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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:thrombocytopenia
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Accession:DOID:1588 term browser browse the term
Definition:A blood platelet disease that is characterized by low a platelet count in the blood. (DO)
Synonyms:exact_synonym: thrombocytopenias;   thrombopenia;   thrombopenias
 narrow_synonym: DHX34-ASSOCIATED THROMBOCYTOPENIA
 related_synonym: PREDISPOSITION TO THROMBOCYTOPENIA
 primary_id: MESH:D013921
 xref: ICD10CM:D69.6;   ICD9CM:287.5;   MIM:PS313900;   MIM:PS613112;   ORDO:852
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
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:24503134 PMID:25741868 PMID:28492532 PMID:31064749 PMID:32088153 More... NCBI chr 6:15,717,936...15,743,376
Ensembl chr 6:15,717,936...15,743,376 		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 chr 6:15,698,448...15,717,730
Ensembl chr 6:15,698,448...15,717,730 		JBrowse link
G Acbd5 acyl-CoA binding domain containing 5 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:25741868 PMID:28492532 NCBI chr17:90,114,250...90,156,286
Ensembl chr17:90,114,375...90,156,286 		JBrowse link
G Actb actin, beta ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:10411937 PMID:25255767 PMID:25741868 PMID:30315159 NCBI chr12:16,776,664...16,779,634
Ensembl chr12:16,776,661...16,780,242 		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 chr 6:104,731,485...104,826,312
Ensembl chr 6:104,731,485...104,826,172 		JBrowse link
G Acvrl1 activin A receptor like type 1 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:20501893 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 7:134,117,917...134,135,306
Ensembl chr 7:134,118,024...134,135,305 		JBrowse link
G Alb albumin ISO CTD Direct Evidence: marker/mechanism CTD PMID:6734075 NCBI chr14:17,891,564...17,907,043
Ensembl chr14:17,891,582...17,911,865 		JBrowse link
G Ankrd26 ankyrin repeat domain containing 26 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:10521306 PMID:20626622 PMID:21211618 PMID:21270786 PMID:21467542 More... NCBI chr 4:153,342,901...153,412,321
Ensembl chr 4:153,343,578...153,412,256 		JBrowse link
G Ap3b1 adaptor related protein complex 3 subunit beta 1 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:25741868 PMID:28492532 PMID:32935436 NCBI chr 2:27,331,241...27,535,683
Ensembl chr 2:27,334,900...27,537,702 		JBrowse link
G Aspg asparaginase ISO CTD Direct Evidence: marker/mechanism CTD PMID:2187653 NCBI chr 6:136,997,832...137,017,417
Ensembl chr 6:136,998,023...137,017,417 		JBrowse link
G Brip1 BRCA1 interacting DNA helicase 1 ISO human gene in a mouse model RGD PMID:15613547 RGD:11252148 NCBI chr10:71,402,035...71,528,083
Ensembl chr10:71,401,151...71,575,206 		JBrowse link
G Cbr1 carbonyl reductase 1 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:32581362 NCBI chr11:46,346,405...46,348,815
Ensembl chr11:46,378,411...46,381,104
Ensembl chr11:46,378,411...46,381,104 		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 chr10:67,503,077...67,504,875
Ensembl chr10:67,503,077...67,504,875 		JBrowse link
G Cd40lg CD40 ligand treatment ISO associated with Malaria RGD PMID:11865192 RGD:11352243 NCBI chr  X:140,164,341...140,176,057
Ensembl chr  X:140,164,302...140,176,475 		JBrowse link
G Clic6 chloride intracellular channel 6 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:32581362 NCBI chr11:45,223,715...45,266,261
Ensembl chr11:45,223,669...45,267,344 		JBrowse link
G Col5a1 collagen type V alpha 1 chain ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:28492532 PMID:29924831 NCBI chr 3:31,606,475...31,755,097
Ensembl chr 3:31,606,486...31,753,020 		JBrowse link
G Col5a2 collagen type V alpha 2 chain ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:54,940,768...55,090,151
Ensembl chr 9:54,940,764...55,090,150 		JBrowse link
G Csf2 colony stimulating factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8297739 NCBI chr10:38,887,692...38,889,673
Ensembl chr10:38,887,692...38,890,031 		JBrowse link
G Csf3 colony stimulating factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:7543699 PMID:12085204 NCBI chr10:84,157,485...84,159,860
Ensembl chr10:84,157,211...84,159,860 		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 4:80,982,667...80,984,767
Ensembl chr 4:80,982,668...80,984,816
Ensembl chr18:80,982,668...80,984,816 		JBrowse link
G Dhx34 DExH-box helicase 34 ISO ClinVar Annotator: match by term: Predisposition to thrombocytopenia ClinVar NCBI chr 1:86,009,047...86,034,477
Ensembl chr 1:86,008,388...86,033,293 		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 chr 6:15,745,350...15,778,166
Ensembl chr 6:15,745,350...15,778,166 		JBrowse link
G Epo erythropoietin ISO CTD Direct Evidence: therapeutic CTD PMID:8260696 NCBI chr12:24,841,285...24,844,725
Ensembl chr12:24,841,285...24,844,725 		JBrowse link
G Etv6 ETS variant transcription factor 6 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Thrombocytopenia 		CTD
ClinVar		 PMID:9694803 PMID:15806161 PMID:18305557 PMID:21680795 PMID:21714648 More... NCBI chr 4:168,580,405...168,819,817
Ensembl chr 4:168,580,138...168,819,802 		JBrowse link
G F10 coagulation factor X ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:25741868 NCBI chr16:83,170,973...83,190,280
Ensembl chr16:83,170,977...83,190,280 		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 chr16:53,720,502...53,741,547
Ensembl chr16:53,718,621...53,740,941 		JBrowse link
G F5 coagulation factor V ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:25741868 PMID:28492532 PMID:34355501 NCBI chr13:79,046,657...79,116,247
Ensembl chr13:79,046,448...79,116,247 		JBrowse link
G F7 coagulation factor VII treatment ISO human protein in a rat model RGD PMID:19175492 RGD:11049531 NCBI chr16:83,191,896...83,202,775
Ensembl chr16:83,191,914...83,202,738 		JBrowse link
G Fcgr2a Fc gamma receptor 2A ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:11588041 PMID:10201963 RGD:11040944 NCBI chr13:85,813,516...85,830,269
Ensembl chr13:85,855,437...85,864,394
Ensembl chr13:85,855,437...85,864,394 		JBrowse link
G Fga fibrinogen alpha chain treatment IMP
ISO 		ClinVar Annotator: match by term: Thrombocytopenia ClinVar
RGD		 PMID:28492532 PMID:2005585 RGD:10755505 NCBI chr 2:170,672,169...170,679,572
Ensembl chr 2:170,672,012...170,679,577 		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 2:170,693,966...170,700,875
Ensembl chr 2:170,692,965...170,705,434 		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 2:170,652,929...170,660,372
Ensembl chr 2:170,652,234...170,661,170 		JBrowse link
G Fli1 Fli-1 proto-oncogene, ETS transcription factor ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar
RGD		 PMID:24100448 PMID:32581362 PMID:15232614 RGD:1582490 NCBI chr 8:39,089,526...39,209,511
Ensembl chr 8:39,089,533...39,208,557 		JBrowse link
G Flna filamin A ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:18414213 PMID:21836662 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr  X:157,159,051...157,185,559
Ensembl chr  X:157,159,051...157,182,343 		JBrowse link
G Gata1 GATA binding protein 1 ISO
ISS 		ClinVar Annotator: match by term: Thrombocytopenia
OMIM:188000 | OMIM:273900 | OMIM:300367 | OMIM:313900 | OMIM:612004
CTD Direct Evidence: marker/mechanism 		ClinVar
MouseDO
CTD
RGD		 PMID:11418466 PMID:11809723 PMID:12483298 PMID:16966598 PMID:20301538 More... RGD:10450735 NCBI chr  X:17,193,291...17,209,462
Ensembl chr  X:17,201,633...17,209,459 		JBrowse link
G Gba1 glucosylceramidase beta 1 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:1348297 PMID:1864608 PMID:1897529 PMID:1899336 PMID:1971142 More... NCBI chr 2:176,902,141...176,916,015
Ensembl chr 2:176,907,154...176,916,985 		JBrowse link
G Gfi1b growth factor independent 1B transcriptional repressor ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:25741868 PMID:31064749 NCBI chr 3:32,338,213...32,350,963
Ensembl chr 3:32,338,214...32,350,916 		JBrowse link
G Ggcx gamma-glutamyl carboxylase ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:25741868 PMID:28492532 PMID:32935436 NCBI chr 4:106,027,918...106,043,653
Ensembl chr 4:106,027,912...106,043,923 		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 5:63,062,953...63,103,320
Ensembl chr 5:63,062,850...63,103,251 		JBrowse link
G Gp1ba glycoprotein Ib platelet subunit alpha ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar
RGD		 PMID:7833477 PMID:8384898 PMID:9282797 PMID:19951970 PMID:24934643 More... RGD:10450849 NCBI chr10:55,831,901...55,856,729
Ensembl chr10:55,829,832...55,854,560 		JBrowse link
G Gp1bb glycoprotein Ib platelet subunit beta ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Thrombocytopenia 		CTD
ClinVar		 PMID:10887115 PMID:15213848 PMID:16978236 PMID:24934643 PMID:25741868 More... NCBI chr11:95,882,561...95,883,738 JBrowse link
G Gp9 glycoprotein IX (platelet) ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Thrombocytopenia 		CTD
ClinVar		 PMID:8049428 PMID:8481514 PMID:14510954 PMID:15225244 PMID:16268478 More... NCBI chr 4:121,792,842...121,794,452
Ensembl chr 4:121,792,653...121,794,475 		JBrowse link
G Hps5 HPS5, biogenesis of lysosomal organelles complex 2 subunit 2 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 1:106,417,902...106,457,220
Ensembl chr 1:106,417,902...106,452,859 		JBrowse link
G Ifnl3 interferon, lambda 3 treatment ISO associated with Hepatitis C, Chronic;DNA:SNP: :rs8099917(human) RGD PMID:24304453 RGD:11528555 NCBI chr 1:92,941,988...92,943,628 JBrowse link
G Il10 interleukin 10 severity ISO associated with Malaria, Vivax RGD PMID:25128199 PMID:11091188 RGD:11041893, RGD:11049172 NCBI chr13:45,024,921...45,029,586
Ensembl chr13:45,025,087...45,029,580 		JBrowse link
G Il1b interleukin 1 beta treatment ISO RGD PMID:1331350 RGD:10450883 NCBI chr 3:137,030,200...137,036,581
Ensembl chr 3:137,030,205...137,036,601 		JBrowse link
G Il3 interleukin 3 ISO CTD Direct Evidence: therapeutic CTD PMID:8202718 NCBI chr10:38,906,460...38,908,810
Ensembl chr10:38,906,460...38,908,810 		JBrowse link
G Il6 interleukin 6 severity ISO associated with Malaria, Vivax RGD PMID:25128199 RGD:11041893 NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,889,999...5,894,610 		JBrowse link
G Itga2 integrin subunit alpha 2 ISO associated with Hantavirus Infections;DNA:SNP: :807C>T (rs1126643) (human) RGD PMID:22133274 RGD:11530072 NCBI chr 2:48,253,412...48,354,509
Ensembl chr 2:48,253,412...48,354,509 		JBrowse link
G Itga2b integrin subunit 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 chr10:87,908,697...87,926,225
Ensembl chr10:87,908,697...87,925,833 		JBrowse link
G Itgb3 integrin subunit 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 chr10:90,009,927...90,067,787
Ensembl chr10:90,009,900...90,067,800 		JBrowse link
G Itpa inosine triphosphatase 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 3:138,338,549...138,350,329
Ensembl chr 3:138,338,349...138,350,329 		JBrowse link
G Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:32581362 NCBI chr11:45,066,875...45,080,024
Ensembl chr11:45,064,162...45,081,247 		JBrowse link
G Kcne2 potassium voltage-gated channel subfamily E regulatory subunit 2 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:32581362 NCBI chr11:45,003,468...45,015,942
Ensembl chr11:45,014,406...45,016,168 		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 chr17:90,158,592...90,195,550
Ensembl chr17:90,160,068...90,195,564 		JBrowse link
G Mbl2 mannose binding lectin 2 susceptibility ISO associated with Dengue;DNA:SNP:exon: RGD PMID:18361938 RGD:11530042 NCBI chr 1:237,429,873...237,465,567
Ensembl chr 1:237,429,973...237,437,546 		JBrowse link
