembl chr13:26,605,426...26,769,374
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G |
Bcl2l1 |
Bcl2-like 1 |
|
ISO |
protein:increased expression:temporal cortex, membrane |
RGD |
PMID:9507158 |
RGD:10053642 |
NCBI chr 3:148,259,594...148,314,191
Ensembl chr 3:148,259,596...148,313,810
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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 chr15:33,543,774...33,549,165
Ensembl chr15:33,544,312...33,549,164
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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 |
PMID:17344400, PMID:20646587, PMID:24877042, PMID:16565926, PMID:23215636, PMID:16627933, PMID:12654514, PMID:18780967, PMID:15118671 |
RGD:4891131, RGD:10059402, RGD:10059346, RGD:10059345, RGD:10059343, RGD:10058980, RGD:5508228, RGD:1331525 |
NCBI chr 3:100,768,637...100,819,216
Ensembl chr 3:100,768,637...100,819,210
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G |
Becn1 |
beclin 1 |
|
ISO |
protein:decreased expression:gray matter |
RGD |
PMID:18497889, PMID:20863706 |
RGD:6483101, RGD:6483102 |
NCBI chr10:89,209,944...89,225,297
Ensembl chr10:89,209,940...89,225,297
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G |
Bin1 |
bridging integrator 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21460841 |
|
NCBI chr18:25,163,575...25,222,139
Ensembl chr18:25,163,561...25,222,135
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G |
Bmp4 |
bone morphogenetic protein 4 |
|
ISO |
|
RGD |
PMID:19463786 |
RGD:10414082 |
NCBI chr15:20,776,060...20,791,013
Ensembl chr15:20,776,054...20,822,740
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G |
Bptf |
bromodomain PHD finger transcription factor |
|
ISO |
protein:increased expression:microglia: |
RGD |
PMID:9792236 |
RGD:9586059 |
NCBI chr10:95,248,573...95,350,162
Ensembl chr10:95,250,294...95,349,789
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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 chr10:73,507,009...73,632,742
Ensembl chr10:73,507,100...73,629,581
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|
G |
Btg3 |
BTG anti-proliferation factor 3 |
|
ISO |
ClinVar Annotator: match by term: Alzheimer's disease |
ClinVar |
PMID:16369530 PMID:16921174 PMID:24691562 |
|
NCBI chr11:16,873,642...16,889,100
Ensembl chr11:16,873,646...16,889,201
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G |
C1qb |
complement C1q B chain |
|
ISO |
mRNA:increased expression:microglial cell |
RGD |
PMID:1362796 |
RGD:1599518 |
NCBI chr 5:155,246,444...155,251,995
Ensembl chr 5:155,246,447...155,252,003
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G |
C2 |
complement C2 |
|
ISO |
DNA:SNP, haplotype: :p.E318D (rs9332739) (human) |
RGD |
PMID:22300950 |
RGD:7401250 |
NCBI chr20:4,542,340...4,561,152
Ensembl chr20:4,542,340...4,561,152
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|
G |
C3 |
complement C3 |
|
ISO |
DNA:SNP: :rs22300199 (human) |
RGD |
PMID:22300950 |
RGD:7401250 |
NCBI chr 9:9,721,137...9,747,084
Ensembl chr 9:9,721,105...9,747,167
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|
G |
C5ar1 |
complement C5a receptor 1 |
|
ISO |
protein:decreased expression:brain |
RGD |
PMID:12759460 |
RGD:5130177 |
NCBI chr 1:78,186,777...78,195,132
Ensembl chr 1:78,186,776...78,195,328
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|
G |
Cacna1c |
calcium voltage-gated channel subunit alpha1 C |
|
ISO |
protein:decreased expression:brain |
RGD |
PMID:23403102 |
RGD:13782264 |
NCBI chr 4:150,635,808...151,270,790
Ensembl chr 4:150,641,066...150,829,913
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G |
Calm1 |
calmodulin 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism protein:decreased expression:cerebellar cortex: |
CTD |
PMID:11470324, PMID:11470324 |
RGD:13792493 |
NCBI chr 6:124,217,241...124,225,292
Ensembl chr 6:124,217,241...124,225,292
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|
G |
Calml5 |
calmodulin-like 5 |
|
ISO |
protein:altered expression:neuron,glia |
RGD |
PMID:11470324 |
RGD:13792493 |
NCBI chr17:70,044,956...70,045,886
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|
G |
Camk2a |
calcium/calmodulin-dependent protein kinase II alpha |
|
ISO |
|
RGD |
PMID:15621017 |
RGD:13681926 |
NCBI chr18:56,193,978...56,295,869
Ensembl chr18:56,193,978...56,295,869
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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 1:221,346,081...221,370,965
Ensembl chr 1:221,346,066...221,370,322
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G |
Capn2 |
calpain 2 |
|
ISO |
protein:increased expression:cytosol |
RGD |
PMID:9654354 |
RGD:13792661 |
NCBI chr13:100,878,649...100,928,811
Ensembl chr13:100,878,650...100,928,811
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|
G |
Casp1 |
caspase 1 |
|
ISO |
|
RGD |
PMID:12633148 |
RGD:13782269 |
NCBI chr 8:2,605,743...2,614,637
Ensembl chr 8:2,604,962...2,614,631
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|
G |
Casp12 |
caspase 12 |
treatment |
IEP |
|
RGD |
PMID:29126976 |
RGD:13782165 |
NCBI chr 8:2,658,892...2,686,160
Ensembl chr 8:2,659,865...2,686,160
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|
G |
Casp2 |
caspase 2 |
|
ISO |
|
RGD |
PMID:12633148 |
RGD:13782269 |
NCBI chr 4:71,652,358...71,670,228
Ensembl chr 4:71,652,354...71,670,239
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|
G |
Casp3 |
caspase 3 |
treatment |
ISO IEP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18077176, PMID:10319819, PMID:29642617, PMID:12633148, PMID:29587274, PMID:29777699 |
RGD:734692, RGD:13782291, RGD:13782269, RGD:13782188, RGD:13782186 |
NCBI chr16:48,845,011...48,863,249
Ensembl chr16:48,845,012...48,863,204
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G |
Casp6 |
caspase 6 |
|
ISO |
|
RGD |
PMID:12633148 |
RGD:13782269 |
NCBI chr 2:235,341,326...235,353,715
Ensembl chr 2:235,341,365...235,353,967 Ensembl chr 2:235,341,365...235,353,967
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|
G |
Casp7 |
caspase 7 |
|
ISO |
DNA:SNPs, haplotype |
RGD |
PMID:26621834, PMID:12633148 |
RGD:11344490, RGD:13782269 |
NCBI chr 1:277,190,557...277,242,779
Ensembl chr 1:277,190,964...277,242,774
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|
G |
Casp8 |
caspase 8 |
treatment |
ISO IEP |
|
RGD |
PMID:16772874, PMID:29642617, PMID:12633148 |
RGD:13782268, RGD:13782291, RGD:13782269 |
NCBI chr 9:65,614,142...65,662,624
Ensembl chr 9:65,614,142...65,662,106
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|
G |
Casp9 |
caspase 9 |
treatment |
IEP ISO |
|
RGD |
PMID:29777699, PMID:12633148 |
RGD:13782186, RGD:13782269 |
NCBI chr 5:160,356,211...160,373,774
Ensembl chr 5:160,355,833...160,373,778
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|
G |
Cass4 |
Cas scaffold protein family member 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30320580 |
|
NCBI chr 3:170,398,496...170,438,381
Ensembl chr 3:170,399,302...170,438,993
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|
G |
Cast |
calpastatin |
|
ISO |
protein:decreased expression:brain |
RGD |
PMID:20595388, PMID:19020018 |
RGD:5509799, RGD:5509809 |
NCBI chr 2:1,452,111...1,561,669
Ensembl chr 2:1,452,116...1,561,464
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G |
Cav1 |
caveolin 1 |
|
ISS |
OMIM:104300 | OMIM:502500 | OMIM:604154 | OMIM:608907 |
MouseDO |
|
|
NCBI chr 4:44,597,123...44,630,206
Ensembl chr 4:44,597,123...44,630,200
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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 chr10:70,739,764...70,744,303
Ensembl chr10:70,739,800...70,744,315
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G |
Ccng1 |
cyclin G1 |
|
ISO |
protein:increased expression:brain, neuron |
RGD |
PMID:12214116 |
RGD:2316025 |
NCBI chr10:25,903,925...25,910,298
Ensembl chr10:25,903,911...25,910,325
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|
G |
Ccr1 |
C-C motif chemokine receptor 1 |
severity |
ISO |
|
RGD |
PMID:14595653 |
RGD:5688166 |
NCBI chr 8:132,996,646...133,002,201
Ensembl chr 8:132,996,649...133,002,201
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|
G |
Ccr5 |
C-C motif chemokine receptor 5 |
|
ISO IMP |
protein:increased expression:brain, microglia (human) |
RGD |
PMID:9665462, PMID:15979806 |
RGD:4890447, RGD:4890446 |
NCBI chr 8:133,192,398...133,215,599
Ensembl chr 8:133,197,032...133,215,614
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|
G |
Cd2ap |
CD2-associated protein |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21460840 PMID:21460841 PMID:30320580 |
|
NCBI chr 9:20,794,680...20,858,438
Ensembl chr 9:20,765,296...20,858,504
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|
G |
Cd33 |
CD33 molecule |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21460840 PMID:21460841 |
|
NCBI chr 1:98,388,811...98,403,539
Ensembl chr 1:98,398,660...98,402,968
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|
G |
Cd36 |
CD36 molecule |
|
ISO |
|
RGD |
PMID:16563568 |
RGD:6893531 |
NCBI chr 4:14,150,309...14,191,498
Ensembl chr 4:14,001,761...14,249,749
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|
G |
Cd40 |
CD40 molecule |
|
ISO |
|
RGD |
PMID:21414686 |
RGD:5490302 |
NCBI chr 3:161,519,789...161,534,943
Ensembl chr 3:161,519,743...161,534,704
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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:159,703,703...159,714,886
Ensembl chr X:159,703,578...159,716,562
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|
G |
Cdc42 |
cell division cycle 42 |
|
ISO |
|
RGD |
PMID:10817927 |
RGD:5688277 |
NCBI chr 5:155,690,267...155,728,385
Ensembl chr 5:155,691,390...155,728,300
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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 4:7,282,945...7,287,427
Ensembl chr 4:7,282,948...7,288,383
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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 chr10:67,862,054...67,863,255
Ensembl chr10:67,862,054...67,863,255
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|
G |
Cdk7 |
cyclin-dependent kinase 7 |
|
ISO |
protein:increased expression:neuron: |
RGD |
PMID:11124424 |
RGD:10059352 |
NCBI chr 2:30,710,642...30,735,522
Ensembl chr 2:30,710,643...30,735,514
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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 1:91,363,492...91,366,164
Ensembl chr 1:91,363,492...91,366,164
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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 3:164,424,502...164,425,933
Ensembl chr 3:164,424,515...164,425,910
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G |
Cftr |
CF transmembrane conductance regulator |
|
ISO |
protein:decreased expression:hypothalamus |
RGD |
PMID:14757935 |
RGD:11566025 |
NCBI chr 4:42,693,263...42,860,679
Ensembl chr 4:42,692,836...42,860,676
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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 chr16:8,576,858...8,686,131
Ensembl chr16:8,577,840...8,686,131
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|
G |
Chodl |
chondrolectin |
|
ISO |
ClinVar Annotator: match by term: Alzheimer's disease |
ClinVar |
PMID:16369530 PMID:16921174 PMID:24691562 |
|
NCBI chr11:17,537,980...17,560,305
Ensembl chr11:17,538,063...17,560,296
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|
G |
Chrna4 |
cholinergic receptor nicotinic alpha 4 subunit |
|
ISO |
|
RGD |
PMID:15465084 |
RGD:1358509 |
NCBI chr 3:176,533,182...176,547,965
Ensembl chr 3:176,527,516...176,548,208
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|
G |
Chrna7 |
cholinergic receptor nicotinic alpha 7 subunit |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18071042, PMID:15465084 |
RGD:1358509 |
NCBI chr 1:123,897,341...124,039,263
Ensembl chr 1:123,899,657...124,039,196
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G |
Chrnb2 |
cholinergic receptor nicotinic beta 2 subunit |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17192785 |
|
NCBI chr 2:189,088,570...189,096,785
Ensembl chr 2:189,088,570...189,096,785
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|
G |
Cib1 |
calcium and integrin binding 1 |
|
IEP |
protein:decreased expression:brain (human) |
RGD |
PMID:15885068 |
RGD:10401854 |
NCBI chr 1:142,014,962...142,020,461
Ensembl chr 1:142,014,958...142,020,525
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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 chr14:34,418,226...34,502,218
Ensembl chr14:34,446,616...34,502,218
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|
G |
Clu |
clusterin |
|
ISO |
ClinVar Annotator: match by term: Alzheimer's disease CTD Direct Evidence: marker/mechanism |
ClinVar CTD |
PMID:19734902 PMID:19734903 PMID:21460841 PMID:28492532 PMID:29476165, PMID:9560017 |
RGD:8903235 |
NCBI chr15:42,626,612...42,665,858
Ensembl chr15:42,640,146...42,665,857
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|
G |
Cnp |
2',3'-cyclic nucleotide 3' phosphodiesterase |
|
ISO |
|
RGD |
PMID:21918687 |
RGD:6483333 |
NCBI chr10:88,490,798...88,497,357
Ensembl chr10:88,490,798...88,497,356
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G |
Cox7c |
cytochrome c oxidase subunit 7C |
|
ISO |
|
RGD |
PMID:28474567 |
RGD:13792588 |
NCBI chr 2:14,699,878...14,701,903
Ensembl chr 2:14,699,882...14,701,903
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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 chr10:11,590,994...11,721,039
Ensembl chr10:11,595,044...11,721,039
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|
G |
Crh |
corticotropin releasing hormone |
|
ISO |
protein:decreased expression:cerebral cortex (human) CTD Direct Evidence: therapeutic |
CTD |
PMID:7477348, PMID:7477348 |
RGD:5508831 |
NCBI chr 2:104,459,999...104,461,863
Ensembl chr 2:104,459,999...104,461,863
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G |
Crp |
C-reactive protein |
|
ISO |
|
RGD |
PMID:22202667 |
RGD:6904208 |
NCBI chr13:91,080,448...91,081,358
Ensembl chr13:91,054,974...91,093,713
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G |
Csf1r |
colony stimulating factor 1 receptor |
|
ISO |
ClinVar Annotator: match by term: Alzheimer's disease |
ClinVar |
PMID:30279455 |
|
NCBI chr18:56,414,493...56,458,300
Ensembl chr18:56,414,488...56,458,300
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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 chr18:56,887,722...56,910,610
Ensembl chr18:56,887,354...56,918,345
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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 chr10:110,147,786...110,182,413
Ensembl chr10:110,148,600...110,182,408
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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 7:120,651,976...120,675,559
