RGD DISEASE ONTOLOGY - ANNOTATIONS
RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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Agt
angiotensinogen
ISO
associated with Premature Birth;DNA:polymorphism:promoter:-6G>A (human)
RGD
PMID:19733287
RGD:11039046
NCBI chr19:57,321,594...57,333,460
Ensembl chr19:57,321,640...57,333,433
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Apob
apolipoprotein B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31186542
NCBI chr 6:33,176,826...33,216,381
Ensembl chr 6:33,176,778...33,224,997
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Avpr1a
arginine vasopressin receptor 1A
IMP
associated with Hypertension, Portal
RGD
PMID:14647048
RGD:2300333
NCBI chr 7:67,341,366...67,345,290
Ensembl chr 7:67,341,080...67,345,308
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Bdkrb2
bradykinin receptor B2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16514058
NCBI chr 6:129,399,468...129,429,676
Ensembl chr 6:129,399,468...129,429,676
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Bnip3
BCL2 interacting protein 3
IEP
protein:increased expression:heart left ventricle
RGD
PMID:21193900
RGD:11564331
NCBI chr 1:211,248,098...211,265,282
Ensembl chr 1:211,248,098...211,265,282
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Cav1
caveolin 1
IEP
protein:decreased expression:myocardium
RGD
PMID:22954805
RGD:8661809
NCBI chr 4:44,597,123...44,630,206
Ensembl chr 4:44,597,123...44,630,200
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Cryab
crystallin, alpha B
IEP
associated with Wounds and Injuries;protein:decreased phosphorylation:heart
RGD
PMID:17293487
RGD:2303639
NCBI chr 8:55,178,543...55,182,546
Ensembl chr 8:55,178,289...55,182,545
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Cxcl1
C-X-C motif chemokine ligand 1
IEP
associated with Wounds, Penetrating
RGD
PMID:20117814
RGD:5135001
NCBI chr14:18,743,678...18,745,457
Ensembl chr14:18,743,685...18,745,457
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Cxcl2
C-X-C motif chemokine ligand 2
IEP
associated with Wounds, Penetrating
RGD
PMID:18434445
RGD:5135230
NCBI chr14:18,731,346...18,733,391
Ensembl chr14:18,731,378...18,733,391
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Entpd1
ectonucleoside triphosphate diphosphohydrolase 1
ISO
RGD
PMID:10470077
RGD:735004
NCBI chr 1:259,692,020...259,818,922
Ensembl chr 1:259,739,955...259,819,494
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Epha7
Eph receptor A7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30357299
NCBI chr 5:43,602,744...43,761,198
Ensembl chr 5:43,603,043...43,757,549
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F10
coagulation factor X
ISO
RGD
PMID:8073392
RGD:11041766
NCBI chr16:81,803,169...81,822,476
Ensembl chr16:81,803,110...81,822,716
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F13a1
coagulation factor XIII A1 chain
ISO
RGD
PMID:12529747
RGD:11041809
NCBI chr17:28,504,650...28,680,015
Ensembl chr17:28,504,623...28,680,362
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F2
coagulation factor II
ISO IDA IMP
CTD Direct Evidence: marker/mechanism associated with Wounds and Injuries
CTD
PMID:7740448 , PMID:9636195 , PMID:23481505 , PMID:20664909
RGD:734956 , RGD:10449433 , RGD:10449431
NCBI chr 3:80,529,468...80,542,993
Ensembl chr 3:80,529,428...80,543,031
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F3
coagulation factor III, tissue factor
ISO
RGD
PMID:8692802
RGD:11341698
NCBI chr 2:225,310,686...225,322,281
Ensembl chr 2:225,310,624...225,322,272
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F7
coagulation factor VII
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:12707733 PMID:12851533 PMID:16553518
NCBI chr16:81,824,610...81,834,923
Ensembl chr16:81,824,111...81,834,945
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F8
coagulation factor VIII
treatment
ISO
RGD
PMID:24931420
RGD:11530071
NCBI chr18:367,862...399,242
Ensembl chr18:367,862...399,242
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Fermt3
FERM domain containing kindlin 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18278053
NCBI chr 1:222,254,183...222,272,775
Ensembl chr 1:222,254,184...222,272,285
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Fos
Fos proto-oncogene, AP-1 transcription factor subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:7844257
NCBI chr 6:109,300,433...109,303,299
Ensembl chr 6:109,300,433...109,303,299
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Gata2
GATA binding protein 2
ISO
RGD
PMID:22996665
RGD:11049511
NCBI chr 4:120,129,028...120,142,490
Ensembl chr 4:120,133,713...120,142,488
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Gata4
GATA binding protein 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31190750
NCBI chr15:46,386,703...46,458,679
Ensembl chr15:46,386,712...46,432,965
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Gata6
GATA binding protein 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31190750
NCBI chr18:2,415,821...2,447,087
Ensembl chr18:2,416,552...2,446,338
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Hspd1
heat shock protein family D (Hsp60) member 1
IEP
associated with Wounds and Injuries;mRNA, protein:decreased expression:heart
RGD
PMID:16288780
RGD:1624234
NCBI chr 9:61,680,529...61,691,202
Ensembl chr 9:61,680,530...61,690,956
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Il11
interleukin 11
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:17980069
NCBI chr 1:72,636,959...72,643,255
Ensembl chr 1:72,635,267...72,643,255
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Il1a
interleukin 1 alpha
IEP
RGD
PMID:9326742
RGD:11059516
NCBI chr 3:121,824,712...121,836,122
Ensembl chr 3:121,825,412...121,836,086
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Itgb3
integrin subunit beta 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16153930
NCBI chr10:92,667,869...92,783,413
Ensembl chr10:92,667,869...92,783,410
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Nqo1
NAD(P)H quinone dehydrogenase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27581200
NCBI chr19:38,422,210...38,437,103
Ensembl chr19:38,422,164...38,437,180
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P2ry12
purinergic receptor P2Y12
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11196645
NCBI chr 2:149,440,807...149,482,592
Ensembl chr 2:149,441,598...149,444,548
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Plat
plasminogen activator, tissue type
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:2514002 PMID:8082347 PMID:8427107 PMID:9199818 PMID:9266785 PMID:15016487 PMID:15502123 PMID:22507835
NCBI chr16:74,098,263...74,122,897
Ensembl chr16:74,098,260...74,122,889
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Plau
plasminogen activator, urokinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8225663 PMID:9266785 PMID:15502123 PMID:15557913
NCBI chr15:3,644,296...3,650,765
Ensembl chr15:3,644,769...3,650,819
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Podxl
podocalyxin-like
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22016802
NCBI chr 4:58,829,049...58,893,353
Ensembl chr 4:58,829,060...58,893,170
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Pomc
proopiomelanocortin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:1267567 PMID:3014908
NCBI chr 6:28,382,937...28,388,771
Ensembl chr 6:28,382,962...28,388,967
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Ren
renin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:6991409
NCBI chr13:50,502,724...50,513,953
Ensembl chr13:50,502,724...50,514,151
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Serpina1
serpin family A member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:412531
NCBI chr 6:127,610,241...127,632,265
Ensembl chr 6:127,610,243...127,632,265
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Serpine1
serpin family E member 1
treatment
IEP IDA
protein:increased expression:plasma (rat)
RGD
PMID:26970714 , PMID:9263399
RGD:11073619 , RGD:11080960
NCBI chr12:22,641,104...22,651,482
Ensembl chr12:22,641,104...22,651,482
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Serpinf2
serpin family F member 2
ISO
DNA:missense mutation:cds:p.V384M (human)
RGD
PMID:10583218
RGD:1580303
NCBI chr10:62,264,247...62,272,353
Ensembl chr10:62,264,788...62,273,119
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Stxbp2
syntaxin binding protein 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30696774
NCBI chr12:2,180,101...2,191,863
Ensembl chr12:2,180,150...2,191,175
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Tnfrsf8
TNF receptor superfamily member 8
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:29984229
NCBI chr 5:163,186,349...163,231,578
Ensembl chr 5:163,186,349...163,231,578
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Vegfa
vascular endothelial growth factor A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31068094
NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
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Vkorc1
vitamin K epoxide reductase complex, subunit 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20597268 PMID:26445138
NCBI chr 1:199,338,785...199,341,306
Ensembl chr 1:199,337,138...199,341,302
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App
amyloid beta precursor protein
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Cerebral amyloid angiopathy, APP-related ClinVar Annotator: match by term: CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, PIEDMONT VARIANT
CTD ClinVar OMIM
PMID:1303239 PMID:1679289 PMID:2111584 PMID:9754958 PMID:9848098 PMID:10821838 PMID:11311152 PMID:11409420 PMID:11441013 PMID:11528419 PMID:12654973 PMID:15502844 PMID:16178030 PMID:18413473 PMID:19225789 PMID:20228223 PMID:20697050 PMID:24878480 PMID:25741868 PMID:26104569 PMID:26402770 PMID:27000221 PMID:27858710 PMID:28350801 PMID:28492532
NCBI chr11:24,425,013...24,641,872
Ensembl chr11:24,425,005...24,641,858
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Adamts13
ADAM metallopeptidase with thrombospondin type 1 motif, 13
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19260037
NCBI chr 3:5,519,921...5,558,390
Ensembl chr 3:5,519,990...5,558,166
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Alb
albumin
ISO
RGD
PMID:6683982
RGD:11036083
NCBI chr14:19,176,275...19,191,793
Ensembl chr14:19,176,277...19,191,863
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Cd40
CD40 molecule
ISO
protein:increased expression:peripheral blood, B lymphocyte (human)
RGD
PMID:17654056
RGD:11344977
NCBI chr 3:161,519,789...161,534,943
Ensembl chr 3:161,519,743...161,534,704
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Cd40lg
CD40 ligand
treatment
ISO
protein:increased expression:peripheral blood, T lymphocyte (human) protein:decreased expression:serum (mouse)
RGD
PMID:17654056 , PMID:22537155 , PMID:18341638 , PMID:16188945
RGD:11344977 , RGD:11352267 , RGD:11352237 , RGD:11344980
NCBI chr X:159,703,703...159,714,886
Ensembl chr X:159,703,578...159,716,562
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Cd86
CD86 molecule
treatment
ISO
protein:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:19379594 , PMID:20581660
RGD:11354966 , RGD:11520785
NCBI chr11:67,060,305...67,117,990
Ensembl chr11:67,082,193...67,118,795