G Mcfd2 multiple coagulation factor deficiency 2, ER cargo receptor complex subunit ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:25741868 NCBI chr 6:13,028,036...13,039,388
Ensembl chr 6:13,016,104...13,039,379 		JBrowse link
G Mecom MDS1 and EVI1 complex locus ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:32581362 NCBI chr 2:114,837,815...115,393,052
Ensembl chr 2:114,837,840...115,393,038 		JBrowse link
G Mpl MPL proto-oncogene, thrombopoietin receptor ameliorates ISO
IEP 		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:10971404 PMID:10971406 PMID:11133753 More... RGD:1600454, RGD:126925754, RGD:10449017, RGD:10449011, RGD:10448997 NCBI chr 5:137,259,288...137,281,540
Ensembl chr 5:137,259,288...137,272,177 		JBrowse link
G Mrps6 mitochondrial ribosomal protein S6 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:32581362 NCBI chr11:44,778,667...44,834,420
Ensembl chr11:44,781,554...44,834,962 		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 5:163,748,346...163,768,141
Ensembl chr 5:163,748,321...163,768,105 		JBrowse link
G Myh9 myosin, heavy chain 9 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 chr 7:111,224,291...111,304,963
Ensembl chr 7:111,224,291...111,304,963 		JBrowse link
G Nbeal2 neurobeachin-like 2 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:25741868 PMID:28492532 PMID:32935436 PMID:33161638 NCBI chr 8:119,481,608...119,511,997
Ensembl chr 8:119,481,608...119,514,384 		JBrowse link
G Nsd2 nuclear receptor binding SET domain protein 2 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:25741868 NCBI chr14:81,057,727...81,135,866
Ensembl chr14:81,057,727...81,123,027 		JBrowse link
G P2ry12 purinergic receptor P2Y12 ISO associated with Thrombosis RGD PMID:21652673 RGD:6480523 NCBI chr 2:145,631,487...145,673,194
Ensembl chr 2:145,629,967...145,633,410 		JBrowse link
G Pecam1 platelet and endothelial cell adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10848805 NCBI chr10:92,090,263...92,152,002
Ensembl chr10:92,090,235...92,151,839 		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 chr14:17,582,477...17,583,392
Ensembl chr14:17,582,477...17,583,392 		JBrowse link
G Plcb2 phospholipase C, beta 2 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:25741868 NCBI chr 3:126,134,925...126,158,303
Ensembl chr 3:126,138,736...126,158,221 		JBrowse link
G Plg plasminogen ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:25741868 PMID:28492532 PMID:34355501 NCBI chr 1:50,872,927...50,915,406
Ensembl chr 1:50,872,926...50,917,320 		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 chr12:41,026,079...41,085,577
Ensembl chr12:41,043,785...41,085,577 		JBrowse link
G Rcan1 regulator of calcineurin 1 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:32581362 NCBI chr11:45,108,123...45,188,065
Ensembl chr11:45,108,124...45,118,236 		JBrowse link
G RT1-CE16 RT1 class I, locus CE16 ISO CTD Direct Evidence: marker/mechanism CTD PMID:3459889 NCBI chr20:3,261,656...3,265,548 JBrowse link
G Runx1 RUNX family transcription factor 1 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar
RGD		 PMID:10068652 PMID:10508512 PMID:10973259 PMID:11675361 PMID:11830488 More... RGD:11251691 NCBI chr11:45,325,778...45,560,300
Ensembl chr11:45,329,044...45,564,925 		JBrowse link
G Setd4 SET domain containing 4 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:32581362 NCBI chr11:46,315,340...46,344,024
Ensembl chr11:46,323,895...46,344,024 		JBrowse link
G Slc4a1 solute carrier family 4 member 1 (Diego blood group) ISO mRNA:decreased expression:erythrocyte (mouse) RGD PMID:22279059 RGD:10450520 NCBI chr10:87,807,010...87,823,274
Ensembl chr10:87,807,013...87,823,258 		JBrowse link
G Slc5a3 solute carrier family 5 member 3 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:32581362 NCBI chr11:44,799,787...44,802,233
Ensembl chr11:44,790,297...44,818,157 		JBrowse link
G Smim11 small integral membrane protein 11 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:32581362 NCBI chr11:45,019,269...45,028,926
Ensembl chr11:45,019,239...45,028,921 		JBrowse link
G Sparc secreted protein acidic and cysteine rich ISO CTD Direct Evidence: marker/mechanism CTD PMID:27725143 NCBI chr10:40,017,065...40,038,816
Ensembl chr10:40,017,075...40,039,268 		JBrowse link
G Stxbp2 syntaxin binding protein 2 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:24916509 PMID:25741868 PMID:28492532 PMID:32256442 PMID:32935436 More... NCBI chr12:6,487,265...6,498,351
Ensembl chr12:6,487,297...6,504,212 		JBrowse link
G Tbxa2r thromboxane A2 receptor IMP RGD PMID:2528013 RGD:11059527 NCBI chr 7:9,034,077...9,041,489
Ensembl chr 7:9,034,108...9,038,905 		JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO protein:decreased expression:plasma: RGD PMID:22134166 RGD:11073617 NCBI chr 1:90,324,312...90,340,627
Ensembl chr 1:90,324,046...90,340,899 		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 3:156,316,526...156,320,178
Ensembl chr 3:156,306,632...156,320,582 		JBrowse link
G Thpo thrombopoietin ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:25741868 PMID:28466964 PMID:28559357 PMID:31064749 PMID:32150607 Ensembl chr11:93,686,834...93,693,320 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 chr20:3,626,685...3,629,303
Ensembl chr20:3,626,532...3,629,303 		JBrowse link
G Tnfrsf10b TNF receptor superfamily member 10b ISO CTD Direct Evidence: marker/mechanism CTD PMID:19652058 NCBI chr15:51,249,883...51,278,091
Ensembl chr15:51,250,112...51,278,082 		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 3:183,666,189...183,675,656
Ensembl chr 3:183,666,242...183,674,795 		JBrowse link
G Vps33b VPS33B, late endosome and lysosome associated ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:143,633,167...143,656,228
Ensembl chr 1:143,633,197...143,659,552 		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 4:160,042,900...160,177,757
Ensembl chr 4:160,047,982...160,177,757 		JBrowse link
G Was WASP actin nucleation promoting factor ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:7753869 PMID:8666397 PMID:8757563 PMID:9326235 PMID:11167787 More... NCBI chr  X:17,077,057...17,085,802
Ensembl chr  X:17,073,314...17,085,802 		JBrowse link
G Wdr1 WD repeat domain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17515402 NCBI chr14:76,470,238...76,504,086
Ensembl chr14:76,470,176...76,504,080 		JBrowse link
G Xdh xanthine dehydrogenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:2510358 NCBI chr 6:27,282,319...27,344,022
Ensembl chr 6:27,282,057...27,344,350 		JBrowse link
atypical hemolytic-uremic syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamts13 ADAM metallopeptidase with thrombospondin type 1 motif, 13 ISO protein:decreased activity:serum (human)
ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome 		ClinVar
RGD		 PMID:1787257 PMID:12753286 PMID:17187257 PMID:17627784 PMID:19847791 More... RGD:10449096 NCBI chr 3:30,697,354...30,736,539
Ensembl chr 3:30,697,942...30,736,540 		JBrowse link
G Baat bile acid CoA:amino acid N-acyltransferase ISO ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1 ClinVar PMID:17182750 PMID:20301541 NCBI chr 5:68,647,166...68,656,137
Ensembl chr 5:68,646,203...68,656,181 		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:122,243,736...122,248,217
Ensembl chr  X:122,234,454...122,248,422 		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 chr20:3,944,722...3,975,006
Ensembl chr20:3,955,776...3,981,740 		JBrowse link
G C3 complement C3 ISO 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, 2 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 6 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: CD46-related condition | ClinVar Annotator: match by term: Familial 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
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:1879662 PMID:1976733 PMID:6103091 PMID:7961791 PMID:9536098 More... RGD:7364995, RGD:11040768 NCBI chr 9:2,174,412...2,201,339
Ensembl chr 9:2,174,412...2,201,339 		JBrowse link
G C3ar1 complement C3a receptor 1 ISO ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1 ClinVar NCBI chr 4:157,747,419...157,756,609
Ensembl chr 4:157,746,089...157,776,323 		JBrowse link
G Cd46 CD46 molecule severity
susceptibility 		ISO DNA:mutations:cds:multiple (human)
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: 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: 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: 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 | ClinVar Annotator: match by term: CD46-related condition | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome | ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome | ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome | ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome | ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome | ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome | ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2
CTD Direct Evidence: marker/mechanism
protein:increased expression:peripheral blood mononuclear cell (human)
DNA:snp:intron:c.IVS8+23T>G (rs2724374) (human)
DNA:missense mutations:cds:p.R69W, p.A304V (human) 		ClinVar
OMIM
CTD
RGD		 PMID:270646 PMID:2431077 PMID:3480783 PMID:9536098 PMID:9551389 More... RGD:11038684, RGD:11352810, RGD:11040768, RGD:11352768 NCBI chr13:109,104,122...109,134,903 JBrowse link
G Cep290 centrosomal protein 290 ISO ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:25439097 PMID:25741868 PMID:28224992 PMID:28492532 PMID:29482223 More... NCBI chr 7:37,196,765...37,285,955
Ensembl chr 7:37,196,783...37,285,955 		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, 6 | 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, 4 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome
CTD Direct Evidence: marker/mechanism
DNA:nonsense mutations: :multiple 		OMIM
ClinVar
CTD
RGD		 PMID:1577763 PMID:2249879 PMID:6308626 PMID:7452889 PMID:8181962 More... RGD:7242707, RGD:11040768 NCBI chr20:3,975,271...3,981,138
Ensembl chr20:3,955,776...3,981,740 		JBrowse link
G Cfh complement factor H susceptibility ISO
ISS
IMP 		DNA:missense mutation
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 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: 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: 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: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1 | ClinVar Annotator: match by term: THBD-related condition
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: 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: CD46-related condition | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 6 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 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:deletion:Cds:
DNA:SNPs,Haplotype:: 		OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:646435 PMID:3418956 PMID:8072530 PMID:9536098 PMID:9551389 More... RGD:1599886, RGD:11041172, RGD:11041162, RGD:11040768, RGD:7364995, RGD:7364995, RGD:7364995 NCBI chr13:54,063,079...54,164,523
Ensembl chr13:54,062,531...54,164,532 		JBrowse link
G Cfhr1 complement factor H-related 1 susceptibility ISO DNA:deletion
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
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD
RGD		 PMID:16998489 PMID:17367211 PMID:18006700 PMID:20843825 PMID:25741868 More... RGD:11041162 NCBI chr13:53,946,298...53,961,282
Ensembl chr13:53,919,927...53,961,303 		JBrowse link
G Cfhr4 complement factor H-related 4 ISO ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr13:53,973,301...54,042,179
Ensembl chr13:53,973,301...54,042,179 		JBrowse link