Ensembl chr 7:120,651,881...120,672,359
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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 |
PMID:17192785 PMID:18026100, PMID:18824671, PMID:15907478 |
RGD:2314333, RGD:1358533 |
NCBI chr 3:143,219,671...143,223,544
Ensembl chr 3:143,219,686...143,223,615
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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 8:129,601,511...129,628,378
Ensembl chr 8:129,617,812...129,627,372
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G |
Ctsd |
cathepsin D |
|
ISO |
|
RGD |
PMID:11304834 |
RGD:1358532 |
NCBI chr 1:215,541,570...215,553,446
Ensembl chr 1:215,541,542...215,553,451
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G |
Ctss |
cathepsin S |
|
ISO |
|
RGD |
PMID:7717452 |
RGD:5686914 |
NCBI chr 2:197,655,780...197,679,768
Ensembl chr 2:197,655,786...197,679,458
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G |
Cxadr |
CXADR, Ig-like cell adhesion molecule |
|
ISO |
ClinVar Annotator: match by term: Alzheimer's disease |
ClinVar |
PMID:16369530 PMID:16921174 PMID:24691562 |
|
NCBI chr11:16,826,269...16,873,564
Ensembl chr11:16,826,399...16,873,562
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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 8:58,744,849...58,772,408
Ensembl chr 8:58,744,849...58,772,408
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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 7:123,599,264...123,608,436
Ensembl chr 7:123,599,266...123,608,436
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G |
Cyp46a1 |
cytochrome P450, family 46, subfamily a, polypeptide 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19286353, PMID:12232784 |
RGD:1358575 |
NCBI chr 6:132,242,328...132,273,788
Ensembl chr 6:132,242,328...132,273,787
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G |
Cyyr1 |
cysteine and tyrosine rich 1 |
|
ISO |
ClinVar Annotator: match by term: Alzheimer's disease |
ClinVar |
PMID:16369530 PMID:16921174 PMID:24691562 |
|
NCBI chr11:24,967,936...25,078,740
Ensembl chr11:24,967,937...25,078,740
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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 chr17:9,679,511...9,693,878
Ensembl chr17:9,679,628...9,693,820
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G |
Dhcr24 |
24-dehydrocholesterol reductase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23042211 |
|
NCBI chr 5:126,164,708...126,188,926
Ensembl chr 5:126,164,674...126,191,206
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G |
Dlg4 |
discs large MAGUK scaffold protein 4 |
|
ISO |
|
RGD |
PMID:24156266 |
RGD:13792688 |
NCBI chr10:56,625,845...56,655,543
Ensembl chr10:56,627,411...56,653,599
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G |
Dlst |
dihydrolipoamide S-succinyltransferase |
susceptibility |
ISO |
DNA:polymorphisms: : |
RGD |
PMID:10227647 |
RGD:1358587 |
NCBI chr 6:108,936,534...108,961,322
Ensembl chr 6:108,936,664...108,959,803
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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 3:11,338,081...11,382,043
Ensembl chr 3:11,338,083...11,382,043
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G |
Dnm1l |
dynamin 1-like |
|
ISO |
protein:decreased expression:hippocampus (human) |
RGD |
PMID:19605646 |
RGD:7800727 |
NCBI chr11:88,830,968...88,882,271
Ensembl chr11:88,830,957...88,880,198
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G |
Dpysl2 |
dihydropyrimidinase-like 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19374891 |
|
NCBI chr15:43,475,640...43,581,725
Ensembl chr15:43,477,629...43,542,939
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G |
Drd1 |
dopamine receptor D1 |
|
ISO |
protein:decreased expression:frontal cortex, neuron |
RGD |
PMID:17182012 |
RGD:5686412 |
NCBI chr17:11,099,736...11,104,352
Ensembl chr17:11,101,306...11,103,541
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G |
Drd2 |
dopamine receptor D2 |
|
ISO |
protein:decreased expression:blood, lymphocyte |
RGD |
PMID:11087905 |
RGD:5686416 |
NCBI chr 8:53,678,777...53,743,643
Ensembl chr 8:53,678,777...53,743,642
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G |
Drd3 |
dopamine receptor D3 |
|
ISO |
protein:decreased expression:frontal cortex, neuron |
RGD |
PMID:17182012 |
RGD:5686412 |
NCBI chr11:61,819,102...61,883,223
Ensembl chr11:61,822,077...61,874,327
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G |
Drd4 |
dopamine receptor D4 |
|
ISO |
protein:decreased expression:frontal cortex, neuron |
RGD |
PMID:17182012 |
RGD:5686412 |
NCBI chr 1:214,278,296...214,282,818
Ensembl chr 1:214,278,296...214,281,483
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G |
Drd5 |
dopamine receptor D5 |
|
ISO |
protein:increased expression:frontal cortex, neuron |
RGD |
PMID:17182012 |
RGD:5686412 |
NCBI chr14:77,220,579...77,222,006
Ensembl chr14:77,220,579...77,222,006
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G |
Dync1h1 |
dynein cytoplasmic 1 heavy chain 1 |
|
ISO |
protein:increased expression:brain |
RGD |
PMID:9402150 |
RGD:13207349 |
NCBI chr 6:134,958,854...135,085,769
Ensembl chr 6:134,958,854...135,085,769
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G |
E2f1 |
E2F transcription factor 1 |
|
ISO |
protein:increased expression:cerebral cortex,cytoplasm: |
RGD |
PMID:11939591 |
RGD:10401093 |
NCBI chr 3:150,062,895...150,073,721
Ensembl chr 3:150,047,826...150,073,721
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G |
Ece1 |
endothelin converting enzyme 1 |
|
ISO |
|
RGD |
PMID:15340356 |
RGD:1580902 |
NCBI chr 5:156,215,469...156,318,652
Ensembl chr 5:156,215,417...156,318,671
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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 3:176,657,104...176,666,282
Ensembl chr 3:176,657,107...176,666,282
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G |
Eef2 |
eukaryotic translation elongation factor 2 |
|
ISO |
protein:hyperphosphorylation:brain: |
RGD |
PMID:1331687 |
RGD:10401652 |
NCBI chr 7:11,401,501...11,406,771
Ensembl chr 7:11,401,501...11,406,771
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G |
Eef2k |
eukaryotic elongation factor-2 kinase |
|
ISO |
|
RGD |
PMID:16098202 |
RGD:10401651 |
NCBI chr 1:190,780,211...190,839,926
Ensembl chr 1:190,780,236...190,842,324
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G |
Egf |
epidermal growth factor |
|
ISO |
protein:decreased expression:platelet |
RGD |
PMID:21875409 |
RGD:10059680 |
NCBI chr 2:68,820,616...68,895,537
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G |
Egfr |
epidermal growth factor receptor |
treatment |
ISO |
|
RGD |
PMID:23019586 |
RGD:10059684 |
NCBI chr14:99,919,485...100,104,136
Ensembl chr14:99,919,485...100,098,796
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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 chr18:27,657,903...27,660,101
Ensembl chr18:27,657,628...27,661,429
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G |
Eif2ak2 |
eukaryotic translation initiation factor 2-alpha kinase 2 |
|
ISO |
protein:increased threonine phosphorylation:hippocampus |
RGD |
PMID:24315369, PMID:15567511 |
RGD:10395344, RGD:10395348 |
NCBI chr 6:1,428,845...1,466,193
Ensembl chr 6:1,428,834...1,466,201
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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 |
PMID:17406652, PMID:16691116, PMID:24315369, PMID:16954686 |
RGD:10395316, RGD:10395344, RGD:10395343 |
NCBI chr 6:102,048,372...102,073,041
Ensembl chr 6:102,048,372...102,073,041
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G |
Elk1 |
ETS transcription factor ELK1 |
|
ISO |
|
RGD |
PMID:20126313 |
RGD:7488914 |
NCBI chr X:1,287,875...1,304,822
Ensembl chr X:1,297,099...1,304,822
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G |
Eno1 |
enolase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism protein:increased S-glutathionylation, decreased activity:inferior parietal cortex |
CTD |
PMID:19374891, PMID:17387692 |
RGD:13792613 |
NCBI chr 5:167,288,223...167,299,610
Ensembl chr 5:167,288,223...167,299,609
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G |
Ep300 |
E1A binding protein p300 |
|
ISO |
mRNA:increased expression:temporal cortex (human) |
RGD |
PMID:23585551 |
RGD:7327146 |
NCBI chr 7:122,818,194...122,889,055
Ensembl chr 7:122,818,975...122,861,296
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G |
Epha1 |
Eph receptor A1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21460840 PMID:21460841 |
|
NCBI chr 4:71,749,100...71,763,681
Ensembl chr 4:71,749,242...71,763,679
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G |
Epha4 |
Eph receptor A4 |
|
ISO |
protein:decreased expression:hippocampus |
RGD |
PMID:19542617, PMID:19542617 |
RGD:6218956, RGD:6218956 |
NCBI chr 9:83,111,222...83,253,486
Ensembl chr 9:83,111,222...83,253,458
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G |
Ephx1 |
epoxide hydrolase 1 |
|
ISO |
protein:increased expression:hippocampus |
RGD |
PMID:16630050 |
RGD:5688388 |
NCBI chr13:99,271,390...99,300,580
Ensembl chr13:99,271,366...99,300,579
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G |
Epo |
erythropoietin |
treatment |
ISO |
|
RGD |
PMID:22004348, PMID:23813967 |
RGD:10395389, RGD:10400882 |
NCBI chr12:22,274,828...22,278,268
Ensembl chr12:22,274,828...22,278,266
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G |
Epor |
erythropoietin receptor |
|
ISO |
protein:increased expression:brain, astrocyte |
RGD |
PMID:17483696 |
RGD:10395387 |
NCBI chr 8:22,969,737...22,974,468
Ensembl chr 8:22,969,745...22,974,321
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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 1:80,293,574...80,307,334
Ensembl chr 1:80,293,566...80,307,344
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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 chr18:25,037,668...25,068,380
Ensembl chr18:25,037,625...25,068,389
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G |
Esr1 |
estrogen receptor 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17192785, PMID:10558867 |
RGD:1358612 |
NCBI chr 1:41,192,029...41,594,799
Ensembl chr 1:41,192,824...41,594,796
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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 6:99,163,953...99,214,711
Ensembl chr 6:99,164,357...99,214,251
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G |
F2 |
coagulation factor II |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:8333868 |
|
NCBI chr 3:80,529,468...80,542,993
Ensembl chr 3:80,529,428...80,543,031
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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 5:148,528,854...148,535,597
Ensembl chr 5:148,528,725...148,535,565
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G |
Fadd |
Fas associated via death domain |
|
ISO |
|
RGD |
PMID:16085017 |
RGD:13782385 |
NCBI chr 1:217,746,176...217,748,581
Ensembl chr 1:217,742,929...217,748,628
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G |
Fas |
Fas cell surface death receptor |
|
ISO |
DNA:snp:promoter:g.-670G>A (human) protein:increased expression:brain, plaque (human) |
RGD |
PMID:11129341, PMID:12742739 |
RGD:1358615, RGD:8663481 |
NCBI chr 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790
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G |
Fgf1 |
fibroblast growth factor 1 |
|
ISO |
|
RGD |
PMID:20079650 |
RGD:5509878 |
NCBI chr18:32,273,830...32,359,831
Ensembl chr18:32,273,770...32,359,824
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G |
Fgfr1 |
Fibroblast growth factor receptor 1 |
|
ISO |
|
RGD |
PMID:9748519 |
RGD:10402073 |
NCBI chr16:71,265,390...71,319,046
Ensembl chr16:71,266,248...71,319,449
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G |
Fis1 |
fission, mitochondrial 1 |
|
ISO |
protein:increased expression:hippocampus (human) |
RGD |
PMID:19605646 |
RGD:7800727 |
NCBI chr12:22,750,485...22,765,324
Ensembl chr12:22,750,485...22,765,308
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|
G |
Foxo3 |
forkhead box O3 |
|
ISO |
protein:increased expression:lymphoblast,nucleus: mRNA:increased expression:brain: protein:altered expression:cortical neuron,nucleus: |
RGD |
PMID:23153928, PMID:23585551, PMID:23661003 |
RGD:10402185, RGD:7327146, RGD:10402187 |
NCBI chr20:46,428,078...46,519,156
Ensembl chr20:46,428,124...46,519,144
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G |
Fxyd6 |
FXYD domain-containing ion transport regulator 6 |
|
ISO |
|
RGD |
PMID:19760337 |
RGD:13801191 |
NCBI chr 8:49,676,520...49,703,419
Ensembl chr 8:49,676,540...49,703,419
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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 chr20:44,436,354...44,630,316
Ensembl chr20:44,436,403...44,630,317
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|
G |
Gabpa |
GA binding protein transcription factor subunit alpha |
|
ISO |
ClinVar Annotator: match by term: Alzheimer's disease |
ClinVar |
PMID:16369530 PMID:16921174 PMID:24691562 |
|
NCBI chr11:24,293,845...24,322,822
Ensembl chr11:24,263,281...24,322,815
|
|
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 |
RGD:1358618, RGD:13792614, RGD:13792614, RGD:13792613, RGD:13792612, RGD:13792611, RGD:13792604 |
NCBI chr 4:157,676,336...157,680,322
Ensembl chr 4:157,676,595...157,679,962
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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 |
PMID:17192785, PMID:15507493 |
RGD:1358618 |
NCBI chr 1:89,180,063...89,195,347
Ensembl chr 1:89,180,063...89,194,602
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G |
Gcg |
glucagon |
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ISO |
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RGD |
PMID:23035082 |
RGD:10402366 |
NCBI chr 3:48,442,635...48,451,650
Ensembl chr 3:48,442,635...48,451,650
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G |
Gdnf |
glial cell derived neurotrophic factor |
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ISO |
mRNA, protein:alternate form, decreased expression:brain |
RGD |
PMID:22081608 |
RGD:5688777 |
NCBI chr 2:56,884,181...56,912,964
Ensembl chr 2:56,887,987...56,910,238
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G |
Ghrh |
growth hormone releasing hormone |
treatment |
ISO |
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RGD |
PMID:23211425 |
RGD:10401233 |
NCBI chr 3:153,449,124...153,468,794
Ensembl chr 3:153,449,125...153,468,794
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G |
Glud1 |
glutamate dehydrogenase 1 |
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ISO |
protein:increased expression:brain protein:increased expression, decreased oxidation:brain |
RGD |
