Abnormal platelet morphology - Ontology Report

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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:	Abnormal platelet morphology	go back to main search page
Accession:	HP:0011875	browse the term
Definition:	An anomaly in platelet form, ultrastructure, or intracellular organelles.
Synonyms:	exact_synonym:	Abnormal shape of platelets
	xref:	UMLS:C0855742

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Genes (535) Variants (441)

Abnormal platelet morphology

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

calreticulin

NCBI chr19:12,938,609...12,944,489
Ensembl chr19:12,938,578...12,944,489

Janus kinase 2

NCBI chr 9:4,984,390...5,129,948
Ensembl chr 9:4,984,390...5,129,948

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

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

sterol-C5-desaturase

NCBI chr11:121,292,771...121,313,410
Ensembl chr11:121,292,681...121,313,410

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

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

tumor protein p53

NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,546

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

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

Abnormal alpha granule content

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

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

Abnormal dense granule content

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

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

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

Abnormal dense granules

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

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

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

Abnormal number of alpha granules

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

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

neurobeachin like 2

NCBI chr 3:46,979,666...47,009,701
Ensembl chr 3:46,979,666...47,009,704

Abnormal number of dense granules

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

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

Abnormal platelet count

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

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

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

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

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

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

GP6

glycoprotein VI platelet

IAGP

HPO

MIM:614201

NCBI chr19:55,013,705...55,038,264
Ensembl chr19:55,013,705...55,038,264

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

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

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

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

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

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

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

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

TBXA2R

thromboxane A2 receptor

IAGP

HPO

MIM:614009

NCBI chr19:3,594,507...3,606,875
Ensembl chr19:3,594,507...3,606,875

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

Abnormal platelet granules

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

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

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

Abnormal platelet shape

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

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

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

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

Abnormal platelet volume

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

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

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

Absence of alpha granules

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

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

Absent platelet dense granules

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

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

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

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

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

Amegakaryocytic thrombocytopenia

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

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

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

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

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

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

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

Autoimmune thrombocytopenia

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

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

adenosine deaminase

NCBI chr20:44,619,522...44,651,699
Ensembl chr20:44,584,896...44,652,252

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

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

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

CD19 molecule

NCBI chr16:28,931,971...28,939,342
Ensembl chr16:28,931,965...28,939,342

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

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

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

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

catenin beta like 1

NCBI chr20:37,694,030...37,872,118
Ensembl chr20:37,694,030...37,872,129

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

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

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

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

galactosylceramidase

NCBI chr14:87,933,014...87,993,667
Ensembl chr14:87,837,820...87,993,665

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

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

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

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

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

KMT2D

lysine methyltransferase 2D

IAGP

HPO

MIM:147920

NCBI chr12:49,018,978...49,060,794
Ensembl chr12:49,018,975...49,060,794

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

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

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

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

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

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

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

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

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

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

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

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

regulatory factor X5

NCBI chr 1:151,340,640...151,347,252
Ensembl chr 1:151,340,640...151,347,326

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

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

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

SMPD1

sphingomyelin phosphodiesterase 1

IAGP

HPO

ORPHA:77293

NCBI chr11:6,390,474...6,394,996
Ensembl chr11:6,390,440...6,394,998

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

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

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

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

toll like receptor 7

NCBI chr X:12,867,072...12,890,361
Ensembl chr X:12,867,072...12,890,361

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

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

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

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

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

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

Congenital thrombocytopenia

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

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

homeobox A11

NCBI chr 7:27,181,157...27,185,232
Ensembl chr 7:27,181,157...27,185,232

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

myosin heavy chain 9

NCBI chr22:36,281,280...36,387,967
Ensembl chr22:36,281,280...36,388,010

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

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

Decreased mean platelet volume

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

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

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

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

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

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

Enlarged platelet dense granules

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

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

Giant platelets

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

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

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

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

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

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

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

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

lamin B receptor

NCBI chr 1:225,401,502...225,428,821
Ensembl chr 1:225,401,502...225,428,925

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

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

Increased mean platelet volume

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

actin beta

NCBI chr 7:5,527,148...5,530,601
Ensembl chr 7:5,526,409...5,563,902

actinin alpha 1

NCBI chr14:68,874,128...68,979,302
Ensembl chr14:68,874,123...68,979,440

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

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

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

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

filamin A

NCBI chr X:154,348,531...154,374,634
Ensembl chr X:154,348,524...154,374,634

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

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

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

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

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

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

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

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

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

tropomyosin 4

NCBI chr19:16,067,538...16,103,002
Ensembl chr19:16,067,021...16,103,005

Intermittent thrombocytopenia

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

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

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

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

transferrin receptor

NCBI chr 3:196,049,284...196,082,090
Ensembl chr 3:196,012,511...196,082,153

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

WD repeat domain 1

NCBI chr 4:10,074,339...10,116,799
Ensembl chr 4:10,068,089...10,116,972

Macrothrombocytopenia

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

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

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

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

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

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

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

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:10887115 PMID:25741868 PMID:31064749 PMID:32581362 PMID:34355501 More...

