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HUMAN PHENOTYPE - ANNOTATIONS

The Human Phenotype Ontology (HPO) is downloaded weekly from http://compbio.charite.de/hudson/job/hpo/lastStableBuild/artifact/ontology/release/hp.obo. The file downloaded is considered the "last stable build" available for the ontology. For more about the HPO, view their website at http://www.human-phenotype-ontology.org/.
Term:Abnormality of thrombocytes
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Accession:HP:0001872 term browser browse the term
Definition:An abnormality of platelets.
Comment:Platelets, also known as thrombocytes, are non-nucleated disk-shaped cells mainly involved in blood coagulation.
Synonyms:exact_synonym: Platelet abnormalities
 related_synonym: Blood platelet disease;   Thrombasthenia
 alt_id: HP:0004807;   HP:0005554
 xref: SNOMEDCT_US:127566005;   SNOMEDCT_US:32942005;   UMLS:C0040015;   UMLS:C0151854;   UMLS:C4020863


show annotations for term's descendants           Sort by:
Abnormality of thrombocytes term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCC6 ATP binding cassette subfamily C member 6 IAGP HPO ORPHA:758 NCBI chr16:16,149,565...16,223,494
Ensembl chr16:16,149,565...16,223,522 		JBrowse link
G ARVCF ARVCF delta catenin family member IAGP HPO ORPHA:567 NCBI chr22:19,965,134...20,016,823
Ensembl chr22:19,969,896...20,016,823 		JBrowse link
G CALR calreticulin IAGP HPO ORPHA:3318 NCBI chr19:12,938,609...12,944,489
Ensembl chr19:12,938,578...12,944,489 		JBrowse link
G COMT catechol-O-methyltransferase IAGP HPO ORPHA:567 NCBI chr22:19,941,772...19,969,975
Ensembl chr22:19,941,371...19,969,975 		JBrowse link
G ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 IAGP HPO ORPHA:758 NCBI chr 6:131,808,020...131,895,155
Ensembl chr 6:131,808,016...131,895,155 		JBrowse link
G FERMT3 FERM domain containing kindlin 3 IAGP HPO MIM:612840 NCBI chr11:64,205,920...64,223,891
Ensembl chr11:64,205,926...64,223,896 		JBrowse link
G GP1BB glycoprotein Ib platelet subunit beta IAGP HPO ORPHA:567 NCBI chr22:19,723,539...19,724,771
Ensembl chr22:19,723,539...19,724,771 		JBrowse link
G GP6 glycoprotein VI platelet IAGP Sticky platelet syndrome type II;DNA:SNPs:introns: (rs1671153, rs1654419) RGD PMID:22821001 RGD:401794137 NCBI chr19:55,013,705...55,038,264
Ensembl chr19:55,013,705...55,038,264 		JBrowse link
G HIRA histone cell cycle regulator IAGP HPO ORPHA:567 NCBI chr22:19,330,698...19,431,733
Ensembl chr22:19,330,698...19,447,450 		JBrowse link
G HLA-B major histocompatibility complex, class I, B IAGP HPO ORPHA:397 NCBI chr 6:31,353,875...31,357,179
Ensembl chr 6:31,353,872...31,367,067 		JBrowse link
G HLA-DRB1 major histocompatibility complex, class II, DR beta 1 IAGP HPO ORPHA:397 NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848 		JBrowse link
G ITGA2B integrin subunit alpha 2b IAGP ClinVar Annotator: match by term: Thrombasthenia ClinVar PMID:15099289 PMID:20020534 PMID:25539746 PMID:25741868 PMID:28492532 NCBI chr17:44,372,181...44,389,649
Ensembl chr17:44,372,180...44,389,649 		JBrowse link
G ITGB3 integrin subunit beta 3 IAGP ClinVar Annotator: match by term: Thrombasthenia ClinVar PMID:19570064 PMID:19821948 PMID:20804530 PMID:21287507 PMID:22490273 More... NCBI chr17:47,253,827...47,313,743
Ensembl chr17:47,253,827...47,313,743 		JBrowse link
G JAK2 Janus kinase 2 IAGP HPO ORPHA:3318 NCBI chr 9:4,984,390...5,129,948
Ensembl chr 9:4,984,390...5,129,948 		JBrowse link
G JMJD1C jumonji domain containing 1C IAGP HPO ORPHA:567 NCBI chr10:63,167,225...63,521,890
Ensembl chr10:63,167,221...63,521,850 		JBrowse link
G MPL MPL proto-oncogene, thrombopoietin receptor IAGP HPO ORPHA:3318 NCBI chr 1:43,337,818...43,354,466
Ensembl chr 1:43,337,818...43,354,466 		JBrowse link
G MSH6 mutS homolog 6 IAGP ClinVar Annotator: match by term: Thrombasthenia ClinVar PMID:25326637 PMID:25741868 PMID:28492532 NCBI chr 2:47,783,145...47,810,101
Ensembl chr 2:47,695,530...47,810,063 		JBrowse link
G NBEAL2 neurobeachin like 2 IAGP HPO ORPHA:721 NCBI chr 3:46,979,666...47,009,701
Ensembl chr 3:46,979,666...47,009,704 		JBrowse link
G NLRP3 NLR family pyrin domain containing 3 IAGP HPO ORPHA:1451 NCBI chr 1:247,416,077...247,448,817
Ensembl chr 1:247,332,331...247,449,108 		JBrowse link
G ORAI1 ORAI calcium release-activated calcium modulator 1 IAGP HPO ORPHA:3204 NCBI chr12:121,626,530...121,643,109
Ensembl chr12:121,626,509...121,643,218 		JBrowse link
G P4HA2 prolyl 4-hydroxylase subunit alpha 2 IAGP HPO ORPHA:397 NCBI chr 5:132,190,147...132,227,853
Ensembl chr 5:132,190,147...132,295,315 		JBrowse link
G PTPN22 protein tyrosine phosphatase non-receptor type 22 IAGP HPO ORPHA:397 NCBI chr 1:113,813,811...113,871,759
Ensembl chr 1:113,813,811...113,871,753 		JBrowse link
G RREB1 ras responsive element binding protein 1 IAGP HPO ORPHA:567 NCBI chr 6:7,107,743...7,251,980
Ensembl chr 6:7,107,597...7,251,980 		JBrowse link
G SCN10A sodium voltage-gated channel alpha subunit 10 IAGP HPO ORPHA:90026 NCBI chr 3:38,696,807...38,816,217
Ensembl chr 3:38,696,802...38,816,286 		JBrowse link
G SCN11A sodium voltage-gated channel alpha subunit 11 IAGP HPO ORPHA:90026 NCBI chr 3:38,845,764...39,051,944
Ensembl chr 3:38,845,764...39,052,157 		JBrowse link
G SCN9A sodium voltage-gated channel alpha subunit 9 IAGP HPO ORPHA:90026 NCBI chr 2:166,195,185...166,375,987
Ensembl chr 2:166,195,185...166,376,001 		JBrowse link
G SEC24C SEC24 homolog C, COPII coat complex component IAGP HPO ORPHA:567 NCBI chr10:73,744,372...73,772,161
Ensembl chr10:73,744,372...73,772,161 		JBrowse link
G SH2B3 SH2B adaptor protein 3 IAGP HPO ORPHA:3318 NCBI chr12:111,404,730...111,451,623
Ensembl chr12:111,405,923...111,451,623 		JBrowse link
G STIM1 stromal interaction molecule 1 IAGP HPO ORPHA:3204 NCBI chr11:3,854,604...4,093,210
Ensembl chr11:3,854,527...4,093,210 		JBrowse link
G TBX1 T-box transcription factor 1 IAGP HPO ORPHA:567 NCBI chr22:19,756,703...19,783,593
Ensembl chr22:19,756,703...19,783,593 		JBrowse link
G TET2 tet methylcytosine dioxygenase 2 IAGP HPO ORPHA:3318 NCBI chr 4:105,145,875...105,279,803
Ensembl chr 4:105,145,875...105,279,816 		JBrowse link
G TP53 tumor protein p53 IAGP HPO ORPHA:3318 NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,546 		JBrowse link
G UFD1 ubiquitin recognition factor in ER associated degradation 1 IAGP HPO ORPHA:567 NCBI chr22:19,449,911...19,479,193
Ensembl chr22:19,449,911...19,479,202 		JBrowse link
Abnormal alpha granule content term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RUNX1 RUNX family transcription factor 1 IAGP HPO MIM:601399 NCBI chr21:34,787,801...35,049,302
Ensembl chr21:34,787,801...36,004,667 		JBrowse link
Abnormal dense granule content term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RUNX1 RUNX family transcription factor 1 IAGP HPO MIM:601399 NCBI chr21:34,787,801...35,049,302
Ensembl chr21:34,787,801...36,004,667 		JBrowse link
G SLC18A2 solute carrier family 18 member A2 IAGP ClinVar Annotator: match by term: Abnormal dense granule content ClinVar PMID:32581362 NCBI chr10:117,241,114...117,279,430
Ensembl chr10:117,241,093...117,279,430 		JBrowse link
Abnormal dense granules term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LYST lysosomal trafficking regulator IAGP HPO MIM:214500 NCBI chr 1:235,661,031...235,883,713
Ensembl chr 1:235,661,041...235,883,724 		JBrowse link
G SLC18A2 solute carrier family 18 member A2 IAGP ClinVar Annotator: match by term: Abnormal dense granules ClinVar PMID:32581362 NCBI chr10:117,241,114...117,279,430
Ensembl chr10:117,241,093...117,279,430 		JBrowse link
Abnormal number of alpha granules term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GFI1B growth factor independent 1B transcriptional repressor IAGP DNA:nonsense mutation:c.859C>T, p.Gln287X(human) RGD PMID:24325358 RGD:11040508 NCBI chr 9:132,945,531...132,993,434
Ensembl chr 9:132,944,000...132,991,687 		JBrowse link
G NBEAL2 neurobeachin like 2 IAGP HPO MIM:139090 NCBI chr 3:46,979,666...47,009,701
Ensembl chr 3:46,979,666...47,009,704 		JBrowse link
Abnormal number of dense granules term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HPS3 HPS3 biogenesis of lysosomal organelles complex 2 subunit 1 IAGP HPO MIM:614072 NCBI chr 3:149,129,638...149,173,732
Ensembl chr 3:149,129,638...149,173,732 		JBrowse link
Abnormal platelet aggregation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BLOC1S6 biogenesis of lysosomal organelles complex 1 subunit 6 IAGP HPO MIM:614171 NCBI chr15:45,587,123...45,609,716
Ensembl chr15:45,587,214...45,615,945 		JBrowse link
G GP6 glycoprotein VI platelet IAGP DNA:missense mutations:CDS:multiple
Sticky platelet syndrome associated with Spontaneous Abortion;DNA:SNP:exon:g.55526345G>T (rs1671152)
Sticky platelet syndrome associated with Spontaneous Abortion;DNA:SNPs:introns, exon:g.55527189T>G, g.55535881G>A, g.55536595A>G (rs1671153, rs1654419, rs1613662)
Sticky platelet syndrome associated with Spontaneous Abortion;DNA:missense mutations:CDS:p.H322N, p.A249T, p.E237K (rs1671152, rs2304167, rs1654416)
Sticky platelet syndrome type I associated with cerebral infarction;DNA:SNPs, haplotype:multiple		 RGD PMID:12560230 PMID:26308704 PMID:22901851 PMID:28041267 PMID:23168074 RGD:401793748, RGD:11537847, RGD:401794455, RGD:401794417, RGD:401794413 NCBI chr19:55,013,705...55,038,264
Ensembl chr19:55,013,705...55,038,264 		JBrowse link
G GUCY1A1 guanylate cyclase 1 soluble subunit alpha 1 IAGP HPO ORPHA:401945 NCBI chr 4:155,666,848...155,737,059
Ensembl chr 4:155,666,726...155,737,059 		JBrowse link
G ITGA2B integrin subunit alpha 2b IAGP ClinVar Annotator: match by term: Abnormal platelet aggregation ClinVar PMID:25741868 PMID:31064749 NCBI chr17:44,372,181...44,389,649
Ensembl chr17:44,372,180...44,389,649 		JBrowse link
G ITGB3 integrin subunit beta 3 IAGP ClinVar Annotator: match by term: Abnormal platelet aggregation ClinVar PMID:25741868 PMID:31064749 NCBI chr17:47,253,827...47,313,743
Ensembl chr17:47,253,827...47,313,743 		JBrowse link
G RASGRP2 RAS guanyl releasing protein 2 IAGP ClinVar Annotator: match by term: Abnormal platelet aggregation ClinVar PMID:25741868 PMID:27235135 PMID:27663674 PMID:28492532 PMID:28637664 More... NCBI chr11:64,726,911...64,745,456
Ensembl chr11:64,726,911...64,745,456 		JBrowse link
G TBXA2R thromboxane A2 receptor IAGP ClinVar Annotator: match by term: Abnormal platelet aggregation ClinVar PMID:25741868 PMID:31064749 NCBI chr19:3,594,507...3,606,875
Ensembl chr19:3,594,507...3,606,875 		JBrowse link
G THPO thrombopoietin IAGP HPO MIM:620478 NCBI chr 3:184,371,935...184,379,688
Ensembl chr 3:184,371,935...184,381,968 		JBrowse link
Abnormal platelet count 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 IAGP DNA:mutations:multiple RGD PMID:11586351 RGD:1598736 NCBI chr 9:133,414,337...133,459,386
Ensembl chr 9:133,414,358...133,459,402 		JBrowse link
G CALR calreticulin IAGP DNA:insertions, deletions, insertion/deletions:multiple
DNA:frameshift mutations:cds:p.L367fs*46, p.K385fs*47		 RGD PMID:26375990 PMID:24997152 RGD:11097407, RGD:11352753 NCBI chr19:12,938,609...12,944,489
Ensembl chr19:12,938,578...12,944,489 		JBrowse link
G CYCS cytochrome c, somatic IAGP DNA:transition mutation:exon:p.G41S(human) RGD PMID:18345000 RGD:11352700 NCBI chr 7:25,118,656...25,125,260
Ensembl chr 7:25,118,656...25,125,260 		JBrowse link
G DKC1 dyskerin pseudouridine synthase 1 IAGP DNA:missense mutations:exon:p.V105G, p.S121A (human) RGD PMID:26360549 RGD:11251733 NCBI chr  X:154,762,864...154,777,689
Ensembl chr  X:154,762,742...154,777,689 		JBrowse link
G EPB42 erythrocyte membrane protein band 4.2 IAGP HPO MIM:612690 NCBI chr15:43,197,227...43,225,737
Ensembl chr15:43,197,227...43,221,018 		JBrowse link
G GP6 glycoprotein VI platelet IAGP HPO MIM:614201 NCBI chr19:55,013,705...55,038,264
Ensembl chr19:55,013,705...55,038,264 		JBrowse link
G HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 treatment IAGP DNA:polymorphisms:cds:HLA-DQB1*0401
DNA:polymorphisms:cds:HLA-DQB1*0301		 RGD PMID:10435723 PMID:19922436 RGD:11041758, RGD:11041754 NCBI chr 6:32,659,467...32,666,657
Ensembl chr 6:32,659,467...32,668,383 		JBrowse link
G HLA-DRB1 major histocompatibility complex, class II, DR beta 1 treatment IAGP DNA:polymorphisms:cds:HLA-DRB1*0901, HLA-DRB1*0410 RGD PMID:10435723 RGD:11041758 NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848 		JBrowse link
G HP haptoglobin IAGP DNA:missense mutations, duplication:cds, exons, introns:p.A52D, p.E53K, 31-207dup RGD PMID:24567965 RGD:11041787 NCBI chr16:72,054,505...72,061,055
Ensembl chr16:72,054,505...72,061,055 		JBrowse link
G IDH1 isocitrate dehydrogenase (NADP(+)) 1 IAGP associated with Leukemia, Myeloid, Acute; DNA:mutation:cds:p.R132(human) RGD PMID:20368543 RGD:11522718 NCBI chr 2:208,236,227...208,255,071
Ensembl chr 2:208,236,229...208,266,074 		JBrowse link
G IDH2 isocitrate dehydrogenase (NADP(+)) 2 no_association IAGP associated with Leukemia, Myeloid, Acute; DNA:mutation:cds:p.R140,R172(human)
associated with Leukemia, Myeloid, Acute; DNA:mutation:exon:		 RGD PMID:20368543 PMID:23815907 RGD:11522718, RGD:11522728 NCBI chr15:90,083,045...90,102,468
Ensembl chr15:90,083,045...90,102,477 		JBrowse link
G IL1A interleukin 1 alpha IAGP DNA:SNP:promoter:-899C>T RGD PMID:21591983 RGD:11051966 NCBI chr 2:112,773,925...112,784,493
Ensembl chr 2:112,773,925...112,784,493 		JBrowse link
G IL4 interleukin 4 disease_progression IAGP DNA:repeat:intron RGD PMID:25051072 RGD:11041894 NCBI chr 5:132,673,989...132,682,678
Ensembl chr 5:132,673,986...132,682,678 		JBrowse link
G ITGA2B integrin subunit alpha 2b IAGP HPO MIM:273800 NCBI chr17:44,372,181...44,389,649
Ensembl chr17:44,372,180...44,389,649 		JBrowse link
G TBXA2R thromboxane A2 receptor IAGP HPO MIM:614009 NCBI chr19:3,594,507...3,606,875
Ensembl chr19:3,594,507...3,606,875 		JBrowse link
G XRCC1 X-ray repair cross complementing 1 IAGP associated with Chronic Hepatitis C;DNA:SNP:exon 14: c.1517G>C, p.506G>A (human) RGD PMID:32334466 RGD:150540333 NCBI chr19:43,543,311...43,575,527
Ensembl chr19:43,543,311...43,580,473 		JBrowse link
Abnormal platelet function term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTN1 actinin alpha 1 IAGP ClinVar Annotator: match by term: Abnormal platelet function ClinVar PMID:25741868 PMID:31064749 NCBI chr14:68,874,128...68,979,302
