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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: ABNORMAL BLEEDING;   hemorrhagic diatheses;   hemorrhagic diathesis;   hemorrhagic disorder;   hemorrhagic disorders
 primary_id: MESH:D006474
 xref: ICD10CM:D69.9;   ICD9CM:287.9;   MONDO:0002243
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: Abnormal bleeding ClinVar NCBI chr 6:9,965,118...9,990,563
Ensembl chr 6:9,965,118...9,990,563 		JBrowse link
G Abcg8 ATP binding cassette subfamily G member 8 ISO ClinVar Annotator: match by term: Abnormal bleeding ClinVar PMID:25741868 PMID:28492532 PMID:32935436 NCBI chr 6:9,945,629...9,964,912
Ensembl chr 6:9,945,629...9,964,912 		JBrowse link
G Actn1 actinin, alpha 1 ISO ClinVar Annotator: match by term: Abnormal bleeding ClinVar PMID:25741868 PMID:31064749 NCBI chr 6:98,998,553...99,093,334
Ensembl chr 6:98,998,556...99,093,251 		JBrowse link
G Acvrl1 activin A receptor like type 1 ISO ClinVar Annotator: match by term: Abnormal bleeding ClinVar PMID:20501893 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 7:132,239,200...132,256,592
Ensembl chr 7:132,239,729...132,256,591 		JBrowse link
G Adamts13 ADAM metallopeptidase with thrombospondin type 1 motif, 13 ISO ClinVar Annotator: match by term: Abnormal bleeding ClinVar NCBI chr 3:10,299,264...10,338,464
Ensembl chr 3:10,300,028...10,346,687 		JBrowse link
G Ankrd26 ankyrin repeat domain containing 26 ISO ClinVar Annotator: match by term: Abnormal bleeding ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:151,670,604...151,740,032
Ensembl chr 4:151,672,037...151,739,968 		JBrowse link
G Ap3b1 adaptor related protein complex 3 subunit beta 1 ISO ClinVar Annotator: match by term: Abnormal bleeding ClinVar PMID:25741868 PMID:28492532 PMID:32935436 NCBI chr 2:25,600,069...25,800,937
Ensembl chr 2:25,600,040...25,800,935 		JBrowse link
G Ap3d1 adaptor related protein complex 3 subunit delta 1 ISO ClinVar Annotator: match by term: Abnormal bleeding ClinVar PMID:25741868 PMID:28492532 PMID:32935436 PMID:36430862 NCBI chr 7:8,970,249...9,005,651
Ensembl chr 7:8,970,291...9,005,643 		JBrowse link
G Arpc1b actin related protein 2/3 complex, subunit 1B ISO ClinVar Annotator: match by term: Abnormal bleeding ClinVar PMID:25741868 PMID:28492532 NCBI chr12:9,482,176...9,495,772
Ensembl chr12:9,480,831...9,495,747 		JBrowse link
G Arvcf ARVCF, delta catenin family member ISO ClinVar Annotator: match by term: Abnormal bleeding ClinVar PMID:25741868 PMID:31064749 NCBI chr11:82,588,137...82,645,832
Ensembl chr11:82,587,881...82,645,805 		JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Abnormal bleeding ClinVar PMID:25741868 PMID:31064749 NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624 		JBrowse link
G Col5a1 collagen type V alpha 1 chain ISO ClinVar Annotator: match by term: Abnormal bleeding ClinVar PMID:25741868 PMID:28492532 PMID:29924831 PMID:31064749 PMID:32938213 NCBI chr 3:11,208,429...11,356,715
Ensembl chr 3:11,208,512...11,354,588 		JBrowse link
G Col5a2 collagen type V alpha 2 chain ISO ClinVar Annotator: match by term: Abnormal bleeding ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:47,448,741...47,598,134
Ensembl chr 9:47,448,736...47,598,154 		JBrowse link
G Comt catechol-O-methyltransferase ISO ClinVar Annotator: match by term: Abnormal bleeding ClinVar PMID:25741868 PMID:31064749 NCBI chr11:82,568,052...82,587,642
Ensembl chr11:82,568,025...82,587,642 		JBrowse link
G Cycs cytochrome c, somatic ISO ClinVar Annotator: match by term: Abnormal bleeding ClinVar NCBI chr 4:79,651,894...79,653,994
Ensembl chr 4:79,651,378...79,654,054
Ensembl chr18:79,651,378...79,654,054 		JBrowse link
G Dgcr8 DGCR8 microprocessor complex subunit ISO ClinVar Annotator: match by term: Abnormal bleeding ClinVar PMID:25741868 PMID:31064749 NCBI chr11:82,704,673...82,737,251
Ensembl chr11:82,704,729...82,737,242 		JBrowse link
G Dync2li1 dynein cytoplasmic 2 light intermediate chain 1 ISO ClinVar Annotator: match by term: Abnormal bleeding ClinVar NCBI chr 6:9,992,537...10,025,355
Ensembl chr 6:9,992,541...10,025,336 		JBrowse link
G Etv6 ETS variant transcription factor 6 ISO ClinVar Annotator: match by term: Abnormal bleeding ClinVar PMID:25741868 NCBI chr 4:166,849,031...167,085,211
Ensembl chr 4:166,847,686...167,084,992 		JBrowse link
G F10 coagulation factor X ISO ClinVar Annotator: match by term: Abnormal bleeding ClinVar PMID:7669671 PMID:25582404 PMID:25741868 PMID:26879396 PMID:31064749 NCBI chr16:76,468,834...76,488,141
Ensembl chr16:76,468,838...76,488,141 		JBrowse link
G F11 coagulation factor XI ISO ClinVar Annotator: match by term: Abnormal bleeding ClinVar PMID:2052060 PMID:2813350 PMID:9326232 PMID:10593931 PMID:11122101 More... NCBI chr16:46,987,988...47,009,015
Ensembl chr16:46,986,107...47,008,437 		JBrowse link
G F13a1 coagulation factor XIII A1 chain ISO ClinVar Annotator: match by term: Abnormal bleeding ClinVar NCBI chr17:27,815,723...27,992,494
Ensembl chr17:27,815,702...27,992,700 		JBrowse link
G F5 coagulation factor V ISO ClinVar Annotator: match by term: Abnormal bleeding ClinVar PMID:25741868 PMID:28492532 PMID:31064749 PMID:34355501 NCBI chr13:76,513,509...76,583,106
Ensembl chr13:76,513,255...76,582,317 		JBrowse link
G F7 coagulation factor VII ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Abnormal bleeding		 CTD
ClinVar		 PMID:7919338 PMID:7981691 PMID:10862079 PMID:11931672 PMID:15456489 More... NCBI chr16:76,489,775...76,500,636
Ensembl chr16:76,489,717...76,500,610 		JBrowse link
G F8 coagulation factor VIII ISO ClinVar Annotator: match by term: Abnormal bleeding ClinVar PMID:12871415 PMID:21166991 PMID:22103590 PMID:23926300 PMID:25741868 More... NCBI chr18:140,848...172,330
Ensembl chr18:140,955...171,857 		JBrowse link
G Fga fibrinogen alpha chain ISO ClinVar Annotator: match by term: Abnormal bleeding ClinVar PMID:2738154 PMID:3345340 PMID:3590111 PMID:3618591 PMID:4052020 More... NCBI chr 2:168,374,120...168,381,523
Ensembl chr 2:168,374,120...168,381,528 		JBrowse link
G Fgb fibrinogen beta chain ISO ClinVar Annotator: match by term: Abnormal bleeding ClinVar PMID:10688828 PMID:19420351 PMID:20978265 PMID:24033266 PMID:25741868 More... NCBI chr 2:168,394,901...168,402,863
Ensembl chr 2:168,394,916...168,405,979 		JBrowse link
G Fgg fibrinogen gamma chain ISO ClinVar Annotator: match by term: Abnormal bleeding ClinVar PMID:10688828 PMID:15795540 PMID:17938819 PMID:19300242 PMID:20135062 More... NCBI chr 2:168,354,880...168,362,325
Ensembl chr 2:168,355,013...168,362,322 		JBrowse link
G Fli1 Fli-1 proto-oncogene, ETS transcription factor ISO ClinVar Annotator: match by term: Abnormal bleeding ClinVar PMID:24100448 PMID:32581362 NCBI chr 8:30,831,422...30,950,468
Ensembl chr 8:30,832,753...30,950,433 		JBrowse link
G Flna filamin A ISO ClinVar Annotator: match by term: Abnormal bleeding ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr  X:152,007,758...152,034,266
Ensembl chr  X:152,007,758...152,031,052 		JBrowse link
G Gba1 glucosylceramidase beta 1 ISO ClinVar Annotator: match by term: Abnormal bleeding ClinVar PMID:1348297 PMID:1897529 PMID:1899336 PMID:1971142 PMID:2117855 More... NCBI chr 2:174,609,437...174,615,457
Ensembl chr 2:174,609,403...174,618,263 		JBrowse link
G Gfi1b growth factor independent 1B transcriptional repressor ISO ClinVar Annotator: match by term: Abnormal bleeding ClinVar NCBI chr 3:11,940,232...11,952,989
Ensembl chr 3:11,940,233...11,952,942 		JBrowse link
G Ggcx gamma-glutamyl carboxylase ISO ClinVar Annotator: match by term: Abnormal bleeding ClinVar
RGD		 PMID:25741868 PMID:28492532 PMID:32935436 PMID:24520408 RGD:11040512 NCBI chr 4:104,469,737...104,485,631
Ensembl chr 4:104,469,765...104,487,063 		JBrowse link
G Gnas GNAS complex locus ISO CTD Direct Evidence: marker/mechanism CTD PMID:11583302 NCBI chr 3:163,071,003...163,136,350
Ensembl chr 3:163,071,417...163,127,262
Ensembl chr 3:163,071,417...163,127,262 		JBrowse link
G Gnb1l G protein subunit beta 1 like ISO ClinVar Annotator: match by term: Abnormal bleeding ClinVar PMID:25741868 PMID:31064749 NCBI chr11:82,425,301...82,507,836
Ensembl chr11:82,432,627...82,507,466 		JBrowse link
G Gp1ba glycoprotein Ib platelet subunit alpha ISO ClinVar Annotator: match by term: Abnormal bleeding ClinVar PMID:25741868 NCBI chr10:55,352,938...55,355,804
Ensembl chr10:55,352,899...55,356,774 		JBrowse link
G Gp1bb glycoprotein Ib platelet subunit beta ISO ClinVar Annotator: match by term: Abnormal bleeding ClinVar PMID:25741868 PMID:31064749 NCBI chr11:82,378,216...82,379,393
Ensembl chr11:82,378,199...82,379,392 		JBrowse link
G Gp6 glycoprotein VI ISO ClinVar Annotator: match by term: Abnormal bleeding ClinVar PMID:19549989 PMID:25741868 PMID:28492532 PMID:29232918 PMID:31064749 More... NCBI chr 1:69,429,232...69,492,709
Ensembl chr 1:69,465,789...69,491,326 		JBrowse link
G Hoxa11 homeobox A11 ISO ClinVar Annotator: match by term: Abnormal bleeding ClinVar NCBI chr 4:81,342,527...81,346,189
Ensembl chr 4:81,342,528...81,346,232 		JBrowse link
G Hps3 HPS3, biogenesis of lysosomal organelles complex 2 subunit 1 ISO ClinVar Annotator: match by term: Abnormal bleeding ClinVar NCBI chr 2:102,484,574...102,527,580
Ensembl chr 2:102,484,574...102,526,047 		JBrowse link
G Hps5 HPS5, biogenesis of lysosomal organelles complex 2 subunit 2 ISO ClinVar Annotator: match by term: Abnormal bleeding ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 1:97,281,626...97,320,945
Ensembl chr 1:97,247,598...97,321,019 		JBrowse link
G Hps6 HPS6, biogenesis of lysosomal organelles complex 2 subunit 3 ISO ClinVar Annotator: match by term: Abnormal bleeding ClinVar PMID:28492532 NCBI chr 1:244,853,256...244,855,865
Ensembl chr 1:244,853,194...244,855,883 		JBrowse link
G Hrg histidine-rich glycoprotein ISO ClinVar Annotator: match by term: Abnormal bleeding ClinVar NCBI chr11:78,054,488...78,069,402
Ensembl chr11:78,054,498...78,069,389 		JBrowse link
G Itga2b integrin subunit alpha 2b ISO ClinVar Annotator: match by term: Abnormal bleeding ClinVar NCBI chr10:87,408,532...87,426,055
Ensembl chr10:87,408,536...87,426,168 		JBrowse link
G Itgb3 integrin subunit beta 3 ISO ClinVar Annotator: match by term: Abnormal bleeding ClinVar PMID:25741868 PMID:28492532 PMID:31064749 NCBI chr10:89,509,917...89,564,679
Ensembl chr10:89,509,989...89,564,679 		JBrowse link
G Klhl22 kelch-like family member 22 ISO ClinVar Annotator: match by term: Abnormal bleeding ClinVar PMID:25741868 PMID:31064749 NCBI chr11:83,190,891...83,231,746
Ensembl chr11:83,190,891...83,231,770 		JBrowse link
G Klkb1 kallikrein B1 ISO ClinVar Annotator: match by term: Abnormal bleeding ClinVar PMID:25741868 NCBI chr16:46,958,634...46,982,054
Ensembl chr16:46,958,707...46,982,053 		JBrowse link
G Lyst lysosomal trafficking regulator ISO ClinVar Annotator: match by term: Abnormal bleeding ClinVar PMID:9215679 PMID:11857544 PMID:25741868 PMID:28492532 PMID:32935436 NCBI chr17:86,241,384...86,443,501
Ensembl chr17:86,241,384...86,443,480 		JBrowse link
G Mcfd2 multiple coagulation factor deficiency 2, ER cargo receptor complex subunit ISO ClinVar Annotator: match by term: Abnormal bleeding ClinVar PMID:25741868 NCBI chr 6:7,274,469...7,285,841
Ensembl chr 6:7,274,469...7,285,841 		JBrowse link
G Mecom MDS1 and EVI1 complex locus ISO ClinVar Annotator: match by term: Abnormal bleeding ClinVar PMID:25741868 PMID:28492532 PMID:32935436 NCBI chr 2:112,909,353...113,464,583
Ensembl chr 2:112,909,321...113,464,590 		JBrowse link
G Med12l mediator complex subunit 12L ISO ClinVar Annotator: match by term: Abnormal bleeding ClinVar NCBI chr 2:143,253,048...143,576,507
Ensembl chr 2:143,252,139...143,573,741 		JBrowse link
G Med15 mediator complex subunit 15 ISO ClinVar Annotator: match by term: Abnormal bleeding ClinVar PMID:25741868 PMID:31064749 NCBI chr11:83,280,722...83,356,006
Ensembl chr11:83,280,762...83,355,362 		JBrowse link
G Mpig6b megakaryocyte and platelet inhibitory receptor G6b ISO ClinVar Annotator: match by term: Abnormal bleeding ClinVar NCBI chr20:3,757,396...3,761,024
Ensembl chr20:3,757,536...3,760,735 		JBrowse link
G Mpl MPL proto-oncogene, thrombopoietin receptor ISO ClinVar Annotator: match by term: Abnormal bleeding ClinVar PMID:11972523 PMID:16470591 PMID:21659346 PMID:24728327 PMID:25741868 More... NCBI chr 5:131,973,895...131,987,472
Ensembl chr 5:131,973,895...131,986,797 		JBrowse link
G Myh9 myosin, heavy chain 9 ISO ClinVar Annotator: match by term: Abnormal bleeding ClinVar PMID:10739770 PMID:10973259 PMID:10973260 PMID:11159552 PMID:11590545 More... NCBI chr 7:109,343,718...109,424,457
Ensembl chr 7:109,343,706...109,424,457 		JBrowse link
G Nbea neurobeachin ISO ClinVar Annotator: match by term: Abnormal bleeding ClinVar NCBI chr 2:139,780,021...140,338,639
Ensembl chr 2:139,780,021...140,340,584 		JBrowse link
G Nbeal2 neurobeachin-like 2 ISO ClinVar Annotator: match by term: Abnormal bleeding ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:110,603,220...110,633,612
Ensembl chr 8:110,599,389...110,633,707 		JBrowse link
G P2ry12 purinergic receptor P2Y12 ISO ClinVar Annotator: match by term: Abnormal bleeding ClinVar NCBI chr 2:143,481,468...143,523,340
Ensembl chr 2:143,481,430...143,523,361 		JBrowse link
G Pcid2 PCI domain containing 2 ISO ClinVar Annotator: match by term: Abnormal bleeding ClinVar NCBI chr16:76,423,245...76,448,712
Ensembl chr16:76,423,245...76,448,712 		JBrowse link
G Pi4ka phosphatidylinositol 4-kinase alpha ISO ClinVar Annotator: match by term: Abnormal bleeding ClinVar PMID:25741868 PMID:31064749 NCBI chr11:83,609,148...83,726,876
Ensembl chr11:83,609,069...83,724,080 		JBrowse link
G Plat plasminogen activator, tissue type ISO ClinVar Annotator: match by term: Abnormal bleeding ClinVar PMID:25741868 NCBI chr16:69,240,582...69,265,177
Ensembl chr16:69,240,585...69,268,223 		JBrowse link
G Plg plasminogen ISO ClinVar Annotator: match by term: Abnormal bleeding ClinVar PMID:25741868 PMID:28492532 PMID:34355501 NCBI chr 1:48,325,186...48,367,643
Ensembl chr 1:48,325,185...48,367,786 		JBrowse link
G Pros1 protein S ISO ClinVar Annotator: match by term: Abnormal bleeding ClinVar PMID:8943854 PMID:9651142 PMID:20880255 PMID:25741868 PMID:28492532 More... NCBI chr11:230,597...311,288
Ensembl chr11:230,696...311,286 		JBrowse link
G Proz protein Z, vitamin K-dependent plasma glycoprotein ISO ClinVar Annotator: match by term: Abnormal bleeding ClinVar NCBI chr16:76,450,013...76,463,558
Ensembl chr16:76,450,013...76,463,480 		JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO ClinVar Annotator: match by term: Abnormal bleeding ClinVar PMID:4746100 PMID:11704759 PMID:11992261 PMID:12161469 PMID:12634870 More... NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925 		JBrowse link