MIM:231200 ORPHA:274, RGD:13464128

NCBI chr22:19,723,539...19,724,771
Ensembl chr22:19,723,539...19,724,771

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

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

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

LOC107988032

Xq28 proximal FLNA-EMD recombination region

IAGP

ClinVar Annotator: match by term: Macrothrombocytopenia

ClinVar

NCBI chr X:154,335,912...154,349,572

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

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

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

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

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

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

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

tropomyosin 4

NCBI chr19:16,067,538...16,103,002
Ensembl chr19:16,067,021...16,103,005

tubulin alpha 8

NCBI chr22:18,110,809...18,131,732
Ensembl chr22:18,110,100...18,146,683

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

Neonatal alloimmune thrombocytopenia

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

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

CD109 molecule

NCBI chr 6:73,679,192...73,828,313
Ensembl chr 6:73,695,785...73,828,316

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

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

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

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

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

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

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

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

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

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

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

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

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

Platelet anisocytosis

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

actin beta

NCBI chr 7:5,527,148...5,530,601
Ensembl chr 7:5,526,409...5,563,902

actinin alpha 1

NCBI chr14:68,874,128...68,979,302
Ensembl chr14:68,874,123...68,979,440

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

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

Reduced platelet alpha granules

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

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

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

Reduced platelet dense granules

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

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

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

Thrombocytopenia

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

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

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

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

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

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

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

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

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

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

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

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

ADA2

adenosine deaminase 2

IAGP

HPO

ORPHA:124

NCBI chr22:17,178,790...17,221,848
Ensembl chr22:17,178,790...17,258,235

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

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

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

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

acylglycerol kinase

NCBI chr 7:141,551,410...141,655,244
Ensembl chr 7:141,551,278...141,655,244

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

BCL6 corepressor

NCBI chr X:40,051,246...40,177,329
Ensembl chr X:40,049,815...40,177,329

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

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

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

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

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

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

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

butyrophilin like 2

NCBI chr 6:32,393,339...32,407,181
Ensembl chr 6:32,393,339...32,407,181

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

complement C3

IAGP

HPO

MIM:612925

NCBI chr19:6,677,704...6,720,650
Ensembl chr19:6,677,704...6,730,562

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

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

carbonic anhydrase 2

NCBI chr 8:85,464,007...85,481,493
Ensembl chr 8:85,463,968...85,481,493

calreticulin

NCBI chr19:12,938,609...12,944,489
Ensembl chr19:12,938,578...12,944,489

caspase 10

NCBI chr 2:201,183,141...201,229,406
Ensembl chr 2:201,182,872...201,229,428

Cbl proto-oncogene

NCBI chr11:119,206,339...119,308,149
Ensembl chr11:119,206,298...119,313,926

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

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

CD40 ligand

NCBI chr X:136,648,158...136,660,390
Ensembl chr X:136,648,158...136,660,390

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

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