Ensembl chr14:68,874,123...68,979,440 		JBrowse link
G CBL Cbl proto-oncogene IAGP HPO ORPHA:648 NCBI chr11:119,206,339...119,308,149
Ensembl chr11:119,206,298...119,313,926 		JBrowse link
G GATA1 GATA binding protein 1 IAGP HPO ORPHA:231393 NCBI chr  X:48,786,590...48,794,311
Ensembl chr  X:48,786,540...48,794,311 		JBrowse link
G GNAS GNAS complex locus IAGP HPO ORPHA:79443 NCBI chr20:58,839,748...58,911,192
Ensembl chr20:58,839,718...58,911,192 		JBrowse link
G ITGA2B integrin subunit alpha 2b IAGP ClinVar Annotator: match by term: Abnormal platelet function ClinVar PMID:25741868 PMID:31064749 NCBI chr17:44,372,181...44,389,649
Ensembl chr17:44,372,180...44,389,649 		JBrowse link
G KRAS KRAS proto-oncogene, GTPase IAGP HPO ORPHA:648 NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936 		JBrowse link
G LYST lysosomal trafficking regulator IAGP HPO ORPHA:167 NCBI chr 1:235,661,031...235,883,713
Ensembl chr 1:235,661,041...235,883,724 		JBrowse link
G LZTR1 leucine zipper like post translational regulator 1 IAGP HPO ORPHA:648 NCBI chr22:20,982,297...20,999,032
Ensembl chr22:20,982,269...20,999,032 		JBrowse link
G MED12L mediator complex subunit 12L IAGP ClinVar Annotator: match by term: Abnormal platelet function ClinVar PMID:25741868 PMID:31064749 NCBI chr 3:151,085,664...151,436,653
Ensembl chr 3:151,085,286...151,437,072 		JBrowse link
G MRAS muscle RAS oncogene homolog IAGP HPO ORPHA:648 NCBI chr 3:138,347,648...138,405,535
Ensembl chr 3:138,347,648...138,405,534 		JBrowse link
G MYH9 myosin heavy chain 9 IAGP ClinVar Annotator: match by term: Abnormal platelet function ClinVar PMID:25741868 PMID:31064749 NCBI chr22:36,281,280...36,387,967
Ensembl chr22:36,281,280...36,388,010 		JBrowse link
G NRAS NRAS proto-oncogene, GTPase IAGP HPO ORPHA:648 NCBI chr 1:114,704,469...114,716,771
Ensembl chr 1:114,704,469...114,716,771 		JBrowse link
G P2RY12 purinergic receptor P2Y12 IAGP ClinVar Annotator: match by term: Abnormal platelet function ClinVar PMID:25741868 PMID:31064749 NCBI chr 3:151,336,843...151,384,753
Ensembl chr 3:151,336,843...151,384,753 		JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 IAGP HPO ORPHA:648 NCBI chr12:112,418,947...112,509,918
Ensembl chr12:112,418,351...112,509,918 		JBrowse link
G RAF1 Raf-1 proto-oncogene, serine/threonine kinase IAGP HPO ORPHA:648 NCBI chr 3:12,583,601...12,664,117
Ensembl chr 3:12,582,101...12,664,201 		JBrowse link
G RASA2 RAS p21 protein activator 2 IAGP HPO ORPHA:648 NCBI chr 3:141,487,027...141,615,344
Ensembl chr 3:141,487,027...141,615,344 		JBrowse link
G RIT1 Ras like without CAAX 1 IAGP HPO ORPHA:648 NCBI chr 1:155,897,808...155,911,349
Ensembl chr 1:155,897,808...155,911,404 		JBrowse link
G RRAS RAS related IAGP HPO ORPHA:648 NCBI chr19:49,635,292...49,640,143
Ensembl chr19:49,635,292...49,640,143 		JBrowse link
G RRAS2 RAS related 2 IAGP HPO ORPHA:648 NCBI chr11:14,277,920...14,364,506
Ensembl chr11:14,277,922...14,364,506 		JBrowse link
G RUNX1 RUNX family transcription factor 1 IAGP ClinVar Annotator: match by term: Abnormal platelet function ClinVar PMID:11276260 PMID:12377125 PMID:12393679 PMID:12807882 PMID:17234761 More... NCBI chr21:34,787,801...35,049,302
Ensembl chr21:34,787,801...36,004,667 		JBrowse link
G RUNX1-AS1 RUNX1 antisense RNA 1 IAGP ClinVar Annotator: match by term: Abnormal platelet function ClinVar PMID:11276260 PMID:12377125 PMID:12393679 PMID:12807882 PMID:17234761 More... NCBI chr21:34,836,313...34,885,052
Ensembl chr21:34,836,286...34,884,882 		JBrowse link
G SAMD9L sterile alpha motif domain containing 9 like IAGP HPO ORPHA:2585 NCBI chr 7:93,130,056...93,148,385
Ensembl chr 7:93,130,056...93,148,385 		JBrowse link
G SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 IAGP HPO ORPHA:648 NCBI chr 2:38,981,549...39,124,868
Ensembl chr 2:38,962,206...39,124,345 		JBrowse link
G SOS2 SOS Ras/Rho guanine nucleotide exchange factor 2 IAGP HPO ORPHA:648 NCBI chr14:50,117,130...50,231,882
Ensembl chr14:50,117,130...50,231,578 		JBrowse link
G SPRED2 sprouty related EVH1 domain containing 2 IAGP HPO ORPHA:648 NCBI chr 2:65,307,175...65,432,599
Ensembl chr 2:65,310,851...65,432,637 		JBrowse link
G WAS WASP actin nucleation promoting factor IAGP HPO ORPHA:906 NCBI chr  X:48,676,636...48,691,427
Ensembl chr  X:48,676,596...48,691,431 		JBrowse link
G WIPF1 WAS/WASL interacting protein family member 1 IAGP HPO ORPHA:906 NCBI chr 2:174,559,574...174,682,913
Ensembl chr 2:174,559,572...174,682,916 		JBrowse link
Abnormal platelet granules term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HPS3 HPS3 biogenesis of lysosomal organelles complex 2 subunit 1 IAGP DNA:deletion: RGD PMID:11455388 RGD:1599538 NCBI chr 3:149,129,638...149,173,732
Ensembl chr 3:149,129,638...149,173,732 		JBrowse link
G SLC35A1 solute carrier family 35 member A1 IAGP HPO ORPHA:238459 NCBI chr 6:87,472,974...87,512,336
Ensembl chr 6:87,470,623...87,512,336 		JBrowse link
Abnormal platelet membrane protein expression term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GP6 glycoprotein VI platelet IAGP DNA:missense mutations:CDS:multiple RGD PMID:12560230 RGD:401793748 NCBI chr19:55,013,705...55,038,264
Ensembl chr19:55,013,705...55,038,264 		JBrowse link
Abnormal platelet morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CALR calreticulin IAGP HPO ORPHA:3318 NCBI chr19:12,938,609...12,944,489
Ensembl chr19:12,938,578...12,944,489 		JBrowse link
G JAK2 Janus kinase 2 IAGP HPO ORPHA:3318 NCBI chr 9:4,984,390...5,129,948
Ensembl chr 9:4,984,390...5,129,948 		JBrowse link
G MPL MPL proto-oncogene, thrombopoietin receptor IAGP HPO ORPHA:3318 NCBI chr 1:43,337,818...43,354,466
Ensembl chr 1:43,337,818...43,354,466 		JBrowse link
G MYH9 myosin heavy chain 9 IAGP ClinVar Annotator: match by term: Abnormal shape of platelets ClinVar PMID:25741868 PMID:31064749 NCBI chr22:36,281,280...36,387,967
Ensembl chr22:36,281,280...36,388,010 		JBrowse link
G SC5D sterol-C5-desaturase IAGP HPO ORPHA:46059 NCBI chr11:121,292,771...121,313,410
Ensembl chr11:121,292,681...121,313,410 		JBrowse link
G SH2B3 SH2B adaptor protein 3 IAGP HPO ORPHA:3318 NCBI chr12:111,404,730...111,451,623
Ensembl chr12:111,405,923...111,451,623 		JBrowse link
G TET2 tet methylcytosine dioxygenase 2 IAGP HPO ORPHA:3318 NCBI chr 4:105,145,875...105,279,803
Ensembl chr 4:105,145,875...105,279,816 		JBrowse link
G TP53 tumor protein p53 IAGP HPO ORPHA:3318 NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,546 		JBrowse link
G WAS WASP actin nucleation promoting factor IAGP HPO ORPHA:906 NCBI chr  X:48,676,636...48,691,427
Ensembl chr  X:48,676,596...48,691,431 		JBrowse link
G WIPF1 WAS/WASL interacting protein family member 1 IAGP HPO ORPHA:906 NCBI chr 2:174,559,574...174,682,913
Ensembl chr 2:174,559,572...174,682,916 		JBrowse link
Abnormal platelet shape term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANKRD26 ankyrin repeat domain containing 26 IAGP HPO MIM:188000 NCBI chr10:26,947,582...27,100,494
Ensembl chr10:26,973,793...27,100,494 		JBrowse link
G MYH9 myosin heavy chain 9 IAGP ClinVar Annotator: match by term: Abnormal platelet shape ClinVar PMID:25741868 PMID:31064749 NCBI chr22:36,281,280...36,387,967
Ensembl chr22:36,281,280...36,388,010 		JBrowse link
G RUNX1 RUNX family transcription factor 1 IAGP HPO MIM:601399 NCBI chr21:34,787,801...35,049,302
Ensembl chr21:34,787,801...36,004,667 		JBrowse link
Abnormal platelet volume term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANKRD26 ankyrin repeat domain containing 26 IAGP HPO MIM:188000 NCBI chr10:26,947,582...27,100,494
Ensembl chr10:26,973,793...27,100,494 		JBrowse link
G CYCS cytochrome c, somatic IAGP HPO MIM:612004 NCBI chr 7:25,118,656...25,125,260
Ensembl chr 7:25,118,656...25,125,260 		JBrowse link
Absence of alpha granules term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GFI1B growth factor independent 1B transcriptional repressor IAGP HPO MIM:187900 NCBI chr 9:132,945,531...132,993,434
Ensembl chr 9:132,944,000...132,991,687 		JBrowse link
Absent platelet dense granules term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AP3B1 adaptor related protein complex 3 subunit beta 1 IAGP HPO MIM:608233 NCBI chr 5:78,000,522...78,294,698
Ensembl chr 5:77,991,640...78,294,762 		JBrowse link
G HPS4 HPS4 biogenesis of lysosomal organelles complex 3 subunit 2 IAGP HPO MIM:614073 NCBI chr22:26,443,109...26,483,863
Ensembl chr22:26,443,107...26,483,931 		JBrowse link
G HPS5 HPS5 biogenesis of lysosomal organelles complex 2 subunit 2 IAGP HPO MIM:614074 NCBI chr11:18,278,670...18,322,174
Ensembl chr11:18,278,668...18,322,198 		JBrowse link
G HPS6 HPS6 biogenesis of lysosomal organelles complex 2 subunit 3 IAGP HPO MIM:614075 NCBI chr10:102,065,349...102,068,036
Ensembl chr10:102,065,349...102,068,036 		JBrowse link
Amegakaryocytic thrombocytopenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BRAF B-Raf proto-oncogene, serine/threonine kinase IAGP HPO MIM:163950 NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929 		JBrowse link
G HOXA11 homeobox A11 IAGP HPO MIM:605432 ORPHA:71289 NCBI chr 7:27,181,157...27,185,232
Ensembl chr 7:27,181,157...27,185,232 		JBrowse link
G MAP2K1 mitogen-activated protein kinase kinase 1 IAGP HPO MIM:163950 NCBI chr15:66,386,912...66,491,544
Ensembl chr15:66,386,837...66,491,656 		JBrowse link
G MECOM MDS1 and EVI1 complex locus IAGP HPO ORPHA:71289 NCBI chr 3:169,083,507...169,663,712
Ensembl chr 3:169,083,499...169,663,775 		JBrowse link
G MPL MPL proto-oncogene, thrombopoietin receptor IAGP HPO MIM:604498 NCBI chr 1:43,337,818...43,354,466
Ensembl chr 1:43,337,818...43,354,466 		JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 IAGP HPO MIM:163950 NCBI chr12:112,418,947...112,509,918
Ensembl chr12:112,418,351...112,509,918 		JBrowse link
Autoimmune thrombocytopenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACP5 acid phosphatase 5, tartrate resistant IAGP HPO MIM:607944 ORPHA:1855 NCBI chr19:11,574,660...11,578,975
Ensembl chr19:11,574,653...11,579,993 		JBrowse link
G ADA adenosine deaminase IAGP HPO MIM:102700 NCBI chr20:44,619,522...44,651,699
Ensembl chr20:44,584,896...44,652,252 		JBrowse link
G ARHGEF1 Rho guanine nucleotide exchange factor 1 IAGP HPO MIM:618459 NCBI chr19:41,883,184...41,930,141
Ensembl chr19:41,883,173...41,930,150 		JBrowse link
G ARPC5 actin related protein 2/3 complex subunit 5 IAGP HPO MIM:620565 NCBI chr 1:183,620,846...183,635,783
Ensembl chr 1:183,620,846...183,635,783 		JBrowse link
G CASP10 caspase 10 IAGP HPO MIM:603909 ORPHA:3261 NCBI chr 2:201,183,141...201,229,406
Ensembl chr 2:201,182,872...201,229,428 		JBrowse link
G CD19 CD19 molecule IAGP HPO ORPHA:1572 NCBI chr16:28,931,971...28,939,342
Ensembl chr16:28,931,965...28,939,342 		JBrowse link
G CD81 CD81 molecule IAGP HPO MIM:613496 ORPHA:1572 NCBI chr11:2,376,180...2,397,397
Ensembl chr11:2,376,177...2,397,802 		JBrowse link
G CIITA class II major histocompatibility complex transactivator IAGP HPO ORPHA:572 NCBI chr16:10,866,206...10,943,021
Ensembl chr16:10,866,222...10,943,021 		JBrowse link
G CR2 complement C3d receptor 2 IAGP HPO ORPHA:1572 NCBI chr 1:207,454,328...207,489,892
Ensembl chr 1:207,453,024...207,489,895 		JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 IAGP HPO MIM:616100 ORPHA:436159 NCBI chr 2:203,867,771...203,873,965
Ensembl chr 2:203,853,888...203,873,965 		JBrowse link
G CTNNBL1 catenin beta like 1 IAGP HPO MIM:619846 NCBI chr20:37,694,030...37,872,118
Ensembl chr20:37,694,030...37,872,129 		JBrowse link
G DOCK11 dedicator of cytokinesis 11 IAGP HPO MIM:301109 NCBI chr  X:118,495,815...118,686,147
Ensembl chr  X:118,495,815...118,686,163 		JBrowse link
G FAS Fas cell surface death receptor IAGP HPO MIM:601859 ORPHA:3261 NCBI chr10:88,964,050...89,017,059
Ensembl chr10:88,953,813...89,029,605 		JBrowse link
G FASLG Fas ligand IAGP HPO MIM:601859 ORPHA:3261 NCBI chr 1:172,659,103...172,666,876
Ensembl chr 1:172,659,103...172,666,876 		JBrowse link
G FOXP3 forkhead box P3 IAGP HPO MIM:304790 ORPHA:37042 NCBI chr  X:49,250,438...49,264,710
Ensembl chr  X:49,250,438...49,264,800 		JBrowse link
G GALC galactosylceramidase IAGP HPO MIM:245200 NCBI chr14:87,933,014...87,993,667
Ensembl chr14:87,837,820...87,993,665 		JBrowse link
G ICOS inducible T cell costimulator IAGP HPO ORPHA:1572 NCBI chr 2:203,936,763...203,961,577
Ensembl chr 2:203,936,763...203,961,577 		JBrowse link
G IL7R interleukin 7 receptor IAGP HPO ORPHA:169154 NCBI chr 5:35,856,891...35,879,603
Ensembl chr 5:35,852,695...35,879,603 		JBrowse link
G IRF2BP2 interferon regulatory factor 2 binding protein 2 IAGP HPO ORPHA:1572 NCBI chr 1:234,604,269...234,610,178
Ensembl chr 1:234,602,300...234,610,178 		JBrowse link
G ITK IL2 inducible T cell kinase IAGP HPO MIM:613011 NCBI chr 5:157,180,840...157,255,185
Ensembl chr 5:157,142,933...157,255,185 		JBrowse link
G KDM6A lysine demethylase 6A IAGP HPO MIM:147920 NCBI chr  X:44,873,188...45,112,779
Ensembl chr  X:44,873,188...45,112,779 		JBrowse link
G KMT2D lysine methyltransferase 2D IAGP HPO MIM:147920 NCBI chr12:49,018,978...49,060,794
Ensembl chr12:49,018,975...49,060,794 		JBrowse link
G KRAS KRAS proto-oncogene, GTPase IAGP HPO MIM:614470 NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936 		JBrowse link
G LAT linker for activation of T cells IAGP HPO MIM:617514 NCBI chr16:28,984,803...28,990,784
Ensembl chr16:28,984,826...28,990,784 		JBrowse link
G LOC130058479 ATAC-STARR-seq lymphoblastoid silent region 7198 IAGP ClinVar Annotator: match by term: Autoimmune thrombocytopenia ClinVar PMID:32853638 PMID:33087723 NCBI chr16:11,255,350...11,255,499 JBrowse link
G LRBA LPS responsive beige-like anchor protein IAGP HPO MIM:614700 NCBI chr 4:150,264,435...151,015,727
Ensembl chr 4:150,264,435...151,015,727 		JBrowse link
G MAGT1 magnesium transporter 1 IAGP HPO MIM:300853 NCBI chr  X:77,825,747...77,895,568
Ensembl chr  X:77,825,747...77,899,271 		JBrowse link
G MS4A1 membrane spanning 4-domains A1 IAGP HPO ORPHA:1572 NCBI chr11:60,455,847...60,470,752
Ensembl chr11:60,455,846...60,470,752 		JBrowse link
G NFKB1 nuclear factor kappa B subunit 1 IAGP HPO ORPHA:1572 NCBI chr 4:102,501,359...102,617,302
Ensembl chr 4:102,501,330...102,617,302 		JBrowse link
