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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:hemorrhagic disease
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Accession:DOID:2213 term browser browse the term
Definition:Spontaneous or near spontaneous bleeding caused by a defect in clotting mechanisms (BLOOD COAGULATION DISORDERS) or another abnormality causing a structural flaw in the blood vessels (HEMOSTATIC DISORDERS).
Synonyms:exact_synonym: Hemorrhagic Diatheses;   Hemorrhagic Diathesis;   Hemorrhagic Disorder;   Hemorrhagic Disorders
 primary_id: MESH:D006474;   RDO:0003677
 xref: ICD10CM:D69.9;   ICD9CM:287.9
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
hemorrhagic disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcg5 ATP binding cassette subfamily G member 5 ISO ClinVar Annotator: match by term: Hemorrhagic diathesis ClinVar NCBI chr 6:7,935,771...7,961,207
Ensembl chr 6:7,935,771...7,961,207
JBrowse link
G Abcg8 ATP binding cassette subfamily G member 8 ISO ClinVar Annotator: match by term: Hemorrhagic diathesis ClinVar PMID:28492532 NCBI chr 6:7,961,413...7,980,708
Ensembl chr 6:7,961,413...7,980,708
JBrowse link
G Actn1 actinin, alpha 1 ISO ClinVar Annotator: match by term: Hemorrhagic diathesis ClinVar PMID:25741868 PMID:31064749 NCBI chr 6:103,376,557...103,470,497
Ensembl chr 6:103,375,799...103,470,555
JBrowse link
G Acvrl1 activin A receptor like type 1 ISO ClinVar Annotator: match by term: Hemorrhagic diathesis ClinVar PMID:24033266 PMID:28492532 NCBI chr 7:142,769,942...142,787,336
Ensembl chr 7:142,776,252...142,787,335
JBrowse link
G Adamts13 ADAM metallopeptidase with thrombospondin type 1 motif, 13 ISO ClinVar Annotator: match by term: Hemorrhagic diathesis ClinVar NCBI chr 3:5,519,921...5,558,390
Ensembl chr 3:5,519,990...5,558,166
JBrowse link
G Ankrd26 ankyrin repeat domain 26 ISO ClinVar Annotator: match by term: Hemorrhagic diathesis ClinVar PMID:28492532 NCBI chr 4:150,548,656...150,616,928
Ensembl chr 4:150,547,467...150,616,895
JBrowse link
G Ap3b1 adaptor related protein complex 3 subunit beta 1 ISO ClinVar Annotator: match by term: Hemorrhagic diathesis ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:24,022,815...24,227,522
Ensembl chr 2:24,024,791...24,226,224
JBrowse link
G Ap3d1 adaptor related protein complex 3 subunit delta 1 ISO ClinVar Annotator: match by term: Hemorrhagic diathesis ClinVar NCBI chr 7:11,838,639...11,873,992
Ensembl chr 7:11,838,639...11,873,984
JBrowse link
G Arpc1b actin related protein 2/3 complex, subunit 1B ISO ClinVar Annotator: match by term: Hemorrhagic diathesis ClinVar PMID:25741868 NCBI chr12:11,252,300...11,265,849
Ensembl chr12:11,252,296...11,265,865
JBrowse link
G Arvcf ARVCF, delta catenin family member ISO ClinVar Annotator: match by term: Hemorrhagic diathesis ClinVar PMID:25741868 PMID:31064749 NCBI chr11:86,736,125...86,793,795
Ensembl chr11:86,736,142...86,793,791
JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Hemorrhagic diathesis ClinVar PMID:25741868 PMID:31064749 NCBI chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789
JBrowse link
G Col5a1 collagen type V alpha 1 chain ISO ClinVar Annotator: match by term: Hemorrhagic diathesis ClinVar PMID:25741868 PMID:28492532 PMID:31064749 NCBI chr 3:6,430,180...6,581,010
Ensembl chr 3:6,430,201...6,578,882
JBrowse link
G Col5a2 collagen type V alpha 2 chain ISO ClinVar Annotator: match by term: Hemorrhagic diathesis ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:52,091,088...52,238,735
Ensembl chr 9:52,092,511...52,238,564
JBrowse link
G Comt catechol-O-methyltransferase ISO ClinVar Annotator: match by term: Hemorrhagic diathesis ClinVar PMID:25741868 PMID:31064749 NCBI chr11:86,715,981...86,735,630
Ensembl chr11:86,715,981...86,735,622
JBrowse link
G Cycs cytochrome c, somatic ISO ClinVar Annotator: match by term: Hemorrhagic diathesis ClinVar NCBI chr 4:80,331,226...80,333,326
Ensembl chr 4:80,331,227...80,333,326
JBrowse link
G Dgcr8 DGCR8 microprocessor complex subunit ISO ClinVar Annotator: match by term: Hemorrhagic diathesis ClinVar PMID:25741868 PMID:31064749 NCBI chr11:86,852,682...86,885,233
Ensembl chr11:86,852,711...86,885,224
JBrowse link
G Dync2li1 dynein cytoplasmic 2 light intermediate chain 1 ISO ClinVar Annotator: match by term: Hemorrhagic diathesis ClinVar NCBI chr 6:7,900,962...7,933,795
Ensembl chr 6:7,900,972...7,933,796
JBrowse link
G Etv6 ETS variant transcription factor 6 ISO ClinVar Annotator: match by term: Hemorrhagic diathesis ClinVar NCBI chr 4:167,754,684...167,992,370
Ensembl chr 4:167,754,525...167,992,168
JBrowse link
G F10 coagulation factor X ISO ClinVar Annotator: match by term: Hemorrhagic diathesis ClinVar PMID:7669671 PMID:25582404 PMID:25741868 PMID:26879396 PMID:31064749 NCBI chr16:81,803,169...81,822,476
Ensembl chr16:81,803,110...81,822,716
JBrowse link
G F11 coagulation factor XI ISO ClinVar Annotator: match by term: Hemorrhagic diathesis ClinVar PMID:2052060 PMID:2813350 PMID:10593931 PMID:11122101 PMID:15026311 PMID:15140127 PMID:15531455 PMID:16079124 PMID:16519703 PMID:16835901 PMID:18515884 PMID:20015217 PMID:21668437 PMID:24033266 PMID:24982842 PMID:25741868 PMID:28492532 PMID:31064749 NCBI chr16:50,179,458...50,201,644
Ensembl chr16:50,179,458...50,201,698
JBrowse link
G F13a1 coagulation factor XIII A1 chain ISO ClinVar Annotator: match by term: Hemorrhagic diathesis ClinVar NCBI chr17:28,504,650...28,680,015
Ensembl chr17:28,504,623...28,680,362
JBrowse link
G F5 coagulation factor V ISO ClinVar Annotator: match by term: Hemorrhagic diathesis ClinVar PMID:25741868 PMID:28492532 PMID:31064749 NCBI chr13:82,479,997...82,535,540
Ensembl chr13:82,479,998...82,535,534
JBrowse link
G F7 coagulation factor VII ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hemorrhagic diathesis
CTD
ClinVar
PMID:7981691 PMID:10862079 PMID:11931672 PMID:15456489 PMID:15735798 PMID:16706976 PMID:18282149 PMID:22180436 PMID:25582404 PMID:25741868 PMID:31064749 NCBI chr16:81,824,610...81,834,923
Ensembl chr16:81,824,111...81,834,945
JBrowse link
G F8 coagulation factor VIII ISO ClinVar Annotator: match by term: Hemorrhagic diathesis ClinVar PMID:25741868 PMID:31064749 NCBI chr18:367,862...399,242
Ensembl chr18:367,862...399,242
JBrowse link
G Fga fibrinogen alpha chain ISO ClinVar Annotator: match by term: Hemorrhagic diathesis ClinVar PMID:2738154 PMID:3345340 PMID:3590111 PMID:3618591 PMID:4052020 PMID:6191801 PMID:7298640 PMID:25741868 PMID:28492532 PMID:31064749 NCBI chr 2:181,997,562...182,013,726
Ensembl chr 2:182,006,242...182,013,763
JBrowse link
G Fgb fibrinogen beta chain ISO ClinVar Annotator: match by term: Hemorrhagic diathesis ClinVar PMID:10688828 PMID:19420351 PMID:24033266 PMID:25741868 PMID:28492532 PMID:31064749 NCBI chr 2:182,028,044...182,035,026
Ensembl chr 2:182,027,115...182,038,178
JBrowse link
G Fgg fibrinogen gamma chain ISO ClinVar Annotator: match by term: Hemorrhagic diathesis ClinVar PMID:10688828 PMID:11019970 PMID:23560673 PMID:24556703 PMID:25741868 PMID:28492532 PMID:31064749 NCBI chr 2:181,987,080...181,994,523
Ensembl chr 2:181,987,217...181,994,514
JBrowse link
G Fli1 Fli-1 proto-oncogene, ETS transcription factor ISO ClinVar Annotator: match by term: Hemorrhagic diathesis ClinVar PMID:24100448 PMID:32581362 NCBI chr 8:33,541,932...33,661,111
Ensembl chr 8:33,543,258...33,661,049
JBrowse link
G Flna filamin A ISO ClinVar Annotator: match by term: Hemorrhagic diathesis ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr  X:156,460,785...156,487,245
Ensembl chr  X:156,463,953...156,487,245
JBrowse link
G Gba glucosylceramidase beta ISO ClinVar Annotator: match by term: Hemorrhagic diathesis ClinVar PMID:1348297 PMID:1897529 PMID:1899336 PMID:1971142 PMID:2117855 PMID:2309702 PMID:2569551 PMID:3353383 PMID:7789963 PMID:8294487 PMID:8450045 PMID:8487270 PMID:8516282 PMID:9153297 PMID:9554746 PMID:10466427 PMID:10757640 PMID:10796875 PMID:12482401 PMID:12595585 PMID:14757438 PMID:15146461 PMID:16293621 PMID:16981045 PMID:17395504 PMID:17427031 PMID:18332251 PMID:18338393 PMID:18434642 PMID:18979180 PMID:18987351 PMID:19217815 PMID:19260119 PMID:19286695 PMID:19846850 PMID:20662857 PMID:20672374 PMID:20846888 PMID:20947659 PMID:20980259 PMID:21431620 PMID:21472771 PMID:22160715 PMID:22192918 PMID:22220748 PMID:22451204 PMID:22592100 PMID:22968580 PMID:23430543 PMID:23676350 PMID:24022302 PMID:24033266 PMID:24756352 PMID:25249066 PMID:25456120 PMID:25653295 PMID:25732996 PMID:25741868 PMID:25946768 PMID:26096741 PMID:26868973 PMID:26905200 PMID:27872820 PMID:28492532 PMID:28779532 PMID:28923368 PMID:29527153 PMID:33223529 NCBI chr 2:188,511,781...188,522,602
Ensembl chr 2:188,516,582...188,522,601
JBrowse link
G Gfi1b growth factor independent 1B transcriptional repressor ISO ClinVar Annotator: match by term: Hemorrhagic diathesis ClinVar NCBI chr 3:7,190,721...7,203,444
Ensembl chr 3:7,190,722...7,203,420
JBrowse link
G Ggcx gamma-glutamyl carboxylase ISO ClinVar Annotator: match by term: Hemorrhagic diathesis ClinVar PMID:24520408 RGD:11040512 NCBI chr 4:100,277,345...100,293,097
Ensembl chr 4:100,277,391...100,293,250
JBrowse link
G Gnas GNAS complex locus ISO CTD Direct Evidence: marker/mechanism CTD PMID:11583302 NCBI chr 3:172,374,957...172,434,988
Ensembl chr 3:172,374,957...172,428,483
Ensembl chr 3:172,374,957...172,428,483
JBrowse link
G Gnb1l G protein subunit beta 1 like ISO ClinVar Annotator: match by term: Hemorrhagic diathesis ClinVar PMID:25741868 PMID:31064749 NCBI chr11:86,575,229...86,655,614
Ensembl chr11:86,577,339...86,655,602
JBrowse link
G Gp1ba glycoprotein Ib platelet subunit alpha ISO ClinVar Annotator: match by term: Hemorrhagic diathesis ClinVar NCBI chr10:57,260,680...57,263,546
Ensembl chr10:57,260,680...57,263,546
JBrowse link
G Gp1bb glycoprotein Ib platelet subunit beta ISO ClinVar Annotator: match by term: Hemorrhagic diathesis ClinVar PMID:25741868 PMID:31064749 NCBI chr11:86,520,992...86,522,169
Ensembl chr11:86,520,992...86,522,169
JBrowse link
G Gp6 glycoprotein VI ISO ClinVar Annotator: match by term: Hemorrhagic diathesis ClinVar PMID:25741868 PMID:31064749 NCBI chr 1:72,994,977...73,064,639
Ensembl chr 1:73,040,901...73,064,641
JBrowse link
G Hoxa11 homeobox A11 ISO ClinVar Annotator: match by term: Hemorrhagic diathesis ClinVar NCBI chr 4:82,296,888...82,301,419
Ensembl chr 4:82,298,152...82,300,503
Ensembl chr 4:82,298,152...82,300,503
JBrowse link
G Hps3 HPS3, biogenesis of lysosomal organelles complex 2 subunit 1 ISO ClinVar Annotator: match by term: Hemorrhagic diathesis ClinVar NCBI chr 2:104,789,423...104,832,964
Ensembl chr 2:104,789,423...104,830,898
JBrowse link
G Hps5 HPS5, biogenesis of lysosomal organelles complex 2 subunit 2 ISO ClinVar Annotator: match by term: Hemorrhagic diathesis ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 1:102,810,114...102,849,430
Ensembl chr 1:102,776,082...102,849,430
JBrowse link
G Hps6 HPS6, biogenesis of lysosomal organelles complex 2 subunit 3 ISO ClinVar Annotator: match by term: Hemorrhagic diathesis ClinVar NCBI chr 1:265,761,818...265,764,427
Ensembl chr 1:265,761,738...265,764,437
JBrowse link
G Hrg histidine-rich glycoprotein ISO ClinVar Annotator: match by term: Hemorrhagic diathesis ClinVar NCBI chr11:81,621,274...81,639,938
Ensembl chr11:81,621,283...81,639,952
JBrowse link
G Itga2b integrin subunit alpha 2b ISO ClinVar Annotator: match by term: Hemorrhagic diathesis ClinVar NCBI chr10:90,397,960...90,416,550
Ensembl chr10:90,398,132...90,415,070
JBrowse link
G Itgb3 integrin subunit beta 3 ISO ClinVar Annotator: match by term: Hemorrhagic diathesis ClinVar PMID:25741868 PMID:28492532 PMID:31064749 NCBI chr10:92,667,869...92,783,413
Ensembl chr10:92,667,869...92,783,410
JBrowse link
G Klhl22 kelch-like family member 22 ISO ClinVar Annotator: match by term: Hemorrhagic diathesis ClinVar PMID:25741868 PMID:31064749 NCBI chr11:87,646,489...87,718,808
Ensembl chr11:87,677,966...87,718,826
JBrowse link
G Klkb1 kallikrein B1 ISO ClinVar Annotator: match by term: Hemorrhagic diathesis ClinVar NCBI chr16:50,151,127...50,175,407
Ensembl chr16:50,152,008...50,175,458
JBrowse link
G LOC102548901 protein Bop-like ISO ClinVar Annotator: match by term: Hemorrhagic diathesis ClinVar PMID:25741868 PMID:31064749 NCBI chr12:6,230,524...6,231,398 JBrowse link
G Lyst lysosomal trafficking regulator ISO ClinVar Annotator: match by term: Hemorrhagic diathesis ClinVar PMID:25741868 PMID:28492532 NCBI chr17:90,323,055...90,522,091 JBrowse link
G Mcfd2 multiple coagulation factor deficiency 2, ER cargo receptor complex subunit ISO ClinVar Annotator: match by term: Hemorrhagic diathesis ClinVar NCBI chr 6:10,887,303...10,899,221
Ensembl chr 6:10,887,288...10,899,200
JBrowse link
G Mecom MDS1 and EVI1 complex locus ISO ClinVar Annotator: match by term: Hemorrhagic diathesis ClinVar NCBI chr 2:117,396,084...117,993,604
Ensembl chr 2:117,396,007...117,454,769
JBrowse link
G Med12l mediator complex subunit 12L ISO ClinVar Annotator: match by term: Hemorrhagic diathesis ClinVar NCBI chr 2:149,213,134...149,316,569
Ensembl chr 2:149,213,134...149,532,292
JBrowse link
G Med15 mediator complex subunit 15 ISO ClinVar Annotator: match by term: Hemorrhagic diathesis ClinVar PMID:25741868 PMID:31064749 NCBI chr11:87,553,868...87,628,631
Ensembl chr11:87,553,868...87,628,502
JBrowse link
G Mpig6b megakaryocyte and platelet inhibitory receptor G6b ISO ClinVar Annotator: match by term: Hemorrhagic diathesis ClinVar NCBI chr20:5,054,419...5,056,655
Ensembl chr20:5,054,583...5,056,488
JBrowse link
G Mpl MPL proto-oncogene, thrombopoietin receptor ISO ClinVar Annotator: match by term: Hemorrhagic diathesis ClinVar PMID:24728327 PMID:28492532 NCBI chr 5:137,268,412...137,282,032
Ensembl chr 5:137,269,480...137,281,298
JBrowse link
G Myh9 myosin, heavy chain 9 ISO ClinVar Annotator: match by term: Hemorrhagic diathesis ClinVar PMID:10739770 PMID:10973259 PMID:10973260 PMID:11590545 PMID:25741868 PMID:29090586 NCBI chr 7:118,740,005...118,792,507
Ensembl chr 7:118,741,110...118,792,625
JBrowse link
G Nbea neurobeachin ISO ClinVar Annotator: match by term: Hemorrhagic diathesis ClinVar NCBI chr 2:145,011,648...145,513,439 JBrowse link
G Nbeal2 neurobeachin-like 2 ISO ClinVar Annotator: match by term: Hemorrhagic diathesis ClinVar PMID:28492532 NCBI chr 8:118,893,987...118,924,390
Ensembl chr 8:118,893,995...118,926,613
JBrowse link
G P2ry12 purinergic receptor P2Y12 ISO ClinVar Annotator: match by term: Hemorrhagic diathesis ClinVar NCBI chr 2:149,440,807...149,482,592
Ensembl chr 2:149,441,598...149,444,548
JBrowse link
G Pcid2 PCI domain containing 2 ISO ClinVar Annotator: match by term: Hemorrhagic diathesis ClinVar NCBI chr16:81,757,582...81,783,047
Ensembl chr16:81,756,971...81,783,047
JBrowse link
G Pi4ka phosphatidylinositol 4-kinase alpha ISO ClinVar Annotator: match by term: Hemorrhagic diathesis ClinVar PMID:25741868 PMID:31064749 NCBI chr11:87,858,323...87,975,549
Ensembl chr11:87,858,453...87,973,422
JBrowse link
G Plat plasminogen activator, tissue type ISO ClinVar Annotator: match by term: Hemorrhagic diathesis ClinVar NCBI chr16:74,098,263...74,122,897
Ensembl chr16:74,098,260...74,122,889
JBrowse link
G Plg plasminogen ISO ClinVar Annotator: match by term: Hemorrhagic diathesis ClinVar NCBI chr 1:48,521,828...48,563,895
Ensembl chr 1:48,521,772...48,563,776
JBrowse link
G Pros1 protein S ISO ClinVar Annotator: match by term: Hemorrhagic diathesis ClinVar PMID:8943854 PMID:9651142 PMID:20880255 PMID:25741868 PMID:28492532 PMID:31064749 NCBI chr 7:1,206,648...1,288,140
Ensembl chr 7:1,206,648...1,288,134
JBrowse link
G Proz protein Z, vitamin K-dependent plasma glycoprotein ISO ClinVar Annotator: match by term: Hemorrhagic diathesis ClinVar NCBI chr16:81,784,348...81,797,889
Ensembl chr16:81,784,348...81,797,815
JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO ClinVar Annotator: match by term: Hemorrhagic diathesis ClinVar PMID:11704759 PMID:11992261 PMID:12161469 PMID:12634870 PMID:12717436 PMID:12960218 PMID:14974085 PMID:15001945 PMID:15240615 PMID:15248152 PMID:15539800 PMID:15723289 PMID:15834506 PMID:15929108 PMID:15956085 PMID:15987685 PMID:16078230 PMID:16124853 PMID:16263833 PMID:16358218 PMID:16377799 PMID:16399795 PMID:16498234 PMID:17020470 PMID:17143285 PMID:17339163 PMID:17515436 PMID:17546245 PMID:17661820 PMID:18253957 PMID:18331608 PMID:19077116 PMID:19133693 PMID:19352411 PMID:19509418 PMID:20308328 PMID:20979190 PMID:21340158 PMID:21407260 PMID:21567923 PMID:21590266 PMID:22190897 PMID:22465605 PMID:23726368 PMID:24033266 PMID:24628801 PMID:24803665 PMID:25326637 PMID:25741868 PMID:25912702 PMID:26467025 PMID:26785492 PMID:26817465 PMID:27521173 PMID:28483241 PMID:28492532 PMID:28650561 PMID:28957739 PMID:29493581 PMID:32581362 PMID:32860008 NCBI chr12:40,895,515...40,955,999