PMID:16341942, PMID:16298240 |
RGD:6484555, RGD:6484556 |
NCBI chr16:10,661,486...10,695,557
Ensembl chr16:10,662,021...10,695,557
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G |
Glul |
glutamate-ammonia ligase |
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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 chr13:71,331,052...71,340,207
Ensembl chr13:71,331,052...71,340,229
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G |
Gnas |
GNAS complex locus |
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ISO |
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RGD |
PMID:8012802 |
RGD:10401266 |
NCBI chr 3:172,374,957...172,434,988
Ensembl chr 3:172,374,957...172,428,483 Ensembl chr 3:172,374,957...172,428,483
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G |
Grin1 |
glutamate ionotropic receptor NMDA type subunit 1 |
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ISO |
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RGD |
PMID:24156266 |
RGD:13792688 |
NCBI chr 3:2,507,745...2,534,664
Ensembl chr 3:2,506,896...2,534,663
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G |
Grin2a |
glutamate ionotropic receptor NMDA type subunit 2A |
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ISO |
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RGD |
PMID:24156266 |
RGD:13792688 |
NCBI chr10:5,707,806...6,123,568
Ensembl chr10:5,930,298...6,119,990
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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 |
RGD:13792688, RGD:13792714, RGD:13792713, RGD:13792713, RGD:13792709, RGD:13792709 |
NCBI chr 4:169,541,620...170,000,216
Ensembl chr 4:169,560,387...169,999,873
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G |
Grk5 |
G protein-coupled receptor kinase 5 |
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ISO |
DNA: deletion: exons 7,8: heterozygote |
RGD |
PMID:18522748 |
RGD:5688375 |
NCBI chr 1:282,265,371...282,467,842
Ensembl chr 1:282,265,370...282,462,605
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G |
Grn |
granulin precursor |
severity onset |
ISO |
DNA:SNP:3'UTR:rs5848(human) ClinVar Annotator: match by term: Alzheimer's disease DNA:SNPs: :rs5848, rs850713, rs4792939 (human) DNA:mutations: : mRNA, protein:increased expression:microglia, neuron: DNA:deletion:exon:c.154delA(human) |
ClinVar |
PMID:30279455, PMID:20197700, PMID:19016491, PMID:18565828, PMID:19557827, PMID:20142525 |
RGD:5509600, RGD:10401636, RGD:5509616, RGD:5509606, RGD:5509601 |
NCBI chr10:90,377,103...90,383,207
Ensembl chr10:90,376,933...90,383,205
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G |
Gsk3a |
glycogen synthase kinase 3 alpha |
treatment |
ISO |
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RGD |
PMID:18410522, PMID:22623685 |
RGD:10401797, RGD:10401801 |
NCBI chr 1:82,097,244...82,108,238
Ensembl chr 1:82,097,247...82,108,203
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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 |
PMID:17409235 PMID:22944069, PMID:11226152, PMID:29257340, PMID:27893738, PMID:19154537, PMID:22623685, PMID:22982863, PMID:22048123, PMID:24101602 |
RGD:1302533, RGD:13792777, RGD:13792736, RGD:13782364, RGD:10401801, RGD:10045670, RGD:10045669, RGD:10045668 |
NCBI chr11:65,060,884...65,208,842
Ensembl chr11:65,066,235...65,209,268
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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 chr16:62,197,617...62,239,987
Ensembl chr16:62,197,617...62,241,361
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G |
Gss |
glutathione synthetase |
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ISO |
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RGD |
PMID:15693022 |
RGD:5508441 |
NCBI chr 3:151,076,254...151,106,557
Ensembl chr 3:151,076,254...151,106,557
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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 2:210,685,204...210,688,273
Ensembl chr 2:210,685,197...210,688,272
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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 2:210,685,338...210,688,133
Ensembl chr 2:210,685,197...210,688,272
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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 1:267,607,437...267,617,387
Ensembl chr 1:267,607,418...267,617,387
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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 1:267,617,517...267,640,455
Ensembl chr 1:271,229,036...271,243,517 Ensembl chr 1:271,229,036...271,243,517
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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 1:219,291,679...219,294,147
Ensembl chr 1:219,291,679...219,294,147
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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 chr20:13,799,102...13,816,527
Ensembl chr20:13,799,102...13,816,526
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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 2:180,976,939...181,026,001
Ensembl chr 2:180,976,939...181,026,024
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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 6:27,589,840...27,628,921
Ensembl chr 6:27,589,657...27,629,175
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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 6:27,555,408...27,589,539
Ensembl chr 6:27,555,412...27,582,995
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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 chr10:15,602,794...15,603,649
Ensembl chr10:15,602,794...15,603,649
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G |
Hdac2 |
histone deacetylase 2 |
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ISO |
protein:increased expression:hippocampus: |
RGD |
PMID:22388814 |
RGD:9590324 |
NCBI chr20:43,084,870...43,108,198
Ensembl chr20:43,084,870...43,108,198
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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 |
PMID:678784 PMID:8696333 PMID:8896549 PMID:8896550 PMID:8931958 PMID:8943161 PMID:9024376 PMID:9106528 PMID:9138148 PMID:9162021 PMID:9211748 PMID:9321765 PMID:9326341 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:10660483 PMID:11336458 PMID:11358905 PMID:11399207 PMID:11423500 PMID:11479183 PMID:11532995 PMID:11812557 PMID:11874997 PMID:11904676 PMID:12241803 PMID:12377814 PMID:12429850 PMID:12436244 PMID:12885340 PMID:12915468 PMID:14618419 PMID:14673107 PMID:14729817 PMID:15060098 PMID:15070663 PMID:15254010 PMID:15280838 PMID:15347835 PMID:15858186 PMID:16132052 PMID:16879202 PMID:17047092 PMID:17389307 PMID:17450498 PMID:17600748 PMID:17828789 PMID:18199861 PMID:18499578 PMID:18504828 PMID:18566337 PMID:19084217 PMID:19159930 PMID:19444013 PMID:19554541 PMID:19560233 PMID:19681031 PMID:20107990 PMID:20301613 PMID:21243428 PMID:21349849 PMID:21452290 PMID:22531912 PMID:23429074 PMID:24033266 PMID:24729993 PMID:25457201 PMID:25741868 PMID:25741869 PMID:25850353 PMID:26153218 PMID:26365338 PMID:27124787 PMID:27173269 PMID:28443246 PMID:28492532 PMID:28617828 PMID:29404719 PMID:30291871 PMID:31220083 PMID:31980526 PMID:32153640, PMID:15060098 |
RGD:1358657 |
NCBI chr17:43,661,276...43,669,327
Ensembl chr17:43,661,222...43,669,985
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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 6:96,810,868...96,856,303
Ensembl chr 6:96,810,907...96,856,052
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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 chr12:7,082,529...7,090,246
Ensembl chr16:37,500,017...37,502,237
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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 2:27,480,224...27,500,654
Ensembl chr 2:27,480,226...27,500,654
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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 |
PMID:11144356, PMID:7778849 |
RGD:1358658 |
NCBI chr19:14,508,634...14,515,455
Ensembl chr19:14,508,616...14,515,456
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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 7:144,865,302...144,871,592
Ensembl chr 7:144,865,608...144,871,585
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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 4:81,237,496...81,241,281
Ensembl chr 4:81,237,496...81,241,282
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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 1:214,178,404...214,181,841
Ensembl chr 1:214,178,407...214,181,686
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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:21,696,796...21,699,241
Ensembl chr X:21,696,772...21,699,241
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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 chr17:1,579,319...1,610,745
Ensembl chr17:1,579,319...1,610,745
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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 |
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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 2:200,712,895...200,722,429
Ensembl chr 2:202,341,422...202,350,929
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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 7:117,538,523...117,565,478
Ensembl chr 7:117,538,523...117,565,478
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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 6:135,107,262...135,112,793
Ensembl chr 6:135,107,271...135,112,775 Ensembl chr 6:135,107,271...135,112,775
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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's disease |
ClinVar |
PMID:16369530 PMID:16921174 PMID:24691562 |
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NCBI chr11:14,146,515...14,160,697
Ensembl chr11:14,144,130...14,160,892
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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 chr20:4,875,834...4,881,751
Ensembl chr20:4,877,324...4,879,779
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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 chr20:4,877,638...4,880,112
Ensembl chr20:2,699,712...2,701,815
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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 chr18:27,731,072...27,749,235
Ensembl chr18:27,731,072...27,749,235
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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 chr12:23,839,390...23,841,051
Ensembl chr12:23,839,399...23,841,049
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G |
Hspd1 |
heat shock protein family D (Hsp60) member 1 |
|
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 9:61,680,529...61,691,202
Ensembl chr 9:61,680,530...61,690,956
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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 2:36,246,628...36,247,896
Ensembl chr 2:36,246,628...36,247,896
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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 5:157,501,202...157,518,870
Ensembl chr 5:157,503,040...157,518,631
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G |
Htra2 |
HtrA serine peptidase 2 |
|
ISO |
protein:increased activity:frontal cortex (human) |
RGD |
PMID:21163861 |
RGD:5688722 |
NCBI chr 4:113,883,671...113,886,833
Ensembl chr 4:113,883,670...113,886,994
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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 8:22,035,287...22,047,049
Ensembl chr 8:22,035,256...22,047,059
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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 |
PMID:17192785, PMID:12634421, PMID:28157092, PMID:28164769, PMID:29948724, PMID:26963025, PMID:28447730, PMID:28553348, PMID:30224067 |
RGD:737718, RGD:13792829, RGD:13792824, RGD:13792800, RGD:13792798, RGD:13792793, RGD:13792792, RGD:13792790 |
NCBI chr 1:255,914,465...256,014,168
Ensembl chr 1:255,914,447...256,013,495
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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 |
PMID:15750215, PMID:23740209, PMID:10399774, PMID:24054991, PMID:23089282, PMID:24301648, PMID:24301648 |
RGD:10045852, RGD:10402576, RGD:10045860, RGD:10045854, RGD:10045853, RGD:10045853 |
NCBI chr 7:28,412,123...28,491,815
Ensembl chr 7:28,412,198...28,486,609
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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 |
PMID:15750215, PMID:20409077, PMID:23562514, PMID:18479783, PMID:18479783, PMID:16274856, PMID:16274856, PMID:19487308 |
RGD:5686420, RGD:12904921, RGD:10045894, RGD:10045894, RGD:10045879, RGD:10045879, RGD:10045878 |
NCBI chr 1:128,924,921...129,213,816
Ensembl chr 1:128,924,966...129,206,516
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G |
Igf2 |
insulin-like growth factor 2 |
treatment |
IEP ISO |
mRNA:decreased expression:brain CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15750215, PMID:16627931, PMID:24685003, PMID:21040071, PMID:24887203 |
RGD:5509963, RGD:10402559, RGD:10402558, RGD:10045934 |
NCBI chr 1:215,828,102...215,839,081
Ensembl chr 1:215,828,102...215,846,911
|
|
G |
Igf2r |
insulin-like growth factor 2 receptor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15750215 |
|
NCBI chr 1:48,176,095...48,264,482
Ensembl chr 1:48,176,106...48,264,477
|
|
G |
Igfbp2 |
insulin-like growth factor binding protein 2 |
|
ISO |
protein:decreased expression:temporal cortex: |
RGD |
PMID:18479783 |
RGD:10045894 |
NCBI chr 9:80,118,029...80,144,804
Ensembl chr 9:80,118,029...80,144,789
|
|
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 chr14:87,457,647...87,465,374
Ensembl chr14:87,457,647...87,465,374
|
|
G |
Ikbkb |
inhibitor of nuclear factor kappa B kinase subunit beta |
treatment |
IEP |
protein:increased expression:hippocampus: |
RGD |
PMID:24380241 |
RGD:10045941 |
NCBI chr16:74,177,233...74,230,809
Ensembl chr16:74,177,215...74,230,815
|
|
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 chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
|
|
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 3:121,824,712...121,836,122
Ensembl chr 3:121,825,412...121,836,086
|
|
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 |
PMID:18675847, PMID:16600299, PMID:20413850, PMID:18830724, PMID:18830724, PMID:23378761, PMID:26937653, PMID:24022074, PMID:24874542, PMID:29447949, PMID:22963993 |
RGD:1626633, RGD:13793381, RGD:13792820, RGD:13792820, RGD:13792819, RGD:11522340, RGD:13792818, RGD:13792817, RGD:13792816, RGD:7204700 |
NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
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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 2:123,847,150...123,851,854
Ensembl chr 2:123,847,150...123,851,854
|
|
G |
Il3 |
interleukin 3 |
|
ISO |