G NFKB2 nuclear factor kappa B subunit 2 IAGP HPO ORPHA:1572 ORPHA:293978 NCBI chr10:102,394,110...102,402,529
Ensembl chr10:102,394,110...102,402,524 		JBrowse link
G NRAS NRAS proto-oncogene, GTPase IAGP HPO MIM:614470 NCBI chr 1:114,704,469...114,716,771
Ensembl chr 1:114,704,469...114,716,771 		JBrowse link
G PNP purine nucleoside phosphorylase IAGP HPO MIM:613179 ORPHA:760 NCBI chr14:20,469,406...20,477,089
Ensembl chr14:20,461,992...20,477,094 		JBrowse link
G PRKCD protein kinase C delta IAGP HPO MIM:615559 ORPHA:1572 NCBI chr 3:53,161,209...53,192,717
Ensembl chr 3:53,156,009...53,192,717 		JBrowse link
G RASGRP1 RAS guanyl releasing protein 1 IAGP HPO MIM:618534 NCBI chr15:38,488,103...38,564,814
Ensembl chr15:38,488,103...38,565,575 		JBrowse link
G RFX5 regulatory factor X5 IAGP HPO ORPHA:572 NCBI chr 1:151,340,640...151,347,252
Ensembl chr 1:151,340,640...151,347,326 		JBrowse link
G RFXANK regulatory factor X associated ankyrin containing protein IAGP HPO ORPHA:572 NCBI chr19:19,192,258...19,201,866
Ensembl chr19:19,192,229...19,201,869 		JBrowse link
G RFXAP regulatory factor X associated protein IAGP HPO ORPHA:572 NCBI chr13:36,819,222...36,829,104
Ensembl chr13:36,819,222...36,829,104 		JBrowse link
G SASH3 SAM and SH3 domain containing 3 IAGP HPO MIM:301082 NCBI chr  X:129,779,949...129,795,201
Ensembl chr  X:129,779,949...129,795,201 		JBrowse link
G SMPD1 sphingomyelin phosphodiesterase 1 IAGP HPO ORPHA:77293 NCBI chr11:6,390,474...6,394,996
Ensembl chr11:6,390,440...6,394,998 		JBrowse link
G SOCS1 suppressor of cytokine signaling 1 IAGP ClinVar Annotator: match by term: Idiopathic thrombocytopenic purpura ClinVar
HPO		 PMID:32853638 PMID:33087723 MIM:619375 NCBI chr16:11,254,417...11,256,204
Ensembl chr16:11,254,417...11,256,204 		JBrowse link
G STAT1 signal transducer and activator of transcription 1 IAGP HPO ORPHA:391487 NCBI chr 2:190,969,149...191,014,171
Ensembl chr 2:190,908,460...191,020,960 		JBrowse link
G STAT3 signal transducer and activator of transcription 3 IAGP HPO MIM:615952 NCBI chr17:42,313,324...42,388,442
Ensembl chr17:42,313,324...42,388,568 		JBrowse link
G STIM1 stromal interaction molecule 1 IAGP HPO MIM:612783 NCBI chr11:3,854,604...4,093,210
Ensembl chr11:3,854,527...4,093,210 		JBrowse link
G TLR7 toll like receptor 7 IAGP HPO MIM:301080 NCBI chr  X:12,867,072...12,890,361
Ensembl chr  X:12,867,072...12,890,361 		JBrowse link
G TNFRSF13B TNF receptor superfamily member 13B IAGP HPO ORPHA:1572 NCBI chr17:16,939,081...16,972,118
Ensembl chr17:16,929,816...16,972,118 		JBrowse link
G TNFRSF13C TNF receptor superfamily member 13C IAGP HPO ORPHA:1572 NCBI chr22:41,922,032...41,926,806
Ensembl chr22:41,922,032...41,926,806 		JBrowse link
G TNFSF12 TNF superfamily member 12 IAGP HPO ORPHA:1572 NCBI chr17:7,549,058...7,557,881
Ensembl chr17:7,548,508...7,557,890 		JBrowse link
G TOM1 target of myb1 membrane trafficking protein IAGP HPO ORPHA:391487 NCBI chr22:35,299,275...35,347,973
Ensembl chr22:35,299,275...35,347,992 		JBrowse link
G TPP2 tripeptidyl peptidase 2 IAGP HPO MIM:619220 ORPHA:444463 NCBI chr13:102,596,986...102,679,958
Ensembl chr13:102,596,958...102,679,958 		JBrowse link
G ZAP70 zeta chain of T cell receptor associated protein kinase 70 IAGP HPO ORPHA:911 NCBI chr 2:97,713,576...97,756,364
Ensembl chr 2:97,713,576...97,744,327 		JBrowse link
Congenital thrombocytopenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GATA1 GATA binding protein 1 IAGP HPO MIM:300367 NCBI chr  X:48,786,590...48,794,311
Ensembl chr  X:48,786,540...48,794,311 		JBrowse link
G HOXA11 homeobox A11 IAGP HPO MIM:605432 NCBI chr 7:27,181,157...27,185,232
Ensembl chr 7:27,181,157...27,185,232 		JBrowse link
G MECOM MDS1 and EVI1 complex locus IAGP HPO MIM:616738 NCBI chr 3:169,083,507...169,663,712
Ensembl chr 3:169,083,499...169,663,775 		JBrowse link
G MYH9 myosin heavy chain 9 IAGP HPO ORPHA:182050 NCBI chr22:36,281,280...36,387,967
Ensembl chr22:36,281,280...36,388,010 		JBrowse link
G STAT2 signal transducer and activator of transcription 2 IAGP HPO MIM:618886 NCBI chr12:56,341,597...56,360,107
Ensembl chr12:56,341,597...56,360,203 		JBrowse link
G WAS WASP actin nucleation promoting factor IAGP HPO MIM:313900 NCBI chr  X:48,676,636...48,691,427
Ensembl chr  X:48,676,596...48,691,431 		JBrowse link
Decreased mean platelet volume term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARPC1B actin related protein 2/3 complex subunit 1B IAGP HPO MIM:617718 NCBI chr 7:99,374,259...99,394,816
Ensembl chr 7:99,374,249...99,394,816 		JBrowse link
G FYB1 FYN binding protein 1 IAGP HPO MIM:273900 NCBI chr 5:39,105,252...39,274,528
Ensembl chr 5:39,105,252...39,274,528 		JBrowse link
G IFNL4 interferon lambda 4 (gene/pseudogene) IAGP DNA:SNP:intron: (rs12979860) (human) RGD PMID:25740255 RGD:40400752 NCBI chr19:39,246,314...39,248,856
Ensembl chr19:39,246,314...39,248,856 		JBrowse link
G PTPRJ protein tyrosine phosphatase receptor type J IAGP HPO MIM:620484 NCBI chr11:47,980,559...48,170,839
Ensembl chr11:47,980,425...48,170,839 		JBrowse link
G WAS WASP actin nucleation promoting factor IAGP HPO MIM:301000 MIM:313900 NCBI chr  X:48,676,636...48,691,427
Ensembl chr  X:48,676,596...48,691,431 		JBrowse link
Decreased platelet glycoprotein Ib term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GFI1B growth factor independent 1B transcriptional repressor IAGP DNA:nonsense mutation:c.859C>T, p.Gln287X(human) RGD PMID:24325358 RGD:11040508 NCBI chr 9:132,945,531...132,993,434
Ensembl chr 9:132,944,000...132,991,687 		JBrowse link
G SLC35A1 solute carrier family 35 member A1 IAGP HPO MIM:603585 NCBI chr 6:87,472,974...87,512,336
Ensembl chr 6:87,470,623...87,512,336 		JBrowse link
Decreased platelet glycoprotein Ib-IX-V term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GP1BA glycoprotein Ib platelet subunit alpha IAGP HPO ORPHA:274 NCBI chr17:4,932,277...4,935,023
Ensembl chr17:4,932,277...4,935,023 		JBrowse link
G GP1BB glycoprotein Ib platelet subunit beta IAGP HPO ORPHA:274 NCBI chr22:19,723,539...19,724,771
Ensembl chr22:19,723,539...19,724,771 		JBrowse link
G GP9 glycoprotein IX platelet IAGP HPO ORPHA:274 NCBI chr 3:129,054,845...129,062,406
Ensembl chr 3:129,060,779...129,062,406 		JBrowse link
Decreased platelet glycoprotein IIb-IIIa term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EFCAB13-DT EFCAB13 divergent transcript IAGP ClinVar Annotator: match by term: Glanzmann thrombasthenia ClinVar PMID:1438206 PMID:8080992 PMID:9351872 PMID:20106508 PMID:21917754 More... NCBI chr17:47,303,443...47,323,901
Ensembl chr17:47,279,525...47,492,672 		JBrowse link
G ITGA2B integrin subunit alpha 2b IAGP ClinVar Annotator: match by term: Glanzmann thrombasthenia ClinVar
HPO		 PMID:1317725 PMID:1638023 PMID:1926040 PMID:2014236 PMID:7508443 More... MIM:273800 NCBI chr17:44,372,181...44,389,649
Ensembl chr17:44,372,180...44,389,649 		JBrowse link
G ITGB3 integrin subunit beta 3 IAGP ClinVar Annotator: match by term: Glanzmann thrombasthenia ClinVar
HPO		 PMID:1371279 PMID:1430225 PMID:1438206 PMID:1602006 PMID:2014236 More... MIM:619267 NCBI chr17:47,253,827...47,313,743
Ensembl chr17:47,253,827...47,313,743 		JBrowse link
G LOC110121475 VISTA enhancer hs2033 IAGP ClinVar Annotator: match by term: Glanzmann thrombasthenia ClinVar NCBI chr17:47,291,162...47,292,148 JBrowse link
G LOC130060983 ATAC-STARR-seq lymphoblastoid active region 12261 IAGP ClinVar Annotator: match by term: Glanzmann thrombasthenia ClinVar PMID:1926040 PMID:15717695 PMID:16359514 PMID:21917754 PMID:25741868 More... NCBI chr17:44,385,710...44,385,849 JBrowse link
G LOC130061041 ATAC-STARR-seq lymphoblastoid silent region 8624 IAGP ClinVar Annotator: match by term: Glanzmann thrombasthenia ClinVar PMID:25741868 PMID:28492532 NCBI chr17:47,253,622...47,253,881 JBrowse link
G LOC130061043 ATAC-STARR-seq lymphoblastoid active region 12307 IAGP ClinVar Annotator: match by term: Glanzmann thrombasthenia ClinVar PMID:11722423 PMID:14690453 PMID:25539746 PMID:25741868 PMID:28492532 More... NCBI chr17:47,286,260...47,286,309 JBrowse link
G LOC130061044 ATAC-STARR-seq lymphoblastoid active region 12308 IAGP ClinVar Annotator: match by term: Glanzmann thrombasthenia ClinVar PMID:9215749 PMID:16199547 PMID:21917754 PMID:25728920 PMID:25741868 More... NCBI chr17:47,286,400...47,286,689 JBrowse link
G LOC130061045 ATAC-STARR-seq lymphoblastoid active region 12309 IAGP ClinVar Annotator: match by term: Glanzmann thrombasthenia ClinVar PMID:20020534 PMID:21113249 PMID:25741868 PMID:28492532 PMID:31064749 More... NCBI chr17:47,287,100...47,287,149 JBrowse link
G MSH6 mutS homolog 6 IAGP ClinVar Annotator: match by term: Glanzmann thrombasthenia ClinVar PMID:25326637 PMID:25741868 PMID:28492532 NCBI chr 2:47,783,145...47,810,101
Ensembl chr 2:47,695,530...47,810,063 		JBrowse link
Enlarged platelet dense granules term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AP3B1 adaptor related protein complex 3 subunit beta 1 IAGP HPO MIM:608233 NCBI chr 5:78,000,522...78,294,698
Ensembl chr 5:77,991,640...78,294,762 		JBrowse link
Giant platelets term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCG8 ATP binding cassette subfamily G member 8 IAGP HPO MIM:210250 NCBI chr 2:43,838,971...43,882,988
Ensembl chr 2:43,831,942...43,882,988 		JBrowse link
G CD36 CD36 molecule (CD36 blood group) IAGP HPO MIM:608404 NCBI chr 7:80,602,207...80,679,274
Ensembl chr 7:80,369,575...80,679,277 		JBrowse link
G COG1 component of oligomeric golgi complex 1 IAGP HPO MIM:611209 NCBI chr17:73,193,055...73,208,507
Ensembl chr17:73,193,055...73,208,507 		JBrowse link
G GP1BA glycoprotein Ib platelet subunit alpha IAGP HPO MIM:231200 ORPHA:274 NCBI chr17:4,932,277...4,935,023
Ensembl chr17:4,932,277...4,935,023 		JBrowse link
G GP1BB glycoprotein Ib platelet subunit beta IAGP DNA:mutations:cds:p.Y88C,A108P(human) HPO
RGD		 PMID:9116284 MIM:231200 ORPHA:274, RGD:11040528 NCBI chr22:19,723,539...19,724,771
Ensembl chr22:19,723,539...19,724,771 		JBrowse link
G GP9 glycoprotein IX platelet IAGP HPO MIM:231200 ORPHA:274 NCBI chr 3:129,054,845...129,062,406
Ensembl chr 3:129,060,779...129,062,406 		JBrowse link
G ITGA2B integrin subunit alpha 2b IAGP HPO MIM:187800 NCBI chr17:44,372,181...44,389,649
Ensembl chr17:44,372,180...44,389,649 		JBrowse link
G LBR lamin B receptor IAGP HPO MIM:169400 NCBI chr 1:225,401,502...225,428,821
Ensembl chr 1:225,401,502...225,428,925 		JBrowse link
G MYH9 myosin heavy chain 9 IAGP associated with MYH9-Related Disorders;DNA:mutation:cds:p.D1424N(human) HPO
RGD		 PMID:12649151 MIM:155100 ORPHA:182050, RGD:11533923 NCBI chr22:36,281,280...36,387,967
Ensembl chr22:36,281,280...36,388,010 		JBrowse link
G SLC35A1 solute carrier family 35 member A1 IAGP HPO ORPHA:238459 NCBI chr 6:87,472,974...87,512,336
Ensembl chr 6:87,470,623...87,512,336 		JBrowse link
Impaired ADP-induced platelet aggregation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTN1 actinin alpha 1 IAGP HPO MIM:615193 NCBI chr14:68,874,128...68,979,302
Ensembl chr14:68,874,123...68,979,440 		JBrowse link
G AP3B1 adaptor related protein complex 3 subunit beta 1 IAGP HPO MIM:608233 NCBI chr 5:78,000,522...78,294,698
Ensembl chr 5:77,991,640...78,294,762 		JBrowse link
G CALR calreticulin IAGP HPO MIM:187950 NCBI chr19:12,938,609...12,944,489
Ensembl chr19:12,938,578...12,944,489 		JBrowse link
G EPHB2 EPH receptor B2 IAGP HPO MIM:618462 NCBI chr 1:22,710,838...22,921,500
Ensembl chr 1:22,710,839...22,921,500 		JBrowse link
G FLI1 Fli-1 proto-oncogene, ETS transcription factor IAGP HPO MIM:617443 NCBI chr11:128,685,351...128,813,267
Ensembl chr11:128,686,535...128,813,267 		JBrowse link
G GP1BA glycoprotein Ib platelet subunit alpha IAGP HPO MIM:153670 NCBI chr17:4,932,277...4,935,023
Ensembl chr17:4,932,277...4,935,023 		JBrowse link
G HPS5 HPS5 biogenesis of lysosomal organelles complex 2 subunit 2 IAGP HPO MIM:614074 NCBI chr11:18,278,670...18,322,174
Ensembl chr11:18,278,668...18,322,198 		JBrowse link
G HPS6 HPS6 biogenesis of lysosomal organelles complex 2 subunit 3 IAGP HPO MIM:614075 NCBI chr10:102,065,349...102,068,036
Ensembl chr10:102,065,349...102,068,036 		JBrowse link
G IKZF5 IKAROS family zinc finger 5 IAGP HPO MIM:619130 NCBI chr10:122,990,806...123,008,795
Ensembl chr10:122,990,807...123,008,812 		JBrowse link
G ITGA2B integrin subunit alpha 2b IAGP HPO MIM:273800 ORPHA:849 NCBI chr17:44,372,181...44,389,649
Ensembl chr17:44,372,180...44,389,649 		JBrowse link
G ITGB3 integrin subunit beta 3 IAGP HPO MIM:619267 MIM:619271 ORPHA:849 NCBI chr17:47,253,827...47,313,743
Ensembl chr17:47,253,827...47,313,743 		JBrowse link
G MED12L mediator complex subunit 12L IAGP ClinVar Annotator: match by term: Impaired ADP-induced platelet aggregation ClinVar PMID:25741868 PMID:29117459 PMID:31064749 NCBI chr 3:151,085,664...151,436,653
Ensembl chr 3:151,085,286...151,437,072 		JBrowse link
G MYH9 myosin heavy chain 9 IAGP HPO MIM:155100 NCBI chr22:36,281,280...36,387,967
Ensembl chr22:36,281,280...36,388,010 		JBrowse link
G P2RY12 purinergic receptor P2Y12 IAGP ClinVar Annotator: match by term: Impaired ADP-induced platelet aggregation ClinVar
HPO		 PMID:25741868 PMID:29117459 PMID:31064749 MIM:609821 NCBI chr 3:151,336,843...151,384,753
Ensembl chr 3:151,336,843...151,384,753 		JBrowse link
G RASGRP2 RAS guanyl releasing protein 2 IAGP HPO MIM:615888 NCBI chr11:64,726,911...64,745,456
Ensembl chr11:64,726,911...64,745,456 		JBrowse link
G RUNX1 RUNX family transcription factor 1 IAGP HPO MIM:601399 NCBI chr21:34,787,801...35,049,302
Ensembl chr21:34,787,801...36,004,667 		JBrowse link
G SH2B3 SH2B adaptor protein 3 IAGP HPO MIM:187950 NCBI chr12:111,404,730...111,451,623
Ensembl chr12:111,405,923...111,451,623 		JBrowse link
G THPO thrombopoietin IAGP HPO MIM:187950 NCBI chr 3:184,371,935...184,379,688
Ensembl chr 3:184,371,935...184,381,968 		JBrowse link
G TPM4 tropomyosin 4 IAGP HPO MIM:620486 NCBI chr19:16,067,538...16,103,002
Ensembl chr19:16,067,021...16,103,005 		JBrowse link
Impaired arachidonic acid-induced platelet aggregation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EPHB2 EPH receptor B2 IAGP HPO MIM:618462 NCBI chr 1:22,710,838...22,921,500
Ensembl chr 1:22,710,839...22,921,500 		JBrowse link
G HPS6 HPS6 biogenesis of lysosomal organelles complex 2 subunit 3 IAGP HPO MIM:614075 NCBI chr10:102,065,349...102,068,036
