RGD DISEASE ONTOLOGY - ANNOTATIONS
RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term: Hemorrhage
Accession: DOID:9008217
browse the term
Definition: Bleeding or escape of blood from a vessel.
Synonyms: exact_synonym: Bleeding; Hemorrhages
primary_id: MESH:D006470 ; RDO:0004420
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Agt
angiotensinogen
ISO
associated with Premature Birth;DNA:polymorphism:promoter:-6G>A (human)
RGD
PMID:19733287
RGD:11039046
NCBI chr 8:125,283,326...125,296,445
Ensembl chr 8:125,283,273...125,296,445
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Apob
apolipoprotein B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31186542
NCBI chr12:8,027,629...8,066,839
Ensembl chr12:8,027,648...8,066,835
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Avpr1a
arginine vasopressin receptor 1A
ISO
associated with Hypertension, Portal
RGD
PMID:14647048
RGD:2300333
NCBI chr10:122,284,404...122,289,358
Ensembl chr10:122,284,404...122,289,357
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Bdkrb2
bradykinin receptor, beta 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16514058
NCBI chr12:105,529,431...105,561,503
Ensembl chr12:105,529,485...105,561,496
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Bnip3
BCL2/adenovirus E1B interacting protein 3
ISO
protein:increased expression:heart left ventricle
RGD
PMID:21193900
RGD:11564331
NCBI chr 7:138,492,565...138,511,235
Ensembl chr 7:138,492,565...138,511,248
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Cav1
caveolin 1, caveolae protein
ISO
protein:decreased expression:myocardium
RGD
PMID:22954805
RGD:8661809
NCBI chr 6:17,306,387...17,341,323
Ensembl chr 6:17,306,334...17,341,451
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Cryab
crystallin, alpha B
ISO
associated with Wounds and Injuries;protein:decreased phosphorylation:heart
RGD
PMID:17293487
RGD:2303639
NCBI chr 9:50,657,251...50,667,936
Ensembl chr 9:50,662,625...50,667,936
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Cxcl1
C-X-C motif chemokine ligand 1
ISO
associated with Wounds, Penetrating
RGD
PMID:20117814
RGD:5135001
NCBI chr 5:91,039,104...91,040,980
Ensembl chr 5:91,039,100...91,040,974
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Cxcl2
C-X-C motif chemokine ligand 2
ISO
associated with Wounds, Penetrating
RGD
PMID:18434445
RGD:5135230
NCBI chr 5:91,051,758...91,053,797
Ensembl chr 5:91,051,730...91,053,797
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Cyp2c65
cytochrome P450, family 2, subfamily c, polypeptide 65
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18429757 PMID:18756910 PMID:20597268 PMID:25521356 PMID:27581200
NCBI chr19:39,049,450...39,082,392
Ensembl chr19:39,049,459...39,082,388
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Entpd1
ectonucleoside triphosphate diphosphohydrolase 1
IMP
RGD
PMID:10470077
RGD:735004
NCBI chr19:40,600,810...40,730,046
Ensembl chr19:40,600,810...40,730,046
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Epha7
Eph receptor A7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30357299
NCBI chr 4:28,811,840...28,969,391
Ensembl chr 4:28,813,131...28,967,499
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F10
coagulation factor X
ISO
RGD
PMID:8073392
RGD:11041766
NCBI chr 8:13,087,308...13,106,676
Ensembl chr 8:13,087,308...13,106,676
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F13a1
coagulation factor XIII, A1 subunit
IMP
RGD
PMID:12529747
RGD:11041809
NCBI chr13:37,051,150...37,234,220
Ensembl chr13:37,051,152...37,234,220
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F2
coagulation factor II
IMP ISO
CTD Direct Evidence: marker/mechanism associated with Wounds and Injuries
CTD RGD
PMID:7740448 PMID:9636195 PMID:23481505 PMID:20664909
RGD:734956 , RGD:10449433 , RGD:10449431
NCBI chr 2:91,442,742...91,466,799
Ensembl chr 2:91,455,665...91,466,759
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F3
coagulation factor III
IMP
RGD
PMID:8692802
RGD:11341698
NCBI chr 3:121,517,186...121,528,701
Ensembl chr 3:121,517,186...121,528,697
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F5
coagulation factor V
ISO
ClinVar Annotator: match by term: Hemorrhage
ClinVar
PMID:25741868 PMID:28492532 PMID:34355501
NCBI chr 1:163,979,396...164,048,539
Ensembl chr 1:163,979,407...164,047,846
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F7
coagulation factor VII
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:12707733 PMID:12851533 PMID:16553518
NCBI chr 8:13,075,499...13,085,809
Ensembl chr 8:13,076,034...13,085,809
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F8
coagulation factor VIII
treatment
ISO
ClinVar Annotator: match by term: Hemorrhage
ClinVar RGD
PMID:6438527 PMID:7728145 PMID:7984443 PMID:11442643 PMID:15921397 PMID:16173970 PMID:17445092 PMID:19473423 PMID:25741868 PMID:32497379 PMID:34272389 PMID:35770352 PMID:36007526 PMID:24931420 More...
RGD:11530071
NCBI chr X:74,213,950...74,426,342
Ensembl chr X:74,216,321...74,426,221
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Fermt3
fermitin family member 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18278053
NCBI chr19:6,976,326...6,996,837
Ensembl chr19:6,976,326...6,996,837
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Fgg
fibrinogen gamma chain
ISO
ClinVar Annotator: match by term: Hemorrhage
ClinVar
PMID:25741868
NCBI chr 3:82,915,031...82,922,363
Ensembl chr 3:82,915,031...82,922,356
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Fos
FBJ osteosarcoma oncogene
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:7844257
NCBI chr12:85,520,664...85,524,048
Ensembl chr12:85,520,664...85,524,047
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Gata2
GATA binding protein 2
IMP
RGD
PMID:22996665
RGD:11049511
NCBI chr 6:88,170,873...88,184,014
Ensembl chr 6:88,170,873...88,184,014
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Gata4
GATA binding protein 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31190750
NCBI chr14:63,436,363...63,509,161
Ensembl chr14:63,436,371...63,509,141
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Gata6
GATA binding protein 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31190750
NCBI chr18:11,052,510...11,085,636
Ensembl chr18:11,052,064...11,085,635
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Hspd1
heat shock protein 1 (chaperonin)
ISO
associated with Wounds and Injuries;mRNA, protein:decreased expression:heart
RGD
PMID:16288780
RGD:1624234
NCBI chr 1:55,116,992...55,127,402
Ensembl chr 1:55,116,994...55,127,402
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Il11
interleukin 11
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:17980069
NCBI chr 7:4,775,372...4,785,877
Ensembl chr 7:4,775,372...4,785,858
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Il1a
interleukin 1 alpha
ISO
RGD
PMID:9326742
RGD:11059516
NCBI chr 2:129,141,530...129,151,892
Ensembl chr 2:129,141,530...129,151,892
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Itgb3
integrin beta 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16153930
NCBI chr11:104,498,826...104,561,302
Ensembl chr11:104,498,826...104,561,302
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Nqo1
NAD(P)H dehydrogenase, quinone 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27581200
NCBI chr 8:108,114,856...108,139,012
Ensembl chr 8:108,114,857...108,129,838
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P2ry12
purinergic receptor P2Y, G-protein coupled 12
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11196645
NCBI chr 3:59,123,692...59,170,408
Ensembl chr 3:59,123,693...59,170,292
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Pi4ka
phosphatidylinositol 4-kinase alpha
ISO
ClinVar Annotator: match by term: Hemorrhage
ClinVar
PMID:25741868
NCBI chr16:17,098,215...17,224,178
Ensembl chr16:17,098,215...17,224,178
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Plat
plasminogen activator, tissue
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:2514002 PMID:8082347 PMID:8427107 PMID:9199818 PMID:9266785 PMID:15016487 PMID:15502123 PMID:22507835 More...
NCBI chr 8:23,247,655...23,272,864
Ensembl chr 8:23,247,743...23,272,860
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Plau
plasminogen activator, urokinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8225663 PMID:9266785 PMID:15502123 PMID:15557913
NCBI chr14:20,886,730...20,893,456
Ensembl chr14:20,886,728...20,893,453
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Podxl
podocalyxin-like
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22016802
NCBI chr 6:31,496,428...31,540,872
Ensembl chr 6:31,496,423...31,540,916
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Pomc
pro-opiomelanocortin-alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:1267567 PMID:3014908
NCBI chr12:4,004,945...4,010,643
Ensembl chr12:4,004,951...4,010,642
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Ptgs1
prostaglandin-endoperoxide synthase 1
ISO
ClinVar Annotator: match by term: Hemorrhage
ClinVar
PMID:25741868
NCBI chr 2:36,106,758...36,142,287
Ensembl chr 2:36,120,438...36,142,284
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Ren1
renin 1 structural
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:6991409
NCBI chr 1:133,278,412...133,288,058
Ensembl chr 1:133,278,248...133,288,063
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Serpind1
serine (or cysteine) peptidase inhibitor, clade D, member 1
ISO
ClinVar Annotator: match by term: Hemorrhage
ClinVar
PMID:25741868
NCBI chr16:17,149,235...17,161,438
Ensembl chr16:17,149,235...17,161,439
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Serpine1
serine (or cysteine) peptidase inhibitor, clade E, member 1
treatment
ISO
protein:increased expression:plasma (rat) ClinVar Annotator: match by term: Hemorrhage
ClinVar RGD
PMID:25741868 PMID:26970714 PMID:9263399
RGD:11073619 , RGD:11080960
NCBI chr 5:137,090,358...137,101,126
Ensembl chr 5:137,090,358...137,101,122
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Serpinf2
serine (or cysteine) peptidase inhibitor, clade F, member 2
ISO
DNA:missense mutation:cds:p.V384M (human)
RGD
PMID:10583218
RGD:1580303
NCBI chr11:75,322,562...75,330,327
Ensembl chr11:75,322,558...75,330,417
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Stxbp2
syntaxin binding protein 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30696774
NCBI chr 8:3,680,960...3,693,998
Ensembl chr 8:3,680,955...3,693,644
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Tnfrsf8
tumor necrosis factor receptor superfamily, member 8
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:29984229
NCBI chr 4:144,993,702...145,041,734
Ensembl chr 4:144,993,707...145,041,734
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Vegfa
vascular endothelial growth factor A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31068094
NCBI chr17:46,327,919...46,343,303
Ensembl chr17:46,327,919...46,343,295
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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 7:127,492,235...127,494,833
Ensembl chr 7:127,485,399...127,494,626 Ensembl chr 7:127,485,399...127,494,626
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Vwf
Von Willebrand factor
ISO
ClinVar Annotator: match by term: Hemorrhage
ClinVar
PMID:16985174 PMID:18230755 PMID:18344424 PMID:19506353 PMID:22995991 PMID:25741868 PMID:26467025 PMID:31064749 PMID:33556167 More...
NCBI chr 6:125,529,911...125,663,642
Ensembl chr 6:125,523,737...125,663,642
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Epo
erythropoietin
treatment
ISO
RGD
PMID:23415790
RGD:10401075
NCBI chr 5:137,481,282...137,484,078
Ensembl chr 5:137,481,282...137,531,504
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F7
coagulation factor VII
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:12503044
NCBI chr 8:13,075,499...13,085,809
Ensembl chr 8:13,076,034...13,085,809
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Kcnn4
potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4
treatment
ISO
RGD
PMID:15379997
RGD:329969897
NCBI chr 7:24,069,750...24,084,635
Ensembl chr 7:24,069,688...24,086,115
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App
amyloid beta precursor protein
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: AMYLOIDOSIS, CEREBROARTERIAL, APP-RELATED | ClinVar Annotator: match by term: CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, ARCTIC VARIANT | ClinVar Annotator: match by term: CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, FLEMISH VARIANT | ClinVar Annotator: match by term: CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, IOWA VARIANT | ClinVar Annotator: match by term: CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, ITALIAN VARIANT | ClinVar Annotator: match by term: Cerebral amyloid angiopathy, APP-related
CTD ClinVar OMIM
PMID:1303172 PMID:1303239 PMID:1303275 PMID:1415269 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:8191290 PMID:8290965 PMID:8410047 PMID:8499923 PMID:8513318 PMID:8577393 PMID:8610157 PMID:8649577 PMID:8863158 PMID:8886002 PMID:9328472 PMID:9754958 PMID:9848098 PMID:10441572 PMID:10631141 PMID:10821838 PMID:11004129 PMID:11311152 PMID:11409420 PMID:11441013 PMID:11487570 PMID:11528419 PMID:11568920 PMID:11978821 PMID:12552037 PMID:12654973 PMID:14623725 PMID:15365148 PMID:15488330 PMID:15502844 PMID:15776278 PMID:16033913 PMID:16178030 PMID:16931535 PMID:18413473 PMID:19061884 PMID:19225789 PMID:19281847 PMID:19363265 PMID:20228223 PMID:20301414 PMID:20523046 PMID:20697050 PMID:21210284 PMID:22503161 PMID:22514144 PMID:23143229 PMID:23224319 PMID:23919771 PMID:24033266 PMID:24278680 PMID:24524897 PMID:24650794 PMID:24878480 PMID:25138979 PMID:25604855 PMID:25741868 PMID:25948718 PMID:26104569 PMID:26402770 PMID:26467025 PMID:26803359 PMID:27000221 PMID:27838006 PMID:27858710 PMID:28304299 PMID:28350801 PMID:28492532 PMID:29263818 PMID:29459625 PMID:29859640 PMID:30279455 PMID:30868685 PMID:31011484 PMID:31937505 PMID:32087291 PMID:32908482 PMID:37051054 More...
