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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
 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.

GViewer not supported for the selected species.

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 chr14:63,414,241...63,439,193
Ensembl chr14:63,413,691...63,438,917 		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 chr14:63,389,817...63,420,048
Ensembl chr14:63,390,433...63,413,906 		JBrowse link
G ACBD5 acyl-CoA binding domain containing 5 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:26,795,072...26,844,013
Ensembl chr 9:26,794,822...26,842,134 		JBrowse link
G ACTB actin beta ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:10411937 PMID:25255767 PMID:25741868 PMID:30315159 NCBI chr28:16,195,676...16,197,161
Ensembl chr12:52,426,752...52,427,879 		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 chr24:46,089,989...46,196,897
Ensembl chr24:46,085,751...46,196,886 		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 chr11:48,063,099...48,091,705
Ensembl chr11:48,082,135...48,093,630 		JBrowse link
G ALB albumin ISO CTD Direct Evidence: marker/mechanism CTD PMID:6734075 NCBI chr 7:21,872,036...21,890,095
Ensembl chr 7:21,876,132...21,891,407 		JBrowse link
G ANKRD26 ankyrin repeat domain containing 26 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:10521306 PMID:20626622 PMID:21211618 PMID:21467542 PMID:22672365 More... NCBI chr 9:26,601,072...26,693,238
Ensembl chr 9:26,599,966...26,693,217 		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 4:72,225,658...72,524,971
Ensembl chr 4:72,225,599...72,524,933 		JBrowse link
G ASPG asparaginase ISO CTD Direct Evidence: marker/mechanism CTD PMID:2187653 NCBI chr24:82,021,590...82,049,281
Ensembl chr24:82,021,726...82,049,355 		JBrowse link
G BRIP1 BRCA1 interacting DNA helicase 1 ISO human gene in a mouse model RGD PMID:15613547 RGD:11252148 NCBI chr16:32,909,226...33,085,551
Ensembl chr16:32,910,693...33,082,587 		JBrowse link
G CD40LG CD40 ligand treatment ISO associated with Malaria RGD PMID:11865192 RGD:11352243 NCBI chr  X:111,655,301...111,667,602
Ensembl chr  X:111,655,397...111,666,639 		JBrowse link
G CHEK2 checkpoint kinase 2 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:10617473 PMID:11053450 PMID:11479205 PMID:11719428 PMID:11967536 More... NCBI chr19:11,567,529...11,621,180
Ensembl chr19:11,567,528...11,604,792 		JBrowse link
G CLIC6 chloride intracellular channel 6 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:32581362 NCBI chr 2:78,703,815...78,752,183 JBrowse link
G COL5A1 collagen type V alpha 1 chain ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:28492532 PMID:29924831 NCBI chr12:3,301,643...3,507,300
Ensembl chr12:3,301,175...3,459,607 		JBrowse link
G COL5A2 collagen type V alpha 2 chain ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:25741868 PMID:28492532 NCBI chr10:74,509,704...74,659,251
Ensembl chr10:74,507,772...74,659,366 		JBrowse link
G CSF2 colony stimulating factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8297739 NCBI chr23:34,906,987...34,911,252
Ensembl chr23:34,908,911...34,911,140 		JBrowse link
G CSF3 colony stimulating factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:7543699 PMID:12085204 NCBI chr16:66,162,814...66,166,192
Ensembl chr16:66,163,681...66,165,172 		JBrowse link
G CYCS cytochrome c, somatic no_association ISO ClinVar Annotator: match by term: Thrombocytopenia RGD
ClinVar		 PMID:18345000 PMID:19172527 PMID:22102269 PMID:24326104 PMID:25741868 More... RGD:11352702 NCBI chr21:33,251,825...33,253,298 JBrowse link
G DHX34 DExH-box helicase 34 ISO ClinVar Annotator: match by term: Predisposition to thrombocytopenia ClinVar NCBI chr 6:40,680,406...40,717,512
Ensembl chr 6:40,680,468...40,717,354 		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 chr14:63,441,948...63,481,460
Ensembl chr14:63,440,155...63,481,479 		JBrowse link
G EPO erythropoietin ISO CTD Direct Evidence: therapeutic CTD PMID:8260696 NCBI chr28:12,487,222...12,491,986
Ensembl chr28:12,489,766...12,491,908 		JBrowse link
G ETV6 ETS variant transcription factor 6 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:9694803 PMID:15806161 PMID:18305557 PMID:21680795 PMID:21714648 More... NCBI chr11:11,567,522...11,812,292
Ensembl chr11:11,567,632...11,811,716 		JBrowse link
G F10 coagulation factor X ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:25741868 NCBI chr 3:91,125,097...91,154,000
Ensembl chr 3:91,124,766...91,157,376 		JBrowse link
G F11 coagulation factor XI ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:2052060 PMID:2813350 PMID:9326232 PMID:10593931 PMID:15026311 More... NCBI chr 7:132,180,026...132,207,081
Ensembl chr 7:132,180,336...132,208,155 		JBrowse link
G F5 coagulation factor V ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:25741868 PMID:28492532 PMID:34355501 NCBI chr25:59,465,610...59,539,022
Ensembl chr25:59,466,378...59,538,872 		JBrowse link
G F7 coagulation factor VII treatment ISO human protein in a rat model RGD PMID:19175492 RGD:11049531 NCBI chr 3:91,109,864...91,122,707
Ensembl chr 3:91,110,380...91,123,327 		JBrowse link
G FCGR2A Fc gamma receptor IIa ISO CTD Direct Evidence: marker/mechanism RGD
CTD		 PMID:10201963 PMID:11588041 RGD:11040944 NCBI chr20:2,480,710...2,512,429 JBrowse link
G FGA fibrinogen alpha chain treatment ISO ClinVar Annotator: match by term: Thrombocytopenia RGD
ClinVar		 PMID:2005585 PMID:28492532 RGD:10755505 NCBI chr 7:101,127,554...101,134,881
Ensembl chr 7:101,125,791...101,134,405 		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 7:101,106,468...101,114,566
Ensembl chr 7:101,106,483...101,114,662 		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 7:101,148,457...101,157,245
Ensembl chr 7:101,148,058...101,157,111 		JBrowse link
G FLI1 Fli-1 proto-oncogene, ETS transcription factor ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:24100448 PMID:32581362 NCBI chr 1:119,817,987...119,945,378
Ensembl chr 1:119,827,222...119,946,662 		JBrowse link
G FLNA filamin A ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:18414213 PMID:21836662 PMID:25741868 PMID:26467025 PMID:28492532 More... NCBI chr  X:128,657,580...128,683,812
Ensembl chr  X:128,657,393...128,680,531 		JBrowse link
G GATA1 GATA binding protein 1 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:11418466 PMID:11809723 PMID:12483298 PMID:20301538 PMID:23278136 More... NCBI chr  X:45,912,638...45,920,415
Ensembl chr  X:45,917,231...45,920,268 		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 chr20:8,598,110...8,631,517
Ensembl chr20:8,598,628...8,630,990 		JBrowse link
G GFI1B growth factor independent 1B transcriptional repressor ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:25741868 PMID:31064749 NCBI chr12:5,145,194...5,158,659
Ensembl chr12:5,145,844...5,150,274 		JBrowse link
G GGCX gamma-glutamyl carboxylase ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:25741868 PMID:28492532 PMID:32935436 NCBI chr14:21,593,202...21,605,800
Ensembl chr14:21,593,088...21,604,885 		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 chr12:44,300,321...44,340,917
Ensembl chr12:44,282,809...44,344,311 		JBrowse link
G GP1BA glycoprotein Ib platelet subunit alpha ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:7833477 PMID:8384898 PMID:9282797 PMID:19951970 PMID:24934643 More... NCBI chr16:4,412,693...4,415,841 JBrowse link
G GP1BB glycoprotein Ib platelet subunit beta ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:10887115 PMID:16978236 PMID:24934643 PMID:25741868 PMID:28064200 More... NCBI chr19:6,020,618...6,021,646 JBrowse link
G GP9 glycoprotein IX platelet ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:8049428 PMID:8481514 PMID:14510954 PMID:16268478 PMID:24934643 More... NCBI chr22:52,000,620...52,013,570
Ensembl chr22:52,000,758...52,001,291 		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 1:46,620,544...46,665,334
Ensembl chr 1:46,619,914...46,664,126 		JBrowse link
G IFNA2 interferon alpha 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8886046 PMID:10520005 PMID:12620292 PMID:15274073 NCBI chr12:58,468,018...58,469,825 JBrowse link
G IL10 interleukin 10 severity ISO associated with Malaria, Vivax RGD PMID:11091188 PMID:25128199 RGD:11041893 RGD:11049172 NCBI chr25:22,590,389...22,595,877
Ensembl chr25:22,590,962...22,594,836 		JBrowse link
G IL1B interleukin 1 beta treatment ISO RGD PMID:1331350 RGD:10450883 NCBI chr14:15,844,628...15,852,652
Ensembl chr14:15,844,672...15,850,729 		JBrowse link
G IL3 interleukin 3 ISO CTD Direct Evidence: therapeutic CTD PMID:8202718 NCBI chr23:34,894,630...34,899,105 JBrowse link
G IL6 interleukin 6 severity ISO associated with Malaria, Vivax RGD PMID:25128199 RGD:11041893 NCBI chr21:35,577,513...35,582,385
Ensembl chr21:35,577,939...35,582,237 		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 4:49,280,289...49,382,101
Ensembl chr 4:49,317,648...49,380,051 		JBrowse link
G ITGA2B integrin subunit alpha 2b ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:1638023 PMID:9215749 PMID:9834222 PMID:18065693 PMID:19805198 More... NCBI chr16:62,001,082...62,019,470
Ensembl chr16:62,001,352...62,019,289 		JBrowse link
G ITGB3 integrin subunit beta 3 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:25741868 PMID:28492532 PMID:31064749 PMID:32581362 NCBI chr16:59,372,171...59,431,434