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

complement factor B

NCBI chr 6:31,946,095...31,952,084
Ensembl chr 6:31,945,650...31,952,086

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

COMT

catechol-O-methyltransferase

IAGP

HPO

ORPHA:567

NCBI chr22:19,941,772...19,969,975
Ensembl chr22:19,941,371...19,969,975

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

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

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

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

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

cubilin

NCBI chr10:16,823,966...17,129,811
Ensembl chr10:16,823,966...17,129,811

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

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

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

DGKE

diacylglycerol kinase epsilon

IAGP

HPO

MIM:615008

NCBI chr17:56,834,151...56,869,567
Ensembl chr17:56,834,107...56,869,567

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

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

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

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

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

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

deoxyribonuclease 1

NCBI chr16:3,611,760...3,665,461
Ensembl chr16:3,611,728...3,680,143

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

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

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

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

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

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

ELANE

elastase, neutrophil expressed

IAGP

HPO

ORPHA:2686

NCBI chr19:852,303...856,243
Ensembl chr19:851,014...856,247

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

EPH receptor B2

NCBI chr 1:22,710,838...22,921,500
Ensembl chr 1:22,710,839...22,921,500

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

focadhesin

NCBI chr 9:20,655,625...20,995,950
Ensembl chr 9:20,658,309...20,995,955

forkhead box P3

NCBI chr X:49,250,438...49,264,710
Ensembl chr X:49,250,438...49,264,800

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

HELLPAR

HELLP associated long non-coding RNA

IAGP

HPO

ORPHA:244242

Ensembl chr12:102,197,585...102,402,596

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

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

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

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

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

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

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

interferon gamma

NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740

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

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

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

interleukin 10

NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541

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

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

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

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

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

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

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

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

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

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

IVD

isovaleryl-CoA dehydrogenase

IAGP

HPO

MIM:243500

NCBI chr15:40,405,795...40,435,947
Ensembl chr15:40,405,485...40,435,947

Janus kinase 2

NCBI chr 9:4,984,390...5,129,948
Ensembl chr 9:4,984,390...5,129,948

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

JAZF zinc finger 1

NCBI chr 7:27,830,577...28,180,795
Ensembl chr 7:27,830,573...28,180,795

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

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

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

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

KIAA0319 like

NCBI chr 1:35,433,492...35,557,661
Ensembl chr 1:35,393,883...35,557,950

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

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

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

lamin B receptor

NCBI chr 1:225,401,502...225,428,821
Ensembl chr 1:225,401,502...225,428,925

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

DNA ligase 4

NCBI chr13:108,207,442...108,218,349
Ensembl chr13:108,207,439...108,218,368

lin-28 homolog B

NCBI chr 6:104,937,026...105,083,332
Ensembl chr 6:104,936,616...105,083,332

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

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

LIM domain only 1

NCBI chr11:8,224,309...8,268,787
Ensembl chr11:8,224,309...8,268,716

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

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

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

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

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

LOC130003555

ATAC-STARR-seq lymphoblastoid active region 3180

IAGP

ClinVar Annotator: match by term: Thrombocytopenia

ClinVar

NCBI chr10:27,155,114...27,155,173