G Ranbp1 RAN binding protein 1 ISO ClinVar Annotator: match by term: Abnormal bleeding ClinVar PMID:25741868 PMID:31064749 NCBI chr11:82,742,603...82,750,836
Ensembl chr11:82,742,600...82,750,838 		JBrowse link
G Rasgrp2 RAS guanyl releasing protein 2 ISO ClinVar Annotator: match by term: Abnormal bleeding ClinVar PMID:25741868 PMID:28983057 PMID:31064749 NCBI chr 1:203,705,777...203,722,993
Ensembl chr 1:203,707,481...203,722,993 		JBrowse link
G Rtn4r reticulon 4 receptor ISO ClinVar Annotator: match by term: Abnormal bleeding ClinVar PMID:25741868 PMID:31064749 NCBI chr11:82,844,309...82,869,251
Ensembl chr11:82,844,309...82,869,466 		JBrowse link
G Runx1 RUNX family transcription factor 1 ISO ClinVar Annotator: match by term: Abnormal bleeding ClinVar PMID:10068652 PMID:11830488 PMID:12002768 PMID:17485549 PMID:17650443 More... NCBI chr11:31,839,880...32,074,427
Ensembl chr11:31,843,764...32,074,542 		JBrowse link
G Scarf2 scavenger receptor class F, member 2 ISO ClinVar Annotator: match by term: Abnormal bleeding ClinVar PMID:25741868 PMID:31064749 NCBI chr11:83,175,956...83,187,415
Ensembl chr11:83,175,963...83,187,348 		JBrowse link
G Septin5 septin 5 ISO ClinVar Annotator: match by term: Abnormal bleeding ClinVar PMID:25741868 PMID:31064749 NCBI chr11:82,373,601...82,379,393
Ensembl chr11:82,369,754...82,379,393 		JBrowse link
G Serpinc1 serpin family C member 1 ISO ClinVar Annotator: match by term: Abnormal bleeding ClinVar PMID:1906811 PMID:2012760 PMID:25741868 PMID:28492532 NCBI chr13:73,257,208...73,271,476
Ensembl chr13:73,257,179...73,284,293 		JBrowse link
G Serpind1 serpin family D member 1 ISO ClinVar Annotator: match by term: Abnormal bleeding ClinVar PMID:25741868 PMID:31064749 NCBI chr11:83,664,517...83,675,593
Ensembl chr11:83,664,518...83,675,519 		JBrowse link
G Serpine1 serpin family E member 1 ISO ClinVar Annotator: match by term: Abnormal bleeding ClinVar PMID:25741868 PMID:31064749 NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657 		JBrowse link
G Serpinf2 serpin family F member 2 ISO ClinVar Annotator: match by term: Abnormal bleeding ClinVar PMID:25741868 PMID:31064749 NCBI chr10:60,272,400...60,280,506
Ensembl chr10:60,272,400...60,281,243 		JBrowse link
G Slc45a2 solute carrier family 45, member 2 ISO ClinVar Annotator: match by term: Abnormal bleeding ClinVar PMID:28492532 PMID:29345414 NCBI chr 2:59,963,599...59,996,408
Ensembl chr 2:59,963,706...59,996,317 		JBrowse link
G Slfn14 schlafen family member 14 ISO ClinVar Annotator: match by term: Abnormal bleeding ClinVar PMID:26280575 PMID:32581362 PMID:36790527 NCBI chr10:68,076,326...68,087,794 JBrowse link
G Smad4 SMAD family member 4 ISO ClinVar Annotator: match by term: Abnormal bleeding ClinVar NCBI chr18:67,243,742...67,274,438
Ensembl chr18:67,243,742...67,274,438 		JBrowse link
G Stxbp2 syntaxin binding protein 2 ISO ClinVar Annotator: match by term: Abnormal bleeding ClinVar PMID:24916509 PMID:25741868 PMID:28399723 PMID:28492532 PMID:32256442 More... NCBI chr12:1,689,364...1,701,145
Ensembl chr12:1,689,410...1,700,458 		JBrowse link
G Tango2 transport and golgi organization 2 homolog ISO ClinVar Annotator: match by term: Abnormal bleeding ClinVar PMID:25741868 PMID:31064749 NCBI chr11:82,645,978...82,692,574
Ensembl chr11:82,645,974...82,692,574 		JBrowse link
G Tbx1 T-box transcription factor 1 ISO ClinVar Annotator: match by term: Abnormal bleeding ClinVar PMID:25741868 PMID:31064749 NCBI chr11:82,409,275...82,419,058
Ensembl chr11:82,409,275...82,418,380 		JBrowse link
G Tbxa2r thromboxane A2 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19828703 NCBI chr 7:8,383,347...8,390,753
Ensembl chr 7:8,383,378...8,388,176 		JBrowse link
G Tbxas1 thromboxane A synthase 1 ISO ClinVar Annotator: match by term: Abnormal bleeding ClinVar PMID:28492532 NCBI chr 4:67,664,963...67,837,096
Ensembl chr 4:67,665,007...67,837,096 		JBrowse link
G Thbd thrombomodulin ISO ClinVar Annotator: match by term: Abnormal bleeding ClinVar PMID:10102456 PMID:11552992 PMID:11986219 PMID:19625716 PMID:20595690 More... NCBI chr 3:135,863,366...135,867,018
Ensembl chr 3:135,862,835...135,867,193 		JBrowse link
G Thpo thrombopoietin ISO ClinVar Annotator: match by term: Abnormal bleeding ClinVar PMID:25741868 PMID:31064749 PMID:32150607 Ensembl chr11:80,182,820...80,188,167 JBrowse link
G Tpm4 tropomyosin 4 ISO ClinVar Annotator: match by term: Abnormal bleeding ClinVar NCBI chr16:17,684,415...17,698,456
Ensembl chr16:17,683,195...17,705,984 		JBrowse link
G Trmt2a tRNA methyltransferase 2 homolog A ISO ClinVar Annotator: match by term: Abnormal bleeding ClinVar PMID:25741868 PMID:31064749 NCBI chr11:82,737,689...82,742,423
Ensembl chr11:82,737,689...82,742,336 		JBrowse link
G Tubb1 tubulin, beta 1 class VI ISO ClinVar Annotator: match by term: Abnormal bleeding ClinVar PMID:18849486 PMID:25741868 PMID:27479822 PMID:28492532 PMID:32892537 More... NCBI chr 3:163,247,990...163,257,460
Ensembl chr 3:163,247,967...163,256,063 		JBrowse link
G Txnrd2 thioredoxin reductase 2 ISO ClinVar Annotator: match by term: Abnormal bleeding ClinVar PMID:25741868 PMID:31064749 NCBI chr11:82,519,996...82,568,156
Ensembl chr11:82,519,999...82,568,156 		JBrowse link
G Vps33b VPS33B, late endosome and lysosome associated ISO ClinVar Annotator: match by term: Abnormal bleeding ClinVar PMID:28492532 NCBI chr 1:134,223,967...134,247,232
Ensembl chr 1:134,223,949...134,246,970 		JBrowse link
G Vwf von Willebrand factor ISO ClinVar Annotator: match by term: Abnormal bleeding ClinVar PMID:1301136 PMID:1302613 PMID:1581215 PMID:1832934 PMID:1906179 More... NCBI chr 4:158,360,152...158,491,539
Ensembl chr 4:158,360,152...158,491,539 		JBrowse link
G Was WASP actin nucleation promoting factor ISO ClinVar Annotator: match by term: Abnormal bleeding ClinVar PMID:28492532 PMID:30349881 PMID:32935436 NCBI chr  X:14,405,105...14,413,850
Ensembl chr  X:14,405,124...14,413,849 		JBrowse link
G Wfdc21 WAP four-disulfide core domain 21 ISO ClinVar Annotator: match by term: Abnormal bleeding ClinVar PMID:25741868 PMID:31064749 NCBI chr10:68,627,836...68,633,705
Ensembl chr10:68,627,820...68,633,701 		JBrowse link
G Zdhhc8 zinc finger DHHC-type palmitoyltransferase 8 ISO ClinVar Annotator: match by term: Abnormal bleeding ClinVar PMID:25741868 PMID:31064749 NCBI chr11:82,755,110...82,769,280
Ensembl chr11:82,755,143...82,767,734 		JBrowse link
G Zim1 zinc finger, imprinted 1 ISO ClinVar Annotator: match by term: Abnormal bleeding ClinVar PMID:25741868 PMID:31064749 NCBI chr 1:67,132,076...67,157,843
Ensembl chr 1:67,132,147...67,153,761 		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 chr16:69,240,582...69,265,177
Ensembl chr16:69,240,585...69,268,223 		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
ISS		 OMIM:262850
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Alpha-2-plasmin inhibitor deficiency		 OMIM
MouseDO
CTD
ClinVar		 PMID:2496145 PMID:7095605 PMID:10583218 NCBI chr10:60,272,400...60,280,506
Ensembl chr10:60,272,400...60,281,243 		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
RGD		 PMID:1787257 PMID:12753286 PMID:17187257 PMID:17627784 PMID:19847791 More... RGD:10449096 NCBI chr 3:10,299,264...10,338,464
Ensembl chr 3:10,300,028...10,346,687 		JBrowse link
G Baat bile acid CoA:amino acid N-acyltransferase ISO ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1 ClinVar PMID:17182750 PMID:20301541 NCBI chr 5:63,851,668...63,860,641
Ensembl chr 5:63,850,705...63,860,685 		JBrowse link
G C1galt1c1 C1GALT1-specific chaperone 1 ISO ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:25741868 PMID:36599939 NCBI chr  X:117,378,123...117,382,620
Ensembl chr  X:117,375,525...117,382,787 		JBrowse link
G C2 complement C2 ISO ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1 ClinVar PMID:1577763 PMID:2249879 PMID:6308626 PMID:8181962 PMID:9616367 More... NCBI chr20:3,951,474...3,970,376
Ensembl chr20:3,951,474...3,976,505 		JBrowse link
G C3 complement C3 ISO ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 6 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome
CTD Direct Evidence: marker/mechanism
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 | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1
DNA:missense mutations: :p.F603V, p.R1042L, p.I1157T (human)		 OMIM
ClinVar
CTD
RGD		 PMID:1976733 PMID:9536098 PMID:12462331 PMID:14639503 PMID:17576681 More... RGD:7364995, RGD:11040768 NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429 		JBrowse link
G C3ar1 complement C3a receptor 1 ISO ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1 ClinVar NCBI chr 4:156,074,747...156,084,680
Ensembl chr 4:156,075,389...156,084,701 		JBrowse link
G Cd46 CD46 molecule severity
susceptibility		 ISO DNA:mutations:cds:multiple (human)
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: CD46-related condition | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome | 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: AHUS, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: CD46-related condition | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome | 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: AHUS, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome | 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: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome | 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 | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome | 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: AHUS, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome | ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome | ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2
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)		 ClinVar
OMIM
CTD
RGD		 PMID:270646 PMID:2431077 PMID:3480783 PMID:9536098 PMID:9551389 More... RGD:11038684, RGD:11352810, RGD:11040768, RGD:11352768 NCBI chr13:106,575,586...106,606,325
Ensembl chr13:106,574,858...106,660,445 		JBrowse link
G Cep290 centrosomal protein 290 ISO ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:25439097 PMID:25741868 PMID:28224992 PMID:28492532 PMID:29482223 More... NCBI chr 7:35,310,071...35,399,388
Ensembl chr 7:35,310,199...35,399,392 		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 | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2 | 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		 OMIM
ClinVar
CTD
RGD		 PMID:1577763 PMID:2249879 PMID:6308626 PMID:7452889 PMID:8181962 More... RGD:7242707, RGD:11040768 NCBI chr20:3,970,643...3,976,510
Ensembl chr20:3,951,474...3,976,505 		JBrowse link
G Cfh complement factor H susceptibility ISO
ISS
IMP		 DNA:missense mutation
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 6 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 1 | 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 | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 6 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 1 | 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 | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1
CTD Direct Evidence: marker/mechanism
DNA:nonsense mutations, missense mutations, splice-site mutation: :multiple
DNA:deletion:Cds:
DNA:SNPs,Haplotype::		 OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:646435 PMID:8072530 PMID:9536098 PMID:9551389 PMID:9811382 More... RGD:1599886, RGD:11041172, RGD:11041162, RGD:11040768, RGD:7364995, RGD:7364995, RGD:7364995 NCBI chr13:51,512,376...51,613,829
Ensembl chr13:51,511,828...51,613,838 		JBrowse link
G Cfhr1 complement factor H-related 1 ISO DNA:deletion
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1		 OMIM
CTD
ClinVar
RGD		 PMID:16998489 PMID:17367211 PMID:18006700 PMID:20843825 PMID:25741868 More... RGD:11041162 NCBI chr13:51,395,583...51,410,571
Ensembl chr13:51,369,211...51,410,592 		JBrowse link
G Cfhr4 complement factor H-related 4 ISO ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr13:51,422,592...51,491,476
Ensembl chr13:51,422,592...51,491,502 		JBrowse link
G Cfi complement factor I ISO ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome
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 term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 6 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome		 OMIM
ClinVar
CTD
RGD		 PMID:849647 PMID:8613545 PMID:9536098 PMID:15173250 PMID:15917334 More... RGD:6906889 NCBI chr 2:218,389,079...218,430,565
Ensembl chr 2:218,387,990...218,430,561 		JBrowse link
G Col4a3 collagen type IV alpha 3 chain ISO ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:11134255 PMID:12028435 PMID:24033266 PMID:25741868 PMID:26467025 More... NCBI chr 9:83,875,849...84,004,955
Ensembl chr 9:83,875,561...84,001,895 		JBrowse link
G Col4a4 collagen type IV alpha 4 chain ISO ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:9792860 PMID:11134255 PMID:11685592 PMID:11961012 PMID:12028435 More... NCBI chr 9:83,833,173...83,875,436
Ensembl chr 9:83,755,515...83,875,876 		JBrowse link
G Col4a5 collagen type IV alpha 5 chain ISO ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:7599631 PMID:7695699 PMID:8218237 PMID:8651296 PMID:8940267 More... NCBI chr  X:105,118,762...105,322,699
Ensembl chr  X:105,118,820...105,322,692 		JBrowse link
G Dgke diacylglycerol kinase epsilon ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1		 CTD
ClinVar		 PMID:23274426 PMID:23542698 PMID:24511134 PMID:24747643 PMID:25135762 More... NCBI chr10:73,853,030...73,877,334
Ensembl chr10:73,855,583...73,877,100 		JBrowse link
G Hbb hemoglobin subunit beta ISO ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:893142 PMID:1726094 PMID:7558877 PMID:25741868 NCBI chr 1:158,250,421...158,251,832
Ensembl chr 1:158,120,200...158,252,012 		JBrowse link
G Lamb2 laminin subunit beta 2 ISO ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:109,178,367...109,190,552
Ensembl chr 8:109,178,409...109,190,549 		JBrowse link
G Mmachc metabolism of cobalamin associated C ISO ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5
ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome		 ClinVar PMID:16311595 PMID:16714133 PMID:17768669 PMID:17853453 PMID:18164228 More... NCBI chr 5:130,166,056...130,172,735
Ensembl chr 5:130,166,451...130,172,601 		JBrowse link
G Myh9 myosin, heavy chain 9 ISO ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 7:109,343,718...109,424,457
Ensembl chr 7:109,343,706...109,424,457 		JBrowse link
G Nlrp3 NLR family, pyrin domain containing 3 ISO ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr10:44,326,770...44,353,814
