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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 chr17:84,965,602...84,990,439
Ensembl chr17:84,965,662...84,990,439 		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 chr17:84,983,730...85,007,761
Ensembl chr17:84,983,730...85,007,761 		JBrowse link
G Actn1 actinin, alpha 1 ISO ClinVar Annotator: match by term: Abnormal bleeding ClinVar PMID:25741868 PMID:31064749 NCBI chr12:80,214,316...80,307,165
Ensembl chr12:80,214,321...80,307,145 		JBrowse link
G Acvrl1 activin A receptor, type II-like 1 ISO ClinVar Annotator: match by term: Abnormal bleeding ClinVar PMID:20501893 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr15:101,026,403...101,043,217
Ensembl chr15:101,026,403...101,043,217 		JBrowse link
G Adamts13 ADAM metallopeptidase with thrombospondin type 1 motif 13 ISO ClinVar Annotator: match by term: Abnormal bleeding ClinVar NCBI chr 2:26,863,363...26,899,638
Ensembl chr 2:26,863,428...26,899,640 		JBrowse link
G Ankrd26 ankyrin repeat domain 26 ISO ClinVar Annotator: match by term: Abnormal bleeding ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:118,478,261...118,539,244
Ensembl chr 6:118,478,269...118,539,187 		JBrowse link
G Ap3b1 adaptor-related protein complex 3, beta 1 subunit ISO ClinVar Annotator: match by term: Abnormal bleeding ClinVar PMID:25741868 PMID:28492532 PMID:32935436 NCBI chr13:94,492,332...94,702,838
Ensembl chr13:94,495,468...94,702,825 		JBrowse link
G Ap3d1 adaptor-related protein complex 3, delta 1 subunit ISO ClinVar Annotator: match by term: Abnormal bleeding ClinVar PMID:25741868 PMID:28492532 PMID:32935436 PMID:36430862 NCBI chr10:80,542,790...80,578,137
Ensembl chr10:80,542,790...80,578,098 		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 chr 5:145,051,066...145,064,996
Ensembl chr 5:145,051,025...145,067,515 		JBrowse link
G Arvcf armadillo repeat gene deleted in velocardiofacial syndrome ISO ClinVar Annotator: match by term: Abnormal bleeding ClinVar PMID:25741868 PMID:31064749 NCBI chr16:18,166,046...18,225,826
Ensembl chr16:18,166,046...18,225,826 		JBrowse link
G Col1a1 collagen, type I, alpha 1 ISO ClinVar Annotator: match by term: Abnormal bleeding ClinVar PMID:25741868 PMID:31064749 NCBI chr11:94,827,050...94,843,868
Ensembl chr11:94,827,050...94,843,868 		JBrowse link
G Col5a1 collagen, type V, alpha 1 ISO ClinVar Annotator: match by term: Abnormal bleeding ClinVar PMID:25741868 PMID:28492532 PMID:29924831 PMID:31064749 PMID:32938213 NCBI chr 2:27,776,393...27,929,522
Ensembl chr 2:27,776,437...27,929,526 		JBrowse link
G Col5a2 collagen, type V, alpha 2 ISO ClinVar Annotator: match by term: Abnormal bleeding ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:45,413,491...45,542,442
Ensembl chr 1:45,413,481...45,542,442 		JBrowse link
G Comt catechol-O-methyltransferase ISO ClinVar Annotator: match by term: Abnormal bleeding ClinVar PMID:25741868 PMID:31064749 NCBI chr16:18,225,632...18,247,006
Ensembl chr16:18,225,636...18,245,602 		JBrowse link
G Cycs cytochrome c, somatic ISO ClinVar Annotator: match by term: Abnormal bleeding ClinVar NCBI chr 6:50,539,543...50,543,549
Ensembl chr 6:50,539,543...50,543,518 		JBrowse link
G Dgcr8 DGCR8, microprocessor complex subunit ISO ClinVar Annotator: match by term: Abnormal bleeding ClinVar PMID:25741868 PMID:31064749 NCBI chr16:18,071,812...18,107,115
Ensembl chr16:18,071,812...18,107,110 		JBrowse link
G Dync2li1 dynein cytoplasmic 2 light intermediate chain 1 ISO ClinVar Annotator: match by term: Abnormal bleeding ClinVar NCBI chr17:84,933,903...84,962,996
Ensembl chr17:84,933,924...84,963,016 		JBrowse link
G Etv6 ets variant 6 ISO ClinVar Annotator: match by term: Abnormal bleeding ClinVar PMID:25741868 NCBI chr 6:134,012,663...134,247,121
Ensembl chr 6:134,012,663...134,247,121 		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 chr 8:13,087,308...13,106,676
Ensembl chr 8:13,087,308...13,106,676 		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 chr 8:45,693,696...45,715,092
Ensembl chr 8:45,694,211...45,715,068 		JBrowse link
G F13a1 coagulation factor XIII, A1 subunit ISO ClinVar Annotator: match by term: Abnormal bleeding ClinVar NCBI chr13:37,051,150...37,234,220
Ensembl chr13:37,051,152...37,234,220 		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 chr 1:163,979,396...164,048,539
Ensembl chr 1:163,979,407...164,047,846 		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 chr 8:13,075,499...13,085,809
Ensembl chr 8:13,076,034...13,085,809 		JBrowse link
G F8 coagulation factor VIII ISO ClinVar Annotator: match by term: Abnormal bleeding ClinVar PMID:25741868 PMID:31064749 NCBI chr  X:74,213,950...74,426,342
Ensembl chr  X:74,216,321...74,426,221 		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 3:82,933,460...82,940,934
Ensembl chr 3:82,933,383...82,940,934 		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 3:82,949,553...82,957,170
Ensembl chr 3:82,947,448...82,957,170 		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 3:82,915,031...82,922,363
Ensembl chr 3:82,915,031...82,922,356 		JBrowse link
G Fli1 Friend leukemia integration 1 ISO ClinVar Annotator: match by term: Abnormal bleeding ClinVar PMID:24100448 PMID:32581362 NCBI chr 9:32,333,500...32,454,292
Ensembl chr 9:32,333,500...32,454,157 		JBrowse link
G Flna filamin, alpha ISO ClinVar Annotator: match by term: Abnormal bleeding ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr  X:73,267,067...73,293,787
Ensembl chr  X:73,267,067...73,293,426 		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 3:89,110,235...89,119,944
Ensembl chr 3:89,110,235...89,116,273 		JBrowse link
G Gfi1b growth factor independent 1B ISO ClinVar Annotator: match by term: Abnormal bleeding ClinVar NCBI chr 2:28,499,462...28,511,994
Ensembl chr 2:28,499,462...28,511,994 		JBrowse link
G Ggcx gamma-glutamyl carboxylase IMP
ISO		 ClinVar Annotator: match by term: Abnormal bleeding ClinVar
RGD		 PMID:25741868 PMID:28492532 PMID:32935436 PMID:24520408 RGD:11040512 NCBI chr 6:72,391,262...72,407,696
Ensembl chr 6:72,391,291...72,407,695 		JBrowse link
G Gm14305 predicted gene 14305 ISO ClinVar Annotator: match by term: Abnormal bleeding ClinVar PMID:25741868 PMID:31064749 NCBI chr 2:176,400,146...176,413,606
Ensembl chr 2:176,400,121...176,413,606 		JBrowse link
G Gnas GNAS complex locus ISO CTD Direct Evidence: marker/mechanism CTD PMID:11583302 NCBI chr 2:174,126,113...174,188,537
Ensembl chr 2:174,126,113...174,188,537 		JBrowse link
G Gnb1l guanine nucleotide binding protein (G protein), beta polypeptide 1-like ISO ClinVar Annotator: match by term: Abnormal bleeding ClinVar PMID:25741868 PMID:31064749 NCBI chr16:18,316,029...18,385,430
Ensembl chr16:18,317,463...18,385,429 		JBrowse link
G Gp1ba glycoprotein 1b, alpha polypeptide ISO ClinVar Annotator: match by term: Abnormal bleeding ClinVar PMID:25741868 NCBI chr11:70,529,928...70,534,812
Ensembl chr11:70,529,948...70,532,862 		JBrowse link
G Gp1bb glycoprotein Ib, beta polypeptide ISO ClinVar Annotator: match by term: Abnormal bleeding ClinVar PMID:25741868 PMID:31064749 NCBI chr16:18,439,069...18,441,153
Ensembl chr16:18,439,067...18,441,153 		JBrowse link
G Gp6 glycoprotein 6 platelet ISO ClinVar Annotator: match by term: Abnormal bleeding ClinVar PMID:19549989 PMID:23815599 PMID:25741868 PMID:28492532 PMID:29232918 More... NCBI chr 7:4,365,852...4,400,849
Ensembl chr 7:4,366,964...4,400,743 		JBrowse link
G Hoxa11 homeobox A11 ISO ClinVar Annotator: match by term: Abnormal bleeding ClinVar NCBI chr 6:52,219,086...52,222,784
Ensembl chr 6:52,219,086...52,222,790 		JBrowse link
G Hps3 HPS3, biogenesis of lysosomal organelles complex 2 subunit 1 ISO ClinVar Annotator: match by term: Abnormal bleeding ClinVar NCBI chr 3:20,050,109...20,089,478
Ensembl chr 3:20,050,109...20,089,479 		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 7:46,409,890...46,445,501
Ensembl chr 7:46,409,890...46,445,488 		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 chr19:45,991,917...45,994,612
Ensembl chr19:45,991,947...45,994,612 		JBrowse link
G Hrg histidine-rich glycoprotein ISO ClinVar Annotator: match by term: Abnormal bleeding ClinVar NCBI chr16:22,769,822...22,780,409
Ensembl chr16:22,769,822...22,780,406 		JBrowse link
G Itga2b integrin alpha 2b ISO ClinVar Annotator: match by term: Abnormal bleeding ClinVar NCBI chr11:102,344,134...102,360,570
Ensembl chr11:102,344,123...102,360,948 		JBrowse link
G Itgb3 integrin beta 3 ISO ClinVar Annotator: match by term: Abnormal bleeding ClinVar PMID:25741868 PMID:28492532 PMID:31064749 NCBI chr11:104,498,826...104,561,302
Ensembl chr11:104,498,826...104,561,302 		JBrowse link
G Klhl22 kelch-like 22 ISO ClinVar Annotator: match by term: Abnormal bleeding ClinVar PMID:25741868 PMID:31064749 NCBI chr16:17,577,485...17,611,246
Ensembl chr16:17,577,482...17,611,246 		JBrowse link
G Klkb1 kallikrein B, plasma 1 ISO ClinVar Annotator: match by term: Abnormal bleeding ClinVar NCBI chr 8:45,719,725...45,747,872
Ensembl chr 8:45,719,726...45,747,896 		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 chr13:13,764,896...13,953,388
Ensembl chr13:13,764,982...13,953,388 		JBrowse link
G Mcfd2 multiple coagulation factor deficiency 2 ISO ClinVar Annotator: match by term: Abnormal bleeding ClinVar NCBI chr17:87,561,871...87,573,382
Ensembl chr17:87,561,871...87,573,363 		JBrowse link
G Mecom MDS1 and EVI1 complex locus ISO ClinVar Annotator: match by term: Abnormal bleeding ClinVar PMID:28492532 PMID:32935436 NCBI chr 3:30,005,445...30,563,937
Ensembl chr 3:30,005,445...30,602,157 		JBrowse link
G Med12l mediator complex subunit 12-like ISO ClinVar Annotator: match by term: Abnormal bleeding ClinVar NCBI chr 3:58,912,820...59,225,867
Ensembl chr 3:58,913,246...59,226,103 		JBrowse link
G Med15 mediator complex subunit 15 ISO ClinVar Annotator: match by term: Abnormal bleeding ClinVar PMID:25741868 PMID:31064749 NCBI chr16:17,469,072...17,540,811
Ensembl chr16:17,469,072...17,550,755 		JBrowse link
G Mpig6b megakaryocyte and platelet inhibitory receptor G6b ISO ClinVar Annotator: match by term: Abnormal bleeding ClinVar NCBI chr17:35,281,669...35,285,761
Ensembl chr17:35,281,669...35,285,160 		JBrowse link
G Mpl myeloproliferative leukemia virus oncogene ISO ClinVar Annotator: match by term: Abnormal bleeding ClinVar PMID:11972523 PMID:16470591 PMID:21659346 PMID:24728327 PMID:25741868 More... NCBI chr 4:118,299,609...118,314,771
Ensembl chr 4:118,299,612...118,314,710 		JBrowse link
G Myh9 myosin, heavy polypeptide 9, non-muscle ISO ClinVar Annotator: match by term: Abnormal bleeding ClinVar PMID:10739770 PMID:10973259 PMID:10973260 PMID:11159552 PMID:11590545 More... NCBI chr15:77,644,788...77,726,315
Ensembl chr15:77,644,787...77,726,375 		JBrowse link
G Nbea neurobeachin ISO ClinVar Annotator: match by term: Abnormal bleeding ClinVar NCBI chr 3:55,532,616...56,091,169
Ensembl chr 3:55,532,616...56,091,122 		JBrowse link
G Nbeal2 neurobeachin-like 2 ISO ClinVar Annotator: match by term: Abnormal bleeding ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:110,453,857...110,483,229
Ensembl chr 9:110,453,857...110,483,229 		JBrowse link
G P2ry12 purinergic receptor P2Y, G-protein coupled 12 ISO ClinVar Annotator: match by term: Abnormal bleeding ClinVar NCBI chr 3:59,123,692...59,170,408
Ensembl chr 3:59,123,693...59,170,292 		JBrowse link
G Pcid2 PCI domain containing 2 ISO ClinVar Annotator: match by term: Abnormal bleeding ClinVar NCBI chr 8:13,125,476...13,155,343
Ensembl chr 8:13,127,189...13,155,459 		JBrowse link
G Pi4ka phosphatidylinositol 4-kinase alpha ISO ClinVar Annotator: match by term: Abnormal bleeding ClinVar PMID:25741868 PMID:31064749 NCBI chr16:17,098,215...17,224,178
Ensembl chr16:17,098,215...17,224,178 		JBrowse link
G Plat plasminogen activator, tissue ISO ClinVar Annotator: match by term: Abnormal bleeding ClinVar NCBI chr 8:23,247,655...23,272,864
Ensembl chr 8:23,247,743...23,272,860 		JBrowse link
G Plg plasminogen ISO ClinVar Annotator: match by term: Abnormal bleeding ClinVar PMID:25741868 PMID:28492532 PMID:34355501 NCBI chr17:12,597,496...12,638,271
Ensembl chr17:12,597,495...12,638,272 		JBrowse link
G Pros1 protein S (alpha) ISO ClinVar Annotator: match by term: Abnormal bleeding ClinVar PMID:8943854 PMID:9651142 PMID:20880255 PMID:25741868 PMID:28492532 More... NCBI chr16:62,674,670...62,749,709
Ensembl chr16:62,674,670...62,749,709 		JBrowse link
G Proz protein Z, vitamin K-dependent plasma glycoprotein ISO ClinVar Annotator: match by term: Abnormal bleeding ClinVar NCBI chr 8:13,110,583...13,126,026
Ensembl chr 8:13,110,914...13,126,026 		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 chr 5:121,268,596...121,329,460
Ensembl chr 5:121,268,596...121,329,460 		JBrowse link
G Ranbp1 RAN binding protein 1 ISO ClinVar Annotator: match by term: Abnormal bleeding ClinVar PMID:25741868 PMID:31064749 NCBI chr16:18,057,843...18,066,558
Ensembl chr16:18,057,648...18,066,596 		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 chr19:6,449,038...6,465,243
Ensembl chr19:6,449,370...6,465,246 		JBrowse link
G Rtn4r reticulon 4 receptor ISO ClinVar Annotator: match by term: Abnormal bleeding ClinVar PMID:25741868 PMID:31064749 NCBI chr16:17,945,506...17,970,272
Ensembl chr16:17,945,506...17,970,272 		JBrowse link
G Runx1 runt related transcription factor 1 ISO ClinVar Annotator: match by term: Abnormal bleeding ClinVar PMID:10068652 PMID:11830488 PMID:12002768 PMID:17485549 PMID:17650443 More... NCBI chr16:92,398,354...92,622,962
Ensembl chr16:92,398,354...92,623,037 		JBrowse link
G Scarf2 scavenger receptor class F, member 2 ISO ClinVar Annotator: match by term: Abnormal bleeding ClinVar PMID:25741868 PMID:31064749 NCBI chr16:17,615,146...17,626,158
Ensembl chr16:17,615,146...17,626,157 		JBrowse link
G Septin5 septin 5 ISO ClinVar Annotator: match by term: Abnormal bleeding ClinVar PMID:25741868 PMID:31064749 NCBI chr16:18,440,561...18,448,688
Ensembl chr16:18,439,252...18,448,704 		JBrowse link
G Serpinc1 serine (or cysteine) peptidase inhibitor, clade C (antithrombin), member 1 ISO ClinVar Annotator: match by term: Abnormal bleeding ClinVar PMID:1906811 PMID:2012760 PMID:25741868 PMID:28492532 NCBI chr 1:160,806,153...160,830,113
Ensembl chr 1:160,806,155...160,833,433 		JBrowse link
G Serpind1 serine (or cysteine) peptidase inhibitor, clade D, member 1 ISO ClinVar Annotator: match by term: Abnormal bleeding ClinVar PMID:25741868 PMID:31064749 NCBI chr16:17,149,235...17,161,438
Ensembl chr16:17,149,235...17,161,439 		JBrowse link
G Serpine1 serine (or cysteine) peptidase inhibitor, clade E, member 1 ISO ClinVar Annotator: match by term: Abnormal bleeding ClinVar PMID:25741868 PMID:31064749 NCBI chr 5:137,090,358...137,101,126
Ensembl chr 5:137,090,358...137,101,122 		JBrowse link
G Serpinf2 serine (or cysteine) peptidase inhibitor, clade F, member 2 ISO ClinVar Annotator: match by term: Abnormal bleeding ClinVar PMID:25741868 PMID:31064749 NCBI chr11:75,322,562...75,330,327
Ensembl chr11:75,322,558...75,330,417 		JBrowse link
G Slc45a2 solute carrier family 45, member 2 ISO ClinVar Annotator: match by term: Abnormal bleeding ClinVar PMID:28492532 PMID:29345414 NCBI chr15:11,000,807...11,029,319
Ensembl chr15:11,000,807...11,029,319 		JBrowse link
G Slfn14 schlafen 14 ISO ClinVar Annotator: match by term: Abnormal bleeding ClinVar PMID:26280575 PMID:32581362 PMID:36790527 NCBI chr11:83,165,936...83,177,552
Ensembl chr11:83,165,936...83,177,552 		JBrowse link
G Smad4 SMAD family member 4 ISO ClinVar Annotator: match by term: Abnormal bleeding ClinVar NCBI chr18:73,767,861...73,836,862
Ensembl chr18:73,772,080...73,836,851 		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 chr 8:3,680,960...3,693,998
Ensembl chr 8:3,680,955...3,693,644 		JBrowse link
G Tango2 transport and golgi organization 2 ISO ClinVar Annotator: match by term: Abnormal bleeding ClinVar PMID:25741868 PMID:31064749 NCBI chr16:18,118,689...18,165,962
Ensembl chr16:18,118,689...18,165,967 		JBrowse link
G Tbx1 T-box 1 ISO ClinVar Annotator: match by term: Abnormal bleeding ClinVar PMID:25741868 PMID:31064749 NCBI chr16:18,399,729...18,409,412
Ensembl chr16:18,399,729...18,409,421 		JBrowse link
G Tbxa2r thromboxane A2 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19828703 NCBI chr10:81,164,102...81,171,008
Ensembl chr10:81,164,565...81,171,006 		JBrowse link
G Tbxas1 thromboxane A synthase 1, platelet ISO ClinVar Annotator: match by term: Abnormal bleeding ClinVar PMID:28492532 NCBI chr 6:38,817,897...39,061,524
Ensembl chr 6:38,852,338...39,061,519 		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 2:148,246,391...148,250,108
Ensembl chr 2:148,246,386...148,250,108 		JBrowse link
G Thpo thrombopoietin ISO ClinVar Annotator: match by term: Abnormal bleeding ClinVar PMID:25741868 PMID:31064749 PMID:32150607 NCBI chr16:20,543,204...20,553,261
Ensembl chr16:20,543,204...20,553,261 		JBrowse link
G Tpm4 tropomyosin 4 ISO ClinVar Annotator: match by term: Abnormal bleeding ClinVar NCBI chr 8:72,889,132...72,906,986
Ensembl chr 8:72,884,018...72,906,986 		JBrowse link
G Trmt2a TRM2 tRNA methyltransferase 2A ISO ClinVar Annotator: match by term: Abnormal bleeding ClinVar PMID:25741868 PMID:31064749 NCBI chr16:18,066,747...18,072,636
Ensembl chr16:18,066,543...18,072,636 		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 2:174,292,388...174,300,173
Ensembl chr 2:174,292,488...174,299,675 		JBrowse link
G Txnrd2 thioredoxin reductase 2 ISO ClinVar Annotator: match by term: Abnormal bleeding ClinVar PMID:25741868 PMID:31064749 NCBI chr16:18,245,167...18,297,823
Ensembl chr16:18,245,134...18,297,823 		JBrowse link
G Vps33b vacuolar protein sorting 33B ISO ClinVar Annotator: match by term: Abnormal bleeding ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:79,919,369...79,941,323
Ensembl chr 7:79,919,397...79,941,502 		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 6:125,529,911...125,663,642
Ensembl chr 6:125,523,737...125,663,642 		JBrowse link
G Was Wiskott-Aldrich syndrome ISO ClinVar Annotator: match by term: Abnormal bleeding ClinVar PMID:28492532 NCBI chr  X:7,947,705...7,956,730
Ensembl chr  X:7,947,692...7,956,737 		JBrowse link
G Zdhhc8 zinc finger, DHHC domain containing 8 ISO ClinVar Annotator: match by term: Abnormal bleeding ClinVar PMID:25741868 PMID:31064749 NCBI chr16:18,038,612...18,056,471
Ensembl chr16:18,038,617...18,053,000 		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 treatment ISO protein:increased expression:serum (rat) RGD PMID:25325345 PMID:25676919 RGD:11554179, RGD:11554180 NCBI chr 8:23,247,655...23,272,864
Ensembl chr 8:23,247,743...23,272,860 		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 serine (or cysteine) peptidase inhibitor, clade F, member 2 ISO
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Alpha-2-plasmin inhibitor deficiency
OMIM:262850		 OMIM
CTD
ClinVar
MouseDO		 PMID:2496145 PMID:7095605 PMID:10583218 NCBI chr11:75,322,562...75,330,327
Ensembl chr11:75,322,558...75,330,417 		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: AHUS, SUSCEPTIBILITY TO, 3 | 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 2:26,863,363...26,899,638
Ensembl chr 2:26,863,428...26,899,640 		JBrowse link
G Baat bile acid-Coenzyme A: amino acid N-acyltransferase ISO ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1 ClinVar PMID:17182750 PMID:20301541 NCBI chr 4:49,489,416...49,507,915
Ensembl chr 4:49,489,422...49,506,557 		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:37,719,660...37,724,020
Ensembl chr  X:37,719,662...37,723,964 		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 PMID:1577763 PMID:2249879 PMID:6308626 PMID:8181962 PMID:9616367 More... NCBI chr17:35,081,578...35,101,076
Ensembl chr17:35,081,580...35,117,241 		JBrowse link
G C3 complement component 3 IGI
ISO		 ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4 | 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, 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
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 chr17:57,510,967...57,535,136
Ensembl chr17:57,510,970...57,535,136 		JBrowse link
G C3ar1 complement component 3a receptor 1 ISO ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1 ClinVar NCBI chr 6:122,824,099...122,833,116
Ensembl chr 6:122,824,097...122,833,120 		JBrowse link
G Cd46 CD46 antigen, complement regulatory protein severity
susceptibility		 ISO DNA:mutations:cds:multiple (human)
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2 | 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 chr 1:194,721,279...194,781,149
Ensembl chr 1:194,719,134...194,774,557 		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 chr10:100,323,410...100,409,527
Ensembl chr10:100,323,420...100,410,702 		JBrowse link
G Cfb complement factor B 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: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome
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, 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 chr17:35,075,350...35,081,492
Ensembl chr17:35,075,350...35,081,494 		JBrowse link
G Cfh complement component factor h ISO
IAGP		 DNA:missense mutation
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, 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: 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:SNPs,Haplotype::		 ClinVar
OMIM
MouseDO
CTD
RGD		 PMID:646435 PMID:8072530 PMID:9536098 PMID:9551389 PMID:9811382 More... RGD:1599886, RGD:11041172, RGD:11041162, RGD:11040768, RGD:7364995 NCBI chr 1:140,013,593...140,111,149
Ensembl chr 1:140,012,446...140,111,502 		JBrowse link
G Cfhr1 complement factor H-related 1 susceptibility 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 chr 1:139,474,802...139,487,960
Ensembl chr 1:139,474,791...139,488,010 		JBrowse link
G Cfhr2 complement factor H-related 2 susceptibility ISO CTD Direct Evidence: marker/mechanism
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 | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1		 CTD
OMIM
ClinVar		 PMID:16998489 PMID:17367211 PMID:18006700 PMID:19745068 PMID:20843825 More... NCBI chr 1:139,738,030...139,786,437
Ensembl chr 1:139,731,905...139,786,456 		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 chr 1:139,625,657...139,708,977
Ensembl chr 1:139,625,361...139,708,981 		JBrowse link
G Cfi complement component factor i susceptibility ISO 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: 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: 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: 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 3:129,630,432...129,668,978
Ensembl chr 3:129,629,533...129,668,981 		JBrowse link
G Col4a3 collagen, type IV, alpha 3 ISO ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:11134255 PMID:12028435 PMID:24033266 PMID:25741868 PMID:26467025 More... NCBI chr 1:82,564,647...82,699,778
Ensembl chr 1:82,564,642...82,699,780 		JBrowse link
G Col4a4 collagen, type IV, alpha 4 ISO ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:9792860 PMID:11134255 PMID:11685592 PMID:11961012 PMID:12028435 More... NCBI chr 1:82,426,140...82,564,570
Ensembl chr 1:82,426,144...82,564,570 		JBrowse link
G Col4a5 collagen, type IV, alpha 5 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:140,258,367...140,472,232
Ensembl chr  X:140,258,381...140,472,230 		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 | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 7		 CTD
ClinVar		 PMID:23274426 PMID:23542698 PMID:24511134 PMID:24747643 PMID:25135762 More... NCBI chr11:88,926,005...88,951,644
Ensembl chr11:88,926,005...88,957,676 		JBrowse link
G Hbb-b1 hemoglobin, beta adult major chain ISO ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:893142 PMID:1726094 PMID:7558877 PMID:25741868
G Lamb2 laminin, beta 2 ISO ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:108,357,080...108,367,729
Ensembl chr 9:108,356,935...108,367,729 		JBrowse link
G Mmachc methylmalonic aciduria cblC type, with homocystinuria 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 4:116,559,631...116,565,582
Ensembl chr 4:116,559,476...116,565,603 		JBrowse link
G Myh9 myosin, heavy polypeptide 9, non-muscle ISO ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr15:77,644,788...77,726,315
Ensembl chr15:77,644,787...77,726,375 		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 chr11:59,432,395...59,457,781
Ensembl chr11:59,432,394...59,457,782 		JBrowse link
G Nphp3 nephronophthisis 3 (adolescent) ISO ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:25741868 PMID:26184788 PMID:28492532 NCBI chr 9:103,879,743...103,921,010
Ensembl chr 9:103,879,743...103,921,017 		JBrowse link
G Nphp4 nephronophthisis 4 (juvenile) homolog (human) ISO ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:152,561,163...152,647,641
Ensembl chr 4:152,561,163...152,647,640 		JBrowse link
G Pla2r1 phospholipase A2 receptor 1 ISO ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:25741868 NCBI chr 2:60,247,887...60,383,669
Ensembl chr 2:60,247,887...60,383,652 		JBrowse link
G Plg plasminogen ISO ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr17:12,597,496...12,638,271
Ensembl chr17:12,597,495...12,638,272 		JBrowse link
G Smarcal1 SWI/SNF related matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 ISO ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:28492532 PMID:28844315 NCBI chr 1:72,575,593...72,675,949
Ensembl chr 1:72,622,410...72,672,293 		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 2:148,246,391...148,250,108
Ensembl chr 2:148,246,386...148,250,108 		JBrowse link
G Tmem67 transmembrane protein 67 ISO ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:12,039,355...12,090,020
Ensembl chr 4:12,039,363...12,090,020 		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 9:8,543,868...8,680,753
Ensembl chr 9:8,544,143...8,680,742 		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 2:104,956,874...105,003,959
Ensembl chr 2:104,956,874...105,003,961 		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 2:26,863,363...26,899,638
Ensembl chr 2:26,863,428...26,899,640 		JBrowse link
G Alb albumin ISO RGD PMID:6683982 RGD:11036083 NCBI chr 5:90,608,729...90,624,461
Ensembl chr 5:90,608,756...90,624,461 		JBrowse link
G Cd40 CD40 antigen ISO protein:increased expression:peripheral blood, B lymphocyte (human) RGD PMID:17654056 RGD:11344977 NCBI chr 2:164,897,535...164,913,574
Ensembl chr 2:164,897,547...164,914,868 		JBrowse link
G Cd40lg CD40 ligand treatment ISO
IEP		 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:56,257,448...56,269,402
Ensembl chr  X:56,257,503...56,269,402 		JBrowse link
G Cd86 CD86 antigen treatment ISO protein:increased expression:peripheral blood mononuclear cell (human) RGD PMID:19379594 PMID:20581660 RGD:11354966, RGD:11520785 NCBI chr16:36,389,318...36,486,439
Ensembl chr16:36,424,231...36,486,443 		JBrowse link
G Dnmt3a DNA methyltransferase 3A ISO mRNA:decreased expression:mononuclear cell RGD PMID:18683034 RGD:9588662 NCBI chr12:3,851,559...3,964,442
Ensembl chr12:3,856,007...3,964,443 		JBrowse link
G Dnmt3b DNA methyltransferase 3B susceptibility ISO mRNA:decreased expression:mononuclear cell
DNA:SNP:promoter: -579G>T(human)		 RGD PMID:18683034 PMID:23000068 RGD:9588662, RGD:9589094 NCBI chr 2:153,491,332...153,529,650
Ensembl chr 2:153,491,370...153,529,650 		JBrowse link
G Fas Fas cell surface death receptor ISO protein:increased expression:serum: RGD PMID:10776692 RGD:11049162 NCBI chr19:34,267,926...34,305,175
Ensembl chr19:34,268,066...34,305,172 		JBrowse link
G Fcgr2b Fc receptor, IgG, low affinity IIb treatment
disease_progression		 ISO
IMP
IDA		 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 chr 1:170,786,186...170,804,141
Ensembl chr 1:170,786,186...170,804,116 		JBrowse link
G Fcgr3 Fc receptor, IgG, low affinity III no_association
susceptibility
treatment		 IMP
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 chr 1:170,878,738...170,893,477
Ensembl chr 1:170,878,743...170,892,504 		JBrowse link
G Fcgr4 Fc receptor, IgG, low affinity IV treatment
susceptibility		 ISO
IGI		 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 chr 1:170,846,495...170,857,330
Ensembl chr 1:170,846,489...170,857,330 		JBrowse link
G Gp1ba glycoprotein 1b, alpha polypeptide IMP RGD PMID:16861348 RGD:10450841 NCBI chr11:70,529,928...70,534,812
Ensembl chr11:70,529,948...70,532,862 		JBrowse link
G H2-Ab1 histocompatibility 2, class II antigen A, beta 1 treatment ISO DNA:polymorphisms:cds:HLA-DQB1*0401 (human) RGD PMID:10435723 RGD:11041758 NCBI chr17:34,482,201...34,488,392
Ensembl chr17:34,476,663...34,488,393 		JBrowse link
G H2-Eb1 histocompatibility 2, class II antigen E beta treatment ISO DNA:polymorphisms:cds:HLA-DRB1*0901, HLA-DRB1*0410 (human) RGD PMID:10435723 RGD:11041758 NCBI chr17:34,524,841...34,535,648
Ensembl chr17:34,524,841...34,535,648 		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 chr 1:130,947,459...130,952,707
Ensembl chr 1:130,947,582...130,952,711 		JBrowse link
G Il18 interleukin 18 ISO protein:increased expression:plasma: RGD PMID:24801815 RGD:11073600 NCBI chr 9:50,466,000...50,493,141
Ensembl chr 9:50,466,127...50,493,140 		JBrowse link
G Il1a interleukin 1 alpha ISO DNA:SNP:promoter:-899C>T (human) RGD PMID:21591983 RGD:11051966 NCBI chr 2:129,141,530...129,151,892
Ensembl chr 2:129,141,530...129,151,892 		JBrowse link
G Il1rn interleukin 1 receptor antagonist susceptibility ISO DNA:repeats:: RGD PMID:20626741 RGD:11528541 NCBI chr 2:24,226,872...24,241,503
Ensembl chr 2:24,226,865...24,241,506 		JBrowse link
G Il2 interleukin 2 susceptibility ISO DNA:polymorphism::-330T>G(human) RGD PMID:20626741 RGD:11528541 NCBI chr 3:37,174,862...37,180,103
Ensembl chr 3:37,174,672...37,180,108 		JBrowse link
G Il4 interleukin 4 disease_progression ISO DNA:repeat:intron RGD PMID:25051072 RGD:11041894 NCBI chr11:53,503,287...53,509,492
Ensembl chr11:53,493,809...53,509,496 		JBrowse link
G Itgb3 integrin beta 3 ISO
IMP		 RGD PMID:10936026 PMID:24258817 RGD:10755473, RGD:10755475 NCBI chr11:104,498,826...104,561,302
Ensembl chr11:104,498,826...104,561,302 		JBrowse link
G Mir130a microRNA 130a ISO RNA:decreased expression:PBMC RGD PMID:24801815 RGD:11073600 NCBI chr 2:84,571,459...84,571,522
Ensembl chr 2:84,571,459...84,571,522 		JBrowse link
G Mir409 microRNA 409 treatment ISO RGD PMID:23360331 RGD:10755694 NCBI chr12:109,709,592...109,709,670
Ensembl chr12:109,709,592...109,709,670 		JBrowse link
G Plat plasminogen activator, tissue ISO protein:increased expression:plasma (human) RGD PMID:2129164 RGD:11541072 NCBI chr 8:23,247,655...23,272,864
Ensembl chr 8:23,247,743...23,272,860 		JBrowse link
G Ptpn22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid) 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 3:103,763,891...103,819,568
Ensembl chr 3:103,767,111...103,819,563 		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 chr16:10,601,672...10,603,400
Ensembl chr16:10,600,104...10,603,400 		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 7:25,386,406...25,404,503
Ensembl chr 7:25,386,427...25,404,502 		JBrowse link
autosomal dominant macrothrombocytopenia TUBB1-related term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tubb1 tubulin, beta 1 class VI ISO ClinVar Annotator: match by term: 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 2:174,292,388...174,300,173
Ensembl chr 2:174,292,488...174,299,675 		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 polypeptide 9, non-muscle 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 | ClinVar Annotator: match by term: MYH9-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1449176 PMID:5011389 PMID:8280620 PMID:9390828 PMID:9536098 More... NCBI chr15:77,644,788...77,726,315
Ensembl chr15:77,644,787...77,726,375 		JBrowse link
autosomal hemophilia A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F8 coagulation factor VIII ISO ClinVar Annotator: match by term: Mild hemophilia A ClinVar PMID:29357978 NCBI chr  X:74,213,950...74,426,342
Ensembl chr  X:74,216,321...74,426,221 		JBrowse link
Bernard-Soulier syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gp1ba glycoprotein 1b, alpha polypeptide susceptibility
treatment		 ISO
IAGP		 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
CTD Direct Evidence: marker/mechanism
OMIM:231200
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
CTD
MouseDO
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 chr11:70,529,928...70,534,812
Ensembl chr11:70,529,948...70,532,862 		JBrowse link
G Gp1bb glycoprotein Ib, beta polypeptide severity ISO
IAGP
IMP		 ClinVar Annotator: match by term: BLEEDING DISORDER, PLATELET-TYPE, 1 | ClinVar Annotator: match by term: Bernard Soulier syndrome
CTD Direct Evidence: marker/mechanism
OMIM:231200
DNA:missense mutation:exon:c.281A>G(p.D94G)(human)
DNA:deletion:cds:
DNA:mutations:cds:p.Y88C,A108P(human)		 OMIM
ClinVar
CTD
MouseDO
RGD		 PMID:10887115 PMID:17109744 PMID:25741868 PMID:28492532 PMID:31064749 More... RGD:13464128, RGD:11040530, RGD:11040529, RGD:11040528 NCBI chr16:18,439,069...18,441,153
Ensembl chr16:18,439,067...18,441,153 		JBrowse link
G Gp9 glycoprotein 9 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 6:87,753,115...87,756,768
Ensembl chr 6:87,755,054...87,756,750 		JBrowse link
G Vwf Von Willebrand factor ISO RGD PMID:14717981 RGD:1580643 NCBI chr 6:125,529,911...125,663,642
Ensembl chr 6:125,523,737...125,663,642 		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 1b, alpha polypeptide ISO ClinVar Annotator: match by term: Bernard-Soulier syndrome, type A1 ClinVar PMID:1694864 PMID:1901273 PMID:2308962 PMID:7690774 PMID:7819107 More... NCBI chr11:70,529,928...70,534,812
Ensembl chr11:70,529,948...70,532,862 		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 1b, alpha polypeptide susceptibility ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Bernard-Soulier syndrome, type A2, autosomal dominant		 CTD
OMIM
ClinVar		 PMID:1694864 PMID:1730088 PMID:7579348 PMID:7690774 PMID:7819107 More... NCBI chr11:70,529,928...70,534,812
Ensembl chr11:70,529,948...70,532,862 		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 1b, alpha polypeptide 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 chr11:70,529,928...70,534,812
Ensembl chr11:70,529,948...70,532,862 		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, beta polypeptide 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 chr16:18,439,069...18,441,153
Ensembl chr16:18,439,067...18,441,153 		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 9 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 6:87,753,115...87,756,768
Ensembl chr 6:87,755,054...87,756,750 		JBrowse link
blood platelet disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankrd26 ankyrin repeat domain 26 ISO ClinVar Annotator: match by term: Platelet disorder ClinVar PMID:23677566 PMID:25741868 PMID:28492532 PMID:28669401 PMID:31064749 More... NCBI chr 6:118,478,261...118,539,244
Ensembl chr 6:118,478,269...118,539,187 		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 5:17,986,680...18,093,828
Ensembl chr 5:17,986,688...18,093,799 		JBrowse link
G Fermt3 fermitin family member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18278053 NCBI chr19:6,976,326...6,996,837
Ensembl chr19:6,976,326...6,996,837 		JBrowse link
G Gp6 glycoprotein 6 platelet 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 7:4,365,852...4,400,849
Ensembl chr 7:4,366,964...4,400,743 		JBrowse link
G Pla2g4a phospholipase A2, group IVA (cytosolic, calcium-dependent) ISO CTD Direct Evidence: marker/mechanism CTD PMID:18451993 NCBI chr 1:149,705,369...149,837,041
Ensembl chr 1:149,705,369...149,837,041 		JBrowse link
G Runx1 runt related transcription factor 1 ISO ClinVar Annotator: match by term: Platelet disorder ClinVar PMID:10508512 PMID:11049997 PMID:11830488 PMID:12002768 PMID:22012064 More... NCBI chr16:92,398,354...92,622,962
Ensembl chr16:92,398,354...92,623,037 		JBrowse link
G Stxbp2 syntaxin binding protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30696774 NCBI chr 8:3,680,960...3,693,998
Ensembl chr 8:3,680,955...3,693,644 		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 chr10:81,164,102...81,171,008
Ensembl chr10:81,164,565...81,171,006 		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 9:122,780,146...122,847,798
Ensembl chr 9:122,780,111...122,847,798 		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 chr 8:122,770,009...122,999,389
Ensembl chr 8:122,985,359...122,999,389 		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 domain containing 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 6:65,754,640...65,914,606
Ensembl chr 6:65,755,972...65,913,994 		JBrowse link
G Zfp469 zinc finger protein 469 ISO
IAGP		 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: Fragilitas oculi with joint hyperextensibility | 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 chr 8:122,770,009...122,999,389
Ensembl chr 8:122,985,359...122,999,389 		JBrowse link
brittle cornea syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prdm5 PR domain containing 5 ISO ClinVar Annotator: match by term: Brittle cornea syndrome 2
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:8458232 PMID:9536098 PMID:17576681 PMID:21664999 PMID:22122778 More... NCBI chr 6:65,754,640...65,914,606
Ensembl chr 6:65,755,972...65,913,994 		JBrowse link
cavernous hemangioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccm2 cerebral cavernous malformation 2 ISO ClinVar Annotator: match by term: Cavernous hemangioma ClinVar PMID:25741868 NCBI chr11:6,496,887...6,546,761
Ensembl chr11:6,496,887...6,546,744 		JBrowse link
G Krit1 KRIT1, ankyrin repeat containing ISO ClinVar Annotator: match by term: Cavernous hemangioma ClinVar PMID:10508515 PMID:10545614 PMID:11222804 PMID:12404106 PMID:23595507 More... NCBI chr 5:3,853,156...3,894,515
Ensembl chr 5:3,853,184...3,895,564 		JBrowse link
G Pdcd10 programmed cell death 10 ISO ClinVar Annotator: match by term: Cavernous hemangioma ClinVar PMID:9536098 PMID:16329096 PMID:17576681 PMID:24466005 PMID:25122144 More... NCBI chr 3:75,423,797...75,464,159
Ensembl chr 3:75,423,797...75,464,163 		JBrowse link
cerebral cavernous malformation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akap9 A kinase anchor protein 9 ISO ClinVar Annotator: match by term: Cerebral cavernous malformation ClinVar NCBI chr 5:3,977,410...4,130,204
Ensembl chr 5:3,978,054...4,131,310 		JBrowse link
G Ankib1 ankyrin repeat and IBR domain containing 1 ISO ClinVar Annotator: match by term: Cerebral cavernous malformation ClinVar PMID:25741868 NCBI chr 5:3,739,999...3,853,124
Ensembl chr 5:3,740,000...3,852,925 		JBrowse link
G Ccm2 cerebral cavernous malformation 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cerebral cavernous malformation		 CTD
ClinVar		 PMID:18154020 PMID:25525273 PMID:25741868 PMID:28492532 NCBI chr11:6,496,887...6,546,761
Ensembl chr11:6,496,887...6,546,744 		JBrowse link
G Cyp51 cytochrome P450, family 51 ISO ClinVar Annotator: match by term: Cerebral cavernous malformation ClinVar NCBI chr 5:4,130,674...4,154,697
Ensembl chr 5:4,131,145...4,154,746 		JBrowse link
G Flt1 FMS-like tyrosine kinase 1 ISO protein:increased expression:endothelial cell: RGD PMID:11220380 RGD:8551824 NCBI chr 5:147,498,414...147,663,419
Ensembl chr 5:147,498,414...147,662,821 		JBrowse link
G Kdr kinase insert domain protein receptor ISO protein:increased expression:endothelial cell: RGD PMID:11220380 RGD:8551824 NCBI chr 5:76,093,487...76,139,880
Ensembl chr 5:76,093,487...76,139,118 		JBrowse link
G Krit1 KRIT1, ankyrin repeat containing susceptibility ISO
IAGP		 ClinVar Annotator: match by term: Cavernous Hemangioma of Brain | ClinVar Annotator: match by term: Cerebral cavernous malformation | ClinVar Annotator: match by term: Cerebral cavernous malformations
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD
MouseDO		 PMID:3393196 PMID:7898703 PMID:9065560 PMID:9536098 PMID:10508515 More... RGD:1598379, RGD:1358458 NCBI chr 5:3,853,156...3,894,515
Ensembl chr 5:3,853,184...3,895,564 		JBrowse link
G Lrrd1 leucine rich repeats and death domain containing 1 ISO ClinVar Annotator: match by term: Cerebral cavernous malformation ClinVar NCBI chr 5:3,895,173...3,916,596
Ensembl chr 5:3,895,173...3,916,596 		JBrowse link
G Notch3 notch 3 ISO ClinVar Annotator: match by term: Cerebral cavernous malformation ClinVar PMID:25741868 PMID:28492532 NCBI chr17:32,339,794...32,385,869
Ensembl chr17:32,339,794...32,385,826 		JBrowse link
G Pdcd10 programmed cell death 10 ISO ClinVar Annotator: match by term: Cavernous Hemangioma of Brain | ClinVar Annotator: match by term: Cerebral cavernous malformation ClinVar PMID:15543491 PMID:18035376 PMID:18300272 PMID:23485406 PMID:23595507 More... NCBI chr 3:75,423,797...75,464,159
Ensembl chr 3:75,423,797...75,464,163 		JBrowse link
G Pon1 paraoxonase 1 susceptibility ISO DNA:missense mutations:cds:p.L55M, p.Q192R (human) RGD PMID:26122242 RGD:11552573 NCBI chr 6:5,168,101...5,193,824
Ensembl chr 6:5,168,090...5,193,946 		JBrowse link
G Pten phosphatase and tensin homolog ISO protein:decreased expression:brain (human) RGD PMID:19061355 RGD:12859036 NCBI chr19:32,734,977...32,803,560
Ensembl chr19:32,734,897...32,803,560 		JBrowse link
G Serpini1 serine (or cysteine) peptidase inhibitor, clade I, member 1 ISO ClinVar Annotator: match by term: Cavernous Hemangioma of Brain | ClinVar Annotator: match by term: Cerebral cavernous malformation ClinVar PMID:25741868 NCBI chr 3:75,464,800...75,549,830
Ensembl chr 3:75,464,854...75,550,802 		JBrowse link
cerebral cavernous malformation 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krit1 KRIT1, ankyrin repeat containing ISO ClinVar Annotator: match by term: Cerebral cavernous malformation 1 | ClinVar Annotator: match by term: Cerebral cavernous malformations 1 | ClinVar Annotator: match by term: KRIT1-Related Disorders OMIM
ClinVar		 PMID:3393196 PMID:7898703 PMID:9065560 PMID:10508515 PMID:10545614 More... NCBI chr 5:3,853,156...3,894,515
Ensembl chr 5:3,853,184...3,895,564 		JBrowse link
G Pdcd10 programmed cell death 10 ISO ClinVar Annotator: match by term: Cerebral cavernous malformation 1 ClinVar PMID:25741868 NCBI chr 3:75,423,797...75,464,159
Ensembl chr 3:75,423,797...75,464,163 		JBrowse link
G Ptgis prostaglandin I2 (prostacyclin) synthase exacerbates ISO DNA:silent mutation:CDS:p.L256L (rs5628) (human) RGD PMID:26795600 RGD:401960081 NCBI chr 2:167,045,114...167,095,069
Ensembl chr 2:167,033,725...167,082,524 		JBrowse link
cerebral cavernous malformation 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccm2 cerebral cavernous malformation 2 ISO
IAGP		 ClinVar Annotator: match by term: Cerebral cavernous malformation 2
CTD Direct Evidence: marker/mechanism
OMIM:603284		 OMIM
ClinVar
CTD
MouseDO		 PMID:2468908 PMID:9536098 PMID:14624391 PMID:14740320 PMID:15122722 More... NCBI chr11:6,496,887...6,546,761
Ensembl chr11:6,496,887...6,546,744 		JBrowse link
G Nacad NAC alpha domain containing ISO ClinVar Annotator: match by term: Cerebral cavernous malformation 2 ClinVar PMID:17160895 PMID:28492532 NCBI chr11:6,547,814...6,556,059
Ensembl chr11:6,547,823...6,556,053 		JBrowse link
cerebral cavernous malformation 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pdcd10 programmed cell death 10 onset
exacerbates		 ISO
IAGP		 ClinVar Annotator: match by term: Cerebral cavernous malformation 3 | ClinVar Annotator: match by term: Cerebral cavernous malformations 3
DNA:deletion:CDS:c.506delA (human)
DNA:mutations:multiple (human)