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

mevalonate kinase

NCBI chr12:109,573,272...109,598,125
Ensembl chr12:109,573,255...109,598,125

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

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

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

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

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

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

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

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

nibrin

NCBI chr 8:89,933,331...89,984,667
Ensembl chr 8:89,924,515...90,003,228

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

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

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

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

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

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

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

notch receptor 1

NCBI chr 9:136,494,433...136,546,048
Ensembl chr 9:136,494,433...136,546,048

nucleophosmin 1

NCBI chr 5:171,387,116...171,410,900
Ensembl chr 5:171,387,116...171,411,810

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

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

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

occludin

NCBI chr 5:69,492,547...69,558,104
Ensembl chr 5:69,492,292...69,558,104

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

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

OTU deubiquitinase 5

NCBI chr X:48,922,024...48,958,381
Ensembl chr X:48,922,024...48,958,386

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

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

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

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

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

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

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

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

peptidase D

NCBI chr19:33,386,950...33,521,791
Ensembl chr19:33,386,950...33,521,823

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

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

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

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

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

PLAU

plasminogen activator, urokinase

IAGP

HPO

MIM:601709

NCBI chr10:73,909,164...73,917,494
Ensembl chr10:73,909,177...73,917,496

PLCB2

phospholipase C beta 2

IAGP

ClinVar Annotator: match by term: Thrombocytopenia

ClinVar

PMID:25741868

NCBI chr15:40,284,256...40,307,935
Ensembl chr15:40,278,176...40,307,935

PLEKHM1

pleckstrin homology and RUN domain containing M1

IAGP

HPO

ORPHA:210110

NCBI chr17:45,434,209...45,490,721
Ensembl chr17:45,435,900...45,490,758

PLG

plasminogen

IAGP

ClinVar Annotator: match by term: Thrombocytopenia

ClinVar

PMID:25741868 PMID:28492532 PMID:34355501

NCBI chr 6:160,702,193...160,754,097
Ensembl chr 6:160,702,194...160,754,097

PLOD3

procollagen-lysine,2-oxoglutarate 5-dioxygenase 3

IAGP

HPO

MIM:612394

NCBI chr 7:101,205,984...101,217,581
Ensembl chr 7:101,205,977...101,218,420

PML

PML nuclear body scaffold

IAGP

HPO

ORPHA:520

NCBI chr15:73,994,716...74,047,827
Ensembl chr15:73,994,673...74,047,827

POLRMT

RNA polymerase mitochondrial

IAGP

HPO

MIM:619743

NCBI chr19:617,221...633,537
Ensembl chr19:617,221...633,537

POMP

proteasome maturation protein

IAGP

HPO

MIM:618048

NCBI chr13:28,659,130...28,678,959
Ensembl chr13:28,659,065...28,678,959

POT1

protection of telomeres 1

IAGP

HPO

MIM:620367

NCBI chr 7:124,822,386...124,929,825
Ensembl chr 7:124,822,386...124,929,983

PPIL1

peptidylprolyl isomerase like 1

IAGP

HPO

MIM:619301

NCBI chr 6:36,854,829...36,874,803
Ensembl chr 6:36,854,827...36,874,803

peroxiredoxin 1

NCBI chr 1:45,511,051...45,522,890
Ensembl chr 1:45,510,914...45,542,732

PRF1

perforin 1

IAGP

HPO

MIM:603553 ORPHA:540 ORPHA:88

NCBI chr10:70,597,348...70,602,741
Ensembl chr10:70,597,348...70,602,759

PRIM1

DNA primase subunit 1

IAGP

HPO

MIM:620005

NCBI chr12:56,731,580...56,752,323
Ensembl chr12:56,730,438...56,752,374

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

PRKAR1A

protein kinase cAMP-dependent type I regulatory subunit alpha

IAGP

HPO

ORPHA:520

NCBI chr17:68,413,623...68,551,316
Ensembl chr17:68,511,780...68,551,319

PROS1

protein S

IAGP

ClinVar Annotator: match by term: Thrombocytopenia

ClinVar

PMID:8943854 PMID:20880255 PMID:25741868 PMID:28492532 PMID:31064749

NCBI chr 3:93,873,051...93,973,896
Ensembl chr 3:93,873,051...93,980,003

prosaposin

NCBI chr10:71,816,298...71,851,251
Ensembl chr10:71,816,298...71,851,251

PSMB4

proteasome 20S subunit beta 4

IAGP

HPO

MIM:617591

NCBI chr 1:151,399,573...151,401,937
Ensembl chr 1:151,399,560...151,401,937

PSMB8

proteasome 20S subunit beta 8

IAGP

HPO

MIM:256040

NCBI chr 6:32,840,717...32,844,679
Ensembl chr 6:32,840,717...32,844,679

PSMB9

proteasome 20S subunit beta 9

IAGP

HPO

MIM:617591

NCBI chr 6:32,854,192...32,859,851
Ensembl chr 6:32,844,136...32,860,734

PTPN11

protein tyrosine phosphatase non-receptor type 11

IAGP

ClinVar Annotator: match by term: Thrombocytopenia

ClinVar

PMID:4746100 PMID:11704759 PMID:11992261 PMID:12161469 PMID:12634870 More...