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Dnmt3a
DNA methyltransferase 3 alpha
ISO
mRNA:decreased expression:mononuclear cell
RGD
PMID:18683034
RGD:9588662
NCBI chr 6:28,205,375...28,346,052
Ensembl chr 6:28,235,695...28,340,577
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Dnmt3b
DNA methyltransferase 3 beta
susceptibility
ISO
mRNA:decreased expression:mononuclear cell DNA:SNP:promoter: -579G>T(human)
RGD
PMID:18683034 , PMID:23000068
RGD:9588662 , RGD:9589094
NCBI chr 3:149,131,541...149,170,061
Ensembl chr 3:149,131,785...149,208,786
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Fas
Fas cell surface death receptor
ISO
protein:increased expression:serum:
RGD
PMID:10776692
RGD:11049162
NCBI chr 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790
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Fcgr2a
Fc fragment of IgG receptor IIa
no_association susceptibility treatment
ISO
DNA:SNP:cds:p.R131H (human)
RGD
PMID:20699442 , PMID:23249566 , PMID:22123287 , PMID:21131591
RGD:11040883 , RGD:11040990 , RGD:11040989 , RGD:11040933
NCBI chr13:91,146,878...91,163,691
Ensembl chr13:91,168,973...91,198,036 Ensembl chr13:91,168,973...91,198,036
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Fcgr2b
Fc fragment of IgG receptor IIb
treatment disease_progression
ISO
DNA:SNP: :p.I232T (human)
RGD
PMID:21131591 , PMID:21045192 , PMID:22257295 , PMID:15566359 , PMID:19549396
RGD:11040933 , RGD:11344955 , RGD:11344931 , RGD:11344928 , RGD:11344927
NCBI chr13:89,329,298...89,343,916
Ensembl chr13:89,327,794...89,433,815
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Fcgr3a
Fc fragment of IgG receptor IIIa
treatment susceptibility
ISO
DNA:SNP:cds:p.V158F(human) DNA:SNP:exon:p.F158V (rs396991) (human)
RGD
PMID:11380443 , PMID:23484707 , PMID:22123287 , PMID:15479722
RGD:11040776 , RGD:11352255 , RGD:11040989 , RGD:11344926
NCBI chr13:89,385,775...89,396,047
Ensembl chr13:89,385,859...89,396,051
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Gp1ba
glycoprotein Ib platelet subunit alpha
ISO
RGD
PMID:16861348
RGD:10450841
NCBI chr10:57,260,680...57,263,546
Ensembl chr10:57,260,680...57,263,546
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Il10
interleukin 10
disease_progression
ISO
DNA:SNP:promoter:-627C>A (human) DNA:SNPs, haplotypes:promoter:-1082A>G, -819C>T, -592C>A (human)
RGD
PMID:25051072 , PMID:22677268
RGD:11041894 , RGD:11046267
NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
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Il18
interleukin 18
ISO
protein:increased expression:plasma:
RGD
PMID:24801815
RGD:11073600
NCBI chr 8:55,009,666...55,016,286
Ensembl chr 8:54,993,859...55,016,299
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Il1a
interleukin 1 alpha
ISO
DNA:SNP:promoter:-899C>T (human)
RGD
PMID:21591983
RGD:11051966
NCBI chr 3:121,824,712...121,836,122
Ensembl chr 3:121,825,412...121,836,086
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Il1rn
interleukin 1 receptor antagonist
susceptibility
ISO
DNA:repeats::
RGD
PMID:20626741
RGD:11528541
NCBI chr 3:1,449,778...1,468,624
Ensembl chr 3:1,452,644...1,468,614
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Il2
interleukin 2
susceptibility
ISO
DNA:polymorphism::-330T>G(human)
RGD
PMID:20626741
RGD:11528541
NCBI chr 2:123,847,150...123,851,854
Ensembl chr 2:123,847,150...123,851,854
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Il4
interleukin 4
disease_progression
ISO
DNA:repeat:intron
RGD
PMID:25051072
RGD:11041894
NCBI chr10:38,963,979...38,969,531
Ensembl chr10:38,963,979...38,969,531
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Itgb3
integrin subunit beta 3
ISO
RGD
PMID:10936026 , PMID:24258817
RGD:10755473 , RGD:10755475
NCBI chr10:92,667,869...92,783,413
Ensembl chr10:92,667,869...92,783,410
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Mir130a
microRNA 130a
ISO
RNA:decreased expression:PBMC
RGD
PMID:24801815
RGD:11073600
NCBI chr 3:72,141,037...72,141,124
Ensembl chr 3:72,141,037...72,141,124
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Mir3581
microRNA 3581
treatment
ISO
RGD
PMID:23360331
RGD:10755694
NCBI chr 6:133,893,418...133,893,497
Ensembl chr 6:133,893,418...133,893,497
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Mir409
microRNA 409
treatment
ISO
RGD
PMID:23360331
RGD:10755694
NCBI chr 6:133,893,419...133,893,495
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Plat
plasminogen activator, tissue type
ISO
protein:increased expression:plasma (human)
RGD
PMID:2129164
RGD:11541072
NCBI chr16:74,098,263...74,122,897
Ensembl chr16:74,098,260...74,122,889
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Ptpn22
protein tyrosine phosphatase, non-receptor type 22
no_association
ISO
DNA: snp: cds: C1858T DNA:snp:cds:c.1858C>T (rs2476601) (human)
RGD
PMID:21597364 , PMID:27309885
RGD:6484673 , RGD:11535019
NCBI chr 2:206,342,066...206,390,348
Ensembl chr 2:206,342,066...206,390,348
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RT1-Bb
RT1 class II, locus Bb
treatment
ISO
DNA:polymorphisms:cds:HLA-DQB1*0401 (human)
RGD
PMID:10435723
RGD:11041758
NCBI chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
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RT1-Db1
RT1 class II, locus Db1
treatment
ISO
DNA:polymorphisms:cds:HLA-DRB1*0901, HLA-DRB1*0410 (human)
RGD
PMID:10435723
RGD:11041758
NCBI chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
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Socs1
suppressor of cytokine signaling 1
ISO
ClinVar Annotator: match by term: Autoimmune thrombocytopenia
ClinVar
NCBI chr10:4,956,795...4,958,472
Ensembl chr10:4,957,326...4,958,461
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Tgfb1
transforming growth factor, beta 1
disease_progression
ISO
mRNA:increased expression: : protein:decreased expression:plasma:
RGD
PMID:11886393 , PMID:24763013 , PMID:24801815
RGD:11073598 , RGD:11073603 , RGD:11073600
NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
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Col4a3
collagen type IV alpha 3 chain
ISO
ClinVar Annotator: match by term: Benign familial hematuria ClinVar Annotator: match by OMIM:141200
ClinVar OMIM
PMID:11961012 PMID:25307543 PMID:25741868 , PMID:19357112
RGD:7242047
NCBI chr 9:88,357,528...88,484,735
Ensembl chr 9:88,357,556...88,485,830
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Col4a4
collagen type IV alpha 4 chain
ISO
ClinVar Annotator: match by term: Benign familial hematuria ClinVar Annotator: match by synonym: THIN MEMBRANE NEPHROPATHY
ClinVar OMIM
PMID:8787673 PMID:9792860 PMID:11961012 PMID:12325029 PMID:14582039 PMID:16338941 PMID:17216251 PMID:24052634 PMID:25525159 PMID:25741868 PMID:26467025 PMID:26809805 PMID:28492532 , PMID:19357112
RGD:7242047
NCBI chr 9:88,314,763...88,357,183
Ensembl chr 9:88,232,455...88,357,182
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Col4a5
collagen type IV alpha 5 chain
ISO
ClinVar Annotator: match by term: Familial hematuria
ClinVar
NCBI chr X:112,769,595...112,983,720
Ensembl chr X:112,769,645...112,983,685
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Lama5
laminin subunit alpha 5
ISO
ClinVar Annotator: match by term: Familial hematuria
ClinVar
NCBI chr 3:175,553,042...175,601,112
Ensembl chr 3:175,553,045...175,601,127
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Ace
angiotensin I converting enzyme
susceptibility
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Stroke, hemorrhagic, susceptibility to
CTD OMIM ClinVar
PMID:1313972 PMID:1319114 PMID:1328889 PMID:1386652 PMID:1976655 PMID:2847529 PMID:2849100 PMID:7593601 PMID:7729604 PMID:7854377 PMID:7909524 PMID:8131299 PMID:8131300 PMID:8136829 PMID:8170965 PMID:8208911 PMID:8298638 PMID:8314010 PMID:8541160 PMID:8644984 PMID:8675669 PMID:9120002 PMID:9236417 PMID:9259580 PMID:9699903 PMID:9737775 PMID:9916793 PMID:10099885 PMID:10636736 PMID:10643899 PMID:10841123 PMID:11687636 PMID:11956052 PMID:12220450 PMID:12666117 PMID:14657821 PMID:14872014 PMID:15110771 PMID:15277638 PMID:15381116 PMID:15531537 PMID:15534175 PMID:15635071 PMID:19221299
NCBI chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
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Anxa1
annexin A1
IEP
mRNA:increased expression:brain
RGD
PMID:16034371
RGD:2306905
NCBI chr 1:237,893,983...237,910,002
Ensembl chr 1:237,893,966...237,910,012
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Apex1
apurinic/apyrimidinic endodeoxyribonuclease 1
IEP
RGD
PMID:15344903
RGD:2315676
NCBI chr15:27,849,943...27,852,083
Ensembl chr15:27,849,979...27,852,082
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Apoe
apolipoprotein E
ISO
DNA:missense mutations, haplotype:cds:p.C112R (rs7412) (human)
RGD
PMID:19251191
RGD:6904207
NCBI chr 1:80,612,894...80,616,820
Ensembl chr 1:80,612,895...80,617,057
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Aqp4
aquaporin 4
IEP
RGD
PMID:25545558
RGD:11541062
NCBI chr18:6,766,009...6,782,757
Ensembl chr18:6,765,945...6,782,996
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Bax
BCL2 associated X, apoptosis regulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12721362
NCBI chr 1:101,451,801...101,457,207
Ensembl chr 1:101,451,802...101,457,207
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Bcl2
BCL2, apoptosis regulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12721362
NCBI chr13:26,605,426...26,769,374
Ensembl chr13:26,605,426...26,769,374
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Bcl2l1
Bcl2-like 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12721362
NCBI chr 3:148,259,594...148,314,191
Ensembl chr 3:148,259,596...148,313,810
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Bdnf
brain-derived neurotrophic factor
ISO
RGD
PMID:20818776
RGD:4891129
NCBI chr 3:100,768,637...100,819,216
Ensembl chr 3:100,768,637...100,819,210
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Becn1
beclin 1
IEP
protein:increased expression:basal ganglion
RGD
PMID:23884876
RGD:11561935
NCBI chr10:89,209,944...89,225,297
Ensembl chr10:89,209,940...89,225,297
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Bnip3l
BCL2 interacting protein 3 like
IEP
RGD
PMID:23771482
RGD:7483577
NCBI chr15:43,643,897...43,667,123
Ensembl chr15:43,643,897...43,667,029
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C3
complement C3
IEP
RGD
PMID:17114852
RGD:5129540
NCBI chr 9:9,721,137...9,747,084
Ensembl chr 9:9,721,105...9,747,167
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Casp12
caspase 12
treatment
IEP
RGD
PMID:28544790
RGD:13782167
NCBI chr 8:2,658,892...2,686,160
Ensembl chr 8:2,659,865...2,686,160
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Casp3
caspase 3
treatment
ISO IEP
CTD Direct Evidence: marker/mechanism
CTD
PMID:17971790 , PMID:28096675
RGD:13782306
NCBI chr16:48,845,011...48,863,249
Ensembl chr16:48,845,012...48,863,204
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Casp8
caspase 8
treatment
ISO IEP
CTD Direct Evidence: marker/mechanism
CTD
PMID:17971790 , PMID:28096675
RGD:13782306
NCBI chr 9:65,614,142...65,662,624
Ensembl chr 9:65,614,142...65,662,106
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Casp9
caspase 9
treatment
IEP
RGD
PMID:28096675
RGD:13782306
NCBI chr 5:160,356,211...160,373,774
Ensembl chr 5:160,355,833...160,373,778
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Cd14