DNA:SNPs:promoter: (rs9853967, rs11714980) (human)
DNA:nonsense mutation, frameshift mutations:CDS:multiple (human)
DNA:mutations:SNPs, duplications, deletions:multiple (human)
DNA:deletions, nonsense mutations:multiple (human)
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD
MouseDO
RGD		 PMID:9536098 PMID:15543491 PMID:16199547 PMID:16329096 PMID:16380626 More... RGD:401827173, RGD:401827115, RGD:401827114, RGD:401827108, RGD:401827103, RGD:401827102, RGD:329961304 NCBI chr 3:75,423,797...75,464,159
Ensembl chr 3:75,423,797...75,464,163 		JBrowse link
G Serpini1 serine (or cysteine) peptidase inhibitor, clade I, member 1 ISO ClinVar Annotator: match by term: Cerebral cavernous malformation 3 ClinVar NCBI chr 3:75,464,800...75,549,830
Ensembl chr 3:75,464,854...75,550,802 		JBrowse link
Cerebral Cavernous Malformation 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO ClinVar Annotator: match by term: Cerebral cavernous malformation 4 OMIM
ClinVar		 PMID:25741868 NCBI chr 3:32,451,203...32,520,256
Ensembl chr 3:32,451,820...32,522,635 		JBrowse link
Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col1a1 collagen, type I, alpha 1 ISO ClinVar Annotator: match by term: Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 | ClinVar Annotator: match by term: OIEDS SYNDROME 1 OMIM
ClinVar		 PMID:7695699 PMID:7942841 PMID:8218237 PMID:8456808 PMID:8613526 More... NCBI chr11:94,827,050...94,843,868
Ensembl chr11:94,827,050...94,843,868 		JBrowse link
Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col1a2 collagen, type I, alpha 2 ISO ClinVar Annotator: match by term: Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 | ClinVar Annotator: match by term: OIEDS SYNDROME 2 OMIM
ClinVar		 PMID:7695699 PMID:8218237 PMID:9016532 PMID:9536098 PMID:10027910 More... NCBI chr 6:4,505,618...4,541,543
Ensembl chr 6:4,504,814...4,541,544 		JBrowse link
congenital afibrinogenemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb11 ATP-binding cassette, sub-family B member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22120137 NCBI chr 2:69,068,626...69,172,960
Ensembl chr 2:69,068,626...69,172,958 		JBrowse link
G Cfi complement component factor i ISO ClinVar Annotator: match by term: Congenital afibrinogenemia | ClinVar Annotator: match by term: Factor I deficiency
ClinVar Annotator: match by term: Afibrinogenemia | ClinVar Annotator: match by term: Factor I deficiency		 ClinVar PMID:849647 PMID:8613545 PMID:9536098 PMID:15917334 PMID:16199547 More... NCBI chr 3:129,630,432...129,668,978
Ensembl chr 3:129,629,533...129,668,981 		JBrowse link
G Fga fibrinogen alpha chain ISO ClinVar Annotator: match by term: Afibrinogenemia | ClinVar Annotator: match by term: Congenital afibrinogenemia | ClinVar Annotator: match by term: Hypofibrinogenemia
ClinVar Annotator: match by term: Afibrinogenemia | ClinVar Annotator: match by term: Congenital afibrinogenemia | ClinVar Annotator: match by term: Factor I deficiency | ClinVar Annotator: match by term: Hypofibrinogenemia
CTD Direct Evidence: marker/mechanism
DNA:deletion:cds: (human)		 ClinVar
CTD
OMIM
RGD		 PMID:237956 PMID:1391954 PMID:2738154 PMID:3345340 PMID:3590111 More... RGD:5688762, RGD:11040559 NCBI chr 3:82,933,460...82,940,934
Ensembl chr 3:82,933,383...82,940,934 		JBrowse link
G Fgb fibrinogen beta chain ISO ClinVar Annotator: match by term: Congenital afibrinogenemia | ClinVar Annotator: match by term: FGB-related condition | ClinVar Annotator: match by term: Hypofibrinogenemia
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM
RGD		 PMID:1565641 PMID:3194892 PMID:10666208 PMID:10688828 PMID:11468164 More... RGD:737709 NCBI chr 3:82,949,553...82,957,170
Ensembl chr 3:82,947,448...82,957,170 		JBrowse link
G Fgg fibrinogen gamma chain ISO
IAGP		 DNA:snp:intron:IVS3+5G>A (human)
ClinVar Annotator: match by term: Afibrinogenemia | ClinVar Annotator: match by term: Congenital afibrinogenemia | ClinVar Annotator: match by term: FIBRINOGEN PARIS 1 | ClinVar Annotator: match by term: Hypofibrinogenemia
CTD Direct Evidence: marker/mechanism
OMIM:202400
DNA:nonsense mutation:exon:p.R134X (human)		 ClinVar
CTD
MouseDO
OMIM
RGD		 PMID:1249208 PMID:1471077 PMID:1733971 PMID:2512677 PMID:2617471 More... RGD:737710, RGD:11352676 NCBI chr 3:82,915,031...82,922,363
Ensembl chr 3:82,915,031...82,922,356 		JBrowse link
congenital amegakaryocytic thrombocytopenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mpl myeloproliferative leukemia virus oncogene IAGP
ISO		 OMIM:604498
ClinVar Annotator: match by term: Congenital amegakaryocytic thrombocytopenia
CTD Direct Evidence: marker/mechanism		 MouseDO
ClinVar
CTD		 PMID:971406 PMID:8073287 PMID:9536098 PMID:10077649 PMID:10971406 More... NCBI chr 4:118,299,609...118,314,771
Ensembl chr 4:118,299,612...118,314,710 		JBrowse link
Congenital Amegakaryocytic Thrombocytopenia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mpl myeloproliferative leukemia virus oncogene ISO ClinVar Annotator: match by term: Congenital amegakaryocytic thrombocytopenia 1 OMIM
ClinVar		 PMID:19036112 PMID:25538044 PMID:25741868 PMID:28492532 NCBI chr 4:118,299,609...118,314,771
Ensembl chr 4:118,299,612...118,314,710 		JBrowse link
Congenital Amegakaryocytic Thrombocytopenia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Thpo thrombopoietin ISO ClinVar Annotator: match by term: Amegakaryocytic thrombocytopenia, congenital, 2 OMIM
ClinVar		 PMID:24085763 PMID:25741868 PMID:28492532 PMID:28559357 PMID:29191945 More... NCBI chr16:20,543,204...20,553,261
Ensembl chr16:20,543,204...20,553,261 		JBrowse link
congenital disorder of glycosylation Ix term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Stt3b STT3, subunit of the oligosaccharyltransferase complex, homolog B (S. cerevisiae) ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CDG Ix | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1x		 OMIM
CTD
ClinVar		 PMID:9536098 PMID:17576681 PMID:23842455 PMID:25741868 PMID:28492532 More... NCBI chr 9:115,071,538...115,139,536
Ensembl chr 9:115,071,649...115,139,489 		JBrowse link
Congenital Dysfibrinogenemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fga fibrinogen alpha chain ISO ClinVar Annotator: match by term: Dysfibrinogenemia, congenital | ClinVar Annotator: match by term: FIBRINOGEN AARHUS 1 | ClinVar Annotator: match by term: FIBRINOGEN CARACAS 2
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1675636 PMID:1912564 PMID:2738154 PMID:3345340 PMID:3590111 More... NCBI chr 3:82,933,460...82,940,934
Ensembl chr 3:82,933,383...82,940,934 		JBrowse link
G Fgb fibrinogen beta chain ISO DNA:mutation:missense mutation:g.g.9692A>G(human)
ClinVar Annotator: match by term: Dysfibrinogenemia, congenital
CTD Direct Evidence: marker/mechanism
DNA:nonsense mutation:cds:p.w467X(human)		 ClinVar
CTD
OMIM
RGD		 PMID:10688828 PMID:19229055 PMID:19420351 PMID:20978265 PMID:21959590 More... RGD:10450765, RGD:10450766 NCBI chr 3:82,949,553...82,957,170
Ensembl chr 3:82,947,448...82,957,170 		JBrowse link
G Fgg fibrinogen gamma chain ISO DNA:deletion:intron:IVS9+1delG (human)
ClinVar Annotator: match by term: Dysfibrinogenemia | ClinVar Annotator: match by term: Dysfibrinogenemia, congenital | ClinVar Annotator: match by term: FIBRINOGEN BALTIMORE 3
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:exon:p.N308T (c.1001A>C) (human)		 ClinVar
CTD
OMIM
RGD		 PMID:1733971 PMID:2328317 PMID:2496144 PMID:2512677 PMID:2617471 More... RGD:11352672, RGD:11352691 NCBI chr 3:82,915,031...82,922,363
Ensembl chr 3:82,915,031...82,922,356 		JBrowse link
Congenital Hypodysfibrinogenemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fga fibrinogen alpha chain ISO ClinVar Annotator: match by term: FIBRINOGEN ROUEN 1 | ClinVar Annotator: match by term: Hypodysfibrinogenemia, congenital ClinVar PMID:2742828 PMID:4084461 PMID:6575689 PMID:9536098 PMID:10891444 More... NCBI chr 3:82,933,460...82,940,934
Ensembl chr 3:82,933,383...82,940,934 		JBrowse link
G Fgb fibrinogen beta chain ISO ClinVar Annotator: match by term: FIBRINOGEN BALTIMORE 2 | ClinVar Annotator: match by term: FIBRINOGEN CHRISTCHURCH 2 | ClinVar Annotator: match by term: FIBRINOGEN LONGMONT ClinVar PMID:1565641 PMID:3194892 PMID:11468164 PMID:23061815 PMID:24679643 More... NCBI chr 3:82,949,553...82,957,170
Ensembl chr 3:82,947,448...82,957,170 		JBrowse link
G Fgg fibrinogen gamma chain ISO DNA:missense mutation:exon:p.R375W (human)
ClinVar Annotator: match by term: FIBRINOGEN HAIFA 1 | ClinVar Annotator: match by term: FIBRINOGEN TOKYO 2 | ClinVar Annotator: match by term: Hypodysfibrinogenemia
DNA:frameshift mutation: :c.554delA (human)
DNA:missense mutations: :p.D316N, p.G366S (human)
DNA:missense mutation: :p.S313N (7590G>A) (human)
DNA:missense mutations:exon:p.W208L (g.5792G>T), p.K232T (g.5864A>C) (human)
DNA:missense mutation:exon:p.T277R (7482G>C) (human)
DNA:missense mutation:exon:p.A341D (human		 ClinVar
RGD		 PMID:1733971 PMID:2512677 PMID:2617471 PMID:2971042 PMID:2976995 More... RGD:11352674, RGD:11352694, RGD:11352682, RGD:11352681, RGD:11352680, RGD:11352678, RGD:11352675 NCBI chr 3:82,915,031...82,922,363
Ensembl chr 3:82,915,031...82,922,356 		JBrowse link
Congenital Prothrombin Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F2 coagulation factor II susceptibility ISO DNA:deletion, missense mutations:cds:
ClinVar Annotator: match by term: Congenital prothrombin deficiency | ClinVar Annotator: match by term: Hereditary factor II deficiency disease | ClinVar Annotator: match by term: Prolonged prothrombin time
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD
RGD		 PMID:444582 PMID:625142 PMID:1334372 PMID:1349838 PMID:1421398 More... RGD:11565075 NCBI chr 2:91,442,742...91,466,799
Ensembl chr 2:91,455,665...91,466,759 		JBrowse link
cryoglobulinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb1a ATP-binding cassette, sub-family B member 1A susceptibility ISO associated with hepatitis C;DNA:SNP: :3435C>T(human) RGD PMID:28453396 RGD:14700902 NCBI chr 5:8,617,091...8,798,575
Ensembl chr 5:8,710,077...8,798,575 		JBrowse link
G Cd86 CD86 antigen ISO associated with Hepatitis C, Chronic;protein:increased expression:peripheral blood, B cell (human) RGD PMID:23840845 RGD:11354974 NCBI chr16:36,389,318...36,486,439
Ensembl chr16:36,424,231...36,486,443 		JBrowse link
G Cxcl10 C-X-C motif chemokine ligand 10 ISO associated with hepatitis C; protein:increased expression:serum RGD PMID:18775023 RGD:27095893 NCBI chr 5:92,494,497...92,496,748
Ensembl chr 5:92,494,497...92,496,748 		JBrowse link
G Ifnl2 interferon lambda 2 susceptibility
severity		 ISO associated with Hepatitis C, Chronic;DNA:SNP:enhancer: (rs12979860) (human) RGD PMID:24293567 PMID:24293567 RGD:11528546, RGD:11528546 NCBI chr 7:28,208,209...28,209,957
Ensembl chr 7:28,208,261...28,209,880 		JBrowse link
G Tcn2 transcobalamin 2 ISO associated with Glomerulonephritis;protein:increased expression:serum: RGD PMID:3574578 RGD:11060121 NCBI chr11:3,867,077...3,882,078
Ensembl chr11:3,867,192...3,882,159 		JBrowse link
G Tnf tumor necrosis factor ISO protein:increased expression:serum RGD PMID:19860001 RGD:10450529 NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983 		JBrowse link
G Tslp thymic stromal lymphopoietin IAGP MouseDO NCBI chr18:32,948,436...32,952,852
Ensembl chr18:32,948,436...32,952,850 		JBrowse link
cryoglobulinemic vasculitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aicda activation-induced cytidine deaminase ISO associated with Chronic Hepatitis C; mRNA:increased expression:B cell, CD19-positive (human) RGD PMID:26219420 RGD:30296664 NCBI chr 6:122,530,768...122,541,139
Ensembl chr 6:122,530,760...122,541,139 		JBrowse link
G Tslp thymic stromal lymphopoietin ISO associated with Chronic Hepatitis C; mRNA, protein:increased expression:skin, serum (human) RGD PMID:25889007 RGD:38596329 NCBI chr18:32,948,436...32,952,852
Ensembl chr18:32,948,436...32,952,850 		JBrowse link
Diarrhea prodrome + Hemolytic-Uremic Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gp1ba glycoprotein 1b, alpha polypeptide ISO associated with Escherichia Coli Infections;DNA:SNP:exon: (rs121908064) (human) RGD PMID:29216383 RGD:42722620 NCBI chr11:70,529,928...70,534,812
Ensembl chr11:70,529,948...70,532,862 		JBrowse link
disseminated intravascular coagulation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamts13 ADAM metallopeptidase with thrombospondin type 1 motif 13 ISO protein:decreased expression, decreased activity:plasma (human) RGD PMID:16189276 RGD:10449048 NCBI chr 2:26,863,363...26,899,638
Ensembl chr 2:26,863,428...26,899,640 		JBrowse link
G Elane elastase, neutrophil expressed ISO protein:increased expression:plasma:
associated with Multiple Organ Failure, Craniocerebral Trauma;protein:increased expression:plasma:		 RGD PMID:20655560 PMID:10912863 RGD:10450544, RGD:10450545 NCBI chr10:79,722,146...79,724,050
Ensembl chr10:79,722,081...79,724,049 		JBrowse link
G F13a1 coagulation factor XIII, A1 subunit ISO RGD PMID:16642548 RGD:1581020 NCBI chr13:37,051,150...37,234,220
Ensembl chr13:37,051,152...37,234,220 		JBrowse link
G F2 coagulation factor II ISO CTD Direct Evidence: marker/mechanism
associated with Wounds and Injuries		 CTD
RGD		 PMID:1894189 PMID:22229668 PMID:23737601 PMID:1336986 PMID:19682336 RGD:6893489, RGD:10449432, RGD:10449429, RGD:10449422 NCBI chr 2:91,442,742...91,466,799
Ensembl chr 2:91,455,665...91,466,759 		JBrowse link
G F3 coagulation factor III ISO protein:increased expression:plasma
CTD Direct Evidence: marker/mechanism
mRNA, protein:increased expression:lung, plasma
associated with Leukemia, Myeloid		 CTD
RGD		 PMID:7740478 PMID:9134660 PMID:20642682 PMID:8914465 PMID:9426395 More... RGD:11060253, RGD:11060265, RGD:11341675 NCBI chr 3:121,517,186...121,528,701
Ensembl chr 3:121,517,186...121,528,697 		JBrowse link
G F7 coagulation factor VII ISO CTD Direct Evidence: marker/mechanism CTD PMID:16159073 NCBI chr 8:13,075,499...13,085,809
Ensembl chr 8:13,076,034...13,085,809 		JBrowse link
G Fga fibrinogen alpha chain treatment ISO protein:decreased expression:plasma (rat) RGD PMID:23538169 PMID:22800895 RGD:10755508, RGD:10755509 NCBI chr 3:82,933,460...82,940,934
Ensembl chr 3:82,933,383...82,940,934 		JBrowse link
G Gp6 glycoprotein 6 platelet ISO protein:increased expression:plasma (human) RGD PMID:24325877 RGD:401794444 NCBI chr 7:4,365,852...4,400,849
Ensembl chr 7:4,366,964...4,400,743 		JBrowse link
G Il10 interleukin 10 ISO protein:increased expression:plasma RGD PMID:16613997 RGD:11049462 NCBI chr 1:130,947,459...130,952,707
Ensembl chr 1:130,947,582...130,952,711 		JBrowse link
G Il6 interleukin 6 severity
treatment		 ISO associated with Hemorrhagic Fever, Crimean
protein:increased expression:plasma (rat)		 RGD PMID:16518755 PMID:16932226 PMID:16810104 PMID:16613997 RGD:10450536, RGD:11062099, RGD:11060278, RGD:11049462 NCBI chr 5:30,218,112...30,224,973
Ensembl chr 5:30,218,112...30,224,979 		JBrowse link
G Oxt oxytocin ISO CTD Direct Evidence: marker/mechanism CTD PMID:15547535 NCBI chr 2:130,416,432...130,418,974
Ensembl chr 2:130,418,093...130,418,974 		JBrowse link
G Plat plasminogen activator, tissue treatment ISO protein:increased expression:plasma (human)
associated with Jaundice, Obstructive		 RGD PMID:23726093 PMID:1425827 RGD:11541052, RGD:11541087 NCBI chr 8:23,247,655...23,272,864
Ensembl chr 8:23,247,743...23,272,860 		JBrowse link
G Proc protein C treatment IMP
ISO		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:18376272 PMID:9788960 PMID:10936861 RGD:11099993, RGD:11100014 NCBI chr18:32,256,179...32,272,623
Ensembl chr18:32,256,179...32,272,623 		JBrowse link
G Serpinc1 serine (or cysteine) peptidase inhibitor, clade C (antithrombin), member 1 treatment ISO associated with Endotoxemia
CTD Direct Evidence: marker/mechanism|therapeutic		 CTD
RGD		 PMID:6233579 PMID:8810955 PMID:9637888 PMID:2679067 RGD:11035251 NCBI chr 1:160,806,153...160,830,113
Ensembl chr 1:160,806,155...160,833,433 		JBrowse link
G Serpine1 serine (or cysteine) peptidase inhibitor, clade E, member 1 treatment ISO associated with Endotoxemia
protein:increased expression:blood (rat)		 RGD PMID:15869603 PMID:23737601 RGD:11080963, RGD:10449432 NCBI chr 5:137,090,358...137,101,126
Ensembl chr 5:137,090,358...137,101,122 		JBrowse link
G Tfpi tissue factor pathway inhibitor treatment ISO mRNA, protein:increased expression:lung, plasma
protein:increased expression:plasma:		 RGD PMID:11074537 PMID:8292719 PMID:8929465 PMID:9426395 PMID:8914465 RGD:11060128, RGD:11341674, RGD:11062067, RGD:11060265, RGD:11060253 NCBI chr 2:84,263,199...84,307,119
Ensembl chr 2:84,263,199...84,307,119 		JBrowse link
G Thbd thrombomodulin treatment ISO CTD Direct Evidence: therapeutic CTD
RGD		 PMID:9134660 PMID:21569368 PMID:23952647 RGD:5685034, RGD:11038686 NCBI chr 2:148,246,391...148,250,108
Ensembl chr 2:148,246,386...148,250,108 		JBrowse link
G Tnf tumor necrosis factor severity ISO associated with Hemorrhagic Fever, Crimean RGD PMID:16518755 RGD:10450536 NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983 		JBrowse link
Drug-Induced Immune Thrombocytopenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc2 ATP-binding cassette, sub-family member 2 susceptibility ISO associated with Carcinoma, Non-Small-Cell Lung;DNA:SNP, haplotype:promoter,cds: 3972C>T, -24C>T(human) RGD PMID:20943283 RGD:11080978 NCBI chr19:43,770,747...43,826,771
Ensembl chr19:43,770,631...43,829,179 		JBrowse link
G Dpyd dihydropyrimidine dehydrogenase treatment ISO associated with Neoplasms;DNA:SNP:intron:IVS14+1G>A (human)
associated with Stomach Neoplasms		 RGD PMID:19473056 PMID:23064955 RGD:11098817, RGD:11251740 NCBI chr 3:118,355,758...119,226,573
Ensembl chr 3:118,355,778...119,226,573 		JBrowse link
G Gstm1 glutathione S-transferase, mu 1 susceptibility
treatment		 ISO associated with Ovarian Neoplasms;DNA:deletion: : (human)
associated with diffuse large B-cell lymphoma; DNA:deletion:cds:		 RGD PMID:19786980 PMID:20303013 RGD:5688741, RGD:10450835 NCBI chr 3:107,919,566...107,925,289
Ensembl chr 3:107,919,571...107,925,289 		JBrowse link
G Gstt1 glutathione S-transferase, theta 1 treatment ISO associated with diffuse large B-cell lymphoma; DNA:deletion:cds: RGD PMID:20303013 RGD:10450835 NCBI chr10:75,619,647...75,634,418
Ensembl chr10:75,619,647...75,634,418 		JBrowse link
G Il1a interleukin 1 alpha treatment ISO associated with Carcinoma, Non-Small-Cell Lung
associated with Ovarian Neoplasms		 RGD PMID:7666093 PMID:8151314 RGD:11051963, RGD:11051964 NCBI chr 2:129,141,530...129,151,892
Ensembl chr 2:129,141,530...129,151,892 		JBrowse link
G Il1b interleukin 1 beta treatment ISO associated with Glioblastoma; RGD PMID:1331350 RGD:10450883 NCBI chr 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059 		JBrowse link
G Pecam1 platelet/endothelial cell adhesion molecule 1 severity ISO
IMP		 RGD PMID:10942385 PMID:17234740 RGD:11541093, RGD:11541120 NCBI chr11:106,545,039...106,606,107
Ensembl chr11:106,545,043...106,641,454 		JBrowse link
G Pf4 platelet factor 4 treatment ISO RGD PMID:31863655 RGD:329901923 NCBI chr 5:90,920,362...90,921,242
Ensembl chr 5:90,920,294...90,921,242 		JBrowse link
Ehlers-Danlos syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamts2 ADAM metallopeptidase with thrombospondin type 1 motif 2 susceptibility ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome ClinVar
RGD		 PMID:22863189 PMID:25741868 PMID:28346524 PMID:28492532 PMID:29843651 More... RGD:1598739 NCBI chr11:50,492,912...50,698,400
Ensembl chr11:50,492,911...50,698,400 		JBrowse link
G Atp7a ATPase, Cu++ transporting, alpha polypeptide ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome ClinVar PMID:10570920 PMID:11241493 PMID:18414213 PMID:20045993 PMID:23281160 More... NCBI chr  X:105,070,830...105,171,766
Ensembl chr  X:105,070,882...105,168,532 		JBrowse link
G B4galt7 beta-1,4-galactosyltransferase 7 susceptibility ISO DNA:transition:exon;808C>T
ClinVar Annotator: match by term: Ehlers-Danlos syndrome		 ClinVar
RGD		 PMID:25741868 PMID:28492532 PMID:31278392 PMID:31614862 PMID:10473568 RGD:1599433 NCBI chr13:55,747,709...55,758,258
Ensembl chr13:55,747,709...55,758,256 		JBrowse link
G C1rb complement component 1, r subcomponent B ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome ClinVar NCBI chr 6:124,547,389...124,558,003
Ensembl chr 6:124,547,253...124,558,130 		JBrowse link
G Chst14 carbohydrate sulfotransferase 14 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:118,756,978...118,759,066
Ensembl chr 2:118,756,977...118,759,066 		JBrowse link
G Col1a1 collagen, type I, alpha 1 IAGP
ISO		 DNA:transition mutation:splice junction:
ClinVar Annotator: match by term: Ehlers-Danlos syndrome
OMIM:225400		 ClinVar
MouseDO
RGD		 PMID:2238087 PMID:7691343 PMID:7695699 PMID:8079666 PMID:8218237 More... RGD:11571617 NCBI chr11:94,827,050...94,843,868
Ensembl chr11:94,827,050...94,843,868 		JBrowse link
G Col1a2 collagen, type I, alpha 2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome ClinVar
RGD		 PMID:1577745 PMID:1634225 PMID:1712342 PMID:1990839 PMID:2993307 More... RGD:1581198 NCBI chr 6:4,505,618...4,541,543
Ensembl chr 6:4,504,814...4,541,544 		JBrowse link
G Col3a1 collagen, type III, alpha 1 ISO
IAGP		 DNA:mutation
ClinVar Annotator: match by term: Ehlers-Danlos syndrome
CTD Direct Evidence: marker/mechanism
DNA:deletion:exon
DNA:deletion:promoter, exons, introns
DNA:mutations:multiple (human)		 ClinVar
CTD
RGD		 PMID:2049575 PMID:2235526 PMID:8514866 PMID:9036918 PMID:9399899 More... RGD:7257554, RGD:11041602, RGD:11041599, RGD:1300381 NCBI chr 1:45,350,698...45,388,866
Ensembl chr 1:45,350,698...45,388,866 		JBrowse link
G Col5a1 collagen, type V, alpha 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome ClinVar
RGD		 PMID:10471441 PMID:10602121 PMID:10777716 PMID:10946364 PMID:11992482 More... RGD:1581212, RGD:1581210, RGD:1581211 NCBI chr 2:27,776,393...27,929,522
Ensembl chr 2:27,776,437...27,929,526 		JBrowse link
G Col5a2 collagen, type V, alpha 2 ISO EDS type 1, OMIM:130000, EDS type 2, OMIM:130010, DNA:deletions
ClinVar Annotator: match by term: Ehlers-Danlos syndrome		 ClinVar
RGD		 PMID:2855059 PMID:9536098 PMID:11940702 PMID:17576681 PMID:25741868 More... RGD:734809 NCBI chr 1:45,413,491...45,542,442
Ensembl chr 1:45,413,481...45,542,442 		JBrowse link
G Cyp21a1 cytochrome P450, family 21, subfamily a, polypeptide 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome ClinVar PMID:25741868 NCBI chr17:35,020,322...35,023,400
Ensembl chr17:35,020,322...35,023,535 		JBrowse link
G Dcn decorin IAGP OMIM:225400 MouseDO NCBI chr10:97,315,362...97,354,025
Ensembl chr10:97,315,471...97,354,005 		JBrowse link
G Dse dermatan sulfate epimerase ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr10:34,027,385...34,084,267
Ensembl chr10:34,027,389...34,083,711 		JBrowse link
G Fbn2 fibrillin 2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome ClinVar PMID:16835936 PMID:17345643 PMID:17935258 PMID:18414213 PMID:19006240 More... NCBI chr18:58,141,689...58,343,200
Ensembl chr18:58,141,695...58,343,559 		JBrowse link
G Fkbp14 FK506 binding protein 14 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:31428121 PMID:33587123 NCBI chr 6:54,554,590...54,574,329
Ensembl chr 6:54,554,589...54,574,293 		JBrowse link
G Flna filamin, alpha ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome ClinVar PMID:25741868 NCBI chr  X:73,267,067...73,293,787
Ensembl chr  X:73,267,067...73,293,426 		JBrowse link
G Lox lysyl oxidase ISO RGD PMID:8638917 RGD:1581895 NCBI chr18:52,649,132...52,662,939
Ensembl chr18:52,649,139...52,662,939 		JBrowse link
G Plod1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 IAGP
ISO		 OMIM:225400
ClinVar Annotator: match by term: Ehlers-Danlos syndrome		 MouseDO
ClinVar		 PMID:9220536 PMID:9536098 PMID:9893157 PMID:10329027 PMID:10686424 More... NCBI chr 4:147,994,210...148,021,233
Ensembl chr 4:147,994,210...148,021,224 		JBrowse link
G Prdm5 PR domain containing 5 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome ClinVar PMID:21664999 PMID:25741868 PMID:26395458 PMID:28492532 PMID:33739556 More... NCBI chr 6:65,754,640...65,914,606
Ensembl chr 6:65,755,972...65,913,994 		JBrowse link
G Slc39a13 solute carrier family 39 (metal ion transporter), member 13 IMP
ISO		 ClinVar Annotator: match by term: Ehlers-Danlos syndrome
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:p.G74D (human)		 ClinVar
CTD
RGD		 PMID:18985159 PMID:25741868 PMID:28492532 PMID:18985159 PMID:18985159 RGD:11553861, RGD:11553861 NCBI chr 2:90,892,136...90,900,754
Ensembl chr 2:90,892,136...90,900,762 		JBrowse link
G Smad3 SMAD family member 3 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome ClinVar PMID:15350224 PMID:21217753 PMID:22167769 PMID:23554019 PMID:24033266 More... NCBI chr 9:63,554,048...63,665,276
Ensembl chr 9:63,554,049...63,665,276 		JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO protein:increased expression:plasma: RGD PMID:24399159 RGD:11073604 NCBI chr 7:25,386,406...25,404,503
Ensembl chr 7:25,386,427...25,404,502 		JBrowse link
G Tgfb2 transforming growth factor, beta 2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome ClinVar PMID:22772371 PMID:24465802 PMID:25741868 PMID:26017485 PMID:28139901 More... NCBI chr 1:186,354,984...186,441,504
Ensembl chr 1:186,354,989...186,438,186 		JBrowse link
G Tgfbr1 transforming growth factor, beta receptor I ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome ClinVar PMID:2511639 PMID:16928994 PMID:18781618 PMID:20332227 PMID:21358634 More... NCBI chr 4:47,353,258...47,414,926
Ensembl chr 4:47,353,222...47,414,931 		JBrowse link
G Tgfbr2 transforming growth factor, beta receptor II ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome ClinVar PMID:8246946 PMID:9395234 PMID:9590282 PMID:11212236 PMID:16791849 More... NCBI chr 9:115,916,763...116,004,431
Ensembl chr 9:115,913,361...116,004,428 		JBrowse link
G Thbs2 thrombospondin 2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome ClinVar PMID:25741868 PMID:38433265 NCBI chr17:14,885,762...14,914,524
Ensembl chr17:14,885,762...14,914,497 		JBrowse link
G Tnxb tenascin XB ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome ClinVar PMID:15733269 PMID:20853426 PMID:23555315 PMID:23620400 PMID:24033266 More... NCBI chr17:34,879,427...34,938,789
Ensembl chr17:34,879,431...34,938,789 		JBrowse link
G Zfp469 zinc finger protein 469 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome ClinVar PMID:23642083 PMID:23680354 PMID:24082139 PMID:24895405 PMID:25097247 More... NCBI chr 8:122,770,009...122,999,389
Ensembl chr 8:122,985,359...122,999,389 		JBrowse link
Ehlers-Danlos syndrome arthrochalasia type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alb albumin ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, arthrochalasia type ClinVar PMID:2404284 PMID:8347685 NCBI chr 5:90,608,729...90,624,461
Ensembl chr 5:90,608,756...90,624,461 		JBrowse link
G Col1a1 collagen, type I, alpha 1 ISO ClinVar Annotator: match by term: Arthrochalasis multiplex congenita | ClinVar Annotator: match by term: EDS VII, MUTANT PROCOLLAGEN TYPE | ClinVar Annotator: match by term: Ehlers-Danlos syndrome type 7A | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, arthrochalasia type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, arthrochalasia type, 1
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM
RGD		 PMID:1867198 PMID:2037280 PMID:2542316 PMID:2767050 PMID:3082886 More... RGD:734803 NCBI chr11:94,827,050...94,843,868
Ensembl chr11:94,827,050...94,843,868 		JBrowse link
G Col1a2 collagen, type I, alpha 2 ISO ClinVar Annotator: match by term: Arthrochalasis multiplex congenita | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, arthrochalasia type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 7A
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, arthrochalasia type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, arthrochalasia type, 1		 ClinVar PMID:7695699 PMID:8218237 PMID:9016532 PMID:17078022 PMID:19344236 More... NCBI chr 6:4,505,618...4,541,543
Ensembl chr 6:4,504,814...4,541,544 		JBrowse link
G Col5a1 collagen, type V, alpha 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome arthrochalasia type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome type 7A
ClinVar Annotator: match by term: Ehlers-Danlos syndrome type 7A | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, arthrochalasia type
ClinVar Annotator: match by term: Ehlers-Danlos syndrome type 7A | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, arthrochalasia type, 1		 ClinVar PMID:9536098 PMID:10471441 PMID:10602121 PMID:10946364 PMID:11992482 More... NCBI chr 2:27,776,393...27,929,522
Ensembl chr 2:27,776,437...27,929,526 		JBrowse link
G Col5a2 collagen, type V, alpha 2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome arthrochalasia type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome type 7A ClinVar PMID:9536098 PMID:17576681 PMID:25326637 PMID:25741868 PMID:28087566 More... NCBI chr 1:45,413,491...45,542,442
Ensembl chr 1:45,413,481...45,542,442 		JBrowse link
Ehlers-Danlos syndrome arthrochalasia type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col1a1 collagen, type I, alpha 1 ISO ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, TYPE VIIB, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Ehlers-danlos syndrome, arthrochalasia type, 2 ClinVar PMID:7942841 PMID:9295084 PMID:9443882 PMID:18311573 PMID:21667357 More... NCBI chr11:94,827,050...94,843,868
Ensembl chr11:94,827,050...94,843,868 		JBrowse link
G Col1a2 collagen, type I, alpha 2 ISO ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 2 | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, TYPE VIIB, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Ehlers-danlos syndrome, arthrochalasia type, 2 OMIM
ClinVar		 PMID:1556139 PMID:1577745 PMID:1712342 PMID:1978725 PMID:1990839 More... NCBI chr 6:4,505,618...4,541,543
Ensembl chr 6:4,504,814...4,541,544 		JBrowse link
Ehlers-Danlos syndrome cardiac valvular type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col1a1 collagen, type I, alpha 1 ISO ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR TYPE | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, arthrochalasis type
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, arthrochalasis type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, arthrochalasis type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, cardiac valvular type		 ClinVar PMID:1867198 PMID:2037280 PMID:2542316 PMID:2767050 PMID:3082886 More... NCBI chr11:94,827,050...94,843,868
Ensembl chr11:94,827,050...94,843,868 		JBrowse link
G Col1a2 collagen, type I, alpha 2 ISO ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR TYPE | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, arthrochalasis type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, cardiac valvular type
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:3049731 PMID:3383844 PMID:7695699 PMID:7860070 PMID:8094076 More... NCBI chr 6:4,505,618...4,541,543
Ensembl chr 6:4,504,814...4,541,544 		JBrowse link
Ehlers-Danlos syndrome classic type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abo ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 2:26,732,508...26,754,973
Ensembl chr 2:26,732,515...26,754,991 		JBrowse link
G Adamts13 ADAM metallopeptidase with thrombospondin type 1 motif 13 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 2:26,863,363...26,899,638
Ensembl chr 2:26,863,428...26,899,640 		JBrowse link
G Adamtsl2 ADAMTS-like 2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 2:26,969,348...26,998,993
Ensembl chr 2:26,969,391...26,998,993 		JBrowse link
G Aebp1 AE binding protein 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 ClinVar PMID:25741868 PMID:30759870 NCBI chr11:5,806,085...5,822,248
Ensembl chr11:5,811,947...5,822,088 		JBrowse link
G Ak8 adenylate kinase 8 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 2:28,588,287...28,703,177
Ensembl chr 2:28,590,176...28,703,177 		JBrowse link
G Barhl1 BarH like homeobox 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 2:28,797,692...28,807,996
Ensembl chr 2:28,797,691...28,806,680 		JBrowse link
G Brd3 bromodomain containing 3 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 2:27,335,588...27,397,669
Ensembl chr 2:27,335,591...27,397,674 		JBrowse link
G Cacfd1 calcium channel flower domain containing 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 2:26,899,867...26,911,102
Ensembl chr 2:26,899,938...26,911,101 		JBrowse link
G Camsap1 calmodulin regulated spectrin-associated protein 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 ClinVar PMID:28492532 PMID:29907982 NCBI chr 2:25,816,850...25,873,574
Ensembl chr 2:25,816,850...25,873,294 		JBrowse link
G Card9 caspase recruitment domain family, member 9 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 ClinVar PMID:28492532 PMID:29907982 NCBI chr 2:26,242,199...26,250,957
Ensembl chr 2:26,242,188...26,250,930 		JBrowse link
G Casd1 CAS1 domain containing 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 6:4,600,911...4,643,355
Ensembl chr 6:4,600,839...4,643,355 		JBrowse link
G Cel carboxyl ester lipase ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 2:28,445,831...28,453,415
Ensembl chr 2:28,445,807...28,453,415 		JBrowse link
G Cfap77 cilia and flagella associated protein 77 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 2:28,845,493...28,945,078
Ensembl chr 2:28,816,961...28,945,078 		JBrowse link
G Col1a1 collagen, type I, alpha 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1		 ClinVar PMID:10739762 PMID:16786509 PMID:17211858 PMID:23587214 PMID:25597651 More... NCBI chr11:94,827,050...94,843,868
Ensembl chr11:94,827,050...94,843,868 		JBrowse link
G Col1a2 collagen, type I, alpha 2 ISO ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1
ClinVar Annotator: match by term: EDS I | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, GRAVIS TYPE | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1		 ClinVar PMID:458828 PMID:1978725 PMID:1990009 PMID:2010058 PMID:2052622 More... NCBI chr 6:4,505,618...4,541,543
Ensembl chr 6:4,504,814...4,541,544 		JBrowse link
G Col3a1 collagen, type III, alpha 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 ClinVar PMID:20648054 PMID:22696272 PMID:23587214 PMID:24922459 PMID:28492532 NCBI chr 1:45,350,698...45,388,866
Ensembl chr 1:45,350,698...45,388,866 		JBrowse link
G Col5a1 collagen, type V, alpha 1 ISO
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: EDS I | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, GRAVIS TYPE | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, SEVERE CLASSIC TYPE | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1
ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1
OMIM:130000		 CTD
ClinVar
OMIM
MouseDO		 PMID:7695699 PMID:8218237 PMID:8575750 PMID:8752669 PMID:8923000 More... NCBI chr 2:27,776,393...27,929,522
Ensembl chr 2:27,776,437...27,929,526 		JBrowse link
G Col5a2 collagen, type V, alpha 2 IAGP
ISO		 OMIM:130000
ClinVar Annotator: match by term: EDS I | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, GRAVIS TYPE | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, SEVERE CLASSIC TYPE | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1
ClinVar Annotator: match by term: EDS I | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, GRAVIS TYPE | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, SEVERE CLASSIC TYPE | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1
ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, SEVERE CLASSIC TYPE | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1		 MouseDO
ClinVar		 PMID:2855059 PMID:7695699 PMID:8218237 PMID:9425231 PMID:9536098 More... NCBI chr 1:45,413,491...45,542,442
Ensembl chr 1:45,413,481...45,542,442 		JBrowse link
G Dbh dopamine beta hydroxylase ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 2:27,055,519...27,073,216
Ensembl chr 2:27,055,245...27,073,212 		JBrowse link
G Ddx31 DEAD/H box helicase 31 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 2:28,730,418...28,795,587
Ensembl chr 2:28,730,418...28,795,583 		JBrowse link
G Dnlz DNL-type zinc finger ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 ClinVar PMID:28492532 PMID:29907982 NCBI chr 2:26,238,130...26,242,122
Ensembl chr 2:26,238,133...26,242,122 		JBrowse link
G Entr1 endosome associated trafficking regulator 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 ClinVar PMID:28492532 PMID:29907982 NCBI chr 2:26,272,810...26,279,352
Ensembl chr 2:26,272,814...26,279,328 		JBrowse link
G Fam163b family with sequence similarity 163, member B ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 2:27,000,391...27,032,489
Ensembl chr 2:27,000,392...27,032,503 		JBrowse link
G Fcnb ficolin B ISO ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 ClinVar PMID:28492532 PMID:29907982 NCBI chr 2:27,966,491...27,974,921
Ensembl chr 2:27,966,390...27,974,897 		JBrowse link
G Flna filamin, alpha ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar NCBI chr  X:73,267,067...73,293,787
Ensembl chr  X:73,267,067...73,293,426 		JBrowse link
G Gbgt1 globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 2:28,369,368...28,396,048
Ensembl chr 2:28,386,903...28,395,427 		JBrowse link
G Gfi1b growth factor independent 1B ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 2:28,499,462...28,511,994
Ensembl chr 2:28,499,462...28,511,994 		JBrowse link
G Glt6d1 glycosyltransferase 6 domain containing 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 ClinVar PMID:28492532 PMID:29907982 NCBI chr 2:25,673,474...25,705,908
Ensembl chr 2:25,683,871...25,705,860 		JBrowse link
G Gm25541 predicted gene, 25541 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 2:27,429,817...27,429,942
Ensembl chr 2:27,429,817...27,429,942 		JBrowse link
G Gpsm1 G-protein signalling modulator 1 (AGS3-like, C. elegans) ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 ClinVar PMID:28492532 PMID:29907982 NCBI chr 2:26,204,623...26,238,249
Ensembl chr 2:26,205,527...26,238,249 		JBrowse link
G Gtf3c4 general transcription factor IIIC, polypeptide 4 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 2:28,712,311...28,730,628
Ensembl chr 2:28,712,311...28,730,372 		JBrowse link
G Gtf3c5 general transcription factor IIIC, polypeptide 5 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 2:28,456,257...28,473,291
Ensembl chr 2:28,456,323...28,473,763 		JBrowse link
G Inpp5e inositol polyphosphate-5-phosphatase E ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 ClinVar PMID:28492532 PMID:29907982 NCBI chr 2:26,286,261...26,299,313
Ensembl chr 2:26,286,261...26,299,215 		JBrowse link
G Kcnt1 potassium channel, subfamily T, member 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 ClinVar PMID:28492532 PMID:29907982 NCBI chr 2:25,753,807...25,808,285
Ensembl chr 2:25,753,746...25,808,285 		JBrowse link
G Lcn11 lipocalin 11 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 ClinVar PMID:28492532 PMID:29907982 NCBI chr 2:25,667,029...25,670,291
Ensembl chr 2:25,667,029...25,670,291 		JBrowse link
G Lcn3 lipocalin 3 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 ClinVar PMID:28492532 PMID:29907982 NCBI chr 2:25,655,545...25,658,110
Ensembl chr 2:25,655,581...25,658,111 		JBrowse link
G Lcn9 lipocalin 9 ISO ClinVar Annotator: match by term: EDS I | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 ClinVar PMID:28492532 PMID:29907982 NCBI chr 2:25,713,100...25,715,558
Ensembl chr 2:25,713,165...25,715,549 		JBrowse link
G Lhx3 LIM homeobox protein 3 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 ClinVar PMID:28492532 PMID:29907982 NCBI chr 2:26,090,224...26,098,261
Ensembl chr 2:26,090,224...26,098,301 		JBrowse link
G Lum lumican IAGP OMIM:130000 MouseDO NCBI chr10:97,401,363...97,408,565
Ensembl chr10:97,400,990...97,408,565 		JBrowse link
G Med12 mediator complex subunit 12 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr  X:100,317,697...100,342,540
Ensembl chr  X:100,317,636...100,341,071 		JBrowse link
G Med22 mediator complex subunit 22 ISO ClinVar Annotator: match by term: EDS I ClinVar PMID:28492532 NCBI chr 2:26,795,279...26,800,654
Ensembl chr 2:26,795,274...26,800,689 		JBrowse link
G Med27 mediator complex subunit 27 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 2:29,236,822...29,414,802
Ensembl chr 2:29,236,831...29,414,805 		JBrowse link
G Mrps2 mitochondrial ribosomal protein S2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 ClinVar PMID:28492532 PMID:29907982 NCBI chr 2:28,355,963...28,361,189
Ensembl chr 2:28,358,078...28,361,190 		JBrowse link
G Myh11 myosin, heavy polypeptide 11, smooth muscle ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:25741868 PMID:28492532 NCBI chr16:14,012,392...14,109,227
Ensembl chr16:14,012,399...14,109,236 		JBrowse link
G Mymk myomaker, myoblast fusion factor ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 2:26,951,648...26,962,173
Ensembl chr 2:26,951,648...26,962,191 		JBrowse link
G Nacc2 nucleus accumbens associated 2, BEN and BTB (POZ) domain containing ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 ClinVar PMID:28492532 PMID:29907982 NCBI chr 2:25,945,547...26,012,823
Ensembl chr 2:25,945,547...26,013,232 		JBrowse link
G Notch1 notch 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 ClinVar PMID:28492532 PMID:29907982 NCBI chr 2:26,347,914...26,393,834
Ensembl chr 2:26,347,915...26,406,675 		JBrowse link
G Ntng2 netrin G2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 2:29,084,738...29,138,111
Ensembl chr 2:29,084,553...29,143,017 		JBrowse link
G Obp2a odorant binding protein 2A ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 ClinVar PMID:28492532 PMID:29907982 NCBI chr 2:25,587,589...25,593,338
Ensembl chr 2:25,590,055...25,593,338 		JBrowse link
G Obp2b odorant binding protein 2B ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 2:25,604,120...25,630,136
Ensembl chr 2:25,627,021...25,630,109 		JBrowse link
G Olfm1 olfactomedin 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 ClinVar PMID:28492532 PMID:29907982 NCBI chr 2:28,083,105...28,120,748
Ensembl chr 2:28,083,004...28,120,748 		JBrowse link
G Pierce1 piercer of microtubule wall 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 ClinVar PMID:28492532 PMID:29907982 NCBI chr 2:28,352,013...28,356,336
Ensembl chr 2:28,352,013...28,356,344 		JBrowse link
G Pmpca peptidase (mitochondrial processing) alpha ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 ClinVar PMID:28492532 PMID:29907982 NCBI chr 2:26,275,554...26,287,134
Ensembl chr 2:26,279,351...26,287,134 		JBrowse link
G Pomt1 protein-O-mannosyltransferase 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 2:32,126,321...32,145,017
Ensembl chr 2:32,126,602...32,145,017 		JBrowse link
G Ppp1r26 protein phosphatase 1, regulatory subunit 26 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 ClinVar PMID:28492532 PMID:29907982 NCBI chr 2:28,336,613...28,345,520
Ensembl chr 2:28,336,812...28,345,520 		JBrowse link
G Qsox2 quiescin Q6 sulfhydryl oxidase 2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 ClinVar PMID:28492532 PMID:29907982 NCBI chr 2:26,099,136...26,127,411
Ensembl chr 2:26,098,649...26,127,537 		JBrowse link
G Ralgds ral guanine nucleotide dissociation stimulator ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 2:28,403,037...28,443,085
Ensembl chr 2:28,403,137...28,443,093 		JBrowse link
G Rapgef1 Rap guanine nucleotide exchange factor (GEF) 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 2:29,509,732...29,630,376
