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: | Alzheimer's disease |
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Accession: | DOID:10652
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browse the term
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Definition: | A tauopathy that is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability and results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid. (DO) |
Synonyms: | exact_synonym: | AD; Alzheimer Disease, Susceptibility To; Alzheimer Sclerosis; Alzheimer Syndrome; Alzheimer Type Dementia; Alzheimer Type Dementia (ATD); Alzheimer Type Senile Dementia; Alzheimer dementia (AD); Alzheimer disease; Alzheimers dementia; Early Onset Alzheimer Disease; Familial Alzheimer Disease (FAD); Focal Onset Alzheimer's Disease; SDAT; acute confusional senile dementia; presenile Alzheimer dementia; presenile dementia; primary senile degenerative dementia; senile dementia |
| narrow_synonym: | ALZHEIMER DISEASE, EARLY-ONSET, WITH CEREBRAL AMYLOID ANGIOPATHY; ALZHEIMER DISEASE, PROTECTION AGAINST; EARLY-ONSET FAMILIAL ALZHEIMER DISEASE; Late Onset Alzheimer Disease; late-onset Alzheimers disease; presenile and senile dementia |
| related_synonym: | Alzheimer Disease, Early-Onset, Susceptibility To; Alzheimer Disease, Late-Onset, Susceptibility To; Alzheimer disease, association with; alpha-2-macroglobulin polymorphism; familial Alzheimer disease; transferrin variant C1/C2 |
| primary_id: | MESH:D000544 |
| alt_id: | MIM:502500 |
| xref: | EFO:0000249; EFO:1001870; GARD:10254; ICD9CM:331.0; MONDO:0004975; NCI:C2866 |
For additional species annotation, visit the
Alliance of Genome Resources.
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A2M |
alpha-2-macroglobulin |
no_association onset |
IAGP EXP |
ClinVar Annotator: match by term: ALPHA-2-MACROGLOBULIN POLYMORPHISM CTD Direct Evidence: marker/mechanism DNA:polymorphisms: :multiple DNA:deletion, polymorphisms, haplotypes: :multiple DNA:polymorphism: :p.I1000V (human) DNA:insertion/deletion, substitution DNA:deletion:splice junction: |
ClinVar CTD RGD |
PMID:1370808 PMID:1717945 PMID:9697696 PMID:9811940 PMID:15023809 PMID:24033266 PMID:10319853 PMID:12966032 PMID:12966032 PMID:10936700 PMID:12133586 PMID:14675603 PMID:9697696 More...
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RGD:1300322, RGD:10046016, RGD:10046016, RGD:10046015, RGD:10046014, RGD:10046012, RGD:1302534 |
NCBI chr12:9,067,708...9,116,229
Ensembl chr12:9,067,664...9,116,229
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ABAT |
4-aminobutyrate aminotransferase |
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IDA |
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RGD |
PMID:1627256 |
RGD:10046060 |
NCBI chr16:8,674,617...8,784,570
Ensembl chr16:8,674,596...8,784,575
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ABCA1 |
ATP binding cassette subfamily A member 1 |
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IAGP |
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RGD |
PMID:15024730 |
RGD:1300323 |
NCBI chr 9:104,781,006...104,928,155
Ensembl chr 9:104,781,006...104,928,155
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ABCA7 |
ATP binding cassette subfamily A member 7 |
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EXP IAGP |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Alzheimer disease, early onset |
CTD ClinVar |
PMID:21460840 PMID:25741868 PMID:25807283 PMID:26141617 PMID:27066581 PMID:28492532 More...
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NCBI chr19:1,040,107...1,065,572
Ensembl chr19:1,039,997...1,065,572
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ABCB1 |
ATP binding cassette subfamily B member 1 |
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ISO |
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RGD |
PMID:25991605 |
RGD:13801010 |
NCBI chr 7:87,503,017...87,713,295
Ensembl chr 7:87,503,017...87,713,323
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ABCC1 |
ATP binding cassette subfamily C member 1 (ABCC1 blood group) |
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ISO |
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RGD |
PMID:25991605 |
RGD:13801010 |
NCBI chr16:15,949,143...16,143,053
Ensembl chr16:15,949,138...16,143,257
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ABI3 |
ABI family member 3 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28714976 |
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NCBI chr17:49,210,707...49,223,225
Ensembl chr17:49,210,411...49,223,225
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ABL1 |
ABL proto-oncogene 1, non-receptor tyrosine kinase |
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ISO |
protein:increased expression:brain: |
RGD |
PMID:19700222 |
RGD:8693570 |
NCBI chr 9:130,713,043...130,887,675
Ensembl chr 9:130,713,043...130,887,675
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ACADVL |
acyl-CoA dehydrogenase very long chain |
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IEP |
protein:decreased expression:brain |
RGD |
PMID:25260493 |
RGD:10047114 |
NCBI chr17:7,217,125...7,225,266
Ensembl chr17:7,217,125...7,225,266
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ACE |
angiotensin I converting enzyme |
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ISO EXP IEA |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:9916793 PMID:10643899 PMID:14872014 PMID:17192785 PMID:30820047 PMID:19080340 PMID:15118671 More...
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RGD:2325232, RGD:1331525 |
NCBI chr17:63,477,061...63,498,373
Ensembl chr17:63,477,061...63,498,380
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ACHE |
acetylcholinesterase (Yt blood group) |
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IMP EXP |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:22944069 PMID:23047022 PMID:16581404 |
RGD:5509844 |
NCBI chr 7:100,889,994...100,896,994
Ensembl chr 7:100,889,994...100,896,974
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ADAM10 |
ADAM metallopeptidase domain 10 |
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ISO EXP |
protein:decreased expression:cerebral cortex, hippocampus CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:30820047 PMID:23296102 PMID:24792732 |
RGD:13703032, RGD:13703037 |
NCBI chr15:58,588,809...58,749,707
Ensembl chr15:58,588,809...58,749,791
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ADAM17 |
ADAM metallopeptidase domain 17 |
onset |
ISO IAGP |
protein:decreased expression:cerebral cortex, hippocampus DNA:missense mutation: :p.R215I (rs142946965) (human) |
RGD |
PMID:24792732 PMID:29988083 |
RGD:13703037, RGD:13782143 |
NCBI chr 2:9,488,486...9,555,830
Ensembl chr 2:9,488,486...9,556,732
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ADAM2 |
ADAM metallopeptidase domain 2 |
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IEP |
protein:increased expression:brain |
RGD |
PMID:10686596 |
RGD:10047127 |
NCBI chr 8:39,743,735...39,838,227
Ensembl chr 8:39,743,735...39,838,227
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ADAM9 |
ADAM metallopeptidase domain 9 |
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ISO |
protein:decreased expression:hippocampus |
RGD |
PMID:24792732 |
RGD:13703037 |
NCBI chr 8:38,996,973...39,105,261
Ensembl chr 8:38,996,754...39,105,445
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ADAMTS1 |
ADAM metallopeptidase with thrombospondin type 1 motif 1 |
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IAGP EXP |
ClinVar Annotator: match by term: Alzheimer disease CTD Direct Evidence: marker/mechanism |
ClinVar CTD |
PMID:16369530 PMID:16921174 PMID:24691562 PMID:25741868 PMID:30820047 |
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NCBI chr21:26,835,755...26,845,409
Ensembl chr21:26,835,755...26,845,409
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ADAMTS5 |
ADAM metallopeptidase with thrombospondin type 1 motif 5 |
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IAGP |
ClinVar Annotator: match by term: Alzheimer disease |
ClinVar |
PMID:16369530 PMID:16921174 PMID:24691562 PMID:25741868 |
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NCBI chr21:26,917,922...26,967,088
Ensembl chr21:26,917,922...26,967,088
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ADIPOQ |
adiponectin, C1Q and collagen domain containing |
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IEP |
protein:increased expression:plasma protein:increased expression:cerebrospinal fluid, plasma |
RGD |
PMID:22213409 PMID:20727007 |
RGD:5686377, RGD:5686881 |
NCBI chr 3:186,842,710...186,858,463
Ensembl chr 3:186,842,704...186,858,463
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ADNP |
activity dependent neuroprotector homeobox |
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ISO |
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RGD |
PMID:18199809 PMID:17720885 |
RGD:2312791, RGD:2312792 |
NCBI chr20:50,888,918...50,931,437
Ensembl chr20:50,888,916...50,931,437
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ADRA1A |
adrenoceptor alpha 1A |
susceptibility |
IAGP |
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RGD |
PMID:114750 |
RGD:5688374 |
NCBI chr 8:26,748,150...26,867,379
Ensembl chr 8:26,748,150...26,867,278
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ADRB3 |
adrenoceptor beta 3 |
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IAGP |
DNA:missense mutation:cds:p.W64R (human) |
RGD |
PMID:17440948 |
RGD:2311642 |
NCBI chr 8:37,962,990...37,966,599
Ensembl chr 8:37,962,990...37,966,599
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AGER |
advanced glycosylation end-product specific receptor |
treatment |
IEP IDA ISO |
protein:increased expression:brain (human) mRNA:increased expression:hippocampus, cerebral cortex (mouse) protein:increased expression:hippocampus (rat) |
RGD |
PMID:8751438 PMID:22415896 PMID:21593432 PMID:23164356 PMID:23396166 PMID:22745485 More...
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RGD:1300365, RGD:7245561, RGD:7245965, RGD:7244287, RGD:7244266, RGD:6784502 |
NCBI chr 6:32,180,969...32,184,253
Ensembl chr 6:32,180,968...32,184,322
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AGT |
angiotensinogen |
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IEP |
protein:increased expression:cerebrospinal fluid |
RGD |
PMID:21297254 |
RGD:5129180 |
NCBI chr 1:230,702,523...230,745,583
Ensembl chr 1:230,690,776...230,745,576
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AGTR1 |
angiotensin II receptor type 1 |
treatment |
IMP IEP |
protein:decreased expression:substantia nigra: |
RGD |
PMID:21929736 PMID:8666063 |
RGD:10047395, RGD:10047397 |
NCBI chr 3:148,697,903...148,743,003
Ensembl chr 3:148,697,784...148,743,008
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AIF1 |
allograft inflammatory factor 1 |
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IEP ISO |
mRNA:increased expression:frontal cortex (human) protein:altered expression:hippocampus (mouse) |
RGD |
PMID:16340083 PMID:19084047 |
RGD:2313045, RGD:2313023 |
NCBI chr 6:31,615,234...31,617,015
Ensembl chr 6:31,615,217...31,617,021
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AIFM1 |
apoptosis inducing factor mitochondria associated 1 |
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ISO IEP |
protein:increased expression:cortex,nucleus: protein:increased expression:basal forebrain,amygdala: |
RGD |
PMID:24915960 PMID:22536549 |
RGD:10053592, RGD:10053593 |
NCBI chr X:130,129,362...130,165,841
Ensembl chr X:130,124,666...130,165,879
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AKAP5 |
A-kinase anchoring protein 5 |
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IEP |
protein:increased expression:cell soma, dendritic arbor (human) |
RGD |
PMID:10460255 |
RGD:2313287 |
NCBI chr14:64,465,499...64,474,503
Ensembl chr14:64,465,499...64,474,503
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AKR7A2 |
aldo-keto reductase family 7 member A2 |
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IEP |
protein:increased expression:superior, middle temporal gyrus; |
RGD |
PMID:11597610 |
RGD:14349051 |
NCBI chr 1:19,302,708...19,312,146
Ensembl chr 1:19,303,965...19,312,144
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AKT1 |
AKT serine/threonine kinase 1 |
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ISO |
protein:increased tyrosine phosphorylation:cerebral cortex |
RGD |
PMID:18023354 |
RGD:5509085 |
NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,759
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ALDH2 |
aldehyde dehydrogenase 2 family member |
onset |
IAGP |
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RGD |
PMID:15126281 |
RGD:1599042 |
NCBI chr12:111,766,933...111,817,532
Ensembl chr12:111,766,887...111,817,532
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ALOX15 |
arachidonate 15-lipoxygenase |
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ISO IEP |
protein:increased expression:brain |
RGD |
PMID:20570249 PMID:15111312 |
RGD:5509595, RGD:5509620 |
NCBI chr17:4,630,919...4,641,678
Ensembl chr17:4,630,919...4,642,294
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AMBRA1 |
autophagy and beclin 1 regulator 1 |
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ISO |
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RGD |
PMID:23910655 |
RGD:14390071 |
NCBI chr11:46,396,412...46,594,023
Ensembl chr11:46,396,414...46,594,125
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AMFR |
autocrine motility factor receptor |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22313999 |
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NCBI chr16:56,361,452...56,425,545
Ensembl chr16:56,361,452...56,425,545
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ANG |
angiogenin |
severity |
IEP |
protein:decreased expression:serum |
RGD |
PMID:22449478 |
RGD:6892705 |
NCBI chr14:20,684,177...20,694,186
Ensembl chr14:20,684,177...20,698,971
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ANXA5 |
annexin A5 |
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ISO IEP |
protein:increased expression:brain, plasma protein:increased expression: plasma |
RGD |
PMID:20648654 PMID:20648654 |
RGD:7242030, RGD:7242030 |
NCBI chr 4:121,667,946...121,696,980
Ensembl chr 4:121,667,946...121,696,995
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AOC3 |
amine oxidase copper containing 3 |
severity |
IEP |
protein:increased expression:plasma |
RGD |
PMID:17393059 |
RGD:2313919 |
NCBI chr17:42,851,199...42,858,124
Ensembl chr17:42,851,184...42,858,130
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APBB1 |
amyloid beta precursor protein binding family B member 1 |
susceptibility no_association |
IAGP IEP |
DNA:mutations::multiple mRNA:altered expression:brain: DNA:deletion:intron: DNA:polymorphism:intron: |
RGD |
PMID:9799084 PMID:10723070 PMID:12727304 PMID:11099823 |
RGD:2301212, RGD:10054036, RGD:10054031, RGD:10054028 |
NCBI chr11:6,395,124...6,419,453
Ensembl chr11:6,395,125...6,419,414
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APBB2 |
amyloid beta precursor protein binding family B member 2 |
onset |
IAGP |
DNA:SNPs: :rs13133980,rs17443013(human) |
RGD |
PMID:15714520 |
RGD:9684954 |
NCBI chr 4:40,810,027...41,214,542
Ensembl chr 4:40,810,027...41,216,714
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APC |
APC regulator of WNT signaling pathway |
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IEP |
protein:increased expression:astrocyte |
RGD |
PMID:11547943 |
RGD:6484525 |
NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,518...112,846,239
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APH1A |
aph-1 homolog A, gamma-secretase subunit |
treatment |
ISO |
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RGD |
PMID:28588301 PMID:29926633 |
RGD:13703122, RGD:13703123 |
NCBI chr 1:150,265,404...150,269,016
Ensembl chr 1:150,265,399...150,269,580
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APH1B |
aph-1 homolog B, gamma-secretase subunit |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:33589840 |
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NCBI chr15:63,277,605...63,309,126
Ensembl chr15:63,276,018...63,309,126
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APLP2 |
amyloid beta precursor like protein 2 |
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ISO |
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RGD |
PMID:8086458 |
RGD:734582 |
NCBI chr11:130,069,894...130,144,805
Ensembl chr11:130,068,147...130,144,811
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APOA1 |
apolipoprotein A1 |
resistance |
IMP IEP |
DNA: : :transgenic model |
RGD |
PMID:20847045 PMID:19863188 |
RGD:5508212, RGD:5508218 |
NCBI chr11:116,835,751...116,837,622
Ensembl chr11:116,835,751...116,837,622
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APOA4 |
apolipoprotein A4 |
no_association |
ISO IAGP |
DNA:missense mutation:cds:p.Q360H (human) DNA:snp, haplotype:cds:p.S147N (rs5104) (human) |
RGD |
PMID:21356380 PMID:10559562 PMID:9272683 PMID:16013913 |
RGD:5685638, RGD:5685682, RGD:5685681, RGD:5685661 |
NCBI chr11:116,820,700...116,823,304
Ensembl chr11:116,820,700...116,823,304
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APOC1 |
apolipoprotein C1 |
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IAGP EXP |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:29107063 PMID:30319691 PMID:11825674 |
RGD:1578472 |
NCBI chr19:44,914,325...44,919,346
Ensembl chr19:44,914,247...44,919,349
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APOD |
apolipoprotein D |
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IEP |
protein:increased expression:cerebrospinal fluid, hippocampus |
RGD |
PMID:9751198 |
RGD:2311209 |
NCBI chr 3:195,568,705...195,583,940
Ensembl chr 3:195,568,705...195,584,033
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APOE |
apolipoprotein E |
susceptibility treatment no_association |
IEA IAGP EXP ISO IEP |
ClinVar Annotator: match by term: Alzheimer disease, early onset DNA:SNP: :APOEe4(human) CTD Direct Evidence: marker/mechanism DNA:polymorphism:promoter:-491A>T,-427T>C(human) protein:increased expression:hippocampus, synapse (rat) protein:increased expression:parietal cortex, synapse (human) DNA:missense mutations, haplotype:cds:p.C112R, (rs7412) (human) |
ClinVar CTD RGD |
PMID:2987927 PMID:3353383 PMID:3922972 PMID:7263700 PMID:8294487 PMID:8346443 PMID:8350998 PMID:8618665 PMID:8644717 PMID:9343467 PMID:9932938 PMID:10213549 PMID:10799751 PMID:11835377 PMID:11940689 PMID:11940706 PMID:14741101 PMID:15048896 PMID:15146461 PMID:15184602 PMID:15326261 PMID:15557508 PMID:15668424 PMID:18338393 PMID:18979180 PMID:18987351 PMID:19605830 PMID:19734902 PMID:19846850 PMID:20819998 PMID:21742527 PMID:22381401 PMID:23060451 PMID:23296339 PMID:23571587 PMID:24033266 PMID:24162737 PMID:24473795 PMID:25741868 PMID:27023435 PMID:27260402 PMID:29107063 PMID:29842932 PMID:30319691 PMID:30320580 PMID:32376954 PMID:15118671 PMID:20574532 PMID:20088507 PMID:18057979 PMID:22020632 PMID:22020632 PMID:10027549 More...
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RGD:1331525, RGD:10427727, RGD:12904712, RGD:7771594, RGD:6903910, RGD:6903910, RGD:6903233 |
NCBI chr19:44,905,796...44,909,393
Ensembl chr19:44,905,791...44,909,393
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APP |
amyloid beta precursor protein |
susceptibility treatment |
IAGP ISS EXP IMP IEP ISO |
ClinVar Annotator: match by term: Alzheimer disease ClinVar Annotator: match by term: Alzheimer disease | ClinVar Annotator: match by term: Alzheimer disease, early onset ClinVar Annotator: match by term: Early-Onset Familial Alzheimer Disease ClinVar Annotator: match by term: Alzheimer disease | ClinVar Annotator: match by term: Early-Onset Familial Alzheimer Disease ClinVar Annotator: match by term: Alzheimer's disease ClinVar Annotator: match by term: Alzheimer disease, protection against CTD Direct Evidence: marker/mechanism human transgene in rat model protein:increased expression:platelet associated with hypertension DNA:mutation:p.D678N (human) protein:increased expression:cerebral spinal fluid fluid,brain: protein:decreased expression:cerebrospinal fluid: |
ClinVar MouseDO CTD RGD |
PMID:1303172 PMID:1303239 PMID:1303275 PMID:1307241 PMID:1415269 PMID:1497677 PMID:1520398 PMID:1634237 PMID:1671712 PMID:1674311 PMID:1678057 PMID:1678058 PMID:1679288 PMID:1679289 PMID:1908231 PMID:1925564 PMID:2111584 PMID:7611715 PMID:7633445 PMID:7686976 PMID:7806491 PMID:7845465 PMID:8154870 PMID:8191290 PMID:8290965 PMID:8291572 PMID:8410047 PMID:8499923 PMID:8513318 PMID:8577393 PMID:8610157 PMID:8649577 PMID:8863158 PMID:8886002 PMID:9328472 PMID:9536098 PMID:9754958 PMID:9848098 PMID:10097173 PMID:10441572 PMID:10611368 PMID:10631141 PMID:10821838 PMID:11004129 PMID:11063718 PMID:11311152 PMID:11409420 PMID:11441013 PMID:11487570 PMID:11528419 PMID:11568920 PMID:11735772 PMID:11910111 PMID:11978821 PMID:12034808 PMID:12192006 PMID:12392798 PMID:12552037 PMID:12572668 PMID:12654973 PMID:12707272 PMID:12746438 PMID:12852432 PMID:14623725 PMID:14769392 PMID:15365148 PMID:15488330 PMID:15502844 PMID:15590663 PMID:15591071 PMID:15776278 PMID:15993441 PMID:16033913 PMID:16199547 PMID:16204253 PMID:16266835 PMID:16325427 PMID:16369530 PMID:16492752 PMID:16651627 PMID:16921174 PMID:16931535 PMID:16969627 PMID:17239395 PMID:17430250 PMID:17576681 PMID:17873282 PMID:18187157 PMID:18234110 PMID:18413473 PMID:18437002 PMID:18583042 PMID:18667258 PMID:19061884 PMID:19281847 PMID:19286555 PMID:19363265 PMID:19818510 PMID:20111991 PMID:20157255 PMID:20228223 PMID:20301414 PMID:20452985 PMID:20523046 PMID:20640797 PMID:21157020 PMID:21209907 PMID:21210284 PMID:21980910 PMID:22312439 PMID:22491860 PMID:22503161 PMID:22507317 PMID:22801501 PMID:23143229 PMID:23224319 PMID:23515184 PMID:23827522 PMID:23919771 PMID:24033266 PMID:24117942 PMID:24278680 PMID:24390130 PMID:24524897 PMID:24650794 PMID:24677022 PMID:24680827 PMID:24691562 PMID:24694184 PMID:24878480 PMID:25104557 PMID:25138979 PMID:25174650 PMID:25352456 PMID:25604855 PMID:25617006 PMID:25714973 PMID:25741868 PMID:25948718 PMID:26104569 PMID:26242991 PMID:26402770 PMID:26467025 PMID:26803359 PMID:27000221 PMID:27117003 PMID:27312774 PMID:27567873 PMID:27838006 PMID:27858710 PMID:28106563 PMID:28304299 PMID:28350801 PMID:28448946 PMID:28492532 PMID:29263818 PMID:29420472 PMID:29459625 PMID:29859640 PMID:30279455 PMID:30320580 PMID:30868685 PMID:31011484 PMID:31557888 PMID:31719132 PMID:31836585 PMID:31914229 PMID:31937505 PMID:32087291 PMID:32345996 PMID:32908482 PMID:32917274 PMID:33268848 PMID:33445953 PMID:35873773 PMID:16369530 PMID:17506994 PMID:15907478 PMID:30066400 PMID:29174383 PMID:29568075 PMID:29641600 PMID:15201367 PMID:11520987 PMID:11526104 PMID:1677459 More...
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RGD:1599199, RGD:2290385, RGD:1358533, RGD:13782183, RGD:13782049, RGD:13782047, RGD:13782044, RGD:10054280, RGD:1302530, RGD:10054258, RGD:10054257 |
NCBI chr21:25,880,550...26,171,128
Ensembl chr21:25,880,535...26,171,128
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APP-DT |
APP divergent transcript |
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IAGP |
ClinVar Annotator: match by term: Alzheimer disease |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr21:26,170,867...26,217,384
Ensembl chr21:26,170,871...26,217,381
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G |
AQP4 |
aquaporin 4 |
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IEP |
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RGD |
PMID:21107133 |
RGD:5148012 |
NCBI chr18:26,852,038...26,865,803
Ensembl chr18:26,852,043...26,865,771
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G |
ARC |
activity regulated cytoskeleton associated protein |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18503570 |
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NCBI chr 8:142,611,049...142,614,479
Ensembl chr 8:142,611,049...142,614,479
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G |
ASS1 |
argininosuccinate synthase 1 |
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IEP |
protein:increased expression:brain, glial cell (human) |
RGD |
PMID:11556547 |
RGD:4139898 |
NCBI chr 9:130,444,707...130,501,274
Ensembl chr 9:130,444,961...130,501,274
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G |
ATF2 |
activating transcription factor 2 |
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IEP |
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RGD |
PMID:9138733 PMID:15878807 |
RGD:10047399, RGD:10047400 |
NCBI chr 2:175,072,259...175,168,203
Ensembl chr 2:175,072,250...175,168,382
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G |
ATM |
ATM serine/threonine kinase |
disease_progression |
IEP |
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RGD |
PMID:23861893 |
RGD:10047419 |
NCBI chr11:108,223,067...108,369,102
Ensembl chr11:108,222,804...108,369,102
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G |
ATP5F1A |
ATP synthase F1 subunit alpha |
treatment onset |
EXP ISO |
CTD Direct Evidence: marker/mechanism protein:increased modification:inferior parietal cortex (human) |
CTD RGD |
PMID:19374891 PMID:25561935 PMID:19374891 |
RGD:13703056, RGD:13703046 |
NCBI chr18:46,080,248...46,104,227
Ensembl chr18:46,080,248...46,104,334
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G |
ATP5F1D |
ATP synthase F1 subunit delta |
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IEP |
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RGD |
PMID:28474567 |
RGD:13792588 |
NCBI chr19:1,241,751...1,244,825
Ensembl chr19:1,241,746...1,244,825
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G |
ATP5MG |
ATP synthase membrane subunit g |
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IEP |
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RGD |
PMID:28474567 |
RGD:13792588 |
NCBI chr11:118,401,606...118,409,847
Ensembl chr11:118,401,346...118,433,278
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G |
ATP5PF |
ATP synthase peripheral stalk subunit F6 |
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IAGP |
ClinVar Annotator: match by term: Alzheimer disease |
ClinVar |
PMID:16369530 PMID:16921174 PMID:24691562 PMID:25741868 |
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NCBI chr21:25,724,500...25,735,653
Ensembl chr21:25,716,503...25,735,673
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G |
ATP5PO |
ATP synthase peripheral stalk subunit OSCP |
treatment |
ISO IEP |
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RGD |
PMID:30266287 PMID:30266287 |
RGD:14696823, RGD:14696823 |
NCBI chr21:33,903,453...33,915,804
Ensembl chr21:33,903,453...33,915,814
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G |
ATP6V0E1 |
ATPase H+ transporting V0 subunit e1 |
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ISO |
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RGD |
PMID:23211594 |
RGD:10401913 |
NCBI chr 5:172,983,771...173,035,445
Ensembl chr 5:172,983,771...173,035,445
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G |
ATP7A |
ATPase copper transporting alpha |
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ISO |
mRNA:decreased expression:pituitary gland, vascular plexus (rat) |
RGD |
PMID:20027333 |
RGD:8657017 |
NCBI chr X:77,910,693...78,050,395
Ensembl chr X:77,910,690...78,050,395
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G |
ATR |
ATR serine/threonine kinase |
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IEP |
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RGD |
PMID:23861893 |
RGD:10047419 |
NCBI chr 3:142,449,235...142,578,733
Ensembl chr 3:142,449,007...142,578,733
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G |
BACE1 |
beta-secretase 1 |
susceptibility treatment |
IAGP ISO EXP |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:16407166 PMID:12824768 PMID:28763060 PMID:29038004 |
RGD:1358439, RGD:13782083, RGD:13782077 |
NCBI chr11:117,285,698...117,316,256
Ensembl chr11:117,285,232...117,316,259
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G |
BACE1-AS |
BACE1 antisense RNA |
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IEP |
RNA:increased expression:plasma |
RGD |
PMID:29316899 |
RGD:13782076 |
NCBI chr11:117,291,346...117,292,170
Ensembl chr11:117,288,453...117,293,578
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G |
BACE2 |
beta-secretase 2 |
susceptibility |
IEP IAGP |
mRNA,protein:increased expression:gyrus: DNA:SNP,haplotype:exon: |
RGD |
PMID:22074738 PMID:16023140 |
RGD:13782172, RGD:13782180 |
NCBI chr21:41,168,160...41,282,530
Ensembl chr21:41,167,801...41,282,530
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G |
BAD |
BCL2 associated agonist of cell death |
treatment |
ISO IEP |
protein:increased expression:temporal cortex, membrane |
RGD |
PMID:15339646 PMID:9507158 |
RGD:10053639, RGD:10053642 |
NCBI chr11:64,269,828...64,284,704
Ensembl chr11:64,269,830...64,284,704
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G |
BAIAP2 |
BAR/IMD domain containing adaptor protein 2 |
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IEP |
protein:decreased expression:cerebral cortex, postsynaptic density (human) |
RGD |
PMID:23537733 |
RGD:11576299 |
NCBI chr17:81,035,151...81,117,434
Ensembl chr17:81,035,122...81,117,434
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G |
BAK1 |
BCL2 antagonist/killer 1 |
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IEP |
protein:increased expression:temporal cortex, membrane |
RGD |
PMID:9507158 |
RGD:10053642 |
NCBI chr 6:33,572,552...33,580,276
Ensembl chr 6:33,572,547...33,580,293
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G |
BARHL1 |
BarH like homeobox 1 |
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IEP |
protein:decreased expression:brain |
RGD |
PMID:28956815 |
RGD:14390165 |
NCBI chr 9:132,582,606...132,590,252
Ensembl chr 9:132,582,606...132,590,252
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G |
BAX |
BCL2 associated X, apoptosis regulator |
treatment |
ISO IEP EXP |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:18077176 PMID:17639989 PMID:8990132 PMID:16265626 PMID:21585051 PMID:29777699 PMID:29587274 More...