Ensembl chr12:40,895,515...40,955,999
JBrowse link
G Ranbp1 RAN binding protein 1 ISO ClinVar Annotator: match by term: Hemorrhagic diathesis ClinVar PMID:25741868 PMID:31064749 NCBI chr11:86,890,585...86,898,818
Ensembl chr11:86,890,585...86,898,818
JBrowse link
G Rasgrp2 RAS guanyl releasing protein 2 ISO ClinVar Annotator: match by term: Hemorrhagic diathesis ClinVar PMID:25741868 PMID:31064749 NCBI chr 1:221,771,238...221,788,765
Ensembl chr 1:221,773,254...221,788,765
JBrowse link
G Rtn4r reticulon 4 receptor ISO ClinVar Annotator: match by term: Hemorrhagic diathesis ClinVar PMID:25741868 PMID:31064749 NCBI chr11:86,992,665...87,017,091
Ensembl chr11:86,992,399...87,017,115
JBrowse link
G Runx1 RUNX family transcription factor 1 ISO ClinVar Annotator: match by term: Hemorrhagic diathesis ClinVar PMID:10068652 PMID:11830488 PMID:17485549 PMID:17650443 PMID:19357396 PMID:22012064 PMID:25741868 PMID:26316320 PMID:27112265 PMID:27479822 PMID:28492532 PMID:31064749 PMID:32581362 NCBI chr11:32,765,147...33,003,061
Ensembl chr11:32,769,165...33,003,021
JBrowse link
G Scarf2 scavenger receptor class F, member 2 ISO ClinVar Annotator: match by term: Hemorrhagic diathesis ClinVar PMID:25741868 PMID:31064749 NCBI chr11:87,722,350...87,733,734
Ensembl chr11:87,722,350...87,733,734
JBrowse link
G Septin5 septin 5 ISO ClinVar Annotator: match by term: Hemorrhagic diathesis ClinVar PMID:25741868 PMID:31064749 NCBI chr11:86,516,377...86,522,169
Ensembl chr11:86,512,797...86,522,168
JBrowse link
G Serpinc1 serpin family C member 1 ISO ClinVar Annotator: match by term: Hemorrhagic diathesis ClinVar PMID:1906811 PMID:2012760 PMID:25741868 PMID:28492532 NCBI chr13:78,806,107...78,820,375
Ensembl chr13:78,805,347...78,833,192
JBrowse link
G Serpind1 serpin family D member 1 ISO ClinVar Annotator: match by term: Hemorrhagic diathesis ClinVar PMID:25741868 PMID:31064749 NCBI chr11:87,913,814...87,924,880
Ensembl chr11:87,913,806...87,924,816
JBrowse link
G Serpine1 serpin family E member 1 ISO ClinVar Annotator: match by term: Hemorrhagic diathesis ClinVar PMID:25741868 PMID:31064749 NCBI chr12:22,641,104...22,651,482
Ensembl chr12:22,641,104...22,651,482
JBrowse link
G Serpinf2 serpin family F member 2 ISO ClinVar Annotator: match by term: Hemorrhagic diathesis ClinVar PMID:25741868 PMID:31064749 NCBI chr10:62,264,247...62,272,353
Ensembl chr10:62,264,788...62,273,119
JBrowse link
G Slc45a2 solute carrier family 45, member 2 ISO ClinVar Annotator: match by term: Hemorrhagic diathesis ClinVar NCBI chr 2:60,966,671...60,999,398
Ensembl chr 2:60,966,789...60,999,398
JBrowse link
G Slfn14 schlafen family member 14 ISO ClinVar Annotator: match by term: Hemorrhagic diathesis ClinVar PMID:26280575 PMID:32581362 NCBI chr10:70,493,340...70,504,810 JBrowse link
G Smad4 SMAD family member 4 ISO ClinVar Annotator: match by term: Hemorrhagic diathesis ClinVar NCBI chr18:69,626,682...69,657,373
Ensembl chr18:69,627,757...69,671,199
JBrowse link
G Stxbp2 syntaxin binding protein 2 ISO ClinVar Annotator: match by term: Hemorrhagic diathesis ClinVar PMID:24916509 PMID:28399723 PMID:28492532 NCBI chr12:2,180,101...2,191,863
Ensembl chr12:2,180,150...2,191,175
JBrowse link
G Tango2 transport and golgi organization 2 homolog ISO ClinVar Annotator: match by term: Hemorrhagic diathesis ClinVar PMID:25741868 PMID:31064749 NCBI chr11:86,793,959...86,840,556
Ensembl chr11:86,797,557...86,840,573
JBrowse link
G Tbx1 T-box transcription factor 1 ISO ClinVar Annotator: match by term: Hemorrhagic diathesis ClinVar PMID:25741868 PMID:31064749 NCBI chr11:86,552,022...86,561,647
Ensembl chr11:86,552,022...86,560,969
JBrowse link
G Tbxa2r thromboxane A2 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19828703 NCBI chr 7:11,253,153...11,259,233
Ensembl chr 7:11,253,180...11,257,977
JBrowse link
G Tbxas1 thromboxane A synthase 1 ISO ClinVar Annotator: match by term: Hemorrhagic diathesis ClinVar NCBI chr 4:66,624,181...66,846,745
Ensembl chr 4:66,670,618...66,846,805
JBrowse link
G Thbd thrombomodulin ISO ClinVar Annotator: match by term: Hemorrhagic diathesis ClinVar PMID:25741868 PMID:28492532 PMID:31064749 NCBI chr 3:142,748,673...142,752,325
Ensembl chr 3:142,748,674...142,752,325
JBrowse link
G Thpo thrombopoietin ISO ClinVar Annotator: match by term: Hemorrhagic diathesis ClinVar PMID:25741868 PMID:31064749 NCBI chr11:82,845,676...82,853,439
Ensembl chr11:83,868,655...83,873,910
Ensembl chr11:83,868,655...83,873,910
JBrowse link
G Tpm4 tropomyosin 4 ISO ClinVar Annotator: match by term: Hemorrhagic diathesis ClinVar NCBI chr16:19,385,810...19,399,851
Ensembl chr16:19,385,736...19,399,903
JBrowse link
G Trmt2a tRNA methyltransferase 2 homolog A ISO ClinVar Annotator: match by term: Hemorrhagic diathesis ClinVar PMID:25741868 PMID:31064749 NCBI chr11:86,885,671...86,890,482
Ensembl chr11:86,885,626...86,890,390
JBrowse link
G Tubb1 tubulin, beta 1 class VI ISO ClinVar Annotator: match by term: Hemorrhagic diathesis ClinVar NCBI chr 3:172,550,252...172,558,089
Ensembl chr 3:172,550,258...172,558,114
JBrowse link
G Txnrd2 thioredoxin reductase 2 ISO ClinVar Annotator: match by term: Hemorrhagic diathesis ClinVar PMID:25741868 PMID:31064749 NCBI chr11:86,667,994...86,716,063
Ensembl chr11:86,667,997...86,716,254
JBrowse link
G Vps33b VPS33B, late endosome and lysosome associated ISO ClinVar Annotator: match by term: Hemorrhagic diathesis ClinVar PMID:28492532 NCBI chr 1:142,060,955...142,083,955
Ensembl chr 1:142,060,955...142,083,953
JBrowse link
G Vwf von Willebrand factor ISO ClinVar Annotator: match by term: Hemorrhagic diathesis ClinVar PMID:1301136 PMID:1302613 PMID:1581215 PMID:1832934 PMID:1906179 PMID:1906877 PMID:1918030 PMID:2018834 PMID:2104761 PMID:7620154 PMID:7734373 PMID:8165603 PMID:8367445 PMID:8500791 PMID:9684781 PMID:10845912 PMID:11776047 PMID:12211196 PMID:15461624 PMID:15670054 PMID:16953269 PMID:16985174 PMID:17087728 PMID:17190853 PMID:17200787 PMID:18315556 PMID:18384353 PMID:18712522 PMID:18805962 PMID:19277422 PMID:19404524 PMID:19566550 PMID:19951969 PMID:20301765 PMID:20409624 PMID:20586924 PMID:20981092 PMID:21371195 PMID:21429375 PMID:22197721 PMID:22315491 PMID:22329792 PMID:22578129 PMID:22875612 PMID:23340442 PMID:23349392 PMID:23426949 PMID:23636243 PMID:23648131 PMID:24029428 PMID:24033266 PMID:24928861 PMID:25185554 PMID:25696906 PMID:25741868 PMID:26200876 PMID:26207643 PMID:26467025 PMID:26879396 PMID:26986123 PMID:27320760 PMID:27443694 PMID:28581694 PMID:28971901 PMID:29924855 PMID:31064749 NCBI chr 4:158,085,059...158,219,525
Ensembl chr 4:158,088,505...158,219,523
JBrowse link
G Was WASP actin nucleation promoting factor ISO ClinVar Annotator: match by term: Hemorrhagic diathesis ClinVar NCBI chr  X:15,155,246...15,164,099
Ensembl chr  X:15,155,230...15,164,105
JBrowse link
G Zdhhc8 zinc finger DHHC-type palmitoyltransferase 8 ISO ClinVar Annotator: match by term: Hemorrhagic diathesis ClinVar PMID:25741868 PMID:31064749 NCBI chr11:86,903,122...86,917,261
Ensembl chr11:86,903,122...86,915,715
JBrowse link
G Zim1 zinc finger, imprinted 1 ISO ClinVar Annotator: match by term: Hemorrhagic diathesis ClinVar PMID:25741868 PMID:31064749 NCBI chr 1:70,244,828...70,268,289
Ensembl chr 1:70,253,650...70,266,809
JBrowse link
Acute Traumatic Coagulopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Plat plasminogen activator, tissue type treatment IDA
IEP
protein:increased expression:serum (rat) RGD PMID:25325345, PMID:25676919 RGD:11554179, RGD:11554180 NCBI chr16:74,098,263...74,122,897
Ensembl chr16:74,098,260...74,122,889
JBrowse link
alpha-2-plasmin inhibitor deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Serpinf2 serpin family F member 2 ISO ClinVar Annotator: match by null
ClinVar Annotator: match by OMIM:262850
OMIM
ClinVar
PMID:2496145 PMID:7095605 PMID:10583218 NCBI chr10:62,264,247...62,272,353
Ensembl chr10:62,264,788...62,273,119
JBrowse link
atypical hemolytic-uremic syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamts13 ADAM metallopeptidase with thrombospondin type 1 motif, 13 ISO protein:decreased activity:serum (human)
ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome
ClinVar PMID:12753286 PMID:17187257 PMID:17627784 PMID:28492532, PMID:12640381 RGD:10449096 NCBI chr 3:5,519,921...5,558,390
Ensembl chr 3:5,519,990...5,558,166
JBrowse link
G Baat bile acid CoA:amino acid N-acyltransferase ISO ClinVar Annotator: match by term: atypical hemolytic uremic syndrome ClinVar NCBI chr 5:64,768,397...64,777,368
Ensembl chr 5:64,768,401...64,777,368
JBrowse link
G C2 complement C2 ISO ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4
ClinVar PMID:2249879 PMID:6308626 PMID:8181962 PMID:16518403 PMID:16936732 PMID:18806293 PMID:20108004 PMID:20513133 PMID:21541267 PMID:22440158 PMID:24033266 PMID:24652797 PMID:25741868 NCBI chr20:4,542,340...4,561,152
Ensembl chr20:4,542,340...4,561,152
JBrowse link
G C3 complement C3 susceptibility ISO ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5
ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:612925
DNA:missense mutations: :p.F603V, p.R1042L, p.I1157T (human)
ClinVar
CTD
OMIM
PMID:1976733 PMID:14639503 PMID:17634448 PMID:18325906 PMID:18796626 PMID:19168221 PMID:20301541 PMID:20595690 PMID:23314101 PMID:23431077 PMID:24036949 PMID:24036950 PMID:24036952 PMID:24736606 PMID:24845532 PMID:25608561 PMID:25741868 PMID:25951460 PMID:26613027 PMID:28492532 PMID:30131807, PMID:17517971, PMID:20513133 RGD:7364995, RGD:11040768 NCBI chr 9:9,721,137...9,747,084
Ensembl chr 9:9,721,105...9,747,167
JBrowse link
G C3ar1 complement C3a receptor 1 ISO ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1 ClinVar NCBI chr 4:155,681,767...155,691,240
Ensembl chr 4:155,684,029...155,690,869
JBrowse link
G Cd46 CD46 molecule susceptibility
severity
ISO ClinVar Annotator: match by OMIM:612922
ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2
ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome
CTD Direct Evidence: marker/mechanism
protein:increased expression:peripheral blood mononuclear cell (human)
DNA:snp:intron:c.IVS8+23T>G (rs2724374) (human)
DNA:missense mutations:cds:p.R69W, p.A304V (human)
DNA:mutations:cds:multiple (human)
ClinVar
OMIM
CTD
PMID:270646 PMID:3480783 PMID:9551389 PMID:10528197 PMID:14566051 PMID:14615110 PMID:16621965 PMID:16762990 PMID:16882452 PMID:17089378 PMID:20513133 PMID:21706448 PMID:23431077 PMID:23731345 PMID:24033266 PMID:24161037 PMID:24247905 PMID:24944786 PMID:25381125 PMID:25525159 PMID:25741868 PMID:25899302 PMID:26054645 PMID:26307634 PMID:26559391 PMID:28056875 PMID:28492532, PMID:16353080, PMID:20513133, PMID:17914026, PMID:20595690 RGD:11352810, RGD:11040768, RGD:11352768, RGD:11038684 NCBI chr13:113,786,525...113,818,741
Ensembl chr13:113,787,349...113,817,995
JBrowse link
G Cfb complement factor B susceptibility ISO DNA, protein:mutations:cds: c.858C>G, F286L, c.967A>G, K323E (human)
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4
ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome
CTD Direct Evidence: marker/mechanism
DNA:nonsense mutations: :multiple
ClinVar Annotator: match by OMIM:612924
ClinVar
OMIM
CTD
PMID:2249879 PMID:6308626 PMID:7452889 PMID:8181962 PMID:15661753 PMID:16518403 PMID:16936732 PMID:17182750 PMID:18806293 PMID:20108004 PMID:20513133 PMID:21541267 PMID:22440158 PMID:23847193 PMID:24033266 PMID:24652797 PMID:25741868 PMID:26054779, PMID:17182750, PMID:20513133 RGD:7242707, RGD:11040768 NCBI chr20:4,536,206...4,542,073
Ensembl chr20:4,536,203...4,561,066
Ensembl chr20:4,536,203...4,561,066
JBrowse link
G Cfh complement factor H susceptibility ISO
IMP
DNA:missense mutation
ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical
ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4
CTD Direct Evidence: marker/mechanism
DNA:nonsense mutations, missense mutations, splice-site mutation: :multiple
ClinVar Annotator: match by OMIM:235400
DNA:deletion:Cds:
DNA:SNPs,Haplotype::
ClinVar
OMIM
CTD
PMID:646435 PMID:8072530 PMID:9551389 PMID:9811382 PMID:9848786 PMID:10577907 PMID:10762557 PMID:11158219 PMID:11170895 PMID:11170896 PMID:11978762 PMID:12424708 PMID:12697737 PMID:14978182 PMID:15761120 PMID:15870199 PMID:16299065 PMID:16619239 PMID:17018561 PMID:17947292 PMID:18252712 PMID:18268093 PMID:18557729 PMID:19190809 PMID:19259132 PMID:19297022 PMID:20513133 PMID:21415311 PMID:21909106 PMID:22019782 PMID:22171659 PMID:22223606 PMID:22389686 PMID:22403278 PMID:22456601 PMID:23852337 PMID:24036949 PMID:24498017 PMID:25037630 PMID:25741868 PMID:25814826 PMID:25880396 PMID:26559391 PMID:28492532 PMID:29888403, PMID:10577907, PMID:9811382, PMID:23243267, PMID:20513133, PMID:17517971, PMID:17517971, PMID:17517971 RGD:1599886, RGD:11041172, RGD:11041162, RGD:11040768, RGD:7364995, RGD:7364995, RGD:7364995 NCBI chr13:56,979,155...57,080,540
Ensembl chr13:56,978,607...57,080,622
JBrowse link
G Cfhr1 complement factor H-related 1 susceptibility ISO ClinVar Annotator: match by OMIM:235400
ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to
DNA:deletion
ClinVar
CTD
OMIM
PMID:16998489 PMID:17367211 PMID:18006700 PMID:20843825 PMID:25741868, PMID:23243267 RGD:11041162 NCBI chr13:56,862,666...56,877,650
Ensembl chr13:56,836,994...56,877,650
JBrowse link
G Cfi complement factor I susceptibility ISO ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5
ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:612923
ClinVar
CTD
OMIM
PMID:15173250 PMID:16621965 PMID:18557729 PMID:18825487 PMID:19877009 PMID:20016463 PMID:20106822 PMID:20203157 PMID:20513133 PMID:20595690 PMID:22710145 PMID:23307876 PMID:23314101 PMID:23431077 PMID:23685748 PMID:23787556 PMID:24033266 PMID:24034049 PMID:24036952 PMID:24161037 PMID:25037630 PMID:25135378 PMID:25741868 PMID:25758434 PMID:27268256 PMID:28282489 PMID:28492532, PMID:15173250 RGD:6906889 NCBI chr 2:235,264,149...235,305,779
Ensembl chr 2:235,264,219...235,305,781
JBrowse link
G Col4a5 collagen type IV alpha 5 chain ISO ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2 ClinVar PMID:7599631 PMID:7695699 PMID:8218237 PMID:8651296 PMID:8940267 PMID:9848783 PMID:10094548 PMID:19344236 PMID:23720012 PMID:25741868 PMID:27627812 PMID:28492532 PMID:30577881 NCBI chr  X:112,769,595...112,983,720
Ensembl chr  X:112,769,645...112,983,685
JBrowse link
G Dgke diacylglycerol kinase epsilon ISO ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome
ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 7
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: atypical hemolytic-uremic syndrome
ClinVar
CTD
PMID:23542698 PMID:24511134 PMID:24747643 PMID:25741868 PMID:29590070 NCBI chr10:76,375,981...76,408,224
Ensembl chr10:76,386,471...76,407,989
JBrowse link
G Mmachc metabolism of cobalamin associated C ISO ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome ClinVar PMID:16311595 PMID:16714133 PMID:17768669 PMID:17853453 PMID:18164228 PMID:19370762 PMID:19760748 PMID:20549364 PMID:20610126 PMID:20631720 PMID:23757202 PMID:23837176 PMID:24033266 PMID:24126030 PMID:24599607 PMID:25687216 PMID:25741868 PMID:25894566 PMID:28492532 PMID:29396438 NCBI chr 5:135,555,587...135,561,723
Ensembl chr 5:135,555,565...135,561,914
JBrowse link
G Plg plasminogen ISO ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome ClinVar NCBI chr 1:48,521,828...48,563,895
Ensembl chr 1:48,521,772...48,563,776
JBrowse link
G RGD1564614 similar to complement factor H-related protein susceptibility ISO ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to
ClinVar
CTD
OMIM
PMID:16998489 PMID:17367211 PMID:18006700 PMID:20843825 NCBI chr13:56,889,669...56,958,549
Ensembl chr13:56,889,669...56,958,561
JBrowse link
G Smarcal1 Swi/SNF related matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 ISO ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome ClinVar PMID:28492532 PMID:28844315 NCBI chr 9:79,943,775...79,990,230
Ensembl chr 9:79,944,132...79,990,229
JBrowse link
G Thbd thrombomodulin susceptibility
no_association
severity
ISO ClinVar Annotator: match by OMIM:612926
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 6
ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome
CTD Direct Evidence: marker/mechanism
DNA:SNPs:5' utr, 3' utr:multiple
