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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:Subcutaneous hemorrhage
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Accession:HP:0001933 term browser browse the term
Definition:This term refers to an abnormally increased susceptibility to bruising (purpura, petechiae, or ecchymoses).
Comment:Purpura measure 0.3-1 cm (3-10 mm), whereas petechiae measure less than 3 mm, and ecchymoses greater than 1 cm.
Synonyms:exact_synonym: Bleeding below the skin;   Subcutaneous haemorrhage
 xref: UMLS:C0854107



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Subcutaneous hemorrhage term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CBS cystathionine beta-synthase IAGP ORPHA:394 HPO NCBI chr21:43,053,191...43,076,873
Ensembl chr21:43,053,191...43,076,943
JBrowse link
G EPHB2 EPH receptor B2 IAGP OMIM:618462 HPO NCBI chr 1:22,710,838...22,921,500
Ensembl chr 1:22,710,839...22,921,500
JBrowse link
G F13A1 coagulation factor XIII A chain IAGP DNA:nonsense, missense mutations:exons:p.R661X,p.T242M(human) RGD PMID:8025280 RGD:11041811 NCBI chr 6:6,144,084...6,320,662
Ensembl chr 6:6,144,084...6,321,013
JBrowse link
G JAM2 junctional adhesion molecule 2 IAGP ORPHA:1980 HPO NCBI chr21:25,639,258...25,717,562
Ensembl chr21:25,639,258...25,717,562
JBrowse link
G MYORG myogenesis regulating glycosidase (putative) IAGP ORPHA:1980 HPO NCBI chr 9:34,366,666...34,376,898
Ensembl chr 9:34,366,666...34,376,898
JBrowse link
G PDGFB platelet derived growth factor subunit B IAGP ORPHA:1980 HPO NCBI chr22:39,223,359...39,244,982
Ensembl chr22:39,223,359...39,244,982
JBrowse link
G PDGFRB platelet derived growth factor receptor beta IAGP ORPHA:1980 HPO NCBI chr 5:150,113,839...150,155,845
Ensembl chr 5:150,113,839...150,155,872
JBrowse link
G PTEN phosphatase and tensin homolog IAGP ORPHA:109 HPO NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930
JBrowse link
G SERPINE1 serpin family E member 1 IAGP ORPHA:465 HPO NCBI chr 7:101,127,104...101,139,247
Ensembl chr 7:101,127,104...101,139,247
JBrowse link
G SLC20A2 solute carrier family 20 member 2 IAGP ORPHA:1980 HPO NCBI chr 8:42,416,475...42,541,954
Ensembl chr 8:42,416,475...42,541,926
JBrowse link
G SLC35A1 solute carrier family 35 member A1 IAGP OMIM:603585 ORPHA:238459 HPO NCBI chr 6:87,472,974...87,512,336
Ensembl chr 6:87,470,623...87,512,336
JBrowse link
G XPR1 xenotropic and polytropic retrovirus receptor 1 IAGP ORPHA:1980 HPO NCBI chr 1:180,632,022...180,890,279
Ensembl chr 1:180,632,022...180,890,279
JBrowse link
Bruising susceptibility term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCC6 ATP binding cassette subfamily C member 6 IAGP ORPHA:758 HPO NCBI chr16:16,149,565...16,223,494
Ensembl chr16:16,149,565...16,223,522
JBrowse link
G ACTA2 actin alpha 2, smooth muscle IAGP ORPHA:91387 HPO NCBI chr10:88,935,074...88,991,397
Ensembl chr10:88,935,074...88,991,339
JBrowse link
G ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif 2 IAGP OMIM:225410 HPO NCBI chr 5:179,110,853...179,345,461
Ensembl chr 5:179,110,853...179,345,461
JBrowse link
G AEBP1 AE binding protein 1 IAGP OMIM:618000 HPO NCBI chr 7:44,104,345...44,114,560
Ensembl chr 7:44,104,345...44,114,562
JBrowse link
G AIP aryl hydrocarbon receptor interacting protein IAGP OMIM:219090 HPO NCBI chr11:67,483,026...67,491,103
Ensembl chr11:67,468,174...67,491,154
JBrowse link
G ANKRD26 ankyrin repeat domain containing 26 IAGP OMIM:188000 HPO NCBI chr10:26,947,582...27,100,494
Ensembl chr10:26,973,793...27,100,494
JBrowse link
G ARMC5 armadillo repeat containing 5 IAGP ORPHA:189427 HPO NCBI chr16:31,458,304...31,467,167
Ensembl chr16:31,458,080...31,467,166
JBrowse link
G ATP7A ATPase copper transporting alpha IAGP OMIM:304150 ORPHA:198 HPO NCBI chr  X:77,910,693...78,050,395
Ensembl chr  X:77,910,690...78,050,395
JBrowse link
G ATP7B ATPase copper transporting beta IAGP ORPHA:905 HPO NCBI chr13:51,932,669...52,012,132
Ensembl chr13:51,930,436...52,012,125
JBrowse link
G ATRX ATRX chromatin remodeler IAGP ORPHA:231401 HPO NCBI chr  X:77,504,880...77,786,216
Ensembl chr  X:77,504,880...77,786,233
JBrowse link
G B3GALT6 beta-1,3-galactosyltransferase 6 IAGP ORPHA:536467 HPO NCBI chr 1:1,232,237...1,235,041
Ensembl chr 1:1,232,237...1,235,041
JBrowse link
G BCOR BCL6 corepressor IAGP ORPHA:520 HPO NCBI chr  X:40,051,246...40,177,329
Ensembl chr  X:40,049,815...40,177,329
JBrowse link
G BLOC1S3 biogenesis of lysosomal organelles complex 1 subunit 3 IAGP OMIM:614077 HPO NCBI chr19:45,178,784...45,217,083
Ensembl chr19:45,178,784...45,216,933
JBrowse link
G BLOC1S5 biogenesis of lysosomal organelles complex 1 subunit 5 IAGP OMIM:619172 HPO NCBI chr 6:8,013,567...8,064,414
Ensembl chr 6:8,013,567...8,064,396
JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase IAGP OMIM:163950 HPO NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929
JBrowse link
G C1R complement C1r IAGP OMIM:130080 HPO NCBI chr12:7,080,219...7,092,445
Ensembl chr12:7,080,214...7,092,540
JBrowse link
G C1S complement C1s IAGP OMIM:617174 HPO NCBI chr12:7,060,718...7,071,032
Ensembl chr12:6,988,259...7,071,032
JBrowse link
G CASP10 caspase 10 IAGP ORPHA:3261 HPO NCBI chr 2:201,183,141...201,229,406
Ensembl chr 2:201,182,872...201,229,428
JBrowse link
G CDH23 cadherin related 23 IAGP ORPHA:96253 HPO NCBI chr10:71,396,920...71,815,947
Ensembl chr10:71,396,920...71,815,947
JBrowse link
G CHST14 carbohydrate sulfotransferase 14 IAGP OMIM:601776 HPO NCBI chr15:40,470,984...40,473,158
Ensembl chr15:40,470,984...40,473,158
JBrowse link
G CLCN7 chloride voltage-gated channel 7 IAGP ORPHA:667 HPO NCBI chr16:1,444,935...1,475,028
Ensembl chr16:1,444,934...1,475,084
JBrowse link
G COL1A1 collagen type I alpha 1 chain IAGP OMIM:130060 OMIM:166200 OMIM:619115 ORPHA:287
ClinVar Annotator: match by term: Bruise easily
HPO
ClinVar
PMID:10739762 PMID:17211858 PMID:23587214 PMID:25597651 PMID:25741868 More... NCBI chr17:50,184,101...50,201,631
Ensembl chr17:50,184,101...50,201,632
JBrowse link
G COL1A2 collagen type I alpha 2 chain IAGP OMIM:225320 OMIM:617821 OMIM:619120 ORPHA:230851 HPO NCBI chr 7:94,394,895...94,431,227
Ensembl chr 7:94,394,895...94,431,227
JBrowse link
G COL3A1 collagen type III alpha 1 chain IAGP OMIM:130050 OMIM:618343 ORPHA:286 HPO NCBI chr 2:188,974,373...189,012,746
Ensembl chr 2:188,974,373...189,012,746
JBrowse link
G COL5A1 collagen type V alpha 1 chain IAGP OMIM:130000 ORPHA:287 HPO NCBI chr 9:134,641,803...134,844,843
Ensembl chr 9:134,641,803...134,844,843
JBrowse link