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RGD:2293073, RGD:10054039, RGD:10054047, RGD:10054049, RGD:13782186, RGD:13782188 |
NCBI chr19:48,954,875...48,961,798
Ensembl chr19:48,954,815...48,961,798
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G |
BCAN |
brevican |
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ISO |
protein:altered modification:brain |
RGD |
PMID:20180882 |
RGD:14392785 |
NCBI chr 1:156,642,117...156,659,528
Ensembl chr 1:156,641,390...156,659,532
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G |
BCHE |
butyrylcholinesterase |
severity |
IAGP EXP IEP |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:23022600 PMID:22012848 PMID:16973370 |
RGD:5687327, RGD:5688056 |
NCBI chr 3:165,772,904...165,837,423
Ensembl chr 3:165,772,904...165,837,462
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G |
BCL2 |
BCL2 apoptosis regulator |
treatment |
ISO EXP IEP |
CTD Direct Evidence: marker/mechanism protein:increased expression:temporal cortex, membrane |
CTD RGD |
PMID:18077176 PMID:17639989 PMID:29587274 PMID:29777699 PMID:26897372 PMID:21585051 PMID:16265626 PMID:9507158 More...
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RGD:2293073, RGD:13782188, RGD:13782186, RGD:11522767, RGD:10054049, RGD:10054047, RGD:10053642 |
NCBI chr18:63,123,346...63,320,090
Ensembl chr18:63,123,346...63,320,128
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G |
BCL2L1 |
BCL2 like 1 |
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IEP |
protein:increased expression:temporal cortex, membrane |
RGD |
PMID:9507158 |
RGD:10053642 |
NCBI chr20:31,664,452...31,723,963
Ensembl chr20:31,664,452...31,723,989
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G |
BCL2L2 |
BCL2 like 2 |
treatment |
IEP ISO |
protein:increased expression:hippocampus, cortex |
RGD |
PMID:15147516 PMID:20460763 |
RGD:14394419, RGD:14394421 |
NCBI chr14:23,306,833...23,311,751
Ensembl chr14:23,298,790...23,311,751
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G |
BDNF |
brain derived neurotrophic factor |
treatment no_association onset |
ISO EXP IAGP IEP IEA |
CTD Direct Evidence: marker/mechanism DNA:polymorphisms: :196G>A (p.V66M), 270C>T (human) DNA:polymorphisms, haplotypes: :196G>A (p.V66M), 270C>T, 11757G>C (human) DNA:polymorphism: :p.V66M (human) protein:decreased expression:parietal cortex DNA:SNP:CDS:rs1048218 (human) |
CTD RGD |
PMID:17344400 PMID:20646587 PMID:30776009 PMID:24877042 PMID:16565926 PMID:23215636 PMID:16627933 PMID:12654514 PMID:18780967 PMID:15118671 More...
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RGD:4891131, RGD:405850256, RGD:10059402, RGD:10059346, RGD:10059345, RGD:10059343, RGD:10058980, RGD:5508228, RGD:1331525 |
NCBI chr11:27,654,893...27,722,030
Ensembl chr11:27,654,893...27,722,058
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G |
BECN1 |
beclin 1 |
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IEP ISO |
protein:decreased expression:gray matter |
RGD |
PMID:18497889 PMID:20863706 |
RGD:6483101, RGD:6483102 |
NCBI chr17:42,810,132...42,824,282
Ensembl chr17:42,810,134...42,833,350
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G |
BIN1 |
bridging integrator 1 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21460841 PMID:33589840 |
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NCBI chr 2:127,048,023...127,107,154
Ensembl chr 2:127,048,027...127,107,288
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G |
BMP4 |
bone morphogenetic protein 4 |
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ISO |
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RGD |
PMID:19463786 |
RGD:10414082 |
NCBI chr14:53,949,736...53,956,891
Ensembl chr14:53,949,736...53,958,761
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G |
BPTF |
bromodomain PHD finger transcription factor |
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IEP |
protein:increased expression:microglia: |
RGD |
PMID:9792236 |
RGD:9586059 |
NCBI chr17:67,825,503...67,984,378
Ensembl chr17:67,825,503...67,984,378
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G |
BRIP1 |
BRCA1 interacting helicase 1 |
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IEP |
associated with Down Syndrome;protein:increased ubiquitination:frontal cortex (human) |
RGD |
PMID:25391381 |
RGD:11252150 |
NCBI chr17:61,679,139...61,863,528
Ensembl chr17:61,679,139...61,863,559
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G |
BTG3 |
BTG anti-proliferation factor 3 |
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IAGP |
ClinVar Annotator: match by term: Alzheimer disease |
ClinVar |
PMID:16369530 PMID:16921174 PMID:24691562 |
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NCBI chr21:17,593,653...17,612,901
Ensembl chr21:17,593,653...17,612,945
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G |
C10orf55 |
chromosome 10 putative open reading frame 55 |
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IAGP |
ClinVar Annotator: match by term: Alzheimer disease, late-onset, susceptibility to |
ClinVar |
PMID:12898287 PMID:15615772 PMID:15616835 PMID:16341549 PMID:28492532 |
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NCBI chr10:73,909,969...73,922,777
Ensembl chr10:73,909,969...73,922,777
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G |
C1QB |
complement C1q B chain |
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IEP |
mRNA:increased expression:microglial cell |
RGD |
PMID:1362796 |
RGD:1599518 |
NCBI chr 1:22,653,236...22,661,637
Ensembl chr 1:22,652,762...22,661,637
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G |
C2 |
complement C2 |
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IAGP |
DNA:SNP, haplotype: :p.E318D (rs9332739) (human) |
RGD |
PMID:22300950 |
RGD:7401250 |
NCBI chr 6:31,897,783...31,945,672
Ensembl chr 6:31,897,785...31,945,673
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G |
C21orf91 |
chromosome 21 open reading frame 91 |
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IAGP |
ClinVar Annotator: match by term: Alzheimer disease |
ClinVar |
PMID:16369530 PMID:16921174 PMID:24691562 |
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NCBI chr21:17,788,974...17,819,356
Ensembl chr21:17,788,974...17,819,386
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G |
C3 |
complement C3 |
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IAGP |
DNA:SNP: :rs22300199 (human) |
RGD |
PMID:22300950 |
RGD:7401250 |
NCBI chr19:6,677,704...6,720,650
Ensembl chr19:6,677,704...6,730,562
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G |
C5AR1 |
complement C5a receptor 1 |
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IEP |
protein:decreased expression:brain |
RGD |
PMID:12759460 |
RGD:5130177 |
NCBI chr19:47,307,477...47,322,066
Ensembl chr19:47,290,023...47,322,066
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G |
CACNA1C |
calcium voltage-gated channel subunit alpha1 C |
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ISO |
protein:decreased expression:brain |
RGD |
PMID:23403102 |
RGD:13782264 |
NCBI chr12:1,970,780...2,697,950
Ensembl chr12:1,970,772...2,697,950
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G |
CALM1 |
calmodulin 1 |
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EXP IEP |
CTD Direct Evidence: marker/mechanism protein:decreased expression:cerebellar cortex: |
CTD RGD |
PMID:11470324 PMID:11470324 |
RGD:13792493 |
NCBI chr14:90,396,502...90,408,268
Ensembl chr14:90,396,502...90,408,268
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G |
CALML5 |
calmodulin like 5 |
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IEP |
protein:altered expression:neuron,glia |
RGD |
PMID:11470324 |
RGD:13792493 |
NCBI chr10:5,498,697...5,499,570
Ensembl chr10:5,498,697...5,499,570
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G |
CAMK2A |
calcium/calmodulin dependent protein kinase II alpha |
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IEP |
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RGD |
PMID:15621017 |
RGD:13681926 |
NCBI chr 5:150,219,491...150,290,130
Ensembl chr 5:150,219,491...150,290,093
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G |
CAPN1 |
calpain 1 |
onset |
IEP |
protein:increased activity:brain: |
RGD |
PMID:8622780 PMID:11231011 |
RGD:13792495, RGD:13792663 |
NCBI chr11:65,181,373...65,212,006
Ensembl chr11:65,180,566...65,212,006
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G |
CAPN2 |
calpain 2 |
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IEP |
protein:increased expression:cytosol |
RGD |
PMID:9654354 |
RGD:13792661 |
NCBI chr 1:223,701,597...223,776,018
Ensembl chr 1:223,701,593...223,776,018
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G |
CASP1 |
caspase 1 |
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IEP |
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RGD |
PMID:12633148 |
RGD:13782269 |
NCBI chr11:105,025,443...105,036,686
Ensembl chr11:105,025,397...105,035,250
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G |
CASP12 |
caspase 12 (gene/pseudogene) |
treatment |
ISO |
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RGD |
PMID:29126976 |
RGD:13782165 |
NCBI chr11:104,883,286...104,898,460
Ensembl chr11:104,885,718...104,898,670
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G |
CASP2 |
caspase 2 |
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IEP |
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RGD |
PMID:12633148 |
RGD:13782269 |
NCBI chr 7:143,288,351...143,307,696
Ensembl chr 7:143,288,215...143,307,696
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G |
CASP3 |
caspase 3 |
treatment |
IEP ISO EXP |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:18077176 PMID:10319819 PMID:29642617 PMID:12633148 PMID:29587274 PMID:29777699 More...
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RGD:734692, RGD:13782291, RGD:13782269, RGD:13782188, RGD:13782186 |
NCBI chr 4:184,627,696...184,649,447
Ensembl chr 4:184,627,696...184,650,062
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G |
CASP5 |
caspase 5 |
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IEP |
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RGD |
PMID:12633148 |
RGD:13782269 |
NCBI chr11:104,994,243...105,023,168
Ensembl chr11:104,994,235...105,023,168
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G |
CASP6 |
caspase 6 |
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IEP |
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RGD |
PMID:12633148 |
RGD:13782269 |
NCBI chr 4:109,664,388...109,709,767
Ensembl chr 4:109,688,622...109,703,583
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G |
CASP7 |
caspase 7 |
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IAGP IEP |
DNA:SNPs, haplotype |
RGD |
PMID:26621834 PMID:12633148 |
RGD:11344490, RGD:13782269 |
NCBI chr10:113,679,194...113,730,909
Ensembl chr10:113,679,162...113,730,907
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G |
CASP8 |
caspase 8 |
treatment |
IEP ISO |
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RGD |
PMID:16772874 PMID:12633148 PMID:29642617 |
RGD:13782268, RGD:13782269, RGD:13782291 |
NCBI chr 2:201,233,463...201,287,711
Ensembl chr 2:201,233,443...201,361,836
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G |
CASP9 |
caspase 9 |
treatment |
ISO IEP |
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RGD |
PMID:29777699 PMID:12633148 |
RGD:13782186, RGD:13782269 |
NCBI chr 1:15,491,401...15,524,912
Ensembl chr 1:15,490,832...15,526,534
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G |
CASS4 |
Cas scaffold protein family member 4 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30320580 PMID:33589840 |
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NCBI chr20:56,412,036...56,460,382
Ensembl chr20:56,412,112...56,460,387
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G |
CAST |
calpastatin |
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ISO IEP |
protein:decreased expression:brain |
RGD |
PMID:20595388 PMID:19020018 |
RGD:5509799, RGD:5509809 |
NCBI chr 5:95,961,429...96,774,683
Ensembl chr 5:96,525,267...96,779,595 Ensembl chr 5:96,525,267...96,779,595
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G |
CAV1 |
caveolin 1 |
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ISS |
OMIM:104300 | OMIM:502500 | OMIM:604154 | OMIM:608907 |
MouseDO |
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NCBI chr 7:116,525,009...116,561,185
Ensembl chr 7:116,524,994...116,561,179
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G |
CCDC6 |
coiled-coil domain containing 6 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:33589840 |
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NCBI chr10:59,788,747...59,906,556
Ensembl chr10:59,788,747...59,906,556
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G |
CCL5 |
C-C motif chemokine ligand 5 |
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IEP |
mRNA:increased expression:cerebrum, blood vessels (human) |
RGD |
PMID:18440671 |
RGD:4890025 |
NCBI chr17:35,871,491...35,880,360
Ensembl chr17:35,871,491...35,880,793
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G |
CCNG1 |
cyclin G1 |
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IEP |
protein:increased expression:brain, neuron |
RGD |
PMID:12214116 |
RGD:2316025 |
NCBI chr 5:163,437,571...163,457,640
Ensembl chr 5:163,437,569...163,446,151
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G |
CCR1 |
C-C motif chemokine receptor 1 |
severity |
IEP |
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RGD |
PMID:14595653 |
RGD:5688166 |
NCBI chr 3:46,201,711...46,208,313
Ensembl chr 3:46,201,711...46,208,313
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G |
CCR5 |
C-C motif chemokine receptor 5 |
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IEP ISO |
protein:increased expression:brain, microglia (human) |
RGD |
PMID:9665462 PMID:15979806 |
RGD:4890447, RGD:4890446 |
NCBI chr 3:46,370,142...46,376,206
Ensembl chr 3:46,370,946...46,376,206
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G |
CD2AP |
CD2 associated protein |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21460840 PMID:21460841 PMID:30320580 |
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NCBI chr 6:47,477,789...47,627,263
Ensembl chr 6:47,477,789...47,627,263
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G |
CD33 |
CD33 molecule |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21460840 PMID:21460841 |
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NCBI chr19:51,211,076...51,240,016
Ensembl chr19:51,225,064...51,243,860
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G |
CD36 |
CD36 molecule (CD36 blood group) |
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IEP |
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RGD |
PMID:16563568 |
RGD:6893531 |
NCBI chr 7:80,602,207...80,679,274
Ensembl chr 7:80,369,575...80,679,277
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G |
CD40 |
CD40 molecule |
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ISO |
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RGD |
PMID:21414686 |
RGD:5490302 |
NCBI chr20:46,118,314...46,129,858
Ensembl chr20:46,118,271...46,129,863
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G |
CD40LG |
CD40 ligand |
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IEP ISO |
protein:increased expression:frontal cortex, astrocyte |
RGD |
PMID:11755016 PMID:11755016 |
RGD:8547803, RGD:8547803 |
NCBI chr X:136,648,158...136,660,390
Ensembl chr X:136,648,158...136,660,390
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G |
CDC42 |
cell division cycle 42 |
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IEP |
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RGD |
PMID:10817927 |
RGD:5688277 |
NCBI chr 1:22,052,709...22,101,360
Ensembl chr 1:22,052,627...22,101,360
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G |
CDK5 |
cyclin dependent kinase 5 |
treatment |
ISO IAGP |
DNA:SNP:intron:g.149800G>C (human) |
RGD |
PMID:28269780 PMID:15917097 PMID:28085018 |
RGD:13508590, RGD:13782365, RGD:13792587 |
NCBI chr 7:151,053,815...151,057,897
Ensembl chr 7:151,053,815...151,057,897
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G |
CDK5R1 |
cyclin dependent kinase 5 regulatory subunit 1 |
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IEP IAGP ISO |
DNA:SNP:3' UTR:rs735555 (human) |
RGD |
PMID:28578378 PMID:19154537 PMID:24725413 |
RGD:13782362, RGD:13782364, RGD:13782363 |
NCBI chr17:32,486,993...32,491,253
Ensembl chr17:32,486,993...32,491,253
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G |
CDK7 |
cyclin dependent kinase 7 |
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IEP |
protein:increased expression:neuron: |
RGD |
PMID:11124424 |
RGD:10059352 |
NCBI chr 5:69,234,795...69,277,430
Ensembl chr 5:69,234,795...69,277,430
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G |
CEBPA |
CCAAT enhancer binding protein alpha |
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ISO IEP |
protein:decreased expression:forebrain, hindbrain (mouse) mRNA:increased expression:hippocampus (human) |
RGD |
PMID:21492414 PMID:14769913 |
RGD:10401190, RGD:10401224 |
NCBI chr19:33,299,934...33,302,534
Ensembl chr19:33,299,934...33,302,534
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G |
CEBPB |
CCAAT enhancer binding protein beta |
treatment |
IEP ISO |
mRNA:increased expression:hippocampus CA1 (human) |
RGD |
PMID:12391607 PMID:23911420 |
RGD:10401229, RGD:10401268 |
NCBI chr20:50,190,583...50,192,690
Ensembl chr20:50,190,830...50,192,668
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G |
CFTR |
CF transmembrane conductance regulator |
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IEP |
protein:decreased expression:hypothalamus |
RGD |
PMID:14757935 |
RGD:11566025 |
NCBI chr 7:117,480,025...117,668,665
Ensembl chr 7:117,287,120...117,715,971
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G |
CHAT |
choline O-acetyltransferase |
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ISO IAGP |
DNA:polymorphism:CDS:4G>A |
RGD |
PMID:16834974 PMID:12401548 |
RGD:1600851, RGD:1358495 |
NCBI chr10:49,609,095...49,667,942
Ensembl chr10:49,609,095...49,667,942
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G |
CHODL |
chondrolectin |
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IAGP |
ClinVar Annotator: match by term: Alzheimer disease |
ClinVar |
PMID:16369530 PMID:16921174 PMID:24691562 |
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NCBI chr21:17,917,340...18,267,370
Ensembl chr21:17,901,263...18,267,373
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G |
CHRNA4 |
cholinergic receptor nicotinic alpha 4 subunit |
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IEP |
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RGD |
PMID:15465084 |
RGD:1358509 |
NCBI chr20:63,343,223...63,361,349
Ensembl chr20:63,343,223...63,378,401
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G |
CHRNA7 |
cholinergic receptor nicotinic alpha 7 subunit |
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IEP EXP |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:18071042 PMID:15465084 |
RGD:1358509 |
NCBI chr15:32,030,483...32,173,018
Ensembl chr15:31,923,438...32,173,018
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G |
CHRNB2 |
cholinergic receptor nicotinic beta 2 subunit |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17192785 |
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NCBI chr 1:154,567,778...154,580,013
Ensembl chr 1:154,567,778...154,580,013
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G |
CIB1 |
calcium and integrin binding 1 |
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ISO |
protein:decreased expression:brain (human) |
RGD |
PMID:15885068 |
RGD:10401854 |
NCBI chr15:90,229,975...90,265,759
Ensembl chr15:90,229,975...90,234,047
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G |
CLOCK |
clock circadian regulator |
susceptibility |
IAGP |
DNA:snp:intron:c.982+247G>C (rs1554483) (human) DNA:snp:3' utr:c.3111T>C (human) DNA:snp:intron:c.560-1279C>G (rs4580704) (human) |
RGD |
PMID:23781009 PMID:23912676 PMID:23357097 |
RGD:10401861, RGD:10401872, RGD:10401862 |
NCBI chr 4:55,427,903...55,546,909
Ensembl chr 4:55,427,903...55,546,909
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G |
CLU |
clusterin |
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IEP EXP IAGP |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Alzheimer disease |
CTD ClinVar RGD |
PMID:19734902 PMID:19734903 PMID:21460841 PMID:28492532 PMID:29476165 PMID:9560017 More...