G Cfi complement factor I ISO ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, 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, 3 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4 | 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
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 6 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome 		OMIM
ClinVar
CTD
RGD		 PMID:849647 PMID:8613545 PMID:9536098 PMID:15173250 PMID:15917334 More... RGD:6906889 NCBI chr 2:221,062,206...221,104,790
Ensembl chr 2:221,062,212...221,104,786 		JBrowse link
G Col4a3 collagen type IV alpha 3 chain ISO ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 9:91,323,990...91,453,088
Ensembl chr 9:91,323,990...91,453,077 		JBrowse link
G Col4a4 collagen type IV alpha 4 chain ISO ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:9792860 PMID:11134255 PMID:11685592 PMID:11961012 PMID:12028435 More... NCBI chr 9:91,281,324...91,323,577
Ensembl chr 9:91,203,670...91,323,577 		JBrowse link
G Col4a5 collagen type IV alpha 5 chain ISO ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:7599631 PMID:7695699 PMID:8218237 PMID:8651296 PMID:8940267 More... NCBI chr  X:109,907,251...110,111,214
Ensembl chr  X:109,907,346...110,111,214 		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 chr10:74,348,931...74,374,509
Ensembl chr10:74,350,246...74,374,478 		JBrowse link
G Hbb hemoglobin subunit beta ISO ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:893142 PMID:1726094 PMID:7558877 PMID:25741868 NCBI chr 1:167,662,310...167,663,721
Ensembl chr 1:167,630,245...167,663,873 		JBrowse link
G Lamb2 laminin subunit beta 2 ISO ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:118,056,899...118,069,090
Ensembl chr 8:118,056,935...118,069,090 		JBrowse link
G Mmachc metabolism of cobalamin associated C ISO ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5
ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome 		ClinVar PMID:16311595 PMID:16714133 PMID:17768669 PMID:17853453 PMID:18164228 More... NCBI chr 5:135,403,094...135,409,285
Ensembl chr 5:135,402,404...135,409,235 		JBrowse link
G Myh9 myosin, heavy chain 9 ISO ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 7:111,224,291...111,304,963
Ensembl chr 7:111,224,291...111,304,963 		JBrowse link
G Nlrp3 NLR family, pyrin domain containing 3 ISO ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr10:44,826,299...44,853,373
Ensembl chr10:44,828,014...44,853,394 		JBrowse link
G Nphp3 nephrocystin 3 ISO ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:25741868 PMID:26184788 PMID:28492532 NCBI chr 8:113,500,708...113,541,179
Ensembl chr 8:113,500,509...113,541,179 		JBrowse link
G Nphp4 nephrocystin 4 ISO ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:168,270,522...168,356,393
Ensembl chr 5:168,271,073...168,358,242 		JBrowse link
G Pla2r1 phospholipase A2 receptor 1 ISO ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:25741868 NCBI chr 3:65,292,629...65,422,462
Ensembl chr 3:65,292,629...65,422,335 		JBrowse link
G Plg plasminogen ISO ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:50,872,927...50,915,406
Ensembl chr 1:50,872,926...50,917,320 		JBrowse link
G Smarcal1 SNF2 related chromatin remodeling annealing helicase 1 ISO ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:28492532 PMID:28844315 NCBI chr 9:81,689,446...81,735,406
Ensembl chr 9:81,689,531...81,735,396 		JBrowse link
G Thbd thrombomodulin severity
no_association 		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: Hemolytic uremic syndrome, atypical, susceptibility to, 1 | ClinVar Annotator: match by term: THBD-related condition
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: THBD-related condition
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 6 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 6 | ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome
CTD Direct Evidence: marker/mechanism
DNA:SNPs:5' utr, 3' utr:multiple
DNA:missense mutations:CDS:multiple 		OMIM
ClinVar
CTD
RGD		 PMID:7811989 PMID:9157575 PMID:9198186 PMID:9236408 PMID:10102456 More... RGD:11038684, RGD:11038691, RGD:11038691 NCBI chr 3:156,316,526...156,320,178
Ensembl chr 3:156,306,632...156,320,582 		JBrowse link
G Tmem67 transmembrane protein 67 ISO ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:30,333,793...30,386,702
Ensembl chr 5:30,333,793...30,386,666 		JBrowse link
G Trpc6 transient receptor potential cation channel, subfamily C, member 6 ISO ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:19380626 PMID:25741868 NCBI chr 8:14,044,216...14,148,808
Ensembl chr 8:14,043,877...14,149,304 		JBrowse link
G Wt1 WT1 transcription factor ISO ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:18559874 PMID:18591546 PMID:19171881 PMID:19221039 PMID:19494353 More... NCBI chr 3:112,019,721...112,068,454
Ensembl chr 3:112,021,641...112,068,444 		JBrowse link
autoimmune thrombocytopenic purpura term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamts13 ADAM metallopeptidase with thrombospondin type 1 motif, 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19260037 NCBI chr 3:30,697,354...30,736,539
Ensembl chr 3:30,697,942...30,736,540 		JBrowse link
G Alb albumin ISO RGD PMID:6683982 RGD:11036083 NCBI chr14:17,891,564...17,907,043
Ensembl chr14:17,891,582...17,911,865 		JBrowse link
G Cd40 CD40 molecule ISO protein:increased expression:peripheral blood, B lymphocyte (human) RGD PMID:17654056 RGD:11344977 NCBI chr 3:174,209,113...174,224,592
Ensembl chr 3:174,209,719...174,224,847 		JBrowse link
G Cd40lg CD40 ligand treatment ISO protein:increased expression:peripheral blood, T lymphocyte (human)
protein:decreased expression:serum (mouse) 		RGD PMID:17654056 PMID:22537155 PMID:18341638 PMID:16188945 RGD:11344977, RGD:11352267, RGD:11352237, RGD:11344980 NCBI chr  X:140,164,341...140,176,057
Ensembl chr  X:140,164,302...140,176,475 		JBrowse link
G Cd86 CD86 molecule treatment ISO protein:increased expression:peripheral blood mononuclear cell (human) RGD PMID:19379594 PMID:20581660 RGD:11354966, RGD:11520785 NCBI chr11:77,647,565...77,706,178
Ensembl chr11:77,647,600...77,725,361 		JBrowse link
G Dnmt3a DNA methyltransferase 3 alpha ISO mRNA:decreased expression:mononuclear cell RGD PMID:18683034 RGD:9588662 NCBI chr 6:32,507,316...32,621,678
Ensembl chr 6:32,512,070...32,614,970 		JBrowse link
G Dnmt3b DNA methyltransferase 3 beta susceptibility ISO mRNA:decreased expression:mononuclear cell
DNA:SNP:promoter: -579G>T(human) 		RGD PMID:18683034 PMID:23000068 RGD:9588662, RGD:9589094 NCBI chr 3:162,590,777...162,629,313
Ensembl chr 3:162,604,037...162,629,313 		JBrowse link
G Fas Fas cell surface death receptor ISO protein:increased expression:serum: RGD PMID:10776692 RGD:11049162 NCBI chr 1:241,212,155...241,245,774
Ensembl chr 1:241,205,935...241,246,104 		JBrowse link
G Fcgr2a Fc gamma receptor 2A no_association
susceptibility
treatment 		ISO DNA:SNP:cds:p.R131H (human) RGD PMID:20699442 PMID:23249566 PMID:22123287 PMID:21131591 RGD:11040883, RGD:11040990, RGD:11040989, RGD:11040933 NCBI chr13:85,813,516...85,830,269
Ensembl chr13:85,855,437...85,864,394
Ensembl chr13:85,855,437...85,864,394 		JBrowse link
G Fcgr2b Fc gamma receptor 2B treatment
disease_progression 		ISO DNA:SNP: :p.I232T (human) RGD PMID:21131591 PMID:21045192 PMID:22257295 PMID:15566359 PMID:19549396 RGD:11040933, RGD:11344955, RGD:11344931, RGD:11344928, RGD:11344927 NCBI chr13:85,725,897...85,740,517
Ensembl chr13:85,725,897...85,740,517 		JBrowse link
G Fcgr3a Fc gamma receptor 3A treatment
susceptibility 		ISO DNA:SNP:cds:p.V158F(human)
DNA:SNP:exon:p.F158V (rs396991) (human) 		RGD PMID:11380443 PMID:23484707 PMID:22123287 PMID:15479722 RGD:11040776, RGD:11352255, RGD:11040989, RGD:11344926 NCBI chr13:85,782,636...85,792,656
Ensembl chr13:85,782,490...85,792,651 		JBrowse link
G Gp1ba glycoprotein Ib platelet subunit alpha ISO RGD PMID:16861348 RGD:10450841 NCBI chr10:55,831,901...55,856,729
Ensembl chr10:55,829,832...55,854,560 		JBrowse link
G Il10 interleukin 10 disease_progression ISO DNA:SNP:promoter:-627C>A (human)
DNA:SNPs, haplotypes:promoter:-1082A>G, -819C>T, -592C>A (human) 		RGD PMID:25051072 PMID:22677268 RGD:11041894, RGD:11046267 NCBI chr13:45,024,921...45,029,586
Ensembl chr13:45,025,087...45,029,580 		JBrowse link
G Il18 interleukin 18 ISO protein:increased expression:plasma: RGD PMID:24801815 RGD:11073600 NCBI chr 8:59,802,072...59,829,275
Ensembl chr 8:59,809,592...59,831,286 		JBrowse link
G Il1a interleukin 1 alpha ISO DNA:SNP:promoter:-899C>T (human) RGD PMID:21591983 RGD:11051966 NCBI chr 3:136,979,804...136,990,236
Ensembl chr 3:136,979,805...136,998,013 		JBrowse link
G Il1rn interleukin 1 receptor antagonist susceptibility ISO DNA:repeats:: RGD PMID:20626741 RGD:11528541 NCBI chr 3:27,509,836...27,525,738
Ensembl chr 3:27,509,798...27,525,732 		JBrowse link
G Il2 interleukin 2 susceptibility ISO DNA:polymorphism::-330T>G(human) RGD PMID:20626741 RGD:11528541 NCBI chr 2:121,932,968...121,937,672
Ensembl chr 2:121,932,968...121,937,672 		JBrowse link
G Il4 interleukin 4 disease_progression ISO DNA:repeat:intron RGD PMID:25051072 RGD:11041894 NCBI chr10:38,272,003...38,277,549
Ensembl chr10:38,272,003...38,277,549 		JBrowse link
G Itgb3 integrin subunit beta 3 ISO RGD PMID:10936026 PMID:24258817 RGD:10755473, RGD:10755475 NCBI chr10:90,009,927...90,067,787
Ensembl chr10:90,009,900...90,067,800 		JBrowse link
G Mir130a microRNA 130a ISO RNA:decreased expression:PBMC RGD PMID:24801815 RGD:11073600 NCBI chr 3:90,229,228...90,229,315 JBrowse link
G Mir3581 microRNA 3581 treatment ISO RGD PMID:23360331 RGD:10755694 NCBI chr 6:134,579,184...134,579,263 JBrowse link
G Mir409 microRNA 409 treatment ISO RGD PMID:23360331 RGD:10755694 NCBI chr 6:134,579,185...134,579,261 JBrowse link
G Plat plasminogen activator, tissue type ISO protein:increased expression:plasma (human) RGD PMID:2129164 RGD:11541072 NCBI chr16:75,943,061...76,022,037
Ensembl chr16:75,943,064...75,967,696 		JBrowse link
G Ptpn22 protein tyrosine phosphatase, non-receptor type 22 no_association ISO DNA: snp: cds: C1858T
DNA:snp:cds:c.1858C>T (rs2476601) (human) 		RGD PMID:21597364 PMID:27309885 RGD:6484673, RGD:11535019 NCBI chr 2:194,055,165...194,103,209
Ensembl chr 2:194,045,746...194,103,209 		JBrowse link
G RT1-Bb RT1 class II, locus Bb treatment ISO DNA:polymorphisms:cds:HLA-DQB1*0401 (human) RGD PMID:10435723 RGD:11041758 NCBI chr20:4,598,475...4,604,118
Ensembl chr20:4,598,475...4,604,118 		JBrowse link
G RT1-Db1 RT1 class II, locus Db1 treatment ISO DNA:polymorphisms:cds:HLA-DRB1*0901, HLA-DRB1*0410 (human) RGD PMID:10435723 RGD:11041758 NCBI chr20:4,550,594...4,560,182
Ensembl chr20:4,550,596...4,560,165 		JBrowse link
G Socs1 suppressor of cytokine signaling 1 ISO ClinVar Annotator: match by term: Autoimmune thrombocytopenia | ClinVar Annotator: match by term: Autoimmune thrombocytopenic purpura ClinVar PMID:32853638 PMID:33087723 NCBI chr10:5,389,574...5,391,265
Ensembl chr10:5,389,334...5,391,847 		JBrowse link
G Tgfb1 transforming growth factor, beta 1 disease_progression ISO mRNA:increased expression: :
protein:decreased expression:plasma: 		RGD PMID:11886393 PMID:24763013 PMID:24801815 RGD:11073598, RGD:11073603, RGD:11073600 NCBI chr 1:90,324,312...90,340,627
Ensembl chr 1:90,324,046...90,340,899 		JBrowse link
autosomal dominant isolated macrothrombocytopenia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tubb1 tubulin, beta 1 class VI ISO ClinVar Annotator: match by term: Macrothrombocytopenia, isolated, 1, autosomal dominant | ClinVar Annotator: match by term: TUBB1-related condition
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:4516618 PMID:18849486 PMID:24344610 PMID:24777453 PMID:25741868 More... NCBI chr 3:183,666,189...183,675,656