Ensembl chr 2:29,509,732...29,630,990 		JBrowse link
G Rexo4 REX4, 3'-5' exonuclease ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 2:26,843,575...26,854,398
Ensembl chr 2:26,843,575...26,854,398 		JBrowse link
G Rpl7a ribosomal protein L7A ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 2:26,800,697...26,803,330
Ensembl chr 2:26,800,776...26,803,330 		JBrowse link
G Rxra retinoid X receptor alpha ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 2:27,566,457...27,653,331
Ensembl chr 2:27,566,452...27,652,969 		JBrowse link
G Sardh sarcosine dehydrogenase ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 2:27,078,405...27,138,344
Ensembl chr 2:27,078,405...27,138,349 		JBrowse link
G Sec16a SEC16 homolog A, endoplasmic reticulum export factor ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 ClinVar PMID:28492532 PMID:29907982 NCBI chr 2:26,299,443...26,336,138
Ensembl chr 2:26,299,443...26,335,228 		JBrowse link
G Setx senataxin ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 2:29,013,600...29,072,483
Ensembl chr 2:29,014,193...29,072,483 		JBrowse link
G Sgce sarcoglycan, epsilon ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 6:4,674,350...4,747,180
Ensembl chr 6:4,674,350...4,747,207 		JBrowse link
G Slc2a10 solute carrier family 2 (facilitated glucose transporter), member 10 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 2:165,345,817...165,361,837
Ensembl chr 2:165,345,707...165,361,837 		JBrowse link
G Slc2a6 solute carrier family 2 (facilitated glucose transporter), member 6 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 2:26,911,375...26,918,011
Ensembl chr 2:26,911,375...26,918,010 		JBrowse link
G Slc40a1 solute carrier family 40 (iron-regulated transporter), member 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:20648054 PMID:23587214 PMID:28492532 NCBI chr 1:45,947,230...45,965,690
Ensembl chr 1:45,947,228...45,965,683 		JBrowse link
G Snapc4 small nuclear RNA activating complex, polypeptide 4 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 ClinVar PMID:28492532 PMID:29907982 NCBI chr 2:26,252,777...26,270,666
Ensembl chr 2:26,252,777...26,270,665 		JBrowse link
G Sohlh1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 ClinVar PMID:28492532 PMID:29907982 NCBI chr 2:25,733,007...25,737,347
Ensembl chr 2:25,733,007...25,737,260 		JBrowse link
G Spaca9 sperm acrosome associated 9 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 ClinVar PMID:28492532 NCBI chr 2:28,582,092...28,589,663
Ensembl chr 2:28,582,092...28,589,739 		JBrowse link
G Stkld1 serine/threonine kinase-like domain containing 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 2:26,823,533...26,843,508
Ensembl chr 2:26,824,059...26,843,508 		JBrowse link
G Surf1 surfeit gene 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 2:26,803,390...26,806,667
Ensembl chr 2:26,803,393...26,806,542 		JBrowse link
G Surf2 surfeit gene 2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 2:26,806,420...26,810,199
Ensembl chr 2:26,806,379...26,810,195 		JBrowse link
G Surf4 surfeit gene 4 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 2:26,810,052...26,823,801
Ensembl chr 2:26,810,052...26,823,940 		JBrowse link
G Surf6 surfeit gene 6 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 2:26,780,430...26,792,899
Ensembl chr 2:26,778,640...26,792,891 		JBrowse link
G Tgfbr1 transforming growth factor, beta receptor I ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:30675029 NCBI chr 4:47,353,258...47,414,926
Ensembl chr 4:47,353,222...47,414,931 		JBrowse link
G Tmem250 transmembrane protein 250 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 ClinVar PMID:28492532 PMID:29907982 NCBI chr 2:26,026,819...26,030,518
Ensembl chr 2:26,026,826...26,030,533 		JBrowse link
G Tsc1 TSC complex subunit 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 2:28,531,005...28,581,183
Ensembl chr 2:28,531,240...28,581,179 		JBrowse link
G Ttf1 transcription termination factor, RNA polymerase I ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 2:28,950,211...28,977,668
Ensembl chr 2:28,950,274...28,977,668 		JBrowse link
G Ubac1 ubiquitin associated domain containing 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 ClinVar PMID:28492532 PMID:29907982 NCBI chr 2:25,886,970...25,911,793
Ensembl chr 2:25,888,555...25,911,759 		JBrowse link
G Uck1 uridine-cytidine kinase 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 2:32,145,014...32,150,117
Ensembl chr 2:32,145,014...32,150,171 		JBrowse link
G Vav2 vav 2 oncogene ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 2:27,152,116...27,317,620
Ensembl chr 2:27,152,116...27,317,045 		JBrowse link
G Wdr5 WD repeat domain 5 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 2:27,405,159...27,426,547
Ensembl chr 2:27,405,169...27,426,547 		JBrowse link
G Wdr75 WD repeat domain 75 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:20648054 PMID:23587214 PMID:28492532 NCBI chr 1:45,834,313...45,862,798
Ensembl chr 1:45,834,326...45,862,779 		JBrowse link
Ehlers-Danlos syndrome classic type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col1a2 collagen, type I, alpha 2 ISO ClinVar Annotator: match by term: EDS II | ClinVar Annotator: match by term: EHLERS DANLOS SYNDROME, MITIS TYPE | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, TYPE II ClinVar PMID:458828 PMID:1978725 PMID:2010058 PMID:2824475 PMID:2985635 More... NCBI chr 6:4,505,618...4,541,543
Ensembl chr 6:4,504,814...4,541,544 		JBrowse link
G Col5a1 collagen, type V, alpha 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 2 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 2		 CTD
ClinVar		 PMID:8752669 PMID:9042913 PMID:15580559 PMID:22696272 PMID:25741868 More... NCBI chr 2:27,776,393...27,929,522
Ensembl chr 2:27,776,437...27,929,526 		JBrowse link
G Col5a2 collagen, type V, alpha 2 ISO ClinVar Annotator: match by term: COL5A2-related condition | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 2 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 2 OMIM
ClinVar		 PMID:2855059 PMID:9536098 PMID:11940702 PMID:16199547 PMID:17576681 More... NCBI chr 1:45,413,491...45,542,442
Ensembl chr 1:45,413,481...45,542,442 		JBrowse link
Ehlers-Danlos syndrome classic-like 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp21a1 cytochrome P450, family 21, subfamily a, polypeptide 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome due to tenascin-X deficiency ClinVar PMID:25741868 NCBI chr17:35,020,322...35,023,400
Ensembl chr17:35,020,322...35,023,535 		JBrowse link
G Tnxb tenascin XB ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Ehlers-Danlos syndrome due to tenascin-X deficiency		 CTD
ClinVar		 PMID:11642233 PMID:11925569 PMID:12865992 PMID:15733269 PMID:20853426 More... NCBI chr17:34,879,427...34,938,789
Ensembl chr17:34,879,431...34,938,789 		JBrowse link
Ehlers-Danlos syndrome classic-like 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aebp1 AE binding protein 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic-like, 2 OMIM
ClinVar		 PMID:16199547 PMID:25741868 PMID:27023906 PMID:28492532 PMID:29606302 More... NCBI chr11:5,806,085...5,822,248
Ensembl chr11:5,811,947...5,822,088 		JBrowse link
Ehlers-Danlos syndrome dermatosparaxis type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 4833439L19Rik RIKEN cDNA 4833439L19 gene ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr13:54,699,031...54,713,195
Ensembl chr13:54,699,031...54,713,248 		JBrowse link
G Adamts2 ADAM metallopeptidase with thrombospondin type 1 motif 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type
DNA:deletions: :		 OMIM
CTD
ClinVar
RGD		 PMID:1642226 PMID:7735500 PMID:8215497 PMID:8986271 PMID:9536098 More... RGD:1598738 NCBI chr11:50,492,912...50,698,400
Ensembl chr11:50,492,911...50,698,400 		JBrowse link
G Arl10 ADP-ribosylation factor-like 10 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr13:54,722,860...54,730,578
Ensembl chr13:54,722,828...54,728,941 		JBrowse link
G B4galt7 beta-1,4-galactosyltransferase 7 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr13:55,747,709...55,758,258
Ensembl chr13:55,747,709...55,758,256 		JBrowse link
G Canx calnexin ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr11:50,184,784...50,216,500
Ensembl chr11:50,184,788...50,216,500 		JBrowse link
G Cby3 chibby family member 3 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr11:50,248,588...50,250,529
Ensembl chr11:50,248,588...50,250,526 		JBrowse link
G Cdhr2 cadherin-related family member 2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr13:54,849,276...54,884,475
Ensembl chr13:54,849,274...54,884,475 		JBrowse link
G Clk4 CDC like kinase 4 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr11:51,153,941...51,172,597
Ensembl chr11:51,152,557...51,172,593 		JBrowse link
G Cltb clathrin light chain B ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr13:54,740,199...54,759,186
Ensembl chr13:54,740,214...54,759,157 		JBrowse link
G Col23a1 collagen, type XXIII, alpha 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr11:51,180,508...51,474,752
Ensembl chr11:51,180,747...51,474,745 		JBrowse link
G Cplx2 complexin 2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr13:54,455,447...54,531,736
Ensembl chr13:54,519,162...54,531,730
Ensembl chr13:54,519,162...54,531,730 		JBrowse link
G Dbn1 drebrin 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr13:55,621,241...55,635,874
Ensembl chr13:55,621,242...55,635,924 		JBrowse link
G Ddx41 DEAD box helicase 41 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr13:55,678,223...55,684,471
Ensembl chr13:55,678,223...55,684,471 		JBrowse link
G Dok3 docking protein 3 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr13:55,671,044...55,678,158
Ensembl chr13:55,671,044...55,677,109 		JBrowse link
G Eif4e1b eukaryotic translation initiation factor 4E family member 1B ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr13:54,931,807...54,936,272
Ensembl chr13:54,931,811...54,936,272 		JBrowse link
G F12 coagulation factor XII (Hageman factor) ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr13:55,565,771...55,574,617
Ensembl chr13:55,565,771...55,574,606 		JBrowse link
G Faf2 Fas associated factor family member 2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr13:54,769,597...54,811,876
Ensembl chr13:54,769,597...54,811,876 		JBrowse link
G Fam193b family with sequence similarity 193, member B ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr13:55,687,129...55,718,920
Ensembl chr13:55,687,129...55,718,933 		JBrowse link
G Fgfr4 fibroblast growth factor receptor 4 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr13:55,300,631...55,316,572
Ensembl chr13:55,300,453...55,316,572 		JBrowse link
G Gprin1 G protein-regulated inducer of neurite outgrowth 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr13:54,884,484...54,897,486
Ensembl chr13:54,884,484...54,897,687 		JBrowse link
G Grk6 G protein-coupled receptor kinase 6 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr13:55,592,865...55,608,740
Ensembl chr13:55,592,885...55,608,740 		JBrowse link
G Grm6 glutamate receptor, metabotropic 6 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr11:50,741,205...50,757,035
Ensembl chr11:50,741,512...50,757,035 		JBrowse link
G Higd2a HIG1 domain family, member 2A ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr13:54,738,044...54,738,960
Ensembl chr13:54,738,020...54,738,971 		JBrowse link
G Hk3 hexokinase 3 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr13:55,153,798...55,169,233
Ensembl chr13:55,153,798...55,169,198 		JBrowse link
G Hnrnpab heterogeneous nuclear ribonucleoprotein A/B ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr11:51,490,927...51,497,708
Ensembl chr11:51,490,927...51,497,674 		JBrowse link
G Hnrnph1 heterogeneous nuclear ribonucleoprotein H1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr11:50,266,084...50,277,355
Ensembl chr11:50,267,817...50,277,355 		JBrowse link
G Lman2 lectin, mannose-binding 2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr13:55,491,646...55,510,596
Ensembl chr13:55,491,646...55,510,596 		JBrowse link
G Ltc4s leukotriene C4 synthase ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr11:50,127,288...50,129,378
Ensembl chr11:50,127,288...50,129,443 		JBrowse link
G Maml1 mastermind like transcriptional coactivator 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr11:50,146,461...50,183,163
Ensembl chr11:50,146,461...50,183,138 		JBrowse link
G Mgat4b mannoside acetylglucosaminyltransferase 4, isoenzyme B ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr11:50,116,162...50,125,930
Ensembl chr11:50,101,717...50,125,930 		JBrowse link
G Mxd3 Max dimerization protein 3 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr13:55,472,983...55,477,937
Ensembl chr13:55,472,981...55,477,636 		JBrowse link
G N4bp3 NEDD4 binding protein 3 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr11:51,533,908...51,541,664
Ensembl chr11:51,533,890...51,541,669 		JBrowse link
G Nhp2 NHP2 ribonucleoprotein ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr11:51,510,600...51,514,545
Ensembl chr11:51,510,562...51,514,541 		JBrowse link
G Nop16 NOP16 nucleolar protein ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr13:54,732,004...54,737,921
Ensembl chr13:54,731,998...54,737,903 		JBrowse link
G Nsd1 nuclear receptor-binding SET-domain protein 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr13:55,357,595...55,466,138
Ensembl chr13:55,357,595...55,466,138 		JBrowse link
G Pdlim7 PDZ and LIM domain 7 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr13:55,645,300...55,661,281
Ensembl chr13:55,643,608...55,661,489 		JBrowse link
G Pfn3 profilin 3 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr13:55,562,501...55,563,045
Ensembl chr13:55,562,501...55,563,045 		JBrowse link
G Phykpl 5-phosphohydroxy-L-lysine phospholyase ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr11:51,474,751...51,494,091
Ensembl chr11:51,475,584...51,495,316 		JBrowse link
G Prelid1 PRELI domain containing 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr13:55,469,868...55,473,085
Ensembl chr13:55,468,313...55,473,085 		JBrowse link
G Prop1 paired like homeodomain factor 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr11:50,841,633...50,844,584
Ensembl chr11:50,841,633...50,844,592 		JBrowse link
G Prr7 proline rich 7 (synaptic) ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr13:55,612,080...55,620,968
Ensembl chr13:55,612,080...55,620,967 		JBrowse link
G Rab24 RAB24, member RAS oncogene family ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr13:55,467,036...55,469,807
Ensembl chr13:55,467,556...55,469,759 		JBrowse link
G Rgs14 regulator of G-protein signaling 14 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr13:55,517,269...55,532,504
Ensembl chr13:55,517,545...55,532,500 		JBrowse link
G Rmnd5b required for meiotic nuclear division 5 homolog B ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr11:51,514,500...51,526,723
Ensembl chr11:51,514,498...51,526,723 		JBrowse link
G Rnf44 ring finger protein 44 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr13:54,827,212...54,841,889
Ensembl chr13:54,827,212...54,841,720 		JBrowse link
G Rufy1 RUN and FYVE domain containing 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr11:50,280,113...50,322,101
Ensembl chr11:50,280,113...50,321,952 		JBrowse link
G Simc1 SUMO-interacting motifs containing 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr13:54,651,539...54,699,103
Ensembl chr13:54,651,592...54,699,103 		JBrowse link
G Slc34a1 solute carrier family 34 (sodium phosphate), member 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr13:55,547,435...55,562,508
Ensembl chr13:55,546,000...55,563,405 		JBrowse link
G Sncb synuclein, beta ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr13:54,906,673...54,914,435
Ensembl chr13:54,906,673...54,914,408 		JBrowse link
G Sqstm1 sequestosome 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr11:50,090,979...50,105,303
Ensembl chr11:50,090,193...50,101,654 		JBrowse link
G Thoc3 THO complex 3 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr13:54,606,650...54,616,653
Ensembl chr13:54,606,650...54,616,662 		JBrowse link
G Tmed9 transmembrane p24 trafficking protein 9 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr13:55,740,948...55,745,510
Ensembl chr13:55,721,545...55,745,510 		JBrowse link
G Tspan17 tetraspanin 17 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr13:54,936,915...54,944,588
Ensembl chr13:54,937,190...54,944,589 		JBrowse link
G Uimc1 ubiquitin interaction motif containing 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr13:55,175,693...55,248,176
Ensembl chr13:55,175,693...55,248,113 		JBrowse link
G Unc5a unc-5 netrin receptor A ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr13:55,090,545...55,153,831
Ensembl chr13:55,097,224...55,153,831 		JBrowse link
G Zfp2 zinc finger protein 2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr11:50,788,092...50,807,043
Ensembl chr11:50,789,539...50,806,992 		JBrowse link
G Zfp346 zinc finger protein 346 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr13:55,253,079...55,282,884
Ensembl chr13:55,253,124...55,282,638 		JBrowse link
G Zfp354a zinc finger protein 354A ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr11:50,950,052...50,963,626
Ensembl chr11:50,950,084...50,963,626 		JBrowse link
G Zfp354b zinc finger protein 354B ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr11:50,812,613...50,822,486
Ensembl chr11:50,812,650...50,822,460 		JBrowse link
G Zfp354c zinc finger protein 354C ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr11:50,701,912...50,718,558
Ensembl chr11:50,701,913...50,718,551 		JBrowse link
G Zfp454 zinc finger protein 454 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr11:50,763,545...50,778,463
Ensembl chr11:50,763,547...50,778,478 		JBrowse link
G Zfp879 zinc finger protein 879 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr11:50,719,821...50,732,414
Ensembl chr11:50,722,858...50,732,379 		JBrowse link
Ehlers-Danlos syndrome hypermobility type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col3a1 collagen, type III, alpha 1 ISO DNA:missense mutation: :p.G637S (2512G>A) (human)
ClinVar Annotator: match by term: Ehlers-Danlos Syndrome, Hypermobility Type		 ClinVar
RGD		 PMID:25741868 PMID:25758994 PMID:26854089 PMID:28087566 PMID:28492532 More... RGD:11041770 NCBI chr 1:45,350,698...45,388,866
Ensembl chr 1:45,350,698...45,388,866 		JBrowse link
G Notch1 notch 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 3 ClinVar PMID:28492532 NCBI chr 2:26,347,914...26,393,834
Ensembl chr 2:26,347,915...26,406,675 		JBrowse link
G Tnxb tenascin XB ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 3 ClinVar PMID:25326637 PMID:25741868 NCBI chr17:34,879,427...34,938,789
Ensembl chr17:34,879,431...34,938,789 		JBrowse link
Ehlers-Danlos syndrome kyphoscoliotic type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 2510039O18Rik RIKEN cDNA 2510039O18 gene ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type 1 ClinVar PMID:28492532 NCBI chr 4:148,023,849...148,031,773
Ensembl chr 4:148,025,352...148,031,771 		JBrowse link
G Clcn6 chloride channel, voltage-sensitive 6 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type 1 ClinVar PMID:28492532 NCBI chr 4:148,088,716...148,123,270
Ensembl chr 4:148,088,716...148,123,278 		JBrowse link
G Mfn2 mitofusin 2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, hydroxylysine-deficient | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type 1 ClinVar PMID:28492532 NCBI chr 4:147,958,043...147,989,527
Ensembl chr 4:147,958,056...147,989,161 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type 1 ClinVar PMID:28492532 NCBI chr 4:148,123,534...148,144,019
Ensembl chr 4:148,123,534...148,144,008 		JBrowse link
G Nppa natriuretic peptide type A ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type 1 ClinVar PMID:28492532 NCBI chr 4:148,085,179...148,086,531
Ensembl chr 4:148,085,179...148,086,536 		JBrowse link
G Nppb natriuretic peptide type B ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type 1 ClinVar PMID:28492532 NCBI chr 4:148,070,264...148,071,662
Ensembl chr 4:148,070,245...148,071,662 		JBrowse link
G Plod1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, hydroxylysine-deficient | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type 1 | ClinVar Annotator: match by term: Nevo syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:222849 PMID:416188 PMID:1345174 PMID:3110540 PMID:3931636 More... NCBI chr 4:147,994,210...148,021,233
Ensembl chr 4:147,994,210...148,021,224 		JBrowse link
Ehlers-Danlos syndrome kyphoscoliotic type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aqp1 aquaporin 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss ClinVar PMID:28492532 NCBI chr 6:55,313,284...55,325,540
Ensembl chr 6:55,313,417...55,325,540 		JBrowse link
G Crhr2 corticotropin releasing hormone receptor 2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss ClinVar PMID:28492532 NCBI chr 6:55,067,033...55,110,001
Ensembl chr 6:55,067,034...55,110,001 		JBrowse link
G Fkbp14 FK506 binding protein 14 ISO ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 2 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22265013 PMID:24677762 More... NCBI chr 6:54,554,590...54,574,329
Ensembl chr 6:54,554,589...54,574,293 		JBrowse link
G Gars1 glycyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss ClinVar PMID:28492532 NCBI chr 6:55,014,986...55,056,489
Ensembl chr 6:55,014,992...55,056,485 		JBrowse link
G Ggct gamma-glutamyl cyclotransferase ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss ClinVar PMID:28492532 NCBI chr 6:54,962,080...54,969,947
Ensembl chr 6:54,959,565...54,969,935 		JBrowse link
G Ghrhr growth hormone releasing hormone receptor ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss ClinVar PMID:28492532 NCBI chr 6:55,353,204...55,365,515
Ensembl chr 6:55,353,280...55,365,515 		JBrowse link
G Inmt indolethylamine N-methyltransferase ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss ClinVar PMID:28492532 NCBI chr 6:55,147,612...55,151,975
Ensembl chr 6:55,147,611...55,152,028 		JBrowse link
G Mindy4 MINDY lysine 48 deubiquitinase 4 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss ClinVar PMID:28492532 NCBI chr 6:55,180,337...55,297,208
Ensembl chr 6:55,180,368...55,297,207 		JBrowse link
G Mturn maturin, neural progenitor differentiation regulator homolog (Xenopus) ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss ClinVar PMID:28492532 NCBI chr 6:54,658,609...54,680,840
Ensembl chr 6:54,658,609...54,680,836 		JBrowse link
G Nod1 nucleotide-binding oligomerization domain containing 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss ClinVar PMID:28492532 NCBI chr 6:54,900,927...54,949,655
Ensembl chr 6:54,900,934...54,949,597 		JBrowse link
G Plekha8 pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss ClinVar PMID:28492532 NCBI chr 6:54,571,883...54,622,808
Ensembl chr 6:54,572,096...54,622,824 		JBrowse link
G Znrf2 zinc and ring finger 2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss ClinVar PMID:28492532 NCBI chr 6:54,793,901...54,867,209
Ensembl chr 6:54,793,901...54,870,485 		JBrowse link
Ehlers-Danlos syndrome musculocontractural type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chst14 carbohydrate sulfotransferase 14 ISO ClinVar Annotator: match by term: ARTHROGRYPOSIS, DISTAL, WITH PECULIAR FACIES AND HYDRONEPHROSIS | ClinVar Annotator: match by term: Adducted Thumb-Clubfoot Syndrome | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, musculocontractural type 1
DNA:frameshift mutations, missense mutations:CDS:multiple (human)
DNA:missense mutations, deletion:CDS:multiple (human)
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD
RGD		 PMID:1184396 PMID:2202212 PMID:9084938 PMID:10766984 PMID:11370633 More... RGD:11061906, RGD:155663488 NCBI chr 2:118,756,978...118,759,066
Ensembl chr 2:118,756,977...118,759,066 		JBrowse link
Ehlers-Danlos syndrome musculocontractural type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dse dermatan sulfate epimerase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, musculocontractural type 2		 OMIM
CTD
ClinVar		 PMID:23704329 PMID:25703627 PMID:25741868 PMID:28492532 NCBI chr10:34,027,385...34,084,267
Ensembl chr10:34,027,389...34,083,711 		JBrowse link
Ehlers-Danlos syndrome periodontal type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C1rb complement component 1, r subcomponent B ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, periodontal type 1		 OMIM
CTD
ClinVar		 PMID:890102 PMID:2260589 PMID:12776252 PMID:22739343 PMID:25741868 More... NCBI chr 6:124,547,389...124,558,003
Ensembl chr 6:124,547,253...124,558,130 		JBrowse link
G C1rl complement component 1, r subcomponent-like ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, periodontal type 1 ClinVar PMID:25741868 PMID:27745832 NCBI chr 6:124,470,072...124,487,602
Ensembl chr 6:124,470,072...124,487,602 		JBrowse link
G C1s1 complement component 1, s subcomponent 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, periodontal type 1 ClinVar PMID:27745832 NCBI chr 6:124,507,303...124,519,340
Ensembl chr 6:124,507,304...124,519,318 		JBrowse link
Ehlers-Danlos syndrome periodontal type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C1rb complement component 1, r subcomponent B ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, periodontal type 2 ClinVar PMID:890102 PMID:2260589 PMID:12776252 PMID:22739343 PMID:25741868 More... NCBI chr 6:124,547,389...124,558,003
Ensembl chr 6:124,547,253...124,558,130 		JBrowse link
G C1rl complement component 1, r subcomponent-like ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, periodontal type 2 ClinVar PMID:25741868 PMID:27745832 NCBI chr 6:124,470,072...124,487,602
Ensembl chr 6:124,470,072...124,487,602 		JBrowse link
G C1s1 complement component 1, s subcomponent 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, periodontal type 2		 OMIM
CTD
ClinVar		 PMID:25741868 PMID:27745832 PMID:28492532 NCBI chr 6:124,507,303...124,519,340
Ensembl chr 6:124,507,304...124,519,318 		JBrowse link
Ehlers-Danlos syndrome spondylodysplastic type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B3galt6 UDP-Gal:betaGal beta 1,3-galactosyltransferase, polypeptide 6 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:156,073,923...156,077,135
Ensembl chr 4:156,073,923...156,077,106 		JBrowse link
G B4galt7 beta-1,4-galactosyltransferase 7 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 1
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1221956 PMID:1640425 PMID:9536098 PMID:15211654 PMID:17576681 More... NCBI chr13:55,747,709...55,758,258
Ensembl chr13:55,747,709...55,758,256 		JBrowse link
Ehlers-Danlos syndrome spondylodysplastic type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 9430015G10Rik RIKEN cDNA 9430015G10 gene ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:156,194,455...156,211,720
Ensembl chr 4:156,194,439...156,211,722 		JBrowse link
G Acap3 ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:155,976,332...155,991,708
Ensembl chr 4:155,976,279...155,991,708 		JBrowse link
G Actrt2 actin-related protein T2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:154,750,885...154,752,324
Ensembl chr 4:154,750,890...154,752,324 		JBrowse link
G Agrn agrin ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:156,249,747...156,281,997
Ensembl chr 4:156,249,747...156,281,945 		JBrowse link
G Ankrd65 ankyrin repeat domain 65 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:155,875,432...155,884,132
Ensembl chr 4:155,874,896...155,877,659 		JBrowse link
G Arhgef16 Rho guanine nucleotide exchange factor 16 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:154,362,926...154,384,535
Ensembl chr 4:154,362,943...154,386,133 		JBrowse link
G Atad3a ATPase family, AAA domain containing 3A ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:155,825,097...155,845,579
Ensembl chr 4:155,825,098...155,845,550 		JBrowse link
G Aurkaip1 aurora kinase A interacting protein 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:155,915,709...155,917,555
Ensembl chr 4:155,915,729...155,917,587 		JBrowse link
G B3galt6 UDP-Gal:betaGal beta 1,3-galactosyltransferase, polypeptide 6 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 OMIM
ClinVar		 PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:23664117 More... NCBI chr 4:156,073,923...156,077,135
Ensembl chr 4:156,073,923...156,077,106 		JBrowse link
G B4galt7 beta-1,4-galactosyltransferase 7 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:1221956 PMID:1640425 PMID:3631078 PMID:9536098 PMID:10473568 More... NCBI chr13:55,747,709...55,758,258
Ensembl chr13:55,747,709...55,758,256 		JBrowse link
G C1qtnf12 C1q and tumor necrosis factor related 12 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:156,046,769...156,051,086
Ensembl chr 4:156,046,775...156,051,086 		JBrowse link
G Ccdc27 coiled-coil domain containing 27 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:154,111,101...154,127,202
Ensembl chr 4:154,111,096...154,127,134 		JBrowse link
G Ccnl2 cyclin L2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:155,894,468...155,909,005
Ensembl chr 4:155,896,946...155,909,000 		JBrowse link
G Cdk11b cyclin dependent kinase 11B ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:155,709,303...155,734,392
Ensembl chr 4:155,709,311...155,734,395 		JBrowse link
G Cep104 centrosomal protein 104 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:154,059,649...154,093,189
Ensembl chr 4:154,059,651...154,093,189 		JBrowse link
G Cfap74 cilia and flagella associated protein 74 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:155,493,647...155,551,280
Ensembl chr 4:155,493,647...155,551,280 		JBrowse link
G Clk4 CDC like kinase 4 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr11:51,153,941...51,172,597
Ensembl chr11:51,152,557...51,172,593 		JBrowse link
G Col23a1 collagen, type XXIII, alpha 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr11:51,180,508...51,474,752
Ensembl chr11:51,180,747...51,474,745 		JBrowse link
G Cptp ceramide-1-phosphate transfer protein ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:155,949,180...155,953,897
Ensembl chr 4:155,949,180...155,953,897 		JBrowse link
G Dbn1 drebrin 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr13:55,621,241...55,635,874
Ensembl chr13:55,621,242...55,635,924 		JBrowse link
G Ddx41 DEAD box helicase 41 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr13:55,678,223...55,684,471
Ensembl chr13:55,678,223...55,684,471 		JBrowse link
G Dok3 docking protein 3 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr13:55,671,044...55,678,158
Ensembl chr13:55,671,044...55,677,109 		JBrowse link
G Dvl1 dishevelled segment polarity protein 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:155,931,829...155,943,760
Ensembl chr 4:155,931,859...155,943,760 		JBrowse link
G Eif4e1b eukaryotic translation initiation factor 4E family member 1B ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr13:54,931,807...54,936,272
Ensembl chr13:54,931,811...54,936,272 		JBrowse link
G F12 coagulation factor XII (Hageman factor) ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr13:55,565,771...55,574,617
Ensembl chr13:55,565,771...55,574,606 		JBrowse link
G Faap20 Fanconi anemia core complex associated protein 20 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:155,333,168...155,341,144
Ensembl chr 4:155,334,259...155,341,144 		JBrowse link
G Fam193b family with sequence similarity 193, member B ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr13:55,687,129...55,718,920
Ensembl chr13:55,687,129...55,718,933 		JBrowse link
G Fgfr4 fibroblast growth factor receptor 4 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr13:55,300,631...55,316,572
Ensembl chr13:55,300,453...55,316,572 		JBrowse link
G Fndc10 fibronectin type III domain containing 10 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:155,778,775...155,780,942
Ensembl chr 4:155,778,799...155,780,938 		JBrowse link
G Gabrd gamma-aminobutyric acid (GABA) A receptor, subunit delta ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:155,469,437...155,482,528
Ensembl chr 4:155,469,437...155,482,569 		JBrowse link
G Gnb1 guanine nucleotide binding protein (G protein), beta 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:155,575,514...155,643,726
Ensembl chr 4:155,575,818...155,643,726 		JBrowse link
G Grk6 G protein-coupled receptor kinase 6 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr13:55,592,865...55,608,740
Ensembl chr13:55,592,885...55,608,740 		JBrowse link
G Grm6 glutamate receptor, metabotropic 6 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr11:50,741,205...50,757,035
Ensembl chr11:50,741,512...50,757,035 		JBrowse link
G Hes5 hes family bHLH transcription factor 5 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:155,042,358...155,046,829
Ensembl chr 4:155,045,380...155,046,828 		JBrowse link
G Hk3 hexokinase 3 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr13:55,153,798...55,169,233
Ensembl chr13:55,153,798...55,169,198 		JBrowse link
G Hnrnpab heterogeneous nuclear ribonucleoprotein A/B ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr11:51,490,927...51,497,708
Ensembl chr11:51,490,927...51,497,674 		JBrowse link
G Ints11 integrator complex subunit 11 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:155,954,006...155,973,561
Ensembl chr 4:155,954,003...155,973,560 		JBrowse link
G Isg15 ISG15 ubiquitin-like modifier ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:156,283,881...156,285,275
Ensembl chr 4:156,283,912...156,285,253 		JBrowse link
G Klhl17 kelch-like 17 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:156,313,501...156,319,314
Ensembl chr 4:156,313,792...156,319,314 		JBrowse link
G Lman2 lectin, mannose-binding 2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr13:55,491,646...55,510,596
Ensembl chr13:55,491,646...55,510,596 		JBrowse link
G Lrrc47 leucine rich repeat containing 47 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:154,096,260...154,105,969
Ensembl chr 4:154,096,188...154,105,970 		JBrowse link
G Megf6 multiple EGF-like-domains 6 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:154,255,156...154,360,178
Ensembl chr 4:154,255,187...154,360,170 		JBrowse link
G Mib2 mindbomb E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:155,738,925...155,753,711
Ensembl chr 4:155,739,134...155,753,655 		JBrowse link
G Mir200a microRNA 200a ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:156,139,353...156,139,442
Ensembl chr 4:156,139,353...156,139,442 		JBrowse link
G Mir200b microRNA 200b ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:156,140,138...156,140,207
Ensembl chr 4:156,140,138...156,140,207 		JBrowse link
G Mir429 microRNA 429 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:156,138,362...156,138,444
Ensembl chr 4:156,138,362...156,138,444 		JBrowse link
G Mmel1 membrane metallo-endopeptidase-like 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:154,954,042...154,979,987
Ensembl chr 4:154,954,042...154,979,985 		JBrowse link
G Mmp23 matrix metallopeptidase 23 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:155,735,111...155,738,982
Ensembl chr 4:155,735,112...155,737,841 		JBrowse link
G Morn1 MORN repeat containing 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:155,167,771...155,229,964
Ensembl chr 4:155,171,034...155,229,962 		JBrowse link
G Mrpl20 mitochondrial ribosomal protein L20 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:155,887,335...155,893,288
Ensembl chr 4:155,887,335...155,894,432 		JBrowse link
G Mxd3 Max dimerization protein 3 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr13:55,472,983...55,477,937
Ensembl chr13:55,472,981...55,477,636 		JBrowse link
G Mxra8 matrix-remodelling associated 8 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:155,924,137...155,928,559
Ensembl chr 4:155,924,137...155,928,545 		JBrowse link
G N4bp3 NEDD4 binding protein 3 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr11:51,533,908...51,541,664
Ensembl chr11:51,533,890...51,541,669 		JBrowse link
G Nadk NAD kinase ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:155,646,838...155,675,458
Ensembl chr 4:155,646,835...155,675,458 		JBrowse link
G Nhp2 NHP2 ribonucleoprotein ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr11:51,510,600...51,514,545
Ensembl chr11:51,510,562...51,514,541 		JBrowse link
G Noc2l NOC2 like nucleolar associated transcriptional repressor ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:156,319,112...156,332,078
Ensembl chr 4:156,320,376...156,332,073 		JBrowse link
G Nsd1 nuclear receptor-binding SET-domain protein 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr13:55,357,595...55,466,138
Ensembl chr13:55,357,595...55,466,138 		JBrowse link
G Pank4 pantothenate kinase 4 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:155,048,580...155,065,395
Ensembl chr 4:155,048,580...155,065,395 		JBrowse link
G Pdlim7 PDZ and LIM domain 7 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr13:55,645,300...55,661,281
Ensembl chr13:55,643,608...55,661,489 		JBrowse link
G Pex10 peroxisomal biogenesis factor 10 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2		 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:155,151,487...155,156,863
Ensembl chr 4:155,151,473...155,156,890 		JBrowse link
G Pfn3 profilin 3 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr13:55,562,501...55,563,045
Ensembl chr13:55,562,501...55,563,045 		JBrowse link
G Phykpl 5-phosphohydroxy-L-lysine phospholyase ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr11:51,474,751...51,494,091
Ensembl chr11:51,475,584...51,495,316 		JBrowse link
G Plch2 phospholipase C, eta 2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:155,067,572...155,148,548
Ensembl chr 4:155,067,572...155,141,241 		JBrowse link
G Plekhn1 pleckstrin homology domain containing, family N member 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:156,305,913...156,312,999
Ensembl chr 4:156,305,913...156,314,174 		JBrowse link
G Prdm16 PR domain containing 16 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:154,400,579...154,721,851
Ensembl chr 4:154,400,582...154,721,330 		JBrowse link
G Prelid1 PRELI domain containing 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr13:55,469,868...55,473,085
Ensembl chr13:55,468,313...55,473,085 		JBrowse link
G Prkcz protein kinase C, zeta ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:155,344,579...155,445,856
Ensembl chr 4:155,344,586...155,445,818 		JBrowse link
G Prop1 paired like homeodomain factor 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr11:50,841,633...50,844,584
Ensembl chr11:50,841,633...50,844,592 		JBrowse link
G Prr7 proline rich 7 (synaptic) ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr13:55,612,080...55,620,968
Ensembl chr13:55,612,080...55,620,967 		JBrowse link
G Prxl2b peroxiredoxin like 2B ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:154,980,884...154,983,522
Ensembl chr 4:154,979,961...154,983,592 		JBrowse link
G Pusl1 pseudouridylate synthase-like 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:155,973,314...155,976,231
Ensembl chr 4:155,972,336...155,976,238 		JBrowse link
G Rab24 RAB24, member RAS oncogene family ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr13:55,467,036...55,469,807
Ensembl chr13:55,467,556...55,469,759 		JBrowse link
G Rer1 retention in endoplasmic reticulum sorting receptor 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:155,158,566...155,170,840
Ensembl chr 4:155,158,567...155,170,839 		JBrowse link
G Rgs14 regulator of G-protein signaling 14 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr13:55,517,269...55,532,504
Ensembl chr13:55,517,545...55,532,500 		JBrowse link
G Rmnd5b required for meiotic nuclear division 5 homolog B ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr11:51,514,500...51,526,723
Ensembl chr11:51,514,498...51,526,723 		JBrowse link
G Rnf223 ring finger 223 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:156,214,972...156,217,874
Ensembl chr 4:156,214,970...156,217,877 		JBrowse link
G Samd11 sterile alpha motif domain containing 11 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:156,331,423...156,342,409
Ensembl chr 4:156,331,423...156,340,717 		JBrowse link
G Sdf4 stromal cell derived factor 4 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:156,077,300...156,098,067
Ensembl chr 4:156,077,329...156,098,067 		JBrowse link
G Ski ski sarcoma viral oncogene homolog (avian) ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:155,238,532...155,307,536
Ensembl chr 4:155,238,532...155,307,049 		JBrowse link
G Slc34a1 solute carrier family 34 (sodium phosphate), member 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr13:55,547,435...55,562,508
Ensembl chr13:55,546,000...55,563,405 		JBrowse link
G Slc35e2 solute carrier family 35, member E2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:155,685,873...155,707,797
Ensembl chr 4:155,685,873...155,707,797 		JBrowse link
G Smim1 small integral membrane protein 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:154,104,927...154,110,550
Ensembl chr 4:154,104,927...154,110,687 		JBrowse link
G Sncb synuclein, beta ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr13:54,906,673...54,914,435
Ensembl chr13:54,906,673...54,914,408 		JBrowse link
G Ssu72 Ssu72 RNA polymerase II CTD phosphatase homolog (yeast) ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:155,789,272...155,818,336
Ensembl chr 4:155,789,257...155,818,336 		JBrowse link
G Tas1r3 taste receptor, type 1, member 3 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:155,943,725...155,947,810
Ensembl chr 4:155,943,725...155,947,819 		JBrowse link
G Tmed9 transmembrane p24 trafficking protein 9 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr13:55,740,948...55,745,510
Ensembl chr13:55,721,545...55,745,510 		JBrowse link
G Tmem240 transmembrane protein 240 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:155,818,336...155,825,025
Ensembl chr 4:155,819,261...155,825,021 		JBrowse link
G Tmem52 transmembrane protein 52 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:155,553,571...155,555,315
Ensembl chr 4:155,553,571...155,555,315 		JBrowse link
G Tmem88b transmembrane protein 88B ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:155,866,048...155,870,331
Ensembl chr 4:155,866,048...155,870,331 		JBrowse link
G Tnfrsf14 tumor necrosis factor receptor superfamily, member 14 (herpesvirus entry mediator) ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:155,002,944...155,013,077
Ensembl chr 4:155,006,390...155,013,020 		JBrowse link
G Tnfrsf18 tumor necrosis factor receptor superfamily, member 18 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:156,110,779...156,113,351
Ensembl chr 4:156,110,621...156,113,352 		JBrowse link
G Tnfrsf4 tumor necrosis factor receptor superfamily, member 4 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:156,098,049...156,101,070
Ensembl chr 4:156,098,300...156,101,069 		JBrowse link
G Tprg1l transformation related protein 63 regulated 1 like ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:154,241,942...154,246,763
Ensembl chr 4:154,241,942...154,245,123 		JBrowse link