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RGD:8903235 |
NCBI chr 8:27,596,917...27,614,700
Ensembl chr 8:27,596,917...27,614,700
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G |
CNP |
2',3'-cyclic nucleotide 3' phosphodiesterase |
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ISO |
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RGD |
PMID:21918687 |
RGD:6483333 |
NCBI chr17:41,966,795...41,977,740
Ensembl chr17:41,966,763...41,977,740
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G |
COX7C |
cytochrome c oxidase subunit 7C |
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IEP |
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RGD |
PMID:28474567 |
RGD:13792588 |
NCBI chr 5:86,617,941...86,620,962
Ensembl chr 5:86,617,928...86,620,962
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G |
CR1 |
complement C3b/C4b receptor 1 (Knops blood group) |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19734903 PMID:21460841 |
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NCBI chr 1:207,496,157...207,641,765
Ensembl chr 1:207,496,147...207,641,765
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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 chr16:3,725,054...3,880,713
Ensembl chr16:3,725,054...3,880,713
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G |
CRH |
corticotropin releasing hormone |
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IEP EXP |
protein:decreased expression:cerebral cortex (human) CTD Direct Evidence: therapeutic |
CTD RGD |
PMID:7477348 PMID:7477348 |
RGD:5508831 |
NCBI chr 8:66,176,376...66,178,464
Ensembl chr 8:66,176,376...66,178,464
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G |
CRP |
C-reactive protein |
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ISO |
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RGD |
PMID:22202667 |
RGD:6904208 |
NCBI chr 1:159,712,289...159,714,589
Ensembl chr 1:159,712,289...159,714,589
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G |
CSF1R |
colony stimulating factor 1 receptor |
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IAGP |
ClinVar Annotator: match by term: Alzheimer disease |
ClinVar |
PMID:30279455 |
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NCBI chr 5:150,053,295...150,113,365
Ensembl chr 5:150,053,291...150,113,372
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G |
CSNK1A1 |
casein kinase 1 alpha 1 |
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IEP |
protein:increased expression:CA1 field of hippocampus: |
RGD |
PMID:10514399 |
RGD:10395229 |
NCBI chr 5:149,492,982...149,551,439
Ensembl chr 5:149,492,982...149,551,471
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G |
CSNK1D |
casein kinase 1 delta |
severity |
IEP |
protein:increased expression:CA1 field of hippocampus: mRNA,protein:increased expression:brain: |
RGD |
PMID:10514399 PMID:10814741 |
RGD:10395229, RGD:10395230 |
NCBI chr17:82,239,019...82,273,750
Ensembl chr17:82,239,023...82,273,700
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G |
CSNK1E |
casein kinase 1 epsilon |
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IEP |
protein:increased expression:CA1 field of hippocampus: |
RGD |
PMID:10514399 |
RGD:10395229 |
NCBI chr22:38,290,691...38,318,084
Ensembl chr22:38,290,691...38,318,084
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G |
CST3 |
cystatin C |
susceptibility |
IEP EXP |
protein:decreased expression:serum (human) protein:increased expression:plasma CTD Direct Evidence: marker/mechanism|therapeutic |
CTD RGD |
PMID:17192785 PMID:18026100 PMID:18824671 PMID:15907478 |
RGD:2314333, RGD:1358533 |
NCBI chr20:23,626,706...23,637,955
Ensembl chr20:23,626,706...23,638,473
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G |
CTNNB1 |
catenin beta 1 |
treatment |
IEP ISO |
protein:increased expression:neuron,cytoplasm: protein:decreased expression:hippocampus protein:decreased expression:nucleus: |
RGD |
PMID:15781969 PMID:12610652 PMID:11226152 |
RGD:10395258, RGD:10395276, RGD:1302533 |
NCBI chr 3:41,199,505...41,240,443
Ensembl chr 3:41,194,741...41,260,096
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G |
CTSD |
cathepsin D |
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IAGP IEP |
protein:decreased expression:lymphocyte: |
RGD |
PMID:11304834 PMID:15907478 |
RGD:1358532, RGD:1358533 |
NCBI chr11:1,752,755...1,763,927
Ensembl chr11:1,752,752...1,764,573
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G |
CTSS |
cathepsin S |
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IEP |
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RGD |
PMID:7717452 |
RGD:5686914 |
NCBI chr 1:150,730,188...150,765,778
Ensembl chr 1:150,730,079...150,765,957
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G |
CXADR |
CXADR Ig-like cell adhesion molecule |
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IAGP |
ClinVar Annotator: match by term: Alzheimer disease |
ClinVar |
PMID:16369530 PMID:16921174 PMID:24691562 |
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NCBI chr21:17,513,043...17,636,262
Ensembl chr21:17,513,043...17,593,579
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G |
CYP19A1 |
cytochrome P450 family 19 subfamily A member 1 |
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IEP IAGP |
mRNA:altered expression:cerebellum, hippocampus (human) DNA:polymorphism |
RGD |
PMID:18180323 PMID:16882736 |
RGD:4889108, RGD:1600861 |
NCBI chr15:51,208,057...51,338,596
Ensembl chr15:51,208,057...51,338,601
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G |
CYP2D6 |
cytochrome P450 family 2 subfamily D member 6 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:7574463 |
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NCBI chr22:42,126,499...42,130,810
Ensembl chr22:42,126,499...42,130,865
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G |
CYP46A1 |
cytochrome P450 family 46 subfamily A member 1 |
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IAGP EXP |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:19286353 PMID:12232784 |
RGD:1358575 |
NCBI chr14:99,684,298...99,727,301
Ensembl chr14:99,684,298...99,727,301
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G |
CYYR1 |
cysteine and tyrosine rich 1 |
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IAGP |
ClinVar Annotator: match by term: Alzheimer disease |
ClinVar |
PMID:16369530 PMID:16921174 PMID:24691562 PMID:25741868 |
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NCBI chr21:26,466,216...26,573,286
Ensembl chr21:26,466,209...26,573,286
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G |
DBN1 |
drebrin 1 |
disease_progression |
IEP ISO |
protein:decreased expression:hippocampal formation: mRNA:decreased expression:parietal cortex, temporal cortex, hippocampus: protein:decreased expression:hippocampus,neuronal spine: |
RGD |
PMID:8838578 PMID:18338803 PMID:17912741 |
RGD:10395286, RGD:10398821, RGD:10398820 |
NCBI chr 5:177,456,610...177,473,634
Ensembl chr 5:177,456,608...177,474,401
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G |
DDR1 |
discoidin domain receptor tyrosine kinase 1 |
treatment |
ISO |
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RGD |
PMID:28863860 |
RGD:150519888 |
NCBI chr 6:30,880,970...30,900,156
Ensembl chr 6:30,876,421...30,900,156
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G |
DHCR24 |
24-dehydrocholesterol reductase |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23042211 |
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NCBI chr 1:54,849,627...54,887,195
Ensembl chr 1:54,849,627...54,887,195
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G |
DLG4 |
discs large MAGUK scaffold protein 4 |
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IEP |
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RGD |
PMID:24156266 |
RGD:13792688 |
NCBI chr17:7,187,187...7,220,050
Ensembl chr17:7,187,187...7,219,836
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G |
DLST |
dihydrolipoamide S-succinyltransferase |
susceptibility |
IAGP |
DNA:polymorphisms: : |
RGD |
PMID:10227647 |
RGD:1358587 |
NCBI chr14:74,881,916...74,903,743
Ensembl chr14:74,881,891...74,903,743
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G |
DNM1 |
dynamin 1 |
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IEP ISO |
protein:decreased expression:hippocampus,entorhinal cortex: mRNA,protein:decreased expression:hippocampus, temporal cortex denntate gyrus, hippocampus, entorhinal cortex |
RGD |
PMID:20847448 PMID:20847448 PMID:20847448 |
RGD:13506238, RGD:13506238, RGD:13506238 |
NCBI chr 9:128,203,379...128,255,244
Ensembl chr 9:128,191,655...128,255,248
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G |
DNM1L |
dynamin 1 like |
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IEP |
protein:decreased expression:hippocampus (human) |
RGD |
PMID:19605646 |
RGD:7800727 |
NCBI chr12:32,679,301...32,745,650
Ensembl chr12:32,679,200...32,745,650
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G |
DPYSL2 |
dihydropyrimidinase like 2 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19374891 |
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NCBI chr 8:26,514,031...26,658,175
Ensembl chr 8:26,514,031...26,658,178
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G |
DRD1 |
dopamine receptor D1 |
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IEP |
protein:decreased expression:frontal cortex, neuron |
RGD |
PMID:17182012 |
RGD:5686412 |
NCBI chr 5:175,440,036...175,444,182
Ensembl chr 5:175,440,036...175,444,182
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G |
DRD2 |
dopamine receptor D2 |
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IEP |
protein:decreased expression:blood, lymphocyte |
RGD |
PMID:11087905 |
RGD:5686416 |
NCBI chr11:113,409,605...113,475,398
Ensembl chr11:113,409,605...113,475,691
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G |
DRD3 |
dopamine receptor D3 |
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IEP |
protein:decreased expression:frontal cortex, neuron |
RGD |
PMID:17182012 |
RGD:5686412 |
NCBI chr 3:114,127,580...114,199,407
Ensembl chr 3:114,127,580...114,199,407
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G |
DRD4 |
dopamine receptor D4 |
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IEP |
protein:decreased expression:frontal cortex, neuron |
RGD |
PMID:17182012 |
RGD:5686412 |
NCBI chr11:637,269...640,706
Ensembl chr11:637,269...640,706
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G |
DRD5 |
dopamine receptor D5 |
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IEP |
protein:increased expression:frontal cortex, neuron |
RGD |
PMID:17182012 |
RGD:5686412 |
NCBI chr 4:9,781,634...9,784,009
Ensembl chr 4:9,781,634...9,784,009
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G |
DYNC1H1 |
dynein cytoplasmic 1 heavy chain 1 |
|
IEP |
protein:increased expression:brain |
RGD |
PMID:9402150 |
RGD:13207349 |
NCBI chr14:101,964,573...102,056,443
Ensembl chr14:101,964,573...102,056,443
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G |
E2F1 |
E2F transcription factor 1 |
|
IEP |
protein:increased expression:cerebral cortex,cytoplasm: |
RGD |
PMID:11939591 |
RGD:10401093 |
NCBI chr20:33,675,477...33,686,385
Ensembl chr20:33,675,477...33,686,385
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G |
ECE1 |
endothelin converting enzyme 1 |
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IAGP |
|
RGD |
PMID:15340356 |
RGD:1580902 |
NCBI chr 1:21,217,250...21,345,504
Ensembl chr 1:21,217,247...21,345,572
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G |
EEF1A2 |
eukaryotic translation elongation factor 1 alpha 2 |
|
IEP |
protein:increased expression:CA1field of hippocampus: |
RGD |
PMID:8750861 |
RGD:10401216 |
NCBI chr20:63,488,014...63,499,083
Ensembl chr20:63,488,013...63,499,239
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G |
EEF2 |
eukaryotic translation elongation factor 2 |
|
IEP |
protein:hyperphosphorylation:brain: |
RGD |
PMID:1331687 |
RGD:10401652 |
NCBI chr19:3,976,056...3,985,463
Ensembl chr19:3,976,056...3,985,463
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G |
EEF2K |
eukaryotic elongation factor 2 kinase |
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IEP |
|
RGD |
PMID:16098202 |
RGD:10401651 |
NCBI chr16:22,206,278...22,288,738
Ensembl chr16:22,206,278...22,288,738
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G |
EGF |
epidermal growth factor |
|
IEP |
protein:decreased expression:platelet |
RGD |
PMID:21875409 |
RGD:10059680 |
NCBI chr 4:109,912,883...110,013,766
Ensembl chr 4:109,912,883...110,013,766
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G |
EGFR |
epidermal growth factor receptor |
treatment |
ISO |
|
RGD |
PMID:23019586 |
RGD:10059684 |
NCBI chr 7:55,019,017...55,211,628
Ensembl chr 7:55,019,017...55,211,628
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G |
EGR1 |
early growth response 1 |
treatment |
IEP ISO |
protein:increased expression:temporal cortex, hippocampus (human) |
RGD |
PMID:21489990 PMID:23642031 PMID:21969301 |
RGD:5131647, RGD:10395279, RGD:10395277 |
NCBI chr 5:138,465,479...138,469,303
Ensembl chr 5:138,465,479...138,469,303
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G |
EIF2AK2 |
eukaryotic translation initiation factor 2 alpha kinase 2 |
|
ISO IDA |
protein:increased threonine phosphorylation:hippocampus |
RGD |
PMID:24315369 PMID:15567511 |
RGD:10395344, RGD:10395348 |
NCBI chr 2:37,099,210...37,156,980
Ensembl chr 2:37,099,210...37,157,522
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G |
EIF2S1 |
eukaryotic translation initiation factor 2 subunit alpha |
severity |
IDA EXP ISO IEP |
CTD Direct Evidence: marker/mechanism protein:increased phosphorylation:hippocampus |
CTD RGD |
PMID:17406652 PMID:16691116 PMID:24315369 PMID:16954686 |
RGD:10395316, RGD:10395344, RGD:10395343 |
NCBI chr14:67,360,328...67,386,516
Ensembl chr14:67,360,328...67,386,516
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G |
ELK1 |
ETS transcription factor ELK1 |
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IEP |
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RGD |
PMID:20126313 |
RGD:7488914 |
NCBI chr X:47,635,520...47,650,604
Ensembl chr X:47,635,521...47,650,604
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G |
ENO1 |
enolase 1 |
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EXP IDA |
CTD Direct Evidence: marker/mechanism protein:increased S-glutathionylation, decreased activity:inferior parietal cortex |
CTD RGD |
PMID:19374891 PMID:17387692 |
RGD:13792613 |
NCBI chr 1:8,861,000...8,878,686
Ensembl chr 1:8,861,000...8,879,190
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G |
EP300 |
E1A binding protein p300 |
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IEP |
mRNA:increased expression:temporal cortex (human) |
RGD |
PMID:23585551 |
RGD:7327146 |
NCBI chr22:41,092,592...41,180,077
Ensembl chr22:41,092,510...41,180,077
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G |
EPHA1 |
EPH receptor A1 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21460840 PMID:21460841 |
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NCBI chr 7:143,391,129...143,408,856
Ensembl chr 7:143,390,289...143,408,856
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G |
EPHA4 |
EPH receptor A4 |
|
IEP ISO |
protein:decreased expression:hippocampus |
RGD |
PMID:19542617 PMID:19542617 |
RGD:6218956, RGD:6218956 |
NCBI chr 2:221,418,027...221,574,202
Ensembl chr 2:221,418,027...221,574,202
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G |
EPHB2 |
EPH receptor B2 |
ameliorates |
ISO |
|
RGD |
PMID:21113149 |
RGD:12859080 |
NCBI chr 1:22,710,838...22,921,500
Ensembl chr 1:22,710,839...22,921,500
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G |
EPHX1 |
epoxide hydrolase 1 |
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IEP |
protein:increased expression:hippocampus |
RGD |
PMID:16630050 |
RGD:5688388 |
NCBI chr 1:225,810,124...225,845,563
Ensembl chr 1:225,810,124...225,845,563
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G |
EPO |
erythropoietin |
treatment |
IDA |
|
RGD |
PMID:22004348 PMID:23813967 |
RGD:10395389, RGD:10400882 |
NCBI chr 7:100,720,468...100,723,700
Ensembl chr 7:100,720,468...100,723,700
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G |
EPOR |
erythropoietin receptor |
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IEP |
protein:increased expression:brain, astrocyte |
RGD |
PMID:17483696 |
RGD:10395387 |
NCBI chr19:11,377,207...11,384,314
Ensembl chr19:11,377,207...11,384,342
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G |
ERCC2 |
ERCC excision repair 2, TFIIH core complex helicase subunit |
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IEP |
protein:increased expression:brain |
RGD |
PMID:9714461 |
RGD:5688738 |
NCBI chr19:45,349,837...45,370,573
Ensembl chr19:45,349,837...45,370,918
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G |
ERCC3 |
ERCC excision repair 3, TFIIH core complex helicase subunit |
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IEP |
protein:increased expression:brain |
RGD |
PMID:9714461 |
RGD:5688738 |
NCBI chr 2:127,257,290...127,294,144
Ensembl chr 2:127,257,290...127,294,166
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G |
ESR1 |
estrogen receptor 1 |
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IAGP EXP |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:17192785 PMID:10558867 |
RGD:1358612 |
NCBI chr 6:151,656,672...152,129,619
Ensembl chr 6:151,656,691...152,129,619
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G |
ESR2 |
estrogen receptor 2 |
susceptibility |
IAGP ISO IEP |
DNA:SNPs:3' utr: (rs4986938), (rs1255953) (human) mRNA:increased expression:cerebral cortex protein:decreased expression:choroid plexus DNA:snps:introns:IVS3-1880C>T, IVS4+1231C>T (rs1271573, rs1256043) (human) |
RGD |
PMID:17132983 PMID:15916731 PMID:15082146 PMID:15944651 |
RGD:5508768, RGD:5508772, RGD:5508784, RGD:8693346 |
NCBI chr14:64,226,707...64,338,613
Ensembl chr14:64,084,232...64,338,112
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G |
F2 |
coagulation factor II, thrombin |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:8333868 |
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NCBI chr11:46,719,213...46,739,506
Ensembl chr11:46,719,196...46,739,506
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G |
FABP3 |
fatty acid binding protein 3 |
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IEP |
protein:decreased expression:cerebral cortex (human) |
RGD |
PMID:15068254 |
RGD:1578460 |
NCBI chr 1:31,359,588...31,373,076
Ensembl chr 1:31,365,253...31,376,850
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G |
FADD |
Fas associated via death domain |
|
IEP |
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RGD |
PMID:16085017 |
RGD:13782385 |
NCBI chr11:70,203,296...70,207,390
Ensembl chr11:70,203,296...70,207,390
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G |
FAS |
Fas cell surface death receptor |
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IEP IAGP |
protein:increased expression:brain, plaque (human) DNA:snp:promoter:g.-670G>A (human) |
RGD |
PMID:12742739 PMID:11129341 |
RGD:8663481, RGD:1358615 |
NCBI chr10:88,964,050...89,017,059
Ensembl chr10:88,953,813...89,029,605
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G |
FGF1 |
fibroblast growth factor 1 |
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IEP |
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RGD |
PMID:20079650 |
RGD:5509878 |
NCBI chr 5:142,592,178...142,698,070
Ensembl chr 5:142,592,178...142,698,070
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G |
FGFR1 |
fibroblast growth factor receptor 1 |
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IEP |
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RGD |
PMID:9748519 |
RGD:10402073 |
NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834
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G |
FIS1 |
fission, mitochondrial 1 |
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IEP |
protein:increased expression:hippocampus (human) |
RGD |
PMID:19605646 |
RGD:7800727 |
NCBI chr 7:101,239,472...101,245,081
Ensembl chr 7:101,239,458...101,252,316
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G |
FOXO3 |
forkhead box O3 |
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IEP ISO |
protein:increased expression:lymphoblast,nucleus: protein:increased expression:hippocampal neuron (mouse) mRNA:increased expression:brain: protein:altered expression:cortical neuron,nucleus: |
RGD |
PMID:23153928 PMID:28157684 PMID:23585551 PMID:23661003 |
RGD:10402185, RGD:11061905, RGD:7327146, RGD:10402187 |
NCBI chr 6:108,559,825...108,684,774
Ensembl chr 6:108,559,835...108,684,774
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G |
FXYD6 |
FXYD domain containing ion transport regulator 6 |
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IEP |
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RGD |
PMID:19760337 |
RGD:13801191 |
NCBI chr11:117,836,981...117,877,430
Ensembl chr11:117,836,976...117,877,486
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G |
FYN |
FYN proto-oncogene, Src family tyrosine kinase |
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IEP IAGP |
protein:decreased expression:cerebral cortex, soluble fraction (human) |
RGD |
PMID:15708437 PMID:14999081 |
RGD:1358602, RGD:1358600 |
NCBI chr 6:111,660,332...111,873,452
Ensembl chr 6:111,660,332...111,873,452
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G |
GABPA |
GA binding protein transcription factor subunit alpha |
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IAGP |
ClinVar Annotator: match by term: Alzheimer disease |
ClinVar |
PMID:16369530 PMID:16921174 PMID:22491860 PMID:24691562 PMID:25741868 PMID:28492532 More...
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NCBI chr21:25,734,972...25,772,460
Ensembl chr21:25,734,570...25,772,460
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G |
GAPDH |
glyceraldehyde-3-phosphate dehydrogenase |
onset susceptibility |
IAGP ISO IDA IEP |
DNA:snps:5' utr, intron: (rs3741916, rs1060621) (human) protein:decreased activity:cerebral cortex, cerebellum protein:decreased activity:cerebral cortex, hippocampus protein:increased S-glutathionylation, decreased activity:inferior parietal cortex DNA:SNPs, haplotypes: :rs740850, rs1060620 (human) DNA:SNP:5' utr:rs3741916 (human) |
RGD |
PMID:15507493 PMID:17324518 PMID:17324518 PMID:17387692 PMID:18340469 PMID:20864222 PMID:28087189 More...
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RGD:1358618, RGD:13792614, RGD:13792614, RGD:13792613, RGD:13792612, RGD:13792611, RGD:13792604 |
NCBI chr12:6,534,517...6,538,371
Ensembl chr12:6,534,512...6,538,374
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G |
GAPDHS |
glyceraldehyde-3-phosphate dehydrogenase, spermatogenic |
onset |
IAGP EXP |
DNA:snps:promoter, intron: (rs4806173, rs12984928) (human) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:17192785 PMID:15507493 |
RGD:1358618 |
NCBI chr19:35,533,456...35,545,319
Ensembl chr19:35,533,455...35,545,319
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G |
GCG |
glucagon |
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IDA |
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RGD |
PMID:23035082 |
RGD:10402366 |
NCBI chr 2:162,142,882...162,152,247
Ensembl chr 2:162,142,882...162,152,404
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G |
GDNF |
glial cell derived neurotrophic factor |
treatment |
IEP ISO |
mRNA, protein:alternate form, decreased expression:brain |
RGD |
PMID:22081608 PMID:30776009 |
RGD:5688777, RGD:405850256 |
NCBI chr 5:37,812,677...37,840,041
Ensembl chr 5:37,812,677...37,840,041
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G |
GHRH |
growth hormone releasing hormone |
treatment |
ISO |
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RGD |
PMID:23211425 |
RGD:10401233 |
NCBI chr20:37,251,086...37,261,814
Ensembl chr20:37,251,086...37,261,819
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G |
GLUD1 |
glutamate dehydrogenase 1 |
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IEP |
protein:increased expression:brain protein:increased expression, decreased oxidation:brain |
RGD |
PMID:16341942 PMID:16298240 |
RGD:6484555, RGD:6484556 |
NCBI chr10:87,050,202...87,094,843
Ensembl chr10:87,050,202...87,094,843
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G |
GLUL |
glutamate-ammonia ligase |
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IEP IDA |
protein:increased expression:cerebrospinal fluid:significant increase in active protein vs normal patients and controls with other neurological disorders protein:increased oxidation:brain |
RGD |
PMID:1361232 PMID:12160938 |
RGD:2301429, RGD:2301427 |
NCBI chr 1:182,378,098...182,391,790
Ensembl chr 1:182,378,098...182,392,206
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G |
GNAS |
GNAS complex locus |
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IEP |
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RGD |
PMID:8012802 |
RGD:10401266 |
NCBI chr20:58,839,748...58,911,192
Ensembl chr20:58,839,718...58,911,192
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G |
GRID2IP |
Grid2 interacting protein |
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IAGP |
ClinVar Annotator: match by term: Alzheimer disease, early onset |
ClinVar |
PMID:25741868 |
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NCBI chr 7:6,496,778...6,551,461
Ensembl chr 7:6,496,778...6,551,461
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G |
GRIN1 |
glutamate ionotropic receptor NMDA type subunit 1 |
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IEP |
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RGD |
PMID:24156266 |
RGD:13792688 |
NCBI chr 9:137,139,154...137,168,756
Ensembl chr 9:137,138,346...137,168,756
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G |
GRIN2A |
glutamate ionotropic receptor NMDA type subunit 2A |
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IEP |
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RGD |
PMID:24156266 |
RGD:13792688 |
NCBI chr16:9,753,404...10,182,908
Ensembl chr16:9,753,404...10,182,928
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G |
GRIN2B |
glutamate ionotropic receptor NMDA type subunit 2B |
no_association |
IEP IAGP |
DNA:SNPs:promoter, exon, 3' utr:-200T>G (rs1019385), 2664C>T (rs1806201), 5072G>T (rs890) (human) DNA:SNPs:promoter:-200T>G (rs1019385), -1447T>C, -1497G>A (rs12368476) (human) DNA:SNP:promoter:-421C>A (rs3764028) (human) DNA:SNP: :2664C>T (rs1806201) (human) DNA:SNP, haplotype: :rs1806201 (human) |
RGD |
PMID:24156266 PMID:18303265 PMID:18983893 PMID:18983893 PMID:24292895 PMID:24292895 More...
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RGD:13792688, RGD:13792714, RGD:13792713, RGD:13792713, RGD:13792709, RGD:13792709 |
NCBI chr12:13,537,337...13,982,134
Ensembl chr12:13,437,942...13,982,002
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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 chr10:119,207,571...119,459,745
Ensembl chr10:119,207,571...119,459,745
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G |
GRN |
granulin precursor |
severity onset |
IAGP ISO |
DNA:SNP:3'UTR:rs5848(human) ClinVar Annotator: match by term: Alzheimer disease DNA:SNPs: :rs5848, rs850713, rs4792939 (human) DNA:mutations: : mRNA, protein:increased expression:microglia, neuron: DNA:deletion:exon:c.154delA(human) |
ClinVar RGD |
PMID:16199547 PMID:16862116 PMID:16950801 PMID:22608501 PMID:28492532 PMID:30279455 PMID:31031559 PMID:20197700 PMID:19016491 PMID:18565828 PMID:19557827 PMID:20142525 More...
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RGD:5509600, RGD:10401636, RGD:5509616, RGD:5509606, RGD:5509601 |
NCBI chr17:44,345,302...44,353,106
Ensembl chr17:44,345,246...44,353,106
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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 chr19:42,230,190...42,242,602
Ensembl chr19:42,226,225...42,242,625
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G |
GSK3B |
glycogen synthase kinase 3 beta |
treatment |
ISO IAGP EXP |
DNA:SNP:promoter:rs334558 (human) CTD Direct Evidence: marker/mechanism protein:decreased phosphorylation:hippocampus: DNA:altered methylation:CpG island: |
CTD RGD |
PMID:17409235 PMID:22944069 PMID:11226152 PMID:29257340 PMID:27893738 PMID:19154537 PMID:22623685 PMID:22982863 PMID:22048123 PMID:24101602 More...
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RGD:1302533, RGD:13792777, RGD:13792736, RGD:13782364, RGD:10401801, RGD:10045670, RGD:10045669, RGD:10045668 |
NCBI chr 3:119,821,321...120,094,447
Ensembl chr 3:119,821,321...120,094,994
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G |
GSR |
glutathione-disulfide reductase |
treatment |
IEP ISO |
protein:decreased expression:blood mRNA:increased expression:hippocampus |
RGD |
PMID:17721818 PMID:21376020 PMID:19374888 PMID:10096042 |
RGD:10401827, RGD:10401857, RGD:10401849, RGD:10401847 |
NCBI chr 8:30,678,066...30,727,846
Ensembl chr 8:30,678,066...30,727,846
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G |
GSS |
glutathione synthetase |
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IDA |
|
RGD |
PMID:15693022 |
RGD:5508441 |
NCBI chr20:34,928,432...34,956,027
Ensembl chr20:34,928,432...34,956,027
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G |
GSTM3 |
glutathione S-transferase mu 3 |
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IAGP IEP |
DNA:SNP:cds: rs7483 (human) |
RGD |
PMID:18423940 PMID:15621212 |
RGD:5688729, RGD:5688745 |
NCBI chr 1:109,733,937...109,741,038
Ensembl chr 1:109,733,932...109,741,038
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G |
GSTO1 |
glutathione S-transferase omega 1 |
onset susceptibility no_association |
IAGP |
DNA:polymorphism:exon:p. A140D (rs4925) (human) |
RGD |
PMID:14570706 PMID:20818931 PMID:15917099 |
RGD:1358651, RGD:5490521, RGD:5490514 |
NCBI chr10:104,254,173...104,267,455
Ensembl chr10:104,235,356...104,267,459
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G |
GSTO2 |
glutathione S-transferase omega 2 |
onset no_association |
IAGP |
DDNA:polymorphism: : -183 A>G (rs2297235)(human) DNA:polymorphism:promoter: -183 A>G (rs2297235)(human) |
RGD |
PMID:14570706 PMID:15917099 |
RGD:1358651, RGD:5490514 |
NCBI chr10:104,269,184...104,304,950
Ensembl chr10:104,268,873...104,304,950
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G |
GSTP1 |
glutathione S-transferase pi 1 |
susceptibility onset |
IAGP ISO |
mRNA:decreased expression:cerebral cortex DNA:polymorphisms DNA:polymorphism:exon: |
RGD |
PMID:15805147 PMID:23211594 PMID:24584466 PMID:17911365 |
RGD:5490123, RGD:10401913, RGD:10401912, RGD:5490271 |
NCBI chr11:67,583,812...67,586,653
Ensembl chr11:67,583,742...67,586,656
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G |
GSTT1 |
glutathione S-transferase theta 1 |
susceptibility onset |
IAGP |
DNA:deletion: : |
RGD |
PMID:10215103 PMID:17911365 |
RGD:5490213, RGD:5490271 |
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G |
GUCY1B1 |
guanylate cyclase 1 soluble subunit beta 1 |
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IEP |
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RGD |
PMID:15571982 |
RGD:10401946 |
NCBI chr 4:155,759,021...155,807,811
Ensembl chr 4:155,758,992...155,807,811
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G |
HADHA |
hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha |
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IEP |
protein:decreased expression:brain |
RGD |
PMID:25260493 |
RGD:10047114 |
NCBI chr 2:26,190,635...26,244,632
Ensembl chr 2:26,190,635...26,244,672
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G |
HADHB |
hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta |
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IEP |
protein:decreased_expression:vascular smooth muscle cells:little or no expression in VSMCs in arteries with amyloid deposits |
RGD |
PMID:11430884 |
RGD:1600786 |
NCBI chr 2:26,244,939...26,290,465
Ensembl chr 2:26,243,170...26,290,465
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G |
HBA2 |
hemoglobin subunit alpha 2 |
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ISO |
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RGD |
PMID:21428213 |
RGD:10450508 |
NCBI chr16:172,876...173,710
Ensembl chr16:172,876...173,710
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G |
HDAC2 |
histone deacetylase 2 |
|
ISO |
protein:increased expression:hippocampus: |
RGD |
PMID:22388814 |
RGD:9590324 |
NCBI chr 6:113,933,028...113,971,148
Ensembl chr 6:113,933,028...114,011,308
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G |
HFE |
homeostatic iron regulator |
|
IAGP EXP |
with Tf C2 variant;DNA:missense mutation:cds:p.C282Y (human) ClinVar Annotator: match by term: Alzheimer's disease ClinVar Annotator: match by term: Alzheimer disease CTD Direct Evidence: marker/mechanism |
ClinVar CTD RGD |
PMID:8696333 PMID:8896550 PMID:9162021 PMID:9356458 PMID:9462220 PMID:10194428 PMID:10660483 PMID:11336458 PMID:11358905 PMID:11399207 PMID:11423500 PMID:11479183 PMID:11532995 PMID:11812557 PMID:11874997 PMID:11904676 PMID:12377814 PMID:12429850 PMID:12885340 PMID:14673107 PMID:15060098 PMID:15347835 PMID:15546588 PMID:16132052 PMID:16186539 PMID:17042772 PMID:17047092 PMID:17210810 PMID:17308297 PMID:17600748 PMID:18566337 PMID:19159930 PMID:19554541 PMID:19560233 PMID:19681031 PMID:20107990 PMID:20301613 PMID:20560808 PMID:21243428 PMID:21349849 PMID:21452290 PMID:23178241 PMID:23429074 PMID:24033266 PMID:24729993 PMID:25741868 PMID:26153218 PMID:26365338 PMID:26975792 PMID:27173269 PMID:28280078 PMID:28443246 PMID:28492532 PMID:28617828 PMID:29404719 PMID:30291871 PMID:31220083 PMID:31980526 PMID:15060098 More...