G COL5A2 collagen type V alpha 2 chain IAGP OMIM:130010 ORPHA:287 HPO NCBI chr 2:189,031,898...189,441,111
Ensembl chr 2:189,031,898...189,225,312
JBrowse link
G DSE dermatan sulfate epimerase IAGP ORPHA:2953 HPO NCBI chr 6:116,254,171...116,444,861
Ensembl chr 6:116,254,173...116,444,861
JBrowse link
G DTNBP1 dystrobrevin binding protein 1 IAGP OMIM:614076 HPO NCBI chr 6:15,522,807...15,663,058
Ensembl chr 6:15,522,807...15,663,058
JBrowse link
G ELN elastin IAGP ORPHA:91387
ClinVar Annotator: match by term: Bruising susceptibility
HPO
ClinVar
PMID:25741868 NCBI chr 7:74,028,173...74,069,907
Ensembl chr 7:74,027,789...74,069,907
JBrowse link
G ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 IAGP ORPHA:758 HPO NCBI chr 6:131,808,020...131,895,155
Ensembl chr 6:131,808,016...131,895,155
JBrowse link
G ETV6 ETS variant transcription factor 6 IAGP OMIM:616216 HPO NCBI chr12:11,649,674...11,895,377
Ensembl chr12:11,649,674...11,895,377
JBrowse link
G F10 coagulation factor X IAGP ORPHA:328 HPO NCBI chr13:113,122,799...113,149,529
Ensembl chr13:113,122,799...113,149,529
JBrowse link
G F13A1 coagulation factor XIII A chain IAGP OMIM:613225 ORPHA:331 HPO NCBI chr 6:6,144,084...6,320,662
Ensembl chr 6:6,144,084...6,321,013
JBrowse link
G F13B coagulation factor XIII B chain IAGP OMIM:613235 ORPHA:331 HPO NCBI chr 1:197,038,741...197,067,260
Ensembl chr 1:197,038,741...197,067,260
JBrowse link
G F2 coagulation factor II, thrombin IAGP OMIM:613679 HPO NCBI chr11:46,719,213...46,739,506
Ensembl chr11:46,719,196...46,739,506
JBrowse link
G F5 coagulation factor V IAGP OMIM:227400 HPO NCBI chr 1:169,511,951...169,586,481
Ensembl chr 1:169,511,951...169,586,588
JBrowse link
G F7 coagulation factor VII IAGP ORPHA:327 HPO NCBI chr13:113,105,788...113,120,685
Ensembl chr13:113,105,788...113,120,685
JBrowse link
G F8 coagulation factor VIII IAGP OMIM:306700 ORPHA:169802 ORPHA:177926 HPO NCBI chr  X:154,835,792...155,022,723
Ensembl chr  X:154,835,788...155,026,940
JBrowse link
G FANCA FA complementation group A IAGP OMIM:227650 HPO NCBI chr16:89,737,549...89,816,647
Ensembl chr16:89,726,683...89,816,977
JBrowse link
G FANCC FA complementation group C IAGP OMIM:227645 HPO NCBI chr 9:95,099,054...95,317,709
Ensembl chr 9:95,099,054...95,426,796
JBrowse link
G FANCD2 FA complementation group D2 IAGP OMIM:227646 HPO NCBI chr 3:10,026,437...10,101,932
Ensembl chr 3:10,026,370...10,101,932
JBrowse link
G FANCE FA complementation group E IAGP OMIM:600901 HPO NCBI chr 6:35,452,338...35,467,102
Ensembl chr 6:35,452,338...35,467,104
JBrowse link
G FAS Fas cell surface death receptor IAGP ORPHA:3261 HPO NCBI chr10:88,964,050...89,017,059
Ensembl chr10:88,953,813...89,029,605
JBrowse link
G FASLG Fas ligand IAGP ORPHA:3261 HPO NCBI chr 1:172,659,103...172,666,876
Ensembl chr 1:172,659,103...172,666,876
JBrowse link
G FBN1 fibrillin 1 IAGP OMIM:616914 ORPHA:91387 HPO NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721
JBrowse link
G FCGR2C Fc gamma receptor IIc (gene/pseudogene) IAGP ORPHA:3002 HPO NCBI chr 1:161,581,339...161,601,220
Ensembl chr 1:161,581,339...161,605,662
JBrowse link
G FIP1L1 factor interacting with PAPOLA and CPSF1 IAGP ORPHA:520 HPO NCBI chr 4:53,377,641...53,460,862
Ensembl chr 4:53,377,641...53,460,862
JBrowse link
G FKBP14 FKBP prolyl isomerase 14 IAGP OMIM:614557 ORPHA:300179 HPO NCBI chr 7:30,005,923...30,026,702
Ensembl chr 7:30,010,587...30,026,702
JBrowse link
G FLNA filamin A IAGP ORPHA:75497 HPO NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634
JBrowse link
G FOXE3 forkhead box E3 IAGP ORPHA:91387 HPO NCBI chr 1:47,416,285...47,418,052
Ensembl chr 1:47,416,285...47,418,052
JBrowse link
G GATA1 GATA binding protein 1 IAGP OMIM:300367 OMIM:314050 HPO NCBI chr  X:48,786,590...48,794,311
Ensembl chr  X:48,786,540...48,794,311
JBrowse link
G GATA2 GATA binding protein 2 IAGP ORPHA:3226 HPO NCBI chr 3:128,479,422...128,493,201
Ensembl chr 3:128,479,427...128,493,201
JBrowse link
G GBA glucosylceramidase beta IAGP ORPHA:77259 HPO NCBI chr 1:155,234,452...155,244,627
Ensembl chr 1:155,234,452...155,244,699
JBrowse link
G GFI1B growth factor independent 1B transcriptional repressor IAGP OMIM:187900 HPO NCBI chr 9:132,945,531...132,993,434
Ensembl chr 9:132,944,000...132,991,687
JBrowse link
G GGCX gamma-glutamyl carboxylase IAGP OMIM:277450 HPO NCBI chr 2:85,544,720...85,561,493
Ensembl chr 2:85,544,720...85,561,532
JBrowse link
G GNAS GNAS complex locus IAGP OMIM:219080 HPO NCBI chr20:58,839,748...58,911,192
Ensembl chr20:58,839,718...58,911,192
JBrowse link
G GP1BA glycoprotein Ib platelet subunit alpha IAGP OMIM:153670 ORPHA:274 HPO NCBI chr17:4,932,277...4,935,023
Ensembl chr17:4,932,277...4,935,023
JBrowse link
G GP1BB glycoprotein Ib platelet subunit beta IAGP ORPHA:274 HPO NCBI chr22:19,723,539...19,724,771
Ensembl chr22:19,723,539...19,724,771
JBrowse link
G GP6 glycoprotein VI platelet IAGP OMIM:614201 HPO NCBI chr19:55,013,705...55,038,264
Ensembl chr19:55,013,705...55,038,264
JBrowse link
G GP9 glycoprotein IX platelet IAGP ORPHA:274 HPO NCBI chr 3:129,054,845...129,062,406
Ensembl chr 3:129,060,779...129,062,406
JBrowse link
G GSN gelsolin IAGP ORPHA:85448 HPO NCBI chr 9:121,201,483...121,332,842
Ensembl chr 9:121,207,794...121,332,843
JBrowse link
G HBA1 hemoglobin subunit alpha 1 IAGP ORPHA:98791 HPO NCBI chr16:176,680...177,522
Ensembl chr16:176,680...177,522
JBrowse link
G HBA2 hemoglobin subunit alpha 2 IAGP ORPHA:98791 HPO NCBI chr16:172,876...173,710
Ensembl chr16:172,876...173,710
JBrowse link
G HEY2 hes related family bHLH transcription factor with YRPW motif 2 IAGP ORPHA:91387 HPO NCBI chr 6:125,749,632...125,761,269
Ensembl chr 6:125,747,664...125,761,269
JBrowse link
G HPS1 HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 IAGP OMIM:203300 HPO NCBI chr10:98,413,948...98,446,935
Ensembl chr10:98,416,198...98,446,935
JBrowse link
G HPS3 HPS3 biogenesis of lysosomal organelles complex 2 subunit 1 IAGP OMIM:614072 HPO NCBI chr 3:149,129,638...149,173,732
Ensembl chr 3:149,129,638...149,173,732
JBrowse link
G HPS4 HPS4 biogenesis of lysosomal organelles complex 3 subunit 2 IAGP OMIM:614073 HPO NCBI chr22:26,443,109...26,483,863
Ensembl chr22:26,443,423...26,483,837
JBrowse link
G HPS5 HPS5 biogenesis of lysosomal organelles complex 2 subunit 2 IAGP OMIM:614074 HPO NCBI chr11:18,278,670...18,322,174
Ensembl chr11:18,278,668...18,322,198
JBrowse link
G HPS6 HPS6 biogenesis of lysosomal organelles complex 2 subunit 3 IAGP OMIM:614075 HPO NCBI chr10:102,065,349...102,068,036