DNA:missense mutations:CDS:multiple
ClinVar
OMIM
CTD
PMID:7811989 PMID:10460600 PMID:11986219 PMID:12139752 PMID:17677000 PMID:19625716 PMID:23332921 PMID:24933457 PMID:25135378 PMID:25741868 PMID:28492532, PMID:19625716, PMID:19625716, PMID:20595690 RGD:11038691, RGD:11038691, RGD:11038684 NCBI chr 3:142,748,673...142,752,325
Ensembl chr 3:142,748,674...142,752,325
JBrowse link
autoimmune thrombocytopenic purpura term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamts13 ADAM metallopeptidase with thrombospondin type 1 motif, 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19260037 NCBI chr 3:5,519,921...5,558,390
Ensembl chr 3:5,519,990...5,558,166
JBrowse link
G Alb albumin ISO RGD PMID:6683982 RGD:11036083 NCBI chr14:19,176,275...19,191,793
Ensembl chr14:19,176,277...19,191,863
JBrowse link
G Cd40 CD40 molecule ISO protein:increased expression:peripheral blood, B lymphocyte (human) RGD PMID:17654056 RGD:11344977 NCBI chr 3:161,519,789...161,534,943
Ensembl chr 3:161,519,743...161,534,704
JBrowse link
G Cd40lg CD40 ligand treatment ISO protein:increased expression:peripheral blood, T lymphocyte (human)
protein:decreased expression:serum (mouse)
RGD PMID:17654056, PMID:22537155, PMID:18341638, PMID:16188945 RGD:11344977, RGD:11352267, RGD:11352237, RGD:11344980 NCBI chr  X:159,703,703...159,714,886
Ensembl chr  X:159,703,578...159,716,562
JBrowse link
G Cd86 CD86 molecule treatment ISO protein:increased expression:peripheral blood mononuclear cell (human) RGD PMID:19379594, PMID:20581660 RGD:11354966, RGD:11520785 NCBI chr11:67,060,305...67,117,990
Ensembl chr11:67,082,193...67,118,795
JBrowse link
G Dnmt3a DNA methyltransferase 3 alpha ISO mRNA:decreased expression:mononuclear cell RGD PMID:18683034 RGD:9588662 NCBI chr 6:28,205,375...28,346,052
Ensembl chr 6:28,235,695...28,340,577
JBrowse link
G Dnmt3b DNA methyltransferase 3 beta susceptibility ISO mRNA:decreased expression:mononuclear cell
DNA:SNP:promoter: -579G>T(human)
RGD PMID:18683034, PMID:23000068 RGD:9588662, RGD:9589094 NCBI chr 3:149,131,541...149,170,061
Ensembl chr 3:149,131,785...149,208,786
JBrowse link
G Fas Fas cell surface death receptor ISO protein:increased expression:serum: RGD PMID:10776692 RGD:11049162 NCBI chr 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790
JBrowse link
G Fcgr2a Fc fragment of IgG receptor IIa no_association
susceptibility
treatment
ISO DNA:SNP:cds:p.R131H (human) RGD PMID:20699442, PMID:23249566, PMID:22123287, PMID:21131591 RGD:11040883, RGD:11040990, RGD:11040989, RGD:11040933 NCBI chr13:91,146,878...91,163,691
Ensembl chr13:91,168,973...91,198,036
Ensembl chr13:91,168,973...91,198,036
JBrowse link
G Fcgr2b Fc fragment of IgG receptor IIb treatment
disease_progression
ISO DNA:SNP: :p.I232T (human) RGD PMID:21131591, PMID:21045192, PMID:22257295, PMID:15566359, PMID:19549396 RGD:11040933, RGD:11344955, RGD:11344931, RGD:11344928, RGD:11344927 NCBI chr13:89,329,298...89,343,916
Ensembl chr13:89,327,794...89,433,815
JBrowse link
G Fcgr3a Fc fragment of IgG receptor IIIa treatment
susceptibility
ISO DNA:SNP:cds:p.V158F(human)
DNA:SNP:exon:p.F158V (rs396991) (human)
RGD PMID:11380443, PMID:23484707, PMID:22123287, PMID:15479722 RGD:11040776, RGD:11352255, RGD:11040989, RGD:11344926 NCBI chr13:89,385,775...89,396,047
Ensembl chr13:89,385,859...89,396,051
JBrowse link
G Gp1ba glycoprotein Ib platelet subunit alpha ISO RGD PMID:16861348 RGD:10450841 NCBI chr10:57,260,680...57,263,546
Ensembl chr10:57,260,680...57,263,546
JBrowse link
G Il10 interleukin 10 disease_progression ISO DNA:SNP:promoter:-627C>A (human)
DNA:SNPs, haplotypes:promoter:-1082A>G, -819C>T, -592C>A (human)
RGD PMID:25051072, PMID:22677268 RGD:11041894, RGD:11046267 NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
JBrowse link
G Il18 interleukin 18 ISO protein:increased expression:plasma: RGD PMID:24801815 RGD:11073600 NCBI chr 8:55,009,666...55,016,286
Ensembl chr 8:54,993,859...55,016,299
JBrowse link
G Il1a interleukin 1 alpha ISO DNA:SNP:promoter:-899C>T (human) RGD PMID:21591983 RGD:11051966 NCBI chr 3:121,824,712...121,836,122
Ensembl chr 3:121,825,412...121,836,086
JBrowse link
G Il1rn interleukin 1 receptor antagonist susceptibility ISO DNA:repeats:: RGD PMID:20626741 RGD:11528541 NCBI chr 3:1,449,778...1,468,624
Ensembl chr 3:1,452,644...1,468,614
JBrowse link
G Il2 interleukin 2 susceptibility ISO DNA:polymorphism::-330T>G(human) RGD PMID:20626741 RGD:11528541 NCBI chr 2:123,847,150...123,851,854
Ensembl chr 2:123,847,150...123,851,854
JBrowse link
G Il4 interleukin 4 disease_progression ISO DNA:repeat:intron RGD PMID:25051072 RGD:11041894 NCBI chr10:38,963,979...38,969,531
Ensembl chr10:38,963,979...38,969,531
JBrowse link
G Itgb3 integrin subunit beta 3 ISO RGD PMID:10936026, PMID:24258817 RGD:10755473, RGD:10755475 NCBI chr10:92,667,869...92,783,413
Ensembl chr10:92,667,869...92,783,410
JBrowse link
G Mir130a microRNA 130a ISO RNA:decreased expression:PBMC RGD PMID:24801815 RGD:11073600 NCBI chr 3:72,141,037...72,141,124
Ensembl chr 3:72,141,037...72,141,124
JBrowse link
G Mir3581 microRNA 3581 treatment ISO RGD PMID:23360331 RGD:10755694 NCBI chr 6:133,893,418...133,893,497
Ensembl chr 6:133,893,418...133,893,497
JBrowse link
G Mir409 microRNA 409 treatment ISO RGD PMID:23360331 RGD:10755694 NCBI chr 6:133,893,419...133,893,495 JBrowse link
G Plat plasminogen activator, tissue type ISO protein:increased expression:plasma (human) RGD PMID:2129164 RGD:11541072 NCBI chr16:74,098,263...74,122,897
Ensembl chr16:74,098,260...74,122,889
JBrowse link
G Ptpn22 protein tyrosine phosphatase, non-receptor type 22 no_association ISO DNA: snp: cds: C1858T
DNA:snp:cds:c.1858C>T (rs2476601) (human)
RGD PMID:21597364, PMID:27309885 RGD:6484673, RGD:11535019 NCBI chr 2:206,342,066...206,390,348
Ensembl chr 2:206,342,066...206,390,348
JBrowse link
G RT1-Bb RT1 class II, locus Bb treatment ISO DNA:polymorphisms:cds:HLA-DQB1*0401 (human) RGD PMID:10435723 RGD:11041758 NCBI chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
JBrowse link
G RT1-Db1 RT1 class II, locus Db1 treatment ISO DNA:polymorphisms:cds:HLA-DRB1*0901, HLA-DRB1*0410 (human) RGD PMID:10435723 RGD:11041758 NCBI chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
JBrowse link
G Socs1 suppressor of cytokine signaling 1 ISO ClinVar Annotator: match by term: Autoimmune thrombocytopenia ClinVar NCBI chr10:4,956,795...4,958,472
Ensembl chr10:4,957,326...4,958,461
JBrowse link
G Tgfb1 transforming growth factor, beta 1 disease_progression ISO mRNA:increased expression: :
protein:decreased expression:plasma:
RGD PMID:11886393, PMID:24763013, PMID:24801815 RGD:11073598, RGD:11073603, RGD:11073600 NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
JBrowse link
autosomal dominant macrothrombocytopenia TUBB1-related term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tubb1 tubulin, beta 1 class VI ISO ClinVar Annotator: match by term: Autosomal dominant macrothrombocytopenia TUBB1-related
ClinVar Annotator: match by term: MACROTHROMBOCYTOPENIA, AUTOSOMAL DOMINANT, TUBB1-RELATED
OMIM
ClinVar
PMID:18849486 PMID:24777453 PMID:25741868 PMID:31064749 NCBI chr 3:172,550,252...172,558,089
Ensembl chr 3:172,550,258...172,558,114
JBrowse link
autosomal dominant nonsyndromic deafness 17 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myh9 myosin, heavy chain 9 ISO ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 17
ClinVar Annotator: match by term: Deafness, autosomal dominant 17
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 17
OMIM
ClinVar
PMID:9390828 PMID:11023810 PMID:11590545 PMID:11752022 PMID:12533692 PMID:16969870 PMID:17146397 PMID:18059020 PMID:18676005 PMID:19557653 PMID:20588287 PMID:22123909 PMID:22477015 PMID:22995991 PMID:23144074 PMID:23349334 PMID:23409987 PMID:23804846 PMID:24033266 PMID:24130771 PMID:24186861 PMID:24643058 PMID:24890873 PMID:25077172 PMID:25505834 PMID:25741868 PMID:25752595 PMID:25949529 PMID:26226608 PMID:26346198 PMID:26467025 PMID:26969326 PMID:27068579 PMID:28059092 PMID:28492532 PMID:29090586 PMID:30720677 PMID:31064749 NCBI chr 7:118,740,005...118,792,507
Ensembl chr 7:118,741,110...118,792,625
JBrowse link
autosomal hemophilia A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F8 coagulation factor VIII ISO ClinVar Annotator: match by term: Mild hemophilia A ClinVar PMID:29357978 NCBI chr18:367,862...399,242
Ensembl chr18:367,862...399,242
JBrowse link
Bernard-Soulier syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gp1ba glycoprotein Ib platelet subunit alpha treatment ISO ClinVar Annotator: match by term: Bernard Soulier syndrome
DNA:missense mutation, nonsense mutation: :p.C209S (715T>A) (human)
DNA:missense mutation: :p.N45S (1829A>G) (human)
DNA:missense mutation, deletion: :p.L129P, 4630_4631del (human)
DNA:missense mutation: :p.L129P (human)
DNA:missense mutation: :p.N126D (c.376A>G) (human)
DNA:missense mutation: :p.V262G (c.785T>G) (human)
OMIM
ClinVar
PMID:25741868, PMID:11776304, PMID:19404517, PMID:22044935, PMID:10089893, PMID:10996832, PMID:21173099, PMID:23995613 RGD:10450843, RGD:10450834, RGD:10450833, RGD:10450819, RGD:10450809, RGD:10450798, RGD:10450796 NCBI chr10:57,260,680...57,263,546
Ensembl chr10:57,260,680...57,263,546
JBrowse link
G Gp1bb glycoprotein Ib platelet subunit beta severity ISO ClinVar Annotator: match by term: Bernard Soulier syndrome
ClinVar Annotator: match by term: Bernard-Soulier syndrome
DNA:missense mutation:exon:c.281A>G(p.D94G)(human)
DNA:deletion:cds:
DNA:mutations:cds:p.Y88C,A108P(human)
OMIM
ClinVar
PMID:10887115 PMID:25741868 PMID:31064749 PMID:32581362, PMID:28131619, PMID:12945881, PMID:17095718, PMID:9116284 RGD:13464128, RGD:11040530, RGD:11040529, RGD:11040528 NCBI chr11:86,520,992...86,522,169
Ensembl chr11:86,520,992...86,522,169
JBrowse link
G Gp9 glycoprotein IX (platelet) severity ISO ClinVar Annotator: match by term: Bernard Soulier syndrome
ClinVar Annotator: match by term: Von Willebrand factor receptor deficiency
DNA:missense mutation:cds:c.182A>G(p.N61S)(human)
ClinVar Annotator: match by OMIM:231200
DNA:mutation:cds:p.C73Y(human)
OMIM
ClinVar
PMID:8049428 PMID:8481514 PMID:11167791 PMID:14510954 PMID:21173099 PMID:21699652 PMID:25370924 PMID:25741868 PMID:28131619 PMID:28492532 PMID:28765788 PMID:31064749 PMID:32581362, PMID:28131619, PMID:8972003 RGD:13464128, RGD:11040531 NCBI chr 4:119,680,671...119,682,006
Ensembl chr 4:119,680,112...119,682,547
JBrowse link
G Vwf von Willebrand factor ISO RGD PMID:14717981 RGD:1580643 NCBI chr 4:158,085,059...158,219,525
Ensembl chr 4:158,088,505...158,219,523
JBrowse link
Bernard-Soulier syndrome type A2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gp1ba glycoprotein Ib platelet subunit alpha ISO ClinVar Annotator: match by term: Bernard-Soulier syndrome, type A2, autosomal dominant
ClinVar Annotator: match by OMIM:153670
OMIM
ClinVar
PMID:1730088 PMID:7690774 PMID:11222377 PMID:25741868 PMID:31064749 NCBI chr10:57,260,680...57,263,546
Ensembl chr10:57,260,680...57,263,546
JBrowse link
Bernard-Soulier Syndrome, Autosomal Dominant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gp1ba glycoprotein Ib platelet subunit alpha ISO DNA:missense mutation: :p.A156V (515C>T) (human)
DNA:missense mutation: :p.N41H (169A>C) (human)
RGD PMID:11222377, PMID:18815197 RGD:10450832, RGD:10450842 NCBI chr10:57,260,680...57,263,546
Ensembl chr10:57,260,680...57,263,546
JBrowse link
Bernard-Soulier Syndrome, Type A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gp1ba glycoprotein Ib platelet subunit alpha ISO ClinVar Annotator: match by term: Bernard-Soulier syndrome, type A1 ClinVar PMID:1901273 PMID:2308962 PMID:7690774 PMID:9233564 PMID:11222377 PMID:25741868 NCBI chr10:57,260,680...57,263,546
Ensembl chr10:57,260,680...57,263,546
JBrowse link
Bernard-Soulier Syndrome, Type B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gp1bb glycoprotein Ib platelet subunit beta ISO ClinVar Annotator: match by term: Macrothrombocytopenia, familial, Bernard-Soulier type
ClinVar Annotator: match by term: Bernard-Soulier syndrome, type B
ClinVar PMID:7633430 PMID:8703016 PMID:9116284 PMID:10887115 PMID:18414213 PMID:25741868 PMID:31064749 PMID:32581362 NCBI chr11:86,520,992...86,522,169
Ensembl chr11:86,520,992...86,522,169
JBrowse link
G Gp9 glycoprotein IX (platelet) ISO ClinVar Annotator: match by term: Macrothrombocytopenia, familial Bernard-Soulier type ClinVar PMID:8049428 PMID:8481514 PMID:14510954 PMID:25370924 PMID:25741868 PMID:28131619 PMID:28492532 PMID:28765788 PMID:31064749 NCBI chr 4:119,680,671...119,682,006
Ensembl chr 4:119,680,112...119,682,547
JBrowse link
Bernard-Soulier Syndrome, Type C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gp9 glycoprotein IX (platelet) ISO DNA:missense mutations:cds:p.D21G, p.N45S (human)
ClinVar Annotator: match by term: Bernard-Soulier syndrome type C
ClinVar PMID:8049428 PMID:8481514 PMID:9163595 PMID:9886312 PMID:11167791 PMID:12100158 PMID:13442197 PMID:14510954 PMID:21173099 PMID:21699652 PMID:25370924 PMID:25741868 PMID:28131619 PMID:28395735 PMID:28492532 PMID:28765788 PMID:29636940 PMID:31064749 PMID:32581362, PMID:8481514 RGD:1599275 NCBI chr 4:119,680,671...119,682,006
Ensembl chr 4:119,680,112...119,682,547
JBrowse link
blood platelet disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankrd26 ankyrin repeat domain 26 ISO ClinVar Annotator: match by term: Platelet disorder ClinVar PMID:23677566 PMID:25741868 PMID:31064749 NCBI chr 4:150,548,656...150,616,928
Ensembl chr 4:150,547,467...150,616,895
JBrowse link
G Cd36 CD36 molecule ISO CD36 deficiency, OMIM:608404, DNA:point mutation, frameshift mutation
ClinVar Annotator: match by term: Platelet disorder
ClinVar PMID:7533783 PMID:7686693 PMID:10946357 PMID:11019968 PMID:11718687 PMID:11950861 PMID:15282206 PMID:24033266 PMID:24917573 PMID:24960640 PMID:25798958, PMID:11950861 RGD:1600629 NCBI chr 4:14,150,309...14,191,498
Ensembl chr 4:14,001,761...14,249,749
JBrowse link
G Fermt3 FERM domain containing kindlin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18278053 NCBI chr 1:222,254,183...222,272,775
Ensembl chr 1:222,254,184...222,272,285
JBrowse link
G Pla2g4a phospholipase A2 group IVA ISO CTD Direct Evidence: marker/mechanism CTD PMID:18451993 NCBI chr13:67,062,252...67,206,688
Ensembl chr13:66,988,937...67,206,693
JBrowse link
G Runx1 RUNX family transcription factor 1 ISO ClinVar Annotator: match by term: Platelet disorder ClinVar PMID:10508512 PMID:11830488 PMID:23848403 PMID:25741868 PMID:25840971 PMID:26175287 PMID:28960434 NCBI chr11:32,765,147...33,003,061
Ensembl chr11:32,769,165...33,003,021
JBrowse link
G Stxbp2 syntaxin binding protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30696774 NCBI chr12:2,180,101...2,191,863
Ensembl chr12:2,180,150...2,191,175
JBrowse link
G Tbxa2r thromboxane A2 receptor ISO DNA:mutation:cds:p.R60L(human)
CTD Direct Evidence: marker/mechanism
CTD PMID:7929844 PMID:19828703, PMID:7929844 RGD:1578439 NCBI chr 7:11,253,153...11,259,233
Ensembl chr 7:11,253,180...11,257,977
JBrowse link
brittle cornea syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chst14 carbohydrate sulfotransferase 14 ISO ClinVar Annotator: match by term: Brittle cornea syndrome 1
ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, TYPE VIB
ClinVar PMID:9084938 PMID:10766984 PMID:11370633 PMID:12508273 PMID:16158441 PMID:20004762 PMID:20503305 PMID:20533528 PMID:20842734 PMID:21744491 PMID:25741868 PMID:26373698 PMID:26872206 PMID:26925854 PMID:28238810 NCBI chr 3:110,734,105...110,736,162
Ensembl chr 3:110,734,105...110,736,162
JBrowse link
G Prdm5 PR/SET domain 5 ISO ClinVar Annotator: match by term: BRITTLE CORNEA SYNDROME 1
ClinVar Annotator: match by term: Corneal fragility keratoglobus, blue sclerae AND joint hypermobility
ClinVar PMID:28492532 NCBI chr 4:96,659,062...96,810,816
Ensembl chr 4:96,659,084...96,812,263
JBrowse link
G Zfp469 zinc finger protein 469 ISO ClinVar Annotator: match by term: Brittle cornea syndrome 1
ClinVar Annotator: match by OMIM:229200
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:5755738 PMID:7387950 PMID:18452888 PMID:19661234 PMID:20938016 PMID:25741868 PMID:33739556 NCBI chr19:54,843,864...55,083,935 JBrowse link
brittle cornea syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prdm5 PR/SET domain 5 ISO ClinVar Annotator: match by term: Brittle cornea syndrome 2
ClinVar Annotator: match by OMIM:614170
ClinVar Annotator: match by This custom term has been created by RGD curators.
