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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:Thromboembolism
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Accession:HP:0001907 term browser browse the term
Definition:The formation of a blood clot inside a blood vessel that subsequently travels through the blood stream from the site where it formed to another location in the body, generally leading to vascular occlusion at the distant site.
Synonyms:exact_synonym: Blood clot in blood vessel;   Thromboembolic disease;   Thromboembolic events
 related_synonym: Embolism and thrombosis
 xref: MESH:D013923;   MESH:D016769;   SNOMEDCT_US:13713005;   SNOMEDCT_US:371039008;   UMLS:C0040038;   UMLS:C0085307


show annotations for term's descendants           Sort by:
Thromboembolism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCC9 ATP binding cassette subfamily C member 9 IAGP HPO ORPHA:334 NCBI chr12:21,797,389...21,941,426
Ensembl chr12:21,797,389...21,942,543 		JBrowse link
G CBS cystathionine beta-synthase IAGP HPO OMIM:236200 NCBI chr21:43,053,191...43,076,873
Ensembl chr21:43,053,191...43,076,943 		JBrowse link
G CITED2 Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2 IAGP HPO ORPHA:99105 NCBI chr 6:139,371,807...139,374,648
Ensembl chr 6:139,371,807...139,374,648 		JBrowse link
G EPOR erythropoietin receptor IAGP HPO ORPHA:90042 NCBI chr19:11,377,207...11,384,314
Ensembl chr19:11,377,207...11,384,342 		JBrowse link
G F12 coagulation factor XII IAGP HPO ORPHA:330 NCBI chr 5:177,402,141...177,409,564
Ensembl chr 5:177,402,133...177,416,583 		JBrowse link
G F13A1 coagulation factor XIII A chain IAGP HPO OMIM:188050 NCBI chr 6:6,144,084...6,320,662
Ensembl chr 6:6,144,084...6,321,013 		JBrowse link
G F2 coagulation factor II, thrombin IAGP HPO OMIM:188050 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: Thromboembolism
ClinVar Annotator: match by term: Thromboembolic events		 ClinVar PMID:19486170 PMID:25741868 PMID:28492532 PMID:31064749 PMID:32833806 More... NCBI chr 1:169,511,951...169,586,481
Ensembl chr 1:169,511,951...169,586,588 		JBrowse link
G FGG fibrinogen gamma chain IAGP ClinVar Annotator: match by term: Thromboembolism ClinVar PMID:25741868 PMID:31064749 NCBI chr 4:154,604,136...154,612,656
Ensembl chr 4:154,604,134...154,612,967 		JBrowse link
G FLNC filamin C IAGP HPO ORPHA:75249 NCBI chr 7:128,830,406...128,859,272
Ensembl chr 7:128,830,406...128,859,274 		JBrowse link
G GATA4 GATA binding protein 4 IAGP HPO ORPHA:334 NCBI chr 8:11,676,935...11,760,002
Ensembl chr 8:11,676,959...11,760,002 		JBrowse link
G GATA5 GATA binding protein 5 IAGP HPO ORPHA:334 NCBI chr20:62,463,497...62,475,995
Ensembl chr20:62,463,497...62,475,995 		JBrowse link
G GATA6 GATA binding protein 6 IAGP HPO ORPHA:334 NCBI chr18:22,169,589...22,202,528
Ensembl chr18:22,169,589...22,202,528 		JBrowse link
G GJA5 gap junction protein alpha 5 IAGP HPO ORPHA:334 NCBI chr 1:147,756,199...147,773,351
Ensembl chr 1:147,756,199...147,773,362 		JBrowse link
G HABP2 hyaluronan binding protein 2 IAGP HPO OMIM:188050 NCBI chr10:113,550,831...113,589,602