Ensembl chr16:59,374,889...59,410,857 		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 		RGD
CTD		 PMID:18662289 PMID:24519039 RGD:10766473 NCBI chr 2:33,873,231...33,893,329
Ensembl chr 2:33,873,339...33,893,556 		JBrowse link
G KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:32581362 NCBI chr 2:78,500,755...78,557,275
Ensembl chr 2:78,503,317...78,503,757 		JBrowse link
G KCNE2 potassium voltage-gated channel subfamily E regulatory subunit 2 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:32581362 NCBI chr 2:57,833,459...57,841,052
Ensembl chr 2:57,833,629...57,834,000 		JBrowse link
G LOC103218526 carbonyl reductase [NADPH] 1 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:32581362 NCBI chr 2:80,096,743...80,099,982 JBrowse link
G LOC103234659 interferon lambda-3 treatment ISO associated with Hepatitis C, Chronic;DNA:SNP: :rs8099917(human) RGD PMID:24304453 RGD:11528555 NCBI chr 6:33,843,140...33,845,444 JBrowse link
G LOC103242710 C-C motif chemokine 2 ISO associated with Lupus Erythematosus, Systemic;DNA:snp:promoter:g.-2518A>G (human) RGD PMID:20414371 RGD:11528535 NCBI chr16:27,763,354...27,765,437
Ensembl chr16:27,763,555...27,765,416 		JBrowse link
G MASTL microtubule associated serine/threonine kinase like ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:26,752,354...26,786,802
Ensembl chr 9:26,753,331...26,787,019 		JBrowse link
G MBL2 mannose binding lectin 2 susceptibility ISO associated with Dengue;DNA:SNP:exon: RGD PMID:18361938 RGD:11530042 NCBI chr 9:78,389,534...78,394,753
Ensembl chr 9:78,389,947...78,396,079 		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 chr14:60,273,274...60,283,919
Ensembl chr14:60,273,296...60,287,200 		JBrowse link
G MECOM MDS1 and EVI1 complex locus ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:32581362 NCBI chr15:19,726,423...20,320,832
Ensembl chr15:20,256,384...20,320,834 		JBrowse link
G MPL MPL proto-oncogene, thrombopoietin receptor ameliorates ISO associated with End Stage Liver Disease
ClinVar Annotator: match by term: Thrombocytopenia 		RGD
ClinVar		 PMID:971406 PMID:8073287 PMID:10971404 PMID:10971406 PMID:11133753 More... RGD:126925754 NCBI chr20:89,457,549...89,474,756
Ensembl chr20:89,459,493...89,474,352 		JBrowse link
G MRPS6 mitochondrial ribosomal protein S6 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:32581362 NCBI chr 2:58,062,923...58,130,815
Ensembl chr 2:58,063,353...58,130,637 		JBrowse link
G MTHFR methylenetetrahydrofolate reductase no_association ISO associated with Precursor Cell Lymphoblastic Leukemia-Lymphoma;DNA:SNP: :677C>T, 1793G>A (human)
CTD Direct Evidence: marker/mechanism
associated with Precursor Cell Lymphoblastic Leukemia-Lymphoma;DNA:SNP: :1298A>C (human) 		RGD
CTD		 PMID:19391036 PMID:23498762 RGD:10449418 NCBI chr20:119,987,667...120,003,611
Ensembl chr20:119,990,133...120,002,950 		JBrowse link
G MYH9 myosin heavy chain 9 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:1449176 PMID:10973259 PMID:11159552 PMID:11590545 PMID:11776386 More... NCBI chr19:18,985,709...19,093,304
Ensembl chr19:18,986,598...19,052,671 		JBrowse link
G NBEAL2 neurobeachin like 2 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:25741868 PMID:28492532 PMID:32935436 PMID:33161638 NCBI chr22:8,385,109...8,414,553
Ensembl chr22:8,385,229...8,414,655 		JBrowse link
G NSD2 nuclear receptor binding SET domain protein 2 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:25741868 NCBI chr27:46,787,325...46,896,898
Ensembl chr27:46,787,154...46,867,792 		JBrowse link
G P2RY12 purinergic receptor P2Y12 ISO associated with Thrombosis RGD PMID:21652673 RGD:6480523 NCBI chr15:39,315,140...39,361,614
Ensembl chr15:39,359,612...39,360,637 		JBrowse link
G PECAM1 platelet and endothelial cell adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10848805 NCBI chr16:56,863,763...56,947,479
Ensembl chr16:56,880,934...56,950,999 		JBrowse link
G PLCB2 phospholipase C beta 2 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:25741868 NCBI chr26:42,706,462...42,727,516
Ensembl chr26:42,707,625...42,727,145 		JBrowse link
G PLG plasminogen ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:25741868 PMID:28492532 PMID:34355501 NCBI chr13:88,266,054...88,321,596
Ensembl chr13:88,268,198...88,322,644 		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 chr11:107,658,495...107,754,457
Ensembl chr11:107,658,453...107,752,637 		JBrowse link
G RCAN1 regulator of calcineurin 1 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:32581362 NCBI chr 2:78,561,212...78,658,023
Ensembl chr 2:78,562,795...78,571,498 		JBrowse link
G SEPTIN5 septin 5 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:10887115 PMID:16978236 PMID:24934643 PMID:25741868 PMID:28064200 More... NCBI chr19:6,022,074...6,030,880
Ensembl chr19:6,020,917...6,030,821 		JBrowse link
G SETD4 SET domain containing 4 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:32581362 NCBI chr 2:80,062,582...80,105,863
Ensembl chr 2:80,062,040...80,085,474 		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 chr16:62,126,370...62,146,192
Ensembl chr16:62,131,709...62,146,182 		JBrowse link
G SLC5A3 solute carrier family 5 member 3 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:32581362 NCBI chr 2:58,104,938...58,131,225 JBrowse link
G SMIM11 small integral membrane protein 11 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:32581362 NCBI chr 2:57,814,536...57,828,761 JBrowse link
G SPARC secreted protein acidic and cysteine rich ISO CTD Direct Evidence: marker/mechanism CTD PMID:27725143 NCBI chr23:54,224,003...54,248,869
Ensembl chr23:54,222,838...54,238,006 		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 chr 6:7,123,564...7,133,459
Ensembl chr 6:7,123,597...7,133,460 		JBrowse link
G TBXA2R thromboxane A2 receptor ISO RGD PMID:2528013 RGD:11059527 NCBI chr 6:3,354,358...3,365,779
Ensembl chr 6:3,355,314...3,359,761 		JBrowse link
G TGFB1 transforming growth factor beta 1 ISO protein:decreased expression:plasma: RGD PMID:22134166 RGD:11073617 NCBI chr 6:35,651,583...35,674,387
Ensembl chr 6:35,648,677...35,674,365 		JBrowse link
G THBD thrombomodulin ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:10102456 PMID:11552992 PMID:11986219 PMID:19625716 PMID:20595690 More... NCBI chr 2:52,041,950...52,045,946
Ensembl chr 2:52,043,746...52,045,626 		JBrowse link
G THPO thrombopoietin ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:25741868 PMID:28466964 PMID:28559357 PMID:31064749 PMID:32150607 NCBI chr15:5,040,684...5,048,387 JBrowse link
G TNF tumor necrosis factor severity ISO associated with Malaria, Vivax
associated with Hemorrhagic Fever with Renal Syndrome;DNA:SNP:promoter:-238G>A (human) 		RGD PMID:16987073 PMID:25128199 RGD:10449459 RGD:11041893
G TNFRSF10A TNF receptor superfamily member 10a ISO CTD Direct Evidence: marker/mechanism CTD PMID:19652058 NCBI chr 8:21,318,987...21,351,641
Ensembl chr 8:21,315,149...21,351,673 		JBrowse link
G TUBB1 tubulin beta 1 class VI ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:24777453 PMID:25741868 PMID:27346686 PMID:28054583 PMID:28492532 More... NCBI chr 2:5,115,488...5,123,089
Ensembl chr 2:5,117,326...5,122,845 		JBrowse link
G VPS33B VPS33B late endosome and lysosome associated ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:25741868 PMID:28492532 NCBI chr29:8,838,289...8,862,914
Ensembl chr29:8,838,735...8,862,977 		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 chr11:5,994,499...6,176,949
Ensembl chr11:5,994,039...6,162,260 		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:45,809,418...45,817,165
Ensembl chr  X:45,809,189...45,817,667 		JBrowse link
G WDR1 WD repeat domain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17515402 NCBI chr27:39,929,749...39,973,892
Ensembl chr27:39,929,787...39,974,012 		JBrowse link
G XDH xanthine dehydrogenase ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:25741868 PMID:28492532 PMID:30755392 NCBI chr14:76,084,693...76,162,840
Ensembl chr14:76,085,368...76,163,936 		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 ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:1787257 PMID:12753286 PMID:17187257 PMID:17627784 PMID:19847791 More... NCBI chr12:4,677,237...4,718,825
Ensembl chr12:4,677,229...4,714,386 		JBrowse link
G BAAT bile acid-CoA:amino acid N-acyltransferase ISO ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1 ClinVar PMID:17182750 PMID:20301541 NCBI chr12:38,055,100...38,082,969
Ensembl chr12:38,073,329...38,081,927 		JBrowse link
G C1GALT1C1 C1GALT1 specific chaperone 1 ISO ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:25741868 PMID:36599939
G C2 complement C2 ISO ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:1577763 PMID:2249879 PMID:6308626 PMID:8181962 PMID:9616367 More... NCBI chr17:40,069,852...40,094,478
Ensembl chr17:40,069,909...40,094,207 		JBrowse link
G C3 complement C3 ISO 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: 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, 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, 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
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
OMIM		 PMID:1879662 PMID:1976733 PMID:6103091 PMID:7961791 PMID:9536098 More... NCBI chr 6:6,250,422...6,289,264 JBrowse link