Ensembl chr10:102,065,349...102,068,036 		JBrowse link
G IKZF5 IKAROS family zinc finger 5 IAGP HPO MIM:619130 NCBI chr10:122,990,806...123,008,795
Ensembl chr10:122,990,807...123,008,812 		JBrowse link
G ITGA2B integrin subunit alpha 2b IAGP HPO ORPHA:849 NCBI chr17:44,372,181...44,389,649
Ensembl chr17:44,372,180...44,389,649 		JBrowse link
G ITGB3 integrin subunit beta 3 IAGP HPO MIM:619271 ORPHA:849 NCBI chr17:47,253,827...47,313,743
Ensembl chr17:47,253,827...47,313,743 		JBrowse link
G RUNX1 RUNX family transcription factor 1 IAGP HPO MIM:601399 NCBI chr21:34,787,801...35,049,302
Ensembl chr21:34,787,801...36,004,667 		JBrowse link
G TBXA2R thromboxane A2 receptor IAGP HPO MIM:614009 NCBI chr19:3,594,507...3,606,875
Ensembl chr19:3,594,507...3,606,875 		JBrowse link
Impaired clot retraction term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTN1 actinin alpha 1 IAGP HPO MIM:615193 NCBI chr14:68,874,128...68,979,302
Ensembl chr14:68,874,123...68,979,440 		JBrowse link
G ITGA2B integrin subunit alpha 2b IAGP HPO MIM:273800 NCBI chr17:44,372,181...44,389,649
Ensembl chr17:44,372,180...44,389,649 		JBrowse link
G ITGB3 integrin subunit beta 3 IAGP HPO MIM:619267 NCBI chr17:47,253,827...47,313,743
Ensembl chr17:47,253,827...47,313,743 		JBrowse link
Impaired collagen-induced platelet aggregation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BLOC1S5 biogenesis of lysosomal organelles complex 1 subunit 5 IAGP HPO MIM:619172 NCBI chr 6:8,013,567...8,064,414
Ensembl chr 6:8,013,567...8,064,396 		JBrowse link
G CALR calreticulin IAGP HPO MIM:187950 NCBI chr19:12,938,609...12,944,489
Ensembl chr19:12,938,578...12,944,489 		JBrowse link
G CISD2 CDGSH iron sulfur domain 2 IAGP HPO MIM:604928 NCBI chr 4:102,868,992...102,892,807
Ensembl chr 4:102,868,974...102,892,807 		JBrowse link
G EPHB2 EPH receptor B2 IAGP HPO MIM:618462 NCBI chr 1:22,710,838...22,921,500
Ensembl chr 1:22,710,839...22,921,500 		JBrowse link
G GFI1B growth factor independent 1B transcriptional repressor IAGP HPO MIM:187900 NCBI chr 9:132,945,531...132,993,434
Ensembl chr 9:132,944,000...132,991,687 		JBrowse link
G GP6 glycoprotein VI platelet IAGP DNA:insertion:exon 6:c.711_712insA HPO
RGD		 PMID:23815599 MIM:614201, RGD:401794132 NCBI chr19:55,013,705...55,038,264
Ensembl chr19:55,013,705...55,038,264 		JBrowse link
G HPS6 HPS6 biogenesis of lysosomal organelles complex 2 subunit 3 IAGP HPO MIM:614075 NCBI chr10:102,065,349...102,068,036
Ensembl chr10:102,065,349...102,068,036 		JBrowse link
G IKZF5 IKAROS family zinc finger 5 IAGP HPO MIM:619130 NCBI chr10:122,990,806...123,008,795
Ensembl chr10:122,990,807...123,008,812 		JBrowse link
G ITGA2B integrin subunit alpha 2b IAGP HPO MIM:273800 NCBI chr17:44,372,181...44,389,649
Ensembl chr17:44,372,180...44,389,649 		JBrowse link
G ITGB3 integrin subunit beta 3 IAGP HPO MIM:619267 MIM:619271 NCBI chr17:47,253,827...47,313,743
Ensembl chr17:47,253,827...47,313,743 		JBrowse link
G LCP2 lymphocyte cytosolic protein 2 IAGP HPO MIM:619374 NCBI chr 5:170,246,233...170,297,777
Ensembl chr 5:170,246,233...170,297,815 		JBrowse link
G NBEAL2 neurobeachin like 2 IAGP HPO MIM:139090 NCBI chr 3:46,979,666...47,009,701
Ensembl chr 3:46,979,666...47,009,704 		JBrowse link
G RUNX1 RUNX family transcription factor 1 IAGP HPO MIM:601399 NCBI chr21:34,787,801...35,049,302
Ensembl chr21:34,787,801...36,004,667 		JBrowse link
G SH2B3 SH2B adaptor protein 3 IAGP HPO MIM:187950 NCBI chr12:111,404,730...111,451,623
Ensembl chr12:111,405,923...111,451,623 		JBrowse link
G THPO thrombopoietin IAGP HPO MIM:187950 NCBI chr 3:184,371,935...184,379,688
Ensembl chr 3:184,371,935...184,381,968 		JBrowse link
G TPM4 tropomyosin 4 IAGP HPO MIM:620486 NCBI chr19:16,067,538...16,103,002
Ensembl chr19:16,067,021...16,103,005 		JBrowse link
Impaired collagen-related peptide-induced platelet aggregation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GP1BA glycoprotein Ib platelet subunit alpha IAGP HPO MIM:153670 NCBI chr17:4,932,277...4,935,023
Ensembl chr17:4,932,277...4,935,023 		JBrowse link
G GP6 glycoprotein VI platelet IAGP DNA:insertion:exon 6:c.711_712insA RGD PMID:23815599 RGD:401794132 NCBI chr19:55,013,705...55,038,264
Ensembl chr19:55,013,705...55,038,264 		JBrowse link
G ITGA2B integrin subunit alpha 2b IAGP HPO ORPHA:849 NCBI chr17:44,372,181...44,389,649
Ensembl chr17:44,372,180...44,389,649 		JBrowse link
G ITGB3 integrin subunit beta 3 IAGP HPO ORPHA:849 NCBI chr17:47,253,827...47,313,743
Ensembl chr17:47,253,827...47,313,743 		JBrowse link
Impaired convulxin-induced platelet aggregation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GP6 glycoprotein VI platelet IAGP DNA:insertion:exon 6:c.711_712insA RGD PMID:23815599 RGD:401794132 NCBI chr19:55,013,705...55,038,264
Ensembl chr19:55,013,705...55,038,264 		JBrowse link
Impaired epinephrine-induced platelet aggregation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CALR calreticulin IAGP HPO MIM:187950 NCBI chr19:12,938,609...12,944,489
Ensembl chr19:12,938,578...12,944,489 		JBrowse link
G GFI1B growth factor independent 1B transcriptional repressor IAGP HPO MIM:187900 NCBI chr 9:132,945,531...132,993,434
Ensembl chr 9:132,944,000...132,991,687 		JBrowse link
G ITGA2B integrin subunit alpha 2b IAGP HPO MIM:273800 ORPHA:849 NCBI chr17:44,372,181...44,389,649
Ensembl chr17:44,372,180...44,389,649 		JBrowse link
G ITGB3 integrin subunit beta 3 IAGP HPO MIM:619267 MIM:619271 ORPHA:849 NCBI chr17:47,253,827...47,313,743
Ensembl chr17:47,253,827...47,313,743 		JBrowse link
G MYH9 myosin heavy chain 9 IAGP HPO MIM:155100 NCBI chr22:36,281,280...36,387,967
Ensembl chr22:36,281,280...36,388,010 		JBrowse link
G PLAU plasminogen activator, urokinase IAGP HPO MIM:601709 NCBI chr10:73,909,164...73,917,494
Ensembl chr10:73,909,177...73,917,496 		JBrowse link
G RASGRP2 RAS guanyl releasing protein 2 IAGP HPO MIM:615888 NCBI chr11:64,726,911...64,745,456
Ensembl chr11:64,726,911...64,745,456 		JBrowse link
G SH2B3 SH2B adaptor protein 3 IAGP HPO MIM:187950 NCBI chr12:111,404,730...111,451,623
Ensembl chr12:111,405,923...111,451,623 		JBrowse link
G THPO thrombopoietin IAGP HPO MIM:187950 NCBI chr 3:184,371,935...184,379,688
Ensembl chr 3:184,371,935...184,381,968 		JBrowse link
Impaired platelet aggregation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCG8 ATP binding cassette subfamily G member 8 IAGP HPO MIM:210250 NCBI chr 2:43,838,971...43,882,988
Ensembl chr 2:43,831,942...43,882,988 		JBrowse link
G BLOC1S3 biogenesis of lysosomal organelles complex 1 subunit 3 IAGP HPO MIM:614077 NCBI chr19:45,178,784...45,217,083
Ensembl chr19:45,178,784...45,216,933 		JBrowse link
G DIAPH1 diaphanous related formin 1 IAGP HPO MIM:124900 NCBI chr 5:141,515,021...141,619,000
Ensembl chr 5:141,515,016...141,619,055 		JBrowse link
G DTNBP1 dystrobrevin binding protein 1 IAGP HPO MIM:614076 NCBI chr 6:15,522,807...15,663,058
Ensembl chr 6:15,522,807...15,663,058 		JBrowse link
G FLI1 Fli-1 proto-oncogene, ETS transcription factor IAGP HPO MIM:617443 NCBI chr11:128,685,351...128,813,267
Ensembl chr11:128,686,535...128,813,267 		JBrowse link
G GATA1 GATA binding protein 1 IAGP HPO MIM:300835 NCBI chr  X:48,786,590...48,794,311
Ensembl chr  X:48,786,540...48,794,311 		JBrowse link
G GP1BB glycoprotein Ib platelet subunit beta IAGP DNA:missense mutation:exon:c.281A>G(p.D94G)(human)
DNA:mutations:cds:p.Y88C,A108P(human)		 RGD PMID:28131619 PMID:9116284 RGD:13464128, RGD:11040528 NCBI chr22:19,723,539...19,724,771
Ensembl chr22:19,723,539...19,724,771 		JBrowse link
G GP9 glycoprotein IX platelet IAGP DNA:missense mutation:cds:c.182A>G(p.N61S)(human) RGD PMID:28131619 RGD:13464128 NCBI chr 3:129,054,845...129,062,406
Ensembl chr 3:129,060,779...129,062,406 		JBrowse link
G HPS3 HPS3 biogenesis of lysosomal organelles complex 2 subunit 1 IAGP HPO MIM:614072 NCBI chr 3:149,129,638...149,173,732
Ensembl chr 3:149,129,638...149,173,732 		JBrowse link
G ITGA2B integrin subunit alpha 2b IAGP HPO MIM:187800 MIM:273800 NCBI chr17:44,372,181...44,389,649
Ensembl chr17:44,372,180...44,389,649 		JBrowse link
G KCNJ1 potassium inwardly rectifying channel subfamily J member 1 IAGP HPO MIM:241200 NCBI chr11:128,838,020...128,867,296
Ensembl chr11:128,836,315...128,867,373 		JBrowse link
G MGAT2 alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase IAGP HPO ORPHA:79329 NCBI chr14:49,620,799...49,623,481
Ensembl chr14:49,620,799...49,623,481 		JBrowse link
G PLA2G4A phospholipase A2 group IVA IAGP HPO MIM:618372 NCBI chr 1:186,828,949...186,988,981
Ensembl chr 1:186,828,949...186,988,981 		JBrowse link
G RUNX1 RUNX family transcription factor 1 IAGP HPO MIM:601399 NCBI chr21:34,787,801...35,049,302
Ensembl chr21:34,787,801...36,004,667 		JBrowse link
G TBXA2R thromboxane A2 receptor IAGP DNA:mutation:cds:p.R60L(human) RGD PMID:7929844 RGD:1578439 NCBI chr19:3,594,507...3,606,875
Ensembl chr19:3,594,507...3,606,875 		JBrowse link
G TUBB1 tubulin beta 1 class VI IAGP HPO MIM:613112 NCBI chr20:59,016,438...59,026,654
Ensembl chr20:59,019,429...59,026,654 		JBrowse link
G VWF von Willebrand factor IAGP HPO MIM:193400 MIM:277480 NCBI chr12:5,948,877...6,124,670
Ensembl chr12:5,948,877...6,124,770 		JBrowse link
Impaired ristocetin-induced platelet aggregation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EPHB2 EPH receptor B2 IAGP HPO MIM:618462 NCBI chr 1:22,710,838...22,921,500
Ensembl chr 1:22,710,839...22,921,500 		JBrowse link
G GP1BA glycoprotein Ib platelet subunit alpha IAGP ClinVar Annotator: match by term: Impaired ristocetin-induced platelet aggregation ClinVar
HPO		 PMID:8384898 PMID:25741868 PMID:31064749 PMID:34355501 MIM:153670 MIM:231200 ORPHA:274 NCBI chr17:4,932,277...4,935,023
Ensembl chr17:4,932,277...4,935,023 		JBrowse link
G GP1BB glycoprotein Ib platelet subunit beta IAGP HPO MIM:231200 ORPHA:274 NCBI chr22:19,723,539...19,724,771
Ensembl chr22:19,723,539...19,724,771 		JBrowse link
G GP6 glycoprotein VI platelet IAGP HPO MIM:614201 NCBI chr19:55,013,705...55,038,264
Ensembl chr19:55,013,705...55,038,264 		JBrowse link
G GP9 glycoprotein IX platelet IAGP HPO MIM:231200 ORPHA:274 NCBI chr 3:129,054,845...129,062,406
Ensembl chr 3:129,060,779...129,062,406 		JBrowse link
G IKZF5 IKAROS family zinc finger 5 IAGP HPO MIM:619130 NCBI chr10:122,990,806...123,008,795
Ensembl chr10:122,990,807...123,008,812 		JBrowse link
G ITGA2B integrin subunit alpha 2b IAGP HPO MIM:273800 ORPHA:849 NCBI chr17:44,372,181...44,389,649
Ensembl chr17:44,372,180...44,389,649 		JBrowse link
G ITGB3 integrin subunit beta 3 IAGP HPO MIM:619267 MIM:619271 ORPHA:849 NCBI chr17:47,253,827...47,313,743
Ensembl chr17:47,253,827...47,313,743 		JBrowse link
G VWF von Willebrand factor IAGP DNA:deletion:cds: RGD PMID:8839848 RGD:11079202 NCBI chr12:5,948,877...6,124,670
Ensembl chr12:5,948,877...6,124,770 		JBrowse link
Impaired thrombin-induced platelet aggregation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ITGA2B integrin subunit alpha 2b IAGP HPO ORPHA:849 NCBI chr17:44,372,181...44,389,649
Ensembl chr17:44,372,180...44,389,649 		JBrowse link
G ITGB3 integrin subunit beta 3 IAGP HPO ORPHA:849 NCBI chr17:47,253,827...47,313,743
Ensembl chr17:47,253,827...47,313,743 		JBrowse link
G NBEAL2 neurobeachin like 2 IAGP HPO MIM:139090 NCBI chr 3:46,979,666...47,009,701
Ensembl chr 3:46,979,666...47,009,704 		JBrowse link
Impaired thromboxane A2 agonist-induced platelet aggregation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ITGA2B integrin subunit alpha 2b IAGP HPO ORPHA:849 NCBI chr17:44,372,181...44,389,649
Ensembl chr17:44,372,180...44,389,649 		JBrowse link
G ITGB3 integrin subunit beta 3 IAGP HPO ORPHA:849 NCBI chr17:47,253,827...47,313,743
Ensembl chr17:47,253,827...47,313,743 		JBrowse link
G TBXA2R thromboxane A2 receptor IAGP ClinVar Annotator: match by term: Impaired thromboxane A2 agonist-induced platelet aggregation ClinVar
HPO		 PMID:25741868 PMID:28492532 PMID:31064749 MIM:614009 NCBI chr19:3,594,507...3,606,875
Ensembl chr19:3,594,507...3,606,875 		JBrowse link
Increased mean platelet volume term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTB actin beta IAGP HPO MIM:620475 NCBI chr 7:5,527,148...5,530,601
Ensembl chr 7:5,526,409...5,563,902 		JBrowse link
G ACTN1 actinin alpha 1 IAGP HPO MIM:615193 NCBI chr14:68,874,128...68,979,302
Ensembl chr14:68,874,123...68,979,440 		JBrowse link
G CDC42 cell division cycle 42 IAGP HPO MIM:616737 ORPHA:487796 NCBI chr 1:22,052,709...22,101,360
Ensembl chr 1:22,052,627...22,101,360 		JBrowse link
G DIAPH1 diaphanous related formin 1 IAGP HPO ORPHA:494444 NCBI chr 5:141,515,021...141,619,000
Ensembl chr 5:141,515,016...141,619,055 		JBrowse link
G EFCAB13-DT EFCAB13 divergent transcript IAGP ClinVar Annotator: match by term: Increased mean platelet volume ClinVar PMID:32581362 NCBI chr17:47,303,443...47,323,901
Ensembl chr17:47,279,525...47,492,672 		JBrowse link
G FLI1 Fli-1 proto-oncogene, ETS transcription factor IAGP HPO MIM:617443 NCBI chr11:128,685,351...128,813,267
Ensembl chr11:128,686,535...128,813,267 		JBrowse link
G FLNA filamin A IAGP HPO MIM:300048 NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634 		JBrowse link
G GATA1 GATA binding protein 1 IAGP HPO MIM:314050 NCBI chr  X:48,786,590...48,794,311
Ensembl chr  X:48,786,540...48,794,311 		JBrowse link
G GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase IAGP HPO MIM:620757 NCBI chr 9:36,214,441...36,276,978
Ensembl chr 9:36,214,441...36,277,042 		JBrowse link
G GP1BA glycoprotein Ib platelet subunit alpha IAGP HPO MIM:153670 NCBI chr17:4,932,277...4,935,023
Ensembl chr17:4,932,277...4,935,023 		JBrowse link
G GP1BB glycoprotein Ib platelet subunit beta IAGP ClinVar Annotator: match by term: Increased mean platelet volume ClinVar PMID:10887115 PMID:25741868 PMID:31064749 PMID:32581362 PMID:34355501 NCBI chr22:19,723,539...19,724,771
Ensembl chr22:19,723,539...19,724,771 		JBrowse link
G ITGB3 integrin subunit beta 3 IAGP ClinVar Annotator: match by term: Increased mean platelet volume ClinVar
HPO		 PMID:32581362 MIM:619271 NCBI chr17:47,253,827...47,313,743
Ensembl chr17:47,253,827...47,313,743 		JBrowse link
G MYH9 myosin heavy chain 9 IAGP ClinVar Annotator: match by term: Large platelets ClinVar
HPO		 PMID:25741868 PMID:31064749 ORPHA:182050 NCBI chr22:36,281,280...36,387,967