Ensembl chr10:113,550,837...113,589,602 		JBrowse link
G JAK2 Janus kinase 2 IAGP HPO OMIM:263300 NCBI chr 9:4,984,390...5,129,948
Ensembl chr 9:4,984,390...5,129,948 		JBrowse link
G KCNA5 potassium voltage-gated channel subfamily A member 5 IAGP HPO ORPHA:334 NCBI chr12:5,043,879...5,046,788
Ensembl chr12:5,043,879...5,046,788 		JBrowse link
G KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 IAGP HPO ORPHA:334 NCBI chr21:34,446,688...34,512,210
Ensembl chr21:34,446,688...34,512,214 		JBrowse link
G KCNE2 potassium voltage-gated channel subfamily E regulatory subunit 2 IAGP HPO ORPHA:334 NCBI chr21:34,364,006...34,371,381
Ensembl chr21:34,364,006...34,371,381 		JBrowse link
G KCNJ2 potassium inwardly rectifying channel subfamily J member 2 IAGP HPO ORPHA:334 NCBI chr17:70,169,532...70,180,044
Ensembl chr17:70,168,673...70,180,044 		JBrowse link
G KCNJ3 potassium inwardly rectifying channel subfamily J member 3 IAGP HPO ORPHA:334 NCBI chr 2:154,698,695...154,858,354
Ensembl chr 2:154,697,855...154,858,354 		JBrowse link
G KCNJ5 potassium inwardly rectifying channel subfamily J member 5 IAGP HPO ORPHA:334 NCBI chr11:128,891,356...128,921,163
Ensembl chr11:128,891,356...128,921,163 		JBrowse link
G KCNK3 potassium two pore domain channel subfamily K member 3 IAGP HPO OMIM:615344 NCBI chr 2:26,692,722...26,733,420
Ensembl chr 2:26,692,722...26,733,420 		JBrowse link
G KCNN4 potassium calcium-activated channel subfamily N member 4 IAGP HPO ORPHA:3202 NCBI chr19:43,766,533...43,780,973
Ensembl chr19:43,766,533...43,780,976 		JBrowse link
G KCNQ1 potassium voltage-gated channel subfamily Q member 1 IAGP HPO ORPHA:334 NCBI chr11:2,445,008...2,849,105
Ensembl chr11:2,444,654...2,849,105 		JBrowse link
G KIF20A kinesin family member 20A IAGP HPO ORPHA:75249 NCBI chr 5:138,179,112...138,187,723
Ensembl chr 5:138,178,719...138,187,723 		JBrowse link
G MMACHC metabolism of cobalamin associated C IAGP HPO OMIM:277400 ORPHA:79282 NCBI chr 1:45,500,300...45,513,382
Ensembl chr 1:45,500,300...45,513,382 		JBrowse link
G MT-CYB mitochondrially encoded cytochrome b IAGP HPO ORPHA:137675 NCBI chr MT:14,747...15,887
Ensembl chr MT:14,747...15,887 		JBrowse link
G MTHFR methylenetetrahydrofolate reductase IAGP HPO OMIM:188050 NCBI chr 1:11,785,723...11,805,964
Ensembl chr 1:11,785,723...11,806,455 		JBrowse link
G MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase IAGP HPO ORPHA:2169 NCBI chr 5:7,850,859...7,901,113
Ensembl chr 5:7,851,186...7,906,025 		JBrowse link
G MYL4 myosin light chain 4 IAGP HPO ORPHA:334 NCBI chr17:47,189,433...47,227,650
Ensembl chr17:47,200,446...47,223,679 		JBrowse link
G MYPN myopalladin IAGP HPO ORPHA:75249 NCBI chr10:68,087,897...68,212,017
Ensembl chr10:68,087,897...68,212,017 		JBrowse link
G NKX2-5 NK2 homeobox 5 IAGP HPO ORPHA:334 NCBI chr 5:173,232,109...173,235,206
Ensembl chr 5:173,232,109...173,235,311 		JBrowse link
G NKX2-6 NK2 homeobox 6 IAGP HPO ORPHA:334 NCBI chr 8:23,701,740...23,706,756
Ensembl chr 8:23,701,740...23,706,756 		JBrowse link
G NPPA natriuretic peptide A IAGP HPO ORPHA:1344 ORPHA:334 NCBI chr 1:11,845,709...11,847,783