G C3AR1 complement C3a receptor 1 ISO ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1 ClinVar NCBI chr11:8,128,192...8,135,517
Ensembl chr11:8,128,620...8,130,062 		JBrowse link
G CD46 CD46 molecule susceptibility
severity 		ISO 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
DNA:mutations:cds:multiple (human) 		OMIM
ClinVar
RGD		 PMID:270646 PMID:2431077 PMID:3480783 PMID:9536098 PMID:9551389 More... RGD:11038684 NCBI chr25:21,650,825...21,693,898
Ensembl chr25:21,655,969...21,693,878 		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 chr11:83,420,911...83,515,466
Ensembl chr11:83,412,379...83,514,596 		JBrowse link
G CFB complement factor B ISO ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome 		ClinVar
OMIM		 PMID:1577763 PMID:2249879 PMID:6308626 PMID:7452889 PMID:8181962 More... Ensembl chr17:40,069,909...40,094,207 JBrowse link
G CFH complement factor H ISO 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
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, 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, 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
OMIM		 PMID:646435 PMID:3418956 PMID:8072530 PMID:9536098 PMID:9551389 More... NCBI chr25:32,557,697...32,744,763 JBrowse link
G CFHR2 complement factor H related 2 ISO ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:25741868 NCBI chr25:32,456,728...32,472,339
Ensembl chr25:32,455,875...32,471,887 		JBrowse link
G CFHR5 complement factor H related 5 ISO ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:16299065 PMID:17000000 PMID:19365580 PMID:24033266 PMID:25741868 More... NCBI chr25:32,411,268...32,440,499
Ensembl chr25:32,410,158...32,439,961 		JBrowse link
G CFI complement factor I susceptibility ISO ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 6 | 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, 3 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome
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
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
OMIM		 PMID:849647 PMID:8613545 PMID:9536098 PMID:15173250 PMID:15917334 More... NCBI chr 7:57,641,363...57,713,209
Ensembl chr 7:57,640,141...57,700,805 		JBrowse link
G COL4A3 collagen type IV alpha 3 chain ISO ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr10:113,183,843...113,338,230
Ensembl chr10:113,257,483...113,335,312 		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 chr10:113,028,552...113,183,240
Ensembl chr10:113,028,552...113,165,958 		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:96,307,927...96,570,592 JBrowse link
G DGKE diacylglycerol kinase epsilon ISO ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1 | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 7 ClinVar PMID:23274426 PMID:23542698 PMID:24511134 PMID:24747643 PMID:25135762 More... NCBI chr16:36,540,155...36,575,506
Ensembl chr16:36,546,670...36,574,820 		JBrowse link
G LAMB2 laminin subunit beta 2 ISO ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr22:10,523,763...10,535,733
Ensembl chr22:10,523,717...10,536,207 		JBrowse link
G LOC103230383 complement factor H-related protein 4 ISO ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr25:32,488,314...32,609,868
Ensembl chr25:32,487,816...32,507,705 		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 chr20:87,279,028...87,289,444
Ensembl chr20:87,279,254...87,289,490 		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 chr19:18,985,709...19,093,304
Ensembl chr19:18,986,598...19,052,671 		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 chr25:84,431,436...84,463,387
Ensembl chr25:84,434,527...84,463,249 		JBrowse link
G NPHP3 nephrocystin 3 ISO ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:25741868 PMID:26184788 PMID:28492532 NCBI chr15:57,550,878...57,629,106
Ensembl chr15:57,551,189...57,592,661 		JBrowse link
G NPHP4 nephrocystin 4 ISO ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr20:125,739,075...125,878,088
Ensembl chr20:125,744,295...125,874,482 		JBrowse link
G PLA2R1 phospholipase A2 receptor 1 ISO ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:25741868 NCBI chr10:45,331,865...45,458,389
Ensembl chr10:45,341,383...45,440,840 		JBrowse link
G PLG plasminogen ISO ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr13:88,266,054...88,321,596
Ensembl chr13:88,268,198...88,322,644 		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 chr10:102,253,187...102,319,356
Ensembl chr10:102,255,453...102,319,330 		JBrowse link
G THBD thrombomodulin no_association
susceptibility
severity 		ISO DNA:SNPs:5' utr, 3' utr:multiple
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 		RGD
OMIM
ClinVar		 PMID:7811989 PMID:9157575 PMID:9198186 PMID:9236408 PMID:10102456 More... RGD:11038684 RGD:11038691 NCBI chr 2:52,041,950...52,045,946
Ensembl chr 2:52,043,746...52,045,626 		JBrowse link
G TMEM67 transmembrane protein 67 ISO ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:88,726,783...88,818,111
Ensembl chr 8:88,726,837...88,792,049 		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 1:92,828,546...92,970,224
Ensembl chr 1:92,829,253...92,885,086 		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 1:32,750,300...32,801,832 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 chr12:4,677,237...4,718,825
Ensembl chr12:4,677,229...4,714,386 		JBrowse link
G ALB albumin ISO RGD PMID:6683982 RGD:11036083 NCBI chr 7:21,872,036...21,890,095
Ensembl chr 7:21,876,132...21,891,407 		JBrowse link
G CD40 CD40 molecule ISO protein:increased expression:peripheral blood, B lymphocyte (human) RGD PMID:17654056 RGD:11344977 NCBI chr 2:17,753,713...17,765,134
Ensembl chr 2:17,753,394...17,764,566 		JBrowse link
G CD40LG CD40 ligand treatment ISO protein:decreased expression:serum (mouse)
protein:increased expression:peripheral blood, T lymphocyte (human) 		RGD PMID:16188945 PMID:17654056 PMID:18341638 PMID:22537155 RGD:11344977 RGD:11344980 RGD:11352237 RGD:11352267 NCBI chr  X:111,655,301...111,667,602
Ensembl chr  X:111,655,397...111,666,639 		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 chr22:58,741,534...58,805,417
Ensembl chr22:58,741,525...58,805,366 		JBrowse link
G DNMT3A DNA methyltransferase 3 alpha ISO mRNA:decreased expression:mononuclear cell RGD PMID:18683034 RGD:9588662 NCBI chr14:82,313,414...82,427,170
Ensembl chr14:82,402,826...82,420,819 		JBrowse link
G DNMT3B DNA methyltransferase 3 beta susceptibility ISO DNA:SNP:promoter: -579G>T(human)
mRNA:decreased expression:mononuclear cell 		RGD PMID:18683034 PMID:23000068 RGD:9588662 RGD:9589094 NCBI chr 2:37,128,635...37,176,033
Ensembl chr 2:37,146,538...37,174,570 		JBrowse link
G FCGR2A Fc gamma receptor IIa susceptibility
no_association
treatment 		ISO DNA:SNP:cds:p.R131H (human) RGD PMID:21131591 PMID:22123287 PMID:23249566 RGD:11040933 RGD:11040989 RGD:11040990 NCBI chr20:2,480,710...2,512,429 JBrowse link
G FCGR2B Fc gamma receptor IIb treatment
disease_progression 		ISO DNA:SNP: :p.I232T (human) RGD PMID:15566359 PMID:19549396 PMID:21045192 PMID:21131591 PMID:22257295 RGD:11040933 RGD:11344927 RGD:11344928 RGD:11344931 RGD:11344955 NCBI chr20:2,398,425...2,413,328 JBrowse link
G GP1BA glycoprotein Ib platelet subunit alpha ISO RGD PMID:16861348 RGD:10450841 NCBI chr16:4,412,693...4,415,841 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:22677268 PMID:25051072 RGD:11041894 RGD:11046267 NCBI chr25:22,590,389...22,595,877
Ensembl chr25:22,590,962...22,594,836 		JBrowse link
G IL18 interleukin 18 ISO protein:increased expression:plasma: RGD PMID:24801815 RGD:11073600 NCBI chr 1:103,485,868...103,511,632
Ensembl chr 1:103,482,083...103,510,150 		JBrowse link
G IL1A interleukin 1 alpha ISO DNA:SNP:promoter:-899C>T (human) RGD PMID:21591983 RGD:11051966 NCBI chr14:15,789,710...15,801,938
Ensembl chr14:15,789,013...15,796,611 		JBrowse link
G IL1RN interleukin 1 receptor antagonist susceptibility ISO DNA:repeats:: RGD PMID:20626741 RGD:11528541 NCBI chr14:16,136,667...16,152,451
Ensembl chr14:16,146,333...16,151,326 		JBrowse link
G IL2 interleukin 2 susceptibility ISO DNA:polymorphism::-330T>G(human) RGD PMID:20626741 RGD:11528541 NCBI chr 7:69,729,635...69,736,279
Ensembl chr 7:69,730,282...69,734,969 		JBrowse link
G IL4 interleukin 4 disease_progression ISO DNA:repeat:intron RGD PMID:25051072 RGD:11041894 NCBI chr23:35,492,158...35,501,349
Ensembl chr23:35,492,939...35,501,258 		JBrowse link
G ITGB3 integrin subunit beta 3 ISO RGD PMID:10936026 PMID:24258817 RGD:10755473 RGD:10755475 NCBI chr16:59,372,171...59,431,434
Ensembl chr16:59,374,889...59,410,857 		JBrowse link
G LOC103223675 low affinity immunoglobulin gamma Fc region receptor III-A treatment
susceptibility 		ISO DNA:SNP:exon:p.F158V (rs396991) (human)
DNA:SNP:cds:p.V158F(human) 		RGD PMID:11380443 PMID:15479722 PMID:22123287 PMID:23484707 RGD:11040776 RGD:11040989 RGD:11344926 RGD:11352255 NCBI chr20:2,466,492...2,475,579 JBrowse link
G PLAT plasminogen activator, tissue type ISO protein:increased expression:plasma (human) RGD PMID:2129164 RGD:11541072 NCBI chr 8:40,164,391...40,196,627
Ensembl chr 8:40,163,891...40,196,555 		JBrowse link
G PTPN22 protein tyrosine phosphatase non-receptor type 22 no_association ISO DNA:snp:cds:c.1858C>T (rs2476601) (human)
DNA: snp: cds: C1858T 		RGD PMID:21597364 PMID:27309885 RGD:11535019 RGD:6484673 NCBI chr20:19,792,807...19,855,784
Ensembl chr20:19,793,083...19,855,827 		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 chr 5:10,731,866...10,733,745