CD14 molecule
IEP
mRNA:increased expression:lung, intestine:
RGD
PMID:19534684
RGD:7185660
NCBI chr18:29,560,341...29,562,290
Ensembl chr18:29,560,365...29,562,153
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Cd36
CD36 molecule
ISO
RGD
PMID:19064796
RGD:6893504
NCBI chr 4:14,150,309...14,191,498
Ensembl chr 4:14,001,761...14,249,749
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Cfh
complement factor H
severity
ISO
RGD
PMID:21871809
RGD:5684553
NCBI chr13:56,979,155...57,080,540
Ensembl chr13:56,978,607...57,080,622
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Cntf
ciliary neurotrophic factor
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:11701153
NCBI chr 1:229,599,009...229,601,032
Ensembl chr 1:229,599,009...229,601,032
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Col4a1
collagen type IV alpha 1 chain
susceptibility
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hemorrhage, intracerebral, susceptibility to
CTD ClinVar OMIM
PMID:16598045 PMID:22522439 PMID:26467025 PMID:28492532 , PMID:16598045
RGD:1581204
NCBI chr16:83,522,162...83,632,153
Ensembl chr16:83,522,162...83,632,153
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Col4a2
collagen type IV alpha 2 chain
susceptibility
ISO
ClinVar Annotator: match by term: Hemorrhage, intracerebral, susceptibility to ClinVar Annotator: match by term: STROKE, HEMORRHAGIC, SUSCEPTIBILITY TO CTD Direct Evidence: marker/mechanism DNA:SNPs::
ClinVar CTD OMIM
PMID:22209247 PMID:22914737 PMID:24390199 PMID:24646874 PMID:25653287 PMID:25741868 PMID:28492532 , PMID:28954878
RGD:13450933
NCBI chr16:83,386,388...83,522,169
Ensembl chr16:83,387,364...83,438,561
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Csf3
colony stimulating factor 3
treatment
ISO
RGD
PMID:19169816
RGD:11039433
NCBI chr10:86,616,785...86,619,160
Ensembl chr10:86,616,785...86,619,157
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Cxcr4
C-X-C motif chemokine receptor 4
treatment
IMP
RGD
PMID:24955809
RGD:11352686
NCBI chr13:45,314,952...45,318,856
Ensembl chr13:45,314,933...45,318,878
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Dag1
dystroglycan 1
IEP
RGD
PMID:25545558
RGD:11541062
NCBI chr 8:116,980,501...116,993,182
Ensembl chr 8:116,980,497...116,993,193
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Dcx
doublecortin
IEP
protein:increased expression:dentate gyrus
RGD
PMID:24144742
RGD:12904766
NCBI chr X:115,098,675...115,175,515
Ensembl chr X:115,098,675...115,175,299
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F11
coagulation factor XI
ISO
ClinVar Annotator: match by term: Cerebral hemorrhage
ClinVar
NCBI chr16:50,179,458...50,201,644
Ensembl chr16:50,179,458...50,201,698
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F13a1
coagulation factor XIII A1 chain
ISO
RGD
PMID:9550516
RGD:1581027
NCBI chr17:28,504,650...28,680,015
Ensembl chr17:28,504,623...28,680,362
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F2
coagulation factor II
severity
ISO
protein:increased expression:plasma
RGD
PMID:21244583
RGD:5147770
NCBI chr 3:80,529,468...80,542,993
Ensembl chr 3:80,529,428...80,543,031
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F7
coagulation factor VII
treatment
ISO
human protein in a rat model CTD Direct Evidence: therapeutic
CTD
PMID:16671457 PMID:21127298 , PMID:16671457
RGD:11049545
NCBI chr16:81,824,610...81,834,923
Ensembl chr16:81,824,111...81,834,945
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Flt1
Fms related receptor tyrosine kinase 1
IEP ISO
mRNA:increased expression:brain: CTD Direct Evidence: marker/mechanism
CTD
PMID:17888890 , PMID:17888890
RGD:10402152
NCBI chr12:9,033,993...9,205,886
Ensembl chr12:9,034,308...9,205,905
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Hmox1
heme oxygenase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12401953
NCBI chr19:14,508,634...14,515,455
Ensembl chr19:14,508,616...14,515,456
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Hmox2
heme oxygenase 2
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:16459095
NCBI chr10:10,990,034...11,035,493
Ensembl chr10:10,990,034...11,035,484
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Hp
haptoglobin
treatment
ISO
RGD
PMID:20016097 , PMID:20016097
RGD:11041810 , RGD:11041810
NCBI chr19:42,096,255...42,100,805
Ensembl chr19:42,097,995...42,100,804
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Il1rn
interleukin 1 receptor antagonist
treatment
IEP ISO
mRNA:increased expression:striatum (rat) human gene in a rat model
RGD
PMID:22707991 , PMID:14753487
RGD:6997504 , RGD:8551833
NCBI chr 3:1,449,778...1,468,624
Ensembl chr 3:1,452,644...1,468,614
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Itga2b
integrin subunit alpha 2b
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9445356
NCBI chr10:90,397,960...90,416,550
Ensembl chr10:90,398,132...90,415,070
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Itgav
integrin subunit alpha V
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9445356 , PMID:16102435
RGD:1582447
NCBI chr 3:71,113,269...71,205,958
Ensembl chr 3:71,114,100...71,202,411
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Itgb2
integrin subunit beta 2
ISO
RGD
PMID:18615643
RGD:6482197
NCBI chr20:11,777,773...11,815,647
Ensembl chr20:11,777,783...11,815,647
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Itgb3
integrin subunit beta 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9445356
NCBI chr10:92,667,869...92,783,413
Ensembl chr10:92,667,869...92,783,410
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Kdr
kinase insert domain receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17888890
NCBI chr14:34,727,677...34,787,127
Ensembl chr14:34,727,623...34,787,183
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LOC299277
similar to serine (or cysteine) peptidase inhibitor, clade A, member 3B
ISO
RGD
PMID:12126519
RGD:1580109
NCBI chr 6:127,871,895...127,888,287
Ensembl chr 6:127,872,666...127,886,540
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Map1lc3a
microtubule-associated protein 1 light chain 3 alpha
IEP
RGD
PMID:23884876
RGD:11561935
NCBI chr 3:150,801,289...150,802,935
Ensembl chr 3:150,801,289...150,802,935
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Mir152
microRNA 152
treatment
IDA
RGD
PMID:31982825
RGD:21066340
NCBI chr10:84,719,319...84,719,403
Ensembl chr10:84,719,319...84,719,403
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Mmp12
matrix metallopeptidase 12
IDA ISO
RGD
PMID:12783419 , PMID:15654856
RGD:1582362 , RGD:1582358
NCBI chr 8:5,594,717...5,616,494
Ensembl chr 8:5,606,592...5,616,493
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Mmp2
matrix metallopeptidase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10698078
NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611
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Mmp3
matrix metallopeptidase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17971790
NCBI chr 8:5,676,608...5,698,579
Ensembl chr 8:5,676,665...5,698,579
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Mmp9
matrix metallopeptidase 9
ISO
CTD Direct Evidence: marker/mechanism|therapeutic
CTD
PMID:14630814 PMID:15488484 PMID:15529013 PMID:16190367 PMID:19095969 , PMID:17021183
RGD:1582637
NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
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Mt1
metallothionein 1
IEP
mRNA:increased expression:cerebral cortex, striatum (rat)
RGD
PMID:16034371
RGD:2306905
NCBI chr19:11,301,991...11,303,007
Ensembl chr17:78,793,336...78,793,724
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Mt2A
metallothionein 2A
IEP
mRNA:increased expression:cerebral cortex, striatum (rat)
RGD
PMID:16034371
RGD:2306905
NCBI chr19:11,307,966...11,308,740
Ensembl chr19:11,307,967...11,308,740
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Mtor
mechanistic target of rapamycin kinase
treatment
IMP
RGD
PMID:24602288
RGD:10041041
NCBI chr 5:165,263,813...165,373,967
Ensembl chr 5:165,263,800...165,373,967
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Nfkb1
nuclear factor kappa B subunit 1
IDA
protein:increased activity:striatum
RGD
PMID:17250675
RGD:2302394
NCBI chr 2:240,773,520...240,890,053
Ensembl chr 2:240,773,456...240,866,689
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Nfkb2
nuclear factor kappa B subunit 2
IDA
protein:increased activity:striatum
RGD
PMID:17250675
RGD:2302394
NCBI chr 1:266,050,634...266,059,277
Ensembl chr 1:266,053,002...266,059,256
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Nfkbia
NFKB inhibitor alpha
IDA
protein:increased phosphorylation:brain
RGD
PMID:20150961
RGD:10413872
NCBI chr 6:76,267,227...76,270,457
Ensembl chr 6:76,267,228...76,270,457
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Nppb
natriuretic peptide B
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:19803787
NCBI chr 5:164,796,176...164,797,538
Ensembl chr 5:164,796,185...164,797,531
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Npy
neuropeptide Y
IEP
protein:increased expression:plasma (rat)
RGD
PMID:15068713
RGD:1580182
NCBI chr 4:79,557,856...79,565,059
Ensembl chr 4:79,557,854...79,565,097
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Nqo1
NAD(P)H quinone dehydrogenase 1
treatment
IEP
RGD
PMID:29050310
RGD:13442476
NCBI chr19:38,422,210...38,437,103
Ensembl chr19:38,422,164...38,437,180
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Plat
plasminogen activator, tissue type
treatment severity
IDA ISO
human protein in a rat model CTD Direct Evidence: marker/mechanism associated with Brain Injuries
CTD
PMID:1430592 PMID:1579960 PMID:1899364 PMID:7477192 PMID:7723950 PMID:8969996 PMID:9836764 PMID:10501537 PMID:11113218 PMID:11940547 PMID:14630814 PMID:16126134 PMID:16190367 PMID:16908730 PMID:17690543 PMID:18346647 PMID:18369171 PMID:18753474 PMID:19095969 PMID:20212195 PMID:21088392 PMID:22436003 PMID:23876515 PMID:29651748 , PMID:12220690 , PMID:25673638
RGD:11537477 , RGD:11541064
NCBI chr16:74,098,263...74,122,897
Ensembl chr16:74,098,260...74,122,889
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Plau
plasminogen activator, urokinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:1265806 PMID:8025938 PMID:9731615 PMID:15181847 PMID:17702958
NCBI chr15:3,644,296...3,650,765
Ensembl chr15:3,644,769...3,650,819
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Pomc
proopiomelanocortin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:6254450
NCBI chr 6:28,382,937...28,388,771
Ensembl chr 6:28,382,962...28,388,967
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Psen1
presenilin 1
ISO
RGD
PMID:16079160
RGD:1580694
NCBI chr 6:107,169,514...107,221,000
Ensembl chr 6:107,169,528...107,216,798
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Ptgs2
prostaglandin-endoperoxide synthase 2
IEP ISO
protein:increased expression:neuron, astrocyte, blood vessel
RGD
PMID:21385433 , PMID:21385433
RGD:5508223 , RGD:5508223
NCBI chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335
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Rela
RELA proto-oncogene, NF-kB subunit
IDA
protein:increased activity:striatum
RGD
PMID:17250675
RGD:2302394
NCBI chr 1:220,992,770...221,003,249
Ensembl chr 1:220,992,770...221,003,249
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Relb
RELB proto-oncogene, NF-kB subunit
IDA