G Trp73 transformation related protein 73 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:154,140,706...154,224,332
Ensembl chr 4:154,140,706...154,224,665 		JBrowse link
G Tspan17 tetraspanin 17 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr13:54,936,915...54,944,588
Ensembl chr13:54,937,190...54,944,589 		JBrowse link
G Ttc34 tetratricopeptide repeat domain 34 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:154,921,871...154,951,582
Ensembl chr 4:154,921,916...154,951,584 		JBrowse link
G Ttll10 tubulin tyrosine ligase-like family, member 10 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:156,119,292...156,135,274
Ensembl chr 4:156,119,297...156,143,871 		JBrowse link
G Ube2j2 ubiquitin-conjugating enzyme E2J 2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:156,028,270...156,044,061
Ensembl chr 4:156,028,288...156,044,061 		JBrowse link
G Uimc1 ubiquitin interaction motif containing 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr13:55,175,693...55,248,176
Ensembl chr13:55,175,693...55,248,113 		JBrowse link
G Unc5a unc-5 netrin receptor A ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr13:55,090,545...55,153,831
Ensembl chr13:55,097,224...55,153,831 		JBrowse link
G Vwa1 von Willebrand factor A domain containing 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:155,852,952...155,859,042
Ensembl chr 4:155,852,606...155,859,155 		JBrowse link
G Wrap73 WD repeat containing, antisense to Trp73 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:154,226,811...154,241,278
Ensembl chr 4:154,226,829...154,251,877 		JBrowse link
G Zfp2 zinc finger protein 2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr11:50,788,092...50,807,043
Ensembl chr11:50,789,539...50,806,992 		JBrowse link
G Zfp346 zinc finger protein 346 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr13:55,253,079...55,282,884
Ensembl chr13:55,253,124...55,282,638 		JBrowse link
G Zfp354a zinc finger protein 354A ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr11:50,950,052...50,963,626
Ensembl chr11:50,950,084...50,963,626 		JBrowse link
G Zfp354b zinc finger protein 354B ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr11:50,812,613...50,822,486
Ensembl chr11:50,812,650...50,822,460 		JBrowse link
G Zfp454 zinc finger protein 454 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr11:50,763,545...50,778,463
Ensembl chr11:50,763,547...50,778,478 		JBrowse link
Ehlers-Danlos syndrome spondylodysplastic type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc39a13 solute carrier family 39 (metal ion transporter), member 13 ISO ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 3 | ClinVar Annotator: match by term: Spondylocheirodysplasia, Ehlers-Danlos syndrome-like
CTD Direct Evidence: marker/mechanism
DNA:deletion:cds:c.483_491del9 (human)		 OMIM
ClinVar
CTD
RGD		 PMID:9536098 PMID:17576681 PMID:18513683 PMID:18985159 PMID:24033266 More... RGD:11553863 NCBI chr 2:90,892,136...90,900,754
Ensembl chr 2:90,892,136...90,900,762 		JBrowse link
Ehlers-Danlos Syndrome Type 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col3a1 collagen, type III, alpha 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos Syndrome Type IV | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 4 ClinVar PMID:1352273 PMID:1357232 PMID:1370809 PMID:1496983 PMID:1556139 More... NCBI chr 1:45,350,698...45,388,866
Ensembl chr 1:45,350,698...45,388,866 		JBrowse link
G Col5a2 collagen, type V, alpha 2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 4 ClinVar PMID:20648054 PMID:22696272 PMID:23587214 PMID:24922459 PMID:28492532 NCBI chr 1:45,413,491...45,542,442
Ensembl chr 1:45,413,481...45,542,442 		JBrowse link
G Slc40a1 solute carrier family 40 (iron-regulated transporter), member 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 4 ClinVar PMID:20648054 PMID:23587214 PMID:28492532 NCBI chr 1:45,947,230...45,965,690
Ensembl chr 1:45,947,228...45,965,683 		JBrowse link
G Wdr75 WD repeat domain 75 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 4 ClinVar PMID:20648054 PMID:23587214 PMID:28492532 NCBI chr 1:45,834,313...45,862,798
Ensembl chr 1:45,834,326...45,862,779 		JBrowse link
essential thrombocythemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atg2b autophagy related 2B ISO ClinVar Annotator: match by term: Thrombocythemia 1 ClinVar NCBI chr12:105,579,798...105,651,554
Ensembl chr12:105,582,395...105,651,470 		JBrowse link
G Bdkrb1 bradykinin receptor, beta 1 ISO ClinVar Annotator: match by term: Thrombocythemia 1 ClinVar NCBI chr12:105,570,350...105,571,770
Ensembl chr12:105,569,344...105,571,687 		JBrowse link
G Bdkrb2 bradykinin receptor, beta 2 ISO ClinVar Annotator: match by term: Thrombocythemia 1 ClinVar NCBI chr12:105,529,431...105,561,503
Ensembl chr12:105,529,485...105,561,496 		JBrowse link
G Calr calreticulin severity ISO ClinVar Annotator: match by term: Thrombocythemia 1
DNA:mutations:multiple (human)		 OMIM
ClinVar
RGD		 PMID:24325356 PMID:24325359 PMID:25741868 PMID:24496303 PMID:25860380 RGD:11352751, RGD:11352747 NCBI chr 8:85,568,717...85,573,560
Ensembl chr 8:85,568,479...85,573,563 		JBrowse link
G Cd36 CD36 molecule ISO protein:increased expression:platelet, cell surface RGD PMID:8555064 RGD:11041099 NCBI chr 5:17,986,680...18,093,828
Ensembl chr 5:17,986,688...18,093,799 		JBrowse link
G Cd40lg CD40 ligand ISO protein:increased expression:serum (human) RGD PMID:22196954 RGD:11344979 NCBI chr  X:56,257,448...56,269,402
Ensembl chr  X:56,257,503...56,269,402 		JBrowse link
G Cux2 cut-like homeobox 2 ISO ClinVar Annotator: match by term: Thrombocythemia 1 ClinVar PMID:20404132 PMID:25741868 NCBI chr 5:121,996,025...122,188,522
Ensembl chr 5:121,994,429...122,188,165 		JBrowse link
G D430019H16Rik RIKEN cDNA D430019H16 gene ISO ClinVar Annotator: match by term: Thrombocythemia 1 ClinVar NCBI chr12:105,420,115...105,459,354
Ensembl chr12:105,420,115...105,459,354 		JBrowse link
G Elane elastase, neutrophil expressed ISO protein:increased expression:plasma: RGD PMID:18768782 RGD:10450556 NCBI chr10:79,722,146...79,724,050
Ensembl chr10:79,722,081...79,724,049 		JBrowse link
G Fgf2 fibroblast growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15682418 NCBI chr 3:37,402,616...37,464,255
Ensembl chr 3:37,402,495...37,464,257 		JBrowse link
G Gskip GSK3B interacting protein ISO ClinVar Annotator: match by term: Thrombocythemia 1 ClinVar NCBI chr12:105,651,611...105,669,317
Ensembl chr12:105,651,088...105,669,282 		JBrowse link
G Jak2 Janus kinase 2 severity ISO
IAGP		 DNA:mutation: :p.V617F (human)
OMIM:187950 | OMIM:300331 | OMIM:601977 | OMIM:614521
CTD Direct Evidence: marker/mechanism		 MouseDO
CTD
RGD		 PMID:15781101 PMID:15858187 PMID:16484586 PMID:16896569 PMID:19154659 More... RGD:10449178 NCBI chr19:29,229,006...29,290,495
Ensembl chr19:29,229,228...29,290,480 		JBrowse link
G Mpl myeloproliferative leukemia virus oncogene ISO DNA:missense mutation:cds:pS505N (human)
ClinVar Annotator: match by term: Essential thrombocythemia | ClinVar Annotator: match by term: Thrombocythemia 1
mRNA, protein:decreased expression:blood, platelet (human)		 ClinVar
RGD		 PMID:8073287 PMID:10971406 PMID:11071383 PMID:11133753 PMID:14764528 More... RGD:10449014, RGD:10449016 NCBI chr 4:118,299,609...118,314,771
Ensembl chr 4:118,299,612...118,314,710 		JBrowse link
G Myb myeloblastosis oncogene IAGP OMIM:187950 | OMIM:300331 | OMIM:601977 | OMIM:614521 MouseDO NCBI chr10:21,000,829...21,036,883
Ensembl chr10:21,000,834...21,036,883 		JBrowse link
G Pdgfa platelet derived growth factor, alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:15682418 NCBI chr 5:138,961,761...138,986,336
Ensembl chr 5:138,961,769...138,983,125 		JBrowse link
G Pdgfb platelet derived growth factor, B polypeptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:15682418 NCBI chr15:79,880,066...79,899,178
Ensembl chr15:79,880,075...79,899,178 		JBrowse link
G Sh2b3 SH2B adaptor protein 3 ISO ClinVar Annotator: match by term: Idiopathic thrombocythemia | ClinVar Annotator: match by term: THROMBOCYTOSIS 1 | ClinVar Annotator: match by term: Thrombocythemia 1 OMIM
ClinVar		 PMID:15705783 PMID:20404132 PMID:23812944 PMID:25741868 PMID:27651169 More... NCBI chr 5:121,953,544...121,975,706
Ensembl chr 5:121,953,551...121,975,709 		JBrowse link
G Tcl1 T cell lymphoma breakpoint 1 ISO ClinVar Annotator: match by term: Thrombocythemia 1 ClinVar NCBI chr12:105,183,012...105,188,996
Ensembl chr12:105,183,009...105,189,052 		JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15682418 NCBI chr 7:25,386,406...25,404,503
Ensembl chr 7:25,386,427...25,404,502 		JBrowse link
G Thpo thrombopoietin ISO ClinVar Annotator: match by term: Thrombocythemia 1
DNA:mutation:splice junction:		 OMIM
ClinVar
RGD		 PMID:7772529 PMID:9425899 PMID:9694695 PMID:10583217 PMID:16199547 More... RGD:1580083 NCBI chr16:20,543,204...20,553,261
Ensembl chr16:20,543,204...20,553,261 		JBrowse link
G Tunar Tcl1 upstream neural differentiation associated RNA ISO ClinVar Annotator: match by term: Thrombocythemia 1 ClinVar NCBI chr12:105,303,087...105,350,191
Ensembl chr12:105,300,129...105,350,191 		JBrowse link
G Vcam1 vascular cell adhesion molecule 1 ISO protein:increased expression:serum: RGD PMID:24434346 RGD:11354980 NCBI chr 3:115,903,669...115,923,337
Ensembl chr 3:115,903,598...115,923,337 		JBrowse link
G Vwf Von Willebrand factor ISO RGD PMID:25876231 RGD:11073823 NCBI chr 6:125,529,911...125,663,642
Ensembl chr 6:125,523,737...125,663,642 		JBrowse link
Evans Syndrome, Immunodeficiency, and Premature Immunosenescence associated with Tripeptidyl-Peptidase II Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bivm basic, immunoglobulin-like variable motif containing ISO ClinVar Annotator: match by term: Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ClinVar PMID:25414442 PMID:28492532 NCBI chr 1:44,158,032...44,183,931
Ensembl chr 1:44,158,117...44,183,930 		JBrowse link
G Ccdc168 coiled-coil domain containing 168 ISO ClinVar Annotator: match by term: Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ClinVar PMID:25414442 PMID:28492532 NCBI chr 1:44,095,031...44,118,906
Ensembl chr 1:44,095,032...44,118,906 		JBrowse link
G Ercc5 excision repair cross-complementing rodent repair deficiency, complementation group 5 ISO ClinVar Annotator: match by term: Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ClinVar PMID:25414442 PMID:28492532 NCBI chr 1:44,184,084...44,220,399
Ensembl chr 1:44,186,904...44,220,420 		JBrowse link
G Fgf14 fibroblast growth factor 14 ISO ClinVar Annotator: match by term: Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ClinVar PMID:25414442 PMID:28492532 NCBI chr14:124,211,257...124,915,098
Ensembl chr14:124,215,319...124,914,539 		JBrowse link
G Mettl21c methyltransferase 21C, AARS1 lysine ISO ClinVar Annotator: match by term: Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ClinVar PMID:25414442 PMID:28492532 NCBI chr 1:44,048,559...44,081,745
Ensembl chr 1:44,048,568...44,059,194 		JBrowse link
G Poglut2 protein O-glucosyltransferase 2 ISO ClinVar Annotator: match by term: Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ClinVar PMID:25414442 PMID:28492532 NCBI chr 1:44,143,060...44,158,844
Ensembl chr 1:44,145,706...44,157,968 		JBrowse link
G Slc10a2 solute carrier family 10, member 2 ISO ClinVar Annotator: match by term: Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ClinVar PMID:25414442 PMID:28492532 NCBI chr 8:5,133,219...5,155,287
Ensembl chr 8:5,133,219...5,155,351 		JBrowse link
G Tex30 testis expressed 30 ISO ClinVar Annotator: match by term: Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ClinVar PMID:25414442 PMID:28492532 NCBI chr 1:44,125,773...44,141,650
Ensembl chr 1:44,125,773...44,141,601 		JBrowse link
G Tpp2 tripeptidyl peptidase II ISO ClinVar Annotator: match by term: Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:25414442 PMID:25640679 More... NCBI chr 1:43,973,130...44,042,160
Ensembl chr 1:43,972,807...44,042,160 		JBrowse link
Factor V and Factor VIII, Combined Deficiency of, 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mcfd2 multiple coagulation factor deficiency 2 ISO ClinVar Annotator: match by term: Factor v and factor viii, combined deficiency of, 2
CTD Direct Evidence: marker/mechanism
DNA:missense mutation: :p.D122V (human)		 OMIM
ClinVar
CTD
RGD		 PMID:12717434 PMID:13229969 PMID:18391077 PMID:25741868 PMID:31064749 More... RGD:11062141 NCBI chr17:87,561,871...87,573,382
Ensembl chr17:87,561,871...87,573,363 		JBrowse link
factor V deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F5 coagulation factor V susceptibility ISO DNA:nonsense,misense mutations:cds:c.3571C>T, c.1691G>A(human)
ClinVar Annotator: match by term: Factor V deficiency | ClinVar Annotator: match by term: LABILE FACTOR DEFICIENCY | ClinVar Annotator: match by term: PARAHEMOPHILIA
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD
RGD		 PMID:7586244 PMID:7803250 PMID:7877648 PMID:7910348 PMID:7911872 More... RGD:11564334 NCBI chr 1:163,979,396...164,048,539
Ensembl chr 1:163,979,407...164,047,846 		JBrowse link
G Lman1 lectin, mannose-binding, 1 ISO F5F8D, OMIM:227300
ClinVar Annotator: match by term: Factor V deficiency		 ClinVar
RGD		 PMID:25741868 PMID:9546392 RGD:1600100 NCBI chr18:66,113,810...66,135,706
Ensembl chr18:66,113,809...66,155,651 		JBrowse link
G Tfpi tissue factor pathway inhibitor ISO protein:decreased expression:plasma: RGD PMID:18695002 RGD:11060145 NCBI chr 2:84,263,199...84,307,119
Ensembl chr 2:84,263,199...84,307,119 		JBrowse link
factor VII deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F10 coagulation factor X ISO ClinVar Annotator: match by term: Factor VII deficiency ClinVar PMID:10984565 PMID:12181036 PMID:25741868 NCBI chr 8:13,087,308...13,106,676
Ensembl chr 8:13,087,308...13,106,676 		JBrowse link
G F7 coagulation factor VII susceptibility ISO DNA:missense:R304Q, C310F
ClinVar Annotator: match by term: Congenital factor VII deficiency | ClinVar Annotator: match by term: Factor VII deficiency
CTD Direct Evidence: marker/mechanism
DNA:missense mutation, insertion:exon:p.R277C, g.11520-11521insT (human)		 OMIM
ClinVar
CTD
RGD		 PMID:1634227 PMID:2070047 PMID:6812354 PMID:7919338 PMID:7974346 More... RGD:1601133, RGD:11049524 NCBI chr 8:13,075,499...13,085,809
Ensembl chr 8:13,076,034...13,085,809 		JBrowse link
factor VIII deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C3 complement component 3 ISO protein:increased expression:blood RGD PMID:6912882 RGD:11041156 NCBI chr17:57,510,967...57,535,136
Ensembl chr17:57,510,970...57,535,136 		JBrowse link
G Cd40lg CD40 ligand treatment IMP RGD PMID:11776297 RGD:11352263 NCBI chr  X:56,257,448...56,269,402
Ensembl chr  X:56,257,503...56,269,402 		JBrowse link
G Cfb complement factor B ISO protein:increased expression:blood RGD PMID:6912882 RGD:11041156 NCBI chr17:35,075,350...35,081,492
Ensembl chr17:35,075,350...35,081,494 		JBrowse link
G Cfp complement factor properdin ISO protein:increased expression:blood RGD PMID:6912882 RGD:11041156 NCBI chr  X:20,791,693...20,797,794
Ensembl chr  X:20,791,693...20,797,794 		JBrowse link
G F2 coagulation factor II treatment ISO RGD PMID:26635073 RGD:11565076 NCBI chr 2:91,442,742...91,466,799
Ensembl chr 2:91,455,665...91,466,759 		JBrowse link
G F7 coagulation factor VII ISO ClinVar Annotator: match by term: Hemophilia ClinVar PMID:25741868 NCBI chr 8:13,075,499...13,085,809
Ensembl chr 8:13,076,034...13,085,809 		JBrowse link
G F8 coagulation factor VIII treatment ISO
IAGP		 ClinVar Annotator: match by term: F8-related condition | ClinVar Annotator: match by term: Factor 8 deficiency, congenital | ClinVar Annotator: match by term: Factor VIII deficiency, congenital | ClinVar Annotator: match by term: Hemophilia A | ClinVar Annotator: match by term: Hemophilia A, congenital | ClinVar Annotator: match by term: Hemophilia, classic
OMIM:134500
DNA,protein:missense mutation,decreased activity:exon:p.L176P(rat)
CTD Direct Evidence: marker/mechanism
DNA:missense mutations, nonsense mutations, frameshift mutation:exon:multiple		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:1301194 PMID:1301932 PMID:1301960 PMID:1349567 PMID:1357455 More... RGD:1582357, RGD:150520060, RGD:7245964, RGD:11530071, RGD:10450758, RGD:10450757 NCBI chr  X:74,213,950...74,426,342
Ensembl chr  X:74,216,321...74,426,221 		JBrowse link
G F9 coagulation factor IX ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Factor 8 deficiency, congenital | ClinVar Annotator: match by term: Factor VIII deficiency, congenital		 CTD
ClinVar		 PMID:1346975 PMID:1615486 PMID:1680287 PMID:1864609 PMID:1873221 More... NCBI chr  X:59,044,675...59,076,120
Ensembl chr  X:59,044,824...59,076,119 		JBrowse link
G Fcgr3 Fc receptor, IgG, low affinity III susceptibility ISO DNA:SNP:cds:p.R131H (human) RGD PMID:24916518 RGD:11040767 NCBI chr 1:170,878,738...170,893,477
Ensembl chr 1:170,878,743...170,892,504 		JBrowse link
G Fundc2 FUN14 domain containing 2 ISO ClinVar Annotator: match by term: Factor VIII deficiency, congenital | ClinVar Annotator: match by term: Hemophilia A ClinVar PMID:2105106 PMID:2563431 NCBI chr  X:74,426,005...74,440,764
Ensembl chr  X:74,426,005...74,440,065 		JBrowse link
G H2-Aa histocompatibility 2, class II antigen A, alpha ISO RGD PMID:9157572 RGD:11041784 NCBI chr17:34,501,718...34,506,797
Ensembl chr17:34,501,718...34,506,797 		JBrowse link
G H2ab2 H2A.B variant histone 2 ISO ClinVar Annotator: match by term: Factor VIII deficiency, congenital ClinVar PMID:2105106 PMID:22759210 NCBI chr  X:115,590,875...115,591,222
Ensembl chr  X:115,590,875...115,591,222 		JBrowse link
G Hc hemolytic complement ISO protein:increased expression:blood RGD PMID:6912882 RGD:11041156 NCBI chr 2:34,873,341...34,958,518
Ensembl chr 2:34,873,343...34,951,450 		JBrowse link
G Hmox1 heme oxygenase 1 treatment ISO DNA:repeat:promoter RGD PMID:23716558 RGD:10755564 NCBI chr 8:75,820,246...75,827,221
Ensembl chr 8:75,820,249...75,827,217 		JBrowse link
G Ifng interferon gamma treatment ISO DNA:SNP: :+874 A>T (human) RGD PMID:25930091 RGD:11055683 NCBI chr10:118,276,951...118,281,799
Ensembl chr10:118,276,951...118,281,797 		JBrowse link
G Il10 interleukin 10 treatment ISO DNA:SNPs, haplotypes:promoter:rs1800896 (-1082G/A), rs1800871 (-819C/T), rs1800872 (-592C/A) (human) RGD PMID:20082647 RGD:11049183 NCBI chr 1:130,947,459...130,952,707
Ensembl chr 1:130,947,582...130,952,711 		JBrowse link
G Mpp1 membrane protein, palmitoylated ISO ClinVar Annotator: match by term: Factor VIII deficiency, congenital ClinVar PMID:2105106 NCBI chr  X:74,153,339...74,174,622
Ensembl chr  X:74,153,339...74,174,622 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase severity
no_association		 ISO DNA:SNP: :677C>T (human)
DNA:SNP: :1298A>C (human)		 RGD PMID:22411997 PMID:22411997 RGD:10449409, RGD:10449409 NCBI chr 4:148,123,534...148,144,019
Ensembl chr 4:148,123,534...148,144,008 		JBrowse link
G Plat plasminogen activator, tissue treatment ISO RGD PMID:1419807 RGD:11552591 NCBI chr 8:23,247,655...23,272,864
Ensembl chr 8:23,247,743...23,272,860 		JBrowse link
G Smim9 small integral membrane protein 9 ISO ClinVar Annotator: match by term: Factor VIII deficiency, congenital ClinVar PMID:2105106 NCBI chr  X:74,189,663...74,207,362
Ensembl chr  X:74,189,662...74,207,376 		JBrowse link
G Tfpi tissue factor pathway inhibitor treatment ISO
IMP		 RGD PMID:24263002 PMID:24687919 PMID:22355108 RGD:11060141, RGD:11060256, RGD:11060147 NCBI chr 2:84,263,199...84,307,119
Ensembl chr 2:84,263,199...84,307,119 		JBrowse link
G Tgfb1 transforming growth factor, beta 1 treatment ISO DNA:polymorphism: :869T>C(rs1982037)(human) RGD PMID:25930091 RGD:11055683 NCBI chr 7:25,386,406...25,404,503
Ensembl chr 7:25,386,427...25,404,502 		JBrowse link
G Vwf Von Willebrand factor treatment IMP
ISO		 ClinVar Annotator: match by term: Factor VIII deficiency, congenital ClinVar
RGD		 PMID:25741868 PMID:25955153 RGD:11073776 NCBI chr 6:125,529,911...125,663,642
Ensembl chr 6:125,523,737...125,663,642 		JBrowse link
Factor VIII Deficiency, Acquired term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F8 coagulation factor VIII ISO CTD Direct Evidence: therapeutic CTD PMID:11886462 NCBI chr  X:74,213,950...74,426,342
Ensembl chr  X:74,216,321...74,426,221 		JBrowse link
factor X deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 1700029H14Rik RIKEN cDNA 1700029H14 gene ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chr 8:13,600,722...13,612,555
Ensembl chr 8:13,600,733...13,612,461 		JBrowse link
G Adprhl1 ADP-ribosylhydrolase like 1 ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chr 8:13,268,449...13,304,079
Ensembl chr 8:13,271,663...13,304,162 		JBrowse link
G Ankrd10 ankyrin repeat domain 10 ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chr 8:11,661,581...11,694,617
Ensembl chr 8:11,661,583...11,685,757 		JBrowse link
G Arhgef7 Rho guanine nucleotide exchange factor ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chr 8:11,778,053...11,885,219
Ensembl chr 8:11,777,721...11,885,219 		JBrowse link
G Atp11a ATPase, class VI, type 11A ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chr 8:12,807,016...12,918,728
Ensembl chr 8:12,807,014...12,918,728 		JBrowse link
G Atp4b ATPase, H+/K+ exchanging, beta polypeptide ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chr 8:13,436,209...13,446,778
Ensembl chr 8:13,436,205...13,446,825 		JBrowse link
G Cars2 cysteinyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chr 8:11,564,017...11,600,781
Ensembl chr 8:11,563,977...11,600,783 		JBrowse link
G Cdc16 CDC16 cell division cycle 16 ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chr 8:13,807,650...13,831,951
Ensembl chr 8:13,807,676...13,831,938 		JBrowse link
G Cfap97d2 CFAP97 domain containing 2 ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chr 8:13,755,508...13,794,611
Ensembl chr 8:13,755,889...13,793,414 		JBrowse link
G Champ1 chromosome alignment maintaining phosphoprotein 1 ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chr 8:13,919,699...13,931,637
Ensembl chr 8:13,919,641...13,931,639 		JBrowse link
G Col4a1 collagen, type IV, alpha 1 ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chr 8:11,248,423...11,362,889
Ensembl chr 8:11,248,423...11,362,826 		JBrowse link
G Col4a2 collagen, type IV, alpha 2 ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chr 8:11,362,878...11,499,287
Ensembl chr 8:11,362,805...11,499,287 		JBrowse link
G Cul4a cullin 4A ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chr 8:13,155,623...13,197,940
Ensembl chr 8:13,155,621...13,197,940 		JBrowse link
G Dcun1d2 defective in cullin neddylation 1 domain containing 2 ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chr 8:13,305,963...13,337,833
Ensembl chr 8:13,305,963...13,338,131 		JBrowse link
G F10 coagulation factor X ISO DNA:point mutations:R366C;DNA:frameshift
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital factor X deficiency | ClinVar Annotator: match by term: F10 DEFICIENCY | ClinVar Annotator: match by term: Factor X deficiency | ClinVar Annotator: match by term: STUART-PROWER FACTOR DEFICIENCY
DNA:deletion:cds:c.302delG(human)		 CTD
ClinVar
OMIM
RGD		 PMID:1939653 PMID:1973167 PMID:1985698 PMID:2790181 PMID:3408671 More... RGD:1601104, RGD:11041731 NCBI chr 8:13,087,308...13,106,676
Ensembl chr 8:13,087,308...13,106,676 		JBrowse link
G F11 coagulation factor XI ISO ClinVar Annotator: match by term: Congenital factor X deficiency ClinVar PMID:25741868 PMID:31064749 NCBI chr 8:45,693,696...45,715,092
Ensembl chr 8:45,694,211...45,715,068 		JBrowse link
G F7 coagulation factor VII ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:10984565 PMID:12181036 PMID:25741868 PMID:34355501 NCBI chr 8:13,075,499...13,085,809
Ensembl chr 8:13,076,034...13,085,809 		JBrowse link
G Gas6 growth arrest specific 6 ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chr 8:13,515,374...13,544,535
Ensembl chr 8:13,515,374...13,544,490 		JBrowse link
G Gm32234 predicted gene, 32234 ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chr10:40,330,078...40,342,623 JBrowse link
G Grk1 G protein-coupled receptor kinase 1 ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chr 8:13,455,081...13,471,951
Ensembl chr 8:13,455,081...13,471,951 		JBrowse link
G Grtp1 GH regulated TBC protein 1 ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chr 8:13,226,869...13,250,695
Ensembl chr 8:13,222,022...13,250,620 		JBrowse link
G Ing1 inhibitor of growth family, member 1 ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chr 8:11,605,762...11,613,251
Ensembl chr 8:11,605,571...11,613,251 		JBrowse link
G Irs2 insulin receptor substrate 2 ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chr 8:11,034,681...11,058,929
Ensembl chr 8:11,034,681...11,058,458 		JBrowse link
G Lamp1 lysosomal-associated membrane protein 1 ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chr 8:13,209,161...13,225,338
Ensembl chr 8:13,209,161...13,225,338 		JBrowse link
G Mcf2l mcf.2 transforming sequence-like ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chr 8:12,923,806...13,070,502
Ensembl chr 8:12,923,806...13,070,905 		JBrowse link
G Myo16 myosin XVI ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chr 8:10,203,911...10,684,742
Ensembl chr 8:10,203,911...10,684,742 		JBrowse link
G Naxd NAD(P)HX dehydratase ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chr 8:11,547,506...11,563,287
Ensembl chr 8:11,547,506...11,564,960 		JBrowse link
G Pcid2 PCI domain containing 2 ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chr 8:13,125,476...13,155,343
Ensembl chr 8:13,127,189...13,155,459 		JBrowse link
G Proz protein Z, vitamin K-dependent plasma glycoprotein ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chr 8:13,110,583...13,126,026
Ensembl chr 8:13,110,914...13,126,026 		JBrowse link
G Rab20 RAB20, member RAS oncogene family ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chr 8:11,503,390...11,528,640
Ensembl chr 8:11,503,518...11,528,710 		JBrowse link
G Rasa3 RAS p21 protein activator 3 ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chr 8:13,617,218...13,727,590
Ensembl chr 8:13,616,948...13,727,603 		JBrowse link
G Sox1 SRY (sex determining region Y)-box 1 ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chr 8:12,445,519...12,449,555
Ensembl chr 8:12,445,295...12,450,126 		JBrowse link
G Sox1ot Sox1 overlapping transcript ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chr 8:12,435,771...12,486,732
Ensembl chr 8:12,435,771...12,486,768 		JBrowse link
G Spaca7 sperm acrosome associated 7 ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chr 8:12,623,038...12,650,744
Ensembl chr 8:12,623,029...12,650,744 		JBrowse link
G Tex29 testis expressed 29 ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chr 8:11,890,488...11,905,761
Ensembl chr 8:11,890,474...11,905,761 		JBrowse link
G Tfdp1 transcription factor Dp 1 ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chr 8:13,388,273...13,428,448
Ensembl chr 8:13,388,751...13,428,448 		JBrowse link
G Tmco3 transmembrane and coiled-coil domains 3 ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chr 8:13,333,214...13,372,924
Ensembl chr 8:13,338,190...13,372,924 		JBrowse link
G Tmem255b transmembrane protein 255B ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chr 8:13,485,118...13,543,434
Ensembl chr 8:13,485,189...13,518,473 		JBrowse link
G Tubgcp3 tubulin, gamma complex component 3 ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chr 8:12,664,277...12,722,141
Ensembl chr 8:12,664,277...12,722,248 		JBrowse link
G Upf3a UPF3 regulator of nonsense transcripts homolog A (yeast) ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chr 8:13,834,636...13,848,723
Ensembl chr 8:13,835,615...13,849,193 		JBrowse link
factor XI deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp4v3 cytochrome P450, family 4, subfamily v, polypeptide 3 ISO ClinVar Annotator: match by term: Hereditary factor XI deficiency disease ClinVar PMID:25741868 PMID:32581362 PMID:34355501 NCBI chr 8:45,758,838...45,786,200
Ensembl chr 8:45,757,981...45,786,253 		JBrowse link
G Duxbl1 double homeobox B-like 1 ISO ClinVar Annotator: match by term: Hereditary factor XI deficiency disease ClinVar PMID:25741868 PMID:34355501 NCBI chr14:25,979,011...25,990,590
Ensembl chr14:25,979,001...25,990,512 		JBrowse link
G F11 coagulation factor XI ISO
IAGP		 ClinVar Annotator: match by term: Hereditary factor XI deficiency disease | ClinVar Annotator: match by term: Plasma factor XI deficiency
CTD Direct Evidence: marker/mechanism
OMIM:612416
DNA:nonsense mutation:exon:G263X(human)
DNA:missense, nonsense, duplication, deletion:cds:		 ClinVar
CTD
MouseDO
OMIM
RGD		 PMID:1547342 PMID:2052060 PMID:2813350 PMID:7669672 PMID:7888672 More... RGD:1598923, RGD:11041742, RGD:11041741 NCBI chr 8:45,693,696...45,715,092
Ensembl chr 8:45,694,211...45,715,068 		JBrowse link
G Fat1 FAT atypical cadherin 1 ISO ClinVar Annotator: match by term: Hereditary factor XI deficiency disease ClinVar PMID:25741868 PMID:34355501 NCBI chr 8:45,386,137...45,505,294
Ensembl chr 8:45,388,484...45,505,294 		JBrowse link
G Frg1 FSHD region gene 1 ISO ClinVar Annotator: match by term: Hereditary factor XI deficiency disease ClinVar PMID:25741868 PMID:34355501 NCBI chr 8:41,842,218...41,870,179
Ensembl chr 8:41,850,496...41,870,111 		JBrowse link
G Klkb1 kallikrein B, plasma 1 ISO ClinVar Annotator: match by term: Hereditary factor XI deficiency disease ClinVar PMID:25741868 PMID:32581362 PMID:34355501 NCBI chr 8:45,719,725...45,747,872
Ensembl chr 8:45,719,726...45,747,896 		JBrowse link
G Mtnr1a melatonin receptor 1A ISO ClinVar Annotator: match by term: Hereditary factor XI deficiency disease ClinVar PMID:25741868 PMID:34355501 NCBI chr 8:45,522,144...45,542,270
Ensembl chr 8:45,522,174...45,541,543 		JBrowse link
G Triml1 tripartite motif family-like 1 ISO ClinVar Annotator: match by term: Hereditary factor XI deficiency disease ClinVar PMID:25741868 PMID:34355501 NCBI chr 8:43,582,843...43,633,531
Ensembl chr 8:43,582,844...43,594,523 		JBrowse link
G Triml2 tripartite motif family-like 2 ISO ClinVar Annotator: match by term: Hereditary factor XI deficiency disease ClinVar PMID:25741868 PMID:34355501 NCBI chr 8:43,633,500...43,646,921
Ensembl chr 8:43,633,578...43,646,918 		JBrowse link
G Zfp42 zinc finger protein 42 ISO ClinVar Annotator: match by term: Hereditary factor XI deficiency disease ClinVar PMID:25741868 PMID:34355501 NCBI chr 8:43,748,100...43,760,041
Ensembl chr 8:43,748,100...43,760,017 		JBrowse link
factor XII deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F12 coagulation factor XII (Hageman factor) ISO
IAGP		 DNA:missense:exon:C571S
ClinVar Annotator: match by term: Factor 12 deficiency | ClinVar Annotator: match by term: Factor XII deficiency disease
CTD Direct Evidence: marker/mechanism
OMIM:234000
DNA:deletion mutations, transversion mutation:introns, exon:
DNA:missense, nonsense, deletion mutations:cds:
DNA:polymorphism:promoter:-46C>T(human)		 ClinVar
CTD
MouseDO
OMIM
RGD		 PMID:8528215 PMID:9354665 PMID:9490684 PMID:9536098 PMID:10361128 More... RGD:1601107, RGD:11041805, RGD:11041772, RGD:11041769 NCBI chr13:55,565,771...55,574,617
Ensembl chr13:55,565,771...55,574,606 		JBrowse link
G Slc34a1 solute carrier family 34 (sodium phosphate), member 1 ISO ClinVar Annotator: match by term: Factor 12 deficiency | ClinVar Annotator: match by term: Factor XII deficiency disease ClinVar PMID:10984376 PMID:16638441 PMID:17186468 PMID:17825897 PMID:19178938 More... NCBI chr13:55,547,435...55,562,508
Ensembl chr13:55,546,000...55,563,405 		JBrowse link
factor XIII deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F13a1 coagulation factor XIII, A1 subunit ISO
IAGP		 DNA:nonsense mutation:intron:
ClinVar Annotator: match by term: Hereditary factor XIII deficiency disease
OMIM:613225 | OMIM:613235
CTD Direct Evidence: marker/mechanism
DNA:polymorphism:intron:IVS1+12C>A(human)
DNA:insertion, missense mutation:cds:
DNA:nonsense mutations, missense mutations:cds:
DNA:mutation:cds:p.R703W(human)		 ClinVar
MouseDO
CTD
RGD		 PMID:1644910 PMID:31136071 PMID:21512576 PMID:23508224 PMID:19937244 More... RGD:10450726, RGD:11041869, RGD:10450730, RGD:10450729, RGD:10450727 NCBI chr13:37,051,150...37,234,220
Ensembl chr13:37,051,152...37,234,220 		JBrowse link
G F13b coagulation factor XIII, beta subunit ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hereditary factor XIII deficiency disease		 CTD
ClinVar		 PMID:2334637 PMID:22353194 PMID:25044882 PMID:25741868 PMID:28399723 More... NCBI chr 1:139,429,285...139,451,496
Ensembl chr 1:139,429,440...139,451,490 		JBrowse link
G Lman1 lectin, mannose-binding, 1 ISO F5F8D, OMIM:227300 RGD PMID:9546392 RGD:1600100 NCBI chr18:66,113,810...66,135,706
Ensembl chr18:66,113,809...66,155,651 		JBrowse link
Factor XIII, A Subunit, Deficiency Of term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F13a1 coagulation factor XIII, A1 subunit ISO ClinVar Annotator: match by term: Factor XIII subunit A deficiency | ClinVar Annotator: match by term: Factor XIII, A subunit, deficiency of
CTD Direct Evidence: marker/mechanism
DNA:deletions, mutation: exons, splice site:c.980G>A (R326Q),c.1112+2T>C,c.215 delA)
DNA:nonsense, missense mutations:exons:p.R661X,p.T242M(human)		 OMIM
ClinVar
CTD
RGD		 PMID:1353995 PMID:7236530 PMID:7727776 PMID:7918041 PMID:8025280 More... RGD:11041856, RGD:11041811 NCBI chr13:37,051,150...37,234,220
Ensembl chr13:37,051,152...37,234,220 		JBrowse link
Factor XIII, B Subunit, Deficiency Of term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F13b coagulation factor XIII, beta subunit ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Factor XIII, b subunit, deficiency of
DNA:mutations:multiple:		 OMIM
CTD
ClinVar
RGD		 PMID:2334637 PMID:8324218 PMID:8639893 PMID:11313256 PMID:12456499 More... RGD:10450738 NCBI chr 1:139,429,285...139,451,496
Ensembl chr 1:139,429,440...139,451,490 		JBrowse link
Familial Cerebral Cavernous Malformation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace angiotensin I converting enzyme ISO DNA:deletion:intron:IVS16+1464-1751del (human) RGD PMID:20488708 RGD:11039024 NCBI chr11:105,858,774...105,880,790
Ensembl chr11:105,858,771...105,880,790 		JBrowse link
G Cand2 cullin associated and neddylation dissociated 2 (putative) IEP RGD PMID:31426861 RGD:18899564 NCBI chr 6:115,751,518...115,782,516
Ensembl chr 6:115,751,499...115,782,518 		JBrowse link
Familial Mixed Cryoglobulinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fcgr4 Fc receptor, IgG, low affinity IV treatment ISO DNA:polymorphism: :p.V176F (human) RGD PMID:21538321 RGD:11344956 NCBI chr 1:170,846,495...170,857,330
Ensembl chr 1:170,846,489...170,857,330 		JBrowse link
Familial Multiple Coagulation Factor Deficiency I term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lman1 lectin, mannose-binding, 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: FMFD I		 OMIM
CTD
ClinVar		 PMID:9045860 PMID:9546392 PMID:18391077 PMID:25741868 PMID:31064749 NCBI chr18:66,113,810...66,135,706
Ensembl chr18:66,113,809...66,155,651 		JBrowse link
G Mcfd2 multiple coagulation factor deficiency 2 ISO ClinVar Annotator: match by term: FMFD I ClinVar PMID:12717434 PMID:13229969 PMID:25741868 PMID:31064749 NCBI chr17:87,561,871...87,573,382
Ensembl chr17:87,561,871...87,573,363 		JBrowse link
Familial Platelet Disorder with Associated Myeloid Malignancy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cbr1 carbonyl reductase 1 ISO ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 ClinVar PMID:25741868 PMID:34355501 NCBI chr16:93,404,752...93,407,226
Ensembl chr16:93,402,741...93,407,393 		JBrowse link
G Clic6 chloride intracellular channel 6 ISO ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematologic cancer predisposition syndrome | ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 ClinVar PMID:18723428 PMID:24100448 PMID:28492532 PMID:32581362 NCBI chr16:92,295,035...92,338,129
Ensembl chr16:92,282,624...92,338,131 		JBrowse link
G Kcne1 potassium voltage-gated channel, Isk-related subfamily, member 1 ISO ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematologic cancer predisposition syndrome ClinVar PMID:32581362 NCBI chr16:92,142,889...92,156,356
Ensembl chr16:92,142,870...92,156,356 		JBrowse link
G Kcne2 potassium voltage-gated channel, Isk-related subfamily, gene 2 ISO ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematologic cancer predisposition syndrome | ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 ClinVar PMID:18478040 PMID:18487507 PMID:19357396 PMID:19679353 PMID:21626672 More... NCBI chr16:92,089,277...92,095,021
Ensembl chr16:92,089,277...92,095,017 		JBrowse link
G LOC109648312 Runx1 +23 hematopoietic stem cell enhancer ISO ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 ClinVar PMID:25741868 PMID:28492532 PMID:34355501 NCBI chr16:92,598,384...92,598,916 JBrowse link
G Mir802 microRNA 802 ISO ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 ClinVar PMID:25741868 PMID:34355501 NCBI chr16:93,166,608...93,166,704
Ensembl chr16:93,166,608...93,166,704 		JBrowse link
G Mrps6 mitochondrial ribosomal protein S6 ISO ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematologic cancer predisposition syndrome ClinVar PMID:32581362 NCBI chr16:91,855,224...91,909,115
Ensembl chr16:91,855,158...91,909,115 		JBrowse link
G Rcan1 regulator of calcineurin 1 ISO ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematologic cancer predisposition syndrome ClinVar PMID:32581362 NCBI chr16:92,188,839...92,263,057
Ensembl chr16:92,188,841...92,267,755 		JBrowse link
G Runx1 runt related transcription factor 1 ISO ClinVar Annotator: match by term: Familial platelet disorder with associated myeloid malignancy | ClinVar Annotator: match by term: Familial thrombocytopenia with propensity to acute myelogenous leukemia | ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematologic cancer predisposition syndrome | ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 | ClinVar Annotator: match by term: Platelet disorder, Aspirin-like
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1958483 PMID:9536098 PMID:9606182 PMID:9837750 PMID:10068652 More... NCBI chr16:92,398,354...92,622,962
Ensembl chr16:92,398,354...92,623,037 		JBrowse link
G Setd4 SET domain containing 4 ISO ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 ClinVar PMID:25741868 PMID:34355501 NCBI chr16:93,380,345...93,401,693
Ensembl chr16:93,380,345...93,400,951 		JBrowse link
G Slc5a3 solute carrier family 5 (inositol transporters), member 3 ISO ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematologic cancer predisposition syndrome ClinVar PMID:32581362 NCBI chr16:91,855,210...91,884,361
Ensembl chr16:91,855,210...91,884,361 		JBrowse link
G Smim11 small integral membrane protein 11 ISO ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematologic cancer predisposition syndrome ClinVar PMID:32581362 NCBI chr16:92,098,131...92,109,929
Ensembl chr16:92,098,174...92,109,929 		JBrowse link
Gastrointestinal Ulceration, Recurrent, with Dysfunctional Platelets term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pla2g4a phospholipase A2, group IVA (cytosolic, calcium-dependent) ISO ClinVar Annotator: match by term: GASTROINTESTINAL ULCERATION, RECURRENT, WITH DYSFUNCTIONAL PLATELETS OMIM
ClinVar		 PMID:18451993 PMID:23268370 PMID:25102815 PMID:25741868 PMID:28492532 NCBI chr 1:149,705,369...149,837,041
Ensembl chr 1:149,705,369...149,837,041 		JBrowse link
Giant Platelet Syndrome with Thrombocytopenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myh9 myosin, heavy polypeptide 9, non-muscle ISO ClinVar Annotator: match by term: Giant platelet syndrome with thrombocytopenia ClinVar PMID:1449176 PMID:5011389 PMID:8280620 PMID:9390828 PMID:10603121 More... NCBI chr15:77,644,788...77,726,315
Ensembl chr15:77,644,787...77,726,375 		JBrowse link
Glanzmann Thrombasthenia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Itga2b integrin alpha 2b ISO ClinVar Annotator: match by term: Glanzmann thrombasthenia 1 OMIM
ClinVar		 PMID:1317725 PMID:1926040 PMID:2014236 PMID:7508443 PMID:7620188 More... NCBI chr11:102,344,134...102,360,570
Ensembl chr11:102,344,123...102,360,948 		JBrowse link
G Itgb3 integrin beta 3 ISO ClinVar Annotator: match by term: Glanzmann thrombasthenia 1 ClinVar PMID:1371279 PMID:1602006 PMID:9050889 PMID:9215749 PMID:9351872 More... NCBI chr11:104,498,826...104,561,302
Ensembl chr11:104,498,826...104,561,302 		JBrowse link
Glanzmann Thrombasthenia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Itgb3 integrin beta 3 ISO ClinVar Annotator: match by term: Glanzmann thrombasthenia 2 ClinVar
OMIM		 PMID:1371279 PMID:1438206 PMID:1602006 PMID:2014236 PMID:2392682 More... NCBI chr11:104,498,826...104,561,302
Ensembl chr11:104,498,826...104,561,302 		JBrowse link
Glanzmann's thrombasthenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Itga2 integrin alpha 2 severity ISO RGD PMID:14687991 RGD:1582297 NCBI chr13:114,969,617...115,068,588
Ensembl chr13:114,969,617...115,068,636 		JBrowse link
G Itga2b integrin alpha 2b ISO DNA:insertion/deletion:exon
ClinVar Annotator: match by term: BLEEDING DISORDER, PLATELET-TYPE, 2 | ClinVar Annotator: match by term: Glanzmann thrombasthenia | ClinVar Annotator: match by term: Glanzmann thrombasthenia type A | ClinVar Annotator: match by term: Thrombasthenia
CTD Direct Evidence: marker/mechanism
DNA:deletion:exon		 ClinVar
CTD
RGD		 PMID:1317725 PMID:1638023 PMID:1926040 PMID:2014236 PMID:7508443 More... RGD:10755476, RGD:10755480 NCBI chr11:102,344,134...102,360,570
Ensembl chr11:102,344,123...102,360,948 		JBrowse link
G Itgb3 integrin beta 3 ISO
IAGP		 ClinVar Annotator: match by term: BLEEDING DISORDER, PLATELET-TYPE, 2 | ClinVar Annotator: match by term: Glanzmann thrombasthenia | ClinVar Annotator: match by term: Glanzmann thrombasthenia type A | ClinVar Annotator: match by term: Thrombasthenia
OMIM:273800
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
RGD		 PMID:1371279 PMID:1430225 PMID:1438206 PMID:1602006 PMID:2014236 More... RGD:10755474 NCBI chr11:104,498,826...104,561,302
Ensembl chr11:104,498,826...104,561,302 		JBrowse link
G Mfn2 mitofusin 2 ISO ClinVar Annotator: match by term: BLEEDING DISORDER, PLATELET-TYPE, 2 ClinVar PMID:15549395 PMID:16437557 PMID:16762064 PMID:16835246 PMID:17444508 More... NCBI chr 4:147,958,043...147,989,527
Ensembl chr 4:147,958,056...147,989,161 		JBrowse link
gray platelet syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc12 coiled-coil domain containing 12 ISO ClinVar Annotator: match by term: Gray platelet syndrome ClinVar NCBI chr 9:110,483,376...110,540,661
Ensembl chr 9:110,485,571...110,540,674 		JBrowse link
G Gfi1b growth factor independent 1B ISO DNA:nonsense mutation:c.859C>T, p.Gln287X(human) RGD PMID:24325358 RGD:11040508 NCBI chr 2:28,499,462...28,511,994
Ensembl chr 2:28,499,462...28,511,994 		JBrowse link
G Nbeal2 neurobeachin-like 2 ISO
IAGP		 ClinVar Annotator: match by term: Gray platelet syndrome | ClinVar Annotator: match by term: NBEAL2-related condition
OMIM:139090
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:21765411 PMID:21765412 PMID:21765413 PMID:25741868 PMID:28492532 More... NCBI chr 9:110,453,857...110,483,229
Ensembl chr 9:110,453,857...110,483,229 		JBrowse link
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, 8, WITH RHIZOMELIC SHORT STATURE term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C1galt1c1 C1GALT1-specific chaperone 1 ISO ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, 8, with rhizomelic short stature ClinVar