Ensembl chr 5:10,732,350...10,732,991 		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:11073600 RGD:11073603 NCBI chr 6:35,651,583...35,674,387
Ensembl chr 6:35,648,677...35,674,365 		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 OMIM
ClinVar		 PMID:4516618 PMID:18849486 PMID:24344610 PMID:24777453 PMID:25741868 More... NCBI chr 2:5,115,488...5,123,089
Ensembl chr 2:5,117,326...5,122,845 		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 OMIM
autosomal dominant nonsyndromic deafness 17 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYH9 myosin heavy chain 9 ISO ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 17 | ClinVar Annotator: match by term: Deafness, autosomal dominant 17 | ClinVar Annotator: match by term: Deafness, autosomal dominant nonsyndromic sensorineural 17 | ClinVar Annotator: match by term: Late-onset progressive hereditary hearing impairment due to cochleosaccular degeneration OMIM
ClinVar		 PMID:1449176 PMID:5011389 PMID:8280620 PMID:9390828 PMID:10603121 More... NCBI chr19:18,985,709...19,093,304
Ensembl chr19:18,986,598...19,052,671 		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 chr22:6,238,804...6,325,804
Ensembl chr22:6,249,567...6,325,510 		JBrowse link
congenital amegakaryocytic thrombocytopenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MPL MPL proto-oncogene, thrombopoietin receptor ISO ClinVar Annotator: match by term: Congenital amegakaryocytic thrombocytopenia ClinVar PMID:971406 PMID:8073287 PMID:9536098 PMID:10077649 PMID:10971404 More... NCBI chr20:89,457,549...89,474,756
Ensembl chr20:89,459,493...89,474,352 		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 chr20:89,457,549...89,474,756
Ensembl chr20:89,459,493...89,474,352 		JBrowse link
congenital amegakaryocytic thrombocytopenia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G THPO thrombopoietin ISO ClinVar Annotator: match by term: Amegakaryocytic thrombocytopenia, congenital, 2 OMIM
ClinVar		 PMID:24085763 PMID:25741868 PMID:28492532 PMID:28559357 PMID:29191945 More... NCBI chr15:5,040,684...5,048,387 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 chr15:76,060,670...76,165,415
Ensembl chr15:76,060,406...76,165,468 		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 chr16:4,412,693...4,415,841 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 9:92,826,423...92,902,389
Ensembl chr 9:92,841,818...92,902,265 		JBrowse link
G DPYD dihydropyrimidine dehydrogenase treatment ISO associated with Stomach Neoplasms
associated with Neoplasms;DNA:SNP:intron:IVS14+1G>A (human) 		RGD PMID:19473056 PMID:23064955 RGD:11098817 RGD:11251740 NCBI chr20:35,376,738...36,215,388
Ensembl chr20:35,377,266...36,215,679 		JBrowse link
G GSTM1 glutathione S-transferase mu 1 treatment
susceptibility 		ISO associated with diffuse large B-cell lymphoma; DNA:deletion:cds:
associated with Ovarian Neoplasms;DNA:deletion: : (human) 		RGD PMID:19786980 PMID:20303013 RGD:10450835 RGD:5688741 NCBI chr20:23,854,969...23,861,634 JBrowse link
G IL1A interleukin 1 alpha treatment ISO associated with Ovarian Neoplasms
associated with Carcinoma, Non-Small-Cell Lung 		RGD PMID:7666093 PMID:8151314 RGD:11051963 RGD:11051964 NCBI chr14:15,789,710...15,801,938
Ensembl chr14:15,789,013...15,796,611 		JBrowse link
G IL1B interleukin 1 beta treatment ISO associated with Glioblastoma; RGD PMID:1331350 RGD:10450883 NCBI chr14:15,844,628...15,852,652
Ensembl chr14:15,844,672...15,850,729 		JBrowse link
G PECAM1 platelet and endothelial cell adhesion molecule 1 severity ISO RGD PMID:10942385 PMID:17234740 RGD:11541093 RGD:11541120 NCBI chr16:56,863,763...56,947,479
Ensembl chr16:56,880,934...56,950,999 		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 3:81,360,868...81,401,813
Ensembl chr 3:81,368,637...81,403,182 		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 3:81,291,027...81,321,907 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 3:81,406,103...81,441,422
Ensembl chr 3:81,405,872...81,436,040 		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 chr 3:80,304,996...80,978,292
Ensembl chr 3:80,309,110...80,500,510 		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 3:81,240,899...81,251,111
Ensembl chr 3:81,241,412...81,250,502 		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 3:81,338,288...81,360,736
Ensembl chr 3:81,331,614...81,360,706 		JBrowse link
G SLC10A2 solute carrier family 10 member 2 ISO ClinVar Annotator: match by term: Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ClinVar PMID:25414442 PMID:28492532 NCBI chr 3:81,608,394...81,630,170
Ensembl chr 3:81,607,276...81,629,719 		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 3:81,327,487...81,336,113
Ensembl chr 3:81,327,986...81,331,592 		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 3:81,151,769...81,234,755
Ensembl chr 3:81,151,801...81,236,235 		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 chr19:18,985,709...19,093,304
Ensembl chr19:18,986,598...19,052,671 		JBrowse link
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, 8, WITH RHIZOMELIC SHORT STATURE term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C1GALT1C1 C1GALT1 specific chaperone 1 ISO ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, 8, with rhizomelic short stature ClinVar
OMIM		 PMID:25741868 PMID:36599939 PMID:37216524
hemolytic-uremic syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALB albumin ISO CTD Direct Evidence: marker/mechanism CTD PMID:6734075 NCBI chr 7:21,872,036...21,890,095
Ensembl chr 7:21,876,132...21,891,407 		JBrowse link
G CD36 CD36 molecule (CD36 blood group) ISO RGD PMID:16197457 RGD:6893534 NCBI chr21:68,214,875...68,309,336
Ensembl chr21:68,216,201...68,268,669 		JBrowse link
G CD46 CD46 molecule susceptibility ISO DNA:frameshift mutation:cds:p.N233X3 (human)
DNA:deletion, missense mutation:cds:p.D237_S238del, p.S206P (human)
DNA:mutations:multiple (human) 		RGD PMID:14566051 PMID:14615110 PMID:16189652 RGD:11352767 RGD:11352770 RGD:11531138 NCBI chr25:21,650,825...21,693,898
Ensembl chr25:21,655,969...21,693,878 		JBrowse link
G CFH complement factor H ISO ClinVar Annotator: match by term: Hereditary hemolytic uremic syndrome ClinVar PMID:30595568 NCBI chr25:32,557,697...32,744,763 JBrowse link
G DGKE diacylglycerol kinase epsilon ISO ClinVar Annotator: match by term: Hemolytic-uremic syndrome ClinVar PMID:25854283 NCBI chr16:36,540,155...36,575,506
Ensembl chr16:36,546,670...36,574,820 		JBrowse link
G EPO erythropoietin ISO CTD Direct Evidence: therapeutic CTD PMID:12053072 NCBI chr28:12,487,222...12,491,986
Ensembl chr28:12,489,766...12,491,908 		JBrowse link
G FOS Fos proto-oncogene, AP-1 transcription factor subunit ISO RGD PMID:15632024 RGD:7242276 NCBI chr24:52,497,465...52,501,161
Ensembl chr24:52,497,521...52,501,514 		JBrowse link
G IL1A interleukin 1 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:15384034 NCBI chr14:15,789,710...15,801,938
Ensembl chr14:15,789,013...15,796,611 		JBrowse link
G IL1B interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:15384034 NCBI chr14:15,844,628...15,852,652
Ensembl chr14:15,844,672...15,850,729 		JBrowse link
G IL1RL1 interleukin 1 receptor like 1 severity ISO associated with Escherichia Coli Infections; RGD PMID:30467800 RGD:39458200 NCBI chr14:5,966,551...6,020,391
Ensembl chr14:6,005,061...6,020,265 		JBrowse link
G IL1RN interleukin 1 receptor antagonist ISO protein:increased concentration:serum (human) RGD PMID:9802632 PMID:12373296 RGD:6909134 RGD:6909171 NCBI chr14:16,136,667...16,152,451
Ensembl chr14:16,146,333...16,151,326 		JBrowse link
G IL6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15384034 NCBI chr21:35,577,513...35,582,385
Ensembl chr21:35,577,939...35,582,237 		JBrowse link
G LOC103242710 C-C motif chemokine 2 ISO protein:increased expression:plasma (rat) RGD PMID:10201001 RGD:11528527 NCBI chr16:27,763,354...27,765,437
Ensembl chr16:27,763,555...27,765,416 		JBrowse link
G LOC103242767 C-C motif chemokine 3 ISO RGD PMID:17220320 RGD:7241820 NCBI chr16:29,887,799...29,897,664
Ensembl chr16:29,887,883...29,897,544 		JBrowse link
G MBL2 mannose binding lectin 2 treatment ISO RGD PMID:27378476 RGD:11530050 NCBI chr 9:78,389,534...78,394,753
Ensembl chr 9:78,389,947...78,396,079 		JBrowse link
G NQO1 NAD(P)H quinone dehydrogenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12588957 NCBI chr 5:57,676,547...57,695,434
Ensembl chr 5:57,675,981...57,716,599 		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 chr17:25,538,645...25,571,230
Ensembl chr17:25,538,438...25,574,269 		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 chr 8:40,164,391...40,196,627
Ensembl chr 8:40,163,891...40,196,555 		JBrowse link
G THBD thrombomodulin ISO RGD PMID:22942429 RGD:11038690 NCBI chr 2:52,041,950...52,045,946
Ensembl chr 2:52,043,746...52,045,626 		JBrowse link
G TNF tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:15384034
G TSEN2 tRNA splicing endonuclease subunit 2 ISO ClinVar Annotator: match by term: Hemolytic-uremic syndrome ClinVar PMID:34964109 NCBI chr22:48,458,404...48,510,420
Ensembl chr22:48,463,693...48,510,123 		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 IIa ISO RGD PMID:8772238 RGD:11040889 NCBI chr20:2,480,710...2,512,429 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 RGD:11049164 NCBI chr25:22,590,389...22,595,877