protein:decreased expression:plasma |
RGD |
PMID:17934472, PMID:18769539 |
RGD:5686815, RGD:5686817 |
NCBI chr10:39,620,535...39,622,973
Ensembl chr10:39,620,563...39,622,973
|
|
G |
Il33 |
interleukin 33 |
|
ISS |
OMIM:608907 |
MouseDO |
|
|
NCBI chr 1:248,112,611...248,147,030
Ensembl chr 1:248,132,090...248,147,029
|
|
G |
Il4 |
interleukin 4 |
|
ISO |
DNA:polymorphisms:promoter |
RGD |
PMID:20213229 |
RGD:10402788 |
NCBI chr10:38,963,979...38,969,531
Ensembl chr10:38,963,979...38,969,531
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|
G |
Il6 |
interleukin 6 |
treatment |
IDA |
|
RGD |
PMID:27088818 |
RGD:11062148 |
NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
|
|
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 2:189,196,180...189,255,987
Ensembl chr 2:189,205,701...189,254,628
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|
G |
Il6st |
interleukin 6 cytokine family signal transducer |
|
ISO |
protein:decreased expression:cerebrospinal fluid |
RGD |
PMID:10095017 |
RGD:10402847 |
NCBI chr 2:44,279,199...44,319,427
Ensembl chr 2:44,289,393...44,314,944
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|
G |
Il7 |
interleukin 7 |
|
ISO |
|
RGD |
PMID:22571981 |
RGD:10402933 |
NCBI chr 2:96,427,884...96,474,979
Ensembl chr 2:96,439,286...96,474,977
|
|
G |
Inpp5d |
inositol polyphosphate-5-phosphatase D |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30320580 |
|
NCBI chr 9:94,745,220...94,850,778
Ensembl chr 9:94,745,217...94,850,771
|
|
G |
Ins1 |
insulin 1 |
|
IEP |
mRNA:decreased expression:hippocampus |
RGD |
PMID:17448147 |
RGD:2298713 |
NCBI chr 1:272,799,784...272,800,351
Ensembl chr 1:272,799,784...272,800,347
|
|
G |
Ins2 |
insulin 2 |
|
IEP ISO |
mRNA:decreased expression:cerebral cortex CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9443474 PMID:15750215, PMID:17448147 |
RGD:2298713 |
NCBI chr 1:215,856,967...215,858,034
Ensembl chr 1:215,856,971...215,858,034
|
|
G |
Insr |
insulin receptor |
treatment |
ISO IEP |
CTD Direct Evidence: marker/mechanism mRNA:decreased expression:brain protein:altered localization:brain, neuron |
CTD |
PMID:24055495, PMID:23011726, PMID:16627931, PMID:18479783 |
RGD:10403036, RGD:5509963, RGD:10045894 |
NCBI chr12:1,682,527...1,816,414
Ensembl chr12:1,680,957...1,816,414
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|
G |
Iqck |
IQ motif containing K |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30820047 |
|
NCBI chr 1:188,571,930...188,690,184
Ensembl chr 1:188,571,953...188,688,700
|
|
G |
Ireb2 |
iron responsive element binding protein 2 |
|
ISO |
DNA:SNPs: :rs2656070, rs13180(human) |
RGD |
PMID:16914832 |
RGD:6893299 |
NCBI chr 8:59,450,974...59,503,634
Ensembl chr 8:59,420,123...59,501,118
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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 |
RGD:6482860, RGD:10403036, RGD:10045939, RGD:10045935, RGD:10045932, RGD:10045894, RGD:6482861 |
NCBI chr 9:88,033,668...88,086,488
Ensembl chr 9:88,033,668...88,086,488
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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 chr16:83,824,515...83,848,569
Ensembl chr16:83,824,430...83,848,684
|
|
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 4:140,247,297...140,580,749
Ensembl chr 4:140,247,313...140,580,748
|
|
G |
Jak2 |
Janus kinase 2 |
treatment |
ISO |
|
RGD |
PMID:18813209 |
RGD:10403051 |
NCBI chr 1:247,398,667...247,457,521
Ensembl chr 1:247,398,598...247,458,509
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|
G |
Jam2 |
junctional adhesion molecule 2 |
|
ISO |
ClinVar Annotator: match by term: Alzheimer's disease |
ClinVar |
PMID:16369530 PMID:16921174 PMID:24691562 |
|
NCBI chr11:24,235,310...24,285,279
Ensembl chr11:24,266,345...24,285,275
|
|
G |
Kcnc1 |
potassium voltage-gated channel subfamily C member 1 |
|
ISO |
mRNA, protein:decreased expression:neocortex (mouse) |
RGD |
PMID:21912965 |
RGD:9686062 |
NCBI chr 1:102,414,352...102,456,718
Ensembl chr 1:102,414,625...102,456,411
|
|
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 2:210,220,908...210,241,447
Ensembl chr 2:210,220,908...210,241,455
|
|
G |
Kcnma1 |
potassium calcium-activated channel subfamily M alpha 1 |
onset |
ISO |
DNA:SNP: :rs16934131 (human) |
RGD |
PMID:21480501 |
RGD:10412025 |
NCBI chr15:344,204...1,048,849
Ensembl chr15:344,360...1,047,956
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|
G |
Kl |
Klotho |
treatment |
ISO |
mRNA,protein:decreased expression:cerebral choroid,serum: |
RGD |
PMID:23973442 |
RGD:10403049 |
NCBI chr12:942,974...987,206
Ensembl chr12:943,006...987,551
|
|
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 6:136,330,151...136,373,716
Ensembl chr 6:136,330,383...136,373,721
|
|
G |
Klk6 |
kallikrein related-peptidase 6 |
|
ISO |
|
RGD |
PMID:12480753, PMID:12074831 |
RGD:1358604, RGD:1358599 |
NCBI chr 1:99,762,195...99,769,486
Ensembl chr 1:99,762,253...99,769,488
|
|
G |
Klrg1 |
killer cell lectin like receptor G1 |
|
ISO |
ClinVar Annotator: match by term: Alzheimer disease, susceptibility to |
ClinVar |
PMID:1717945 PMID:9697696 PMID:24033266 |
|
NCBI chr 4:155,038,936...155,051,449
Ensembl chr 4:155,039,628...155,051,429
|
|
G |
L1cam |
L1 cell adhesion molecule |
|
ISO |
protein:increased expression:cerebrospinal fluid (human) |
RGD |
PMID:16298234 |
RGD:6483456 |
NCBI chr X:156,901,244...156,928,064
Ensembl chr X:156,909,913...156,928,057
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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 |
RGD:5490231, RGD:5490244, RGD:5490243, RGD:5490242, RGD:5490241, RGD:5490239 |
NCBI chr 8:22,750,425...22,773,305
Ensembl chr 8:22,750,336...22,774,903
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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 |
PMID:20157255, PMID:25296496, PMID:9755363 |
RGD:10053617, RGD:10053632 |
NCBI chr 4:56,337,695...56,351,818
Ensembl chr 4:56,337,695...56,351,818
|
|
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 8:77,272,582...77,398,485
Ensembl chr 8:77,272,570...77,398,248
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|
G |
Lipi |
lipase I |
|
ISO |
ClinVar Annotator: match by term: Alzheimer's disease |
ClinVar |
PMID:16369530 PMID:16921174 PMID:24691562 |
|
NCBI chr11:13,960,246...13,999,869
Ensembl chr11:13,960,246...13,999,862
|
|
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 |
RGD:13793392, RGD:13799353, RGD:13793397, RGD:13793396, RGD:5685661, RGD:13793395, RGD:13793393 |
NCBI chr16:22,537,687...22,561,487
Ensembl chr16:22,537,056...22,561,496
|
|
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 |
PMID:9635959, PMID:19150622, PMID:29115637 |
RGD:1358747, RGD:13800553, RGD:13799352 |
NCBI chr 7:70,846,313...70,927,028
Ensembl chr 7:70,846,344...70,926,903
|
|
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 5:127,404,348...127,476,636
Ensembl chr 5:127,404,450...127,476,641
|
|
G |
Lrpap1 |
LDL receptor related protein associated protein 1 |
onset |
ISO |
|
RGD |
PMID:11425005 |
RGD:1358749 |
NCBI chr14:80,911,281...80,923,290
Ensembl chr14:80,911,270...80,924,831
|
|
G |
Maoa |
monoamine oxidase A |
|
ISO |
|
RGD |
PMID:1627256 |
RGD:10046060 |
NCBI chr X:6,554,698...6,620,722
Ensembl chr X:6,554,698...6,620,722
|
|
G |
Maob |
monoamine oxidase B |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:7816197 PMID:21075085, PMID:1627256 |
RGD:10046060 |
NCBI chr X:6,430,694...6,533,520
Ensembl chr X:6,430,594...6,533,534
|
|
G |
Map2 |
microtubule-associated protein 2 |
|
IDA |
|
RGD |
PMID:22083255 |
RGD:6483322 |
NCBI chr 9:73,204,753...73,462,965
Ensembl chr 9:73,319,710...73,462,972
|
|
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 chr11:88,203,863...88,273,301
Ensembl chr11:88,211,599...88,273,254
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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 chr14:8,079,955...8,371,508
Ensembl chr14:8,080,275...8,368,254
|
|
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 chr20:5,933,290...5,995,137
Ensembl chr20:5,933,303...5,995,137
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|
G |
Mapk3 |
mitogen activated protein kinase 3 |
treatment |
ISO |
|
RGD |
PMID:28079060 |
RGD:13800563 |
NCBI chr 1:198,192,773...198,198,975
Ensembl chr 1:198,192,773...198,198,975
|
|
G |
Mapk8 |
mitogen-activated protein kinase 8 |
disease_progression |
ISO |
protein:increased expression:brain,CA1 field of hippocampus: |
RGD |
PMID:11208906 |
RGD:10412676 |
NCBI chr16:9,620,854...9,709,342
Ensembl chr16:9,625,177...9,709,347
|
|
G |
Mapk9 |
mitogen-activated protein kinase 9 |
|
ISO |
protein:increased expression:brain,CA1 field of hippocampus: |
RGD |
PMID:11208906 |
RGD:10412676 |
NCBI chr10:35,333,859...35,374,364
Ensembl chr10:35,333,859...35,374,355
|
|
G |
Mapt |
microtubule-associated protein tau |
treatment onset no_association |
ISO IDA |
ClinVar Annotator: match by term: Alzheimer's 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 |
PMID:12852432 PMID:14517953 PMID:15750215 PMID:20157255 PMID:21715663 PMID:25352456 PMID:27117003 PMID:30279455, PMID:11520987, PMID:27060945, PMID:28342971, PMID:29126976, PMID:8226987, PMID:19252918, PMID:18587238, PMID:23116876, PMID:19308965 |
RGD:1302530, RGD:13800908, RGD:13800904, RGD:13782165, RGD:10412709, RGD:10412704, RGD:10412701, RGD:8158105, RGD:8158097 |
NCBI chr10:92,289,002...92,386,517
Ensembl chr10:92,288,910...92,386,517
|
|
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 1:248,435,069...248,442,669
Ensembl chr 1:248,723,397...248,729,962
|
|
G |
Mcm2 |
minichromosome maintenance complex component 2 |
|
ISO |
|
RGD |
PMID:19946466, PMID:17070803 |
RGD:10412048, RGD:10412050 |
NCBI chr 4:120,825,699...120,840,221
Ensembl chr 4:120,825,699...120,840,111
|
|
G |
Mdm4 |
MDM4 regulator of p53 |
disease_progression |
ISO |
|
RGD |
PMID:23861893 |
RGD:10047419 |
NCBI chr13:49,786,776...49,828,780
Ensembl chr13:49,792,794...49,828,720
|
|
G |
Mfn1 |
mitofusin 1 |
|
ISO |
protein:decreased expression:hippocampus (human) |
RGD |
PMID:19605646 |
RGD:7800727 |
NCBI chr 2:118,929,738...118,971,689
Ensembl chr 2:118,929,738...118,973,698
|
|
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 5:164,684,244...164,715,414
Ensembl chr 5:164,684,509...164,714,145
|
|
G |
Mir100 |
microRNA 100 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25992776 |
|
NCBI chr 8:45,746,948...45,747,027
Ensembl chr 8:45,746,948...45,747,027
|
|
G |
Mir124-3 |
microRNA 124-3 |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:28867212 |
|
NCBI chr 3:176,406,205...176,406,291
Ensembl chr 3:176,406,205...176,406,291
|
|
G |
Mir125b2 |
microRNA 125b-2 |
|
ISO |
ClinVar Annotator: match by term: Alzheimer's disease |
ClinVar |
PMID:16369530 PMID:16921174 PMID:24691562 |
|
NCBI chr11:16,097,346...16,097,433
|
|
G |
Mir146a |
microRNA 146a |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22099153 PMID:25992776 |
|
NCBI chr10:28,962,476...28,962,570
Ensembl chr10:28,962,476...28,962,570
|
|
G |
Mir155 |
microRNA 155 |
|
ISO |
ClinVar Annotator: match by term: Alzheimer's disease |
ClinVar |
PMID:16369530 PMID:16921174 PMID:24691562 |
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NCBI chr11:24,176,603...24,176,667
Ensembl chr11:24,176,603...24,176,667
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G |
Mir296 |
microRNA 296 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25992776 |
|
NCBI chr 3:172,357,490...172,357,567
Ensembl chr 3:172,357,490...172,357,567
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G |
Mir375 |
microRNA 375 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25992776 |
|
NCBI chr 9:82,161,716...82,161,790
Ensembl chr 9:82,161,716...82,161,790
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G |
Mir708 |
microRNA 708 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25992776 |
|
NCBI chr 1:161,221,246...161,221,333
Ensembl chr 1:161,221,246...161,221,333
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G |
Mir99a |
microRNA 99a |
|
ISO |
ClinVar Annotator: match by term: Alzheimer's disease |
ClinVar |
PMID:16369530 PMID:16921174 PMID:24691562 |
|
NCBI chr11:16,052,153...16,052,233
Ensembl chr11:16,052,153...16,052,233
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G |
Mirlet7c1 |
microRNA let-7c-1 |
|
ISO |
ClinVar Annotator: match by term: Alzheimer's disease |
ClinVar |
PMID:16369530 PMID:16921174 PMID:24691562 |
|
NCBI chr11:16,052,873...16,052,966
Ensembl chr11:16,052,868...16,052,975
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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 |
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 |
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 2:153,799,203...153,880,910
Ensembl chr 2:153,803,349...153,880,738
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G |
Mmp2 |
matrix metallopeptidase 2 |
|
ISO |
protein:decreased expression:platelet |
RGD |
PMID:21875409 |
RGD:10059680 |
NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611
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G |
Mmp9 |
matrix metallopeptidase 9 |
|
ISO |
protein:increased expression:plasma (human) |
RGD |
PMID:17697439 |
RGD:7207052 |
NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
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G |
Mpo |
myeloperoxidase |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Alzheimer disease, susceptibility to |
CTD ClinVar |
PMID:11087769 PMID:12915675 PMID:15023809 PMID:17304047 PMID:25741868 |
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NCBI chr10:75,087,892...75,098,260
Ensembl chr10:75,087,892...75,098,260
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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 8:13,304,355...13,350,329
Ensembl chr 8:13,305,152...13,352,489
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G |
Mrpl39 |
mitochondrial ribosomal protein L39 |
|
ISO |
ClinVar Annotator: match by term: Alzheimer's disease |
ClinVar |
PMID:16369530 PMID:16921174 PMID:24691562 |
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NCBI chr11:24,181,605...24,200,022
Ensembl chr11:24,181,658...24,199,968
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G |
Ms4a4a |
membrane spanning 4-domains A4A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21460841 |
|
NCBI chr 1:227,574,789...227,606,958
Ensembl chr 1:227,592,635...227,607,042 Ensembl chr 1:227,592,635...227,607,042
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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's disease |
ClinVar |
PMID:7624338 PMID:15972314, PMID:15075441 |
RGD:5490287 |
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
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
Ensembl chr MT:10,160...11,537
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G |
Mt1 |
metallothionein 1 |