Ensembl chr10:44,328,566...44,352,811 		JBrowse link
G Nphp3 nephrocystin 3 ISO ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:25741868 PMID:26184788 PMID:28492532 NCBI chr 8:104,621,908...104,662,383
Ensembl chr 8:104,621,864...104,662,383 		JBrowse link
G Nphp4 nephrocystin 4 ISO ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:162,986,157...163,073,708
Ensembl chr 5:162,988,370...163,073,706 		JBrowse link
G Pla2r1 phospholipase A2 receptor 1 ISO ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:25741868 NCBI chr 3:44,883,943...45,013,793
Ensembl chr 3:44,883,943...45,013,660 		JBrowse link
G Plg plasminogen ISO ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:48,325,186...48,367,643
Ensembl chr 1:48,325,185...48,367,786 		JBrowse link
G Smarcal1 SNF2 related chromatin remodeling annealing helicase 1 ISO ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:28492532 PMID:28844315 NCBI chr 9:74,239,718...74,286,156
Ensembl chr 9:74,240,241...74,286,146 		JBrowse link
G Thbd thrombomodulin severity
no_association		 ISO ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 6 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 6 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome
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		 OMIM
ClinVar
CTD
RGD		 PMID:7811989 PMID:9157575 PMID:9198186 PMID:9236408 PMID:10102456 More... RGD:11038684, RGD:11038691, RGD:11038691 NCBI chr 3:135,863,366...135,867,018
Ensembl chr 3:135,862,835...135,867,193 		JBrowse link
G Tmem67 transmembrane protein 67 ISO ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:25,536,458...25,589,378
Ensembl chr 5:25,536,458...25,589,334 		JBrowse link
G Trpc6 transient receptor potential cation channel, subfamily C, member 6 ISO ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:19380626 PMID:25741868 NCBI chr 8:5,759,387...5,864,000
Ensembl chr 8:5,758,935...5,828,092 		JBrowse link
G Wt1 WT1 transcription factor ISO ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:18559874 PMID:18591546 PMID:19171881 PMID:19221039 PMID:19494353 More... NCBI chr 3:91,566,540...91,613,653
Ensembl chr 3:91,567,001...91,613,643 		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 3:10,299,264...10,338,464
Ensembl chr 3:10,300,028...10,346,687 		JBrowse link
G Alb albumin ISO RGD PMID:6683982 RGD:11036083 NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836 		JBrowse link
G Cd40 CD40 molecule ISO protein:increased expression:peripheral blood, B lymphocyte (human) RGD PMID:17654056 RGD:11344977 NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534 		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:135,127,052...135,138,768
Ensembl chr  X:135,126,969...135,138,306 		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 chr11:64,142,193...64,200,816
Ensembl chr11:64,163,828...64,200,818 		JBrowse link
G Dnmt3a DNA methyltransferase 3 alpha ISO mRNA:decreased expression:mononuclear cell RGD PMID:18683034 RGD:9588662 NCBI chr 6:26,791,517...26,902,161
Ensembl chr 6:26,822,609...26,896,687 		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 3:142,130,588...142,169,128
Ensembl chr 3:142,130,592...142,169,124 		JBrowse link
G Fas Fas cell surface death receptor ISO protein:increased expression:serum: RGD PMID:10776692 RGD:11049162 NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591 		JBrowse link
G Fcgr2a Fc gamma receptor 2A 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 chr13:83,280,782...83,297,535
Ensembl chr13:83,280,784...83,295,967 		JBrowse link
G Fcgr2b Fc gamma receptor 2B 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 chr13:83,191,253...83,207,778
Ensembl chr13:83,193,163...83,207,778 		JBrowse link
G Fcgr3a Fc gamma receptor 3A 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 chr13:83,249,905...83,259,921
Ensembl chr13:83,249,872...83,259,921 		JBrowse link
G Gp1ba glycoprotein Ib platelet subunit alpha ISO RGD PMID:16861348 RGD:10450841 NCBI chr10:55,352,938...55,355,804
Ensembl chr10:55,352,899...55,356,774 		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 chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313 		JBrowse link
G Il18 interleukin 18 ISO protein:increased expression:plasma: RGD PMID:24801815 RGD:11073600 NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887 		JBrowse link
G Il1a interleukin 1 alpha ISO DNA:SNP:promoter:-899C>T (human) RGD PMID:21591983 RGD:11051966 NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822 		JBrowse link
G Il1rn interleukin 1 receptor antagonist susceptibility ISO DNA:repeats:: RGD PMID:20626741 RGD:11528541 NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445 		JBrowse link
G Il2 interleukin 2 susceptibility ISO DNA:polymorphism::-330T>G(human) RGD PMID:20626741 RGD:11528541 NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566 		JBrowse link
G Il4 interleukin 4 disease_progression ISO DNA:repeat:intron RGD PMID:25051072 RGD:11041894 NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750 		JBrowse link
G Itgb3 integrin subunit beta 3 ISO RGD PMID:10936026 PMID:24258817 RGD:10755473, RGD:10755475 NCBI chr10:89,509,917...89,564,679
Ensembl chr10:89,509,989...89,564,679 		JBrowse link
G Mir3581 microRNA 3581 treatment ISO RGD PMID:23360331 RGD:10755694 NCBI chr 6:128,757,779...128,757,858
Ensembl chr 6:128,757,779...128,757,858 		JBrowse link
G Mir409 microRNA 409 treatment ISO RGD PMID:23360331 RGD:10755694 NCBI chr 6:128,757,780...128,757,856
Ensembl chr 6:128,757,779...128,757,858 		JBrowse link
G Plat plasminogen activator, tissue type ISO protein:increased expression:plasma (human) RGD PMID:2129164 RGD:11541072 NCBI chr16:69,240,582...69,265,177
Ensembl chr16:69,240,585...69,268,223 		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 2:191,366,761...191,414,782
Ensembl chr 2:191,366,808...191,414,779 		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 chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597 		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 chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258 		JBrowse link
G Socs1 suppressor of cytokine signaling 1 ISO ClinVar Annotator: match by term: Autoimmune thrombocytopenia | ClinVar Annotator: match by term: Autoimmune thrombocytopenic purpura ClinVar PMID:32853638 PMID:33087723 NCBI chr10:4,882,651...4,884,342
Ensembl chr10:4,882,560...4,884,383 		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 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847 		JBrowse link
autosomal dominant isolated macrothrombocytopenia 1 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: Macrothrombocytopenia, isolated, 1, autosomal dominant | ClinVar Annotator: match by term: TUBB1-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:4516618 PMID:18849486 PMID:24344610 PMID:24777453 PMID:25741868 More... NCBI chr 3:163,247,990...163,257,460
Ensembl chr 3:163,247,967...163,256,063 		JBrowse link
autosomal dominant isolated macrothrombocytopenia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tuba8 tubulin, alpha 8 ISO ClinVar Annotator: match by term: Macrothrombocytopenia, isolated, 2, autosomal dominant OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:34704371 NCBI chr 4:154,440,045...154,456,918
Ensembl chr 4:154,440,074...154,456,917 		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 nonsyndromic sensorineural 17 | ClinVar Annotator: match by term: Late-onset progressive hereditary hearing impairment due to cochleosaccular degeneration
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1449176 PMID:5011389 PMID:8280620 PMID:9390828 PMID:10603121 More... NCBI chr 7:109,343,718...109,424,457
Ensembl chr 7:109,343,706...109,424,457 		JBrowse link
autosomal hemophilia A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb7 ATP binding cassette subfamily B member 7 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:69,295,598...69,436,775
Ensembl chr  X:69,295,552...69,436,858 		JBrowse link
G Abcd1 ATP binding cassette subfamily D member 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:151,428,334...151,450,115
Ensembl chr  X:151,428,578...151,450,115 		JBrowse link
G Acsl4 acyl-CoA synthetase long-chain family member 4 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:105,942,794...106,006,573
Ensembl chr  X:105,942,799...106,006,427 		JBrowse link
G Actrt1 actin-related protein T1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:125,584,102...125,585,455
Ensembl chr  X:125,584,065...125,585,457 		JBrowse link
G Adgrg4 adhesion G protein-coupled receptor G4 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:134,734,610...134,864,449
Ensembl chr  X:134,854,736...134,864,449 		JBrowse link
G Aff2 ALF transcription elongation factor 2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:147,928,130...148,432,484
Ensembl chr  X:147,928,407...148,429,995 		JBrowse link
G Agtr2 angiotensin II receptor, type 2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:112,119,876...112,124,060
Ensembl chr  X:112,120,228...112,124,057 		JBrowse link
G Aifm1 apoptosis inducing factor, mitochondria associated 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:127,650,223...127,689,356
Ensembl chr  X:127,650,226...127,689,256 		JBrowse link
G Akap14 A-kinase anchoring protein 14 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:116,395,512...116,410,697
Ensembl chr  X:116,395,516...116,410,697 		JBrowse link
G Alas2 5'-aminolevulinate synthase 2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:19,463,146...19,486,526
Ensembl chr  X:19,463,171...19,486,519 		JBrowse link
G Alg13 ALG13, UDP-N-acetylglucosaminyltransferase subunit ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:107,906,320...107,968,232
Ensembl chr  X:107,885,093...107,942,695 		JBrowse link
G Amer1 APC membrane recruitment protein 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:60,300,595...60,316,480
Ensembl chr  X:60,295,751...60,316,440 		JBrowse link
G Ammecr1 AMMECR nuclear protein 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:106,465,982...106,571,382
Ensembl chr  X:106,466,699...106,571,487 		JBrowse link
G Amot angiomotin ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:108,982,399...109,041,265
Ensembl chr  X:108,984,022...109,041,272 		JBrowse link
G Apex2 apurinic/apyrimidinic endodeoxyribonuclease 2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:19,425,684...19,508,459
Ensembl chr  X:19,487,419...19,508,439 		JBrowse link
G Apln apelin ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:127,180,801...127,213,567
Ensembl chr  X:127,203,823...127,213,391 		JBrowse link
G Apool apolipoprotein O-like ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:77,377,723...77,443,672
Ensembl chr  X:77,377,781...77,443,900 		JBrowse link
G Ar androgen receptor ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:63,104,771...63,273,934
Ensembl chr  X:63,104,771...63,273,925 		JBrowse link
G Arhgap36 Rho GTPase activating protein 36 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:128,780,148...128,787,169
Ensembl chr  X:128,751,900...128,787,161 		JBrowse link
G Arhgap4 Rho GTPase activating protein 4 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:151,636,071...151,651,528
Ensembl chr  X:151,632,454...151,651,128 		JBrowse link
G Arhgef6 Rac/Cdc42 guanine nucleotide exchange factor 6 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:135,145,447...135,264,636
Ensembl chr  X:135,146,786...135,275,304 		JBrowse link
G Arhgef9 Cdc42 guanine nucleotide exchange factor 9 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:59,919,560...60,077,538
Ensembl chr  X:59,920,870...60,077,513 		JBrowse link
G Arl13a ARF like GTPase 13A ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:97,380,370...97,406,704
Ensembl chr  X:97,380,390...97,406,702 		JBrowse link
G Armcx1 armadillo repeat containing, X-linked 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:97,898,969...97,902,874
Ensembl chr  X:97,898,883...97,903,299 		JBrowse link
G Armcx2 armadillo repeat containing, X-linked 2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:97,980,662...97,985,523
Ensembl chr  X:97,980,660...97,985,552 		JBrowse link
G Armcx3 armadillo repeat containing, X-linked 3 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:97,937,115...97,942,098
Ensembl chr  X:97,936,999...97,942,098 		JBrowse link
G Armcx4 armadillo repeat containing, X-linked 4 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:97,860,526...97,870,912
Ensembl chr  X:97,860,629...97,870,912 		JBrowse link
G Armcx5 armadillo repeat containing, X-linked 5 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:98,709,921...98,714,347
Ensembl chr  X:98,709,841...98,714,674 		JBrowse link
G Armcx6 armadillo repeat containing, X-linked 6 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:97,929,032...97,932,031
Ensembl chr  X:97,929,041...97,931,977 		JBrowse link
G Arr3 arrestin 3 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:65,699,881...65,712,224
Ensembl chr  X:65,698,699...65,712,153 		JBrowse link
G Asb12 ankyrin repeat and SOCS box-containing 12 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:60,328,325...60,478,031
Ensembl chr  X:60,328,328...60,415,619 		JBrowse link
G Atg4a autophagy related 4A, cysteine peptidase ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:104,665,345...104,765,271
Ensembl chr  X:104,665,345...104,765,268 		JBrowse link
G Atp11c ATPase phospholipid transporting 11C ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:138,564,459...138,752,116
Ensembl chr  X:138,565,836...138,751,204 		JBrowse link
G Atp1b4 ATPase Na+/K+ transporting family member beta 4 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:117,087,284...117,108,023
Ensembl chr  X:117,057,423...117,108,020 		JBrowse link
G Atp2b3 ATPase plasma membrane Ca2+ transporting 3 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:151,216,483...151,289,069
Ensembl chr  X:151,216,507...151,286,775 		JBrowse link
G Atp6ap1 ATPase H+ transporting accessory protein 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:152,079,954...152,087,034
Ensembl chr  X:152,079,865...152,087,034 		JBrowse link
G Atp7a ATPase copper transporting alpha ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:71,094,144...71,201,550
Ensembl chr  X:71,094,202...71,198,354 		JBrowse link
G Atrx ATRX, chromatin remodeler ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:70,850,981...70,997,330
Ensembl chr  X:70,850,981...70,997,330 		JBrowse link
G Avpr2 arginine vasopressin receptor 2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:151,633,501...151,636,155
Ensembl chr  X:151,633,522...151,635,989 		JBrowse link