Ensembl chr10:102,065,349...102,068,036
JBrowse link
G IPO8 importin 8 IAGP OMIM:619472 HPO NCBI chr12:30,628,988...30,695,869
Ensembl chr12:30,628,988...30,695,869
JBrowse link
G IRF2BP2 interferon regulatory factor 2 binding protein 2 IAGP ORPHA:520 HPO NCBI chr 1:234,604,269...234,610,178
Ensembl chr 1:234,604,269...234,610,178
JBrowse link
G ITGA2B integrin subunit alpha 2b IAGP OMIM:273800 ORPHA:849 HPO NCBI chr17:44,372,181...44,389,649
Ensembl chr17:44,372,180...44,389,649
JBrowse link
G ITGB3 integrin subunit beta 3 IAGP OMIM:619267 ORPHA:849 HPO NCBI chr17:47,253,827...47,313,743
Ensembl chr17:47,253,827...47,313,743
JBrowse link
G JAK2 Janus kinase 2 IAGP ORPHA:729 HPO NCBI chr 9:4,984,390...5,129,948
Ensembl chr 9:4,984,390...5,129,948
JBrowse link
G KRAS KRAS proto-oncogene, GTPase IAGP OMIM:609942 HPO NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936
JBrowse link
G LMAN1 lectin, mannose binding 1 IAGP ORPHA:35909 HPO NCBI chr18:59,327,823...59,359,265
Ensembl chr18:59,327,823...59,359,265
JBrowse link
G LOX lysyl oxidase IAGP ORPHA:91387 HPO NCBI chr 5:122,063,195...122,078,259
Ensembl chr 5:122,063,195...122,078,413
JBrowse link
G LYST lysosomal trafficking regulator IAGP OMIM:214500 ORPHA:167 ORPHA:352723 HPO NCBI chr 1:235,661,031...235,883,713
Ensembl chr 1:235,661,041...235,883,640
JBrowse link
G MAP2K1 mitogen-activated protein kinase kinase 1 IAGP OMIM:163950 HPO NCBI chr15:66,386,912...66,491,544
Ensembl chr15:66,386,837...66,491,656
JBrowse link
G MAPK1 mitogen-activated protein kinase 1 IAGP OMIM:619087 HPO NCBI chr22:21,759,657...21,867,680
Ensembl chr22:21,759,657...21,867,680
JBrowse link
G MAT2A methionine adenosyltransferase 2A IAGP ORPHA:91387 HPO NCBI chr 2:85,539,168...85,545,281
Ensembl chr 2:85,539,168...85,545,281
JBrowse link
G MCFD2 multiple coagulation factor deficiency 2, ER cargo receptor complex subunit IAGP ORPHA:35909 HPO NCBI chr 2:46,901,870...46,941,855
Ensembl chr 2:46,901,870...46,941,855
JBrowse link
G MFAP5 microfibril associated protein 5 IAGP ORPHA:91387 HPO NCBI chr12:8,645,943...8,662,826
Ensembl chr12:8,637,346...8,662,888
JBrowse link
G MPL MPL proto-oncogene, thrombopoietin receptor IAGP ORPHA:729 HPO NCBI chr 1:43,337,818...43,354,466
Ensembl chr 1:43,337,818...43,354,466
JBrowse link
G MTAP methylthioadenosine phosphorylase IAGP OMIM:112250 HPO NCBI chr 9:21,802,636...21,941,115
Ensembl chr 9:21,802,636...21,937,651
JBrowse link
G MYH11 myosin heavy chain 11 IAGP ORPHA:91387 HPO NCBI chr16:15,703,135...15,857,028
Ensembl chr16:15,703,135...15,857,028
JBrowse link
G MYH9 myosin heavy chain 9 IAGP OMIM:155100 ORPHA:182050 HPO NCBI chr22:36,281,280...36,387,967
Ensembl chr22:36,281,280...36,388,010
JBrowse link
G MYLK myosin light chain kinase IAGP ORPHA:91387 HPO NCBI chr 3:123,610,049...123,884,332
Ensembl chr 3:123,610,049...123,884,332
JBrowse link
G NABP1 nucleic acid binding protein 1 IAGP ORPHA:520 HPO NCBI chr 2:191,678,136...191,686,943
Ensembl chr 2:191,678,068...191,741,097
JBrowse link
G NBEAL2 neurobeachin like 2 IAGP OMIM:139090 ORPHA:721 HPO NCBI chr 3:46,979,666...47,009,701
Ensembl chr 3:46,979,666...47,009,704
JBrowse link
G NFIX nuclear factor I X IAGP ORPHA:561 HPO NCBI chr19:12,995,475...13,098,796
Ensembl chr19:12,995,475...13,098,796
JBrowse link
G NPM1 nucleophosmin 1 IAGP ORPHA:520 HPO NCBI chr 5:171,387,116...171,410,900
Ensembl chr 5:171,387,116...171,411,810
JBrowse link
G NTRK1 neurotrophic receptor tyrosine kinase 1 IAGP ORPHA:642 HPO NCBI chr 1:156,815,750...156,881,850
Ensembl chr 1:156,815,640...156,881,850
JBrowse link
G NUMA1 nuclear mitotic apparatus protein 1 IAGP ORPHA:520 HPO NCBI chr11:72,002,864...72,080,542
Ensembl chr11:72,002,864...72,080,693
JBrowse link
G P2RY12 purinergic receptor P2Y12 IAGP OMIM:609821 HPO NCBI chr 3:151,336,843...151,384,753
Ensembl chr 3:151,336,843...151,384,753
JBrowse link
G PDE11A phosphodiesterase 11A IAGP ORPHA:189439 HPO NCBI chr 2:177,623,244...178,108,339
Ensembl chr 2:177,623,244...178,108,339
JBrowse link
G PDE8B phosphodiesterase 8B IAGP ORPHA:189439 HPO NCBI chr 5:77,180,304...77,428,256
Ensembl chr 5:77,210,449...77,428,256
JBrowse link
G PLAU plasminogen activator, urokinase IAGP OMIM:601709 HPO NCBI chr10:73,909,164...73,917,494
Ensembl chr10:73,909,177...73,917,496
JBrowse link
G PLEC plectin IAGP OMIM:131950 HPO NCBI chr 8:143,915,153...143,976,745
Ensembl chr 8:143,915,153...143,976,734
JBrowse link
G PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 IAGP ORPHA:1900 HPO NCBI chr 1:11,934,717...11,975,537
Ensembl chr 1:11,934,205...11,975,538
JBrowse link
G PLOD3 procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 IAGP OMIM:612394 HPO NCBI chr 7:101,205,984...101,217,581
Ensembl chr 7:101,205,977...101,218,420
JBrowse link
G PML PML nuclear body scaffold IAGP ORPHA:520 HPO NCBI chr15:73,994,716...74,047,827
Ensembl chr15:73,994,673...74,047,827
JBrowse link
G PRDM5 PR/SET domain 5 IAGP ORPHA:90354 HPO NCBI chr 4:120,684,291...120,922,726
Ensembl chr 4:120,684,919...120,922,870
JBrowse link
G PRF1 perforin 1 IAGP ORPHA:540 HPO NCBI chr10:70,597,348...70,602,741
Ensembl chr10:70,597,348...70,602,759
JBrowse link
G PRKACA protein kinase cAMP-activated catalytic subunit alpha IAGP ORPHA:189439 HPO NCBI chr19:14,091,688...14,117,762
Ensembl chr19:14,091,688...14,118,084
JBrowse link
G PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha IAGP OMIM:610489 ORPHA:1359 ORPHA:189439 ORPHA:520 HPO NCBI chr17:68,413,623...68,551,316
Ensembl chr17:68,511,780...68,551,319
JBrowse link
G PRKCD protein kinase C delta IAGP ORPHA:3261 HPO NCBI chr 3:53,161,209...53,192,717
Ensembl chr 3:53,156,009...53,192,717
JBrowse link
G PRKG1 protein kinase cGMP-dependent 1 IAGP ORPHA:91387 HPO NCBI chr10:50,990,888...52,298,350
Ensembl chr10:50,990,888...52,298,423
JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 IAGP OMIM:163950 HPO NCBI chr12:112,418,947...112,509,918
Ensembl chr12:112,418,351...112,509,918
JBrowse link
G RARA retinoic acid receptor alpha IAGP ORPHA:520 HPO NCBI chr17:40,309,180...40,357,643
Ensembl chr17:40,309,180...40,357,643
JBrowse link
G RASGRP1 RAS guanyl releasing protein 1 IAGP ORPHA:3261 HPO NCBI chr15:38,488,103...38,564,814
Ensembl chr15:38,488,103...38,565,575
JBrowse link
G RIN2 Ras and Rab interactor 2 IAGP OMIM:613075 ORPHA:217335 HPO NCBI chr20:19,757,599...20,002,456
Ensembl chr20:19,757,606...20,002,457
JBrowse link
G RUNX1 RUNX family transcription factor 1 IAGP OMIM:601399 HPO NCBI chr21:34,787,801...35,049,302
Ensembl chr21:34,787,801...36,004,667
JBrowse link