mRNA, protein:increased expression, increased activity:striatum
RGD
PMID:17250675
RGD:2302394
NCBI chr 1:80,517,081...80,545,019
Ensembl chr 1:80,517,411...80,544,825
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S100b
S100 calcium binding protein B
disease_progression
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19027832 , PMID:19505208
RGD:5508801
NCBI chr20:13,130,633...13,142,856
Ensembl chr20:13,130,636...13,142,856
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Serpinc1
serpin family C member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:6636041
NCBI chr13:78,806,107...78,820,375
Ensembl chr13:78,805,347...78,833,192
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Slc24a1
solute carrier family 24 member 1
IEP
mRNA, protein:decreased expression:cerebrum
RGD
PMID:23564126
RGD:9685494
NCBI chr 8:70,409,683...70,438,352
Ensembl chr 8:70,408,528...70,436,028
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Slc8b1
solute carrier family 8 member B1
IEP
RGD
PMID:23564126
RGD:9685494
NCBI chr12:41,566,980...41,590,294
Ensembl chr12:41,566,981...41,590,244
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Spp1
secreted phosphoprotein 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:20440599
NCBI chr14:6,673,686...6,679,965
Ensembl chr14:6,673,686...6,679,901
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Sqstm1
sequestosome 1
IEP
protein:decreased expression:basal ganglion
RGD
PMID:23884876
RGD:11561935
NCBI chr10:35,704,728...35,716,316
Ensembl chr10:35,704,730...35,716,294
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Thbs1
thrombospondin 1
IEP
RGD
PMID:20136391
RGD:2317938
NCBI chr 3:109,862,120...109,873,466
Ensembl chr 3:109,862,117...109,873,466
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Thbs2
thrombospondin 2
IEP
RGD
PMID:20136391
RGD:2317938
NCBI chr 1:56,653,929...56,683,571
Ensembl chr 1:56,653,938...56,683,731
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Vegfa
vascular endothelial growth factor A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17888890
NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
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Col4a1
collagen type IV alpha 1 chain
ISO
ClinVar Annotator: match by OMIM:607595 ClinVar Annotator: match by term: Brain small vessel disease 1 with or without ocular anomalies ClinVar Annotator: match by term: Brain small vessel disease with hemorrhage ClinVar Annotator: match by term: LEUKOENCEPHALOPATHY WITH AXENFELD-RIEGER ANOMALY ClinVar Annotator: match by term: Porencephaly 1
ClinVar OMIM
PMID:6428250 PMID:7257746 PMID:15023374 PMID:15136694 PMID:15905400 PMID:16107487 PMID:16598045 PMID:17696175 PMID:17938367 PMID:18077766 PMID:19194877 PMID:19477666 PMID:20385946 PMID:20733150 PMID:21527998 PMID:21625620 PMID:22102590 PMID:22522439 PMID:22574627 PMID:23065703 PMID:23225343 PMID:23394911 PMID:24088041 PMID:24628545 PMID:25326635 PMID:25741868 PMID:25741869 PMID:26467025 PMID:26633545 PMID:28017902 PMID:28492532 PMID:32042920 PMID:32488064 PMID:32732225 PMID:32818659
NCBI chr16:83,522,162...83,632,153
Ensembl chr16:83,522,162...83,632,153
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Col4a2
collagen type IV alpha 2 chain
ISO
ClinVar Annotator: match by term: Brain small vessel disease with hemorrhage
ClinVar
PMID:25741868 PMID:26467025
NCBI chr16:83,386,388...83,522,169
Ensembl chr16:83,387,364...83,438,561
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Abcc2
ATP binding cassette subfamily C member 2
susceptibility
ISO
associated with Carcinoma, Non-Small-Cell Lung;DNA:SNP, haplotype:promoter,cds: 3972C>T, -24C>T(human)
RGD
PMID:20943283
RGD:11080978
NCBI chr 1:263,554,426...263,612,556
Ensembl chr 1:263,554,453...263,613,252
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Dpyd
dihydropyrimidine dehydrogenase
treatment
ISO
associated with Neoplasms;DNA:SNP:intron:IVS14+1G>A (human) associated with Stomach Neoplasms
RGD
PMID:19473056 , PMID:23064955
RGD:11098817 , RGD:11251740
NCBI chr 2:221,823,692...222,694,627
Ensembl chr 2:221,823,687...222,694,627
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Gstm1
glutathione S-transferase mu 1
susceptibility treatment
ISO
associated with Ovarian Neoplasms;DNA:deletion: : (human) associated with diffuse large B-cell lymphoma; DNA:deletion:cds:
RGD
PMID:19786980 , PMID:20303013
RGD:5688741 , RGD:10450835
NCBI chr 2:210,803,869...210,809,461
Ensembl chr 2:210,803,869...210,809,306
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Gstt1
glutathione S-transferase theta 1
treatment
ISO
associated with diffuse large B-cell lymphoma; DNA:deletion:cds:
RGD
PMID:20303013
RGD:10450835
NCBI chr20:13,799,102...13,816,527
Ensembl chr20:13,799,102...13,816,526
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Il1a
interleukin 1 alpha
treatment
ISO
associated with Carcinoma, Non-Small-Cell Lung associated with Ovarian Neoplasms
RGD
PMID:7666093 , PMID:8151314
RGD:11051963 , RGD:11051964
NCBI chr 3:121,824,712...121,836,122
Ensembl chr 3:121,825,412...121,836,086
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Il1b
interleukin 1 beta
treatment
ISO
associated with Glioblastoma;
RGD
PMID:1331350
RGD:10450883
NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
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Pecam1
platelet and endothelial cell adhesion molecule 1
severity
ISO
RGD
PMID:10942385 , PMID:17234740
RGD:11541093 , RGD:11541120
NCBI chr10:94,850,971...94,913,202
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Acvrl1
activin A receptor like type 1
ISO
ClinVar Annotator: match by term: nosebleed
ClinVar
PMID:15687131 PMID:16540754 PMID:17786384 PMID:18159113 PMID:20501893 PMID:21378382 PMID:22632830 PMID:23298310 PMID:23919827 PMID:25741868 PMID:26387786 PMID:28492532 PMID:32581362
NCBI chr 7:142,769,942...142,787,336
Ensembl chr 7:142,776,252...142,787,335
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Eng
endoglin
ISO
ClinVar Annotator: match by term: Spontaneous, recurrent epistaxis
ClinVar
PMID:16542389 PMID:28492532 PMID:30251589 , PMID:10562296
RGD:11041563
NCBI chr 3:11,679,530...11,717,486
Ensembl chr 3:11,679,530...11,717,485
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Gstt1
glutathione S-transferase theta 1
susceptibility
ISO
DNA:deletion:cds (human)
RGD
PMID:18066575
RGD:7794809
NCBI chr20:13,799,102...13,816,527
Ensembl chr20:13,799,102...13,816,526
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Apc
APC regulator of WNT signaling pathway
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24430131
NCBI chr18:27,011,710...27,106,323
Ensembl chr18:27,047,382...27,105,531
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Avp
arginine vasopressin
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:6983645
NCBI chr 3:123,117,482...123,119,460
Ensembl chr 3:123,117,492...123,119,460
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Bax
BCL2 associated X, apoptosis regulator
treatment
IEP
RGD
PMID:24058648
RGD:10058975
NCBI chr 1:101,451,801...101,457,207
Ensembl chr 1:101,451,802...101,457,207
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Chek2
checkpoint kinase 2
ISO
ClinVar Annotator: match by term: Hematochezia
ClinVar
PMID:10617473 PMID:11053450 PMID:11479205 PMID:11719428 PMID:11967536 PMID:12094328 PMID:12533788 PMID:12690581 PMID:14648717 PMID:14648718 PMID:14648719 PMID:15087378 PMID:15122511 PMID:15488637 PMID:15492928 PMID:15520402 PMID:16257342 PMID:16492927 PMID:16880452 PMID:17085682 PMID:18172190 PMID:19338683 PMID:19805189 PMID:21779515 PMID:21807500 PMID:21956126 PMID:22006311 PMID:22058428 PMID:22419737 PMID:22811390 PMID:22994785 PMID:23469205 PMID:24033266 PMID:24884479 PMID:25431674 PMID:25741868 PMID:26084796 PMID:26467025 PMID:26641009 PMID:26681312 PMID:26822237 PMID:26845104 PMID:26884562 PMID:26976419 PMID:27083775 PMID:27153395 PMID:27223485 PMID:27269948 PMID:27433846 PMID:27751358 PMID:27798748 PMID:28125075 PMID:28135145 PMID:28195393 PMID:28492532 PMID:28503720 PMID:28514723 PMID:28727877 PMID:28734145 PMID:28779002 PMID:28802053 PMID:28874143 PMID:29351919 PMID:29489754 PMID:29522266 PMID:31300551 PMID:31993860 PMID:32119081 PMID:32285038 PMID:32295079 PMID:32383162 PMID:32531112
NCBI chr12:51,845,574...51,878,098
Ensembl chr12:51,845,796...51,877,624
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Csf2
colony stimulating factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11732872
NCBI chr10:39,602,089...39,604,070
Ensembl chr10:39,602,089...39,604,070
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Ltf
lactotransferrin
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:15651117
NCBI chr 8:119,290,416...119,313,261
Ensembl chr 8:119,290,416...119,313,261
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Vwf
von Willebrand factor
IEP
protein:increased expression: :
RGD
PMID:9790822
RGD:11080743
NCBI chr 4:158,085,059...158,219,525
Ensembl chr 4:158,088,505...158,219,523
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Abcg5
ATP binding cassette subfamily G member 5
ISO
ClinVar Annotator: match by term: Gingival hemorrhage
ClinVar
PMID:32581362
NCBI chr 6:7,935,771...7,961,207
Ensembl chr 6:7,935,771...7,961,207
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Sema6b
semaphorin 6B
ISO
ClinVar Annotator: match by term: Grade I preterm intraventricular hemorrhage
ClinVar
PMID:31474318
NCBI chr 9:10,934,273...10,951,252
Ensembl chr 9:10,941,613...10,951,252
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Ccl2
C-C motif chemokine ligand 2
ISO
associated with Hemophilia A;protein:increased expression:synovial fluid (mouse)
RGD
PMID:19444976
RGD:11528538
NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
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Il6
interleukin 6
treatment
ISO
associated with Hemophilia A
RGD
PMID:23413986
RGD:11060150
NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
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Cd36
CD36 molecule
treatment
ISO
associated with Cerebral Hemorrhage
RGD
PMID:24808360 , PMID:24808360
RGD:11040930 , RGD:11040930
NCBI chr 4:14,150,309...14,191,498
Ensembl chr 4:14,001,761...14,249,749
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S100b
S100 calcium binding protein B
IEP ISO
associated with Stroke;protein:increased expression:serum CTD Direct Evidence: marker/mechanism
CTD
PMID:19027832 , PMID:19147496
RGD:5508832
NCBI chr20:13,130,633...13,142,856
Ensembl chr20:13,130,636...13,142,856
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Plat
plasminogen activator, tissue type
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10914357 PMID:12227717
NCBI chr16:74,098,263...74,122,897
Ensembl chr16:74,098,260...74,122,889
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Aspg
asparaginase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:2187653
NCBI chr 6:136,682,279...136,701,673
Ensembl chr 6:136,682,126...136,701,628
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C3
complement C3
ISO
protein:increased expression:renal arteriole:
RGD
PMID:10955930
RGD:7183083
NCBI chr 9:9,721,137...9,747,084
Ensembl chr 9:9,721,105...9,747,167
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Col4a3
collagen type IV alpha 3 chain
ISO
ClinVar Annotator: match by term: Hematuria
ClinVar
PMID:25741868 , PMID:19357112
RGD:7242047
NCBI chr 9:88,357,528...88,484,735
Ensembl chr 9:88,357,556...88,485,830