Ensembl chr25:22,590,962...22,594,836 		JBrowse link
G LOC103223675 low affinity immunoglobulin gamma Fc region receptor III-A susceptibility ISO DNA:SNP:cds:p.V158F(human) RGD PMID:15191947 RGD:11040991 NCBI chr20:2,466,492...2,475,579 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 ClinVar Annotator: match by term: Oculootoradial syndrome | ClinVar Annotator: match by term: SALL4-Related Spectrum Disorders OMIM
ClinVar		 PMID:7395922 PMID:17256792 PMID:25741868 PMID:28492532 NCBI chr 2:12,179,721...12,199,629
Ensembl chr 2:12,182,357...12,199,321 		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 1:125,314,481...125,327,045
Ensembl chr 1:125,314,492...125,327,692 		JBrowse link
G ACRV1 acrosomal vesicle protein 1 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 1:116,812,667...116,821,625
Ensembl chr 1:116,812,726...116,821,073 		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 1:121,510,798...121,538,715
Ensembl chr 1:121,510,849...121,535,609 		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 1:121,465,341...121,491,301
Ensembl chr 1:121,465,883...121,489,200 		JBrowse link
G APLP2 amyloid beta precursor like protein 2 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 1:121,150,296...121,224,511
Ensembl chr 1:121,150,291...121,224,534 		JBrowse link
G ARHGAP32 Rho GTPase activating protein 32 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 1:120,108,671...120,333,200
Ensembl chr 1:120,112,042...120,329,370 		JBrowse link
G B3GAT1 beta-1,3-glucuronyltransferase 1 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 1:125,449,162...125,490,208
Ensembl chr 1:125,448,500...125,490,192 		JBrowse link
G BARX2 BARX homeobox 2 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 1:120,510,271...120,587,689
Ensembl chr 1:120,572,074...120,588,039 		JBrowse link
G CCDC15 coiled-coil domain containing 15 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 1:116,086,222...116,203,398 JBrowse link
G CDON cell adhesion associated, oncogene regulated ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 1:117,091,778...117,255,354
Ensembl chr 1:117,092,178...117,152,030 		JBrowse link
G CHEK1 checkpoint kinase 1 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 1:116,768,141...116,809,557
Ensembl chr 1:116,767,944...116,801,371 		JBrowse link
G DCPS decapping enzyme, scavenger ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 1:117,430,713...117,470,489
Ensembl chr 1:117,430,993...117,474,986 		JBrowse link
G DDX25 DEAD-box helicase 25 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 1:117,035,171...117,053,726
Ensembl chr 1:117,035,310...117,053,494 		JBrowse link
G EI24 EI24 autophagy associated transmembrane protein ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 1:116,711,922...116,727,208
Ensembl chr 1:116,714,578...116,726,216 		JBrowse link
G ESAM endothelial cell adhesion molecule ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 1:115,901,705...115,911,100
Ensembl chr 1:115,900,499...115,911,660 		JBrowse link
G ETS1 ETS proto-oncogene 1, transcription factor ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 1:119,588,476...119,736,623
Ensembl chr 1:119,588,448...119,652,299 		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 1:117,338,770...117,388,081
Ensembl chr 1:117,338,806...117,387,567 		JBrowse link
G FEZ1 fasciculation and elongation protein zeta 1 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 1:116,617,835...116,668,601
Ensembl chr 1:116,617,714...116,668,574 		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 1:119,817,987...119,945,378
Ensembl chr 1:119,827,222...119,946,662 		JBrowse link
G FOXRED1 FAD dependent oxidoreductase domain containing 1 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 1:117,394,426...117,404,692
Ensembl chr 1:117,394,587...117,404,258 		JBrowse link
G GLB1L2 galactosidase beta 1 like 2 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 1:125,411,615...125,454,995
Ensembl chr 1:125,411,752...125,454,965 		JBrowse link
G GLB1L3 galactosidase beta 1 like 3 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 1:125,359,514...125,400,427
Ensembl chr 1:125,360,454...125,400,409 		JBrowse link
G HEPACAM hepatic and glial cell adhesion molecule ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 1:116,063,150...116,080,620
Ensembl chr 1:116,063,166...116,080,125 		JBrowse link
G HEPN1 hepatocellular carcinoma, down-regulated 1 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362
G HYLS1 HYLS1 centriolar and ciliogenesis associated ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 1:117,018,639...117,031,861
Ensembl chr 1:117,030,588...117,031,484 		JBrowse link
G IGSF9B immunoglobulin superfamily member 9B ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 1:124,969,228...125,021,334
Ensembl chr 1:124,974,027...125,021,200 		JBrowse link
G JAM3 junctional adhesion molecule 3 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 1:125,136,963...125,211,424 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 1:119,971,282...120,040,752
Ensembl chr 1:119,969,370...119,986,411 		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 1:120,025,238...120,098,006
Ensembl chr 1:120,025,300...120,057,023 		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 1:117,553,388...118,122,895
Ensembl chr 1:117,551,940...117,687,637 		JBrowse link
G LINC02873 long intergenic non-protein coding RNA 2873 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 1:121,728,378...121,769,817 JBrowse link
G LOC103248732 olfactory receptor 8B4 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 1:115,566,649...115,572,103 JBrowse link
G LOC103248735 olfactory receptor 8A1 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 1:115,716,235...115,717,942
Ensembl chr 1:115,716,545...115,717,525 		JBrowse link
G LOC119626457 olfactory receptor 8B12 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362
G MSANTD2 Myb/SANT DNA binding domain containing 2 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 1:115,915,378...115,950,108
Ensembl chr 1:115,915,084...115,948,889 		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 1:125,212,744...125,285,488
Ensembl chr 1:125,210,486...125,284,920 		JBrowse link
G NFRKB nuclear factor related to kappaB binding protein ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 1:120,935,175...120,968,053
Ensembl chr 1:120,936,104...120,968,005 		JBrowse link
G NRGN neurogranin ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 1:115,888,289...115,895,809
Ensembl chr 1:115,894,095...115,894,313 		JBrowse link
G NTM neurotrimin ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 1:122,405,280...123,378,287
Ensembl chr 1:123,182,630...123,379,429 		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 1:123,446,497...124,617,242
Ensembl chr 1:123,451,729...123,698,280 		JBrowse link
G PANX3 pannexin 3 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 1:115,757,147...115,767,034
Ensembl chr 1:115,757,901...115,766,295 		JBrowse link
G PATE1 prostate and testis expressed 1 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 1:116,903,979...116,908,304 JBrowse link
G PATE2 prostate and testis expressed 2 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 1:116,932,139...116,964,404 JBrowse link
G PATE3 prostate and testis expressed 3 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 1:116,950,362...116,953,774 JBrowse link
G PATE4 prostate and testis expressed 4 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 1:116,996,163...117,003,586
Ensembl chr 1:116,996,723...117,001,796 		JBrowse link
G PKNOX2 PBX/knotted 1 homeobox 2 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 1:116,332,851...116,604,758
Ensembl chr 1:116,523,593...116,605,161 		JBrowse link
G PRDM10 PR/SET domain 10 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 1:120,982,207...121,086,938
Ensembl chr 1:120,982,993...121,044,928 		JBrowse link
G PUS3 pseudouridine synthase 3 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 1:117,024,697...117,035,102
Ensembl chr 1:117,025,009...117,027,510 		JBrowse link
G ROBO3 roundabout guidance receptor 3 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 1:116,004,129...116,024,691
Ensembl chr 1:116,008,742...116,024,474 		JBrowse link
G ROBO4 roundabout guidance receptor 4 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 1:116,027,516...116,041,771
Ensembl chr 1:116,026,834...116,041,422 		JBrowse link
G RPUSD4 RNA pseudouridine synthase D4 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 1:117,313,209...117,338,728
Ensembl chr 1:117,330,040...117,338,682 		JBrowse link
G SIAE sialic acid acetylesterase ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 1:115,782,624...115,822,707
Ensembl chr 1:115,782,964...115,820,284 		JBrowse link
G SLC37A2 solute carrier family 37 member 2 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 1:116,201,000...116,252,677
Ensembl chr 1:116,223,145...116,247,977 		JBrowse link
G SNX19 sorting nexin 19 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 1:121,927,660...121,968,101
Ensembl chr 1:121,930,165...121,968,075 		JBrowse link
G SPA17 sperm autoantigenic protein 17 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362
G SPATA19 spermatogenesis associated 19 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 1:124,916,744...124,921,918
Ensembl chr 1:124,918,093...124,921,722 		JBrowse link