G SCARB2 scavenger receptor class B member 2 IAGP ORPHA:77259 HPO NCBI chr 4:76,158,737...76,234,532
Ensembl chr 4:76,158,737...76,234,536
JBrowse link
G SERPINF2 serpin family F member 2 IAGP OMIM:262850 ORPHA:79 HPO NCBI chr17:1,742,871...1,755,265
Ensembl chr17:1,742,836...1,755,265
JBrowse link
G SIK3 SIK family kinase 3 IAGP OMIM:618162 HPO NCBI chr11:116,843,402...117,098,428
Ensembl chr11:116,843,402...117,098,437
JBrowse link
G SLC2A10 solute carrier family 2 member 10 IAGP OMIM:208050 HPO NCBI chr20:46,708,320...46,736,347
Ensembl chr20:46,709,649...46,736,347
JBrowse link
G SLC37A4 solute carrier family 37 member 4 IAGP ORPHA:79259 HPO NCBI chr11:119,024,112...119,030,877
Ensembl chr11:119,024,114...119,030,906
JBrowse link
G SLC39A13 solute carrier family 39 member 13 IAGP OMIM:612350 ORPHA:157965 HPO NCBI chr11:47,407,276...47,416,500
Ensembl chr11:47,407,132...47,416,496
JBrowse link
G SLC51A solute carrier family 51 subunit alpha IAGP OMIM:619484 HPO NCBI chr 3:196,216,534...196,233,427
Ensembl chr 3:196,211,487...196,243,178
JBrowse link
G SLFN14 schlafen family member 14 IAGP OMIM:616913 HPO NCBI chr17:35,543,985...35,560,819
Ensembl chr17:35,543,985...35,560,819
JBrowse link
G SMAD2 SMAD family member 2 IAGP ORPHA:91387 HPO 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 OMIM:613795 ORPHA:284984 ORPHA:91387 HPO 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 ORPHA:91387 HPO NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,394...51,085,045
JBrowse link
G SNX10 sorting nexin 10 IAGP ORPHA:667 HPO NCBI chr 7:26,291,862...26,374,383
Ensembl chr 7:26,291,862...26,374,383
JBrowse link
G SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 IAGP OMIM:610733 HPO NCBI chr 2:38,981,549...39,124,868
Ensembl chr 2:38,962,206...39,124,345
JBrowse link
G SPRED2 sprouty related EVH1 domain containing 2 IAGP OMIM:619745 HPO NCBI chr 2:65,307,175...65,432,599
Ensembl chr 2:65,310,851...65,432,637
JBrowse link
G STAT3 signal transducer and activator of transcription 3 IAGP ORPHA:520 HPO NCBI chr17:42,313,324...42,388,442
Ensembl chr17:42,313,324...42,388,540
JBrowse link
G STAT5B signal transducer and activator of transcription 5B IAGP ORPHA:520 HPO NCBI chr17:42,199,177...42,288,370
Ensembl chr17:42,199,177...42,276,707
JBrowse link
G STX11 syntaxin 11 IAGP ORPHA:540 HPO NCBI chr 6:144,139,963...144,191,939
Ensembl chr 6:144,150,517...144,191,939
JBrowse link
G STXBP2 syntaxin binding protein 2 IAGP ORPHA:540 HPO NCBI chr19:7,637,110...7,647,873
Ensembl chr19:7,636,881...7,647,873
JBrowse link
G TBL1XR1 TBL1X/Y related 1 IAGP ORPHA:520 HPO NCBI chr 3:177,019,344...177,201,800
Ensembl chr 3:177,019,340...177,228,000
JBrowse link
G TBXA2R thromboxane A2 receptor IAGP OMIM:614009 HPO NCBI chr19:3,594,507...3,606,875
Ensembl chr19:3,594,507...3,606,875
JBrowse link
G TCIRG1 T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 IAGP ORPHA:667 HPO NCBI chr11:68,039,025...68,053,762
Ensembl chr11:68,039,025...68,050,895
JBrowse link
G TET2 tet methylcytosine dioxygenase 2 IAGP ORPHA:729 HPO NCBI chr 4:105,145,875...105,279,803
Ensembl chr 4:105,145,875...105,279,816
JBrowse link
G TGFB2 transforming growth factor beta 2 IAGP OMIM:614816 ORPHA:91387 HPO 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 OMIM:615582 ORPHA:91387 HPO 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 ORPHA:60030 ORPHA:91387 HPO NCBI chr 9:99,104,038...99,154,192
Ensembl chr 9:99,104,038...99,154,192
JBrowse link
G TGFBR2 transforming growth factor beta receptor 2 IAGP ORPHA:60030 ORPHA:91387 HPO NCBI chr 3:30,606,356...30,694,142
Ensembl chr 3:30,606,601...30,694,142
JBrowse link
G TNFRSF1A TNF receptor superfamily member 1A IAGP ORPHA:32960 HPO NCBI chr12:6,328,771...6,342,076
Ensembl chr12:6,328,757...6,342,114
JBrowse link
G TNFSF11 TNF superfamily member 11 IAGP ORPHA:667 HPO NCBI chr13:42,562,736...42,608,013
Ensembl chr13:42,562,736...42,608,013
JBrowse link
G TNXB tenascin XB IAGP OMIM:606408 ORPHA:230839 HPO NCBI chr 6:32,041,153...32,109,338
Ensembl chr 6:32,041,153...32,115,334
JBrowse link
G UNC13D unc-13 homolog D IAGP ORPHA:540 HPO NCBI chr17:75,827,225...75,844,404
Ensembl chr17:75,827,225...75,844,552
JBrowse link
G USP8 ubiquitin specific peptidase 8 IAGP OMIM:219090 ORPHA:96253 HPO NCBI chr15:50,424,405...50,514,421
Ensembl chr15:50,424,380...50,514,421
JBrowse link
G VWF von Willebrand factor IAGP OMIM:193400 OMIM:277480 OMIM:613554
DNA:deletion:cds:
HPO
RGD
PMID:8839848 RGD:11079202 NCBI chr12:5,948,877...6,124,670
Ensembl chr12:5,948,877...6,124,770
JBrowse link
G WAS WASP actin nucleation promoting factor IAGP OMIM:313900 ORPHA:906 HPO NCBI chr  X:48,676,636...48,691,427
Ensembl chr  X:48,676,596...48,691,427
JBrowse link
G WIPF1 WAS/WASL interacting protein family member 1 IAGP ORPHA:906 HPO NCBI chr 2:174,559,574...174,682,913
Ensembl chr 2:174,559,572...174,682,916
JBrowse link
G ZBTB16 zinc finger and BTB domain containing 16 IAGP ORPHA:520 HPO NCBI chr11:114,059,711...114,256,770
Ensembl chr11:114,059,041...114,256,765
JBrowse link
G ZNF469 zinc finger protein 469 IAGP ORPHA:90354 HPO NCBI chr16:88,100,931...88,440,753
Ensembl chr16:88,382,959...88,440,757
JBrowse link
Ecchymosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AIP aryl hydrocarbon receptor interacting protein IAGP OMIM:219090 HPO NCBI chr11:67,483,026...67,491,103
Ensembl chr11:67,468,174...67,491,154
JBrowse link
G BCOR BCL6 corepressor IAGP ORPHA:520 HPO NCBI chr  X:40,051,246...40,177,329
Ensembl chr  X:40,049,815...40,177,329
JBrowse link
G CALR calreticulin IAGP ORPHA:824 HPO NCBI chr19:12,938,609...12,944,489
Ensembl chr19:12,938,578...12,944,489
JBrowse link
G CD109 CD109 molecule IAGP ORPHA:853 HPO NCBI chr 6:73,679,192...73,828,313
Ensembl chr 6:73,695,785...73,828,316
JBrowse link
G CDH23 cadherin related 23 IAGP ORPHA:96253 HPO NCBI chr10:71,396,920...71,815,947
Ensembl chr10:71,396,920...71,815,947
JBrowse link
G CHST14 carbohydrate sulfotransferase 14 IAGP OMIM:601776 HPO NCBI chr15:40,470,984...40,473,158
Ensembl chr15:40,470,984...40,473,158
JBrowse link
G COL1A1 collagen type I alpha 1 chain IAGP ORPHA:287 HPO NCBI chr17:50,184,101...50,201,631
Ensembl chr17:50,184,101...50,201,632
JBrowse link
G COL3A1 collagen type III alpha 1 chain IAGP OMIM:130050 HPO NCBI chr 2:188,974,373...189,012,746
Ensembl chr 2:188,974,373...189,012,746
JBrowse link
G COL5A1 collagen type V alpha 1 chain IAGP ORPHA:287 HPO NCBI chr 9:134,641,803...134,844,843
Ensembl chr 9:134,641,803...134,844,843
JBrowse link
