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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:Cerebral Hemorrhage
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Accession:DOID:9002676 term browser browse the term
Definition:Bleeding into one or both CEREBRAL HEMISPHERES including the BASAL GANGLIA and the CEREBRAL CORTEX. It is often associated with HYPERTENSION and CRANIOCEREBRAL TRAUMA.
Synonyms:exact_synonym: Cerebral Brain Hemorrhage;   Cerebral Brain Hemorrhages;   Cerebral Hemorrhages;   Cerebral Parenchymal Hemorrhage;   Cerebral Parenchymal Hemorrhages;   Cerebrum Hemorrhage;   Cerebrum Hemorrhages;   ICH;   Intracerebral Hemorrhage;   Intracerebral Hemorrhages;   parenchymal hematoma
 narrow_synonym: non-lobar intracerebral hemorrhage
 broad_synonym: COL4A2-RELATED CONDITION
 related_synonym: COL4A2-RELATED DISORDER;   Hemorrhage, intracerebral, susceptibility to;   STROKE, HEMORRHAGIC, SUSCEPTIBILITY TO
 primary_id: MESH:D002543;   RDO:0003867
 alt_id: OMIM:614519
 xref: EFO:0005669;   EFO:0010178;   EFO:0020101;   NCI:C50485


show annotations for term's descendants           Sort by:
Cerebral Hemorrhage term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 More... NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131 		JBrowse link
G Anxa1 annexin A1 IEP mRNA:increased expression:brain RGD PMID:16034371 RGD:2306905 NCBI chr 1:217,861,175...217,877,205
Ensembl chr 1:217,861,175...217,877,343 		JBrowse link
G Apex1 apurinic/apyrimidinic endodeoxyribonuclease 1 IEP RGD PMID:15344903 RGD:2315676 NCBI chr15:24,144,595...24,146,785
Ensembl chr15:24,144,362...24,146,785 		JBrowse link
G Apoe apolipoprotein E ISO DNA:missense mutations, haplotype:cds:p.C112R (rs7412) (human) RGD PMID:19251191 RGD:6904207 NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932 		JBrowse link
G Aqp4 aquaporin 4 IEP RGD PMID:25545558 RGD:11541062 NCBI chr18:6,507,903...6,524,558
Ensembl chr18:6,507,903...6,524,856 		JBrowse link
G Bax BCL2 associated X, apoptosis regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:12721362 NCBI chr 1:95,940,001...95,945,407
Ensembl chr 1:95,938,808...95,945,368 		JBrowse link
G Bcl2 BCL2, apoptosis regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:12721362 NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743
Ensembl chr13:22,684,989...22,853,743 		JBrowse link
G Bcl2l1 Bcl2-like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12721362 NCBI chr 3:141,253,508...141,304,582
Ensembl chr 3:141,253,523...141,303,479 		JBrowse link
G Bdnf brain-derived neurotrophic factor ISO RGD PMID:20818776 RGD:4891129 NCBI chr 3:96,165,042...96,215,621
Ensembl chr 3:96,165,042...96,215,615 		JBrowse link
G Becn1 beclin 1 IEP protein:increased expression:basal ganglion RGD PMID:23884876 RGD:11561935 NCBI chr10:86,231,387...86,246,742
Ensembl chr10:86,231,388...86,246,742 		JBrowse link
G Bnip3l BCL2 interacting protein 3 like IEP RGD PMID:23771482 RGD:7483577 NCBI chr15:41,174,594...41,197,730
Ensembl chr15:41,174,594...41,197,803 		JBrowse link
G C3 complement C3 IEP RGD PMID:17114852 RGD:5129540 NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429 		JBrowse link
G Casp12 caspase 12 treatment IEP RGD PMID:28544790 RGD:13782167 NCBI chr 8:2,642,296...2,669,549
Ensembl chr 8:2,642,434...2,674,037 		JBrowse link
G Casp3 caspase 3 treatment
ameliorates		 ISO