Ensembl chr 3:183,666,242...183,674,795 		JBrowse link
autosomal dominant isolated macrothrombocytopenia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tuba8 tubulin, alpha 8 ISO ClinVar Annotator: match by term: Macrothrombocytopenia, isolated, 2, autosomal dominant | ClinVar Annotator: match by term: TUBA8-related condition OMIM
ClinVar		 PMID:18414213 PMID:25741868 PMID:26467025 PMID:28492532 PMID:34704371 NCBI chr 4:156,110,562...156,129,065
Ensembl chr 4:156,111,964...156,141,436 		JBrowse link
autosomal dominant nonsyndromic deafness 17 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myh9 myosin, heavy chain 9 ISO ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 17 | ClinVar Annotator: match by term: Deafness, autosomal dominant 17
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:1449176 PMID:5011389 PMID:8280620 PMID:9390828 PMID:10603121 More... NCBI chr 7:111,224,291...111,304,963
Ensembl chr 7:111,224,291...111,304,963 		JBrowse link
Braddock-Carey Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kif15 kinesin family member 15 ISO ClinVar Annotator: match by term: Braddock-carey syndrome 2 OMIM
ClinVar		 PMID:25741868 PMID:28150392 NCBI chr 8:131,479,340...131,550,209
Ensembl chr 8:131,479,337...131,550,202 		JBrowse link
congenital amegakaryocytic thrombocytopenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mpl MPL proto-oncogene, thrombopoietin receptor ISO
ISS 		CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital amegakaryocytic thrombocytopenia
OMIM:604498 		CTD
ClinVar
MouseDO		 PMID:971406 PMID:8073287 PMID:9536098 PMID:10077649 PMID:10971404 More... NCBI chr 5:137,259,288...137,281,540
Ensembl chr 5:137,259,288...137,272,177 		JBrowse link
congenital amegakaryocytic thrombocytopenia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mpl MPL proto-oncogene, thrombopoietin receptor ISO ClinVar Annotator: match by term: Congenital amegakaryocytic thrombocytopenia 1 OMIM
ClinVar		 PMID:971406 PMID:8073287 PMID:10077649 PMID:10971404 PMID:10971406 More... NCBI chr 5:137,259,288...137,281,540
Ensembl chr 5:137,259,288...137,272,177 		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... Ensembl chr11:93,686,834...93,693,320 JBrowse link
congenital disorder of glycosylation Ix term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Stt3b STT3 oligosaccharyltransferase complex catalytic subunit B ISO ClinVar Annotator: match by term: CDG Ix | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1x OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:23842455 PMID:25741868 PMID:28492532 More... NCBI chr 8:123,806,836...123,872,179
Ensembl chr 8:123,795,983...123,872,180 		JBrowse link
Diarrhea prodrome + Hemolytic-Uremic Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gp1ba glycoprotein Ib platelet subunit alpha ISO associated with Escherichia Coli Infections;DNA:SNP:exon: (rs121908064) (human) RGD PMID:29216383 RGD:42722620 NCBI chr10:55,831,901...55,856,729
Ensembl chr10:55,829,832...55,854,560 		JBrowse link
Drug-Induced Immune Thrombocytopenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc2 ATP binding cassette subfamily C member 2 susceptibility ISO associated with Carcinoma, Non-Small-Cell Lung;DNA:SNP, haplotype:promoter,cds: 3972C>T, -24C>T(human) RGD PMID:20943283 RGD:11080978 NCBI chr 1:252,613,875...252,672,459
Ensembl chr 1:252,614,017...252,673,471 		JBrowse link
G Dpyd dihydropyrimidine dehydrogenase treatment ISO associated with Neoplasms;DNA:SNP:intron:IVS14+1G>A (human)
associated with Stomach Neoplasms 		RGD PMID:19473056 PMID:23064955 RGD:11098817, RGD:11251740 NCBI chr 2:209,293,902...210,159,777
Ensembl chr 2:209,293,929...210,159,778 		JBrowse link
G Gstm1 glutathione S-transferase mu 1 susceptibility
treatment 		ISO associated with Ovarian Neoplasms;DNA:deletion: : (human)
associated with diffuse large B-cell lymphoma; DNA:deletion:cds: 		RGD PMID:19786980 PMID:20303013 RGD:5688741, RGD:10450835 NCBI chr 2:198,338,005...198,346,007
Ensembl chr 2:198,338,008...198,343,569 		JBrowse link
G Gstt1 glutathione S-transferase theta 1 treatment ISO associated with diffuse large B-cell lymphoma; DNA:deletion:cds: RGD PMID:20303013 RGD:10450835 NCBI chr20:12,856,068...12,873,020
Ensembl chr20:12,856,083...12,873,019 		JBrowse link
G Il1a interleukin 1 alpha treatment ISO associated with Carcinoma, Non-Small-Cell Lung
associated with Ovarian Neoplasms 		RGD PMID:7666093 PMID:8151314 RGD:11051963, RGD:11051964 NCBI chr 3:136,979,804...136,990,236
Ensembl chr 3:136,979,805...136,998,013 		JBrowse link
G Il1b interleukin 1 beta treatment ISO associated with Glioblastoma; RGD PMID:1331350 RGD:10450883 NCBI chr 3:137,030,200...137,036,581
Ensembl chr 3:137,030,205...137,036,601 		JBrowse link
G Pecam1 platelet and endothelial cell adhesion molecule 1 severity ISO RGD PMID:10942385 PMID:17234740 RGD:11541093, RGD:11541120 NCBI chr10:92,090,263...92,152,002
Ensembl chr10:92,090,235...92,151,839 		JBrowse link
G Pf4 platelet factor 4 treatment IEP RGD PMID:31863655 RGD:329901923 NCBI chr14:17,582,477...17,583,392
Ensembl chr14:17,582,477...17,583,392 		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 9:53,760,885...53,797,125
Ensembl chr 9:53,761,331...53,797,118 		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 9:53,690,704...53,728,801
Ensembl chr 9:53,690,786...53,727,639 		JBrowse link
G Ercc5 ERCC excision repair 5, endonuclease 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 9:53,801,471...53,846,611
Ensembl chr 9:53,801,714...53,875,084 		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 chr15:107,442,800...108,086,486
Ensembl chr15:107,451,634...108,085,808 		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 9:53,625,473...53,637,220
Ensembl chr 9:53,626,093...53,637,204 		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 9:53,748,484...53,801,453
Ensembl chr 9:53,740,998...53,760,588 		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 chr16:91,088,089...91,111,025
Ensembl chr16:91,076,423...91,111,025 		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 9:53,735,512...53,744,672
Ensembl chr 9:53,735,512...53,741,042 		JBrowse link
G Tpp2 tripeptidyl peptidase 2 ISO ClinVar Annotator: match by term: Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:25414442 PMID:25640679 More... NCBI chr 9:53,538,788...53,620,253
Ensembl chr 9:53,538,313...53,620,251 		JBrowse link
Giant Platelet Syndrome with Thrombocytopenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myh9 myosin, heavy chain 9 ISO ClinVar Annotator: match by term: Giant platelet syndrome with thrombocytopenia ClinVar PMID:1449176 PMID:5011389 PMID:8280620 PMID:9390828 PMID:10603121 More... NCBI chr 7:111,224,291...111,304,963
Ensembl chr 7:111,224,291...111,304,963 		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 OMIM
ClinVar		 PMID:16251947 PMID:25741868 PMID:28492532 PMID:36599939 PMID:37216524 NCBI chr  X:122,243,736...122,248,217
Ensembl chr  X:122,234,454...122,248,422 		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 chr14:17,891,564...17,907,043
Ensembl chr14:17,891,582...17,911,865 		JBrowse link
G Ccl2 C-C motif chemokine ligand 2 IEP protein:increased expression:plasma (rat) RGD PMID:10201001 RGD:11528527 NCBI chr10:67,503,077...67,504,875
Ensembl chr10:67,503,077...67,504,875 		JBrowse link
G Ccl3 C-C motif chemokine ligand 3 ISO RGD PMID:17220320 RGD:7241820 NCBI chr10:68,948,889...68,950,439
Ensembl chr10:68,948,889...68,950,439 		JBrowse link
G Cd36 CD36 molecule ISO RGD PMID:16197457 RGD:6893534 NCBI chr 4:18,209,088...18,302,142 JBrowse link
G Cd46 CD46 molecule 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 chr13:109,104,122...109,134,903 JBrowse link
G Cfh complement factor H ISO
ISS 		DNA:mutations, polymorphisms:promoter, exon:multiple
ClinVar Annotator: match by term: Hereditary hemolytic uremic syndrome 		ClinVar
MouseDO
RGD		 PMID:30595568 PMID:14583443 RGD:11041164 NCBI chr13:54,063,079...54,164,523
Ensembl chr13:54,062,531...54,164,532 		JBrowse link
G Dgke diacylglycerol kinase epsilon ISO ClinVar Annotator: match by term: Hemolytic-uremic syndrome ClinVar PMID:25854283 NCBI chr10:74,348,931...74,374,509
Ensembl chr10:74,350,246...74,374,478 		JBrowse link
G Epo erythropoietin ISO CTD Direct Evidence: therapeutic CTD PMID:12053072 NCBI chr12:24,841,285...24,844,725
Ensembl chr12:24,841,285...24,844,725 		JBrowse link
G F2 coagulation factor II, thrombin ISO associated with diarrhea;protein:increased expression:plasma (human) RGD PMID:9423793 RGD:40818428 NCBI chr 3:98,051,958...98,065,246
Ensembl chr 3:98,051,960...98,065,246 		JBrowse link
G Fos Fos proto-oncogene, AP-1 transcription factor subunit ISO RGD PMID:15632024 RGD:7242276 NCBI chr 6:110,852,188...110,855,054
Ensembl chr 6:110,852,190...110,855,598 		JBrowse link
G Hp haptoglobin ISO RGD PMID:6218601 RGD:1626361 NCBI chr19:54,449,151...54,453,701
Ensembl chr19:54,446,217...54,467,518 		JBrowse link
G Il1a interleukin 1 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:15384034 NCBI chr 3:136,979,804...136,990,236
Ensembl chr 3:136,979,805...136,998,013 		JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:15384034 NCBI chr 3:137,030,200...137,036,581
Ensembl chr 3:137,030,205...137,036,601 		JBrowse link
G Il1rl1 interleukin 1 receptor-like 1 severity ISO associated with Escherichia Coli Infections; RGD PMID:30467800 RGD:39458200 NCBI chr 9:50,157,326...50,222,888
Ensembl chr 9:50,204,551...50,222,891 		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 3:27,509,836...27,525,738
Ensembl chr 3:27,509,798...27,525,732 		JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15384034 NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,889,999...5,894,610 		JBrowse link
G Mbl2 mannose binding lectin 2 treatment ISO RGD PMID:27378476 RGD:11530050 NCBI chr 1:237,429,873...237,465,567
Ensembl chr 1:237,429,973...237,437,546 		JBrowse link
G Nqo1 NAD(P)H quinone dehydrogenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12588957 NCBI chr19:52,205,374...52,220,267
Ensembl chr19:52,205,314...52,220,260 		JBrowse link
G Pla2g7 phospholipase A2 group VII severity ISO associated with Escherichia coli Infections; DNA:transversion mutation: :994 G>T (human) RGD PMID:10873870 RGD:7257516 NCBI chr 9:24,859,491...24,901,747
Ensembl chr 9:24,859,502...24,901,747 		JBrowse link
G Plat plasminogen activator, tissue type ISO associated with Escherichia coli Infections;protein:increased expression:plasma (human) RGD PMID:11777999 RGD:11541069 NCBI chr16:75,943,061...76,022,037
Ensembl chr16:75,943,064...75,967,696 		JBrowse link
G Thbd thrombomodulin ISO RGD PMID:22942429 RGD:11038690 NCBI chr 3:156,316,526...156,320,178
Ensembl chr 3:156,306,632...156,320,582 		JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:15384034 NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,626,532...3,629,303 		JBrowse link
G Tsen2 tRNA splicing endonuclease subunit 2 ISO ClinVar Annotator: match by term: Hemolytic-uremic syndrome ClinVar PMID:34964109 NCBI chr 4:150,275,389...150,310,846
Ensembl chr 4:150,275,501...150,313,013 		JBrowse link
Heparin-induced Thrombocytopenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fcgr2a Fc gamma receptor 2A ISO RGD PMID:8772238 RGD:11040889 NCBI chr13:85,813,516...85,830,269
Ensembl chr13:85,855,437...85,864,394
Ensembl chr13:85,855,437...85,864,394 		JBrowse link
G Fcgr3a Fc gamma receptor 3A susceptibility ISO DNA:SNP:cds:p.V158F(human) RGD PMID:15191947 RGD:11040991 NCBI chr13:85,782,636...85,792,656
Ensembl chr13:85,782,490...85,792,651 		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 chr13:45,024,921...45,029,586
Ensembl chr13:45,025,087...45,029,580 		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 3:177,891,705...177,909,743