Ensembl chr22:36,281,280...36,388,010 		JBrowse link
G SEPTIN5 septin 5 IAGP ClinVar Annotator: match by term: Increased mean platelet volume ClinVar PMID:10887115 PMID:25741868 PMID:31064749 PMID:32581362 PMID:34355501 NCBI chr22:19,717,220...19,724,774
Ensembl chr22:19,717,220...19,724,772
Ensembl chr22:19,717,220...19,724,772 		JBrowse link
G SKIC2 SKI2 subunit of superkiller complex IAGP HPO ORPHA:84064 NCBI chr 6:31,959,175...31,969,751
Ensembl chr 6:31,959,116...31,969,818 		JBrowse link
G SKIC3 SKI3 subunit of superkiller complex IAGP HPO MIM:222470 ORPHA:84064 NCBI chr 5:95,463,894...95,554,977
Ensembl chr 5:95,461,755...95,555,050 		JBrowse link
G TPM4 tropomyosin 4 IAGP HPO MIM:620486 NCBI chr19:16,067,538...16,103,002
Ensembl chr19:16,067,021...16,103,005 		JBrowse link
Intermittent thrombocytopenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G G6PC3 glucose-6-phosphatase catalytic subunit 3 IAGP HPO MIM:612541 NCBI chr17:44,070,673...44,076,344
Ensembl chr17:44,070,620...44,082,151 		JBrowse link
G GP1BA glycoprotein Ib platelet subunit alpha IAGP HPO MIM:177820 NCBI chr17:4,932,277...4,935,023
Ensembl chr17:4,932,277...4,935,023 		JBrowse link
G IDS iduronate 2-sulfatase IAGP ClinVar Annotator: match by term: Intermittent thrombocytopenia ClinVar PMID:25741868 PMID:28492532 PMID:30755392 PMID:34670126 NCBI chr  X:149,476,988...149,505,306
Ensembl chr  X:149,476,988...149,521,096 		JBrowse link
G TFRC transferrin receptor IAGP HPO MIM:616740 NCBI chr 3:196,049,284...196,082,090
Ensembl chr 3:196,012,511...196,082,153 		JBrowse link
G WAS WASP actin nucleation promoting factor IAGP HPO MIM:313900 NCBI chr  X:48,676,636...48,691,427
Ensembl chr  X:48,676,596...48,691,431 		JBrowse link
G WDR1 WD repeat domain 1 IAGP HPO MIM:150550 NCBI chr 4:10,074,339...10,116,799
Ensembl chr 4:10,068,089...10,116,972 		JBrowse link
Macrothrombocytopenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTN1 actinin alpha 1 IAGP ClinVar Annotator: match by term: Macrothrombocytopenia
ClinVar Annotator: match by term: Macrothrombozytopenia		 ClinVar PMID:23434115 PMID:24069336 PMID:25361813 PMID:25741868 PMID:25949529 More... NCBI chr14:68,874,128...68,979,302
Ensembl chr14:68,874,123...68,979,440 		JBrowse link
G DIAPH1 diaphanous related formin 1 IAGP HPO MIM:124900 NCBI chr 5:141,515,021...141,619,000
Ensembl chr 5:141,515,016...141,619,055 		JBrowse link
G FLNA filamin A IAGP ClinVar Annotator: match by term: Macrothrombozytopenia
ClinVar Annotator: match by term: Macrothrombocytopenia		 ClinVar PMID:21960593 PMID:25741868 PMID:28492532 PMID:31064749 NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634 		JBrowse link
G GATA1 GATA binding protein 1 IAGP ClinVar Annotator: match by term: Macrothrombocytopenia ClinVar
HPO		 PMID:25741868 PMID:31064749 ORPHA:67044 NCBI chr  X:48,786,590...48,794,311
Ensembl chr  X:48,786,540...48,794,311 		JBrowse link
G GFI1B growth factor independent 1B transcriptional repressor IAGP DNA:nonsense mutation:c.859C>T, p.Gln287X(human) HPO
RGD		 PMID:24325358 MIM:187900, RGD:11040508 NCBI chr 9:132,945,531...132,993,434
Ensembl chr 9:132,944,000...132,991,687 		JBrowse link
G GP1BA glycoprotein Ib platelet subunit alpha IAGP ClinVar Annotator: match by term: Macrothrombocytopenia ClinVar
HPO		 PMID:1730088 PMID:25741868 PMID:29082515 PMID:31064749 MIM:231200 ORPHA:274 NCBI chr17:4,932,277...4,935,023
Ensembl chr17:4,932,277...4,935,023 		JBrowse link
G GP1BB glycoprotein Ib platelet subunit beta IAGP DNA:missense mutation:exon:c.281A>G(p.D94G)(human)
ClinVar Annotator: match by term: Macrothrombocytopenia		 HPO
ClinVar
RGD		 PMID:25741868 PMID:31064749 PMID:32581362 PMID:28131619 MIM:231200 ORPHA:274, RGD:13464128 NCBI chr22:19,723,539...19,724,771
Ensembl chr22:19,723,539...19,724,771 		JBrowse link
G GP9 glycoprotein IX platelet IAGP DNA:missense mutation:cds:c.182A>G(p.N61S)(human)
ClinVar Annotator: match by term: Macrothrombocytopenia		 HPO
ClinVar
RGD		 PMID:8049428 PMID:8481514 PMID:9163595 PMID:9432024 PMID:14510954 More... MIM:231200 ORPHA:274, RGD:13464128 NCBI chr 3:129,054,845...129,062,406
Ensembl chr 3:129,060,779...129,062,406 		JBrowse link
G ITGA2B integrin subunit alpha 2b IAGP ClinVar Annotator: match by term: Macrothrombocytopenia ClinVar
HPO		 PMID:21917754 PMID:25728920 PMID:25741868 PMID:28492532 PMID:31064749 MIM:187800 NCBI chr17:44,372,181...44,389,649
Ensembl chr17:44,372,180...44,389,649 		JBrowse link
G ITGB3 integrin subunit beta 3 IAGP ClinVar Annotator: match by term: Macrothrombocytopenia ClinVar PMID:25741868 PMID:31064749 NCBI chr17:47,253,827...47,313,743
Ensembl chr17:47,253,827...47,313,743 		JBrowse link
G LOC107988032 Xq28 proximal FLNA-EMD recombination region IAGP ClinVar Annotator: match by term: Macrothrombocytopenia ClinVar NCBI chr  X:154,335,912...154,349,572 JBrowse link
G LOC126863137 CDK7 strongly-dependent group 2 enhancer GRCh37_chr22:36696002-36697201 IAGP ClinVar Annotator: match by term: Macrothrombocytopenia ClinVar NCBI chr22:36,299,956...36,301,155 JBrowse link
G MYH9 myosin heavy chain 9 IAGP ClinVar Annotator: match by term: Macrothrombocytopenia ClinVar
HPO		 PMID:25741868 PMID:28492532 PMID:29090586 PMID:31064749 PMID:34355501 MIM:155100 NCBI chr22:36,281,280...36,387,967
Ensembl chr22:36,281,280...36,388,010 		JBrowse link
G PRKACG protein kinase cAMP-activated catalytic subunit gamma IAGP HPO MIM:616176 NCBI chr 9:69,012,504...69,014,113
Ensembl chr 9:69,012,504...69,014,113 		JBrowse link
G SEPTIN5 septin 5 IAGP ClinVar Annotator: match by term: Macrothrombocytopenia ClinVar PMID:10887115 PMID:25741868 PMID:31064749 PMID:32581362 PMID:34355501 NCBI chr22:19,717,220...19,724,774
Ensembl chr22:19,717,220...19,724,772
Ensembl chr22:19,717,220...19,724,772 		JBrowse link
G SEPTIN5 septin 5 IAGP ClinVar Annotator: match by term: Macrothrombocytopenia ClinVar PMID:25741868 PMID:31064749 NCBI chr22:19,714,503...19,723,319
Ensembl chr22:19,714,503...19,724,224 		JBrowse link
G SLC35A1 solute carrier family 35 member A1 IAGP HPO MIM:603585 NCBI chr 6:87,472,974...87,512,336
Ensembl chr 6:87,470,623...87,512,336 		JBrowse link
G THPO thrombopoietin IAGP ClinVar Annotator: match by term: Macrothrombocytopenia ClinVar PMID:25741868 PMID:31064749 PMID:32150607 NCBI chr 3:184,371,935...184,379,688
Ensembl chr 3:184,371,935...184,381,968 		JBrowse link
G TPM4 tropomyosin 4 IAGP HPO MIM:620486 NCBI chr19:16,067,538...16,103,002
Ensembl chr19:16,067,021...16,103,005 		JBrowse link
G TUBA8 tubulin alpha 8 IAGP HPO MIM:619840 NCBI chr22:18,110,809...18,131,732
Ensembl chr22:18,110,100...18,146,683 		JBrowse link
G TUBB1 tubulin beta 1 class VI IAGP ClinVar Annotator: match by term: Macrothrombocytopenia ClinVar
HPO		 PMID:18849486 PMID:24777453 PMID:25741868 PMID:27346686 PMID:28054583 More... MIM:613112 NCBI chr20:59,016,438...59,026,654
Ensembl chr20:59,019,429...59,026,654 		JBrowse link
Neonatal alloimmune thrombocytopenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAR adenosine deaminase RNA specific IAGP HPO ORPHA:51 NCBI chr 1:154,582,057...154,627,997
Ensembl chr 1:154,581,695...154,628,013 		JBrowse link
G CD109 CD109 molecule IAGP HPO ORPHA:853 NCBI chr 6:73,679,192...73,828,313
Ensembl chr 6:73,695,785...73,828,316 		JBrowse link
G GP1BA glycoprotein Ib platelet subunit alpha IAGP HPO ORPHA:853 NCBI chr17:4,932,277...4,935,023
Ensembl chr17:4,932,277...4,935,023 		JBrowse link
G GP1BB glycoprotein Ib platelet subunit beta IAGP HPO ORPHA:853 NCBI chr22:19,723,539...19,724,771
Ensembl chr22:19,723,539...19,724,771 		JBrowse link
G IFIH1 interferon induced with helicase C domain 1 IAGP HPO ORPHA:51 NCBI chr 2:162,267,074...162,318,684
Ensembl chr 2:162,267,074...162,318,684 		JBrowse link
G ITGA2 integrin subunit alpha 2 IAGP HPO ORPHA:853 NCBI chr 5:52,989,352...53,094,779
Ensembl chr 5:52,989,340...53,094,779 		JBrowse link
G ITGA2B integrin subunit alpha 2b IAGP HPO ORPHA:853 NCBI chr17:44,372,181...44,389,649
Ensembl chr17:44,372,180...44,389,649 		JBrowse link
G ITGB3 integrin subunit beta 3 IAGP HPO ORPHA:853 NCBI chr17:47,253,827...47,313,743
Ensembl chr17:47,253,827...47,313,743 		JBrowse link
G LSM11 LSM11, U7 small nuclear RNA associated IAGP HPO ORPHA:51 NCBI chr 5:157,743,712...157,760,709
Ensembl chr 5:157,743,712...157,760,709 		JBrowse link
G RNASEH2A ribonuclease H2 subunit A IAGP HPO ORPHA:51 NCBI chr19:12,806,584...12,813,640
Ensembl chr19:12,806,584...12,813,640 		JBrowse link
G RNASEH2B ribonuclease H2 subunit B IAGP HPO ORPHA:51 NCBI chr13:50,909,678...50,970,460
Ensembl chr13:50,909,747...51,024,120 		JBrowse link
G RNASEH2C ribonuclease H2 subunit C IAGP HPO ORPHA:51 NCBI chr11:65,717,673...65,720,798
Ensembl chr11:65,714,005...65,720,818 		JBrowse link
G RNU7-1 RNA, U7 small nuclear 1 IAGP HPO ORPHA:51 NCBI chr12:6,943,816...6,943,878
Ensembl chr12:6,943,816...6,943,878 		JBrowse link
G SAMHD1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 IAGP HPO ORPHA:51 NCBI chr20:36,889,773...36,951,708
Ensembl chr20:36,890,229...36,951,893 		JBrowse link
G TREX1 three prime repair exonuclease 1 IAGP HPO ORPHA:51 NCBI chr 3:48,465,830...48,467,645
Ensembl chr 3:48,465,811...48,467,645 		JBrowse link
Platelet anisocytosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTB actin beta IAGP HPO MIM:620475 NCBI chr 7:5,527,148...5,530,601
Ensembl chr 7:5,526,409...5,563,902 		JBrowse link
G ACTN1 actinin alpha 1 IAGP HPO MIM:615193 NCBI chr14:68,874,128...68,979,302
Ensembl chr14:68,874,123...68,979,440 		JBrowse link
G ITGA2B integrin subunit alpha 2b IAGP HPO MIM:187800 NCBI chr17:44,372,181...44,389,649
Ensembl chr17:44,372,180...44,389,649 		JBrowse link
G ITGB3 integrin subunit beta 3 IAGP HPO MIM:619271 NCBI chr17:47,253,827...47,313,743
Ensembl chr17:47,253,827...47,313,743 		JBrowse link
Reduced platelet alpha granules term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GATA1 GATA binding protein 1 IAGP HPO MIM:314050 NCBI chr  X:48,786,590...48,794,311
Ensembl chr  X:48,786,540...48,794,311 		JBrowse link
G IKZF5 IKAROS family zinc finger 5 IAGP HPO MIM:619130 NCBI chr10:122,990,806...123,008,795
Ensembl chr10:122,990,807...123,008,812 		JBrowse link
Reduced platelet dense granules term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BLOC1S5 biogenesis of lysosomal organelles complex 1 subunit 5 IAGP HPO MIM:619172 NCBI chr 6:8,013,567...8,064,414
Ensembl chr 6:8,013,567...8,064,396 		JBrowse link
G IKZF5 IKAROS family zinc finger 5 IAGP HPO MIM:619130 NCBI chr10:122,990,806...123,008,795
Ensembl chr10:122,990,807...123,008,812 		JBrowse link
Thrombocytopenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA1 ATP binding cassette subfamily A member 1 IAGP HPO ORPHA:31150 NCBI chr 9:104,781,006...104,928,155
Ensembl chr 9:104,781,006...104,928,155 		JBrowse link
G ABCD4 ATP binding cassette subfamily D member 4 IAGP HPO MIM:614857 NCBI chr14:74,285,269...74,302,934
Ensembl chr14:74,285,269...74,303,055 		JBrowse link
G ABCG5 ATP binding cassette subfamily G member 5 IAGP ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:24503134 PMID:25741868 PMID:28492532 PMID:31064749 PMID:32088153 More... NCBI chr 2:43,806,211...43,839,231
Ensembl chr 2:43,812,472...43,838,865 		JBrowse link
G ABCG8 ATP binding cassette subfamily G member 8 IAGP ClinVar Annotator: match by term: Thrombocytopenia HPO
ClinVar		 PMID:25741868 PMID:28492532 PMID:32935436 MIM:210250 NCBI chr 2:43,838,971...43,882,988
Ensembl chr 2:43,831,942...43,882,988 		JBrowse link
G ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase IAGP HPO ORPHA:521 NCBI chr 9:130,713,043...130,887,675
Ensembl chr 9:130,713,043...130,887,675 		JBrowse link
G ACAD9 acyl-CoA dehydrogenase family member 9 IAGP HPO MIM:611126 ORPHA:99901 NCBI chr 3:128,879,620...128,913,114
Ensembl chr 3:128,879,596...128,924,003 		JBrowse link
G ACBD5 acyl-CoA binding domain containing 5 IAGP ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:25741868 PMID:28492532 NCBI chr10:27,182,838...27,242,111
Ensembl chr10:27,168,135...27,243,046 		JBrowse link
G ACD ACD shelterin complex subunit and telomerase recruitment factor IAGP HPO ORPHA:3322 NCBI chr16:67,657,512...67,660,260
Ensembl chr16:67,657,512...67,660,810 		JBrowse link
G ACTB actin beta IAGP ClinVar Annotator: match by term: Thrombocytopenia ClinVar
HPO		 PMID:10411937 PMID:25255767 PMID:25741868 PMID:30315159 MIM:620475 NCBI chr 7:5,527,148...5,530,601
Ensembl chr 7:5,526,409...5,563,902 		JBrowse link
G ACTN1 actinin alpha 1 IAGP ClinVar Annotator: match by term: Thrombocytopenia ClinVar
HPO		 PMID:23434115 PMID:24069336 PMID:25361813 PMID:25741868 PMID:28492532 More... MIM:615193 NCBI chr14:68,874,128...68,979,302
Ensembl chr14:68,874,123...68,979,440 		JBrowse link
G ACVRL1 activin A receptor like type 1 IAGP ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:20501893 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr12:51,906,944...51,923,361
Ensembl chr12:51,906,908...51,923,361 		JBrowse link
G ADA2 adenosine deaminase 2 IAGP HPO ORPHA:124 NCBI chr22:17,178,790...17,221,848
Ensembl chr22:17,178,790...17,258,235 		JBrowse link
G ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif 13 IAGP HPO MIM:274150 NCBI chr 9:133,414,337...133,459,386
Ensembl chr 9:133,414,358...133,459,402 		JBrowse link
G ADAR adenosine deaminase RNA specific IAGP HPO MIM:615010 NCBI chr 1:154,582,057...154,627,997
Ensembl chr 1:154,581,695...154,628,013 		JBrowse link
G ADH5 alcohol dehydrogenase 5 (class III), chi polypeptide IAGP HPO MIM:619151 NCBI chr 4:99,070,978...99,088,788
Ensembl chr 4:99,070,978...99,088,801 		JBrowse link
G AFG2A AFG2 AAA ATPase homolog A IAGP HPO MIM:616577 ORPHA:457351 NCBI chr 4:122,923,078...123,319,433
Ensembl chr 4:122,923,070...123,319,433 		JBrowse link
G AGK acylglycerol kinase IAGP HPO MIM:212350 NCBI chr 7:141,551,410...141,655,244
Ensembl chr 7:141,551,278...141,655,244 		JBrowse link
G ALG12 ALG12 alpha-1,6-mannosyltransferase IAGP HPO ORPHA:79324 NCBI chr22:49,859,311...49,918,438
Ensembl chr22:49,900,229...49,918,438 		JBrowse link
G ALG8 ALG8 alpha-1,3-glucosyltransferase IAGP HPO MIM:608104 ORPHA:79325 NCBI chr11:78,100,946...78,139,626
Ensembl chr11:78,095,244...78,139,660 		JBrowse link
G ALK ALK receptor tyrosine kinase IAGP HPO ORPHA:635 NCBI chr 2:29,192,774...29,921,586
Ensembl chr 2:29,192,774...29,921,586 		JBrowse link