NCBI chr16:84,751,236...84,972,187
Ensembl chr16:84,746,573...84,970,654
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Adamts13
ADAM metallopeptidase with thrombospondin type 1 motif 13
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19260037
NCBI chr 2:26,863,363...26,899,638
Ensembl chr 2:26,863,428...26,899,640
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Alb
albumin
ISO
RGD
PMID:6683982
RGD:11036083
NCBI chr 5:90,608,729...90,624,461
Ensembl chr 5:90,608,756...90,624,461
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Cd40
CD40 antigen
ISO
protein:increased expression:peripheral blood, B lymphocyte (human)
RGD
PMID:17654056
RGD:11344977
NCBI chr 2:164,897,535...164,913,574
Ensembl chr 2:164,897,547...164,914,868
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Cd40lg
CD40 ligand
treatment
ISO IEP
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:56,257,448...56,269,402
Ensembl chr X:56,257,503...56,269,402
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Cd86
CD86 antigen
treatment
ISO
protein:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:19379594 PMID:20581660
RGD:11354966 , RGD:11520785
NCBI chr16:36,389,318...36,486,439
Ensembl chr16:36,424,231...36,486,443
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Dnmt3a
DNA methyltransferase 3A
ISO
mRNA:decreased expression:mononuclear cell
RGD
PMID:18683034
RGD:9588662
NCBI chr12:3,851,559...3,964,442
Ensembl chr12:3,856,007...3,964,443
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Dnmt3b
DNA methyltransferase 3B
susceptibility
ISO
mRNA:decreased expression:mononuclear cell DNA:SNP:promoter: -579G>T(human)
RGD
PMID:18683034 PMID:23000068
RGD:9588662 , RGD:9589094
NCBI chr 2:153,491,332...153,529,650
Ensembl chr 2:153,491,370...153,529,650
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Fas
Fas cell surface death receptor
ISO
protein:increased expression:serum:
RGD
PMID:10776692
RGD:11049162
NCBI chr19:34,267,926...34,305,175
Ensembl chr19:34,268,066...34,305,172
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Fcgr2b
Fc receptor, IgG, low affinity IIb
treatment disease_progression
ISO IMP IDA
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 chr 1:170,786,186...170,804,141
Ensembl chr 1:170,786,186...170,804,116
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Fcgr3
Fc receptor, IgG, low affinity III
no_association susceptibility treatment
IMP 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 chr 1:170,878,738...170,893,477
Ensembl chr 1:170,878,743...170,892,504
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Fcgr4
Fc receptor, IgG, low affinity IV
treatment susceptibility
ISO IGI
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 chr 1:170,846,495...170,857,330
Ensembl chr 1:170,846,489...170,857,330
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Gp1ba
glycoprotein 1b, alpha polypeptide
IMP
RGD
PMID:16861348
RGD:10450841
NCBI chr11:70,529,928...70,534,812
Ensembl chr11:70,529,948...70,532,862
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H2-Ab1
histocompatibility 2, class II antigen A, beta 1
treatment
ISO
DNA:polymorphisms:cds:HLA-DQB1*0401 (human)
RGD
PMID:10435723
RGD:11041758
NCBI chr17:34,482,201...34,488,392
Ensembl chr17:34,476,663...34,488,393
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H2-Eb1
histocompatibility 2, class II antigen E beta
treatment
ISO
DNA:polymorphisms:cds:HLA-DRB1*0901, HLA-DRB1*0410 (human)
RGD
PMID:10435723
RGD:11041758
NCBI chr17:34,524,841...34,535,648
Ensembl chr17:34,524,841...34,535,648
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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 chr 1:130,947,459...130,952,707
Ensembl chr 1:130,947,582...130,952,711
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Il18
interleukin 18
ISO
protein:increased expression:plasma:
RGD
PMID:24801815
RGD:11073600
NCBI chr 9:50,466,000...50,493,141
Ensembl chr 9:50,466,127...50,493,140
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Il1a
interleukin 1 alpha
ISO
DNA:SNP:promoter:-899C>T (human)
RGD
PMID:21591983
RGD:11051966
NCBI chr 2:129,141,530...129,151,892
Ensembl chr 2:129,141,530...129,151,892
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Il1rn
interleukin 1 receptor antagonist
susceptibility
ISO
DNA:repeats::
RGD
PMID:20626741
RGD:11528541
NCBI chr 2:24,226,872...24,241,503
Ensembl chr 2:24,226,865...24,241,506
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Il2
interleukin 2
susceptibility
ISO
DNA:polymorphism::-330T>G(human)
RGD
PMID:20626741
RGD:11528541
NCBI chr 3:37,174,862...37,180,103
Ensembl chr 3:37,174,672...37,180,108
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Il4
interleukin 4
disease_progression
ISO
DNA:repeat:intron
RGD
PMID:25051072
RGD:11041894
NCBI chr11:53,503,287...53,509,492
Ensembl chr11:53,493,809...53,509,496
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Itgb3
integrin beta 3
ISO IMP
RGD
PMID:10936026 PMID:24258817
RGD:10755473 , RGD:10755475
NCBI chr11:104,498,826...104,561,302
Ensembl chr11:104,498,826...104,561,302
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Mir130a
microRNA 130a
ISO
RNA:decreased expression:PBMC
RGD
PMID:24801815
RGD:11073600
NCBI chr 2:84,571,459...84,571,522
Ensembl chr 2:84,571,459...84,571,522
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Mir409
microRNA 409
treatment
ISO
RGD
PMID:23360331
RGD:10755694
NCBI chr12:109,709,592...109,709,670
Ensembl chr12:109,709,592...109,709,670
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Plat
plasminogen activator, tissue
ISO
protein:increased expression:plasma (human)
RGD
PMID:2129164
RGD:11541072
NCBI chr 8:23,247,655...23,272,864
Ensembl chr 8:23,247,743...23,272,860
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Ptpn22
protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
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 3:103,763,891...103,819,568
Ensembl chr 3:103,767,111...103,819,563
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Socs1
suppressor of cytokine signaling 1
ISO
ClinVar Annotator: match by term: Autoimmune thrombocytopenia | ClinVar Annotator: match by term: Autoimmune thrombocytopenic purpura
ClinVar
PMID:32853638 PMID:33087723
NCBI chr16:10,601,672...10,603,400
Ensembl chr16:10,600,104...10,603,400
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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 7:25,386,406...25,404,503
Ensembl chr 7:25,386,427...25,404,502
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Gsn
gelsolin
severity
ISO
protein:decreased expression:blood plasma (human)
RGD
PMID:23142649
RGD:329333032
NCBI chr 2:35,146,371...35,197,914
Ensembl chr 2:35,146,392...35,197,904
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Col4a3
collagen, type IV, alpha 3
ISO
ClinVar Annotator: match by term: Benign familial hematuria | ClinVar Annotator: match by term: Microscopic hematuria
ClinVar RGD
PMID:2557550 PMID:9536098 PMID:11134255 PMID:11961012 PMID:12028435 PMID:14582039 PMID:14871398 PMID:15880327 PMID:17216251 PMID:17576681 PMID:19525337 PMID:20847057 PMID:22887978 PMID:23325022 PMID:23927549 PMID:24033266 PMID:24033287 PMID:24052634 PMID:24130771 PMID:24633401 PMID:25229338 PMID:25307543 PMID:25575550 PMID:25741868 PMID:26467025 PMID:26809805 PMID:27391953 PMID:27485810 PMID:27627812 PMID:28492532 PMID:28570636 PMID:28780565 PMID:29098738 PMID:29644057 PMID:29854973 PMID:29946535 PMID:30406062 PMID:30476138 PMID:30487145 PMID:30586318 PMID:30661074 PMID:30773290 PMID:31328266 PMID:32359821 PMID:32647767 PMID:32723786 PMID:32939031 PMID:33532864 PMID:34400539 PMID:36013122 PMID:19357112 More...
RGD:7242047
NCBI chr 1:82,564,647...82,699,778
Ensembl chr 1:82,564,642...82,699,780
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Col4a4
collagen, type IV, alpha 4
ISO
ClinVar Annotator: match by term: Benign familial hematuria | ClinVar Annotator: match by term: Microscopic hematuria CTD Direct Evidence: marker/mechanism
ClinVar CTD RGD
PMID:8787673 PMID:9536098 PMID:9792860 PMID:11961012 PMID:12325029 PMID:12631110 PMID:14582039 PMID:16199547 PMID:16338941 PMID:17216251 PMID:17396119 PMID:17576681 PMID:20301386 PMID:21196518 PMID:24033266 PMID:24033287 PMID:24052634 PMID:24854265 PMID:25307543 PMID:25741868 PMID:26467025 PMID:26809805 PMID:26934356 PMID:27281700 PMID:28476686 PMID:28492532 PMID:28632965 PMID:28844315 PMID:29496980 PMID:29801666 PMID:29854973 PMID:30295827 PMID:30586318 PMID:30745910 PMID:30968591 PMID:31686460 PMID:31934206 PMID:32332277 PMID:32604935 PMID:32703181 PMID:32939031 PMID:33048202 PMID:33095447 PMID:33369211 PMID:33532864 PMID:33772369 PMID:33838161 PMID:34584596 PMID:34746741 PMID:35485766 PMID:35759000 PMID:19357112 More...
RGD:7242047
NCBI chr 1:82,426,140...82,564,570
Ensembl chr 1:82,426,144...82,564,570
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Col4a5
collagen, type IV, alpha 5
ISO
ClinVar Annotator: match by term: Familial hematuria | ClinVar Annotator: match by term: Microscopic hematuria
ClinVar
PMID:25741868
NCBI chr X:140,258,367...140,472,232
Ensembl chr X:140,258,381...140,472,230
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Lama5
laminin, alpha 5
ISO
ClinVar Annotator: match by term: Familial hematuria
ClinVar
PMID:25741868 PMID:28492532 PMID:29764427
NCBI chr 2:179,818,166...179,867,652
Ensembl chr 2:179,818,166...179,867,652
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Myo1e
myosin IE
ISO
ClinVar Annotator: match by term: Microscopic hematuria
ClinVar
PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr 9:70,114,632...70,307,349
Ensembl chr 9:70,114,632...70,307,048
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Plce1
phospholipase C, epsilon 1
ISO
ClinVar Annotator: match by term: Microscopic hematuria
ClinVar
PMID:25741868
NCBI chr19:38,469,438...38,773,549
Ensembl chr19:38,469,557...38,773,474
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Wt1
WT1 transcription factor
ISO
ClinVar Annotator: match by term: Microscopic hematuria
ClinVar
PMID:9108089 PMID:24033266 PMID:24728327 PMID:25741868 PMID:28492532
NCBI chr 2:104,956,874...105,003,959
Ensembl chr 2:104,956,874...105,003,961
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Col4a4
collagen, type IV, alpha 4
ISO
ClinVar Annotator: match by term: COL4A4-related condition
OMIM ClinVar
PMID:9536098 PMID:9792860 PMID:12325029 PMID:12631110 PMID:14871398 PMID:15618242 PMID:16199547 PMID:17216251 PMID:17396119 PMID:17576681 PMID:19129241 PMID:20301386 PMID:21196518 PMID:21897443 PMID:24033266 PMID:24052634 PMID:24130771 PMID:24522496 PMID:24854265 PMID:25307543 PMID:25575550 PMID:25741868 PMID:26467025 PMID:26809805 PMID:26934356 PMID:27281700 PMID:27859054 PMID:27884173 PMID:28492532 PMID:28632965 PMID:28780565 PMID:30002862 PMID:30883042 PMID:31049720 PMID:31922066 PMID:33532864 PMID:35090027 PMID:35419377 PMID:36925663 More...
NCBI chr 1:82,426,140...82,564,570
Ensembl chr 1:82,426,144...82,564,570
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Col4a3
collagen, type IV, alpha 3
ISO
OMIM
NCBI chr 1:82,564,647...82,699,778
Ensembl chr 1:82,564,642...82,699,780
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Col4a1
collagen, type IV, alpha 1
IAGP ISO
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 1 with or without ocular anomalies | ClinVar Annotator: match by term: Brain small vessel disease with hemorrhage CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Brain small vessel disease 1 with or without ocular anomalies | ClinVar Annotator: match by term: GOULD SYNDROME 1 | ClinVar Annotator: match by term: RETINAL ARTERIOLAR TORTUOSITY, INFANTILE HEMIPARESIS, AND LEUKOENCEPHALOPATHY, AUTOSOMAL DOMINANT
MouseDO ClinVar OMIM CTD
PMID:906807 PMID:2211826 PMID:3691802 PMID:6428250 PMID:7257746 PMID:7695699 PMID:8218237 PMID:9016532 PMID:9536098 PMID:9724608 PMID:10713126 PMID:10896941 PMID:12011424 PMID:15023374 PMID:15136694 PMID:15905400 PMID:16107487 PMID:16159887 PMID:16199547 PMID:16598045 PMID:17078022 PMID:17576681 PMID:17696175 PMID:17938367 PMID:18077766 PMID:19194877 PMID:19344236 PMID:19477666 PMID:20301768 PMID:20385946 PMID:20733150 PMID:21527998 PMID:21625620 PMID:22102590 PMID:22522439 PMID:22574627 PMID:22914737 PMID:23065703 PMID:23225343 PMID:23394911 PMID:24088041 PMID:24374867 PMID:24628545 PMID:25326635 PMID:25457163 PMID:25590979 PMID:25706114 PMID:25719457 PMID:25741868 PMID:25741869 PMID:25741905 PMID:26310487 PMID:26362372 PMID:26467025 PMID:26633545 PMID:28017902 PMID:28369186 PMID:28442301 PMID:28492532 PMID:29602769 PMID:29927466 PMID:30087447 PMID:30181649 PMID:30413629 PMID:30653986 PMID:31051113 PMID:31069529 PMID:31230195 PMID:31719132 PMID:31857254 PMID:32033901 PMID:32042920 PMID:32488064 PMID:32499604 PMID:32515830 PMID:32732225 PMID:32818659 PMID:33298904 PMID:33353976 PMID:33527515 PMID:34906502 PMID:35711275 More...
NCBI chr 8:11,248,423...11,362,889
Ensembl chr 8:11,248,423...11,362,826
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Col4a2
collagen, type IV, alpha 2
ISO
ClinVar Annotator: match by term: Brain small vessel disease with hemorrhage
ClinVar
PMID:25741868 PMID:26467025 PMID:28492532
NCBI chr 8:11,362,878...11,499,287
Ensembl chr 8:11,362,805...11,499,287
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Kat6b
K(lysine) acetyltransferase 6B
ISO
ClinVar Annotator: match by term: Brain small vessel disease with hemorrhage
ClinVar
PMID:25741868
NCBI chr14:21,549,284...21,722,546
Ensembl chr14:21,531,502...21,722,546
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Ace
angiotensin I converting enzyme
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hemorrhage, intracerebral, susceptibility to | ClinVar Annotator: match by term: Stroke, hemorrhagic, susceptibility to
CTD ClinVar
PMID:1313972 PMID:1319114 PMID:1328889 PMID:1386652 PMID:1976655 PMID:2847529 PMID:2849100 PMID:7593601 PMID:7729604 PMID:7783416 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 PMID:20093180 PMID:21471972 PMID:25741868 PMID:28492532 More...