NCBI chr12:112,418,947...112,509,918
Ensembl chr12:112,418,351...112,509,918

PTPN22

protein tyrosine phosphatase non-receptor type 22

IAGP

HPO

MIM:152700 ORPHA:536

NCBI chr 1:113,813,811...113,871,759
Ensembl chr 1:113,813,811...113,871,753

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

PXK

PX domain containing serine/threonine kinase like

IAGP

HPO

ORPHA:536

NCBI chr 3:58,332,892...58,426,127
Ensembl chr 3:58,332,880...58,426,127

RAD51 recombinase

NCBI chr15:40,694,733...40,732,340
Ensembl chr15:40,694,774...40,732,340

RAD51 paralog C

NCBI chr17:58,692,573...58,735,611
Ensembl chr17:58,692,573...58,735,611

RAG1

recombination activating 1

IAGP

HPO

MIM:603554 ORPHA:331206

NCBI chr11:36,510,353...36,579,762
Ensembl chr11:36,510,372...36,593,156

RAG2

recombination activating 2

IAGP

HPO

MIM:603554 ORPHA:331206

NCBI chr11:36,590,996...36,598,236
Ensembl chr11:36,575,574...36,598,279

RAP1B

RAP1B, member of RAS oncogene family

IAGP

HPO

MIM:620654

NCBI chr12:68,610,899...68,671,901
Ensembl chr12:68,610,855...68,671,901

RARA

retinoic acid receptor alpha

IAGP

HPO

ORPHA:520

NCBI chr17:40,309,180...40,357,643
Ensembl chr17:40,309,180...40,357,643

RBM8A

RNA binding motif protein 8A

IAGP

HPO

MIM:274000 ORPHA:3320

NCBI chr 1:145,921,556...145,927,484
Ensembl chr 1:145,921,556...145,927,678

RBPJ

recombination signal binding protein for immunoglobulin kappa J region

IAGP

HPO

ORPHA:974

NCBI chr 4:26,105,449...26,435,131
Ensembl chr 4:26,163,455...26,435,131

RCAN1

regulator of calcineurin 1

IAGP

ClinVar Annotator: match by term: Thrombocytopenia

ClinVar

PMID:32581362

NCBI chr21:34,516,442...34,615,113
Ensembl chr21:34,513,142...34,615,113

RecQ like helicase

NCBI chr12:21,468,910...21,501,635
Ensembl chr12:21,468,910...21,501,669

RFWD3

ring finger and WD repeat domain 3

IAGP

HPO

ORPHA:84

NCBI chr16:74,621,399...74,666,877
Ensembl chr16:74,621,399...74,666,877

RNASEH2A

ribonuclease H2 subunit A

IAGP

HPO

MIM:610333

NCBI chr19:12,806,584...12,813,640
Ensembl chr19:12,806,584...12,813,640

RNASEH2C

ribonuclease H2 subunit C

IAGP

HPO

MIM:610329

NCBI chr11:65,717,673...65,720,798
Ensembl chr11:65,714,005...65,720,818

RPL11

ribosomal protein L11

IAGP

HPO

ORPHA:124

NCBI chr 1:23,691,779...23,696,835
Ensembl chr 1:23,691,742...23,696,835

RPL15

ribosomal protein L15

IAGP

HPO

ORPHA:124

NCBI chr 3:23,916,545...23,924,631
Ensembl chr 3:23,916,591...23,924,374

RPL18

ribosomal protein L18

IAGP

HPO

ORPHA:124

NCBI chr19:48,615,331...48,619,178
Ensembl chr19:48,615,328...48,619,184

RPL26

ribosomal protein L26

IAGP

HPO

ORPHA:124

NCBI chr17:8,377,516...8,383,193
Ensembl chr17:8,377,516...8,383,213

RPL27

ribosomal protein L27

IAGP

HPO

ORPHA:124

NCBI chr17:42,998,273...43,002,959
Ensembl chr17:42,998,273...43,002,959