G COL5A2 collagen type V alpha 2 chain IAGP ORPHA:287 HPO NCBI chr 2:189,031,898...189,441,111
Ensembl chr 2:189,031,898...189,225,312
JBrowse link
G F13A1 coagulation factor XIII A chain IAGP OMIM:613225 ORPHA:331 HPO NCBI chr 6:6,144,084...6,320,662
Ensembl chr 6:6,144,084...6,321,013
JBrowse link
G F13B coagulation factor XIII B chain IAGP OMIM:613235 ORPHA:331 HPO NCBI chr 1:197,038,741...197,067,260
Ensembl chr 1:197,038,741...197,067,260
JBrowse link
G F2 coagulation factor II, thrombin IAGP OMIM:613679 HPO NCBI chr11:46,719,213...46,739,506
Ensembl chr11:46,719,196...46,739,506
JBrowse link
G FIP1L1 factor interacting with PAPOLA and CPSF1 IAGP ORPHA:520 HPO NCBI chr 4:53,377,641...53,460,862
Ensembl chr 4:53,377,641...53,460,862
JBrowse link
G GBA glucosylceramidase beta IAGP ORPHA:2072 HPO NCBI chr 1:155,234,452...155,244,627
Ensembl chr 1:155,234,452...155,244,699
JBrowse link
G GFI1B growth factor independent 1B transcriptional repressor IAGP OMIM:187900 HPO NCBI chr 9:132,945,531...132,993,434
Ensembl chr 9:132,944,000...132,991,687
JBrowse link
G GGCX gamma-glutamyl carboxylase IAGP OMIM:277450 HPO NCBI chr 2:85,544,720...85,561,493
Ensembl chr 2:85,544,720...85,561,532
JBrowse link
G GIMAP5 GTPase, IMAP family member 5 IAGP OMIM:619463 HPO NCBI chr 7:150,737,418...150,743,646
Ensembl chr 7:150,722,253...150,750,033
JBrowse link
G GP1BA glycoprotein Ib platelet subunit alpha IAGP OMIM:153670 ORPHA:853 HPO NCBI chr17:4,932,277...4,935,023
Ensembl chr17:4,932,277...4,935,023
JBrowse link
G GP1BB glycoprotein Ib platelet subunit beta IAGP ORPHA:853 HPO NCBI chr22:19,723,539...19,724,771
Ensembl chr22:19,723,539...19,724,771
JBrowse link
G GP6 glycoprotein VI platelet IAGP OMIM:614201 HPO NCBI chr19:55,013,705...55,038,264
Ensembl chr19:55,013,705...55,038,264
JBrowse link
G HPS1 HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 IAGP OMIM:203300 HPO NCBI chr10:98,413,948...98,446,935
Ensembl chr10:98,416,198...98,446,935
JBrowse link
G HPS6 HPS6 biogenesis of lysosomal organelles complex 2 subunit 3 IAGP OMIM:614075 HPO NCBI chr10:102,065,349...102,068,036
Ensembl chr10:102,065,349...102,068,036
JBrowse link
G IFNG interferon gamma IAGP ORPHA:88 HPO NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740
JBrowse link
G IRF2BP2 interferon regulatory factor 2 binding protein 2 IAGP ORPHA:520 HPO NCBI chr 1:234,604,269...234,610,178
Ensembl chr 1:234,604,269...234,610,178
JBrowse link
G ITGA2 integrin subunit alpha 2 IAGP ORPHA:853 HPO NCBI chr 5:52,989,352...53,094,779
Ensembl chr 5:52,989,340...53,094,779
JBrowse link
G ITGA2B integrin subunit alpha 2b IAGP ORPHA:849 ORPHA:853 HPO NCBI chr17:44,372,181...44,389,649
Ensembl chr17:44,372,180...44,389,649
JBrowse link
G ITGB3 integrin subunit beta 3 IAGP ORPHA:849 ORPHA:853 HPO NCBI chr17:47,253,827...47,313,743
Ensembl chr17:47,253,827...47,313,743
JBrowse link
G JAK2 Janus kinase 2 IAGP ORPHA:824 HPO NCBI chr 9:4,984,390...5,129,948
Ensembl chr 9:4,984,390...5,129,948
JBrowse link
G MPL MPL proto-oncogene, thrombopoietin receptor IAGP ORPHA:824 HPO NCBI chr 1:43,337,818...43,354,466
Ensembl chr 1:43,337,818...43,354,466
JBrowse link
G NABP1 nucleic acid binding protein 1 IAGP ORPHA:520 HPO NCBI chr 2:191,678,136...191,686,943
Ensembl chr 2:191,678,068...191,741,097
JBrowse link
G NPM1 nucleophosmin 1 IAGP ORPHA:520 HPO NCBI chr 5:171,387,116...171,410,900
Ensembl chr 5:171,387,116...171,411,810
JBrowse link
G NUMA1 nuclear mitotic apparatus protein 1 IAGP ORPHA:520 HPO NCBI chr11:72,002,864...72,080,542
Ensembl chr11:72,002,864...72,080,693
JBrowse link
G P2RY12 purinergic receptor P2Y12 IAGP OMIM:609821 HPO NCBI chr 3:151,336,843...151,384,753
Ensembl chr 3:151,336,843...151,384,753
JBrowse link
G PML PML nuclear body scaffold IAGP ORPHA:520 HPO NCBI chr15:73,994,716...74,047,827
Ensembl chr15:73,994,673...74,047,827
JBrowse link
G PRF1 perforin 1 IAGP ORPHA:88 HPO NCBI chr10:70,597,348...70,602,741
Ensembl chr10:70,597,348...70,602,759
JBrowse link
G PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha IAGP ORPHA:520 HPO NCBI chr17:68,413,623...68,551,316
Ensembl chr17:68,511,780...68,551,319
JBrowse link
G RARA retinoic acid receptor alpha IAGP ORPHA:520 HPO NCBI chr17:40,309,180...40,357,643
Ensembl chr17:40,309,180...40,357,643
JBrowse link
G SBDS SBDS ribosome maturation factor IAGP ORPHA:88 HPO NCBI chr 7:66,987,680...66,995,586
Ensembl chr 7:66,987,680...66,995,586
JBrowse link
G STAT3 signal transducer and activator of transcription 3 IAGP ORPHA:520 HPO NCBI chr17:42,313,324...42,388,442
Ensembl chr17:42,313,324...42,388,540
JBrowse link
G STAT5B signal transducer and activator of transcription 5B IAGP ORPHA:520 HPO NCBI chr17:42,199,177...42,288,370
Ensembl chr17:42,199,177...42,276,707
JBrowse link
G STX11 syntaxin 11 IAGP ORPHA:540 HPO NCBI chr 6:144,139,963...144,191,939
Ensembl chr 6:144,150,517...144,191,939
JBrowse link
G STXBP2 syntaxin binding protein 2 IAGP ORPHA:540 HPO NCBI chr19:7,637,110...7,647,873
Ensembl chr19:7,636,881...7,647,873
JBrowse link
G TBL1XR1 TBL1X/Y related 1 IAGP ORPHA:520 HPO NCBI chr 3:177,019,344...177,201,800
Ensembl chr 3:177,019,340...177,228,000
JBrowse link
G TBXA2R thromboxane A2 receptor IAGP OMIM:614009 HPO NCBI chr19:3,594,507...3,606,875
Ensembl chr19:3,594,507...3,606,875
JBrowse link
G TERC telomerase RNA component IAGP ORPHA:88 HPO NCBI chr 3:169,764,610...169,765,060
Ensembl chr 3:169,764,610...169,765,047
Ensembl chr 3:169,764,610...169,765,047
JBrowse link
G TERT telomerase reverse transcriptase IAGP ORPHA:88 HPO NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068
JBrowse link
G TET2 tet methylcytosine dioxygenase 2 IAGP ORPHA:824 HPO NCBI chr 4:105,145,875...105,279,803
Ensembl chr 4:105,145,875...105,279,816
JBrowse link
G UNC13D unc-13 homolog D IAGP ORPHA:540 HPO NCBI chr17:75,827,225...75,844,404
Ensembl chr17:75,827,225...75,844,552
JBrowse link
G USP8 ubiquitin specific peptidase 8 IAGP ORPHA:96253 HPO NCBI chr15:50,424,405...50,514,421
Ensembl chr15:50,424,380...50,514,421
JBrowse link
G ZBTB16 zinc finger and BTB domain containing 16 IAGP ORPHA:520 HPO NCBI chr11:114,059,711...114,256,770
Ensembl chr11:114,059,041...114,256,765
JBrowse link
Petechiae term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APOE apolipoprotein E IAGP ORPHA:158029 HPO NCBI chr19:44,905,796...44,909,393
Ensembl chr19:44,905,791...44,909,393
JBrowse link
G BCOR BCL6 corepressor IAGP ORPHA:520 HPO NCBI chr  X:40,051,246...40,177,329
Ensembl chr  X:40,049,815...40,177,329
JBrowse link
G CALR calreticulin IAGP ORPHA:824 HPO NCBI chr19:12,938,609...12,944,489