NCBI chr11:105,858,774...105,880,790
Ensembl chr11:105,858,771...105,880,790
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Anxa1
annexin A1
ISO
mRNA:increased expression:brain
RGD
PMID:16034371
RGD:2306905
NCBI chr19:20,350,798...20,368,035
Ensembl chr19:20,350,792...20,368,308
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Apex1
apurinic/apyrimidinic endonuclease 1
ISO
RGD
PMID:15344903
RGD:2315676
NCBI chr14:51,162,406...51,164,645
Ensembl chr14:51,162,425...51,164,596
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Apoe
apolipoprotein E
ISO
DNA:missense mutations, haplotype:cds:p.C112R (rs7412) (human)
RGD
PMID:19251191
RGD:6904207
NCBI chr 7:19,430,169...19,434,326
Ensembl chr 7:19,430,034...19,433,113
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Aqp4
aquaporin 4
ISO
RGD
PMID:25545558
RGD:11541062
NCBI chr18:15,522,451...15,544,039
Ensembl chr18:15,522,553...15,544,039
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Bax
BCL2-associated X protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12721362
NCBI chr 7:45,111,124...45,116,332
Ensembl chr 7:45,111,121...45,116,322
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Bcl2
B cell leukemia/lymphoma 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12721362
NCBI chr 1:106,465,906...106,642,020
Ensembl chr 1:106,465,908...106,642,004
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Bcl2l1
BCL2-like 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12721362
NCBI chr 2:152,600,652...152,673,632
Ensembl chr 2:152,622,588...152,673,648
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Bdnf
brain derived neurotrophic factor
ISO
RGD
PMID:20818776
RGD:4891129
NCBI chr 2:109,505,045...109,557,388
Ensembl chr 2:109,505,045...109,557,352
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Becn1
beclin 1, autophagy related
ISO
protein:increased expression:basal ganglion
RGD
PMID:23884876
RGD:11561935
NCBI chr11:101,179,084...101,193,112
Ensembl chr11:101,176,778...101,193,112
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Bnip3l
BCL2/adenovirus E1B interacting protein 3-like
ISO
RGD
PMID:23771482
RGD:7483577
NCBI chr14:67,222,688...67,246,580
Ensembl chr14:67,222,688...67,246,326
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C3
complement component 3
ISO
RGD
PMID:17114852
RGD:5129540
NCBI chr17:57,510,967...57,535,136
Ensembl chr17:57,510,970...57,535,136
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Casp12
caspase 12
treatment
ISO
RGD
PMID:28544790
RGD:13782167
NCBI chr 9:5,345,419...5,373,034
Ensembl chr 9:5,345,430...5,373,032
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Casp3
caspase 3
ameliorates treatment
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:17971790 PMID:31376096 PMID:28096675
RGD:329337378 , RGD:13782306
NCBI chr 8:47,070,326...47,092,733
Ensembl chr 8:47,070,326...47,092,724
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Casp8
caspase 8
treatment
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:17971790 PMID:28096675
RGD:13782306
NCBI chr 1:58,834,553...58,886,663
Ensembl chr 1:58,834,533...58,886,662
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Casp9
caspase 9
treatment
ISO
RGD
PMID:28096675
RGD:13782306
NCBI chr 4:141,520,923...141,543,289
Ensembl chr 4:141,520,923...141,543,287
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Cd14
CD14 antigen
ISO
mRNA:increased expression:lung, intestine:
RGD
PMID:19534684
RGD:7185660
NCBI chr18:36,858,117...36,859,868
Ensembl chr18:36,858,120...36,859,851
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Cd36
CD36 molecule
IDA
RGD
PMID:19064796
RGD:6893504
NCBI chr 5:17,986,680...18,093,828
Ensembl chr 5:17,986,688...18,093,799
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Cfh
complement component factor h
severity
ISO
RGD
PMID:21871809
RGD:5684553
NCBI chr 1:140,013,593...140,111,149
Ensembl chr 1:140,012,446...140,111,502
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Cntf
ciliary neurotrophic factor
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:11701153
NCBI chr19:12,740,892...12,742,996
Ensembl chr19:12,741,024...12,742,996
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Col4a1
collagen, type IV, alpha 1
IAGP ISO
ClinVar Annotator: match by term: Hemorrhage, intracerebral, susceptibility to | ClinVar Annotator: match by term: Stroke, hemorrhagic, susceptibility to CTD Direct Evidence: marker/mechanism
ClinVar OMIM CTD RGD
PMID:3691802 PMID:7695699 PMID:8218237 PMID:9016532 PMID:9536098 PMID:9724608 PMID:16159887 PMID:16199547 PMID:16598045 PMID:17078022 PMID:17576681 PMID:19344236 PMID:21625620 PMID:22522439 PMID:22574627 PMID:22914737 PMID:23225343 PMID:24374867 PMID:24628545 PMID:25457163 PMID:25741868 PMID:26310487 PMID:26467025 PMID:28492532 PMID:30413629 PMID:30653986 PMID:31051113 PMID:31069529 PMID:31230195 PMID:31719132 PMID:33353976 PMID:33527515 PMID:35711275 PMID:16598045 More...
RGD:1581204
NCBI chr 8:11,248,423...11,362,889
Ensembl chr 8:11,248,423...11,362,826
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Col4a2
collagen, type IV, alpha 2
susceptibility
ISO
DNA:SNPs:: ClinVar Annotator: match by term: COL4A2-Related Disorder | ClinVar Annotator: match by term: Hemorrhage, intracerebral, susceptibility to CTD Direct Evidence: marker/mechanism
ClinVar OMIM CTD RGD
PMID:22209247 PMID:22914737 PMID:24390199 PMID:24646874 PMID:25653287 PMID:25741868 PMID:25741905 PMID:28492532 PMID:28954878 More...
RGD:13450933
NCBI chr 8:11,362,878...11,499,287
Ensembl chr 8:11,362,805...11,499,287
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Csf3
colony stimulating factor 3 (granulocyte)
treatment
ISO
RGD
PMID:19169816
RGD:11039433
NCBI chr11:98,591,287...98,594,457
Ensembl chr11:98,592,089...98,594,455
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Cxcr4
C-X-C motif chemokine receptor 4
treatment
ISO
RGD
PMID:24955809
RGD:11352686
NCBI chr 1:128,515,936...128,520,036
Ensembl chr 1:128,515,936...128,520,030
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Dag1
dystroglycan 1
ISO
RGD
PMID:25545558
RGD:11541062
NCBI chr 9:108,082,060...108,141,176
Ensembl chr 9:108,081,833...108,141,157
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Dcx
doublecortin
ISO
protein:increased expression:dentate gyrus
RGD
PMID:24144742
RGD:12904766
NCBI chr X:142,638,838...142,716,392
Ensembl chr X:142,638,838...142,716,307
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F11
coagulation factor XI
ISO
ClinVar Annotator: match by term: Cerebral hemorrhage
ClinVar
PMID:23929304 PMID:27067486 PMID:28492532 PMID:34776502
NCBI chr 8:45,693,696...45,715,092
Ensembl chr 8:45,694,211...45,715,068
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F13a1
coagulation factor XIII, A1 subunit
ISO
RGD
PMID:9550516
RGD:1581027
NCBI chr13:37,051,150...37,234,220
Ensembl chr13:37,051,152...37,234,220
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F2
coagulation factor II
severity
ISO
protein:increased expression:plasma
RGD
PMID:21244583
RGD:5147770
NCBI chr 2:91,442,742...91,466,799
Ensembl chr 2:91,455,665...91,466,759
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F7
coagulation factor VII
treatment
ISO
human protein in a rat model CTD Direct Evidence: therapeutic
CTD RGD
PMID:16671457 PMID:21127298 PMID:16671457
RGD:11049545
NCBI chr 8:13,075,499...13,085,809
Ensembl chr 8:13,076,034...13,085,809
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Flt1
FMS-like tyrosine kinase 1
ISO
mRNA:increased expression:brain: CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:17888890 PMID:17888890
RGD:10402152
NCBI chr 5:147,498,414...147,663,419
Ensembl chr 5:147,498,414...147,662,821
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Fto
FTO alpha-ketoglutarate dependent dioxygenase
IEP
protein:increased expression:thalamic complex
RGD
PMID:34102854
RGD:329812008
NCBI chr 8:92,039,995...92,395,061
Ensembl chr 8:92,040,153...92,395,067
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Gm32234
predicted gene, 32234
ISO
ClinVar Annotator: match by term: Hemorrhage, intracerebral, susceptibility to
ClinVar
PMID:28492532
NCBI chr10:40,330,078...40,342,623
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Gp6
glycoprotein 6 platelet
ameliorates
IMP
associated with hypertension
RGD
PMID:33556561
RGD:401794565
NCBI chr 7:4,365,852...4,400,849
Ensembl chr 7:4,366,964...4,400,743
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Hmox1
heme oxygenase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12401953
NCBI chr 8:75,820,246...75,827,221
Ensembl chr 8:75,820,249...75,827,217
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Hmox2
heme oxygenase 2
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:16459095
NCBI chr16:4,544,225...4,584,606
Ensembl chr16:4,544,225...4,584,606
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Hp
haptoglobin
treatment
IMP ISO
RGD
PMID:20016097 PMID:20016097
RGD:11041810 , RGD:11041810
NCBI chr 8:110,301,760...110,305,804
Ensembl chr 8:110,301,760...110,305,804
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Ifnb1
interferon beta 1, fibroblast
exacerbates
IMP
RGD
PMID:29301581
RGD:401854231
NCBI chr 4:88,440,253...88,441,083
Ensembl chr 4:88,440,262...88,441,011
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Il1b
interleukin 1 beta
ameliorates
ISO
RGD
PMID:31376096
RGD:329337378
NCBI chr 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059
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Il1rn
interleukin 1 receptor antagonist
treatment
ISO
mRNA:increased expression:striatum (rat) human gene in a rat model
RGD
PMID:22707991 PMID:14753487
RGD:6997504 , RGD:8551833
NCBI chr 2:24,226,872...24,241,503
Ensembl chr 2:24,226,865...24,241,506
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Il6
interleukin 6
ameliorates
ISO
RGD
PMID:31376096
RGD:329337378
NCBI chr 5:30,218,112...30,224,973
Ensembl chr 5:30,218,112...30,224,979
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Itga2b
integrin alpha 2b
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9445356
NCBI chr11:102,344,134...102,360,570
Ensembl chr11:102,344,123...102,360,948
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Itgav
integrin alpha V
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9445356
NCBI chr 2:83,554,796...83,637,261
Ensembl chr 2:83,554,741...83,637,260
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Itgb2
integrin beta 2
IMP
RGD
PMID:18615643
RGD:6482197
NCBI chr10:77,366,164...77,401,542
Ensembl chr10:77,366,086...77,401,542
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Itgb3
integrin beta 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9445356
NCBI chr11:104,498,826...104,561,302
Ensembl chr11:104,498,826...104,561,302
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Kat6b
K(lysine) acetyltransferase 6B
ISO
ClinVar Annotator: match by term: Stroke, hemorrhagic, susceptibility to
ClinVar
PMID:25741868
NCBI chr14:21,549,284...21,722,546
Ensembl chr14:21,531,502...21,722,546
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Kdr
kinase insert domain protein receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17888890
NCBI chr 5:76,093,487...76,139,880
Ensembl chr 5:76,093,487...76,139,118
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Lcn2
lipocalin 2
ISO
RGD
PMID:23416150
RGD:126790480
NCBI chr 2:32,274,649...32,277,751
Ensembl chr 2:32,274,645...32,278,264
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Map1lc3a
microtubule-associated protein 1 light chain 3 alpha
ISO
RGD
PMID:23884876
RGD:11561935
NCBI chr 2:155,118,284...155,119,993
Ensembl chr 2:155,118,217...155,119,993
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Mir126a
microRNA 126a
ameliorates
ISO
RGD
PMID:32160957
RGD:401851064
NCBI chr 2:26,481,369...26,481,441
Ensembl chr 2:26,481,369...26,481,441
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Mir140
microRNA 140
ameliorates
ISO
RGD
PMID:31376096
RGD:329337378
NCBI chr 8:108,277,876...108,277,945
Ensembl chr 8:108,277,876...108,277,945
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Mir152
microRNA 152
treatment
ISO
RGD
PMID:31982825
RGD:21066340
NCBI chr11:96,741,219...96,741,291
Ensembl chr11:96,741,219...96,741,291
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Mir23a
microRNA 23a
ameliorates
ISO
RNA:increased expression:serum
RGD
PMID:33403590 PMID:29771433
RGD:155882539 , RGD:155882557
NCBI chr 8:84,935,147...84,935,221
Ensembl chr 8:84,935,147...84,935,221
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Mmp12
matrix metallopeptidase 12
IAGP
RGD
PMID:15654856
RGD:1582358
NCBI chr 9:7,344,397...7,360,461
Ensembl chr 9:7,344,381...7,369,499
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Mmp2
matrix metallopeptidase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10698078
NCBI chr 8:93,553,920...93,580,049
Ensembl chr 8:93,553,919...93,580,048
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Mmp3
matrix metallopeptidase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17971790
NCBI chr 9:7,445,845...7,455,975
Ensembl chr 9:7,445,822...7,455,975
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Mmp9
matrix metallopeptidase 9
IAGP ISO
CTD Direct Evidence: marker/mechanism|therapeutic
CTD RGD
PMID:14630814 PMID:15488484 PMID:15529013 PMID:16190367 PMID:19095969 PMID:17021183 More...