RPL31

ribosomal protein L31

IAGP

HPO

ORPHA:124

NCBI chr 2:101,002,289...101,019,724
Ensembl chr 2:101,002,229...101,024,032

RPL35

ribosomal protein L35

IAGP

HPO

ORPHA:124

NCBI chr 9:124,857,883...124,861,957
Ensembl chr 9:124,857,880...124,861,981

RPL35A

ribosomal protein L35a

IAGP

HPO

ORPHA:124

NCBI chr 3:197,950,190...197,956,610
Ensembl chr 3:197,950,190...197,956,610

ribosomal protein L5

NCBI chr 1:92,831,986...92,841,924
Ensembl chr 1:92,832,013...92,841,924

ribosomal protein L8

NCBI chr 8:144,789,769...144,792,390
Ensembl chr 8:144,789,765...144,792,587

ribosomal protein L9

NCBI chr 4:39,454,124...39,458,922
Ensembl chr 4:39,452,587...39,458,931

RPS10

ribosomal protein S10

IAGP

HPO

ORPHA:124

NCBI chr 6:34,417,454...34,426,069
Ensembl chr 6:34,417,454...34,426,069

RPS15A

ribosomal protein S15a

IAGP

HPO

ORPHA:124

NCBI chr16:18,781,295...18,790,334
Ensembl chr16:18,781,295...18,790,383

RPS17

ribosomal protein S17

IAGP

HPO

ORPHA:124

NCBI chr15:82,536,750...82,540,457
Ensembl chr15:82,536,750...82,540,459

RPS19

ribosomal protein S19

IAGP

HPO

MIM:105650 ORPHA:124

NCBI chr19:41,860,255...41,872,925
Ensembl chr19:41,860,255...41,872,925

RPS20

ribosomal protein S20

IAGP

HPO

ORPHA:124

NCBI chr 8:56,067,254...56,074,506
Ensembl chr 8:56,067,254...56,074,510

RPS24

ribosomal protein S24

IAGP

HPO

ORPHA:124

NCBI chr10:78,033,863...78,056,806
Ensembl chr10:78,033,760...78,056,813

RPS26

ribosomal protein S26

IAGP

HPO

ORPHA:124

NCBI chr12:56,041,918...56,044,697
Ensembl chr12:56,041,351...56,044,697

RPS27

ribosomal protein S27

IAGP

HPO

ORPHA:124

NCBI chr 1:153,990,762...153,992,155
Ensembl chr 1:153,990,762...153,992,155

RPS28

ribosomal protein S28

IAGP

HPO

ORPHA:124

NCBI chr19:8,321,496...8,323,340
Ensembl chr19:8,321,158...8,323,340

RPS29

ribosomal protein S29

IAGP

HPO

ORPHA:124

NCBI chr14:49,570,988...49,598,710
Ensembl chr14:49,570,984...49,599,164

ribosomal protein S7

NCBI chr 2:3,575,260...3,580,920
Ensembl chr 2:3,575,260...3,580,920

RAS related 2

NCBI chr11:14,277,920...14,364,506
Ensembl chr11:14,277,922...14,364,506

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

RTEL1

regulator of telomere elongation helicase 1

IAGP

HPO

ORPHA:1775 ORPHA:3322

NCBI chr20:63,657,810...63,696,253
Ensembl chr20:63,657,810...63,696,253

RUNX1

RUNX family transcription factor 1

IAGP

ClinVar Annotator: match by term: Thrombocytopenia

ClinVar
HPO

PMID:10068652 PMID:10508512 PMID:10973259 PMID:11830488 PMID:12002768 More...

MIM:601399 ORPHA:521 ORPHA:98850

NCBI chr21:34,787,801...35,049,302
Ensembl chr21:34,787,801...36,004,667

RUNX1-AS1

RUNX1 antisense RNA 1

IAGP

ClinVar Annotator: match by term: Thrombocytopenia

ClinVar

PMID:10068652 PMID:10508512 PMID:10973259 PMID:11830488 PMID:12002768 More...