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RGD:1358657 |
NCBI chr 6:26,087,429...26,098,343
Ensembl chr 6:26,087,226...26,098,343
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G |
HFE-AS1 |
HFE antisense RNA 1 |
|
IAGP |
ClinVar Annotator: match by term: Alzheimer disease ClinVar Annotator: match by term: Alzheimer's disease |
ClinVar |
PMID:8696333 PMID:8896550 PMID:9162021 PMID:9356458 PMID:9462220 PMID:10194428 PMID:10660483 PMID:11336458 PMID:11358905 PMID:11399207 PMID:11423500 PMID:11479183 PMID:11532995 PMID:11812557 PMID:11874997 PMID:11904676 PMID:12377814 PMID:12429850 PMID:12885340 PMID:14673107 PMID:15347835 PMID:15546588 PMID:16132052 PMID:16186539 PMID:17042772 PMID:17210810 PMID:17308297 PMID:17600748 PMID:18566337 PMID:19159930 PMID:19554541 PMID:19560233 PMID:19681031 PMID:20107990 PMID:20301613 PMID:20560808 PMID:21243428 PMID:21349849 PMID:21452290 PMID:23178241 PMID:23429074 PMID:24033266 PMID:24729993 PMID:25741868 PMID:26153218 PMID:26365338 PMID:26975792 PMID:27173269 PMID:28280078 PMID:28443246 PMID:28492532 PMID:28617828 PMID:29404719 PMID:30291871 PMID:31220083 PMID:31980526 More...
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NCBI chr 6:26,086,290...26,091,034
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G |
HIF1A |
hypoxia inducible factor 1 subunit alpha |
|
IEP ISO |
mRNA, protein:increased expression:cerebral cortex, microvessel (human) protein:increased expression:brain, microvessel (mouse) |
RGD |
PMID:16627934 PMID:21904637 |
RGD:9068875, RGD:9068888 |
NCBI chr14:61,695,513...61,748,258
Ensembl chr14:61,695,513...61,748,259
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G |
HLA-DRB1 |
major histocompatibility complex, class II, DR beta 1 |
|
IMP |
|
RGD |
PMID:21473952 |
RGD:5147563 |
NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848
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G |
HLA-DRB5 |
major histocompatibility complex, class II, DR beta 5 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27713094 |
|
NCBI chr 6:32,517,353...32,530,287
Ensembl chr 6:32,517,353...32,530,287
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G |
HMGB1 |
high mobility group box 1 |
|
ISO |
|
RGD |
PMID:23905994 |
RGD:10402058 |
NCBI chr13:30,456,704...30,617,597
Ensembl chr13:30,456,704...30,617,597
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G |
HMGCR |
3-hydroxy-3-methylglutaryl-CoA reductase |
|
IMP |
|
RGD |
PMID:17724290 |
RGD:5508460 |
NCBI chr 5:75,336,529...75,362,116
Ensembl chr 5:75,336,329...75,364,001
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G |
HMOX1 |
heme oxygenase 1 |
|
IEP EXP |
protein:increased expression:hippocampus, temporal cortex (human) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:11144356 PMID:7778849 |
RGD:1358658 |
NCBI chr22:35,381,096...35,394,207
Ensembl chr22:35,380,361...35,394,214
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G |
HNRNPA1 |
heterogeneous nuclear ribonucleoprotein A1 |
|
IEP |
protein:decreased expression:entorhinal cortex (human) |
RGD |
PMID:22628224 |
RGD:9999191 |
NCBI chr12:54,280,726...54,287,087
Ensembl chr12:54,280,193...54,287,088
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G |
HNRNPA2B1 |
heterogeneous nuclear ribonucleoprotein A2/B1 |
|
IEP |
protein:decreased expression:entorhinal cortex (human) |
RGD |
PMID:22628224 |
RGD:9999191 |
NCBI chr 7:26,189,927...26,200,746
Ensembl chr 7:26,171,151...26,201,529
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G |
HRAS |
HRas proto-oncogene, GTPase |
|
IEP |
protein:increased expression:brain, neuron (human) |
RGD |
PMID:10661494 |
RGD:10412306 |
NCBI chr11:532,242...535,576
Ensembl chr11:532,242...537,321
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|
G |
HSD17B10 |
hydroxysteroid 17-beta dehydrogenase 10 |
treatment |
IEP ISO |
protein:increased expression:brain (human) protein:increased expression:hippocampus, neuron, mitochondria |
RGD |
PMID:9338779 PMID:11869808 PMID:21307267 |
RGD:1358426, RGD:632866, RGD:13792781 |
NCBI chr X:53,431,258...53,434,376
Ensembl chr X:53,431,258...53,434,370
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G |
HSD17B3 |
hydroxysteroid 17-beta dehydrogenase 3 |
|
IEP |
mRNA:altered expression:cerebellum, hippocampus (human) |
RGD |
PMID:18180323 |
RGD:4889108 |
NCBI chr 9:96,235,306...96,302,176
Ensembl chr 9:96,235,306...96,302,176
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|
G |
HSD3B2 |
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 |
|
IEP |
mRNA:altered expression:cerebellum, hippocampus (human) |
RGD |
PMID:18180323 |
RGD:4889108 |
NCBI chr 1:119,414,931...119,423,034
Ensembl chr 1:119,414,931...119,423,035
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G |
HSF1 |
heat shock transcription factor 1 |
|
ISO |
protein:altered localization:promoter (mouse) protein:decreased expression:cerebellum (rat) |
RGD |
PMID:24849358 PMID:23665061 |
RGD:10402385, RGD:10402771 |
NCBI chr 8:144,291,604...144,314,720
Ensembl chr 8:144,291,591...144,314,720
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G |
HSP90AA1 |
heat shock protein 90 alpha family class A member 1 |
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IEP |
protein:decreased expression:serum (human) |
RGD |
PMID:23948885 |
RGD:10413860 |
NCBI chr14:102,080,742...102,139,749
Ensembl chr14:102,080,742...102,139,699
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G |
HSPA13 |
heat shock protein family A (Hsp70) member 13 |
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IAGP |
ClinVar Annotator: match by term: Alzheimer disease |
ClinVar |
PMID:16369530 PMID:16921174 PMID:24691562 |
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NCBI chr21:14,371,115...14,383,146
Ensembl chr21:14,371,115...14,383,484
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G |
HSPA1A |
heat shock protein family A (Hsp70) member 1A |
|
IAGP |
DNA:polymorphism: :-110A>C(human) |
RGD |
PMID:15832029 |
RGD:10402403 |
NCBI chr 6:31,815,543...31,817,942
Ensembl chr 6:31,815,543...31,817,946
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|
G |
HSPA1B |
heat shock protein family A (Hsp70) member 1B |
disease_progression |
IAGP |
DNA:polymorphism: : |
RGD |
PMID:12967056 |
RGD:10402401 |
NCBI chr 6:31,827,738...31,830,254
Ensembl chr 6:31,827,738...31,830,254
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G |
HSPA9 |
heat shock protein family A (Hsp70) member 9 |
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ISO IEP |
|
RGD |
PMID:17050040 PMID:17050040 |
RGD:10402560, RGD:10402560 |
NCBI chr 5:138,553,756...138,575,401
Ensembl chr 5:138,553,756...138,575,675
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G |
HSPB1 |
heat shock protein family B (small) member 1 |
|
ISO |
mRNA,protein:increased expression:brainstem, astrocyte: |
RGD |
PMID:25772164 |
RGD:10402580 |
NCBI chr 7:76,302,673...76,304,292
Ensembl chr 7:76,302,673...76,304,295
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G |
HSPD1 |
heat shock protein family D (Hsp60) member 1 |
|
ISO IEP |
protein:increased modification:brain protein:increased expression:mitochondrion: protein:increased expression:cytosol, mitochondrion: |
RGD |
PMID:15802185 PMID:22753410 PMID:22753410 |
RGD:1624243, RGD:10402831, RGD:10402831 |
NCBI chr 2:197,486,584...197,500,274
Ensembl chr 2:197,486,584...197,516,737
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G |
HTR1A |
5-hydroxytryptamine receptor 1A |
|
IEP |
|
RGD |
PMID:20508993 |
RGD:5683632 |
NCBI chr 5:63,957,874...63,962,445
Ensembl chr 5:63,957,874...63,962,507
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G |
HTR2A |
5-hydroxytryptamine receptor 2A |
treatment |
ISO |
|
RGD |
PMID:26889223 |
RGD:401901085 |
NCBI chr13:46,831,546...46,898,082
Ensembl chr13:46,831,546...46,897,076
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G |
HTR6 |
5-hydroxytryptamine receptor 6 |
susceptibility |
IAGP |
DNA:silent mutation:cds: 267C>T (human) |
RGD |
PMID:10624811 |
RGD:1358662 |
NCBI chr 1:19,664,875...19,680,966
Ensembl chr 1:19,664,875...19,680,966
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G |
HTRA2 |
HtrA serine peptidase 2 |
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IEP |
protein:increased activity:frontal cortex (human) |
RGD |
PMID:21163861 |
RGD:5688722 |
NCBI chr 2:74,529,405...74,533,556
Ensembl chr 2:74,529,596...74,533,350
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G |
ICAM1 |
intercellular adhesion molecule 1 |
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IAGP |
DNA:missense mutation:cds:p.K469E (human) |
RGD |
PMID:12498973 |
RGD:1358664 |
NCBI chr19:10,271,120...10,286,615
Ensembl chr19:10,271,093...10,286,615
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G |
IDE |
insulin degrading enzyme |
treatment |
ISO IEP EXP |
protein:decreased expression:cerebrospinal fluid associated with Insulin Resistance CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:17192785 PMID:12634421 PMID:28157092 PMID:28164769 PMID:29948724 PMID:26963025 PMID:28447730 PMID:28553348 PMID:30224067 More...
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RGD:737718, RGD:13792829, RGD:13792824, RGD:13792800, RGD:13792798, RGD:13792793, RGD:13792792, RGD:13792790 |
NCBI chr10:92,451,684...92,574,093
Ensembl chr10:92,451,684...92,574,096
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G |
IGF1 |
insulin like growth factor 1 |
onset susceptibility treatment |
ISO IEP IAGP IDA EXP |
protein:decreased expression:hippocampus: protein:altered expression:plasma,cerebral spinal fluid: DNA:polymorphism:intron: rs972936(human) protein:increased expression:serum: CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:15750215 PMID:23740209 PMID:24301648 PMID:24301648 PMID:23089282 PMID:24054991 PMID:10399774 More...
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RGD:10045852, RGD:10045853, RGD:10045853, RGD:10045854, RGD:10045860, RGD:10402576 |
NCBI chr12:102,395,874...102,481,839
Ensembl chr12:102,395,874...102,481,744
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G |
IGF1R |
insulin like growth factor 1 receptor |
severity treatment |
ISO IEP EXP |
DNA: haploinsufficiency:: full knockout dies at birth protein:increased expression:temporal cortex: protein:increased expression: cerebral cortex: CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:15750215 PMID:20409077 PMID:19487308 PMID:16274856 PMID:16274856 PMID:18479783 PMID:18479783 PMID:23562514 More...
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RGD:5686420, RGD:10045878, RGD:10045879, RGD:10045879, RGD:10045894, RGD:10045894, RGD:12904921 |
NCBI chr15:98,648,539...98,964,530
Ensembl chr15:98,648,539...98,964,530
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G |
IGF2 |
insulin like growth factor 2 |
treatment |
ISO EXP IEP |
mRNA:decreased expression:brain CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:15750215 PMID:16627931 PMID:24685003 PMID:21040071 PMID:24887203 |
RGD:5509963, RGD:10402559, RGD:10402558, RGD:10045934 |
NCBI chr11:2,129,117...2,149,566
Ensembl chr11:2,129,112...2,158,391
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G |
IGF2R |
insulin like growth factor 2 receptor |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15750215 |
|
NCBI chr 6:159,969,082...160,111,504
Ensembl chr 6:159,969,082...160,113,507
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G |
IGFBP2 |
insulin like growth factor binding protein 2 |
|
IEP |
protein:decreased expression:temporal cortex: |
RGD |
PMID:18479783 |
RGD:10045894 |
NCBI chr 2:216,632,828...216,664,436
Ensembl chr 2:216,632,828...216,664,436
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G |
IGFBP3 |
insulin like growth factor binding protein 3 |
treatment |
IEP IDA ISO |
protein:increased expression:serum mRNA:decreased expression:hippocampus |
RGD |
PMID:23473966 PMID:10399774 PMID:24964199 |
RGD:10402570, RGD:10402576, RGD:10402572 |
NCBI chr 7:45,912,245...45,921,272
Ensembl chr 7:45,912,245...45,921,874
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G |
IKBKB |
inhibitor of nuclear factor kappa B kinase subunit beta |
treatment |
ISO |
protein:increased expression:hippocampus: |
RGD |
PMID:24380241 |
RGD:10045941 |
NCBI chr 8:42,271,302...42,332,460
Ensembl chr 8:42,271,302...42,332,460
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G |
IL10 |
interleukin 10 |
susceptibility treatment |
IAGP ISO |
DNA:SNPs,haplotype: -1082G>A, -819T>C, -592C>A (human) |
RGD |
PMID:14746878 PMID:21803105 |
RGD:1358665, RGD:7364841 |
NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541
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G |
IL1A |
interleukin 1 alpha |
susceptibility disease_progression no_association |
IAGP IEP |
protein:increased expression:microglial cell, cortical layer: DNA:SNP:5'UTR:rs1800587(human) |
RGD |
PMID:10716257 PMID:9775393 PMID:11402127 PMID:19158434 |
RGD:1358667, RGD:10046059, RGD:10045947, RGD:10045945 |
NCBI chr 2:112,773,925...112,784,493
Ensembl chr 2:112,773,925...112,784,493
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G |
IL1B |
interleukin 1 beta |
onset no_association treatment |
IEP IAGP ISO IMP EXP |
protein:increased expression:plasma DNA:SNP: :rs1143634 (human) DNA:SNP:promoter:-31T>C (human) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:18675847 PMID:16600299 PMID:20413850 PMID:18830724 PMID:18830724 PMID:23378761 PMID:26937653 PMID:24022074 PMID:24874542 PMID:29447949 PMID:22963993 More...
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RGD:1626633, RGD:13793381, RGD:13792820, RGD:13792820, RGD:13792819, RGD:11522340, RGD:13792818, RGD:13792817, RGD:13792816, RGD:7204700 |
NCBI chr 2:112,829,751...112,836,779
Ensembl chr 2:112,829,751...112,836,816
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G |
IL2 |
interleukin 2 |
severity |
IDA IEP |
protein:increased secretion:mononuclear cell: |
RGD |
PMID:8915041 PMID:8586980 |
RGD:10047080, RGD:10047081 |
NCBI chr 4:122,451,470...122,456,725
Ensembl chr 4:122,451,470...122,456,725
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G |
IL3 |
interleukin 3 |
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IEP |
protein:decreased expression:plasma |
RGD |
PMID:17934472 PMID:18769539 |
RGD:5686815, RGD:5686817 |
NCBI chr 5:132,060,655...132,063,204
Ensembl chr 5:132,060,655...132,063,204
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G |
IL33 |
interleukin 33 |
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ISS |
OMIM:608907 |
MouseDO |
|
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NCBI chr 9:6,215,149...6,257,983
Ensembl chr 9:6,215,786...6,257,983
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G |
IL4 |
interleukin 4 |
|
IAGP |
DNA:polymorphisms:promoter |
RGD |
PMID:20213229 |
RGD:10402788 |
NCBI chr 5:132,673,989...132,682,678
Ensembl chr 5:132,673,986...132,682,678
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G |
IL6 |
interleukin 6 |
treatment |
ISO |
|
RGD |
PMID:27088818 |
RGD:11062148 |
NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002
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G |
IL6R |
interleukin 6 receptor |
no_association |
IEP IAGP |
protein:increased expression:cerebrospinal fluid, plasma DNA:SNPs:promoter:-208G>A (rs4845617) (human) DNA:SNPs:promoter, exon:-530G>T, 48867A/>C (p.D358A, rs8192284) (human) |
RGD |
PMID:12664314 PMID:20197062 PMID:20197062 |
RGD:10402808, RGD:10402810, RGD:10402810 |
NCBI chr 1:154,405,343...154,469,450
Ensembl chr 1:154,405,193...154,469,450
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G |
IL6ST |
interleukin 6 cytokine family signal transducer |
|
IEP |
protein:decreased expression:cerebrospinal fluid |
RGD |
PMID:10095017 |
RGD:10402847 |
NCBI chr 5:55,935,095...55,994,963
Ensembl chr 5:55,935,095...55,995,022
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G |
IL7 |
interleukin 7 |
|
IEP |
|
RGD |
PMID:22571981 |
RGD:10402933 |
NCBI chr 8:78,675,044...78,805,463
Ensembl chr 8:78,675,743...78,805,523
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G |
INPP5D |
inositol polyphosphate-5-phosphatase D |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30320580 |
|
NCBI chr 2:233,060,342...233,207,903
Ensembl chr 2:233,059,967...233,207,903
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G |
INS |
insulin |
|
ISO EXP |
mRNA:decreased expression:cerebral cortex CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:9443474 PMID:15750215 PMID:17448147 |
RGD:2298713 |
NCBI chr11:2,159,779...2,161,209
Ensembl chr11:2,159,779...2,161,221
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G |
INS-IGF2 |
INS-IGF2 readthrough |
|
ISO |
mRNA:decreased expression:hippocampus |
RGD |
PMID:17448147 |
RGD:2298713 |
NCBI chr11:2,129,117...2,161,209
Ensembl chr11:2,132,538...2,161,209
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G |
INSR |
insulin receptor |
treatment |
ISO IEP EXP |
protein:altered localization:brain, neuron mRNA:decreased expression:brain CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:24055495 PMID:23011726 PMID:18479783 PMID:16627931 |
RGD:10403036, RGD:10045894, RGD:5509963 |
NCBI chr19:7,112,265...7,294,414
Ensembl chr19:7,112,255...7,294,414
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G |
IQCK |
IQ motif containing K |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30820047 |
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NCBI chr16:19,718,271...19,858,467
Ensembl chr16:19,716,456...19,858,467
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G |
IREB2 |
iron responsive element binding protein 2 |
|
IAGP |
DNA:SNPs: :rs2656070, rs13180(human) |
RGD |
PMID:16914832 |
RGD:6893299 |
NCBI chr15:78,437,431...78,501,453
Ensembl chr15:78,437,431...78,501,453
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G |
IRS1 |
insulin receptor substrate 1 |
treatment severity |
IEP ISO IAGP |
protein:increased expression, increased serine phosphorylation, increased tyrosine phosphorylation:hippocampus CA1 protein:decreased expression:hippocampus: DNA:SNP:cds:rs1801278(human) protein:altered expression:temporal cortex: protein:increased serine phosphorylation:hippocampus |
RGD |
PMID:22476197 PMID:23011726 PMID:22527777 PMID:23660953 PMID:24589556 PMID:18479783 PMID:22476196 More...
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RGD:6482860, RGD:10403036, RGD:10045939, RGD:10045935, RGD:10045932, RGD:10045894, RGD:6482861 |
NCBI chr 2:226,731,312...226,799,820
Ensembl chr 2:226,731,312...226,799,820
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G |
IRS2 |
insulin receptor substrate 2 |
severity |
ISO IEP |
mRNA:decreased expression:hippocampus: protein:decreased expression:temporal cortex: |
RGD |
PMID:19487308 PMID:24887203 PMID:18479783 |
RGD:10045878, RGD:10045934, RGD:10045894 |
NCBI chr13:109,752,695...109,786,583
Ensembl chr13:109,752,695...109,786,583
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G |
ITPR1 |
inositol 1,4,5-trisphosphate receptor type 1 |
|
IEP |
protein:decreased expression:temporal cortex, frontal cortex (human) |
RGD |
PMID:8819138 |
RGD:6482821 |
NCBI chr 3:4,493,348...4,847,506
Ensembl chr 3:4,493,345...4,847,506
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G |
JAK2 |
Janus kinase 2 |
treatment |
ISO |
|
RGD |
PMID:18813209 |
RGD:10403051 |
NCBI chr 9:4,984,390...5,129,948
Ensembl chr 9:4,984,390...5,129,948
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G |
JAM2 |
junctional adhesion molecule 2 |
|
IAGP |
ClinVar Annotator: match by term: Alzheimer disease |
ClinVar |
PMID:16369530 PMID:16921174 PMID:24691562 PMID:25741868 |
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NCBI chr21:25,639,258...25,717,562
Ensembl chr21:25,639,258...25,717,562
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|
G |
KCNC1 |
potassium voltage-gated channel subfamily C member 1 |
|
ISO |
mRNA, protein:decreased expression:neocortex (mouse) |
RGD |
PMID:21912965 |
RGD:9686062 |
NCBI chr11:17,734,781...17,783,057
Ensembl chr11:17,734,774...17,856,804
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|
G |
KCNC4 |
potassium voltage-gated channel subfamily C member 4 |
|
ISO IEP |
mRNA:decreased expression:neocortex (mouse) mRNA, protein:increased expression: frontal cortex |
RGD |
PMID:21912965 PMID:15485486 |
RGD:9686062, RGD:10411900 |
NCBI chr 1:110,210,314...110,284,080
Ensembl chr 1:110,210,314...110,283,100
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|
G |
KCNMA1 |
potassium calcium-activated channel subfamily M alpha 1 |
onset |
IAGP |
DNA:SNP: :rs16934131 (human) |
RGD |
PMID:21480501 |
RGD:10412025 |
NCBI chr10:76,869,602...77,637,808
Ensembl chr10:76,869,601...77,638,369
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G |
KL |
klotho |
treatment |
ISO |
mRNA,protein:decreased expression:cerebral choroid,serum: |
RGD |
PMID:23973442 |
RGD:10403049 |
NCBI chr13:33,016,243...33,066,143
Ensembl chr13:33,016,423...33,066,143
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G |
KLC1 |
kinesin light chain 1 |
susceptibility |
IAGP |
DNA:SNPs: :rs8007903, rs3212079 (human) DNA:SNP:intron:56836G>C (human) |
RGD |
PMID:19911314 PMID:15364413 |
RGD:5683908, RGD:5684007 |
NCBI chr14:103,629,211...103,701,544
Ensembl chr14:103,561,896...103,714,249
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|
G |
KLK6 |
kallikrein related peptidase 6 |
|
IAGP |
|
RGD |
PMID:12480753 PMID:12074831 |
RGD:1358604, RGD:1358599 |
NCBI chr19:50,958,631...50,969,591
Ensembl chr19:50,958,631...50,969,673
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G |
KLRG1 |
killer cell lectin like receptor G1 |
|
IAGP |
ClinVar Annotator: match by term: ALPHA-2-MACROGLOBULIN POLYMORPHISM |
ClinVar |
PMID:1370808 PMID:1717945 PMID:9697696 PMID:9811940 PMID:15023809 PMID:24033266 More...
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|
NCBI chr12:8,950,044...9,215,570
Ensembl chr12:8,950,044...9,010,760
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|
G |
L1CAM |
L1 cell adhesion molecule |
|
IEP |
protein:increased expression:cerebrospinal fluid (human) |
RGD |
PMID:16298234 |
RGD:6483456 |
NCBI chr X:153,861,514...153,886,173
Ensembl chr X:153,861,514...153,886,173
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G |
LDLR |
low density lipoprotein receptor |
no_association |
ISO IAGP |
DNA:SNPs:exon:rs5925, rs5927, rs5930 (human) DNA:SNPs:exon (human) DNA:SNPs:exon:rs5925, rs5930, rs11669576 (human) DNA:SNPs: :rs5925, rs2738444, rs11669576 (human) |
RGD |
PMID:21755005 PMID:15585340 PMID:16378661 PMID:15689450 PMID:16741934 PMID:17239995 More...
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RGD:5490231, RGD:5490244, RGD:5490243, RGD:5490242, RGD:5490241, RGD:5490239 |
NCBI chr19:11,089,463...11,133,820
Ensembl chr19:11,089,418...11,133,820
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G |
LEP |
leptin |
treatment |
ISO IEP EXP |
associated with Obesity compared to cortisol;protein:altered expression:plasma (human) CTD Direct Evidence: therapeutic |
CTD RGD |
PMID:20157255 PMID:25296496 PMID:9755363 |
RGD:10053617, RGD:10053632 |
NCBI chr 7:128,241,278...128,257,629
Ensembl chr 7:128,241,278...128,257,629
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G |
LIPC |
lipase C, hepatic type |
no_association |
IAGP |
DNA:SNPs: :rs6074, rs6083, rs6084 (human) DNA:SNPs: :rs6084 (human) |
RGD |
PMID:17175070 PMID:17175070 |
RGD:1600644, RGD:1600644 |
NCBI chr15:58,431,991...58,569,844
Ensembl chr15:58,410,569...58,569,844
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G |
LIPI |
lipase I |
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IAGP |
ClinVar Annotator: match by term: Alzheimer disease |
ClinVar |
PMID:16369530 PMID:16921174 PMID:24691562 |
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NCBI chr21:14,108,812...14,210,955
Ensembl chr21:14,108,813...14,210,955
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G |
LOC106694315 |
MPO proximal enhancer and promoter region |
|
IAGP |
ClinVar Annotator: match by term: Alzheimer disease, susceptibility to |
ClinVar |
PMID:11087769 PMID:12915675 PMID:15023809 PMID:17304047 |
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NCBI chr17:58,279,588...58,282,434
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G |
LOC126653330 |
CDK7 strongly-dependent group 2 enhancer GRCh37_chr21:27326978-27328177 |
|
IAGP |
ClinVar Annotator: match by term: Alzheimer disease |
ClinVar |
PMID:9536098 PMID:17576681 PMID:25104557 PMID:25741868 PMID:28492532 PMID:32087291 PMID:35873773 More...
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NCBI chr21:25,954,664...25,955,863
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G |
LOC126860960 |
BRD4-independent group 4 enhancer GRCh37_chr10:75672789-75673988 |
|
IAGP |
ClinVar Annotator: match by term: Alzheimer disease, late-onset, susceptibility to |
ClinVar |
PMID:12898287 PMID:15615772 PMID:15616835 PMID:16341549 PMID:28492532 |
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NCBI chr10:73,913,031...73,914,394
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G |
LOC129932678 |
ATAC-STARR-seq lymphoblastoid silent region 1893 |
|
IAGP |
ClinVar Annotator: match by term: Early-Onset Familial Alzheimer Disease |
ClinVar |
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NCBI chr 1:226,870,419...226,871,018
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G |
LPA |
lipoprotein(a) |
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IEP |
protein:alternative form:plasma:presence of low molecular weight isoform(s) increased risk |
RGD |
PMID:15211075 |
RGD:5509891 |
NCBI chr 6:160,531,482...160,664,275
Ensembl chr 6:160,531,482...160,664,275
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G |
LPL |
lipoprotein lipase |
severity no_association |
IEP IAGP |
DNA, mRNA:SNP, decreased expression: :rs285 (human) DNA:SNPs: :multiple DNA:SNPs: :rs268, rs328 (human) DNA:polymorphism:intron DNA:point mutations: :p.N291S, p.S447X (human) |
RGD |
PMID:24004859 PMID:16965549 PMID:27897113 PMID:16013913 PMID:15331147 PMID:12133567 PMID:10206232 More...