RGD:1582637
NCBI chr 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770
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Mt1
metallothionein 1
ISO
mRNA:increased expression:cerebral cortex, striatum (rat)
RGD
PMID:16034371
RGD:2306905
NCBI chr 8:94,905,214...94,906,955
Ensembl chr 8:94,905,710...94,906,955
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Mt2
metallothionein 2
ISO
mRNA:increased expression:cerebral cortex, striatum (rat)
RGD
PMID:16034371
RGD:2306905
NCBI chr 8:94,899,246...94,900,195
Ensembl chr 8:94,899,292...94,900,196
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Mtor
mechanistic target of rapamycin kinase
treatment
ISO
RGD
PMID:24602288
RGD:10041041
NCBI chr 4:148,533,039...148,642,142
Ensembl chr 4:148,533,068...148,642,140
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Nfkb1
nuclear factor of kappa light polypeptide gene enhancer in B cells 1, p105
ISO
protein:increased activity:striatum
RGD
PMID:17250675
RGD:2302394
NCBI chr 3:135,290,416...135,397,422
Ensembl chr 3:135,290,416...135,397,308
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Nfkb2
nuclear factor of kappa light polypeptide gene enhancer in B cells 2, p49/p100
ISO
protein:increased activity:striatum
RGD
PMID:17250675
RGD:2302394
NCBI chr19:46,285,478...46,300,839
Ensembl chr19:46,292,759...46,300,824
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Nfkbia
nuclear factor of kappa light polypeptide gene enhancer in B cells inhibitor, alpha
ISO
protein:increased phosphorylation:brain
RGD
PMID:20150961
RGD:10413872
NCBI chr12:55,536,194...55,539,432
Ensembl chr12:55,536,195...55,539,432
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Nppb
natriuretic peptide type B
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:19803787
NCBI chr 4:148,070,264...148,071,662
Ensembl chr 4:148,070,245...148,071,662
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Npy
neuropeptide Y
ISO
protein:increased expression:plasma (rat)
RGD
PMID:15068713
RGD:1580182
NCBI chr 6:49,799,690...49,806,487
Ensembl chr 6:49,799,690...49,806,487
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Nqo1
NAD(P)H dehydrogenase, quinone 1
treatment
ISO
RGD
PMID:29050310
RGD:13442476
NCBI chr 8:108,114,856...108,139,012
Ensembl chr 8:108,114,857...108,129,838
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Plat
plasminogen activator, tissue
treatment severity
ISO IMP
human protein in a rat model CTD Direct Evidence: marker/mechanism associated with Brain Injuries
CTD RGD
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 More...
RGD:11537477 , RGD:11541064
NCBI chr 8:23,247,655...23,272,864
Ensembl chr 8:23,247,743...23,272,860
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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 chr14:20,886,730...20,893,456
Ensembl chr14:20,886,728...20,893,453
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Plod3
procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3
ISO
ClinVar Annotator: match by term: Hemorrhage, intracerebral, susceptibility to
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 5:137,015,873...137,025,500
Ensembl chr 5:137,015,873...137,025,502
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Pomc
pro-opiomelanocortin-alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:6254450
NCBI chr12:4,004,945...4,010,643
Ensembl chr12:4,004,951...4,010,642
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Psen1
presenilin 1
IAGP
RGD
PMID:16079160
RGD:1580694
NCBI chr12:83,734,926...83,781,869
Ensembl chr12:83,734,926...83,781,973
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Ptgs2
prostaglandin-endoperoxide synthase 2
ISO IEP
protein:increased expression:neuron, astrocyte, blood vessel
RGD
PMID:21385433 PMID:21385433
RGD:5508223 , RGD:5508223
NCBI chr 1:149,975,851...149,983,978
Ensembl chr 1:149,975,782...149,983,978
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Rad21
RAD21 cohesin complex component
severity
ISO
RGD
PMID:36538854
RGD:243065265
NCBI chr15:51,826,000...51,856,934
Ensembl chr15:51,825,636...51,855,143
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Rela
v-rel reticuloendotheliosis viral oncogene homolog A (avian)
ISO
protein:increased activity:striatum
RGD
PMID:17250675
RGD:2302394
NCBI chr19:5,686,993...5,698,162
Ensembl chr19:5,687,511...5,698,158
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Relb
avian reticuloendotheliosis viral (v-rel) oncogene related B
ISO
mRNA, protein:increased expression, increased activity:striatum
RGD
PMID:17250675
RGD:2302394
NCBI chr 7:19,340,142...19,363,352
Ensembl chr 7:19,340,142...19,363,363
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S100b
S100 protein, beta polypeptide, neural
disease_progression
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:19027832 PMID:19505208
RGD:5508801
NCBI chr10:76,089,670...76,097,153
Ensembl chr10:76,089,687...76,096,993
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Serpina3b
serine (or cysteine) peptidase inhibitor, clade A, member 3B
ISO
RGD
PMID:12126519
RGD:1580109
NCBI chr12:104,094,245...104,105,805
Ensembl chr12:104,094,255...104,105,804
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Serpinc1
serine (or cysteine) peptidase inhibitor, clade C (antithrombin), member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:6636041
NCBI chr 1:160,806,153...160,830,113
Ensembl chr 1:160,806,155...160,833,433
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Slc24a1
solute carrier family 24 (sodium/potassium/calcium exchanger), member 1
ISO
mRNA, protein:decreased expression:cerebrum
RGD
PMID:23564126
RGD:9685494
NCBI chr 9:64,830,143...64,858,902
Ensembl chr 9:64,830,143...64,858,889
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Slc8b1
solute carrier family 8 (sodium/lithium/calcium exchanger), member B1
ISO
RGD
PMID:23564126
RGD:9685494
NCBI chr 5:120,649,233...120,672,089
Ensembl chr 5:120,649,233...120,672,089
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Spp1
secreted phosphoprotein 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:20440599
NCBI chr 5:104,582,977...104,588,919
Ensembl chr 5:104,582,984...104,588,916
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Sqstm1
sequestosome 1
ISO
protein:decreased expression:basal ganglion
RGD
PMID:23884876
RGD:11561935
NCBI chr11:50,090,979...50,105,303
Ensembl chr11:50,090,193...50,101,654
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Thbs1
thrombospondin 1
ISO
RGD
PMID:20136391
RGD:2317938
NCBI chr 2:117,942,357...117,957,614
Ensembl chr 2:117,942,357...117,957,614
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Thbs2
thrombospondin 2
ISO
RGD
PMID:20136391
RGD:2317938
NCBI chr17:14,885,762...14,914,524
Ensembl chr17:14,885,762...14,914,497
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Tnf
tumor necrosis factor
ameliorates
ISO
RGD
PMID:31376096
RGD:329337378
NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983
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Vegfa
vascular endothelial growth factor A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17888890
NCBI chr17:46,327,919...46,343,303
Ensembl chr17:46,327,919...46,343,295
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Abcc2
ATP-binding cassette, sub-family 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 chr19:43,770,747...43,826,771
Ensembl chr19:43,770,631...43,829,179
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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 3:118,355,758...119,226,573
Ensembl chr 3:118,355,778...119,226,573
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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 3:107,919,566...107,925,289
Ensembl chr 3:107,919,571...107,925,289
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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 chr10:75,619,647...75,634,418
Ensembl chr10:75,619,647...75,634,418
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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 2:129,141,530...129,151,892
Ensembl chr 2:129,141,530...129,151,892
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Il1b
interleukin 1 beta
treatment
ISO
associated with Glioblastoma;
RGD
PMID:1331350
RGD:10450883
NCBI chr 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059
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Pecam1
platelet/endothelial cell adhesion molecule 1
severity
ISO IMP
RGD
PMID:10942385 PMID:17234740
RGD:11541093 , RGD:11541120
NCBI chr11:106,545,039...106,606,107
Ensembl chr11:106,545,043...106,641,454
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Pf4
platelet factor 4
treatment
ISO
RGD
PMID:31863655
RGD:329901923
NCBI chr 5:90,920,362...90,921,242
Ensembl chr 5:90,920,294...90,921,242
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Acvrl1
activin A receptor, type II-like 1
ISO
ClinVar Annotator: match by term: Epistaxis
ClinVar
PMID:11484689 PMID:15687131 PMID:16540754 PMID:17786384 PMID:18159113 PMID:18498373 PMID:20056902 PMID:20501893 PMID:21378382 PMID:22632830 PMID:23124896 PMID:23298310 PMID:23919827 PMID:25741868 PMID:26387786 PMID:27316748 PMID:28492532 PMID:30260738 PMID:32581362 More...
NCBI chr15:101,026,403...101,043,217
Ensembl chr15:101,026,403...101,043,217
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Eng
endoglin
IMP ISO
ClinVar Annotator: match by term: Spontaneous, recurrent epistaxis
ClinVar RGD
PMID:15879500 PMID:16542389 PMID:28492532 PMID:30251589 PMID:10562296
RGD:11041563
NCBI chr 2:32,536,607...32,572,681
Ensembl chr 2:32,536,607...32,572,681
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Gstt1
glutathione S-transferase, theta 1
susceptibility
ISO
DNA:deletion:cds (human)
RGD
PMID:18066575
RGD:7794809
NCBI chr10:75,619,647...75,634,418
Ensembl chr10:75,619,647...75,634,418
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Apc
APC, WNT signaling pathway regulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24430131
NCBI chr18:34,353,350...34,455,243
Ensembl chr18:34,353,977...34,455,605
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Avp
arginine vasopressin
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:6983645
NCBI chr 2:130,422,540...130,424,508
Ensembl chr 2:130,422,540...130,424,474
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Bax
BCL2-associated X protein
treatment
ISO
RGD
PMID:24058648
RGD:10058975
NCBI chr 7:45,111,124...45,116,332
Ensembl chr 7:45,111,121...45,116,322
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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:15095295 PMID:15122511 PMID:15466005 PMID:15488637 PMID:15492928 PMID:15520402 PMID:16257342 PMID:16492927 PMID:16880452 PMID:17085682 PMID:18172190 PMID:18759107 PMID:19338683 PMID:19768534 PMID:19805189 PMID:21779515 PMID:21807500 PMID:21876083 PMID:21956126 PMID:22006311 PMID:22058428 PMID:22419737 PMID:22811390 PMID:22994785 PMID:23109706 PMID:23329222 PMID:23415889 PMID:23469205 PMID:23652375 PMID:23946381 PMID:24033266 PMID:24713400 PMID:24723567 PMID:24884479 PMID:25431674 PMID:25583358 PMID:25741868 PMID:26084796 PMID:26332814 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:27711073 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:29146883 PMID:29351919 PMID:29489754 PMID:29522266 PMID:29909568 PMID:31300551 PMID:31993860 PMID:32119081 PMID:32285038 PMID:32295079 PMID:32383162 PMID:32531112 PMID:32805687 PMID:36222830 PMID:37055167 PMID:37149759 More...
NCBI chr 5:110,987,668...111,022,006
Ensembl chr 5:110,987,845...111,022,011
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Csf2
colony stimulating factor 2 (granulocyte-macrophage)
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11732872
NCBI chr11:54,138,096...54,140,725
Ensembl chr11:54,138,097...54,140,493
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Cyp2c38
cytochrome P450, family 2, subfamily c, polypeptide 38
susceptibility
ISO
associated with Gastrointestinal Diseases; DNA:polymorphisms: :
RGD
PMID:25605208
RGD:124713539
NCBI chr19:39,379,109...39,451,519
Ensembl chr19:39,378,000...39,451,519
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Flna
filamin, alpha
ISO
ClinVar Annotator: match by term: Hematochezia
ClinVar
PMID:25741868 PMID:28492532 PMID:30755392
NCBI chr X:73,267,067...73,293,787
Ensembl chr X:73,267,067...73,293,426
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Ltf
lactotransferrin
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:15651117
NCBI chr 9:110,848,360...110,871,834
Ensembl chr 9:110,848,339...110,871,835
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Serpine1
serine (or cysteine) peptidase inhibitor, clade E, member 1
ISO
ClinVar Annotator: match by term: Gastrointestinal hemorrhage
ClinVar
PMID:25741868
NCBI chr 5:137,090,358...137,101,126
Ensembl chr 5:137,090,358...137,101,122
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Vwf
Von Willebrand factor
ISO
protein:increased expression: :
RGD
PMID:9790822
RGD:11080743
NCBI chr 6:125,529,911...125,663,642
Ensembl chr 6:125,523,737...125,663,642
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Ccl2
C-C motif chemokine ligand 2
IEP
associated with Hemophilia A;protein:increased expression:synovial fluid (mouse)
RGD
PMID:19444976
RGD:11528538
NCBI chr11:81,926,403...81,928,278
Ensembl chr11:81,926,397...81,928,279
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F8
coagulation factor VIII
treatment
ISO
RGD
PMID:31899798
RGD:150520060
NCBI chr X:74,213,950...74,426,342
Ensembl chr X:74,216,321...74,426,221
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Il6
interleukin 6
treatment
IDA
associated with Hemophilia A
RGD
PMID:23413986
RGD:11060150
NCBI chr 5:30,218,112...30,224,973
Ensembl chr 5:30,218,112...30,224,979
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Cd36
CD36 molecule
treatment
ISO IEP
associated with Cerebral Hemorrhage
RGD
PMID:24808360 PMID:24808360
RGD:11040930 , RGD:11040930
NCBI chr 5:17,986,680...18,093,828
Ensembl chr 5:17,986,688...18,093,799
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S100b
S100 protein, beta polypeptide, neural
ISO
associated with Stroke;protein:increased expression:serum CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:19027832 PMID:19147496
RGD:5508832
NCBI chr10:76,089,670...76,097,153
Ensembl chr10:76,089,687...76,096,993
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Aspg
asparaginase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:2187653
NCBI chr12:112,073,117...112,094,007
Ensembl chr12:112,073,113...112,093,993
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C3
complement component 3
ISO
protein:increased expression:renal arteriole:
RGD
PMID:10955930
RGD:7183083
NCBI chr17:57,510,967...57,535,136
Ensembl chr17:57,510,970...57,535,136
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Col4a3
collagen, type IV, alpha 3
ISO
ClinVar Annotator: match by term: Hematuria | ClinVar Annotator: match by term: Macroscopic hematuria
ClinVar RGD
PMID:8956999 PMID:16199547 PMID:24052634 PMID:24854265 PMID:25307543 PMID:25741868 PMID:26633401 PMID:26809805 PMID:27281700 PMID:27904025 PMID:28492532 PMID:28780565 PMID:30586318 PMID:19357112 More...
RGD:7242047
NCBI chr 1:82,564,647...82,699,778
Ensembl chr 1:82,564,642...82,699,780
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Col4a4
collagen, type IV, alpha 4
ISO
ClinVar Annotator: match by term: Hematuria
ClinVar RGD
PMID:24052634 PMID:24854265 PMID:25741868 PMID:26809805 PMID:28492532 PMID:28632965 PMID:28844315 PMID:33772369 PMID:34746741 PMID:35759000 PMID:19357112 More...
RGD:7242047
NCBI chr 1:82,426,140...82,564,570
Ensembl chr 1:82,426,144...82,564,570
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Col4a5
collagen, type IV, alpha 5
onset
ISO
ClinVar Annotator: match by term: Hematuria
ClinVar RGD
PMID:9150741 PMID:11223851 PMID:12028435 PMID:12796257 PMID:14514738 PMID:14604828 PMID:18083113 PMID:19919694 PMID:19965530 PMID:20130921 PMID:20301386 PMID:20378821 PMID:21505094 PMID:21848006 PMID:24046192 PMID:25741868 PMID:26467025 PMID:27627812 PMID:28492532 PMID:29144512 PMID:29526710 PMID:30311386 PMID:31027891 PMID:34675305 More...
