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HUMAN PHENOTYPE - ANNOTATIONS

The Human Phenotype Ontology (HPO) is downloaded weekly from http://compbio.charite.de/hudson/job/hpo/lastStableBuild/artifact/ontology/release/hp.obo. The file downloaded is considered the "last stable build" available for the ontology. For more about the HPO, view their website at http://www.human-phenotype-ontology.org/.
Term:Cerebral infarct
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Accession:HP:0025722 term browser browse the term
Definition:A necrotic lesion in the cerebrum resulting from a sudden insufficiency of arterial or venous blood supply due to emboli, thrombi or mechanical factors.


show annotations for term's descendants           Sort by:
Cerebral infarct term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADA2 adenosine deaminase 2 IAGP HPO ORPHA:820 NCBI chr22:17,178,790...17,221,848
Ensembl chr22:17,178,790...17,258,235 		JBrowse link
G COQ4 coenzyme Q4 IAGP HPO MIM:616276 NCBI chr 9:128,322,839...128,334,072
Ensembl chr 9:128,322,544...128,334,072 		JBrowse link
G POLG DNA polymerase gamma, catalytic subunit IAGP HPO ORPHA:254881 NCBI chr15:89,316,320...89,334,824
Ensembl chr15:89,305,198...89,334,861 		JBrowse link
G TBK1 TANK binding kinase 1 IAGP HPO MIM:620880 NCBI chr12:64,452,120...64,502,114
Ensembl chr12:64,452,090...64,502,114 		JBrowse link
Ischemic stroke term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACE angiotensin I converting enzyme IAGP ClinVar Annotator: match by term: Ischemic stroke ClinVar PMID:1313972 PMID:1319114 PMID:1328889 PMID:1386652 PMID:1976655 More... NCBI chr17:63,477,061...63,498,373
Ensembl chr17:63,477,061...63,498,380 		JBrowse link
G ACTA2 actin alpha 2, smooth muscle IAGP HPO ORPHA:91387 NCBI chr10:88,935,074...88,991,337
Ensembl chr10:88,934,822...88,991,339 		JBrowse link
G ACVRL1 activin A receptor like type 1 IAGP HPO MIM:600376 NCBI chr12:51,906,944...51,923,361
Ensembl chr12:51,906,908...51,923,361 		JBrowse link
G ADA2 adenosine deaminase 2 IAGP HPO MIM:182410 NCBI chr22:17,178,790...17,221,848
Ensembl chr22:17,178,790...17,258,235 		JBrowse link
G BHMT betaine--homocysteine S-methyltransferase susceptibility IAGP DNA:SNPs,haplotypes:multiple RGD PMID:20458436 RGD:401794454 NCBI chr 5:79,111,809...79,132,288
Ensembl chr 5:79,111,809...79,132,288 		JBrowse link
G BRCC3 BRCA1/BRCA2-containing complex subunit 3 IAGP HPO ORPHA:280679 NCBI chr  X:155,071,508...155,123,077
Ensembl chr  X:155,071,420...155,123,077 		JBrowse link
G CBS cystathionine beta-synthase susceptibility IAGP DNA:SNPs,haplotypes:multiple RGD PMID:20458436 RGD:401794454 NCBI chr21:43,053,191...43,076,873
Ensembl chr21:43,053,191...43,076,943 		JBrowse link
G COL4A1 collagen type IV alpha 1 chain IAGP HPO MIM:175780 NCBI chr13:110,148,963...110,307,157
Ensembl chr13:110,148,963...110,307,202 		JBrowse link
G ELN elastin IAGP HPO ORPHA:91387 NCBI chr 7:74,028,173...74,069,907
Ensembl chr 7:74,027,789...74,069,907 		JBrowse link
G ENG endoglin IAGP HPO MIM:187300 NCBI chr 9:127,815,016...127,854,658
Ensembl chr 9:127,811,130...127,854,773 		JBrowse link
G EPHX2 epoxide hydrolase 2 susceptibility IAGP DNA:SNP:intron:IVS16 (rs2291635)