G AMN amnion associated transmembrane protein IAGP HPO ORPHA:35858 NCBI chr14:102,922,663...102,930,842
Ensembl chr14:102,922,663...102,933,596 		JBrowse link
G ANKRD11 ankyrin repeat domain containing 11 IAGP HPO ORPHA:261250 NCBI chr16:89,267,630...89,490,561
Ensembl chr16:89,267,619...89,490,561 		JBrowse link
G ANKRD26 ankyrin repeat domain containing 26 IAGP ClinVar Annotator: match by term: Thrombocytopenia ClinVar
HPO		 PMID:10521306 PMID:20626622 PMID:21211618 PMID:21467542 PMID:22672365 More... MIM:188000 NCBI chr10:26,947,582...27,100,494
Ensembl chr10:26,973,793...27,100,494 		JBrowse link
G AP3B1 adaptor related protein complex 3 subunit beta 1 IAGP ClinVar Annotator: match by term: Thrombocytopenia ClinVar
HPO		 PMID:25741868 PMID:28492532 PMID:32935436 MIM:608233 NCBI chr 5:78,000,522...78,294,698
Ensembl chr 5:77,991,640...78,294,762 		JBrowse link
G AP3D1 adaptor related protein complex 3 subunit delta 1 IAGP ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:25741868 PMID:28492532 PMID:32935436 PMID:36430862 NCBI chr19:2,100,988...2,164,616
Ensembl chr19:2,100,988...2,164,468 		JBrowse link
G APOE apolipoprotein E IAGP HPO MIM:269600 ORPHA:158029 NCBI chr19:44,905,796...44,909,393
Ensembl chr19:44,905,791...44,909,393 		JBrowse link
G ARHGAP31 Rho GTPase activating protein 31 IAGP HPO ORPHA:974 NCBI chr 3:119,294,383...119,420,714
Ensembl chr 3:119,294,383...119,420,714 		JBrowse link
G ARPC1B actin related protein 2/3 complex subunit 1B IAGP ClinVar Annotator: match by term: Thrombocytopenia ClinVar
HPO		 PMID:25741868 PMID:28492532 MIM:617718 NCBI chr 7:99,374,259...99,394,816
Ensembl chr 7:99,374,249...99,394,816 		JBrowse link
G ARVCF ARVCF delta catenin family member IAGP HPO ORPHA:567 NCBI chr22:19,965,134...20,016,823
Ensembl chr22:19,969,896...20,016,823 		JBrowse link
G ASAH1 N-acylsphingosine amidohydrolase 1 IAGP HPO ORPHA:333 NCBI chr 8:18,055,992...18,084,961
Ensembl chr 8:18,055,992...18,084,998 		JBrowse link
G ASXL1 ASXL transcriptional regulator 1 IAGP HPO ORPHA:98849 ORPHA:98850 NCBI chr20:32,358,331...32,439,319
Ensembl chr20:32,358,330...32,439,319 		JBrowse link
G ATP6AP1 ATPase H+ transporting accessory protein 1 IAGP HPO MIM:300972 NCBI chr  X:154,428,677...154,436,516
Ensembl chr  X:154,428,633...154,436,516 		JBrowse link
G ATP7B ATPase copper transporting beta IAGP HPO MIM:277900 ORPHA:905 NCBI chr13:51,932,669...52,012,132
Ensembl chr13:51,930,436...52,012,125 		JBrowse link
G ATRX ATRX chromatin remodeler IAGP HPO ORPHA:231401 NCBI chr  X:77,504,880...77,786,216
Ensembl chr  X:77,504,880...77,786,233 		JBrowse link
G BANK1 B cell scaffold protein with ankyrin repeats 1 IAGP HPO ORPHA:536 NCBI chr 4:101,790,730...102,074,812
Ensembl chr 4:101,411,286...102,074,812 		JBrowse link
G BCOR BCL6 corepressor IAGP HPO ORPHA:520 NCBI chr  X:40,051,246...40,177,329
Ensembl chr  X:40,049,815...40,177,329 		JBrowse link
G BCR BCR activator of RhoGEF and GTPase IAGP HPO ORPHA:521 NCBI chr22:23,180,509...23,318,037
Ensembl chr22:23,179,704...23,318,037 		JBrowse link
G BLK BLK proto-oncogene, Src family tyrosine kinase IAGP HPO ORPHA:536 NCBI chr 8:11,494,387...11,564,599
Ensembl chr 8:11,486,894...11,564,599 		JBrowse link
G BLOC1S6 biogenesis of lysosomal organelles complex 1 subunit 6 IAGP HPO MIM:614171 NCBI chr15:45,587,123...45,609,716
Ensembl chr15:45,587,214...45,615,945 		JBrowse link
G BRCA1 BRCA1 DNA repair associated IAGP HPO ORPHA:84 NCBI chr17:43,044,295...43,170,327
Ensembl chr17:43,044,295...43,170,245 		JBrowse link
G BRCA2 BRCA2 DNA repair associated IAGP HPO ORPHA:84 NCBI chr13:32,315,077...32,400,268
Ensembl chr13:32,315,086...32,400,268 		JBrowse link
G BRIP1 BRCA1 interacting DNA helicase 1 IAGP HPO ORPHA:84 NCBI chr17:61,679,139...61,863,528
Ensembl chr17:61,679,139...61,863,559 		JBrowse link
G BTK Bruton tyrosine kinase IAGP HPO ORPHA:47 NCBI chr  X:101,349,450...101,390,796
Ensembl chr  X:101,349,338...101,390,796 		JBrowse link
G BTNL2 butyrophilin like 2 IAGP HPO ORPHA:797 NCBI chr 6:32,393,339...32,407,181
Ensembl chr 6:32,393,339...32,407,181 		JBrowse link
G C1GALT1C1 C1GALT1 specific chaperone 1 IAGP HPO MIM:301110 NCBI chr  X:120,625,674...120,630,054
Ensembl chr  X:120,625,674...120,630,054 		JBrowse link
G C3 complement C3 IAGP HPO MIM:612925 NCBI chr19:6,677,704...6,720,650
Ensembl chr19:6,677,704...6,730,562 		JBrowse link
G C4A complement C4A (Chido/Rodgers blood group) IAGP HPO ORPHA:536 NCBI chr 6:31,982,057...32,002,681
Ensembl chr 6:31,982,057...32,002,681 		JBrowse link
G C4B complement C4B (Chido/Rodgers blood group) IAGP HPO ORPHA:536 NCBI chr 6:32,014,795...32,035,418
Ensembl chr 6:32,014,795...32,035,418 		JBrowse link
G CA2 carbonic anhydrase 2 IAGP HPO ORPHA:2785 NCBI chr 8:85,464,007...85,481,493
Ensembl chr 8:85,463,968...85,481,493 		JBrowse link
G CALR calreticulin IAGP HPO ORPHA:824 NCBI chr19:12,938,609...12,944,489
Ensembl chr19:12,938,578...12,944,489 		JBrowse link
G CASP10 caspase 10 IAGP HPO MIM:603909 NCBI chr 2:201,183,141...201,229,406
Ensembl chr 2:201,182,872...201,229,428 		JBrowse link
G CBL Cbl proto-oncogene IAGP HPO ORPHA:98850 NCBI chr11:119,206,339...119,308,149
Ensembl chr11:119,206,298...119,313,926 		JBrowse link
G CBR1 carbonyl reductase 1 IAGP ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:32581362 NCBI chr21:36,070,024...36,073,164
Ensembl chr21:36,069,941...36,073,166 		JBrowse link
G CD36 CD36 molecule (CD36 blood group) IAGP HPO MIM:608404 NCBI chr 7:80,602,207...80,679,274
Ensembl chr 7:80,369,575...80,679,277 		JBrowse link
G CD40LG CD40 ligand IAGP HPO MIM:308230 NCBI chr  X:136,648,158...136,660,390
Ensembl chr  X:136,648,158...136,660,390 		JBrowse link
G CD46 CD46 molecule IAGP HPO MIM:612922 ORPHA:244242 NCBI chr 1:207,752,038...207,795,516
Ensembl chr 1:207,752,037...207,795,513 		JBrowse link
G CDC40 cell division cycle 40 IAGP HPO MIM:619302 NCBI chr 6:110,180,427...110,232,232
Ensembl chr 6:110,180,141...110,254,275 		JBrowse link
G CDC42 cell division cycle 42 IAGP HPO MIM:616737 ORPHA:487796 NCBI chr 1:22,052,709...22,101,360
Ensembl chr 1:22,052,627...22,101,360 		JBrowse link
G CFB complement factor B IAGP HPO MIM:612924 NCBI chr 6:31,946,095...31,952,084
Ensembl chr 6:31,945,650...31,952,086 		JBrowse link
G CFH complement factor H IAGP HPO MIM:235400 ORPHA:244242 NCBI chr 1:196,652,043...196,747,504
Ensembl chr 1:196,651,754...196,752,476 		JBrowse link
G CFHR1 complement factor H related 1 IAGP HPO MIM:235400 NCBI chr 1:196,819,731...196,832,189
Ensembl chr 1:196,819,731...196,837,159 		JBrowse link
G CFHR3 complement factor H related 3 IAGP HPO MIM:235400 NCBI chr 1:196,774,840...196,795,407
Ensembl chr 1:196,774,813...196,795,407 		JBrowse link
G CFI complement factor I IAGP HPO MIM:612923 ORPHA:244242 NCBI chr 4:109,730,982...109,801,999
Ensembl chr 4:109,731,008...109,802,150 		JBrowse link
G CHEK2 checkpoint kinase 2 IAGP ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:10617473 PMID:11053450 PMID:11479205 PMID:11719428 PMID:11967536 More... NCBI chr22:28,687,743...28,741,834
Ensembl chr22:28,687,743...28,742,422 		JBrowse link
G CIITA class II major histocompatibility complex transactivator IAGP ClinVar Annotator: match by term: Low platelet count ClinVar PMID:25741868 PMID:28492532 NCBI chr16:10,866,206...10,943,021
Ensembl chr16:10,866,222...10,943,021 		JBrowse link
G CLCN7 chloride voltage-gated channel 7 IAGP HPO MIM:611490 ORPHA:210110 ORPHA:53 NCBI chr16:1,444,935...1,475,028
Ensembl chr16:1,444,934...1,475,077 		JBrowse link
G CLIC6 chloride intracellular channel 6 IAGP ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:32581362 NCBI chr21:34,668,994...34,718,223
Ensembl chr21:34,668,994...34,718,227 		JBrowse link
G CLPB ClpB family mitochondrial disaggregase IAGP HPO MIM:616271 NCBI chr11:72,285,495...72,434,531
Ensembl chr11:72,285,495...72,434,680 		JBrowse link
G COG1 component of oligomeric golgi complex 1 IAGP HPO MIM:611209 NCBI chr17:73,193,055...73,208,507
Ensembl chr17:73,193,055...73,208,507 		JBrowse link
G COG4 component of oligomeric golgi complex 4 IAGP HPO ORPHA:263501 NCBI chr16:70,480,567...70,523,554
Ensembl chr16:70,480,568...70,523,560 		JBrowse link
G COG6 component of oligomeric golgi complex 6 IAGP HPO MIM:614576 NCBI chr13:39,655,627...39,791,666
Ensembl chr13:39,655,627...39,791,666 		JBrowse link
G COL4A4 collagen type IV alpha 4 chain IAGP ClinVar Annotator: match by term: Low platelet count ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 2:226,967,360...227,164,488
Ensembl chr 2:227,002,714...227,164,453 		JBrowse link
G COL4A5 collagen type IV alpha 5 chain IAGP HPO MIM:301050 NCBI chr  X:108,439,838...108,697,545
Ensembl chr  X:108,439,838...108,697,545 		JBrowse link
G COL5A1 collagen type V alpha 1 chain IAGP ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:28492532 PMID:29924831 NCBI chr 9:134,641,803...134,844,843
Ensembl chr 9:134,641,803...134,844,843 		JBrowse link
G COL5A2 collagen type V alpha 2 chain IAGP ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:189,031,898...189,441,111
Ensembl chr 2:189,031,898...189,225,312 		JBrowse link
G COMT catechol-O-methyltransferase IAGP HPO ORPHA:567 NCBI chr22:19,941,772...19,969,975
Ensembl chr22:19,941,371...19,969,975 		JBrowse link
G CORIN corin, serine peptidase IAGP HPO ORPHA:275555 NCBI chr 4:47,594,001...47,838,067
Ensembl chr 4:47,593,999...47,838,106 		JBrowse link
G CR2 complement C3d receptor 2 IAGP HPO ORPHA:536 NCBI chr 1:207,454,328...207,489,892
Ensembl chr 1:207,453,024...207,489,895 		JBrowse link
G CRELD1 cysteine rich with EGF like domains 1 IAGP HPO MIM:620771 NCBI chr 3:9,933,834...9,945,406
Ensembl chr 3:9,933,793...9,945,413 		JBrowse link
G CTC1 CST telomere replication complex component 1 IAGP HPO MIM:612199 ORPHA:1775 NCBI chr17:8,224,815...8,248,056
Ensembl chr17:8,224,815...8,248,058 		JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 IAGP HPO MIM:152700 ORPHA:536 NCBI chr 2:203,867,771...203,873,965
Ensembl chr 2:203,853,888...203,873,965 		JBrowse link
G CUBN cubilin IAGP HPO ORPHA:35858 NCBI chr10:16,823,966...17,129,811
Ensembl chr10:16,823,966...17,129,811 		JBrowse link
G CYCS cytochrome c, somatic IAGP ClinVar Annotator: match by term: Thrombocytopenia ClinVar
HPO		 PMID:18345000 PMID:22102269 PMID:24326104 PMID:25741868 PMID:28492532 More... MIM:612004 NCBI chr 7:25,118,656...25,125,260
Ensembl chr 7:25,118,656...25,125,260 		JBrowse link
G DCLRE1C DNA cross-link repair 1C IAGP HPO MIM:603554 NCBI chr10:14,897,359...14,954,432
Ensembl chr10:14,897,359...14,954,432 		JBrowse link
G DEF6 DEF6 guanine nucleotide exchange factor IAGP HPO MIM:619573 NCBI chr 6:35,297,818...35,321,771
Ensembl chr 6:35,297,818...35,321,771 		JBrowse link
G DGKE diacylglycerol kinase epsilon IAGP HPO MIM:615008 NCBI chr17:56,834,151...56,869,567
Ensembl chr17:56,834,107...56,869,567 		JBrowse link
G DGUOK deoxyguanosine kinase IAGP HPO MIM:251880 NCBI chr 2:73,926,880...73,958,946
Ensembl chr 2:73,926,826...73,958,961 		JBrowse link
G DHFR dihydrofolate reductase IAGP HPO MIM:613839 NCBI chr 5:80,626,226...80,654,983
Ensembl chr 5:80,626,226...80,654,983 		JBrowse link
G DIAPH1 diaphanous related formin 1 IAGP HPO MIM:124900 ORPHA:494444 NCBI chr 5:141,515,021...141,619,000
Ensembl chr 5:141,515,016...141,619,055 		JBrowse link
G DKC1 dyskerin pseudouridine synthase 1 IAGP HPO MIM:305000 ORPHA:1775 ORPHA:3322 NCBI chr  X:154,762,864...154,777,689
Ensembl chr  X:154,762,742...154,777,689 		JBrowse link
G DLL4 delta like canonical Notch ligand 4 IAGP HPO ORPHA:974 NCBI chr15:40,929,340...40,939,073
Ensembl chr15:40,929,340...40,939,073 		JBrowse link
G DNAJC21 DnaJ heat shock protein family (Hsp40) member C21 IAGP HPO MIM:260400 MIM:617052 ORPHA:811 NCBI chr 5:34,929,559...34,958,964
Ensembl chr 5:34,929,559...34,958,964 		JBrowse link
G DNASE1 deoxyribonuclease 1 IAGP HPO MIM:152700 ORPHA:536 NCBI chr16:3,611,760...3,665,461
Ensembl chr16:3,611,728...3,680,143 		JBrowse link
G DOCK2 dedicator of cytokinesis 2 IAGP HPO MIM:616433 NCBI chr 5:169,637,275...170,083,382
Ensembl chr 5:169,637,268...170,083,382 		JBrowse link
G DOCK6 dedicator of cytokinesis 6 IAGP HPO ORPHA:974 NCBI chr19:11,199,295...11,262,524
Ensembl chr19:11,199,295...11,262,524 		JBrowse link
G DYNC2LI1 dynein cytoplasmic 2 light intermediate chain 1 IAGP ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:25741868 PMID:28492532 PMID:31064749 PMID:32088153 NCBI chr 2:43,774,039...43,828,347
Ensembl chr 2:43,774,039...43,810,010 		JBrowse link
G DZIP1L DAZ interacting zinc finger protein 1 like IAGP HPO ORPHA:731 NCBI chr 3:138,061,990...138,115,608
Ensembl chr 3:138,061,990...138,115,818 		JBrowse link
G EFCAB13-DT EFCAB13 divergent transcript IAGP ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:25741868 PMID:28492532 PMID:31064749 NCBI chr17:47,303,443...47,323,901
Ensembl chr17:47,279,525...47,492,672 		JBrowse link
G EFL1 elongation factor like GTPase 1 IAGP HPO MIM:617941 ORPHA:811 NCBI chr15:82,130,233...82,262,734
Ensembl chr15:82,130,206...82,262,773 		JBrowse link
G ELANE elastase, neutrophil expressed IAGP HPO ORPHA:2686 NCBI chr19:852,303...856,243
Ensembl chr19:851,014...856,247 		JBrowse link
G EOGT EGF domain specific O-linked N-acetylglucosamine transferase IAGP HPO ORPHA:974 NCBI chr 3:68,975,225...69,013,684
Ensembl chr 3:68,975,217...69,013,684 		JBrowse link
G EPHB2 EPH receptor B2 IAGP HPO MIM:618462 NCBI chr 1:22,710,838...22,921,500
Ensembl chr 1:22,710,839...22,921,500 		JBrowse link
G ERBB3 erb-b2 receptor tyrosine kinase 3 IAGP HPO MIM:133180 NCBI chr12:56,080,108...56,103,505
Ensembl chr12:56,076,799...56,103,505 		JBrowse link
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit treatment IAGP associated with ovary epithelial cancer;DNA:missense mutation:cds:p.D312N (rs1799793) RGD PMID:19786980 RGD:5688741 NCBI chr19:45,349,837...45,370,573
Ensembl chr19:45,349,837...45,370,918 		JBrowse link
G ERCC4 ERCC excision repair 4, endonuclease catalytic subunit IAGP HPO ORPHA:84 NCBI chr16:13,920,154...13,952,348
Ensembl chr16:13,920,138...13,952,348 		JBrowse link
G ERCC6L2 ERCC excision repair 6 like 2 IAGP HPO MIM:615715 NCBI chr 9:95,875,691...96,041,092
Ensembl chr 9:95,871,264...96,121,154 		JBrowse link
G ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2 IAGP HPO ORPHA:3103 NCBI chr 8:27,771,974...27,819,660