|
ISO |
|
RGD |
PMID:22766972 |
RGD:10412319 |
NCBI chr19:11,301,991...11,303,007
Ensembl chr17:78,793,336...78,793,724
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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 chr19:11,307,966...11,308,740
Ensembl chr19:11,307,967...11,308,740
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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 chr19:11,324,708...11,326,112
Ensembl chr19:11,324,698...11,326,139
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G |
Mthfr |
methylenetetrahydrofolate reductase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17192785 |
|
NCBI chr 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
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G |
Nae1 |
NEDD8 activating enzyme E1 subunit 1 |
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ISO |
|
RGD |
PMID:14557245 |
RGD:2302388 |
NCBI chr19:653,510...680,378
Ensembl chr19:653,510...680,378
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G |
Napb |
NSF attachment protein beta |
|
ISO |
protein:decreased expression:temporal cortex |
RGD |
PMID:11244216 |
RGD:10412652 |
NCBI chr 3:143,017,571...143,063,904
Ensembl chr 3:143,020,454...143,063,983
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G |
Nbn |
nibrin |
|
ISO |
|
RGD |
PMID:15337312 |
RGD:2317734 |
NCBI chr 5:29,622,347...29,656,877
Ensembl chr 5:29,622,281...29,656,864
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G |
Ncam1 |
neural cell adhesion molecule 1 |
|
IEP |
|
RGD |
PMID:31028587 |
RGD:40925918 |
NCBI chr 8:53,836,797...54,134,881
Ensembl chr 8:53,839,098...53,901,358
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G |
Ncam2 |
neural cell adhesion molecule 2 |
|
ISO |
ClinVar Annotator: match by term: Alzheimer's disease |
ClinVar |
PMID:16369530 PMID:16921174 PMID:24691562 |
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NCBI chr11:19,669,922...20,705,063
Ensembl chr11:20,471,764...20,705,063
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G |
Ncf2 |
neutrophil cytosolic factor 2 |
|
ISO |
protein:altered localization |
RGD |
PMID:10873554 |
RGD:2314452 |
NCBI chr13:70,226,441...70,259,019
Ensembl chr13:70,226,647...70,257,576
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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 |
PMID:17192785, PMID:14642438, PMID:23595812, PMID:11992262, PMID:11992262, PMID:22404891, PMID:19394408, PMID:19394408, PMID:15157994, PMID:19840113 |
RGD:13801188, RGD:13801187, RGD:13801052, RGD:13801052, RGD:13801051, RGD:13801050, RGD:13801050, RGD:13801049, RGD:13801048 |
NCBI chr13:90,451,046...90,467,256
Ensembl chr13:90,451,044...90,467,256
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G |
Ndufa2 |
NADH:ubiquinone oxidoreductase subunit A2 |
|
ISO |
|
RGD |
PMID:28474567 |
RGD:13792588 |
NCBI chr18:29,585,671...29,587,760
Ensembl chr18:29,585,671...29,587,760
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G |
Ndufa5 |
NADH:ubiquinone oxidoreductase subunit A5 |
|
ISO |
|
RGD |
PMID:19760337 |
RGD:13801191 |
NCBI chr 4:51,590,413...51,598,771
Ensembl chr 4:51,590,413...51,598,771
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G |
Ndufa6 |
NADH:ubiquinone oxidoreductase subunit A6 |
|
ISO |
mRNA:increased expression:blood |
RGD |
PMID:26943237 |
RGD:11572212 |
NCBI chr 7:123,583,062...123,586,919
Ensembl chr 7:123,583,062...123,586,919
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G |
Ndufb3 |
NADH:ubiquinone oxidoreductase subunit B3 |
|
ISO |
|
RGD |
PMID:28474567 |
RGD:13792588 |
NCBI chr 9:65,478,496...65,488,708
Ensembl chr 9:65,478,496...65,488,702
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G |
Ndufb8 |
NADH:ubiquinone oxidoreductase subunit B8 |
|
ISO |
|
RGD |
PMID:14570706 |
RGD:1358651 |
NCBI chr 1:264,298,671...264,303,712
Ensembl chr 1:264,298,669...264,303,762
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G |
Ndufs3 |
NADH:ubiquinone oxidoreductase core subunit S3 |
onset |
ISO |
|
RGD |
PMID:28242297 |
RGD:13824970 |
NCBI chr 3:79,721,686...79,728,863
Ensembl chr 3:79,721,694...79,728,879
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G |
Nectin2 |
nectin cell adhesion molecule 2 |
|
ISO |
DNA:SNP: :rs6859 (human) CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29107063 PMID:30319691 PMID:30320580, PMID:22159054 |
RGD:6484658 |
NCBI chr 1:80,631,449...80,666,617
Ensembl chr 1:80,631,450...80,666,585
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G |
Nefm |
neurofilament medium |
|
ISO |
protein:decreased glycosylation:cerebral cortex |
RGD |
PMID:17687114 |
RGD:9743945 |
NCBI chr15:44,855,307...44,860,604
Ensembl chr15:44,855,310...44,860,604
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G |
Nfe2l2 |
nuclear factor, erythroid 2-like 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 3:62,497,568...62,525,146
Ensembl chr 3:62,497,571...62,524,996
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G |
Ngb |
neuroglobin |
treatment |
IEP |
|
RGD |
PMID:23428737 |
RGD:9743955 |
NCBI chr 6:111,126,259...111,131,699
Ensembl chr 6:111,126,261...111,132,320
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G |
Ngf |
nerve growth factor |
|
IEP |
|
RGD |
PMID:21368378 |
RGD:5144128 |
NCBI chr 2:204,886,158...204,939,523
Ensembl chr 2:204,886,202...204,940,453
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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 |
RGD:5508225, RGD:10414073, RGD:10413895, RGD:10413894, RGD:10413893, RGD:10413892, RGD:10413891, RGD:5508228 |
NCBI chr10:83,389,828...83,408,061
Ensembl chr10:83,389,847...83,408,061
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G |
Nog |
noggin |
|
ISO |
|
RGD |
PMID:19463786 |
RGD:10414082 |
NCBI chr10:76,811,759...76,813,386
Ensembl chr10:76,811,759...76,813,386
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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 chr12:44,214,949...44,405,530
Ensembl chr12:44,213,943...44,520,341
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G |
Nos2 |
nitric oxide synthase 2 |
|
IDA ISO |
|
RGD |
PMID:21163295, PMID:12384247, PMID:16908860 |
RGD:4891161, RGD:13824978, RGD:5508721 |
NCBI chr10:66,188,290...66,221,621
Ensembl chr10:66,189,786...66,313,190
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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 |
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 |
RGD:2292144, RGD:13824978, RGD:1358752 |
NCBI chr 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410
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G |
Npy |
neuropeptide Y |
treatment |
IEP ISO |
CTD Direct Evidence: marker/mechanism protein:decreased expression:plasma |
CTD |
PMID:11709213, PMID:22266216, PMID:8592643 |
RGD:10431479, RGD:10432246 |
NCBI chr 4:79,557,856...79,565,059
Ensembl chr 4:79,557,854...79,565,097 Ensembl chr 4:79,557,854...79,565,097
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G |
Nrg1 |
neuregulin 1 |
disease_progression |
ISO |
|
RGD |
PMID:12528817, PMID:29295823 |
RGD:10449002, RGD:41404730 |
NCBI chr16:62,969,573...64,065,063
Ensembl chr16:63,837,216...64,057,434
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G |
Nrgn |
neurogranin |
|
ISO |
|
RGD |
PMID:9329454 |
RGD:9835394 |
NCBI chr 8:40,015,049...40,023,193
Ensembl chr 8:40,015,049...40,023,193
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G |
Nrip1 |
nuclear receptor interacting protein 1 |
|
ISO |
ClinVar Annotator: match by term: Alzheimer's disease |
ClinVar |
PMID:16369530 PMID:16921174 PMID:24691562 |
|
NCBI chr11:14,658,225...14,742,478
Ensembl chr11:14,658,225...14,741,563
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G |
Ntf3 |
neurotrophin 3 |
|
ISO |
DNA:missense mutation:cds:p.G63E (human) |
RGD |
PMID:9502217 |
RGD:1358754 |
NCBI chr 4:158,636,883...158,705,886
Ensembl chr 4:158,636,884...158,705,886
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G |
Ntn1 |
netrin 1 |
treatment |
ISO |
|
RGD |
PMID:30066400 |
RGD:13782183 |
NCBI chr10:54,761,925...54,982,072
Ensembl chr10:54,761,871...54,967,585
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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 2:187,143,568...187,160,373
Ensembl chr 2:187,143,568...187,160,373
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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 chr17:5,934,651...6,245,778
Ensembl chr17:5,933,729...6,244,676
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G |
Nudt1 |
nudix hydrolase 1 |
|
ISO |
protein:decreased expression:hippocampus |
RGD |
PMID:21538080 |
RGD:10449033 |
NCBI chr12:16,391,578...16,398,771
Ensembl chr12:16,391,578...16,395,029
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G |
Opa1 |
OPA1, mitochondrial dynamin like GTPase |
|
ISO |
protein:decreased expression:brain |
RGD |
PMID:19605646 |
RGD:7800727 |
NCBI chr11:74,717,600...74,793,902
Ensembl chr11:74,720,254...74,793,803
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G |
Pak1 |
p21 (RAC1) activated kinase 1 |
|
ISO |
protein:altered localization |
RGD |
PMID:18347024 |
RGD:2299169 |
NCBI chr 1:162,768,156...162,883,356
Ensembl chr 1:162,768,156...162,883,355
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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 chr13:98,857,255...98,889,444
Ensembl chr13:98,857,177...98,889,716
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G |
Pawr |
pro-apoptotic WT1 regulator |
|
ISO |
mRNA,protein:increased expression:brain: |
RGD |
PMID:9701251 |
RGD:9835364 |
NCBI chr 7:51,273,764...51,353,700
Ensembl chr 7:51,273,771...51,353,068
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G |
Pcdh11x |
protocadherin 11 X-linked |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Alzheimer's disease |
CTD ClinVar |
PMID:19136949 PMID:29476165 |
|
NCBI chr X:92,596,355...93,341,412
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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 3:171,213,936...171,219,885
Ensembl chr 3:171,213,936...171,219,871
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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 1:1,734,863...1,767,759
Ensembl chr 1:1,736,276...1,767,618
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G |
Pcsk1n |
proprotein convertase subtilisin/kexin type 1 inhibitor |
|
ISO |
|
RGD |
PMID:14746899 |
RGD:1642360 |
NCBI chr X:15,324,263...15,327,705
Ensembl chr X:15,425,078...15,428,518 Ensembl chr X:15,425,078...15,428,518
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G |
Pde2a |
phosphodiesterase 2A |
treatment |
ISO |
|
RGD |
PMID:22771768 |
RGD:10449025 |
NCBI chr 1:166,534,643...166,626,158
Ensembl chr 1:166,534,643...166,626,158
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G |
Pdgfb |
platelet derived growth factor subunit B |
|
ISO |
protein:increased expression:plasma: |
RGD |
PMID:22279551 |
RGD:10449445 |
NCBI chr 7:121,215,458...121,233,092
Ensembl chr 7:121,214,628...121,232,741
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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 chr12:45,026,948...45,031,148
Ensembl chr12:45,026,886...45,031,145
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|
G |
Pgrmc1 |
progesterone receptor membrane component 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25390692 |
|
NCBI chr X:123,205,869...123,213,880
Ensembl chr X:123,205,869...123,213,882
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|
G |
Phactr2 |
phosphatase and actin regulator 2 |
|
ISO |
mRNA: splice variants |
RGD |
PMID:20590401 |
RGD:6483097 |
NCBI chr 1:7,352,050...7,633,991
Ensembl chr 1:7,355,154...7,480,825
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|
G |
Picalm |
phosphatidylinositol binding clathrin assembly protein |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19734902 PMID:21460841 |
|
NCBI chr 1:154,377,229...154,458,966
Ensembl chr 1:154,377,247...154,458,425
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G |
Pik3cg |
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma |
|
ISO |
|
RGD |
PMID:20025958 |
RGD:6482689 |
NCBI chr 6:51,465,696...51,501,234
Ensembl chr 6:51,465,908...51,498,337
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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 2:31,742,326...31,826,882
Ensembl chr 2:31,745,088...31,826,867
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G |
Pin1 |
peptidylprolyl cis/trans isomerase, NIMA-interacting 1 |
|
ISS |
OMIM:104300 | OMIM:502500 | OMIM:604154 | OMIM:608907 |
MouseDO |
|
|
NCBI chr 8:21,669,236...21,680,615
Ensembl chr 8:21,669,236...21,680,615
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G |
Plau |
plasminogen activator, urokinase |
no_association |
ISO |
ClinVar Annotator: match by term: Alzheimer disease, late-onset, susceptibility to CTD Direct Evidence: marker/mechanism DNA:SNPs: :multiple mRNA:increased expression:brain |
ClinVar CTD |
PMID:12898287 PMID:15615772 PMID:15616835 PMID:16341549 PMID:28492532, PMID:21860091, PMID:18076107, PMID:19889475, PMID:21790972 |
RGD:6483793, RGD:6484115, RGD:6483807, RGD:6483794 |
NCBI chr15:3,644,296...3,650,765
Ensembl chr15:3,644,769...3,650,819
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G |
Plcb1 |
phospholipase C beta 1 |
|
ISS ISO |
OMIM:104300 | OMIM:502500 | OMIM:604154 | OMIM:608907 |
MouseDO |
PMID:8534418 |
RGD:13825140 |
NCBI chr 3:127,721,244...128,419,565
Ensembl chr 3:128,155,069...128,419,545
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G |
Plcd1 |
phospholipase C, delta 1 |
|
ISO |
|
RGD |
PMID:8534418 |
RGD:13825140 |
NCBI chr 8:127,753,514...127,782,070
Ensembl chr 8:127,753,539...127,782,070
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G |
Plcg1 |
phospholipase C, gamma 1 |
|
ISO |
|
RGD |
PMID:8534418 |
RGD:13825140 |
NCBI chr 3:156,727,642...156,758,307
Ensembl chr 3:156,727,642...156,758,307
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G |
Plcg2 |
phospholipase C, gamma 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28714976 |
|
NCBI chr19:50,039,410...50,173,543
Ensembl chr19:50,045,020...50,173,220
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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 chr10:86,340,893...86,342,501
Ensembl chr10:86,340,940...86,342,858
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G |
Pon1 |
paraoxonase 1 |
|
ISO |
DNA:polymorphisms:multiple SNPs (human) |
RGD |
PMID:16319130 |
RGD:5509926 |
NCBI chr 4:30,249,749...30,276,297
Ensembl chr 4:30,249,742...30,276,372
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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 4:30,344,705...30,380,119
Ensembl chr 4:30,344,709...30,380,119
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G |
Pon3 |
paraoxonase 3 |
|
ISO |
DNA:polymorphisms:multiple SNPs (human) |
RGD |
PMID:16319130 |