OMIM
ClinVar
PMID:8458232 PMID:21664999 PMID:22122778 PMID:25741868 PMID:26395458 PMID:28492532 PMID:33739556 NCBI chr 4:96,659,062...96,810,816
Ensembl chr 4:96,659,084...96,812,263
JBrowse link
cavernous hemangioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccm2 CCM2 scaffold protein ISO ClinVar Annotator: match by term: Cavernous hemangioma ClinVar PMID:25741868 NCBI chr14:86,812,728...86,859,408
Ensembl chr14:86,813,082...86,859,406
JBrowse link
G Krit1 KRIT1, ankyrin repeat containing ISO ClinVar Annotator: match by term: Cavernous hemangioma ClinVar PMID:10545614 PMID:23595507 PMID:24466005 PMID:25741868 PMID:28492532 NCBI chr 4:27,438,609...27,473,150
Ensembl chr 4:27,438,609...27,473,150
JBrowse link
cerebral cavernous malformation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankib1 ankyrin repeat and IBR domain containing 1 ISO ClinVar Annotator: match by term: Cerebral cavernous malformation ClinVar PMID:25741868 NCBI chr 4:27,473,477...27,597,206
Ensembl chr 4:27,473,477...27,597,206
JBrowse link
G Ccm2 CCM2 scaffold protein ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cerebral cavernous malformation
CTD
ClinVar
PMID:18154020 PMID:25525273 PMID:25741868 PMID:28492532 NCBI chr14:86,812,728...86,859,408
Ensembl chr14:86,813,082...86,859,406
JBrowse link
G Flt1 Fms related receptor tyrosine kinase 1 ISO protein:increased expression:endothelial cell: RGD PMID:11220380 RGD:8551824 NCBI chr12:9,033,993...9,205,886
Ensembl chr12:9,034,308...9,205,905
JBrowse link
G Kdr kinase insert domain receptor ISO protein:increased expression:endothelial cell: RGD PMID:11220380 RGD:8551824 NCBI chr14:34,727,677...34,787,127
Ensembl chr14:34,727,623...34,787,183
JBrowse link
G Krit1 KRIT1, ankyrin repeat containing susceptibility ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cerebral cavernous malformation
ClinVar Annotator: match by OMIM:116860
CTD
ClinVar
PMID:3393196 PMID:7898703 PMID:9065560 PMID:10508515 PMID:10545614 PMID:10814716 PMID:11161805 PMID:11222804 PMID:11914398 PMID:11959162 PMID:12404106 PMID:12810002 PMID:12854741 PMID:15079030 PMID:17187287 PMID:17211633 PMID:18383588 PMID:19088123 PMID:19454328 PMID:20419355 PMID:20798775 PMID:21029238 PMID:23584803 PMID:23595507 PMID:24401931 PMID:24466005 PMID:24689081 PMID:24721395 PMID:25525273 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28645800 PMID:28745674 PMID:30161288, PMID:14755725, PMID:15079030 RGD:1358458, RGD:1598379 NCBI chr 4:27,438,609...27,473,150
Ensembl chr 4:27,438,609...27,473,150
JBrowse link
G Pdcd10 programmed cell death 10 ISO ClinVar Annotator: match by term: Cerebral cavernous malformation ClinVar PMID:28492532 NCBI chr 2:173,966,701...174,012,730
Ensembl chr 2:173,967,080...174,012,676
JBrowse link
G Pon1 paraoxonase 1 susceptibility ISO DNA:missense mutations:cds:p.L55M, p.Q192R (human) RGD PMID:26122242 RGD:11552573 NCBI chr 4:30,249,749...30,276,297
Ensembl chr 4:30,249,742...30,276,372
JBrowse link
G Pten phosphatase and tensin homolog ISO protein:decreased expression:brain (human) RGD PMID:19061355 RGD:12859036 NCBI chr 1:251,421,814...251,487,634
Ensembl chr 1:251,421,596...251,487,832
JBrowse link
G Serpini1 serpin family I member 1 ISO ClinVar Annotator: match by term: Cerebral cavernous malformation ClinVar NCBI chr 2:174,013,058...174,111,693
Ensembl chr 2:174,013,288...174,111,752
JBrowse link
cerebral cavernous malformation 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krit1 KRIT1, ankyrin repeat containing ISO ClinVar Annotator: match by term: Cerebral cavernous malformations 1 ClinVar
OMIM
PMID:3393196 PMID:7898703 PMID:9065560 PMID:10508515 PMID:10545614 PMID:10814716 PMID:11222804 PMID:11310633 PMID:11914398 PMID:11941540 PMID:12404106 PMID:12854741 PMID:17562932 PMID:19088123 PMID:19454328 PMID:24401931 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 4:27,438,609...27,473,150
Ensembl chr 4:27,438,609...27,473,150
JBrowse link
cerebral cavernous malformation 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccm2 CCM2 scaffold protein ISO ClinVar Annotator: match by term: Cerebral cavernous malformations 2 OMIM
ClinVar
PMID:2468908 PMID:14624391 PMID:14740320 PMID:15122722 PMID:17160895 PMID:18060436 PMID:18300272 PMID:19088123 PMID:19088124 PMID:20419355 PMID:23595507 PMID:24466005 PMID:25525273 PMID:25741868 PMID:26467025 PMID:27153162 PMID:27561926 PMID:27792856 PMID:28492532 PMID:28655553 PMID:32860008 NCBI chr14:86,812,728...86,859,408
Ensembl chr14:86,813,082...86,859,406
JBrowse link
G Nacad NAC alpha domain containing ISO ClinVar Annotator: match by term: Cerebral cavernous malformations 2 ClinVar PMID:17160895 PMID:28492532 NCBI chr14:86,860,607...86,868,605
Ensembl chr14:86,860,608...86,868,598
JBrowse link
cerebral cavernous malformation 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pdcd10 programmed cell death 10 ISO ClinVar Annotator: match by term: Cerebral cavernous malformations 3 OMIM
ClinVar
PMID:15543491 PMID:18035376 PMID:18060436 PMID:20623299 PMID:23485406 PMID:23595507 PMID:23801932 PMID:25354366 PMID:25741868 PMID:26896283 PMID:28492532 PMID:30161288 NCBI chr 2:173,966,701...174,012,730
Ensembl chr 2:173,967,080...174,012,676
JBrowse link
G Serpini1 serpin family I member 1 ISO ClinVar Annotator: match by term: Cerebral cavernous malformations 3 ClinVar PMID:18060436 PMID:20623299 PMID:28492532 NCBI chr 2:174,013,058...174,111,693
Ensembl chr 2:174,013,288...174,111,752
JBrowse link
Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col1a1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 1 OMIM
ClinVar
PMID:15728585 PMID:16407265 PMID:17206620 PMID:23692737 PMID:25944380 PMID:28492532 NCBI chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789
JBrowse link
Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col1a2 collagen type I alpha 2 chain ISO ClinVar Annotator: match by term: COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 2 OMIM
ClinVar
PMID:10982177 PMID:11288717 PMID:23692737 PMID:25944380 NCBI chr 4:31,534,225...31,569,152
Ensembl chr 4:31,534,225...31,569,151
JBrowse link
congenital afibrinogenemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb11 ATP binding cassette subfamily B member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22120137 NCBI chr 3:55,480,024...55,587,946
Ensembl chr 3:55,480,024...55,587,946
JBrowse link
G Cfi complement factor I ISO ClinVar Annotator: match by term: Afibrinogenemia
ClinVar Annotator: match by term: Afibrinogenemia congenital
ClinVar PMID:849647 PMID:8613545 PMID:12562389 PMID:17018561 PMID:22710145 PMID:25741868 PMID:25988862 NCBI chr 2:235,264,149...235,305,779
Ensembl chr 2:235,264,219...235,305,781
JBrowse link
G Fga fibrinogen alpha chain ISO ClinVar Annotator: match by term: Afibrinogenemia, congenital
ClinVar Annotator: match by term: Hypofibrinogenemia
ClinVar Annotator: match by OMIM:202400
CTD Direct Evidence: marker/mechanism
DNA:deletion:cds: (human)
ClinVar
CTD
OMIM
PMID:1391954 PMID:2738154 PMID:3345340 PMID:3590111 PMID:3618591 PMID:4052020 PMID:6191801 PMID:7298640 PMID:10602365 PMID:10891444 PMID:10910940 PMID:12358944 PMID:12871326 PMID:14615374 PMID:16362348 PMID:19420351 PMID:25741868 PMID:27164460 PMID:28492532 PMID:31064749, PMID:15795544, PMID:10602365 RGD:5688762, RGD:11040559 NCBI chr 2:181,997,562...182,013,726
Ensembl chr 2:182,006,242...182,013,763
JBrowse link
G Fgb fibrinogen beta chain ISO ClinVar Annotator: match by term: Afibrinogenemia, congenital
ClinVar Annotator: match by term: Hypofibrinogenemia, congenital
ClinVar Annotator: match by OMIM:202400
ClinVar
OMIM
PMID:1565641 PMID:3194892 PMID:10666208 PMID:10688828 PMID:11468164 PMID:12161363 PMID:12393540 PMID:12573244 PMID:15070683 PMID:15795540 PMID:19420351 PMID:21713329 PMID:22273812 PMID:24033266 PMID:25592583 PMID:25741868 PMID:27164460 PMID:28492532 PMID:31064749, PMID:12393540 RGD:737709 NCBI chr 2:182,028,044...182,035,026
Ensembl chr 2:182,027,115...182,038,178
JBrowse link
G Fgg fibrinogen gamma chain ISO DNA:snp:intron:IVS3+5G>A (human)
ClinVar Annotator: match by term: Afibrinogenemia, congenital
ClinVar Annotator: match by term: Hypofibrinogenemia
ClinVar Annotator: match by OMIM:202400
DNA:nonsense mutation:exon:p.R134X (human)
ClinVar
OMIM
PMID:1471077 PMID:1733971 PMID:2512677 PMID:2617471 PMID:2971042 PMID:2976995 PMID:3337908 PMID:3563970 PMID:4002201 PMID:6654188 PMID:6886002 PMID:7635941 PMID:10688828 PMID:11001902 PMID:11001903 PMID:11019970 PMID:11435303 PMID:16144795 PMID:17854317 PMID:23560673 PMID:24033266 PMID:24556703 PMID:25320241 PMID:25741868 PMID:28492532 PMID:31064749, PMID:11001903, PMID:15284111 RGD:737710, RGD:11352676 NCBI chr 2:181,987,080...181,994,523
Ensembl chr 2:181,987,217...181,994,514
JBrowse link
congenital amegakaryocytic thrombocytopenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mpl MPL proto-oncogene, thrombopoietin receptor ISO ClinVar Annotator: match by term: Congenital amegakaryocytic thrombocytopenia
ClinVar Annotator: match by OMIM:604498
OMIM
ClinVar
PMID:8073287 PMID:10077649 PMID:10971406 PMID:11071383 PMID:11133753 PMID:11392330 PMID:11972523 PMID:15269348 PMID:15531462 PMID:16219544 PMID:16470591 PMID:16834459 PMID:16868251 PMID:17054430 PMID:17666371 PMID:18240171 PMID:18422784 PMID:19036112 PMID:19302922 PMID:20188141 PMID:21162090 PMID:21225925 PMID:21228398 PMID:21489838 PMID:21659346 PMID:22180433 PMID:22389068 PMID:23103231 PMID:23625800 PMID:24033266 PMID:24119002 PMID:24438083 PMID:24728327 PMID:25538044 PMID:25741868 PMID:26854587 PMID:27418648 PMID:27449473 PMID:28492532 PMID:28697167 PMID:28859041 PMID:29384262 PMID:31064749 PMID:32581362 PMID:32703794 NCBI chr 5:137,268,412...137,282,032
Ensembl chr 5:137,269,480...137,281,298
JBrowse link
congenital disorder of glycosylation Ix term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Stt3b STT3 oligosaccharyltransferase complex catalytic subunit B ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1x
ClinVar Annotator: match by OMIM:615597
OMIM
ClinVar
PMID:23842455 PMID:25741868 PMID:28492532 NCBI chr 8:123,303,910...123,370,729
Ensembl chr 8:123,293,057...123,371,257
JBrowse link
Congenital Dysfibrinogenemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fga fibrinogen alpha chain ISO ClinVar Annotator: match by term: FIBRINOGEN PETOSKEY
ClinVar Annotator: match by term: FIBRINOGEN AARHUS 1
ClinVar Annotator: match by term: Dysfibrinogenemia
OMIM
ClinVar
PMID:1912564 PMID:2738154 PMID:3345340 PMID:3590111 PMID:3618591 PMID:3667568 PMID:4052020 PMID:4082078 PMID:6191801 PMID:6667926 PMID:7298640 PMID:8140431 PMID:11435303 PMID:11460527 PMID:16846481 PMID:25741868 PMID:31064749 NCBI chr 2:181,997,562...182,013,726
Ensembl chr 2:182,006,242...182,013,763
JBrowse link
G Fgb fibrinogen beta chain ISO DNA:mutation:missense mutation:g.g.9692A>G(human)
ClinVar Annotator: match by term: Dysfibrinogenemia, congenital
DNA:nonsense mutation:cds:p.w467X(human)
ClinVar
OMIM
PMID:25741868, PMID:24711018, PMID:12511408 RGD:10450765, RGD:10450766 NCBI chr 2:182,028,044...182,035,026
Ensembl chr 2:182,027,115...182,038,178
JBrowse link
G Fgg fibrinogen gamma chain ISO DNA:deletion:intron:IVS9+1delG (human)
DNA:missense mutation:exon:p.N308T (c.1001A>C) (human)
OMIM PMID:25551304, PMID:24482809 RGD:11352672, RGD:11352691 NCBI chr 2:181,987,080...181,994,523
Ensembl chr 2:181,987,217...181,994,514
JBrowse link
Congenital Hypodysfibrinogenemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fga fibrinogen alpha chain ISO ClinVar Annotator: match by term: Hypodysfibrinogenemia, congenital ClinVar PMID:10891444 PMID:14615374 PMID:25741868 PMID:31064749 NCBI chr 2:181,997,562...182,013,726
Ensembl chr 2:182,006,242...182,013,763
JBrowse link
G Fgb fibrinogen beta chain ISO ClinVar Annotator: match by term: FIBRINOGEN NIJMEGEN
ClinVar Annotator: match by term: FIBRINOGEN BALTIMORE 2
ClinVar Annotator: match by term: FIBRINOGEN LONGMONT
ClinVar PMID:1565641 PMID:3194892 PMID:11468164 PMID:25741868 PMID:31064749 NCBI chr 2:182,028,044...182,035,026
Ensembl chr 2:182,027,115...182,038,178
JBrowse link
G Fgg fibrinogen gamma chain ISO ClinVar Annotator: match by term: Hypodysfibrinogenemia
ClinVar Annotator: match by term: FIBRINOGEN HAIFA 1
ClinVar Annotator: match by term: FIBRINOGEN TOKYO 2
DNA:frameshift mutation: :c.554delA (human)
DNA:missense mutations: :p.D316N, p.G366S (human)
DNA:missense mutation: :p.S313N (7590G>A) (human)
DNA:missense mutations:exon:p.W208L (g.5792G>T), p.K232T (g.5864A>C) (human)
DNA:missense mutation:exon:p.T277R (7482G>C) (human)
DNA:missense mutation:exon:p.A341D (human
DNA:missense mutation:exon:p.R375W (human)
ClinVar PMID:1733971 PMID:2512677 PMID:2617471 PMID:2971042 PMID:2976995 PMID:3337908 PMID:3563970 PMID:4002201 PMID:6654188 PMID:6886002 PMID:7635941 PMID:11344575 PMID:15632207 PMID:25741868 PMID:31064749, PMID:23560673, PMID:26039544, PMID:16607083, PMID:24914742, PMID:23492915, PMID:16959688, PMID:12198657 RGD:11352694, RGD:11352682, RGD:11352681, RGD:11352680, RGD:11352678, RGD:11352675, RGD:11352674 NCBI chr 2:181,987,080...181,994,523
Ensembl chr 2:181,987,217...181,994,514
JBrowse link
Congenital Prothrombin Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F2 coagulation factor II ISO ClinVar Annotator: match by term: Prothrombin deficiency, congenital
ClinVar Annotator: match by term: Prolonged prothrombin time
ClinVar Annotator: match by term: Hereditary factor II deficiency disease
DNA:deletion, missense mutations:cds:
ClinVar Annotator: match by null
ClinVar Annotator: match by OMIM:613679
OMIM
ClinVar
PMID:444582 PMID:625142 PMID:1349838 PMID:1421398 PMID:1557383 PMID:2222810 PMID:2429850 PMID:2719946 PMID:3242619 PMID:3567158 PMID:3771562 PMID:3801671 PMID:6085205 PMID:6305407 PMID:6405779 PMID:7740448 PMID:8696333 PMID:8896550 PMID:8916933 PMID:9106528 PMID:9292507 PMID:9462220 PMID:9493607 PMID:9531249 PMID:9569177 PMID:9694698 PMID:9869612 PMID:10027711 PMID:10233438 PMID:10233439 PMID:10336270 PMID:10348710 PMID:10348711 PMID:10348712 PMID:10406905 PMID:10477778 PMID:10544935 PMID:10651742 PMID:11154146 PMID:11358905 PMID:11443298 PMID:11506076 PMID:11796466 PMID:11874997 PMID:11904676 PMID:12149217 PMID:13217497 PMID:13228032 PMID:14489469 PMID:15059842 PMID:15534175 PMID:16487178 PMID:16493002 PMID:19159930 PMID:19289024 PMID:19531787 PMID:19554541 PMID:19560233 PMID:19598065 PMID:19652888 PMID:20301327 PMID:21243428 PMID:21349849 PMID:23429074 PMID:24033266 PMID:25741868 PMID:27031503 PMID:28492532 PMID:31064749, PMID:11154146 RGD:11565075 NCBI chr 3:80,529,468...80,542,993
Ensembl chr 3:80,529,428...80,543,031
JBrowse link
cryoglobulinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb1a ATP binding cassette subfamily B member 1A susceptibility ISO associated with hepatitis C;DNA:SNP: :3435C>T(human) RGD PMID:28453396 RGD:14700902 NCBI chr 4:22,339,829...22,517,642
Ensembl chr 4:22,133,521...22,425,515
JBrowse link
G Cd86 CD86 molecule ISO associated with Hepatitis C, Chronic;protein:increased expression:peripheral blood, B cell (human) RGD PMID:23840845 RGD:11354974 NCBI chr11:67,060,305...67,117,990
Ensembl chr11:67,082,193...67,118,795
JBrowse link
G Cxcl10 C-X-C motif chemokine ligand 10 ISO associated with hepatitis C; protein:increased expression:serum RGD PMID:18775023 RGD:27095893 NCBI chr14:17,210,733...17,212,930
Ensembl chr14:17,210,733...17,212,930
JBrowse link
G Ifnl3 interferon, lambda 3 susceptibility
severity
ISO associated with Hepatitis C, Chronic;DNA:SNP:enhancer: (rs12979860) (human) RGD PMID:24293567, PMID:24293567 RGD:11528546, RGD:11528546 NCBI chr 1:85,236,243...85,237,775
Ensembl chr 1:85,236,243...85,237,775
JBrowse link
G Tcn2 transcobalamin 2 ISO associated with Glomerulonephritis;protein:increased expression:serum: RGD PMID:3574578 RGD:11060121 NCBI chr14:84,173,992...84,189,299
Ensembl chr14:84,174,138...84,189,266
JBrowse link
G Tnf tumor necrosis factor ISO protein:increased expression:serum RGD PMID:19860001 RGD:10450529 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Tslp thymic stromal lymphopoietin ISS MouseDO NCBI chr18:25,613,601...25,618,066
Ensembl chr18:25,613,831...25,617,361
JBrowse link
cryoglobulinemic vasculitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aicda activation-induced cytidine deaminase ISO associated with Chronic Hepatitis C; mRNA:increased expression:B cell RGD PMID:26219420 RGD:30296664 NCBI chr 4:155,359,909...155,371,104
Ensembl chr 4:155,359,921...155,369,671
JBrowse link
G Tslp thymic stromal lymphopoietin ISO associated with Chronic Hepatitis C; mRNA, protein:increased expression:skin, serum (human) RGD PMID:25889007 RGD:38596329 NCBI chr18:25,613,601...25,618,066
Ensembl chr18:25,613,831...25,617,361
JBrowse link
Diarrhea prodrome + Hemolytic-Uremic Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gp1ba glycoprotein Ib platelet subunit alpha ISO associated with Escherichia Coli Infections;DNA:SNP:exon: (rs121908064) (human) RGD PMID:29216383 RGD:42722620 NCBI chr10:57,260,680...57,263,546
Ensembl chr10:57,260,680...57,263,546
JBrowse link
disseminated intravascular coagulation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamts13 ADAM metallopeptidase with thrombospondin type 1 motif, 13 ISO protein:decreased expression, decreased activity:plasma (human) RGD PMID:16189276 RGD:10449048 NCBI chr 3:5,519,921...5,558,390
Ensembl chr 3:5,519,990...5,558,166
JBrowse link
G Elane elastase, neutrophil expressed ISO protein:increased expression:plasma:
associated with Multiple Organ Failure, Craniocerebral Trauma;protein:increased expression:plasma:
RGD PMID:20655560, PMID:10912863 RGD:10450544, RGD:10450545 NCBI chr 7:12,638,320...12,640,168
Ensembl chr 7:12,638,322...12,640,232
JBrowse link
G F13a1 coagulation factor XIII A1 chain ISO RGD PMID:16642548 RGD:1581020 NCBI chr17:28,504,650...28,680,015
Ensembl chr17:28,504,623...28,680,362
JBrowse link
G F2 coagulation factor II IDA
ISO
CTD Direct Evidence: marker/mechanism
associated with Wounds and Injuries
CTD PMID:1894189, PMID:22229668, PMID:23737601, PMID:1336986, PMID:19682336 RGD:6893489, RGD:10449432, RGD:10449429, RGD:10449422 NCBI chr 3:80,529,468...80,542,993
Ensembl chr 3:80,529,428...80,543,031
JBrowse link
G F3 coagulation factor III, tissue factor ISO
IEP
protein:increased expression:plasma
CTD Direct Evidence: marker/mechanism
mRNA, protein:increased expression:lung, plasma
associated with Leukemia, Myeloid
CTD PMID:7740478 PMID:9134660 PMID:20642682, PMID:8914465, PMID:9426395, PMID:3802033 RGD:11060253, RGD:11060265, RGD:11341675 NCBI chr 2:225,310,686...225,322,281
Ensembl chr 2:225,310,624...225,322,272
JBrowse link
G F7 coagulation factor VII ISO CTD Direct Evidence: marker/mechanism CTD PMID:16159073 NCBI chr16:81,824,610...81,834,923
Ensembl chr16:81,824,111...81,834,945
JBrowse link
G Fga fibrinogen alpha chain treatment IEP
IDA
protein:decreased expression:plasma (rat) RGD PMID:23538169, PMID:22800895 RGD:10755508, RGD:10755509 NCBI chr 2:181,997,562...182,013,726
Ensembl chr 2:182,006,242...182,013,763
JBrowse link
G Il10 interleukin 10 ISO protein:increased expression:plasma RGD PMID:16613997 RGD:11049462 NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