Ensembl chr 3:177,891,705...177,909,743 		JBrowse link
Jacobsen Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acad8 acyl-CoA dehydrogenase family, member 8 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:33,641,420...33,665,542
Ensembl chr 8:33,641,420...33,665,542 		JBrowse link
G Acrv1 acrosomal vesicle protein 1 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:44,593,246...44,598,823
Ensembl chr 8:44,592,344...44,599,019 		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 8:37,566,064...37,589,446
Ensembl chr 8:37,566,065...37,589,446 		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 8:37,607,001...37,626,597
Ensembl chr 8:37,607,001...37,626,597 		JBrowse link
G Aplp2 amyloid beta precursor like protein 2 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:37,857,407...37,920,487
Ensembl chr 8:37,857,407...37,920,031 		JBrowse link
G Arhgap32 Rho GTPase activating protein 32 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:38,679,368...38,939,960
Ensembl chr 8:38,684,484...38,939,960 		JBrowse link
G B3gat1 beta-1,3-glucuronyltransferase 1 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:33,362,791...33,390,446
Ensembl chr 8:33,363,048...33,390,443 		JBrowse link
G Barx2 BARX homeobox 2 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:38,509,277...38,576,978
Ensembl chr 8:38,509,277...38,576,978 		JBrowse link
G Ccdc15 coiled-coil domain containing 15 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:45,165,297...45,257,641
Ensembl chr 8:45,134,596...45,277,989 		JBrowse link
G Cdon cell adhesion associated, oncogene regulated ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:42,032,921...42,119,451
Ensembl chr 8:42,033,042...42,119,345 		JBrowse link
G Chek1 checkpoint kinase 1 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:44,609,417...44,629,867
Ensembl chr 8:44,609,417...44,629,359 		JBrowse link
G Dcps decapping enzyme, scavenger ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:41,729,507...41,782,222
Ensembl chr 8:41,724,563...41,782,222 		JBrowse link
G Ddx25 DEAD-box helicase 25 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:42,152,046...42,168,635
Ensembl chr 8:42,152,047...42,168,080 		JBrowse link
G Ei24 EI24, autophagy associated transmembrane protein ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:44,683,138...44,699,502
Ensembl chr 8:44,683,144...44,695,214 		JBrowse link
G Esam endothelial cell adhesion molecule ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:45,426,985...45,437,976
Ensembl chr 8:45,425,731...45,437,973 		JBrowse link
G Ets1 ETS proto-oncogene 1, transcription factor ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:39,303,936...39,426,022
Ensembl chr 8:39,303,925...39,426,021 		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 8:41,824,522...41,875,190
Ensembl chr 8:41,824,158...41,846,256 		JBrowse link
G Fez1 fasciculation and elongation protein zeta 1 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:44,733,288...44,778,519
Ensembl chr 8:44,733,300...44,784,097 		JBrowse link
G Fli1 Fli-1 proto-oncogene, ETS transcription factor ISO ClinVar Annotator: match by term: 11q partial monosomy syndrome | ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:15798196 PMID:24100448 PMID:25741868 PMID:28255014 PMID:28492532 More... NCBI chr 8:39,089,526...39,209,511
Ensembl chr 8:39,089,533...39,208,557 		JBrowse link
G Foxred1 FAD-dependent oxidoreductase domain containing 1 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:41,789,557...41,818,064
Ensembl chr 8:41,808,843...41,817,980 		JBrowse link
G Glb1l2 galactosidase, beta 1-like 2 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:33,391,201...33,442,587
Ensembl chr 8:33,390,678...33,442,695 		JBrowse link
G Glb1l3 galactosidase, beta 1-like 3 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:33,454,914...33,496,641
Ensembl chr 8:33,454,914...33,496,641 		JBrowse link
G Hepacam hepatic and glial cell adhesion molecule ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:45,276,594...45,294,006
Ensembl chr 8:45,276,683...45,295,548 		JBrowse link
G Hyls1 HYLS1, centriolar and ciliogenesis associated ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:42,170,505...42,179,573
Ensembl chr 8:42,168,546...42,179,725 		JBrowse link
G Igsf9b immunoglobulin superfamily, member 9B ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:33,971,779...34,027,390
Ensembl chr 8:33,971,779...34,018,128 		JBrowse link
G Jam3 junctional adhesion molecule 3 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:33,767,606...33,828,451
Ensembl chr 8:33,767,607...33,828,623 		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 8:39,014,822...39,066,716
Ensembl chr 8:39,037,992...39,066,715 		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 8:38,981,598...39,011,197
Ensembl chr 8:38,983,034...39,011,101 		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 8:41,123,692...41,663,528
Ensembl chr 8:41,123,878...41,664,147 		JBrowse link
G Msantd2 Myb/SANT DNA binding domain containing 2 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:45,389,615...45,423,452
Ensembl chr 8:45,389,514...45,423,452 		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 8:33,696,214...33,765,520
Ensembl chr 8:33,696,270...33,765,518 		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 8:38,089,574...38,121,506
Ensembl chr 8:38,089,999...38,121,501 		JBrowse link
G Nrgn neurogranin ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:45,444,223...45,452,417
Ensembl chr 8:45,444,223...45,452,417 		JBrowse link
G Ntm neurotrimin ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:35,634,929...36,625,081
Ensembl chr 8:35,635,640...36,624,807 		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 8:34,451,629...35,562,897
Ensembl chr 8:34,451,500...35,558,966 		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 8:45,623,650...45,624,579
Ensembl chr 8:45,623,650...45,624,579 		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 8:45,668,452...45,669,384
Ensembl chr 8:45,668,452...45,669,384 		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 8:47,419,122...47,420,063
Ensembl chr 8:47,419,116...47,420,063 		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 8:45,908,892...45,909,821
Ensembl chr 8:45,908,892...45,909,821 		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 8:45,882,321...45,883,253
Ensembl chr 8:45,882,321...45,883,253 		JBrowse link
G Panx3 pannexin 3 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:45,554,474...45,566,378
Ensembl chr 8:45,555,501...45,566,378 		JBrowse link
G Pate1 prostate and testis expressed 1 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:42,306,092...42,308,549
Ensembl chr 8:42,306,092...42,308,549 		JBrowse link
G Pate2 prostate and testis expressed 2 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:42,271,831...42,283,219
Ensembl chr 8:42,267,732...42,308,199 		JBrowse link
G Pate3 prostate and testis expressed 3 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:42,271,846...42,273,857
Ensembl chr 8:42,270,845...42,274,063 		JBrowse link
G Pate4 prostate and testis expressed 4 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:42,246,492...42,249,233
Ensembl chr 8:42,246,978...42,249,234 		JBrowse link
G Pknox2 PBX/knotted 1 homeobox 2 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:44,789,464...45,051,933
Ensembl chr 8:44,789,467...44,979,754 		JBrowse link
G Prdm10 PR/SET domain 10 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:37,982,210...38,085,907
Ensembl chr 8:37,982,403...38,085,907 		JBrowse link
G Pus3 pseudouridine synthase 3 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:42,168,194...42,176,527
Ensembl chr 8:42,168,251...42,176,522 		JBrowse link
G Robo3 roundabout guidance receptor 3 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:45,322,323...45,340,466
Ensembl chr 8:45,323,344...45,340,222 		JBrowse link
G Robo4 roundabout guidance receptor 4 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:45,308,739...45,322,522
Ensembl chr 8:45,308,739...45,322,531 		JBrowse link
G Rpusd4 RNA pseudouridine synthase D4 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:41,875,217...41,884,702
Ensembl chr 8:41,874,764...41,884,699 		JBrowse link
G Siae sialic acid acetylesterase ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:45,507,465...45,542,740
Ensembl chr 8:45,507,326...45,542,740 		JBrowse link
G Slc37a2 solute carrier family 37 member 2 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:45,134,596...45,160,551
Ensembl chr 8:45,134,596...45,277,989 		JBrowse link
G Snx19 sorting nexin 19 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:37,088,142...37,125,317
Ensembl chr 8:37,088,191...37,125,264 		JBrowse link
G Spa17 sperm autoantigenic protein 17 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:45,496,175...45,507,262
Ensembl chr 8:45,496,175...45,507,262 		JBrowse link
G Spata19 spermatogenesis associated 19 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:34,057,130...34,079,097
Ensembl chr 8:34,073,316...34,079,096 		JBrowse link
G Srpra SRP receptor subunit alpha ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:41,818,199...41,824,292
Ensembl chr 8:41,818,229...41,824,280 		JBrowse link
G St14 ST14 transmembrane serine protease matriptase ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:37,798,994...37,839,881
Ensembl chr 8:37,798,995...37,855,652 		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 8:41,673,510...41,723,158
Ensembl chr 8:41,673,510...41,712,551 		JBrowse link
G Stt3a STT3 oligosaccharyltransferase complex catalytic subunit A ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:44,632,473...44,671,960
Ensembl chr 8:44,632,473...44,672,226 		JBrowse link
G Tbrg1 transforming growth factor beta regulator 1 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:45,544,018...45,551,676
Ensembl chr 8:45,544,018...45,551,676 		JBrowse link
G Thyn1 thymocyte nuclear protein 1 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:33,665,614...33,674,593
Ensembl chr 8:33,665,650...33,675,414 		JBrowse link
G Tirap TIR domain containing adaptor protein ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:41,789,557...41,805,903
Ensembl chr 8:41,791,878...41,796,312 		JBrowse link
G Tmem218 transmembrane protein 218 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:45,113,368...45,128,739
Ensembl chr 8:45,113,427...45,129,152 		JBrowse link
G Tmem45b transmembrane protein 45b ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:38,123,423...38,168,599
Ensembl chr 8:38,123,423...38,168,599 		JBrowse link
G Vps26b VPS26 retromer complex component B ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:33,675,025...33,696,132
Ensembl chr 8:33,675,025...33,696,132 		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 8:45,438,865...45,443,908
Ensembl chr 8:45,438,954...45,444,146 		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 8:37,724,237...37,782,220
Ensembl chr 8:37,724,250...37,776,691 		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 2:122,164,454...122,218,796
Ensembl chr 2:122,164,454...122,224,493 		JBrowse link
G Gna14 G protein subunit alpha 14 ISO ClinVar Annotator: match by term: Kaposiform hemangioendothelioma ClinVar PMID:25741868 PMID:27476652 NCBI chr 1:223,141,802...223,324,210
Ensembl chr 1:223,141,802...223,324,210 		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 chain 9 ISO
ISS 		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
OMIM:155100
CTD Direct Evidence: marker/mechanism
DNA:mutation:cds:p.R702C(mouse)
DNA:mutation:exon:p.E1841K(human)