IEP		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:17971790 PMID:28096675 PMID:31376096 RGD:13782306, RGD:329337378 NCBI chr16:45,662,910...45,681,171
Ensembl chr16:45,662,910...45,684,648 		JBrowse link
G Casp8 caspase 8 treatment ISO
IEP		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:17971790 PMID:28096675 RGD:13782306 NCBI chr 9:60,263,863...60,312,542
Ensembl chr 9:60,264,075...60,312,542 		JBrowse link
G Casp9 caspase 9 treatment IEP RGD PMID:28096675 RGD:13782306 NCBI chr 5:154,108,872...154,126,628
Ensembl chr 5:154,109,046...154,126,626 		JBrowse link
G Cd14 CD14 molecule IEP mRNA:increased expression:lung, intestine: RGD PMID:19534684 RGD:7185660 NCBI chr18:28,335,522...28,337,383
Ensembl chr18:28,335,340...28,337,261 		JBrowse link
G Cd36 CD36 molecule ISO RGD PMID:19064796 RGD:6893504 NCBI chr 4:17,317,343...17,410,084
Ensembl chr 4:17,354,466...17,513,903 		JBrowse link
G Cfh complement factor H severity ISO RGD PMID:21871809 RGD:5684553 NCBI chr13:51,512,376...51,613,829
Ensembl chr13:51,511,828...51,613,838 		JBrowse link
G Cntf ciliary neurotrophic factor ISO CTD Direct Evidence: therapeutic CTD PMID:11701153 NCBI chr 1:209,887,854...209,889,877
Ensembl chr 1:209,887,854...209,889,877 		JBrowse link
G Col4a1 collagen type IV alpha 1 chain susceptibility 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
OMIM
RGD		 PMID:3691802 PMID:7695699 PMID:8218237 PMID:9016532 PMID:9536098 More... RGD:1581204 NCBI chr16:78,183,533...78,294,412
Ensembl chr16:78,183,533...78,294,412 		JBrowse link
G Col4a2 collagen type IV alpha 2 chain 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
CTD
OMIM
RGD		 PMID:22209247 PMID:22333902 PMID:22914737 PMID:24390199 PMID:24646874 More... RGD:13450933 NCBI chr16:78,047,591...78,183,360
Ensembl chr16:78,047,602...78,183,839 		JBrowse link
G Csf3 colony stimulating factor 3 treatment ISO RGD PMID:19169816 RGD:11039433 NCBI chr10:83,660,787...83,664,569
Ensembl chr10:83,661,207...83,663,603 		JBrowse link
G Cxcr4 C-X-C motif chemokine receptor 4 treatment IMP RGD PMID:24955809 RGD:11352686 NCBI chr13:40,077,976...40,081,883
Ensembl chr13:40,077,976...40,081,883 		JBrowse link
G Dag1 dystroglycan 1 IEP RGD PMID:25545558 RGD:11541062 NCBI chr 8:108,890,926...108,955,611
Ensembl chr 8:108,890,929...108,952,325 		JBrowse link
G Dcx doublecortin IEP protein:increased expression:dentate gyrus RGD PMID:24144742 RGD:12904766 NCBI chr  X:107,430,767...107,573,612
Ensembl chr  X:107,430,767...107,507,476 		JBrowse link
G F11 coagulation factor XI ISO ClinVar Annotator: match by term: Cerebral hemorrhage ClinVar PMID:23929304 PMID:27067486 PMID:28492532 PMID:34776502 NCBI chr16:46,987,988...47,009,015
Ensembl chr16:46,986,107...47,008,437 		JBrowse link
G F13a1 coagulation factor XIII A1 chain ISO RGD PMID:9550516 RGD:1581027 NCBI chr17:27,815,723...27,992,494
Ensembl chr17:27,815,702...27,992,700 		JBrowse link
G F2 coagulation factor II, thrombin severity ISO protein:increased expression:plasma RGD PMID:21244583 RGD:5147770 NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486 		JBrowse link
G 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 chr16:76,489,775...76,500,636
Ensembl chr16:76,489,717...76,500,610 		JBrowse link
G Flt1 Fms related receptor tyrosine kinase 1 IEP
ISO		 mRNA:increased expression:brain:
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:17888890 PMID:17888890 RGD:10402152 NCBI chr12:7,296,899...7,468,626
Ensembl chr12:7,297,292...7,468,626 		JBrowse link
G Fto FTO, alpha-ketoglutarate dependent dioxygenase ISO protein:increased expression:thalamic complex RGD PMID:34102854 RGD:329812008 NCBI chr19:15,284,898...15,692,142
Ensembl chr19:15,349,696...15,692,083 		JBrowse link
G Gp6 glycoprotein VI ameliorates ISO associated with hypertension RGD PMID:33556561 RGD:401794565 NCBI chr 1:69,429,232...69,492,709
Ensembl chr 1:69,465,789...69,491,326 		JBrowse link
G Hmox1 heme oxygenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12401953 NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079 		JBrowse link
G Hmox2 heme oxygenase 2 ISO CTD Direct Evidence: therapeutic CTD PMID:16459095 NCBI chr10:10,797,076...10,831,178
Ensembl chr10:10,797,055...10,831,148 		JBrowse link
G Hp haptoglobin treatment ISO RGD PMID:20016097 PMID:20016097 RGD:11041810, RGD:11041810 NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523 		JBrowse link
G Ifnb1 interferon beta 1 exacerbates ISO RGD PMID:29301581 RGD:401854231 NCBI chr 5:103,020,758...103,021,595
Ensembl chr 5:103,020,969...103,021,523 		JBrowse link
G Il1b interleukin 1 beta ameliorates IEP RGD PMID:31376096 RGD:329337378 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415 		JBrowse link
G Il1rn interleukin 1 receptor antagonist treatment IEP
ISO		 mRNA:increased expression:striatum (rat)
human gene in a rat model		 RGD PMID:22707991 PMID:14753487 RGD:6997504, RGD:8551833 NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445 		JBrowse link
G Il6 interleukin 6 ameliorates IEP RGD PMID:31376096 RGD:329337378 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178 		JBrowse link
G Itga2b integrin subunit alpha 2b ISO CTD Direct Evidence: marker/mechanism CTD PMID:9445356 NCBI chr10:87,408,532...87,426,055
Ensembl chr10:87,408,536...87,426,168 		JBrowse link
G Itgav integrin subunit alpha V ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:9445356 PMID:16102435 RGD:1582447 NCBI chr 3:68,838,514...68,926,653
Ensembl chr 3:68,838,189...68,926,639 		JBrowse link
G Itgb2 integrin subunit beta 2 ISO RGD PMID:18615643 RGD:6482197 NCBI chr20:11,061,394...11,097,656
Ensembl chr20:11,061,430...11,097,600 		JBrowse link
G Itgb3 integrin subunit beta 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9445356 NCBI chr10:89,509,917...89,564,679
Ensembl chr10:89,509,989...89,564,679 		JBrowse link
G Kat6b lysine acetyltransferase 6B ISO ClinVar Annotator: match by term: Stroke, hemorrhagic, susceptibility to ClinVar PMID:25741868 NCBI chr15:2,638,885...2,811,977
Ensembl chr15:2,639,200...2,812,316 		JBrowse link
G Kdr kinase insert domain receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:17888890 NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018 		JBrowse link
G Lcn2 lipocalin 2 IEP RGD PMID:23416150 RGD:126790480 NCBI chr 3:15,680,688...15,684,033
Ensembl chr 3:15,680,687...15,684,095 		JBrowse link
G Map1lc3a microtubule-associated protein 1 light chain 3 alpha IEP RGD PMID:23884876 RGD:11561935 NCBI chr 3:143,783,024...143,784,670
Ensembl chr 3:143,783,024...143,784,670 		JBrowse link
G Mir126a microRNA 126a ameliorates IMP RGD PMID:32160957 RGD:401851064 NCBI chr 3:9,415,063...9,415,180
Ensembl chr 3:9,415,063...9,415,180 		JBrowse link