JBrowse link
G Il6 interleukin 6 severity
treatment
ISO
IEP
IDA
associated with Hemorrhagic Fever, Crimean
protein:increased expression:plasma (rat)
RGD PMID:16518755, PMID:16932226, PMID:16810104, PMID:16613997 RGD:10450536, RGD:11062099, RGD:11060278, RGD:11049462 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G Oxt oxytocin/neurophysin I prepropeptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:15547535 NCBI chr 3:123,106,694...123,107,534
Ensembl chr 3:123,106,694...123,107,534
JBrowse link
G Plat plasminogen activator, tissue type treatment ISO
IDA
protein:increased expression:plasma (human)
associated with Jaundice, Obstructive
RGD PMID:23726093, PMID:1425827 RGD:11541052, RGD:11541087 NCBI chr16:74,098,263...74,122,897
Ensembl chr16:74,098,260...74,122,889
JBrowse link
G Proc protein C, inactivator of coagulation factors Va and VIIIa treatment ISO CTD Direct Evidence: marker/mechanism CTD PMID:18376272, PMID:9788960, PMID:10936861 RGD:11099993, RGD:11100014 NCBI chr18:24,918,402...24,928,822
Ensembl chr18:24,918,398...24,929,091
JBrowse link
G Serpinc1 serpin family C member 1 treatment ISO associated with Endotoxemia
CTD Direct Evidence: marker/mechanism|therapeutic
CTD PMID:6233579 PMID:8810955 PMID:9637888, PMID:2679067 RGD:11035251 NCBI chr13:78,806,107...78,820,375
Ensembl chr13:78,805,347...78,833,192
JBrowse link
G Serpine1 serpin family E member 1 treatment IDA
IEP
associated with Endotoxemia
protein:increased expression:blood (rat)
RGD PMID:15869603, PMID:23737601 RGD:11080963, RGD:10449432 NCBI chr12:22,641,104...22,651,482
Ensembl chr12:22,641,104...22,651,482
JBrowse link
G Tfpi tissue factor pathway inhibitor treatment ISO
IEP
mRNA, protein:increased expression:lung, plasma
protein:increased expression:plasma:
RGD PMID:11074537, PMID:8292719, PMID:8929465, PMID:9426395, PMID:8914465 RGD:11060128, RGD:11341674, RGD:11062067, RGD:11060265, RGD:11060253 NCBI chr 3:71,852,738...71,902,127
Ensembl chr 3:71,852,744...71,893,618
JBrowse link
G Thbd thrombomodulin treatment ISO CTD Direct Evidence: therapeutic CTD PMID:9134660, PMID:21569368, PMID:23952647 RGD:5685034, RGD:11038686 NCBI chr 3:142,748,673...142,752,325
Ensembl chr 3:142,748,674...142,752,325
JBrowse link
G Tnf tumor necrosis factor severity ISO associated with Hemorrhagic Fever, Crimean RGD PMID:16518755 RGD:10450536 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
Drug-Induced Immune Thrombocytopenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc2 ATP binding cassette subfamily C member 2 susceptibility ISO associated with Carcinoma, Non-Small-Cell Lung;DNA:SNP, haplotype:promoter,cds: 3972C>T, -24C>T(human) RGD PMID:20943283 RGD:11080978 NCBI chr 1:263,554,426...263,612,556
Ensembl chr 1:263,554,453...263,613,252
JBrowse link
G Dpyd dihydropyrimidine dehydrogenase treatment ISO associated with Neoplasms;DNA:SNP:intron:IVS14+1G>A (human)
associated with Stomach Neoplasms
RGD PMID:19473056, PMID:23064955 RGD:11098817, RGD:11251740 NCBI chr 2:221,823,692...222,694,627
Ensembl chr 2:221,823,687...222,694,627
JBrowse link
G Gstm1 glutathione S-transferase mu 1 susceptibility
treatment
ISO associated with Ovarian Neoplasms;DNA:deletion: : (human)
associated with diffuse large B-cell lymphoma; DNA:deletion:cds:
RGD PMID:19786980, PMID:20303013 RGD:5688741, RGD:10450835 NCBI chr 2:210,803,869...210,809,461
Ensembl chr 2:210,803,869...210,809,306
JBrowse link
G Gstt1 glutathione S-transferase theta 1 treatment ISO associated with diffuse large B-cell lymphoma; DNA:deletion:cds: RGD PMID:20303013 RGD:10450835 NCBI chr20:13,799,102...13,816,527
Ensembl chr20:13,799,102...13,816,526
JBrowse link
G Il1a interleukin 1 alpha treatment ISO associated with Carcinoma, Non-Small-Cell Lung
associated with Ovarian Neoplasms
RGD PMID:7666093, PMID:8151314 RGD:11051963, RGD:11051964 NCBI chr 3:121,824,712...121,836,122
Ensembl chr 3:121,825,412...121,836,086
JBrowse link
G Il1b interleukin 1 beta treatment ISO associated with Glioblastoma; RGD PMID:1331350 RGD:10450883 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
JBrowse link
G Pecam1 platelet and endothelial cell adhesion molecule 1 severity ISO RGD PMID:10942385, PMID:17234740 RGD:11541093, RGD:11541120 NCBI chr10:94,850,971...94,913,202 JBrowse link
Ehlers-Danlos syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamts2 ADAM metallopeptidase with thrombospondin type 1 motif, 2 susceptibility ISO RGD PMID:10417273 RGD:1598739 NCBI chr10:36,098,051...36,304,416
Ensembl chr10:36,098,051...36,304,409
JBrowse link
G B4galt7 beta-1,4-galactosyltransferase 7 susceptibility ISO DNA:transition:exon;808C>T RGD PMID:10473568 RGD:1599433 NCBI chr17:9,549,605...9,558,672
Ensembl chr17:9,550,028...9,558,634
JBrowse link
G C1r complement C1r ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome ClinVar NCBI chr 4:157,126,060...157,136,825
Ensembl chr 4:157,125,998...157,136,829
JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO
ISS
DNA:transition mutation:splice junction:
OMIM:225400
MouseDO PMID:24443344 RGD:11571617 NCBI chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789
JBrowse link
G Col1a2 collagen type I alpha 2 chain ISO RGD PMID:15077201 RGD:1581198 NCBI chr 4:31,534,225...31,569,152
Ensembl chr 4:31,534,225...31,569,151
JBrowse link
G Col3a1 collagen type III alpha 1 chain ISO DNA:mutations:multiple (human)
ClinVar Annotator: match by term: Ehlers-Danlos syndrome
CTD Direct Evidence: marker/mechanism
DNA:deletion:exon
DNA:deletion:promoter, exons, introns
ClinVar
CTD
PMID:2049575 PMID:21086191 PMID:24033266 PMID:25637381 PMID:25741868 PMID:25758994 PMID:25846194 PMID:27011056 PMID:27964749 PMID:28492532 PMID:28748566 PMID:30374176, PMID:10706896, PMID:1370809, PMID:21071432, PMID:16012458 RGD:1300381, RGD:11041602, RGD:11041599, RGD:7257554 NCBI chr 9:52,023,295...52,059,221
Ensembl chr 9:52,023,295...52,059,217
JBrowse link
G Col5a1 collagen type V alpha 1 chain ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome
DNA:repeat:intron:IVS17 (human)
ClinVar PMID:12145749, PMID:11278977, PMID:10777716, PMID:8752669 RGD:1581210, RGD:1581211, RGD:1581212, RGD:734808 NCBI chr 3:6,430,180...6,581,010
Ensembl chr 3:6,430,201...6,578,882
JBrowse link
G Col5a2 collagen type V alpha 2 chain ISO EDS type 1, OMIM:130000, EDS type 2, OMIM:130010, DNA:deletions RGD PMID:9425231 RGD:734809 NCBI chr 9:52,091,088...52,238,735
Ensembl chr 9:52,092,511...52,238,564
JBrowse link
G Dcn decorin ISS OMIM:225400 MouseDO NCBI chr 7:38,742,250...38,782,282
Ensembl chr 7:38,742,051...38,782,323
JBrowse link
G Flna filamin A ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome ClinVar PMID:25741868 NCBI chr  X:156,460,785...156,487,245
Ensembl chr  X:156,463,953...156,487,245
JBrowse link
G Lox lysyl oxidase ISO RGD PMID:8638917 RGD:1581895 NCBI chr18:47,500,320...47,577,819
Ensembl chr18:47,500,330...47,577,819
JBrowse link
G Plod1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 ISS
ISO
OMIM:225400
ClinVar Annotator: match by term: Ehlers-Danlos syndrome
MouseDO
ClinVar
PMID:25741868 PMID:28492532 NCBI chr 5:164,720,629...164,747,071
Ensembl chr 5:164,720,587...164,747,083
JBrowse link
G Slc39a13 solute carrier family 39 member 13 ISO CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:p.G74D (human)
CTD PMID:18985159, PMID:18985159, PMID:18985159 RGD:11553861, RGD:11553861 NCBI chr 3:79,884,524...79,892,664
Ensembl chr 3:79,884,524...79,892,429
JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO protein:increased expression:plasma: RGD PMID:24399159 RGD:11073604 NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
JBrowse link
G Tnxb tenascin XB ISO RGD PMID:11642233 RGD:1599494
Ehlers-Danlos syndrome arthrochalasia type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col1a1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome arthrochalasia type
ClinVar Annotator: match by term: Arthrochalasis multiplex congenita
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 7A
ClinVar
OMIM
PMID:2037280 PMID:7695699 PMID:7942841 PMID:8218237 PMID:8408653 PMID:8613526 PMID:8669434 PMID:8808594 PMID:9016532 PMID:9067755 PMID:9295084 PMID:9443882 PMID:10931857 PMID:12590186 PMID:15024692 PMID:15024745 PMID:15741671 PMID:15864348 PMID:15931785 PMID:16786509 PMID:17078022 PMID:17309652 PMID:18412368 PMID:18553566 PMID:18704262 PMID:19344236 PMID:19358256 PMID:21249479 PMID:21567126 PMID:21667357 PMID:22589248 PMID:22753364 PMID:24390061 PMID:25086671 PMID:25741868 PMID:25944380 PMID:25963598 PMID:26177859 PMID:26467025 PMID:27132807 PMID:27509835 PMID:27510842 PMID:27748872 PMID:28166811 PMID:28378289 PMID:28492532 PMID:29543232, PMID:9295084 RGD:734803 NCBI chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789
JBrowse link
G Col1a2 collagen type I alpha 2 chain ISO ClinVar Annotator: match by OMIM:130060 ClinVar NCBI chr 4:31,534,225...31,569,152
Ensembl chr 4:31,534,225...31,569,151
JBrowse link
G Col5a1 collagen type V alpha 1 chain ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 7A ClinVar PMID:10471441 PMID:10602121 PMID:10946364 PMID:11992482 PMID:12145749 PMID:15580559 PMID:19019335 PMID:19370768 PMID:20635400 PMID:20979576 PMID:22696272 PMID:24033266 PMID:24685354 PMID:24951259 PMID:25741868 PMID:26608033 PMID:26854089 PMID:27011056 PMID:28166811 PMID:28492532 PMID:29924831 PMID:30858776 NCBI chr 3:6,430,180...6,581,010
Ensembl chr 3:6,430,201...6,578,882
JBrowse link
G Col5a2 collagen type V alpha 2 chain ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 7A ClinVar PMID:25326637 PMID:25741868 PMID:27854218 PMID:28492532 NCBI chr 9:52,091,088...52,238,735
Ensembl chr 9:52,092,511...52,238,564
JBrowse link
Ehlers-Danlos syndrome arthrochalasia type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col1a1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 2 ClinVar PMID:9443882 PMID:18311573 PMID:21667357 PMID:22206639 PMID:25944380 PMID:26627451 PMID:28492532 PMID:32581362 NCBI chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789
JBrowse link
G Col1a2 collagen type I alpha 2 chain ISO ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, TYPE VIIB, AUTOSOMAL DOMINANT
ClinVar Annotator: match by term: Ehlers-danlos syndrome, arthrochalasia type, 2
ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 2
ClinVar
OMIM
PMID:1556139 PMID:1577745 PMID:1712342 PMID:1978725 PMID:1990839 PMID:2454224 PMID:2777808 PMID:2985635 PMID:2993307 PMID:3372533 PMID:3621666 PMID:3680255 PMID:3733683 PMID:4742738 PMID:6092353 PMID:6773953 PMID:7695699 PMID:7860070 PMID:7864655 PMID:8081389 PMID:8094076 PMID:8218237 PMID:8456808 PMID:9016532 PMID:9272740 PMID:9399846 PMID:9536098 PMID:9594376 PMID:9923651 PMID:10976985 PMID:11288717 PMID:11317364 PMID:15077201 PMID:15172002 PMID:16705691 PMID:16816023 PMID:17078022 PMID:17576681 PMID:18028452 PMID:18272325 PMID:18996919 PMID:19344236 PMID:21520333 PMID:21884818 PMID:22589248 PMID:24033266 PMID:25326637 PMID:25450603 PMID:25633413 PMID:25741868 PMID:25835785 PMID:25944380 PMID:26432670 PMID:26467025 PMID:26604951 PMID:27056980 PMID:27510842 PMID:27519266 PMID:28492532 PMID:31319225 NCBI chr 4:31,534,225...31,569,152
Ensembl chr 4:31,534,225...31,569,151
JBrowse link
Ehlers-Danlos syndrome cardiac valvular type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col1a1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome cardiac valvular type ClinVar PMID:2037280 PMID:7695699 PMID:7942841 PMID:8218237 PMID:8408653 PMID:8613526 PMID:8669434 PMID:8808594 PMID:9016532 PMID:9067755 PMID:9295084 PMID:9443882 PMID:10931857 PMID:12590186 PMID:15024692 PMID:15024745 PMID:15741671 PMID:15864348 PMID:15931785 PMID:16786509 PMID:17078022 PMID:17309652 PMID:18412368 PMID:18553566 PMID:18704262 PMID:19344236 PMID:19358256 PMID:21249479 PMID:21567126 PMID:21667357 PMID:22589248 PMID:22753364 PMID:24390061 PMID:25086671 PMID:25741868 PMID:25944380 PMID:25963598 PMID:26177859 PMID:26467025 PMID:27132807 PMID:27509835 PMID:27510842 PMID:27748872 PMID:28166811 PMID:28378289 PMID:28492532 PMID:29543232 NCBI chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789
JBrowse link
G Col1a2 collagen type I alpha 2 chain ISO ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR TYPE
ClinVar Annotator: match by term: Ehlers-Danlos syndrome cardiac valvular type
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:225320
OMIM
ClinVar
CTD
PMID:3049731 PMID:3383844 PMID:7695699 PMID:7860070 PMID:8094076 PMID:8218237 PMID:9016532 PMID:9272740 PMID:9295084 PMID:9594376 PMID:15077201 PMID:16705691 PMID:16816023 PMID:17078022 PMID:19344236 PMID:21520333 PMID:22589248 PMID:25326637 PMID:25450603 PMID:25741868 PMID:25944380 PMID:26604951 PMID:27519266 PMID:28492532 NCBI chr 4:31,534,225...31,569,152
Ensembl chr 4:31,534,225...31,569,151
JBrowse link
Ehlers-Danlos syndrome classic type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abo ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:4,374,679...4,394,374
Ensembl chr 3:4,374,602...4,394,428
JBrowse link
G Adamts13 ADAM metallopeptidase with thrombospondin type 1 motif, 13 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:5,519,921...5,558,390
Ensembl chr 3:5,519,990...5,558,166
JBrowse link
G Adamtsl2 ADAMTS-like 2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:5,624,473...5,654,890
Ensembl chr 3:5,624,506...5,654,910
JBrowse link
G Aebp1 AE binding protein 1 ISO ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 ClinVar PMID:25741868 PMID:30759870 NCBI chr14:86,101,253...86,111,323
Ensembl chr14:86,101,277...86,111,306
JBrowse link
G Ak8 adenylate kinase 8 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:7,279,429...7,394,509
Ensembl chr 3:7,279,340...7,394,513
JBrowse link
G Barhl1 BarH-like homeobox 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:7,491,234...7,498,555
Ensembl chr 3:7,491,234...7,498,555
JBrowse link
G Brd3 bromodomain containing 3 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:5,995,204...6,054,467
Ensembl chr 3:5,997,315...6,054,483
JBrowse link
G Cacfd1 calcium channel flower domain containing 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:5,555,807...5,571,205
Ensembl chr 3:5,555,807...5,572,064
JBrowse link
G Casd1 CAS1 domain containing 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 4:29,638,280...29,693,151
Ensembl chr 4:29,639,154...29,691,928
JBrowse link
G Cel carboxyl ester lipase ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:7,134,021...7,141,522
Ensembl chr 3:7,134,021...7,141,522
JBrowse link
G Cfap77 cilia and flagella associated protein 77 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:7,508,500...7,632,311
Ensembl chr 3:7,508,496...7,632,345
JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 ClinVar PMID:10739762 PMID:17211858 PMID:23587214 PMID:25597651 PMID:25741868 PMID:28102596 PMID:28492532 NCBI chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789
JBrowse link
G Col1a2 collagen type I alpha 2 chain ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type
ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
ClinVar PMID:1978725 PMID:1990009 PMID:2454224 PMID:2777808 PMID:2985635 PMID:2993307 PMID:3372533 PMID:3680255 PMID:4742738 PMID:6092353 PMID:6773953 PMID:7693712 PMID:7695699 PMID:7749416 PMID:7860070 PMID:7891382 PMID:8081389 PMID:8094076 PMID:8218237 PMID:8829649 PMID:9016532 PMID:9099837 PMID:9272740 PMID:9399846 PMID:9536098 PMID:9594376 PMID:9923651 PMID:10027910 PMID:11288717 PMID:11317364 PMID:11359465 PMID:15077201 PMID:15172002 PMID:15241796 PMID:16705691 PMID:16786509 PMID:16816023 PMID:16879195 PMID:17078022 PMID:17576681 PMID:18028452 PMID:18311573 PMID:18996919 PMID:19344236 PMID:19594296 PMID:21520333 PMID:21667357 PMID:22206639 PMID:22589248 PMID:22753364 PMID:23548243 PMID:23692737 PMID:23934635 PMID:24033266 PMID:24342908 PMID:24501682 PMID:24668929 PMID:25146735 PMID:25289482 PMID:25326637 PMID:25450603 PMID:25741868 PMID:25835785 PMID:25944380 PMID:26138843 PMID:26177859 PMID:26371943 PMID:26402641 PMID:26432670 PMID:26467025 PMID:26471105 PMID:26551090 PMID:26604951 PMID:26627451 PMID:27056980 PMID:27509835 PMID:27510842 PMID:27519266 PMID:27748872 PMID:28378289 PMID:28492532 PMID:28498836 PMID:28725987 PMID:28810924 PMID:29595812 PMID:29807018 PMID:30283887 PMID:30715774 PMID:31363794 PMID:31414283 NCBI chr 4:31,534,225...31,569,152
Ensembl chr 4:31,534,225...31,569,151
JBrowse link
G Col5a1 collagen type V alpha 1 chain ISO ClinVar Annotator: match by OMIM:130000
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1
CTD Direct Evidence: marker/mechanism
ClinVar
OMIM
CTD
PMID:7695699 PMID:8218237 PMID:8575750 PMID:8752669 PMID:8923000 PMID:8950675 PMID:9042913 PMID:9536098 PMID:9683580 PMID:10471441 PMID:10602121 PMID:10777716 PMID:10796876 PMID:10946364 PMID:11992482 PMID:12145749 PMID:15264295 PMID:15580559 PMID:17576681 PMID:19019335 PMID:19344236 PMID:19370768 PMID:20635400 PMID:20979576 PMID:22696272 PMID:23587214 PMID:24033266 PMID:24088041 PMID:24685354 PMID:24951259 PMID:25326637 PMID:25640679 PMID:25741868 PMID:26188975 PMID:26608033 PMID:26633545 PMID:26854089 PMID:27011056 PMID:28166811 PMID:28454995 PMID:28485813 PMID:28492532 PMID:28550590 PMID:28714197 PMID:28750028 PMID:29924831 PMID:30858776 PMID:31064749 PMID:31903434 PMID:32581362 PMID:32720758 NCBI chr 3:6,430,180...6,581,010
Ensembl chr 3:6,430,201...6,578,882
JBrowse link
G Col5a2 collagen type V alpha 2 chain ISO
ISS
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type
ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, SEVERE CLASSIC TYPE
OMIM:130000
ClinVar
MouseDO
PMID:2855059 PMID:7695699 PMID:8218237 PMID:9425231 PMID:9536098 PMID:9783710 PMID:11940702 PMID:15580559 PMID:17576681 PMID:19344236 PMID:20301422 PMID:22696272 PMID:23587214 PMID:25326637 PMID:25741868 PMID:27854218 PMID:28132693 PMID:28166811 PMID:28492532 PMID:28550590 PMID:28855619 PMID:28991257 NCBI chr 9:52,091,088...52,238,735
Ensembl chr 9:52,092,511...52,238,564
JBrowse link
G Dbh dopamine beta-hydroxylase ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:5,709,236...5,731,895
Ensembl chr 3:5,709,236...5,731,898
JBrowse link
G Ddx31 DEAD-box helicase 31 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:7,422,871...7,488,299
Ensembl chr 3:7,422,820...7,488,617
JBrowse link
G Fam163b family with sequence similarity 163, member B ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:5,656,400...5,693,273
Ensembl chr 3:5,656,163...5,693,147
JBrowse link
G Fcnb ficolin B ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:6,617,816...6,626,193
Ensembl chr 3:6,617,751...6,626,284
JBrowse link
G Flna filamin A ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar NCBI chr  X:156,460,785...156,487,245
Ensembl chr  X:156,463,953...156,487,245
JBrowse link
G Gbgt1 globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 (FORS blood group) ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:7,076,582...7,079,652 JBrowse link
G Gfi1b growth factor independent 1B transcriptional repressor ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:7,190,721...7,203,444