Ensembl chr 8:27,771,949...27,812,640 		JBrowse link
G ETS1 ETS proto-oncogene 1, transcription factor IAGP HPO ORPHA:536 NCBI chr11:128,458,765...128,587,558
Ensembl chr11:128,458,761...128,587,558 		JBrowse link
G ETV6 ETS variant transcription factor 6 IAGP ClinVar Annotator: match by term: Thrombocytopenia ClinVar
HPO		 PMID:9694803 PMID:15806161 PMID:18305557 PMID:21680795 PMID:21714648 More... MIM:616216 NCBI chr12:11,649,674...11,895,377
Ensembl chr12:11,649,674...11,895,377 		JBrowse link
G F10 coagulation factor X IAGP ClinVar Annotator: match by term: Low platelet count ClinVar NCBI chr13:113,122,799...113,149,529
Ensembl chr13:113,122,799...113,149,529 		JBrowse link
G F11 coagulation factor XI IAGP ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:2052060 PMID:2813350 PMID:9326232 PMID:10593931 PMID:15026311 More... NCBI chr 4:186,266,189...186,289,681
Ensembl chr 4:186,266,189...186,289,681 		JBrowse link
G F5 coagulation factor V IAGP ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:25741868 PMID:28492532 PMID:34355501 NCBI chr 1:169,511,951...169,586,481
Ensembl chr 1:169,511,951...169,586,588 		JBrowse link
G FANCA FA complementation group A IAGP HPO MIM:227650 ORPHA:84 NCBI chr16:89,737,549...89,816,647
Ensembl chr16:89,726,683...89,816,977 		JBrowse link
G FANCB FA complementation group B IAGP HPO MIM:300514 ORPHA:84 NCBI chr  X:14,689,524...14,873,069
Ensembl chr  X:14,690,388...14,873,255 		JBrowse link
G FANCC FA complementation group C IAGP HPO MIM:227645 ORPHA:84 NCBI chr 9:95,099,054...95,317,709
Ensembl chr 9:95,099,054...95,426,796 		JBrowse link
G FANCD2 FA complementation group D2 IAGP HPO MIM:227646 ORPHA:84 NCBI chr 3:10,026,437...10,101,932
Ensembl chr 3:10,026,370...10,101,932 		JBrowse link
G FANCE FA complementation group E IAGP HPO MIM:600901 ORPHA:84 NCBI chr 6:35,452,338...35,467,102
Ensembl chr 6:35,452,338...35,467,104 		JBrowse link
G FANCF FA complementation group F IAGP HPO MIM:603467 ORPHA:84 NCBI chr11:22,622,533...22,625,823
Ensembl chr11:22,622,533...22,625,823 		JBrowse link
G FANCG FA complementation group G IAGP HPO MIM:614082 ORPHA:84 NCBI chr 9:35,073,839...35,079,942
Ensembl chr 9:35,073,835...35,080,004 		JBrowse link
G FANCI FA complementation group I IAGP HPO MIM:609053 ORPHA:84 NCBI chr15:89,243,979...89,317,259
Ensembl chr15:89,243,945...89,317,261 		JBrowse link
G FANCL FA complementation group L IAGP HPO ORPHA:84 NCBI chr 2:58,159,243...58,241,380
Ensembl chr 2:58,159,243...58,241,410 		JBrowse link
G FANCM FA complementation group M IAGP HPO ORPHA:84 NCBI chr14:45,135,930...45,200,890
Ensembl chr14:45,135,930...45,200,890 		JBrowse link
G FARS2 phenylalanyl-tRNA synthetase 2, mitochondrial IAGP HPO MIM:614946 NCBI chr 6:5,249,934...5,771,583
Ensembl chr 6:5,261,044...5,829,192 		JBrowse link
G FCGR2A Fc gamma receptor IIa IAGP HPO MIM:152700 NCBI chr 1:161,505,457...161,524,048
Ensembl chr 1:161,505,430...161,524,013 		JBrowse link
G FCGR2B Fc gamma receptor IIb IAGP HPO MIM:152700 ORPHA:536 NCBI chr 1:161,647,243...161,678,654
Ensembl chr 1:161,663,143...161,678,654 		JBrowse link
G FCGR2C Fc gamma receptor IIc (gene/pseudogene) IAGP HPO ORPHA:3002 NCBI chr 1:161,581,339...161,601,220
Ensembl chr 1:161,581,339...161,605,662 		JBrowse link
G FCGR3B Fc gamma receptor IIIb IAGP HPO ORPHA:536 NCBI chr 1:161,623,196...161,631,963
Ensembl chr 1:161,623,196...161,631,963 		JBrowse link
G FGA fibrinogen alpha chain IAGP ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:28492532 NCBI chr 4:154,583,126...154,590,742
Ensembl chr 4:154,583,126...154,590,742 		JBrowse link
G FGB fibrinogen beta chain IAGP ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:10688828 PMID:19420351 PMID:20978265 PMID:24033266 PMID:25741868 More... NCBI chr 4:154,562,980...154,572,807
Ensembl chr 4:154,563,011...154,572,807 		JBrowse link
G FGG fibrinogen gamma chain IAGP ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:10688828 PMID:15795540 PMID:17938819 PMID:19300242 PMID:21228398 More... NCBI chr 4:154,604,136...154,612,656
Ensembl chr 4:154,604,134...154,612,967 		JBrowse link
G FIP1L1 factor interacting with PAPOLA and CPSF1 IAGP HPO ORPHA:520 NCBI chr 4:53,377,641...53,460,862
Ensembl chr 4:53,377,569...53,464,382 		JBrowse link
G FLI1 Fli-1 proto-oncogene, ETS transcription factor IAGP ClinVar Annotator: match by term: Thrombocytopenia ClinVar
HPO		 PMID:24100448 PMID:32581362 MIM:617443 ORPHA:2308 NCBI chr11:128,685,351...128,813,267
Ensembl chr11:128,686,535...128,813,267 		JBrowse link
G FLNA filamin A IAGP ClinVar Annotator: match by term: Low platelet count
ClinVar Annotator: match by term: Thrombocytopenia		 ClinVar
HPO		 PMID:18414213 PMID:21836662 PMID:25741868 PMID:26467025 PMID:28492532 More... MIM:300048 NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634 		JBrowse link
G FLT1 fms related receptor tyrosine kinase 1 IAGP HPO ORPHA:275555 NCBI chr13:28,300,346...28,495,128
Ensembl chr13:28,300,346...28,495,145 		JBrowse link
G FOCAD focadhesin IAGP HPO MIM:619991 NCBI chr 9:20,655,625...20,995,950
Ensembl chr 9:20,658,309...20,995,955 		JBrowse link
G FOXP3 forkhead box P3 IAGP HPO MIM:304790 NCBI chr  X:49,250,438...49,264,710
Ensembl chr  X:49,250,438...49,264,800 		JBrowse link
G FYB1 FYN binding protein 1 IAGP HPO MIM:273900 NCBI chr 5:39,105,252...39,274,528
Ensembl chr 5:39,105,252...39,274,528 		JBrowse link
G G6PC3 glucose-6-phosphatase catalytic subunit 3 IAGP HPO MIM:612541 NCBI chr17:44,070,673...44,076,344
Ensembl chr17:44,070,620...44,082,151 		JBrowse link
G GATA1 GATA binding protein 1 IAGP ClinVar Annotator: match by term: Thrombocytopenia ClinVar
HPO		 PMID:11418466 PMID:20301538 PMID:23278136 PMID:25741868 PMID:31064749 More... MIM:300835 MIM:314050 ORPHA:124 ORPHA:231393 ORPHA:79277 NCBI chr  X:48,786,590...48,794,311
Ensembl chr  X:48,786,540...48,794,311 		JBrowse link
G GATA2 GATA binding protein 2 IAGP HPO ORPHA:228423 NCBI chr 3:128,479,422...128,493,201
Ensembl chr 3:128,479,427...128,493,201 		JBrowse link
G GBA1 glucosylceramidase beta 1 IAGP ClinVar Annotator: match by term: Low platelet count
ClinVar Annotator: match by term: Thrombocytopenia		 ClinVar
HPO		 PMID:1348297 PMID:1897529 PMID:1899336 PMID:1971142 PMID:2117855 More... MIM:230800 MIM:230900 MIM:231000 MIM:608013 ORPHA:2072 ORPHA:77259 ORPHA:77260 ORPHA:77261 ORPHA:85212 NCBI chr 1:155,234,452...155,244,627
Ensembl chr 1:155,234,452...155,244,699 		JBrowse link
G GCSH glycine cleavage system protein H IAGP HPO MIM:620423 NCBI chr16:81,081,945...81,096,395
Ensembl chr16:81,081,945...81,096,395 		JBrowse link
G GFI1B growth factor independent 1B transcriptional repressor IAGP ClinVar Annotator: match by term: Thrombocytopenia ClinVar
HPO		 PMID:25741868 PMID:31064749 MIM:187900 NCBI chr 9:132,945,531...132,993,434
Ensembl chr 9:132,944,000...132,991,687 		JBrowse link
G GGCX gamma-glutamyl carboxylase IAGP ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:25741868 PMID:28492532 PMID:32935436 NCBI chr 2:85,544,720...85,561,493
Ensembl chr 2:85,544,720...85,561,532 		JBrowse link
G GIMAP5 GTPase, IMAP family member 5 IAGP HPO MIM:619463 NCBI chr 7:150,737,418...150,743,646
Ensembl chr 7:150,722,253...150,750,033 		JBrowse link
G GNA14 G protein subunit alpha 14 IAGP HPO ORPHA:1063 NCBI chr 9:77,423,079...77,648,322
Ensembl chr 9:77,423,079...77,648,322 		JBrowse link
G GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase IAGP ClinVar Annotator: match by term: Thrombocytopenia ClinVar
HPO		 PMID:24796702 PMID:25741868 PMID:26980148 PMID:28320138 PMID:28492532 More... MIM:620757 NCBI chr 9:36,214,441...36,276,978
Ensembl chr 9:36,214,441...36,277,042 		JBrowse link
G GP1BA glycoprotein Ib platelet subunit alpha IAGP ClinVar Annotator: match by term: Thrombocytopenia ClinVar
HPO		 PMID:8384898 PMID:25741868 PMID:29082515 PMID:31064749 PMID:34355501 MIM:153670 MIM:231200 NCBI chr17:4,932,277...4,935,023
Ensembl chr17:4,932,277...4,935,023 		JBrowse link
G GP1BB glycoprotein Ib platelet subunit beta IAGP ClinVar Annotator: match by term: Thrombocytopenia ClinVar
HPO		 PMID:10887115 PMID:25741868 PMID:31064749 PMID:32581362 PMID:34355501 MIM:231200 ORPHA:567 NCBI chr22:19,723,539...19,724,771
Ensembl chr22:19,723,539...19,724,771 		JBrowse link
G GP6 glycoprotein VI platelet IAGP ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:19549989 PMID:28492532 PMID:29232918 PMID:31352677 PMID:32935436 NCBI chr19:55,013,705...55,038,264
Ensembl chr19:55,013,705...55,038,264 		JBrowse link
G GP9 glycoprotein IX platelet IAGP ClinVar Annotator: match by term: Thrombocytopenia ClinVar
HPO		 PMID:8049428 PMID:8481514 PMID:14510954 PMID:25370924 PMID:25741868 More... MIM:231200 NCBI chr 3:129,054,845...129,062,406
Ensembl chr 3:129,060,779...129,062,406 		JBrowse link
G GUCY1A1 guanylate cyclase 1 soluble subunit alpha 1 IAGP HPO MIM:615750 ORPHA:401945 NCBI chr 4:155,666,848...155,737,059
Ensembl chr 4:155,666,726...155,737,059 		JBrowse link
G HACE1 HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 IAGP HPO ORPHA:635 NCBI chr 6:104,728,094...104,859,919
Ensembl chr 6:104,728,094...104,859,919 		JBrowse link
G HEATR3 HEAT repeat containing 3 IAGP HPO MIM:620072 ORPHA:124 NCBI chr16:50,065,970...50,107,272
Ensembl chr16:50,065,967...50,107,272 		JBrowse link
G HELLPAR HELLP associated long non-coding RNA IAGP HPO ORPHA:244242 Ensembl chr12:102,197,585...102,402,596 JBrowse link
G HIRA histone cell cycle regulator IAGP HPO ORPHA:567 NCBI chr22:19,330,698...19,431,733
Ensembl chr22:19,330,698...19,447,450 		JBrowse link
G HLA-B major histocompatibility complex, class I, B IAGP HPO ORPHA:36426 NCBI chr 6:31,353,875...31,357,179
Ensembl chr 6:31,353,872...31,367,067 		JBrowse link
G HLA-DRB1 major histocompatibility complex, class II, DR beta 1 IAGP HPO ORPHA:536 ORPHA:797 NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848 		JBrowse link
G HLCS holocarboxylase synthetase IAGP HPO MIM:253270 ORPHA:79242 NCBI chr21:36,748,625...36,990,211
Ensembl chr21:36,748,626...36,990,236 		JBrowse link
G HPS5 HPS5 biogenesis of lysosomal organelles complex 2 subunit 2 IAGP ClinVar Annotator: match by term: Thrombocytopenia ClinVar
HPO		 PMID:24033266 PMID:25741868 PMID:28492532 MIM:614074 NCBI chr11:18,278,670...18,322,174
Ensembl chr11:18,278,668...18,322,198 		JBrowse link
G HSCB HscB mitochondrial iron-sulfur cluster cochaperone IAGP HPO MIM:619523 NCBI chr22:28,742,032...28,757,510
Ensembl chr22:28,742,039...28,757,515 		JBrowse link
G IFIH1 interferon induced with helicase C domain 1 IAGP HPO MIM:615846 NCBI chr 2:162,267,074...162,318,684
Ensembl chr 2:162,267,074...162,318,684 		JBrowse link
G IFNG interferon gamma IAGP HPO ORPHA:88 NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740 		JBrowse link
G IGHG1 immunoglobulin heavy constant gamma 1 (G1m marker) IAGP HPO ORPHA:536 NCBI chr14:105,741,473...105,743,070
Ensembl chr14:105,736,343...105,743,071 		JBrowse link
G IKZF1 IKAROS family zinc finger 1 IAGP HPO ORPHA:36426 NCBI chr 7:50,303,455...50,405,101
Ensembl chr 7:50,304,068...50,405,101 		JBrowse link
G IKZF5 IKAROS family zinc finger 5 IAGP HPO MIM:619130 NCBI chr10:122,990,806...123,008,795
Ensembl chr10:122,990,807...123,008,812 		JBrowse link
G IL10 interleukin 10 IAGP HPO ORPHA:536 NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541 		JBrowse link
G IL6ST interleukin 6 cytokine family signal transducer IAGP HPO MIM:619751 NCBI chr 5:55,935,095...55,994,963
Ensembl chr 5:55,935,095...55,995,022 		JBrowse link
G IRAK1 interleukin 1 receptor associated kinase 1 IAGP HPO ORPHA:536 ORPHA:93552 NCBI chr  X:154,010,507...154,019,902
Ensembl chr  X:154,010,506...154,019,902 		JBrowse link
G IRF1 interferon regulatory factor 1 IAGP HPO MIM:620668 NCBI chr 5:132,481,609...132,490,773
Ensembl chr 5:132,440,440...132,508,719 		JBrowse link
G IRF2BP2 interferon regulatory factor 2 binding protein 2 IAGP HPO ORPHA:520 NCBI chr 1:234,604,269...234,610,178
Ensembl chr 1:234,602,300...234,610,178 		JBrowse link
G IRF5 interferon regulatory factor 5 IAGP HPO ORPHA:536 NCBI chr 7:128,937,032...128,950,038
Ensembl chr 7:128,937,457...128,950,038 		JBrowse link
G IRF8 interferon regulatory factor 8 IAGP HPO MIM:226990 NCBI chr16:85,899,162...85,922,609
Ensembl chr16:85,899,116...85,922,606 		JBrowse link
G ITGA2B integrin subunit alpha 2b IAGP ClinVar Annotator: match by term: Thrombocytopenia ClinVar
HPO		 PMID:1638023 PMID:9215749 PMID:9834222 PMID:18065693 PMID:19805198 More... MIM:187800 NCBI chr17:44,372,181...44,389,649
Ensembl chr17:44,372,180...44,389,649 		JBrowse link
G ITGAM integrin subunit alpha M IAGP HPO ORPHA:536 NCBI chr16:31,259,975...31,332,877
Ensembl chr16:31,259,967...31,332,892 		JBrowse link
G ITGB3 integrin subunit beta 3 IAGP ClinVar Annotator: match by term: Thrombocytopenia ClinVar
HPO		 PMID:25741868 PMID:28492532 PMID:31064749 MIM:619271 NCBI chr17:47,253,827...47,313,743
Ensembl chr17:47,253,827...47,313,743 		JBrowse link
G ITK IL2 inducible T cell kinase IAGP HPO MIM:613011 NCBI chr 5:157,180,840...157,255,185
Ensembl chr 5:157,142,933...157,255,185 		JBrowse link
G IVD isovaleryl-CoA dehydrogenase IAGP HPO MIM:243500 NCBI chr15:40,405,795...40,435,947
Ensembl chr15:40,405,485...40,435,947 		JBrowse link
G JAK2 Janus kinase 2 IAGP HPO MIM:263300 ORPHA:824 NCBI chr 9:4,984,390...5,129,948
Ensembl chr 9:4,984,390...5,129,948 		JBrowse link
G JAM2 junctional adhesion molecule 2 IAGP HPO ORPHA:1980 NCBI chr21:25,639,258...25,717,562
Ensembl chr21:25,639,258...25,717,562 		JBrowse link
G JAZF1 JAZF zinc finger 1 IAGP HPO ORPHA:536 NCBI chr 7:27,830,577...28,180,795
Ensembl chr 7:27,830,573...28,180,795 		JBrowse link
G JMJD1C jumonji domain containing 1C IAGP HPO ORPHA:567 NCBI chr10:63,167,225...63,521,890
Ensembl chr10:63,167,221...63,521,850 		JBrowse link
G KARS1 lysyl-tRNA synthetase 1 IAGP HPO ORPHA:3240 NCBI chr16:75,627,724...75,647,665
Ensembl chr16:75,627,474...75,648,643 		JBrowse link
G KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 IAGP ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:32581362 NCBI chr21:34,446,688...34,512,210
Ensembl chr21:34,446,688...34,512,214 		JBrowse link
G KCNE2 potassium voltage-gated channel subfamily E regulatory subunit 2 IAGP ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:32581362 NCBI chr21:34,364,006...34,371,381