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Col4a4
collagen type IV alpha 4 chain
ISO
RGD
PMID:19357112
RGD:7242047
NCBI chr 9:88,314,763...88,357,183
Ensembl chr 9:88,232,455...88,357,182
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Col4a5
collagen type IV alpha 5 chain
ISO
ClinVar Annotator: match by term: Hematuria
ClinVar
PMID:8648925 PMID:25741868 PMID:30311386
NCBI chr X:112,769,595...112,983,720
Ensembl chr X:112,769,645...112,983,685
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Cyp1a1
cytochrome P450, family 1, subfamily a, polypeptide 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29027484
NCBI chr 8:62,472,087...62,478,122
Ensembl chr 8:62,472,095...62,478,147
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F7
coagulation factor VII
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:17133240
NCBI chr16:81,824,610...81,834,923
Ensembl chr16:81,824,111...81,834,945
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Fos
Fos proto-oncogene, AP-1 transcription factor subunit
treatment
IDA IEP
RGD
PMID:22634839 , PMID:22634839
RGD:7242178 , RGD:7242178
NCBI chr 6:109,300,433...109,303,299
Ensembl chr 6:109,300,433...109,303,299
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Lmx1b
LIM homeobox transcription factor 1 beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19147669
NCBI chr 3:12,608,748...12,686,937
Ensembl chr 3:12,609,574...12,686,869
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Plau
plasminogen activator, urokinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8225663
NCBI chr15:3,644,296...3,650,765
Ensembl chr15:3,644,769...3,650,819
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Pomc
proopiomelanocortin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:1267567 PMID:1324751
NCBI chr 6:28,382,937...28,388,771
Ensembl chr 6:28,382,962...28,388,967
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Adm
adrenomedullin
treatment
ISO IEP
RGD
PMID:18403050 , PMID:15973109
RGD:7364987 , RGD:7364990
NCBI chr 1:175,443,189...175,447,260
Ensembl chr 1:175,445,088...175,447,259
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Aldh1a7
aldehyde dehydrogenase family 1, subfamily A7
severity
IEP
mRNA:decreased expression:liver
RGD
PMID:23810746 , PMID:21643955
RGD:14367884 , RGD:14367885
NCBI chr 1:240,584,233...240,601,843
Ensembl chr 1:240,562,423...240,601,744
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Angpt1
angiopoietin 1
ISO
RGD
PMID:18344375
RGD:2316067
NCBI chr 7:81,338,327...81,592,459
Ensembl chr 7:81,342,280...81,592,206
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Arg2
arginase 2
IEP
protein:increased expression:aorta (rat)
RGD
PMID:20699748
RGD:4143274
NCBI chr 6:102,311,097...102,338,406
Ensembl chr 6:102,311,116...102,338,520
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Bad
BCL2-associated agonist of cell death
IEP
protein:decreased serine phosphorylation:lung
RGD
PMID:15345971
RGD:2292699
NCBI chr 1:222,198,516...222,207,459
Ensembl chr 1:222,198,534...222,207,453
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Bcl2
BCL2, apoptosis regulator
IEP
mRNA:increased expression:intestine
RGD
PMID:17693937
RGD:2293072
NCBI chr13:26,605,426...26,769,374
Ensembl chr13:26,605,426...26,769,374
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Bcl2l1
Bcl2-like 1
IEP
protein:increased expression:liver, mitochondrion
RGD
PMID:17224795
RGD:1643525
NCBI chr 3:148,259,594...148,314,191
Ensembl chr 3:148,259,596...148,313,810
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Casp3
caspase 3
IEP
associated with Brain Injuries, Traumatic
RGD
PMID:29061477
RGD:13782298
NCBI chr16:48,845,011...48,863,249
Ensembl chr16:48,845,012...48,863,204
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Casp8
caspase 8
IEP
associated with Brain Injuries, Traumatic
RGD
PMID:29061477
RGD:13782298
NCBI chr 9:65,614,142...65,662,624
Ensembl chr 9:65,614,142...65,662,106
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Cfh
complement factor H
treatment
ISO IEP
RGD
PMID:18403050 , PMID:18496585 , PMID:15973109
RGD:7364987 , RGD:11041173 , RGD:7364990
NCBI chr13:56,979,155...57,080,540
Ensembl chr13:56,978,607...57,080,622
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Cnr1
cannabinoid receptor 1
IMP
mRNA, protein:increased expression:aorta, mesenteric artery
RGD
PMID:19493421
RGD:2314664
NCBI chr 5:49,307,584...49,333,064
Ensembl chr 5:49,311,030...49,333,056
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Cul5
cullin 5
IEP
mRNA:altered expression:brain
RGD
PMID:12635525
RGD:2301433
NCBI chr 8:58,199,992...58,255,149
Ensembl chr 8:58,202,821...58,253,688
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Cxcl1
C-X-C motif chemokine ligand 1
IEP ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21192278 , PMID:21168948
RGD:5128673
NCBI chr14:18,743,678...18,745,457
Ensembl chr14:18,743,685...18,745,457
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Cxcl2
C-X-C motif chemokine ligand 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21192278
NCBI chr14:18,731,346...18,733,391
Ensembl chr14:18,731,378...18,733,391
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Cxcl3
C-X-C motif chemokine ligand 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21192278
NCBI chr14:18,820,168...18,839,659
Ensembl chr14:18,820,168...18,839,595
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Epo
erythropoietin
treatment
ISO
RGD
PMID:20539178
RGD:10401059
NCBI chr12:22,274,828...22,278,268
Ensembl chr12:22,274,828...22,278,266
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Esr1
estrogen receptor 1
severity
IMP
RGD
PMID:20195535
RGD:4892252
NCBI chr 1:41,192,029...41,594,799
Ensembl chr 1:41,192,824...41,594,796
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Esr2
estrogen receptor 2
IDA
RGD
PMID:16859701
RGD:8694176
NCBI chr 6:99,163,953...99,214,711
Ensembl chr 6:99,164,357...99,214,251
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F2
coagulation factor II
IEP
protein:decreased activity:blood (rat)
RGD
PMID:21550061
RGD:5132267
NCBI chr 3:80,529,468...80,542,993
Ensembl chr 3:80,529,428...80,543,031
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F8
coagulation factor VIII
IEP
protein:decreased expression:plasma
RGD
PMID:15748447
RGD:10450768
NCBI chr18:367,862...399,242
Ensembl chr18:367,862...399,242
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Gfer
growth factor, augmenter of liver regeneration
ISO
RGD
PMID:23073658
RGD:9685733
NCBI chr10:14,059,347...14,061,703
Ensembl chr10:14,059,347...14,061,703
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Gja1
gap junction protein, alpha 1
IEP
RGD
PMID:19077877
RGD:7207423
NCBI chr20:37,876,650...37,889,097
Ensembl chr20:37,876,650...37,889,089
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Gja5
gap junction protein, alpha 5
IEP
RGD
PMID:19077877
RGD:7207423
NCBI chr 2:199,162,745...199,184,942
Ensembl chr 2:199,162,745...199,184,939
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Hmox1
heme oxygenase 1
severity
IMP IEP
RGD
PMID:20514418 , PMID:20819606
RGD:10755719 , RGD:10755727
NCBI chr19:14,508,634...14,515,455
Ensembl chr19:14,508,616...14,515,456
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Hp
haptoglobin
IEP
RGD
PMID:20016403
RGD:5147418
NCBI chr19:42,096,255...42,100,805
Ensembl chr19:42,097,995...42,100,804
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Hspa1a
heat shock protein family A (Hsp70) member 1A
IEP
mRNA:increased expression:liver
RGD
PMID:22266570
RGD:7257601
NCBI chr20:4,875,834...4,881,751
Ensembl chr20:4,877,324...4,879,779
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Icam1
intercellular adhesion molecule 1
ISO
mRNA, protein:increased expression:lung (mouse) CTD Direct Evidence: marker/mechanism
CTD
PMID:21192278 , PMID:19828841
RGD:4145497
NCBI chr 8:22,035,287...22,047,049
Ensembl chr 8:22,035,256...22,047,059
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Ifng
interferon gamma
IEP
protein:increased expression:plasma
RGD
PMID:19439114
RGD:2311495
NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
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Il10
interleukin 10
IEP
protein:increased expression:serum, lymph
RGD
PMID:19160132
RGD:2311060
NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
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Il18
interleukin 18
ISO
protein:increased expression:plasma
RGD
PMID:23589298
RGD:14695541
NCBI chr 8:55,009,666...55,016,286
Ensembl chr 8:54,993,859...55,016,299
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Il1a
interleukin 1 alpha
IEP
mRNA:increased expression:lung
RGD
PMID:15580020
RGD:2311100
NCBI chr 3:121,824,712...121,836,122
Ensembl chr 3:121,825,412...121,836,086
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Il1b
interleukin 1 beta
severity
IEP
mRNA:increased expression:lung protein:increased expression:kidney, serum (rat)
RGD
PMID:15580020 , PMID:21336199 , PMID:17545943
RGD:2311100 , RGD:7175325 , RGD:1626655
NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
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Il4
interleukin 4
treatment
IEP
RGD
PMID:24986445
RGD:10402801
NCBI chr10:38,963,979...38,969,531
Ensembl chr10:38,963,979...38,969,531
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Il6
interleukin 6
IEP ISO
protein:increased expression:plasma CTD Direct Evidence: marker/mechanism
CTD
PMID:21192278 , PMID:21168948
RGD:5128673
NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
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Mapk1
mitogen activated protein kinase 1
IEP
protein: increased expression: lung and liver
RGD
PMID:22392145
RGD:7244173
NCBI chr11:88,203,863...88,273,301
Ensembl chr11:88,211,599...88,273,254
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Mpo
myeloperoxidase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21192278
NCBI chr10:75,087,892...75,098,260
Ensembl chr10:75,087,892...75,098,260
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Mtor
mechanistic target of rapamycin kinase
treatment
IDA
RGD
PMID:24204984
RGD:10041042
NCBI chr 5:165,263,813...165,373,967
Ensembl chr 5:165,263,800...165,373,967
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Myc
MYC proto-oncogene, bHLH transcription factor
treatment
IDA
RGD
PMID:22113495
RGD:7240568
NCBI chr 7:102,586,313...102,591,240
Ensembl chr 7:102,586,313...102,591,240
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Nos2
nitric oxide synthase 2
IEP
mRNA, protein:increased expression:multiple
RGD
PMID:15854664
RGD:1580937
NCBI chr10:66,188,290...66,221,621
Ensembl chr10:66,189,786...66,313,190
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Nos3
nitric oxide synthase 3
treatment
IEP
mRNA:increased expression: :multiple
RGD
PMID:15854664 , PMID:29122552
RGD:1580937 , RGD:13450929
NCBI chr 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410
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Otc
ornithine transcarbamylase
IEP
protein:increased activity:serum (rat)
RGD
PMID:17224795
RGD:1643525
NCBI chr X:13,524,804...13,601,074
Ensembl chr X:13,524,607...13,601,069
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Rela
RELA proto-oncogene, NF-kB subunit
IEP ISO
protein:increased phosphorylation:nucleus, liver protein:increased phosphorylation, altered location:nucleus, endothelial cell, lung
RGD