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RGD:13793392, RGD:13793393, RGD:13793395, RGD:5685661, RGD:13793396, RGD:13793397, RGD:13799353 |
NCBI chr 8:19,939,253...19,967,259
Ensembl chr 8:19,901,717...19,967,259
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G |
LRP1 |
LDL receptor related protein 1 |
treatment |
IAGP ISO ISS |
DNA:SNP:exon 3:C>T (human) OMIM:104300 | OMIM:502500 | OMIM:604154 | OMIM:608907 |
MouseDO RGD |
PMID:9635959 PMID:19150622 PMID:29115637 |
RGD:1358747, RGD:13800553, RGD:13799352 |
NCBI chr12:57,128,483...57,213,361
Ensembl chr12:57,128,483...57,213,361
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G |
LRP1B |
LDL receptor related protein 1B |
onset |
ISO |
mRNA:increased expression:hippocampus (mouse) |
RGD |
PMID:23150673 |
RGD:151665140 |
NCBI chr 2:140,231,423...142,131,016
Ensembl chr 2:140,231,423...142,131,016
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G |
LRP8 |
LDL receptor related protein 8 |
no_association |
IAGP |
DNA:polymorphism:exon:2622T>C (human) DNA:polymorphisms: :multiple |
RGD |
PMID:12399018 PMID:20208369 |
RGD:6483064, RGD:6483065 |
NCBI chr 1:53,242,364...53,328,070
Ensembl chr 1:53,242,364...53,328,469
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G |
LRPAP1 |
LDL receptor related protein associated protein 1 |
onset |
IAGP |
DNA:deletion:intron |
RGD |
PMID:11425005 |
RGD:1358749 |
NCBI chr 4:3,503,612...3,532,422
Ensembl chr 4:3,503,612...3,532,446
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G |
MAOA |
monoamine oxidase A |
|
IDA |
|
RGD |
PMID:1627256 |
RGD:10046060 |
NCBI chr X:43,655,006...43,746,817
Ensembl chr X:43,654,907...43,746,817
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G |
MAOB |
monoamine oxidase B |
|
IDA EXP |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:7816197 PMID:21075085 PMID:1627256 |
RGD:10046060 |
NCBI chr X:43,766,610...43,882,450
Ensembl chr X:43,766,610...43,882,450
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G |
MAP2 |
microtubule associated protein 2 |
|
ISO |
|
RGD |
PMID:22083255 |
RGD:6483322 |
NCBI chr 2:209,424,047...209,734,112
Ensembl chr 2:209,424,047...209,734,147
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G |
MAPK1 |
mitogen-activated protein kinase 1 |
treatment onset |
ISO IEP |
mRNA:increased expression: CA2 field of hippocampus, pyramidal neuron |
RGD |
PMID:28079060 PMID:24334724 |
RGD:13800563, RGD:13800868 |
NCBI chr22:21,759,657...21,867,680
Ensembl chr22:21,759,657...21,867,680
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G |
MAPK10 |
mitogen-activated protein kinase 10 |
|
IEP |
protein:increased expression:CA1 field of hippocampus: |
RGD |
PMID:11208906 |
RGD:10412676 |
NCBI chr 4:86,010,405...86,594,074
Ensembl chr 4:85,990,007...86,594,625
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G |
MAPK14 |
mitogen-activated protein kinase 14 |
treatment |
ISO |
mRNA:increased expression:frontal lobe cortex, hippocampus CA2 (rat) |
RGD |
PMID:20529587 PMID:17784957 |
RGD:10047076, RGD:10047104 |
NCBI chr 6:36,027,808...36,124,214
Ensembl chr 6:36,027,782...36,111,236
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G |
MAPK3 |
mitogen-activated protein kinase 3 |
treatment |
ISO |
|
RGD |
PMID:28079060 |
RGD:13800563 |
NCBI chr16:30,114,105...30,123,220
Ensembl chr16:30,114,105...30,123,506
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G |
MAPK8 |
mitogen-activated protein kinase 8 |
disease_progression |
IEP |
protein:increased expression:brain,CA1 field of hippocampus: |
RGD |
PMID:11208906 |
RGD:10412676 |
NCBI chr10:48,306,677...48,439,360
Ensembl chr10:48,306,639...48,439,360
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G |
MAPK9 |
mitogen-activated protein kinase 9 |
|
IEP |
protein:increased expression:brain,CA1 field of hippocampus: |
RGD |
PMID:11208906 |
RGD:10412676 |
NCBI chr 5:180,233,143...180,292,083
Ensembl chr 5:180,233,143...180,292,099
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G |
MAPT |
microtubule associated protein tau |
treatment onset no_association |
IMP IEP IAGP ISO EXP |
protein:increased expression:CSF (human) ClinVar Annotator: match by term: Alzheimer disease CTD Direct Evidence: marker/mechanism protein:hyperphosphorylation:brain: DNA:mutation:cds:p.R406W(human) DNA:SNP, haplotypes:promoter:rs242557 (human) DNA:SNPs, haplotypes:promoter:rs242557 (human) |
ClinVar CTD RGD |
PMID:12852432 PMID:14517953 PMID:15750215 PMID:20157255 PMID:21715663 PMID:25352456 PMID:27117003 PMID:30279455 PMID:11520987 PMID:29368621 PMID:27060945 PMID:28342971 PMID:29126976 PMID:8226987 PMID:19252918 PMID:18587238 PMID:23116876 PMID:19308965 More...
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RGD:1302530, RGD:127284889, RGD:13800908, RGD:13800904, RGD:13782165, RGD:10412709, RGD:10412704, RGD:10412701, RGD:8158105, RGD:8158097 |
NCBI chr17:45,894,554...46,028,334
Ensembl chr17:45,894,527...46,028,334
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G |
MBL2 |
mannose binding lectin 2 |
susceptibility |
IEP IAGP |
protein:decreased expression:cerebrospinal fluid (human) DNA:haplotype:promoter: |
RGD |
PMID:9631454 PMID:23348713 |
RGD:4889155, RGD:12910848 |
NCBI chr10:52,765,380...52,772,784
Ensembl chr10:52,765,380...52,772,784
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G |
MCM2 |
minichromosome maintenance complex component 2 |
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IDA ISO |
|
RGD |
PMID:19946466 PMID:17070803 |
RGD:10412048, RGD:10412050 |
NCBI chr 3:127,598,411...127,622,436
Ensembl chr 3:127,598,223...127,622,436
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G |
MDM4 |
MDM4 regulator of p53 |
disease_progression |
IEP |
|
RGD |
PMID:23861893 |
RGD:10047419 |
NCBI chr 1:204,516,406...204,558,120
Ensembl chr 1:204,516,379...204,558,120
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G |
MFN1 |
mitofusin 1 |
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IEP |
protein:decreased expression:hippocampus (human) |
RGD |
PMID:19605646 |
RGD:7800727 |
NCBI chr 3:179,347,709...179,394,936
Ensembl chr 3:179,347,709...179,394,936
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G |
MFN2 |
mitofusin 2 |
|
IEP ISO |
protein:decreased expression:hippocampus (human) protein:increased expression:hippocampus (rat) |
RGD |
PMID:19605646 PMID:28302704 |
RGD:7800727, RGD:12910737 |
NCBI chr 1:11,980,444...12,013,508
Ensembl chr 1:11,980,181...12,015,211
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G |
MIR100 |
microRNA 100 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25992776 |
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NCBI chr11:122,152,229...122,152,308
Ensembl chr11:122,152,229...122,152,308
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G |
MIR124-3 |
microRNA 124-3 |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:28867212 |
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NCBI chr20:63,178,500...63,178,586
Ensembl chr20:63,178,500...63,178,586
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G |
MIR125B2 |
microRNA 125b-2 |
|
IAGP |
ClinVar Annotator: match by term: Alzheimer disease |
ClinVar |
PMID:16369530 PMID:16921174 PMID:24691562 |
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NCBI chr21:16,590,237...16,590,325
Ensembl chr21:16,590,237...16,590,325
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G |
MIR132 |
microRNA 132 |
|
IEP |
RNA:decreased expression:brain |
RGD |
PMID:23585551 |
RGD:7327146 |
NCBI chr17:2,049,908...2,050,008
Ensembl chr17:2,049,908...2,050,008
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G |
MIR146A |
microRNA 146a |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22099153 PMID:25992776 |
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NCBI chr 5:160,485,352...160,485,450
Ensembl chr 5:160,485,352...160,485,450
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G |
MIR155 |
microRNA 155 |
|
IAGP |
ClinVar Annotator: match by term: Alzheimer disease |
ClinVar |
PMID:16369530 PMID:16921174 PMID:24691562 PMID:25741868 |
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NCBI chr21:25,573,980...25,574,044
Ensembl chr21:25,573,980...25,574,044
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G |
MIR212 |
microRNA 212 |
|
IEP |
RNA:decreased expression:brain |
RGD |
PMID:23585551 |
RGD:7327146 |
NCBI chr17:2,050,271...2,050,380
Ensembl chr17:2,050,271...2,050,380
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G |
MIR296 |
microRNA 296 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25992776 |
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NCBI chr20:58,817,615...58,817,694
Ensembl chr20:58,817,615...58,817,694
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G |
MIR3622B |
microRNA 3622b |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25992776 |
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NCBI chr 8:27,701,673...27,701,767
Ensembl chr 8:27,701,673...27,701,767
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G |
MIR375 |
microRNA 375 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25992776 |
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NCBI chr 2:219,001,645...219,001,708
Ensembl chr 2:219,001,645...219,001,708
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G |
MIR4467 |
microRNA 4467 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25992776 |
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NCBI chr 7:102,471,469...102,471,531
Ensembl chr 7:102,471,469...102,471,531
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G |
MIR505 |
microRNA 505 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25992776 |
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NCBI chr X:139,924,148...139,924,231
Ensembl chr X:139,924,148...139,924,231
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G |
MIR708 |
microRNA 708 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25992776 |
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NCBI chr11:79,402,022...79,402,109
Ensembl chr11:79,402,022...79,402,109
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G |
MIR766 |
microRNA 766 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25992776 |
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NCBI chr X:119,646,738...119,646,848
Ensembl chr X:119,646,738...119,646,848
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G |
MIR99A |
microRNA 99a |
|
IAGP |
ClinVar Annotator: match by term: Alzheimer disease |
ClinVar |
PMID:16369530 PMID:16921174 PMID:24691562 |
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NCBI chr21:16,539,089...16,539,169
Ensembl chr21:16,539,089...16,539,169
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G |
MIRLET7C |
microRNA let-7c |
|
IAGP |
ClinVar Annotator: match by term: Alzheimer disease |
ClinVar |
PMID:16369530 PMID:16921174 PMID:24691562 |
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NCBI chr21:16,539,828...16,539,911
Ensembl chr21:16,539,828...16,539,911
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G |
MME |
membrane metalloendopeptidase |
treatment no_association severity onset |
ISS ISO IMP IAGP IDA |
OMIM:104300 | OMIM:502500 | OMIM:604154 | OMIM:608907 associated with Endotoxemia DNA:SNPs, repeat:multiple:multiple DNA:SNPs:introns:rs1836915, rs6776185, rs6801319 (human) DNA:SNPs, haplotypes:promoter, introns:-204G>C, IVS17-294C>T, IVS22+36C>A (human) DNA:SNPs, repeats, deletion:promoter:multiple DNA:repeats DNA:SNPs:5' utr, 3' utr:rs3736187, rs989692, rs701109 (human) DNA:SNPs: :multiple DNA:SNP: :rs6797911 (human) DNA:SNP:3' utr:rs6665 (human) |
MouseDO RGD |
PMID:25416980 PMID:25884928 PMID:20141738 PMID:17928142 PMID:17928142 PMID:12074840 PMID:15860464 PMID:12527400 PMID:11849775 PMID:19606063 PMID:21537452 PMID:22493749 PMID:22493749 PMID:25991605 PMID:28294061 More...
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RGD:13801033, RGD:13801034, RGD:13801024, RGD:13801023, RGD:13801023, RGD:13801022, RGD:13801021, RGD:13801020, RGD:1600813, RGD:13801019, RGD:13801012, RGD:13801011, RGD:13801011, RGD:13801010, RGD:13801009 |
NCBI chr 3:155,024,202...155,183,729
Ensembl chr 3:155,024,124...155,183,704
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G |
MMP2 |
matrix metallopeptidase 2 |
|
IEP |
protein:decreased expression:platelet |
RGD |
PMID:21875409 |
RGD:10059680 |
NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691
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G |
MMP9 |
matrix metallopeptidase 9 |
|
IEP |
protein:increased expression:plasma (human) |
RGD |
PMID:17697439 |
RGD:7207052 |
NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561
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G |
MPO |
myeloperoxidase |
|
EXP IAGP |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Alzheimer disease, susceptibility to |
CTD ClinVar |
PMID:11087769 PMID:12915675 PMID:15023809 PMID:17304047 PMID:25741868 |
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NCBI chr17:58,269,855...58,280,935
Ensembl chr17:58,269,855...58,280,935
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G |
MRE11 |
MRE11 homolog, double strand break repair nuclease |
|
IEP |
protein:decreased expression:cerebral cortex (human) |
RGD |
PMID:15337312 |
RGD:2317734 |
NCBI chr11:94,415,570...94,512,412
Ensembl chr11:94,415,570...94,493,885
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G |
MRPL39 |
mitochondrial ribosomal protein L39 |
|
IAGP |
ClinVar Annotator: match by term: Alzheimer disease |
ClinVar |
PMID:16369530 PMID:16921174 PMID:24691562 PMID:25741868 |
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NCBI chr21:25,585,656...25,607,859
Ensembl chr21:25,585,656...25,607,517
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G |
MS4A4A |
membrane spanning 4-domains A4A |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21460841 |
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NCBI chr11:60,280,666...60,308,970
Ensembl chr11:60,185,657...60,318,080
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G |
MT-ND1 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 |
|
IEP IAGP |
mRNA:decreased expression:frontal cortex, Brodmann area 9 (human) ClinVar Annotator: match by term: Alzheimer disease |
ClinVar RGD |
PMID:8104867 PMID:15972314 PMID:15075441 |
RGD:5490287 |
NCBI chr MT:3,307...4,262
Ensembl chr MT:3,307...4,262
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G |
MT-ND2 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 |
no_association |
IAGP |
DNA:mutation::m.5460G>A |
RGD |
PMID:1370613 PMID:1352971 |
RGD:5507834, RGD:5507833 |
NCBI chr MT:4,470...5,511
Ensembl chr MT:4,470...5,511
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G |
MT-ND4 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 |
|
IEP |
mRNA:decreased expression:brain |
RGD |
PMID:10447460 |
RGD:5508713 |
NCBI chr MT:10,760...12,137
Ensembl chr MT:10,760...12,137
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G |
MT1X |
metallothionein 1X |
|
ISO |
|
RGD |
PMID:22766972 |
RGD:10412319 |
NCBI chr16:56,682,470...56,684,196
Ensembl chr16:56,682,470...56,684,196
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G |
MT2A |
metallothionein 2A |
|
ISO |
mRNA:decreased expression:cerebral cortex (rat) |
RGD |
PMID:22766972 PMID:16914836 |
RGD:10412319, RGD:10412320 |
NCBI chr16:56,608,584...56,609,497
Ensembl chr16:56,608,584...56,609,497
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G |
MT3 |
metallothionein 3 |
|
IEP IDA ISO |
mRNA:decreased expression:brain mRNA:increased expression:brain |
RGD |
PMID:1464312 PMID:19619132 PMID:16444595 PMID:10595827 |
RGD:6480485, RGD:6480534, RGD:6480619, RGD:9685805 |
NCBI chr16:56,589,528...56,591,085
Ensembl chr16:56,589,074...56,591,088
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G |
MTHFR |
methylenetetrahydrofolate reductase |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17192785 |
|
NCBI chr 1:11,785,723...11,805,964
Ensembl chr 1:11,785,723...11,806,455
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G |
NAE1 |
NEDD8 activating enzyme E1 subunit 1 |
|
IEP |
|
RGD |
PMID:14557245 |
RGD:2302388 |
NCBI chr16:66,802,878...66,830,976
Ensembl chr16:66,802,875...66,873,256
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G |
NAPB |
NSF attachment protein beta |
|
IEP |
protein:decreased expression:temporal cortex |
RGD |
PMID:11244216 |
RGD:10412652 |
NCBI chr20:23,374,522...23,421,488
Ensembl chr20:23,374,519...23,421,519
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G |
NBN |
nibrin |
|
IEP |
|
RGD |
PMID:15337312 |
RGD:2317734 |
NCBI chr 8:89,933,331...89,984,667
Ensembl chr 8:89,924,515...90,003,228
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G |
NCAM1 |
neural cell adhesion molecule 1 |
|
ISO |
|
RGD |
PMID:31028587 |
RGD:40925918 |
NCBI chr11:112,961,420...113,278,436
Ensembl chr11:112,961,275...113,278,436
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G |
NCAM2 |
neural cell adhesion molecule 2 |
|
IAGP |
ClinVar Annotator: match by term: Alzheimer disease |
ClinVar |
PMID:16369530 PMID:16921174 PMID:24691562 |
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NCBI chr21:20,998,409...21,543,329
Ensembl chr21:20,998,409...21,543,329
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G |
NCF2 |
neutrophil cytosolic factor 2 |
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IDA |
protein:altered localization |
RGD |
PMID:10873554 |
RGD:2314452 |
NCBI chr 1:183,555,562...183,601,849
Ensembl chr 1:183,554,461...183,590,905
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G |
NCK2 |
NCK adaptor protein 2 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:33589840 |
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NCBI chr 2:105,744,453...105,894,272
Ensembl chr 2:105,744,912...105,894,274
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G |
NCSTN |
nicastrin |
no_association onset |
EXP IAGP IMP IDA |
CTD Direct Evidence: marker/mechanism DNA:missense mutation, SNPs:exon, intron, 3' utr:multiple DNA:missense mutation: :417N>Y (human) DNA:SNPs, haplotype:introns:multiple protein:increased modification:brain DNA:SNP:promoter:-436C>T (human) DNA:SNPs:promoter:-796T>G, -1216C>A (human) DNA:SNP:promoter:-922G>T (rs10752637) (human) |
CTD RGD |
PMID:17192785 PMID:14642438 PMID:23595812 PMID:11992262 PMID:11992262 PMID:22404891 PMID:19394408 PMID:19394408 PMID:15157994 PMID:19840113 More...
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RGD:13801188, RGD:13801187, RGD:13801052, RGD:13801052, RGD:13801051, RGD:13801050, RGD:13801050, RGD:13801049, RGD:13801048 |
NCBI chr 1:160,343,383...160,358,949
Ensembl chr 1:160,343,294...160,358,952
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G |
NDUFA2 |
NADH:ubiquinone oxidoreductase subunit A2 |
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IEP |
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RGD |
PMID:28474567 |
RGD:13792588 |
NCBI chr 5:140,645,285...140,647,630
Ensembl chr 5:140,638,740...140,647,771
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G |
NDUFA5 |
NADH:ubiquinone oxidoreductase subunit A5 |
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IEP |
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RGD |
PMID:19760337 |
RGD:13801191 |
NCBI chr 7:123,536,997...123,601,651
Ensembl chr 7:123,536,997...123,557,904
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G |
NDUFA6 |
NADH:ubiquinone oxidoreductase subunit A6 |
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IEP |
mRNA:increased expression:blood |
RGD |
PMID:26943237 |
RGD:11572212 |
NCBI chr22:42,085,526...42,090,772
Ensembl chr22:42,085,526...42,090,884
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G |
NDUFB3 |
NADH:ubiquinone oxidoreductase subunit B3 |
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IEP |
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RGD |
PMID:28474567 |
RGD:13792588 |
NCBI chr 2:201,072,001...201,085,750
Ensembl chr 2:201,071,433...201,085,750
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G |
NDUFB8 |
NADH:ubiquinone oxidoreductase subunit B8 |
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IEP |
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RGD |
PMID:14570706 |
RGD:1358651 |
NCBI chr10:100,523,729...100,529,923
Ensembl chr10:100,523,740...100,530,000
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G |
NDUFS3 |
NADH:ubiquinone oxidoreductase core subunit S3 |
onset |
IEP |
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RGD |
PMID:28242297 |
RGD:13824970 |
NCBI chr11:47,579,074...47,584,562
Ensembl chr11:47,565,336...47,584,562
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G |
NECTIN2 |
nectin cell adhesion molecule 2 |
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IAGP EXP |
DNA:SNP: :rs6859 (human) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:29107063 PMID:30319691 PMID:30320580 PMID:22159054 |
RGD:6484658 |
NCBI chr19:44,846,297...44,889,223
Ensembl chr19:44,846,175...44,889,223
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G |
NEFL |
neurofilament light chain |
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IEP |
protein:increased expression:CSF (human) |
RGD |
PMID:29368621 PMID:29391125 |
RGD:127284889, RGD:127285384 |
NCBI chr 8:24,950,955...24,956,612
Ensembl chr 8:24,950,955...24,956,721
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G |
NEFM |
neurofilament medium chain |
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IDA |
protein:decreased glycosylation:cerebral cortex |
RGD |
PMID:17687114 |
RGD:9743945 |
NCBI chr 8:24,913,761...24,919,093
Ensembl chr 8:24,913,758...24,919,098
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G |
NFE2L2 |
NFE2 like bZIP transcription factor 2 |
onset treatment |
IAGP IMP ISO |
DNA:snps, haplotype:5' utr, intron:multiple (human) protein:increased expression:brain, nucleus |
RGD |
PMID:20064547 PMID:19805328 PMID:22913737 PMID:23771816 |
RGD:6893326, RGD:10412689, RGD:10412685, RGD:10412683 |
NCBI chr 2:177,230,303...177,264,727
Ensembl chr 2:177,218,667...177,392,756
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G |
NGB |
neuroglobin |
treatment |
ISO |
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RGD |
PMID:23428737 |
RGD:9743955 |
NCBI chr14:77,265,483...77,271,206
Ensembl chr14:77,265,483...77,271,206
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G |
NGF |
nerve growth factor |
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ISO |
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RGD |
PMID:21368378 |
RGD:5144128 |
NCBI chr 1:115,285,917...115,338,249
Ensembl chr 1:115,285,904...115,338,770
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G |
NGFR |
nerve growth factor receptor |
no_association treatment |
ISO IAGP IEP |
protein:altered localization:brain DNA:SNP:CDS:rs2072446 DNA:SNPs, haplotypes: :multiple protein:decreased expression:basal nucleus of telencephalon, neuron protein:altered expression:urine |
RGD |
PMID:19334058 PMID:18780967 PMID:22236693 PMID:10683291 PMID:8215963 PMID:19070649 PMID:23545424 PMID:2557638 More...
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RGD:5508225, RGD:5508228, RGD:10413891, RGD:10413892, RGD:10413893, RGD:10413894, RGD:10413895, RGD:10414073 |
NCBI chr17:49,495,293...49,515,008
Ensembl chr17:49,495,293...49,515,008
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G |
NOG |
noggin |
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ISO |
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RGD |
PMID:19463786 |
RGD:10414082 |
NCBI chr17:56,593,699...56,595,611
Ensembl chr17:56,593,699...56,595,611
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G |
NOS1 |
nitric oxide synthase 1 |
susceptibility no_association |
IAGP IEP |
DNA:repeat:promoter DNA:SNP:exon:-84G>A (human) DNA:repeat:exon |
RGD |
PMID:21098972 PMID:17418914 PMID:17418914 PMID:10964481 PMID:12384247 |
RGD:13824974, RGD:13824975, RGD:13824975, RGD:13824976, RGD:13824978 |
NCBI chr12:117,208,142...117,361,626
Ensembl chr12:117,208,142...117,452,170
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G |
NOS2 |
nitric oxide synthase 2 |
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ISO IEP |
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RGD |
PMID:21163295 PMID:16908860 PMID:12384247 |
RGD:4891161, RGD:5508721, RGD:13824978 |
NCBI chr17:27,756,766...27,800,529
Ensembl chr17:27,756,766...27,800,529
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G |
NOS3 |
nitric oxide synthase 3 |
onset |
IMP IAGP IEP EXP |
human gene in rat model ClinVar Annotator: match by term: Alzheimer disease, late-onset, susceptibility to CTD Direct Evidence: marker/mechanism DNA:snp:cds:p.E298D (human) |
ClinVar CTD RGD |
PMID:9737779 PMID:9894802 PMID:10475066 PMID:10510054 PMID:10514107 PMID:11026457 PMID:11354626 PMID:11394896 PMID:11745998 PMID:15007011 PMID:16059745 PMID:16813604 PMID:17165044 PMID:24033266 PMID:25741868 PMID:17413318 PMID:12384247 PMID:10514107 More...