OMIM		 PMID:25741868 PMID:36599939 PMID:37216524 NCBI chr  X:37,719,660...37,724,020
Ensembl chr  X:37,719,662...37,723,964 		JBrowse link
hemolytic-uremic syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alb albumin ISO CTD Direct Evidence: marker/mechanism CTD PMID:6734075 NCBI chr 5:90,608,729...90,624,461
Ensembl chr 5:90,608,756...90,624,461 		JBrowse link
G Ccl2 C-C motif chemokine ligand 2 ISO protein:increased expression:plasma (rat) RGD PMID:10201001 RGD:11528527 NCBI chr11:81,926,403...81,928,278
Ensembl chr11:81,926,397...81,928,279 		JBrowse link
G Ccl3 C-C motif chemokine ligand 3 IMP RGD PMID:17220320 RGD:7241820 NCBI chr11:83,538,669...83,540,204
Ensembl chr11:83,538,670...83,540,181 		JBrowse link
G Cd36 CD36 molecule ISO RGD PMID:16197457 RGD:6893534 NCBI chr 5:17,986,680...18,093,828
Ensembl chr 5:17,986,688...18,093,799 		JBrowse link
G Cd46 CD46 antigen, complement regulatory protein susceptibility ISO DNA:frameshift mutation:cds:p.N233X3 (human)
DNA:mutations:multiple (human)
DNA:deletion, missense mutation:cds:p.D237_S238del, p.S206P (human)		 RGD PMID:14615110 PMID:16189652 PMID:14566051 RGD:11352767, RGD:11531138, RGD:11352770 NCBI chr 1:194,721,279...194,781,149
Ensembl chr 1:194,719,134...194,774,557 		JBrowse link
G Cfh complement component factor h ISO
IAGP		 DNA:mutations, polymorphisms:promoter, exon:multiple MouseDO
RGD		 PMID:14583443 RGD:11041164 NCBI chr 1:140,013,593...140,111,149
Ensembl chr 1:140,012,446...140,111,502 		JBrowse link
G Dgke diacylglycerol kinase, epsilon ISO ClinVar Annotator: match by term: Hemolytic-uremic syndrome ClinVar PMID:25854283 NCBI chr11:88,926,005...88,951,644
Ensembl chr11:88,926,005...88,957,676 		JBrowse link
G Epo erythropoietin ISO CTD Direct Evidence: therapeutic CTD PMID:12053072 NCBI chr 5:137,481,282...137,484,078
Ensembl chr 5:137,481,282...137,531,504 		JBrowse link
G F2 coagulation factor II ISO associated with diarrhea;protein:increased expression:plasma (human) RGD PMID:9423793 RGD:40818428 NCBI chr 2:91,442,742...91,466,799
Ensembl chr 2:91,455,665...91,466,759 		JBrowse link
G Fos FBJ osteosarcoma oncogene IEP RGD PMID:15632024 RGD:7242276 NCBI chr12:85,520,664...85,524,048
Ensembl chr12:85,520,664...85,524,047 		JBrowse link
G Hp haptoglobin ISO RGD PMID:6218601 RGD:1626361 NCBI chr 8:110,301,760...110,305,804
Ensembl chr 8:110,301,760...110,305,804 		JBrowse link
G Il1a interleukin 1 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:15384034 NCBI chr 2:129,141,530...129,151,892
Ensembl chr 2:129,141,530...129,151,892 		JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:15384034 NCBI chr 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059 		JBrowse link
G Il1rl1 interleukin 1 receptor-like 1 severity ISO associated with Escherichia Coli Infections; RGD PMID:30467800 RGD:39458200 NCBI chr 1:40,444,105...40,504,575
Ensembl chr 1:40,468,730...40,504,575 		JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO protein:increased concentration:serum (human) RGD PMID:9802632 PMID:12373296 RGD:6909134, RGD:6909171 NCBI chr 2:24,226,872...24,241,503
Ensembl chr 2:24,226,865...24,241,506 		JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15384034 NCBI chr 5:30,218,112...30,224,973
Ensembl chr 5:30,218,112...30,224,979 		JBrowse link
G Mbl2 mannose-binding lectin (protein C) 2 treatment ISO RGD PMID:27378476 RGD:11530050 NCBI chr19:30,210,306...30,217,087
Ensembl chr19:30,210,342...30,217,087 		JBrowse link
G Nqo1 NAD(P)H dehydrogenase, quinone 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12588957 NCBI chr 8:108,114,856...108,139,012
Ensembl chr 8:108,114,857...108,129,838 		JBrowse link
G Pla2g7 phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma) severity ISO associated with Escherichia coli Infections; DNA:transversion mutation: :994 G>T (human) RGD PMID:10873870 RGD:7257516 NCBI chr17:43,879,009...43,923,093
Ensembl chr17:43,878,989...43,923,092 		JBrowse link
G Plat plasminogen activator, tissue ISO associated with Escherichia coli Infections;protein:increased expression:plasma (human) RGD PMID:11777999 RGD:11541069 NCBI chr 8:23,247,655...23,272,864
Ensembl chr 8:23,247,743...23,272,860 		JBrowse link
G Thbd thrombomodulin IMP RGD PMID:22942429 RGD:11038690 NCBI chr 2:148,246,391...148,250,108
Ensembl chr 2:148,246,386...148,250,108 		JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:15384034 NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983 		JBrowse link
G Tsen2 tRNA splicing endonuclease subunit 2 ISO ClinVar Annotator: match by term: Hemolytic-uremic syndrome ClinVar PMID:34964109 NCBI chr 6:115,521,652...115,555,297
Ensembl chr 6:115,521,625...115,555,589 		JBrowse link
hemophilia B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp11c ATPase, class VI, type 11C ISO ClinVar Annotator: match by term: Hereditary factor IX deficiency disease ClinVar PMID:2198809 PMID:3029178 PMID:4045960 PMID:8304338 PMID:24375831 More... NCBI chr  X:59,268,643...59,450,041
Ensembl chr  X:59,268,650...59,636,304 		JBrowse link
G F2 coagulation factor II treatment ISO RGD PMID:26635073 RGD:11565076 NCBI chr 2:91,442,742...91,466,799
Ensembl chr 2:91,455,665...91,466,759 		JBrowse link
G F8 coagulation factor VIII ISO ClinVar Annotator: match by term: Factor IX deficiency | ClinVar Annotator: match by term: Hereditary factor IX deficiency disease ClinVar PMID:1301932 PMID:1301960 PMID:1349567 PMID:1357455 PMID:1671991 More... NCBI chr  X:74,213,950...74,426,342
Ensembl chr  X:74,216,321...74,426,221 		JBrowse link
G F9 coagulation factor IX treatment ISO
IAGP
IMP		 ClinVar Annotator: match by term: Factor IX deficiency | ClinVar Annotator: match by term: Hemophilia B Brandenburg | ClinVar Annotator: match by term: Hemophilia B leyden | ClinVar Annotator: match by term: Hemophilia B, Factor IX Deficiency | ClinVar Annotator: match by term: Hemophilia b(m) | ClinVar Annotator: match by term: Hereditary factor IX deficiency disease
OMIM:306900
CTD Direct Evidence: marker/mechanism
DNA:mutations:cds:P.G396R,K411X,I397T(human)
DNA:nonsense mutation:cds:p.R338X (human)		 OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:734633 PMID:884315 PMID:1346077 PMID:1346975 PMID:1357229 More... RGD:10450764, RGD:10450762, RGD:10450761, RGD:10450760, RGD:10450759, RGD:9685705 NCBI chr  X:59,044,675...59,076,120
Ensembl chr  X:59,044,824...59,076,119 		JBrowse link
G Gm7073 predicted gene 7073 ISO ClinVar Annotator: match by term: Hereditary factor IX deficiency disease ClinVar PMID:2198809 PMID:3029178 PMID:4045960 PMID:8304338 PMID:24375831 More... NCBI chr  X:59,481,236...59,502,437
Ensembl chr  X:59,481,241...59,502,437 		JBrowse link
G Mcf2 mcf.2 transforming sequence ISO ClinVar Annotator: match by term: Hereditary factor IX deficiency disease ClinVar PMID:2198809 PMID:3029178 PMID:4045960 PMID:8304338 PMID:24375831 More... NCBI chr  X:59,101,316...59,224,546
Ensembl chr  X:59,101,316...59,224,449 		JBrowse link
G Sox3 SRY (sex determining region Y)-box 3 ISO ClinVar Annotator: match by term: Hereditary factor IX deficiency disease ClinVar PMID:2198809 PMID:3029178 PMID:4045960 PMID:8304338 PMID:24375831 More... NCBI chr  X:59,934,972...59,937,045
Ensembl chr  X:59,934,972...59,937,036 		JBrowse link
Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Cataracts term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Jam3 junction adhesion molecule 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hemorrhagic destruction of the brain, subependymal calcification, and cataracts		 OMIM
CTD
ClinVar		 PMID:21109224 PMID:23255084 PMID:25741868 PMID:25741869 PMID:28492532 More... NCBI chr 9:27,008,680...27,066,739
Ensembl chr 9:27,008,680...27,066,717 		JBrowse link
Henoch-Schoenlein purpura term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace angiotensin I converting enzyme disease_progression ISO DNA:deletion:intron:IVS16+1464-1751del (human) RGD PMID:15315169 RGD:11038920 NCBI chr11:105,858,774...105,880,790
Ensembl chr11:105,858,771...105,880,790 		JBrowse link
G Agt angiotensinogen severity ISO DNA:missense mutation:cds:p.M235T (human)
DNA:missense mutation:cds:p.T174M (human)		 RGD PMID:16521052 PMID:20702504 RGD:11039045, RGD:11039055 NCBI chr 8:125,283,326...125,296,445
Ensembl chr 8:125,283,273...125,296,445 		JBrowse link
G C3 complement component 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:1353212 NCBI chr17:57,510,967...57,535,136
Ensembl chr17:57,510,970...57,535,136 		JBrowse link
G Ccl2 C-C motif chemokine ligand 2 susceptibility ISO DNA:snp:promoter:g.-2518C>T (human)
protein:increased expression:serum (human)		 RGD PMID:26234573 PMID:25839768 RGD:11522500, RGD:11528567 NCBI chr11:81,926,403...81,928,278
Ensembl chr11:81,926,397...81,928,279 		JBrowse link
G Cd86 CD86 antigen treatment ISO protein:increased expression:venous blood, B cell (human) RGD PMID:27030970 RGD:11354986 NCBI chr16:36,389,318...36,486,439
Ensembl chr16:36,424,231...36,486,443 		JBrowse link
G H2-Aa histocompatibility 2, class II antigen A, alpha susceptibility ISO DNA:polymorphisms:cds:HLA-DQA1*0301, HLA-DQA1*0302 (human) RGD PMID:11836690 RGD:5147830 NCBI chr17:34,501,718...34,506,797
Ensembl chr17:34,501,718...34,506,797 		JBrowse link
G Hmox1 heme oxygenase 1 ISO protein:increased expression:serum RGD PMID:20013271 RGD:10755701 NCBI chr 8:75,820,246...75,827,221
Ensembl chr 8:75,820,249...75,827,217 		JBrowse link
G Igf1 insulin-like growth factor 1 ISO protein:increased expression:serum RGD PMID:20013271 RGD:10755701 NCBI chr10:87,694,127...87,772,909
Ensembl chr10:87,694,127...87,772,904 		JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO DNA:repeats:intron:IVS2+914_1000dup IL1RN*2 (human) RGD PMID:9186886 RGD:6909151 NCBI chr 2:24,226,872...24,241,503
Ensembl chr 2:24,226,865...24,241,506 		JBrowse link
G Il27 interleukin 27 ISO mRNA,protein:decreased expression:peripheral blood mononuclear cell, blood serum (human)" RGD PMID:33280050 RGD:126790550 NCBI chr 7:126,188,181...126,194,197
Ensembl chr 7:126,188,182...126,194,113 		JBrowse link
G Il5 interleukin 5 ISO protein:increased expression:serum RGD PMID:16787590 RGD:11354946 NCBI chr11:53,611,621...53,615,930
Ensembl chr11:53,611,621...53,615,933 		JBrowse link
G Kng1 kininogen 1 ISO protein:increased expression:serum RGD PMID:26098644 RGD:11059888 NCBI chr16:22,876,970...22,900,828
Ensembl chr16:22,876,615...22,900,828 		JBrowse link
G Kng2 kininogen 2 ISO protein:increased expression:serum RGD PMID:26098644 RGD:11059888 NCBI chr16:22,804,602...22,847,851
Ensembl chr16:22,804,604...22,848,232 		JBrowse link
G Mefv Mediterranean fever susceptibility ISO DNA:mutations:exons:
DNA:mutations:cds:
DNA:mutation:exon:p. E148Q (human)		 RGD PMID:22451026 PMID:25232290 PMID:20602240 RGD:7349346, RGD:11531116, RGD:7349347 NCBI chr16:3,524,838...3,536,073
Ensembl chr16:3,525,082...3,535,961 		JBrowse link
G Plat plasminogen activator, tissue ISO protein:increased expression:plasma (human) RGD PMID:9543574 RGD:11541055 NCBI chr 8:23,247,655...23,272,864
Ensembl chr 8:23,247,743...23,272,860 		JBrowse link
G Plau plasminogen activator, urokinase ISO CTD Direct Evidence: therapeutic CTD PMID:9002298 PMID:12671112 NCBI chr14:20,886,730...20,893,456
Ensembl chr14:20,886,728...20,893,453 		JBrowse link
G Pon1 paraoxonase 1 susceptibility ISO DNA:missense mutations:cds:p.L55M, p.Q192R (human) RGD PMID:19967651 RGD:11552576 NCBI chr 6:5,168,101...5,193,824
Ensembl chr 6:5,168,090...5,193,946 		JBrowse link
Heparin-induced Thrombocytopenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fcgr4 Fc receptor, IgG, low affinity IV susceptibility ISO DNA:SNP:cds:p.V158F(human) RGD PMID:15191947 RGD:11040991 NCBI chr 1:170,846,495...170,857,330
Ensembl chr 1:170,846,489...170,857,330 		JBrowse link
G Il10 interleukin 10 no_association ISO DNA:repeats, haplotype:promoter
DNA:SNPs:promoter:rs1800896 (-1082G/A), rs1800871 (-819C/T), rs1800872 (-592C/A) (human)		 RGD PMID:22239992 PMID:22239992 RGD:11049164, RGD:11049164 NCBI chr 1:130,947,459...130,952,707
Ensembl chr 1:130,947,582...130,952,711 		JBrowse link
hereditary hemorrhagic telangiectasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acvrl1 activin A receptor, type II-like 1 ISO
IAGP		 ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia | ClinVar Annotator: match by term: Osler hemorrhagic telangiectasia syndrome
OMIM:187300 | OMIM:600376 | OMIM:601101 | OMIM:615506
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
RGD		 PMID:9536098 PMID:12114496 PMID:15024723 PMID:15065824 PMID:15517393 More... RGD:1300352 NCBI chr15:101,026,403...101,043,217
Ensembl chr15:101,026,403...101,043,217 		JBrowse link
G Ak1 adenylate kinase 1 ISO ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia ClinVar PMID:15879500 PMID:20414677 PMID:28492532 NCBI chr 2:32,511,770...32,525,070
Ensembl chr 2:32,511,770...32,525,070 		JBrowse link
G Ccnh cyclin H ISO ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia ClinVar PMID:18446851 PMID:24038909 PMID:25741868 PMID:28295764 PMID:28492532 More... NCBI chr13:85,337,504...85,361,850
Ensembl chr13:85,337,527...85,371,588 		JBrowse link
G Ciao3 cytosolic iron-sulfur assembly component 3 ISO ClinVar Annotator: match by term: Pulmonary arteriovenous malformation ClinVar NCBI chr17:25,992,750...26,002,306
Ensembl chr17:25,992,750...26,002,306 		JBrowse link
G Dpm2 dolichyl-phosphate mannosyltransferase subunit 2, regulatory ISO ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia ClinVar PMID:15879500 PMID:20414677 PMID:28492532 NCBI chr 2:32,460,870...32,463,583
Ensembl chr 2:32,460,870...32,463,591 		JBrowse link
G Eng endoglin no_association ISO
IAGP
IMP		 ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia | ClinVar Annotator: match by term: Osler-Rendu-Weber disease
ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia | ClinVar Annotator: match by term: Osler hemorrhagic telangiectasia syndrome | ClinVar Annotator: match by term: Osler-Rendu-Weber disease
OMIM:187300 | OMIM:600376 | OMIM:601101 | OMIM:615506
DNA:mutations:
CTD Direct Evidence: marker/mechanism
DNA:mutations:multiple:		 ClinVar
MouseDO
CTD
RGD		 PMID:7894484 PMID:8162075 PMID:8595426 PMID:9157574 PMID:9245986 More... RGD:1300352, RGD:11035216, RGD:11041566, RGD:11041563, RGD:11041183, RGD:11041169 NCBI chr 2:32,536,607...32,572,681
Ensembl chr 2:32,536,607...32,572,681 		JBrowse link
G Gdf2 growth differentiation factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26801773 NCBI chr14:33,662,996...33,669,155
Ensembl chr14:33,662,996...33,669,155 		JBrowse link
G Pip5kl1 phosphatidylinositol-4-phosphate 5-kinase-like 1 ISO ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia ClinVar PMID:15879500 PMID:20414677 PMID:28492532 NCBI chr 2:32,465,238...32,473,799
Ensembl chr 2:32,464,809...32,473,794 		JBrowse link
G Rasa1 RAS p21 protein activator 1 ISO ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia ClinVar PMID:18446851 PMID:24038909 PMID:25741868 PMID:28295764 PMID:28492532 More... NCBI chr13:85,362,893...85,437,487
Ensembl chr13:85,362,899...85,437,249 		JBrowse link
G Smad4 SMAD family member 4 ISO DNA:missense,frameshift, nonsense mutations:exons:
ClinVar Annotator: match by term: Osler hemorrhagic telangiectasia syndrome		 ClinVar
RGD		 PMID:25741868 PMID:28492532 PMID:16613914 RGD:11035218 NCBI chr18:73,767,861...73,836,862
Ensembl chr18:73,772,080...73,836,851 		JBrowse link
G St6galnac4 ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 4 ISO ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia ClinVar PMID:15879500 PMID:20414677 PMID:28492532 NCBI chr 2:32,477,100...32,489,710
Ensembl chr 2:32,477,107...32,489,710 		JBrowse link
G St6galnac6 ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6 ISO ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia ClinVar PMID:15879500 PMID:20414677 PMID:28492532 NCBI chr 2:32,489,721...32,510,821
Ensembl chr 2:32,489,721...32,510,818 		JBrowse link
G Tnf tumor necrosis factor ISO protein:decreased expression:blood, lymphocyte RGD PMID:16611101 RGD:10450733 NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983 		JBrowse link
Hereditary Hemorrhagic Telangiectasia, Type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acvrl1 activin A receptor, type II-like 1 ISO ClinVar Annotator: match by term: Telangiectasia, hereditary hemorrhagic, type 1 ClinVar PMID:9536098 PMID:15024723 PMID:15065824 PMID:15517393 PMID:15712271 More... NCBI chr15:101,026,403...101,043,217
Ensembl chr15:101,026,403...101,043,217 		JBrowse link
G Eng endoglin ISO ClinVar Annotator: match by term: ENG-related condition | ClinVar Annotator: match by term: Haemorrhagic telangiectasia 1 | ClinVar Annotator: match by term: Telangiectasia, hereditary hemorrhagic, type 1 ClinVar
OMIM
RGD		 PMID:2601709 PMID:7894484 PMID:8162075 PMID:9245986 PMID:9366572 More... RGD:11041166 NCBI chr 2:32,536,607...32,572,681
Ensembl chr 2:32,536,607...32,572,681 		JBrowse link
G Psen1 presenilin 1 ISO ClinVar Annotator: match by term: Telangiectasia, hereditary hemorrhagic, type 1 ClinVar PMID:25741868 PMID:29142009 PMID:30822634 PMID:32235595 NCBI chr12:83,734,926...83,781,869
Ensembl chr12:83,734,926...83,781,973 		JBrowse link
G Smad4 SMAD family member 4 ISO ClinVar Annotator: match by term: Telangiectasia, hereditary hemorrhagic, type 1 ClinVar NCBI chr18:73,767,861...73,836,862
Ensembl chr18:73,772,080...73,836,851 		JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO protein:decreased expression:plasma: RGD PMID:15907823 RGD:11041166 NCBI chr 7:25,386,406...25,404,503
Ensembl chr 7:25,386,427...25,404,502 		JBrowse link
Hereditary Hemorrhagic Telangiectasia, Type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acvrl1 activin A receptor, type II-like 1 ISO
IMP		 DNA:nonsense mutation:cds:145del(human)
DNA:deletion, insertion and missense mutations:exons:
DNA:mutations:
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Lip telangiectasia | ClinVar Annotator: match by term: Telangiectasia, hereditary hemorrhagic, type 2		 OMIM
CTD
ClinVar
RGD		 PMID:6470589 PMID:8640225 PMID:9245985 PMID:9536098 PMID:10187774 More... RGD:10769364, RGD:11035213, RGD:11035214, RGD:11035216 NCBI chr15:101,026,403...101,043,217
Ensembl chr15:101,026,403...101,043,217 		JBrowse link
G Eng endoglin ISO ClinVar Annotator: match by term: Oral cavity telangiectasia ClinVar PMID:25741868 NCBI chr 2:32,536,607...32,572,681
Ensembl chr 2:32,536,607...32,572,681 		JBrowse link
Hereditary Hemorrhagic Telangiectasia, Type 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gdf2 growth differentiation factor 2 ISO ClinVar Annotator: match by term: Telangiectasia, hereditary hemorrhagic, type 5
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:23972370 PMID:25741868 PMID:26801773 PMID:27081547 PMID:28492532 More... NCBI chr14:33,662,996...33,669,155
Ensembl chr14:33,662,996...33,669,155 		JBrowse link
Hermansky-Pudlak syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap3b1 adaptor-related protein complex 3, beta 1 subunit ISO
IAGP
IMP		 ClinVar Annotator: match by term: Hermansky-Pudlak syndrome
DNA:duplication, deletions:introns, exons: (mouse)		 ClinVar
RGD		 PMID:16507770 PMID:23403622 PMID:24033266 PMID:25741868 PMID:28492532 More... RGD:1578409, RGD:11087577, RGD:11087576 NCBI chr13:94,492,332...94,702,838
Ensembl chr13:94,495,468...94,702,825 		JBrowse link
G Ap3d1 adaptor-related protein complex 3, delta 1 subunit ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome		 CTD
ClinVar		 NCBI chr10:80,542,790...80,578,137
Ensembl chr10:80,542,790...80,578,098 		JBrowse link
G Bloc1s3 biogenesis of lysosomal organelles complex-1, subunit 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome		 CTD
ClinVar		 PMID:25741868 PMID:31064749 NCBI chr 7:19,239,708...19,242,295
Ensembl chr 7:19,238,411...19,242,292 		JBrowse link
G Bloc1s4 biogenesis of lysosomal organelles complex-1, subunit 4, cappuccino IAGP MouseDO NCBI chr 5:36,904,718...36,906,023
Ensembl chr 5:36,904,722...36,905,994 		JBrowse link
G Bloc1s5 biogenesis of lysosomal organelles complex-1, subunit 5, muted IAGP
ISO		 ClinVar Annotator: match by term: Hermansky-Pudlak syndrome MouseDO
ClinVar		 PMID:32565547 NCBI chr13:38,786,674...38,821,093
Ensembl chr13:38,776,818...38,819,085 		JBrowse link
G Bloc1s6 biogenesis of lysosomal organelles complex-1, subunit 6, pallidin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome		 CTD
ClinVar		 PMID:10610180 PMID:21665000 PMID:22461475 PMID:25741868 PMID:26575419 More... NCBI chr 2:122,580,425...122,591,407
Ensembl chr 2:122,580,423...122,591,395 		JBrowse link
G Ccl5 C-C motif chemokine ligand 5 ISO protein:increased secretion:lung, alveolar macrophage (human) RGD PMID:19729668 RGD:4891476 NCBI chr11:83,416,604...83,421,344
Ensembl chr11:83,416,604...83,421,344 		JBrowse link
G Cp ceruloplasmin ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome ClinVar PMID:11590544 PMID:16199547 PMID:18414213 PMID:24033266 PMID:25741868 More... NCBI chr 3:20,011,097...20,063,914
Ensembl chr 3:20,011,218...20,063,309 		JBrowse link
G Cxcr4 C-X-C motif chemokine receptor 4 disease_progression ISO RGD PMID:25347450 RGD:11352293 NCBI chr 1:128,515,936...128,520,036
Ensembl chr 1:128,515,936...128,520,030 		JBrowse link
G Dtnbp1 dystrobrevin binding protein 1 IAGP
ISO		 DNA:deletion:intron, exon
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:24033266 PMID:28492532 PMID:12923531 RGD:11251756 NCBI chr13:45,075,552...45,155,614
Ensembl chr13:45,075,551...45,155,623 		JBrowse link
G Hps1 HPS1, biogenesis of lysosomal organelles complex 3 subunit 1 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome ClinVar PMID:8274781 PMID:8896559 PMID:9345105 PMID:9497254 PMID:9536098 More... NCBI chr19:42,743,629...42,770,013
Ensembl chr19:42,743,544...42,768,417 		JBrowse link
G Hps3 HPS3, biogenesis of lysosomal organelles complex 2 subunit 1 ISO DNA:deletion:
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:11590544 PMID:16199547 PMID:17933573 PMID:18414213 PMID:24033266 More... RGD:1599538 NCBI chr 3:20,050,109...20,089,478
Ensembl chr 3:20,050,109...20,089,479 		JBrowse link
G Hps4 HPS4, biogenesis of lysosomal organelles complex 3 subunit 2 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome
CTD Direct Evidence: marker/mechanism
DNA:nonsense,frameshift,insertion mutations:cds:
DNA:nonsense mutation:exon: c.541C>T(p.Q181X) (rs119471022)		 ClinVar
CTD
RGD		 PMID:12664304 PMID:24033266 PMID:25741868 PMID:26575419 PMID:28492532 More... RGD:1599546, RGD:11354897, RGD:11353873 NCBI chr 5:112,490,849...112,526,290
Ensembl chr 5:112,490,949...112,526,280 		JBrowse link
G Hps5 HPS5, biogenesis of lysosomal organelles complex 2 subunit 2 ISO DNA:mutations:multiple:
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:12548288 PMID:15296495 PMID:16199547 PMID:21833017 PMID:23607980 More... RGD:11072072 NCBI chr 7:46,409,890...46,445,501
Ensembl chr 7:46,409,890...46,445,488 		JBrowse link
G Hps6 HPS6, biogenesis of lysosomal organelles complex 2 subunit 3 ISO DNA:mutations:multiple:
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:12548288 PMID:17041891 PMID:19843503 PMID:24033266 PMID:25741868 More... RGD:11073544 NCBI chr19:45,991,917...45,994,612
Ensembl chr19:45,991,947...45,994,612 		JBrowse link
G Kxd1 KxDL motif containing 1 IAGP MouseDO NCBI chr 8:70,966,046...70,975,830
Ensembl chr 8:70,960,922...70,980,606 		JBrowse link
G Rab38 RAB38, member RAS oncogene family ISO RGD PMID:19897744 RGD:2324690 NCBI chr 7:88,079,481...88,140,780
Ensembl chr 7:88,079,481...88,140,780 		JBrowse link
G Rabggta Rab geranylgeranyl transferase, a subunit IAGP MouseDO NCBI chr14:55,953,321...55,959,720
Ensembl chr14:55,952,873...55,959,720 		JBrowse link
G Slc7a11 solute carrier family 7 (cationic amino acid transporter, y+ system), member 11 IAGP MouseDO NCBI chr 3:50,319,385...50,403,947
Ensembl chr 3:49,846,975...50,398,063 		JBrowse link
G Vps33a VPS33A CORVET/HOPS core subunit IAGP MouseDO NCBI chr 5:123,666,820...123,711,104
Ensembl chr 5:123,666,722...123,711,101 		JBrowse link
Hermansky-Pudlak syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap3b1 adaptor-related protein complex 3, beta 1 subunit ISO ClinVar Annotator: match by term: Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells ClinVar PMID:25741868 PMID:28492532 NCBI chr13:94,492,332...94,702,838
Ensembl chr13:94,495,468...94,702,825 		JBrowse link
G Ap3d1 adaptor-related protein complex 3, delta 1 subunit IAGP OMIM:203300 MouseDO NCBI chr10:80,542,790...80,578,137
Ensembl chr10:80,542,790...80,578,098 		JBrowse link
G Bloc1s6 biogenesis of lysosomal organelles complex-1, subunit 6, pallidin ISO ClinVar Annotator: match by term: Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells ClinVar PMID:25741868 PMID:28492532 PMID:33543539 NCBI chr 2:122,580,425...122,591,407
Ensembl chr 2:122,580,423...122,591,395 		JBrowse link
G Cp ceruloplasmin ISO ClinVar Annotator: match by term: Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:20,011,097...20,063,914
Ensembl chr 3:20,011,218...20,063,309 		JBrowse link
G Hps1 HPS1, biogenesis of lysosomal organelles complex 3 subunit 1 ISO
IAGP		 DNA:duplication:exon
ClinVar Annotator: match by term: HPS1-related condition | ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 1
CTD Direct Evidence: marker/mechanism
OMIM:203300		 ClinVar
CTD
MouseDO
OMIM
RGD		 PMID:8274781 PMID:8896559 PMID:9345105 PMID:9497254 PMID:9536098 More... RGD:1625056 NCBI chr19:42,743,629...42,770,013
Ensembl chr19:42,743,544...42,768,417 		JBrowse link
G Hps3 HPS3, biogenesis of lysosomal organelles complex 2 subunit 1 ISO ClinVar Annotator: match by term: Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells ClinVar PMID:11590544 PMID:25741868 PMID:28492532 PMID:31898847 NCBI chr 3:20,050,109...20,089,478
Ensembl chr 3:20,050,109...20,089,479 		JBrowse link
G Rab27a RAB27A, member RAS oncogene family IAGP OMIM:203300 MouseDO NCBI chr 9:72,952,092...73,004,905
Ensembl chr 9:72,952,136...73,004,911 		JBrowse link
Hermansky-Pudlak Syndrome 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap3d1 adaptor-related protein complex 3, delta 1 subunit ISO ClinVar Annotator: match by term: AP3D1-related condition | ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 10 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:26744459 PMID:28492532 More... NCBI chr10:80,542,790...80,578,137
Ensembl chr10:80,542,790...80,578,098 		JBrowse link
Hermansky-Pudlak Syndrome 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bloc1s5 biogenesis of lysosomal organelles complex-1, subunit 5, muted ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 11 OMIM
ClinVar		 PMID:25741868 PMID:32565547 NCBI chr13:38,786,674...38,821,093
Ensembl chr13:38,776,818...38,819,085 		JBrowse link
Hermansky-Pudlak syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aggf1 angiogenic factor with G patch and FHA domains 1 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 ClinVar PMID:16507770 PMID:23403622 PMID:28492532 NCBI chr13:95,487,191...95,511,865
Ensembl chr13:95,487,191...95,511,860 		JBrowse link
G Ap3b1 adaptor-related protein complex 3, beta 1 subunit ISO
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2
OMIM:608233		 OMIM
CTD
ClinVar
MouseDO		 PMID:8042664 PMID:9536098 PMID:10024875 PMID:11809908 PMID:14566336 More... NCBI chr13:94,492,332...94,702,838
Ensembl chr13:94,495,468...94,702,825 		JBrowse link
G Ap3d1 adaptor-related protein complex 3, delta 1 subunit IAGP
ISO		 OMIM:608233
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2		 MouseDO
ClinVar		 PMID:28492532 NCBI chr10:80,542,790...80,578,137
Ensembl chr10:80,542,790...80,578,098 		JBrowse link
G Arsb arylsulfatase B ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 ClinVar PMID:16507770 PMID:23403622 PMID:28492532 NCBI chr13:93,908,187...94,079,524
Ensembl chr13:93,908,138...94,079,524 		JBrowse link
G Crhbp corticotropin releasing hormone binding protein ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 ClinVar PMID:16507770 PMID:23403622 PMID:28492532 NCBI chr13:95,567,884...95,581,339
Ensembl chr13:95,567,879...95,581,432 		JBrowse link
G F2rl1 F2R like trypsin receptor 1 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 ClinVar PMID:16507770 PMID:23403622 PMID:28492532 NCBI chr13:95,648,226...95,661,748
Ensembl chr13:95,648,240...95,661,735 		JBrowse link
G Hps3 HPS3, biogenesis of lysosomal organelles complex 2 subunit 1 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 ClinVar PMID:11590544 PMID:25741868 PMID:28492532 PMID:31898847 PMID:32581362 NCBI chr 3:20,050,109...20,089,478
Ensembl chr 3:20,050,109...20,089,479 		JBrowse link
G Lhfpl2 lipoma HMGIC fusion partner-like 2 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 ClinVar PMID:16507770 PMID:23403622 PMID:28492532 NCBI chr13:94,193,659...94,331,918
Ensembl chr13:94,194,304...94,331,917 		JBrowse link
G Otp orthopedia homeobox ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 ClinVar PMID:16507770 PMID:23403622 PMID:28492532 NCBI chr13:95,012,144...95,021,633
Ensembl chr13:95,012,110...95,021,638 		JBrowse link
G Pde8b phosphodiesterase 8B ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 ClinVar PMID:16507770 PMID:23403622 PMID:28492532 NCBI chr13:95,160,962...95,386,904
Ensembl chr13:95,160,962...95,386,844 		JBrowse link
G S100z S100 calcium binding protein, zeta ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 ClinVar PMID:16507770 PMID:23403622 PMID:28492532 NCBI chr13:95,613,809...95,615,163
Ensembl chr13:95,613,776...95,615,229 		JBrowse link
G Scamp1 secretory carrier membrane protein 1 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 ClinVar PMID:16507770 PMID:23403622 PMID:28492532 NCBI chr13:94,337,818...94,422,339
Ensembl chr13:94,337,818...94,422,365 		JBrowse link
G Tbca tubulin cofactor A ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 ClinVar PMID:16507770 PMID:23403622 PMID:28492532 NCBI chr13:94,925,428...94,979,431
Ensembl chr13:94,925,418...94,979,430 		JBrowse link
G Wdr41 WD repeat domain 41 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 ClinVar PMID:16507770 PMID:23403622 PMID:28492532 NCBI chr13:95,112,226...95,161,800
Ensembl chr13:95,112,852...95,159,821 		JBrowse link
G Zbed3 zinc finger, BED type containing 3 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 ClinVar PMID:16507770 PMID:23403622 PMID:28492532 NCBI chr13:95,460,113...95,474,350
Ensembl chr13:95,460,120...95,474,349 		JBrowse link
Hermansky-Pudlak syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cp ceruloplasmin ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 3 ClinVar PMID:11590544 PMID:16199547 PMID:24033266 PMID:25741868 PMID:28492532 More... NCBI chr 3:20,011,097...20,063,914
Ensembl chr 3:20,011,218...20,063,309 		JBrowse link
G Hps3 HPS3, biogenesis of lysosomal organelles complex 2 subunit 1 ISO
IAGP		 ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 3
OMIM:614072
DNA:splice-site mutation:intron:1303+1G>A (human)		 OMIM
ClinVar
MouseDO
RGD		 PMID:9536098 PMID:11455388 PMID:11590544 PMID:16199547 PMID:17576681 More... RGD:11041885 NCBI chr 3:20,050,109...20,089,478
Ensembl chr 3:20,050,109...20,089,479 		JBrowse link
Hermansky-Pudlak syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hps1 HPS1, biogenesis of lysosomal organelles complex 3 subunit 1 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome with pulmonary fibrosis ClinVar PMID:12442288 PMID:16185271 PMID:25741868 PMID:28492532 NCBI chr19:42,743,629...42,770,013
Ensembl chr19:42,743,544...42,768,417 		JBrowse link
G Hps4 HPS4, biogenesis of lysosomal organelles complex 3 subunit 2 ISO
IAGP		 ClinVar Annotator: match by term: HPS4-related condition | ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 4
OMIM:614073		 OMIM
ClinVar
MouseDO		 PMID:11836498 PMID:12664304 PMID:15108212 PMID:16199547 PMID:20158590 More... NCBI chr 5:112,490,849...112,526,290
Ensembl chr 5:112,490,949...112,526,280 		JBrowse link
Hermansky-Pudlak syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hps5 HPS5, biogenesis of lysosomal organelles complex 2 subunit 2 ISO
IAGP		 ClinVar Annotator: match by term: HPS5-related condition | ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 5
OMIM:614074		 OMIM
ClinVar
MouseDO		 PMID:12548288 PMID:15296495 PMID:16199547 PMID:21833017 PMID:22995991 More... NCBI chr 7:46,409,890...46,445,501
Ensembl chr 7:46,409,890...46,445,488 		JBrowse link
Hermansky-Pudlak syndrome 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hps6 HPS6, biogenesis of lysosomal organelles complex 2 subunit 3 ISO
IAGP		 ClinVar Annotator: match by term: HPS6-related condition | ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 6
OMIM:614075		 OMIM
ClinVar
MouseDO		 PMID:12548288 PMID:17041891 PMID:19843503 PMID:20158590 PMID:24033266 More... NCBI chr19:45,991,917...45,994,612
Ensembl chr19:45,991,947...45,994,612 		JBrowse link
Hermansky-Pudlak syndrome 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dtnbp1 dystrobrevin binding protein 1 ISO
IAGP		 ClinVar Annotator: match by term: DTNBP1-related condition | ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 7
OMIM:614076		 OMIM
ClinVar
MouseDO		 PMID:12923531 PMID:23364359 PMID:24033266 PMID:25741868 PMID:28259707 More... NCBI chr13:45,075,552...45,155,614
Ensembl chr13:45,075,551...45,155,623 		JBrowse link
Hermansky-Pudlak syndrome 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bloc1s3 biogenesis of lysosomal organelles complex-1, subunit 3 ISO
IAGP		 ClinVar Annotator: match by term: BLOC1S3-related condition | ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 8
OMIM:614077		 OMIM
ClinVar
MouseDO		 PMID:16385460 PMID:22709368 PMID:24033266 PMID:25741868 PMID:28492532 More... NCBI chr 7:19,239,708...19,242,295
Ensembl chr 7:19,238,411...19,242,292 		JBrowse link
Hermansky-Pudlak syndrome 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bloc1s6 biogenesis of lysosomal organelles complex-1, subunit 6, pallidin ISO
IAGP		 ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 9
OMIM:614171		 OMIM
ClinVar
MouseDO		 PMID:9536098 PMID:10610180 PMID:16199547 PMID:17576681 PMID:21665000 More... NCBI chr 2:122,580,425...122,591,407
Ensembl chr 2:122,580,423...122,591,395 		JBrowse link
immunodeficiency 71 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arpc1b actin related protein 2/3 complex, subunit 1B ISO ClinVar Annotator: match by term: ARPC1B-related condition | ClinVar Annotator: match by term: Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:25741868 PMID:27965109 More... NCBI chr 5:145,051,066...145,064,996
Ensembl chr 5:145,051,025...145,067,515 		JBrowse link
Isolated Macrothrombocytopenia 2, Autosomal Dominant 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 6:121,187,666...121,209,304
Ensembl chr 6:121,187,655...121,203,813 		JBrowse link
IVIC syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sall4 spalt like transcription factor 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Oculootoradial syndrome | ClinVar Annotator: match by term: SALL4-Related Spectrum Disorders		 OMIM
CTD
ClinVar		 PMID:7395922 PMID:17256792 PMID:25741868 PMID:28492532 NCBI chr 2:168,590,252...168,609,121
Ensembl chr 2:168,590,252...168,609,863 		JBrowse link
Jacobsen Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acad8 acyl-Coenzyme A dehydrogenase family, member 8 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 9:26,885,434...26,910,872
Ensembl chr 9:26,885,431...26,910,862 		JBrowse link
G Acrv1 acrosomal vesicle protein 1 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 9:36,604,550...36,610,139
Ensembl chr 9:36,604,516...36,610,139 		JBrowse link
G Adamts15 ADAM metallopeptidase with thrombospondin type 1 motif 15 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 9:30,810,451...30,833,853
Ensembl chr 9:30,810,451...30,833,748 		JBrowse link
G Adamts8 ADAM metallopeptidase with thrombospondin type 1 motif 8 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 9:30,853,858...30,875,134
Ensembl chr 9:30,853,858...30,875,134 		JBrowse link
G Aplp2 amyloid beta precursor-like protein 2 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 9:31,060,853...31,123,144
Ensembl chr 9:31,060,853...31,123,111 		JBrowse link
G Arhgap32 Rho GTPase activating protein 32 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 9:31,927,921...32,176,061
Ensembl chr 9:32,027,432...32,179,742 		JBrowse link
G B3gat1 beta-1,3-glucuronyltransferase 1 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 9:26,644,813...26,672,646
Ensembl chr 9:26,645,024...26,674,397 		JBrowse link
G Barx2 BarH-like homeobox 2 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 9:31,757,340...31,824,581
Ensembl chr 9:31,757,340...31,824,758 		JBrowse link
G Ccdc15 coiled-coil domain containing 15 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 9:37,178,758...37,262,508
Ensembl chr 9:37,187,131...37,259,728 		JBrowse link
G Cdon cell adhesion molecule-related/down-regulated by oncogenes ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 9:35,332,836...35,418,948
Ensembl chr 9:35,332,424...35,418,948 		JBrowse link
G Chek1 checkpoint kinase 1 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 9:36,619,935...36,637,897
Ensembl chr 9:36,619,778...36,638,361 		JBrowse link
G Dcps decapping enzyme, scavenger ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 9:35,035,710...35,087,283
Ensembl chr 9:35,035,704...35,087,357 		JBrowse link
G Ddx25 DEAD box helicase 25 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 9:35,453,144...35,469,766
Ensembl chr 9:35,447,943...35,469,824 		JBrowse link
G Ei24 etoposide induced 2.4 mRNA ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 9:36,690,449...36,708,630
Ensembl chr 9:36,690,455...36,708,689 		JBrowse link
G Esam endothelial cell-specific adhesion molecule ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 9:37,439,385...37,449,615
Ensembl chr 9:37,439,374...37,449,615 		JBrowse link
G Ets1 E26 avian leukemia oncogene 1, 5' domain ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 9:32,547,501...32,669,116
Ensembl chr 9:32,547,517...32,669,116 		JBrowse link
G Fam118b family with sequence similarity 118, member B ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 9:35,128,261...35,179,172
Ensembl chr 9:35,128,261...35,179,101 		JBrowse link
G Fez1 fasciculation and elongation protein zeta 1 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 9:36,732,694...36,790,220
Ensembl chr 9:36,733,160...36,790,220 		JBrowse link
G Fli1 Friend leukemia integration 1 ISO ClinVar Annotator: match by term: 11q partial monosomy syndrome | ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:25741868 PMID:28255014 PMID:28492532 PMID:31064749 PMID:32581362 NCBI chr 9:32,333,500...32,454,292
Ensembl chr 9:32,333,500...32,454,157 		JBrowse link
G Foxred1 FAD-dependent oxidoreductase domain containing 1 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 9:35,115,504...35,122,499
Ensembl chr 9:35,115,502...35,122,351 		JBrowse link
G Glb1l2 galactosidase, beta 1-like 2 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 9:26,674,338...26,717,769
Ensembl chr 9:26,674,340...26,717,764 		JBrowse link
G Glb1l3 galactosidase, beta 1 like 3 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 9:26,729,249...26,773,394
Ensembl chr 9:26,729,249...26,772,186 		JBrowse link
G Hepacam hepatocyte cell adhesion molecule ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 9:37,278,652...37,297,868
Ensembl chr 9:37,278,647...37,297,871 		JBrowse link
G Hyls1 HYLS1, centriolar and ciliogenesis associated ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 9:35,472,117...35,481,365
Ensembl chr 9:35,472,116...35,481,694 		JBrowse link
G Igsf9b immunoglobulin superfamily, member 9B ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 9:27,210,400...27,268,845
Ensembl chr 9:27,210,500...27,268,842 		JBrowse link
G Jam3 junction adhesion molecule 3 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 9:27,008,680...27,066,739
Ensembl chr 9:27,008,680...27,066,717 		JBrowse link
G Kcnj1 potassium inwardly-rectifying channel, subfamily J, member 1 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 9:32,283,714...32,310,493
Ensembl chr 9:32,283,789...32,310,493 		JBrowse link
G Kcnj5 potassium inwardly-rectifying channel, subfamily J, member 5 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 9:32,226,002...32,255,640
Ensembl chr 9:32,226,003...32,255,646 		JBrowse link
G Kirrel3 kirre like nephrin family adhesion molecule 3 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 9:34,396,850...34,952,103
Ensembl chr 9:34,397,190...34,948,012 		JBrowse link
G Msantd2 Myb/SANT-like DNA-binding domain containing 2 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 9:37,397,034...37,437,409
Ensembl chr 9:37,400,317...37,435,921 		JBrowse link
G Ncapd3 non-SMC condensin II complex, subunit D3 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 9:26,941,455...27,008,667
Ensembl chr 9:26,941,471...27,006,611 		JBrowse link
G Nfrkb nuclear factor related to kappa B binding protein ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 9:31,297,476...31,332,629
Ensembl chr 9:31,297,488...31,332,629 		JBrowse link
G Nrgn neurogranin ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 9:37,455,789...37,464,041
Ensembl chr 9:37,455,788...37,464,200 		JBrowse link
G Ntm neurotrimin ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 9:28,906,045...29,874,565
Ensembl chr 9:28,906,046...29,874,437 		JBrowse link
G Opcml opioid binding protein/cell adhesion molecule-like ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 9:27,702,050...28,836,706
Ensembl chr 9:27,702,071...28,836,706 		JBrowse link
G Or8a1b olfactory receptor family 8 subfamily A member 1B ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 9:37,622,644...37,623,576
Ensembl chr 9:37,620,260...37,627,546 		JBrowse link
G Or8b12 olfactory receptor family 8 subfamily B member 12 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 9:37,656,596...37,658,402
Ensembl chr 9:37,656,402...37,659,890 		JBrowse link
G Or8b3 olfactory receptor family 8 subfamily B member 3 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 9:38,313,007...38,315,125
Ensembl chr 9:38,312,994...38,319,293 		JBrowse link
G Or8b4 olfactory receptor family 8 subfamily B member 4 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 9:37,829,844...37,830,908
Ensembl chr 9:37,829,136...37,833,770 		JBrowse link
G Or8b8 olfactory receptor family 8 subfamily B member 8 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 9:37,801,863...37,809,634
Ensembl chr 9:37,808,020...37,814,815 		JBrowse link
G Panx3 pannexin 3 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 9:37,571,198...37,580,518
Ensembl chr 9:37,571,198...37,580,531 		JBrowse link
G Pate1 prostate and testis expressed 1 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 9:35,596,182...35,598,686
Ensembl chr 9:35,596,375...35,598,686 		JBrowse link
G Pate2 prostate and testis expressed 2 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 9:35,580,935...35,584,185
Ensembl chr 9:35,481,580...35,601,614 		JBrowse link
G Pate3 prostate and testis expressed 3 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 9:35,556,409...35,559,499
Ensembl chr 9:35,556,409...35,559,498 		JBrowse link
G Pate4 prostate and testis expressed 4 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 9:35,518,387...35,523,164
Ensembl chr 9:35,518,389...35,523,237 		JBrowse link