G Mir140 microRNA 140 ameliorates IMP RGD PMID:31376096 RGD:329337378 NCBI chr19:35,465,577...35,465,675
Ensembl chr19:35,465,577...35,465,675 		JBrowse link
G Mir152 microRNA 152 treatment IDA RGD PMID:31982825 RGD:21066340 NCBI chr10:81,832,936...81,833,020
Ensembl chr10:81,832,936...81,833,020 		JBrowse link
G Mir23a microRNA 23a ameliorates IMP
ISO		 RNA:increased expression:serum RGD PMID:33403590 PMID:29771433 RGD:155882539, RGD:155882557 NCBI chr19:23,954,997...23,955,071
Ensembl chr19:23,954,997...23,955,071 		JBrowse link
G Mmp12 matrix metallopeptidase 12 IDA
ISO		 RGD PMID:12783419 PMID:15654856 RGD:1582362, RGD:1582358 NCBI chr 8:4,581,785...4,591,687
Ensembl chr 8:4,581,785...4,599,611 		JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10698078 NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870 		JBrowse link
G Mmp3 matrix metallopeptidase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17971790 NCBI chr 8:4,640,397...4,653,963
Ensembl chr 8:4,640,416...4,653,961 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD
RGD		 PMID:14630814 PMID:15488484 PMID:15529013 PMID:16190367 PMID:19095969 More... RGD:1582637 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120 		JBrowse link
G Mt1 metallothionein 1 IEP mRNA:increased expression:cerebral cortex, striatum (rat) RGD PMID:16034371 RGD:2306905 NCBI chr19:10,826,032...10,827,048
Ensembl chr19:10,826,032...10,827,049
Ensembl chr17:10,826,032...10,827,049 		JBrowse link
G Mt2A metallothionein 2A IEP mRNA:increased expression:cerebral cortex, striatum (rat) RGD PMID:16034371 RGD:2306905 NCBI chr19:10,832,009...10,832,783
Ensembl chr19:10,832,002...10,832,784 		JBrowse link
G Mtor mechanistic target of rapamycin kinase treatment IMP RGD PMID:24602288 RGD:10041041 NCBI chr 5:158,884,856...158,994,311
Ensembl chr 5:158,884,804...158,994,311 		JBrowse link
G Nfkb1 nuclear factor kappa B subunit 1 IDA protein:increased activity:striatum RGD PMID:17250675 RGD:2302394 NCBI chr 2:224,016,214...224,132,135
Ensembl chr 2:224,016,214...224,110,404 		JBrowse link
G Nfkb2 nuclear factor kappa B subunit 2 IDA protein:increased activity:striatum RGD PMID:17250675 RGD:2302394 NCBI chr 1:245,164,586...245,173,225
Ensembl chr 1:245,165,950...245,173,213 		JBrowse link
G Nfkbia NFKB inhibitor alpha IDA protein:increased phosphorylation:brain RGD PMID:20150961 RGD:10413872 NCBI chr 6:72,858,713...72,861,941
Ensembl chr 6:72,858,712...72,861,941 		JBrowse link
G Nppb natriuretic peptide B ISO CTD Direct Evidence: therapeutic CTD PMID:19803787 NCBI chr 5:158,416,813...158,418,175
Ensembl chr 5:158,416,866...158,418,168 		JBrowse link
G Npy neuropeptide Y IEP protein:increased expression:plasma (rat) RGD PMID:15068713 RGD:1580182 NCBI chr 4:78,881,294...78,888,495
Ensembl chr 4:78,881,264...78,888,495 		JBrowse link
G Nqo1 NAD(P)H quinone dehydrogenase 1 treatment IEP RGD PMID:29050310 RGD:13442476 NCBI chr19:35,295,633...35,310,528
Ensembl chr19:35,295,573...35,310,557 		JBrowse link
G Plat plasminogen activator, tissue type treatment
severity		 IDA
ISO		 human protein in a rat model
associated with Brain Injuries
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:1430592 PMID:1579960 PMID:1899364 PMID:7477192 PMID:7723950 More... RGD:11537477, RGD:11541064 NCBI chr16:69,240,582...69,265,177
Ensembl chr16:69,240,585...69,268,223 		JBrowse link