Ensembl chr 3:7,190,722...7,203,420
JBrowse link
G Glt6d1 glycosyltransferase 6 domain containing 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:3,255,645...3,266,276
Ensembl chr 3:3,255,638...3,266,260
JBrowse link
G Gtf3c4 general transcription factor IIIC subunit 4 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:7,404,857...7,422,779
Ensembl chr 3:7,404,841...7,422,738
JBrowse link
G Gtf3c5 general transcription factor IIIC subunit 5 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:7,144,354...7,164,678
Ensembl chr 3:7,144,250...7,164,654
JBrowse link
G Kcnt1 potassium sodium-activated channel subfamily T member 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:3,310,641...3,366,558
Ensembl chr 3:3,310,954...3,365,340
JBrowse link
G Lcn9 lipocalin 9 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:3,272,150...3,274,792
Ensembl chr 3:3,272,193...3,274,547
JBrowse link
G Lum lumican ISS OMIM:130000 MouseDO NCBI chr 7:38,820,058...38,826,862
Ensembl chr 7:38,819,771...38,826,862
JBrowse link
G Med12 mediator complex subunit 12 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr  X:71,174,653...71,197,812
Ensembl chr  X:71,174,699...71,197,812
JBrowse link
G Med22 mediator complex subunit 22 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:5,453,678...5,458,760
Ensembl chr 3:5,453,614...5,458,782
Ensembl chr 3:5,453,614...5,458,782
JBrowse link
G Med27 mediator complex subunit 27 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:7,884,793...8,059,003
Ensembl chr 3:7,884,822...8,059,003
JBrowse link
G Mrps2 mitochondrial ribosomal protein S2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:7,051,695...7,056,726
Ensembl chr 3:7,051,695...7,058,521
JBrowse link
G Myh11 myosin heavy chain 11 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:25741868 NCBI chr10:764,421...859,184
Ensembl chr10:764,421...859,184
JBrowse link
G Mymk myomaker, myoblast fusion factor ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:5,608,243...5,617,689
Ensembl chr 3:5,608,243...5,617,225
JBrowse link
G Ntng2 netrin G2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:7,742,511...7,800,834
Ensembl chr 3:7,742,531...7,796,385
JBrowse link
G Obp2a odorant binding protein 2A ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:2,908,684...2,913,362
Ensembl chr 3:2,910,083...2,913,362
JBrowse link
G Olfm1 olfactomedin 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:6,761,031...6,798,739
Ensembl chr 3:6,773,813...6,798,737
JBrowse link
G Paep progestagen associated endometrial protein ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:2,935,396...2,938,883 JBrowse link
G Pomt1 protein-O-mannosyltransferase 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:11,253,424...11,271,873
Ensembl chr 3:11,254,026...11,271,872
JBrowse link
G Ppp1r26 protein phosphatase 1, regulatory subunit 26 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:7,032,118...7,040,615 JBrowse link
G Ralgds ral guanine nucleotide dissociation stimulator ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:7,090,134...7,130,548
Ensembl chr 3:7,109,920...7,130,548
JBrowse link
G Rapgef1 Rap guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:8,189,594...8,307,077
Ensembl chr 3:8,192,575...8,304,976
JBrowse link
G Rexo4 REX4 homolog, 3'-5' exonuclease ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:5,500,578...5,510,908
Ensembl chr 3:5,500,589...5,510,908
JBrowse link
G RGD1306233 similar to hypothetical protein MGC29761 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:7,047,603...7,051,953
Ensembl chr 3:7,047,603...7,051,953
JBrowse link
G Rpl7a ribosomal protein L7a ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:5,458,985...5,461,627
Ensembl chr 3:5,459,160...5,461,583
Ensembl chr 3:5,459,160...5,461,583
JBrowse link
G Rxra retinoid X receptor alpha ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:6,272,560...6,295,354
Ensembl chr 3:6,211,789...6,295,908
JBrowse link
G Sardh sarcosine dehydrogenase ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:5,737,203...5,802,153
Ensembl chr 3:5,737,200...5,802,129
JBrowse link
G Setx senataxin ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:7,680,430...7,731,815
Ensembl chr 3:7,686,503...7,730,539
JBrowse link
G Sgce sarcoglycan, epsilon ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 4:29,726,140...29,769,902
Ensembl chr 4:29,726,146...29,778,039
JBrowse link
G Slc2a10 solute carrier family 2 member 10 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar NCBI chr 3:162,182,156...162,194,610
Ensembl chr 3:162,181,974...162,194,804
JBrowse link
G Slc2a6 solute carrier family 2 member 6 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:5,567,729...5,575,144
Ensembl chr 3:5,568,321...5,575,136
JBrowse link
G Sohlh1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:3,290,766...3,295,226
Ensembl chr 3:3,291,084...3,295,101
JBrowse link
G Spaca9 sperm acrosome associated 9 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:7,269,851...7,279,253
Ensembl chr 3:7,269,853...7,278,758
JBrowse link
G Stkld1 serine/threonine kinase-like domain containing 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:5,481,524...5,500,568
Ensembl chr 3:5,481,522...5,500,583
JBrowse link
G Surf1 SURF1, cytochrome c oxidase assembly factor ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:5,461,717...5,464,560
Ensembl chr 3:4,869,795...4,872,632
JBrowse link
G Surf2 surfeit 2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:5,464,593...5,468,426
Ensembl chr 3:5,464,424...5,468,244
Ensembl chr 3:5,464,424...5,468,244
JBrowse link
G Surf4 surfeit 4 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:5,468,284...5,481,447
Ensembl chr 3:5,461,770...5,483,239
JBrowse link
G Surf6 surfeit 6 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:5,441,404...5,452,156
Ensembl chr 3:5,441,409...5,452,156
JBrowse link
G Tgfbr1 transforming growth factor, beta receptor 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:30675029 NCBI chr 5:63,056,071...63,119,635
Ensembl chr 5:63,050,758...63,119,635
JBrowse link
G Tsc1 TSC complex subunit 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:7,219,955...7,269,063
Ensembl chr 3:7,237,192...7,265,145
JBrowse link
G Ttf1 transcription termination factor 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:7,635,630...7,660,153
Ensembl chr 3:7,635,933...7,660,673
JBrowse link
G Uck1 uridine-cytidine kinase 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:11,271,874...11,277,757
Ensembl chr 3:11,271,885...11,277,757
JBrowse link
G Vav2 vav guanine nucleotide exchange factor 2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:5,811,504...5,976,311
Ensembl chr 3:5,811,504...5,976,244
JBrowse link
G Vegp2 von Ebners gland protein 2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:4,217,260...4,221,330
Ensembl chr 3:4,217,260...4,221,330
JBrowse link
G Wdr5 WD repeat domain 5 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:6,061,892...6,080,724
Ensembl chr 3:6,061,940...6,080,680
JBrowse link
Ehlers-Danlos syndrome classic type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col5a1 collagen type V alpha 1 chain ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 2
CTD
ClinVar
PMID:8752669 PMID:9042913 PMID:25741868 PMID:28492532 NCBI chr 3:6,430,180...6,581,010
Ensembl chr 3:6,430,201...6,578,882
JBrowse link
G Col5a2 collagen type V alpha 2 chain ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 2
ClinVar Annotator: match by term: Ehlers-Danlos syndrome classic type 2
ClinVar
OMIM
PMID:2855059 PMID:11940702 PMID:25326637 PMID:25741868 PMID:27854218 PMID:28132693 PMID:28166811 PMID:28492532 PMID:28550590 NCBI chr 9:52,091,088...52,238,735
Ensembl chr 9:52,092,511...52,238,564
JBrowse link
Ehlers-Danlos syndrome classic-like 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tnxb tenascin XB ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome due to tenascin-X deficiency
ClinVar Annotator: match by term: Ehlers-Danlos-like syndrome due to tenascin-X deficiency
ClinVar Annotator: match by OMIM:606408
OMIM
ClinVar
PMID:1620134 PMID:9288108 PMID:11642233 PMID:11925569 PMID:12865992 PMID:15733269 PMID:20649799 PMID:23284009 PMID:23768946 PMID:24033266 PMID:24088041 PMID:25741868 PMID:26075496 PMID:26633545 PMID:28344932 PMID:31731524
Ehlers-Danlos syndrome classic-like 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aebp1 AE binding protein 1 ISO ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2 ClinVar
OMIM
PMID:25741868 PMID:27023906 PMID:29606302 NCBI chr14:86,101,253...86,111,323
Ensembl chr14:86,101,277...86,111,306
JBrowse link
Ehlers-Danlos syndrome dermatosparaxis type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamts2 ADAM metallopeptidase with thrombospondin type 1 motif, 2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome dermatosparaxis type
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type vii, autosomal recessive
ClinVar Annotator: match by OMIM:225410
DNA:deletions: :
OMIM
ClinVar
PMID:1642226 PMID:7735500 PMID:8215497 PMID:8986271 PMID:9536098 PMID:10417273 PMID:15373769 PMID:15389701 PMID:17576681 PMID:18973246 PMID:22863189 PMID:23495203 PMID:25741868 PMID:26765342 PMID:28346524 PMID:28492532 PMID:29843651, PMID:15373769 RGD:1598738 NCBI chr10:36,098,051...36,304,416
Ensembl chr10:36,098,051...36,304,409
JBrowse link
G Canx calnexin ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome dermatosparaxis type ClinVar PMID:28492532 NCBI chr10:35,800,942...35,833,939
Ensembl chr10:35,800,942...35,833,861
JBrowse link
G Cby3 chibby family member 3 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome dermatosparaxis type ClinVar PMID:28492532 NCBI chr10:35,855,320...35,860,266
Ensembl chr10:35,857,797...35,860,987
JBrowse link
G Hnrnph1 heterogeneous nuclear ribonucleoprotein H1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome dermatosparaxis type ClinVar PMID:28492532 NCBI chr10:35,872,619...35,879,911
Ensembl chr10:35,870,232...35,879,910
JBrowse link
G LOC502109 similar to FLJ46321 protein ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome dermatosparaxis type ClinVar PMID:28492532 NCBI chr17:2,804,181...2,809,126
Ensembl chr17:2,804,307...2,808,368
JBrowse link
G Ltc4s leukotriene C4 synthase ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome dermatosparaxis type ClinVar PMID:28492532 NCBI chr10:35,736,486...35,743,088
Ensembl chr10:35,737,664...35,739,625
JBrowse link
G Maml1 mastermind-like transcriptional coactivator 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome dermatosparaxis type ClinVar PMID:28492532 NCBI chr10:35,765,196...35,801,375
Ensembl chr10:35,765,719...35,800,120
JBrowse link
G Mgat4b alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase B ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome dermatosparaxis type ClinVar PMID:28492532 NCBI chr10:35,726,501...35,736,338
Ensembl chr10:35,726,544...35,736,338
JBrowse link
G Rufy1 RUN and FYVE domain containing 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome dermatosparaxis type ClinVar PMID:28492532 NCBI chr10:35,882,805...35,927,268
Ensembl chr10:35,882,805...35,927,268
JBrowse link
G Sqstm1 sequestosome 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome dermatosparaxis type ClinVar PMID:28492532 NCBI chr10:35,704,728...35,716,316
Ensembl chr10:35,704,730...35,716,294
JBrowse link
Ehlers-Danlos syndrome hypermobility type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col3a1 collagen type III alpha 1 chain ISO DNA:missense mutation: :p.G637S (2512G>A) (human)
ClinVar Annotator: match by term: Ehlers-Danlos Syndrome, Hypermobility Type
ClinVar PMID:25741868 PMID:25758994 PMID:26854089 PMID:28087566 PMID:28492532 PMID:29590070 PMID:30087447 PMID:31531849, PMID:7833919 RGD:11041770 NCBI chr 9:52,023,295...52,059,221
Ensembl chr 9:52,023,295...52,059,217
JBrowse link
G Notch1 notch receptor 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 3 ClinVar NCBI chr 3:3,905,562...3,951,015
Ensembl chr 3:3,905,453...3,951,025
JBrowse link
G Tnxb tenascin XB ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 3 ClinVar PMID:25326637
Ehlers-Danlos syndrome kyphoscoliotic type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mfn2 mitofusin 2 ISO ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, OCULAR-SCOLIOTIC TYPE ClinVar NCBI chr 5:164,684,244...164,715,414
Ensembl chr 5:164,684,509...164,714,145
JBrowse link
G Plod1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, hydroxylysine-deficient
ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, OCULAR-SCOLIOTIC TYPE
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:225400
OMIM
ClinVar
CTD
PMID:222849 PMID:416188 PMID:1345174 PMID:3110540 PMID:3931636 PMID:4373475 PMID:5016372 PMID:6089551 PMID:7977351 PMID:8163671 PMID:8449506 PMID:8533783 PMID:8574422 PMID:8981946 PMID:9152832 PMID:9220536 PMID:9450904 PMID:9536098 PMID:9617436 PMID:9893157 PMID:10329027 PMID:10874315 PMID:11001813 PMID:14565595 PMID:15666309 PMID:15979919 PMID:16758144 PMID:17576681 PMID:19320026 PMID:21699693 PMID:22001912 PMID:25277362 PMID:25326635 PMID:25637337 PMID:25741868 PMID:28384719 PMID:28492532 NCBI chr 5:164,720,629...164,747,071
Ensembl chr 5:164,720,587...164,747,083
JBrowse link
Ehlers-Danlos syndrome kyphoscoliotic type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fkbp14 FKBP prolyl isomerase 14 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss
ClinVar Annotator: match by OMIM:614557
OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:22265013 PMID:24677762 PMID:25741868 PMID:27149304 PMID:27905128 PMID:28492532 PMID:28617417 PMID:31132235 NCBI chr 4:84,753,628...84,768,314
Ensembl chr 4:84,753,633...84,768,249
JBrowse link
Ehlers-Danlos syndrome musculocontractural type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chst14 carbohydrate sulfotransferase 14 ISO ClinVar Annotator: match by term: Adducted Thumb-Clubfoot Syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:601776
OMIM
ClinVar
CTD
PMID:1184396 PMID:9084938 PMID:10766984 PMID:11370633 PMID:12508273 PMID:16158441 PMID:20004762 PMID:20503305 PMID:20533528 PMID:20842734 PMID:21744491 PMID:22581468 PMID:22987394 PMID:25741868 PMID:26373698 PMID:26872206 PMID:26925854 PMID:28238810 PMID:28492532 NCBI chr 3:110,734,105...110,736,162
Ensembl chr 3:110,734,105...110,736,162
JBrowse link
Ehlers-Danlos syndrome musculocontractural type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dse dermatan sulfate epimerase ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, musculocontractural type 2
ClinVar Annotator: match by OMIM:615539
OMIM
ClinVar
PMID:23704329 PMID:25703627 PMID:25741868 PMID:28492532 NCBI chr20:27,703,738...27,784,982
Ensembl chr20:27,703,732...27,782,586
JBrowse link
Ehlers-Danlos syndrome spondylodysplastic type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B3galt6 Beta-1,3-galactosyltransferase 6 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:173,423,475...173,425,611
Ensembl chr 5:173,423,475...173,425,611
JBrowse link
G B4galt7 beta-1,4-galactosyltransferase 7 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 1 OMIM
ClinVar
PMID:1221956 PMID:1640425 PMID:3631078 PMID:10473568 PMID:10506123 PMID:15211654 PMID:18158310 PMID:23956117 PMID:24755949 PMID:25533962 PMID:25741868 PMID:26940150 PMID:28492532 PMID:28882145 NCBI chr17:9,549,605...9,558,672
Ensembl chr17:9,550,028...9,558,634
JBrowse link
Ehlers-Danlos syndrome spondylodysplastic type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acap3 ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, progeroid type, 2 ClinVar PMID:19492091 PMID:28492532 NCBI chr 5:173,340,060...173,354,756
Ensembl chr 5:173,340,060...173,354,755
JBrowse link
G Agrn agrin ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, progeroid type, 2 ClinVar PMID:19492091 PMID:28492532 NCBI chr 5:173,589,910...173,622,813
Ensembl chr 5:173,589,819...173,622,645
JBrowse link
G B3galt6 Beta-1,3-galactosyltransferase 6 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, progeroid type, 2 ClinVar
OMIM
PMID:19492091 PMID:23664117 PMID:24766538 PMID:25149931 PMID:25741868 PMID:27023906 PMID:28492532 PMID:28649518 PMID:29443383 PMID:29620724 PMID:29931299 NCBI chr 5:173,423,475...173,425,611
Ensembl chr 5:173,423,475...173,425,611
JBrowse link
G C1qtnf12 C1q and TNF related 12 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, progeroid type, 2 ClinVar PMID:19492091 PMID:28492532 NCBI chr 5:173,390,901...173,395,276
Ensembl chr 5:173,390,901...173,395,276
JBrowse link
G Ints11 integrator complex subunit 11 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, progeroid type, 2 ClinVar PMID:19492091 PMID:28492532 NCBI chr 5:173,318,435...173,336,930
Ensembl chr 5:173,318,479...173,336,930
JBrowse link
G Isg15 ISG15 ubiquitin-like modifier ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, progeroid type, 2 ClinVar PMID:19492091 PMID:28492532 NCBI chr 5:173,624,862...173,629,124
Ensembl chr 5:173,624,310...173,626,248
JBrowse link
G Mir200a microRNA 200a ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, progeroid type, 2 ClinVar PMID:19492091 PMID:28492532 NCBI chr 5:173,489,366...173,489,454 JBrowse link
G Mir200b microRNA 200b ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, progeroid type, 2 ClinVar PMID:19492091 PMID:28492532 NCBI chr 5:173,490,144...173,490,238
Ensembl chr 5:173,490,144...173,490,238
JBrowse link
G Mir429 microRNA 429 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, progeroid type, 2 ClinVar PMID:19492091 PMID:28492532 NCBI chr 5:173,488,331...173,488,415
Ensembl chr 5:173,488,331...173,488,415
JBrowse link
G Pusl1 pseudouridine synthase like 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, progeroid type, 2 ClinVar PMID:19492091 PMID:28492532 NCBI chr 5:173,326,755...173,339,934
Ensembl chr 5:173,336,034...173,340,026
JBrowse link
G RGD1311517 similar to RIKEN cDNA 9430015G10 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, progeroid type, 2 ClinVar PMID:19492091 PMID:28492532 NCBI chr 5:173,542,058...173,559,761
Ensembl chr 5:173,542,358...173,559,761
JBrowse link
G Rnf223 ring finger protein 223 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, progeroid type, 2 ClinVar PMID:19492091 PMID:28492532 NCBI chr 5:173,561,016...173,566,844 JBrowse link
G Sdf4 stromal cell derived factor 4 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, progeroid type, 2 ClinVar PMID:19492091 PMID:28492532 NCBI chr 5:173,425,922...173,444,478
Ensembl chr 5:173,425,907...173,444,620
JBrowse link
G Tnfrsf18 TNF receptor superfamily member 18 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, progeroid type, 2 ClinVar PMID:19492091 PMID:28492532 NCBI chr 5:173,459,371...173,463,980
Ensembl chr 5:173,460,354...173,463,140
JBrowse link
G Tnfrsf4 TNF receptor superfamily member 4 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, progeroid type, 2 ClinVar PMID:19492091 PMID:28492532 NCBI chr 5:173,447,784...173,450,474
Ensembl chr 5:173,447,784...173,450,474
JBrowse link