G SRPRA SRP receptor subunit alpha ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 1:117,388,341...117,394,358
Ensembl chr 1:117,387,044...117,394,415 		JBrowse link
G ST14 ST14 transmembrane serine protease matriptase ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 1:121,238,666...121,290,528
Ensembl chr 1:121,238,643...121,290,007 		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 1:117,479,328...117,543,262
Ensembl chr 1:117,480,451...117,542,671 		JBrowse link
G STT3A STT3 oligosaccharyltransferase complex catalytic subunit A ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 1:116,734,393...116,762,820
Ensembl chr 1:116,734,393...116,762,231 		JBrowse link
G TBRG1 transforming growth factor beta regulator 1 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 1:115,768,337...115,778,084
Ensembl chr 1:115,768,355...115,777,870 		JBrowse link
G THYN1 thymocyte nuclear protein 1 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 1:125,308,232...125,313,553 JBrowse link
G TIRAP TIR domain containing adaptor protein ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 1:117,417,561...117,419,870 JBrowse link
G TMEM218 transmembrane protein 218 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 1:116,257,539...116,272,815
Ensembl chr 1:116,257,158...116,272,859 		JBrowse link
G TMEM45B transmembrane protein 45B ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 1:120,887,787...120,931,215
Ensembl chr 1:120,924,597...120,930,388 		JBrowse link
G TP53AIP1 tumor protein p53 regulated apoptosis inducing protein 1 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 1:120,077,522...120,080,158 JBrowse link
G VPS26B VPS26 retromer complex component B ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 1:125,284,997...125,307,748
Ensembl chr 1:125,285,056...125,305,549 		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 1:115,896,102...115,901,600
Ensembl chr 1:115,896,167...115,900,689 		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 1:121,317,527...121,382,608 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 7:70,089,394...70,157,423 JBrowse link
G GNA14 G protein subunit alpha 14 ISO ClinVar Annotator: match by term: Kaposiform hemangioendothelioma ClinVar PMID:25741868 PMID:27476652 NCBI chr12:88,386,597...88,606,787
Ensembl chr12:88,385,377...88,605,845 		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 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
ClinVar		 PMID:1449176 PMID:5011389 PMID:8280620 PMID:9390828 PMID:9536098 More... NCBI chr19:18,985,709...19,093,304
Ensembl chr19:18,986,598...19,052,671 		JBrowse link
G TUBB1 tubulin beta 1 class VI ISO ClinVar Annotator: match by term: Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss ClinVar PMID:25741868 NCBI chr 2:5,115,488...5,123,089
Ensembl chr 2:5,117,326...5,122,845 		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 4:49,280,289...49,382,101
Ensembl chr 4:49,317,648...49,380,051 		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 chr16:62,001,082...62,019,470
Ensembl chr16:62,001,352...62,019,289 		JBrowse link
G ITGB3 integrin subunit beta 3 ISO 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 ClinVar PMID:1430225 PMID:2257303 PMID:7694683 PMID:8093349 PMID:8457479 More... NCBI chr16:59,372,171...59,431,434
Ensembl chr16:59,374,889...59,410,857 		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 chr24:46,089,989...46,196,897
Ensembl chr24:46,085,751...46,196,886 		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 1:119,817,987...119,945,378
Ensembl chr 1:119,827,222...119,946,662 		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 OMIM
ClinVar		 PMID:1065298 PMID:5681484 PMID:20861919 PMID:23927492 PMID:24325358 More... NCBI chr12:5,145,194...5,158,659
Ensembl chr12:5,145,844...5,150,274 		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 4:49,280,289...49,382,101
Ensembl chr 4:49,317,648...49,380,051 		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 4:49,387,923...49,399,902
Ensembl chr 4:49,386,487...49,399,928 		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 chr16:59,372,171...59,431,434
Ensembl chr16:59,374,889...59,410,857 		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 ClinVar Annotator: match by term: THROMBOCYTOPENIA, CONGENITAL, WITH RADIOULNAR SYNOSTOSIS ClinVar PMID:25741868 NCBI chr21:31,180,232...31,187,709
Ensembl chr21:31,183,682...31,186,010 		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 chr21:31,180,232...31,187,709
Ensembl chr21:31,183,682...31,186,010 		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 chr21:85,222,724...85,258,562
Ensembl chr21:85,222,879...85,258,627 		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 chr15:19,726,423...20,320,832
Ensembl chr15:20,256,384...20,320,834 		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 chr20:110,568,004...110,608,318
Ensembl chr20:110,569,352...110,582,562 		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 ClinVar PMID:28492532 NCBI chr  X:47,046,209...47,056,961
Ensembl chr  X:47,046,240...47,056,319 		JBrowse link
G BMP15 bone morphogenetic protein 15 ISO ClinVar Annotator: match by term: Thrombocytopenia, X-linked ClinVar PMID:28492532 NCBI chr  X:47,713,434...47,722,818
Ensembl chr  X:47,713,957...47,719,777 		JBrowse link
G CACNA1F calcium voltage-gated channel subunit alpha1 F ISO ClinVar Annotator: match by term: Thrombocytopenia, X-linked ClinVar PMID:28492532 NCBI chr  X:46,304,831...46,330,562 JBrowse link
G CCDC120 coiled-coil domain containing 120 ISO ClinVar Annotator: match by term: Thrombocytopenia, X-linked ClinVar PMID:28492532 NCBI chr  X:46,161,238...46,178,128
Ensembl chr  X:46,170,651...46,177,244 		JBrowse link
G CCDC22 CCC complex scaffolding subunit CCDC22 ISO ClinVar Annotator: match by term: Thrombocytopenia, X-linked ClinVar PMID:28492532 NCBI chr  X:46,330,215...46,349,978
Ensembl chr  X:46,335,095...46,353,583 		JBrowse link
G CCNB3 cyclin B3 ISO ClinVar Annotator: match by term: Thrombocytopenia, X-linked ClinVar PMID:28492532 NCBI chr  X:47,059,747...47,142,911
Ensembl chr  X:47,085,605...47,142,788 		JBrowse link
G CLCN5 chloride voltage-gated channel 5 ISO ClinVar Annotator: match by term: Thrombocytopenia, X-linked ClinVar PMID:28492532 NCBI chr  X:46,772,176...46,934,886
Ensembl chr  X:46,772,305...46,927,861 		JBrowse link
G DGKK diacylglycerol kinase kappa ISO ClinVar Annotator: match by term: Thrombocytopenia, X-linked ClinVar PMID:28492532 NCBI chr  X:47,156,308...47,265,027
Ensembl chr  X:47,156,317...47,264,824 		JBrowse link
G EBP EBP cholestenol delta-isomerase ISO ClinVar Annotator: match by term: Thrombocytopenia, X-linked ClinVar PMID:28492532 NCBI chr  X:45,652,398...45,660,551
Ensembl chr  X:45,653,356...45,660,291 		JBrowse link
G ERAS ES cell expressed Ras ISO ClinVar Annotator: match by term: Thrombocytopenia, X-linked ClinVar PMID:28492532 NCBI chr  X:45,955,444...45,957,170
Ensembl chr  X:45,955,803...45,956,504 		JBrowse link
G FOXP3 forkhead box P3 ISO ClinVar Annotator: match by term: Thrombocytopenia, X-linked ClinVar PMID:28492532 NCBI chr  X:46,349,890...46,365,133 JBrowse link
G GATA1 GATA binding protein 1 ISO ClinVar Annotator: match by term: Thrombocytopenia, X-linked ClinVar PMID:28492532 NCBI chr  X:45,912,638...45,920,415
Ensembl chr  X:45,917,231...45,920,268 		JBrowse link
G GLOD5 glyoxalase domain containing 5 ISO ClinVar Annotator: match by term: Thrombocytopenia, X-linked ClinVar PMID:28492532 NCBI chr  X:45,888,220...45,900,316
Ensembl chr  X:45,888,509...45,900,095 		JBrowse link
G GPKOW G-patch domain and KOW motifs ISO ClinVar Annotator: match by term: Thrombocytopenia, X-linked ClinVar PMID:28492532 NCBI chr  X:46,212,415...46,227,315
Ensembl chr  X:46,209,373...46,227,250 		JBrowse link
G GRIPAP1 GRIP1 associated protein 1 ISO ClinVar Annotator: match by term: Thrombocytopenia, X-linked ClinVar PMID:28492532 NCBI chr  X:46,093,225...46,120,097
Ensembl chr  X:46,091,584...46,120,097 		JBrowse link
G HDAC6 histone deacetylase 6 ISO ClinVar Annotator: match by term: Thrombocytopenia, X-linked ClinVar PMID:28492532 NCBI chr  X:45,927,625...45,951,636
Ensembl chr  X:45,928,092...45,952,929 		JBrowse link
G KCND1 potassium voltage-gated channel subfamily D member 1 ISO ClinVar Annotator: match by term: Thrombocytopenia, X-linked ClinVar PMID:28492532 NCBI chr  X:46,080,116...46,092,125
Ensembl chr  X:46,081,711...46,089,762 		JBrowse link
G MAGIX MAGI family member, X-linked ISO ClinVar Annotator: match by term: Thrombocytopenia, X-linked ClinVar PMID:28492532 NCBI chr  X:46,260,076...46,264,187
Ensembl chr  X:46,260,137...46,263,687 		JBrowse link
G OTUD5 OTU deubiquitinase 5 ISO ClinVar Annotator: match by term: Thrombocytopenia, X-linked ClinVar PMID:28492532 NCBI chr  X:46,041,348...46,077,195 JBrowse link
G PAGE1 PAGE family member 1 ISO ClinVar Annotator: match by term: Thrombocytopenia, X-linked ClinVar PMID:28492532 NCBI chr  X:46,521,148...46,527,310
Ensembl chr  X:46,521,157...46,527,310 		JBrowse link
G PAGE4 PAGE family member 4 ISO ClinVar Annotator: match by term: Thrombocytopenia, X-linked ClinVar PMID:28492532 NCBI chr  X:46,595,642...46,680,133
Ensembl chr  X:46,676,607...46,678,837 		JBrowse link
G PCSK1N proprotein convertase subtilisin/kexin type 1 inhibitor ISO ClinVar Annotator: match by term: Thrombocytopenia, X-linked ClinVar PMID:28492532 NCBI chr  X:45,957,760...45,962,588