DNA:missense mutations:exons:multiple 		ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:1449176 PMID:5011389 PMID:8280620 PMID:9390828 PMID:9536098 More... RGD:6902926, RGD:11533924, RGD:11532766, RGD:6903235 NCBI chr 7:111,224,291...111,304,963
Ensembl chr 7:111,224,291...111,304,963 		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 3:183,666,189...183,675,656
Ensembl chr 3:183,666,242...183,674,795 		JBrowse link
Neonatal Alloimmune Thrombocytopenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Itga2 integrin subunit alpha 2 ISO ClinVar Annotator: match by term: Fetal and neonatal alloimmune thrombocytopenia ClinVar PMID:23368983 PMID:25741868 NCBI chr 2:48,253,412...48,354,509
Ensembl chr 2:48,253,412...48,354,509 		JBrowse link
G Itga2b integrin subunit alpha 2b ISO ClinVar Annotator: match by term: BAK PLATELET-SPECIFIC ANTIGEN ClinVar PMID:2014236 PMID:25741868 PMID:28492532 NCBI chr10:87,908,697...87,926,225
Ensembl chr10:87,908,697...87,925,833 		JBrowse link
G Itgb3 integrin subunit 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 chr10:90,009,927...90,067,787
Ensembl chr10:90,009,900...90,067,800 		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 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:23434115 PMID:24069336 PMID:25361813 More... NCBI chr 6:104,731,485...104,826,312
Ensembl chr 6:104,731,485...104,826,172 		JBrowse link
G Fli1 Fli-1 proto-oncogene, ETS transcription factor ISO ClinVar Annotator: match by term: Bleeding disorder platelet type macrothrombocytopenia ClinVar PMID:23809206 PMID:26316623 NCBI chr 8:39,089,526...39,209,511
Ensembl chr 8:39,089,533...39,208,557 		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 transcriptional repressor ISO ClinVar Annotator: match by term: GFI1B-related condition | 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 3:32,338,213...32,350,963
Ensembl chr 3:32,338,214...32,350,916 		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 subunit 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 chr 2:48,253,412...48,354,509
Ensembl chr 2:48,253,412...48,354,509 		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 PMID:25741868 NCBI chr 2:48,237,655...48,249,394
Ensembl chr 2:48,237,655...48,249,394 		JBrowse link
Posttransfusion Purpura term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Itgb3 integrin subunit 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 chr10:90,009,927...90,067,787
Ensembl chr10:90,009,900...90,067,800 		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 4:82,673,139...82,676,801
Ensembl chr 4:82,673,140...82,676,844 		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: HOXA11-related condition | ClinVar Annotator: match by term: Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 OMIM
ClinVar		 PMID:11101832 PMID:25741868 NCBI chr 4:82,673,139...82,676,801
Ensembl chr 4:82,673,140...82,676,844 		JBrowse link
G Mecom MDS1 and EVI1 complex locus ISO ClinVar Annotator: match by term: Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 ClinVar PMID:25741868 NCBI chr 2:114,837,815...115,393,052
Ensembl chr 2:114,837,840...115,393,038 		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 ISO ClinVar Annotator: match by term: Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 ClinVar PMID:25741868 PMID:38177409 NCBI chr 4:46,606,538...46,639,616
Ensembl chr 4:46,600,738...46,639,740 		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 2:114,837,815...115,393,052
Ensembl chr 2:114,837,840...115,393,038 		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 ClinVar Annotator: match by term: CDC42-related condition | ClinVar Annotator: match by term: Takenouchi-Kosaki syndrome OMIM
ClinVar		 PMID:25741868 PMID:26386261 PMID:26708094 PMID:26795593 PMID:27513193 More... NCBI chr 5:154,838,478...154,876,629
Ensembl chr 5:154,839,631...154,876,627 		JBrowse link
Thrombocytopenia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akap4 A-kinase anchoring protein 4 ISO ClinVar Annotator: match by term: THROMBOCYTOPENIA, X-LINKED, 1 ClinVar PMID:28492532 NCBI chr  X:18,107,256...18,117,549
Ensembl chr  X:18,107,275...18,117,549 		JBrowse link
G Bmp15 bone morphogenetic protein 15 ISO ClinVar Annotator: match by term: THROMBOCYTOPENIA, X-LINKED, 1 ClinVar PMID:28492532 NCBI chr  X:18,840,943...18,846,006
Ensembl chr  X:18,840,829...18,847,438 		JBrowse link
G Cacna1f calcium voltage-gated channel subunit alpha1 F ISO ClinVar Annotator: match by term: THROMBOCYTOPENIA, X-LINKED, 1 ClinVar PMID:28492532 NCBI chr  X:17,539,992...17,568,308
Ensembl chr  X:17,539,920...17,568,308 		JBrowse link
G Ccdc120 coiled-coil domain containing 120 ISO ClinVar Annotator: match by term: THROMBOCYTOPENIA, X-LINKED, 1 ClinVar PMID:28492532 NCBI chr  X:17,437,219...17,443,716
Ensembl chr  X:17,425,624...17,444,717 		JBrowse link
G Ccdc22 coiled-coil domain containing 22 ISO ClinVar Annotator: match by term: THROMBOCYTOPENIA, X-LINKED, 1 ClinVar PMID:28492532 NCBI chr  X:17,570,184...17,582,130
Ensembl chr  X:17,535,659...17,582,130 		JBrowse link
G Ccnb3 cyclin B3 ISO ClinVar Annotator: match by term: THROMBOCYTOPENIA, X-LINKED, 1 ClinVar PMID:28492532 NCBI chr  X:18,149,915...18,214,801
Ensembl chr  X:18,149,915...18,214,801 		JBrowse link
G Clcn5 chloride voltage-gated channel 5 ISO ClinVar Annotator: match by term: THROMBOCYTOPENIA, X-LINKED, 1 ClinVar PMID:28492532 NCBI chr  X:17,857,260...18,011,844
Ensembl chr  X:17,857,260...18,011,844 		JBrowse link
G Dgkk diacylglycerol kinase kappa ISO ClinVar Annotator: match by term: THROMBOCYTOPENIA, X-LINKED, 1 ClinVar PMID:28492532 NCBI chr  X:18,253,849...18,385,805
Ensembl chr  X:18,256,463...18,385,640 		JBrowse link
G Ebp EBP, cholestenol delta-isomerase ISO ClinVar Annotator: match by term: THROMBOCYTOPENIA, X-LINKED, 1 ClinVar PMID:28492532 NCBI chr  X:16,971,372...16,977,782
Ensembl chr  X:16,971,405...16,977,781 		JBrowse link
G Eras ES cell expressed Ras ISO ClinVar Annotator: match by term: THROMBOCYTOPENIA, X-LINKED, 1 ClinVar PMID:28492532 NCBI chr  X:17,245,915...17,250,301
Ensembl chr  X:17,245,789...17,250,293 		JBrowse link
G Foxp3 forkhead box P3 ISO ClinVar Annotator: match by term: THROMBOCYTOPENIA, X-LINKED, 1 ClinVar PMID:28492532 NCBI chr  X:17,580,380...17,601,181
Ensembl chr  X:17,580,380...17,595,894 		JBrowse link
G Gata1 GATA binding protein 1 ISO associated with Beta-Thalassemia;DNA:missense mutation: :p.R216Q (human)
ClinVar Annotator: match by term: THROMBOCYTOPENIA, X-LINKED, 1 		ClinVar
RGD		 PMID:28492532 PMID:12200364 RGD:10450747 NCBI chr  X:17,193,291...17,209,462
Ensembl chr  X:17,201,633...17,209,459 		JBrowse link
G Glod5 glyoxalase domain containing 5 ISO ClinVar Annotator: match by term: THROMBOCYTOPENIA, X-LINKED, 1 ClinVar PMID:28492532 NCBI chr  X:17,145,936...17,160,733
Ensembl chr  X:17,145,938...17,160,619 		JBrowse link
G Gpkow G patch domain and KOW motifs ISO ClinVar Annotator: match by term: THROMBOCYTOPENIA, X-LINKED, 1 ClinVar PMID:28492532 NCBI chr  X:17,463,521...17,478,298
Ensembl chr  X:17,463,525...17,478,298 		JBrowse link
G Gripap1 GRIP1 associated protein 1 ISO ClinVar Annotator: match by term: THROMBOCYTOPENIA, X-LINKED, 1 ClinVar PMID:28492532 NCBI chr  X:17,350,817...17,380,626
Ensembl chr  X:17,350,819...17,380,588 		JBrowse link
G Hdac6 histone deacetylase 6 ISO ClinVar Annotator: match by term: THROMBOCYTOPENIA, X-LINKED, 1 ClinVar PMID:28492532 NCBI chr  X:17,222,538...17,244,373
Ensembl chr  X:17,222,856...17,244,370 		JBrowse link
G Kcnd1 potassium voltage-gated channel subfamily D member 1 ISO ClinVar Annotator: match by term: THROMBOCYTOPENIA, X-LINKED, 1 ClinVar PMID:28492532 NCBI chr  X:17,333,612...17,349,255
Ensembl chr  X:17,333,612...17,347,799 		JBrowse link
G Magix MAGI family member, X-linked ISO ClinVar Annotator: match by term: THROMBOCYTOPENIA, X-LINKED, 1 ClinVar PMID:28492532 NCBI chr  X:17,496,092...17,504,370
Ensembl chr  X:17,496,225...17,504,369 		JBrowse link
G Mir500 microRNA 500 ISO ClinVar Annotator: match by term: THROMBOCYTOPENIA, X-LINKED, 1 ClinVar PMID:28492532 NCBI chr  X:17,930,647...17,930,726
Ensembl chr  X:17,930,637...17,930,728 		JBrowse link
G Mir532 microRNA 532 ISO ClinVar Annotator: match by term: THROMBOCYTOPENIA, X-LINKED, 1 ClinVar PMID:28492532 NCBI chr  X:17,919,185...17,919,263
Ensembl chr  X:17,919,185...17,919,263 		JBrowse link
G Nudt11 nudix hydrolase 11 ISO ClinVar Annotator: match by term: THROMBOCYTOPENIA, X-LINKED, 1 ClinVar PMID:28492532 NCBI chr  X:18,998,587...19,005,208
Ensembl chr  X:18,998,461...19,005,208 		JBrowse link
G Otud5 OTU deubiquitinase 5 ISO ClinVar Annotator: match by term: THROMBOCYTOPENIA, X-LINKED, 1 ClinVar PMID:28492532 NCBI chr  X:17,296,750...17,331,257
Ensembl chr  X:17,298,029...17,331,054 		JBrowse link
G Pcsk1n proprotein convertase subtilisin/kexin type 1 inhibitor ISO ClinVar Annotator: match by term: THROMBOCYTOPENIA, X-LINKED, 1 ClinVar PMID:28492532 NCBI chr  X:17,251,963...17,255,405
Ensembl chr  X:17,251,965...17,257,360 		JBrowse link
G Pim2 Pim-2 proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: THROMBOCYTOPENIA, X-LINKED, 1 ClinVar PMID:28492532 NCBI chr  X:17,289,509...17,294,778
Ensembl chr  X:17,289,509...17,294,778 		JBrowse link
G Plp2 proteolipid protein 2 ISO ClinVar Annotator: match by term: THROMBOCYTOPENIA, X-LINKED, 1 ClinVar PMID:28492532 NCBI chr  X:17,506,153...17,509,552
Ensembl chr  X:17,506,059...17,509,550 		JBrowse link
G Porcn porcupine O-acyltransferase ISO ClinVar Annotator: match by term: THROMBOCYTOPENIA, X-LINKED, 1 ClinVar PMID:28492532 NCBI chr  X:16,957,811...16,970,440
Ensembl chr  X:16,957,810...16,970,439 		JBrowse link
G Ppp1r3f protein phosphatase 1, regulatory subunit 3F ISO ClinVar Annotator: match by term: THROMBOCYTOPENIA, X-LINKED, 1 ClinVar PMID:28492532 NCBI chr  X:17,581,467...17,617,087
Ensembl chr  X:17,601,239...17,617,102 		JBrowse link
G Pqbp1 polyglutamine binding protein 1 ISO ClinVar Annotator: match by term: THROMBOCYTOPENIA, X-LINKED, 1 ClinVar PMID:28492532 NCBI chr  X:17,275,445...17,280,018
Ensembl chr  X:17,275,759...17,280,016 		JBrowse link
G Praf2 PRA1 domain family, member 2 ISO ClinVar Annotator: match by term: THROMBOCYTOPENIA, X-LINKED, 1 ClinVar PMID:28492532 NCBI chr  X:17,445,313...17,447,950
Ensembl chr  X:17,445,313...17,447,950 		JBrowse link
G Prickle3 prickle planar cell polarity protein 3 ISO ClinVar Annotator: match by term: THROMBOCYTOPENIA, X-LINKED, 1 ClinVar PMID:28492532 NCBI chr  X:17,509,551...17,520,157
Ensembl chr  X:17,509,554...17,520,122 		JBrowse link
G Rbm3 RNA binding motif protein 3 ISO ClinVar Annotator: match by term: THROMBOCYTOPENIA, X-LINKED, 1 ClinVar PMID:28492532 NCBI chr  X:17,020,863...17,024,341
Ensembl chr  X:17,020,864...17,024,841 		JBrowse link
G Shroom4 shroom family member 4 ISO ClinVar Annotator: match by term: THROMBOCYTOPENIA, X-LINKED, 1 ClinVar PMID:28492532 NCBI chr  X:18,537,371...18,748,665
Ensembl chr  X:18,540,913...18,748,700 		JBrowse link
G Slc35a2 solute carrier family 35 member A2 ISO ClinVar Annotator: match by term: THROMBOCYTOPENIA, X-LINKED, 1 ClinVar PMID:28492532 NCBI chr  X:17,280,072...17,288,928
Ensembl chr  X:17,280,074...17,288,613 		JBrowse link
G Suv39h1 SUV39H1 histone lysine methyltransferase ISO ClinVar Annotator: match by term: THROMBOCYTOPENIA, X-LINKED, 1 ClinVar PMID:28492532 NCBI chr  X:17,093,059...17,105,942
Ensembl chr  X:17,092,986...17,105,942 		JBrowse link
G Suv39h1-ps1 SUV39H1 histone lysine methyltransferase, pseudogene 1 ISO ClinVar Annotator: match by term: THROMBOCYTOPENIA, X-LINKED, 1 ClinVar PMID:28492532 NCBI chr  X:146,828,818...146,831,485 JBrowse link
G Syp synaptophysin ISO ClinVar Annotator: match by term: THROMBOCYTOPENIA, X-LINKED, 1 ClinVar PMID:28492532 NCBI chr  X:17,521,348...17,536,449