RGD:329845598
NCBI chr X:140,258,367...140,472,232
Ensembl chr X:140,258,381...140,472,230
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Cyp1a1
cytochrome P450, family 1, subfamily a, polypeptide 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29027484
NCBI chr 9:57,595,211...57,611,107
Ensembl chr 9:57,595,211...57,611,107
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F7
coagulation factor VII
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:17133240
NCBI chr 8:13,075,499...13,085,809
Ensembl chr 8:13,076,034...13,085,809
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Fos
FBJ osteosarcoma oncogene
treatment
ISO
RGD
PMID:22634839
RGD:7242178
NCBI chr12:85,520,664...85,524,048
Ensembl chr12:85,520,664...85,524,047
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Lama5
laminin, alpha 5
ISO
ClinVar Annotator: match by term: Macroscopic hematuria
ClinVar
PMID:25741868
NCBI chr 2:179,818,166...179,867,652
Ensembl chr 2:179,818,166...179,867,652
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Lmx1b
LIM homeobox transcription factor 1 beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19147669
NCBI chr 2:33,450,977...33,531,219
Ensembl chr 2:33,450,977...33,530,620
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Plau
plasminogen activator, urokinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8225663
NCBI chr14:20,886,730...20,893,456
Ensembl chr14:20,886,728...20,893,453
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Pomc
pro-opiomelanocortin-alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:1267567 PMID:1324751
NCBI chr12:4,004,945...4,010,643
Ensembl chr12:4,004,951...4,010,642
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F8
coagulation factor VIII
treatment
ISO
RGD
PMID:27060449
RGD:150520059
NCBI chr X:74,213,950...74,426,342
Ensembl chr X:74,216,321...74,426,221
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Adm
adrenomedullin
treatment
ISO
RGD
PMID:18403050 PMID:15973109
RGD:7364987 , RGD:7364990
NCBI chr 7:110,226,864...110,229,027
Ensembl chr 7:110,226,868...110,229,027
G
Aldh1a7
aldehyde dehydrogenase family 1, subfamily A7
severity
ISO
RGD
PMID:23810746 PMID:21643955
RGD:14367884 , RGD:14367885
NCBI chr19:20,670,318...20,704,920
Ensembl chr19:20,670,317...20,704,926
G
Angpt1
angiopoietin 1
ISO
RGD
PMID:18344375
RGD:2316067
NCBI chr15:42,288,063...42,540,373
Ensembl chr15:42,288,119...42,540,373
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Arg2
arginase type II
ISO
protein:increased expression:aorta (rat)
RGD
PMID:20699748
RGD:4143274
NCBI chr12:79,177,562...79,203,075
Ensembl chr12:79,177,551...79,203,075
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Bad
BCL2-associated agonist of cell death
ISO
protein:decreased serine phosphorylation:lung
RGD
PMID:15345971
RGD:2292699
NCBI chr19:6,919,229...6,929,273
Ensembl chr19:6,919,229...6,929,267
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Bcl2
B cell leukemia/lymphoma 2
ISO
mRNA:increased expression:intestine
RGD
PMID:17693937
RGD:2293072
NCBI chr 1:106,465,906...106,642,020
Ensembl chr 1:106,465,908...106,642,004
G
Bcl2l1
BCL2-like 1
ISO
protein:increased expression:liver, mitochondrion
RGD
PMID:17224795
RGD:1643525
NCBI chr 2:152,600,652...152,673,632
Ensembl chr 2:152,622,588...152,673,648
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Casp3
caspase 3
ISO
associated with Brain Injuries, Traumatic
RGD
PMID:29061477
RGD:13782298
NCBI chr 8:47,070,326...47,092,733
Ensembl chr 8:47,070,326...47,092,724
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Casp8
caspase 8
ISO
associated with Brain Injuries, Traumatic
RGD
PMID:29061477
RGD:13782298
NCBI chr 1:58,834,553...58,886,663
Ensembl chr 1:58,834,533...58,886,662
G
Cfh
complement component factor h
treatment
ISO
RGD
PMID:18403050 PMID:18496585 PMID:15973109
RGD:7364987 , RGD:11041173 , RGD:7364990
NCBI chr 1:140,013,593...140,111,149
Ensembl chr 1:140,012,446...140,111,502
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Cnr1
cannabinoid receptor 1
ISO
mRNA, protein:increased expression:aorta, mesenteric artery
RGD
PMID:19493421
RGD:2314664
NCBI chr 4:33,923,171...33,948,831
Ensembl chr 4:33,924,593...33,948,831
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Cul5
cullin 5
ISO
mRNA:altered expression:brain
RGD
PMID:12635525
RGD:2301433
NCBI chr 9:53,525,881...53,578,807
Ensembl chr 9:53,525,882...53,581,314
G
Cxcl1
C-X-C motif chemokine ligand 1
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:21192278 PMID:21168948
RGD:5128673
NCBI chr 5:91,039,104...91,040,980
Ensembl chr 5:91,039,100...91,040,974
G
Cxcl2
C-X-C motif chemokine ligand 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21192278
NCBI chr 5:91,051,758...91,053,797
Ensembl chr 5:91,051,730...91,053,797
G
Cxcl3
C-X-C motif chemokine ligand 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21192278
NCBI chr 5:90,933,960...90,935,952
Ensembl chr 5:90,933,962...90,937,459
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Epo
erythropoietin
treatment
ISO
RGD
PMID:20539178
RGD:10401059
NCBI chr 5:137,481,282...137,484,078
Ensembl chr 5:137,481,282...137,531,504
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Esr1
estrogen receptor 1 (alpha)
severity
ISO
RGD
PMID:20195535
RGD:4892252
NCBI chr10:4,561,989...4,955,633
Ensembl chr10:4,561,593...4,955,614
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Esr2
estrogen receptor 2 (beta)
ISO
RGD
PMID:16859701
RGD:8694176
NCBI chr12:76,167,193...76,224,033
Ensembl chr12:76,167,193...76,224,033
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F2
coagulation factor II
ISO
protein:decreased activity:blood (rat)
RGD
PMID:21550061
RGD:5132267
NCBI chr 2:91,442,742...91,466,799
Ensembl chr 2:91,455,665...91,466,759
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F8
coagulation factor VIII
ISO
protein:decreased expression:plasma
RGD
PMID:15748447
RGD:10450768
NCBI chr X:74,213,950...74,426,342
Ensembl chr X:74,216,321...74,426,221
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Gfer
growth factor, augmenter of liver regeneration
IEP
RGD
PMID:23073658
RGD:9685733
NCBI chr17:24,912,164...24,915,065
Ensembl chr17:24,912,161...24,915,130
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Gja1
gap junction protein, alpha 1
ISO
RGD
PMID:19077877
RGD:7207423
NCBI chr10:56,253,297...56,266,519
Ensembl chr10:56,253,426...56,278,609
G
Gja5
gap junction protein, alpha 5
ISO
RGD
PMID:19077877
RGD:7207423
NCBI chr 3:96,939,718...96,960,950
Ensembl chr 3:96,812,009...96,984,732
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Glul
glutamate-ammonia ligase
treatment
ISO
RGD
PMID:12766648
RGD:401794596
NCBI chr 1:153,775,692...153,785,469
Ensembl chr 1:153,775,690...153,785,469
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Gpt
glutamic pyruvic transaminase, soluble
treatment
ISO
RGD
PMID:16141011
RGD:401717565
NCBI chr15:76,580,926...76,583,875
Ensembl chr15:76,579,916...76,583,886
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Hmox1
heme oxygenase 1
severity
ISO
RGD
PMID:20514418 PMID:20819606
RGD:10755719 , RGD:10755727
NCBI chr 8:75,820,246...75,827,221
Ensembl chr 8:75,820,249...75,827,217
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Hp
haptoglobin
ISO
RGD
PMID:20016403
RGD:5147418
NCBI chr 8:110,301,760...110,305,804
Ensembl chr 8:110,301,760...110,305,804
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Hspa1a
heat shock protein 1A
ISO
mRNA:increased expression:liver
RGD
PMID:22266570
RGD:7257601
NCBI chr17:35,188,335...35,191,132
Ensembl chr17:35,188,166...35,191,132
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Icam1
intercellular adhesion molecule 1
IEP ISO
mRNA, protein:increased expression:lung (mouse) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:21192278 PMID:19828841
RGD:4145497
NCBI chr 9:20,927,236...20,940,110
Ensembl chr 9:20,927,281...20,940,113
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Ifng
interferon gamma
ISO
protein:increased expression:plasma
RGD
PMID:19439114
RGD:2311495
NCBI chr10:118,276,951...118,281,799
Ensembl chr10:118,276,951...118,281,797
G
Il10
interleukin 10
ISO
protein:increased expression:serum, lymph
RGD
PMID:19160132
RGD:2311060
NCBI chr 1:130,947,459...130,952,707
Ensembl chr 1:130,947,582...130,952,711
G
Il18
interleukin 18
IEP
protein:increased expression:plasma
RGD
PMID:23589298
RGD:14695541
NCBI chr 9:50,466,000...50,493,141
Ensembl chr 9:50,466,127...50,493,140
G
Il1a
interleukin 1 alpha
ISO
mRNA:increased expression:lung
RGD
PMID:15580020
RGD:2311100
NCBI chr 2:129,141,530...129,151,892
Ensembl chr 2:129,141,530...129,151,892
G
Il1b
interleukin 1 beta
severity
ISO
mRNA:increased expression:lung protein:increased expression:kidney, serum (rat)
RGD
PMID:17545943 PMID:21336199 PMID:15580020
RGD:1626655 , RGD:7175325 , RGD:2311100
NCBI chr 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059
G
Il4
interleukin 4
treatment
ISO
RGD
PMID:24986445
RGD:10402801
NCBI chr11:53,503,287...53,509,492
Ensembl chr11:53,493,809...53,509,496
G
Il6
interleukin 6
ISO
protein:increased expression:plasma CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:21192278 PMID:21168948
RGD:5128673
NCBI chr 5:30,218,112...30,224,973
Ensembl chr 5:30,218,112...30,224,979
G
Mapk1
mitogen-activated protein kinase 1
ISO
protein: increased expression: lung and liver
RGD
PMID:22392145
RGD:7244173
NCBI chr16:16,801,246...16,865,317
Ensembl chr16:16,801,246...16,865,317
G
Mmp9
matrix metallopeptidase 9
treatment
ISO
RGD
PMID:16141011
RGD:401717565
NCBI chr 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770
G
Mpo
myeloperoxidase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21192278
NCBI chr11:87,684,610...87,695,238
Ensembl chr11:87,684,407...87,695,239
G
Mtor
mechanistic target of rapamycin kinase
treatment
ISO
RGD
PMID:24204984
RGD:10041042
NCBI chr 4:148,533,039...148,642,142
Ensembl chr 4:148,533,068...148,642,140
G
Myc
myelocytomatosis oncogene
treatment
ISO
RGD
PMID:22113495
RGD:7240568
NCBI chr15:61,857,190...61,862,210
Ensembl chr15:61,857,240...61,862,223
G
Nfkbia
nuclear factor of kappa light polypeptide gene enhancer in B cells inhibitor, alpha
treatment
ISO
RGD
PMID:11557243
RGD:127285020
NCBI chr12:55,536,194...55,539,432
Ensembl chr12:55,536,195...55,539,432
G
Nos2
nitric oxide synthase 2, inducible
ISO
mRNA, protein:increased expression:multiple
RGD
PMID:15854664
RGD:1580937
NCBI chr11:78,811,613...78,851,052
Ensembl chr11:78,811,613...78,851,080
G
Nos3
nitric oxide synthase 3, endothelial cell
treatment
ISO
mRNA:increased expression: :multiple
RGD
PMID:15854664 PMID:29122552
RGD:1580937 , RGD:13450929
NCBI chr 5:24,569,772...24,589,472
Ensembl chr 5:24,569,808...24,589,472
G
Otc
ornithine transcarbamylase
ISO
protein:increased activity:serum (rat)
RGD
PMID:17224795
RGD:1643525
NCBI chr X:10,118,584...10,187,275
Ensembl chr X:10,118,544...10,187,263
G
Rela
v-rel reticuloendotheliosis viral oncogene homolog A (avian)
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 chr19:5,686,993...5,698,162
Ensembl chr19:5,687,511...5,698,158
G
Sirt1
sirtuin 1
treatment
ISO
protein:decreased expression:heart left ventricle
RGD
PMID:22113495 PMID:21554952
RGD:7240568 , RGD:9585770
NCBI chr10:63,154,784...63,174,814
Ensembl chr10:63,154,784...63,217,483
G
Slc9a1
solute carrier family 9 (sodium/hydrogen exchanger), member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:17724433 PMID:19384202
RGD:6771334
NCBI chr 4:133,097,022...133,151,013
Ensembl chr 4:133,097,017...133,151,013
G
Sod2
superoxide dismutase 2, mitochondrial
treatment
ISO
RGD
PMID:26073907
RGD:26923954
NCBI chr17:13,226,726...13,237,006
Ensembl chr17:13,225,733...13,258,950
G
Tfam
transcription factor A, mitochondrial
ISO
RGD
PMID:22469910
RGD:6767567
NCBI chr10:71,061,298...71,074,157
Ensembl chr10:71,061,294...71,074,110
G
Tgfb1
transforming growth factor, beta 1
treatment
ISO
RGD
PMID:16141011
RGD:401717565
NCBI chr 7:25,386,406...25,404,503
Ensembl chr 7:25,386,427...25,404,502
G
Timp1
tissue inhibitor of metalloproteinase 1
treatment
ISO
RGD
PMID:16141011
RGD:401717565
NCBI chr X:20,736,524...20,740,972
Ensembl chr X:20,736,405...20,740,974
G
Tlr4
toll-like receptor 4
severity
IMP
RGD
PMID:25049041
RGD:14697700
NCBI chr 4:66,745,788...66,765,338
Ensembl chr 4:66,745,821...66,848,521
G
Tnf
tumor necrosis factor
treatment
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:21192278 PMID:24315526
RGD:10450602
NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983
G
Trem1
triggering receptor expressed on myeloid cells 1
ameliorates
ISO
RGD
PMID:19333144
RGD:127284838
NCBI chr17:48,539,763...48,553,955
Ensembl chr17:48,539,796...48,553,952
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Vwf