Ensembl chr21:34,180,729...34,371,381 		JBrowse link
G KIAA0319L KIAA0319 like IAGP HPO ORPHA:536 NCBI chr 1:35,433,492...35,557,661
Ensembl chr 1:35,393,883...35,557,950 		JBrowse link
G KIF15 kinesin family member 15 IAGP HPO MIM:619981 ORPHA:261323 NCBI chr 3:44,761,794...44,868,687
Ensembl chr 3:44,761,721...44,873,376 		JBrowse link
G KIT KIT proto-oncogene, receptor tyrosine kinase IAGP HPO ORPHA:98849 NCBI chr 4:54,657,957...54,740,715
Ensembl chr 4:54,657,267...54,740,783 		JBrowse link
G LARS2 leucyl-tRNA synthetase 2, mitochondrial IAGP HPO MIM:617021 NCBI chr 3:45,388,576...45,549,407
Ensembl chr 3:45,388,561...45,554,726 		JBrowse link
G LBR lamin B receptor IAGP HPO MIM:169400 NCBI chr 1:225,401,502...225,428,821
Ensembl chr 1:225,401,502...225,428,925 		JBrowse link
G LCK LCK proto-oncogene, Src family tyrosine kinase IAGP HPO MIM:615758 NCBI chr 1:32,251,265...32,286,165
Ensembl chr 1:32,251,244...32,286,165 		JBrowse link
G LIG4 DNA ligase 4 IAGP HPO MIM:606593 ORPHA:235 NCBI chr13:108,207,442...108,218,349
Ensembl chr13:108,207,439...108,218,368 		JBrowse link
G LIN28B lin-28 homolog B IAGP HPO ORPHA:635 NCBI chr 6:104,937,026...105,083,332
Ensembl chr 6:104,936,616...105,083,332 		JBrowse link
G LIPA lipase A, lysosomal acid type IAGP HPO MIM:278000 NCBI chr10:89,213,572...89,251,775
Ensembl chr10:89,213,569...89,414,557 		JBrowse link
G LMBRD1 LMBR1 domain containing 1 IAGP HPO MIM:277380 NCBI chr 6:69,674,010...69,797,010
Ensembl chr 6:69,672,757...69,867,236 		JBrowse link
G LMO1 LIM domain only 1 IAGP HPO ORPHA:635 NCBI chr11:8,224,309...8,268,787
Ensembl chr11:8,224,309...8,268,716 		JBrowse link
G LOC106627981 GBA recombination region IAGP ClinVar Annotator: match by term: Low platelet count
ClinVar Annotator: match by term: Thrombocytopenia		 ClinVar PMID:1348297 PMID:1897529 PMID:1899336 PMID:1971142 PMID:2117855 More... NCBI chr 1:155,233,639...155,240,092 JBrowse link
G LOC107988032 Xq28 proximal FLNA-EMD recombination region IAGP ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:154,335,912...154,349,572 JBrowse link
G LOC126861451 BRD4-independent group 4 enhancer GRCh37_chr12:11991350-11992549 IAGP ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:25741868 NCBI chr12:11,838,416...11,839,615 JBrowse link
G LOC126861452 CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:12037195-12038394 IAGP ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:9694803 PMID:15806161 PMID:18305557 PMID:21680795 PMID:21714648 More... NCBI chr12:11,884,261...11,885,460 JBrowse link
G LOC126863137 CDK7 strongly-dependent group 2 enhancer GRCh37_chr22:36696002-36697201 IAGP ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:25741868 PMID:31064749 NCBI chr22:36,299,956...36,301,155 JBrowse link
G LOC130003555 ATAC-STARR-seq lymphoblastoid active region 3180 IAGP ClinVar Annotator: match by term: Thrombocytopenia ClinVar NCBI chr10:27,155,114...27,155,173 JBrowse link
G LOC130005404 ATAC-STARR-seq lymphoblastoid active region 4495 IAGP ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr11:18,310,827...18,310,906 JBrowse link
G LOC130060044 ATAC-STARR-seq lymphoblastoid active region 11554 IAGP ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:25741868 NCBI chr17:4,934,323...4,934,542 JBrowse link
G LRBA LPS responsive beige-like anchor protein IAGP HPO MIM:614700 NCBI chr 4:150,264,435...151,015,727
Ensembl chr 4:150,264,435...151,015,727 		JBrowse link
G LYN LYN proto-oncogene, Src family tyrosine kinase IAGP HPO MIM:620376 NCBI chr 8:55,879,835...56,014,169
Ensembl chr 8:55,879,835...56,014,169 		JBrowse link
G LYST lysosomal trafficking regulator IAGP ClinVar Annotator: match by term: Low platelet count
ClinVar Annotator: match by term: Thrombocytopenia		 ClinVar
HPO		 PMID:9215679 PMID:11857544 PMID:25741868 PMID:28492532 PMID:32935436 MIM:214500 ORPHA:167 NCBI chr 1:235,661,031...235,883,713
Ensembl chr 1:235,661,041...235,883,724 		JBrowse link
G MAD2L2 mitotic arrest deficient 2 like 2 IAGP HPO MIM:617243 ORPHA:84 NCBI chr 1:11,674,480...11,691,830
Ensembl chr 1:11,657,230...11,691,811 		JBrowse link
G MADD MAP kinase activating death domain IAGP HPO MIM:619004 MIM:619005 NCBI chr11:47,269,188...47,330,031
Ensembl chr11:47,269,161...47,330,031 		JBrowse link
G MASTL microtubule associated serine/threonine kinase like IAGP ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:25741868 PMID:28492532 NCBI chr10:27,154,479...27,187,953
Ensembl chr10:27,154,824...27,187,953 		JBrowse link
G MCFD2 multiple coagulation factor deficiency 2, ER cargo receptor complex subunit IAGP ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:25741868 NCBI chr 2:46,901,870...46,941,855
Ensembl chr 2:46,901,870...46,941,855 		JBrowse link
G MECOM MDS1 and EVI1 complex locus IAGP ClinVar Annotator: match by term: Thrombocytopenia ClinVar
HPO		 PMID:28492532 PMID:32581362 MIM:616738 NCBI chr 3:169,083,507...169,663,712
Ensembl chr 3:169,083,499...169,663,775 		JBrowse link
G MECP2 methyl-CpG binding protein 2 IAGP HPO ORPHA:536 NCBI chr  X:154,021,573...154,097,717
Ensembl chr  X:154,021,573...154,137,103 		JBrowse link
G MED12 mediator complex subunit 12 IAGP HPO MIM:301068 NCBI chr  X:71,118,596...71,142,450
Ensembl chr  X:71,118,543...71,144,103 		JBrowse link
G MED12L mediator complex subunit 12L IAGP ClinVar Annotator: match by term: Thrombocytopenia ClinVar NCBI chr 3:151,085,664...151,436,653
Ensembl chr 3:151,085,286...151,437,072 		JBrowse link
G MICU1 mitochondrial calcium uptake 1 IAGP ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:25741868 PMID:27159402 PMID:28492532 PMID:29987015 PMID:31618753 More... NCBI chr10:72,367,340...72,626,079
Ensembl chr10:72,367,340...72,626,131 		JBrowse link
G MMAA metabolism of cobalamin associated A IAGP HPO MIM:251100 NCBI chr 4:145,619,385...145,660,033
Ensembl chr 4:145,599,042...145,660,033 		JBrowse link
G MMAB metabolism of cobalamin associated B IAGP HPO MIM:251110 NCBI chr12:109,553,715...109,573,504
Ensembl chr12:109,553,715...109,573,580 		JBrowse link
G MMACHC metabolism of cobalamin associated C IAGP HPO MIM:277400 ORPHA:79282 NCBI chr 1:45,500,300...45,513,382
Ensembl chr 1:45,500,300...45,513,382 		JBrowse link
G MMUT methylmalonyl-CoA mutase IAGP HPO MIM:251000 ORPHA:289916 ORPHA:79312 NCBI chr 6:49,430,360...49,463,253
Ensembl chr 6:49,430,360...49,463,253 		JBrowse link
G MOGS mannosyl-oligosaccharide glucosidase IAGP HPO ORPHA:79330 NCBI chr 2:74,461,057...74,465,382
Ensembl chr 2:74,461,057...74,465,410 		JBrowse link
G MPIG6B megakaryocyte and platelet inhibitory receptor G6b IAGP HPO MIM:617441 NCBI chr 6:31,720,296...31,726,714
Ensembl chr 6:31,718,594...31,726,714 		JBrowse link
G MPL MPL proto-oncogene, thrombopoietin receptor IAGP ClinVar Annotator: match by term: Thrombocytopenia ClinVar
HPO		 PMID:971406 PMID:8073287 PMID:10971406 PMID:11133753 PMID:11972523 More... MIM:604498 ORPHA:3319 ORPHA:824 NCBI chr 1:43,337,818...43,354,466
Ensembl chr 1:43,337,818...43,354,466 		JBrowse link
G MRPS6 mitochondrial ribosomal protein S6 IAGP ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:32581362 NCBI chr21:34,073,578...34,143,030
Ensembl chr21:34,073,224...34,362,252 		JBrowse link
G MTHFR methylenetetrahydrofolate reductase susceptibility
treatment		 IAGP DNA:transition:cds:g.677C>T
DNA:missense mutation:cds:677C>T		 RGD PMID:19448163 PMID:21644011 RGD:6893633, RGD:10449407 NCBI chr 1:11,785,723...11,805,964
Ensembl chr 1:11,785,723...11,806,455 		JBrowse link
G MTOR mechanistic target of rapamycin kinase IAGP HPO MIM:616638 NCBI chr 1:11,106,535...11,262,551
Ensembl chr 1:11,106,535...11,262,556 		JBrowse link
G MVK mevalonate kinase IAGP HPO MIM:610377 NCBI chr12:109,573,272...109,598,125
Ensembl chr12:109,573,255...109,598,125 		JBrowse link
G MYCN MYCN proto-oncogene, bHLH transcription factor IAGP HPO ORPHA:635 NCBI chr 2:15,940,550...15,947,004
Ensembl chr 2:15,940,550...15,947,007 		JBrowse link
G MYH9 myosin heavy chain 9 IAGP associated with MYH9-Related Disorders;DNA:mutation:cds:p.D1424N(human)
ClinVar Annotator: match by term: Thrombocytopenia
ClinVar Annotator: match by term: Low platelet count		 ClinVar
HPO
RGD		 PMID:1449176 PMID:10739770 PMID:10973259 PMID:10973260 PMID:11159552 More... MIM:155100, RGD:11533923 NCBI chr22:36,281,280...36,387,967
Ensembl chr22:36,281,280...36,388,010 		JBrowse link
G MYORG myogenesis regulating glycosidase IAGP HPO ORPHA:1980 NCBI chr 9:34,366,666...34,376,898
Ensembl chr 9:34,366,666...34,376,898 		JBrowse link
G MYSM1 Myb like, SWIRM and MPN domains 1 IAGP HPO MIM:618116 ORPHA:508542 NCBI chr 1:58,654,743...58,700,062
Ensembl chr 1:58,643,440...58,700,090 		JBrowse link
G NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit IAGP HPO MIM:300855 NCBI chr  X:153,929,225...153,935,037
Ensembl chr  X:153,929,225...153,935,080 		JBrowse link
G NABP1 nucleic acid binding protein 1 IAGP HPO ORPHA:520 NCBI chr 2:191,678,136...191,686,943
Ensembl chr 2:191,678,068...191,741,097 		JBrowse link
G NAF1 nuclear assembly factor 1 ribonucleoprotein IAGP HPO MIM:620365 NCBI chr 4:163,103,929...163,166,890
Ensembl chr 4:163,110,073...163,166,890 		JBrowse link
G NBEAL2 neurobeachin like 2 IAGP ClinVar Annotator: match by term: Low platelet count
ClinVar Annotator: match by term: Thrombocytopenia		 ClinVar
HPO		 PMID:25741868 PMID:28492532 MIM:139090 ORPHA:721 NCBI chr 3:46,979,666...47,009,701
Ensembl chr 3:46,979,666...47,009,704 		JBrowse link
G NBN nibrin IAGP HPO MIM:251260 ORPHA:647 NCBI chr 8:89,933,331...89,984,667
Ensembl chr 8:89,924,515...90,003,228 		JBrowse link
G NFKB1 nuclear factor kappa B subunit 1 IAGP HPO MIM:616576 NCBI chr 4:102,501,359...102,617,302
Ensembl chr 4:102,501,330...102,617,302 		JBrowse link
G NHEJ1 non-homologous end joining factor 1 IAGP HPO ORPHA:169079 NCBI chr 2:219,069,357...219,160,815
Ensembl chr 2:219,069,355...219,160,869 		JBrowse link
G NHP2 NHP2 ribonucleoprotein IAGP HPO MIM:224230 MIM:613987 ORPHA:1775 NCBI chr 5:178,149,463...178,153,885
Ensembl chr 5:178,149,463...178,153,894 		JBrowse link
G NIPBL NIPBL cohesin loading factor IAGP HPO MIM:122470 NCBI chr 5:36,876,769...37,066,413
Ensembl chr 5:36,876,769...37,066,413 		JBrowse link
G NLRC4 NLR family CARD domain containing 4 IAGP HPO MIM:616050 NCBI chr 2:32,224,449...32,265,743
Ensembl chr 2:32,224,453...32,265,732 		JBrowse link
G NOP10 NOP10 ribonucleoprotein IAGP HPO MIM:224230 ORPHA:1775 NCBI chr15:34,341,719...34,343,136
Ensembl chr15:34,339,159...34,343,180 		JBrowse link
G NOS3 nitric oxide synthase 3 IAGP HPO MIM:189800 NCBI chr 7:150,991,017...151,014,588
Ensembl chr 7:150,991,017...151,014,588 		JBrowse link
G NOTCH1 notch receptor 1 IAGP HPO ORPHA:974 NCBI chr 9:136,494,433...136,546,048
Ensembl chr 9:136,494,433...136,546,048 		JBrowse link
G NPM1 nucleophosmin 1 IAGP HPO ORPHA:1775 ORPHA:520 NCBI chr 5:171,387,116...171,410,900
Ensembl chr 5:171,387,116...171,411,810 		JBrowse link
G NSD2 nuclear receptor binding SET domain protein 2 IAGP ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:25741868 NCBI chr 4:1,871,393...1,982,192
Ensembl chr 4:1,871,393...1,982,207 		JBrowse link
G NSUN2 NOP2/Sun RNA methyltransferase 2 IAGP HPO ORPHA:235 NCBI chr 5:6,599,239...6,633,044
Ensembl chr 5:6,599,239...6,633,291 		JBrowse link
G NUMA1 nuclear mitotic apparatus protein 1 IAGP HPO ORPHA:520 NCBI chr11:72,002,864...72,080,542
Ensembl chr11:72,002,864...72,080,693 		JBrowse link
G OCLN occludin IAGP HPO MIM:251290 NCBI chr 5:69,492,547...69,558,104
Ensembl chr 5:69,492,292...69,558,104 		JBrowse link
G OCRL OCRL inositol polyphosphate-5-phosphatase IAGP HPO ORPHA:534 NCBI chr  X:129,540,259...129,592,556
Ensembl chr  X:129,539,849...129,592,561 		JBrowse link
G OSTM1 osteoclastogenesis associated transmembrane protein 1 IAGP HPO MIM:259720 NCBI chr 6:108,041,409...108,074,741
Ensembl chr 6:108,029,245...108,165,854 		JBrowse link
G OTUD5 OTU deubiquitinase 5 IAGP HPO MIM:301056 NCBI chr  X:48,922,024...48,958,381
Ensembl chr  X:48,922,024...48,958,386 		JBrowse link
G P2RY12 purinergic receptor P2Y12 IAGP ClinVar Annotator: match by term: Thrombocytopenia ClinVar NCBI chr 3:151,336,843...151,384,753
Ensembl chr 3:151,336,843...151,384,753 		JBrowse link
G PALB2 partner and localizer of BRCA2 IAGP HPO ORPHA:84 NCBI chr16:23,603,165...23,641,310
Ensembl chr16:23,603,160...23,641,321 		JBrowse link
G PARN poly(A)-specific ribonuclease IAGP HPO ORPHA:1775 ORPHA:3322 NCBI chr16:14,435,701...14,630,260
Ensembl chr16:14,435,700...14,632,728 		JBrowse link
G PCCA propionyl-CoA carboxylase subunit alpha IAGP HPO MIM:606054 NCBI chr13:100,089,093...100,530,435
Ensembl chr13:100,089,015...100,530,437 		JBrowse link
G PCCB propionyl-CoA carboxylase subunit beta IAGP HPO MIM:606054 NCBI chr 3:136,250,340...136,330,169
Ensembl chr 3:136,250,340...136,337,896 		JBrowse link
G PDCD1 programmed cell death 1 IAGP HPO ORPHA:536 NCBI chr 2:241,849,884...241,858,894
Ensembl chr 2:241,849,884...241,858,894 		JBrowse link
G PDGFB platelet derived growth factor subunit B IAGP HPO ORPHA:1980 NCBI chr22:39,223,359...39,244,982
Ensembl chr22:39,223,359...39,244,982 		JBrowse link
G PDGFRB platelet derived growth factor receptor beta IAGP HPO ORPHA:1980 NCBI chr 5:150,113,839...150,155,845
Ensembl chr 5:150,113,839...150,155,872 		JBrowse link
G PEPD peptidase D IAGP HPO MIM:170100 NCBI chr19:33,386,950...33,521,791
Ensembl chr19:33,386,950...33,521,823 		JBrowse link
G PHGDH phosphoglycerate dehydrogenase IAGP HPO MIM:601815 NCBI chr 1:119,711,934...119,744,215
Ensembl chr 1:119,648,411...119,744,218 		JBrowse link
G PHOX2B paired like homeobox 2B IAGP HPO ORPHA:635 NCBI chr 4:41,744,082...41,748,725
Ensembl chr 4:41,744,082...41,748,725 		JBrowse link
G PIGA phosphatidylinositol glycan anchor biosynthesis class A IAGP HPO MIM:300868 MIM:301072 ORPHA:447 NCBI chr  X:15,319,451...15,335,554
Ensembl chr  X:15,319,452...15,335,554 		JBrowse link
G PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma IAGP HPO MIM:619802 NCBI chr 7:106,865,282...106,908,980
Ensembl chr 7:106,865,278...106,908,980 		JBrowse link
G PKHD1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin IAGP HPO ORPHA:731 NCBI chr 6:51,615,299...52,087,615
Ensembl chr 6:51,615,299...52,087,613 		JBrowse link
G PLAU plasminogen activator, urokinase IAGP