G Plau plasminogen activator, urokinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:1265806 PMID:8025938 PMID:9731615 PMID:15181847 PMID:17702958 NCBI chr15:3,456,230...3,462,732
Ensembl chr15:3,456,232...3,462,775 		JBrowse link
G Plod3 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3 ISO ClinVar Annotator: match by term: Hemorrhage, intracerebral, susceptibility to ClinVar PMID:25741868 PMID:28492532 NCBI chr12:19,676,384...19,686,945
Ensembl chr12:19,676,386...19,686,960 		JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: marker/mechanism CTD PMID:6254450 NCBI chr 6:26,939,844...26,945,666
Ensembl chr 6:26,939,837...26,945,664 		JBrowse link
G Psen1 presenilin 1 ISO RGD PMID:16079160 RGD:1580694 NCBI chr 6:103,323,052...103,375,088
Ensembl chr 6:103,323,120...103,371,650 		JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 IEP
ISO		 protein:increased expression:neuron, astrocyte, blood vessel RGD PMID:21385433 PMID:21385433 RGD:5508223, RGD:5508223 NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188 		JBrowse link
G Rad21 RAD21 cohesin complex component severity IMP RGD PMID:36538854 RGD:243065265 NCBI chr 7:83,287,867...83,314,810
Ensembl chr 7:83,287,870...83,314,817 		JBrowse link
G Rela RELA proto-oncogene, NF-kB subunit IDA protein:increased activity:striatum RGD PMID:17250675 RGD:2302394 NCBI chr 1:202,925,001...202,935,484
Ensembl chr 1:202,924,945...202,935,484 		JBrowse link
G Relb RELB proto-oncogene, NF-kB subunit IDA mRNA, protein:increased expression, increased activity:striatum RGD PMID:17250675 RGD:2302394 NCBI chr 1:79,257,738...79,285,490
Ensembl chr 1:79,257,725...79,285,507 		JBrowse link
G S100b S100 calcium binding protein B disease_progression ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:19027832 PMID:19505208 RGD:5508801 NCBI chr20:12,372,866...12,381,619
Ensembl chr20:12,372,881...12,394,743 		JBrowse link
G Serpina3n serine (or cysteine) peptidase inhibitor, clade A, member 3N ISO RGD PMID:12126519 RGD:1580109 NCBI chr 6:123,323,623...123,331,181
Ensembl chr 6:123,323,629...123,332,433 		JBrowse link
G Serpinc1 serpin family C member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:6636041 NCBI chr13:73,257,208...73,271,476
Ensembl chr13:73,257,179...73,284,293 		JBrowse link
G Slc24a1 solute carrier family 24 member 1 IEP mRNA, protein:decreased expression:cerebrum RGD PMID:23564126 RGD:9685494 NCBI chr 8:65,440,842...65,466,001
Ensembl chr 8:65,440,730...65,466,001 		JBrowse link
G Slc8b1 solute carrier family 8 member B1 IEP RGD PMID:23564126 RGD:9685494 NCBI chr12:36,029,759...36,053,087
Ensembl chr12:36,029,760...36,053,031 		JBrowse link
G Spp1 secreted phosphoprotein 1 ISO CTD Direct Evidence: therapeutic CTD PMID:20440599 NCBI chr14:5,308,885...5,315,120
Ensembl chr14:5,308,885...5,315,162 		JBrowse link
G Sqstm1 sequestosome 1 IEP protein:decreased expression:basal ganglion RGD PMID:23884876 RGD:11561935 NCBI chr10:34,525,517...34,536,670
Ensembl chr10:34,525,519...34,536,673 		JBrowse link
G Thbs1 thrombospondin 1 IEP RGD PMID:20136391 RGD:2317938 NCBI chr 3:105,056,293...105,071,445
Ensembl chr 3:105,056,292...105,071,440 		JBrowse link
G Thbs2 thrombospondin 2 IEP RGD PMID:20136391 RGD:2317938 NCBI chr 1:55,670,394...55,699,789
Ensembl chr 1:55,670,394...55,699,789 		JBrowse link
G Tnf tumor necrosis factor ameliorates IEP RGD PMID:31376096 RGD:329337378 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629 		JBrowse link