Ensembl chr19:12,938,578...12,944,489
JBrowse link
G CASP10 caspase 10 IAGP OMIM:603909 HPO NCBI chr 2:201,183,141...201,229,406
Ensembl chr 2:201,182,872...201,229,428
JBrowse link
G CD109 CD109 molecule IAGP ORPHA:853 HPO NCBI chr 6:73,679,192...73,828,313
Ensembl chr 6:73,695,785...73,828,316
JBrowse link
G CLCN7 chloride voltage-gated channel 7 IAGP OMIM:611490 HPO NCBI chr16:1,444,935...1,475,028
Ensembl chr16:1,444,934...1,475,084
JBrowse link
G ETHE1 ETHE1 persulfide dioxygenase IAGP OMIM:602473 ORPHA:51188 HPO NCBI chr19:43,506,719...43,527,201
Ensembl chr19:43,506,719...43,527,230
JBrowse link
G ETV6 ETS variant transcription factor 6 IAGP OMIM:616216 HPO NCBI chr12:11,649,674...11,895,377
Ensembl chr12:11,649,674...11,895,377
JBrowse link
G FCGR2C Fc gamma receptor IIc (gene/pseudogene) IAGP ORPHA:3002 HPO NCBI chr 1:161,581,339...161,601,220
Ensembl chr 1:161,581,339...161,605,662
JBrowse link
G FERMT3 FERM domain containing kindlin 3 IAGP OMIM:612840 HPO NCBI chr11:64,205,920...64,223,891
Ensembl chr11:64,206,678...64,223,891
JBrowse link
G FIP1L1 factor interacting with PAPOLA and CPSF1 IAGP ORPHA:520 HPO NCBI chr 4:53,377,641...53,460,862
Ensembl chr 4:53,377,641...53,460,862
JBrowse link
G FYB1 FYN binding protein 1 IAGP OMIM:273900 HPO NCBI chr 5:39,105,252...39,274,528
Ensembl chr 5:39,105,252...39,274,528
JBrowse link
G GATA1 GATA binding protein 1 IAGP OMIM:300367 OMIM:314050 HPO NCBI chr  X:48,786,590...48,794,311
Ensembl chr  X:48,786,540...48,794,311
JBrowse link
G GBA glucosylceramidase beta IAGP OMIM:608013 HPO NCBI chr 1:155,234,452...155,244,627
Ensembl chr 1:155,234,452...155,244,699
JBrowse link
G GFI1B growth factor independent 1B transcriptional repressor IAGP OMIM:187900 HPO NCBI chr 9:132,945,531...132,993,434
Ensembl chr 9:132,944,000...132,991,687
JBrowse link
G GIMAP5 GTPase, IMAP family member 5 IAGP OMIM:619463 HPO NCBI chr 7:150,737,418...150,743,646
Ensembl chr 7:150,722,253...150,750,033
JBrowse link
G GNA14 G protein subunit alpha 14 IAGP ORPHA:1063 HPO NCBI chr 9:77,423,079...77,648,322
Ensembl chr 9:77,423,079...77,648,322
JBrowse link
G GP1BA glycoprotein Ib platelet subunit alpha IAGP OMIM:153670 ORPHA:274 ORPHA:853 HPO NCBI chr17:4,932,277...4,935,023
Ensembl chr17:4,932,277...4,935,023
JBrowse link
G GP1BB glycoprotein Ib platelet subunit beta IAGP ORPHA:274 ORPHA:853 HPO NCBI chr22:19,723,539...19,724,771
Ensembl chr22:19,723,539...19,724,771
JBrowse link
G GP9 glycoprotein IX platelet IAGP ORPHA:274 HPO NCBI chr 3:129,054,845...129,062,406
Ensembl chr 3:129,060,779...129,062,406
JBrowse link
G HOXA11 homeobox A11 IAGP OMIM:605432 HPO NCBI chr 7:27,181,157...27,185,232
Ensembl chr 7:27,181,157...27,185,232
JBrowse link
G IRF2BP2 interferon regulatory factor 2 binding protein 2 IAGP ORPHA:520 HPO NCBI chr 1:234,604,269...234,610,178
Ensembl chr 1:234,604,269...234,610,178
JBrowse link
G ITGA2 integrin subunit alpha 2 IAGP ORPHA:853 HPO NCBI chr 5:52,989,352...53,094,779
Ensembl chr 5:52,989,340...53,094,779
JBrowse link
G ITGA2B integrin subunit alpha 2b IAGP OMIM:187800 ORPHA:853 HPO NCBI chr17:44,372,181...44,389,649
Ensembl chr17:44,372,180...44,389,649
JBrowse link
G ITGB3 integrin subunit beta 3 IAGP ORPHA:853 HPO NCBI chr17:47,253,827...47,313,743
Ensembl chr17:47,253,827...47,313,743
JBrowse link
G JAK2 Janus kinase 2 IAGP ORPHA:824 HPO NCBI chr 9:4,984,390...5,129,948
Ensembl chr 9:4,984,390...5,129,948
JBrowse link
G LCP2 lymphocyte cytosolic protein 2 IAGP OMIM:619374 HPO NCBI chr 5:170,246,233...170,297,777
Ensembl chr 5:170,246,233...170,297,815
JBrowse link
G MPL MPL proto-oncogene, thrombopoietin receptor IAGP ORPHA:824 HPO NCBI chr 1:43,337,818...43,354,466
Ensembl chr 1:43,337,818...43,354,466
JBrowse link
G NABP1 nucleic acid binding protein 1 IAGP ORPHA:520 HPO NCBI chr 2:191,678,136...191,686,943
Ensembl chr 2:191,678,068...191,741,097
JBrowse link
G NEU1 neuraminidase 1 IAGP ORPHA:93400 HPO NCBI chr 6:31,857,659...31,862,821
Ensembl chr 6:31,857,659...31,862,905
JBrowse link
G NPM1 nucleophosmin 1 IAGP ORPHA:520 HPO NCBI chr 5:171,387,116...171,410,900
Ensembl chr 5:171,387,116...171,411,810
JBrowse link
G NUMA1 nuclear mitotic apparatus protein 1 IAGP ORPHA:520 HPO NCBI chr11:72,002,864...72,080,542
Ensembl chr11:72,002,864...72,080,693
JBrowse link
G OCLN occludin IAGP OMIM:251290 HPO NCBI chr 5:69,492,547...69,558,104
Ensembl chr 5:69,492,292...69,558,104
JBrowse link
G PEPD peptidase D IAGP OMIM:170100 HPO NCBI chr19:33,386,950...33,521,791
Ensembl chr19:33,386,950...33,521,791
JBrowse link
G PML PML nuclear body scaffold IAGP ORPHA:520 HPO NCBI chr15:73,994,716...74,047,827
Ensembl chr15:73,994,673...74,047,827
JBrowse link
G PRF1 perforin 1 IAGP ORPHA:540 HPO NCBI chr10:70,597,348...70,602,741
Ensembl chr10:70,597,348...70,602,759
JBrowse link
G PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha IAGP ORPHA:520 HPO NCBI chr17:68,413,623...68,551,316
Ensembl chr17:68,511,780...68,551,319
JBrowse link
G RAB27A RAB27A, member RAS oncogene family IAGP ORPHA:79477 HPO NCBI chr15:55,202,966...55,289,813
Ensembl chr15:55,202,966...55,319,113
JBrowse link
G RARA retinoic acid receptor alpha IAGP ORPHA:520 HPO NCBI chr17:40,309,180...40,357,643
Ensembl chr17:40,309,180...40,357,643
JBrowse link
G SAMD9 sterile alpha motif domain containing 9 IAGP OMIM:617053 HPO NCBI chr 7:93,099,518...93,117,979
Ensembl chr 7:93,099,513...93,118,023
JBrowse link
G STAT3 signal transducer and activator of transcription 3 IAGP ORPHA:520 HPO NCBI chr17:42,313,324...42,388,442
Ensembl chr17:42,313,324...42,388,540
JBrowse link
G STAT5B signal transducer and activator of transcription 5B IAGP ORPHA:520 HPO NCBI chr17:42,199,177...42,288,370
Ensembl chr17:42,199,177...42,276,707
JBrowse link
G STX11 syntaxin 11 IAGP ORPHA:540 HPO NCBI chr 6:144,139,963...144,191,939
Ensembl chr 6:144,150,517...144,191,939
JBrowse link
G STXBP2 syntaxin binding protein 2 IAGP ORPHA:540 HPO NCBI chr19:7,637,110...7,647,873
Ensembl chr19:7,636,881...7,647,873
JBrowse link
G TBL1XR1 TBL1X/Y related 1 IAGP ORPHA:520 HPO NCBI chr 3:177,019,344...177,201,800
Ensembl chr 3:177,019,340...177,228,000
JBrowse link
G TET2 tet methylcytosine dioxygenase 2 IAGP ORPHA:824 HPO NCBI chr 4:105,145,875...105,279,803
Ensembl chr 4:105,145,875...105,279,816
JBrowse link
G TREX1 three prime repair exonuclease 1 IAGP OMIM:225750 HPO NCBI chr 3:48,465,830...48,467,645
Ensembl chr 3:48,465,811...48,467,645
JBrowse link
G UNC13D unc-13 homolog D IAGP ORPHA:540 HPO NCBI chr17:75,827,225...75,844,404