RGD:5509926 |
NCBI chr 4:30,311,981...30,338,679
Ensembl chr 4:30,311,982...30,338,679
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G |
Poted |
POTE ankyrin domain family member D |
|
ISO |
ClinVar Annotator: match by term: Alzheimer's disease |
ClinVar |
PMID:16369530 PMID:16921174 PMID:24691562 |
|
NCBI chr17:62,948,685...62,982,667
Ensembl chr17:66,657,755...66,667,853
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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 7:126,618,872...126,687,282
Ensembl chr 7:126,619,196...126,681,752
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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 |
PMID:15993441 PMID:16407166 PMID:30328325, PMID:18573313, PMID:17440948 |
RGD:2301852, RGD:2311642 |
NCBI chr 4:147,274,055...147,399,383
Ensembl chr 4:147,274,107...147,399,380
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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 chr14:63,095,291...63,190,688
Ensembl chr14:63,095,720...63,187,009
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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 chr10:82,800,704...82,816,735
Ensembl chr10:82,800,704...82,816,731
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G |
Ppp2r2b |
protein phosphatase 2, regulatory subunit B, beta |
|
ISO |
DNA:repeat |
RGD |
PMID:21029765 |
RGD:5686295 |
NCBI chr18:36,985,709...37,421,383
Ensembl chr18:36,985,714...37,245,809
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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 chr14:100,311,224...100,360,879
Ensembl chr14:100,311,173...100,360,879
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G |
Prkcb |
protein kinase C, beta |
|
ISO |
|
RGD |
PMID:8534418 |
RGD:13825140 |
NCBI chr 1:192,233,569...192,575,339
Ensembl chr 1:192,233,910...192,574,831
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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 1:48,880,015...50,069,998
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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 |
|
NCBI chr 3:124,515,917...124,531,320
Ensembl chr 3:124,515,978...124,531,316
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G |
Psen1 |
presenilin 1 |
|
ISO |
DNA:missense mutations:cds:multiple (human) CTD Direct Evidence: marker/mechanism 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 ClinVar |
PMID:7596406 PMID:8773614 PMID:9384602 PMID:9851443 PMID:9851450 PMID:9915968 PMID:10643802 PMID:11389157 PMID:11524469 PMID:12192622 PMID:15003276 PMID:15622541 PMID:16033913 PMID:16216949 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:20194882 PMID:21959359 PMID:22507317 PMID:22810102 PMID:22906081 PMID:23861362 PMID:23990795 PMID:25333068 PMID:25352456 PMID:25714973 PMID:25741868 PMID:25937274 PMID:26166206 PMID:26242991 PMID:26467025 PMID:27117003 PMID:27312774 PMID:27357204 PMID:27535542 PMID:27567873 PMID:27644130 PMID:27930341 PMID:28448946 PMID:28492532 PMID:28554858 PMID:30279455 PMID:31467635, PMID:7596406, PMID:29641600 |
RGD:1302519, RGD:13782044 |
NCBI chr 6:107,169,514...107,221,000
Ensembl chr 6:107,169,528...107,216,798
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G |
Psen2 |
presenilin 2 |
severity |
ISO |
DNA:missense mutation:cds:p.N141I (human) ClinVar Annotator: match by term: Alzheimer's disease ClinVar Annotator: match by term: Early-Onset Familial Alzheimer Disease CTD Direct Evidence: marker/mechanism DNA:missense mutations:cds:p.N141I, p.M239V (human) |
RGD ClinVar CTD |
PMID:9050898 PMID:9384602 PMID:10976645 PMID:11723295 PMID:12925374 PMID:14623725 PMID:15663477 PMID:16474849 PMID:16651627 PMID:17186461 PMID:17345043 PMID:18667258 PMID:22312439 PMID:22503161 PMID:23383383 PMID:23558482 PMID:23861362 PMID:24880964 PMID:25104557 PMID:25604855 PMID:25741868 PMID:25937274 PMID:26242991 PMID:26467025 PMID:26507310 PMID:26899768 PMID:27060961 PMID:28492532 PMID:29181857 PMID:30045758, PMID:10976645, PMID:9246481 |
RGD:9743900, RGD:9743900, RGD:1302522 |
NCBI chr13:98,513,600...98,539,347
Ensembl chr13:98,513,570...98,530,724
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G |
Ptger4 |
prostaglandin E receptor 4 |
|
ISO |
|
RGD |
PMID:22044482 |
RGD:6483525 |
NCBI chr 2:54,951,625...54,966,470
Ensembl chr 2:54,952,821...54,963,448
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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 3:15,560,685...15,582,339
Ensembl chr 3:15,560,712...15,582,344
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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 chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335
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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 1:103,197,918...103,258,309
Ensembl chr 1:103,197,915...103,256,823
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G |
Pyy |
peptide YY |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11709213 |
|
NCBI chr10:90,047,989...90,049,155
Ensembl chr10:90,047,993...90,049,112
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G |
Rbm11 |
RNA binding motif protein 11 |
|
ISO |
ClinVar Annotator: match by term: Alzheimer's disease |
ClinVar |
PMID:16369530 PMID:16921174 PMID:24691562 |
|
NCBI chr11:14,005,704...14,015,723
Ensembl chr11:14,005,732...14,014,962
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G |
Rcan1 |
regulator of calcineurin 1 |
|
ISO |
|
RGD |
PMID:11483593 |
RGD:1580889 |
NCBI chr11:32,539,689...32,620,274
Ensembl chr11:32,539,683...32,550,539
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G |
Reg1a |
regenerating family member 1 alpha |
|
ISO |
mRNA:increased expression:brain (human) |
RGD |
PMID:2394826 |
RGD:9850119 |
NCBI chr 4:109,497,962...109,500,626
Ensembl chr 4:109,497,962...109,501,082
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G |
Reln |
reelin |
|
ISO |
protein:increased expression:cerebrospinal fluid (human) protein: increased expression: brain CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20610758, PMID:12645087, PMID:20025970 |
RGD:729771, RGD:13207521 |
NCBI chr 4:9,347,533...9,774,257
Ensembl chr 4:9,347,528...9,773,670
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G |
RGD1563888 |
similar to DNA segment, Chr 16, ERATO Doi 472, expressed |
|
ISO |
ClinVar Annotator: match by term: Alzheimer's disease |
ClinVar |
PMID:16369530 PMID:16921174 PMID:24691562 |
|
NCBI chr11:17,073,296...17,120,235
Ensembl chr11:17,076,980...17,130,120
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G |
RT1-Db1 |
RT1 class II, locus Db1 |
|
ISO |
|
RGD |
PMID:21473952 |
RGD:5147563 |
NCBI chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
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G |
Runx1 |
RUNX family transcription factor 1 |
|
ISO |
associated with Down Syndrome |
RGD |
PMID:20946940 |
RGD:6482829 |
NCBI chr11:32,765,147...33,003,061
Ensembl chr11:32,769,165...33,003,021
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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 chr20:13,130,633...13,142,856
Ensembl chr20:13,130,636...13,142,856
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G |
Samsn1 |
SAM domain, SH3 domain and nuclear localization signals, 1 |
|
ISO |
ClinVar Annotator: match by term: Alzheimer's disease |
ClinVar |
PMID:16369530 PMID:16921174 PMID:24691562 |
|
NCBI chr11:14,252,088...14,405,825
Ensembl chr11:14,253,848...14,304,725
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G |
Sell |
selectin L |
severity |
ISO |
protein:decreased expression:plasma |
RGD |
PMID:21484243 |
RGD:5685677 |
NCBI chr13:82,369,820...82,387,774
Ensembl chr13:82,369,493...82,387,631
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G |
Selp |
selectin P |
severity |
ISO |
protein:decreased expression:plasma |
RGD |
PMID:21484243 |
RGD:5685677 |
NCBI chr13:82,428,914...82,464,629
Ensembl chr13:82,429,063...82,464,628
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G |
Serpine2 |
serpin family E member 2 |
|
ISO |
|
RGD |
PMID:2813392 |
RGD:2317937 |
NCBI chr 9:85,560,852...85,629,410
Ensembl chr 9:85,560,863...85,626,094
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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 chr10:62,241,750...62,254,145
Ensembl chr10:62,241,756...62,254,287
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G |
Shc1 |
SHC adaptor protein 1 |
|
ISO |
protein:increased phosphorylation:neuron |
RGD |
PMID:15837797 |
RGD:1643185 |
NCBI chr 2:188,745,503...188,757,066
Ensembl chr 2:188,745,503...188,757,066
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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 chr20:26,831,971...26,851,587
Ensembl chr20:26,833,357...26,852,199
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G |
Sirt3 |
sirtuin 3 |
|
ISO |
mRNA:increased expression:brain |
RGD |
PMID:23139766 |
RGD:9586045 |
NCBI chr 1:213,613,502...213,636,061
Ensembl chr 1:213,613,513...213,635,546
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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 chr16:8,682,668...8,685,529
Ensembl chr16:8,682,669...8,685,529
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G |
Slc25a4 |
solute carrier family 25 member 4 |
|
ISO |
|
RGD |
PMID:21958963 |
RGD:9681463 |
NCBI chr16:49,266,903...49,270,698
Ensembl chr16:49,266,903...49,270,698
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G |
Slc2a1 |
solute carrier family 2 member 1 |
|
ISO |
|
RGD |
PMID:8179300 |
RGD:2313620 |
NCBI chr 5:138,154,677...138,182,897
Ensembl chr 5:138,154,673...138,182,897
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G |
Slc2a3 |
solute carrier family 2 member 3 |
|
ISO |
|
RGD |
PMID:8179300 |
RGD:2313620 |
NCBI chr 4:155,549,991...155,626,018
Ensembl chr 4:155,408,233...155,631,856 Ensembl chr 4:155,408,233...155,631,856
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G |
Slc2a4 |
solute carrier family 2 member 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24055495 |
|
NCBI chr10:56,552,921...56,558,562
Ensembl chr10:56,552,983...56,558,487
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G |
Slc30a4 |
solute carrier family 30 member 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16580781 |
|
NCBI chr 3:114,805,919...114,828,154
Ensembl chr 3:114,805,922...114,828,154
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G |
Slc30a6 |
solute carrier family 30 member 6 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16580781 |
|
NCBI chr 6:22,197,003...22,226,364
Ensembl chr 6:22,197,040...22,226,421
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G |
Slc8a1 |
solute carrier family 8 member A1 |
|
ISO |
protein:altered expression:synaptosome: |
RGD |
PMID:21382638 |
RGD:13628395 |
NCBI chr 6:4,244,076...4,564,262
Ensembl chr 6:4,258,991...4,520,604
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G |
Slc8a2 |
solute carrier family 8 member A2 |
|
ISO |
protein:altered expression:synaptosome: |
RGD |
PMID:21382638 |
RGD:13628395 |
NCBI chr 1:78,029,555...78,054,042
Ensembl chr 1:78,025,995...78,060,111
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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 6:104,889,500...105,099,408
Ensembl chr 6:104,891,376...105,097,054
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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 8:94,447,558...94,564,772
Ensembl chr 8:94,447,550...94,564,525
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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 4:90,782,412...90,883,236
Ensembl chr 4:90,782,374...90,882,285
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G |
Sncb |
synuclein, beta |
|
ISO |
mRNA:decreased expression:brain |
RGD |
PMID:11578596 |
RGD:6480194 |
NCBI chr17:10,384,472...10,392,776
Ensembl chr17:10,384,511...10,392,843
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G |
Sncg |
synuclein, gamma |
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ISO |
protein:increased expression:cerebrospinal fluid |
RGD |
PMID:18577885 |
RGD:6478792 |
NCBI chr16:10,722,110...10,726,648
Ensembl chr16:10,722,106...10,726,707
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G |
Snrnp70 |
small nuclear ribonucleoprotein U1 subunit 70 |
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ISO |
protein:increased expression:cerebral cortex (human) |
RGD |
PMID:24023061 |
RGD:10448959 |
NCBI chr 1:101,367,470...101,388,153
Ensembl chr 1:101,367,471...101,388,129
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G |
Snrpa |
small nuclear ribonucleoprotein polypeptide A |
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ISO |
protein:increased expression:cerebral cortex (human) |
RGD |
PMID:24023061 |
RGD:10448959 |
NCBI chr 1:83,999,670...84,008,429
Ensembl chr 1:83,999,671...84,008,293
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G |
Sod1 |
superoxide dismutase 1 |
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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 chr11:30,363,282...30,368,858
Ensembl chr11:30,363,280...30,368,862
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G |
Sod2 |
superoxide dismutase 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19374891, PMID:16369462 |
RGD:1579972 |
NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
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G |
Sorl1 |
sortilin related receptor 1 |
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ISO |
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RGD |
PMID:15313836 |
RGD:1581303 |
NCBI chr 8:46,228,077...46,287,171
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G |
Spint1 |
serine peptidase inhibitor, Kunitz type 1 |
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ISO |
protein:decreased expression:parietal cortex (human) |
RGD |
PMID:9743567 |
RGD:1581317 |
NCBI chr 3:111,049,132...111,061,991
Ensembl chr 3:111,049,118...111,062,011
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G |
Stat3 |
signal transducer and activator of transcription 3 |
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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 chr10:88,790,401...88,842,263
Ensembl chr10:88,790,408...88,842,233
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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 chr20:32,276,857...32,353,677
Ensembl chr20:32,276,658...32,353,677
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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:15,694,699...15,709,244
Ensembl chr X:15,695,566...15,707,436
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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 chr20:3,995,544...4,009,587
Ensembl chr20:3,995,544...4,009,587 Ensembl chr20:3,995,544...4,009,587
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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 5:165,432,089...165,442,232