G Pknox2 Pbx/knotted 1 homeobox 2 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 9:36,802,278...37,058,637
Ensembl chr 9:36,802,278...37,058,703 		JBrowse link
G Prdm10 PR domain containing 10 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 9:31,187,406...31,293,027
Ensembl chr 9:31,191,834...31,293,019 		JBrowse link
G Pus3 pseudouridine synthase 3 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 9:35,469,856...35,478,697
Ensembl chr 9:35,469,891...35,478,697 		JBrowse link
G Robo3 roundabout guidance receptor 3 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 9:37,327,341...37,344,730
Ensembl chr 9:37,326,965...37,344,542 		JBrowse link
G Robo4 roundabout guidance receptor 4 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 9:37,313,198...37,325,319
Ensembl chr 9:37,313,193...37,326,411 		JBrowse link
G Rpusd4 RNA pseudouridylate synthase domain containing 4 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 9:35,179,177...35,187,253
Ensembl chr 9:35,179,161...35,189,027 		JBrowse link
G Siae sialic acid acetylesterase ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 9:37,525,117...37,559,554
Ensembl chr 9:37,466,994...37,560,951 		JBrowse link
G Slc37a2 solute carrier family 37 (glycerol-3-phosphate transporter), member 2 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 9:37,140,445...37,166,709
Ensembl chr 9:37,138,881...37,167,034 		JBrowse link
G Snx19 sorting nexin 19 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 9:30,338,284...30,378,437
Ensembl chr 9:30,338,404...30,378,029 		JBrowse link
G Spa17 sperm autoantigenic protein 17 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 9:37,514,590...37,525,018
Ensembl chr 9:37,514,586...37,525,018 		JBrowse link
G Spata19 spermatogenesis associated 19 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 9:27,308,103...27,313,007
Ensembl chr 9:27,308,096...27,313,081 		JBrowse link
G Srpra signal recognition particle receptor alpha ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 9:35,122,499...35,128,299
Ensembl chr 9:35,111,471...35,159,269 		JBrowse link
G St14 suppression of tumorigenicity 14 (colon carcinoma) ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 9:30,999,886...31,043,138
Ensembl chr 9:31,000,698...31,043,149 		JBrowse link
G St3gal4 ST3 beta-galactoside alpha-2,3-sialyltransferase 4 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 9:34,957,872...35,028,160
Ensembl chr 9:34,957,872...35,030,564 		JBrowse link
G Stt3a STT3, subunit of the oligosaccharyltransferase complex, homolog A (S. cerevisiae) ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 9:36,640,640...36,678,918
Ensembl chr 9:36,640,640...36,678,975 		JBrowse link
G Tbrg1 transforming growth factor beta regulated gene 1 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 9:37,560,478...37,568,608
Ensembl chr 9:37,560,059...37,568,608 		JBrowse link
G Thyn1 thymocyte nuclear protein 1 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 9:26,910,950...26,918,632
Ensembl chr 9:26,911,006...26,918,632 		JBrowse link
G Tirap toll-interleukin 1 receptor (TIR) domain-containing adaptor protein ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 9:35,095,687...35,111,587
Ensembl chr 9:35,095,847...35,111,587 		JBrowse link
G Tmem218 transmembrane protein 218 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 9:37,119,519...37,134,524
Ensembl chr 9:37,119,519...37,135,996 		JBrowse link
G Tmem45b transmembrane protein 45b ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 9:31,336,445...31,375,534
Ensembl chr 9:31,337,492...31,375,758 		JBrowse link
G Vps26b VPS26 retromer complex component B ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 9:26,915,798...26,941,390
Ensembl chr 9:26,919,067...26,941,361 		JBrowse link
G Vsig2 V-set and immunoglobulin domain containing 2 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 9:37,450,551...37,455,501
Ensembl chr 9:37,450,551...37,455,501 		JBrowse link
G Zbtb44 zinc finger and BTB domain containing 44 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 9:30,941,016...30,987,181
Ensembl chr 9:30,941,940...30,987,181 		JBrowse link
juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smad4 SMAD family member 4 ISO ClinVar Annotator: match by term: JP/HHT SYNDROME | ClinVar Annotator: match by term: JUVENILE POLYPOSIS WITH HEREDITARY HEMORRHAGIC TELANGIECTASIA | ClinVar Annotator: match by term: Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome | ClinVar Annotator: match by term: TELANGIECTASIA, HEREDITARY HEMORRHAGIC, WITH JUVENILE POLYPOSIS COLI
CTD Direct Evidence: marker/mechanism
DNA:mutations:exon:multiple
DNA:frameshift mutations, missense mutations, nonsense mutation: :multiple		 OMIM
ClinVar
CTD
RGD		 PMID:6604412 PMID:8898652 PMID:9214508 PMID:9285566 PMID:9536098 More... RGD:11062720, RGD:11070199 NCBI chr18:73,767,861...73,836,862
Ensembl chr18:73,772,080...73,836,851 		JBrowse link
Kaposiform Hemangioendothelioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgf2 fibroblast growth factor 2 ISO RGD PMID:14517397 RGD:8655667 NCBI chr 3:37,402,616...37,464,255
Ensembl chr 3:37,402,495...37,464,257 		JBrowse link
G Gna14 guanine nucleotide binding protein, alpha 14 ISO ClinVar Annotator: match by term: Kaposiform hemangioendothelioma ClinVar PMID:25741868 PMID:27476652 NCBI chr19:16,413,031...16,590,706
Ensembl chr19:16,413,126...16,588,184 		JBrowse link
lymphoplasmacytic lymphoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cxcr4 C-X-C motif chemokine receptor 4 disease_progression ISO DNA:mutation:cds:1013C>G(p.S338X)(human) RGD PMID:24711662 RGD:11352304 NCBI chr 1:128,515,936...128,520,036
Ensembl chr 1:128,515,936...128,520,030 		JBrowse link
G Fcgr4 Fc receptor, IgG, low affinity IV disease_progression
treatment		 ISO DNA:polymorphism: :
DNA:SNP:exon:p.F158V (rs396991) (human)		 RGD PMID:21564078 PMID:15659493 RGD:11040774, RGD:11352262 NCBI chr 1:170,846,495...170,857,330
Ensembl chr 1:170,846,489...170,857,330 		JBrowse link
G Gpx3 glutathione peroxidase 3 ISO protein:increased expression:bone marrow RGD PMID:32763516 RGD:401827827 NCBI chr11:54,793,680...54,801,213
Ensembl chr11:54,793,279...54,801,203 		JBrowse link
G Il10 interleukin 10 ISO DNA:SNPs: :multiple RGD PMID:19573080 RGD:11049165 NCBI chr 1:130,947,459...130,952,707
Ensembl chr 1:130,947,582...130,952,711 		JBrowse link
G Il6 interleukin 6 no_association ISO DNA:SNPs: :rs6952003, rs7801617, rs10156056 (human)
DNA:SNPs: :multiple		 RGD PMID:19573080 PMID:19573080 RGD:11049165, RGD:11049165 NCBI chr 5:30,218,112...30,224,973
Ensembl chr 5:30,218,112...30,224,979 		JBrowse link
G Irf4 interferon regulatory factor 4 ISO RGD PMID:23355206 RGD:11530052 NCBI chr13:30,933,191...30,950,965
Ensembl chr13:30,933,209...30,950,959 		JBrowse link
G Myd88 myeloid differentiation primary response gene 88 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Macroglobulinemia, Waldenstrom, somatic		 CTD
ClinVar
OMIM		 PMID:21179087 PMID:22931316 PMID:23215570 PMID:23355535 PMID:26619011 More... NCBI chr 9:119,165,000...119,169,084
Ensembl chr 9:119,165,000...119,170,477 		JBrowse link
multiple myeloma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcg2 ATP binding cassette subfamily G member 2 (Junior blood group) treatment ISO RGD PMID:26314844 PMID:16917002 RGD:11081075, RGD:11081144 NCBI chr 6:58,561,476...58,669,436
Ensembl chr 6:58,561,508...58,672,661 		JBrowse link
G Ace angiotensin I converting enzyme ISO protein:increased activity:serum RGD PMID:22345095 RGD:11038914 NCBI chr11:105,858,774...105,880,790
Ensembl chr11:105,858,771...105,880,790 		JBrowse link
G Alb albumin disease_progression ISO RGD PMID:17096887 RGD:11035276 NCBI chr 5:90,608,729...90,624,461
Ensembl chr 5:90,608,756...90,624,461 		JBrowse link
G Alkbh5 alkB homolog 5, RNA demethylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:35038059 NCBI chr11:60,428,509...60,449,338
Ensembl chr11:60,427,207...60,449,338 		JBrowse link
G Apoe apolipoprotein E treatment ISO RGD PMID:22348216 RGD:11040544 NCBI chr 7:19,430,169...19,434,326
Ensembl chr 7:19,430,034...19,433,113 		JBrowse link
G Arid4a AT-rich interaction domain 4A ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr12:71,061,314...71,146,125
Ensembl chr12:71,062,764...71,145,366 		JBrowse link
G Atm ataxia telangiectasia mutated ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 9:53,348,422...53,448,125
Ensembl chr 9:53,350,449...53,448,040 		JBrowse link
G Aurka aurora kinase A ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 2:172,198,116...172,212,825
Ensembl chr 2:172,198,110...172,212,455 		JBrowse link
G B2m beta-2 microglobulin ISO ClinVar Annotator: match by term: Myelomatosis
protein:increased expression:serum		 ClinVar
RGD		 PMID:26619011 PMID:32856850 RGD:329955356 NCBI chr 2:121,978,168...121,983,563
Ensembl chr 2:121,978,167...121,983,564 		JBrowse link
G Bap1 Brca1 associated protein 1 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr14:30,973,358...30,981,887
Ensembl chr14:30,973,407...30,981,901 		JBrowse link
G Bard1 BRCA1 associated RING domain 1 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 1:71,066,694...71,142,300
Ensembl chr 1:71,066,657...71,142,305 		JBrowse link
G Bcl2 B cell leukemia/lymphoma 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12429644 NCBI chr 1:106,465,906...106,642,020
Ensembl chr 1:106,465,908...106,642,004 		JBrowse link
G Bcl2l1 BCL2-like 1 IMP
ISO		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:12429644 PMID:14656874 RGD:11353847 NCBI chr 2:152,600,652...152,673,632
Ensembl chr 2:152,622,588...152,673,648 		JBrowse link
G Bcl2l10 Bcl2-like 10 ISO protein:increased expression:bone marrow : RGD PMID:27455953 RGD:14392808 NCBI chr 9:75,255,040...75,258,922
Ensembl chr 9:75,255,040...75,258,931 		JBrowse link
G Bcorl1 BCL6 co-repressor-like 1 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr  X:47,430,235...47,496,945
Ensembl chr  X:47,430,235...47,496,926 		JBrowse link
G Bnip3 BCL2/adenovirus E1B interacting protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18172295 NCBI chr 7:138,492,565...138,511,235
Ensembl chr 7:138,492,565...138,511,248 		JBrowse link
G Braf Braf transforming gene ISO ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Myelomatosis ClinVar PMID:2493360 PMID:12068308 PMID:12198537 PMID:12447372 PMID:12460918 More... NCBI chr 6:39,580,171...39,702,592
Ensembl chr 6:39,580,171...39,702,397 		JBrowse link
G Btg1 BTG anti-proliferation factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16918137 NCBI chr10:96,452,863...96,458,675
Ensembl chr10:96,452,868...96,458,671 		JBrowse link
G Cbl Casitas B-lineage lymphoma ISO mRNA:decreased expression:mononuclear cell: RGD PMID:23948411 RGD:11038794 NCBI chr 9:44,054,273...44,145,556
Ensembl chr 9:44,054,273...44,145,346 		JBrowse link
G Cbx7 chromobox 7 susceptibility ISO DNA:snp:intron:c.113+3502C>T (human) (rs877529)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:23955597 PMID:23955597 RGD:11352716 NCBI chr15:79,800,005...79,855,344
Ensembl chr15:79,800,008...79,855,320 		JBrowse link
G Ccl2 C-C motif chemokine ligand 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16918137 NCBI chr11:81,926,403...81,928,278
Ensembl chr11:81,926,397...81,928,279 		JBrowse link
G Ccn1 cellular communication network factor 1 exacerbates ISO mRNA, protein:increased expression:bone marrow (human)
mRNA,protein:increased expression:bone marrow (human)		 RGD PMID:28035364 PMID:25061178 RGD:329845528, RGD:329845546 NCBI chr 3:145,352,726...145,355,740
Ensembl chr 3:145,352,731...145,355,736 		JBrowse link
G Ccnd1 cyclin D1 susceptibility ISO DNA:snp:exon:c.870G>A (rs603965) (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: MULTIPLE MYELOMA, t(11;14) TYPE, SUSCEPTIBILITY TO		 CTD
ClinVar
OMIM
RGD		 PMID:10667569 PMID:11459873 PMID:12097293 PMID:23502783 PMID:24870244 More... RGD:1581171, RGD:11353784 NCBI chr 7:144,483,668...144,493,568
Ensembl chr 7:144,483,668...144,493,662 		JBrowse link
G Ccnd2 cyclin D2 ISO RGD PMID:15755896 RGD:1581171 NCBI chr 6:127,102,125...127,131,913
Ensembl chr 6:127,102,125...127,129,156 		JBrowse link
G Ccnd3 cyclin D3 ISO RGD PMID:15755896 RGD:1581171 NCBI chr17:47,815,976...47,910,614
Ensembl chr17:47,815,976...47,910,616 		JBrowse link
G Cd40 CD40 antigen treatment ISO human cells in a mouse model RGD PMID:10866315 RGD:11522720 NCBI chr 2:164,897,535...164,913,574
Ensembl chr 2:164,897,547...164,914,868 		JBrowse link
G Cd40lg CD40 ligand treatment
disease_progression		 IMP
ISO		 protein:increased expression:serum (human) RGD PMID:15565183 PMID:22403003 PMID:27243341 RGD:11352240, RGD:11352251, RGD:11352268 NCBI chr  X:56,257,448...56,269,402
Ensembl chr  X:56,257,503...56,269,402 		JBrowse link
G Cd46 CD46 antigen, complement regulatory protein ISO protein:increased expression:plasma cell (human) RGD PMID:16728275 RGD:11352814 NCBI chr 1:194,721,279...194,781,149
Ensembl chr 1:194,719,134...194,774,557 		JBrowse link
G Cd86 CD86 antigen severity ISO protein:increased expression:bone marrow, plasma cell (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:16611307 PMID:22705596 RGD:11354971 NCBI chr16:36,389,318...36,486,439
Ensembl chr16:36,424,231...36,486,443 		JBrowse link
G Cdk4 cyclin dependent kinase 4 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar PMID:5377176 PMID:7652577 PMID:8528263 PMID:8968104 PMID:9228064 More... NCBI chr10:126,899,404...126,903,157
Ensembl chr10:126,899,403...126,903,789 		JBrowse link
G Cdkn2a cyclin dependent kinase inhibitor 2A disease_progression ISO DNA:hypermethylation::
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:16008847 PMID:12681979 RGD:11252185 NCBI chr 4:89,192,710...89,212,856
Ensembl chr 4:89,192,708...89,212,890 		JBrowse link
G Cdkn2c cyclin dependent kinase inhibitor 2C ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 4:109,518,073...109,523,953
Ensembl chr 4:109,518,073...109,524,386 		JBrowse link
G Cfhr1 complement factor H-related 1 treatment ISO RGD PMID:22348216 RGD:11040544 NCBI chr 1:139,474,802...139,487,960
Ensembl chr 1:139,474,791...139,488,010 		JBrowse link
G Chi3l1 chitinase 3 like 1 severity ISO protein:increased secretion:serum (human) RGD PMID:16930142 RGD:4892645 NCBI chr 1:134,109,894...134,117,769
Ensembl chr 1:134,109,914...134,117,919 		JBrowse link
G Crbn cereblon ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Multiple myeloma		 CTD
ClinVar		 PMID:26186254 NCBI chr 6:106,755,205...106,777,060
Ensembl chr 6:106,757,162...106,777,038 		JBrowse link
G Crebbp CREB binding protein ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr16:3,899,198...4,031,864
Ensembl chr16:3,899,192...4,031,861 		JBrowse link
G Csf2 colony stimulating factor 2 (granulocyte-macrophage) ISO CTD Direct Evidence: therapeutic CTD PMID:7540856 PMID:8104070 PMID:8555506 NCBI chr11:54,138,096...54,140,725
Ensembl chr11:54,138,097...54,140,493 		JBrowse link
G Csf3 colony stimulating factor 3 (granulocyte) ISO CTD Direct Evidence: therapeutic CTD PMID:7534716 PMID:7540856 NCBI chr11:98,591,287...98,594,457
Ensembl chr11:98,592,089...98,594,455 		JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 susceptibility ISO DNA:microsatellite polymorphism:exon: : RGD PMID:11167807 RGD:11352247 NCBI chr 1:60,948,184...60,954,991
Ensembl chr 1:60,926,159...60,954,991 		JBrowse link
G Cyld CYLD lysine 63 deubiquitinase ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 8:89,423,506...89,478,574
Ensembl chr 8:89,423,675...89,478,573 		JBrowse link
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 susceptibility ISO DNA:polymorphisms:3'UTR,cds:3801T>C,12455A>G(human) RGD PMID:18285692 RGD:11352726 NCBI chr 9:57,595,211...57,611,107
Ensembl chr 9:57,595,211...57,611,107 		JBrowse link
G Cyp2c38 cytochrome P450, family 2, subfamily c, polypeptide 38 no_association
treatment		 ISO DNA:polymorphisms: : RGD PMID:17666363 PMID:20684753 RGD:11352748 RGD:11352804 NCBI chr19:39,379,109...39,451,519
Ensembl chr19:39,378,000...39,451,519 		JBrowse link
G Cyp2c66 cytochrome P450, family 2, subfamily c, polypeptide 66 treatment
no_association		 ISO DNA:polymorphisms: : RGD PMID:17666363 PMID:20684753 RGD:11352748, RGD:11352804 NCBI chr19:39,102,342...39,175,200
Ensembl chr19:39,102,342...39,175,516 		JBrowse link
G Cyp2d22 cytochrome P450, family 2, subfamily d, polypeptide 22 no_association ISO DNA:polymorphisms: : RGD PMID:20684753 RGD:11352804 NCBI chr15:82,254,728...82,264,461
Ensembl chr15:82,254,728...82,264,461 		JBrowse link
G Dis3 DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr14:99,314,070...99,337,217
Ensembl chr14:99,312,642...99,337,206 		JBrowse link
G Dnmt3a DNA methyltransferase 3A ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr12:3,851,559...3,964,442
Ensembl chr12:3,856,007...3,964,443 		JBrowse link
G Dsg2 desmoglein 2 disease_progression ISO RGD PMID:34245117 RGD:401851080 NCBI chr18:20,691,247...20,737,583
Ensembl chr18:20,691,131...20,737,578 		JBrowse link
G Eif1ax eukaryotic translation initiation factor 1A, X-linked ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr  X:158,155,174...158,172,617
Ensembl chr  X:158,155,174...158,172,924 		JBrowse link
G Eng endoglin severity ISO protein:increased expression:serum: RGD PMID:23576184 RGD:11041181 NCBI chr 2:32,536,607...32,572,681
Ensembl chr 2:32,536,607...32,572,681 		JBrowse link
G Ephx1 epoxide hydrolase 1, microsomal no_association
susceptibility		 ISO DNA:SNPs:exon:p.Y113H (rs1051740), p.H139R (rs2234922) (human)
DNA:SNP:exon:rs2234922 (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:16949155 PMID:19736056 PMID:16949155 PMID:24521996 RGD:11252116, RGD:11252121, RGD:11252122 NCBI chr 1:180,817,121...180,845,134
Ensembl chr 1:180,803,775...180,848,469 		JBrowse link
G Ercc1 excision repair cross-complementing rodent repair deficiency, complementation group 1 treatment ISO DNA:SNP: :rs735482 (human) RGD PMID:21435719 RGD:10450871 NCBI chr 7:19,079,016...19,090,449
Ensembl chr 7:19,078,703...19,090,449 		JBrowse link
G Ercc2 excision repair cross-complementing rodent repair deficiency, complementation group 2 disease_progression
sexual_dimorphism 		ISO DNA:polymorphism: :p.K751Q (rs13181) (human)
DNA:SNP:exon 23:p.K751Q (rs1052559)(Human)		 RGD PMID:22183071 PMID:17131345 RGD:11252199, RGD:401827277 NCBI chr 7:19,115,942...19,129,619
Ensembl chr 7:19,115,935...19,129,619 		JBrowse link
G Erf Ets2 repressor factor ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 7:24,941,985...24,950,522
Ensembl chr 7:24,941,986...24,950,186 		JBrowse link
G Fasl Fas ligand disease_progression ISO RGD PMID:16321857 RGD:11049149 NCBI chr 1:161,608,260...161,616,064
Ensembl chr 1:161,608,258...161,616,064 		JBrowse link
G Fat1 FAT atypical cadherin 1 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 8:45,386,137...45,505,294
Ensembl chr 8:45,388,484...45,505,294 		JBrowse link
G Fcgr3 Fc receptor, IgG, low affinity III disease_progression
susceptibility		 ISO DNA:polymorphism: :rs1801274(human) RGD PMID:25850245 PMID:17315188 RGD:11040778, RGD:11040938 NCBI chr 1:170,878,738...170,893,477
Ensembl chr 1:170,878,743...170,892,504 		JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Myelomatosis		 CTD
ClinVar		 PMID:1908846 PMID:7773297 PMID:8599935 PMID:8640234 PMID:8754806 More... NCBI chr 5:33,879,068...33,894,412
Ensembl chr 5:33,879,018...33,894,412 		JBrowse link
G Fgg fibrinogen gamma chain treatment ISO RGD PMID:22348216 RGD:11040544 NCBI chr 3:82,915,031...82,922,363
Ensembl chr 3:82,915,031...82,922,356 		JBrowse link
G Flt3 FMS-like tyrosine kinase 3 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 5:147,267,551...147,337,299
Ensembl chr 5:147,267,551...147,337,299 		JBrowse link
G Flt3l FMS-like tyrosine kinase 3 ligand disease_progression ISO protein:increased expression:serum: RGD PMID:26521986 RGD:11075232 NCBI chr 7:44,780,607...44,785,914
Ensembl chr 7:44,779,212...44,785,856 		JBrowse link
G Fto FTO alpha-ketoglutarate dependent dioxygenase ISO mRNA:increased expression:bone marrow RGD PMID:34274946 RGD:329901767 NCBI chr 8:92,039,995...92,395,061
Ensembl chr 8:92,040,153...92,395,067 		JBrowse link
G Gpx1 glutathione peroxidase 1 ISO RGD PMID:8599825 RGD:11352777 NCBI chr 9:108,216,279...108,217,541
Ensembl chr 9:108,216,102...108,217,542 		JBrowse link
G Gpx3 glutathione peroxidase 3 disease_progression ISO DNA:hypermethylation: : RGD PMID:23699600 RGD:11073605 NCBI chr11:54,793,680...54,801,213
Ensembl chr11:54,793,279...54,801,203 		JBrowse link
G Gstm1 glutathione S-transferase, mu 1 severity
no_association		 ISO RGD PMID:17653713 PMID:15136237 RGD:10450826, RGD:10450846 NCBI chr 3:107,919,566...107,925,289
Ensembl chr 3:107,919,571...107,925,289 		JBrowse link
G Gstp1 glutathione S-transferase, pi 1 disease_progression
no_association
treatment		 ISO DNA:polymorphism:cds:p.I105V(human)
DNA:polymorphism: :		 RGD PMID:23953887 PMID:18061666 PMID:17512053 RGD:10755413, RGD:10755419, RGD:11075094 NCBI chr19:4,085,411...4,087,912
Ensembl chr19:4,085,407...4,087,985 		JBrowse link
G Gstt1 glutathione S-transferase, theta 1 susceptibility
no_association		 ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:16949155 PMID:15136237 PMID:12624497 RGD:10450846, RGD:10450847 NCBI chr10:75,619,647...75,634,418
Ensembl chr10:75,619,647...75,634,418 		JBrowse link
G H19 H19, imprinted maternally expressed transcript severity ISO RNA:decrased expression:blood serum (human) RGD PMID:29470951 RGD:156430335 NCBI chr 7:142,129,267...142,131,883
Ensembl chr 7:142,129,262...142,131,917 		JBrowse link
G H1f4 H1.4 linker histone, cluster member ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr13:23,805,760...23,806,541
Ensembl chr13:23,804,612...23,806,541 		JBrowse link
G H2-Q1 histocompatibility 2, Q region locus 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17283154 NCBI chr17:35,539,503...35,547,118
Ensembl chr17:35,539,381...35,544,075 		JBrowse link
G H2ac8 H2A clustered histone 8 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr13:23,754,837...23,755,394
Ensembl chr13:23,754,691...23,755,394 		JBrowse link
G H3c1 H3 clustered histone 1 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr13:23,945,868...23,946,369
Ensembl chr13:23,945,836...23,946,369 		JBrowse link
G Hdac4 histone deacetylase 4 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 1:91,856,501...92,123,424
Ensembl chr 1:91,856,501...92,123,421 		JBrowse link
G Hfe homeostatic iron regulator susceptibility ISO DNA:missense mutation, haplotype:cds:p.C282Y (human) RGD PMID:10383894 RGD:8694350 NCBI chr13:23,886,017...23,894,837
Ensembl chr13:23,886,017...23,894,837 		JBrowse link
G Hk1 hexokinase 1 ISO RGD PMID:19996089 RGD:11353882 NCBI chr10:62,104,634...62,215,699
Ensembl chr10:62,104,634...62,215,687 		JBrowse link
G Hras Harvey rat sarcoma virus oncogene ISO ClinVar Annotator: match by term: Myelomatosis
ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Myelomatosis		 ClinVar PMID:11150980 PMID:12835555 PMID:16155195 PMID:16170316 PMID:16329078 More... NCBI chr 7:140,770,839...140,773,938
Ensembl chr 7:140,769,018...140,773,918 		JBrowse link
G Hspb1 heat shock protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12855565 NCBI chr 5:135,916,773...135,918,417
Ensembl chr 5:135,916,773...135,918,417 		JBrowse link
G Icam1 intercellular adhesion molecule 1 treatment ISO protein:increased expression:serum: RGD PMID:7834632 PMID:7686390 RGD:11354981, RGD:11520780 NCBI chr 9:20,927,236...20,940,110
Ensembl chr 9:20,927,281...20,940,113 		JBrowse link
G Idh1 isocitrate dehydrogenase 1 (NADP+), soluble ISO ClinVar Annotator: match by term: Myelomatosis ClinVar PMID:18772396 PMID:19657110 PMID:19798509 PMID:19818334 PMID:20946881 More... NCBI chr 1:65,197,775...65,225,638
Ensembl chr 1:65,197,775...65,225,659 		JBrowse link
G Idh2 isocitrate dehydrogenase 2 (NADP+), mitochondrial ISO ClinVar Annotator: match by term: Myelomatosis ClinVar PMID:20171147 PMID:20847235 PMID:20946881 PMID:21647154 PMID:21889589 More... NCBI chr 7:79,744,594...79,768,356
Ensembl chr 7:79,744,594...79,765,140 		JBrowse link
G Igf2r insulin-like growth factor 2 receptor ISO protein:increased expression:serum,urine: RGD PMID:29940770 RGD:14985218 NCBI chr17:12,901,293...12,988,593
Ensembl chr17:12,901,293...12,988,551 		JBrowse link
G Il10 interleukin 10 disease_progression ISO DNA:SNP, polymorphisms:promoter:-1082G>A, (human)
protein:increased expression:serum		 RGD PMID:11307152 PMID:11022130 RGD:11041888, RGD:11049458 NCBI chr 1:130,947,459...130,952,707
Ensembl chr 1:130,947,582...130,952,711 		JBrowse link
G Il1a interleukin 1 alpha ISO
IMP		 DNA:SNP:promoter:-511C>T (human)
DNA:SNP:promoter:-889C>T (human)		 RGD PMID:25469832 PMID:17926179 PMID:1777241 RGD:11049156, RGD:11051973, RGD:11059513 NCBI chr 2:129,141,530...129,151,892
Ensembl chr 2:129,141,530...129,151,892 		JBrowse link
G Il1b interleukin 1 beta ISO DNA:SNPs:promoter, exon:-511C>T, 3954T>C (human) RGD PMID:17926179 RGD:11051973 NCBI chr 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059 		JBrowse link
G Il1rn interleukin 1 receptor antagonist no_association ISO DNA:snp: :11100C>T (human)
DNA:repeats:intron:		 RGD PMID:17926179 PMID:10848780 RGD:11051973, RGD:11522764 NCBI chr 2:24,226,872...24,241,503
Ensembl chr 2:24,226,865...24,241,506 		JBrowse link
G Il4ra interleukin 4 receptor, alpha susceptibility ISO DNA:SNP: :-228120T>C(rs2107356)(human) RGD PMID:17315188 RGD:11040938 NCBI chr 7:125,151,443...125,178,646
Ensembl chr 7:125,151,292...125,178,646 		JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8520508 PMID:12855565 PMID:19330649 NCBI chr 5:30,218,112...30,224,973
Ensembl chr 5:30,218,112...30,224,979 		JBrowse link
G Il7r interleukin 7 receptor ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr15:9,505,880...9,530,270
Ensembl chr15:9,505,874...9,530,262 		JBrowse link
G Irf4 interferon regulatory factor 4 disease_progression
treatment		 ISO DNA:translocation
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:18568025 PMID:10557056 PMID:17690696 PMID:21707574 RGD:11526161, RGD:11530019, RGD:11530055 NCBI chr13:30,933,191...30,950,965
Ensembl chr13:30,933,209...30,950,959 		JBrowse link
G Irf8 interferon regulatory factor 8 ISO DNA:hypermethylation RGD PMID:23114132 RGD:329902071 NCBI chr 8:121,463,097...121,483,433
Ensembl chr 8:121,463,097...121,483,433 		JBrowse link
G Kdm5c lysine demethylase 5C ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr  X:151,015,698...151,062,098
Ensembl chr  X:151,016,016...151,057,531 		JBrowse link
G Kmt2c lysine (K)-specific methyltransferase 2C ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 5:25,476,793...25,703,853
Ensembl chr 5:25,476,796...25,703,781 		JBrowse link
G Kmt2d lysine (K)-specific methyltransferase 2D ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar PMID:22126750 PMID:24633898 PMID:25326635 PMID:25741868 PMID:27530205 More... NCBI chr15:98,729,550...98,771,958
Ensembl chr15:98,729,550...98,769,085 		JBrowse link
G Kras Kirsten rat sarcoma viral oncogene homolog ISO ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Myelomatosis ClinVar
RGD		 PMID:2278970 PMID:3122217 PMID:12460918 PMID:15696205 PMID:16361624 More... RGD:1581756 NCBI chr 6:145,162,425...145,197,631
Ensembl chr 6:145,162,425...145,195,965 		JBrowse link
G Lats1 large tumor suppressor ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr10:7,556,964...7,592,225
Ensembl chr10:7,556,978...7,592,224 		JBrowse link
G Lig4 ligase IV, DNA, ATP-dependent ISO DNA:polymorphisms
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Multiple myeloma, resistance to | ClinVar Annotator: match by term: Myelomatosis		 OMIM
CTD
ClinVar
RGD		 PMID:11779494 PMID:12471202 PMID:15333585 PMID:16088910 PMID:24033266 More... RGD:1600305 NCBI chr 8:10,020,020...10,027,680
Ensembl chr 8:10,019,049...10,027,686 		JBrowse link
G Lrrc56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Myelomatosis ClinVar PMID:11150980 PMID:12835555 PMID:16155195 PMID:16170316 PMID:16329078 More... NCBI chr 7:140,774,024...140,789,968
Ensembl chr 7:140,774,070...140,789,968 		JBrowse link
G Maf MAF bZIP transcription factor IAGP OMIM:254500 MouseDO NCBI chr 8:116,429,992...116,433,633
Ensembl chr 8:116,409,681...116,434,533 		JBrowse link
G Mcl1 myeloid cell leukemia sequence 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12429644 NCBI chr 3:95,564,017...95,583,553
Ensembl chr 3:95,566,099...95,570,487 		JBrowse link
G Mefv Mediterranean fever susceptibility ISO DNA:polymorphisms:cds:p.E148Q,M694V(human) RGD PMID:25202401 RGD:11531123 NCBI chr16:3,524,838...3,536,073
Ensembl chr16:3,525,082...3,535,961 		JBrowse link
G Met met proto-oncogene ISO RGD PMID:11830493 RGD:2317526 NCBI chr 6:17,463,351...17,573,979
Ensembl chr 6:17,463,799...17,573,979 		JBrowse link
G Mettl14 methyltransferase 14, N6-adenosine-methyltransferase subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:35038059 NCBI chr 3:123,161,944...123,179,639
Ensembl chr 3:123,161,946...123,179,757 		JBrowse link
G Mettl3 methyltransferase 3, N6-adenosine-methyltransferase complex catalytic subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:35038059 NCBI chr14:52,532,298...52,548,555
Ensembl chr14:52,532,298...52,542,585 		JBrowse link
G Mga MAX gene associated ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 2:119,702,974...119,800,610
Ensembl chr 2:119,727,709...119,800,062 		JBrowse link
G Mir155 microRNA 155 disease_progression ISO miRNA:decreased expression:serum RGD PMID:25497370 PMID:28446295 RGD:21079441, RGD:24922226 NCBI chr16:84,511,028...84,511,092
Ensembl chr16:84,511,028...84,511,092 		JBrowse link
G Mir17 microRNA 17 disease_progression ISO miRNA:increased expression:plasma cell RGD PMID:23718138 RGD:329337383 NCBI chr14:115,281,103...115,281,186
Ensembl chr14:115,281,103...115,281,186 		JBrowse link
G Mir19a microRNA 19a ISO CTD Direct Evidence: marker/mechanism CTD PMID:29687521 NCBI chr14:115,281,432...115,281,513
Ensembl chr14:115,281,432...115,281,513 		JBrowse link
G Mir27a microRNA 27a ISO CTD Direct Evidence: marker/mechanism CTD PMID:35038059 NCBI chr 8:84,935,301...84,935,387
Ensembl chr 8:84,935,301...84,935,387 		JBrowse link
G Mir320 microRNA 320 ameliorates ISO human gene in mouse model RGD PMID:27086852 RGD:155882577 NCBI chr14:70,680,950...70,681,031
Ensembl chr14:70,680,950...70,681,031 		JBrowse link
G Mir92-1 microRNA 92-1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29687521 NCBI chr14:115,281,859...115,281,938
Ensembl chr14:115,281,859...115,281,938 		JBrowse link
G Mst1r macrophage stimulating 1 receptor (c-met-related tyrosine kinase) ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 9:107,784,057...107,797,582
Ensembl chr 9:107,784,072...107,797,582 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO DNA:missense mutations:cds:677C>T, 1298A>C (human) RGD PMID:24839819 RGD:10449397 NCBI chr 4:148,123,534...148,144,019
Ensembl chr 4:148,123,534...148,144,008 		JBrowse link
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase susceptibility ISO DNA:polymorphism: :2756A>G(human) RGD PMID:17655928 RGD:11075095 NCBI chr13:12,196,217...12,273,090
Ensembl chr13:12,197,598...12,272,999 		JBrowse link
G Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase susceptibility ISO DNA:polymorphism: :66G>A(human) RGD PMID:17655928 RGD:11075095 NCBI chr13:68,708,897...68,730,273
Ensembl chr13:68,708,899...68,730,268 		JBrowse link
G Muc1 mucin 1, transmembrane ISO CTD Direct Evidence: marker/mechanism CTD PMID:9949172 NCBI chr 3:89,136,363...89,140,688
Ensembl chr 3:89,136,364...89,140,688 		JBrowse link
G Myd88 myeloid differentiation primary response gene 88 ISO ClinVar Annotator: match by term: Myelomatosis ClinVar PMID:21179087 PMID:22931316 PMID:23215570 PMID:23355535 PMID:26619011 More... NCBI chr 9:119,165,000...119,169,084
Ensembl chr 9:119,165,000...119,170,477 		JBrowse link
G Ncor2 nuclear receptor co-repressor 2 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 5:125,094,217...125,256,302
Ensembl chr 5:125,094,217...125,256,283 		JBrowse link
G Nf1 neurofibromin 1 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr11:79,223,541...79,472,435
Ensembl chr11:79,230,519...79,472,438 		JBrowse link
G Nfkbia nuclear factor of kappa light polypeptide gene enhancer in B cells inhibitor, alpha ISO RGD PMID:16540234 PMID:12377412 RGD:2298898, RGD:2298895 NCBI chr12:55,536,194...55,539,432
Ensembl chr12:55,536,195...55,539,432 		JBrowse link
G Nkx2-1 NK2 homeobox 1 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr12:56,578,741...56,583,570
Ensembl chr12:56,578,743...56,583,693 		JBrowse link
G Nono non-POU-domain-containing, octamer binding protein exacerbates ISO mRNA:increased expression: (human) RGD PMID:32410217 RGD:155900765 NCBI chr  X:100,473,295...100,492,193
Ensembl chr  X:100,472,924...100,492,197 		JBrowse link
G Notch2 notch 2 ISO protein:increased expression:bone marrow (human) RGD PMID:14726396 RGD:1580763 NCBI chr 3:97,920,854...98,057,683
Ensembl chr 3:97,920,843...98,057,677 		JBrowse link
G Nox1 NADPH oxidase 1 ISO protein:increased expression:serum RGD PMID:32856850 RGD:329955356 NCBI chr  X:132,987,170...133,038,455
Ensembl chr  X:132,987,170...133,122,705 		JBrowse link
G Nqo1 NAD(P)H dehydrogenase, quinone 1 no_association ISO DNA:missense mutation:cds:p.P187S (human)
DNA:missense mutation:cds:p.P187S (609C>T) (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:16949155 PMID:18156703 PMID:18061666 RGD:10769348, RGD:10755419 NCBI chr 8:108,114,856...108,139,012
Ensembl chr 8:108,114,857...108,129,838 		JBrowse link
G Nras neuroblastoma ras oncogene treatment ISO DNA:mutation: :
ClinVar Annotator: match by term: Myelomatosis		 ClinVar
RGD		 PMID:1654209 PMID:2278970 PMID:2407301 PMID:2674680 PMID:2989702 More... RGD:11535049 NCBI chr 3:102,965,643...102,975,230
Ensembl chr 3:102,965,601...102,975,230 		JBrowse link
G Nuak1 NUAK family, SNF1-like kinase, 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26873845 NCBI chr10:84,206,764...84,282,028
Ensembl chr10:84,206,769...84,276,461 		JBrowse link
G Parp1 poly (ADP-ribose) polymerase family, member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21917757 NCBI chr 1:180,396,456...180,428,564
Ensembl chr 1:180,396,489...180,428,819 		JBrowse link
G Pf4 platelet factor 4 ameliorates ISO RGD PMID:21693026 RGD:329901828 NCBI chr 5:90,920,362...90,921,242
Ensembl chr 5:90,920,294...90,921,242 		JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO ClinVar Annotator: match by term: Myelomatosis ClinVar PMID:17376864 PMID:18074223 PMID:20581867 PMID:25741868 PMID:26619011 More... NCBI chr 3:32,451,203...32,520,256
Ensembl chr 3:32,451,820...32,522,635 		JBrowse link
G Pik3r2 phosphoinositide-3-kinase regulatory subunit 2 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 8:71,220,820...71,229,356
Ensembl chr 8:71,220,820...71,229,357 		JBrowse link
G Pml promyelocytic leukemia severity ISO protein:increased expression:bone marrow (human) RGD PMID:22906876 RGD:41404686 NCBI chr 9:58,125,359...58,157,077
Ensembl chr 9:58,125,359...58,157,069 		JBrowse link
G Polr1g RNA polymerase I subunit G sexual_dimorphism ISO DNA:SNP:exon 1: p.G-21A (rs967591) (human) RGD PMID:17131345 RGD:401827277 NCBI chr 7:19,089,932...19,093,408
Ensembl chr 7:19,089,939...19,093,408 		JBrowse link
G Pon1 paraoxonase 1 severity
treatment
susceptibility		 ISO protein:decreased activity:serum (human)
DNA:missense mutation:cds:p.Q192R (human)		 RGD PMID:25520116 PMID:22348216 PMID:15136237 RGD:11552578, RGD:11040544, RGD:10450846 NCBI chr 6:5,168,101...5,193,824
Ensembl chr 6:5,168,090...5,193,946 		JBrowse link
G Pramex1 PRAME like, X-linked 1 severity ISO associated with bortezomib treatment;mRNA:increased expression:bone marrow (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:16179254 PMID:24791872 RGD:11535030 NCBI chr  X:134,513,662...134,528,437
Ensembl chr  X:134,513,751...134,528,454 		JBrowse link
G Prmt5 protein arginine N-methyltransferase 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29158558 NCBI chr14:54,744,639...54,754,927
Ensembl chr14:54,744,644...54,754,982 		JBrowse link
G Psors1c2 psoriasis susceptibility 1 candidate 2 (human) ISO CTD Direct Evidence: marker/mechanism CTD PMID:23955597 NCBI chr17:35,842,462...35,845,544
Ensembl chr17:35,844,098...35,845,544 		JBrowse link
G Pthlh parathyroid hormone-like peptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:11054717 NCBI chr 6:147,153,607...147,165,511
Ensembl chr 6:147,153,599...147,165,681 		JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO ClinVar Annotator: match by term: Myelomatosis ClinVar PMID:11704759 PMID:12634870 PMID:12717436 PMID:14644997 PMID:14974085 More... NCBI chr 5:121,268,596...121,329,460
Ensembl chr 5:121,268,596...121,329,460 		JBrowse link
G Ranbp2 RAN binding protein 2 ISO mRNA:increased expression:bone marrow, plasma cell (human) RGD PMID:19171422 RGD:9835349 NCBI chr10:58,282,674...58,329,977
Ensembl chr10:58,282,742...58,330,178 		JBrowse link
G Rbbp8 retinoblastoma binding protein 8, endonuclease exacerbates ISO mRNA:increased expression:bone marrow, plasma cell (human) RGD PMID:30622325 RGD:401940173 NCBI chr18:11,766,333...11,876,264
Ensembl chr18:11,766,333...11,878,278 		JBrowse link
G Rbp1 retinol binding protein 1, cellular disease_progression ISO DNA:hypermethylation: : RGD PMID:23699600 RGD:11073605 NCBI chr 9:98,305,014...98,328,604
Ensembl chr 9:98,305,014...98,328,628 		JBrowse link
G Recql4 RecQ protein-like 4 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar PMID:28492532 NCBI chr15:76,587,753...76,594,820
Ensembl chr15:76,587,753...76,594,748 		JBrowse link
G Robo1 roundabout guidance receptor 1 ameliorates ISO RGD PMID:34268498 RGD:243048419 NCBI chr16:71,824,406...72,844,379
Ensembl chr16:72,105,194...72,842,983 		JBrowse link
G Runx1 runt related transcription factor 1 ISO mRNA:splice variant RGD PMID:12560229 RGD:6482834 NCBI chr16:92,398,354...92,622,962
Ensembl chr16:92,398,354...92,623,037 		JBrowse link
G Rxra retinoid X receptor alpha ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 2:27,566,457...27,653,331
Ensembl chr 2:27,566,452...27,652,969 		JBrowse link
G Samhd1 SAM domain and HD domain, 1 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 2:156,939,454...156,977,016
Ensembl chr 2:156,939,453...156,977,185 		JBrowse link
G Sgk1 serum/glucocorticoid regulated kinase 1 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr10:21,758,083...21,875,802
Ensembl chr10:21,758,083...21,875,802 		JBrowse link
G Sh2b3 SH2B adaptor protein 3 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 5:121,953,544...121,975,706
Ensembl chr 5:121,953,551...121,975,709 		JBrowse link
G Sod2 superoxide dismutase 2, mitochondrial ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:15908783 PMID:15908783 RGD:1581238 NCBI chr17:13,226,726...13,237,006
Ensembl chr17:13,225,733...13,258,950 		JBrowse link
G Sparc secreted acidic cysteine rich glycoprotein disease_progression ISO CTD Direct Evidence: marker/mechanism
DNA:hypermethylation: :		 CTD
RGD		 PMID:18172295 PMID:23699600 RGD:11073605 NCBI chr11:55,284,985...55,310,906
Ensembl chr11:55,285,326...55,314,009 		JBrowse link
G Spp1 secreted phosphoprotein 1 ISO RGD PMID:16208410 RGD:1581367 NCBI chr 5:104,582,977...104,588,919
Ensembl chr 5:104,582,984...104,588,916 		JBrowse link
G Tas2r103 taste receptor, type 2, member 103 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 6:133,013,126...133,014,064
Ensembl chr 6:133,013,126...133,014,064 		JBrowse link
G Tcf3 transcription factor 3 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr10:80,245,375...80,269,814
Ensembl chr10:80,245,348...80,269,481 		JBrowse link
G Tert telomerase reverse transcriptase ISO RGD PMID:11237381 RGD:11038665 NCBI chr13:73,775,030...73,797,962
Ensembl chr13:73,775,030...73,797,962 		JBrowse link
G Tet2 tet methylcytosine dioxygenase 2 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 3:133,169,438...133,250,882
Ensembl chr 3:133,169,440...133,250,900 		JBrowse link
G Tet3 tet methylcytosine dioxygenase 3 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 6:83,339,355...83,434,190
Ensembl chr 6:83,339,355...83,436,066 		JBrowse link
G Tfrc transferrin receptor treatment ISO RGD PMID:21654517 RGD:11062101 NCBI chr16:32,427,714...32,451,612
Ensembl chr16:32,427,738...32,451,612 		JBrowse link
G Tgfb1 transforming growth factor, beta 1 disease_progression ISO DNA:hypermethylation: :
protein:decreased expression:serum:		 RGD PMID:23699600 PMID:22560388 RGD:11073605, RGD:11073614 NCBI chr 7:25,386,406...25,404,503
Ensembl chr 7:25,386,427...25,404,502 		JBrowse link
G Tnf tumor necrosis factor treatment
no_association		 ISO DNA:SNP:promoter:-238G>A (human)
DNA:SNP:promoter:-308G>A (human)		 RGD PMID:12200397 PMID:12815949 RGD:10449450, RGD:10449453 NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983 		JBrowse link
G Tnfrsf10b tumor necrosis factor receptor superfamily, member 10b treatment ISO RGD PMID:16531263 RGD:11038719 NCBI chr14:70,004,921...70,021,860
Ensembl chr14:70,004,921...70,021,860 		JBrowse link
G Tnfrsf13b tumor necrosis factor receptor superfamily, member 13b ISO CTD Direct Evidence: marker/mechanism CTD PMID:23955597 NCBI chr11:61,017,567...61,040,435
Ensembl chr11:61,017,581...61,040,198 		JBrowse link
G Tnfrsf17 tumor necrosis factor receptor superfamily, member 17 ISO RGD PMID:15692072 RGD:2317306 NCBI chr16:11,131,131...11,137,938
Ensembl chr16:11,131,676...11,137,938 		JBrowse link
G Tnfsf8 tumor necrosis factor (ligand) superfamily, member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9058727 NCBI chr 4:63,749,439...63,779,745
Ensembl chr 4:63,749,545...63,779,584 		JBrowse link
G Trnt1 tRNA nucleotidyl transferase, CCA-adding, 1 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 6:106,746,099...106,759,435
Ensembl chr 6:106,746,081...106,759,435 		JBrowse link
G Trp53 transformation related protein 53 disease_progression
treatment		 ISO DNA:polymorphism:cds:p.R72P(human)
protein:increased expression:nucleus:
DNA:deletion: :
ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Myelomatosis		 ClinVar
RGD		 PMID:253702 PMID:960674 PMID:1359493 PMID:1565143 PMID:1565144 More... RGD:11073716, RGD:11073728, RGD:11075073 NCBI chr11:69,471,174...69,482,699
Ensembl chr11:69,471,185...69,482,699 		JBrowse link
G Tyms thymidylate synthase treatment
no_association		 ISO DNA:polymorphism: :
DNA:repeats:5'UTR:		 RGD PMID:17512053 PMID:17655928 RGD:11075094, RGD:11075095 NCBI chr 5:30,243,544...30,279,261
Ensembl chr 5:30,263,200...30,278,615 		JBrowse link
G Ulk4 unc-51-like kinase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22120009 NCBI chr 9:120,793,520...121,115,225
Ensembl chr 9:120,784,417...121,106,263 		JBrowse link
G Vegfa vascular endothelial growth factor A susceptibility ISO DNA:SNPs,haplotypes: :rs699947,rs1570360, rs2010963(human) RGD PMID:24687381 RGD:11079182 NCBI chr17:46,327,919...46,343,303
Ensembl chr17:46,327,919...46,343,295 		JBrowse link
G Xdh xanthine dehydrogenase ISO protein:increased expression:serum RGD PMID:32856850 RGD:329955356 NCBI chr17:74,190,890...74,257,191
Ensembl chr17:74,190,890...74,257,191 		JBrowse link
G Xpo5 exportin 5 severity ISO DNA:snp:3' utr:c.*659A>C (rs11077) (human) RGD PMID:22539802 RGD:11041735 NCBI chr17:46,513,737...46,554,524
Ensembl chr17:46,513,708...46,554,524 		JBrowse link
G Xrcc3 X-ray repair complementing defective repair in Chinese hamster cells 3 disease_progression ISO DNA:SNP,haplotype:: p.T241M (rs861535) (Human) RGD PMID:17131345 RGD:401827277 NCBI chr12:111,769,626...111,780,326