Ensembl chr  X:17,521,348...17,536,984 		JBrowse link
G Tbc1d25 TBC1 domain family, member 25 ISO ClinVar Annotator: match by term: THROMBOCYTOPENIA, X-LINKED, 1 ClinVar PMID:28492532 NCBI chr  X:16,986,629...17,010,228
Ensembl chr  X:16,986,269...17,010,230 		JBrowse link
G Tfe3 transcription factor binding to IGHM enhancer 3 ISO ClinVar Annotator: match by term: THROMBOCYTOPENIA, X-LINKED, 1 ClinVar PMID:28492532 NCBI chr  X:17,401,466...17,414,829
Ensembl chr  X:17,401,466...17,414,685 		JBrowse link
G Timm17b translocase of inner mitochondrial membrane 17b ISO ClinVar Annotator: match by term: THROMBOCYTOPENIA, X-LINKED, 1 ClinVar PMID:28492532 NCBI chr  X:17,268,257...17,275,424
Ensembl chr  X:17,268,257...17,275,563 		JBrowse link
G Usp27x ubiquitin specific peptidase 27, X-linked ISO ClinVar Annotator: match by term: THROMBOCYTOPENIA, X-LINKED, 1 ClinVar PMID:28492532 NCBI chr  X:17,795,506...17,798,741
Ensembl chr  X:17,794,884...17,798,879 		JBrowse link
G Was WASP actin nucleation promoting factor ISO ClinVar Annotator: match by term: THROMBOCYTOPENIA, X-LINKED, 1 | ClinVar Annotator: match by term: Thrombocytopenia 1
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:3284030 PMID:7579329 PMID:7753869 PMID:7795648 PMID:8528198 More... NCBI chr  X:17,077,057...17,085,802
Ensembl chr  X:17,073,314...17,085,802 		JBrowse link
G Wdr13 WD repeat domain 13 ISO ClinVar Annotator: match by term: THROMBOCYTOPENIA, X-LINKED, 1 ClinVar PMID:28492532 NCBI chr  X:17,034,779...17,045,682
Ensembl chr  X:17,034,504...17,045,679 		JBrowse link
G Wdr45 WD repeat domain 45 ISO ClinVar Annotator: match by term: THROMBOCYTOPENIA, X-LINKED, 1 ClinVar PMID:28492532 NCBI chr  X:17,448,195...17,454,117
Ensembl chr  X:17,448,207...17,454,117 		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 3:96,861,785...97,017,702
Ensembl chr 3:96,861,785...97,017,656 		JBrowse link
Thrombocytopenia 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rap1b RAP1B, member of RAS oncogene family 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 chr 7:55,308,922...55,342,217
Ensembl chr 7:55,308,922...55,342,217 		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 ClinVar Annotator: match by term: Thrombocytopenia 12 with or without myopathy OMIM
ClinVar		 PMID:2479670 PMID:11528398 PMID:12177386 PMID:12473753 PMID:12473769 More... NCBI chr 5:63,062,953...63,103,320
Ensembl chr 5:63,062,850...63,103,251 		JBrowse link
THROMBOCYTOPENIA 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gale UDP-galactose-4-epimerase ISO ClinVar Annotator: match by term: THROMBOCYTOPENIA, AUTOSOMAL RECESSIVE, 13 | ClinVar Annotator: match by term: Thrombocytopenia 13, syndromic OMIM
ClinVar		 PMID:6408303 PMID:7305435 PMID:9973283 PMID:10086948 PMID:11117433 More... NCBI chr 5:153,477,420...153,481,926
Ensembl chr 5:153,478,325...153,481,922 		JBrowse link
Thrombocytopenia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acbd5 acyl-CoA binding domain containing 5 ISO ClinVar Annotator: match by term: Thrombocytopenia 2 ClinVar PMID:25741868 PMID:28492532 NCBI chr17:90,114,250...90,156,286
Ensembl chr17:90,114,375...90,156,286 		JBrowse link
G Ankrd26 ankyrin repeat domain containing 26 ISO ClinVar Annotator: match by term: ANKRD26-related condition | ClinVar Annotator: match by term: Thrombocytopenia 2
DNA:mutations:5'utr: 		OMIM
ClinVar
RGD		 PMID:10521306 PMID:17666371 PMID:20626622 PMID:21211618 PMID:21270786 More... RGD:9681743 NCBI chr 4:153,342,901...153,412,321
Ensembl chr 4:153,343,578...153,412,256 		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 chr17:90,158,592...90,195,550
Ensembl chr17:90,160,068...90,195,564 		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 ClinVar Annotator: match by term: FYB1-related condition | ClinVar Annotator: match by term: Thrombocytopenia 3
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:25741868 PMID:25876182 PMID:28748566 NCBI chr 2:57,360,084...57,508,609
Ensembl chr 2:57,360,096...57,508,608 		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 4:80,982,667...80,984,767
Ensembl chr 4:80,982,668...80,984,816
Ensembl chr18:80,982,668...80,984,816 		JBrowse link
Thrombocytopenia 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cldn16 claudin 16 ISO ClinVar Annotator: match by term: Thrombocytopenia 5 ClinVar PMID:25741868 NCBI chr11:87,795,106...87,814,396
Ensembl chr11:87,795,106...87,814,396 		JBrowse link
G Etv6 ETS variant transcription factor 6 ISO ClinVar Annotator: match by term: Thrombocytopenia 5 OMIM
ClinVar		 PMID:9536098 PMID:9694803 PMID:15806161 PMID:17576681 PMID:17988997 More... NCBI chr 4:168,580,405...168,819,817
Ensembl chr 4:168,580,138...168,819,802 		JBrowse link
Thrombocytopenia 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Src SRC proto-oncogene, non-receptor tyrosine kinase ISO ClinVar Annotator: match by term: SRC-related condition | ClinVar Annotator: match by term: Thrombocytopenia 6 OMIM
ClinVar		 PMID:25741868 PMID:26936507 PMID:28492532 PMID:32581362 NCBI chr 3:166,511,616...166,559,463
Ensembl chr 3:166,511,985...166,559,462 		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 9:101,122,793...101,132,746
Ensembl chr 9:101,122,793...101,132,745 		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 1:195,599,287...195,619,024
Ensembl chr 1:195,600,967...195,619,013 		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: ACTB-associated syndromic thrombocytopenia OMIM
ClinVar		 PMID:10411937 PMID:25255767 PMID:25741868 PMID:26583190 PMID:28492532 More... NCBI chr12:16,776,664...16,779,634
Ensembl chr12:16,776,661...16,780,242 		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... Ensembl chr11:93,686,834...93,693,320 JBrowse link
thrombocytopenia due to platelet alloimmunization term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fcgr3a Fc gamma receptor 3A treatment ISO DNA:SNP:cds: RGD PMID:22775462 RGD:11040770 NCBI chr13:85,782,636...85,792,656
Ensembl chr13:85,782,490...85,792,651 		JBrowse link
G Socs1 suppressor of cytokine signaling 1 ISO ClinVar Annotator: match by term: IMMUNE THROMBOCYTOPENIA ClinVar PMID:33087723 NCBI chr10:5,389,574...5,391,265
Ensembl chr10:5,389,334...5,391,847 		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: MPIG6B-related condition | ClinVar Annotator: match by term: Thrombocytopenia, anemia, and myelofibrosis OMIM
ClinVar		 PMID:23112346 PMID:25741868 PMID:27743390 PMID:28492532 NCBI chr20:3,761,832...3,765,679
Ensembl chr20:3,762,182...3,765,679 		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 2:187,400,786...187,421,877
Ensembl chr 2:187,349,186...187,422,743 		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 2:186,818,496...186,823,921
Ensembl chr 2:186,817,216...186,824,467 		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 2:186,895,896...186,915,903
Ensembl chr 2:186,895,945...186,915,902 		JBrowse link
G Bcl9 BCL9, transcription coactivator ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr 2:187,449,425...187,475,241
Ensembl chr 2:187,449,425...187,475,241 		JBrowse link
G Cd160 CD160 molecule ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr 2:187,029,654...187,042,447
Ensembl chr 2:187,033,140...187,064,587 		JBrowse link
G Chd1l chromodomain helicase DNA binding protein 1-like ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr 2:187,819,869...187,906,359
Ensembl chr 2:187,811,954...187,890,477 		JBrowse link
G Fmo5 flavin containing dimethylaniline monoxygenase 5 ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr 2:187,885,741...187,938,468
Ensembl chr 2:187,910,964...187,938,464 		JBrowse link
G Gja5 gap junction protein, alpha 5 ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr 2:187,291,227...187,310,770
Ensembl chr 2:187,234,674...187,318,512 		JBrowse link
G Gja8 gap junction protein, alpha 8 ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr 2:187,179,668...187,181,284
Ensembl chr 2:187,175,507...187,186,167 		JBrowse link
G Gpr89b G protein-coupled receptor 89B ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr 2:187,096,970...187,134,391
Ensembl chr 2:187,080,020...187,134,391 		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 2:186,754,801...186,758,708
Ensembl chr 2:186,754,811...186,758,867 		JBrowse link
G Itga10 integrin subunit 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 2:186,871,711...186,891,012
Ensembl chr 2:186,871,711...186,891,012 		JBrowse link
G Lix1l limb and CNS expressed 1 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 2:186,824,864...186,850,761
Ensembl chr 2:186,824,884...186,850,759 		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 2:186,930,305...186,932,797
Ensembl chr 2:186,930,305...186,932,797 		JBrowse link
G Pdzk1 PDZ domain containing 1 ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr 2:187,064,995...187,096,348
Ensembl chr 2:187,065,013...187,096,806 		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:25741868 More... NCBI chr 2:186,858,222...186,869,814
Ensembl chr 2:186,860,912...186,869,800 		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 2:186,921,384...186,930,292
Ensembl chr 2:186,921,428...186,936,714 		JBrowse link
G Polr3c RNA polymerase III subunit 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 2:186,935,038...186,950,962
Ensembl chr 2:186,935,038...186,950,962 		JBrowse link
G Polr3gl RNA polymerase III subunit GL ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar PMID:17236129 PMID:22366785 PMID:22581968 PMID:24220582 PMID:26233629 More... NCBI chr 2:186,800,419...186,818,048
Ensembl chr 2:186,800,351...186,805,197 		JBrowse link
G Ppial4g peptidylprolyl isomerase A like 4G ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr15:79,601,128...80,424,184
Ensembl chr15:80,423,564...80,424,151 		JBrowse link
G Prkab2 protein kinase AMP-activated non-catalytic subunit beta 2 ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr 2:187,946,008...187,961,615
Ensembl chr 2:187,945,982...187,961,608 		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 2:186,854,018...186,856,802
Ensembl chr 2:186,854,036...186,856,802 		JBrowse link
G Rnf115 ring finger protein 115 ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr 2:186,950,959...187,018,673
Ensembl chr 2:186,950,760...187,019,561 		JBrowse link
G Rnvu1-27 RNA, variant U1 small nuclear ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr 2:186,631,884...186,632,047
Ensembl chr 2:186,631,884...186,632,047 		JBrowse link
G Rnvu1-6 RNA, variant U1 small nuclear 6 ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr 2:222,880,320...222,880,483
Ensembl chr 2:222,880,320...222,880,483 		JBrowse link
G Rnvu1-7 RNA, variant U1 small nuclear 7 ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr18:82,176,131...82,176,273
Ensembl chr18:82,176,131...82,176,273 		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 2:186,781,933...186,785,736
Ensembl chr 2:186,781,163...186,785,731 		JBrowse link
Thrombocytopenic Purpura term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gp9 glycoprotein IX (platelet) ISO RGD PMID:23103637 RGD:11040532 NCBI chr 4:121,792,842...121,794,452
Ensembl chr 4:121,792,653...121,794,475 		JBrowse link
G Itga2b integrin subunit alpha 2b ISO RGD PMID:11493456 RGD:2316362 NCBI chr10:87,908,697...87,926,225
Ensembl chr10:87,908,697...87,925,833 		JBrowse link
G Itgb3 integrin subunit beta 3 ISO associated with HIV Infections RGD PMID:11493456 PMID:8565280 RGD:2316362, RGD:10755471 NCBI chr10:90,009,927...90,067,787
Ensembl chr10:90,009,900...90,067,800 		JBrowse link
G Vwf von Willebrand factor ISO RGD PMID:14727254 RGD:1580644 NCBI chr 4:160,042,900...160,177,757
Ensembl chr 4:160,047,982...160,177,757 		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 3:30,697,354...30,736,539