G Vegfa vascular endothelial growth factor A ISO CTD Direct Evidence: marker/mechanism CTD PMID:17888890 NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641 		JBrowse link
APP-related cerebral amyloid angiopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 More... NCBI chr11:24,019,774...24,236,584
Ensembl chr11:24,019,778...24,236,561 		JBrowse link
Basal Ganglia Hemorrhage term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gsn gelsolin severity ISO protein:decreased expression:blood plasma (human) RGD PMID:23142649 RGD:329333032 NCBI chr 3:18,585,166...18,638,404
Ensembl chr 3:18,585,172...18,638,402 		JBrowse link
Intraventricular Hemorrhage term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bace1 beta-secretase 1 IEP protein:increased expression:hippocampus RGD PMID:30028260 RGD:13782136 NCBI chr 8:46,142,060...46,166,268
Ensembl chr 8:46,142,116...46,165,876 		JBrowse link
G Col4a1 collagen type IV alpha 1 chain ISO ClinVar Annotator: match by term: Intraventricular hemorrhage ClinVar PMID:7695699 PMID:8218237 PMID:9016532 PMID:16598045 PMID:17078022 More... NCBI chr16:78,183,533...78,294,412
Ensembl chr16:78,183,533...78,294,412 		JBrowse link
G Col4a2 collagen type IV alpha 2 chain ISO ClinVar Annotator: match by term: Intraventricular hemorrhage ClinVar PMID:25741868 PMID:33527515 NCBI chr16:78,047,591...78,183,360
Ensembl chr16:78,047,602...78,183,839 		JBrowse link
G Il6 interleukin 6 ISO associated with Premature Birth;protein:increased expression:serum: RGD PMID:22906886 RGD:12792208 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178 		JBrowse link
Preterm Intraventricular Hemorrhage term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cnot1 CCR4-NOT transcription complex, subunit 1 ISO ClinVar Annotator: match by term: Preterm intraventricular hemorrhage ClinVar PMID:25741868 NCBI chr19:9,255,190...9,346,574
Ensembl chr19:9,255,194...9,346,574 		JBrowse link
G Gsn gelsolin ISO protein:decreased expression:blood plasma (human) RGD PMID:28755273 RGD:329337382 NCBI chr 3:18,585,166...18,638,404
Ensembl chr 3:18,585,172...18,638,402 		JBrowse link
G Sema6b semaphorin 6B ISO ClinVar Annotator: match by term: Grade I preterm intraventricular hemorrhage ClinVar PMID:31474318 NCBI chr 9:950,939...967,905
Ensembl chr 9:950,939...961,521 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Pathological Conditions, Signs and Symptoms 13345
      Pathologic Processes 7991
        Hemorrhage 305
          Intracranial Hemorrhages 163
            Cerebral Hemorrhage 90
              APP-related cerebral amyloid angiopathy 1
              Basal Ganglia Hemorrhage + 1
              Cerebral Hemorrhage, Traumatic 0
              Intraventricular Hemorrhage + 7
              lobar intracerebral hemorrhage 0
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14091
        central nervous system disease 12432
          brain disease 11669
            cerebrovascular disease 1000
              Intracranial Hemorrhages 163
                Cerebral Hemorrhage 90
                  APP-related cerebral amyloid angiopathy 1
                  Basal Ganglia Hemorrhage + 1
                  Cerebral Hemorrhage, Traumatic 0
                  Intraventricular Hemorrhage + 7
                  lobar intracerebral hemorrhage 0
paths to the root