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RGD:2292144, RGD:13824978, RGD:1358752 |
NCBI chr 7:150,991,017...151,014,588
Ensembl chr 7:150,991,017...151,014,588
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G |
NPY |
neuropeptide Y |
treatment |
ISO IEP EXP |
protein:decreased expression:plasma CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:11709213 PMID:22266216 PMID:8592643 |
RGD:10431479, RGD:10432246 |
NCBI chr 7:24,284,190...24,291,862
Ensembl chr 7:24,284,188...24,291,862
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G |
NRG1 |
neuregulin 1 |
disease_progression |
IEP ISO |
protein:decreased expression:hippocampus |
RGD |
PMID:12528817 PMID:29914798 PMID:27558862 PMID:29295823 |
RGD:10449002, RGD:13703135, RGD:405650194, RGD:41404730 |
NCBI chr 8:31,639,245...32,774,046
Ensembl chr 8:31,639,222...32,855,666
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G |
NRGN |
neurogranin |
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IEP |
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RGD |
PMID:9329454 |
RGD:9835394 |
NCBI chr11:124,739,942...124,747,210
Ensembl chr11:124,739,942...124,747,210
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G |
NRIP1 |
nuclear receptor interacting protein 1 |
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IAGP |
ClinVar Annotator: match by term: Alzheimer disease |
ClinVar |
PMID:16369530 PMID:16921174 PMID:24691562 |
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NCBI chr21:14,961,235...15,065,936
Ensembl chr21:14,961,235...15,065,936
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G |
NRP1 |
neuropilin 1 |
severity |
ISO IEP |
mRNA,protein:increased expression:brain |
RGD |
PMID:34745215 PMID:34745215 |
RGD:401901163, RGD:401901163 |
NCBI chr10:33,177,493...33,334,667
Ensembl chr10:33,177,492...33,336,262
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G |
NTF3 |
neurotrophin 3 |
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IAGP |
DNA:missense mutation:cds:p.G63E (human) |
RGD |
PMID:9502217 |
RGD:1358754 |
NCBI chr12:5,430,332...5,495,299
Ensembl chr12:5,432,108...5,521,536
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G |
NTN1 |
netrin 1 |
treatment |
ISO |
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RGD |
PMID:30066400 |
RGD:13782183 |
NCBI chr17:9,003,087...9,244,000
Ensembl chr17:9,021,510...9,244,000
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G |
NTRK1 |
neurotrophic receptor tyrosine kinase 1 |
disease_progression |
IAGP IEP |
early onset sporadic AD; DNA:SNP:CDS:rs6336 mRNA:decreased expression:brain |
RGD |
PMID:18780967 PMID:21397006 |
RGD:5508228, RGD:5684531 |
NCBI chr 1:156,815,750...156,881,850
Ensembl chr 1:156,815,636...156,881,850
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G |
NTRK2 |
neurotrophic receptor tyrosine kinase 2 |
treatment |
IAGP ISO |
sporadic AD; DNA:SNP:intron:rs2289656 |
RGD |
PMID:18780967 PMID:24877042 PMID:21900882 |
RGD:5508228, RGD:10059402, RGD:5684548 |
NCBI chr 9:84,668,522...85,027,054
Ensembl chr 9:84,668,375...85,095,751
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G |
NUDT1 |
nudix hydrolase 1 |
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IEP |
protein:decreased expression:hippocampus |
RGD |
PMID:21538080 |
RGD:10449033 |
NCBI chr 7:2,242,226...2,251,145
Ensembl chr 7:2,242,226...2,251,146
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G |
OPA1 |
OPA1 mitochondrial dynamin like GTPase |
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IEP |
protein:decreased expression:brain |
RGD |
PMID:19605646 |
RGD:7800727 |
NCBI chr 3:193,593,208...193,697,811
Ensembl chr 3:193,593,144...193,697,811
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G |
PAK1 |
p21 (RAC1) activated kinase 1 |
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IEP |
protein:altered localization |
RGD |
PMID:18347024 |
RGD:2299169 |
NCBI chr11:77,322,017...77,530,009
Ensembl chr11:77,322,017...77,474,635
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G |
PARP1 |
poly(ADP-ribose) polymerase 1 |
susceptibility |
ISO IAGP |
protein:increased activity:brain: DNA:haplotypes:cds:rs1136410,rs1805404 (human) DNA:haplotypes: : |
RGD |
PMID:22051244 PMID:21616968 PMID:20486200 PMID:17290104 |
RGD:5510011, RGD:10413888, RGD:10413887, RGD:10413885 |
NCBI chr 1:226,360,691...226,408,093
Ensembl chr 1:226,360,210...226,408,154
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G |
PAWR |
pro-apoptotic WT1 regulator |
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IEP |
mRNA,protein:increased expression:brain: |
RGD |
PMID:9701251 |
RGD:9835364 |
NCBI chr12:79,584,879...79,690,964
Ensembl chr12:79,574,979...79,690,964
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G |
PCDH11X |
protocadherin 11 X-linked |
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EXP IAGP |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Alzheimer disease |
CTD ClinVar |
PMID:19136949 PMID:29476165 |
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NCBI chr X:91,779,375...92,623,230
Ensembl chr X:91,779,261...92,623,230
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G |
PCK1 |
phosphoenolpyruvate carboxykinase 1 |
disease_progression |
IAGP |
DNA:SNPs DNA:SNP: :rs8192708(human) |
RGD |
PMID:17440948 PMID:20574532 |
RGD:2311642, RGD:10427727 |
NCBI chr20:57,561,110...57,568,121
Ensembl chr20:57,561,080...57,568,121
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G |
PCMT1 |
protein-L-isoaspartate (D-aspartate) O-methyltransferase |
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IEP |
mRNA:increased expression:cerebral cortex: |
RGD |
PMID:8736634 |
RGD:10448277 |
NCBI chr 6:149,749,695...149,811,421
Ensembl chr 6:149,749,444...149,811,420
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G |
PCSK1N |
proprotein convertase subtilisin/kexin type 1 inhibitor |
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IEP |
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RGD |
PMID:14746899 |
RGD:1642360 |
NCBI chr X:48,831,096...48,835,610
Ensembl chr X:48,831,096...48,835,610
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G |
PDE2A |
phosphodiesterase 2A |
treatment |
ISO |
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RGD |
PMID:22771768 |
RGD:10449025 |
NCBI chr11:72,576,141...72,674,422
Ensembl chr11:72,576,141...72,674,591
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G |
PDGFB |
platelet derived growth factor subunit B |
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IEP |
protein:increased expression:plasma: |
RGD |
PMID:22279551 |
RGD:10449445 |
NCBI chr22:39,223,359...39,244,982
Ensembl chr22:39,223,359...39,244,982
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G |
PEBP1 |
phosphatidylethanolamine binding protein 1 |
onset |
ISO IEP |
mRNA:decreased expression:hippocampus |
RGD |
PMID:15941609 PMID:10210891 PMID:11853019 PMID:7770119 |
RGD:2302869, RGD:2302864, RGD:2302863, RGD:2302735 |
NCBI chr12:118,136,124...118,145,584
Ensembl chr12:118,136,124...118,145,584
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G |
PGRMC1 |
progesterone receptor membrane component 1 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25390692 |
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NCBI chr X:119,236,285...119,244,466
Ensembl chr X:119,236,245...119,244,466
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G |
PHACTR2 |
phosphatase and actin regulator 2 |
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IEP |
mRNA: splice variants |
RGD |
PMID:20590401 |
RGD:6483097 |
NCBI chr 6:143,536,878...143,831,185
Ensembl chr 6:143,536,845...143,831,185
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G |
PICALM |
phosphatidylinositol binding clathrin assembly protein |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19734902 PMID:21460841 |
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NCBI chr11:85,957,175...86,069,860
Ensembl chr11:85,957,175...86,069,882
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G |
PIK3CG |
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma |
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ISO |
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RGD |
PMID:20025958 |
RGD:6482689 |
NCBI chr 7:106,865,282...106,908,980
Ensembl chr 7:106,865,278...106,908,980
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G |
PIK3R1 |
phosphoinositide-3-kinase regulatory subunit 1 |
onset |
IAGP |
DNA:polymorphism: :p.M326I (human) |
RGD |
PMID:12185156 |
RGD:1625215 |
NCBI chr 5:68,215,756...68,301,821
Ensembl chr 5:68,215,740...68,301,821
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G |
PILRA |
paired immunoglobin like type 2 receptor alpha |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:33589840 |
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NCBI chr 7:100,371,291...100,400,096
Ensembl chr 7:100,367,530...100,400,096
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G |
PIN1 |
peptidylprolyl cis/trans isomerase, NIMA-interacting 1 |
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ISS |
OMIM:104300 | OMIM:502500 | OMIM:604154 | OMIM:608907 |
MouseDO |
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NCBI chr19:9,835,318...9,849,689
Ensembl chr19:9,835,257...9,849,689
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G |
PLAU |
plasminogen activator, urokinase |
no_association |
ISO ISS IAGP EXP IEP |
ClinVar Annotator: match by term: Alzheimer disease, late-onset, susceptibility to CTD Direct Evidence: marker/mechanism DNA:SNPs: :multiple mRNA:increased expression:brain |
MouseDO ClinVar CTD RGD |
PMID:12898287 PMID:15615772 PMID:15616835 PMID:16341549 PMID:28492532 PMID:21860091 PMID:18076107 PMID:19889475 PMID:21790972 More...
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RGD:6483793, RGD:6484115, RGD:6483807, RGD:6483794 |
NCBI chr10:73,909,164...73,917,494
Ensembl chr10:73,909,177...73,917,496
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G |
PLCB1 |
phospholipase C beta 1 |
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ISS IEP |
OMIM:104300 | OMIM:502500 | OMIM:604154 | OMIM:608907 |
MouseDO RGD |
PMID:8534418 |
RGD:13825140 |
NCBI chr20:8,132,266...8,884,900
Ensembl chr20:8,077,251...8,968,360
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G |
PLCD1 |
phospholipase C delta 1 |
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IEP IAGP |
ClinVar Annotator: match by term: Alzheimer disease, early onset |
ClinVar RGD |
PMID:25741868 PMID:8534418 |
RGD:13825140 |
NCBI chr 3:38,007,496...38,029,642
Ensembl chr 3:38,007,496...38,029,642
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G |
PLCG1 |
phospholipase C gamma 1 |
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IEP |
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RGD |
PMID:8534418 |
RGD:13825140 |
NCBI chr20:41,137,543...41,177,626
Ensembl chr20:41,136,960...41,196,801
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G |
PLCG2 |
phospholipase C gamma 2 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28714976 |
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NCBI chr16:81,739,041...81,962,685
Ensembl chr16:81,779,279...81,962,685
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G |
PNMT |
phenylethanolamine N-methyltransferase |
onset |
IAGP |
DNA:snps:5' utr:g.-390G>A, g.-184G>A rs876493 (human) |
RGD |
PMID:11378842 |
RGD:5130171 |
NCBI chr17:39,668,019...39,670,475
Ensembl chr17:39,667,981...39,670,475
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G |
PON1 |
paraoxonase 1 |
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IAGP |
DNA:polymorphisms:multiple SNPs |
RGD |
PMID:16319130 |
RGD:5509926 |
NCBI chr 7:95,297,676...95,324,532
Ensembl chr 7:95,297,676...95,324,532
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G |
PON2 |
paraoxonase 2 |
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IAGP |
DNA:missense mutation:cds:p.C311S (human) DNA:SNPs:multiple |
RGD |
PMID:11803456 PMID:16319130 |
RGD:1580219, RGD:5509926 |
NCBI chr 7:95,404,862...95,435,028
Ensembl chr 7:95,404,862...95,435,329
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G |
PON3 |
paraoxonase 3 |
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IAGP |
DNA:polymorphisms:multiple SNPs |
RGD |
PMID:16319130 |
RGD:5509926 |
NCBI chr 7:95,359,872...95,396,375
Ensembl chr 7:95,359,872...95,396,375
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G |
POTED |
POTE ankyrin domain family member D |
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IAGP |
ClinVar Annotator: match by term: Alzheimer disease |
ClinVar |
PMID:16369530 PMID:16921174 PMID:24691562 |
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NCBI chr21:13,609,777...13,645,823
Ensembl chr21:13,609,777...13,645,823
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G |
PPARA |
peroxisome proliferator activated receptor alpha |
no_association |
IAGP |
DNA:SNP:CDS:rs1800206, p.L162V No association found for any polymorphisms of PPARA, including rs1800206 |
RGD |
PMID:12938026 PMID:17850927 |
RGD:5561899, RGD:5561928 |
NCBI chr22:46,150,526...46,243,756
Ensembl chr22:46,150,521...46,243,755
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G |
PPARG |
peroxisome proliferator activated receptor gamma |
no_association susceptibility |
IAGP EXP |
DNA:SNPs: :multiple (human) DNA:SNP:cds:p.P12A(human) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:15993441 PMID:16407166 PMID:30328325 PMID:18573313 PMID:17440948 |
RGD:2301852, RGD:2311642 |
NCBI chr 3:12,287,368...12,434,344
Ensembl chr 3:12,287,368...12,434,356
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G |
PPARGC1A |
PPARG coactivator 1 alpha |
disease_progression |
ISO IEP |
mRNA, protein:decreased expression:hippocampal formation (human) |
RGD |
PMID:22540007 PMID:22510382 PMID:19273754 |
RGD:6484260, RGD:7242180, RGD:7242017 |
NCBI chr 4:23,792,021...24,472,905
Ensembl chr 4:23,755,041...23,904,089
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G |
PPP1R9B |
protein phosphatase 1 regulatory subunit 9B |
severity |
ISO IEP |
protein:decreased expression:cerebral cortex (mouse) protein:decreased expression:brain, synaptosome (human) |
RGD |
PMID:23764848 PMID:23764848 |
RGD:10043802, RGD:10043802 |
NCBI chr17:50,133,737...50,150,677
Ensembl chr17:50,133,737...50,150,677
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G |
PPP2R2B |
protein phosphatase 2 regulatory subunit Bbeta |
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IAGP |
DNA:repeat |
RGD |
PMID:21029765 |
RGD:5686295 |
NCBI chr 5:146,580,742...147,081,520
Ensembl chr 5:146,580,742...147,084,784
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G |
PPP3R1 |
protein phosphatase 3 regulatory subunit B, alpha |
disease_progression |
IAGP ISO |
DNA:SNP: :rs1868402 (human) |
RGD |
PMID:23727081 PMID:21223993 |
RGD:13830878, RGD:13830879 |
NCBI chr 2:68,178,857...68,252,532
Ensembl chr 2:68,178,857...68,256,237
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G |
PRKCB |
protein kinase C beta |
|
IEP |
|
RGD |
PMID:8534418 |
RGD:13825140 |
NCBI chr16:23,835,983...24,220,611
Ensembl chr16:23,835,983...24,220,611
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G |
PRKN |
parkin RBR E3 ubiquitin protein ligase |
treatment |
ISO IEP |
protein:increased expression:vessel,astrocyte: |
RGD |
PMID:24105468 PMID:19716418 |
RGD:10412735, RGD:10412736 |
NCBI chr 6:161,347,417...162,727,766
Ensembl chr 6:161,347,417...162,727,775
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G |
PRNP |
prion protein (Kanno blood group) |
|
EXP IAGP |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Alzheimer disease, early-onset, susceptibility to |
CTD ClinVar |
PMID:1353341 PMID:1677164 PMID:1682813 PMID:1684089 PMID:1971924 PMID:2378641 PMID:2783132 PMID:7908444 PMID:8137139 PMID:9643750 PMID:9748018 PMID:9751723 PMID:9789072 PMID:10437852 PMID:10581230 PMID:10953203 PMID:11488277 PMID:11506406 PMID:11506411 PMID:11749972 PMID:11840201 PMID:12601712 PMID:12867116 PMID:12891686 PMID:14520676 PMID:14562104 PMID:14970845 PMID:15277640 PMID:15539564 PMID:15987701 PMID:16217673 PMID:16315279 PMID:16391566 PMID:16565881 PMID:16969862 PMID:17192785 PMID:18955686 PMID:19923577 PMID:25741868 PMID:28492532 More...
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NCBI chr20:4,686,456...4,701,588
Ensembl chr20:4,686,350...4,701,590
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G |
PSEN1 |
presenilin 1 |
|
IAGP ISS EXP IMP |
DNA:missense mutations:cds:multiple (human) ClinVar Annotator: match by term: Early-Onset Familial Alzheimer Disease ClinVar Annotator: match by term: Alzheimer disease ClinVar Annotator: match by term: Familial Alzheimer disease CTD Direct Evidence: marker/mechanism |
ClinVar MouseDO CTD RGD |
PMID:7596406 PMID:8773614 PMID:9384602 PMID:9452052 PMID:9851443 PMID:9851450 PMID:9915968 PMID:10075646 PMID:10208579 PMID:10643802 PMID:11198283 PMID:11389157 PMID:11524469 PMID:12192622 PMID:12615638 PMID:15003276 PMID:15622541 PMID:16033913 PMID:16216949 PMID:16267640 PMID:16449385 PMID:16651627 PMID:16669732 PMID:16923167 PMID:16952411 PMID:17192785 PMID:17573346 PMID:17854491 PMID:17962197 PMID:18227305 PMID:18350357 PMID:18525293 PMID:18667258 PMID:19111578 PMID:19659892 PMID:20008660 PMID:20194882 PMID:20802216 PMID:21959359 PMID:22507317 PMID:22810102 PMID:22906081 PMID:23638752 PMID:23861362 PMID:23990795 PMID:25333068 PMID:25352456 PMID:25714973 PMID:25741868 PMID:25937274 PMID:26166206 PMID:26194182 PMID:26242991 PMID:26467025 PMID:27117003 PMID:27312774 PMID:27357204 PMID:27535542 PMID:27567873 PMID:27644130 PMID:27777022 PMID:27930341 PMID:28082723 PMID:28350801 PMID:28448946 PMID:28492532 PMID:28554858 PMID:28749476 PMID:29142009 PMID:30090657 PMID:30279455 PMID:31467635 PMID:32588886 PMID:33769986 PMID:34603009 PMID:7596406 PMID:29641600 More...
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RGD:1302519, RGD:13782044 |
NCBI chr14:73,136,417...73,223,691
Ensembl chr14:73,136,418...73,223,691
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G |
PSEN2 |
presenilin 2 |
severity |
IAGP EXP |
DNA:missense mutation:cds:p.N141I (human) ClinVar Annotator: match by term: Alzheimer's disease ClinVar Annotator: match by term: Early-Onset Familial Alzheimer Disease ClinVar Annotator: match by term: Alzheimer disease CTD Direct Evidence: marker/mechanism DNA:missense mutations:cds:p.N141I, p.M239V (human) |
ClinVar CTD RGD |
PMID:9050898 PMID:9384602 PMID:11723295 PMID:12925374 PMID:14623725 PMID:15130954 PMID:15663477 PMID:16474849 PMID:16651627 PMID:17186461 PMID:17345043 PMID:17914065 PMID:18667258 PMID:19768372 PMID:20194882 PMID:21409510 PMID:22221884 PMID:22312439 PMID:22475797 PMID:22503161 PMID:23383383 PMID:23558482 PMID:23861362 PMID:23990795 PMID:24880964 PMID:25104557 PMID:25604855 PMID:25741868 PMID:25937274 PMID:26159191 PMID:26242991 PMID:26410308 PMID:26467025 PMID:26507310 PMID:26836416 PMID:26899768 PMID:28492532 PMID:30045758 PMID:30279455 PMID:31914229 PMID:32032730 PMID:32087291 PMID:32345996 PMID:32917274 PMID:10976645 PMID:9246481 More...
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RGD:9743900, RGD:1302522 |
NCBI chr 1:226,870,616...226,903,668
Ensembl chr 1:226,870,184...226,927,726
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G |
PTGER4 |
prostaglandin E receptor 4 |
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ISO |
|
RGD |
PMID:22044482 |
RGD:6483525 |
NCBI chr 5:40,679,915...40,746,800
Ensembl chr 5:40,679,915...40,693,735
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G |
PTGS1 |
prostaglandin-endoperoxide synthase 1 |
|
ISO IEP |
protein:increased expression:cerebral cortex |
RGD |
PMID:21701788 PMID:10560656 PMID:20157512 |
RGD:5688147, RGD:5688249, RGD:5688156 |
NCBI chr 9:122,370,533...122,395,703
Ensembl chr 9:122,370,530...122,395,703
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G |
PTGS2 |
prostaglandin-endoperoxide synthase 2 |
|
ISO IEP |
mRNA:decreased expression:neocortex, hippocampus |
RGD |
PMID:21701788 PMID:8892355 PMID:9740394 |
RGD:5688147, RGD:5688254, RGD:5688252 |
NCBI chr 1:186,671,791...186,680,423
Ensembl chr 1:186,671,791...186,680,922
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G |
PTK2B |
protein tyrosine kinase 2 beta |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:33589840 |
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NCBI chr 8:27,310,506...27,459,391
Ensembl chr 8:27,311,482...27,459,391
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G |
PTPN5 |
protein tyrosine phosphatase non-receptor type 5 |
severity |
IEP ISO |
protein:increased expression:prefrontal cortex (human) protein:increased expression:dentate gyrus (mouse) |
RGD |
PMID:20427654 PMID:16237174 PMID:20956308 |
RGD:9835008, RGD:10044037, RGD:9835007 |
NCBI chr11:18,727,928...18,792,721
Ensembl chr11:18,727,928...18,792,721
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G |
PYY |
peptide YY |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11709213 |
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NCBI chr17:43,952,733...44,004,445
Ensembl chr17:43,952,733...44,004,469
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G |
RBM11 |
RNA binding motif protein 11 |
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IAGP |
ClinVar Annotator: match by term: Alzheimer disease |
ClinVar |
PMID:16369530 PMID:16921174 PMID:24691562 |
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NCBI chr21:14,216,157...14,228,372
Ensembl chr21:14,216,130...14,228,372
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G |
RCAN1 |
regulator of calcineurin 1 |
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IDA |
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RGD |
PMID:11483593 |
RGD:1580889 |
NCBI chr21:34,516,442...34,615,113
Ensembl chr21:34,513,142...34,615,113
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G |
REG1A |
regenerating family member 1 alpha |
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IEP |
mRNA:increased expression:brain (human) |
RGD |
PMID:2394826 |
RGD:9850119 |
NCBI chr 2:79,120,488...79,123,409
Ensembl chr 2:79,120,362...79,123,409
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G |
RELN |
reelin |
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IEP EXP |
protein:increased expression:cerebrospinal fluid (human) CTD Direct Evidence: marker/mechanism protein: increased expression: brain |
CTD RGD |
PMID:20610758 PMID:12645087 PMID:20025970 |
RGD:729771, RGD:13207521 |
NCBI chr 7:103,471,789...103,989,658
Ensembl chr 7:103,471,381...103,989,658
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G |
RUNX1 |
RUNX family transcription factor 1 |
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IAGP |
associated with Down Syndrome |
RGD |
PMID:20946940 |
RGD:6482829 |
NCBI chr21:35,372,507...35,580,764
Ensembl chr21:34,787,801...36,004,667
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G |
S100B |
S100 calcium binding protein B |
severity |
ISO IMP IEP |
protein:decreased expression:cerebrospinal fluid |
RGD |
PMID:21080947 PMID:19705461 PMID:20105309 PMID:20953641 |
RGD:5508775, RGD:5508798, RGD:5508787, RGD:5508780 |
NCBI chr21:46,598,604...46,605,082
Ensembl chr21:46,598,604...46,605,208
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G |
SAMSN1 |
SAM domain, SH3 domain and nuclear localization signals 1 |
|
IAGP |
ClinVar Annotator: match by term: Alzheimer disease |
ClinVar |
PMID:16369530 PMID:16921174 PMID:24691562 |
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NCBI chr21:14,485,228...14,659,417
Ensembl chr21:14,485,228...14,658,821
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G |
SELL |
selectin L |
severity |
IEP |
protein:decreased expression:plasma |
RGD |
PMID:21484243 |
RGD:5685677 |
NCBI chr 1:169,690,667...169,711,620
Ensembl chr 1:169,690,665...169,711,702
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G |
SELP |
selectin P |
severity |
IEP |
protein:decreased expression:plasma |
RGD |
PMID:21484243 |
RGD:5685677 |
NCBI chr 1:169,588,849...169,630,124
Ensembl chr 1:169,588,849...169,630,193
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G |
SERPINE2 |
serpin family E member 2 |
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IDA |
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RGD |
PMID:2813392 |
RGD:2317937 |
NCBI chr 2:223,975,045...224,039,286
Ensembl chr 2:223,975,045...224,039,318
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G |
SERPINF1 |
serpin family F member 1 |
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ISO IEP |
protein:increased expression:cerebrospinal fluid, serum (human) |
RGD |
PMID:17073149 PMID:28320113 |
RGD:2312353, RGD:27226702 |
NCBI chr17:1,762,060...1,777,565
Ensembl chr17:1,762,029...1,777,565
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G |
SHC1 |
SHC adaptor protein 1 |
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ISO |
protein:increased phosphorylation:neuron |
RGD |
PMID:15837797 |
RGD:1643185 |
NCBI chr 1:154,962,298...154,974,376
Ensembl chr 1:154,962,298...154,974,395
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G |
SIRT1 |
sirtuin 1 |
treatment |
ISO |
protein:increased expression:forebrain (mouse) |
RGD |
PMID:17581637 PMID:16751189 |
RGD:2290573, RGD:10047116 |
NCBI chr10:67,884,656...67,918,390
Ensembl chr10:67,884,656...67,918,390
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G |
SIRT3 |
sirtuin 3 |
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IEP |
mRNA:increased expression:temporal cortex |
RGD |
PMID:23139766 |
RGD:9586045 |
NCBI chr11:215,030...236,931
Ensembl chr11:215,030...236,931
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G |
SLC18A3 |
solute carrier family 18 member A3 |
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IEP ISO |
mRNA, protein:decreased expression:frontal association cortex mRNA:decreased expression:cerebral cortex |
RGD |
PMID:21743130 PMID:21333939 |
RGD:5686430, RGD:5686673 |
NCBI chr10:49,610,310...49,612,720
Ensembl chr10:49,610,310...49,612,720
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G |
SLC25A4 |
solute carrier family 25 member 4 |
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IEP |
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RGD |
PMID:21958963 |
RGD:9681463 |
NCBI chr 4:185,143,266...185,150,382
Ensembl chr 4:185,143,266...185,150,382
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G |
SLC2A1 |
solute carrier family 2 member 1 |
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IEP |
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RGD |
PMID:8179300 |
RGD:2313620 |
NCBI chr 1:42,925,353...42,958,868
Ensembl chr 1:42,925,353...42,958,893
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G |
SLC2A3 |
solute carrier family 2 member 3 |
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IEP |
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RGD |
PMID:8179300 |
RGD:2313620 |
NCBI chr12:7,919,230...7,936,187
Ensembl chr12:7,919,230...8,019,007
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G |
SLC2A4 |
solute carrier family 2 member 4 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24055495 |
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NCBI chr17:7,281,718...7,288,257
Ensembl chr17:7,281,718...7,288,257
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G |
SLC30A4 |
solute carrier family 30 member 4 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16580781 |
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NCBI chr15:45,479,606...45,522,755
Ensembl chr15:45,479,606...45,522,755
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G |
SLC30A6 |
solute carrier family 30 member 6 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16580781 |
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NCBI chr 2:32,165,864...32,224,379
Ensembl chr 2:32,165,841...32,224,379
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G |
SLC8A1 |
solute carrier family 8 member A1 |
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IEP |
protein:altered expression:synaptosome: |
RGD |
PMID:21382638 |
RGD:13628395 |
NCBI chr 2:40,097,270...40,512,435
Ensembl chr 2:40,097,270...40,611,053
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G |
SLC8A2 |
solute carrier family 8 member A2 |
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IEP |
protein:altered expression:synaptosome: |
RGD |
PMID:21382638 |
RGD:13628395 |
NCBI chr19:47,428,017...47,471,893
Ensembl chr19:47,428,017...47,471,893
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G |
SLC8A3 |
solute carrier family 8 member A3 |
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IEP |
protein:altered expression:parietal cortex, synaptosome: |
RGD |
PMID:21382638 |
RGD:13628395 |
NCBI chr14:70,044,215...70,189,405
Ensembl chr14:70,044,215...70,189,480
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G |
SNAP91 |
synaptosome associated protein 91 |
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IEP ISO |
protein:decreased expression:dentate gyrus molecular layer,hippocampus,entorhinal, tempocampal corteces: denntate gyrus, hippocampus, entorhinal cortex |
RGD |
PMID:20847448 PMID:20847448 |
RGD:13506238, RGD:13506238 |
NCBI chr 6:83,552,885...83,709,393
Ensembl chr 6:83,552,880...83,709,691
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G |
SNAR-I |
small NF90 (ILF3) associated RNA I |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30320580 |
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NCBI chr 3:190,877,930...190,878,050
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G |
SNCA |
synuclein alpha |
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IMP IEP |
human gene in a mouse model protein:increased expression:cerebrospinal fluid |
RGD |
PMID:11572944 PMID:18577885 |
RGD:1302528, RGD:6478792 |
NCBI chr 4:89,724,099...89,838,304
Ensembl chr 4:89,700,345...89,838,315
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G |
SNCB |
synuclein beta |
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IEP |
mRNA:decreased expression:brain |
RGD |
PMID:11578596 |
RGD:6480194 |
NCBI chr 5:176,620,082...176,630,534
Ensembl chr 5:176,620,082...176,630,556
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G |
SNCG |
synuclein gamma |
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IEP |
protein:increased expression:cerebrospinal fluid |
RGD |
PMID:18577885 |
RGD:6478792 |
NCBI chr10:86,955,759...86,963,258
Ensembl chr10:86,958,599...86,963,258
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G |
SNRNP70 |
small nuclear ribonucleoprotein U1 subunit 70 |
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IEP |
protein:increased expression:cerebral cortex (human) |
RGD |
PMID:24023061 |
RGD:10448959 |
NCBI chr19:49,085,451...49,108,604
Ensembl chr19:49,085,419...49,108,605
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G |
SNRPA |
small nuclear ribonucleoprotein polypeptide A |
|
IEP |
protein:increased expression:cerebral cortex (human) |
RGD |
PMID:24023061 |
RGD:10448959 |
NCBI chr19:40,751,203...40,765,389
Ensembl chr19:40,750,637...40,765,389
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G |
SOD1 |
superoxide dismutase 1 |
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ISO IEP |
protein:decreased expression:frontal lobe (human) mRNA:altered expression:hippocampus, hypothalamus (rat) |
RGD |
PMID:22072713 PMID:22072713 PMID:20027333 |
RGD:8655610, RGD:8655610, RGD:8657017 |
NCBI chr21:31,659,693...31,668,931
Ensembl chr21:31,659,666...31,668,931
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G |
SOD2 |
superoxide dismutase 2 |
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IDA EXP |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:19374891 PMID:16369462 |
RGD:1579972 |
NCBI chr 6:159,669,069...159,762,281
Ensembl chr 6:159,669,069...159,762,529
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G |
SORL1 |
sortilin related receptor 1 |
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IDA |
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RGD |
PMID:15313836 |
RGD:1581303 |
NCBI chr11:121,452,314...121,633,763
Ensembl chr11:121,452,314...121,633,763
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G |
SPINT1 |
serine peptidase inhibitor, Kunitz type 1 |
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IEP |
protein:decreased expression:parietal cortex (human) |
RGD |
PMID:9743567 |
RGD:1581317 |
NCBI chr15:40,844,048...40,858,207
Ensembl chr15:40,844,018...40,858,207
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G |
SPRED2 |
sprouty related EVH1 domain containing 2 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:33589840 |
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NCBI chr 2:65,307,175...65,432,599
Ensembl chr 2:65,310,851...65,432,637
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G |
STAT3 |
signal transducer and activator of transcription 3 |
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IDA ISO |
protein:decreased tyrosine phosphorylation:dentate gyrus protein:decreased tyrosine phosphorylation:dentate gyrus, CA1 field of hippocampus |
RGD |
PMID:18813209 PMID:18813209 |
RGD:10403051, RGD:10403051 |
NCBI chr17:42,313,324...42,388,442
Ensembl chr17:42,313,324...42,388,568
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G |
STOX1 |
storkhead box 1 |
severity |
IEP |
protein:increased expression:CA4 field of hippocampus (human) |
RGD |
PMID:20110611 |
RGD:11554028 |
NCBI chr10:68,827,531...68,895,432
Ensembl chr10:68,827,531...68,895,432
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G |
SYP |
synaptophysin |
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IEP ISO |
protein:decreased expression:dentate gyrus molecular layer,hippocampus,entorhinal, tempocampal corteces: mRNA,protein:decreased expression:hippocampus, temporal cortex denntate gyrus, hippocampus, entorhinal cortex |
RGD |
PMID:20847448 PMID:20847448 PMID:20847448 |
RGD:13506238, RGD:13506238, RGD:13506238 |
NCBI chr X:49,187,815...49,200,193
Ensembl chr X:49,187,815...49,200,218
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G |
TAP2 |
transporter 2, ATP binding cassette subfamily B member |
susceptibility |
IAGP |
DNA:SNP: :(rs241448)(human) |
RGD |
PMID:16595160 |
RGD:6482265 |
NCBI chr 6:32,821,831...32,838,739
Ensembl chr 6:32,821,833...32,838,739
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G |
TARDBP |
TAR DNA binding protein |
|
IEP ISO |
protein:increased expression, phosphorylation:motor cortex protein:increased expression:brain |
RGD |
PMID:21376022 PMID:21070634 |
RGD:5687139, RGD:5687178 |
NCBI chr 1:11,012,654...11,030,528
Ensembl chr 1:11,012,344...11,030,528
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G |
TBP |
TATA-box binding protein |
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IEP |
protein:increased expression:hippocampus, entorhinal cortex (human) |
RGD |
PMID:15193429 |
RGD:5684338 |
NCBI chr 6:170,554,369...170,572,859
Ensembl chr 6:170,554,302...170,572,870
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G |
TDO2 |
tryptophan 2,3-dioxygenase |
treatment |
ISO |
|
RGD |
PMID:27190010 |
RGD:13601984 |
NCBI chr 4:155,903,696...155,920,406
Ensembl chr 4:155,854,738...155,920,406
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G |
TF |
transferrin |
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EXP IAGP |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Transferrin variant C1/C2 |
CTD ClinVar |
PMID:9272172 PMID:15060098 PMID:17192785 PMID:20029940 PMID:25741868 PMID:28492532 More...