Ensembl chr  X:45,957,715...45,962,601 		JBrowse link
G PIM2 Pim-2 proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Thrombocytopenia, X-linked ClinVar PMID:28492532 NCBI chr  X:46,032,640...46,040,220 JBrowse link
G PLP2 proteolipid protein 2 ISO ClinVar Annotator: match by term: Thrombocytopenia, X-linked ClinVar PMID:28492532 NCBI chr  X:46,267,194...46,270,538 JBrowse link
G PORCN porcupine O-acyltransferase ISO ClinVar Annotator: match by term: Thrombocytopenia, X-linked ClinVar PMID:28492532 NCBI chr  X:45,639,836...45,652,301
Ensembl chr  X:45,640,125...45,651,974 		JBrowse link
G PPP1R3F protein phosphatase 1 regulatory subunit 3F ISO ClinVar Annotator: match by term: Thrombocytopenia, X-linked ClinVar PMID:28492532 NCBI chr  X:46,369,087...46,387,335
Ensembl chr  X:46,369,190...46,387,401 		JBrowse link
G PQBP1 polyglutamine binding protein 1 ISO ClinVar Annotator: match by term: Thrombocytopenia, X-linked ClinVar PMID:28492532 NCBI chr  X:46,014,664...46,020,204
Ensembl chr  X:46,015,250...46,023,988 		JBrowse link
G PRAF2 PRA1 domain family member 2 ISO ClinVar Annotator: match by term: Thrombocytopenia, X-linked ClinVar PMID:28492532 NCBI chr  X:46,179,842...46,182,769
Ensembl chr  X:46,179,835...46,183,552 		JBrowse link
G PRICKLE3 prickle planar cell polarity protein 3 ISO ClinVar Annotator: match by term: Thrombocytopenia, X-linked ClinVar PMID:28492532 NCBI chr  X:46,271,001...46,286,440
Ensembl chr  X:46,266,985...46,283,689 		JBrowse link
G RBM3 RNA binding motif protein 3 ISO ClinVar Annotator: match by term: Thrombocytopenia, X-linked ClinVar PMID:28492532 NCBI chr  X:45,702,974...45,707,064
Ensembl chr  X:45,702,275...45,707,075 		JBrowse link
G SHROOM4 shroom family member 4 ISO ClinVar Annotator: match by term: Thrombocytopenia, X-linked ClinVar PMID:28492532 NCBI chr  X:47,392,156...47,618,816
Ensembl chr  X:47,397,570...47,616,973 		JBrowse link
G SLC35A2 solute carrier family 35 member A2 ISO ClinVar Annotator: match by term: Thrombocytopenia, X-linked ClinVar PMID:28492532 NCBI chr  X:46,020,241...46,030,205
Ensembl chr  X:46,017,681...46,030,200 		JBrowse link
G SUV39H1 SUV39H1 histone lysine methyltransferase ISO ClinVar Annotator: match by term: Thrombocytopenia, X-linked ClinVar PMID:28492532 NCBI chr  X:45,820,114...45,834,727
Ensembl chr  X:45,822,453...45,834,917 		JBrowse link
G SYP synaptophysin ISO ClinVar Annotator: match by term: Thrombocytopenia, X-linked ClinVar PMID:28492532 NCBI chr  X:46,287,610...46,299,926
Ensembl chr  X:46,287,282...46,299,773 		JBrowse link
G TBC1D25 TBC1 domain family member 25 ISO ClinVar Annotator: match by term: Thrombocytopenia, X-linked ClinVar PMID:28492532 NCBI chr  X:45,671,217...45,691,307 JBrowse link
G TFE3 transcription factor binding to IGHM enhancer 3 ISO ClinVar Annotator: match by term: Thrombocytopenia, X-linked ClinVar PMID:28492532 NCBI chr  X:46,141,377...46,155,445
Ensembl chr  X:46,140,543...46,155,372 		JBrowse link
G TIMM17B translocase of inner mitochondrial membrane 17B ISO ClinVar Annotator: match by term: Thrombocytopenia, X-linked ClinVar PMID:28492532 NCBI chr  X:46,010,164...46,014,616
Ensembl chr  X:46,010,446...46,014,510 		JBrowse link
G USP27X ubiquitin specific peptidase 27 X-linked ISO ClinVar Annotator: match by term: Thrombocytopenia, X-linked ClinVar PMID:28492532 NCBI chr  X:46,718,329...46,728,205 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 | ClinVar Annotator: match by term: Thrombocytopenia, X-linked OMIM
ClinVar		 PMID:3284030 PMID:7579329 PMID:7753869 PMID:7795648 PMID:8528198 More... NCBI chr  X:45,809,418...45,817,165
Ensembl chr  X:45,809,189...45,817,667 		JBrowse link
G WDR13 WD repeat domain 13 ISO ClinVar Annotator: match by term: Thrombocytopenia, X-linked ClinVar PMID:28492532 NCBI chr  X:45,721,318...45,729,152
Ensembl chr  X:45,721,406...45,733,103 		JBrowse link
G WDR45 WD repeat domain 45 ISO ClinVar Annotator: match by term: Thrombocytopenia, X-linked ClinVar PMID:28492532 NCBI chr  X:46,183,278...46,188,564
Ensembl chr  X:46,183,443...46,188,536 		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 1:17,137,896...17,328,836
Ensembl chr 1:17,135,907...17,328,590 		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 chr11:64,240,501...64,290,515
Ensembl chr11:64,240,651...64,286,727 		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:11528398 PMID:12177386 PMID:12473753 PMID:12473769 PMID:12473780 More... NCBI chr12:44,300,321...44,340,917
Ensembl chr12:44,282,809...44,344,311 		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 chr20:108,883,796...108,889,917
Ensembl chr20:108,886,161...108,892,562 		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 chr 9:26,795,072...26,844,013
Ensembl chr 9:26,794,822...26,842,134 		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 OMIM
ClinVar		 PMID:10521306 PMID:17666371 PMID:20626622 PMID:21211618 PMID:21467542 More... NCBI chr 9:26,601,072...26,693,238
Ensembl chr 9:26,599,966...26,693,217 		JBrowse link
G MASTL microtubule associated serine/threonine kinase like ISO ClinVar Annotator: match by term: Thrombocytopenia 2 ClinVar PMID:10891439 PMID:12890928 PMID:19460416 PMID:22102272 PMID:25741868 More... NCBI chr 9:26,752,354...26,786,802
Ensembl chr 9:26,753,331...26,787,019 		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 OMIM
ClinVar		 PMID:25741868 PMID:25876182 PMID:28748566 NCBI chr 4:37,912,771...38,078,727
Ensembl chr 4:37,914,956...38,012,623 		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 OMIM
ClinVar		 PMID:18345000 PMID:22102269 PMID:24326104 PMID:25741868 PMID:28492532 More... NCBI chr21:33,251,825...33,253,298 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 chr15:84,529,660...84,619,707
Ensembl chr15:84,593,857...84,619,660 		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 chr11:11,567,522...11,812,292
Ensembl chr11:11,567,632...11,811,716 		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 2:26,344,480...26,367,448
Ensembl chr 2:26,343,450...26,367,776 		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 chr10:126,933,711...126,943,980
Ensembl chr10:126,933,835...126,944,354 		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 9:115,665,333...115,684,162
Ensembl chr 9:115,665,332...115,684,169 		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 chr28:16,195,676...16,197,161
Ensembl chr12:52,426,752...52,427,879 		JBrowse link
Thrombocytopenia 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G THPO thrombopoietin ISO ClinVar Annotator: match by term: Thrombocytopenia 9 OMIM
ClinVar		 PMID:25741868 PMID:28466964 PMID:28492532 PMID:28559357 PMID:31064749 More... NCBI chr15:5,040,684...5,048,387 JBrowse link
thrombocytopenia due to platelet alloimmunization term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC103223675 low affinity immunoglobulin gamma Fc region receptor III-A treatment ISO DNA:SNP:cds: RGD PMID:22775462 RGD:11040770 NCBI chr20:2,466,492...2,475,579 JBrowse link
G SOCS1 suppressor of cytokine signaling 1 ISO ClinVar Annotator: match by term: IMMUNE THROMBOCYTOPENIA ClinVar PMID:33087723 NCBI chr 5:10,731,866...10,733,745
Ensembl chr 5:10,732,350...10,732,991 		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 chr17:40,297,946...40,300,442
Ensembl chr17:40,298,473...40,300,174 		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
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 chr20:12,786,058...12,789,260
Ensembl chr20:12,786,933...12,788,423 		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 chr20:12,858,983...12,877,983
Ensembl chr20:12,859,767...12,877,977 		JBrowse link
G BCL9 BCL9 transcription coactivator ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar
G CD160 CD160 molecule ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr20:13,009,168...13,029,766
Ensembl chr20:13,012,460...13,020,466 		JBrowse link
G CHD1L chromodomain helicase DNA binding protein 1 like ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar
G FMO5 flavin containing dimethylaniline monoxygenase 5 ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar
G GJA5 gap junction protein alpha 5 ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar
G GJA8 gap junction protein alpha 8 ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar
G GPR89A G protein-coupled receptor 89A ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr20:13,076,475...13,134,144 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 chr20:12,730,106...12,735,230
Ensembl chr20:12,730,912...12,735,255 		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 chr20:12,835,551...12,854,342
Ensembl chr20:12,827,633...12,835,517
Ensembl chr20:12,827,633...12,835,517 		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 chr20:12,790,629...12,812,248
Ensembl chr20:12,790,756...12,811,931 		JBrowse link
G LOC103247232 NBPF member 11 ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar
G LOC140709472 uncharacterized LOC140709472 ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar
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 chr20:12,895,185...12,898,587
Ensembl chr20:12,895,662...12,898,592 		JBrowse link
G PDZK1 PDZ domain containing 1 ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr20:13,026,422...13,076,094
Ensembl chr20:13,040,475...13,079,241 		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...