PMID:17950078 , PMID:18469645 , PMID:17950083
RGD:2298842 , RGD:2298781 , RGD:2298841
NCBI chr 1:220,992,770...221,003,249
Ensembl chr 1:220,992,770...221,003,249
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Sirt1
sirtuin 1
treatment
IMP IEP
protein:decreased expression:heart left ventricle
RGD
PMID:22113495 , PMID:21554952
RGD:7240568 , RGD:9585770
NCBI chr20:26,831,971...26,851,587
Ensembl chr20:26,833,357...26,852,199
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Slc9a1
solute carrier family 9 member A1
IMP ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17724433 , PMID:19384202
RGD:6771334
NCBI chr 5:151,573,122...151,626,360
Ensembl chr 5:151,573,092...151,627,316
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Sod2
superoxide dismutase 2
treatment
IEP
RGD
PMID:26073907
RGD:26923954
NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
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Tfam
transcription factor A, mitochondrial
IEP
RGD
PMID:22469910
RGD:6767567
NCBI chr20:18,594,057...18,606,106
Ensembl chr20:18,594,037...18,606,151
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Tlr4
toll-like receptor 4
severity
ISO
RGD
PMID:25049041
RGD:14697700
NCBI chr 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052
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Tnf
tumor necrosis factor
treatment
IDA ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21192278 , PMID:24315526
RGD:10450602
NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
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Vwf
von Willebrand factor
IEP
protein:decreased expression:plasma
RGD
PMID:15748447
RGD:10450768
NCBI chr 4:158,085,059...158,219,525
Ensembl chr 4:158,088,505...158,219,523
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Ace
angiotensin I converting enzyme
disease_progression
ISO
DNA:deletion:intron:IVS16+1464-1751del (human)
RGD
PMID:15315169
RGD:11038920
NCBI chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
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Agt
angiotensinogen
severity
ISO
DNA:missense mutation:cds:p.M235T (human) DNA:missense mutation:cds:p.T174M (human)
RGD
PMID:16521052 , PMID:20702504
RGD:11039045 , RGD:11039055
NCBI chr19:57,321,594...57,333,460
Ensembl chr19:57,321,640...57,333,433
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C3
complement C3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:1353212
NCBI chr 9:9,721,137...9,747,084
Ensembl chr 9:9,721,105...9,747,167
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Ccl2
C-C motif chemokine ligand 2
susceptibility
ISO
DNA:snp:promoter:g.-2518C>T (human) protein:increased expression:serum (human)
RGD
PMID:26234573 , PMID:25839768
RGD:11522500 , RGD:11528567
NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
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Cd86
CD86 molecule
treatment
ISO
protein:increased expression:venous blood, B cell (human)
RGD
PMID:27030970
RGD:11354986
NCBI chr11:67,060,305...67,117,990
Ensembl chr11:67,082,193...67,118,795
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Hmox1
heme oxygenase 1
ISO
protein:increased expression:serum
RGD
PMID:20013271
RGD:10755701
NCBI chr19:14,508,634...14,515,455
Ensembl chr19:14,508,616...14,515,456
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Igf1
insulin-like growth factor 1
ISO
protein:increased expression:serum
RGD
PMID:20013271
RGD:10755701
NCBI chr 7:28,412,123...28,491,815
Ensembl chr 7:28,412,198...28,486,609
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Il1rn
interleukin 1 receptor antagonist
ISO
DNA:repeats:intron:IVS2+914_1000dup IL1RN*2 (human)
RGD
PMID:9186886
RGD:6909151
NCBI chr 3:1,449,778...1,468,624
Ensembl chr 3:1,452,644...1,468,614
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Il5
interleukin 5
ISO
protein:increased expression:serum
RGD
PMID:16787590
RGD:11354946
NCBI chr10:39,066,716...39,069,587
Ensembl chr10:39,066,716...39,069,587
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Kng2
kininogen 2
ISO
protein:increased expression:serum
RGD
PMID:26098644
RGD:11059888
NCBI chr11:81,509,185...81,516,759
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Mefv
MEFV innate immuity regulator, pyrin
susceptibility
ISO
DNA:mutations:exons: DNA:mutations:cds: DNA:mutation:exon:p. E148Q (human)
RGD
PMID:22451026 , PMID:25232290 , PMID:20602240
RGD:7349346 , RGD:11531116 , RGD:7349347
NCBI chr10:12,045,813...12,056,229
Ensembl chr10:12,046,541...12,056,311
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Plat
plasminogen activator, tissue type
ISO
protein:increased expression:plasma (human)
RGD
PMID:9543574
RGD:11541055
NCBI chr16:74,098,263...74,122,897
Ensembl chr16:74,098,260...74,122,889
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Plau
plasminogen activator, urokinase
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:9002298 PMID:12671112
NCBI chr15:3,644,296...3,650,765
Ensembl chr15:3,644,769...3,650,819
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Pon1
paraoxonase 1
susceptibility
ISO
DNA:missense mutations:cds:p.L55M, p.Q192R (human)
RGD
PMID:19967651
RGD:11552576
NCBI chr 4:30,249,749...30,276,297
Ensembl chr 4:30,249,742...30,276,372
G
RT1-Ba
RT1 class II, locus Ba
susceptibility
ISO
DNA:polymorphisms:cds:HLA-DQA1*0301, HLA-DQA1*0302 (human)
RGD
PMID:11836690
RGD:5147830
NCBI chr20:4,066,133...4,070,726
Ensembl chr20:4,066,132...4,070,721
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Fcgr2a
Fc fragment of IgG receptor IIa
ISO
RGD
PMID:8772238
RGD:11040889
NCBI chr13:91,146,878...91,163,691
Ensembl chr13:91,168,973...91,198,036 Ensembl chr13:91,168,973...91,198,036
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Fcgr3a
Fc fragment of IgG receptor IIIa
susceptibility
ISO
DNA:SNP:cds:p.V158F(human)
RGD
PMID:15191947
RGD:11040991
NCBI chr13:89,385,775...89,396,047
Ensembl chr13:89,385,859...89,396,051
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Il10
interleukin 10
no_association
ISO
DNA:repeats, haplotype:promoter DNA:SNPs:promoter:rs1800896 (-1082G/A), rs1800871 (-819C/T), rs1800872 (-592C/A) (human)
RGD
PMID:22239992 , PMID:22239992
RGD:11049164 , RGD:11049164
NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
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F7
coagulation factor VII
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:20370756
NCBI chr16:81,824,610...81,834,923
Ensembl chr16:81,824,111...81,834,945
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Col4a1
collagen type IV alpha 1 chain
ISO
ClinVar Annotator: match by term: Intracranial Hemorrhages
ClinVar
PMID:16598045 PMID:17938367 PMID:22102590
NCBI chr16:83,522,162...83,632,153
Ensembl chr16:83,522,162...83,632,153
G
F7
coagulation factor VII
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:15595332 PMID:16159073 PMID:18617125 PMID:20172985 PMID:20522813
NCBI chr16:81,824,610...81,834,923
Ensembl chr16:81,824,111...81,834,945
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Hbb
hemoglobin subunit beta
IEP
mRNA:increased expression:basal ganglion, neuron, glial cell
RGD
PMID:21725744
RGD:10449050
NCBI chr 1:168,971,269...168,972,680
Ensembl chr 1:168,971,274...168,972,725
G
Hspb1
heat shock protein family B (small) member 1
IEP
protein:increased expression:brain:
RGD
PMID:15472083
RGD:10402769
NCBI chr12:23,839,390...23,841,051
Ensembl chr12:23,839,399...23,841,049
G
Il6
interleukin 6
susceptibility
ISO
DNA:polymorphism:promoter -174G>C(human)
RGD
PMID:15331795
RGD:12792203
NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
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Nos3
nitric oxide synthase 3
treatment
IMP
RGD
PMID:29203281
RGD:13504724
NCBI chr 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410
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Plat
plasminogen activator, tissue type
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:2104561 PMID:3168586 PMID:7902905 PMID:8961984 PMID:11320361 PMID:12230423 PMID:15017018 PMID:15215796 PMID:15557913 PMID:17612434 PMID:17687131 PMID:17903947 PMID:20123226 PMID:20536612
NCBI chr16:74,098,263...74,122,897
Ensembl chr16:74,098,260...74,122,889
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Plau
plasminogen activator, urokinase
IMP ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10392865 PMID:10472989 PMID:10512912 PMID:17308290 , PMID:21779364
RGD:6484131
NCBI chr15:3,644,296...3,650,765
Ensembl chr15:3,644,769...3,650,819
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Ppp1r1b
protein phosphatase 1, regulatory (inhibitor) subunit 1B
IEP
RGD
PMID:23543809
RGD:13515075
NCBI chr10:86,303,727...86,312,770
Ensembl chr10:86,303,727...86,312,762
G
Psen1
presenilin 1
ISO
RGD
PMID:9160754
RGD:1302520
NCBI chr 6:107,169,514...107,221,000
Ensembl chr 6:107,169,528...107,216,798
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Serping1
serpin family G member 1
treatment
ISO
associated with Stroke
RGD
PMID:21779364
RGD:6484131
NCBI chr 3:72,161,230...72,171,109
Ensembl chr 3:72,161,189...72,171,078
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Slc23a1
solute carrier family 23 member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11984597
NCBI chr18:28,413,910...28,428,133
Ensembl chr18:28,414,009...28,428,117
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Tf
transferrin
IEP
associated with Iron-Deficiency Anemia;protein:increased expression:basal ganglia
RGD
PMID:16671451
RGD:1601537
NCBI chr 8:111,694,570...111,721,275
Ensembl chr 8:111,673,547...111,721,333
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Tnf
tumor necrosis factor
ISO
RGD
PMID:16322490
RGD:1580310
NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
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Ubiad1
UbiA prenyltransferase domain containing 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23533172
NCBI chr 5:165,247,630...165,259,228
Ensembl chr 5:165,247,133...165,259,224
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Bace1
beta-secretase 1
IEP
protein:increased expression:hippocampus
RGD
PMID:30028260
RGD:13782136
NCBI chr 8:50,140,092...50,162,388
Ensembl chr 8:50,139,997...50,162,361
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Il6
interleukin 6
ISO
associated with Premature Birth;protein:increased expression:serum:
RGD
PMID:22906886
RGD:12792208
NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
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Agt
angiotensinogen
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20824505
NCBI chr19:57,321,594...57,333,460
Ensembl chr19:57,321,640...57,333,433
G
Crh
corticotropin releasing hormone
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12699433 PMID:12699434
NCBI chr 2:104,459,999...104,461,863
Ensembl chr 2:104,459,999...104,461,863
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Gp6
glycoprotein VI
ISO
ClinVar Annotator: match by OMIM:614201
OMIM ClinVar
PMID:19549989 PMID:19552682
NCBI chr 1:72,994,977...73,064,639
Ensembl chr 1:73,040,901...73,064,641
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Abcg5
ATP binding cassette subfamily G member 5
ISO
ClinVar Annotator: match by term: Impaired thromboxane A2 agonist-induced platelet aggregation
ClinVar
PMID:32581362
NCBI chr 6:7,935,771...7,961,207
Ensembl chr 6:7,935,771...7,961,207
G
Tbxa2r
thromboxane A2 receptor
susceptibility
ISO