Von Willebrand factor
ISO
protein:decreased expression:plasma
RGD
PMID:15748447
RGD:10450768
NCBI chr 6:125,529,911...125,663,642
Ensembl chr 6:125,523,737...125,663,642
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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 chr11:105,858,774...105,880,790
Ensembl chr11:105,858,771...105,880,790
G
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 chr 8:125,283,326...125,296,445
Ensembl chr 8:125,283,273...125,296,445
G
C3
complement component 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:1353212
NCBI chr17:57,510,967...57,535,136
Ensembl chr17:57,510,970...57,535,136
G
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 chr11:81,926,403...81,928,278
Ensembl chr11:81,926,397...81,928,279
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Cd86
CD86 antigen
treatment
ISO
protein:increased expression:venous blood, B cell (human)
RGD
PMID:27030970
RGD:11354986
NCBI chr16:36,389,318...36,486,439
Ensembl chr16:36,424,231...36,486,443
G
H2-Aa
histocompatibility 2, class II antigen A, alpha
susceptibility
ISO
DNA:polymorphisms:cds:HLA-DQA1*0301, HLA-DQA1*0302 (human)
RGD
PMID:11836690
RGD:5147830
NCBI chr17:34,501,718...34,506,797
Ensembl chr17:34,501,718...34,506,797
G
Hmox1
heme oxygenase 1
ISO
protein:increased expression:serum
RGD
PMID:20013271
RGD:10755701
NCBI chr 8:75,820,246...75,827,221
Ensembl chr 8:75,820,249...75,827,217
G
Igf1
insulin-like growth factor 1
ISO
protein:increased expression:serum
RGD
PMID:20013271
RGD:10755701
NCBI chr10:87,694,127...87,772,909
Ensembl chr10:87,694,127...87,772,904
G
Il1rn
interleukin 1 receptor antagonist
ISO
DNA:repeats:intron:IVS2+914_1000dup IL1RN*2 (human)
RGD
PMID:9186886
RGD:6909151
NCBI chr 2:24,226,872...24,241,503
Ensembl chr 2:24,226,865...24,241,506
G
Il27
interleukin 27
ISO
mRNA,protein:decreased expression:peripheral blood mononuclear cell, blood serum (human)"
RGD
PMID:33280050
RGD:126790550
NCBI chr 7:126,188,181...126,194,197
Ensembl chr 7:126,188,182...126,194,113
G
Il5
interleukin 5
ISO
protein:increased expression:serum
RGD
PMID:16787590
RGD:11354946
NCBI chr11:53,611,621...53,615,930
Ensembl chr11:53,611,621...53,615,933
G
Kng1
kininogen 1
ISO
protein:increased expression:serum
RGD
PMID:26098644
RGD:11059888
NCBI chr16:22,876,970...22,900,828
Ensembl chr16:22,876,615...22,900,828
G
Kng2
kininogen 2
ISO
protein:increased expression:serum
RGD
PMID:26098644
RGD:11059888
NCBI chr16:22,804,602...22,847,851
Ensembl chr16:22,804,604...22,848,232
G
Mefv
Mediterranean fever
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 chr16:3,524,838...3,536,073
Ensembl chr16:3,525,082...3,535,961
G
Plat
plasminogen activator, tissue
ISO
protein:increased expression:plasma (human)
RGD
PMID:9543574
RGD:11541055
NCBI chr 8:23,247,655...23,272,864
Ensembl chr 8:23,247,743...23,272,860
G
Plau
plasminogen activator, urokinase
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:9002298 PMID:12671112
NCBI chr14:20,886,730...20,893,456
Ensembl chr14:20,886,728...20,893,453
G
Pon1
paraoxonase 1
susceptibility
ISO
DNA:missense mutations:cds:p.L55M, p.Q192R (human)
RGD
PMID:19967651
RGD:11552576
NCBI chr 6:5,168,101...5,193,824
Ensembl chr 6:5,168,090...5,193,946
G
Fcgr4
Fc receptor, IgG, low affinity IV
susceptibility
ISO
DNA:SNP:cds:p.V158F(human)
RGD
PMID:15191947
RGD:11040991
NCBI chr 1:170,846,495...170,857,330
Ensembl chr 1:170,846,489...170,857,330
G
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 chr 1:130,947,459...130,952,707
Ensembl chr 1:130,947,582...130,952,711
G
Col4a1
collagen, type IV, alpha 1
ISO
ClinVar Annotator: match by term: Intracranial Hemorrhages
ClinVar
PMID:7695699 PMID:8218237 PMID:9016532 PMID:16598045 PMID:17078022 PMID:17938367 PMID:19344236 PMID:22102590 PMID:25741868 PMID:26362372 PMID:28492532 PMID:31857254 PMID:32033901 More...
NCBI chr 8:11,248,423...11,362,889
Ensembl chr 8:11,248,423...11,362,826
G
F7
coagulation factor VII
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:15595332 PMID:16159073 PMID:18617125 PMID:20172985 PMID:20522813
NCBI chr 8:13,075,499...13,085,809
Ensembl chr 8:13,076,034...13,085,809
G
Hbb-b1
hemoglobin, beta adult major chain
ISO
mRNA:increased expression:basal ganglion, neuron, glial cell
RGD
PMID:21725744
RGD:10449050
G
Hspb1
heat shock protein 1
ISO
protein:increased expression:brain:
RGD
PMID:15472083
RGD:10402769
NCBI chr 5:135,916,773...135,918,417
Ensembl chr 5:135,916,773...135,918,417
G
Il6
interleukin 6
susceptibility
ISO
DNA:polymorphism:promoter -174G>C(human)
RGD
PMID:15331795
RGD:12792203
NCBI chr 5:30,218,112...30,224,973
Ensembl chr 5:30,218,112...30,224,979
G
Nos3
nitric oxide synthase 3, endothelial cell
treatment
ISO
RGD
PMID:29203281
RGD:13504724
NCBI chr 5:24,569,772...24,589,472
Ensembl chr 5:24,569,808...24,589,472
G
Nsd2
nuclear receptor binding SET domain protein 2
ISO
ClinVar Annotator: match by term: Intracranial Hemorrhages
ClinVar
PMID:25741868
NCBI chr 5:33,974,286...34,055,310
Ensembl chr 5:33,978,069...34,055,319
G
Plat
plasminogen activator, tissue
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 More...
NCBI chr 8:23,247,655...23,272,864
Ensembl chr 8:23,247,743...23,272,860
G
Plau
plasminogen activator, urokinase
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:10392865 PMID:10472989 PMID:10512912 PMID:17308290 PMID:21779364
RGD:6484131
NCBI chr14:20,886,730...20,893,456
Ensembl chr14:20,886,728...20,893,453
G
Ppp1r1b
protein phosphatase 1, regulatory inhibitor subunit 1B
ISO
RGD
PMID:23543809
RGD:13515075
NCBI chr11:98,239,232...98,248,622
Ensembl chr11:98,239,230...98,248,622
G
Psen1
presenilin 1
IMP
RGD
PMID:9160754
RGD:1302520
NCBI chr12:83,734,926...83,781,869
Ensembl chr12:83,734,926...83,781,973
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Serping1
serine (or cysteine) peptidase inhibitor, clade G, member 1
treatment
ISO
associated with Stroke
RGD
PMID:21779364
RGD:6484131
NCBI chr 2:84,595,704...84,605,748
Ensembl chr 2:84,595,731...84,605,788
G
Shoc2
Shoc2, leucine rich repeat scaffold protein
ISO
mRNA:decreased expression:brain:
RGD
PMID:34368865
RGD:155804268
NCBI chr19:53,932,018...54,021,711
Ensembl chr19:53,932,737...54,021,564
G
Slc23a1
solute carrier family 23 (nucleobase transporters), member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11984597
NCBI chr18:35,747,657...35,762,900
Ensembl chr18:35,747,657...35,760,297
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Tnf
tumor necrosis factor
ISO
RGD
PMID:16322490
RGD:1580310
NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983
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Trf
transferrin
ISO
associated with Iron-Deficiency Anemia;protein:increased expression:basal ganglia
RGD
PMID:16671451
RGD:1601537
NCBI chr 9:103,086,075...103,107,485
Ensembl chr 9:103,081,200...103,107,643
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Ubiad1
UbiA prenyltransferase domain containing 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23533172
NCBI chr 4:148,518,952...148,529,217
Ensembl chr 4:148,518,952...148,529,228
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Gp6
glycoprotein 6 platelet
exacerbates
IMP
RGD
PMID:21258336
RGD:401824683
NCBI chr 7:4,365,852...4,400,849
Ensembl chr 7:4,366,964...4,400,743
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Mdm2
transformed mouse 3T3 cell double minute 2
treatment
ISO
RGD
PMID:34334113
RGD:155882538
NCBI chr10:117,524,780...117,546,663
Ensembl chr10:117,524,780...117,546,663
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Zeb2
zinc finger E-box binding homeobox 2
treatment
ISO
protein:increased expression:brain (rat)
RGD
PMID:34334113 PMID:34334113
RGD:155882538 , RGD:155882538
NCBI chr 2:44,873,523...45,007,378
Ensembl chr 2:44,873,644...45,007,407
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Bace1
beta-site APP cleaving enzyme 1
ISO
protein:increased expression:hippocampus
RGD
PMID:30028260
RGD:13782136
NCBI chr 9:45,749,878...45,775,694
Ensembl chr 9:45,749,878...45,775,697
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Col4a1
collagen, type IV, alpha 1
ISO
ClinVar Annotator: match by term: Intraventricular hemorrhage
ClinVar
PMID:7695699 PMID:8218237 PMID:9016532 PMID:16598045 PMID:17078022 PMID:17938367 PMID:19344236 PMID:22102590 PMID:25741868 PMID:26362372 PMID:28492532 PMID:31857254 PMID:32033901 More...
NCBI chr 8:11,248,423...11,362,889
Ensembl chr 8:11,248,423...11,362,826
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Col4a2
collagen, type IV, alpha 2
ISO
ClinVar Annotator: match by term: Intraventricular hemorrhage
ClinVar
PMID:25741868 PMID:33527515
NCBI chr 8:11,362,878...11,499,287
Ensembl chr 8:11,362,805...11,499,287
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Il6
interleukin 6
ISO
associated with Premature Birth;protein:increased expression:serum:
RGD
PMID:22906886
RGD:12792208
NCBI chr 5:30,218,112...30,224,973
Ensembl chr 5:30,218,112...30,224,979
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Agt
angiotensinogen
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20824505
NCBI chr 8:125,283,326...125,296,445
Ensembl chr 8:125,283,273...125,296,445
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Cyp2c65
cytochrome P450, family 2, subfamily c, polypeptide 65
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17681167
NCBI chr19:39,049,450...39,082,392
Ensembl chr19:39,049,459...39,082,388
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Crh
corticotropin releasing hormone
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12699433 PMID:12699434
NCBI chr 3:19,747,565...19,749,560
Ensembl chr 3:19,747,565...19,749,560
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Gp6
glycoprotein 6 platelet
ISO
DNA:insertion:exon 6:c.711_712insA (human) CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Platelet-type bleeding disorder 11
OMIM CTD ClinVar RGD
PMID:19549989 PMID:19552682 PMID:23815599 PMID:25741868 PMID:28492532 PMID:29232918 PMID:32935436 PMID:23815599 More...
RGD:401794132
NCBI chr 7:4,365,852...4,400,849
Ensembl chr 7:4,366,964...4,400,743
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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 chr17:84,965,602...84,990,439
Ensembl chr17:84,965,662...84,990,439
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Tbxa2r
thromboxane A2 receptor
susceptibility
IMP ISO
ClinVar Annotator: match by term: BLEEDING DISORDER, SUSCEPTIBILITY TO, DUE TO DEFECTIVE PLATELET THROMBOXANE A2 RECEPTOR | ClinVar Annotator: match by term: Bleeding disorder, platelet-type, 13, susceptibility to | ClinVar Annotator: match by term: Impaired thromboxane A2 agonist-induced platelet aggregation CTD Direct Evidence: marker/mechanism
ClinVar CTD OMIM RGD
PMID:2955539 PMID:7929844 PMID:8428006 PMID:8613548 PMID:19828703 PMID:22517902 PMID:25741868 PMID:28492532 PMID:31064749 PMID:9835625 More...
RGD:11059528
NCBI chr10:81,164,102...81,171,008
Ensembl chr10:81,164,565...81,171,006
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Actn1
actinin, alpha 1
ISO
ClinVar Annotator: match by term: ACTN1-related condition | ClinVar Annotator: match by term: Platelet-type bleeding disorder 15 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:9536098 PMID:17576681 PMID:23434115 PMID:24069336 PMID:25361813 PMID:25741868 PMID:25949529 PMID:26453073 PMID:26879394 PMID:28492532 PMID:28562514 PMID:30351444 PMID:31064749 PMID:31237726 PMID:31365757 PMID:32478077 PMID:32581362 PMID:34355501 More...
NCBI chr12:80,214,316...80,307,165
Ensembl chr12:80,214,321...80,307,145
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Fli1
Friend leukemia integration 1
ISO
ClinVar Annotator: match by term: Bleeding disorder platelet type macrothrombocytopenia
ClinVar
PMID:23809206 PMID:26316623
NCBI chr 9:32,333,500...32,454,292
Ensembl chr 9:32,333,500...32,454,157
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Rasgrp2
RAS, guanyl releasing protein 2
ISO
ClinVar Annotator: match by term: Platelet-type bleeding disorder 18 | ClinVar Annotator: match by term: RASGRP2-related condition CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:24958846 PMID:25741868 PMID:27235135 PMID:27663674 PMID:28492532 PMID:28637664 PMID:28960434 PMID:28983057 PMID:30046681 PMID:31064749 PMID:32581362 PMID:33711653 PMID:34355501 More...
NCBI chr19:6,449,038...6,465,243
Ensembl chr19:6,449,370...6,465,246
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Slfn14
schlafen 14
ISO
ClinVar Annotator: match by term: Platelet-type bleeding disorder 20 | ClinVar Annotator: match by term: SLFN14-related condition CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:25741868 PMID:26280575 PMID:26769223 PMID:28492532 PMID:29678925 PMID:32581362 PMID:36790527 More...