G Awat1 acyl-CoA wax alcohol acyltransferase 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:65,668,205...65,674,450
Ensembl chr  X:65,668,205...65,674,450 		JBrowse link
G Awat2 acyl-CoA wax alcohol acyltransferase 2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:65,481,676...65,490,562
Ensembl chr  X:65,481,929...65,527,625 		JBrowse link
G Bcap31 B-cell receptor-associated protein 31 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:151,397,567...151,429,666
Ensembl chr  X:151,397,576...151,428,506 		JBrowse link
G Bcorl1 BCL6 co-repressor-like 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:127,516,504...127,584,529
Ensembl chr  X:127,537,538...127,584,087 		JBrowse link
G Bex1 brain expressed X-linked 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:99,219,014...99,220,518
Ensembl chr  X:99,219,014...99,220,958 		JBrowse link
G Bex2 brain expressed X-linked 2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:99,019,847...99,021,375
Ensembl chr  X:99,019,000...99,021,503 		JBrowse link
G Bex3 brain expressed X-linked 3 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:99,273,270...99,274,799
Ensembl chr  X:99,273,161...99,274,800 		JBrowse link
G Bex4 brain expressed, X-linked 4 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:99,131,985...99,133,417
Ensembl chr  X:99,131,942...99,133,531 		JBrowse link
G Bgn biglycan ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:151,197,296...151,209,458
Ensembl chr  X:151,197,273...151,209,461 		JBrowse link
G Brcc3 BRCA1/BRCA2-containing complex subunit 3 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr 9:1,986,942...1,989,484
Ensembl chr 9:1,986,575...1,991,080 		JBrowse link
G Brs3 bombesin receptor subtype 3 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:134,906,817...134,932,321
Ensembl chr  X:134,906,784...134,930,983 		JBrowse link
G Brwd3 bromodomain and WD repeat domain containing 3 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:73,768,343...73,861,643
Ensembl chr  X:73,774,340...73,861,622 		JBrowse link
G Btk Bruton tyrosine kinase ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:97,722,796...97,762,315
Ensembl chr  X:97,722,802...97,761,853 		JBrowse link
G C1galt1c1 C1GALT1-specific chaperone 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:117,378,123...117,382,620
Ensembl chr  X:117,375,525...117,382,787 		JBrowse link
G Capn6 calpain 6 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:107,380,774...107,405,489
Ensembl chr  X:107,380,774...107,405,489 		JBrowse link
G Ccdc160 coiled-coil domain containing 160 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:132,468,141...132,478,616
Ensembl chr  X:132,468,213...132,478,431 		JBrowse link
G Ccnq cyclin Q ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr10:63,646,532...63,647,695
Ensembl chr10:63,646,527...63,647,961 		JBrowse link
G Cd40lg CD40 ligand ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:135,127,052...135,138,768
Ensembl chr  X:135,126,969...135,138,306 		JBrowse link
G Cd99l2 CD99 molecule-like 2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835
G Cdx4 caudal type homeo box 4 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:68,326,874...68,335,461
Ensembl chr  X:68,326,874...68,335,461 		JBrowse link
G Cenpi centromere protein I ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:97,515,919...97,567,671
Ensembl chr  X:97,515,972...97,567,657 		JBrowse link
G Cetn2 centrin 2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:150,769,944...150,774,833
Ensembl chr  X:150,769,953...150,774,919 		JBrowse link
G Chic1 cysteine-rich hydrophobic domain 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:68,362,014...68,406,155
Ensembl chr  X:68,361,969...68,437,887 		JBrowse link
G Chm CHM Rab escort protein ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:78,203,200...78,361,996
Ensembl chr  X:78,203,204...78,361,943 		JBrowse link
G Chrdl1 chordin-like 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:106,889,125...106,992,937
Ensembl chr  X:106,889,125...106,992,921 		JBrowse link
G Cited1 Cbp/p300-interacting transactivator with Glu/Asp-rich carboxy-terminal domain 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:67,350,376...67,355,072
Ensembl chr  X:67,350,373...67,355,162 		JBrowse link
G Cldn2 claudin 2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:103,459,870...103,473,794
Ensembl chr  X:103,459,780...103,474,838 		JBrowse link
G Clic2 chloride intracellular channel 2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr20:149,337...164,375
Ensembl chr20:148,907...164,355 		JBrowse link
G Cmc4 C-X9-C motif containing 4 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr18:125,308...132,163
Ensembl chr18:125,227...132,160 		JBrowse link
G Cnga2 cyclic nucleotide gated channel subunit alpha 2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:149,696,999...149,715,051
Ensembl chr  X:149,696,997...149,715,051 		JBrowse link
G Col4a5 collagen type IV alpha 5 chain ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:105,118,762...105,322,699
Ensembl chr  X:105,118,820...105,322,692 		JBrowse link
G Col4a6 collagen type IV alpha 6 chain ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:104,766,463...105,117,499
Ensembl chr  X:104,766,957...105,117,500 		JBrowse link
G Cox7b cytochrome c oxidase subunit 7B ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:71,083,486...71,089,733
Ensembl chr  X:71,083,456...71,089,732 		JBrowse link
G Cpxcr1 CPX chromosome region, candidate 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:81,756,909...81,794,661 JBrowse link
G Cstf2 cleavage stimulation factor subunit 2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:97,253,559...97,279,476
Ensembl chr  X:97,253,586...97,279,476 		JBrowse link
G Ct47b1 cancer/testis antigen family 47, member B1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:115,651,472...115,655,191
Ensembl chr  X:115,651,482...115,655,188 		JBrowse link
G Ct55 cancer/testis antigen 55 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:133,502,545...133,515,730
Ensembl chr  X:133,502,869...133,515,529 		JBrowse link
G Ctag2 cancer/testis antigen 2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:143,531,907...143,533,201
Ensembl chr  X:143,531,907...143,533,201 		JBrowse link
G Cul4b cullin 4B ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:117,287,481...117,326,688
Ensembl chr  X:117,287,484...117,326,688 		JBrowse link
G Cxcr3 C-X-C motif chemokine receptor 3 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:66,844,318...66,846,969
Ensembl chr  X:66,844,318...66,846,969 		JBrowse link
G Cxhxorf49 similar to human chromosome X open reading frame 49 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:66,911,430...66,915,407
Ensembl chr  X:66,911,431...66,915,293 		JBrowse link
G Cxhxorf66 similar to human chromosome X open reading frame 66 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:138,779,374...138,819,595
Ensembl chr  X:138,779,382...138,785,707 		JBrowse link
G Cylc1 cylicin 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:76,108,111...76,197,431
Ensembl chr  X:76,108,136...76,197,422 		JBrowse link
G Cysltr1 cysteinyl leukotriene receptor 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:71,661,421...71,690,012
Ensembl chr  X:71,663,821...71,690,121 		JBrowse link
G Dach2 dachshund family transcription factor 2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:78,718,963...79,018,023
Ensembl chr  X:78,451,593...79,017,592 		JBrowse link
G Dcaf12l1 DDB1 and CUL4 associated factor 12-like 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:123,695,286...123,698,905
Ensembl chr  X:123,695,286...123,698,905 		JBrowse link
G Dcaf12l2 DDB1 and CUL4 associated factor 12-like 2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:123,293,761...123,296,550
Ensembl chr  X:123,294,744...123,296,156 		JBrowse link
G Dcx doublecortin ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:107,430,767...107,573,612
Ensembl chr  X:107,430,767...107,507,476 		JBrowse link
G Dgat2l6 diacylglycerol O-acyltransferase 2-like 6 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:65,614,430...65,637,962
Ensembl chr  X:65,614,430...65,637,962 		JBrowse link
G Diaph2 diaphanous-related formin 2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:92,395,189...93,234,521
Ensembl chr  X:92,395,251...93,229,869 		JBrowse link
G Dkc1 dyskerin pseudouridine synthase 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835
G Dlg3 discs large MAGUK scaffold protein 3 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:65,859,653...65,911,887
Ensembl chr  X:65,860,172...65,910,322 		JBrowse link
G Dmrtc1a DMRT-like family C1a ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:67,822,187...67,852,572
Ensembl chr  X:67,822,113...67,852,571 		JBrowse link
G Dmrtc1c1 DMRT-like family C1c1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:67,896,973...67,904,182
Ensembl chr  X:67,896,974...67,904,182 		JBrowse link
G Dnaaf6 dynein axonemal assembly factor 6 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:103,724,419...103,775,633
Ensembl chr  X:103,731,857...103,775,629 		JBrowse link
G Dnase1l1 deoxyribonuclease 1-like 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:152,056,942...152,065,518
Ensembl chr  X:152,056,942...152,065,518 		JBrowse link
G Dock11 dedicator of cytokinesis 11 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:115,131,720...115,314,854
Ensembl chr  X:115,131,909...115,314,854 		JBrowse link
G Drp2 dystrophin related protein 2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:97,607,577...97,658,117
Ensembl chr  X:97,607,719...97,655,684 		JBrowse link
G Dusp9 dual specificity phosphatase 9 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:151,351,897...151,355,822
Ensembl chr  X:151,351,897...151,355,821 		JBrowse link
G Eda ectodysplasin-A ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:65,078,454...65,480,172
Ensembl chr  X:65,078,673...65,480,172 		JBrowse link
G Eda2r ectodysplasin A2 receptor ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:62,224,763...62,269,333
Ensembl chr  X:62,228,229...62,269,268 		JBrowse link
G Efnb1 ephrin B1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:64,257,351...64,270,158
Ensembl chr  X:64,257,351...64,270,157 		JBrowse link
G Elf4 E74 like ETS transcription factor 4 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:127,587,401...127,639,063
Ensembl chr  X:127,590,650...127,630,200 		JBrowse link
G Emd emerin ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:152,038,990...152,042,190
Ensembl chr  X:152,038,998...152,045,807 		JBrowse link
G Enox2 ecto-NOX disulfide-thiol exchanger 2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:128,270,941...128,593,074
Ensembl chr  X:128,271,074...128,593,039 		JBrowse link
G Eola2 endothelium and lymphocyte associated ASCH domain 2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:149,064,015...149,068,627
Ensembl chr  X:149,064,041...149,068,627 		JBrowse link
G Ercc6l ERCC excision repair 6 like, spindle assembly checkpoint helicase ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:67,245,414...67,261,222
Ensembl chr  X:67,245,414...67,280,756 		JBrowse link
G Esx1 ESX homeobox 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:100,449,298...100,454,452 JBrowse link
G F8 coagulation factor VIII ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A | ClinVar Annotator: match by term: Mild hemophilia A ClinVar PMID:1301194 PMID:1301932 PMID:1301960 PMID:1349567 PMID:1357455 More... NCBI chr18:140,848...172,330
Ensembl chr18:140,955...171,857 		JBrowse link
G F8a1 coagulation factor VIII-associated 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:2105106 PMID:18371163 PMID:22759210 PMID:22906111 PMID:29296726 More... NCBI chr  X:150,957,357...150,958,871
Ensembl chr  X:150,916,679...150,960,168 		JBrowse link
G F9 coagulation factor IX ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:1346975 PMID:1615486 PMID:1680287 PMID:1864609 PMID:1873221 More... NCBI chr  X:138,352,334...138,396,835
Ensembl chr  X:138,352,298...138,396,835 		JBrowse link
G Fam199x family with sequence similarity 199, X-linked ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:100,384,230...100,419,935
Ensembl chr  X:100,384,225...100,414,938 		JBrowse link
G Fam3a FAM3 metabolism regulating signaling molecule A ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:152,166,716...152,175,327
Ensembl chr  X:152,165,535...152,175,362 		JBrowse link
G Fam50a family with sequence similarity 50, member A ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:152,095,245...152,102,362
Ensembl chr  X:152,095,245...152,102,362 		JBrowse link
G Fgf13 fibroblast growth factor 13 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:137,276,498...137,800,056
Ensembl chr  X:137,276,511...137,800,391 		JBrowse link
G Fgf16 fibroblast growth factor 16 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:70,816,658...70,828,028
Ensembl chr  X:70,817,433...70,878,717 		JBrowse link
G Fhl1 four and a half LIM domains 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:134,555,399...134,614,930
Ensembl chr  X:134,555,479...134,614,928 		JBrowse link
G Flna filamin A ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:152,007,758...152,034,266
Ensembl chr  X:152,007,758...152,031,052 		JBrowse link
G Fmr1 fragile X messenger ribonucleoprotein 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:147,240,239...147,278,057
Ensembl chr  X:147,240,301...147,278,050 		JBrowse link
G Fmr1nb FMR1 neighbor ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:147,309,613...147,332,426
Ensembl chr  X:147,309,663...147,332,418 		JBrowse link
G Foxo4 forkhead box O4 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:66,385,241...66,392,115
Ensembl chr  X:66,385,558...66,392,115 		JBrowse link
G Foxr2 forkhead box R2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:18,242,420...18,276,095
Ensembl chr  X:18,244,255...18,245,163 		JBrowse link
G Frmd7 FERM domain containing 7 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:130,375,925...130,423,836
Ensembl chr  X:130,377,227...130,423,771 		JBrowse link
G Frmpd3 FERM and PDZ domain containing 3 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:103,964,168...104,113,864
Ensembl chr  X:104,043,194...104,111,968 		JBrowse link
G Ftx FTX transcript, XIST regulator ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:68,588,349...68,630,338 JBrowse link
G Fundc2 FUN14 domain containing 2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:2105106 PMID:2563431 PMID:31690835 NCBI chr18:128,473...138,232
Ensembl chr18:132,248...138,345 		JBrowse link