DNA:missense mutation:cds:p.K55R		 RGD PMID:18323494 PMID:20065888 RGD:5688362, RGD:5688727 NCBI chr 8:27,491,143...27,548,626
Ensembl chr 8:27,490,781...27,545,564 		JBrowse link
G F2 coagulation factor II, thrombin IAGP ClinVar Annotator: match by term: Ischemic stroke ClinVar PMID:2222810 PMID:2429850 PMID:2825773 PMID:6305407 PMID:8696333 More... NCBI chr11:46,719,213...46,739,506
Ensembl chr11:46,719,196...46,739,506 		JBrowse link
G F5 coagulation factor V IAGP ClinVar Annotator: match by term: Ischemic stroke ClinVar PMID:7586244 PMID:7803250 PMID:7877648 PMID:7910348 PMID:7911872 More... NCBI chr 1:169,511,951...169,586,481
Ensembl chr 1:169,511,951...169,586,588 		JBrowse link
G FBN1 fibrillin 1 IAGP ClinVar Annotator: match by term: Ischemic stroke HPO
ClinVar		 PMID:7611299 PMID:8894692 PMID:9401003 PMID:9536098 PMID:10533071 More... ORPHA:91387 NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721 		JBrowse link
G FCGR2A Fc gamma receptor IIa susceptibility IAGP DNA:SNPs:enhancers: (rs7512140, rs7535475)
DNA:SNPs:enhancers:multiple		 RGD PMID:20034444 PMID:19357503 RGD:5147920, RGD:5147924 NCBI chr 1:161,505,457...161,524,048
Ensembl chr 1:161,505,430...161,524,013 		JBrowse link
G FGB fibrinogen beta chain susceptibility IAGP DNA:SNP:promoter:1038G>A (rs1800791) RGD PMID:18278190 RGD:5688760 NCBI chr 4:154,562,980...154,572,807
Ensembl chr 4:154,563,011...154,572,807 		JBrowse link
G FGG fibrinogen gamma chain susceptibility IAGP DNA:SNP:promoter:902A>G (rs1800792) RGD PMID:18278190 RGD:5688760 NCBI chr 4:154,604,136...154,612,656
Ensembl chr 4:154,604,134...154,612,967 		JBrowse link
G FOLH1 folate hydrolase 1 susceptibility IAGP DNA:SNPs,haplotypes:multiple RGD PMID:20458436 RGD:401794454 NCBI chr11:49,145,092...49,208,602
Ensembl chr11:49,145,092...49,208,638 		JBrowse link
G FOXE3 forkhead box E3 IAGP HPO ORPHA:91387 NCBI chr 1:47,416,285...47,418,052
Ensembl chr 1:47,416,285...47,418,052 		JBrowse link
G GNB2 G protein subunit beta 2 IAGP HPO MIM:619503 NCBI chr 7:100,673,740...100,679,169
Ensembl chr 7:100,673,567...100,679,174 		JBrowse link
G GP6 glycoprotein VI platelet IAGP Sticky platelet syndrome type I associated with cerebral infarction;DNA:SNPs, haplotype:multiple RGD PMID:23168074 RGD:401794413 NCBI chr19:55,013,705...55,038,264
Ensembl chr19:55,013,705...55,038,264 		JBrowse link
G GRN granulin precursor IAGP ClinVar Annotator: match by term: Ischemic stroke ClinVar PMID:18723524 PMID:25741868 PMID:28492532 NCBI chr17:44,345,302...44,353,106
Ensembl chr17:44,345,246...44,353,106 		JBrowse link
G GUCY1A1 guanylate cyclase 1 soluble subunit alpha 1 IAGP HPO MIM:615750 NCBI chr 4:155,666,848...155,737,059
Ensembl chr 4:155,666,726...155,737,059 		JBrowse link
G H19 H19 imprinted maternally expressed transcript susceptibility IAGP DNA:SNPs,haplotypes: (rs217727,rs4929984) (human)
DNA:SNP::(rs217727) (human)		 RGD PMID:28203482 PMID:33541284 RGD:155900760, RGD:156430336 NCBI chr11:1,995,176...2,001,266
Ensembl chr11:1,995,165...2,004,552 		JBrowse link
G HBB hemoglobin subunit beta IAGP HPO ORPHA:232 NCBI chr11:5,225,464...5,227,071
Ensembl chr11:5,225,464...5,229,395 		JBrowse link
G HEY2 hes related family bHLH transcription factor with YRPW motif 2 IAGP HPO ORPHA:91387 NCBI chr 6:125,749,632...125,761,269