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NCBI chr 3:133,661,998...133,796,641
Ensembl chr 3:133,746,040...133,796,641
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G |
TFAM |
transcription factor A, mitochondrial |
susceptibility |
IAGP EXP |
DNA:SNP: :rs1937 (human) CTD Direct Evidence: marker/mechanism DNA:SNP:intron:IVS4+113A>G (rs2306604) (human) |
CTD RGD |
PMID:17192785 PMID:21799244 PMID:17537576 |
RGD:6767575, RGD:6771185 |
NCBI chr10:58,385,410...58,399,220
Ensembl chr10:58,385,345...58,399,220
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G |
THBD |
thrombomodulin |
|
IEP |
protein:increased expression:blood |
RGD |
PMID:15760641 |
RGD:5685018 |
NCBI chr20:23,045,633...23,049,672
Ensembl chr20:23,045,633...23,049,672
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G |
TIMP2 |
TIMP metallopeptidase inhibitor 2 |
|
IEP |
|
RGD |
PMID:12614934 |
RGD:1580169 |
NCBI chr17:78,852,977...78,925,387
Ensembl chr17:78,852,977...78,925,387
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G |
TLR4 |
toll like receptor 4 |
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IAGP |
|
RGD |
PMID:16157451 |
RGD:1580680 |
NCBI chr 9:117,704,403...117,724,735
Ensembl chr 9:117,704,175...117,724,735
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G |
TMED10 |
transmembrane p24 trafficking protein 10 |
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IEP |
protein:decreased expression:brain cortex (human) |
RGD |
PMID:18652896 |
RGD:2317276 |
NCBI chr14:75,131,469...75,176,612
Ensembl chr14:75,131,469...75,176,612
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G |
TMPRSS15 |
transmembrane serine protease 15 |
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IAGP |
ClinVar Annotator: match by term: Alzheimer disease |
ClinVar |
PMID:16369530 PMID:16921174 PMID:24691562 |
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NCBI chr21:18,269,116...18,485,884
Ensembl chr21:18,269,116...18,485,879
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G |
TNF |
tumor necrosis factor |
no_association onset susceptibility |
IAGP IEP EXP |
DNA:polymorphism:promoter:multiple(human) DNA:polymorphism:promoter:-308G>A(human) protein:decreased expression:brain: DNA:haploltype:promoter:-863A>C,-308G>A(human) protein:increased secretion:serum: CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Alzheimer disease, protection against |
CTD ClinVar RGD |
PMID:10400991 PMID:16908746 PMID:17192785 PMID:12962917 PMID:18834925 PMID:15468911 PMID:9772027 PMID:16516271 PMID:16908746 PMID:18992723 PMID:18992723 More...
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RGD:1580320, RGD:13825257, RGD:13825256, RGD:13825255, RGD:13825253, RGD:13825250, RGD:13825248, RGD:13825248 |
NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
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G |
TNFRSF1A |
TNF receptor superfamily member 1A |
no_association |
IEP ISO |
protein:increased expression:brain: protein:increased expression:cerebrospinal fluid: |
RGD |
PMID:20110607 PMID:21978728 PMID:17724122 PMID:17267158 |
RGD:13825249, RGD:13825268, RGD:13825267, RGD:13825266 |
NCBI chr12:6,328,771...6,342,076
Ensembl chr12:6,328,757...6,342,114
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G |
TNFRSF1B |
TNF receptor superfamily member 1B |
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IEP |
protein:decreased expression:brain: protein:increased expression:cerebrospinal fluid: |
RGD |
PMID:20110607 PMID:21978728 |
RGD:13825249, RGD:13825268 |
NCBI chr 1:12,166,991...12,209,220
Ensembl chr 1:12,166,991...12,209,228
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G |
TOMM40 |
translocase of outer mitochondrial membrane 40 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27023435 PMID:29107063 PMID:30319691 PMID:30320580 |
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NCBI chr19:44,891,254...44,903,689
Ensembl chr19:44,890,569...44,903,689
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G |
TP53 |
tumor protein p53 |
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ISO |
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RGD |
PMID:17581637 |
RGD:2290573 |
NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,546
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G |
TPH1 |
tryptophan hydroxylase 1 |
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IAGP |
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RGD |
PMID:15182943 |
RGD:1580467 |
NCBI chr11:18,017,555...18,046,269
Ensembl chr11:18,017,555...18,046,269
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G |
TPI1 |
triosephosphate isomerase 1 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19374891 |
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NCBI chr12:6,867,420...6,870,948
Ensembl chr12:6,867,119...6,870,948
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G |
TPP1 |
tripeptidyl peptidase 1 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10320038 |
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NCBI chr11:6,612,768...6,619,422
Ensembl chr11:6,612,768...6,619,448
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G |
TREM2 |
triggering receptor expressed on myeloid cells 2 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24663666 PMID:28714976 |
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NCBI chr 6:41,158,508...41,163,116
Ensembl chr 6:41,158,506...41,163,186
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G |
TSC2 |
TSC complex subunit 2 |
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IEP |
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RGD |
PMID:16341938 |
RGD:1580518 |
NCBI chr16:2,047,985...2,089,491
Ensembl chr16:2,047,967...2,089,491
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G |
TSPAN14 |
tetraspanin 14 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:33589840 |
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NCBI chr10:80,454,310...80,522,631
Ensembl chr10:80,454,265...80,533,124
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G |
TTR |
transthyretin |
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IDA |
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RGD |
PMID:16552785 |
RGD:1580525 |
NCBI chr18:31,591,877...31,598,821
Ensembl chr18:31,557,009...31,598,833
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G |
UCHL1 |
ubiquitin C-terminal hydrolase L1 |
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IDA |
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RGD |
PMID:14722078 |
RGD:1580538 |
NCBI chr 4:41,256,928...41,268,455
Ensembl chr 4:41,256,413...41,268,455
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G |
UCP1 |
uncoupling protein 1 |
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IEP |
protein:decreased expression:plasma (human) |
RGD |
PMID:24498895 |
RGD:10045648 |
NCBI chr 4:140,559,431...140,568,961
Ensembl chr 4:140,559,431...140,568,961
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G |
UQCRC1 |
ubiquinol-cytochrome c reductase core protein 1 |
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IDA IEP |
DNA:hypermethylation:promoter: protein:decreased expression:temporal cortex |
RGD |
PMID:26943237 PMID:11130185 |
RGD:11572212, RGD:13831335 |
NCBI chr 3:48,599,002...48,609,646
Ensembl chr 3:48,599,002...48,610,976
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G |
USP25 |
ubiquitin specific peptidase 25 |
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IAGP |
ClinVar Annotator: match by term: Alzheimer disease |
ClinVar |
PMID:16369530 PMID:16921174 PMID:24691562 |
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NCBI chr21:15,729,982...15,880,064
Ensembl chr21:15,729,982...15,880,064
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G |
VCP |
valosin containing protein |
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IAGP |
ClinVar Annotator: match by term: Alzheimer disease |
ClinVar |
PMID:30279455 |
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NCBI chr 9:35,056,064...35,072,625
Ensembl chr 9:35,053,928...35,072,668
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G |
VEGFA |
vascular endothelial growth factor A |
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IAGP EXP |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:15732116 PMID:15732116 |
RGD:1580571 |
NCBI chr 6:43,770,211...43,786,487
Ensembl chr 6:43,770,184...43,786,487
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G |
VIM |
vimentin |
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IEP ISO |
protein:increased expression:brain |
RGD |
PMID:19728994 PMID:19728994 |
RGD:6480519, RGD:6480519 |
NCBI chr10:17,228,241...17,237,593
Ensembl chr10:17,228,241...17,237,593
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G |
VLDLR |
very low density lipoprotein receptor |
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IAGP |
DNA:repeat |
RGD |
PMID:7550352 |
RGD:737739 |
NCBI chr 9:2,621,787...2,660,056
Ensembl chr 9:2,621,182...2,660,056
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G |
VPS13C |
vacuolar protein sorting 13 homolog C |
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IAGP |
ClinVar Annotator: match by term: Alzheimer disease, early onset |
ClinVar |
PMID:25741868 |
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NCBI chr15:61,852,389...62,060,447
Ensembl chr15:61,852,389...62,060,473
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G |
VSNL1 |
visinin like 1 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25806004 |
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NCBI chr 2:17,539,972...17,657,018
Ensembl chr 2:17,539,126...17,657,018
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G |
WT1 |
WT1 transcription factor |
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IDA |
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RGD |
PMID:12914969 |
RGD:1580623 |
NCBI chr11:32,387,775...32,435,539
Ensembl chr11:32,387,775...32,435,564
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G |
WWOX |
WW domain containing oxidoreductase |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30820047 |
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NCBI chr16:78,099,654...79,212,667
Ensembl chr16:78,099,400...79,212,667
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G |
XRN1 |
5'-3' exoribonuclease 1 |
susceptibility |
IAGP |
DNA:snp:intron:c.1883+365T>C (rs1351965) (human) |
RGD |
PMID:22984654 |
RGD:11528589 |
NCBI chr 3:142,306,610...142,448,037
Ensembl chr 3:142,306,607...142,448,062
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G |
APP |
amyloid beta precursor protein |
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IAGP |
ClinVar Annotator: match by term: Alzheimer disease type 1 ClinVar Annotator: match by term: APP-related condition ClinVar Annotator: match by term: APP POLYMORPHISM |
ClinVar OMIM |
PMID:1303172 PMID:1303239 PMID:1303275 PMID:1415269 PMID:1520398 PMID:1584464 PMID:1634237 PMID:1671712 PMID:1674311 PMID:1678057 PMID:1678058 PMID:1679288 PMID:1908231 PMID:1925564 PMID:1944558 PMID:7611715 PMID:7686976 PMID:7806491 PMID:7845465 PMID:8154870 PMID:8191290 PMID:8290965 PMID:8410047 PMID:8461968 PMID:8499923 PMID:8513318 PMID:8577393 PMID:8644866 PMID:8649577 PMID:8650548 PMID:8863158 PMID:8886002 PMID:9328472 PMID:9536098 PMID:9754958 PMID:9848098 PMID:10097173 PMID:10441572 PMID:10611368 PMID:10631141 PMID:10821838 PMID:10867787 PMID:11004129 PMID:11063718 PMID:11311152 PMID:11487570 PMID:11528419 PMID:11568920 PMID:11910111 PMID:11978821 PMID:12034808 PMID:12552037 PMID:12707272 PMID:14623725 PMID:14769392 PMID:15365148 PMID:15488330 PMID:15502844 PMID:15668448 PMID:15776278 PMID:16033913 PMID:16505331 PMID:16931535 PMID:17170111 PMID:17493013 PMID:17576681 PMID:18187157 PMID:18234110 PMID:18413473 PMID:18437002 PMID:19281847 PMID:19363265 PMID:19950418 PMID:20005601 PMID:20063202 PMID:20301414 PMID:20452980 PMID:20452985 PMID:20523046 PMID:20634584 PMID:21210284 PMID:21777674 PMID:21980910 PMID:22312439 PMID:22503161 PMID:22702962 PMID:23143229 PMID:23224319 PMID:23380992 PMID:23515184 PMID:24033266 PMID:24278680 PMID:24390130 PMID:24524897 PMID:24650794 PMID:24677022 PMID:24694184 PMID:24880964 PMID:24949887 PMID:25053581 PMID:25104557 PMID:25137638 PMID:25138979 PMID:25174650 PMID:25604855 PMID:25703165 PMID:25741868 PMID:25948718 PMID:26242991 PMID:26402770 PMID:26444762 PMID:26467025 PMID:26803359 PMID:26888304 PMID:27312774 PMID:27777022 PMID:27838006 PMID:28304299 PMID:28350801 PMID:28492532 PMID:29263818 PMID:29459625 PMID:29770843 PMID:29859640 PMID:30045758 PMID:30279455 PMID:31011484 PMID:31719132 PMID:32087291 PMID:32908482 PMID:33268848 PMID:33445953 More...
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NCBI chr21:25,880,550...26,171,128
Ensembl chr21:25,880,535...26,171,128
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G |
APP-DT |
APP divergent transcript |
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IAGP |
ClinVar Annotator: match by term: APP-related condition |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr21:26,170,867...26,217,384
Ensembl chr21:26,170,871...26,217,381
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G |
HFE |
homeostatic iron regulator |
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IAGP |
ClinVar Annotator: match by term: Alzheimer disease type 1 |
ClinVar |
PMID:678784 PMID:8696333 PMID:8896549 PMID:8896550 PMID:8931958 PMID:9024376 PMID:9138148 PMID:9162021 PMID:9211748 PMID:9321765 PMID:9326341 PMID:9328324 PMID:9341868 PMID:9356458 PMID:9439654 PMID:9462220 PMID:9482831 PMID:9585606 PMID:9851896 PMID:9851897 PMID:10194428 PMID:10381492 PMID:10401000 PMID:10431233 PMID:10575540 PMID:10660483 PMID:11040194 PMID:11336458 PMID:11532995 PMID:11812557 PMID:11903354 PMID:12241803 PMID:12377814 PMID:12429850 PMID:12436244 PMID:12542741 PMID:12693884 PMID:12707220 PMID:12915468 PMID:14618419 PMID:14729817 PMID:15060098 PMID:15070663 PMID:15254010 PMID:15280838 PMID:15347835 PMID:15858186 PMID:16132052 PMID:16199547 PMID:16879202 PMID:17389307 PMID:17450498 PMID:17828789 PMID:18199861 PMID:18499578 PMID:18504828 PMID:18566337 PMID:19084217 PMID:19159930 PMID:19429178 PMID:19444013 PMID:19554541 PMID:19681031 PMID:20107990 PMID:20301613 PMID:20471131 PMID:21243428 PMID:21452290 PMID:22531912 PMID:23178241 PMID:23953397 PMID:24033266 PMID:24604426 PMID:25457201 PMID:25728773 PMID:25741868 PMID:25741869 PMID:25850353 PMID:26153218 PMID:26365338 PMID:27124787 PMID:27173269 PMID:27518069 PMID:27659401 PMID:27890643 PMID:28492532 PMID:29404719 PMID:31061747 PMID:31335359 PMID:31436889 PMID:31980526 PMID:32153640 PMID:37260121 More...
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NCBI chr 6:26,087,429...26,098,343
Ensembl chr 6:26,087,226...26,098,343
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G |
HFE-AS1 |
HFE antisense RNA 1 |
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IAGP |
ClinVar Annotator: match by term: Alzheimer disease type 1 |
ClinVar |
PMID:10194428 PMID:10660483 PMID:11336458 PMID:12377814 PMID:16199547 PMID:19159930 PMID:19681031 PMID:20107990 PMID:20301613 PMID:21452290 PMID:25741868 PMID:26153218 PMID:27173269 PMID:27518069 PMID:28492532 PMID:29404719 More...
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NCBI chr 6:26,086,290...26,091,034
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G |
LOC106694316 |
enhancer region in introns 7-9 of MPO |
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IAGP |
ClinVar Annotator: match by term: Alzheimer disease type 1 |
ClinVar |
PMID:7904599 PMID:8142659 PMID:8621627 PMID:9468285 PMID:9507022 PMID:15108282 PMID:17384005 PMID:18273043 PMID:25741868 PMID:27013444 PMID:31589614 PMID:32531373 PMID:32758447 PMID:32758448 More...
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NCBI chr17:58,272,255...58,277,462
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G |
LOC126653330 |
CDK7 strongly-dependent group 2 enhancer GRCh37_chr21:27326978-27328177 |
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IAGP |
ClinVar Annotator: match by term: APP-related condition |
ClinVar |
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 |
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NCBI chr21:25,954,664...25,955,863
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G |
MPO |
myeloperoxidase |
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IAGP |
ClinVar Annotator: match by term: Alzheimer disease type 1 |
ClinVar OMIM |
PMID:6260268 PMID:7904599 PMID:8142659 PMID:8621627 PMID:9468285 PMID:9507022 PMID:9766845 PMID:15108282 PMID:17384005 PMID:18273043 PMID:24033266 PMID:25741868 PMID:26764160 PMID:26822949 PMID:27013444 PMID:30487145 PMID:31589614 PMID:31980526 PMID:32531373 PMID:32758447 PMID:32758448 PMID:34426522 More...
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NCBI chr17:58,269,855...58,280,935
Ensembl chr17:58,269,855...58,280,935
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G |
NOS3 |
nitric oxide synthase 3 |
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IAGP |
ClinVar Annotator: match by term: Alzheimer disease type 1 |
ClinVar |
PMID:25741868 |
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NCBI chr 7:150,991,017...151,014,588
Ensembl chr 7:150,991,017...151,014,588
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G |
PLAU |
plasminogen activator, urokinase |
susceptibility |
IAGP |
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OMIM |
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NCBI chr10:73,909,164...73,917,494
Ensembl chr10:73,909,177...73,917,496
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G |
ADAM10 |
ADAM metallopeptidase domain 10 |
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IAGP |
ClinVar Annotator: match by term: Alzheimer disease 18 |
ClinVar OMIM |
PMID:19608551 PMID:24055016 |
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NCBI chr15:58,588,809...58,749,707
Ensembl chr15:58,588,809...58,749,791
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G |
PLD3 |
phospholipase D family member 3 |
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IAGP |
ClinVar Annotator: match by term: Alzheimer disease 19 |
ClinVar |
PMID:24336208 PMID:25832408 PMID:25832410 PMID:25832411 PMID:25832412 PMID:28492532 More...
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NCBI chr19:40,348,695...40,378,485
Ensembl chr19:40,348,456...40,389,472
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G |
APOE |
apolipoprotein E |
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IAGP EXP |
ClinVar Annotator: match by term: Late-onset familial alzheimer disease ClinVar Annotator: match by term: Alzheimer disease 2 | ClinVar Annotator: match by term: Late-onset familial alzheimer disease ClinVar Annotator: match by term: Alzheimer disease associated with APOE E4 | ClinVar Annotator: match by term: Late-onset familial alzheimer disease CTD Direct Evidence: marker/mechanism |
ClinVar OMIM CTD |
PMID:2987927 PMID:3353383 PMID:3922972 PMID:7263700 PMID:8294487 PMID:8346443 PMID:8350998 PMID:8488843 PMID:8618665 PMID:8644717 PMID:9279208 PMID:9343467 PMID:9360638 PMID:9932938 PMID:10213549 PMID:10799751 PMID:11835377 PMID:11940689 PMID:11940706 PMID:14741101 PMID:15048896 PMID:15146461 PMID:15184602 PMID:15326261 PMID:15557508 PMID:15668424 PMID:18338393 PMID:18979180 PMID:18987351 PMID:19605830 PMID:19846850 PMID:21742527 PMID:22381401 PMID:22949395 PMID:23060451 PMID:23296339 PMID:23571587 PMID:24033266 PMID:24126160 PMID:25741868 PMID:27260402 PMID:28492532 PMID:29842932 PMID:32376954 PMID:32808727 PMID:35120450 PMID:35628605 PMID:35639372 More...
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NCBI chr19:44,905,796...44,909,393
Ensembl chr19:44,905,791...44,909,393
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G |
APOE |
apolipoprotein E |
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IAGP |
ClinVar Annotator: match by term: Alzheimer disease 3 ClinVar Annotator: match by term: ALZHEIMER DISEASE, FAMILIAL, 3 | ClinVar Annotator: match by term: Alzheimer disease 3 |
ClinVar OMIM |
PMID:8488843 PMID:9279208 PMID:9360638 PMID:10432380 PMID:10529625 PMID:18077821 PMID:22949395 PMID:24126160 PMID:25741868 PMID:28492532 PMID:32808727 PMID:35120450 PMID:35628605 PMID:35639372 More...
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NCBI chr19:44,905,796...44,909,393
Ensembl chr19:44,905,791...44,909,393
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G |
KIF5C |
kinesin family member 5C |
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IEP |
protein:decreased expression:cerebellum (human) |
RGD |
PMID:24569455 |
RGD:12859086 |
NCBI chr 2:148,875,227...149,026,759
Ensembl chr 2:148,875,227...149,026,759
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G |
LRRK2 |
leucine rich repeat kinase 2 |
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IAGP |
ClinVar Annotator: match by term: Early onset Alzheimer disease with behavioral disturbance |
ClinVar |
PMID:18412265 PMID:18688798 PMID:18716801 PMID:18781329 PMID:19699188 PMID:20301387 PMID:20642453 PMID:21885347 PMID:25243190 PMID:25741868 PMID:26930193 PMID:28492532 More...