Ensembl chr17:75,827,225...75,844,552
JBrowse link
G USP18 ubiquitin specific peptidase 18 IAGP OMIM:617397 HPO NCBI chr22:18,150,170...18,177,397
Ensembl chr22:18,150,170...18,177,397
JBrowse link
G WAS WASP actin nucleation promoting factor IAGP OMIM:301000 OMIM:313900 ORPHA:906 HPO NCBI chr  X:48,676,636...48,691,427
Ensembl chr  X:48,676,596...48,691,427
JBrowse link
G WIPF1 WAS/WASL interacting protein family member 1 IAGP ORPHA:906 HPO NCBI chr 2:174,559,574...174,682,913
Ensembl chr 2:174,559,572...174,682,916
JBrowse link
G ZBTB16 zinc finger and BTB domain containing 16 IAGP ORPHA:520 HPO NCBI chr11:114,059,711...114,256,770
Ensembl chr11:114,059,041...114,256,765
JBrowse link
Purpura term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACP5 acid phosphatase 5, tartrate resistant IAGP OMIM:607944 HPO NCBI chr19:11,574,660...11,578,975
Ensembl chr19:11,574,653...11,579,993
JBrowse link
G ADA2 adenosine deaminase 2 IAGP OMIM:615688 HPO NCBI chr22:17,178,790...17,221,848
Ensembl chr22:17,178,790...17,258,235
JBrowse link
G AGT angiotensinogen IAGP DNA:missense mutation:cds:p.M235T RGD PMID:16521052 RGD:11039045 NCBI chr 1:230,702,523...230,745,583
Ensembl chr 1:230,690,776...230,745,576
JBrowse link
G ARL6IP6 ADP ribosylation factor like GTPase 6 interacting protein 6 IAGP ORPHA:1556 HPO NCBI chr 2:152,717,648...152,762,396
Ensembl chr 2:152,717,647...152,762,396
JBrowse link
G ARVCF ARVCF delta catenin family member IAGP ORPHA:567 HPO NCBI chr22:19,965,134...20,016,823
Ensembl chr22:19,969,896...20,016,823
JBrowse link
G C2 complement C2 IAGP OMIM:217000 HPO NCBI chr 6:31,897,783...31,945,672
Ensembl chr 6:31,897,785...31,945,673
JBrowse link
G C4A complement C4A (Rodgers blood group) IAGP OMIM:614380 HPO NCBI chr 6:31,982,057...32,002,681
Ensembl chr 6:31,982,052...32,002,681
JBrowse link
G CALR calreticulin IAGP OMIM:254450 HPO NCBI chr19:12,938,609...12,944,489
Ensembl chr19:12,938,578...12,944,489
JBrowse link
G CD19 CD19 molecule IAGP ORPHA:1572 HPO NCBI chr16:28,931,971...28,939,342
Ensembl chr16:28,931,965...28,939,342
JBrowse link
G CD81 CD81 molecule IAGP OMIM:613496 ORPHA:1572 HPO NCBI chr11:2,376,180...2,397,397
Ensembl chr11:2,376,177...2,397,397
JBrowse link
G CFH complement factor H IAGP OMIM:235400 HPO NCBI chr 1:196,652,043...196,747,504
Ensembl chr 1:196,651,754...196,752,476
JBrowse link
G CFHR1 complement factor H related 1 IAGP OMIM:235400 HPO NCBI chr 1:196,819,731...196,832,189
Ensembl chr 1:196,819,731...196,832,189
JBrowse link
G CFHR3 complement factor H related 3 IAGP OMIM:235400 HPO NCBI chr 1:196,774,840...196,795,407
Ensembl chr 1:196,774,813...196,795,407
JBrowse link
G COMT catechol-O-methyltransferase IAGP ORPHA:567 HPO NCBI chr22:19,941,772...19,969,975
Ensembl chr22:19,941,371...19,969,975
JBrowse link
G CR2 complement C3d receptor 2 IAGP ORPHA:1572 HPO NCBI chr 1:207,454,328...207,489,892
Ensembl chr 1:207,454,230...207,489,895
JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 IAGP ORPHA:900 HPO NCBI chr 2:203,867,771...203,873,965
Ensembl chr 2:203,853,888...203,873,965
JBrowse link
G GP1BA glycoprotein Ib platelet subunit alpha IAGP OMIM:231200 HPO NCBI chr17:4,932,277...4,935,023
Ensembl chr17:4,932,277...4,935,023
JBrowse link
G GP1BB glycoprotein Ib platelet subunit beta IAGP OMIM:231200 ORPHA:567 HPO NCBI chr22:19,723,539...19,724,771
Ensembl chr22:19,723,539...19,724,771
JBrowse link
G GP9 glycoprotein IX platelet IAGP OMIM:231200 HPO NCBI chr 3:129,054,845...129,062,406
Ensembl chr 3:129,060,779...129,062,406
JBrowse link
G HIRA histone cell cycle regulator IAGP ORPHA:567 HPO NCBI chr22:19,330,698...19,431,733
Ensembl chr22:19,330,698...19,447,450
JBrowse link
G HLA-DPA1 major histocompatibility complex, class II, DP alpha 1 IAGP ORPHA:900 HPO NCBI chr 6:33,064,569...33,080,748
Ensembl chr 6:33,064,569...33,080,775
JBrowse link
G HLA-DPB1 major histocompatibility complex, class II, DP beta 1 IAGP ORPHA:900 HPO NCBI chr 6:33,075,990...33,089,696
Ensembl chr 6:33,075,990...33,089,696
JBrowse link
G HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1 susceptibility IAGP DNA:polymorphisms:cds:HLA-DQA1*0301, HLA-DQA1*0302 RGD PMID:11836690 RGD:5147830 NCBI chr 6:32,637,406...32,655,272
Ensembl chr 6:32,628,179...32,647,062
JBrowse link
G ICOS inducible T cell costimulator IAGP ORPHA:1572 HPO NCBI chr 2:203,936,763...203,961,577
Ensembl chr 2:203,936,763...203,961,577
JBrowse link
G IL10 interleukin 10 disease_progression IAGP DNA:SNPs, haplotypes:promoter:-1082A>G, -819C>T, -592C>A RGD PMID:22677268 RGD:11046267 NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541
JBrowse link
G IRF2BP2 interferon regulatory factor 2 binding protein 2 IAGP ORPHA:1572 HPO NCBI chr 1:234,604,269...234,610,178
Ensembl chr 1:234,604,269...234,610,178
JBrowse link
G ITGA2B integrin subunit alpha 2b IAGP OMIM:273800 HPO NCBI chr17:44,372,181...44,389,649
Ensembl chr17:44,372,180...44,389,649
JBrowse link
G JAK2 Janus kinase 2 IAGP OMIM:254450 HPO NCBI chr 9:4,984,390...5,129,948
Ensembl chr 9:4,984,390...5,129,948
JBrowse link
G JMJD1C jumonji domain containing 1C IAGP ORPHA:567 HPO NCBI chr10:63,167,225...63,521,890
Ensembl chr10:63,167,221...63,521,850
JBrowse link
G MPL MPL proto-oncogene, thrombopoietin receptor IAGP OMIM:254450 HPO NCBI chr 1:43,337,818...43,354,466
Ensembl chr 1:43,337,818...43,354,466
JBrowse link
G MS4A1 membrane spanning 4-domains A1 IAGP ORPHA:1572 HPO NCBI chr11:60,455,847...60,470,752
Ensembl chr11:60,455,846...60,470,752
JBrowse link
G MVK mevalonate kinase IAGP ORPHA:343 HPO NCBI chr12:109,573,272...109,598,125
Ensembl chr12:109,573,255...109,598,125
JBrowse link
G MYD88 MYD88 innate immune signal transduction adaptor IAGP ORPHA:33226 HPO NCBI chr 3:38,138,661...38,143,022
Ensembl chr 3:38,138,478...38,143,022
JBrowse link
G NFKB1 nuclear factor kappa B subunit 1 IAGP ORPHA:1572 HPO NCBI chr 4:102,501,359...102,617,302
Ensembl chr 4:102,501,331...102,617,302
JBrowse link
G NFKB2 nuclear factor kappa B subunit 2 IAGP ORPHA:1572 HPO NCBI chr10:102,394,110...102,402,529
Ensembl chr10:102,394,110...102,402,524
JBrowse link
G NLRP3 NLR family pyrin domain containing 3 IAGP ORPHA:1451 HPO NCBI chr 1:247,416,077...247,448,817
Ensembl chr 1:247,416,156...247,449,108
JBrowse link
G ORAI1 ORAI calcium release-activated calcium modulator 1 IAGP ORPHA:3204 HPO NCBI chr12:121,626,550...121,642,040
Ensembl chr12:121,626,550...121,642,677
JBrowse link
G PRKCD protein kinase C delta IAGP ORPHA:1572 HPO NCBI chr 3:53,161,209...53,192,717