Ensembl chr 6:125,747,664...125,761,269 		JBrowse link
G HLA-A major histocompatibility complex, class I, A susceptibility IAGP DNA:polymorphism::HLA-A31:01 (human) RGD PMID:24767290 RGD:401827096 NCBI chr 6:29,942,532...29,945,870
Ensembl chr 6:29,941,260...29,949,572 		JBrowse link
G HLA-B major histocompatibility complex, class I, B susceptibility IAGP DNA:polymorphism::HLA-B37:01 (human) RGD PMID:24767290 RGD:401827096 NCBI chr 6:31,353,875...31,357,179
Ensembl chr 6:31,353,872...31,367,067 		JBrowse link
G HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 susceptibility IAGP DNA:polymorphism:cds:HLA-DQB1*0402 RGD PMID:12373032 RGD:5147804 NCBI chr 6:32,659,467...32,666,657
Ensembl chr 6:32,659,467...32,668,383 		JBrowse link
G HLA-DRB1 major histocompatibility complex, class II, DR beta 1 susceptibility IAGP DNA:polymorphism:cds:HLA-DRB1*0802
DNA:polymorphism,haplotype::HLA-B37:01 (human)		 RGD PMID:12373032 PMID:24767290 RGD:5147804, RGD:401827096 NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848 		JBrowse link
G JAK2 Janus kinase 2 IAGP HPO MIM:614521 NCBI chr 9:4,984,390...5,129,948
Ensembl chr 9:4,984,390...5,129,948 		JBrowse link
G KALRN kalirin RhoGEF kinase susceptibility
sexual_dimorphism		 IAGP DNA:SNP:intron: (rs6438833) (human)
DNA:SNPs::multiple (human)
DNA:SNPs, haplotypes:intron,cds: (rs7620580, rs1708303) (human)		 RGD PMID:25917671 PMID:20107840 PMID:28706949 RGD:11085239, RGD:329955374, RGD:329956420 NCBI chr 3:124,033,369...124,726,325
Ensembl chr 3:124,033,369...124,726,325 		JBrowse link
G LDLR low density lipoprotein receptor susceptibility IAGP DNA:SNPs:introns: (rs2738446, rs2738450) RGD PMID:19589204 RGD:5490232 NCBI chr19:11,089,463...11,133,820
Ensembl chr19:11,089,418...11,133,820 		JBrowse link
G LOX lysyl oxidase IAGP HPO ORPHA:91387 NCBI chr 5:122,063,195...122,078,259
Ensembl chr 5:122,063,195...122,078,413 		JBrowse link
G MAT2A methionine adenosyltransferase 2A IAGP HPO ORPHA:91387 NCBI chr 2:85,539,168...85,545,281
Ensembl chr 2:85,539,168...85,545,281 		JBrowse link
G MFAP5 microfibril associated protein 5 IAGP HPO ORPHA:91387 NCBI chr12:8,645,943...8,662,826
Ensembl chr12:8,637,346...8,662,888 		JBrowse link
G MT-CO2 mitochondrially encoded cytochrome c oxidase II IAGP ClinVar Annotator: match by term: Ischemic stroke ClinVar NCBI chr MT:7,586...8,269
Ensembl chr MT:7,586...8,269 		JBrowse link
G MT-CYB mitochondrially encoded cytochrome b IAGP ClinVar Annotator: match by term: Ischemic stroke ClinVar NCBI chr MT:14,747...15,887
Ensembl chr MT:14,747...15,887 		JBrowse link
G MTR 5-methyltetrahydrofolate-homocysteine methyltransferase susceptibility IAGP DNA:SNPs,haplotypes:multiple RGD PMID:20458436 RGD:401794454 NCBI chr 1:236,795,281...236,903,981
Ensembl chr 1:236,795,260...236,921,278 		JBrowse link
G MYH11 myosin heavy chain 11 IAGP HPO ORPHA:91387 NCBI chr16:15,703,135...15,857,028
Ensembl chr16:15,703,135...15,858,438 		JBrowse link
G MYLK myosin light chain kinase IAGP HPO ORPHA:91387 NCBI chr 3:123,610,049...123,884,332
Ensembl chr 3:123,610,049...123,884,332 		JBrowse link