NCBI chr11:83,165,936...83,177,552
Ensembl chr11:83,165,936...83,177,552
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Fli1
Friend leukemia integration 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Bleeding disorder, platelet-type, 21
OMIM CTD ClinVar
PMID:23809206 PMID:24100448 PMID:25741868 PMID:26316623 PMID:28255014 PMID:28492532 PMID:31064749 PMID:32581362 PMID:32987389 PMID:34355501 More...
NCBI chr 9:32,333,500...32,454,292
Ensembl chr 9:32,333,500...32,454,157
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Med12l
mediator complex subunit 12-like
ISO
ClinVar Annotator: match by term: Impaired ADP-induced platelet aggregation | ClinVar Annotator: match by term: Platelet-type bleeding disorder 8
ClinVar
PMID:7706468 PMID:11196645 PMID:12578987 PMID:20966167 PMID:25741868 PMID:28492532 PMID:29117459 PMID:31064749 PMID:32100410 More...
NCBI chr 3:58,912,820...59,225,867
Ensembl chr 3:58,913,246...59,226,103
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P2ry12
purinergic receptor P2Y, G-protein coupled 12
ISO IAGP
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Impaired ADP-induced platelet aggregation | ClinVar Annotator: match by term: Platelet-type bleeding disorder 8 OMIM:609821
OMIM CTD ClinVar MouseDO
PMID:7706468 PMID:11196645 PMID:12578987 PMID:20966167 PMID:25741868 PMID:28492532 PMID:29117459 PMID:31064749 PMID:32100410 More...
NCBI chr 3:59,123,692...59,170,408
Ensembl chr 3:59,123,693...59,170,292
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Itga2
integrin alpha 2
ISO
ClinVar Annotator: match by term: COLLAGEN PLATELET RECEPTOR DEFICIENCY | ClinVar Annotator: match by term: Platelet-type bleeding disorder 9
ClinVar
PMID:19500323 PMID:22862885 PMID:23368983 PMID:25741868 PMID:28492532
NCBI chr13:114,969,617...115,068,588
Ensembl chr13:114,969,617...115,068,636
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Mocs2
molybdenum cofactor synthesis 2
ISO
ClinVar Annotator: match by term: COLLAGEN PLATELET RECEPTOR DEFICIENCY | ClinVar Annotator: match by term: Platelet-type bleeding disorder 9
ClinVar
NCBI chr13:114,954,707...114,965,960
Ensembl chr13:114,954,772...114,968,811
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Itgb3
integrin beta 3
ISO
ClinVar Annotator: match by term: PEN(a)/PEN(b) ALLOANTIGEN POLYMORPHISM
ClinVar OMIM
PMID:1430225 PMID:9787162 PMID:14516468 PMID:21658138 PMID:25741868 PMID:28492532 More...
NCBI chr11:104,498,826...104,561,302
Ensembl chr11:104,498,826...104,561,302
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Cnot1
CCR4-NOT transcription complex, subunit 1
ISO
ClinVar Annotator: match by term: Preterm intraventricular hemorrhage
ClinVar
PMID:25741868
NCBI chr 8:96,445,559...96,534,741
Ensembl chr 8:96,446,079...96,534,092
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Gsn
gelsolin
IEP
protein:decreased expression:blood plasma (human)
RGD
PMID:28755273
RGD:329337382
NCBI chr 2:35,146,371...35,197,914
Ensembl chr 2:35,146,392...35,197,904
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Sema6b
sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B
ISO
ClinVar Annotator: match by term: Grade I preterm intraventricular hemorrhage
ClinVar
PMID:31474318
NCBI chr17:56,430,085...56,447,343
Ensembl chr17:56,430,085...56,447,343
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Elane
elastase, neutrophil expressed
ISO
associated with Pancreatitis, Experimental, sepsis;
RGD
PMID:7587785
RGD:10450559
NCBI chr10:79,722,146...79,724,050
Ensembl chr10:79,722,081...79,724,049
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Psen2
presenilin 2
IMP
RGD
PMID:10518543
RGD:1302521
NCBI chr 1:180,054,569...180,091,030
Ensembl chr 1:180,054,569...180,091,003
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Il13
interleukin 13
susceptibility
ISO
associated withe Sjogren's Syndrome;DNA:SNP:cds:2044 G>A(human)
RGD
PMID:16166103
RGD:11528572
NCBI chr11:53,522,150...53,525,529
Ensembl chr11:53,522,151...53,525,529
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Proc
protein C
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18376272
NCBI chr18:32,256,179...32,272,623
Ensembl chr18:32,256,179...32,272,623
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Col4a1
collagen, type IV, alpha 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Retinal arterial tortuosity | ClinVar Annotator: match by term: Retinal arteries, tortuosity of
CTD ClinVar OMIM
PMID:3691802 PMID:7695699 PMID:8218237 PMID:9016532 PMID:9536098 PMID:9724608 PMID:16199547 PMID:17078022 PMID:17576681 PMID:19344236 PMID:20818663 PMID:22574627 PMID:22914737 PMID:23225343 PMID:24374867 PMID:24628545 PMID:25228067 PMID:25457163 PMID:25741868 PMID:26310487 PMID:26467025 PMID:28492532 PMID:30653986 PMID:31051113 PMID:31069529 PMID:31230195 PMID:31719132 PMID:33353976 PMID:33527515 PMID:35711275 More...
NCBI chr 8:11,248,423...11,362,889
Ensembl chr 8:11,248,423...11,362,826
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Kat6b
K(lysine) acetyltransferase 6B
ISO
ClinVar Annotator: match by term: Retinal arterial tortuosity
ClinVar
PMID:25741868
NCBI chr14:21,549,284...21,722,546
Ensembl chr14:21,531,502...21,722,546
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Plat
plasminogen activator, tissue
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10914357 PMID:12227717
NCBI chr 8:23,247,655...23,272,864
Ensembl chr 8:23,247,743...23,272,860
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Abcc8
ATP-binding cassette, sub-family C member 8
treatment
ISO
RGD
PMID:24114458
RGD:10003028
NCBI chr 7:45,753,952...45,829,441
Ensembl chr 7:45,753,947...45,829,457
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Adipoq
adiponectin, C1Q and collagen domain containing
ISO
protein:increased expression:cerebrospinal fluid
RGD
PMID:22230897
RGD:8695949
NCBI chr16:22,965,286...22,976,718
Ensembl chr16:22,965,286...22,976,778
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Adora1
adenosine A1 receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18950269
NCBI chr 1:134,126,953...134,163,195
Ensembl chr 1:134,126,963...134,163,169
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Ager
advanced glycosylation end product-specific receptor
ISO
mRNA, protein:increased expression:brain
RGD
PMID:24291745
RGD:8696000
NCBI chr17:34,816,545...34,819,911
Ensembl chr17:34,816,836...34,819,910
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Aif1
allograft inflammatory factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27157545
NCBI chr17:35,389,967...35,394,977
Ensembl chr17:35,389,967...35,395,044
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Apoe
apolipoprotein E
ISO
GAD
PMID:15118671
RGD:1331525
NCBI chr 7:19,430,169...19,434,326
Ensembl chr 7:19,430,034...19,433,113
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Aqp4
aquaporin 4
exacerbates
ISO
mRNA:increased expression:brain:
RGD
PMID:33574749 PMID:33574749
RGD:127284879 , RGD:127284879
NCBI chr18:15,522,451...15,544,039
Ensembl chr18:15,522,553...15,544,039
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Bcl2
B cell leukemia/lymphoma 2
treatment
ISO
RGD
PMID:26163325
RGD:13782347
NCBI chr 1:106,465,906...106,642,020
Ensembl chr 1:106,465,908...106,642,004
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Becn1
beclin 1, autophagy related
ISO
protein:increased expression:brain
RGD
PMID:22521819
RGD:6483046
NCBI chr11:101,179,084...101,193,112
Ensembl chr11:101,176,778...101,193,112
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Bnip3
BCL2/adenovirus E1B interacting protein 3
treatment
ISO
RGD
PMID:23850688
RGD:11561986
NCBI chr 7:138,492,565...138,511,235
Ensembl chr 7:138,492,565...138,511,248
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C3
complement component 3
treatment
ISO
RGD
PMID:26518242
RGD:11040780
NCBI chr17:57,510,967...57,535,136
Ensembl chr17:57,510,970...57,535,136
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Casp3
caspase 3
treatment
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:24602480 PMID:26163325
RGD:13782347
NCBI chr 8:47,070,326...47,092,733
Ensembl chr 8:47,070,326...47,092,724
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Casp9
caspase 9
treatment
ISO
RGD
PMID:26163325
RGD:13782347
NCBI chr 4:141,520,923...141,543,289
Ensembl chr 4:141,520,923...141,543,287
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Ccl20
C-C motif chemokine ligand 20
ISO
mRNA:increased expression:cerebral artery
RGD
PMID:17977275
RGD:7488893
NCBI chr 1:83,094,487...83,096,888
Ensembl chr 1:83,094,487...83,096,888
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Cxcl1
C-X-C motif chemokine ligand 1
ISO
mRNA:increased expression:lung
RGD
PMID:20731855
RGD:4145368
NCBI chr 5:91,039,104...91,040,980
Ensembl chr 5:91,039,100...91,040,974
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Cybb
cytochrome b-245, beta polypeptide
ISO
Protein:increased expression:cerebral cortex mRNA:increased expression:cerebral vessel:
RGD
PMID:16671452 PMID:12142572
RGD:1599680 , RGD:11040582
NCBI chr X:9,301,493...9,354,005
Ensembl chr X:9,301,491...9,354,010
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Ddit3
DNA-damage inducible transcript 3
treatment
ISO
RGD
PMID:30226536
RGD:35316073
NCBI chr10:127,126,662...127,132,160
Ensembl chr10:127,126,643...127,132,157 Ensembl chr10:127,126,643...127,132,157
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Edn1
endothelin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8587695
NCBI chr13:42,454,952...42,461,466
Ensembl chr13:42,454,952...42,461,466
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Ednrb
endothelin receptor type B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8587695
NCBI chr14:104,052,055...104,081,764
Ensembl chr14:104,052,061...104,081,838
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Epo
erythropoietin
treatment
ISO
RGD
PMID:23907045
RGD:10400909
NCBI chr 5:137,481,282...137,484,078
Ensembl chr 5:137,481,282...137,531,504
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Erbb4
erb-b2 receptor tyrosine kinase 4
treatment
ISO
RGD
PMID:28756200
RGD:151893490
NCBI chr 1:68,071,063...69,147,756
Ensembl chr 1:68,071,345...69,147,218
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Ern1
endoplasmic reticulum to nucleus signalling 1
treatment
ISO
RGD
PMID:29169414 PMID:30226536
RGD:34901873 , RGD:35316073
NCBI chr11:106,285,474...106,378,701
Ensembl chr11:106,285,476...106,378,678
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Esr1
estrogen receptor 1 (alpha)
ISO
protein:increased expression:dentate gyrus
RGD
PMID:23465388
RGD:8553242
NCBI chr10:4,561,989...4,955,633
Ensembl chr10:4,561,593...4,955,614
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Gli1
GLI-Kruppel family member GLI1
ISO
mRNA, protein:increased expression:brain
RGD
PMID:23933201
RGD:12859044
NCBI chr10:127,165,751...127,177,448
Ensembl chr10:127,165,751...127,177,843
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Gpx3
glutathione peroxidase 3
ISO
protein:increased expression:plasma
RGD
PMID:32326289
RGD:401827845
NCBI chr11:54,793,680...54,801,213
Ensembl chr11:54,793,279...54,801,203
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Gsk3b
glycogen synthase kinase 3 beta
treatment
ISO
RGD
PMID:27026509
RGD:13792767
NCBI chr16:37,909,363...38,066,446
Ensembl chr16:37,909,363...38,066,446
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Gsn
gelsolin
disease_progression severity
ISO
mRNA, protein:altered expression:cerebral cortex (rat) protein:decreased expression:blood plasma (human)
RGD
PMID:25744577 PMID:23880145
RGD:11055426 , RGD:329333027
NCBI chr 2:35,146,371...35,197,914
Ensembl chr 2:35,146,392...35,197,904
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Hcn1
hyperpolarization activated cyclic nucleotide gated potassium channel 1
ISO
mRNA,protein:decreased expression:hippocampus:
RGD
PMID:22378889
RGD:9686397
NCBI chr13:117,738,856...118,117,564
Ensembl chr13:117,738,856...118,123,954
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Hif1a
hypoxia inducible factor 1, alpha subunit
ISO
protein:increased expression:brain
RGD
PMID:15703702
RGD:1626323
NCBI chr12:73,948,186...73,994,304
Ensembl chr12:73,948,149...73,994,304
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Hmox1
heme oxygenase 1
ISO
mRNA:increased expression:subarachnoid space
RGD
PMID:16543643 PMID:14657544 PMID:19686725
RGD:1582702 , RGD:1598406 , RGD:4145300
NCBI chr 8:75,820,246...75,827,221
Ensembl chr 8:75,820,249...75,827,217
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Hspd1
heat shock protein 1 (chaperonin)
ISO
mRNA:increased expression:brain stem
RGD
PMID:14753490
RGD:1624246
NCBI chr 1:55,116,992...55,127,402
Ensembl chr 1:55,116,994...55,127,402
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Htr1b
5-hydroxytryptamine (serotonin) receptor 1B
ISO
RGD
PMID:17542534
RGD:1626451
NCBI chr 9:81,510,344...81,515,885
Ensembl chr 9:81,510,344...81,515,881
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Icam1
intercellular adhesion molecule 1
ISO
mRNA:increased expression:lung (rat)
RGD
PMID:20731855
RGD:4145368
NCBI chr 9:20,927,236...20,940,110
Ensembl chr 9:20,927,281...20,940,113
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Il1b
interleukin 1 beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27157545
NCBI chr 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059
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Il1rn
interleukin 1 receptor antagonist
ISO
rat model treated with human protein
RGD
PMID:22679224
RGD:7051590
NCBI chr 2:24,226,872...24,241,503
Ensembl chr 2:24,226,865...24,241,506
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Il6
interleukin 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27157545
NCBI chr 5:30,218,112...30,224,973
Ensembl chr 5:30,218,112...30,224,979
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Irf9
interferon regulatory factor 9
ameliorates
ISO
RGD
PMID:29480757
RGD:125093745
NCBI chr14:55,841,442...55,847,487
Ensembl chr14:55,841,028...55,847,487
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Kcnj10
potassium inwardly-rectifying channel, subfamily J, member 10
treatment
ISO
RGD
PMID:22420318
RGD:8662908