Ensembl chr 1:11,845,709...11,848,345 		JBrowse link
G NUP155 nucleoporin 155 IAGP HPO ORPHA:334 NCBI chr 5:37,288,137...37,371,106
Ensembl chr 5:37,288,137...37,371,106 		JBrowse link
G PDE11A phosphodiesterase 11A IAGP HPO ORPHA:1359 NCBI chr 2:177,623,244...178,108,339
Ensembl chr 2:177,623,244...178,108,339 		JBrowse link
G PIEZO1 piezo type mechanosensitive ion channel component 1 (Er blood group) IAGP HPO ORPHA:3202 NCBI chr16:88,715,338...88,785,220
Ensembl chr16:88,715,338...88,785,220 		JBrowse link
G PIGA phosphatidylinositol glycan anchor biosynthesis class A IAGP HPO ORPHA:447 NCBI chr  X:15,319,451...15,335,554
Ensembl chr  X:15,319,452...15,335,554 		JBrowse link
G PITX2 paired like homeodomain 2 IAGP HPO ORPHA:334 NCBI chr 4:110,617,423...110,642,123
Ensembl chr 4:110,617,423...110,642,123 		JBrowse link
G PRDX1 peroxiredoxin 1 IAGP HPO OMIM:277400 NCBI chr 1:45,511,051...45,522,890
Ensembl chr 1:45,510,914...45,542,732 		JBrowse link
G PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha IAGP HPO ORPHA:1359 ORPHA:615 NCBI chr17:68,413,623...68,551,316
Ensembl chr17:68,511,780...68,551,319 		JBrowse link
G PROC protein C, inactivator of coagulation factors Va and VIIIa IAGP ClinVar Annotator: match by term: Thromboembolic events
ClinVar Annotator: match by term: Thromboembolism		 ClinVar PMID:1868249 PMID:7482420 PMID:8093743 PMID:8845458 PMID:17152060 More... 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 ClinVar Annotator: match by term: Thromboembolism ClinVar PMID:25741868 PMID:28492532 PMID:31064749 NCBI chr 3:93,873,051...93,973,896
Ensembl chr 3:93,873,051...93,980,003 		JBrowse link
G SCN1B sodium voltage-gated channel beta subunit 1 IAGP HPO ORPHA:334 NCBI chr19:35,030,470...35,040,449
Ensembl chr19:35,030,470...35,040,449 		JBrowse link
G SCN2B sodium voltage-gated channel beta subunit 2 IAGP HPO ORPHA:334 NCBI chr11:118,162,806...118,176,639
Ensembl chr11:118,162,806...118,176,639 		JBrowse link
G SCN3B sodium voltage-gated channel beta subunit 3 IAGP HPO ORPHA:334 NCBI chr11:123,629,188...123,654,624
Ensembl chr11:123,629,187...123,655,244 		JBrowse link
G SCN4B sodium voltage-gated channel beta subunit 4 IAGP HPO ORPHA:334 NCBI chr11:118,133,377...118,152,823
Ensembl chr11:118,133,377...118,152,888 		JBrowse link
G SCN5A sodium voltage-gated channel alpha subunit 5 IAGP HPO ORPHA:1344 ORPHA:334 NCBI chr 3:38,548,062...38,649,687
Ensembl chr 3:38,548,057...38,649,743 		JBrowse link
G SERPINC1 serpin family C member 1 IAGP ClinVar Annotator: match by term: Thromboembolism ClinVar PMID:1483705 PMID:1977621 PMID:3472589 PMID:25741868 PMID:28492532 More... NCBI chr 1:173,903,800...173,917,327
Ensembl chr 1:173,903,800...173,917,327 		JBrowse link
G SLC4A1 solute carrier family 4 member 1 (Diego blood group) IAGP HPO ORPHA:3202 NCBI chr17:44,248,390...44,268,135
Ensembl chr17:44,248,390...44,268,141 		JBrowse link
G TLL1 tolloid like 1 IAGP HPO ORPHA:99106 NCBI chr 4:165,873,237...166,104,457
Ensembl chr 4:165,873,237...166,104,457 		JBrowse link
G TNNI3 troponin I3, cardiac type IAGP HPO ORPHA:75249 NCBI chr19:55,151,767...55,157,732