G G6pd glucose-6-phosphate dehydrogenase ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:152,201,081...152,220,863
Ensembl chr  X:152,201,098...152,220,801 		JBrowse link
G Gabra3 gamma-aminobutyric acid type A receptor subunit alpha 3 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:150,244,745...150,501,566
Ensembl chr  X:150,261,607...150,501,559 		JBrowse link
G Gabre gamma-aminobutyric acid type A receptor subunit epsilon ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:150,060,035...150,078,773
Ensembl chr  X:150,060,040...150,078,693 		JBrowse link
G Gabrq gamma-aminobutyric acid type A receptor subunit theta ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:150,696,161...150,712,948
Ensembl chr  X:150,696,427...150,709,919 		JBrowse link
G Gdi1 GDP dissociation inhibitor 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:152,087,611...152,094,274
Ensembl chr  X:152,087,444...152,094,272 		JBrowse link
G Gdpd2 glycerophosphodiester phosphodiesterase domain containing 2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:65,826,273...65,835,361
Ensembl chr  X:65,826,574...65,835,361 		JBrowse link
G Gjb1 gap junction protein, beta 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:66,501,848...66,509,783
Ensembl chr  X:66,501,820...66,509,925 		JBrowse link
G Gla galactosidase, alpha ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:97,769,227...97,780,646
Ensembl chr  X:97,768,996...97,780,664 		JBrowse link
G Gpc3 glypican 3 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:131,868,986...132,236,824
Ensembl chr  X:131,868,990...132,236,798 		JBrowse link
G Gpc4 glypican 4 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:131,644,711...131,755,349
Ensembl chr  X:131,644,704...131,755,284 		JBrowse link
G Gpr101 G protein-coupled receptor 101 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:135,540,042...135,543,958
Ensembl chr  X:135,540,042...135,543,958 		JBrowse link
G Gpr119 G protein-coupled receptor 119 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:127,852,145...127,858,198
Ensembl chr  X:127,852,145...127,858,198 		JBrowse link
G Gpr174 G protein-coupled receptor 174 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:72,355,452...72,396,146
Ensembl chr  X:72,355,033...72,397,658 		JBrowse link
G Gpr50 G protein-coupled receptor 50 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:149,368,900...149,373,486
Ensembl chr  X:149,368,900...149,373,486 		JBrowse link
G Gprasp1 G protein-coupled receptor associated sorting protein 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:98,764,853...98,772,685
Ensembl chr  X:98,709,841...98,772,851 		JBrowse link
G Gprasp2 G protein-coupled receptor associated sorting protein 2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:98,817,668...98,823,814
Ensembl chr  X:98,817,593...98,824,402 		JBrowse link
G Gprasp3 G protein-coupled receptor associated sorting protein family member 3 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:98,847,591...98,854,949
Ensembl chr  X:98,817,593...98,854,545 		JBrowse link
G Gria3 glutamate ionotropic receptor AMPA type subunit 3 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:120,238,515...120,504,106
Ensembl chr  X:120,238,534...120,504,096 		JBrowse link
G Gucy2f guanylate cyclase 2F ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:105,710,356...105,808,183
Ensembl chr  X:105,710,356...105,808,183 		JBrowse link
G H2ab3 H2A.B variant histone 3 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:2105106 PMID:18371163 PMID:22759210 PMID:22906111 PMID:29296726 More... NCBI chr  X:82,362,531...82,363,105
Ensembl chr  X:82,362,633...82,362,983 		JBrowse link
G Haus7 HAUS augmin-like complex, subunit 7 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:151,154,979...151,174,441
Ensembl chr  X:151,154,979...151,180,577 		JBrowse link
G Hcfc1 host cell factor C1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:151,687,779...151,712,688
Ensembl chr  X:151,687,779...151,712,638 		JBrowse link
G Hdac8 histone deacetylase 8 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:67,385,288...67,593,014
Ensembl chr  X:67,385,289...67,592,923 		JBrowse link
G Hdx highly divergent homeobox ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:76,552,539...76,697,177
Ensembl chr  X:76,560,665...76,869,972 		JBrowse link
G Heph hephaestin ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:61,151,131...61,402,980
Ensembl chr  X:61,296,345...61,402,980 		JBrowse link
G Hmgb3 high mobility group box 3 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:149,296,303...149,301,290
Ensembl chr  X:149,296,375...149,301,292 		JBrowse link
G Hmgn5 high mobility group nucleosome binding domain 5 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:74,085,871...74,094,488
Ensembl chr  X:74,085,875...74,094,441
Ensembl chr 1:74,085,875...74,094,441 		JBrowse link
G Hnrnph2 heterogeneous nuclear ribonucleoprotein H2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:97,780,890...97,786,846
Ensembl chr  X:97,780,785...97,787,041 		JBrowse link
G Hprt1 hypoxanthine phosphoribosyltransferase 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:132,736,175...132,768,149
Ensembl chr  X:132,736,096...132,768,154 		JBrowse link
G Hs6st2 heparan sulfate 6-O-sulfotransferase 2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:130,966,547...131,261,629
Ensembl chr  X:130,968,385...131,261,492 		JBrowse link
G Htatsf1 HIV-1 Tat specific factor 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:134,935,426...134,949,607
Ensembl chr  X:134,935,426...134,949,607 		JBrowse link
G Htr2c 5-hydroxytryptamine receptor 2C ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:110,640,777...110,870,288
Ensembl chr  X:110,641,153...110,870,287 		JBrowse link
G Idh3g isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:151,515,244...151,524,175
Ensembl chr  X:151,515,247...151,524,171 		JBrowse link
G Ids iduronate 2-sulfatase ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:149,025,976...149,046,641
Ensembl chr  X:149,025,976...149,046,663 		JBrowse link
G Igbp1 immunoglobulin binding protein 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:65,582,832...65,605,078
Ensembl chr  X:65,582,821...65,606,049 		JBrowse link
G Igsf1 immunoglobulin superfamily, member 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:129,069,891...129,085,331
Ensembl chr  X:129,069,896...129,085,139 		JBrowse link
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:152,216,485...152,241,476
Ensembl chr  X:152,216,596...152,239,499 		JBrowse link
G Il13ra1 interleukin 13 receptor subunit alpha 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:115,348,822...115,408,682
Ensembl chr  X:115,348,860...115,408,681
Ensembl chr11:115,348,860...115,408,681 		JBrowse link
G Il13ra2 interleukin 13 receptor subunit alpha 2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:111,002,590...111,074,053
Ensembl chr  X:111,002,592...111,072,381 		JBrowse link
G Il1rapl2 interleukin 1 receptor accessory protein-like 2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:100,961,509...102,271,753
Ensembl chr  X:100,961,812...102,271,753 		JBrowse link
G Il2rg interleukin 2 receptor subunit gamma ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:66,395,330...66,399,026
Ensembl chr  X:66,392,542...66,399,823 		JBrowse link
G Ints6l integrator complex subunit 6 like ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:134,258,117...134,325,706
Ensembl chr  X:134,258,125...134,309,617 		JBrowse link
G Irak1 interleukin-1 receptor-associated kinase 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:151,768,621...151,778,521
Ensembl chr  X:151,768,777...151,778,521 		JBrowse link
G Irs4 insulin receptor substrate 4 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:105,344,020...105,360,004 JBrowse link
G Itgb1bp2 integrin subunit beta 1 binding protein 2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:66,572,537...66,577,174
Ensembl chr  X:66,572,537...66,577,174 		JBrowse link
G Itih6 inter-alpha-trypsin inhibitor heavy chain family member 6 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:19,753,322...19,790,381
Ensembl chr  X:19,753,625...19,789,500 		JBrowse link
G Itm2a integral membrane protein 2A ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:72,486,383...72,492,344
Ensembl chr  X:72,486,381...72,492,363 		JBrowse link
G Jpx JPX transcript, XIST activator ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:68,511,491...68,665,132 JBrowse link
G Kcne5 potassium voltage-gated channel subfamily E regulatory subunit 5 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:105,930,398...105,931,013
Ensembl chr  X:105,930,398...105,931,013 		JBrowse link
G Kiaa1210 KIAA1210 homolog ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:115,675,412...115,725,950
Ensembl chr  X:115,675,427...115,725,925 		JBrowse link
G Kif4a kinesin family member 4A ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:65,721,746...65,824,277
Ensembl chr  X:65,721,779...65,824,139 		JBrowse link
G Klf8 KLF transcription factor 8 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:17,950,045...18,132,980
Ensembl chr  X:17,958,843...18,133,182 		JBrowse link
G Klhl13 kelch-like family member 13 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:113,942,309...114,107,299
Ensembl chr  X:113,942,309...114,107,321 		JBrowse link
G Klhl4 kelch-like family member 4 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:79,429,193...79,719,482
Ensembl chr  X:79,622,113...79,719,480 		JBrowse link
G L1cam L1 cell adhesion molecule ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:151,597,270...151,623,776
Ensembl chr  X:151,597,277...151,623,857 		JBrowse link
G Lage3 L antigen family, member 3 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:152,138,209...152,139,632
Ensembl chr  X:152,138,218...152,139,632 		JBrowse link
G Lamp2 lysosomal-associated membrane protein 2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:117,173,097...117,222,090
Ensembl chr  X:117,057,606...117,260,522 		JBrowse link
G Las1l LAS1-like, ribosome biogenesis factor ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:60,851,969...60,873,717
Ensembl chr  X:60,851,962...60,873,687 		JBrowse link
G Ldoc1 LDOC1, regulator of NFKB signaling ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:139,965,509...140,074,355
Ensembl chr  X:139,965,509...140,074,355 		JBrowse link
G Lhfpl1 LHFPL tetraspan subfamily member 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:108,815,596...108,873,460
Ensembl chr  X:108,815,596...108,873,460 		JBrowse link
G LOC100912195 protein BEX1-like ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr 1:110,047,861...110,051,812 JBrowse link
G LOC120099525 small nucleolar RNA SNORA11 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:19,735,030...19,735,144
Ensembl chr  X:19,735,030...19,735,144 		JBrowse link
G Lonrf3 LON peptidase N-terminal domain and ring finger 3 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:115,565,214...115,603,886
Ensembl chr  X:115,565,267...115,598,809 		JBrowse link
G Lpar4 lysophosphatidic acid receptor 4 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:72,033,486...72,046,978
Ensembl chr  X:72,033,486...72,046,977 		JBrowse link
G Lrch2 leucine rich repeats and calponin homology domain containing 2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:111,091,728...111,174,225
Ensembl chr  X:111,092,814...111,174,210 		JBrowse link
G Luzp4 leucine zipper protein 4 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:111,280,490...111,321,363
Ensembl chr  X:111,280,549...111,321,359 		JBrowse link
G Magea10 MAGE family member A10 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:150,212,708...150,217,954
Ensembl chr  X:150,213,245...150,214,213 		JBrowse link
G Magea9 MAGE family member A9 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:142,619,282...142,624,654
Ensembl chr  X:142,619,395...142,624,653 		JBrowse link
G Magec2 MAGE family member C2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:140,610,610...140,615,484
Ensembl chr  X:140,606,825...140,615,471 		JBrowse link
G Maged2 MAGE family member D2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:19,733,593...19,741,769
Ensembl chr  X:19,733,597...19,740,477 		JBrowse link
G Magee1 MAGE family member E1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:70,189,242...70,192,789
Ensembl chr  X:70,189,187...70,192,810 		JBrowse link
G Magee2 MAGE family member E2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:69,885,751...69,944,824
Ensembl chr  X:69,942,533...69,944,657 		JBrowse link
G Mageh1 MAGE family member H1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:18,350,015...18,351,271
Ensembl chr  X:18,349,774...18,351,516 		JBrowse link
G Magt1 magnesium transporter 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:71,038,489...71,079,704
Ensembl chr  X:71,038,489...71,079,699 		JBrowse link
G Map7d3 MAP7 domain containing 3 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:134,619,227...134,647,525
Ensembl chr  X:134,619,227...134,685,841 		JBrowse link
G Mbnl3 muscleblind-like splicing regulator 3 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:130,641,942...130,737,179
Ensembl chr  X:130,648,538...130,737,056 		JBrowse link
G Mcf2 MCF.2 cell line derived transforming sequence ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:138,414,077...138,514,828
Ensembl chr  X:138,409,256...138,514,446 		JBrowse link
G Mcts1 MCTS1, re-initiation and release factor ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:117,350,723...117,362,504
Ensembl chr  X:117,350,889...117,362,504 		JBrowse link
G Mecp2 methyl CpG binding protein 2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:151,781,177...151,844,687
Ensembl chr  X:151,789,930...151,844,689 		JBrowse link
G Med12 mediator complex subunit 12 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:66,404,807...66,427,775
Ensembl chr  X:66,404,760...66,428,387 		JBrowse link
G Mid2 midline 2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:104,354,692...104,456,757
Ensembl chr  X:104,355,316...104,453,473 		JBrowse link
G Mir105 microRNA 105 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:150,438,529...150,438,601
Ensembl chr  X:150,438,529...150,438,601 		JBrowse link
G Mir106a microRNA 106a ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:132,422,584...132,422,661
Ensembl chr  X:132,422,584...132,422,661 		JBrowse link
G Mir19b2 microRNA 19b-2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:132,422,072...132,422,167
Ensembl chr  X:132,422,072...132,422,167 		JBrowse link