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 chr20:12,884,475...12,902,014
Ensembl chr20:12,885,205...12,902,243 		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 chr20:12,901,879...12,919,748
Ensembl chr20:12,901,898...12,919,783 		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 chr20:12,773,971...12,784,023 JBrowse link
G PRKAB2 protein kinase AMP-activated non-catalytic subunit beta 2 ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar
G RBM8A RNA binding motif protein 8A ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome OMIM
ClinVar		 PMID:9536098 PMID:16501574 PMID:17236129 PMID:17576681 PMID:20301781 More... NCBI chr20:12,819,891...12,821,656
Ensembl chr20:12,819,956...12,821,629 		JBrowse link
G RNF115 ring finger protein 115 ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr20:12,919,988...13,001,736
Ensembl chr20:12,920,232...13,001,135 		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 chr20:12,756,145...12,759,853
Ensembl chr20:12,756,053...12,761,177 		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 chr22:52,000,620...52,013,570
Ensembl chr22:52,000,758...52,001,291 		JBrowse link
G ITGA2B integrin subunit alpha 2b ISO RGD PMID:11493456 RGD:2316362 NCBI chr16:62,001,082...62,019,470
Ensembl chr16:62,001,352...62,019,289 		JBrowse link
G ITGB3 integrin subunit beta 3 ISO associated with HIV Infections RGD PMID:8565280 PMID:11493456 RGD:10755471 RGD:2316362 NCBI chr16:59,372,171...59,431,434
Ensembl chr16:59,374,889...59,410,857 		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 chr12:4,677,237...4,718,825
Ensembl chr12:4,677,229...4,714,386 		JBrowse link
G ATRIP ATR interacting protein ISO ClinVar Annotator: match by term: Thrombotic microangiopathy ClinVar PMID:29941221 NCBI chr22:9,849,439...9,869,654
Ensembl chr22:9,849,570...9,869,553 		JBrowse link
G C3 complement C3 treatment ISO RGD PMID:11532096 RGD:5129554 NCBI chr 6:6,250,422...6,289,264 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 chr25:21,650,825...21,693,898
Ensembl chr25:21,655,969...21,693,878 		JBrowse link
G CFH complement factor H ISO ClinVar Annotator: match by term: Thrombotic microangiopathy ClinVar PMID:25741868 PMID:26283675 PMID:28492532 PMID:34912830 NCBI chr25:32,557,697...32,744,763 JBrowse link
G CFI complement factor I ISO ClinVar Annotator: match by term: Thrombotic microangiopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:57,641,363...57,713,209
Ensembl chr 7:57,640,141...57,700,805 		JBrowse link
G CPB2 carboxypeptidase B2 ISO DNA:polymorphism: ;1542C>G(human) RGD PMID:17327284 RGD:7243121 NCBI chr 3:24,108,854...24,161,669
Ensembl chr 3:24,109,416...24,161,408 		JBrowse link
G F3 coagulation factor III, tissue factor ISO RGD PMID:19535796 RGD:11341690 NCBI chr20:38,726,690...38,738,457
Ensembl chr20:38,726,798...38,739,408 		JBrowse link
G FGG fibrinogen gamma chain ISO RGD PMID:17038160 RGD:11352673 NCBI chr 7:101,148,457...101,157,245
Ensembl chr 7:101,148,058...101,157,111 		JBrowse link
G GP6 glycoprotein VI platelet ISO protein:increased expression:plasma (human) RGD PMID:24325877 RGD:401794444 NCBI chr 6:47,614,221...47,630,020
Ensembl chr 6:47,614,384...47,624,160 		JBrowse link
G ITGB3 integrin subunit beta 3 ISO associated with Chronic Allograft Dysfunction;protein:increased expression:arteriole RGD PMID:18234279 RGD:10755463 NCBI chr16:59,372,171...59,431,434
Ensembl chr16:59,374,889...59,410,857 		JBrowse link
G MTHFR methylenetetrahydrofolate reductase susceptibility ISO DNA:transition:cds:g.677C>T (human) RGD PMID:19448163 RGD:6893633 NCBI chr20:119,987,667...120,003,611
Ensembl chr20:119,990,133...120,002,950 		JBrowse link
G NOS2 nitric oxide synthase 2 ISO protein:Increased expression:kidney:neutrophil, endothelial cell, kidney: RGD PMID:10908153 RGD:11533936 NCBI chr16:21,533,011...21,576,645
Ensembl chr16:21,533,484...21,574,257 		JBrowse link
G NOS3 nitric oxide synthase 3 ISO protein:decreased expression:kidney: RGD PMID:10908153 RGD:11533936 NCBI chr21:119,174,829...119,196,840 JBrowse link
G TREX1 three prime repair exonuclease 1 ISO ClinVar Annotator: match by term: Thrombotic microangiopathy ClinVar PMID:29941221 NCBI chr22:9,869,502...9,871,659 JBrowse link
G VEGFA vascular endothelial growth factor A ISO CTD Direct Evidence: marker/mechanism CTD PMID:22808199 NCBI chr17:28,377,959...28,394,508 JBrowse link
G VWF von Willebrand factor disease_progression ISO protein:increased expression:plasma RGD PMID:20439183 PMID:21153061 RGD:7205650 RGD:7207026 NCBI chr11:5,994,499...6,176,949
Ensembl chr11:5,994,039...6,162,260 		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 OMIM
ClinVar		 PMID:1787257 PMID:6433703 PMID:7094941 PMID:9536098 PMID:11563771 More... NCBI chr12:4,677,237...4,718,825
Ensembl chr12:4,677,229...4,714,386 		JBrowse link
G CD36 CD36 molecule (CD36 blood group) ISO RGD PMID:7529543 RGD:11041104 NCBI chr21:68,214,875...68,309,336
Ensembl chr21:68,216,201...68,268,669 		JBrowse link
G F3 coagulation factor III, tissue factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:7740478 NCBI chr20:38,726,690...38,738,457
Ensembl chr20:38,726,798...38,739,408 		JBrowse link
G PROC protein C, inactivator of coagulation factors Va and VIIIa ISO RGD PMID:10936861 RGD:11100014 NCBI chr10:2,789,227...2,799,783
Ensembl chr10:2,789,277...2,799,531 		JBrowse link
G TFPI tissue factor pathway inhibitor treatment ISO CTD Direct Evidence: marker/mechanism RGD
CTD		 PMID:7740478 RGD:11340214 NCBI chr10:73,004,762...73,105,772
Ensembl chr10:73,002,522...73,105,858 		JBrowse link
G THBD thrombomodulin ISO CTD Direct Evidence: marker/mechanism CTD PMID:7740478 NCBI chr 2:52,041,950...52,045,946
Ensembl chr 2:52,043,746...52,045,626 		JBrowse link
Thrombotic Thrombocytopenic Purpura, Acquired term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif 13 treatment ISO human protein in a rat model
ClinVar Annotator: match by term: Moschowitz syndrome 		RGD
ClinVar		 PMID:16796708 PMID:16807643 PMID:17003922 PMID:18031293 PMID:22529288 More... RGD:10449097 NCBI chr12:4,677,237...4,718,825
Ensembl chr12:4,677,229...4,714,386 		JBrowse link
G VWF von Willebrand factor treatment ISO RGD PMID:26863353 RGD:11079195 NCBI chr11:5,994,499...6,176,949
Ensembl chr11:5,994,039...6,162,260 		JBrowse link
X-linked thrombocytopenia with beta-thalassemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GATA1 GATA binding protein 1 ISO ClinVar Annotator: match by term: Beta-thalassemia-X-linked thrombocytopenia syndrome | ClinVar Annotator: match by term: Thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis OMIM
ClinVar		 PMID:871527 PMID:12200364 PMID:14691578 PMID:16783379 PMID:17148589 More... NCBI chr  X:45,912,638...45,920,415
Ensembl chr  X:45,917,231...45,920,268 		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:45,809,418...45,817,165
Ensembl chr  X:45,809,189...45,817,667 		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 OMIM
ClinVar		 PMID:871527 PMID:3164080 PMID:9536098 PMID:10700180 PMID:11418466 More... NCBI chr  X:45,912,638...45,920,415
Ensembl chr  X:45,917,231...45,920,268 		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:14,247,231...14,279,466
Ensembl chr  X:14,247,287...14,279,448 		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 chr15:52,367,197...52,381,076
Ensembl chr15:52,367,357...52,380,227 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15628
    disease of anatomical entity 15289
      hematopoietic system disease 3695
        blood coagulation disease 1416
          hemorrhagic disease 1369
            blood platelet disease 426
              thrombocytopenia 315
                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 + 69
                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 41
                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 + 84
                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 + 9
                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 25
                transient neonatal thrombocytopenia 0
Path 2
Term Annotations click to browse term
  disease 15628
    disease of anatomical entity 15289
      Hemic and Lymphatic Diseases 4156
        hematopoietic system disease 3695
          blood coagulation disease 1416
            hemorrhagic disease 1369
              blood platelet disease 426
                thrombocytopenia 315
                  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 + 69
                  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 41
                  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 + 84
                  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 + 9
                  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 25
                  transient neonatal thrombocytopenia 0
paths to the root