Ensembl chr19:55,151,767...55,157,773 		JBrowse link
G TNNT2 troponin T2, cardiac type IAGP HPO ORPHA:75249 NCBI chr 1:201,359,014...201,377,680
Ensembl chr 1:201,359,008...201,377,764 		JBrowse link
G TTN titin IAGP HPO ORPHA:334 NCBI chr 2:178,525,989...178,807,423
Ensembl chr 2:178,525,989...178,830,802 		JBrowse link
G TTR transthyretin IAGP HPO ORPHA:85451 NCBI chr18:31,591,877...31,598,821
Ensembl chr18:31,557,009...31,598,833 		JBrowse link
G UBA1 ubiquitin like modifier activating enzyme 1 IAGP HPO OMIM:301054 NCBI chr  X:47,190,847...47,215,128
Ensembl chr  X:47,190,861...47,215,128 		JBrowse link
Pulmonary thromboembolism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BHMT betaine--homocysteine S-methyltransferase susceptibility IAGP DNA:SNP:exon 6: p.R239Q G>A (rs3733890) (human) RGD PMID:37203835 RGD:329853743 NCBI chr 5:79,111,809...79,132,288
Ensembl chr 5:79,111,809...79,132,288 		JBrowse link
G MYH7 myosin heavy chain 7 IAGP HPO OMIM:613426 NCBI chr14:23,412,740...23,435,660
Ensembl chr14:23,412,740...23,435,660 		JBrowse link
Recurrent thromboembolism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HRG histidine rich glycoprotein IAGP HPO OMIM:613116 NCBI chr 3:186,666,014...186,678,234
Ensembl chr 3:186,660,216...186,678,234 		JBrowse link
G SERPINC1 serpin family C member 1 IAGP HPO ORPHA:82 NCBI chr 1:173,903,800...173,917,327
Ensembl chr 1:173,903,800...173,917,327 		JBrowse link
Thromboembolic stroke term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCC9 ATP binding cassette subfamily C member 9 IAGP HPO ORPHA:154 ORPHA:334 NCBI chr12:21,797,389...21,941,426
Ensembl chr12:21,797,389...21,942,543 		JBrowse link
G ACTC1 actin alpha cardiac muscle 1 IAGP HPO ORPHA:154 NCBI chr15:34,790,230...34,795,549
Ensembl chr15:34,790,107...34,795,589 		JBrowse link
G ACTN2 actinin alpha 2 IAGP HPO ORPHA:154 NCBI chr 1:236,686,499...236,764,631
Ensembl chr 1:236,664,141...236,764,631 		JBrowse link
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 ANKRD1 ankyrin repeat domain 1 IAGP HPO ORPHA:154 NCBI chr10:90,912,096...90,921,087
Ensembl chr10:90,912,096...90,921,087 		JBrowse link
G BAG3 BAG cochaperone 3 IAGP HPO ORPHA:154 NCBI chr10:119,651,380...119,677,819
Ensembl chr10:119,651,380...119,677,819 		JBrowse link
G BAG5 BAG cochaperone 5 IAGP HPO ORPHA:154 NCBI chr14:103,556,551...103,562,657
Ensembl chr14:103,556,545...103,562,657 		JBrowse link
G CAP2 cyclase associated actin cytoskeleton regulatory protein 2 IAGP HPO ORPHA:154 NCBI chr 6:17,393,595...17,557,780
Ensembl chr 6:17,393,595...17,557,780 		JBrowse link
G CRYAB crystallin alpha B IAGP HPO ORPHA:154 NCBI chr11:111,908,564...111,923,740
Ensembl chr11:111,908,564...111,923,722 		JBrowse link
G CSRP3 cysteine and glycine rich protein 3 IAGP HPO ORPHA:154 NCBI chr11:19,182,030...19,201,983
Ensembl chr11:19,182,030...19,210,571 		JBrowse link
G DES desmin IAGP HPO ORPHA:154 NCBI chr 2:219,418,377...219,426,734
Ensembl chr 2:219,418,377...219,426,735 		JBrowse link
G DMD dystrophin IAGP HPO ORPHA:154 NCBI chr  X:31,119,222...33,339,388
Ensembl chr  X:31,097,677...33,339,609 		JBrowse link