NCBI chr21:34,836,313...34,885,052
Ensembl chr21:34,836,286...34,884,882

ryanodine receptor 1

NCBI chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,595,273

SALL4

spalt like transcription factor 4

IAGP

HPO

MIM:147750 ORPHA:2307

NCBI chr20:51,782,331...51,802,521
Ensembl chr20:51,782,331...51,802,521

SAMD9

sterile alpha motif domain containing 9

IAGP

HPO

MIM:617053 MIM:619041

NCBI chr 7:93,099,518...93,117,979
Ensembl chr 7:93,099,513...93,118,023

SAMD9L

sterile alpha motif domain containing 9 like

IAGP

HPO

MIM:159550 MIM:252270

NCBI chr 7:93,130,056...93,148,385
Ensembl chr 7:93,130,056...93,148,385

SAMHD1

SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1

IAGP

HPO

MIM:612952

NCBI chr20:36,889,773...36,951,708
Ensembl chr20:36,890,229...36,951,893

SARS2

seryl-tRNA synthetase 2, mitochondrial

IAGP

HPO

MIM:613845

NCBI chr19:38,915,266...38,930,763
Ensembl chr19:38,915,266...38,930,763

SAT1

spermidine/spermine N1-acetyltransferase 1

IAGP

HPO

ORPHA:93552

NCBI chr X:23,783,173...23,786,210
Ensembl chr X:23,783,173...23,786,210

SBDS

SBDS ribosome maturation factor

IAGP

HPO

MIM:260400 ORPHA:811 ORPHA:88

NCBI chr 7:66,987,680...66,995,586
Ensembl chr 7:66,987,680...66,995,693

sterol-C5-desaturase

NCBI chr11:121,292,771...121,313,410
Ensembl chr11:121,292,681...121,313,410

SCARB2

scavenger receptor class B member 2

IAGP

HPO

MIM:254900 ORPHA:77259

NCBI chr 4:76,158,737...76,234,532
Ensembl chr 4:76,158,737...76,234,536

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

SEC61A1

SEC61 translocon subunit alpha 1

IAGP

HPO

MIM:620674

NCBI chr 3:128,051,641...128,071,683
Ensembl chr 3:128,051,641...128,071,705

SEPTIN5

septin 5

IAGP

ClinVar Annotator: match by term: Thrombocytopenia

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

SERPINC1

serpin family C member 1

IAGP

ClinVar Annotator: match by term: Thrombocytopenia

ClinVar

PMID:1906811 PMID:2012760 PMID:25741868 PMID:28492532

NCBI chr 1:173,903,800...173,917,327
Ensembl chr 1:173,903,800...173,917,327

SETD4

SET domain containing 4

IAGP

ClinVar Annotator: match by term: Thrombocytopenia

ClinVar

PMID:32581362

NCBI chr21:36,034,541...36,060,526
Ensembl chr21:36,034,541...36,079,389

SF3B1

splicing factor 3b subunit 1

IAGP

HPO

ORPHA:75564

NCBI chr 2:197,389,784...197,435,093
Ensembl chr 2:197,388,515...197,435,079

SH2D1A

SH2 domain containing 1A

IAGP

HPO

MIM:308240

NCBI chr X:124,346,563...124,373,160
Ensembl chr X:124,227,868...124,373,197

SLC19A1

solute carrier family 19 member 1

IAGP

HPO

MIM:620603

NCBI chr21:45,502,517...45,563,025
Ensembl chr21:45,493,572...45,573,365

SLC19A2

solute carrier family 19 member 2

IAGP

HPO

MIM:249270 ORPHA:49827

NCBI chr 1:169,463,909...169,485,970
Ensembl chr 1:169,463,909...169,485,944

SLC20A2

solute carrier family 20 member 2

IAGP

HPO

ORPHA:1980

NCBI chr 8:42,416,475...42,541,954
Ensembl chr 8:42,416,475...42,541,926

SLC35A1

solute carrier family 35 member A1

IAGP

HPO

MIM:603585 ORPHA:238459

NCBI chr 6:87,472,974...87,512,336
Ensembl chr 6:87,470,623...87,512,336

SLC37A4

solute carrier family 37 member 4