G Ttll10 tubulin tyrosine ligase like 10 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, progeroid type, 2 ClinVar PMID:19492091 PMID:28492532 NCBI chr 5:173,471,020...173,517,783
Ensembl chr 5:173,471,010...173,484,986
JBrowse link
G Ube2j2 ubiquitin-conjugating enzyme E2, J2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, progeroid type, 2 ClinVar PMID:19492091 PMID:28492532 NCBI chr 5:173,372,659...173,387,084
Ensembl chr 5:173,372,669...173,387,104
JBrowse link
Ehlers-Danlos syndrome spondylodysplastic type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc39a13 solute carrier family 39 member 13 ISO ClinVar Annotator: match by term: Spondylocheirodysplasia, Ehlers-Danlos syndrome-like
DNA:deletion:cds:c.483_491del9 (human)
ClinVar Annotator: match by null
ClinVar Annotator: match by OMIM:612350
OMIM
ClinVar
PMID:18513683 PMID:18985159 PMID:24033266 PMID:25741868 PMID:28492532, PMID:18513683 RGD:11553863 NCBI chr 3:79,884,524...79,892,664
Ensembl chr 3:79,884,524...79,892,429
JBrowse link
Ehlers-Danlos Syndrome Type 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col3a1 collagen type III alpha 1 chain ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 4
ClinVar Annotator: match by term: Ehlers-Danlos Syndrome Type IV
ClinVar PMID:1352273 PMID:1357232 PMID:1370809 PMID:1496983 PMID:1568754 PMID:1619632 PMID:1672129 PMID:1757960 PMID:1895316 PMID:1939638 PMID:1998337 PMID:2002056 PMID:2049575 PMID:2145268 PMID:2235526 PMID:2243125 PMID:2349939 PMID:2365710 PMID:2492273 PMID:2583342 PMID:2710295 PMID:2771024 PMID:2808425 PMID:2834369 PMID:2981879 PMID:3076851 PMID:3162228 PMID:3204406 PMID:6477831 PMID:6507506 PMID:7230200 PMID:7581395 PMID:7695699 PMID:7749417 PMID:7912131 PMID:8098182 PMID:8218237 PMID:8320698 PMID:8477261 PMID:8514866 PMID:8664902 PMID:8680408 PMID:8881656 PMID:8990011 PMID:9036918 PMID:9147870 PMID:9399899 PMID:9536098 PMID:9546243 PMID:9841712 PMID:10051163 PMID:10706896 PMID:10923041 PMID:10928898 PMID:11577371 PMID:12131463 PMID:12694234 PMID:12786757 PMID:16751282 PMID:16863833 PMID:17053184 PMID:17122455 PMID:17224388 PMID:17251678 PMID:17576681 PMID:17728513 PMID:18043893 PMID:18272325 PMID:19011090 PMID:19248182 PMID:19344236 PMID:19424605 PMID:19695909 PMID:19993915 PMID:20052764 PMID:20518783 PMID:20648054 PMID:21086191 PMID:21520333 PMID:21533953 PMID:21637106 PMID:21984974 PMID:22001912 PMID:22019127 PMID:22038052 PMID:22492385 PMID:22610159 PMID:22647446 PMID:22713205 PMID:23148498 PMID:23234825 PMID:23293852 PMID:24033266 PMID:24036952 PMID:24055113 PMID:24399159 PMID:24922459 PMID:24951259 PMID:25149929 PMID:25205403 PMID:25326637 PMID:25355833 PMID:25503501 PMID:25637381 PMID:25644172 PMID:25741868 PMID:25758994 PMID:25776230 PMID:25834947 PMID:25846194 PMID:25944730 PMID:26017485 PMID:26188975 PMID:26332594 PMID:26333736 PMID:26497932 PMID:26854089 PMID:27011056 PMID:27153395 PMID:27168972 PMID:27306637 PMID:27611364 PMID:27888582 PMID:27964749 PMID:28087566 PMID:28166811 PMID:28258187 PMID:28349240 PMID:28492532 PMID:28655553 PMID:28742248 PMID:28748566 PMID:29216800 PMID:29510914 PMID:29543232 PMID:29590070 PMID:29778910 PMID:30087447 PMID:30115950 PMID:30122538 PMID:30374176 PMID:30379966 PMID:30474650 PMID:30675029 PMID:30793832 PMID:30919682 PMID:30999998 PMID:31126764 PMID:31531849 PMID:31719132 NCBI chr 9:52,023,295...52,059,221
Ensembl chr 9:52,023,295...52,059,217
JBrowse link
G Col5a2 collagen type V alpha 2 chain ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 4 ClinVar PMID:20648054 PMID:28492532 NCBI chr 9:52,091,088...52,238,735
Ensembl chr 9:52,092,511...52,238,564
JBrowse link
G Slc40a1 solute carrier family 40 member 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 4 ClinVar PMID:20648054 PMID:28492532 NCBI chr 9:52,819,451...52,830,461
Ensembl chr 9:52,894,365...52,912,293
JBrowse link
G Wdr75 WD repeat domain 75 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 4 ClinVar PMID:20648054 PMID:28492532 NCBI chr 9:52,687,845...52,717,808
Ensembl chr 9:52,687,868...52,717,809
JBrowse link
Ehlers-Danlos Syndrome Type 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alb albumin ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, procollagen proteinase deficient ClinVar PMID:2404284 PMID:8347685 NCBI chr14:19,176,275...19,191,793
Ensembl chr14:19,176,277...19,191,863
JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, procollagen proteinase deficient ClinVar PMID:1867198 PMID:2037280 PMID:2767050 PMID:3082886 PMID:6462220 PMID:7691343 PMID:7695699 PMID:7942841 PMID:8079666 PMID:8218237 PMID:8408653 PMID:8456808 PMID:8613526 PMID:8669434 PMID:8808594 PMID:9016532 PMID:9067755 PMID:9295084 PMID:9443882 PMID:10931857 PMID:11090261 PMID:11317364 PMID:11432962 PMID:12590186 PMID:15024692 PMID:15024745 PMID:15741671 PMID:15864348 PMID:15931785 PMID:16786509 PMID:16879195 PMID:17078022 PMID:17309652 PMID:18028452 PMID:18272325 PMID:18409203 PMID:18412368 PMID:18553566 PMID:18670065 PMID:18704262 PMID:18996919 PMID:19344236 PMID:19358256 PMID:19550437 PMID:20696291 PMID:21249479 PMID:21567126 PMID:21594610 PMID:21667357 PMID:21884818 PMID:22589248 PMID:22753364 PMID:24147872 PMID:24390061 PMID:24668929 PMID:25086671 PMID:25146735 PMID:25525159 PMID:25741868 PMID:25944380 PMID:25963598 PMID:26177859 PMID:26188975 PMID:26235824 PMID:26467025 PMID:26633542 PMID:27060301 PMID:27132807 PMID:27509835 PMID:27510842 PMID:27549894 PMID:27748872 PMID:28166811 PMID:28378289 PMID:28492532 PMID:29543232 PMID:29946973 NCBI chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789
JBrowse link
G Col1a2 collagen type I alpha 2 chain ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, procollagen proteinase deficient ClinVar PMID:25441681 NCBI chr 4:31,534,225...31,569,152
Ensembl chr 4:31,534,225...31,569,151
JBrowse link
Ehlers-Danlos Syndrome Type 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C1r complement C1r ISO ClinVar Annotator: match by OMIM:130080
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 8
ClinVar
OMIM
PMID:890102 PMID:2260589 PMID:12776252 PMID:22739343 PMID:25741868 PMID:27663155 PMID:27745832 NCBI chr 4:157,126,060...157,136,825
Ensembl chr 4:157,125,998...157,136,829
JBrowse link
G C1s complement C1s ISO ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, PERIODONTOSIS TYPE ClinVar PMID:27745832 NCBI chr 4:157,143,592...157,155,592
Ensembl chr 4:157,143,592...157,155,609
JBrowse link
Ehlers-Danlos Syndrome, Periodontal Type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C1r complement C1r ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, periodontal type, 2 ClinVar PMID:890102 PMID:2260589 PMID:12776252 PMID:22739343 PMID:27663155 PMID:27745832 NCBI chr 4:157,126,060...157,136,825
Ensembl chr 4:157,125,998...157,136,829
JBrowse link
G C1s complement C1s ISO ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 2
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, periodontal type, 2
ClinVar
OMIM
PMID:25741868 PMID:27745832 NCBI chr 4:157,143,592...157,155,592
Ensembl chr 4:157,143,592...157,155,609
JBrowse link
essential thrombocythemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atg2b autophagy related 2B ISO ClinVar Annotator: match by term: Essential thrombocythemia ClinVar NCBI chr 6:129,449,451...129,519,599
Ensembl chr 6:129,449,449...129,509,720
JBrowse link
G Bdkrb1 bradykinin receptor B1 ISO ClinVar Annotator: match by term: Essential thrombocythemia ClinVar NCBI chr 6:129,437,423...129,441,553
Ensembl chr 6:129,438,158...129,440,574
JBrowse link
G Bdkrb2 bradykinin receptor B2 ISO ClinVar Annotator: match by term: Essential thrombocythemia ClinVar NCBI chr 6:129,399,468...129,429,676
Ensembl chr 6:129,399,468...129,429,676
JBrowse link
G Calr calreticulin severity ISO ClinVar Annotator: match by term: Thrombocythemia 1
DNA:mutations:multiple (human)
ClinVar Annotator: match by OMIM:187950
OMIM
ClinVar
PMID:24325356 PMID:24325359 PMID:25741868, PMID:24496303, PMID:25860380 RGD:11352751, RGD:11352747 NCBI chr19:25,956,771...25,961,666
Ensembl chr19:25,956,771...25,961,666
JBrowse link
G Cd36 CD36 molecule ISO protein:increased expression:platelet, cell surface RGD PMID:8555064 RGD:11041099 NCBI chr 4:14,150,309...14,191,498
Ensembl chr 4:14,001,761...14,249,749
JBrowse link
G Cd40lg CD40 ligand ISO protein:increased expression:serum (human) RGD PMID:22196954 RGD:11344979 NCBI chr  X:159,703,703...159,714,886
Ensembl chr  X:159,703,578...159,716,562
JBrowse link
G Cux2 cut-like homeobox 2 ISO ClinVar Annotator: match by term: Thrombocythemia 1 ClinVar PMID:20404132 NCBI chr12:40,016,774...40,221,067
Ensembl chr12:40,018,937...40,219,291
JBrowse link
G Elane elastase, neutrophil expressed ISO protein:increased expression:plasma: RGD PMID:18768782 RGD:10450556 NCBI chr 7:12,638,320...12,640,168
Ensembl chr 7:12,638,322...12,640,232
JBrowse link
G Fgf2 fibroblast growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15682418 NCBI chr 2:124,081,072...124,134,133
Ensembl chr 2:124,081,072...124,134,681
JBrowse link
G Gskip GSK3B interacting protein ISO ClinVar Annotator: match by term: Essential thrombocythemia ClinVar NCBI chr 6:129,512,950...129,536,320
Ensembl chr 6:129,519,709...129,536,221
JBrowse link
G Jak2 Janus kinase 2 severity ISO DNA:mutation: :p.V617F (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:15781101 PMID:15858187 PMID:16484586 PMID:16896569 PMID:19154659 PMID:19636672 PMID:20434300 PMID:21942426, PMID:23130336 RGD:10449178 NCBI chr 1:247,398,667...247,457,521
Ensembl chr 1:247,398,598...247,458,509
JBrowse link
G LOC100909954 uncharacterized LOC100909954 ISO ClinVar Annotator: match by term: Essential thrombocythemia ClinVar NCBI chr 6:129,259,581...129,322,113 JBrowse link
G Mpl MPL proto-oncogene, thrombopoietin receptor ISO
ISS
DNA:missense mutation:cds:pS505N (human)
ClinVar Annotator: match by term: Thrombocythemia 1
ClinVar Annotator: match by term: Essential thrombocythemia
OMIM:187950 | OMIM:300331 | OMIM:601977 | OMIM:614521
ClinVar Annotator: match by term: THROMBOCYTOSIS 1
mRNA, protein:decreased expression:blood, platelet (human)
ClinVar
MouseDO
PMID:14764528 PMID:15269348 PMID:15531462 PMID:17054430 PMID:18451306 PMID:18528423 PMID:19483125 PMID:19608689 PMID:20151976 PMID:23970983 PMID:24728327 PMID:25741868 PMID:28492532 PMID:28697167, PMID:14764528, PMID:11122159 RGD:10449014, RGD:10449016 NCBI chr 5:137,268,412...137,282,032
Ensembl chr 5:137,269,480...137,281,298
JBrowse link
G Myb MYB proto-oncogene, transcription factor ISS OMIM:187950 | OMIM:300331 | OMIM:601977 | OMIM:614521 MouseDO NCBI chr 1:16,658,178...16,690,135
Ensembl chr 1:16,659,442...16,687,817
JBrowse link
G Pdgfa platelet derived growth factor subunit A ISO CTD Direct Evidence: marker/mechanism CTD PMID:15682418 NCBI chr12:17,734,141...17,756,186
Ensembl chr12:17,734,133...17,755,285
JBrowse link
G Pdgfb platelet derived growth factor subunit B ISO CTD Direct Evidence: marker/mechanism CTD PMID:15682418 NCBI chr 7:121,215,458...121,233,092
Ensembl chr 7:121,214,628...121,232,741
JBrowse link
G Sh2b3 SH2B adaptor protein 3 ISO ClinVar Annotator: match by term: Idiopathic thrombocythemia
ClinVar Annotator: match by term: Essential thrombocythemia
ClinVar Annotator: match by OMIM:187950
OMIM
ClinVar
PMID:15705783 PMID:20404132 PMID:25741868 PMID:27651169 PMID:28484264 PMID:29590070 NCBI chr12:40,261,990...40,265,757
Ensembl chr12:40,244,081...40,265,757
JBrowse link
G Tcl1a Tcl1 family Akt coactivator A ISO ClinVar Annotator: match by term: Essential thrombocythemia ClinVar NCBI chr 6:128,888,768...128,894,761
Ensembl chr 6:128,888,768...128,894,761
JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15682418 NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
JBrowse link
G Thpo thrombopoietin ISO ClinVar Annotator: match by term: Thrombocythemia 1
ClinVar Annotator: match by OMIM:187950
DNA:mutation:splice junction:
OMIM
ClinVar
PMID:7772529 PMID:9425899 PMID:9694695 PMID:10583217 PMID:19553636 PMID:25741868 PMID:28492532, PMID:9425899 RGD:1580083 NCBI chr11:82,845,676...82,853,439
Ensembl chr11:83,868,655...83,873,910
Ensembl chr11:83,868,655...83,873,910
JBrowse link
G Vcam1 vascular cell adhesion molecule 1 ISO protein:increased expression:serum: RGD PMID:24434346 RGD:11354980 NCBI chr 2:219,071,193...219,090,931
Ensembl chr 2:219,071,193...219,097,619
JBrowse link
G Vwf von Willebrand factor ISO RGD PMID:25876231 RGD:11073823 NCBI chr 4:158,085,059...158,219,525
Ensembl chr 4:158,088,505...158,219,523
JBrowse link
Evans Syndrome, Immunodeficiency, and Premature Immunosenescence associated with Tripeptidyl-Peptidase II Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tpp2 tripeptidyl peptidase 2 ISO ClinVar Annotator: match by term: Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ClinVar PMID:9536098 PMID:17576681 PMID:25414442 PMID:25640679 PMID:28492532 PMID:30533531 NCBI chr 9:50,664,048...50,744,803
NCBI chr 9:50,578,868...50,628,943
Ensembl chr 9:50,581,234...50,744,803
JBrowse link
Factor V and Factor VIII, Combined Deficiency of, 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mcfd2 multiple coagulation factor deficiency 2, ER cargo receptor complex subunit ISO ClinVar Annotator: match by term: Factor v and factor viii, combined deficiency of, 2
DNA:missense mutation: :p.D122V (human)
ClinVar Annotator: match by OMIM:613625
OMIM
ClinVar
PMID:12717434 PMID:13229969 PMID:18391077 PMID:25741868 PMID:31064749, PMID:17610559 RGD:11062141 NCBI chr 6:10,887,303...10,899,221
Ensembl chr 6:10,887,288...10,899,200
JBrowse link
factor V deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F5 coagulation factor V ISO ClinVar Annotator: match by term: Factor V deficiency
ClinVar Annotator: match by term: PARAHEMOPHILIA
ClinVar Annotator: match by OMIM:227400
DNA:nonsense,misense mutations:cds:c.3571C>T, c.1691G>A(human)
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:7586244 PMID:7803250 PMID:7877648 PMID:7910348 PMID:7911872 PMID:7968118 PMID:8049422 PMID:8164730 PMID:8164741 PMID:8566967 PMID:8616100 PMID:8822583 PMID:9245936 PMID:9339109 PMID:9372726 PMID:9415695 PMID:9454741 PMID:9459326 PMID:9488630 PMID:9518910 PMID:9576178 PMID:9694743 PMID:9734642 PMID:10328130 PMID:10348711 PMID:10477778 PMID:10494770 PMID:10507841 PMID:10666427 PMID:10942390 PMID:11018168 PMID:11110695 PMID:11418372 PMID:11435304 PMID:11564077 PMID:11686338 PMID:11781258 PMID:11950065 PMID:12069454 PMID:12070000 PMID:12393490 PMID:12421138 PMID:12816860 PMID:14996674 PMID:15208046 PMID:15534175 PMID:15638861 PMID:15946211 PMID:16246256 PMID:16476093 PMID:16493002 PMID:16769590 PMID:16931580 PMID:19486170 PMID:19652888 PMID:19900106 PMID:20051284 PMID:20735394 PMID:21116184 PMID:21774968 PMID:22044617 PMID:22992668 PMID:23382263 PMID:23677252 PMID:23900608 PMID:24033266 PMID:25741868 PMID:25977387 PMID:26251307 PMID:26990548 PMID:28492532 PMID:28750087 PMID:31064749, PMID:11564077 RGD:11564334 NCBI chr13:82,479,997...82,535,540
Ensembl chr13:82,479,998...82,535,534
JBrowse link
G Lman1 lectin, mannose-binding, 1 ISO F5F8D, OMIM:227300
ClinVar Annotator: match by term: Factor V deficiency
ClinVar PMID:25741868, PMID:9546392 RGD:1600100 NCBI chr18:61,683,377...61,707,344
Ensembl chr18:61,685,117...61,707,317
JBrowse link
G Tfpi tissue factor pathway inhibitor ISO protein:decreased expression:plasma: RGD PMID:18695002 RGD:11060145 NCBI chr 3:71,852,738...71,902,127
Ensembl chr 3:71,852,744...71,893,618
JBrowse link
factor VII deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F10 coagulation factor X ISO ClinVar Annotator: match by term: Factor VII deficiency ClinVar PMID:10984565 PMID:12181036 PMID:25741868 NCBI chr16:81,803,169...81,822,476
Ensembl chr16:81,803,110...81,822,716
JBrowse link
G F7 coagulation factor VII ISO DNA:missense:R304Q, C310F
ClinVar Annotator: match by term: Factor VII deficiency
ClinVar Annotator: match by term: Factor VII Padua
ClinVar Annotator: match by OMIM:227500
CTD Direct Evidence: marker/mechanism
DNA:missense mutation, insertion:exon:p.R277C, g.11520-11521insT (human)
ClinVar
CTD
OMIM
PMID:1634227 PMID:2070047 PMID:6812354 PMID:7919338 PMID:7974346 PMID:7981691 PMID:8242057 PMID:8244334 PMID:8652821 PMID:8883260 PMID:8940045 PMID:8978290 PMID:9414278 PMID:9576180 PMID:9716591 PMID:10862079 PMID:10984565 PMID:11091194 PMID:11110717 PMID:11129332 PMID:11139238 PMID:11529858 PMID:11931672 PMID:12181036 PMID:12472587 PMID:12903033 PMID:12935978 PMID:15142120 PMID:15456489 PMID:15735798 PMID:18282149 PMID:18976247 PMID:19751712 PMID:20040857 PMID:20735728 PMID:20885134 PMID:20958793 PMID:21902896 PMID:22180436 PMID:22873696 PMID:24033266 PMID:25582404 PMID:25741868 PMID:25828579 PMID:25952977 PMID:26105150 PMID:28492532 PMID:31064749, PMID:1634227, PMID:26083983 RGD:1601133, RGD:11049524 NCBI chr16:81,824,610...81,834,923
Ensembl chr16:81,824,111...81,834,945
JBrowse link
factor VIII deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C3 complement C3 ISO protein:increased expression:blood RGD PMID:6912882 RGD:11041156 NCBI chr 9:9,721,137...9,747,084
Ensembl chr 9:9,721,105...9,747,167
JBrowse link
G C5 complement C5 ISO protein:increased expression:blood RGD PMID:6912882 RGD:11041156 NCBI chr 3:14,049,993...14,113,931
NCBI chr 3:14,206,466...14,229,141
Ensembl chr 3:14,049,995...14,229,080
JBrowse link
G Cd40lg CD40 ligand treatment ISO RGD PMID:11776297 RGD:11352263 NCBI chr  X:159,703,703...159,714,886
Ensembl chr  X:159,703,578...159,716,562
JBrowse link
G Cfb complement factor B ISO protein:increased expression:blood RGD PMID:6912882 RGD:11041156 NCBI chr20:4,536,206...4,542,073
Ensembl chr20:4,536,203...4,561,066
Ensembl chr20:4,536,203...4,561,066
JBrowse link
G Cfp complement factor properdin ISO protein:increased expression:blood RGD PMID:6912882 RGD:11041156 NCBI chr  X:1,311,121...1,316,683
Ensembl chr  X:1,311,121...1,316,682
JBrowse link
G F2 coagulation factor II treatment ISO RGD PMID:26635073 RGD:11565076 NCBI chr 3:80,529,468...80,542,993
Ensembl chr 3:80,529,428...80,543,031
JBrowse link
G F8 coagulation factor VIII treatment ISO
IAGP
IMP
ClinVar Annotator: match by term: Factor VIII deficiency, congenital
ClinVar Annotator: match by term: Hemophilia A, congenital
ClinVar Annotator: match by term: Hemophilia A, FVIII Deficiency
DNA,protein:missense mutation,decreased activity:exon:p.L176P(rat)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:306700
DNA:missense mutations, nonsense mutations, frameshift mutation:exon:multiple
ClinVar
CTD
OMIM