G DOLK dolichol kinase IAGP HPO ORPHA:154 NCBI chr 9:128,945,530...128,947,603
Ensembl chr 9:128,945,530...128,947,603 		JBrowse link
G DSG2 desmoglein 2 IAGP HPO ORPHA:154 NCBI chr18:31,498,177...31,549,008
Ensembl chr18:31,497,624...31,551,351 		JBrowse link
G DSP desmoplakin IAGP HPO ORPHA:154 NCBI chr 6:7,541,671...7,586,714
Ensembl chr 6:7,541,326...7,586,717 		JBrowse link
G FHL2 four and a half LIM domains 2 IAGP HPO ORPHA:154 NCBI chr 2:105,357,712...105,438,529
Ensembl chr 2:105,357,712...105,438,513 		JBrowse link
G FKTN fukutin IAGP HPO ORPHA:154 NCBI chr 9:105,558,130...105,641,118
Ensembl chr 9:105,558,122...105,653,820 		JBrowse link
G GATA4 GATA binding protein 4 IAGP HPO ORPHA:334 NCBI chr 8:11,676,935...11,760,002
Ensembl chr 8:11,676,959...11,760,002 		JBrowse link
G GATA5 GATA binding protein 5 IAGP HPO ORPHA:334 NCBI chr20:62,463,497...62,475,995
Ensembl chr20:62,463,497...62,475,995 		JBrowse link
G GATA6 GATA binding protein 6 IAGP HPO ORPHA:334 NCBI chr18:22,169,589...22,202,528
Ensembl chr18:22,169,589...22,202,528 		JBrowse link
G GATAD1 GATA zinc finger domain containing 1 IAGP HPO ORPHA:154 NCBI chr 7:92,447,482...92,495,769
Ensembl chr 7:92,447,482...92,460,075 		JBrowse link
G GJA5 gap junction protein alpha 5 IAGP HPO ORPHA:334 NCBI chr 1:147,756,199...147,773,351
Ensembl chr 1:147,756,199...147,773,362 		JBrowse link
G HAND2 heart and neural crest derivatives expressed 2 IAGP HPO ORPHA:154 NCBI chr 4:173,526,091...173,530,229
Ensembl chr 4:173,524,969...173,530,229 		JBrowse link
G JPH2 junctophilin 2 IAGP HPO ORPHA:154 NCBI chr20:44,106,590...44,187,188
Ensembl chr20:44,106,590...44,187,188 		JBrowse link
G KCNA5 potassium voltage-gated channel subfamily A member 5 IAGP HPO ORPHA:334 NCBI chr12:5,043,879...5,046,788
Ensembl chr12:5,043,879...5,046,788 		JBrowse link
G KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 IAGP HPO ORPHA:334 NCBI chr21:34,446,688...34,512,210
Ensembl chr21:34,446,688...34,512,214 		JBrowse link
G KCNE2 potassium voltage-gated channel subfamily E regulatory subunit 2 IAGP HPO ORPHA:334 NCBI chr21:34,364,006...34,371,381
Ensembl chr21:34,364,006...34,371,381 		JBrowse link
G KCNJ2 potassium inwardly rectifying channel subfamily J member 2 IAGP HPO ORPHA:334 NCBI chr17:70,169,532...70,180,044
Ensembl chr17:70,168,673...70,180,044 		JBrowse link
G KCNJ3 potassium inwardly rectifying channel subfamily J member 3 IAGP HPO ORPHA:334 NCBI chr 2:154,698,695...154,858,354
Ensembl chr 2:154,697,855...154,858,354 		JBrowse link
G KCNJ5 potassium inwardly rectifying channel subfamily J member 5 IAGP HPO ORPHA:334 NCBI chr11:128,891,356...128,921,163
Ensembl chr11:128,891,356...128,921,163 		JBrowse link
G KCNQ1 potassium voltage-gated channel subfamily Q member 1 IAGP HPO OMIM:607554 ORPHA:334 NCBI chr11:2,445,008...2,849,105
Ensembl chr11:2,444,654...2,849,105 		JBrowse link
G LAMA4 laminin subunit alpha 4 IAGP HPO ORPHA:154 NCBI chr 6:112,107,931...112,254,985
Ensembl chr 6:112,107,931...112,254,939 		JBrowse link
G LDB3 LIM domain binding 3 IAGP HPO ORPHA:154 NCBI chr10:86,666,788...86,736,072
Ensembl chr10:86,666,785...86,736,072 		JBrowse link