G NOS3 nitric oxide synthase 3 IAGP ClinVar Annotator: match by term: Ischemic stroke ClinVar PMID:9737779 PMID:9894802 PMID:10475066 PMID:10510054 PMID:10514107 More... NCBI chr 7:150,991,017...151,014,588
Ensembl chr 7:150,991,017...151,014,588 		JBrowse link
G NOTCH3 notch receptor 3 IAGP ClinVar Annotator: match by term: Ischemic stroke ClinVar
HPO		 PMID:9388399 PMID:10371548 PMID:10802804 PMID:10854111 PMID:11102981 More... ORPHA:136 NCBI chr19:15,159,038...15,200,995
Ensembl chr19:15,159,038...15,200,995 		JBrowse link
G NPPA natriuretic peptide A IAGP HPO ORPHA:1344 NCBI chr 1:11,845,709...11,847,783
Ensembl chr 1:11,845,709...11,848,345 		JBrowse link
G NR1H3 nuclear receptor subfamily 1 group H member 3 susceptibility IAGP DNA:SNPs, haplotype:promoter:c.-115G>A, c.-840C>A (rs12221497, rs61896015) RGD PMID:21903943 RGD:401842365 NCBI chr11:47,248,300...47,269,033
Ensembl chr11:47,248,300...47,269,033 		JBrowse link
G PHACTR1 phosphatase and actin regulator 1 IAGP DNA:SNP:intron: (rs12526453) RGD PMID:23042660 RGD:401900685 NCBI chr 6:12,716,767...13,287,837
Ensembl chr 6:12,716,312...13,290,446 		JBrowse link
G PON2 paraoxonase 2 susceptibility IAGP DNA:SNPs,haplotypes: (rs11545941, rs6954345) (human) RGD PMID:20458436 RGD:401794454 NCBI chr 7:95,404,862...95,435,028
Ensembl chr 7:95,404,862...95,435,329 		JBrowse link
G PRKCH protein kinase C eta IAGP ClinVar Annotator: match by term: Ischemic stroke ClinVar PMID:17206144 PMID:25741868 NCBI chr14:61,187,468...61,550,976
Ensembl chr14:61,187,559...61,550,980 		JBrowse link
G PRKCH-AS1 PRKCH antisense RNA 1 IAGP ClinVar Annotator: match by term: Ischemic stroke ClinVar PMID:17206144 PMID:25741868 NCBI chr14:61,294,700...61,322,818
Ensembl chr14:61,294,909...61,322,838 		JBrowse link
G PRKG1 protein kinase cGMP-dependent 1 IAGP HPO ORPHA:91387 NCBI chr10:50,990,888...52,298,350
Ensembl chr10:50,990,888...52,298,423 		JBrowse link
G PTGIS prostaglandin I2 synthase exacerbates IAGP DNA:SNP, haplotype:3' utr: (rs5602)
DNA:SNPs:exon, 3' utr: (rs5629, rs5602)		 RGD PMID:28478978 PMID:28108096 RGD:401901149, RGD:401959400 NCBI chr20:49,503,874...49,568,137
Ensembl chr20:49,503,874...49,568,137 		JBrowse link
G SCN5A sodium voltage-gated channel alpha subunit 5 IAGP HPO ORPHA:1344 NCBI chr 3:38,548,062...38,649,687
Ensembl chr 3:38,548,057...38,649,743 		JBrowse link
G SELL selectin L susceptibility IAGP DNA:missense mutation:cds:p.P213S (human) RGD PMID:21465128 RGD:5685695 NCBI chr 1:169,690,667...169,711,620
Ensembl chr 1:169,690,665...169,711,702 		JBrowse link
G SLC2A10 solute carrier family 2 member 10 IAGP HPO MIM:208050 NCBI chr20:46,708,320...46,736,347
Ensembl chr20:46,709,649...46,736,347 		JBrowse link
G SMAD2 SMAD family member 2 IAGP HPO ORPHA:91387 NCBI chr18:47,808,957...47,930,872
Ensembl chr18:47,808,957...47,931,146 		JBrowse link
G SMAD3 SMAD family member 3 IAGP HPO ORPHA:91387 NCBI chr15:67,065,602...67,195,169
Ensembl chr15:67,063,763...67,195,173 		JBrowse link
G SMAD4 SMAD family member 4 IAGP HPO ORPHA:91387 NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,528...51,085,045 		JBrowse link
G SMARCAL1 SNF2 related chromatin remodeling annealing helicase 1 IAGP HPO ORPHA:1830 NCBI chr 2:216,412,484...216,483,053
Ensembl chr 2:216,412,383...216,483,053 		JBrowse link