NCBI chr 1:172,168,777...172,201,652
Ensembl chr 1:172,168,777...172,201,652
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Lcn2
lipocalin 2
ameliorates
IMP
RGD
PMID:26463936
RGD:126781835
NCBI chr 2:32,274,649...32,277,751
Ensembl chr 2:32,274,645...32,278,264
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Map3k5
mitogen-activated protein kinase kinase kinase 5
treatment
ISO
RGD
PMID:30226536
RGD:35316073
NCBI chr10:19,809,847...20,018,496
Ensembl chr10:19,810,218...20,018,499
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Map3k7
mitogen-activated protein kinase kinase kinase 7
treatment
ISO
RGD
PMID:29273596
RGD:155804269
NCBI chr 4:31,963,659...32,023,470
Ensembl chr 4:31,964,097...32,023,467
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Mmp13
matrix metallopeptidase 13
ISO
RGD
PMID:16961140
RGD:1582545
NCBI chr 9:7,272,514...7,283,333
Ensembl chr 9:7,272,514...7,283,331
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Mmp1a
matrix metallopeptidase 1a (interstitial collagenase)
no_association
ISO
RGD
PMID:11546917
RGD:1582365
NCBI chr 9:7,464,141...7,476,870
Ensembl chr 9:7,464,141...7,476,857
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Mmp1b
matrix metallopeptidase 1b (interstitial collagenase)
no_association
ISO
RGD
PMID:11546917
RGD:1582365
NCBI chr 9:7,367,670...7,388,026
Ensembl chr 9:7,368,239...7,388,047
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Mmp2
matrix metallopeptidase 2
ISO
RGD
PMID:22475348
RGD:8657107
NCBI chr 8:93,553,920...93,580,049
Ensembl chr 8:93,553,919...93,580,048
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Mmp9
matrix metallopeptidase 9
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:27157545 PMID:17410600
RGD:1642039
NCBI chr 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770
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Nfe2l2
nuclear factor, erythroid derived 2, like 2
treatment
ISO
RGD
PMID:22304528
RGD:10412722
NCBI chr 2:75,505,860...75,535,007
Ensembl chr 2:75,505,857...75,534,985
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Ngb
neuroglobin
ISO
protein:increased expression:cerebral cortex
RGD
PMID:24281943
RGD:9743950
NCBI chr12:87,144,305...87,149,313
Ensembl chr12:87,144,305...87,149,313
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Nlk
nemo like kinase
disease_progression
ISO
RGD
PMID:23325309
RGD:12791279
NCBI chr11:78,457,994...78,588,848
Ensembl chr11:78,457,994...78,588,199
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Nos2
nitric oxide synthase 2, inducible
IEP ISO
mRNA:increased expression:brainstem, basilar artery (mouse) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:17053178 PMID:21915076
RGD:5509046
NCBI chr11:78,811,613...78,851,052
Ensembl chr11:78,811,613...78,851,080
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Nos3
nitric oxide synthase 3, endothelial cell
ISO
mRNA:increased expression:parietal cortex, arteriole (rat)
RGD
PMID:11273938
RGD:7794687
NCBI chr 5:24,569,772...24,589,472
Ensembl chr 5:24,569,808...24,589,472
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Nqo1
NAD(P)H dehydrogenase, quinone 1
ISO
mRNA, protein:increased expression:brain
RGD
PMID:21259333
RGD:5133235
NCBI chr 8:108,114,856...108,139,012
Ensembl chr 8:108,114,857...108,129,838
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Nrg1
neuregulin 1
treatment
ISO
RGD
PMID:28756200
RGD:151893490
NCBI chr 8:32,299,493...33,381,858
Ensembl chr 8:32,304,579...33,374,825 Ensembl chr 8:32,304,579...33,374,825
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Ntn1
netrin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29162556
NCBI chr11:68,100,190...68,277,652
Ensembl chr11:68,100,190...68,291,649
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Ntrk2
neurotrophic tyrosine kinase, receptor, type 2
ISO
RGD
PMID:21193742
RGD:5684779
NCBI chr13:58,954,363...59,281,782
Ensembl chr13:58,954,383...59,281,784
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Pdcd10
programmed cell death 10
ISO
protein:decreased expression:brain, microglial cell (rat)
RGD
PMID:32302649
RGD:401827168
NCBI chr 3:75,423,797...75,464,159
Ensembl chr 3:75,423,797...75,464,163
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Pdgfrb
platelet derived growth factor receptor, beta polypeptide
ameliorates
ISO
RGD
PMID:29480757
RGD:125093745
NCBI chr18:61,178,194...61,218,139
Ensembl chr18:61,178,222...61,218,133
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Pik3cb
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta
treatment
ISO
RGD
PMID:28756200
RGD:151893490
NCBI chr 9:98,920,455...99,022,264
Ensembl chr 9:98,918,707...99,022,674
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Pkd1l1
polycystic kidney disease 1 like 1
susceptibility
ISO
DNA:polymorphism:cds:p.Gly243Asp(human)
RGD
PMID:16741147
RGD:155630602
NCBI chr11:8,782,025...8,924,365
Ensembl chr11:8,776,708...8,923,266
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Pparg
peroxisome proliferator activated receptor gamma
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29162556
NCBI chr 6:115,337,828...115,467,365
Ensembl chr 6:115,337,912...115,467,360
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Prkn
parkin RBR E3 ubiquitin protein ligase
treatment
ISO
RGD
PMID:28546552
RGD:13432565
NCBI chr17:11,059,227...12,282,257
Ensembl chr17:11,059,271...12,282,248
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Ptch1
patched 1
ISO
mRNA, protein:increased expression:brain
RGD
PMID:23933201
RGD:12859044
NCBI chr13:63,656,142...63,721,274
Ensembl chr13:63,656,142...63,721,412
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Ptgs2
prostaglandin-endoperoxide synthase 2
IMP
RGD
PMID:21725746
RGD:5508204
NCBI chr 1:149,975,851...149,983,978
Ensembl chr 1:149,975,782...149,983,978
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Rela
v-rel reticuloendotheliosis viral oncogene homolog A (avian)
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27157545
NCBI chr19:5,686,993...5,698,162
Ensembl chr19:5,687,511...5,698,158
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Shh
sonic hedgehog
ISO
mRNA, protein:increased expression:brain
RGD
PMID:23933201
RGD:12859044
NCBI chr 5:28,661,838...28,672,099
Ensembl chr 5:28,661,813...28,672,254
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Smo
smoothened, frizzled class receptor
treatment
ISO
RGD
PMID:28149272
RGD:150521623
NCBI chr 6:29,735,480...29,761,359
Ensembl chr 6:29,735,502...29,761,364
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Stat3
signal transducer and activator of transcription 3
ISO
mRNA, protein:increased expression, increased phosphorylation:cerebral artery
RGD
PMID:24517975
RGD:8694356
NCBI chr11:100,777,632...100,830,447
Ensembl chr11:100,775,924...100,830,366
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Tacr1
tachykinin receptor 1
ISO
RGD
PMID:17542534
RGD:1626451
NCBI chr 6:82,378,990...82,537,085
Ensembl chr 6:82,379,315...82,537,085
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Tjp1
tight junction protein 1
ISO
protein:altered localization
RGD
PMID:18854840
RGD:2325137
NCBI chr 7:64,945,913...65,177,629
Ensembl chr 7:64,945,913...65,177,529
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Tlr4
toll-like receptor 4
ISO
mRNA, protein:increased expression:brain
RGD
PMID:19719951
RGD:4144093
NCBI chr 4:66,745,788...66,765,338
Ensembl chr 4:66,745,821...66,848,521
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Tmbim6
transmembrane BAX inhibitor motif containing 6
treatment
ISO
mRNA,protein:decreased expression:brain
RGD
PMID:30226536 PMID:30226536
RGD:35316073 , RGD:35316073
NCBI chr15:99,290,828...99,307,930
Ensembl chr15:99,290,763...99,307,930
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Tnc
tenascin C
ISO
protein:increased expression:basilar artery
RGD
PMID:19589197
RGD:4889600
NCBI chr 4:63,878,022...63,965,554
Ensembl chr 4:63,878,022...63,965,252
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Tnf
tumor necrosis factor
ISO
protein:increased expression:brain CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:27157545 PMID:19719951
RGD:4144093
NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983
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Trem1
triggering receptor expressed on myeloid cells 1
treatment severity
ISO
RGD
PMID:30910643 PMID:33727099
RGD:127284863 , RGD:127284864
NCBI chr17:48,539,763...48,553,955
Ensembl chr17:48,539,796...48,553,952
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Trpm4
transient receptor potential cation channel, subfamily M, member 4
ISO
protein:increased expression:entorhinal cortex
RGD
PMID:24114458
RGD:10003028
NCBI chr 7:44,952,579...44,983,495
Ensembl chr 7:44,952,056...44,983,204
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Unc5b
unc-5 netrin receptor B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29162556
NCBI chr10:60,598,373...60,667,360
Ensembl chr10:60,598,372...60,667,360
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Yap1
yes-associated protein 1
treatment
ISO
RGD
PMID:28756200
RGD:151893490
NCBI chr 9:7,932,000...8,004,890
Ensembl chr 9:7,932,000...8,004,597
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Plat
plasminogen activator, tissue
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:1899364
NCBI chr 8:23,247,655...23,272,864
Ensembl chr 8:23,247,743...23,272,860
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Gp9
glycoprotein 9 platelet
ISO
RGD
PMID:23103637
RGD:11040532
NCBI chr 6:87,753,115...87,756,768
Ensembl chr 6:87,755,054...87,756,750
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Itga2b
integrin alpha 2b
IDA
RGD
PMID:11493456
RGD:2316362
NCBI chr11:102,344,134...102,360,570
Ensembl chr11:102,344,123...102,360,948
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Itgb3
integrin beta 3
IMP ISO
associated with HIV Infections
RGD
PMID:11493456 PMID:8565280
RGD:2316362 , RGD:10755471
NCBI chr11:104,498,826...104,561,302
Ensembl chr11:104,498,826...104,561,302
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Vwf
Von Willebrand factor
ISO
RGD
PMID:14727254
RGD:1580644
NCBI chr 6:125,529,911...125,663,642
Ensembl chr 6:125,523,737...125,663,642
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Adamts13
ADAM metallopeptidase with thrombospondin type 1 motif 13
ISO IMP
ClinVar Annotator: match by term: ADAMTS13-related condition | ClinVar Annotator: match by term: Thrombotic thrombocytopenic purpura | ClinVar Annotator: match by term: Upshaw-Schulman syndrome 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 RGD
PMID:1787257 PMID:6433703 PMID:7094941 PMID:9536098 PMID:11563771 PMID:11586351 PMID:12181489 PMID:12393505 PMID:12434890 PMID:12576319 PMID:12614216 PMID:12656756 PMID:12753286 PMID:14512317 PMID:14563640 PMID:14597993 PMID:15009458 PMID:15126318 PMID:15521921 PMID:15800115 PMID:16160007 PMID:16199547 PMID:16388417 PMID:16453338 PMID:16597588 PMID:16796708 PMID:16807643 PMID:17003922 PMID:17187257 PMID:17576681 PMID:17627784 PMID:17849048 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:22547583 PMID:22768050 PMID:22783805 PMID:23058857 PMID:23208954 PMID:23346910 PMID:23621748 PMID:23648131 PMID:23715102 PMID:23847193 PMID:23878316 PMID:24033266 PMID:24115559 PMID:24433405 PMID:24859360 PMID:24936513 PMID:25442981 PMID:25741868 PMID:25934476 PMID:26081109 PMID:26139087 PMID:26342041 PMID:26352112 PMID:26566785 PMID:27132698 PMID:27427187 PMID:27802307 PMID:28492532 PMID:28678087 PMID:28748566 PMID:28866379 PMID:29554699 PMID:29763513 PMID:30046676 PMID:30312976 PMID:30762934 PMID:30792199 PMID:31064749 PMID:31971692 PMID:31980526 PMID:32183147 PMID:32496441 PMID:34355501 PMID:35022991 PMID:18031293 PMID:11586351 PMID:16200209 PMID:9129011 More...
RGD:10449043 , RGD:1598736 , RGD:10449037 , RGD:10449028
NCBI chr 2:26,863,363...26,899,638
Ensembl chr 2:26,863,428...26,899,640
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Cd36
CD36 molecule
ISO
RGD
PMID:7529543
RGD:11041104
NCBI chr 5:17,986,680...18,093,828
Ensembl chr 5:17,986,688...18,093,799
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F3
coagulation factor III
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:7740478
NCBI chr 3:121,517,186...121,528,701
Ensembl chr 3:121,517,186...121,528,697
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H2-Ab1
histocompatibility 2, class II antigen A, beta 1
ISO
DNA:polymorphisms:cds:HLA-DQB1*0301 (human)
RGD
PMID:19922436
RGD:11041754
NCBI chr17:34,482,201...34,488,392
Ensembl chr17:34,476,663...34,488,393
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Proc
protein C
ISO
RGD
PMID:10936861
RGD:11100014
NCBI chr18:32,256,179...32,272,623
Ensembl chr18:32,256,179...32,272,623
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Tfpi
tissue factor pathway inhibitor
treatment
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:7740478 PMID:7740478
RGD:11340214
NCBI chr 2:84,263,199...84,307,119
Ensembl chr 2:84,263,199...84,307,119
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Thbd
thrombomodulin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:7740478
NCBI chr 2:148,246,391...148,250,108
Ensembl chr 2:148,246,386...148,250,108
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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 2:26,863,363...26,899,638
Ensembl chr 2:26,863,428...26,899,640
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Vwf
Von Willebrand factor
treatment
ISO
RGD
PMID:26863353
RGD:11079195
NCBI chr 6:125,529,911...125,663,642
Ensembl chr 6:125,523,737...125,663,642
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F7
coagulation factor VII
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:20370756
NCBI chr 8:13,075,499...13,085,809
Ensembl chr 8:13,076,034...13,085,809
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Abcc8
ATP-binding cassette, sub-family C member 8
treatment
ISO
RGD
PMID:18854840
RGD:2325137
NCBI chr 7:45,753,952...45,829,441
Ensembl chr 7:45,753,947...45,829,457
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F13a1
coagulation factor XIII, A1 subunit
IMP
RGD
PMID:12933578
RGD:10450744
NCBI chr13:37,051,150...37,234,220
Ensembl chr13:37,051,152...37,234,220
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