G LMNA lamin A/C IAGP HPO ORPHA:154 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...156,140,081 		JBrowse link
G LMOD2 leiomodin 2 IAGP HPO ORPHA:154 NCBI chr 7:123,655,866...123,664,290
Ensembl chr 7:123,655,866...123,664,290 		JBrowse link
G MTHFR methylenetetrahydrofolate reductase IAGP HPO ORPHA:395 NCBI chr 1:11,785,723...11,805,964
Ensembl chr 1:11,785,723...11,806,455 		JBrowse link
G MYBPC3 myosin binding protein C3 IAGP HPO ORPHA:154 NCBI chr11:47,331,406...47,352,702
Ensembl chr11:47,331,406...47,352,702 		JBrowse link
G MYH6 myosin heavy chain 6 IAGP HPO ORPHA:154 NCBI chr14:23,381,987...23,408,273
Ensembl chr14:23,381,982...23,408,273 		JBrowse link
G MYH7 myosin heavy chain 7 IAGP HPO ORPHA:154 NCBI chr14:23,412,740...23,435,660
Ensembl chr14:23,412,740...23,435,660 		JBrowse link
G MYL4 myosin light chain 4 IAGP HPO ORPHA:334 NCBI chr17:47,189,433...47,227,650
Ensembl chr17:47,200,446...47,223,679 		JBrowse link
G MYPN myopalladin IAGP HPO ORPHA:154 NCBI chr10:68,087,897...68,212,017
Ensembl chr10:68,087,897...68,212,017 		JBrowse link
G NEXN nexilin F-actin binding protein IAGP HPO ORPHA:154 NCBI chr 1:77,888,624...77,943,895
Ensembl chr 1:77,888,513...77,943,895 		JBrowse link
G NKX2-5 NK2 homeobox 5 IAGP HPO ORPHA:334 NCBI chr 5:173,232,109...173,235,206
Ensembl chr 5:173,232,109...173,235,311 		JBrowse link
G NKX2-6 NK2 homeobox 6 IAGP HPO ORPHA:334 NCBI chr 8:23,701,740...23,706,756
Ensembl chr 8:23,701,740...23,706,756 		JBrowse link
G NPPA natriuretic peptide A IAGP HPO ORPHA:334 NCBI chr 1:11,845,709...11,847,783
Ensembl chr 1:11,845,709...11,848,345 		JBrowse link
G NUP155 nucleoporin 155 IAGP HPO ORPHA:334 NCBI chr 5:37,288,137...37,371,106
Ensembl chr 5:37,288,137...37,371,106 		JBrowse link
G PITX2 paired like homeodomain 2 IAGP HPO ORPHA:334 NCBI chr 4:110,617,423...110,642,123
Ensembl chr 4:110,617,423...110,642,123 		JBrowse link
G PLN phospholamban IAGP HPO ORPHA:154 NCBI chr 6:118,548,296...118,561,716
Ensembl chr 6:118,548,296...118,561,716 		JBrowse link
G PPCS phosphopantothenoylcysteine synthetase IAGP HPO ORPHA:154 NCBI chr 1:42,456,341...42,473,417
Ensembl chr 1:42,456,117...42,473,385 		JBrowse link
G PRDM16 PR/SET domain 16 IAGP HPO ORPHA:154 NCBI chr 1:3,069,203...3,438,621
Ensembl chr 1:3,069,168...3,438,621 		JBrowse link
G PSEN1 presenilin 1 IAGP HPO ORPHA:154 NCBI chr14:73,136,417...73,223,691
Ensembl chr14:73,136,418...73,223,691 		JBrowse link
G PSEN2 presenilin 2 IAGP HPO ORPHA:154 NCBI chr 1:226,870,616...226,903,668
Ensembl chr 1:226,870,184...226,927,726 		JBrowse link
G RAF1 Raf-1 proto-oncogene, serine/threonine kinase IAGP HPO ORPHA:154 NCBI chr 3:12,583,601...12,664,117
Ensembl chr 3:12,582,101...12,664,201 		JBrowse link
G RBM20 RNA binding motif protein 20 IAGP HPO ORPHA:154 NCBI chr10:110,643,245...110,839,468
Ensembl chr10:110,644,336...110,839,468 		JBrowse link
G RPL3L ribosomal protein L3 like IAGP HPO ORPHA:154 NCBI chr16:1,943,974...1,954,689
Ensembl chr16:1,943,974...1,957,606 		JBrowse link
G SCN1B sodium voltage-gated channel beta subunit 1 IAGP HPO ORPHA:334 NCBI chr19:35,030,470...35,040,449