Ensembl chr 5:165,432,095...165,442,048
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G |
Tbp |
TATA box binding protein |
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ISO |
protein:increased expression:hippocampus, entorhinal cortex (human) |
RGD |
PMID:15193429 |
RGD:5684338 |
NCBI chr 1:57,491,381...57,509,335
Ensembl chr 1:57,491,643...57,508,449
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G |
Tdo2 |
tryptophan 2,3-dioxygenase |
treatment |
ISO |
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RGD |
PMID:27190010 |
RGD:13601984 |
NCBI chr 2:180,897,059...180,914,919
Ensembl chr 2:180,897,011...180,914,940
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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 |
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NCBI chr 8:111,694,570...111,721,275
Ensembl chr 8:111,673,547...111,721,333
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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 |
PMID:17192785, PMID:21799244, PMID:17537576 |
RGD:6767575, RGD:6771185 |
NCBI chr20:18,594,057...18,606,106
Ensembl chr20:18,594,037...18,606,151
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G |
Thbd |
thrombomodulin |
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ISO |
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RGD |
PMID:15760641 |
RGD:5685018 |
NCBI chr 3:142,748,673...142,752,325
Ensembl chr 3:142,748,674...142,752,325
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G |
Timp2 |
TIMP metallopeptidase inhibitor 2 |
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ISO |
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RGD |
PMID:12614934 |
RGD:1580169 |
NCBI chr10:107,338,465...107,386,072
Ensembl chr10:107,338,465...107,386,072
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G |
Tlr4 |
toll-like receptor 4 |
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ISO |
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RGD |
PMID:16157451 |
RGD:1580680 |
NCBI chr 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052
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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 6:109,169,739...109,205,004
Ensembl chr 6:109,169,741...109,205,004
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G |
Tmprss15 |
transmembrane serine protease 15 |
|
ISO |
ClinVar Annotator: match by term: Alzheimer's disease |
ClinVar |
PMID:16369530 PMID:16921174 PMID:24691562 |
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NCBI chr11:17,561,591...17,684,903
Ensembl chr11:17,561,596...17,684,903
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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 |
PMID:10400991 PMID:16908746 PMID:17192785, PMID:12962917, PMID:18834925, PMID:15468911, PMID:9772027, PMID:16516271, PMID:16908746, PMID:18992723, PMID:18992723 |
RGD:1580320, RGD:13825257, RGD:13825256, RGD:13825255, RGD:13825253, RGD:13825250, RGD:13825248, RGD:13825248 |
NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000 Ensembl chr20:5,189,390...5,192,000
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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 4:157,864,905...157,877,634
Ensembl chr 4:157,864,969...157,877,633
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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 5:163,136,390...163,167,299
Ensembl chr 5:163,136,390...163,167,299
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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 1:80,617,749...80,630,253
Ensembl chr 1:80,618,154...80,630,038
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G |
Tp53 |
tumor protein p53 |
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ISO |
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RGD |
PMID:17581637 |
RGD:2290573 |
NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
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G |
Tph1 |
tryptophan hydroxylase 1 |
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ISO |
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RGD |
PMID:15182943 |
RGD:1580467 |
NCBI chr 1:102,669,868...102,699,442
Ensembl chr 1:102,669,868...102,699,442
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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 4:157,328,375...157,331,905
Ensembl chr 4:157,328,379...157,331,905 Ensembl chr 9:157,328,379...157,331,905
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G |
Tpp1 |
tripeptidyl peptidase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10320038 |
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NCBI chr 1:170,588,036...170,594,159
Ensembl chr 1:170,588,035...170,594,168
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G |
Trem2 |
triggering receptor expressed on myeloid cells 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24663666 PMID:28714976 |
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NCBI chr 9:14,611,541...14,618,076
Ensembl chr 9:14,611,561...14,618,013
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G |
Tsc2 |
TSC complex subunit 2 |
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ISO |
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RGD |
PMID:16341938 |
RGD:1580518 |
NCBI chr10:13,962,006...13,996,684
Ensembl chr10:13,961,947...13,996,584
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G |
Ttr |
transthyretin |
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ISO |
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RGD |
PMID:16552785 |
RGD:1580525 |
NCBI chr18:15,532,963...15,542,180
Ensembl chr18:15,532,963...15,540,177
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G |
Uchl1 |
ubiquitin C-terminal hydrolase L1 |
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ISO |
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RGD |
PMID:14722078 |
RGD:1580538 |
NCBI chr14:43,133,224...43,143,942
Ensembl chr14:43,133,218...43,143,973
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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 chr19:24,456,976...24,464,808
Ensembl chr19:24,456,976...24,464,807
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G |
Uqcrc1 |
ubiquinol-cytochrome c reductase core protein 1 |
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ISO |
DNA:hypermethylation:promoter: protein:decreased expression:temporal cortex |
RGD |
PMID:26943237, PMID:11130185 |
RGD:11572212, RGD:13831335 |
NCBI chr 8:117,679,328...117,691,073
Ensembl chr 8:117,679,278...117,691,071
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G |
Usp25 |
ubiquitin specific peptidase 25 |
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ISO |
ClinVar Annotator: match by term: Alzheimer's disease |
ClinVar |
PMID:16369530 PMID:16921174 PMID:24691562 |
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NCBI chr11:15,436,080...15,558,646
Ensembl chr11:15,436,269...15,558,646 Ensembl chr11:15,436,269...15,558,646
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G |
Vcp |
valosin-containing protein |
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ISO |
ClinVar Annotator: match by term: Alzheimer's disease |
ClinVar |
PMID:30279455 |
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NCBI chr 5:58,426,548...58,445,953
Ensembl chr 5:58,426,549...58,445,953
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G |
Vegfa |
vascular endothelial growth factor A |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15732116, PMID:15732116 |
RGD:1580571 |
NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
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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 chr17:80,882,715...80,891,200
Ensembl chr17:80,882,666...80,891,212
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G |
Vldlr |
very low density lipoprotein receptor |
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ISO |
DNA:repeat |
RGD |
PMID:7550352 |
RGD:737739 |
NCBI chr 1:245,236,819...245,273,688
Ensembl chr 1:245,237,736...245,269,205
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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 6:37,001,360...37,121,969
Ensembl chr 6:37,001,356...37,122,023
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G |
Wt1 |
WT1 transcription factor |
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ISO |
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RGD |
PMID:12914969 |
RGD:1580623 |
NCBI chr 3:95,133,221...95,180,574
Ensembl chr 3:95,133,713...95,180,564
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G |
Wwox |
WW domain-containing oxidoreductase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30820047 |
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NCBI chr19:46,761,353...47,695,247
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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 8:103,774,125...103,883,563
Ensembl chr 8:103,774,358...103,878,899
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G |
A2m |
alpha-2-macroglobulin |
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ISO |
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OMIM |
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NCBI chr 4:154,309,426...154,359,138
Ensembl chr 4:154,309,426...154,359,137 Ensembl chr 4:154,309,426...154,359,137
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G |
App |
amyloid beta precursor protein |
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ISO |
ClinVar Annotator: match by term: Alzheimer disease, type 1 ClinVar Annotator: match by term: APP POLYMORPHISM |
ClinVar OMIM |
PMID:1303239 PMID:1303275 PMID:1415269 PMID:1520398 PMID:1634237 PMID:1671712 PMID:1678057 PMID:1678058 PMID:1679288 PMID:1908231 PMID:1925564 PMID:1944558 PMID:7686976 PMID:7806491 PMID:7845465 PMID:8154870 PMID:8290965 PMID:8499923 PMID:8886002 PMID:9328472 PMID:9754958 PMID:9848098 PMID:10097173 PMID:10441572 PMID:10611368 PMID:10821838 PMID:10867787 PMID:11063718 PMID:11311152 PMID:11487570 PMID:11528419 PMID:11568920 PMID:11910111 PMID:11978821 PMID:12034808 PMID:15365148 PMID:15488330 PMID:15502844 PMID:15668448 PMID:15776278 PMID:16505331 PMID:18413473 PMID:18437002 PMID:19281847 PMID:19363265 PMID:20452985 PMID:20634584 PMID:22503161 PMID:22702962 PMID:23224319 PMID:23515184 PMID:24033266 PMID:24390130 PMID:24524897 PMID:24650794 PMID:24677022 PMID:24694184 PMID:24880964 PMID:25138979 PMID:25948718 PMID:26402770 PMID:26467025 PMID:26803359 PMID:26888304 PMID:27777022 PMID:27838006 PMID:28304299 PMID:28350801 PMID:28492532 PMID:29263818 PMID:29859640 PMID:30045758 PMID:30279455 |
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NCBI chr11:24,425,013...24,641,872
Ensembl chr11:24,425,005...24,641,858
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Hfe |
homeostatic iron regulator |
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ISO |
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OMIM |
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NCBI chr17:43,661,276...43,669,327
Ensembl chr17:43,661,222...43,669,985
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Mpo |
myeloperoxidase |
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ISO |
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OMIM |
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NCBI chr10:75,087,892...75,098,260
Ensembl chr10:75,087,892...75,098,260
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Nos3 |
nitric oxide synthase 3 |
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ISO |
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OMIM |
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NCBI chr 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410
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Plau |
plasminogen activator, urokinase |
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ISO |
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OMIM |
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NCBI chr15:3,644,296...3,650,765
Ensembl chr15:3,644,769...3,650,819
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G |
Adam10 |
ADAM metallopeptidase domain 10 |
susceptibility |
ISO |
ClinVar Annotator: match by term: Alzheimer disease 18 CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM |
PMID:19608551 PMID:24055016 |
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NCBI chr 8:77,107,355...77,237,483
Ensembl chr 8:77,107,536...77,237,483
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G |
Pld3 |
phospholipase D family, member 3 |
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ISO |
ClinVar Annotator: match by term: ALZHEIMER DISEASE 19, LATE-ONSET |
ClinVar |
PMID:24336208 PMID:25832408 PMID:25832410 PMID:25832411 |
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NCBI chr 1:84,339,269...84,361,686
Ensembl chr 1:84,339,261...84,353,725
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Apoe |
apolipoprotein E |
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ISO |
ClinVar Annotator: match by term: Late onset familial Alzheimer disease |
OMIM ClinVar |
PMID:2987927 PMID:3922972 PMID:7263700 PMID:8346443 PMID:8618665 PMID:8644717 PMID:9343467 PMID:9932938 PMID:10213549 PMID:10799751 PMID:11835377 PMID:11940689 PMID:11940706 PMID:14741101 PMID:15048896 PMID:15184602 PMID:15326261 PMID:15557508 PMID:15668424 PMID:19605830 PMID:22381401 PMID:23060451 PMID:23296339 PMID:23571587 PMID:24033266 PMID:25741868 PMID:27260402 PMID:32376954 |
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NCBI chr 1:80,612,894...80,616,820
Ensembl chr 1:80,612,895...80,617,057
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Apoe |
apolipoprotein E |
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ISO |
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OMIM |
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NCBI chr 1:80,612,894...80,616,820
Ensembl chr 1:80,612,895...80,617,057
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G |
Kif5c |
kinesin family member 5C |
|
ISO |
protein:decreased expression:cerebellum (human) |
RGD |
PMID:24569455 |
RGD:12859086 |
NCBI chr 3:35,014,157...35,257,417
Ensembl chr 3:35,014,538...35,257,407
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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:26930193 PMID:28492532 |
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NCBI chr 7:132,857,311...133,018,549
Ensembl chr 7:132,857,628...133,018,584
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G |
Psen1 |
presenilin 1 |
|
ISO |
ClinVar Annotator: match by term: Alzheimer disease, type 3 ClinVar Annotator: match by term: Early onset Alzheimer disease with behavioral disturbance ClinVar Annotator: match by term: ALZHEIMER DISEASE, FAMILIAL, 3 |
OMIM ClinVar |