G Mir223 microRNA 223 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:61,141,887...61,141,996
Ensembl chr  X:61,141,887...61,141,996 		JBrowse link
G Mir224 microRNA 224 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:150,065,088...150,065,169
Ensembl chr  X:150,065,088...150,065,169 		JBrowse link
G Mir322 microRNA 322 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:132,806,594...132,806,688
Ensembl chr  X:132,806,594...132,806,688 		JBrowse link
G Mir448 microRNA 448 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:110,829,918...110,830,029
Ensembl chr  X:110,829,918...110,830,029 		JBrowse link
G Mir503 microRNA 503 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:132,806,303...132,806,373
Ensembl chr  X:132,806,303...132,806,373 		JBrowse link
G Mmgt1 membrane magnesium transporter 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:134,408,463...134,420,798
Ensembl chr  X:134,408,466...134,420,729 		JBrowse link
G Morc4 MORC family CW-type zinc finger 4 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:103,477,366...103,529,026
Ensembl chr  X:103,480,603...103,528,956 		JBrowse link
G Morf4l2 mortality factor 4 like 2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:100,082,562...100,093,658
Ensembl chr  X:100,082,404...100,093,728 		JBrowse link
G Mospd1 motile sperm domain containing 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:133,100,200...133,127,960
Ensembl chr  X:133,100,422...133,127,908
Ensembl chr 1:133,100,422...133,127,908
Ensembl chr14:133,100,422...133,127,908 		JBrowse link
G Mpp1 MAGUK p55 scaffold protein 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:2105106 PMID:31690835
G Msn moesin ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:60,996,043...61,064,011
Ensembl chr  X:60,995,951...61,065,628 		JBrowse link
G Mtcp1 mature T-cell proliferation 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr18:126,189...130,123 JBrowse link
G Mtm1 myotubularin 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr 6:488,923...506,882
Ensembl chr 6:488,969...506,860 		JBrowse link
G Mtmr1 myotubularin related protein 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr18:215,031...248,541
Ensembl chr18:215,089...248,541 		JBrowse link
G Naa10 N(alpha)-acetyltransferase 10, NatA catalytic subunit ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:151,656,056...151,661,304
Ensembl chr  X:151,656,056...151,661,252 		JBrowse link
G Nalf2 NALCN channel auxiliary factor 2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:64,925,100...64,951,074
Ensembl chr  X:64,925,051...64,951,077 		JBrowse link
G Nap1l2 nucleosome assembly protein 1-like 2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:68,174,051...68,176,449
Ensembl chr  X:68,173,987...68,176,666 		JBrowse link
G Nap1l3 nucleosome assembly protein 1-like 3 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:88,347,595...88,350,393
Ensembl chr  X:88,347,598...88,350,393 		JBrowse link
G Ndufa1 NADH:ubiquinone oxidoreductase subunit A1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:116,424,223...116,427,875
Ensembl chr  X:116,424,223...116,428,633 		JBrowse link
G Nexmif neurite extension and migration factor ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:69,088,076...69,219,253
Ensembl chr  X:69,088,076...69,112,930 		JBrowse link
G Nhsl2 NHS-like 2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:66,969,953...67,209,464
Ensembl chr  X:66,970,151...67,200,911 		JBrowse link
G Nkap NFKB activating protein ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:116,373,031...116,392,677
Ensembl chr  X:116,372,839...116,394,945 		JBrowse link
G Nkrf NFKB repressing factor ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:116,126,341...116,144,554
Ensembl chr  X:116,128,798...116,144,628 		JBrowse link
G Nlgn3 neuroligin 3 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:66,427,926...66,457,378
Ensembl chr  X:66,429,458...66,451,876 		JBrowse link
G Nono non-POU domain containing, octamer-binding ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:66,554,131...66,571,992
Ensembl chr  X:66,554,098...66,571,952 		JBrowse link
G Nox1 NADPH oxidase 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:97,279,058...97,332,291
Ensembl chr  X:97,279,056...97,302,236 		JBrowse link
G Nrk Nik related kinase ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:102,365,765...102,462,957
Ensembl chr  X:102,365,765...102,459,657 		JBrowse link
G Nsdhl NAD(P) dependent steroid dehydrogenase-like ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:150,775,034...150,807,161
Ensembl chr  X:150,775,080...150,807,142 		JBrowse link
G Nup62cl nucleoporin 62 C-terminal like ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:103,668,458...103,724,957
Ensembl chr  X:103,668,455...103,724,081 		JBrowse link
G Nxf2 nuclear RNA export factor 2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:98,135,953...98,157,117
Ensembl chr  X:98,135,950...98,157,089 		JBrowse link
G Nxf3 nuclear RNA export factor 3 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:99,025,901...99,050,409
Ensembl chr  X:99,025,901...99,039,261 		JBrowse link
G Nxf7 nuclear RNA export factor 7 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:98,535,374...98,552,562
Ensembl chr  X:98,535,375...98,552,526 		JBrowse link
G Nxt2 nuclear transport factor 2-like export factor 2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:105,855,616...105,862,902
Ensembl chr  X:105,855,608...105,862,899 		JBrowse link
G Ocrl OCRL, inositol polyphosphate-5-phosphatase ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:127,089,508...127,140,362
Ensembl chr  X:127,089,590...127,140,362 		JBrowse link
G Ogt O-linked N-acetylglucosamine (GlcNAc) transferase ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:66,771,278...66,816,148
Ensembl chr  X:66,771,349...66,816,146 		JBrowse link
G Ophn1 oligophrenin 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:63,599,746...63,976,678
Ensembl chr  X:63,603,042...63,976,633 		JBrowse link
G Opn1mw opsin 1, medium wave sensitive ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:151,905,056...151,925,419
Ensembl chr  X:151,905,096...151,925,388 		JBrowse link
G Otud6a OTU deubiquitinase 6A ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:65,514,113...65,516,287
Ensembl chr  X:65,514,191...65,515,063 		JBrowse link
G P2ry10 P2Y receptor family member 10 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:72,121,558...72,207,174
Ensembl chr  X:72,111,264...72,212,265 		JBrowse link
G P2ry4 pyrimidinergic receptor P2Y4 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:65,681,680...65,717,404
Ensembl chr  X:65,683,232...65,721,748 		JBrowse link
G Pabir2 PABIR family member 2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:132,989,124...133,015,625
Ensembl chr  X:132,989,124...133,015,580 		JBrowse link
G Pabir3 PABIR family member 3 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:133,020,162...133,083,801
Ensembl chr  X:133,020,190...133,083,805 		JBrowse link
G Pabpc1l2a poly(A) binding protein, cytoplasmic 1-like 2A ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:68,023,845...68,026,508 JBrowse link
G Pabpc1l2b poly(A) binding protein cytoplasmic 1 like 2B ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835
G Pabpc5 poly A binding protein, cytoplasmic 5 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:85,637,763...85,641,235
Ensembl chr  X:85,638,574...85,639,722 		JBrowse link
G Pak3 p21 (RAC1) activated kinase 3 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:107,116,308...107,374,342
Ensembl chr  X:107,260,898...107,368,314 		JBrowse link
G Pasd1 PAS domain containing repressor 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:149,617,933...149,639,214
Ensembl chr  X:149,620,972...149,638,675 		JBrowse link
G Pbdc1 polysaccharide biosynthesis domain containing 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:70,154,106...70,197,827
Ensembl chr  X:70,154,106...70,184,552 		JBrowse link
G Pcdh11x protocadherin 11 X-linked ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:86,058,348...86,751,078
Ensembl chr  X:86,058,394...86,747,036 		JBrowse link
G Pcdh19 protocadherin 19 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:96,767,686...96,873,477
Ensembl chr  X:96,771,947...96,873,524 		JBrowse link
G Pdzd11 PDZ domain containing 11 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:65,718,689...65,721,742
Ensembl chr  X:65,704,067...65,721,642 		JBrowse link
G Pdzd4 PDZ domain containing 4 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:151,530,390...151,560,779
Ensembl chr  X:151,530,390...151,560,826 		JBrowse link
G Pfkfb1 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:19,508,522...19,562,165
Ensembl chr  X:19,508,546...19,562,182 		JBrowse link
G Pgk1 phosphoglycerate kinase 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:71,271,454...71,287,429
Ensembl chr  X:71,271,440...71,287,418 		JBrowse link
G Pgrmc1 progesterone receptor membrane component 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:115,832,865...115,841,060
Ensembl chr  X:115,832,884...115,888,682 		JBrowse link
G Phf6 PHD finger protein 6 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:132,656,658...132,699,720
Ensembl chr  X:132,656,672...132,699,127 		JBrowse link
G Phka1 phosphorylase kinase regulatory subunit alpha 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:67,601,302...67,738,504
Ensembl chr  X:67,601,302...67,738,455 		JBrowse link
G Pin4 peptidylprolyl cis/trans isomerase, NIMA-interacting 4 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:67,232,066...67,238,709
Ensembl chr  X:67,232,081...67,238,702 		JBrowse link
G Pja1 praja ring finger ubiquitin ligase 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:64,580,938...64,585,846
Ensembl chr  X:64,580,849...64,585,833 		JBrowse link
G Plac1 placenta enriched 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:132,821,347...132,955,143
Ensembl chr  X:132,821,347...132,985,668 		JBrowse link
G Plp1 proteolipid protein 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:100,184,039...100,201,035
Ensembl chr  X:100,185,767...100,201,032 		JBrowse link
G Pls3 plastin 3 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:111,589,193...111,683,908
Ensembl chr  X:111,589,254...111,683,891 		JBrowse link
G Plxna3 plexin A3 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:152,115,699...152,131,608
Ensembl chr  X:152,115,819...152,131,603 		JBrowse link
G Plxnb3 plexin B3 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:151,493,832...151,508,688
Ensembl chr  X:151,494,207...151,508,674 		JBrowse link
G Pnck pregnancy up-regulated nonubiquitous CaM kinase ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:151,369,406...151,373,508
Ensembl chr  X:151,369,410...151,373,446 		JBrowse link
G Pnma3 PNMA family member 3 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:150,906,080...150,912,674
Ensembl chr  X:150,906,278...150,910,839 		JBrowse link
G Pnma5 PNMA family member 5 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:150,880,865...150,882,789
Ensembl chr  X:150,880,865...150,882,789 		JBrowse link
G Pnma6e PNMA family member 6E ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:151,103,531...151,108,630
Ensembl chr  X:151,103,755...151,106,037 		JBrowse link
G Pof1b POF1B, actin binding protein ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:77,683,128...77,749,827
Ensembl chr  X:77,683,128...77,749,688 		JBrowse link
G Pou3f4 POU class 3 homeobox 4 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:75,858,646...75,859,923
Ensembl chr  X:75,858,646...75,859,923 		JBrowse link
G Prps1 phosphoribosyl pyrophosphate synthetase 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:104,132,139...104,154,191
Ensembl chr  X:104,132,141...104,154,187 		JBrowse link
G Prr32 proline rich 32 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:123,978,010...123,979,928
Ensembl chr  X:123,977,985...123,979,942 		JBrowse link
G Prrg3 proline rich and Gla domain 3 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:149,666,498...149,689,353
Ensembl chr  X:149,670,257...149,677,373 		JBrowse link
G Psmd10 proteasome 26S subunit, non-ATPase 10 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:104,656,809...104,665,122
Ensembl chr  X:104,656,812...104,665,097 		JBrowse link
G Pwwp3b PWWP domain containing 3B ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:102,804,416...102,838,580
Ensembl chr  X:102,804,520...102,838,574 		JBrowse link
G Rab33a RAB33A, member RAS oncogene family ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:127,694,219...127,706,378
Ensembl chr  X:127,694,964...127,706,378 		JBrowse link
G Rab9b RAB9B, member RAS oncogene family ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:100,220,897...100,231,591
Ensembl chr  X:100,220,894...100,231,701 		JBrowse link
G Radx RPA1 related single stranded DNA binding protein, X-linked ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:103,089,284...103,176,840
Ensembl chr  X:103,089,284...103,176,838 		JBrowse link
G Rap2c RAP2C, member of RAS oncogene family ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:130,504,554...130,517,671
Ensembl chr  X:130,504,698...130,518,328 		JBrowse link
G Rbm41 RNA binding motif protein 41 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:103,605,732...103,660,381
Ensembl chr  X:103,608,585...103,660,381 		JBrowse link
G Rbmx RNA binding motif protein, X-linked ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:135,305,237...135,314,806
Ensembl chr  X:135,305,325...135,314,743 		JBrowse link
G Rbmx2 RNA binding motif protein, X-linked 2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:127,888,514...127,896,239
Ensembl chr  X:127,888,438...127,896,869 		JBrowse link
G Renbp renin binding protein ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:151,661,463...151,670,538
Ensembl chr  X:151,661,458...151,670,516 		JBrowse link
G Rhox13 Rhox homeobox family member 13 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:116,911,226...116,917,758
Ensembl chr  X:116,911,329...116,917,644 		JBrowse link
G Rhoxf2b Rhox homeobox family member 2B ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:116,507,488...116,514,240
Ensembl chr  X:116,507,488...116,513,870 		JBrowse link
G Ripply1 ripply transcriptional repressor 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:103,436,731...103,440,904
Ensembl chr  X:103,436,729...103,443,349 		JBrowse link
G Rlim ring finger protein, LIM domain interacting ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:68,983,259...69,004,368