PMID:1301194 PMID:1301932 PMID:1301960 PMID:1349567 PMID:1357455 PMID:1412186 PMID:1523102 PMID:1559571 PMID:1569180 PMID:1569181 PMID:1639429 PMID:1643024 PMID:1671991 PMID:1840568 PMID:1851341 PMID:1908096 PMID:1908817 PMID:1923751 PMID:1924291 PMID:1969840 PMID:1973901 PMID:1979502 PMID:2104741 PMID:2104766 PMID:2105106 PMID:2105906 PMID:2106480 PMID:2107542 PMID:2109644 PMID:2110545 PMID:2121026 PMID:2121641 PMID:2125022 PMID:2159433 PMID:2473810 PMID:2493803 PMID:2495245 PMID:2498882 PMID:2506948 PMID:2510835 PMID:2563431 PMID:2567219 PMID:2831458 PMID:2833855 PMID:2835307 PMID:2861360 PMID:2887317 PMID:2901224 PMID:2907841 PMID:2986011 PMID:2987704 PMID:2993888 PMID:3035554 PMID:3097553 PMID:3122181 PMID:3131627 PMID:6253938 PMID:6438527 PMID:7579394 PMID:7662970 PMID:7728145 PMID:7794769 PMID:7959679 PMID:7984443 PMID:8011517 PMID:8052958 PMID:8054459 PMID:8069313 PMID:8281136 PMID:8307558 PMID:8322269 PMID:8449505 PMID:8485051 PMID:8490618 PMID:8497853 PMID:8547094 PMID:8576960 PMID:8584995 PMID:8639447 PMID:8644728 PMID:9184393 PMID:9326186 PMID:9452104 PMID:9569189 PMID:9594277 PMID:9792405 PMID:9829908 PMID:9886318 PMID:10215414 PMID:10338101 PMID:10404764 PMID:10519986 PMID:10609755 PMID:10896236 PMID:10910910 PMID:10910913 PMID:11102988 PMID:11110718 PMID:11189482 PMID:11298607 PMID:11341489 PMID:11410838 PMID:11442643 PMID:11554935 PMID:11713379 PMID:11748850 PMID:11843836 PMID:11857744 PMID:11858487 PMID:11918545 PMID:12139751 PMID:12204009 PMID:12351418 PMID:12406074 PMID:12871415 PMID:12884004 PMID:15471879 PMID:15569173 PMID:15625837 PMID:15710596 PMID:15735794 PMID:15741993 PMID:15810915 PMID:15921397 PMID:15996930 PMID:16051741 PMID:16128892 PMID:16173970 PMID:16601827 PMID:16769589 PMID:16786531 PMID:16834740 PMID:16972227 PMID:17209060 PMID:17222201 PMID:17445092 PMID:17498081 PMID:17550859 PMID:17610549 PMID:17610560 PMID:18034822 PMID:18184865 PMID:18217193 PMID:18371163 PMID:18387975 PMID:18403393 PMID:18479430 PMID:18565236 PMID:18600086 PMID:18691168 PMID:19369668 PMID:19377476 PMID:19456877 PMID:19473408 PMID:19473423 PMID:19719548 PMID:19719828 PMID:19740093 PMID:20028422 PMID:20102490 PMID:20108389 PMID:20193250 PMID:20300295 PMID:20301578 PMID:20331753 PMID:20331761 PMID:20431853 PMID:20533009 PMID:20800587 PMID:21070499 PMID:21217077 PMID:21371196 PMID:21462120 PMID:21645180 PMID:21645224 PMID:21645226 PMID:21689372 PMID:21751985 PMID:21838755 PMID:21883705 PMID:22103590 PMID:23534532 PMID:23625609 PMID:23711237 PMID:23809411 PMID:23812942 PMID:23913812 PMID:23961341 PMID:23963097 PMID:24033266 PMID:24086941 PMID:24108539 PMID:24118398 PMID:24134483 PMID:24953131 PMID:25326637 PMID:25708597 PMID:25741868 PMID:25948085 PMID:26383047 PMID:26879396 PMID:26897466 PMID:27292088 PMID:28492532 PMID:29296726 PMID:31064749 PMID:32581362, PMID:16786531, PMID:20626616, PMID:24931420, PMID:10612839, PMID:10468616 RGD:1582357, RGD:7245964, RGD:11530071, RGD:10450758, RGD:10450757 NCBI chr18:367,862...399,242
Ensembl chr18:367,862...399,242
JBrowse link
G F8em1Sage coagulation factor VIII, procoagulant component; zinc finger nuclease induced mutant1, Sage IMP RGD PMID:24931420 RGD:11530071
G F8m1Ycb coagulation factor VIII, procoagulant component; mutation 1, Ycb IAGP DNA,protein:missense mutation,decreased activity:exon:p.L176P(rat) RGD PMID:20626616 RGD:7245964
G F8a1 coagulation factor VIII-associated 1 ISO ClinVar Annotator: match by term: Hemophilia A ClinVar NCBI chr 1:147,021,436...147,022,950
Ensembl chr 1:147,021,436...147,022,950
JBrowse link
G F9 coagulation factor IX ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hemophilia A
CTD
ClinVar
PMID:1346975 PMID:1680287 PMID:1864609 PMID:1873221 PMID:1968152 PMID:2066105 PMID:2087690 PMID:2198809 PMID:2220823 PMID:2472424 PMID:2752109 PMID:2773937 PMID:2929599 PMID:3181127 PMID:5298508 PMID:6603618 PMID:7482402 PMID:7873393 PMID:8055323 PMID:8091381 PMID:8257988 PMID:8314564 PMID:8320491 PMID:8470048 PMID:8680410 PMID:8772212 PMID:9222764 PMID:9450791 PMID:10094553 PMID:10595634 PMID:10698280 PMID:10739381 PMID:11122099 PMID:11328285 PMID:12588353 PMID:15569175 PMID:15921378 PMID:16051741 PMID:16643212 PMID:19699296 PMID:22103590 PMID:22544209 PMID:22639855 PMID:23093250 PMID:25326637 PMID:25741868 PMID:28492532 PMID:29993188 PMID:31064749 PMID:32581362 NCBI chr  X:143,097,507...143,141,791
Ensembl chr  X:143,097,525...143,141,794
JBrowse link
G Fcgr2a Fc fragment of IgG receptor IIa susceptibility ISO DNA:SNP:cds:p.R131H (human) RGD PMID:24916518 RGD:11040767 NCBI chr13:91,146,878...91,163,691
Ensembl chr13:91,168,973...91,198,036
Ensembl chr13:91,168,973...91,198,036
JBrowse link
G Fundc2 FUN14 domain containing 2 ISO ClinVar Annotator: match by term: Hemophilia A ClinVar PMID:2563431 NCBI chr18:401,878...407,954
Ensembl chr18:402,295...407,954
JBrowse link
G Hmox1 heme oxygenase 1 treatment ISO DNA:repeat:promoter RGD PMID:23716558 RGD:10755564 NCBI chr19:14,508,634...14,515,455
Ensembl chr19:14,508,616...14,515,456
JBrowse link
G Ifng interferon gamma treatment ISO DNA:SNP: :+874 A>T (human) RGD PMID:25930091 RGD:11055683 NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
JBrowse link
G Il10 interleukin 10 treatment ISO DNA:SNPs, haplotypes:promoter:rs1800896 (-1082G/A), rs1800871 (-819C/T), rs1800872 (-592C/A) (human) RGD PMID:20082647 RGD:11049183 NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
JBrowse link
G Mthfr methylenetetrahydrofolate reductase severity
no_association
ISO DNA:SNP: :677C>T (human)
DNA:SNP: :1298A>C (human)
RGD PMID:22411997, PMID:22411997 RGD:10449409, RGD:10449409 NCBI chr 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
JBrowse link
G Plat plasminogen activator, tissue type treatment ISO RGD PMID:1419807 RGD:11552591 NCBI chr16:74,098,263...74,122,897
Ensembl chr16:74,098,260...74,122,889
JBrowse link
G RT1-Ba RT1 class II, locus Ba ISO RGD PMID:9157572 RGD:11041784 NCBI chr20:4,066,133...4,070,726
Ensembl chr20:4,066,132...4,070,721
JBrowse link
G Tfpi tissue factor pathway inhibitor treatment ISO RGD PMID:24263002, PMID:24687919, PMID:22355108 RGD:11060141, RGD:11060256, RGD:11060147 NCBI chr 3:71,852,738...71,902,127
Ensembl chr 3:71,852,744...71,893,618
JBrowse link
G Tgfb1 transforming growth factor, beta 1 treatment ISO DNA:polymorphism: :869T>C(rs1982037)(human) RGD PMID:25930091 RGD:11055683 NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
JBrowse link
G Vwf von Willebrand factor treatment ISO RGD PMID:25955153 RGD:11073776 NCBI chr 4:158,085,059...158,219,525
Ensembl chr 4:158,088,505...158,219,523
JBrowse link
Factor VIII Deficiency, Acquired term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F8 coagulation factor VIII ISO CTD Direct Evidence: therapeutic CTD PMID:11886462 NCBI chr18:367,862...399,242
Ensembl chr18:367,862...399,242
JBrowse link
factor X deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F10 coagulation factor X ISO DNA:point mutations:R366C;DNA:frameshift
ClinVar Annotator: match by term: Factor X deficiency
ClinVar Annotator: match by OMIM:227600
DNA:deletion:cds:c.302delG(human)
ClinVar
OMIM
PMID:1939653 PMID:1973167 PMID:1985698 PMID:2790181 PMID:7669671 PMID:7860069 PMID:8449937 PMID:8845463 PMID:8910490 PMID:10468877 PMID:10746568 PMID:10984565 PMID:12181036 PMID:25582404 PMID:25741868 PMID:26879396 PMID:28492532 PMID:29590070 PMID:31064749, PMID:2790181, PMID:22008904 RGD:1601104, RGD:11041731 NCBI chr16:81,803,169...81,822,476
Ensembl chr16:81,803,110...81,822,716
JBrowse link
G F11 coagulation factor XI ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:31064749 NCBI chr16:50,179,458...50,201,644
Ensembl chr16:50,179,458...50,201,698
JBrowse link
G F7 coagulation factor VII ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:10984565 PMID:12181036 PMID:25741868 NCBI chr16:81,824,610...81,834,923
Ensembl chr16:81,824,111...81,834,945
JBrowse link
factor XI deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp4v3 cytochrome P450, family 4, subfamily v, polypeptide 3 ISO ClinVar Annotator: match by term: Hereditary factor XI deficiency disease ClinVar PMID:32581362 NCBI chr16:50,111,803...50,136,741
Ensembl chr16:50,111,306...50,136,727
JBrowse link
G F11 coagulation factor XI ISO ClinVar Annotator: match by term: Plasma factor XI deficiency
ClinVar Annotator: match by term: Hereditary factor XI deficiency disease
ClinVar Annotator: match by OMIM:612416
DNA:nonsense mutation:exon:G263X(human)
DNA:missense, nonsense, duplication, deletion:cds:
ClinVar
OMIM
PMID:1547342 PMID:2052060 PMID:2813350 PMID:7669672 PMID:7888672 PMID:8832909 PMID:9401068 PMID:9787168 PMID:10444286 PMID:10593931 PMID:10606881 PMID:10706758 PMID:11122101 PMID:11127865 PMID:11418471 PMID:11895778 PMID:12586617 PMID:12716376 PMID:12879434 PMID:14508802 PMID:14717969 PMID:15026311 PMID:15090552 PMID:15140127 PMID:15140147 PMID:15180874 PMID:15456490 PMID:15531455 PMID:15634276 PMID:15728123 PMID:15749683 PMID:15842381 PMID:15870541 PMID:15946525 PMID:15953011 PMID:15968392 PMID:16079124 PMID:16086308 PMID:16519703 PMID:16607084 PMID:16787881 PMID:16835901 PMID:17229051 PMID:17549289 PMID:18005151 PMID:18024374 PMID:18327400 PMID:18388506 PMID:18446632 PMID:18515884 PMID:18758779 PMID:18832909 PMID:18839438 PMID:19367158 PMID:19652879 PMID:20015217 PMID:20398070 PMID:20523169 PMID:21192253 PMID:21457405 PMID:21649796 PMID:21668437 PMID:21718436 PMID:21824284 PMID:22016685 PMID:22159456 PMID:22197449 PMID:23305485 PMID:23315997 PMID:23332144 PMID:23929304 PMID:24033266 PMID:24112640 PMID:24982842 PMID:25074526 PMID:25158988 PMID:25681615 PMID:25741868 PMID:25741869 PMID:26558335 PMID:26879396 PMID:27067486 PMID:27710856 PMID:27723456 PMID:28492532 PMID:28960694 PMID:31064749 PMID:32581362, PMID:2813350, PMID:10706758, PMID:11127865 RGD:1598923, RGD:11041742, RGD:11041741 NCBI chr16:50,179,458...50,201,644
Ensembl chr16:50,179,458...50,201,698
JBrowse link
G Klkb1 kallikrein B1 ISO ClinVar Annotator: match by term: Hereditary factor XI deficiency disease ClinVar PMID:32581362 NCBI chr16:50,151,127...50,175,407
Ensembl chr16:50,152,008...50,175,458
JBrowse link
factor XII deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F12 coagulation factor XII ISO DNA:missense:exon:C571S
ClinVar Annotator: match by term: Factor 12 deficiency
ClinVar Annotator: match by term: Factor XII deficiency disease
ClinVar Annotator: match by term: Hageman factor deficiency
DNA:deletion mutations, transversion mutation:introns, exon:
DNA:missense, nonsense, deletion mutations:cds:
DNA:polymorphism:promoter:-46C>T(human)
ClinVar
OMIM
PMID:8528215 PMID:9354665 PMID:9490684 PMID:10361128 PMID:10984376 PMID:11843842 PMID:16638441 PMID:17186468 PMID:17825897 PMID:18974842 PMID:19178938 PMID:19474702 PMID:19786295 PMID:19933701 PMID:20303064 PMID:20490261 PMID:21264442 PMID:21690105 PMID:21920016 PMID:23188048 PMID:23348723 PMID:24029428 PMID:24033266 PMID:25524745 PMID:25741868 PMID:25744496 PMID:25790805 PMID:26286125 PMID:28492532, PMID:2510163, PMID:18024408, PMID:20386432, PMID:11248286 RGD:1601107, RGD:11041805, RGD:11041772, RGD:11041769 NCBI chr17:9,736,577...9,744,420
Ensembl chr17:9,736,577...9,744,420
JBrowse link
G Slc34a1 solute carrier family 34 member 1 ISO ClinVar Annotator: match by term: Hageman factor deficiency
ClinVar Annotator: match by term: Factor 12 deficiency
ClinVar Annotator: match by term: Factor XII deficiency disease
ClinVar PMID:8528215 PMID:9354665 PMID:9490684 PMID:10361128 PMID:10984376 PMID:11843842 PMID:16638441 PMID:17186468 PMID:17825897 PMID:18974842 PMID:19178938 PMID:19474702 PMID:19786295 PMID:19933701 PMID:20303064 PMID:20490261 PMID:21264442 PMID:21690105 PMID:21920016 PMID:23188048 PMID:23348723 PMID:24029428 PMID:24033266 PMID:25524745 PMID:25741868 PMID:25744496 PMID:25790805 PMID:26286125 PMID:28492532 NCBI chr17:9,747,766...9,762,739
Ensembl chr17:9,747,752...9,762,813
JBrowse link
factor XIII deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F13a1 coagulation factor XIII A1 chain ISO DNA:nonsense mutation:intron:
ClinVar Annotator: match by term: Hereditary factor XIII deficiency disease
CTD Direct Evidence: marker/mechanism
DNA:polymorphism:intron:IVS1+12C>A(human)
DNA:insertion, missense mutation:cds:
DNA:nonsense mutations, missense mutations:cds:
DNA:mutation:cds:p.R703W(human)
ClinVar
CTD
PMID:1644910 PMID:31136071, PMID:21512576, PMID:23508224, PMID:19937244, PMID:20179087, PMID:19438481 RGD:10450726, RGD:11041869, RGD:10450730, RGD:10450729, RGD:10450727 NCBI chr17:28,504,650...28,680,015
Ensembl chr17:28,504,623...28,680,362
JBrowse link
G F13b coagulation factor XIII B chain ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Factor XIII deficiency
CTD
ClinVar
PMID:2334637 PMID:25741868 NCBI chr13:56,598,891...56,623,132
Ensembl chr13:56,598,957...56,623,124
JBrowse link
G Lman1 lectin, mannose-binding, 1 ISO F5F8D, OMIM:227300 RGD PMID:9546392 RGD:1600100 NCBI chr18:61,683,377...61,707,344
Ensembl chr18:61,685,117...61,707,317
JBrowse link
Factor XIII, A Subunit, Deficiency Of term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F13a1 coagulation factor XIII A1 chain ISO ClinVar Annotator: match by term: Factor XIII subunit A deficiency
DNA:deletions, mutation: exons, splice site:c.980G>A (R326Q),c.1112+2T>C,c.215 delA)
DNA:nonsense, missense mutations:exons:p.R661X,p.T242M(human)
OMIM
ClinVar
PMID:1353995 PMID:1644910 PMID:7236530 PMID:7727776 PMID:7918041 PMID:8025280 PMID:8547636 PMID:9459313 PMID:9531026 PMID:9531593 PMID:9550516 PMID:9712293 PMID:9920838 PMID:10027709 PMID:10365735 PMID:10910914 PMID:11167856 PMID:11380452 PMID:11692020 PMID:12072871 PMID:12100162 PMID:12456499 PMID:14695539 PMID:16763156 PMID:17393027 PMID:19438481 PMID:20179087 PMID:21512576 PMID:21633364 PMID:22995991 PMID:24118344 PMID:24194833 PMID:25741868 PMID:26503545 PMID:28492532 PMID:28520207 PMID:31064749, PMID:24118344, PMID:8025280 RGD:11041856, RGD:11041811 NCBI chr17:28,504,650...28,680,015
Ensembl chr17:28,504,623...28,680,362
JBrowse link
Factor XIII, B Subunit, Deficiency Of term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F13b coagulation factor XIII B chain ISO ClinVar Annotator: match by term: Factor XIII, b subunit, deficiency of
ClinVar Annotator: match by term: Factor xiii, b subunit, deficiency of
ClinVar Annotator: match by OMIM:613235
DNA:mutations:multiple:
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:2334637 PMID:8324218 PMID:8639893 PMID:11313256 PMID:12456499 PMID:14695539 PMID:16241947 PMID:25741868 PMID:28492532, PMID:20331752 RGD:10450738 NCBI chr13:56,598,891...56,623,132
Ensembl chr13:56,598,957...56,623,124
JBrowse link
Familial Cerebral Cavernous Malformation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace angiotensin I converting enzyme ISO DNA:deletion:intron:IVS16+1464-1751del (human) RGD PMID:20488708 RGD:11039024 NCBI chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
JBrowse link
G Cand2 cullin-associated and neddylation-dissociated 2 (putative) ISO RGD PMID:31426861 RGD:18899564 NCBI chr 4:147,686,487...147,714,593
Ensembl chr 4:147,686,490...147,714,585
JBrowse link
Familial Mixed Cryoglobulinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fcgr3a Fc fragment of IgG receptor IIIa treatment ISO DNA:polymorphism: :p.V176F (human) RGD PMID:21538321 RGD:11344956 NCBI chr13:89,385,775...89,396,047
Ensembl chr13:89,385,859...89,396,051
JBrowse link
Familial Multiple Coagulation Factor Deficiency I term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lman1 lectin, mannose-binding, 1 ISO ClinVar Annotator: match by term: FMFD I
ClinVar Annotator: match by term: Combined deficiency of factor V and factor VIII, 1
ClinVar Annotator: match by OMIM:227300
OMIM
ClinVar
PMID:9045860 PMID:9546392 PMID:18391077 PMID:25741868 PMID:31064749 NCBI chr18:61,683,377...61,707,344
Ensembl chr18:61,685,117...61,707,317
JBrowse link
G Mcfd2 multiple coagulation factor deficiency 2, ER cargo receptor complex subunit ISO ClinVar Annotator: match by term: Combined deficiency of factor V and factor VIII, 1
ClinVar Annotator: match by term: FMFD I
ClinVar PMID:12717434 PMID:13229969 PMID:25741868 PMID:31064749 NCBI chr 6:10,887,303...10,899,221
Ensembl chr 6:10,887,288...10,899,200
JBrowse link
Familial Platelet Disorder with Associated Myeloid Malignancy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Runx1 RUNX family transcription factor 1 ISO ClinVar Annotator: match by term: Familial platelet disorder with associated myeloid malignancy
ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
ClinVar Annotator: match by term: Platelet disorder, Aspirin-like
OMIM
ClinVar
PMID:9536098 PMID:9837750 PMID:10068652 PMID:10508512 PMID:10594034 PMID:11276260 PMID:11830488 PMID:12060124 PMID:12172547 PMID:12200707 PMID:12377125 PMID:12393679 PMID:12807882 PMID:14504086 PMID:15156185 PMID:15749889 PMID:17234761 PMID:17290219 PMID:17485549 PMID:17576681 PMID:17650443 PMID:18478040 PMID:18723428 PMID:19357396 PMID:19387465 PMID:19808697 PMID:20549580 PMID:20846103 PMID:20880108 PMID:20955399 PMID:22012064 PMID:22318203 PMID:22689681 PMID:23751892 PMID:23753029 PMID:23817177 PMID:23848403 PMID:24100448 PMID:24374719 PMID:24523240 PMID:24616160 PMID:24659740 PMID:24732596 PMID:24764152 PMID:24904105 PMID:25159113 PMID:25640679 PMID:25741868 PMID:25840971 PMID:26175287 PMID:26316320 PMID:26580448 PMID:26884589 PMID:27112265 PMID:27137476 PMID:27210295 PMID:27294619 PMID:27418648 PMID:27479822 PMID:28179279 PMID:28231333 PMID:28240786 PMID:28492532 PMID:28513614 PMID:28659335 PMID:28748566 PMID:28855357 PMID:28933735 PMID:28960434 PMID:29146883 PMID:29365323 PMID:29666006 PMID:30990344 PMID:31034769 PMID:31064749 PMID:31309983 PMID:31470354 PMID:32051554 PMID:32581362 NCBI chr11:32,765,147...33,003,061
Ensembl chr11:32,769,165...33,003,021
JBrowse link
Giant Platelet Syndrome with Thrombocytopenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myh9 myosin, heavy chain 9 ISO ClinVar Annotator: match by term: Giant platelet syndrome with thrombocytopenia ClinVar PMID:10739770 PMID:10973259 PMID:10973260 PMID:11590545 PMID:25741868 PMID:29090586 NCBI chr 7:118,740,005...118,792,507
Ensembl chr 7:118,741,110...118,792,625
JBrowse link
Glanzmann's thrombasthenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Itga2 integrin subunit alpha 2 severity ISO RGD PMID:14687991 RGD:1582297 NCBI chr 2:46,996,904...47,097,011
Ensembl chr 2:47,000,323...47,096,961
JBrowse link
G Itga2b integrin subunit alpha 2b ISO ClinVar Annotator: match by term: Glanzmann thrombasthenia
ClinVar Annotator: match by term: BLEEDING DISORDER, PLATELET-TYPE, 2
ClinVar Annotator: match by term: Glanzmann's thrombasthenia
DNA:deletion:exon
DNA:insertion/deletion:exon
ClinVar Annotator: match by OMIM:273800
OMIM
ClinVar
PMID:1317725 PMID:1638023 PMID:1702098 PMID:1926040 PMID:2014236 PMID:7508443 PMID:7620188 PMID:7706461 PMID:8282784 PMID:8704171 PMID:8883261 PMID:9215749 PMID:9473221 PMID:9722314 PMID:9734640 PMID:9763559 PMID:9834222 PMID:9920835 PMID:10607701 PMID:11091187 PMID:11798398 PMID:12008952 PMID:12083483 PMID:12181054 PMID:12424194 PMID:12487785 PMID:15099289 PMID:15748238 PMID:15886807 PMID:16463284 PMID:16722529 PMID:16879215 PMID:17488698 PMID:18422845 PMID:18791937 PMID:19170775 PMID:19172520 PMID:19339519 PMID:19691478 PMID:20020534 PMID:20492470 PMID:21113249 PMID:21454453 PMID:21487445 PMID:21557682 PMID:21917754 PMID:22102273 PMID:22190468 PMID:22250950 PMID:22394243 PMID:22513797 PMID:22738334 PMID:23305224 PMID:24418945 PMID:25373348 PMID:25539746 PMID:25728920 PMID:25741868 PMID:25827233 PMID:26096001 PMID:27607598 PMID:27696190 PMID:28232155 PMID:28492532 PMID:28888044 PMID:28983057 PMID:29090484 PMID:29675921 PMID:29884513 PMID:30792900 PMID:31064749 PMID:31119735 PMID:32139434 PMID:32237906