ClinVar Annotator: match by term: Impaired thromboxane A2 agonist-induced platelet aggregation CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Platelet-type bleeding disorder 13, susceptibility to
ClinVar CTD OMIM
PMID:2955539 PMID:7929844 PMID:8428006 PMID:8613548 PMID:19828703 PMID:22517902 PMID:25741868 PMID:31064749 , PMID:9835625
RGD:11059528
NCBI chr 7:11,253,153...11,259,233
Ensembl chr 7:11,253,180...11,257,977
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Actn1
actinin, alpha 1
ISO
ClinVar Annotator: match by term: Platelet-type bleeding disorder 15 ClinVar Annotator: match by OMIM:615193
OMIM ClinVar
PMID:23434115 PMID:25741868 PMID:31064749 PMID:31237726 PMID:32581362
NCBI chr 6:103,376,557...103,470,497
Ensembl chr 6:103,375,799...103,470,555
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Fli1
Fli-1 proto-oncogene, ETS transcription factor
ISO
ClinVar Annotator: match by term: Bleeding disorder platelet type macrothrombocytopenia
ClinVar
PMID:23809206 PMID:26316623
NCBI chr 8:33,541,932...33,661,111
Ensembl chr 8:33,543,258...33,661,049
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Rasgrp2
RAS guanyl releasing protein 2
ISO
ClinVar Annotator: match by term: Platelet-type bleeding disorder 18
ClinVar OMIM
PMID:24958846 PMID:25741868 PMID:31064749 PMID:32581362
NCBI chr 1:221,771,238...221,788,765
Ensembl chr 1:221,773,254...221,788,765
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Slfn14
schlafen family member 14
ISO
ClinVar Annotator: match by term: Platelet-type bleeding disorder 20
OMIM ClinVar
PMID:26280575 PMID:26769223 PMID:29678925 PMID:32581362
NCBI chr10:70,493,340...70,504,810
G
Fli1
Fli-1 proto-oncogene, ETS transcription factor
ISO
ClinVar Annotator: match by term: BLEEDING DISORDER, PLATELET-TYPE, 21 ClinVar Annotator: match by term: Bleeding disorder, platelet-type, 21 ClinVar Annotator: match by term: BLEEDING DISORDER, PLATELET-TYPE, 21, AUTOSOMAL RECESSIVE
ClinVar OMIM
PMID:23809206 PMID:24100448 PMID:25741868 PMID:26316623 PMID:28255014 PMID:31064749 PMID:32581362 PMID:32987389
NCBI chr 8:33,541,932...33,661,111
Ensembl chr 8:33,543,258...33,661,049
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Med12l
mediator complex subunit 12L
ISO
ClinVar Annotator: match by term: Platelet-type bleeding disorder 8 ClinVar Annotator: match by term: Impaired ADP-induced platelet aggregation
ClinVar
PMID:7706468 PMID:11196645 PMID:20966167 PMID:25741868 PMID:29117459 PMID:31064749
NCBI chr 2:149,213,134...149,316,569
Ensembl chr 2:149,213,134...149,532,292
G
P2ry12
purinergic receptor P2Y12
ISO
ClinVar Annotator: match by term: Impaired ADP-induced platelet aggregation ClinVar Annotator: match by term: Platelet-type bleeding disorder 8
OMIM ClinVar
PMID:7706468 PMID:11196645 PMID:20966167 PMID:25741868 PMID:29117459 PMID:31064749
NCBI chr 2:149,440,807...149,482,592
Ensembl chr 2:149,441,598...149,444,548
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Itga2
integrin subunit alpha 2
ISO
ClinVar Annotator: match by term: Platelet-type bleeding disorder 9 ClinVar Annotator: match by OMIM:614200
OMIM ClinVar
PMID:19500323 PMID:22862885 PMID:23368983 PMID:25741868 PMID:28492532
NCBI chr 2:46,996,904...47,097,011
Ensembl chr 2:47,000,323...47,096,961
G
Mocs2
molybdenum cofactor synthesis 2
ISO
ClinVar Annotator: match by term: Platelet-type bleeding disorder 9
ClinVar
NCBI chr 2:46,980,964...46,992,886
Ensembl chr 2:46,980,976...46,992,883
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Itgb3
integrin subunit beta 3
ISO
ClinVar Annotator: match by term: PEN(a)/PEN(b) ALLOANTIGEN POLYMORPHISM
OMIM ClinVar
PMID:1430225 PMID:9787162 PMID:14516468 PMID:21658138 PMID:28492532
NCBI chr10:92,667,869...92,783,413
Ensembl chr10:92,667,869...92,783,410
G
Elane
elastase, neutrophil expressed
IMP
associated with Pancreatitis, Experimental, sepsis;
RGD
PMID:7587785
RGD:10450559
NCBI chr 7:12,638,320...12,640,168
Ensembl chr 7:12,638,322...12,640,232
G
Psen2
presenilin 2
ISO
RGD
PMID:10518543
RGD:1302521
NCBI chr13:98,513,600...98,539,347
Ensembl chr13:98,513,570...98,530,724
G
Il13
interleukin 13
susceptibility
ISO
associated withe Sjogren's Syndrome;DNA:SNP:cds:2044 G>A(human)
RGD
PMID:16166103
RGD:11528572
NCBI chr10:38,982,909...38,985,466
Ensembl chr10:38,982,909...38,985,466
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Proc
protein C, inactivator of coagulation factors Va and VIIIa
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18376272
NCBI chr18:24,918,402...24,928,822
Ensembl chr18:24,918,398...24,929,091
G
Col4a1
collagen type IV alpha 1 chain
ISO
ClinVar Annotator: match by term: Retinal arteries, tortuosity of
OMIM ClinVar
PMID:20818663 PMID:25228067
NCBI chr16:83,522,162...83,632,153
Ensembl chr16:83,522,162...83,632,153
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Abcc8
ATP binding cassette subfamily C member 8
treatment
IMP
RGD
PMID:24114458
RGD:10003028
NCBI chr 1:102,110,708...102,191,287
Ensembl chr 1:102,110,708...102,191,287
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Adipoq
adiponectin, C1Q and collagen domain containing
ISO
protein:increased expression:cerebrospinal fluid
RGD
PMID:22230897
RGD:8695949
NCBI chr11:81,330,845...81,344,488
Ensembl chr11:81,330,293...81,344,488
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Adora1
adenosine A1 receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18950269
NCBI chr13:51,042,111...51,076,913
Ensembl chr13:51,042,248...51,076,852
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Ager
advanced glycosylation end product-specific receptor
IEP
mRNA, protein:increased expression:brain
RGD
PMID:24291745
RGD:8696000
NCBI chr20:4,363,152...4,366,079
Ensembl chr20:4,363,152...4,366,079
G
Aif1
allograft inflammatory factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27157545
NCBI chr20:5,161,350...5,167,176
Ensembl chr20:5,161,333...5,166,448
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Apoe
apolipoprotein E
ISO
GAD
PMID:15118671
RGD:1331525
NCBI chr 1:80,612,894...80,616,820
Ensembl chr 1:80,612,895...80,617,057
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Bcl2
BCL2, apoptosis regulator
treatment
IEP
RGD
PMID:26163325
RGD:13782347
NCBI chr13:26,605,426...26,769,374
Ensembl chr13:26,605,426...26,769,374
G
Becn1
beclin 1
IEP
protein:increased expression:brain
RGD
PMID:22521819
RGD:6483046
NCBI chr10:89,209,944...89,225,297
Ensembl chr10:89,209,940...89,225,297
G
Bnip3
BCL2 interacting protein 3
treatment
IEP
RGD
PMID:23850688
RGD:11561986
NCBI chr 1:211,248,098...211,265,282
Ensembl chr 1:211,248,098...211,265,282
G
C3
complement C3
treatment
IEP
RGD
PMID:26518242
RGD:11040780
NCBI chr 9:9,721,137...9,747,084
Ensembl chr 9:9,721,105...9,747,167
G
Casp3
caspase 3
treatment
ISO IDA
CTD Direct Evidence: marker/mechanism
CTD
PMID:24602480 , PMID:26163325
RGD:13782347
NCBI chr16:48,845,011...48,863,249
Ensembl chr16:48,845,012...48,863,204
G
Casp9
caspase 9
treatment
IDA
RGD
PMID:26163325
RGD:13782347
NCBI chr 5:160,356,211...160,373,774
Ensembl chr 5:160,355,833...160,373,778
G
Ccl20
C-C motif chemokine ligand 20
IEP
mRNA:increased expression:cerebral artery
RGD
PMID:17977275
RGD:7488893
NCBI chr 9:88,918,359...88,921,017
Ensembl chr 9:88,918,433...88,921,001
G
Cxcl1
C-X-C motif chemokine ligand 1
IEP
mRNA:increased expression:lung
RGD
PMID:20731855
RGD:4145368
NCBI chr14:18,743,678...18,745,457
Ensembl chr14:18,743,685...18,745,457
G
Cybb
cytochrome b-245 beta chain
IEP
Protein:increased expression:cerebral cortex mRNA:increased expression:cerebral vessel:
RGD
PMID:16671452 , PMID:12142572
RGD:1599680 , RGD:11040582
NCBI chr X:14,578,330...14,610,049
Ensembl chr X:14,578,264...14,612,547
G
Cyp3a62
cytochrome P450, family 3, subfamily a, polypeptide 62
ISO
DNA:snp:cds:p.I118V (human)
RGD
PMID:18566305
RGD:5685415
NCBI chr12:18,679,809...18,709,397
Ensembl chr12:18,678,594...18,709,397
G
Ddit3
DNA-damage inducible transcript 3
treatment
IEP
RGD
PMID:30226536
RGD:35316073
NCBI chr 7:70,578,564...70,585,074
Ensembl chr 7:70,580,198...70,585,084
G
Edn1
endothelin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8587695
NCBI chr17:22,136,814...22,143,745
Ensembl chr17:22,137,324...22,143,324
G
Ednrb
endothelin receptor type B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8587695
NCBI chr15:88,004,775...88,036,354
Ensembl chr15:88,006,977...88,036,354
G
Epo
erythropoietin
treatment
ISO
RGD
PMID:23907045
RGD:10400909
NCBI chr12:22,274,828...22,278,268
Ensembl chr12:22,274,828...22,278,266
G
Ern1
endoplasmic reticulum to nucleus signaling 1
treatment
IMP IEP
RGD
PMID:29169414 , PMID:30226536
RGD:34901873 , RGD:35316073
NCBI chr10:94,588,555...94,682,072
Ensembl chr10:94,588,555...94,681,914
G
Esr1
estrogen receptor 1
IEP
protein:increased expression:dentate gyrus
RGD
PMID:23465388
RGD:8553242
NCBI chr 1:41,192,029...41,594,799
Ensembl chr 1:41,192,824...41,594,796
G
Gli1
GLI family zinc finger 1
IEP
mRNA, protein:increased expression:brain
RGD
PMID:23933201
RGD:12859044
NCBI chr 7:70,620,794...70,633,171
Ensembl chr 7:70,620,766...70,630,338
G
Gsk3b
glycogen synthase kinase 3 beta
treatment
IDA
RGD
PMID:27026509
RGD:13792767
NCBI chr11:65,060,884...65,208,842
Ensembl chr11:65,066,235...65,209,268
G
Hcn1
hyperpolarization-activated cyclic nucleotide-gated potassium channel 1
IEP
mRNA,protein:decreased expression:hippocampus:
RGD
PMID:22378889
RGD:9686397
NCBI chr 2:50,099,576...50,499,799
Ensembl chr 2:50,099,576...50,499,799
G
Hif1a
hypoxia inducible factor 1 subunit alpha
IEP
protein:increased expression:brain
RGD
PMID:15703702
RGD:1626323
NCBI chr 6:96,810,868...96,856,303
Ensembl chr 6:96,810,907...96,856,052
G
Hmox1
heme oxygenase 1
IMP ISO IEP
mRNA:increased expression:subarachnoid space
RGD
PMID:16543643 , PMID:14657544 , PMID:19686725
RGD:1582702 , RGD:1598406 , RGD:4145300
NCBI chr19:14,508,634...14,515,455
Ensembl chr19:14,508,616...14,515,456
G
Hspd1
heat shock protein family D (Hsp60) member 1
IEP
mRNA:increased expression:brain stem
RGD
PMID:14753490
RGD:1624246
NCBI chr 9:61,680,529...61,691,202
Ensembl chr 9:61,680,530...61,690,956
G
Htr1b
5-hydroxytryptamine receptor 1B
IEP
RGD
PMID:17542534
RGD:1626451
NCBI chr 8:89,113,984...89,130,830
Ensembl chr 8:89,129,453...89,130,991
G
Icam1
intercellular adhesion molecule 1
IEP
mRNA:increased expression:lung (rat)
RGD
PMID:20731855
RGD:4145368
NCBI chr 8:22,035,287...22,047,049
Ensembl chr 8:22,035,256...22,047,059
G
Il1b
interleukin 1 beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27157545
NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
G
Il1rn
interleukin 1 receptor antagonist
ISO
rat model treated with human protein
RGD
PMID:22679224
RGD:7051590
NCBI chr 3:1,449,778...1,468,624
Ensembl chr 3:1,452,644...1,468,614
G
Il6
interleukin 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27157545
NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
G
Kcnj10
potassium inwardly-rectifying channel, subfamily J, member 10
treatment
IEP
RGD
PMID:22420318
RGD:8662908
NCBI chr13:90,722,945...90,753,338
Ensembl chr13:90,723,092...90,752,581
G
Map3k5
mitogen-activated protein kinase kinase kinase 5
treatment
IEP
RGD
PMID:30226536
RGD:35316073
NCBI chr 1:15,412,603...15,613,752
Ensembl chr 1:15,412,603...15,613,746
G
Mmp1
matrix metallopeptidase 1
no_association
ISO
RGD
PMID:11546917
RGD:1582365
NCBI chr 8:5,703,206...5,723,593
Ensembl chr 8:5,703,206...5,723,591
G
Mmp13
matrix metallopeptidase 13
IDA
RGD