Ensembl chr 3:30,697,942...30,736,540 		JBrowse link
G Atrip ATR interacting protein ISO ClinVar Annotator: match by term: Thrombotic microangiopathy ClinVar PMID:29941221 NCBI chr 8:118,586,909...118,600,975
Ensembl chr 8:118,586,909...118,600,944 		JBrowse link
G C3 complement C3 treatment IDA RGD PMID:11532096 RGD:5129554 NCBI chr 9:2,174,412...2,201,339
Ensembl chr 9:2,174,412...2,201,339 		JBrowse link
G Cd46 CD46 molecule ISO ClinVar Annotator: match by term: Thrombotic microangiopathy ClinVar PMID:16199547 PMID:16621965 PMID:16762990 PMID:23431077 PMID:23519521 More... NCBI chr13:109,104,122...109,134,903 JBrowse link
G Cfh complement 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 chr13:54,063,079...54,164,523
Ensembl chr13:54,062,531...54,164,532 		JBrowse link
G Cfi complement 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 2:221,062,206...221,104,790
Ensembl chr 2:221,062,212...221,104,786 		JBrowse link
G Cpb2 carboxypeptidase B2 ISO DNA:polymorphism: ;1542C>G(human) RGD PMID:17327284 RGD:7243121 NCBI chr15:56,967,128...57,015,964
Ensembl chr15:56,966,839...57,015,962 		JBrowse link
G F3 coagulation factor III, tissue factor ISO RGD PMID:19535796 RGD:11341690 NCBI chr 2:212,511,675...212,523,375
Ensembl chr 2:212,511,680...212,523,369 		JBrowse link
G Fgg fibrinogen gamma chain ISO RGD PMID:17038160 RGD:11352673 NCBI chr 2:170,652,929...170,660,372
Ensembl chr 2:170,652,234...170,661,170 		JBrowse link
G Gp6 glycoprotein VI ISO protein:increased expression:plasma (human) RGD PMID:24325877 RGD:401794444 NCBI chr 1:78,471,900...78,535,374
Ensembl chr 1:78,508,468...78,535,374 		JBrowse link
G Itgb3 integrin subunit beta 3 ISO associated with Chronic Allograft Dysfunction;protein:increased expression:arteriole RGD PMID:18234279 RGD:10755463 NCBI chr10:90,009,927...90,067,787
Ensembl chr10:90,009,900...90,067,800 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility ISO DNA:transition:cds:g.677C>T (human) RGD PMID:19448163 RGD:6893633 NCBI chr 5:163,748,346...163,768,141
Ensembl chr 5:163,748,321...163,768,105 		JBrowse link
G Nos2 nitric oxide synthase 2 IEP protein:Increased expression:kidney:neutrophil, endothelial cell, kidney: RGD PMID:10908153 RGD:11533936 NCBI chr10:64,313,335...64,349,221
Ensembl chr10:64,313,335...64,401,880 		JBrowse link
G Nos3 nitric oxide synthase 3 IEP protein:decreased expression:kidney: RGD PMID:10908153 RGD:11533936 NCBI chr 4:11,686,088...11,706,604
Ensembl chr 4:11,686,268...11,706,664 		JBrowse link
G Trex1 three prime repair exonuclease 1 ISO ClinVar Annotator: match by term: Thrombotic microangiopathy ClinVar PMID:29941221 NCBI chr 8:118,585,082...118,586,382
Ensembl chr 8:118,585,081...118,586,083 		JBrowse link
G Vegfa vascular endothelial growth factor A ISO CTD Direct Evidence: marker/mechanism CTD PMID:22808199 NCBI chr 9:22,452,854...22,468,194
Ensembl chr 9:22,439,392...22,468,194 		JBrowse link
G Vwf von Willebrand factor disease_progression ISO protein:increased expression:plasma RGD PMID:21153061 PMID:20439183 RGD:7205650, RGD:7207026 NCBI chr 4:160,042,900...160,177,757
Ensembl chr 4:160,047,982...160,177,757 		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 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 3:30,697,354...30,736,539
Ensembl chr 3:30,697,942...30,736,540 		JBrowse link
G Cd36 CD36 molecule ISO RGD PMID:7529543 RGD:11041104 NCBI chr 4:18,209,088...18,302,142 JBrowse link
G F3 coagulation factor III, tissue factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:7740478 NCBI chr 2:212,511,675...212,523,375
Ensembl chr 2:212,511,680...212,523,369 		JBrowse link
G Proc protein C, inactivator of coagulation factors Va and VIIIa ISO RGD PMID:10936861 RGD:11100014 NCBI chr18:24,038,596...24,049,061
Ensembl chr18:24,038,597...24,048,964 		JBrowse link
G RT1-Bb RT1 class II, locus Bb ISO DNA:polymorphisms:cds:HLA-DQB1*0301 (human) RGD PMID:19922436 RGD:11041754 NCBI chr20:4,598,475...4,604,118
Ensembl chr20:4,598,475...4,604,118 		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 3:89,939,862...89,989,253
Ensembl chr 3:89,939,868...89,980,742 		JBrowse link
G Thbd thrombomodulin ISO CTD Direct Evidence: marker/mechanism CTD PMID:7740478 NCBI chr 3:156,316,526...156,320,178
Ensembl chr 3:156,306,632...156,320,582 		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 ClinVar Annotator: match by term: Moschowitz syndrome
human protein in a rat model 		ClinVar
RGD		 PMID:16796708 PMID:16807643 PMID:17003922 PMID:18031293 PMID:22529288 More... RGD:10449039, RGD:10449097 NCBI chr 3:30,697,354...30,736,539
Ensembl chr 3:30,697,942...30,736,540 		JBrowse link
G Vwf von Willebrand factor treatment ISO RGD PMID:26863353 RGD:11079195 NCBI chr 4:160,042,900...160,177,757
Ensembl chr 4:160,047,982...160,177,757 		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 WITH BETA-THALASSEMIA, X-LINKED
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:871527 PMID:12200364 PMID:14691578 PMID:16783379 PMID:17148589 More... NCBI chr  X:17,193,291...17,209,462
Ensembl chr  X:17,201,633...17,209,459 		JBrowse link
X-Linked Thrombocytopenia, Intermittent term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Was WASP actin nucleation promoting factor ISO ClinVar Annotator: match by term: THROMBOCYTOPENIA, X-LINKED, INTERMITTENT ClinVar PMID:11877312 NCBI chr  X:17,077,057...17,085,802
Ensembl chr  X:17,073,314...17,085,802 		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
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
RGD		 PMID:871527 PMID:3164080 PMID:9536098 PMID:10700180 PMID:11418466 More... RGD:10450749, RGD:10450743, RGD:10450740 NCBI chr  X:17,193,291...17,209,462
Ensembl chr  X:17,201,633...17,209,459 		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:34,179,279...34,201,989
Ensembl chr  X:34,179,311...34,201,986 		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 8:109,018,364...109,030,092
Ensembl chr 8:109,018,325...109,031,406 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      hematopoietic system disease 3839
        blood coagulation disease 1444
          hemorrhagic disease 1397
            blood platelet disease 452
              thrombocytopenia 327
                Acquired Pure Megakaryocytic Aplasia 0
                Braddock Carey Syndrome + 1
                DK Phocomelia Syndrome 0
                Evans' syndrome + 9
                Forsythe-Wakeling Syndrome 0
                Gardner Morrisson Abbot Syndrome 0
                Giant Platelet Syndrome with Thrombocytopenia 1
                IVIC syndrome 1
                Isolated Macrothrombocytopenia + 2
                Jacobsen Syndrome + 68
                Kasabach-Merritt Syndrome + 2
                MYH-9 related disease + 2
                Neonatal Alloimmune Thrombocytopenia 3
                Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia + 3
                Rhizomelic Osteochondrodysplasia with Callosal Agenesis, Thrombocytopenia, Hydrocephalus, and Hypertension 0
                Spastic Paraplegia and Evans Syndrome 0
                THROMBOCYTOPENIA 13 1
                Takenouchi-Kosaki Syndrome 1
                Tetraphocomelia-Thrombocytopenia Syndrome 0
                Thrombocytopenia 1 43
                Thrombocytopenia 10 1
                Thrombocytopenia 11 1
                Thrombocytopenia 12 1
                Thrombocytopenia 2 3
                Thrombocytopenia 3 1
                Thrombocytopenia 4 1
                Thrombocytopenia 5 2
                Thrombocytopenia 6 1
                Thrombocytopenia 7 2
                Thrombocytopenia 8 1
                Thrombocytopenia 9 1
                Thrombocytopenia Absent Ulnar Syndrome 0
                Thrombocytopenia with Elevated Serum Iga and Renal Disease 0
                Thrombocytopenia, Anemia, and Myelofibrosis 1
                Thrombocytopenia, Cyclic 0
                Thrombotic Microangiopathies + 94
                X-Linked Thrombocytopenia, Intermittent 1
                X-Linked Thrombocytopenia, with or without Dyserythropoietic Anemia 2
                X-linked thrombocytopenia with beta-thalassemia 1
                XEROSIS AND GROWTH FAILURE WITH IMMUNE AND PULMONARY DYSFUNCTION SYNDROME 1
                acquired thrombocytopenia + 11
                congenital amegakaryocytic thrombocytopenia + 2
                congenital disorder of glycosylation Ix 1
                platelet-type bleeding disorder 15 2
                platelet-type bleeding disorder 17 1
                platelet-type bleeding disorder 9 2
                thrombocytopenia due to platelet alloimmunization + 5
                thrombocytopenia-absent radius syndrome 27
                transient neonatal thrombocytopenia 0
Path 2
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      Hemic and Lymphatic Diseases 4332
        hematopoietic system disease 3839
          blood coagulation disease 1444
            hemorrhagic disease 1397
              blood platelet disease 452
                thrombocytopenia 327
                  Acquired Pure Megakaryocytic Aplasia 0
                  Braddock Carey Syndrome + 1
                  DK Phocomelia Syndrome 0
                  Evans' syndrome + 9
                  Forsythe-Wakeling Syndrome 0
                  Gardner Morrisson Abbot Syndrome 0
                  Giant Platelet Syndrome with Thrombocytopenia 1
                  IVIC syndrome 1
                  Isolated Macrothrombocytopenia + 2
                  Jacobsen Syndrome + 68
                  Kasabach-Merritt Syndrome + 2
                  MYH-9 related disease + 2
                  Neonatal Alloimmune Thrombocytopenia 3
                  Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia + 3
                  Rhizomelic Osteochondrodysplasia with Callosal Agenesis, Thrombocytopenia, Hydrocephalus, and Hypertension 0
                  Spastic Paraplegia and Evans Syndrome 0
                  THROMBOCYTOPENIA 13 1
                  Takenouchi-Kosaki Syndrome 1
                  Tetraphocomelia-Thrombocytopenia Syndrome 0
                  Thrombocytopenia 1 43
                  Thrombocytopenia 10 1
                  Thrombocytopenia 11 1
                  Thrombocytopenia 12 1
                  Thrombocytopenia 2 3
                  Thrombocytopenia 3 1
                  Thrombocytopenia 4 1
                  Thrombocytopenia 5 2
                  Thrombocytopenia 6 1
                  Thrombocytopenia 7 2
                  Thrombocytopenia 8 1
                  Thrombocytopenia 9 1
                  Thrombocytopenia Absent Ulnar Syndrome 0
                  Thrombocytopenia with Elevated Serum Iga and Renal Disease 0
                  Thrombocytopenia, Anemia, and Myelofibrosis 1
                  Thrombocytopenia, Cyclic 0
                  Thrombotic Microangiopathies + 94
                  X-Linked Thrombocytopenia, Intermittent 1
                  X-Linked Thrombocytopenia, with or without Dyserythropoietic Anemia 2
                  X-linked thrombocytopenia with beta-thalassemia 1
                  XEROSIS AND GROWTH FAILURE WITH IMMUNE AND PULMONARY DYSFUNCTION SYNDROME 1
                  acquired thrombocytopenia + 11
                  congenital amegakaryocytic thrombocytopenia + 2
                  congenital disorder of glycosylation Ix 1
                  platelet-type bleeding disorder 15 2
                  platelet-type bleeding disorder 17 1
                  platelet-type bleeding disorder 9 2
                  thrombocytopenia due to platelet alloimmunization + 5
                  thrombocytopenia-absent radius syndrome 27
                  transient neonatal thrombocytopenia 0
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