Ensembl chr  X:68,988,375...69,004,271 		JBrowse link
G Rnf113a1 ring finger protein 113A1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:116,427,941...116,429,164
Ensembl chr  X:116,427,684...116,433,762 		JBrowse link
G Rnf128 ring finger protein 128 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:103,183,643...103,298,431
Ensembl chr  X:103,183,831...103,298,423 		JBrowse link
G Rpl10 ribosomal protein L10 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:152,054,562...152,056,769
Ensembl chr  X:152,054,452...152,056,761 		JBrowse link
G Rpl36a ribosomal protein L36A ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:97,766,179...97,768,892
Ensembl chr  X:97,766,179...97,768,892
Ensembl chr20:97,766,179...97,768,892 		JBrowse link
G Rpl39 ribosomal protein L39 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:116,327,216...116,330,211
Ensembl chr18:6,326,330...6,326,692
Ensembl chr  X:6,326,330...6,326,692
Ensembl chr  X:6,326,330...6,326,692
Ensembl chr15:6,326,330...6,326,692
Ensembl chr20:6,326,330...6,326,692
Ensembl chr 7:6,326,330...6,326,692 		JBrowse link
G Rps4x ribosomal protein S4, X-linked ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:67,298,522...67,302,965
Ensembl chr  X:67,298,525...67,303,019
Ensembl chr 4:67,298,525...67,303,019 		JBrowse link
G Rps6ka6 ribosomal protein S6 kinase A6 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:76,353,316...76,454,502
Ensembl chr  X:76,353,760...76,454,484 		JBrowse link
G RragB Ras-related GTP binding B ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:18,184,619...18,234,639
Ensembl chr  X:18,184,992...18,234,639 		JBrowse link
G Rtl3 retrotransposon Gag like 3 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:71,947,343...71,951,008
Ensembl chr  X:71,948,253...71,950,121 		JBrowse link
G Rtl4 retrotransposon Gag like 4 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:108,231,052...108,641,768
Ensembl chr  X:108,633,651...108,640,050 		JBrowse link
G Rtl5 retrotransposon Gag like 5 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:67,183,948...67,188,747
Ensembl chr  X:67,184,154...67,188,809 		JBrowse link
G Rtl8a retrotransposon Gag like 8A ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:133,414,027...133,415,240
Ensembl chr  X:133,414,030...133,415,240 		JBrowse link
G Rtl9 retrotransposon Gag like 9 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:106,708,454...106,720,607
Ensembl chr  X:106,714,868...106,719,794 		JBrowse link
G Sash3 SAM and SH3 domain containing 3 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:127,326,815...127,341,521
Ensembl chr  X:127,326,859...127,341,519 		JBrowse link
G Satl1 spermidine/spermine N1-acetyl transferase-like 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:77,453,357...77,469,100
Ensembl chr  X:77,453,357...77,469,158 		JBrowse link
G Septin6 septin 6 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:116,153,255...116,230,334
Ensembl chr  X:116,153,255...116,230,115 		JBrowse link
G Serpina7 serpin family A member 7 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:102,663,242...102,722,319
Ensembl chr  X:102,663,405...102,669,040 		JBrowse link
G Sh2d1a SH2 domain containing 1A ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:121,373,693...121,401,923 JBrowse link
G Sh3bgrl1 SH3 domain binding glutamate rich protein like 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:74,167,029...74,263,783
Ensembl chr  X:74,166,871...74,263,783 		JBrowse link
G Slc10a3 solute carrier family 10, member 3 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:152,154,757...152,158,563
Ensembl chr  X:152,151,076...152,162,958 		JBrowse link
G Slc16a2 solute carrier family 16 member 2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:68,725,365...68,848,572
Ensembl chr  X:68,723,261...68,848,771 		JBrowse link
G Slc25a14 solute carrier family 25 member 14 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:127,807,630...127,845,823
Ensembl chr  X:127,807,449...127,845,823 		JBrowse link
G Slc25a43 solute carrier family 25, member 43 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:115,977,437...116,011,789
Ensembl chr  X:115,977,510...116,011,205 		JBrowse link
G Slc25a5 solute carrier family 25 member 5 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:116,031,896...116,034,963
Ensembl chr  X:116,031,803...116,034,967 		JBrowse link
G Slc25a53 solute carrier family 25, member 53 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:100,306,917...100,319,662
Ensembl chr  X:100,306,915...100,319,863 		JBrowse link
G Slc6a14 solute carrier family 6 member 14 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:112,314,643...112,375,412
Ensembl chr  X:112,314,691...112,375,096 		JBrowse link
G Slc6a8 solute carrier family 6 member 8 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:151,384,675...151,393,979
Ensembl chr  X:151,384,675...151,393,979 		JBrowse link
G Slc7a3 solute carrier family 7 member 3 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:66,210,071...66,216,482
Ensembl chr  X:66,210,081...66,215,708 		JBrowse link
G Slc9a6 solute carrier family 9 member A6 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:134,430,677...134,486,747
Ensembl chr  X:134,420,756...134,485,375 		JBrowse link
G Slitrk2 SLIT and NTRK-like family, member 2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:145,246,448...145,259,983
Ensembl chr  X:145,246,460...145,271,220 		JBrowse link
G Slitrk4 SLIT and NTRK-like family, member 4 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:142,706,495...142,718,968
Ensembl chr  X:142,706,338...142,718,575 		JBrowse link
G Smarca1 SNF2 related chromatin remodeling ATPase 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:126,980,201...127,066,385
Ensembl chr  X:126,994,947...127,066,347 		JBrowse link
G Snx12 sorting nexin 12 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:66,226,995...66,356,945
Ensembl chr  X:66,227,053...66,356,950 		JBrowse link
G Sowahd sosondowah ankyrin repeat domain family member D ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:116,292,030...116,293,660
Ensembl chr  X:116,292,030...116,293,660 		JBrowse link
G Sox3 SRY-box transcription factor 3 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:139,308,608...139,310,687
Ensembl chr  X:139,309,329...139,310,678 		JBrowse link
G Spin2a spindlin family member 2A ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:17,511,018...17,513,001
Ensembl chr  X:17,511,022...17,513,001 		JBrowse link
G Spin2b spindlin family member 2B ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:17,190,573...17,192,351
Ensembl chr  X:17,180,474...17,192,351 		JBrowse link
G Spin4 spindlin family, member 4 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:59,888,728...59,892,817
Ensembl chr  X:59,891,581...59,892,330 		JBrowse link
G Srpk3 SRSF protein kinase 3 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:151,510,452...151,515,208
Ensembl chr  X:151,510,539...151,515,198 		JBrowse link
G Srpx2 sushi-repeat-containing protein, X-linked 2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:97,106,455...97,132,197
Ensembl chr  X:97,106,561...97,132,195 		JBrowse link
G Ssr4 signal sequence receptor subunit 4 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:151,524,191...151,528,218
Ensembl chr  X:151,524,009...151,528,202 		JBrowse link
G Stag2 STAG2 cohesin complex component ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:120,974,687...121,105,677
Ensembl chr  X:120,974,857...121,105,677 		JBrowse link
G Stard8 StAR-related lipid transfer domain containing 8 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:64,079,079...64,196,052
Ensembl chr  X:64,124,574...64,196,052 		JBrowse link
G Steep1 STING1 ER exit protein 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:116,087,626...116,114,159
Ensembl chr  X:116,060,929...116,114,159 		JBrowse link
G Stk26 serine/threonine kinase 26 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:130,325,064...130,375,674
Ensembl chr  X:130,310,885...130,374,291 		JBrowse link
G Sytl4 synaptotagmin-like 4 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:97,135,496...97,185,867
Ensembl chr  X:97,135,500...97,185,854 		JBrowse link
G Taf1 TATA-box binding protein associated factor 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:66,640,915...66,716,543
Ensembl chr  X:66,640,982...66,716,543 		JBrowse link
G Taf7l TATA-box binding protein associated factor 7-like ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:97,660,222...97,675,241
Ensembl chr  X:97,660,222...97,675,023 		JBrowse link
G Taf9b TATA-box binding protein associated factor 9b ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:71,289,290...71,300,142
Ensembl chr  X:71,289,290...71,300,604 		JBrowse link
G Tafazzin tafazzin, phospholipid-lysophospholipid transacylase ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:152,065,539...152,076,178
Ensembl chr  X:152,065,609...152,074,001 		JBrowse link
G Tbc1d8b TBC1 domain family member 8B ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:103,319,181...103,407,137
Ensembl chr  X:103,319,340...103,407,133 		JBrowse link
G Tbx22 T-box transcription factor 22 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:72,723,619...72,774,647
Ensembl chr  X:72,723,617...72,774,647 		JBrowse link
G Tceal1 transcription elongation factor A like 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:100,058,485...100,060,439
Ensembl chr  X:100,058,132...100,060,551 		JBrowse link
G Tceal3 transcription elongation factor A like 3 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:100,010,677...100,012,637
Ensembl chr  X:100,010,690...100,012,654
Ensembl chr  X:100,010,690...100,012,654 		JBrowse link
G Tceal5 transcription elongation factor A like 5 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:99,204,422...99,207,373
Ensembl chr  X:99,204,429...99,207,353 		JBrowse link
G Tceal7 transcription elongation factor A like 7 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:99,228,405...99,230,551
Ensembl chr  X:99,228,458...99,230,543 		JBrowse link
G Tceal8 transcription elongation factor A like 8 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:99,171,307...99,173,377
Ensembl chr  X:99,171,177...99,173,710 		JBrowse link
G Tceal9 transcription elongation factor A like 9 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:99,245,645...99,247,720
Ensembl chr  X:99,228,458...99,247,763 		JBrowse link
G Tcp11x2 t-complex 11 family, X-linked 2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:98,591,191...98,640,800
Ensembl chr  X:98,591,189...98,640,763 		JBrowse link
G Tenm1 teneurin transmembrane protein 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:121,400,466...122,289,877
Ensembl chr  X:121,403,649...122,290,207 		JBrowse link
G Tent5d terminal nucleotidyltransferase 5D ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:72,901,287...72,974,562
Ensembl chr  X:72,901,241...72,970,573 		JBrowse link
G Tex11 testis expressed 11 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:65,932,904...66,196,525
Ensembl chr  X:65,932,988...66,196,187 		JBrowse link
G Tex13a testis expressed 13A ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:101,598,992...101,601,951
Ensembl chr  X:101,600,495...101,601,933 		JBrowse link
G Tex13b testis expressed 13B ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:104,490,937...104,511,224
Ensembl chr  X:104,490,091...104,494,201 		JBrowse link
G Tex28 testis expressed 28 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:151,922,210...151,955,902
Ensembl chr  X:151,925,526...151,954,567 		JBrowse link
G Tgif2lx2 TGFB-induced factor homeobox 2-like, X-linked 2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:84,109,203...84,110,264
Ensembl chr  X:84,109,220...84,110,274 		JBrowse link
G Thoc2 THO complex subunit 2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:120,634,966...120,749,569
Ensembl chr  X:120,634,968...120,749,513 		JBrowse link
G Timm8a1 translocase of inner mitochondrial membrane 8A1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:97,717,932...97,722,170
Ensembl chr  X:97,717,920...97,721,960 		JBrowse link
G Tktl1 transketolase-like 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:151,954,261...151,987,208
Ensembl chr  X:151,954,175...151,987,208 		JBrowse link
G Tmem164 transmembrane protein 164 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:106,288,019...106,448,642
Ensembl chr  X:106,289,371...106,448,640 		JBrowse link
G Tmem185a transmembrane protein 185A ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:149,143,026...149,167,757
Ensembl chr  X:149,143,031...149,167,757 		JBrowse link
G Tmem255a transmembrane protein 255A ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:116,970,793...117,035,008
Ensembl chr  X:116,970,695...117,035,008 		JBrowse link
G Tmem35a transmembrane protein 35A ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:97,503,350...97,514,198
Ensembl chr  X:97,503,350...97,514,197 		JBrowse link
G Tmlhe trimethyllysine hydroxylase, epsilon ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr20:91,234...138,942
Ensembl chr20:91,272...140,386 		JBrowse link
G Tmsb15b2 thymosin beta 15B2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:100,298,705...100,300,820
Ensembl chr  X:100,298,514...100,300,886 		JBrowse link
G Tnmd tenomodulin ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:97,057,137...97,072,634
Ensembl chr  X:97,057,137...97,072,634 		JBrowse link
G Trex2 three prime repair exonuclease 2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:151,151,862...151,153,470
Ensembl chr  X:151,151,864...151,153,479 		JBrowse link
G Trmt2b tRNA methyltransferase 2 homolog B ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:97,425,712...97,483,821 JBrowse link
G Tro trophinin ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:19,563,395...19,574,507
Ensembl chr  X:19,563,517...19,572,953 		JBrowse link
G Trpc5 transient receptor potential cation channel, subfamily C, member 5 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:107,946,163...108,230,991
Ensembl chr  X:107,939,131...108,230,991 		JBrowse link
G Trpc5os TRPC5 opposite strand ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:108,025,172...108,044,201
Ensembl chr  X:108,024,924...108,046,581 		JBrowse link
G Tsc22d3 TSC22 domain family, member 3 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:104,217,898...104,277,886
Ensembl chr  X:104,217,925...104,276,861 		JBrowse link
G Tspan6 tetraspanin 6 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:97,092,394...97,099,659
Ensembl chr  X:97,092,388...97,099,309 		JBrowse link