PMID:1985297 PMID:2025423 PMID:2793034 PMID:7550356 PMID:7581374 PMID:7596406 PMID:7623584 PMID:7942850 PMID:8538334 PMID:8634711 PMID:8634712 PMID:8733303 PMID:8733749 PMID:8755489 PMID:8773614 PMID:8837617 PMID:8910898 PMID:8931704 PMID:8986743 PMID:9007097 PMID:9007311 PMID:9051814 PMID:9052708 PMID:9126060 PMID:9172170 PMID:9189043 PMID:9196071 PMID:9225696 PMID:9384602 PMID:9436726 PMID:9443865 PMID:9450754 PMID:9521418 PMID:9521423 PMID:9540849 PMID:9544835 PMID:9546792 PMID:9680315 PMID:9712537 PMID:9728730 PMID:9804121 PMID:9831473 PMID:9851443 PMID:9851450 PMID:9915968 PMID:10090481 PMID:10327206 PMID:10401002 PMID:10430510 PMID:10439444 PMID:10441572 PMID:10447269 PMID:10448055 PMID:10468510 PMID:10525535 PMID:10548420 PMID:10594046 PMID:10631141 PMID:10643802 PMID:10720282 PMID:10764737 PMID:10783295 PMID:10811883 PMID:11027672 PMID:11070093 PMID:11079548 PMID:11094121 PMID:11124426 PMID:11395394 PMID:11402113 PMID:11432849 PMID:11504726 PMID:11524469 PMID:11568920 PMID:11684347 PMID:11710891 PMID:11895378 PMID:12048239 PMID:12119298 PMID:12192622 PMID:12370477 PMID:12433263 PMID:12484344 PMID:12493631 PMID:12493737 PMID:12552037 PMID:12660785 PMID:12752408 PMID:12805290 PMID:12810495 PMID:12891668 PMID:14557582 PMID:14743455 PMID:14769392 PMID:14966176 PMID:15003276 PMID:15115757 PMID:15205973 PMID:15337637 PMID:15534260 PMID:15622541 PMID:15718035 PMID:15772361 PMID:15776278 PMID:16033913 PMID:16116115 PMID:16216949 PMID:16227967 PMID:16267640 PMID:16344340 PMID:16533963 PMID:16628450 PMID:16669732 PMID:16710641 PMID:16752394 PMID:16805926 PMID:16897084 PMID:16923167 PMID:16930450 PMID:16952411 PMID:17108687 PMID:17186461 PMID:17197420 PMID:17254019 PMID:17288597 PMID:17320044 PMID:17366635 PMID:17431506 PMID:17502474 PMID:17522104 PMID:17545141 PMID:17553989 PMID:17854491 PMID:17931627 PMID:17962197 PMID:17968601 PMID:18350357 PMID:18525293 PMID:18580586 PMID:18587238 PMID:18637955 PMID:18667258 PMID:18760694 PMID:18797263 PMID:19021905 PMID:19111578 PMID:19196715 PMID:19276550 PMID:19276551 PMID:19457079 PMID:19659892 PMID:19912322 PMID:19915487 PMID:20047059 PMID:20145736 PMID:20157243 PMID:20164095 PMID:20194882 PMID:20332427 PMID:20484632 PMID:20628413 PMID:20634584 PMID:20729396 PMID:20847418 PMID:21094210 PMID:21357415 PMID:21373759 PMID:21559374 PMID:21725313 PMID:21919498 PMID:21952501 PMID:21959359 PMID:22115042 PMID:22118943 PMID:22232349 PMID:22312439 PMID:22343824 PMID:22426017 PMID:22460587 PMID:22461631 PMID:22475797 PMID:22503161 PMID:22505025 PMID:22508690 PMID:22517194 PMID:22581678 PMID:22584618 PMID:22689192 PMID:22766738 PMID:22810102 PMID:22906081 PMID:23085935 PMID:23114514 PMID:23341831 PMID:23380992 PMID:23383383 PMID:23409063 PMID:23539189 PMID:23570890 PMID:23588422 PMID:23792692 PMID:23843529 PMID:23861362 PMID:23885714 PMID:23990795 PMID:24011544 PMID:24093083 PMID:24121961 PMID:24217025 PMID:24304563 PMID:24352661 PMID:24418614 PMID:24698269 PMID:24773620 PMID:24860142 PMID:24880964 PMID:24928124 PMID:25174650 PMID:25182737 PMID:25239621 PMID:25326637 PMID:25333068 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:26438723 PMID:26462451 PMID:26467025 PMID:26756738 PMID:26826204 PMID:26923592 PMID:27014058 PMID:27073747 PMID:27100199 PMID:27100200 PMID:27206484 PMID:27264813 PMID:27312774 PMID:27357204 PMID:27454811 PMID:27535542 PMID:27614114 PMID:27644130 PMID:27777022 PMID:27793474 PMID:27810638 PMID:27930341 PMID:28350801 PMID:28492532 PMID:28550247 PMID:28554858 PMID:29316780 PMID:29404783 PMID:29571857 PMID:30045758 PMID:30090657 PMID:30528841 PMID:30590039 PMID:31153663 PMID:31686034 |
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NCBI chr 6:107,169,514...107,221,000
Ensembl chr 6:107,169,528...107,216,798
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Apoe |
apolipoprotein E |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Alzheimer disease, type 4 ClinVar Annotator: match by term: Alzheimer disease familial type 4 |
CTD ClinVar |
PMID:2987927 PMID:3922972 PMID:7263700 PMID:8346443 PMID:8618665 PMID:8644717 PMID:9343467 PMID:9932938 PMID:10213549 PMID:10799751 PMID:11835377 PMID:11940689 PMID:11940706 PMID:14741101 PMID:15048896 PMID:15184602 PMID:15326261 PMID:15557508 PMID:15668424 PMID:19605830 PMID:22381401 PMID:23060451 PMID:23296339 PMID:23571587 PMID:24033266 PMID:25741868 PMID:27260402 PMID:28492532 PMID:32376954 |
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NCBI chr 1:80,612,894...80,616,820
Ensembl chr 1:80,612,895...80,617,057
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Psen1 |
presenilin 1 |
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ISO |
ClinVar Annotator: match by synonym: ALZHEIMER DISEASE, FAMILIAL, 4 ClinVar Annotator: match by term: Alzheimer disease, type 4 |
ClinVar |
PMID:8910898 PMID:9189043 PMID:9804121 PMID:15205973 PMID:27777022 PMID:27930341 PMID:28350801 PMID:28492532 |
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NCBI chr 6:107,169,514...107,221,000
Ensembl chr 6:107,169,528...107,216,798
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Psen2 |
presenilin 2 |
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ISO |
ClinVar Annotator: match by term: Alzheimer disease, type 4 ClinVar Annotator: match by term: Alzheimer disease familial type 4 ClinVar Annotator: match by OMIM:606889 |
OMIM ClinVar |
PMID:7550356 PMID:7638622 PMID:7651536 PMID:8661049 PMID:8939861 PMID:8986743 PMID:9050898 PMID:9384602 PMID:9450781 PMID:9813158 PMID:10631141 PMID:10846187 PMID:11193137 PMID:11723295 PMID:12549925 PMID:12925374 PMID:14623725 PMID:14681895 PMID:14769392 PMID:15130954 PMID:15389756 PMID:15663477 PMID:15776278 PMID:16155344 PMID:16474849 PMID:16533963 PMID:16959576 PMID:17186461 PMID:17345043 PMID:18350357 PMID:18427071 PMID:18667258 PMID:18727676 PMID:18833506 PMID:18834536 PMID:19073399 PMID:19659892 PMID:20333730 PMID:20375137 PMID:20420489 PMID:20457965 PMID:20458010 PMID:20634584 PMID:21234330 PMID:21483645 PMID:21544564 PMID:21559247 PMID:21911706 PMID:21959359 PMID:22115042 PMID:22118943 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:26166204 PMID:26242991 PMID:26467025 PMID:26507310 PMID:26899768 PMID:27060961 PMID:27293189 PMID:27883225 PMID:28008242 PMID:28166811 PMID:28243073 PMID:28350801 PMID:28492532 PMID:29181857 PMID:30045758 PMID:30279455 PMID:30412492 PMID:30822648 PMID:30954774 PMID:31020001 PMID:225104557 |
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NCBI chr13:98,513,600...98,539,347
Ensembl chr13:98,513,570...98,530,724
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Abca7 |
ATP binding cassette subfamily A member 7 |
susceptibility |
ISO |
ClinVar Annotator: match by term: ALZHEIMER DISEASE 9, LATE-ONSET CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:25741868 PMID:25807283 PMID:26141617 PMID:27066581 PMID:28492532 |
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NCBI chr 7:12,742,433...12,762,423
Ensembl chr 7:12,742,433...12,762,341
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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 chr11:24,425,013...24,641,872
Ensembl chr11:24,425,005...24,641,858
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G |
App |
amyloid beta precursor protein |
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ISO |
ClinVar Annotator: match by term: ALZHEIMER DISEASE, FAMILIAL, 1 |
ClinVar |
PMID:1303239 PMID:1303275 PMID:8499923 PMID:9754958 PMID:9848098 PMID:10821838 PMID:11311152 PMID:11528419 PMID:15365148 PMID:15488330 PMID:15502844 PMID:18413473 PMID:19363265 PMID:23224319 PMID:24033266 PMID:25948718 PMID:26402770 PMID:26467025 PMID:26803359 PMID:28304299 PMID:28350801 PMID:28492532 PMID:29263818 PMID:29859640 PMID:30279455 |
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NCBI chr11:24,425,013...24,641,872
Ensembl chr11:24,425,005...24,641,858
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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 |
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NCBI chr 6:107,169,514...107,221,000
Ensembl chr 6:107,169,528...107,216,798
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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 6:107,169,514...107,221,000
Ensembl chr 6:107,169,528...107,216,798
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G |
Psen1 |
presenilin 1 |
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ISO |
ClinVar Annotator: match by term: Alzheimer disease, familial, with spastic paraparesis and unusual plaques ClinVar Annotator: match by term: Alzheimer disease, familial, 3, with unusual plaques ClinVar Annotator: match by term: Alzheimer disease, familial, 3, with spastic paraparesis and unusual plaques |
ClinVar |
PMID:7550356 PMID:8755489 PMID:9172170 PMID:9546792 PMID:10720282 PMID:11524469 PMID:12370477 PMID:12493737 PMID:14557582 PMID:15159497 PMID:15732120 PMID:19667325 PMID:27930341 PMID:28492532 |
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NCBI chr 6:107,169,514...107,221,000
Ensembl chr 6:107,169,528...107,216,798
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G |
App |
amyloid beta precursor protein |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12642396 |
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NCBI chr11:24,425,013...24,641,872
Ensembl chr11:24,425,005...24,641,858
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Avp |
arginine vasopressin |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:7562510 |
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NCBI chr 3:123,117,482...123,119,460
Ensembl chr 3:123,117,492...123,119,460
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G |
Bche |
butyrylcholinesterase |
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IMP |
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RGD |
PMID:21771623 |
RGD:5688134 |
NCBI chr 2:171,104,476...171,196,186
Ensembl chr 2:171,100,140...171,196,395
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Bdnf |
brain-derived neurotrophic factor |
treatment |
ISO |
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RGD |
PMID:25061594 |
RGD:10059361 |
NCBI chr 3:100,768,637...100,819,216
Ensembl chr 3:100,768,637...100,819,210
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G |
Csf2 |
colony stimulating factor 2 |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:8877002 |
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NCBI chr10:39,602,089...39,604,070
Ensembl chr10:39,602,089...39,604,070
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G |
Drd3 |
dopamine receptor D3 |
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IMP |
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RGD |
PMID:15619116 |
RGD:7175071 |
NCBI chr11:61,819,102...61,883,223
Ensembl chr11:61,822,077...61,874,327
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Gja1 |
gap junction protein, alpha 1 |
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IMP |
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RGD |
PMID:22665389 |
RGD:7207267 |
NCBI chr20:37,876,650...37,889,097
Ensembl chr20:37,876,650...37,889,089
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Gnai1 |
G protein subunit alpha i1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11350863 |
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NCBI chr 4:13,405,136...13,486,866
Ensembl chr 4:13,405,136...13,485,883
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G |
Gnai3 |
G protein subunit alpha i3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11350863 |
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NCBI chr 2:210,896,779...210,934,733
Ensembl chr 2:210,896,656...210,934,749
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Grp |
gastrin releasing peptide |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:11564462 |
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NCBI chr18:61,563,458...61,576,818
Ensembl chr18:61,563,053...61,576,818
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G |
Hrh3 |
histamine receptor H3 |
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IDA ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11125734, PMID:17276409 |
RGD:1626421 |
NCBI chr 3:175,474,310...175,479,395
Ensembl chr 3:175,473,078...175,479,395
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G |
Htr7 |
5-hydroxytryptamine receptor 7 |
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IMP |
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RGD |
PMID:18570192 |
RGD:6482184 |
NCBI chr 1:254,547,964...254,671,811
Ensembl chr 1:254,547,620...254,671,778
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Il1a |
interleukin 1 alpha |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:8003924 |
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NCBI chr 3:121,824,712...121,836,122
Ensembl chr 3:121,825,412...121,836,086
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Il2 |
interleukin 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:8241462 |
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NCBI chr 2:123,847,150...123,851,854
Ensembl chr 2:123,847,150...123,851,854
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Il6 |
interleukin 6 |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:9189931 |
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NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
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G |
Ngf |
nerve growth factor |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:16405025 PMID:19694610 |
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NCBI chr 2:204,886,158...204,939,523
Ensembl chr 2:204,886,202...204,940,453
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G |
Pdyn |
prodynorphin |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:7768285 |
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NCBI chr 3:122,194,327...122,206,671
Ensembl chr 3:122,194,329...122,206,671
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G |
Pomc |
proopiomelanocortin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:2841920 |
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NCBI chr 6:28,382,937...28,388,771
Ensembl chr 6:28,382,962...28,388,967
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G |
Prep |
prolyl endopeptidase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:8691432 |
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NCBI chr20:50,172,618...50,269,992
Ensembl chr20:50,172,618...50,269,992
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G |
Sigmar1 |
sigma non-opioid intracellular receptor 1 |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:12028363 |
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NCBI chr 5:58,121,824...58,124,687
Ensembl chr 5:58,121,786...58,124,681
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G |
Tac1 |
tachykinin, precursor 1 |
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