Ensembl chr12:111,769,626...111,780,307 		JBrowse link
G Xrcc4 X-ray repair complementing defective repair in Chinese hamster cells 4 susceptibility ISO DNA:SNPs:multiple (human) RGD PMID:17901044 RGD:8698655 NCBI chr13:89,997,033...90,237,727
Ensembl chr13:89,922,146...90,237,727 		JBrowse link
G Xrcc5 X-ray repair complementing defective repair in Chinese hamster cells 5 susceptibility ISO DNA:SNP:3'-UTR (human) RGD PMID:17901044 RGD:8698655 NCBI chr 1:72,346,576...72,434,112
Ensembl chr 1:72,346,586...72,434,111 		JBrowse link
G Yap1 yes-associated protein 1 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 9:7,932,000...8,004,890
Ensembl chr 9:7,932,000...8,004,597 		JBrowse link
G Ythdf1 YTH N6-methyladenosine RNA binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:35038059 NCBI chr 2:180,546,170...180,562,729
Ensembl chr 2:180,546,170...180,562,742 		JBrowse link
G Yy1 YY1 transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:35038059 NCBI chr12:108,758,841...108,786,074
Ensembl chr12:108,758,899...108,786,074 		JBrowse link
MYH-9 related disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myh9 myosin, heavy polypeptide 9, non-muscle ISO
IAGP
IMP		 DNA:missense mutation:exon:p.R702H(human)
ClinVar Annotator: match by term: MYH9-related disorder | ClinVar Annotator: match by term: Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss | ClinVar Annotator: match by term: Sebastian platelet syndrome
CTD Direct Evidence: marker/mechanism
OMIM:153640 | OMIM:153650 | OMIM:155100 | OMIM:605249
DNA:mutation:cds:p.R702C(mouse)
DNA:mutation:exon:p.E1841K(human)
DNA:missense mutations:exons:multiple		 ClinVar
CTD
MouseDO
OMIM
RGD		 PMID:1449176 PMID:5011389 PMID:8280620 PMID:9390828 PMID:9536098 More... RGD:6902926, RGD:11533924, RGD:11532766, RGD:6903235 NCBI chr15:77,644,788...77,726,315
Ensembl chr15:77,644,787...77,726,375 		JBrowse link
G Tubb1 tubulin, beta 1 class VI ISO ClinVar Annotator: match by term: Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss ClinVar PMID:25741868 NCBI chr 2:174,292,388...174,300,173
Ensembl chr 2:174,292,488...174,299,675 		JBrowse link
Neonatal Alloimmune Thrombocytopenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Itga2 integrin alpha 2 ISO ClinVar Annotator: match by term: Fetal and neonatal alloimmune thrombocytopenia ClinVar PMID:23368983 PMID:25741868 NCBI chr13:114,969,617...115,068,588
Ensembl chr13:114,969,617...115,068,636 		JBrowse link
G Itga2b integrin alpha 2b ISO ClinVar Annotator: match by term: BAK PLATELET-SPECIFIC ANTIGEN ClinVar PMID:2014236 PMID:25741868 PMID:28492532 NCBI chr11:102,344,134...102,360,570
Ensembl chr11:102,344,123...102,360,948 		JBrowse link
G Itgb3 integrin beta 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Ca/Tu ALLOANTIGEN POLYMORPHISM | ClinVar Annotator: match by term: Fetal and neonatal alloimmune thrombocytopenia | ClinVar Annotator: match by term: Mo ALLOANTIGEN POLYMORPHISM | ClinVar Annotator: match by term: PEN(a)/PEN(b) ALLOANTIGEN POLYMORPHISM		 CTD
ClinVar		 PMID:1430225 PMID:2257303 PMID:7694683 PMID:8093349 PMID:8457479 More... NCBI chr11:104,498,826...104,561,302
Ensembl chr11:104,498,826...104,561,302 		JBrowse link
occipital horn syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp7a ATPase, Cu++ transporting, alpha polypeptide ISO
IAGP		 ClinVar Annotator: match by term: Cutis laxa, X-linked | ClinVar Annotator: match by term: EDS IX | ClinVar Annotator: match by term: Occipital horn syndrome
CTD Direct Evidence: marker/mechanism
DNA:snp:intron:c.2553+3A>C (mouse)
DNA:transversion:intron:g.IVS10+3A>T (human)		 OMIM
ClinVar
CTD
RGD		 PMID:7842019 PMID:8149649 PMID:8981948 PMID:9246006 PMID:10319589 More... RGD:11340205, RGD:11252184 NCBI chr  X:105,070,830...105,171,766
Ensembl chr  X:105,070,882...105,168,532 		JBrowse link
plasma cell leukemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd40 CD40 antigen ISO RGD PMID:20616215 RGD:5490532 NCBI chr 2:164,897,535...164,913,574
Ensembl chr 2:164,897,547...164,914,868 		JBrowse link
G Tert telomerase reverse transcriptase ISO RGD PMID:11237381 RGD:11038665 NCBI chr13:73,775,030...73,797,962
Ensembl chr13:73,775,030...73,797,962 		JBrowse link
Plasminogen Activator Inhibitor-1 Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap1s1 adaptor protein complex AP-1, sigma 1 ISO ClinVar Annotator: match by term: HYPERFIBRINOLYSIS DUE TO PAI1 DEFICIENCY ClinVar PMID:21681106 NCBI chr 5:137,063,852...137,074,917
Ensembl chr 5:137,063,847...137,074,989 		JBrowse link
G Gm7284 predicted gene 7284 ISO ClinVar Annotator: match by term: HYPERFIBRINOLYSIS DUE TO PAI1 DEFICIENCY ClinVar PMID:21681106 NCBI chr 5:137,026,816...137,028,306
Ensembl chr 5:137,026,240...137,028,148 		JBrowse link
G Plod3 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3 ISO ClinVar Annotator: match by term: HYPERFIBRINOLYSIS DUE TO PAI1 DEFICIENCY ClinVar PMID:21681106 NCBI chr 5:137,015,873...137,025,500
Ensembl chr 5:137,015,873...137,025,502 		JBrowse link
G Serpine1 serine (or cysteine) peptidase inhibitor, clade E, member 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: HYPERFIBRINOLYSIS DUE TO PAI1 DEFICIENCY		 OMIM
CTD
ClinVar		 PMID:12856128 PMID:15650551 PMID:17656673 PMID:20549826 PMID:21486382 More... NCBI chr 5:137,090,358...137,101,126
Ensembl chr 5:137,090,358...137,101,122 		JBrowse link
G Trim56 tripartite motif-containing 56 ISO ClinVar Annotator: match by term: HYPERFIBRINOLYSIS DUE TO PAI1 DEFICIENCY ClinVar PMID:21681106 NCBI chr 5:137,140,140...137,145,313
Ensembl chr 5:137,134,498...137,145,063 		JBrowse link
G Vgf VGF nerve growth factor inducible ISO ClinVar Annotator: match by term: HYPERFIBRINOLYSIS DUE TO PAI1 DEFICIENCY ClinVar PMID:21681106 NCBI chr 5:137,054,156...137,062,205
Ensembl chr 5:137,055,246...137,062,205 		JBrowse link
platelet storage pool deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap3b1 adaptor-related protein complex 3, beta 1 subunit IAGP OMIM:185050 MouseDO NCBI chr13:94,492,332...94,702,838
Ensembl chr13:94,495,468...94,702,825 		JBrowse link
G Ap3d1 adaptor-related protein complex 3, delta 1 subunit IAGP OMIM:185050 MouseDO NCBI chr10:80,542,790...80,578,137
Ensembl chr10:80,542,790...80,578,098 		JBrowse link
G Bloc1s5 biogenesis of lysosomal organelles complex-1, subunit 5, muted IAGP OMIM:185050 MouseDO NCBI chr13:38,786,674...38,821,093
Ensembl chr13:38,776,818...38,819,085 		JBrowse link
G Bloc1s6 biogenesis of lysosomal organelles complex-1, subunit 6, pallidin IAGP OMIM:185050 MouseDO NCBI chr 2:122,580,425...122,591,407
Ensembl chr 2:122,580,423...122,591,395 		JBrowse link
G Dock7 dedicator of cytokinesis 7 IAGP OMIM:185050 MouseDO NCBI chr 4:98,824,669...99,019,190
Ensembl chr 4:98,824,908...99,009,152 		JBrowse link
G Dtnbp1 dystrobrevin binding protein 1 IAGP OMIM:185050 MouseDO NCBI chr13:45,075,552...45,155,614
Ensembl chr13:45,075,551...45,155,623 		JBrowse link
G Gfi1b growth factor independent 1B ISO ClinVar Annotator: match by term: Storage pool disease of platelets ClinVar PMID:25741868 NCBI chr 2:28,499,462...28,511,994
Ensembl chr 2:28,499,462...28,511,994 		JBrowse link
G Hps1 HPS1, biogenesis of lysosomal organelles complex 3 subunit 1 IAGP OMIM:185050 MouseDO NCBI chr19:42,743,629...42,770,013
Ensembl chr19:42,743,544...42,768,417 		JBrowse link
G Hps3 HPS3, biogenesis of lysosomal organelles complex 2 subunit 1 IAGP OMIM:185050 MouseDO NCBI chr 3:20,050,109...20,089,478
Ensembl chr 3:20,050,109...20,089,479 		JBrowse link
G Hps4 HPS4, biogenesis of lysosomal organelles complex 3 subunit 2 IAGP OMIM:185050 MouseDO NCBI chr 5:112,490,849...112,526,290
Ensembl chr 5:112,490,949...112,526,280 		JBrowse link
G Hps5 HPS5, biogenesis of lysosomal organelles complex 2 subunit 2 IAGP OMIM:185050 MouseDO NCBI chr 7:46,409,890...46,445,501
Ensembl chr 7:46,409,890...46,445,488 		JBrowse link
G Hps6 HPS6, biogenesis of lysosomal organelles complex 2 subunit 3 ISO ClinVar Annotator: match by term: Storage pool disease of platelets ClinVar PMID:25741868 PMID:28492532 PMID:31064749 NCBI chr19:45,991,917...45,994,612
Ensembl chr19:45,991,947...45,994,612 		JBrowse link
G Lyst lysosomal trafficking regulator IAGP OMIM:185050 MouseDO NCBI chr13:13,764,896...13,953,388
Ensembl chr13:13,764,982...13,953,388 		JBrowse link
G Rab27a RAB27A, member RAS oncogene family IAGP OMIM:185050 MouseDO NCBI chr 9:72,952,092...73,004,905
Ensembl chr 9:72,952,136...73,004,911 		JBrowse link
G Rab27b RAB27B, member RAS oncogene family IAGP OMIM:185050 MouseDO NCBI chr18:70,112,202...70,274,704
Ensembl chr18:70,112,202...70,274,676 		JBrowse link
G Rab38 RAB38, member RAS oncogene family ISO RGD PMID:9250486 RGD:1302447 NCBI chr 7:88,079,481...88,140,780
Ensembl chr 7:88,079,481...88,140,780 		JBrowse link
G Runx1 runt related transcription factor 1 ISO ClinVar Annotator: match by term: Storage pool disease of platelets ClinVar PMID:25741868 PMID:31064749 NCBI chr16:92,398,354...92,622,962
Ensembl chr16:92,398,354...92,623,037 		JBrowse link
G Slc7a11 solute carrier family 7 (cationic amino acid transporter, y+ system), member 11 IAGP OMIM:185050 MouseDO NCBI chr 3:50,319,385...50,403,947
Ensembl chr 3:49,846,975...50,398,063 		JBrowse link
platelet-type bleeding disorder 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd36 CD36 molecule susceptibility IAGP
ISO		 OMIM:608404
ClinVar Annotator: match by term: Platelet-type bleeding disorder 10
CTD Direct Evidence: marker/mechanism		 MouseDO
OMIM
ClinVar
CTD		 PMID:7533783 PMID:7686693 PMID:8696942 PMID:10890433 PMID:10946357 More... NCBI chr 5:17,986,680...18,093,828
Ensembl chr 5:17,986,688...18,093,799 		JBrowse link
G Serpine1 serine (or cysteine) peptidase inhibitor, clade E, member 1 severity ISO RGD PMID:18820218 RGD:13208509 NCBI chr 5:137,090,358...137,101,126
Ensembl chr 5:137,090,358...137,101,122 		JBrowse link
platelet-type bleeding disorder 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gp6 glycoprotein 6 platelet ISO DNA:insertion:exon 6:c.711_712insA (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Platelet-type bleeding disorder 11		 OMIM
CTD
ClinVar
RGD		 PMID:19549989 PMID:19552682 PMID:23815599 PMID:25741868 PMID:28492532 More... RGD:401794132 NCBI chr 7:4,365,852...4,400,849
Ensembl chr 7:4,366,964...4,400,743 		JBrowse link
Platelet-Type Bleeding Disorder 13 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: Impaired thromboxane A2 agonist-induced platelet aggregation ClinVar PMID:32581362 NCBI chr17:84,965,602...84,990,439
Ensembl chr17:84,965,662...84,990,439 		JBrowse link
G Tbxa2r thromboxane A2 receptor susceptibility IMP
ISO		 ClinVar Annotator: match by term: BLEEDING DISORDER, SUSCEPTIBILITY TO, DUE TO DEFECTIVE PLATELET THROMBOXANE A2 RECEPTOR | ClinVar Annotator: match by term: Bleeding disorder, platelet-type, 13, susceptibility to | ClinVar Annotator: match by term: Impaired thromboxane A2 agonist-induced platelet aggregation
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM
RGD		 PMID:2955539 PMID:7929844 PMID:8428006 PMID:8613548 PMID:19828703 More... RGD:11059528 NCBI chr10:81,164,102...81,171,008
Ensembl chr10:81,164,565...81,171,006 		JBrowse link
platelet-type bleeding disorder 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbxas1 thromboxane A synthase 1, platelet ISO ClinVar Annotator: match by term: Bleeding disorder, platelet-type, 14 ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:38,817,897...39,061,524
Ensembl chr 6:38,852,338...39,061,519 		JBrowse link
platelet-type bleeding disorder 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actn1 actinin, alpha 1 ISO ClinVar Annotator: match by term: ACTN1-related condition | ClinVar Annotator: match by term: Platelet-type bleeding disorder 15
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:17576681 PMID:23434115 PMID:24069336 PMID:25361813 More... NCBI chr12:80,214,316...80,307,165
Ensembl chr12:80,214,321...80,307,145 		JBrowse link
G Fli1 Friend leukemia integration 1 ISO ClinVar Annotator: match by term: Bleeding disorder platelet type macrothrombocytopenia ClinVar PMID:23809206 PMID:26316623 NCBI chr 9:32,333,500...32,454,292
Ensembl chr 9:32,333,500...32,454,157 		JBrowse link
platelet-type bleeding disorder 16 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Itga2b integrin alpha 2b ISO
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Platelet-type bleeding disorder 16
OMIM:187800
DNA:mutation:cds:p.G13V(human)
DNA:missense mutation: :p.N2D (97A>G) (human)
DNA:mutations:promoter, exon:multiple		 OMIM
CTD
ClinVar
MouseDO
RGD		 PMID:1638023 PMID:9215749 PMID:9834222 PMID:10607701 PMID:14687991 More... RGD:10766467, RGD:10755470, RGD:10755469, RGD:10755462 NCBI chr11:102,344,134...102,360,570
Ensembl chr11:102,344,123...102,360,948 		JBrowse link
G Itgb3 integrin beta 3 ISO
IAGP		 DNA:missense mutations, deletions, insertion:exon:multiple
ClinVar Annotator: match by term: Platelet-type bleeding disorder 16
OMIM:187800		 ClinVar
MouseDO
RGD		 PMID:1371279 PMID:9351872 PMID:19570064 PMID:19821948 PMID:20106508 More... RGD:10755462, RGD:10755470, RGD:10755466 NCBI chr11:104,498,826...104,561,302
Ensembl chr11:104,498,826...104,561,302 		JBrowse link
platelet-type bleeding disorder 17 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gfi1b growth factor independent 1B ISO ClinVar Annotator: match by term: Platelet-type bleeding disorder 17
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1065298 PMID:5681484 PMID:20861919 PMID:23927492 PMID:24325358 More... NCBI chr 2:28,499,462...28,511,994
Ensembl chr 2:28,499,462...28,511,994 		JBrowse link
platelet-type bleeding disorder 18 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rasgrp2 RAS, guanyl releasing protein 2 ISO ClinVar Annotator: match by term: Platelet-type bleeding disorder 18 | ClinVar Annotator: match by term: RASGRP2-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:24958846 PMID:25741868 PMID:27235135 PMID:27663674 PMID:28492532 More... NCBI chr19:6,449,038...6,465,243
Ensembl chr19:6,449,370...6,465,246 		JBrowse link
platelet-type bleeding disorder 20 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slfn14 schlafen 14 ISO ClinVar Annotator: match by term: Platelet-type bleeding disorder 20 | ClinVar Annotator: match by term: SLFN14-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:25741868 PMID:26280575 PMID:26769223 PMID:28492532 PMID:29678925 More... NCBI chr11:83,165,936...83,177,552
Ensembl chr11:83,165,936...83,177,552 		JBrowse link
Platelet-Type Bleeding Disorder 21 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fli1 Friend leukemia integration 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Bleeding disorder, platelet-type, 21		 OMIM
CTD
ClinVar		 PMID:23809206 PMID:24100448 PMID:25741868 PMID:26316623 PMID:28255014 More... NCBI chr 9:32,333,500...32,454,292
Ensembl chr 9:32,333,500...32,454,157 		JBrowse link
Platelet-Type Bleeding Disorder 22 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ephb2 Eph receptor B2 susceptibility ISO ClinVar Annotator: match by term: Bleeding disorder, platelet-type, 22 ClinVar
OMIM		 PMID:25741868 PMID:30213874 NCBI chr 4:136,374,850...136,563,637
Ensembl chr 4:136,374,850...136,563,299 		JBrowse link
Platelet-Type Bleeding Disorder 24 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Itgb3 integrin beta 3 ISO ClinVar Annotator: match by term: Bleeding disorder, platelet-type, 24 ClinVar
OMIM		 PMID:15583747 PMID:18065693 PMID:19336737 PMID:20081061 PMID:20804530 More... NCBI chr11:104,498,826...104,561,302
Ensembl chr11:104,498,826...104,561,302 		JBrowse link
Platelet-Type Bleeding Disorder 25 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tpm4 tropomyosin 4 ISO ClinVar Annotator: match by term: Bleeding disorder, platelet-type, 25 OMIM
ClinVar		 PMID:28134622 PMID:34758189 PMID:35170221 NCBI chr 8:72,889,132...72,906,986
Ensembl chr 8:72,884,018...72,906,986 		JBrowse link
platelet-type bleeding disorder 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gp1ba glycoprotein 1b, alpha polypeptide susceptibility ISO DNA:deletion
ClinVar Annotator: match by term: BLEEDING DISORDER, PLATELET-TYPE, 3 | ClinVar Annotator: match by term: Platelet-type von Willebrand disease | ClinVar Annotator: match by term: Pseudo von Willebrand disease
CTD Direct Evidence: marker/mechanism
DNA:missense mutation: :p.G233V (human)
DNA:missense mutation: :p.V239M (human)		 OMIM
ClinVar
CTD
RGD		 PMID:2052556 PMID:8384898 PMID:8486780 PMID:12038791 PMID:18492106 More... RGD:10450803, RGD:10450823, RGD:10450814 NCBI chr11:70,529,928...70,534,812
Ensembl chr11:70,529,948...70,532,862 		JBrowse link
platelet-type bleeding disorder 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Med12l mediator complex subunit 12-like ISO ClinVar Annotator: match by term: Impaired ADP-induced platelet aggregation | ClinVar Annotator: match by term: Platelet-type bleeding disorder 8 ClinVar PMID:7706468 PMID:11196645 PMID:12578987 PMID:20966167 PMID:25741868 More... NCBI chr 3:58,912,820...59,225,867
Ensembl chr 3:58,913,246...59,226,103 		JBrowse link
G P2ry12 purinergic receptor P2Y, G-protein coupled 12 ISO
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Impaired ADP-induced platelet aggregation | ClinVar Annotator: match by term: Platelet-type bleeding disorder 8
OMIM:609821		 OMIM
CTD
ClinVar
MouseDO		 PMID:7706468 PMID:11196645 PMID:12578987 PMID:20966167 PMID:25741868 More... NCBI chr 3:59,123,692...59,170,408
Ensembl chr 3:59,123,693...59,170,292 		JBrowse link
platelet-type bleeding disorder 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Itga2 integrin alpha 2 ISO ClinVar Annotator: match by term: COLLAGEN PLATELET RECEPTOR DEFICIENCY | ClinVar Annotator: match by term: Platelet-type bleeding disorder 9 ClinVar PMID:19500323 PMID:22862885 PMID:23368983 PMID:25741868 PMID:28492532 NCBI chr13:114,969,617...115,068,588
Ensembl chr13:114,969,617...115,068,636 		JBrowse link
G Mocs2 molybdenum cofactor synthesis 2 ISO ClinVar Annotator: match by term: COLLAGEN PLATELET RECEPTOR DEFICIENCY | ClinVar Annotator: match by term: Platelet-type bleeding disorder 9 ClinVar NCBI chr13:114,954,707...114,965,960
Ensembl chr13:114,954,772...114,968,811 		JBrowse link
Polymicrogyria with or without Vascular-Type Ehlers-Danlos Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col3a1 collagen, type III, alpha 1 ISO ClinVar Annotator: match by term: Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome | ClinVar Annotator: match by term: Polymicrogyria with or without vascular-type ehlers-danlos syndrome OMIM
ClinVar		 PMID:2049575 PMID:2235526 PMID:7695699 PMID:8218237 PMID:8514866 More... NCBI chr 1:45,350,698...45,388,866
Ensembl chr 1:45,350,698...45,388,866 		JBrowse link
Posttransfusion Purpura term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Itgb3 integrin beta 3 ISO ClinVar Annotator: match by term: PEN(a)/PEN(b) ALLOANTIGEN POLYMORPHISM ClinVar
OMIM		 PMID:1430225 PMID:9787162 PMID:14516468 PMID:21658138 PMID:25741868 More... NCBI chr11:104,498,826...104,561,302
Ensembl chr11:104,498,826...104,561,302 		JBrowse link
prothrombin deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F2 coagulation factor II ISO DNA:missense mutation: :p.R418W (human)
ClinVar Annotator: match by term: Congenital factor II deficiency | ClinVar Annotator: match by term: Factor II deficiency
CTD Direct Evidence: marker/mechanism
DNA:missense mutations, nonsense mutation: :p.R271H, p.R382C, p.Q541X (human)
DNA:missense mutations, deletion, splice-site mutation: :multiple		 ClinVar
CTD
RGD		 PMID:2222810 PMID:2429850 PMID:2825773 PMID:3567158 PMID:6305407 More... RGD:1601108, RGD:10449425, RGD:10449424 NCBI chr 2:91,442,742...91,466,799
Ensembl chr 2:91,455,665...91,466,759 		JBrowse link
G F7 coagulation factor VII ISO protein:decreased expression:plasma (rat) RGD PMID:2810399 RGD:2312318 NCBI chr 8:13,075,499...13,085,809
Ensembl chr 8:13,076,034...13,085,809 		JBrowse link
pseudoxanthoma elasticum term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc1 ATP-binding cassette, sub-family C member 1 ISO ClinVar Annotator: match by term: Gronblad Strandberg syndrome ClinVar PMID:11439001 PMID:16541094 NCBI chr16:14,179,317...14,292,743
Ensembl chr16:14,179,422...14,293,601 		JBrowse link
G Abcc2 ATP-binding cassette, sub-family member 2 ISO ClinVar Annotator: match by term: Gronblad Strandberg syndrome ClinVar PMID:9878557 PMID:15870973 PMID:25741868 PMID:28492532 PMID:29499989 NCBI chr19:43,770,747...43,826,771
Ensembl chr19:43,770,631...43,829,179 		JBrowse link
G Abcc6 ATP-binding cassette, sub-family C member 6 susceptibility
no_association		 ISO
IAGP
IMP		 ClinVar Annotator: match by term: Gronblad Strandberg syndrome | ClinVar Annotator: match by term: Pseudoxanthoma Elasticum, Incomplete | ClinVar Annotator: match by term: Pseudoxanthoma elasticum, forme fruste
OMIM:177850 | OMIM:264800
CTD Direct Evidence: marker/mechanism
DNA:SNPs:promoter:c.-127C>T, c.-132C>T (human)
DNA:mutations:multiple
DNA:nonsense mutation:exon:p.Q378X (1132C>T) (human)
DNA:nonsense mutation:exon:p.R1141X (3421C>T) (human)
DNA:mutations:exon, intron:multiple
DNA:mutations: :multiple		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:9536098 PMID:10811882 PMID:10835642 PMID:10835643 PMID:10954200 More... RGD:737772, RGD:13792593, RGD:11038786, RGD:11038786, RGD:11038785, RGD:11038782, RGD:11038781, RGD:11038779, RGD:11038778, RGD:11038737 NCBI chr 7:45,625,804...45,679,915
Ensembl chr 7:45,616,979...45,679,726 		JBrowse link
G Cat catalase onset ISO DNA:polymorphism:promoter:c.-262C>T(rs1001179)(human) RGD PMID:17693525 RGD:8547520 NCBI chr 2:103,284,249...103,315,498
Ensembl chr 2:103,284,194...103,315,505 		JBrowse link
G Cep20 centrosomal protein 20 ISO ClinVar Annotator: match by term: Gronblad Strandberg syndrome ClinVar PMID:11439001 PMID:16541094 NCBI chr16:14,117,105...14,136,093
Ensembl chr16:14,117,108...14,135,269 		JBrowse link
G Eln elastin ISO RGD PMID:7524808 PMID:1936214 RGD:9585748, RGD:9585763 NCBI chr 5:134,731,449...134,776,300
Ensembl chr 5:134,731,447...134,776,177 		JBrowse link
G Gpx1 glutathione peroxidase 1 onset ISO DNA:polymorphism:cds:c.593C>T (rs1050450) RGD PMID:17693525 RGD:8547520 NCBI chr 9:108,216,279...108,217,541
Ensembl chr 9:108,216,102...108,217,542 		JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO DNA:SNPs, haplotype:promoter:multiple RGD PMID:20541540 RGD:8657064 NCBI chr 8:93,553,920...93,580,049
Ensembl chr 8:93,553,919...93,580,048 		JBrowse link
G Myh11 myosin, heavy polypeptide 11, smooth muscle ISO ClinVar Annotator: match by term: Gronblad Strandberg syndrome ClinVar PMID:11439001 PMID:16541094 NCBI chr16:14,012,392...14,109,227
Ensembl chr16:14,012,399...14,109,236 		JBrowse link
G Nde1 nudE neurodevelopment protein 1 ISO ClinVar Annotator: match by term: Gronblad Strandberg syndrome ClinVar PMID:16541094 NCBI chr16:13,981,139...14,010,792
Ensembl chr16:13,981,139...14,010,792 		JBrowse link
G Sod2 superoxide dismutase 2, mitochondrial onset ISO DNA:polymorphism:cds:c.47C>T(rs4880)(human) RGD PMID:17693525 RGD:8547520 NCBI chr17:13,226,726...13,237,006
Ensembl chr17:13,225,733...13,258,950 		JBrowse link
G Vegfa vascular endothelial growth factor A susceptibility ISO DNA:haplotype: : RGD PMID:19483196 RGD:7483615 NCBI chr17:46,327,919...46,343,303
Ensembl chr17:46,327,919...46,343,295 		JBrowse link
G Xylt1 xylosyltransferase 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Gronblad Strandberg syndrome | ClinVar Annotator: match by term: Pseudoxanthoma elasticum, modifier of severity of		 OMIM
CTD
ClinVar		 PMID:16571645 PMID:24581741 PMID:25741868 PMID:28085539 PMID:28492532 NCBI chr 7:116,980,214...117,266,853
Ensembl chr 7:116,980,214...117,272,803 		JBrowse link
G Xylt2 xylosyltransferase II ISO ClinVar Annotator: match by term: Gronblad Strandberg syndrome | ClinVar Annotator: match by term: Pseudoxanthoma elasticum, modifier of severity of
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:16571645 PMID:25741868 PMID:28492532 NCBI chr11:94,554,671...94,568,341
Ensembl chr11:94,554,677...94,568,341 		JBrowse link
Pseudoxanthoma Elasticum, Heterozygous term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc6 ATP-binding cassette, sub-family C member 6 ISO ClinVar Annotator: match by term: PSEUDOXANTHOMA ELASTICUM, HETEROZYGOUS ClinVar PMID:9536098 PMID:10811882 PMID:10835642 PMID:10835643 PMID:10954200 More... NCBI chr 7:45,625,804...45,679,915
Ensembl chr 7:45,616,979...45,679,726 		JBrowse link
Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation Factor Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ggcx gamma-glutamyl carboxylase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency
DNA:mutations: :		 OMIM
CTD
ClinVar
RGD		 PMID:9536098 PMID:9615107 PMID:17110937 PMID:17576681 PMID:18800149 More... RGD:11040509 NCBI chr 6:72,391,262...72,407,696
Ensembl chr 6:72,391,291...72,407,695 		JBrowse link
purpura term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il13 interleukin 13 susceptibility ISO associated withe Sjogren's Syndrome;DNA:SNP:cds:2044 G>A(human) RGD PMID:16166103 RGD:11528572 NCBI chr11:53,522,150...53,525,529
Ensembl chr11:53,522,151...53,525,529 		JBrowse link
purpura fulminans term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Proc protein C ISO CTD Direct Evidence: marker/mechanism CTD PMID:18376272 NCBI chr18:32,256,179...32,272,623
Ensembl chr18:32,256,179...32,272,623 		JBrowse link
Quebec platelet disorder term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Plau plasminogen activator, urokinase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Quebec platelet disorder		 CTD
OMIM
ClinVar		 PMID:12689937 PMID:18988861 PMID:20007542 PMID:22102275 PMID:25741868 More... NCBI chr14:20,886,730...20,893,456
Ensembl chr14:20,886,728...20,893,453 		JBrowse link
Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hoxa11 homeobox A11 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: THROMBOCYTOPENIA, CONGENITAL, WITH RADIOULNAR SYNOSTOSIS		 CTD
ClinVar		 PMID:24239177 PMID:25741868 NCBI chr 6:52,219,086...52,222,784
Ensembl chr 6:52,219,086...52,222,790 		JBrowse link
Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hoxa11 homeobox A11 ISO ClinVar Annotator: match by term: Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 OMIM
ClinVar		 PMID:11101832 PMID:25741868 NCBI chr 6:52,219,086...52,222,784
Ensembl chr 6:52,219,086...52,222,790 		JBrowse link
Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cav1 caveolin 1, caveolae protein ISO ClinVar Annotator: match by term: Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 ClinVar PMID:25741868 PMID:38177409 NCBI chr 6:17,306,387...17,341,323
Ensembl chr 6:17,306,334...17,341,451 		JBrowse link
G Mecom MDS1 and EVI1 complex locus ISO ClinVar Annotator: match by term: MECOM-related condition | ClinVar Annotator: match by term: Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:20091385 PMID:25741868 PMID:26581901 More... NCBI chr 3:30,005,445...30,563,937
Ensembl chr 3:30,005,445...30,602,157 		JBrowse link
Shwartzman phenomenon term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il10 interleukin 10 IMP RGD PMID:7593621 RGD:11049456 NCBI chr 1:130,947,459...130,952,707
Ensembl chr 1:130,947,582...130,952,711 		JBrowse link
G Il6 interleukin 6 treatment IMP RGD PMID:1381315 RGD:11060272 NCBI chr 5:30,218,112...30,224,973
Ensembl chr 5:30,218,112...30,224,979 		JBrowse link
Stormorken syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pgap2 post-GPI attachment to proteins 2 ISO ClinVar Annotator: match by term: Stormorken syndrome ClinVar PMID:28492532 NCBI chr 7:101,859,153...101,887,771
Ensembl chr 7:101,859,415...101,887,774 		JBrowse link
G Rhog ras homolog family member G ISO ClinVar Annotator: match by term: Stormorken syndrome ClinVar PMID:28492532 NCBI chr 7:101,888,330...101,899,325
Ensembl chr 7:101,888,330...101,905,261 		JBrowse link
G Stim1 stromal interaction molecule 1 ISO
IAGP		 OMIM:185070
ClinVar Annotator: match by term: Stormorken syndrome | ClinVar Annotator: match by term: THROMBOCYTOPATHY, ASPLENIA, AND MIOSIS		 OMIM
MouseDO
ClinVar		 PMID:4085141 PMID:9536098 PMID:12623447 PMID:12745453 PMID:12944247 More... NCBI chr 7:101,909,279...102,086,525
Ensembl chr 7:101,917,013...102,086,526 		JBrowse link
Supraumbilical Midabdominal Raphe and Facial Cavernous Hemangiomas term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Macf1 microtubule-actin crosslinking factor 1 ISO ClinVar Annotator: match by term: Facial hemangioma ClinVar PMID:31474318 NCBI chr 4:123,243,386...123,581,594
Ensembl chr 4:123,243,426...123,581,331 		JBrowse link
Takenouchi-Kosaki Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdc42 cell division cycle 42 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Takenouchi-Kosaki syndrome		 OMIM
CTD
ClinVar		 PMID:25741868 PMID:26386261 PMID:26708094 PMID:26795593 PMID:27513193 More... NCBI chr 4:137,047,011...137,085,007
Ensembl chr 4:137,047,007...137,085,031 		JBrowse link
Thrombocythemia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mpl myeloproliferative leukemia virus oncogene ISO ClinVar Annotator: match by term: Thrombocythemia 2 | ClinVar Annotator: match by term: Thrombocythemia 2, somatic OMIM
ClinVar		 PMID:8073287 PMID:11133753 PMID:14764528 PMID:15269348 PMID:16199547 More... NCBI chr 4:118,299,609...118,314,771
Ensembl chr 4:118,299,612...118,314,710 		JBrowse link
Thrombocythemia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Insl6 insulin-like 6 ISO ClinVar Annotator: match by term: THROMBOCYTOSIS 3 | ClinVar Annotator: match by term: Thrombocythemia 3 ClinVar PMID:15781101 PMID:15793561 PMID:15837627 PMID:15858187 PMID:15920007 More... NCBI chr19:29,298,754...29,302,718
Ensembl chr19:29,298,744...29,302,756 		JBrowse link
G Jak2 Janus kinase 2 ISO ClinVar Annotator: match by term: THROMBOCYTOSIS 3 | ClinVar Annotator: match by term: Thrombocythemia 3 OMIM
ClinVar		 PMID:15781101 PMID:15793561 PMID:15837627 PMID:15858187 PMID:15920007 More... NCBI chr19:29,229,006...29,290,495
Ensembl chr19:29,229,228...29,290,480 		JBrowse link
thrombocytopenia 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: Thrombocytopenia ClinVar PMID:25741868 PMID:28492532 PMID:31064749 PMID:32088153 NCBI chr17:84,965,602...84,990,439
Ensembl chr17:84,965,662...84,990,439 		JBrowse link
G Abcg8 ATP binding cassette subfamily G member 8 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:25741868 PMID:28492532 PMID:32935436 NCBI chr17:84,983,730...85,007,761
Ensembl chr17:84,983,730...85,007,761 		JBrowse link
G Acbd5 acyl-Coenzyme A binding domain containing 5 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:22,958,189...23,004,525
Ensembl chr 2:22,958,179...23,005,570 		JBrowse link
G Actb actin, beta ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:10411937 PMID:25255767 PMID:25741868 PMID:30315159 NCBI chr 5:142,888,870...142,892,509
Ensembl chr 5:142,888,870...142,892,509 		JBrowse link
G Actn1 actinin, alpha 1 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:23434115 PMID:24069336 PMID:25361813 PMID:25741868 PMID:28492532 More... NCBI chr12:80,214,316...80,307,165
Ensembl chr12:80,214,321...80,307,145 		JBrowse link
G Acvrl1 activin A receptor, type II-like 1 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:20501893 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr15:101,026,403...101,043,217
Ensembl chr15:101,026,403...101,043,217 		JBrowse link
G Alb albumin ISO CTD Direct Evidence: marker/mechanism CTD PMID:6734075 NCBI chr 5:90,608,729...90,624,461
Ensembl chr 5:90,608,756...90,624,461 		JBrowse link
G Ankrd26 ankyrin repeat domain 26 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:10521306 PMID:20626622 PMID:21211618 PMID:21467542 PMID:22672365 More... NCBI chr 6:118,478,261...118,539,244
Ensembl chr 6:118,478,269...118,539,187 		JBrowse link
G Ap3b1 adaptor-related protein complex 3, beta 1 subunit ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:25741868 PMID:28492532 PMID:32935436 NCBI chr13:94,492,332...94,702,838
Ensembl chr13:94,495,468...94,702,825 		JBrowse link
G Aspg asparaginase ISO CTD Direct Evidence: marker/mechanism CTD PMID:2187653 NCBI chr12:112,073,117...112,094,007
Ensembl chr12:112,073,113...112,093,993 		JBrowse link
G Brip1 BRCA1 interacting protein C-terminal helicase 1 ISO human gene in a mouse model RGD PMID:15613547 RGD:11252148 NCBI chr11:85,948,957...86,092,041
Ensembl chr11:85,948,964...86,092,019 		JBrowse link
G Cbr1 carbonyl reductase 1 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:32581362 NCBI chr16:93,404,752...93,407,226
Ensembl chr16:93,402,741...93,407,393 		JBrowse link
G Ccl2 C-C motif chemokine ligand 2 ISO associated with Lupus Erythematosus, Systemic;DNA:snp:promoter:g.-2518A>G (human) RGD PMID:20414371 RGD:11528535 NCBI chr11:81,926,403...81,928,278
Ensembl chr11:81,926,397...81,928,279 		JBrowse link
G Cd40lg CD40 ligand treatment IMP associated with Malaria RGD PMID:11865192 RGD:11352243 NCBI chr  X:56,257,448...56,269,402
Ensembl chr  X:56,257,503...56,269,402 		JBrowse link
G Chek2 checkpoint kinase 2 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:10617473 PMID:11053450 PMID:11479205 PMID:11719428 PMID:11967536 More... NCBI chr 5:110,987,668...111,022,006
Ensembl chr 5:110,987,845...111,022,011 		JBrowse link
G Clic6 chloride intracellular channel 6 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:32581362 NCBI chr16:92,295,035...92,338,129
Ensembl chr16:92,282,624...92,338,131 		JBrowse link
G Col5a1 collagen, type V, alpha 1 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:28492532 PMID:29924831 NCBI chr 2:27,776,393...27,929,522
Ensembl chr 2:27,776,437...27,929,526 		JBrowse link
G Col5a2 collagen, type V, alpha 2 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:45,413,491...45,542,442
Ensembl chr 1:45,413,481...45,542,442 		JBrowse link
G Csf2 colony stimulating factor 2 (granulocyte-macrophage) ISO CTD Direct Evidence: marker/mechanism CTD PMID:8297739 NCBI chr11:54,138,096...54,140,725
Ensembl chr11:54,138,097...54,140,493 		JBrowse link
G Csf3 colony stimulating factor 3 (granulocyte) ISO CTD Direct Evidence: marker/mechanism CTD PMID:7543699 PMID:12085204 NCBI chr11:98,591,287...98,594,457
Ensembl chr11:98,592,089...98,594,455 		JBrowse link
G Cycs cytochrome c, somatic no_association ISO DNA:transition mutation:exon:p.G41S(human)
ClinVar Annotator: match by term: Thrombocytopenia
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:18345000 PMID:22102269 PMID:24326104 PMID:25741868 PMID:28492532 More... RGD:11352700, RGD:11352702 NCBI chr 6:50,539,543...50,543,549
Ensembl chr 6:50,539,543...50,543,518 		JBrowse link
G Dync2li1 dynein cytoplasmic 2 light intermediate chain 1 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:25741868 PMID:28492532 PMID:31064749 PMID:32088153 NCBI chr17:84,933,903...84,962,996
Ensembl chr17:84,933,924...84,963,016 		JBrowse link
G Epo erythropoietin ISO CTD Direct Evidence: therapeutic CTD PMID:8260696 NCBI chr 5:137,481,282...137,484,078
Ensembl chr 5:137,481,282...137,531,504 		JBrowse link
G Etv6 ets variant 6 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Thrombocytopenia		 CTD
ClinVar		 PMID:25581430 PMID:25741868 PMID:25807284 PMID:26102509 PMID:26522332 More... NCBI chr 6:134,012,663...134,247,121
Ensembl chr 6:134,012,663...134,247,121 		JBrowse link
G F10 coagulation factor X ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar NCBI chr 8:13,087,308...13,106,676
Ensembl chr 8:13,087,308...13,106,676 		JBrowse link
G F11 coagulation factor XI ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:2052060 PMID:2813350 PMID:9326232 PMID:10593931 PMID:15026311 More... NCBI chr 8:45,693,696...45,715,092
Ensembl chr 8:45,694,211...45,715,068 		JBrowse link
G F5 coagulation factor V ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:25741868 PMID:28492532 PMID:34355501 NCBI chr 1:163,979,396...164,048,539
Ensembl chr 1:163,979,407...164,047,846 		JBrowse link
G F7 coagulation factor VII treatment ISO human protein in a rat model RGD PMID:19175492 RGD:11049531 NCBI chr 8:13,075,499...13,085,809
Ensembl chr 8:13,076,034...13,085,809 		JBrowse link
G Fcgr3 Fc receptor, IgG, low affinity III ISO RGD PMID:8772238 PMID:10201963 RGD:11040889, RGD:11040944 NCBI chr 1:170,878,738...170,893,477
Ensembl chr 1:170,878,743...170,892,504 		JBrowse link
G Fga fibrinogen alpha chain treatment ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar
RGD		 PMID:25741868 PMID:28492532 PMID:2005585 RGD:10755505 NCBI chr 3:82,933,460...82,940,934
Ensembl chr 3:82,933,383...82,940,934 		JBrowse link
G Fgb fibrinogen beta chain ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:10688828 PMID:19420351 PMID:20978265 PMID:24033266 PMID:25741868 More... NCBI chr 3:82,949,553...82,957,170
Ensembl chr 3:82,947,448...82,957,170 		JBrowse link
G Fgg fibrinogen gamma chain ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:10688828 PMID:15795540 PMID:17938819 PMID:19300242 PMID:21228398 More... NCBI chr 3:82,915,031...82,922,363
Ensembl chr 3:82,915,031...82,922,356 		JBrowse link
G Fli1 Friend leukemia integration 1 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar
RGD		 PMID:24100448 PMID:32581362 PMID:15232614 RGD:1582490 NCBI chr 9:32,333,500...32,454,292
Ensembl chr 9:32,333,500...32,454,157 		JBrowse link
G Flna filamin, alpha ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:18414213 PMID:21836662 PMID:25741868 PMID:26467025 PMID:28492532 More... NCBI chr  X:73,267,067...73,293,787
Ensembl chr  X:73,267,067...73,293,426 		JBrowse link
G Gata1 GATA binding protein 1 IAGP
ISO		 OMIM:188000 | OMIM:273900 | OMIM:300367 | OMIM:313900 | OMIM:612004
ClinVar Annotator: match by term: Thrombocytopenia
CTD Direct Evidence: marker/mechanism		 MouseDO
ClinVar
CTD
RGD		 PMID:11418466 PMID:16966598 PMID:20301538 PMID:23278136 PMID:25741868 More... RGD:10450735 NCBI chr  X:7,825,504...7,842,844
Ensembl chr  X:7,825,499...7,844,310 		JBrowse link
G Gba1 glucosylceramidase beta 1 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:1348297 PMID:1897529 PMID:1899336 PMID:1971142 PMID:2117855 More... NCBI chr 3:89,110,235...89,119,944
Ensembl chr 3:89,110,235...89,116,273 		JBrowse link
G Gfi1b growth factor independent 1B ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:25741868 PMID:31064749 NCBI chr 2:28,499,462...28,511,994
Ensembl chr 2:28,499,462...28,511,994 		JBrowse link
G Ggcx gamma-glutamyl carboxylase ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:25741868 PMID:28492532 PMID:32935436 NCBI chr 6:72,391,262...72,407,696
Ensembl chr 6:72,391,291...72,407,695 		JBrowse link
G Gne glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:24796702 PMID:25741868 PMID:26980148 PMID:28320138 PMID:28492532 More... NCBI chr 4:44,034,075...44,084,177
Ensembl chr 4:44,034,075...44,084,177 		JBrowse link
G Gp1ba glycoprotein 1b, alpha polypeptide IMP
ISO		 ClinVar Annotator: match by term: Thrombocytopenia ClinVar
RGD		 PMID:8384898 PMID:25741868 PMID:29082515 PMID:31064749 PMID:34355501 More... RGD:10450849 NCBI chr11:70,529,928...70,534,812
Ensembl chr11:70,529,948...70,532,862 		JBrowse link
G Gp1bb glycoprotein Ib, beta polypeptide ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Thrombocytopenia		 CTD
ClinVar		 PMID:10887115 PMID:15213848 PMID:25741868 PMID:31064749 PMID:32581362 More... NCBI chr16:18,439,069...18,441,153
Ensembl chr16:18,439,067...18,441,153 		JBrowse link
G Gp9 glycoprotein 9 platelet ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Thrombocytopenia		 CTD
ClinVar		 PMID:8049428 PMID:8481514 PMID:14510954 PMID:15225244 PMID:25370924 More... NCBI chr 6:87,753,115...87,756,768
Ensembl chr 6:87,755,054...87,756,750 		JBrowse link
G H2-Q1 histocompatibility 2, Q region locus 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:3459889 NCBI chr17:35,539,503...35,547,118
Ensembl chr17:35,539,381...35,544,075 		JBrowse link
G Ifnl2 interferon lambda 2 treatment ISO associated with Hepatitis C, Chronic;DNA:SNP: :rs8099917(human) RGD PMID:24304453 RGD:11528555 NCBI chr 7:28,208,209...28,209,957
Ensembl chr 7:28,208,261...28,209,880 		JBrowse link
G Il10 interleukin 10 severity ISO associated with Malaria, Vivax RGD PMID:25128199 PMID:11091188 RGD:11041893, RGD:11049172 NCBI chr 1:130,947,459...130,952,707
Ensembl chr 1:130,947,582...130,952,711 		JBrowse link
G Il1b interleukin 1 beta treatment ISO RGD PMID:1331350 RGD:10450883 NCBI chr 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059 		JBrowse link
G Il3 interleukin 3 ISO CTD Direct Evidence: therapeutic CTD PMID:8202718 NCBI chr11:54,155,911...54,158,105
Ensembl chr11:54,156,129...54,158,103 		JBrowse link
G Il6 interleukin 6 severity ISO associated with Malaria, Vivax RGD PMID:25128199 RGD:11041893 NCBI chr 5:30,218,112...30,224,973
Ensembl chr 5:30,218,112...30,224,979 		JBrowse link
G Itga2 integrin alpha 2 ISO associated with Hantavirus Infections;DNA:SNP: :807C>T (rs1126643) (human) RGD PMID:22133274 RGD:11530072 NCBI chr13:114,969,617...115,068,588
Ensembl chr13:114,969,617...115,068,636 		JBrowse link
G Itga2b integrin alpha 2b ISO DNA:missense mutation: :p.R995W (human)
ClinVar Annotator: match by term: Thrombocytopenia
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:1638023 PMID:9215749 PMID:9834222 PMID:15225244 PMID:18065693 More... RGD:10755467 NCBI chr11:102,344,134...102,360,570
Ensembl chr11:102,344,123...102,360,948 		JBrowse link
G Itgb3 integrin beta 3 ISO DNA:splice-site mutation:intron:c.2134+1G>C (human)
ClinVar Annotator: match by term: Thrombocytopenia
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:15225244 PMID:25741868 PMID:28492532 PMID:31064749 PMID:32581362 More... RGD:10755449 NCBI chr11:104,498,826...104,561,302
Ensembl chr11:104,498,826...104,561,302 		JBrowse link
G Itpa inosine triphosphatase (nucleoside triphosphate pyrophosphatase) treatment ISO associated with Hepatitis C;DNA:missense mutation, splice-site mutaion:exon, intron:p.P32T (rs1127354), rs7270101 (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:18662289 PMID:24519039 RGD:10766473 NCBI chr 2:130,506,702...130,523,534
Ensembl chr 2:130,509,530...130,523,534 		JBrowse link
G Kcne1 potassium voltage-gated channel, Isk-related subfamily, member 1 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:32581362 NCBI chr16:92,142,889...92,156,356
Ensembl chr16:92,142,870...92,156,356 		JBrowse link
G Kcne2 potassium voltage-gated channel, Isk-related subfamily, gene 2 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:32581362 NCBI chr16:92,089,277...92,095,021
Ensembl chr16:92,089,277...92,095,017 		JBrowse link
G Mastl microtubule associated serine/threonine kinase-like ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar
RGD		 PMID:25741868 PMID:28492532 PMID:12890928 RGD:1598951 NCBI chr 2:23,006,549...23,046,036
Ensembl chr 2:23,005,618...23,046,036 		JBrowse link
G Mbl2 mannose-binding lectin (protein C) 2 susceptibility ISO associated with Dengue;DNA:SNP:exon: RGD PMID:18361938 RGD:11530042 NCBI chr19:30,210,306...30,217,087
Ensembl chr19:30,210,342...30,217,087 		JBrowse link
G Mcfd2 multiple coagulation factor deficiency 2 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar NCBI chr17:87,561,871...87,573,382
Ensembl chr17:87,561,871...87,573,363 		JBrowse link
G Mecom MDS1 and EVI1 complex locus ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:32581362 NCBI chr 3:30,005,445...30,563,937
Ensembl chr 3:30,005,445...30,602,157 		JBrowse link
G Mpl myeloproliferative leukemia virus oncogene ameliorates ISO