G SON SON DNA and RNA binding protein IAGP HPO ORPHA:500150 NCBI chr21:33,543,038...33,577,481
Ensembl chr21:33,543,038...33,577,481 		JBrowse link
G TGFB2 transforming growth factor beta 2 IAGP HPO ORPHA:91387 NCBI chr 1:218,345,336...218,444,619
Ensembl chr 1:218,345,336...218,444,619 		JBrowse link
G TGFB3 transforming growth factor beta 3 IAGP HPO ORPHA:91387 NCBI chr14:75,958,097...75,983,011
Ensembl chr14:75,958,097...75,983,011 		JBrowse link
G TGFBR1 transforming growth factor beta receptor 1 IAGP HPO ORPHA:91387 NCBI chr 9:99,103,647...99,154,192
Ensembl chr 9:99,104,038...99,154,192 		JBrowse link
G TGFBR2 transforming growth factor beta receptor 2 IAGP HPO ORPHA:91387 NCBI chr 3:30,606,356...30,694,142
Ensembl chr 3:30,606,478...30,694,249 		JBrowse link
G THBD thrombomodulin susceptibility IAGP DNA:missense mutation:cds:p.A455V RGD PMID:15574195 RGD:5685021 NCBI chr20:23,045,633...23,049,672
Ensembl chr20:23,045,633...23,049,672 		JBrowse link
G THSD4 thrombospondin type 1 domain containing 4 IAGP HPO ORPHA:91387 NCBI chr15:71,096,894...71,783,383
Ensembl chr15:71,096,952...71,783,383 		JBrowse link
G TYMS thymidylate synthetase susceptibility IAGP DNA:SNPs,haplotypes: (rs502396,rs16430,rs8423) RGD PMID:20458436 RGD:401794454 NCBI chr18:657,653...673,578
Ensembl chr18:657,653...673,578 		JBrowse link
Lacunar stroke term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL4A1 collagen type IV alpha 1 chain IAGP HPO MIM:611773 NCBI chr13:110,148,963...110,307,157
Ensembl chr13:110,148,963...110,307,202 		JBrowse link
G COLGALT1 collagen beta(1-O)galactosyltransferase 1 IAGP HPO MIM:618360 NCBI chr19:17,555,649...17,583,157
Ensembl chr19:17,555,649...17,583,162 		JBrowse link
G HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1 susceptibility IAGP DNA:polymorphisms:cds:HLA-DQA1*0103, HLA-DQA1*0301 RGD PMID:11798899 RGD:5147807 NCBI chr 6:32,637,406...32,655,272
Ensembl chr 6:32,628,179...32,647,062 		JBrowse link
G HTRA1 HtrA serine peptidase 1 IAGP HPO MIM:600142 MIM:616779 NCBI chr10:122,461,553...122,514,907
Ensembl chr10:122,458,551...122,514,907 		JBrowse link
G KALRN kalirin RhoGEF kinase susceptibility IAGP DNA:SNP:intron: (rs6438833) (human) RGD PMID:25917671 RGD:11085239 NCBI chr 3:124,033,369...124,726,325
Ensembl chr 3:124,033,369...124,726,325 		JBrowse link
G NAGA alpha-N-acetylgalactosaminidase IAGP HPO MIM:609242 NCBI chr22:42,058,334...42,070,842
Ensembl chr22:42,058,334...42,070,842 		JBrowse link
G NOTCH3 notch receptor 3 IAGP HPO MIM:125310 ORPHA:136 NCBI chr19:15,159,038...15,200,995
Ensembl chr19:15,159,038...15,200,995 		JBrowse link
G PIK3C2A phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha IAGP HPO MIM:618440 NCBI chr11:17,086,575...17,207,986
Ensembl chr11:17,077,730...17,207,986 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 95636
    Phenotypic abnormality 95258
      Abnormality of the nervous system 33675
        Abnormal nervous system morphology 8689
          Morphological central nervous system abnormality 8572
            Abnormal brain morphology 4283
              Abnormal forebrain morphology 3119
                Abnormal cerebral morphology 3010
                  Cerebral infarct 689
                    Ischemic stroke + 686
paths to the root