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NCBI chr12:40,224,997...40,369,285
Ensembl chr12:40,196,744...40,369,285
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G |
PSEN1 |
presenilin 1 |
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IAGP ISS |
ClinVar Annotator: match by term: Alzheimer disease 3 ClinVar Annotator: match by term: ALZHEIMER DISEASE, FAMILIAL, 3 ClinVar Annotator: match by term: ALZHEIMER DISEASE, FAMILIAL, 3 | ClinVar Annotator: match by term: Alzheimer disease 3 OMIM:607822 ClinVar Annotator: match by term: Early onset Alzheimer disease with behavioral disturbance |
OMIM ClinVar MouseDO |
PMID:1985297 PMID:2025423 PMID:2793034 PMID:7550356 PMID:7581374 PMID:7585193 PMID:7596406 PMID:7623584 PMID:7623585 PMID:7651536 PMID:7824141 PMID:7942850 PMID:8538334 PMID:8634711 PMID:8634712 PMID:8733303 PMID:8733749 PMID:8755489 PMID:8773614 PMID:8837617 PMID:8905716 PMID:8910898 PMID:8931704 PMID:8962160 PMID:8986743 PMID:9007097 PMID:9007311 PMID:9051814 PMID:9052708 PMID:9126060 PMID:9172170 PMID:9189043 PMID:9196071 PMID:9225696 PMID:9292884 PMID:9384602 PMID:9436726 PMID:9437013 PMID:9443865 PMID:9450754 PMID:9452052 PMID:9502232 PMID:9507958 PMID:9521418 PMID:9521423 PMID:9536098 PMID:9540849 PMID:9544835 PMID:9546792 PMID:9680315 PMID:9712537 PMID:9728730 PMID:9804121 PMID:9811326 PMID:9831473 PMID:9833068 PMID:9851443 PMID:9851450 PMID:9915968 PMID:10075646 PMID:10090481 PMID:10327206 PMID:10366599 PMID:10401002 PMID:10430510 PMID:10439444 PMID:10441572 PMID:10447269 PMID:10448055 PMID:10468510 PMID:10502791 PMID:10525535 PMID:10548420 PMID:10549825 PMID:10594046 PMID:10631141 PMID:10643802 PMID:10720282 PMID:10754226 PMID:10764737 PMID:10775535 PMID:10783295 PMID:10811883 PMID:10854108 PMID:11013240 PMID:11027672 PMID:11043553 PMID:11070093 PMID:11079548 PMID:11094121 PMID:11094128 PMID:11102478 PMID:11124426 PMID:11126202 PMID:11157069 PMID:11198283 PMID:11389157 PMID:11395394 PMID:11402113 PMID:11432849 PMID:11489281 PMID:11504726 PMID:11524469 PMID:11568920 PMID:11684347 PMID:11701593 PMID:11710891 PMID:11764087 PMID:11796781 PMID:11836371 PMID:11895378 PMID:11920851 PMID:11959395 PMID:11978814 PMID:11992262 PMID:12048239 PMID:12111359 PMID:12119298 PMID:12192622 PMID:12370477 PMID:12392798 PMID:12433263 PMID:12484344 PMID:12493631 PMID:12493737 PMID:12549925 PMID:12552037 PMID:12615638 PMID:12660785 PMID:12752408 PMID:12805290 PMID:12810495 PMID:12817569 PMID:12885573 PMID:12891668 PMID:14557582 PMID:14623725 PMID:14743455 PMID:14769392 PMID:14966176 PMID:15003276 PMID:15004326 PMID:15094846 PMID:15115757 PMID:15119739 PMID:15122701 PMID:15205973 PMID:15272895 PMID:15337637 PMID:15534260 PMID:15622541 PMID:15718035 PMID:15772361 PMID:15776278 PMID:16033913 PMID:16116115 PMID:16199547 PMID:16216949 PMID:16227967 PMID:16267640 PMID:16344340 PMID:16533963 PMID:16534109 PMID:16628450 PMID:16651627 PMID:16669732 PMID:16710641 PMID:16752394 PMID:16897084 PMID:16923167 PMID:16930450 PMID:16941492 PMID:16952411 PMID:16959576 PMID:17108687 PMID:17186461 PMID:17188713 PMID:17197420 PMID:17254019 PMID:17288597 PMID:17320044 PMID:17366635 PMID:17431506 PMID:17493013 PMID:17502474 PMID:17545141 PMID:17553989 PMID:17576681 PMID:17615170 PMID:17854491 PMID:17931627 PMID:17962197 PMID:17968601 PMID:18024701 PMID:18045903 PMID:18350357 PMID:18479822 PMID:18482978 PMID:18525293 PMID:18580586 PMID:18587238 PMID:18637955 PMID:18667258 PMID:18760694 PMID:18797263 PMID:19005074 PMID:19021905 PMID:19111578 PMID:19196715 PMID:19276550 PMID:19276551 PMID:19430857 PMID:19457079 PMID:19555742 PMID:19659892 PMID:19667325 PMID:19776335 PMID:19849793 PMID:19912322 PMID:19915487 PMID:20047059 PMID:20049724 PMID:20083199 PMID:20145736 PMID:20157243 PMID:20164095 PMID:20194882 PMID:20205669 PMID:20301414 PMID:20332427 PMID:20460383 PMID:20481270 PMID:20484632 PMID:20628413 PMID:20634584 PMID:20729396 PMID:20847418 PMID:21094210 PMID:21335660 PMID:21357415 PMID:21373759 PMID:21422519 PMID:21531718 PMID:21559198 PMID:21559374 PMID:21685457 PMID:21725313 PMID:21726674 PMID:21822699 PMID:21919498 PMID:21952501 PMID:21959359 PMID:22115042 PMID:22118943 PMID:22188655 PMID:22221884 PMID:22232349 PMID:22242180 PMID:22306804 PMID:22312439 PMID:22343824 PMID:22426017 PMID:22460587 PMID:22461631 PMID:22475797 PMID:22503161 PMID:22505025 PMID:22508690 PMID:22517194 PMID:22572737 PMID:22581678 PMID:22584618 PMID:22689192 PMID:22766738 PMID:22810102 PMID:22906081 PMID:22956200 PMID:23085935 PMID:23114514 PMID:23123781 PMID:23341831 PMID:23380992 PMID:23383383 PMID:23409063 PMID:23483213 PMID:23539189 PMID:23570890 PMID:23579325 PMID:23588422 PMID:23638752 PMID:23705774 PMID:23752245 PMID:23792692 PMID:23843529 PMID:23850332 PMID:23861362 PMID:23885714 PMID:23990795 PMID:24011544 PMID:24093083 PMID:24121961 PMID:24158021 PMID:24217025 PMID:24304563 PMID:24352661 PMID:24418614 PMID:24463146 PMID:24559647 PMID:24625695 PMID:24698269 PMID:24773620 PMID:24860142 PMID:24880964 PMID:24918054 PMID:24928124 PMID:25027006 PMID:25108559 PMID:25174650 PMID:25182737 PMID:25217249 PMID:25239621 PMID:25285942 PMID:25299611 PMID:25323700 PMID:25326637 PMID:25333068 PMID:25394380 PMID:25471389 PMID:25741723 PMID:25741868 PMID:25921538 PMID:25937274 PMID:25959826 PMID:26051801 PMID:26166206 PMID:26194182 PMID:26214276 PMID:26242991 PMID:26243271 PMID:26337232 PMID:26396515 PMID:26410308 PMID:26438723 PMID:26462451 PMID:26467025 PMID:26481686 PMID:26549787 PMID:26756738 PMID:26826204 PMID:26888304 PMID:26923592 PMID:26925509 PMID:27014028 PMID:27014058 PMID:27073747 PMID:27100199 PMID:27100200 PMID:27206484 PMID:27264813 PMID:27312774 PMID:27345973 PMID:27357204 PMID:27454811 PMID:27535542 PMID:27540966 PMID:27614114 PMID:27622770 PMID:27644130 PMID:27777022 PMID:27793474 PMID:27810638 PMID:27816212 PMID:27836335 PMID:27926491 PMID:27930341 PMID:28008242 PMID:28082723 PMID:28269784 PMID:28323683 PMID:28350801 PMID:28492532 PMID:28532646 PMID:28550247 PMID:28554858 PMID:28749476 PMID:28753424 PMID:28767663 PMID:29091718 PMID:29142009 PMID:29316780 PMID:29404783 PMID:29494861 PMID:29525180 PMID:29571857 PMID:29661148 PMID:29692703 PMID:29874583 PMID:30021643 PMID:30045758 PMID:30054184 PMID:30090657 PMID:30138848 PMID:30200536 PMID:30279455 PMID:30412504 PMID:30528841 PMID:30567237 PMID:30590039 PMID:30598257 PMID:30630874 PMID:30716424 PMID:30745123 PMID:30797548 PMID:30814350 PMID:30822634 PMID:30924900 PMID:30954774 PMID:31109937 PMID:31153663 PMID:31235249 PMID:31381512 PMID:31440394 PMID:31536626 PMID:31686034 PMID:31847883 PMID:31914229 PMID:31996268 PMID:32032730 PMID:32087291 PMID:32103039 PMID:32105841 PMID:32328830 PMID:32395715 PMID:32556937 PMID:32579498 PMID:32590294 PMID:32594361 PMID:32894632 PMID:32917274 PMID:33188013 PMID:33188256 PMID:33203472 PMID:33274538 PMID:33440141 PMID:33571524 PMID:33855944 PMID:34102969 PMID:34220489 PMID:34319632 PMID:34331941 PMID:34366350 PMID:34389718 PMID:34776449 PMID:34901437 PMID:35065037 PMID:35260199 PMID:35278341 PMID:35365805 PMID:35645353 PMID:35949106 PMID:37712079 More...
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NCBI chr14:73,136,417...73,223,691
Ensembl chr14:73,136,418...73,223,691
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G |
APOE |
apolipoprotein E |
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EXP IAGP |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Alzheimer disease 4 | ClinVar Annotator: match by term: Alzheimer disease familial type 4 |
CTD ClinVar |
PMID:2987927 PMID:3353383 PMID:3922972 PMID:7263700 PMID:8294487 PMID:8346443 PMID:8350998 PMID:8488843 PMID:8618665 PMID:8644717 PMID:9279208 PMID:9343467 PMID:9360638 PMID:9932938 PMID:10213152 PMID:10213549 PMID:10799751 PMID:11068149 PMID:11835377 PMID:11940689 PMID:11940706 PMID:14741101 PMID:15048896 PMID:15146461 PMID:15184602 PMID:15326261 PMID:15557508 PMID:15668424 PMID:16621646 PMID:18338393 PMID:18979180 PMID:18987351 PMID:19605830 PMID:19846850 PMID:21742527 PMID:22381401 PMID:22949395 PMID:23060451 PMID:23296339 PMID:23571587 PMID:24033266 PMID:24082139 PMID:24126160 PMID:24644280 PMID:25741868 PMID:26802169 PMID:27260402 PMID:28492532 PMID:29842932 PMID:32058863 PMID:32376954 PMID:32808727 PMID:35120450 PMID:35628605 PMID:35639372 More...
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NCBI chr19:44,905,796...44,909,393
Ensembl chr19:44,905,791...44,909,393
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G |
LOC129388763 |
MPRA-validated peak736 silencer |
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IAGP |
ClinVar Annotator: match by term: Alzheimer disease 4 |
ClinVar |
PMID:18834536 PMID:20375137 PMID:24704512 PMID:28492532 |
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NCBI chr 1:226,882,154...226,882,354
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G |
LOC129932678 |
ATAC-STARR-seq lymphoblastoid silent region 1893 |
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IAGP |
ClinVar Annotator: match by term: Alzheimer disease 4 |
ClinVar |
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NCBI chr 1:226,870,419...226,871,018
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G |
LOC129932680 |
ATAC-STARR-seq lymphoblastoid active region 2673 |
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IAGP |
ClinVar Annotator: match by term: Alzheimer disease 4 |
ClinVar |
PMID:18834536 PMID:20375137 PMID:24704512 PMID:28492532 |
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NCBI chr 1:226,882,874...226,883,033
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G |
PSEN1 |
presenilin 1 |
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IAGP |
ClinVar Annotator: match by term: Alzheimer disease 4 |
ClinVar |
PMID:8910898 PMID:9189043 PMID:9437013 PMID:9804121 PMID:10468510 PMID:11395394 PMID:12552037 PMID:14743455 PMID:15205973 PMID:16267640 PMID:17188713 PMID:20301414 PMID:23539189 PMID:25108559 PMID:26410308 PMID:26467025 PMID:27014028 PMID:27777022 PMID:27930341 PMID:28350801 PMID:28492532 PMID:29494861 PMID:29661148 PMID:30045758 PMID:30528841 PMID:30598257 PMID:31109937 PMID:32917274 PMID:34389718 More...
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NCBI chr14:73,136,417...73,223,691
Ensembl chr14:73,136,418...73,223,691
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G |
PSEN2 |
presenilin 2 |
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IAGP EXP |
ClinVar Annotator: match by term: Alzheimer disease 4 ClinVar Annotator: match by term: Alzheimer disease familial type 4 ClinVar Annotator: match by term: Alzheimer disease 4 | ClinVar Annotator: match by term: Alzheimer disease familial type 4 CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM |
PMID:7638622 PMID:7651536 PMID:8661049 PMID:8939861 PMID:8986743 PMID:9050898 PMID:9384602 PMID:9450781 PMID:9536098 PMID:9813158 PMID:10631141 PMID:10732806 PMID:10846187 PMID:11193137 PMID:11723295 PMID:12549925 PMID:12925374 PMID:14623725 PMID:14769392 PMID:15055444 PMID:15130954 PMID:15258222 PMID:15663477 PMID:15776278 PMID:16155344 PMID:16199547 PMID:16474849 PMID:16533963 PMID:16959576 PMID:17186461 PMID:17345043 PMID:17576681 PMID:17914065 PMID:18350357 PMID:18667258 PMID:18727676 PMID:18833506 PMID:18834536 PMID:19073399 PMID:19659892 PMID:19768372 PMID:20194882 PMID:20301414 PMID:20333730 PMID:20375137 PMID:20420489 PMID:20457965 PMID:20458010 PMID:20634584 PMID:21234330 PMID:21409510 PMID:21483645 PMID:21544564 PMID:21559247 PMID:21959359 PMID:22115042 PMID:22118943 PMID:22221884 PMID:22249458 PMID:22312439 PMID:22412221 PMID:22475797 PMID:22503161 PMID:22505025 PMID:22753229 PMID:22805202 PMID:22834455 PMID:23365231 PMID:23383383 PMID:23558482 PMID:23861362 PMID:23990795 PMID:24093083 PMID:24559647 PMID:24594196 PMID:24669286 PMID:24704512 PMID:24754482 PMID:24844686 PMID:24880964 PMID:24928124 PMID:25104557 PMID:25323700 PMID:25604855 PMID:25741868 PMID:25937274 PMID:26159191 PMID:26166204 PMID:26220970 PMID:26242991 PMID:26410308 PMID:26467025 PMID:26507310 PMID:26522186 PMID:26836416 PMID:26899768 PMID:27128372 PMID:27293189 PMID:27883225 PMID:28008242 PMID:28166811 PMID:28191889 PMID:28243073 PMID:28350801 PMID:28492532 PMID:28985224 PMID:29692703 PMID:30021643 PMID:30045758 PMID:30279455 PMID:30412492 PMID:30598257 PMID:30636737 PMID:30822634 PMID:30822648 PMID:30954774 PMID:31020001 PMID:31914229 PMID:32032730 PMID:32087291 PMID:32317127 PMID:32345996 PMID:32917274 PMID:33061333 PMID:34102969 PMID:35328387 PMID:35418126 PMID:35491795 More...
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NCBI chr 1:226,870,616...226,903,668
Ensembl chr 1:226,870,184...226,927,726
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G |
SORCS1 |
sortilin related VPS10 domain containing receptor 1 |
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IAGP |
ClinVar Annotator: match by term: Alzheimer disease 6 |
ClinVar |
PMID:19241460 PMID:21280075 PMID:25741868 |
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NCBI chr10:106,573,663...107,181,138
Ensembl chr10:106,573,663...107,164,706
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G |
ABCA7 |
ATP binding cassette subfamily A member 7 |
susceptibility |
IAGP EXP |
ClinVar Annotator: match by term: Alzheimer disease 9 ClinVar Annotator: match by term: ALZHEIMER DISEASE 9, LATE-ONSET CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:25741868 PMID:25807283 PMID:26141617 PMID:27066581 PMID:28492532 PMID:28789839 More...
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NCBI chr19:1,040,107...1,065,572
Ensembl chr19:1,039,997...1,065,572
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G |
LOC130062871 |
ATAC-STARR-seq lymphoblastoid silent region 9656 |
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IAGP |
ClinVar Annotator: match by term: Alzheimer disease 9 |
ClinVar |
PMID:25741868 |
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NCBI chr19:1,065,087...1,065,136
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G |
SORL1 |
sortilin related receptor 1 |
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IAGP |
ClinVar Annotator: match by term: Alzheimer disease 9 |
ClinVar |
PMID:28789839 |
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NCBI chr11:121,452,314...121,633,763
Ensembl chr11:121,452,314...121,633,763
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G |
APP |
amyloid beta precursor protein |
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IAGP |
ClinVar Annotator: match by term: Alzheimer disease, early-onset, with cerebral amyloid angiopathy |
ClinVar |
PMID:16369530 PMID:19047566 |
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NCBI chr21:25,880,550...26,171,128
Ensembl chr21:25,880,535...26,171,128
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G |
APP-DT |
APP divergent transcript |
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IAGP |
ClinVar Annotator: match by term: Alzheimer disease, early-onset, with cerebral amyloid angiopathy |
ClinVar |
PMID:16369530 PMID:19047566 |
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NCBI chr21:26,170,867...26,217,384
Ensembl chr21:26,170,871...26,217,381
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G |
ATP5PF |
ATP synthase peripheral stalk subunit F6 |
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IAGP |
ClinVar Annotator: match by term: Alzheimer disease, early-onset, with cerebral amyloid angiopathy |
ClinVar |
PMID:16369530 PMID:19047566 |
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NCBI chr21:25,724,500...25,735,653
Ensembl chr21:25,716,503...25,735,673
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G |
CYYR1 |
cysteine and tyrosine rich 1 |
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IAGP |
ClinVar Annotator: match by term: Alzheimer disease, early-onset, with cerebral amyloid angiopathy |
ClinVar |
PMID:16369530 PMID:19047566 |
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NCBI chr21:26,466,216...26,573,286
Ensembl chr21:26,466,209...26,573,286
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G |
CYYR1-AS1 |
CYYR1 antisense RNA 1 |
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IAGP |
ClinVar Annotator: match by term: Alzheimer disease, early-onset, with cerebral amyloid angiopathy |
ClinVar |
PMID:16369530 PMID:19047566 |
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NCBI chr21:26,393,635...26,569,252
Ensembl chr21:26,393,635...26,569,252
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G |
GABPA |
GA binding protein transcription factor subunit alpha |
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IAGP |
ClinVar Annotator: match by term: Alzheimer disease, early-onset, with cerebral amyloid angiopathy |
ClinVar |
PMID:16369530 PMID:19047566 |
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NCBI chr21:25,734,972...25,772,460
Ensembl chr21:25,734,570...25,772,460
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G |
JAM2 |
junctional adhesion molecule 2 |
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IAGP |
ClinVar Annotator: match by term: Alzheimer disease, early-onset, with cerebral amyloid angiopathy |
ClinVar |
PMID:16369530 PMID:19047566 |
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NCBI chr21:25,639,258...25,717,562
Ensembl chr21:25,639,258...25,717,562
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G |
LINC00158 |
long intergenic non-protein coding RNA 158 |
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IAGP |
ClinVar Annotator: match by term: Alzheimer disease, early-onset, with cerebral amyloid angiopathy |
ClinVar |
PMID:16369530 PMID:19047566 |
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NCBI chr21:25,385,820...25,431,701
Ensembl chr21:25,385,388...25,431,701
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G |
LINC00515 |
long intergenic non-protein coding RNA 515 |
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IAGP |
ClinVar Annotator: match by term: Alzheimer disease, early-onset, with cerebral amyloid angiopathy |
ClinVar |
PMID:16369530 PMID:19047566 |
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NCBI chr21:25,582,775...25,583,224
Ensembl chr21:25,582,770...25,583,326
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G |
LOC105372753 |
uncharacterized LOC105372753 |
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IAGP |
ClinVar Annotator: match by term: Alzheimer disease, early-onset, with cerebral amyloid angiopathy |
ClinVar |
PMID:16369530 PMID:19047566 |
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NCBI chr21:25,446,497...25,518,848
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G |
LOC126653329 |
P300/CBP strongly-dependent group 1 enhancer GRCh37_chr21:26829184-26830383 |
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IAGP |
ClinVar Annotator: match by term: Alzheimer disease, early-onset, with cerebral amyloid angiopathy |
ClinVar |
PMID:16369530 PMID:19047566 |
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NCBI chr21:25,456,872...25,458,071
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G |
LOC126653330 |
CDK7 strongly-dependent group 2 enhancer GRCh37_chr21:27326978-27328177 |
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IAGP |
ClinVar Annotator: match by term: Alzheimer disease, early-onset, with cerebral amyloid angiopathy |
ClinVar |
PMID:16369530 PMID:19047566 |
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NCBI chr21:25,954,664...25,955,863
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G |
LOC126653331 |
BRD4-independent group 4 enhancer GRCh37_chr21:27511930-27513129 |
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IAGP |
ClinVar Annotator: match by term: Alzheimer disease, early-onset, with cerebral amyloid angiopathy |
ClinVar |
PMID:16369530 PMID:19047566 |
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NCBI chr21:26,139,612...26,140,811
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G |
LOC126653332 |
MED14-independent group 3 enhancer GRCh37_chr21:27761856-27763055 |
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IAGP |
ClinVar Annotator: match by term: Alzheimer disease, early-onset, with cerebral amyloid angiopathy |
ClinVar |
PMID:16369530 PMID:19047566 |
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NCBI chr21:26,389,537...26,390,736
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G |
LOC126653333 |
MED14-independent group 3 enhancer GRCh37_chr21:27813209-27814408 |
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IAGP |
ClinVar Annotator: match by term: Alzheimer disease, early-onset, with cerebral amyloid angiopathy |
ClinVar |
PMID:16369530 PMID:19047566 |
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NCBI chr21:26,440,890...26,442,089
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G |
LOC130066477 |
ATAC-STARR-seq lymphoblastoid silent region 13224 |
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IAGP |
ClinVar Annotator: match by term: Alzheimer disease, early-onset, with cerebral amyloid angiopathy |
ClinVar |
PMID:16369530 PMID:19047566 |
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NCBI chr21:25,458,192...25,458,321
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G |
LOC130066478 |
ATAC-STARR-seq lymphoblastoid active region 18306 |
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IAGP |
ClinVar Annotator: match by term: Alzheimer disease, early-onset, with cerebral amyloid angiopathy |
ClinVar |
PMID:16369530 PMID:19047566 |
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NCBI chr21:25,495,184...25,495,273
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G |
LOC130066479 |
ATAC-STARR-seq lymphoblastoid active region 18307 |
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IAGP |
ClinVar Annotator: match by term: Alzheimer disease, early-onset, with cerebral amyloid angiopathy |
ClinVar |
PMID:16369530 PMID:19047566 |
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NCBI chr21:25,551,591...25,551,650
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G |
LOC130066480 |
ATAC-STARR-seq lymphoblastoid active region 18308 |
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IAGP |
ClinVar Annotator: match by term: Alzheimer disease, early-onset, with cerebral amyloid angiopathy |
ClinVar |
PMID:16369530 PMID:19047566 |
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NCBI chr21:25,561,680...25,561,729
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G |
LOC130066481 |
ATAC-STARR-seq lymphoblastoid silent region 13225 |
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IAGP |
ClinVar Annotator: match by term: Alzheimer disease, early-onset, with cerebral amyloid angiopathy |
ClinVar |
PMID:16369530 PMID:19047566 |
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NCBI chr21:25,562,110...25,562,199
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G |
LOC130066482 |
ATAC-STARR-seq lymphoblastoid silent region 13226 |
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IAGP |
ClinVar Annotator: match by term: Alzheimer disease, early-onset, with cerebral amyloid angiopathy |
ClinVar |
PMID:16369530 PMID:19047566 |
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NCBI chr21:25,562,210...25,562,489
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G |
LOC130066483 |
ATAC-STARR-seq lymphoblastoid active region 18309 |
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IAGP |
ClinVar Annotator: match by term: Alzheimer disease, early-onset, with cerebral amyloid angiopathy |
ClinVar |
PMID:16369530 PMID:19047566 |
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NCBI chr21:25,564,872...25,564,951
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G |
LOC130066484 |
ATAC-STARR-seq lymphoblastoid silent region 13227 |
|
IAGP |
ClinVar Annotator: match by term: Alzheimer disease, early-onset, with cerebral amyloid angiopathy |
ClinVar |
PMID:16369530 PMID:19047566 |
|
NCBI chr21:25,565,410...25,565,469
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|
G |
LOC130066485 |
ATAC-STARR-seq lymphoblastoid silent region 13228 |
|
IAGP |
ClinVar Annotator: match by term: Alzheimer disease, early-onset, with cerebral amyloid angiopathy |
ClinVar |
PMID:16369530 PMID:19047566 |
|
NCBI chr21:25,569,215...25,569,264
|
|
G |
LOC130066486 |
ATAC-STARR-seq lymphoblastoid silent region 13229 |
|
IAGP |
ClinVar Annotator: match by term: Alzheimer disease, early-onset, with cerebral amyloid angiopathy |
ClinVar |
PMID:16369530 PMID:19047566 |
|
NCBI chr21:25,573,924...25,574,103
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|
G |
LOC130066487 |
ATAC-STARR-seq lymphoblastoid active region 18310 |
|
IAGP |
ClinVar Annotator: match by term: Alzheimer disease, early-onset, with cerebral amyloid angiopathy |
ClinVar |
PMID:16369530 PMID:19047566 |
|
NCBI chr21:25,575,655...25,575,804
|
|
G |
LOC130066488 |
ATAC-STARR-seq lymphoblastoid active region 18311 |
|
IAGP |
ClinVar Annotator: match by term: Alzheimer disease, early-onset, with cerebral amyloid angiopathy |
ClinVar |
PMID:16369530 PMID:19047566 |
|
NCBI chr21:25,576,197...25,576,246
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|
G |
LOC130066489 |
ATAC-STARR-seq lymphoblastoid active region 18312 |
|
IAGP |
ClinVar Annotator: match by term: Alzheimer disease, early-onset, with cerebral amyloid angiopathy |
ClinVar |
PMID:16369530 PMID:19047566 |
|
NCBI chr21:25,578,707...25,578,776
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|
G |
LOC130066490 |
ATAC-STARR-seq lymphoblastoid active region 18313 |
|
IAGP |
ClinVar Annotator: match by term: Alzheimer disease, early-onset, with cerebral amyloid angiopathy |
ClinVar |
PMID:16369530 PMID:19047566 |
|
NCBI chr21:25,580,603...25,580,662
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|
G |
LOC130066491 |
ATAC-STARR-seq lymphoblastoid active region 18314 |
|
IAGP |
ClinVar Annotator: match by term: Alzheimer disease, early-onset, with cerebral amyloid angiopathy |
ClinVar |
PMID:16369530 PMID:19047566 |
|
NCBI chr21:25,607,426...25,607,545
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|
G |
LOC130066492 |
ATAC-STARR-seq lymphoblastoid silent region 13230 |
|
IAGP |
ClinVar Annotator: match by term: Alzheimer disease, early-onset, with cerebral amyloid angiopathy |
ClinVar |
PMID:16369530 PMID:19047566 |
|
NCBI chr21:25,608,526...25,608,585
|
|
G |
LOC130066493 |
ATAC-STARR-seq lymphoblastoid active region 18315 |
|
IAGP |
ClinVar Annotator: match by term: Alzheimer disease, early-onset, with cerebral amyloid angiopathy |
ClinVar |
PMID:16369530 PMID:19047566 |
|
NCBI chr21:25,638,891...25,639,030
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| |