PMID:16961140
RGD:1582545
NCBI chr 8:5,522,739...5,533,018
Ensembl chr 8:5,522,739...5,533,018
G
Mmp2
matrix metallopeptidase 2
IDA
RGD
PMID:22475348
RGD:8657107
NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611
G
Mmp9
matrix metallopeptidase 9
IEP ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27157545 , PMID:17410600
RGD:1642039
NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
G
Nfe2l2
nuclear factor, erythroid 2-like 2
treatment
IEP
RGD
PMID:22304528
RGD:10412722
NCBI chr 3:62,497,568...62,525,146
Ensembl chr 3:62,497,571...62,524,996
G
Ngb
neuroglobin
IEP
protein:increased expression:cerebral cortex
RGD
PMID:24281943
RGD:9743950
NCBI chr 6:111,126,259...111,131,699
Ensembl chr 6:111,126,261...111,132,320
G
Nlk
nemo like kinase
disease_progression
IEP
RGD
PMID:23325309
RGD:12791279
NCBI chr10:65,840,052...65,963,932
Ensembl chr10:65,840,052...65,963,932
G
Nos2
nitric oxide synthase 2
ISO
mRNA:increased expression:brainstem, basilar artery (mouse) CTD Direct Evidence: marker/mechanism
CTD
PMID:17053178 , PMID:21915076
RGD:5509046
NCBI chr10:66,188,290...66,221,621
Ensembl chr10:66,189,786...66,313,190
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Nos3
nitric oxide synthase 3
IEP
mRNA:increased expression:parietal cortex, arteriole (rat)
RGD
PMID:11273938
RGD:7794687
NCBI chr 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410
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Nqo1
NAD(P)H quinone dehydrogenase 1
IEP
mRNA, protein:increased expression:brain
RGD
PMID:21259333
RGD:5133235
NCBI chr19:38,422,210...38,437,103
Ensembl chr19:38,422,164...38,437,180
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Ntn1
netrin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29162556
NCBI chr10:54,761,925...54,982,072
Ensembl chr10:54,761,871...54,967,585
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Ntrk2
neurotrophic receptor tyrosine kinase 2
IDA
RGD
PMID:21193742
RGD:5684779
NCBI chr17:5,934,651...6,245,778
Ensembl chr17:5,933,729...6,244,676
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Pparg
peroxisome proliferator-activated receptor gamma
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29162556
NCBI chr 4:147,274,055...147,399,383
Ensembl chr 4:147,274,107...147,399,380
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Prkn
parkin RBR E3 ubiquitin protein ligase
treatment
IEP
RGD
PMID:28546552
RGD:13432565
NCBI chr 1:48,880,015...50,069,998
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Ptch1
patched 1
IEP
mRNA, protein:increased expression:brain
RGD
PMID:23933201
RGD:12859044
NCBI chr17:1,032,242...1,085,885
Ensembl chr17:1,029,048...1,093,873
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Ptgs2
prostaglandin-endoperoxide synthase 2
ISO
RGD
PMID:21725746
RGD:5508204
NCBI chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335
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Rela
RELA proto-oncogene, NF-kB subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27157545
NCBI chr 1:220,992,770...221,003,249
Ensembl chr 1:220,992,770...221,003,249
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Shh
sonic hedgehog signaling molecule
IEP
mRNA, protein:increased expression:brain
RGD
PMID:23933201
RGD:12859044
NCBI chr 4:718,538...727,691
Ensembl chr 4:718,538...727,691
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Stat3
signal transducer and activator of transcription 3
IEP
mRNA, protein:increased expression, increased phosphorylation:cerebral artery
RGD
PMID:24517975
RGD:8694356
NCBI chr10:88,790,401...88,842,263
Ensembl chr10:88,790,408...88,842,233
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Tacr1
tachykinin receptor 1
IMP
RGD
PMID:17542534
RGD:1626451
NCBI chr 4:113,247,236...113,416,139
Ensembl chr 4:113,247,795...113,414,504
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Tjp1
tight junction protein 1
IDA
protein:altered localization
RGD
PMID:18854840
RGD:2325137
NCBI chr 1:126,146,489...126,515,359
Ensembl chr 1:126,146,489...126,227,469
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Tlr4
toll-like receptor 4
IEP
mRNA, protein:increased expression:brain
RGD
PMID:19719951
RGD:4144093
NCBI chr 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052
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Tmbim6
transmembrane BAX inhibitor motif containing 6
treatment
IDA IEP
mRNA,protein:decreased expression:brain
RGD
PMID:30226536 , PMID:30226536
RGD:35316073 , RGD:35316073
NCBI chr 7:141,039,433...141,070,269
Ensembl chr 7:141,034,982...141,069,989
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Tnc
tenascin C
IEP
protein:increased expression:basilar artery
RGD
PMID:19589197
RGD:4889600
NCBI chr 5:79,789,686...79,874,555
Ensembl chr 5:79,789,671...79,874,671
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Tnf
tumor necrosis factor
IEP ISO
protein:increased expression:brain CTD Direct Evidence: marker/mechanism
CTD
PMID:27157545 , PMID:19719951
RGD:4144093
NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
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Trpm4
transient receptor potential cation channel, subfamily M, member 4
IEP
protein:increased expression:entorhinal cortex
RGD
PMID:24114458
RGD:10003028
NCBI chr 1:101,293,300...101,323,484
Ensembl chr 1:101,293,409...101,323,960
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Unc5b
unc-5 netrin receptor B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29162556
NCBI chr20:30,339,680...30,406,593
Ensembl chr20:30,339,673...30,406,295
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Abcc8
ATP binding cassette subfamily C member 8
treatment
IMP
RGD
PMID:18854840
RGD:2325137
NCBI chr 1:102,110,708...102,191,287
Ensembl chr 1:102,110,708...102,191,287
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Plat
plasminogen activator, tissue type
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:1899364
NCBI chr16:74,098,263...74,122,897
Ensembl chr16:74,098,260...74,122,889
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Epo
erythropoietin
treatment
ISO
RGD
PMID:23415790
RGD:10401075
NCBI chr12:22,274,828...22,278,268
Ensembl chr12:22,274,828...22,278,266
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F7
coagulation factor VII
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:12503044
NCBI chr16:81,824,610...81,834,923
Ensembl chr16:81,824,111...81,834,945
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Wfdc6a
WAP four-disulfide core domain 6A
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:9806378
NCBI chr 3:161,036,703...161,040,511
Ensembl chr 3:161,036,703...161,040,511
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Gp9
glycoprotein IX (platelet)
ISO
RGD
PMID:23103637
RGD:11040532
NCBI chr 4:119,680,671...119,682,006
Ensembl chr 4:119,680,112...119,682,547
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Itga2b
integrin subunit alpha 2b
ISO
RGD
PMID:11493456
RGD:2316362
NCBI chr10:90,397,960...90,416,550
Ensembl chr10:90,398,132...90,415,070
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Itgb3
integrin subunit beta 3
ISO
associated with HIV Infections
RGD
PMID:11493456 , PMID:8565280
RGD:2316362 , RGD:10755471
NCBI chr10:92,667,869...92,783,413
Ensembl chr10:92,667,869...92,783,410
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Vwf
von Willebrand factor
ISO
RGD
PMID:14727254
RGD:1580644
NCBI chr 4:158,085,059...158,219,525
Ensembl chr 4:158,088,505...158,219,523
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Adamts13
ADAM metallopeptidase with thrombospondin type 1 motif, 13
ISO
ClinVar Annotator: match by term: Upshaw-Schulman syndrome ClinVar Annotator: match by term: Thrombotic thrombocytopenic purpura ClinVar Annotator: match by OMIM:274150 CTD Direct Evidence: marker/mechanism Adult Onset Purpura, Thrombotic Thrombocytopenic;DNA:missense mutation:cds:p.R1060W (human) DNA:mutations:multiple (human) protein:decreased activity:plasma (human)
OMIM ClinVar CTD
PMID:6433703 PMID:7094941 PMID:11563771 PMID:11586351 PMID:12181489 PMID:12393505 PMID:12576319 PMID:12656756 PMID:12753286 PMID:14512317 PMID:14563640 PMID:14597993 PMID:15009458 PMID:15126318 PMID:15521921 PMID:15800115 PMID:16453338 PMID:16796708 PMID:16807643 PMID:17003922 PMID:17187257 PMID:17627784 PMID:18031293 PMID:18443791 PMID:18481107 PMID:18581589 PMID:18665921 PMID:19047683 PMID:19055667 PMID:19786614 PMID:19847791 PMID:20647566 PMID:20886194 PMID:21488199 PMID:21676167 PMID:21781265 PMID:22289888 PMID:22529288 PMID:22768050 PMID:23346910 PMID:23621748 PMID:23648131 PMID:23715102 PMID:23847193 PMID:24033266 PMID:24936513 PMID:25442981 PMID:25741868 PMID:25934476 PMID:26081109 PMID:26566785 PMID:27132698 PMID:27802307 PMID:28492532 PMID:30312976 PMID:30792199 PMID:31064749 PMID:31971692 , PMID:18031293 , PMID:11586351 , PMID:16200209 , PMID:9129011
RGD:10449043 , RGD:1598736 , RGD:10449037 , RGD:10449028
NCBI chr 3:5,519,921...5,558,390
Ensembl chr 3:5,519,990...5,558,166
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Cd36
CD36 molecule
ISO
RGD
PMID:7529543
RGD:11041104
NCBI chr 4:14,150,309...14,191,498
Ensembl chr 4:14,001,761...14,249,749
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F3
coagulation factor III, tissue factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:7740478
NCBI chr 2:225,310,686...225,322,281
Ensembl chr 2:225,310,624...225,322,272
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Proc
protein C, inactivator of coagulation factors Va and VIIIa
ISO
RGD
PMID:10936861
RGD:11100014
NCBI chr18:24,918,402...24,928,822
Ensembl chr18:24,918,398...24,929,091
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RT1-Bb
RT1 class II, locus Bb
ISO
DNA:polymorphisms:cds:HLA-DQB1*0301 (human)
RGD
PMID:19922436
RGD:11041754
NCBI chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
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Tfpi
tissue factor pathway inhibitor
treatment
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:7740478 , PMID:7740478
RGD:11340214
NCBI chr 3:71,852,738...71,902,127
Ensembl chr 3:71,852,744...71,893,618
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Thbd
thrombomodulin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:7740478
NCBI chr 3:142,748,673...142,752,325
Ensembl chr 3:142,748,674...142,752,325
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Adamts13
ADAM metallopeptidase with thrombospondin type 1 motif, 13
treatment
ISO
human protein in a rat model
RGD
PMID:9828246 , PMID:26338302
RGD:10449039 , RGD:10449097
NCBI chr 3:5,519,921...5,558,390
Ensembl chr 3:5,519,990...5,558,166
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Vwf
von Willebrand factor
treatment
ISO
RGD
PMID:26863353
RGD:11079195
NCBI chr 4:158,085,059...158,219,525
Ensembl chr 4:158,088,505...158,219,523
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F13a1
coagulation factor XIII A1 chain
ISO
RGD
PMID:12933578
RGD:10450744
NCBI chr17:28,504,650...28,680,015
Ensembl chr17:28,504,623...28,680,362
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Yap1
Yes1 associated transcriptional regulator
ISO
ClinVar Annotator: match by term: Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation ClinVar Annotator: match by OMIM:120433
OMIM ClinVar
PMID:4997531 PMID:24462371 PMID:25741868
NCBI chr 8:6,133,014...6,204,240
Ensembl chr 8:6,135,493...6,203,579
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