Ensembl chr 3:53,156,009...53,192,717
JBrowse link
G PROC protein C, inactivator of coagulation factors Va and VIIIa IAGP OMIM:612304 ORPHA:745 HPO NCBI chr 2:127,418,427...127,429,242
Ensembl chr 2:127,418,427...127,429,242
JBrowse link
G PROS1 protein S IAGP OMIM:612336 OMIM:614514 ORPHA:743 HPO NCBI chr 3:93,873,051...93,973,896
Ensembl chr 3:93,873,051...93,980,003
JBrowse link
G PRTN3 proteinase 3 IAGP ORPHA:900 HPO NCBI chr19:840,999...848,175
Ensembl chr19:840,999...848,175
JBrowse link
G PTPN22 protein tyrosine phosphatase non-receptor type 22 IAGP ORPHA:900 HPO NCBI chr 1:113,813,811...113,871,759
Ensembl chr 1:113,813,811...113,871,753
JBrowse link
G RREB1 ras responsive element binding protein 1 IAGP ORPHA:567 HPO NCBI chr 6:7,107,743...7,251,980
Ensembl chr 6:7,107,597...7,251,980
JBrowse link
G SEC24C SEC24 homolog C, COPII coat complex component IAGP ORPHA:567 HPO NCBI chr10:73,744,372...73,772,161
Ensembl chr10:73,744,372...73,772,161
JBrowse link
G SH2B3 SH2B adaptor protein 3 IAGP OMIM:254450 HPO NCBI chr12:111,404,730...111,451,623
Ensembl chr12:111,405,923...111,451,623
JBrowse link
G STIM1 stromal interaction molecule 1 IAGP ORPHA:3204 HPO NCBI chr11:3,854,604...4,093,210
Ensembl chr11:3,854,527...4,093,210
JBrowse link
G TBX1 T-box transcription factor 1 IAGP ORPHA:567 HPO NCBI chr22:19,756,703...19,783,593
Ensembl chr22:19,756,703...19,783,593
JBrowse link
G TFR2 transferrin receptor 2 IAGP OMIM:604250 HPO NCBI chr 7:100,620,420...100,641,552
Ensembl chr 7:100,620,416...100,642,779
JBrowse link
G TNFRSF13B TNF receptor superfamily member 13B IAGP ORPHA:1572 HPO NCBI chr17:16,939,081...16,972,118
Ensembl chr17:16,929,816...16,972,118
JBrowse link
G TNFRSF13C TNF receptor superfamily member 13C IAGP ORPHA:1572 HPO NCBI chr22:41,922,032...41,926,806
Ensembl chr22:41,922,032...41,926,806
JBrowse link
G TNFSF12 TNF superfamily member 12 IAGP ORPHA:1572 HPO NCBI chr17:7,549,058...7,557,881
Ensembl chr17:7,549,058...7,557,890
JBrowse link
G TREX1 three prime repair exonuclease 1 IAGP OMIM:225750 HPO NCBI chr 3:48,465,830...48,467,645
Ensembl chr 3:48,465,811...48,467,645
JBrowse link
G UFD1 ubiquitin recognition factor in ER associated degradation 1 IAGP ORPHA:567 HPO NCBI chr22:19,449,911...19,479,193
Ensembl chr22:19,449,911...19,479,202
JBrowse link
Spontaneous hematomas term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACVRL1 activin A receptor like type 1 IAGP ORPHA:774 HPO NCBI chr12:51,906,944...51,923,361
Ensembl chr12:51,906,908...51,923,361
JBrowse link
G ATP7A ATPase copper transporting alpha IAGP ORPHA:565 HPO NCBI chr  X:77,910,693...78,050,395
Ensembl chr  X:77,910,690...78,050,395
JBrowse link
G CD109 CD109 molecule IAGP ORPHA:853 HPO NCBI chr 6:73,679,192...73,828,313
Ensembl chr 6:73,695,785...73,828,316
JBrowse link
G COG8 component of oligomeric golgi complex 8 IAGP ORPHA:95428 HPO NCBI chr16:69,326,428...69,339,564
Ensembl chr16:69,320,140...69,339,583
JBrowse link
G ENG endoglin IAGP ORPHA:774 HPO NCBI chr 9:127,815,012...127,854,773
Ensembl chr 9:127,815,013...127,854,658
JBrowse link
G F10 coagulation factor X IAGP ORPHA:328 HPO NCBI chr13:113,122,799...113,149,529
Ensembl chr13:113,122,799...113,149,529
JBrowse link
G F13A1 coagulation factor XIII A chain IAGP OMIM:613225 ORPHA:331 HPO NCBI chr 6:6,144,084...6,320,662
Ensembl chr 6:6,144,084...6,321,013
JBrowse link
G F13B coagulation factor XIII B chain IAGP ORPHA:331 HPO NCBI chr 1:197,038,741...197,067,260
Ensembl chr 1:197,038,741...197,067,260
JBrowse link
G F5 coagulation factor V IAGP ORPHA:326 HPO NCBI chr 1:169,511,951...169,586,481
Ensembl chr 1:169,511,951...169,586,588
JBrowse link
G F8 coagulation factor VIII IAGP ORPHA:169805 HPO NCBI chr  X:154,835,792...155,022,723
Ensembl chr  X:154,835,788...155,026,940
JBrowse link
G GDF2 growth differentiation factor 2 IAGP ORPHA:774 HPO NCBI chr10:47,322,454...47,327,588
Ensembl chr10:47,322,454...47,327,588
JBrowse link
G GP1BA glycoprotein Ib platelet subunit alpha IAGP ORPHA:274 ORPHA:853 HPO NCBI chr17:4,932,277...4,935,023
Ensembl chr17:4,932,277...4,935,023
JBrowse link
G GP1BB glycoprotein Ib platelet subunit beta IAGP DNA:missense mutation:exon:c.281A>G(p.D94G)(human)
ORPHA:274 ORPHA:853
HPO
RGD
PMID:28131619 RGD:13464128 NCBI chr22:19,723,539...19,724,771
Ensembl chr22:19,723,539...19,724,771
JBrowse link
G GP9 glycoprotein IX platelet IAGP ORPHA:274 HPO NCBI chr 3:129,054,845...129,062,406
Ensembl chr 3:129,060,779...129,062,406
JBrowse link
G ITGA2 integrin subunit alpha 2 IAGP ORPHA:853 HPO NCBI chr 5:52,989,352...53,094,779
Ensembl chr 5:52,989,340...53,094,779
JBrowse link
G ITGA2B integrin subunit alpha 2b IAGP ORPHA:849 ORPHA:853 HPO NCBI chr17:44,372,181...44,389,649
Ensembl chr17:44,372,180...44,389,649
JBrowse link
G ITGB3 integrin subunit beta 3 IAGP ORPHA:849 ORPHA:853 HPO NCBI chr17:47,253,827...47,313,743
Ensembl chr17:47,253,827...47,313,743
JBrowse link
G PRKACG protein kinase cAMP-activated catalytic subunit gamma IAGP OMIM:616176 HPO NCBI chr 9:69,012,504...69,014,113
Ensembl chr 9:69,012,504...69,014,113
JBrowse link
G SMAD4 SMAD family member 4 IAGP ORPHA:774 HPO NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,394...51,085,045
JBrowse link
G WAS WASP actin nucleation promoting factor IAGP ORPHA:906 HPO NCBI chr  X:48,676,636...48,691,427
Ensembl chr  X:48,676,596...48,691,427
JBrowse link
G WIPF1 WAS/WASL interacting protein family member 1 IAGP ORPHA:906 HPO NCBI chr 2:174,559,574...174,682,913
Ensembl chr 2:174,559,572...174,682,916
JBrowse link
G ZNF469 zinc finger protein 469 IAGP ClinVar Annotator: match by term: Spontaneous hematomas ClinVar PMID:25741868 PMID:28492532 NCBI chr16:88,100,931...88,440,753
Ensembl chr16:88,382,959...88,440,757
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 14725
    Phenotypic abnormality 14722
      Abnormality of blood and blood-forming tissues 1830
        Abnormal bleeding 543
          Subcutaneous hemorrhage 230
            Bruising susceptibility 149
            Purpura + 117
            Spontaneous hematomas 22
Path 2
Term Annotations click to browse term
  Human phenotype 14725
    Phenotypic abnormality 14722
      Abnormality of the integument 2571
        Abnormality of the skin 2143
          Abnormality of skin morphology 1977
            Generalized abnormality of skin 999
              Vascular skin abnormality 543
                Subcutaneous hemorrhage 230
                  Bruising susceptibility 149
                  Purpura + 117
                  Spontaneous hematomas 22
paths to the root