G Ube2a ubiquitin-conjugating enzyme E2A ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:116,114,339...116,125,076
Ensembl chr  X:116,113,875...116,125,070 		JBrowse link
G Ubl4a ubiquitin-like 4A ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:152,151,242...152,154,094
Ensembl chr  X:152,151,460...152,154,069 		JBrowse link
G Ubqln2 ubiquilin 2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:17,853,086...17,856,505
Ensembl chr  X:17,853,114...17,856,505 		JBrowse link
G Upf3b UPF3B, regulator of nonsense mediated mRNA decay ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:116,335,308...116,353,332
Ensembl chr  X:116,335,308...116,353,236 		JBrowse link
G Uprt uracil phosphoribosyltransferase homolog ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:69,516,573...69,546,811
Ensembl chr  X:69,516,738...69,546,797 		JBrowse link
G Usp26 ubiquitin specific peptidase 26 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:131,317,200...131,363,964
Ensembl chr  X:131,319,194...131,363,970 		JBrowse link
G Usp51 ubiquitin specific peptidase 51 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:18,374,940...18,381,472
Ensembl chr  X:18,376,930...18,379,888 		JBrowse link
G Utp14a UTP14A small subunit processome component ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:127,439,282...127,464,634
Ensembl chr  X:127,439,268...127,464,633 		JBrowse link
G Vbp1 VHL binding protein 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835
G Vcf2 VCP nuclear cofactor family member 2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:19,310,182...19,393,156
Ensembl chr  X:19,349,560...19,378,486 		JBrowse link
G Vgll1 vestigial-like family member 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:134,979,657...134,996,007 JBrowse link
G Vma21 vacuolar ATPase assembly factor VMA21 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:149,491,709...149,501,010
Ensembl chr  X:149,491,738...149,499,272 		JBrowse link
G Vsig1 V-set and immunoglobulin domain containing 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:104,607,031...104,640,128
Ensembl chr  X:104,607,031...104,639,249 		JBrowse link
G Vsig4 V-set and immunoglobulin domain containing 4 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:61,144,926...61,170,212
Ensembl chr  X:61,144,928...61,170,212 		JBrowse link
G Vwf von Willebrand factor ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:25741868 NCBI chr 4:158,360,152...158,491,539
Ensembl chr 4:158,360,152...158,491,539 		JBrowse link
G Wdr44 WD repeat domain 44 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:114,481,890...114,587,307
Ensembl chr  X:114,482,006...114,587,224 		JBrowse link
G Xiap X-linked inhibitor of apoptosis ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:120,890,537...120,938,413
Ensembl chr  X:120,897,907...120,934,700 		JBrowse link
G Xist X inactive specific transcript ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:68,474,987...68,492,500 JBrowse link
G Xkrx XK related, X-linked ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:97,341,158...97,353,175
Ensembl chr  X:97,341,152...97,354,759 		JBrowse link
G Xpnpep2 X-prolyl aminopeptidase 2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:127,287,765...127,317,036
Ensembl chr  X:127,287,979...127,317,223 		JBrowse link
G Yipf6 Yip1 domain family, member 6 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:64,039,602...64,051,715
Ensembl chr  X:64,040,952...64,054,702 		JBrowse link
G Zbtb33 zinc finger and BTB domain containing 33 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:116,963,337...116,970,547
Ensembl chr  X:116,963,347...116,971,023 		JBrowse link
G Zc3h12b zinc finger CCCH-type containing 12B ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:60,615,616...60,849,278
Ensembl chr  X:60,615,682...60,844,832 		JBrowse link
G Zc4h2 zinc finger C4H2-type containing ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:60,525,706...60,546,519
Ensembl chr  X:60,525,712...60,546,488 		JBrowse link
G Zcchc12 zinc finger CCHC-type containing 12 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:115,433,444...115,436,691
Ensembl chr  X:115,433,259...115,436,692 		JBrowse link
G Zcchc13 zinc finger CCHC-type containing 13 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:68,643,568...68,644,671
Ensembl chr  X:68,643,549...68,665,131 		JBrowse link
G Zdhhc15 zinc finger DHHC-type palmitoyltransferase 15 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:69,568,086...69,701,756
Ensembl chr  X:69,574,124...69,701,756 		JBrowse link
G Zdhhc9 zinc finger DHHC-type palmitoyltransferase 9 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:127,352,340...127,388,245
Ensembl chr  X:127,352,345...127,388,245 		JBrowse link
G Zfp185 zinc finger protein 185 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:150,831,869...150,877,652
Ensembl chr  X:150,831,862...150,874,810 		JBrowse link
G Zfp280c zinc finger protein 280C ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:127,716,403...127,807,600
Ensembl chr  X:127,717,983...127,779,825 		JBrowse link
G Zfp449 zinc finger protein 449 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:134,120,820...134,140,921
Ensembl chr  X:134,122,636...134,140,924 		JBrowse link
G Zfp711 zinc finger protein 711 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:77,646,300...77,679,398
Ensembl chr  X:77,646,558...77,678,045 		JBrowse link
G Zfp75d zinc finger protein 75D ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:134,035,116...134,053,765
Ensembl chr  X:134,036,143...134,051,519 		JBrowse link
G Zfp92 ZFP92 zinc finger protein ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:151,116,794...151,142,451
Ensembl chr  X:151,117,102...151,143,177 		JBrowse link
G Zic3 Zic family member 3 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:136,123,662...136,129,627
Ensembl chr  X:136,124,026...136,134,746 		JBrowse link
G Zmat1 zinc finger, matrin-type 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:98,168,388...98,199,415
Ensembl chr  X:98,168,456...98,199,733 		JBrowse link
G Zmym3 zinc finger MYM-type containing 3 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:66,528,585...66,544,234
Ensembl chr  X:66,528,585...66,544,782 		JBrowse link
G Zxda zinc finger, X-linked, duplicated A ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:59,760,871...59,766,010
Ensembl chr  X:59,763,210...59,765,903
Ensembl chr  X:59,763,210...59,765,903 		JBrowse link
G Zxdb zinc finger, X-linked, duplicated B ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:59,700,765...59,706,737
Ensembl chr  X:59,701,178...59,703,871
Ensembl chr  X:59,701,178...59,703,871 		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
ISS		 DNA:missense mutation: :p.V262G (c.785T>G) (human)
ClinVar Annotator: match by term: BLEEDING DISORDER, PLATELET-TYPE, 1 | ClinVar Annotator: match by term: Bernard Soulier syndrome | ClinVar Annotator: match by term: Von Willebrand factor receptor deficiency
OMIM:231200
CTD Direct Evidence: marker/mechanism
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)		 OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:7579348 PMID:7819107 PMID:7855797 PMID:8950770 PMID:9233564 More... RGD:10450796, RGD:10450843, RGD:10450834, RGD:10450833, RGD:10450819, RGD:10450809, RGD:10450798 NCBI chr10:55,352,938...55,355,804
Ensembl chr10:55,352,899...55,356,774 		JBrowse link
G Gp1bb glycoprotein Ib platelet subunit beta severity ISO
ISS		 ClinVar Annotator: match by term: BLEEDING DISORDER, PLATELET-TYPE, 1 | ClinVar Annotator: match by term: Bernard Soulier syndrome
OMIM:231200
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:exon:c.281A>G(p.D94G)(human)
DNA:deletion:cds:
DNA:mutations:cds:p.Y88C,A108P(human)		 OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:10887115 PMID:17109744 PMID:25741868 PMID:28492532 PMID:31064749 More... RGD:13464128, RGD:11040530, RGD:11040529, RGD:11040528 NCBI chr11:82,378,216...82,379,393
Ensembl chr11:82,378,199...82,379,392 		JBrowse link
G Gp9 glycoprotein IX (platelet) severity ISO ClinVar Annotator: match by term: BLEEDING DISORDER, PLATELET-TYPE, 1 | ClinVar Annotator: match by term: Bernard Soulier syndrome | ClinVar Annotator: match by term: Von Willebrand factor receptor deficiency
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:c.182A>G(p.N61S)(human)
DNA:mutation:cds:p.C73Y(human)		 OMIM
ClinVar
CTD
RGD		 PMID:8049428 PMID:8481514 PMID:9163595 PMID:9432024 PMID:11167791 More... RGD:13464128, RGD:11040531 NCBI chr 4:120,235,500...120,237,110
Ensembl chr 4:120,235,421...120,237,110 		JBrowse link
G Vwf von Willebrand factor ISO RGD PMID:14717981 RGD:1580643 NCBI chr 4:158,360,152...158,491,539
Ensembl chr 4:158,360,152...158,491,539 		JBrowse link
G Wfdc21 WAP four-disulfide core domain 21 ISO ClinVar Annotator: match by term: BLEEDING DISORDER, PLATELET-TYPE, 1 | ClinVar Annotator: match by term: Bernard Soulier syndrome ClinVar PMID:10887115 PMID:17109744 PMID:25741868 PMID:28492532 PMID:31064749 More... NCBI chr10:68,627,836...68,633,705
Ensembl chr10:68,627,820...68,633,701 		JBrowse link
Bernard-Soulier Syndrome Type A1 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:1694864 PMID:1901273 PMID:2308962 PMID:7690774 PMID:7819107 More... NCBI chr10:55,352,938...55,355,804
Ensembl chr10:55,352,899...55,356,774 		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
OMIM		 PMID:1694864 PMID:1730088 PMID:7579348 PMID:7690774 PMID:7819107 More... NCBI chr10:55,352,938...55,355,804
Ensembl chr10:55,352,899...55,356,774 		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 chr10:55,352,938...55,355,804
Ensembl chr10:55,352,899...55,356,774 		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: Bernard-Soulier syndrome, type B | ClinVar Annotator: match by term: Macrothrombocytopenia, familial, Bernard-Soulier type ClinVar PMID:7633430 PMID:8703016 PMID:9116284 PMID:10887115 PMID:18414213 More... NCBI chr11:82,378,216...82,379,393
Ensembl chr11:82,378,199...82,379,392 		JBrowse link
G Wfdc21 WAP four-disulfide core domain 21 ISO ClinVar Annotator: match by term: Bernard-Soulier syndrome, type B | ClinVar Annotator: match by term: Macrothrombocytopenia, familial, Bernard-Soulier type ClinVar PMID:7633430 PMID:8703016 PMID:9116284 PMID:10887115 PMID:18414213 More... NCBI chr10:68,627,836...68,633,705
Ensembl chr10:68,627,820...68,633,701 		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
RGD		 PMID:8049428 PMID:8481514 PMID:9163595 PMID:9432024 PMID:9886312 More... RGD:1599275 NCBI chr 4:120,235,500...120,237,110
Ensembl chr 4:120,235,421...120,237,110 		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 containing 26 ISO ClinVar Annotator: match by term: Platelet disorder ClinVar PMID:23677566 PMID:25741868 PMID:28492532 PMID:28669401 PMID:31064749 More... NCBI chr 4:151,670,604...151,740,032
Ensembl chr 4:151,672,037...151,739,968 		JBrowse link
G Cd36 CD36 molecule ISO CD36 deficiency, OMIM:608404, DNA:point mutation, frameshift mutation
ClinVar Annotator: match by term: Platelet disorder		 ClinVar
RGD		 PMID:7533783 PMID:7686693 PMID:10946357 PMID:11019968 PMID:11718687 More... RGD:1600629 NCBI chr 4:17,317,343...17,410,084
Ensembl chr 4:17,354,466...17,513,903 		JBrowse link
G Fermt3 FERM domain containing kindlin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18278053 NCBI chr 1:204,189,483...204,207,683
Ensembl chr 1:204,189,484...204,207,587 		JBrowse link
G Gp6 glycoprotein VI ISO Sticky platelet syndrome type II;DNA:SNPs:introns: (rs1671153, rs1654419) (human)
Sticky platelet syndrome associated with Spontaneous Abortion;DNA:SNP:exon:g.55526345G>T (rs1671152) (human)
Sticky platelet syndrome associated with Spontaneous Abortion;DNA:SNPs:introns, exon:g.55527189T>G, g.55535881G>A, g.55536595A>G (rs1671153, rs1654419, rs1613662) (human)
Sticky platelet syndrome associated with Spontaneous Abortion;DNA:missense mutations:CDS:p.H322N, p.A249T, p.E237K (rs1671152, rs2304167, rs1654416) (human)
Sticky platelet syndrome type I associated with cerebral infarction;DNA:SNPs, haplotype:multiple (human)		 RGD PMID:22821001 PMID:26308704 PMID:22901851 PMID:28041267 PMID:23168074 RGD:401794137, RGD:11537847, RGD:401794455, RGD:401794417, RGD:401794413 NCBI chr 1:69,429,232...69,492,709
Ensembl chr 1:69,465,789...69,491,326 		JBrowse link
G Pla2g4a phospholipase A2 group 4A ISO CTD Direct Evidence: marker/mechanism CTD PMID:18451993 NCBI chr13:61,877,818...62,022,261
Ensembl chr13:61,877,813...62,022,266 		JBrowse link
G Runx1 RUNX family transcription factor 1 ISO ClinVar Annotator: match by term: Platelet disorder ClinVar PMID:10508512 PMID:11049997 PMID:11830488 PMID:12002768 PMID:22012064 More... NCBI chr11:31,839,880...32,074,427
Ensembl chr11:31,843,764...32,074,542 		JBrowse link
G Stxbp2 syntaxin binding protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30696774 NCBI chr12:1,689,364...1,701,145
Ensembl chr12:1,689,410...1,700,458 		JBrowse link
G Tbxa2r thromboxane A2 receptor ISO DNA:mutation:cds:p.R60L(human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:7929844 PMID:19828703 PMID:7929844 RGD:1578439 NCBI chr 7:8,383,347...8,390,753
Ensembl chr 7:8,383,378...8,388,176 		JBrowse link
Braddock-Carey Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kif15 kinesin family member 15 ISO ClinVar Annotator: match by term: Braddock-carey syndrome 2 OMIM
ClinVar		 PMID:25741868 PMID:28150392 NCBI chr 8:122,601,888...122,672,750
Ensembl chr 8:122,601,897...122,672,750 		JBrowse link
Brittle Cornea Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zfp469 zinc finger protein 469 ISO ClinVar Annotator: match by term: Brittle cornea syndrome ClinVar PMID:25741868 PMID:28492532 PMID:28518168 PMID:29228253 PMID:32461654 NCBI chr19:50,282,337...50,324,010 JBrowse link
brittle cornea syndrome 1 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 1 | ClinVar Annotator: match by term: Corneal fragility, keratoglobus, blue sclerae, joint hyperextensibility ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:95,075,736...95,237,921
Ensembl chr 4:95,075,768...95,238,301 		JBrowse link
G Zfp469 zinc finger protein 469 ISO
ISS		 ClinVar Annotator: match by term: Brittle cornea syndrome 1 | ClinVar Annotator: match by term: Corneal fragility, keratoglobus, blue sclerae, joint hyperextensibility | ClinVar Annotator: match by term: DYSGENESIS MESODERMALIS CORNEAE ET SCLERAE | ClinVar Annotator: match by term: EDS6B | ClinVar Annotator: match by term: ZNF469-related condition
OMIM:229200
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:5755738 PMID:7387950 PMID:18452888 PMID:19661234 PMID:20938016 More... NCBI chr19:5