Ensembl chr19:35,030,470...35,040,449 		JBrowse link
G SCN2B sodium voltage-gated channel beta subunit 2 IAGP HPO ORPHA:334 NCBI chr11:118,162,806...118,176,639
Ensembl chr11:118,162,806...118,176,639 		JBrowse link
G SCN3B sodium voltage-gated channel beta subunit 3 IAGP HPO ORPHA:334 NCBI chr11:123,629,188...123,654,624
Ensembl chr11:123,629,187...123,655,244 		JBrowse link
G SCN4B sodium voltage-gated channel beta subunit 4 IAGP HPO ORPHA:334 NCBI chr11:118,133,377...118,152,823
Ensembl chr11:118,133,377...118,152,888 		JBrowse link
G SCN5A sodium voltage-gated channel alpha subunit 5 IAGP HPO ORPHA:154 ORPHA:334 NCBI chr 3:38,548,062...38,649,687
Ensembl chr 3:38,548,057...38,649,743 		JBrowse link
G SDHA succinate dehydrogenase complex flavoprotein subunit A IAGP HPO ORPHA:154 NCBI chr 5:218,320...268,746
Ensembl chr 5:218,303...257,082 		JBrowse link
G SGCD sarcoglycan delta IAGP HPO ORPHA:154 NCBI chr 5:155,727,832...156,767,788
Ensembl chr 5:155,870,344...156,767,788 		JBrowse link
G TAF1A TATA-box binding protein associated factor, RNA polymerase I subunit A IAGP HPO ORPHA:154 NCBI chr 1:222,554,105...222,589,933
Ensembl chr 1:222,557,902...222,589,933 		JBrowse link
G TAFAZZIN tafazzin, phospholipid-lysophospholipid transacylase IAGP HPO ORPHA:154 NCBI chr  X:154,411,539...154,421,726
Ensembl chr  X:154,411,524...154,421,726 		JBrowse link
G TCAP titin-cap IAGP HPO ORPHA:154 NCBI chr17:39,665,349...39,666,554
Ensembl chr17:39,665,349...39,666,554 		JBrowse link
G TMPO thymopoietin IAGP HPO ORPHA:154 NCBI chr12:98,515,573...98,550,351
Ensembl chr12:98,515,579...98,550,351 		JBrowse link
G TNNC1 troponin C1, slow skeletal and cardiac type IAGP HPO ORPHA:154 NCBI chr 3:52,451,100...52,454,041
Ensembl chr 3:52,451,100...52,454,041 		JBrowse link
G TNNI3 troponin I3, cardiac type IAGP HPO ORPHA:154 NCBI chr19:55,151,767...55,157,732
Ensembl chr19:55,151,767...55,157,773 		JBrowse link
G TNNT2 troponin T2, cardiac type IAGP HPO ORPHA:154 NCBI chr 1:201,359,014...201,377,680
Ensembl chr 1:201,359,008...201,377,764 		JBrowse link
G TPM1 tropomyosin 1 IAGP HPO ORPHA:154 NCBI chr15:63,042,747...63,071,915
Ensembl chr15:63,042,620...63,071,915 		JBrowse link
G TTN titin IAGP HPO ORPHA:154 ORPHA:334 NCBI chr 2:178,525,989...178,807,423
Ensembl chr 2:178,525,989...178,830,802 		JBrowse link
G TXNRD2 thioredoxin reductase 2 IAGP HPO ORPHA:154 NCBI chr22:19,875,522...19,941,818
Ensembl chr22:19,875,517...19,941,820 		JBrowse link
G VCL vinculin IAGP HPO ORPHA:154 NCBI chr10:73,998,116...74,121,363
Ensembl chr10:73,995,193...74,121,363 		JBrowse link
G VEZF1 vascular endothelial zinc finger 1 IAGP HPO ORPHA:154 NCBI chr17:57,971,552...57,988,254
Ensembl chr17:57,971,547...57,988,259 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 21568
    Phenotypic abnormality 21558
      Abnormality of blood and blood-forming tissues 2649
        Abnormal thrombosis 242
          Thromboembolism 105
            Paradoxical embolism 0
            Pulmonary thromboembolism 2
            Recurrent thromboembolism 2
            Septic embolism + 0
            Thromboembolic stroke 74
paths to the root