IMP		 congenital amegakaryocytic thrombocytopenia, OMIM:604498, DNA:point mutation:Q186X, frameshift:1499delT
ClinVar Annotator: match by term: Thrombocytopenia
associated with End Stage Liver Disease
associated with Lupus Erythematosus, Systemic
protein:decreased expression:blood, platelet (rat)		 ClinVar
RGD		 PMID:971406 PMID:8073287 PMID:10971406 PMID:11133753 PMID:11972523 More... RGD:1600454, RGD:126925754, RGD:10449017, RGD:10449011, RGD:10448997 NCBI chr 4:118,299,609...118,314,771
Ensembl chr 4:118,299,612...118,314,710 		JBrowse link
G Mrps6 mitochondrial ribosomal protein S6 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:32581362 NCBI chr16:91,855,224...91,909,115
Ensembl chr16:91,855,158...91,909,115 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase no_association ISO associated with Precursor Cell Lymphoblastic Leukemia-Lymphoma;DNA:SNP: :1298A>C (human)
CTD Direct Evidence: marker/mechanism
associated with Precursor Cell Lymphoblastic Leukemia-Lymphoma;DNA:SNP: :677C>T, 1793G>A (human)		 CTD
RGD		 PMID:19391036 PMID:23498762 PMID:23498762 RGD:10449418, RGD:10449418 NCBI chr 4:148,123,534...148,144,019
Ensembl chr 4:148,123,534...148,144,008 		JBrowse link
G Myh9 myosin, heavy polypeptide 9, non-muscle ISO May-Hegglin anomaly, OMIM:155100, DNA:point mutation:exon:R1933X
ClinVar Annotator: match by term: Thrombocytopenia		 ClinVar
RGD		 PMID:1449176 PMID:10973259 PMID:11159552 PMID:11590545 PMID:11776386 More... RGD:1600553 NCBI chr15:77,644,788...77,726,315
Ensembl chr15:77,644,787...77,726,375 		JBrowse link
G Nsd2 nuclear receptor binding SET domain protein 2 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:25741868 NCBI chr 5:33,974,286...34,055,310
Ensembl chr 5:33,978,069...34,055,319 		JBrowse link
G P2ry12 purinergic receptor P2Y, G-protein coupled 12 IMP associated with Thrombosis RGD PMID:21652673 RGD:6480523 NCBI chr 3:59,123,692...59,170,408
Ensembl chr 3:59,123,693...59,170,292 		JBrowse link
G Pecam1 platelet/endothelial cell adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10848805 NCBI chr11:106,545,039...106,606,107
Ensembl chr11:106,545,043...106,641,454 		JBrowse link
G Pf4 platelet factor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8282825 PMID:9158107 PMID:9446652 PMID:10381515 PMID:11588041 More... NCBI chr 5:90,920,362...90,921,242
Ensembl chr 5:90,920,294...90,921,242 		JBrowse link
G Plcb2 phospholipase C, beta 2 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:25741868 NCBI chr 2:118,535,484...118,559,140
Ensembl chr 2:118,537,998...118,558,919 		JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:4746100 PMID:11704759 PMID:11992261 PMID:12161469 PMID:12634870 More... NCBI chr 5:121,268,596...121,329,460
Ensembl chr 5:121,268,596...121,329,460 		JBrowse link
G Rcan1 regulator of calcineurin 1 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:32581362 NCBI chr16:92,188,839...92,263,057
Ensembl chr16:92,188,841...92,267,755 		JBrowse link
G Runx1 runt related transcription factor 1 IMP
ISO		 ClinVar Annotator: match by term: Thrombocytopenia ClinVar
RGD		 PMID:10068652 PMID:10508512 PMID:10973259 PMID:11830488 PMID:12002768 More... RGD:11251691 NCBI chr16:92,398,354...92,622,962
Ensembl chr16:92,398,354...92,623,037 		JBrowse link
G Setd4 SET domain containing 4 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:32581362 NCBI chr16:93,380,345...93,401,693
Ensembl chr16:93,380,345...93,400,951 		JBrowse link
G Slc4a1 solute carrier family 4 (anion exchanger), member 1 IEP mRNA:decreased expression:erythrocyte (mouse) RGD PMID:22279059 RGD:10450520 NCBI chr11:102,239,646...102,256,107
Ensembl chr11:102,239,650...102,257,029 		JBrowse link
G Slc5a3 solute carrier family 5 (inositol transporters), member 3 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:32581362 NCBI chr16:91,855,210...91,884,361
Ensembl chr16:91,855,210...91,884,361 		JBrowse link
G Smim11 small integral membrane protein 11 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:32581362 NCBI chr16:92,098,131...92,109,929
Ensembl chr16:92,098,174...92,109,929 		JBrowse link
G Sparc secreted acidic cysteine rich glycoprotein ISO CTD Direct Evidence: marker/mechanism CTD PMID:27725143 NCBI chr11:55,284,985...55,310,906
Ensembl chr11:55,285,326...55,314,009 		JBrowse link
G Tbxa2r thromboxane A2 receptor IMP RGD PMID:2528013 RGD:11059527 NCBI chr10:81,164,102...81,171,008
Ensembl chr10:81,164,565...81,171,006 		JBrowse link
G Tgfb1 transforming growth factor, beta 1 IEP protein:decreased expression:plasma: RGD PMID:22134166 RGD:11073617 NCBI chr 7:25,386,406...25,404,503
Ensembl chr 7:25,386,427...25,404,502 		JBrowse link
G Thbd thrombomodulin ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:10102456 PMID:11552992 PMID:11986219 PMID:19625716 PMID:20595690 More... NCBI chr 2:148,246,391...148,250,108
Ensembl chr 2:148,246,386...148,250,108 		JBrowse link
G Thpo thrombopoietin ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:25741868 PMID:28466964 PMID:28559357 PMID:31064749 PMID:32150607 NCBI chr16:20,543,204...20,553,261
Ensembl chr16:20,543,204...20,553,261 		JBrowse link
G Tnf tumor necrosis factor severity ISO associated with Hemorrhagic Fever with Renal Syndrome;DNA:SNP:promoter:-238G>A (human)
associated with Malaria, Vivax		 RGD PMID:16987073 PMID:25128199 RGD:10449459, RGD:11041893 NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983 		JBrowse link
G Tnfrsf10b tumor necrosis factor receptor superfamily, member 10b ISO CTD Direct Evidence: marker/mechanism CTD PMID:19652058 NCBI chr14:70,004,921...70,021,860
Ensembl chr14:70,004,921...70,021,860 		JBrowse link
G Tubb1 tubulin, beta 1 class VI ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:24777453 PMID:25741868 PMID:27346686 PMID:28054583 PMID:28492532 More... NCBI chr 2:174,292,388...174,300,173
Ensembl chr 2:174,292,488...174,299,675 		JBrowse link
G Vps33b vacuolar protein sorting 33B ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:79,919,369...79,941,323
Ensembl chr 7:79,919,397...79,941,502 		JBrowse link
G Vwf Von Willebrand factor ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:1581215 PMID:1832934 PMID:1906877 PMID:1918030 PMID:3259690 More... NCBI chr 6:125,529,911...125,663,642
Ensembl chr 6:125,523,737...125,663,642 		JBrowse link
G Was Wiskott-Aldrich syndrome ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:7753869 PMID:8666397 PMID:8757563 PMID:9326235 PMID:11167787 More... NCBI chr  X:7,947,705...7,956,730
Ensembl chr  X:7,947,692...7,956,737 		JBrowse link
G Wdr1 WD repeat domain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17515402 NCBI chr 5:38,684,149...38,720,265
Ensembl chr 5:38,684,156...38,720,564 		JBrowse link
G Xdh xanthine dehydrogenase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Thrombocytopenia		 CTD
ClinVar		 PMID:2510358 PMID:25741868 PMID:28492532 PMID:30755392 NCBI chr17:74,190,890...74,257,191
Ensembl chr17:74,190,890...74,257,191 		JBrowse link
Thrombocytopenia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gata1 GATA binding protein 1 ISO associated with Beta-Thalassemia;DNA:missense mutation: :p.R216Q (human) RGD PMID:12200364 RGD:10450747 NCBI chr  X:7,825,504...7,842,844
Ensembl chr  X:7,825,499...7,844,310 		JBrowse link
G Was Wiskott-Aldrich syndrome ISO ClinVar Annotator: match by term: THROMBOCYTOPENIA, X-LINKED, 1 | ClinVar Annotator: match by term: Thrombocytopenia 1 | ClinVar Annotator: match by term: Thrombocytopenia, X-linked
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:3284030 PMID:7579329 PMID:7753869 PMID:7795648 PMID:8528198 More... NCBI chr  X:7,947,705...7,956,730
Ensembl chr  X:7,947,692...7,956,737 		JBrowse link
Thrombocytopenia 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ptprj protein tyrosine phosphatase receptor type J ISO ClinVar Annotator: match by term: Thrombocytopenia 10 OMIM
ClinVar		 PMID:30591527 NCBI chr 2:90,260,100...90,411,102
Ensembl chr 2:90,260,098...90,410,991 		JBrowse link
Thrombocytopenia 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rap1b RAS related protein 1b ISO ClinVar Annotator: match by term: Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies OMIM
ClinVar		 PMID:12213964 PMID:25741868 PMID:25935485 PMID:29235861 PMID:32627184 More... NCBI chr10:117,650,502...117,681,879
Ensembl chr10:117,649,776...117,681,940 		JBrowse link
Thrombocytopenia 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gne glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase ISO OMIM NCBI chr 4:44,034,075...44,084,177
Ensembl chr 4:44,034,075...44,084,177 		JBrowse link
THROMBOCYTOPENIA 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gale galactose-4-epimerase, UDP ISO OMIM NCBI chr 4:135,690,550...135,695,489
Ensembl chr 4:135,691,038...135,695,489 		JBrowse link
Thrombocytopenia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acbd5 acyl-Coenzyme A binding domain containing 5 ISO ClinVar Annotator: match by term: Thrombocytopenia 2 ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:22,958,189...23,004,525
Ensembl chr 2:22,958,179...23,005,570 		JBrowse link
G Ankrd26 ankyrin repeat domain 26 ISO ClinVar Annotator: match by term: ANKRD26-related condition | ClinVar Annotator: match by term: Thrombocytopenia 2
CTD Direct Evidence: marker/mechanism
DNA:mutations:5'utr:		 OMIM
ClinVar
CTD
RGD		 PMID:10521306 PMID:17666371 PMID:20626622 PMID:21211618 PMID:21467542 More... RGD:9681743 NCBI chr 6:118,478,261...118,539,244
Ensembl chr 6:118,478,269...118,539,187 		JBrowse link
G Mastl microtubule associated serine/threonine kinase-like ISO ClinVar Annotator: match by term: Thrombocytopenia 2 ClinVar PMID:10891439 PMID:12890928 PMID:19460416 PMID:22102272 PMID:25741868 More... NCBI chr 2:23,006,549...23,046,036
Ensembl chr 2:23,005,618...23,046,036 		JBrowse link
Thrombocytopenia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fyb1 FYN binding protein 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Thrombocytopenia 3		 OMIM
CTD
ClinVar		 PMID:25741868 PMID:25876182 NCBI chr15:6,552,280...6,695,089
Ensembl chr15:6,552,334...6,692,794 		JBrowse link
Thrombocytopenia 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cycs cytochrome c, somatic ISO ClinVar Annotator: match by term: Thrombocytopenia 4
CTD Direct Evidence: marker/mechanism
DNA:mutation:cds:c.145T>C(p.Y48H)(human)		 OMIM
ClinVar
CTD
RGD		 PMID:18345000 PMID:22102269 PMID:24326104 PMID:25741868 PMID:28492532 More... RGD:11352699 NCBI chr 6:50,539,543...50,543,549
Ensembl chr 6:50,539,543...50,543,518 		JBrowse link
Thrombocytopenia 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Etv6 ets variant 6 ISO ClinVar Annotator: match by term: Thrombocytopenia 5
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:9694803 PMID:15806161 PMID:17576681 PMID:17988997 More... NCBI chr 6:134,012,663...134,247,121
Ensembl chr 6:134,012,663...134,247,121 		JBrowse link
Thrombocytopenia 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Src Rous sarcoma oncogene ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Thrombocytopenia 6		 OMIM
CTD
ClinVar		 PMID:25741868 PMID:26936507 PMID:32581362 NCBI chr 2:157,265,828...157,313,758
Ensembl chr 2:157,260,364...157,313,782 		JBrowse link
Thrombocytopenia 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agxt alanine-glyoxylate aminotransferase ISO Hyperoxaluria, primary, type I (Oxalosis I) OMIA PMID:1672096 PMID:2394849 PMID:22486513 NCBI chr 1:93,062,962...93,073,143
Ensembl chr 1:93,062,962...93,073,143 		JBrowse link
G Ikzf5 IKAROS family zinc finger 5 ISO ClinVar Annotator: match by term: Thrombocytopenia 7 OMIM
ClinVar		 PMID:25741868 PMID:31217188 PMID:32419556 NCBI chr 7:130,990,378...131,012,243
Ensembl chr 7:130,990,381...131,012,250 		JBrowse link
Thrombocytopenia 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actb actin, beta ISO ClinVar Annotator: match by term: Thrombocytopenia 8, with dysmorphic features and developmental delay OMIM
ClinVar		 PMID:10411937 PMID:25255767 PMID:28492532 PMID:30315159 PMID:30733661 More... NCBI chr 5:142,888,870...142,892,509
Ensembl chr 5:142,888,870...142,892,509 		JBrowse link
Thrombocytopenia 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Thpo thrombopoietin ISO ClinVar Annotator: match by term: Thrombocytopenia 9 OMIM
ClinVar		 PMID:25741868 PMID:28466964 PMID:28492532 PMID:28559357 PMID:31064749 More... NCBI chr16:20,543,204...20,553,261
Ensembl chr16:20,543,204...20,553,261 		JBrowse link
thrombocytopenia due to platelet alloimmunization term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fcgr4 Fc receptor, IgG, low affinity IV treatment ISO DNA:SNP:cds: RGD PMID:22775462 RGD:11040770 NCBI chr 1:170,846,495...170,857,330
Ensembl chr 1:170,846,489...170,857,330 		JBrowse link
G Socs1 suppressor of cytokine signaling 1 ISO ClinVar Annotator: match by term: IMMUNE THROMBOCYTOPENIA ClinVar PMID:33087723 NCBI chr16:10,601,672...10,603,400
Ensembl chr16:10,600,104...10,603,400 		JBrowse link
Thrombocytopenia, Anemia, and Myelofibrosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mpig6b megakaryocyte and platelet inhibitory receptor G6b ISO ClinVar Annotator: match by term: Thrombocytopenia, anemia, and myelofibrosis
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:23112346 PMID:25741868 PMID:27743390 PMID:28492532 NCBI chr17:35,281,669...35,285,761
Ensembl chr17:35,281,669...35,285,160 		JBrowse link
thrombocytopenia-absent radius syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acp6 acid phosphatase 6, lysophosphatidic ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr 3:97,066,070...97,083,892
Ensembl chr 3:97,066,093...97,084,615 		JBrowse link
G Ankrd34a ankyrin repeat domain 34A ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar PMID:17236129 PMID:22366785 PMID:22581968 PMID:24220582 PMID:26233629 More... NCBI chr 3:96,503,599...96,507,442
Ensembl chr 3:96,503,952...96,507,091 		JBrowse link
G Ankrd35 ankyrin repeat domain 35 ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar PMID:17236129 PMID:22366785 PMID:22581968 PMID:24220582 PMID:26233629 More... NCBI chr 3:96,577,447...96,598,350
Ensembl chr 3:96,577,447...96,598,348 		JBrowse link
G Bcl9 B cell CLL/lymphoma 9 ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr 3:97,110,974...97,205,718
Ensembl chr 3:97,110,978...97,205,233 		JBrowse link
G Cd160 CD160 antigen ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr 3:96,706,079...96,736,667
Ensembl chr 3:96,706,079...96,736,667 		JBrowse link
G Chd1l chromodomain helicase DNA binding protein 1-like ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr 3:97,468,056...97,517,538
Ensembl chr 3:97,468,058...97,517,519 		JBrowse link
G Fmo5 flavin containing monooxygenase 5 ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr 3:97,517,248...97,562,603
Ensembl chr 3:97,536,120...97,562,598 		JBrowse link
G Gja5 gap junction protein, alpha 5 ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr 3:96,939,718...96,960,950
Ensembl chr 3:96,812,009...96,984,732 		JBrowse link
G Gja8 gap junction protein, alpha 8 ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr 3:96,820,882...96,833,367
Ensembl chr 3:96,820,882...96,833,336 		JBrowse link
G Gm23737 predicted gene, 23737 ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr15:88,903,424...88,903,582
Ensembl chr15:88,903,424...88,903,582 		JBrowse link
G Gm57479 predicted gene, 57479 ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr 3:96,357,762...96,357,927
Ensembl chr 3:96,357,762...96,357,927 		JBrowse link
G Gpr89 G protein-coupled receptor 89 ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr 3:96,775,630...96,812,662
Ensembl chr 3:96,775,597...96,812,662 		JBrowse link
G Hjv hemojuvelin BMP co-receptor ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar PMID:17236129 PMID:22366785 PMID:22581968 PMID:24220582 PMID:26233629 More... NCBI chr 3:96,432,479...96,436,532
Ensembl chr 3:96,432,488...96,436,526 		JBrowse link
G Itga10 integrin, alpha 10 ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar PMID:17236129 PMID:22366785 PMID:22581968 PMID:24220582 PMID:26233629 More... NCBI chr 3:96,552,900...96,571,835
Ensembl chr 3:96,552,900...96,571,835 		JBrowse link
G Lix1l Lix1-like ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar PMID:17236129 PMID:22366785 PMID:22581968 PMID:24220582 PMID:26233629 More... NCBI chr 3:96,508,449...96,532,668
Ensembl chr 3:96,508,465...96,533,487 		JBrowse link
G Nudt17 nudix hydrolase 17 ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar PMID:17236129 PMID:22366785 PMID:22581968 PMID:24220582 PMID:26233629 More... NCBI chr 3:96,613,208...96,616,233
Ensembl chr 3:96,613,383...96,615,878 		JBrowse link
G Pdzk1 PDZ domain containing 1 ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr 3:96,736,772...96,778,242
Ensembl chr 3:96,736,600...96,778,242 		JBrowse link
G Pex11b peroxisomal biogenesis factor 11 beta ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar PMID:17236129 PMID:22366785 PMID:22581968 PMID:24220582 PMID:26233629 More... NCBI chr 3:96,542,673...96,552,697
Ensembl chr 3:96,542,692...96,552,682 		JBrowse link
G Pias3 protein inhibitor of activated STAT 3 ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar PMID:17236129 PMID:22366785 PMID:22581968 PMID:24220582 PMID:26233629 More... NCBI chr 3:96,603,679...96,613,386
Ensembl chr 3:96,603,700...96,613,386 		JBrowse link
G Polr3c polymerase (RNA) III (DNA directed) polypeptide C ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar PMID:17236129 PMID:22366785 PMID:22581968 PMID:24220582 PMID:26233629 More... NCBI chr 3:96,618,836...96,634,803
Ensembl chr 3:96,618,806...96,634,944 		JBrowse link
G Polr3gl polymerase (RNA) III (DNA directed) polypeptide G like ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar PMID:17236129 PMID:22366785 PMID:22581968 PMID:24220582 PMID:26233629 More... NCBI chr 3:96,485,188...96,501,497
Ensembl chr 3:96,485,188...96,501,497 		JBrowse link
G Prkab2 protein kinase, AMP-activated, beta 2 non-catalytic subunit ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr 3:97,565,527...97,581,128
Ensembl chr 3:97,565,509...97,581,128 		JBrowse link
G Rbm8a RNA binding motif protein 8a ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:16501574 PMID:17236129 PMID:17576681 PMID:20301781 More... NCBI chr 3:96,537,244...96,541,107
Ensembl chr 3:96,537,249...96,541,107 		JBrowse link
G Rnf115 ring finger protein 115 ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr 3:96,634,869...96,698,471
Ensembl chr 3:96,634,980...96,698,954 		JBrowse link
G Rnu1a1 U1a1 small nuclear RNA ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr11:87,313,693...87,313,856
Ensembl chr11:87,313,693...87,313,856 		JBrowse link
G Txnip thioredoxin interacting protein ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar PMID:17236129 PMID:22366785 PMID:22581968 PMID:24220582 PMID:26233629 More... NCBI chr 3:96,465,273...96,469,173
Ensembl chr 3:96,465,273...96,469,199 		JBrowse link
Thrombocytopenic Purpura term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gp9 glycoprotein 9 platelet ISO RGD PMID:23103637 RGD:11040532 NCBI chr 6:87,753,115...87,756,768
Ensembl chr 6:87,755,054...87,756,750 		JBrowse link
G Itga2b integrin alpha 2b IDA RGD PMID:11493456 RGD:2316362 NCBI chr11:102,344,134...102,360,570
Ensembl chr11:102,344,123...102,360,948 		JBrowse link
G Itgb3 integrin beta 3 IMP
ISO		 associated with HIV Infections RGD PMID:11493456 PMID:8565280 RGD:2316362, RGD:10755471 NCBI chr11:104,498,826...104,561,302
Ensembl chr11:104,498,826...104,561,302 		JBrowse link
G Vwf Von Willebrand factor ISO RGD PMID:14727254 RGD:1580644 NCBI chr 6:125,529,911...125,663,642
Ensembl chr 6:125,523,737...125,663,642 		JBrowse link
thrombocytosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Calr calreticulin ISO human gene in a mouse model;DNA:deletion, insertion:cds:c.1179_1230del, c.1234_1235insTTGTC (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:26608331 RGD:11352752 NCBI chr 8:85,568,717...85,573,560
Ensembl chr 8:85,568,479...85,573,563 		JBrowse link
G Cpb2 carboxypeptidase B2 ISO RGD PMID:16244771 RGD:1598473 NCBI chr14:75,479,727...75,520,995
Ensembl chr14:75,479,727...75,520,995 		JBrowse link
G Epor erythropoietin receptor IMP RGD PMID:8400289 RGD:11041647 NCBI chr 9:21,870,193...21,874,915
Ensembl chr 9:21,870,193...21,874,802 		JBrowse link
G Il1b interleukin 1 beta ISO RGD PMID:2265245 RGD:10450885 NCBI chr 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059 		JBrowse link
G Jak2 Janus kinase 2 ISO
IAGP		 essential thrombocythemia, OMIM:187950
associated with Budd-Chiari syndrome;DNA:missense mutation:cds:p.V617F
CTD Direct Evidence: marker/mechanism
DNA:point mutations: :p.S755R, p.R938Q (human)		 CTD
RGD		 PMID:19287382 PMID:19287384 PMID:15781101 PMID:22467227 PMID:24398328 RGD:1627655, RGD:15039391, RGD:10449375 NCBI chr19:29,229,006...29,290,495
Ensembl chr19:29,229,228...29,290,480 		JBrowse link
G Mpl myeloproliferative leukemia virus oncogene ISO DNA:mutation:cds:c.317C > T,p.P106L(human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:15813844 PMID:16484586 PMID:19036112 RGD:11073684 NCBI chr 4:118,299,609...118,314,771
Ensembl chr 4:118,299,612...118,314,710 		JBrowse link
G Pcdha1 protocadherin alpha 1 ISO ClinVar Annotator: match by term: Thrombocytosis ClinVar PMID:25741868 NCBI chr18:37,063,338...37,320,710
Ensembl chr18:37,063,237...37,320,714 		JBrowse link
G Pcdha2 protocadherin alpha 2 ISO ClinVar Annotator: match by term: Thrombocytosis ClinVar PMID:25741868 NCBI chr18:37,072,258...37,320,714
Ensembl chr18:37,072,258...37,320,710 		JBrowse link
G Pcdha3 protocadherin alpha 3 ISO ClinVar Annotator: match by term: Thrombocytosis ClinVar PMID:25741868 NCBI chr18:37,079,141...37,320,716
Ensembl chr18:37,079,158...37,320,710 		JBrowse link
G Pcdha4 protocadherin alpha 4 ISO ClinVar Annotator: match by term: Thrombocytosis ClinVar PMID:25741868 NCBI chr18:37,085,742...37,320,710
Ensembl chr18:37,085,701...37,320,714 		JBrowse link
G Pcdha5 protocadherin alpha 5 ISO ClinVar Annotator: match by term: Thrombocytosis ClinVar PMID:25741868 NCBI chr18:37,093,329...37,320,716
Ensembl chr18:37,093,493...37,320,710 		JBrowse link
G Pcdha6 protocadherin alpha 6 ISO ClinVar Annotator: match by term: Thrombocytosis ClinVar PMID:25741868 NCBI chr18:37,100,678...37,321,950
Ensembl chr18:37,100,684...37,320,710 		JBrowse link
G Pcdha7 protocadherin alpha 7 ISO ClinVar Annotator: match by term: Thrombocytosis ClinVar PMID:25741868 NCBI chr18:37,106,864...37,320,716
Ensembl chr18:37,106,855...37,320,710 		JBrowse link
G Pcdha8 protocadherin alpha 8 ISO ClinVar Annotator: match by term: Thrombocytosis ClinVar PMID:25741868 NCBI chr18:37,125,520...37,320,710
Ensembl chr18:37,125,424...37,320,710 		JBrowse link
G Pcdha9 protocadherin alpha 9 ISO ClinVar Annotator: match by term: Thrombocytosis ClinVar PMID:25741868 NCBI chr18:37,130,933...37,320,710
Ensembl chr18:37,130,933...37,320,710 		JBrowse link
G Sh2b3 SH2B adaptor protein 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:121,953,544...121,975,706
Ensembl chr 5:121,953,551...121,975,709 		JBrowse link
G Thpo thrombopoietin susceptibility ISO DNA:deletion:5' utr
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:15813844 PMID:33122006 PMID:9694695 RGD:1601655 NCBI chr16:20,543,204...20,553,261
Ensembl chr16:20,543,204...20,553,261 		JBrowse link
Thrombocytosis, Benign Familial Microcytic term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mpl myeloproliferative leukemia virus oncogene ISO ClinVar Annotator: match by term: Thrombocytosis, benign familial microcytic ClinVar PMID:8073287 PMID:11133753 PMID:16199547 PMID:16470591 PMID:18090929 More... NCBI chr 4:118,299,609...118,314,771
Ensembl chr 4:118,299,612...118,314,710 		JBrowse link
Thrombotic Microangiopathies 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:14625834 PMID:16388419 NCBI chr 2:26,863,363...26,899,638
Ensembl chr 2:26,863,428...26,899,640 		JBrowse link
G Atrip ATR interacting protein ISO ClinVar Annotator: match by term: Thrombotic microangiopathy ClinVar PMID:29941221 NCBI chr 9:108,888,815...108,903,192
Ensembl chr 9:108,887,001...108,903,192 		JBrowse link
G C3 complement component 3 treatment ISO RGD PMID:11532096 RGD:5129554 NCBI chr17:57,510,967...57,535,136
Ensembl chr17:57,510,970...57,535,136 		JBrowse link
G Cd46 CD46 antigen, complement regulatory protein ISO ClinVar Annotator: match by term: Thrombotic microangiopathy ClinVar PMID:16199547 PMID:16621965 PMID:16762990 PMID:23431077 PMID:23519521 More... NCBI chr 1:194,721,279...194,781,149
Ensembl chr 1:194,719,134...194,774,557 		JBrowse link
G Cfh complement component factor h ISO associated with Kidney Failure, Chronic;DNA:missense mutations:exon:p.N516K (c.1548T>A), p.Q950H (c.2850G>T), p.K1186H (c.3557A>C) (human)
ClinVar Annotator: match by term: Thrombotic microangiopathy		 ClinVar
RGD		 PMID:25741868 PMID:26283675 PMID:28492532 PMID:34912830 PMID:18557729 RGD:11041165 NCBI chr 1:140,013,593...140,111,149
Ensembl chr 1:140,012,446...140,111,502 		JBrowse link
G Cfi complement component factor i ISO associated with Kidney Failure, Chronic;DNA:missense mutations, splice-site mutation:exon:multiple
ClinVar Annotator: match by term: Thrombotic microangiopathy		 ClinVar
RGD		 PMID:25741868 PMID:28492532 PMID:18557729 RGD:11041165 NCBI chr 3:129,630,432...129,668,978
Ensembl chr 3:129,629,533...129,668,981 		JBrowse link
G Cpb2 carboxypeptidase B2 ISO DNA:polymorphism: ;1542C>G(human) RGD PMID:17327284 RGD:7243121 NCBI chr14:75,479,727...75,520,995
Ensembl chr14:75,479,727...75,520,995 		JBrowse link
G F3 coagulation factor III ISO RGD PMID:19535796 RGD:11341690 NCBI chr 3:121,517,186...121,528,701
Ensembl chr 3:121,517,186...121,528,697 		JBrowse link
G Fgg fibrinogen gamma chain ISO RGD PMID:17038160 RGD:11352673 NCBI chr 3:82,915,031...82,922,363
Ensembl chr 3:82,915,031...82,922,356 		JBrowse link
G Gm53191 predicted gene, 53191 ISO ClinVar Annotator: match by term: Thrombotic microangiopathy ClinVar PMID:29941221 NCBI chr 9:108,887,001...108,903,165
Ensembl chr 9:108,887,001...108,903,192 		JBrowse link
G Gp6 glycoprotein 6 platelet ISO protein:increased expression:plasma (human) RGD PMID:24325877 RGD:401794444 NCBI chr 7:4,365,852...4,400,849
Ensembl chr 7:4,366,964...4,400,743 		JBrowse link
G Itgb3 integrin beta 3 ISO associated with Chronic Allograft Dysfunction;protein:increased expression:arteriole RGD PMID:18234279 RGD:10755463 NCBI chr11:104,498,826...104,561,302
Ensembl chr11:104,498,826...104,561,302 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility ISO DNA:transition:cds:g.677C>T (human) RGD PMID:19448163 RGD:6893633 NCBI chr 4:148,123,534...148,144,019
Ensembl chr 4:148,123,534...148,144,008 		JBrowse link
G Nos2 nitric oxide synthase 2, inducible ISO protein:Increased expression:kidney:neutrophil, endothelial cell, kidney: RGD PMID:10908153 RGD:11533936 NCBI chr11:78,811,613...78,851,052
Ensembl chr11:78,811,613...78,851,080 		JBrowse link
G Nos3 nitric oxide synthase 3, endothelial cell ISO protein:decreased expression:kidney: RGD PMID:10908153 RGD:11533936 NCBI chr 5:24,569,772...24,589,472
Ensembl chr 5:24,569,808...24,589,472 		JBrowse link
G Trex1 three prime repair exonuclease 1 ISO ClinVar Annotator: match by term: Thrombotic microangiopathy ClinVar PMID:29941221 NCBI chr 9:108,887,000...108,888,791
Ensembl chr 9:108,887,001...108,888,802 		JBrowse link
G Vegfa vascular endothelial growth factor A ISO CTD Direct Evidence: marker/mechanism CTD PMID:22808199 NCBI chr17:46,327,919...46,343,303
Ensembl chr17:46,327,919...46,343,295 		JBrowse link
G Vwf Von Willebrand factor disease_progression ISO
IGI		 protein:increased expression:plasma RGD PMID:21153061 PMID:20439183 RGD:7205650, RGD:7207026 NCBI chr 6:125,529,911...125,663,642
Ensembl chr 6:125,523,737...125,663,642 		JBrowse link
thrombotic 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
IMP		 ClinVar Annotator: match by term: ADAMTS13-related condition | ClinVar Annotator: match by term: Thrombotic thrombocytopenic purpura | ClinVar Annotator: match by term: Upshaw-Schulman syndrome
CTD Direct Evidence: marker/mechanism
Adult Onset Purpura, Thrombotic Thrombocytopenic;DNA:missense mutation:cds:p.R1060W (human)
DNA:mutations:multiple (human)
protein:decreased activity:plasma (human)		 OMIM
ClinVar
CTD
RGD		 PMID:1787257 PMID:6433703 PMID:7094941 PMID:9536098 PMID:11563771 More... RGD:10449043, RGD:1598736, RGD:10449037, RGD:10449028 NCBI chr 2:26,863,363...26,899,638
Ensembl chr 2:26,863,428...26,899,640 		JBrowse link
G Cd36 CD36 molecule ISO RGD PMID:7529543 RGD:11041104 NCBI chr 5:17,986,680...18,093,828
Ensembl chr 5:17,986,688...18,093,799 		JBrowse link
G F3 coagulation factor III ISO CTD Direct Evidence: marker/mechanism CTD PMID:7740478 NCBI chr 3:121,517,186...121,528,701
Ensembl chr 3:121,517,186...121,528,697 		JBrowse link
G H2-Ab1 histocompatibility 2, class II antigen A, beta 1 ISO DNA:polymorphisms:cds:HLA-DQB1*0301 (human) RGD PMID:19922436 RGD:11041754 NCBI chr17:34,482,201...34,488,392
Ensembl chr17:34,476,663...34,488,393 		JBrowse link
G Proc protein C ISO RGD PMID:10936861 RGD:11100014 NCBI chr18:32,256,179...32,272,623
Ensembl chr18:32,256,179...32,272,623 		JBrowse link
G Tfpi tissue factor pathway inhibitor treatment ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:7740478 PMID:7740478 RGD:11340214 NCBI chr 2:84,263,199...84,307,119
Ensembl chr 2:84,263,199...84,307,119 		JBrowse link
G Thbd thrombomodulin ISO CTD Direct Evidence: marker/mechanism CTD PMID:7740478 NCBI chr 2:148,246,391...148,250,108
Ensembl chr 2:148,246,386...148,250,108 		JBrowse link
Thrombotic Thrombocytopenic Purpura, Acquired 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 treatment ISO human protein in a rat model RGD PMID:9828246 PMID:26338302 RGD:10449039, RGD:10449097 NCBI chr 2:26,863,363...26,899,638
Ensembl chr 2:26,863,428...26,899,640 		JBrowse link
G Vwf Von Willebrand factor treatment ISO RGD PMID:26863353 RGD:11079195 NCBI chr 6:125,529,911...125,663,642
Ensembl chr 6:125,523,737...125,663,642 		JBrowse link
vascular type Ehlers-Danlos syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col3a1 collagen, type III, alpha 1 IAGP
ISO		 OMIM:130050
ClinVar Annotator: match by term: COL3A1-related condition | ClinVar Annotator: match by term: Ehlers Danlos syndrome, Sack-Barabas type | ClinVar Annotator: match by term: Ehlers Danlos syndrome, arterial type | ClinVar Annotator: match by term: Ehlers Danlos syndrome, ecchymotic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome vascular type		 MouseDO
ClinVar
OMIM		 PMID:1352273 PMID:1556139 PMID:1939638 PMID:2049575 PMID:2235526 More... NCBI chr 1:45,350,698...45,388,866
Ensembl chr 1:45,350,698...45,388,866 		JBrowse link
vitamin K deficiency bleeding term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bglap bone gamma carboxyglutamate protein ISO RGD PMID:16869104 RGD:6483568 NCBI chr 3:88,290,802...88,291,773
Ensembl chr 3:88,290,808...88,291,771 		JBrowse link
G Ggcx gamma-glutamyl carboxylase no_association ISO RGD PMID:11154138 RGD:11040513 NCBI chr 6:72,391,262...72,407,696
Ensembl chr 6:72,391,291...72,407,695 		JBrowse link
Von Willebrand Factor, Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mcfd2 multiple coagulation factor deficiency 2 ISO ClinVar Annotator: match by term: Reduced von Willebrand factor activity ClinVar PMID:32581362 NCBI chr17:87,561,871...87,573,382
Ensembl chr17:87,561,871...87,573,363 		JBrowse link
G Vwf Von Willebrand factor ISO ClinVar Annotator: match by term: Reduced von Willebrand factor activity ClinVar PMID:3257148 PMID:8456430 PMID:9253800 PMID:10669167 PMID:11756169 More... NCBI chr 6:125,529,911...125,663,642
Ensembl chr 6:125,523,737...125,663,642 		JBrowse link
von Willebrand's disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F3 coagulation factor III ISO RGD PMID:4546024 RGD:11341671 NCBI chr 3:121,517,186...121,528,701
Ensembl chr 3:121,517,186...121,528,697 		JBrowse link
G Vwf Von Willebrand factor treatment ISO
IAGP		 ClinVar Annotator: match by term: Hereditary von Willebrand disease | ClinVar Annotator: match by term: Von Willebrand disease, recessive form | ClinVar Annotator: match by term: von Willebrand disorder ClinVar
MouseDO
RGD		 PMID:1301136 PMID:1302613 PMID:1324533 PMID:1380739 PMID:1415226 More... RGD:1331525, RGD:11079196 NCBI chr 6:125,529,911...125,663,642
Ensembl chr 6:125,523,737...125,663,642 		JBrowse link
von Willebrand's disease 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Itga2 integrin alpha 2 severity
no_association		 ISO DNA:SNP: :807C>T (human) RGD PMID:15226188 PMID:14652648 RGD:10766468, RGD:11530070 NCBI chr13:114,969,617...115,068,588
Ensembl chr13:114,969,617...115,068,636 		JBrowse link
G Itga2b integrin alpha 2b severity ISO DNA:haplotype:cds: RGD PMID:15226188 RGD:10766468 NCBI chr11:102,344,134...102,360,570
Ensembl chr11:102,344,123...102,360,948 		JBrowse link
G Plat plasminogen activator, tissue treatment ISO RGD PMID:1419807 RGD:11552591 NCBI chr 8:23,247,655...23,272,864
Ensembl chr 8:23,247,743...23,272,860 		JBrowse link
G Silc1 sciatic injury induced lincRNA upregulator of SOX11 ISO ClinVar Annotator: match by term: von Willebrand disease type 1 ClinVar PMID:25741868 PMID:34355501 NCBI chr12:27,190,795...27,210,515
Ensembl chr12:27,100,949...27,210,632 		JBrowse link
G Vwf Von Willebrand factor ISO ClinVar Annotator: match by term: VWD, TYPE 1 | ClinVar Annotator: match by term: von Willebrand disease type 1 | ClinVar Annotator: match by term: von Willebrand disease, type 1, susceptibility to
CTD Direct Evidence: marker/mechanism
protein:decreased expression:plasma
DNA:mutation:exon:p.C386R(human)		 OMIM
ClinVar
CTD
RGD		 PMID:1301136 PMID:1302613 PMID:1373334 PMID:1415226 PMID:1581215 More... RGD:10766468, RGD:11079205 NCBI chr 6:125,529,911...125,663,642
Ensembl chr 6:125,523,737...125,663,642 		JBrowse link
von Willebrand's disease 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F8 coagulation factor VIII ISO protein:decreased expression:plasma RGD PMID:16409463 RGD:10766469 NCBI chr  X:74,213,950...74,426,342
Ensembl chr  X:74,216,321...74,426,221 		JBrowse link
G Itga2 integrin alpha 2 severity ISO DNA:haplotype:promoter: RGD PMID:16409463 RGD:10766469 NCBI chr13:114,969,617...115,068,588
Ensembl chr13:114,969,617...115,068,636 		JBrowse link
G Itga2b integrin alpha 2b no_association ISO DNA:haplotype:: RGD PMID:16409463 RGD:10766469 NCBI chr11:102,344,134...102,360,570
Ensembl chr11:102,344,123...102,360,948 		JBrowse link
G Vwf Von Willebrand factor treatment ISO
IAGP
IMP		 ClinVar Annotator: match by term: VWD, TYPE 2 | ClinVar Annotator: match by term: Von Willebrand disease type 2A | ClinVar Annotator: match by term: Von Willebrand disease type 2B | ClinVar Annotator: match by term: von Willebrand disease type 2 | ClinVar Annotator: match by term: von Willebrand disease type 2M | ClinVar Annotator: match by term: von Willebrand disease type 2N
CTD Direct Evidence: marker/mechanism
OMIM:613554
protein:decreased expression:plasma
DNA:deletion:cds:del K 1405-1408(human)
p. R1306Q,V1316M(mouse)
DNA:missense mutation:cds:p.M1304R(human)		 OMIM
ClinVar
CTD
MouseDO
RGD		 PMID:1324533 PMID:1373334 PMID:1380739 PMID:1409710 PMID:1415226 More... RGD:10766469, RGD:11079206, RGD:11079203, RGD:11079202, RGD:11079201, RGD:11079200 NCBI chr 6:125,529,911...125,663,642
Ensembl chr 6:125,523,737...125,663,642 		JBrowse link
von Willebrand's disease 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vwf Von Willebrand factor ISO ClinVar Annotator: match by term: VON WILLEBRAND DISEASE, TYPE III | ClinVar Annotator: match by term: von Willebrand disease type 3
CTD Direct Evidence: marker/mechanism
DNA:deletions:exons:		 OMIM
ClinVar
CTD
RGD		 PMID:1301136 PMID:1302613 PMID:1415226 PMID:1581215 PMID:1832934 More... RGD:11079204 NCBI chr 6:125,529,911...125,663,642
Ensembl chr 6:125,523,737...125,663,642 		JBrowse link
Wiskott-Aldrich syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxp3 forkhead box P3 IAGP OMIM:301000 | OMIM:614493 MouseDO NCBI chr  X:7,445,915...7,461,482
Ensembl chr  X:7,439,883...7,461,484 		JBrowse link
G Was Wiskott-Aldrich syndrome ISO
IAGP		 ClinVar Annotator: match by term: Aldrich syndrome | ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1 | ClinVar Annotator: match by term: Wiskott-Aldrich syndrome | ClinVar Annotator: match by term: Wiskott-Aldrich syndrome, attenuated
OMIM:301000 | OMIM:614493
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:2906042 PMID:3284030 PMID:7579329 PMID:7579347 PMID:7735919 More... RGD:1599803 NCBI chr  X:7,947,705...7,956,730
Ensembl chr  X:7,947,692...7,956,737 		JBrowse link
G Washc4 WASH complex subunit 4 IAGP OMIM:301000 MouseDO NCBI chr10:83,379,073...83,432,350
Ensembl chr10:83,379,616...83,432,337 		JBrowse link
G Wipf1 WAS/WASL interacting protein family, member 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:73,259,954...73,359,831
Ensembl chr 2:73,259,954...73,360,078 		JBrowse link
G Wrn Werner syndrome RecQ like helicase ISO ClinVar Annotator: match by term: Wiskott-Aldrich syndrome ClinVar PMID:10069711 PMID:10220139 PMID:16786514 PMID:18414213 PMID:19824023 More... NCBI chr 8:33,724,400...33,875,591
Ensembl chr 8:33,724,412...33,875,555 		JBrowse link
Wiskott-Aldrich Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chrna1 cholinergic receptor nicotinic alpha 1 subunit ISO ClinVar Annotator: match by term: Wiskott-Aldrich syndrome 2 ClinVar PMID:28492532 NCBI chr 2:73,393,625...73,410,682
Ensembl chr 2:73,393,559...73,410,682 		JBrowse link
G Wipf1 WAS/WASL interacting protein family, member 1 ISO ClinVar Annotator: match by term: Wiskott-Aldrich syndrome 2 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:22231303 PMID:24033266 PMID:25741868 More... NCBI chr 2:73,259,954...73,359,831
Ensembl chr 2:73,259,954...73,360,078 		JBrowse link
X-linked cardiac valvular dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Flna filamin, alpha ISO ClinVar Annotator: match by term: Cardiac valvular dysplasia, X-linked | ClinVar Annotator: match by term: Myxomatous valvular dystrophy, X-linked
CTD Direct Evidence: marker/mechanism
DNA:missense mutations, deletion:cds, exons, introns:multiple (human)		 OMIM
ClinVar
CTD
RGD		 PMID:240645 PMID:1854572 PMID:8230166 PMID:9497244 PMID:9536098 More... RGD:11565121 NCBI chr  X:73,267,067...73,293,787
Ensembl chr  X:73,267,067...73,293,426 		JBrowse link
X-linked dyserythropoietic anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gata1 GATA binding protein 1 ISO ClinVar Annotator: match by term: ANEMIA, X-LINKED, WITH OR WITHOUT NEUTROPENIA AND/OR PLATELET ABNORMALITIES
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:871527 PMID:12200364 PMID:14691578 PMID:15895080 PMID:16783379 More... NCBI chr  X:7,825,504...7,842,844
Ensembl chr  X:7,825,499...7,844,310 		JBrowse link
X-linked thrombocytopenia with beta-thalassemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gata1 GATA binding protein 1 ISO ClinVar Annotator: match by term: Beta-thalassemia-X-linked thrombocytopenia syndrome | ClinVar Annotator: match by term: Thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:871527 PMID:12200364 PMID:14691578 PMID:16783379 PMID:17148589 More... NCBI chr  X:7,825,504...7,842,844
Ensembl chr  X:7,825,499...7,844,310 		JBrowse link
X-Linked Thrombocytopenia, Intermittent term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Was Wiskott-Aldrich syndrome ISO ClinVar Annotator: match by term: Thrombocytopenia, X-linked, intermittent ClinVar PMID:11877312 NCBI chr  X:7,947,705...7,956,730
Ensembl chr  X:7,947,692...7,956,737 		JBrowse link
X-Linked Thrombocytopenia, with or without Dyserythropoietic Anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gata1 GATA binding protein 1 ISO ClinVar Annotator: match by term: GATA1-Related X-Linked Cytopenia | ClinVar Annotator: match by term: Thrombocytopenia, X-linked, with or without dyserythropoietic anemia | ClinVar Annotator: match by term: Thrombocytopenia, X-linked, without dyserythropoietic anemia
CTD Direct Evidence: marker/mechanism
DNA:missense mutation: :p.G208S, [622G>T;623G>C] (human)
DNA:missense mutation: :p.D218G, 653A>G (human)
DNA:missense mutation: :p.M205V, 613G>A (human)		 OMIM
ClinVar
CTD
RGD		 PMID:871527 PMID:3164080 PMID:10700180 PMID:11418466 PMID:11809723 More... RGD:10450749, RGD:10450743, RGD:10450740 NCBI chr  X:7,825,504...7,842,844
Ensembl chr  X:7,825,499...7,844,310 		JBrowse link
G Zrsr2 zinc finger (CCCH type), RNA binding motif and serine/arginine rich 2 ISO DNA:missense mutation:multiple (human) RGD PMID:28942350 RGD:151232291 NCBI chr  X:162,719,268...162,741,662
Ensembl chr  X:162,718,439...162,741,657 		JBrowse link
XEROSIS AND GROWTH FAILURE WITH IMMUNE AND PULMONARY DYSFUNCTION SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dbr1 debranching RNA lariats 1 susceptibility ISO ClinVar Annotator: match by term: Xerosis and growth failure with immune and pulmonary dysfunction syndrome ClinVar
OMIM		 PMID:25741868 PMID:37656279 NCBI chr 9:99,457,839...99,467,060
Ensembl chr 9:99,457,852...99,466,554 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16121
    disease of anatomical entity 15680
      hematopoietic system disease 3277
        blood coagulation disease 947
          hemorrhagic disease 901
            Familial Hemorrhagic Diathesis due to Antithrombin 0
            Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Cataracts 1
            Plasminogen Activator Inhibitor-1 Deficiency 6
            Waterhouse-Friderichsen syndrome + 0
            Wiskott-Aldrich syndrome + 6
            alpha-2-plasmin inhibitor deficiency 1
            blood platelet disease + 366
            congenital afibrinogenemia + 5
            disseminated intravascular coagulation + 18
            factor V deficiency + 5
            factor VII deficiency 2
            factor VIII deficiency + 25
            factor X deficiency 40
            factor XI deficiency 10
            factor XII deficiency 2
            factor XIII deficiency + 3
            hemophilia B 7
            prothrombin deficiency + 2
            purpura + 57
            vascular hemostatic disease + 483
            vitamin K deficiency bleeding 2
            von Willebrand's disease + 9
Path 2
Term Annotations click to browse term
  disease 16121
    disease of anatomical entity 15680
      Hemic and Lymphatic Diseases 3781
        hematopoietic system disease 3277
          blood coagulation disease 947
            hemorrhagic disease 901
              Familial Hemorrhagic Diathesis due to Antithrombin 0
              Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Cataracts 1
              Plasminogen Activator Inhibitor-1 Deficiency 6
              Waterhouse-Friderichsen syndrome + 0
              Wiskott-Aldrich syndrome + 6
              alpha-2-plasmin inhibitor deficiency 1
              blood platelet disease + 366
              congenital afibrinogenemia + 5
              disseminated intravascular coagulation + 18
              factor V deficiency + 5
              factor VII deficiency 2
              factor VIII deficiency + 25
              factor X deficiency 40
              factor XI deficiency 10
              factor XII deficiency 2
              factor XIII deficiency + 3
              hemophilia B 7
              prothrombin deficiency + 2
              purpura + 57
              vascular hemostatic disease + 483
              vitamin K deficiency bleeding 2
              von Willebrand's disease + 9
paths to the root