IAGP

HPO

MIM:619525

NCBI chr11:119,024,112...119,030,877
Ensembl chr11:119,023,751...119,030,906

SLC39A7

solute carrier family 39 member 7

IAGP

HPO

MIM:619693

NCBI chr 6:33,200,867...33,204,437
Ensembl chr 6:33,200,305...33,204,439

SLC46A1

solute carrier family 46 member 1

IAGP

HPO

MIM:229050 ORPHA:90045

NCBI chr17:28,394,642...28,406,592
Ensembl chr17:28,394,642...28,407,197

SLC5A3

solute carrier family 5 member 3

IAGP

ClinVar Annotator: match by term: Thrombocytopenia

ClinVar

PMID:32581362

NCBI chr21:34,073,578...34,106,260
Ensembl chr21:34,073,578...34,106,260

SLC6A4

solute carrier family 6 member 4

severity

IAGP

DNA;polymorphism:5'utr: (rs25531) (human)

RGD

PMID:30452889

RGD:38676265

NCBI chr17:30,194,319...30,235,697
Ensembl chr17:30,194,319...30,236,002

SLC7A7

solute carrier family 7 member 7

IAGP

HPO

MIM:222700 ORPHA:470

NCBI chr14:22,773,222...22,819,791
Ensembl chr14:22,773,222...22,829,820

SLF2

SMC5-SMC6 complex localization factor 2

IAGP

HPO

MIM:620184

NCBI chr10:100,912,963...100,965,134
Ensembl chr10:100,912,963...100,965,134

SLFN14

schlafen family member 14

IAGP

ClinVar Annotator: match by term: Low platelet count
ClinVar Annotator: match by term: Thrombocytopenia

ClinVar
HPO

PMID:26280575 PMID:32581362 PMID:36790527

MIM:616913

NCBI chr17:35,543,985...35,560,819
Ensembl chr17:35,543,985...35,560,819

SLX4

SLX4 structure-specific endonuclease subunit

IAGP

HPO

ORPHA:84

NCBI chr16:3,581,181...3,611,606
Ensembl chr16:3,581,181...3,611,606

SMARCAL1

SNF2 related chromatin remodeling annealing helicase 1

IAGP

HPO

MIM:242900 ORPHA:1830

NCBI chr 2:216,412,484...216,483,053
Ensembl chr 2:216,412,383...216,483,053

SMARCD2

SWI/SNF related BAF chromatin remodeling complex subunit D2

IAGP

HPO

MIM:617475

NCBI chr17:63,832,081...63,842,685
Ensembl chr17:63,832,081...63,843,065

SMC5

structural maintenance of chromosomes 5

IAGP

HPO

MIM:620185

NCBI chr 9:70,258,978...70,354,873
Ensembl chr 9:70,258,978...70,354,873

SMIM11

small integral membrane protein 11

IAGP

ClinVar Annotator: match by term: Thrombocytopenia

ClinVar

PMID:32581362

NCBI chr21:34,375,507...34,389,151
Ensembl chr21:34,375,480...34,416,961

SMPD1

sphingomyelin phosphodiesterase 1

IAGP

HPO

MIM:607616 ORPHA:77293

NCBI chr11:6,390,474...6,394,996
Ensembl chr11:6,390,440...6,394,998

sorting nexin 10

NCBI chr 7:26,291,862...26,374,383
Ensembl chr 7:26,291,862...26,374,383

SOS1

SOS Ras/Rac guanine nucleotide exchange factor 1

IAGP

HPO

MIM:610733

NCBI chr 2:38,981,549...39,124,868
Ensembl chr 2:38,962,206...39,124,345

SP110

SP110 nuclear body protein

IAGP

HPO

ORPHA:79124

NCBI chr 2:230,165,186...230,225,636
Ensembl chr 2:230,165,186...230,225,729

SPP1

secreted phosphoprotein 1

IAGP

HPO

ORPHA:536 ORPHA:93552

NCBI chr 4:87,975,714...87,983,411
Ensembl chr 4:87,975,667...87,983,532

SRC

SRC proto-oncogene, non-receptor tyrosine kinase

IAGP

ClinVar Annotator: match by term: Thrombocytopenia

ClinVar
HPO

PMID:25741868 PMID:26936507 PMID:32581362

MIM:616937

NCBI chr20:37,344,699...37,406,050
Ensembl chr20:37,344,685...37,406,050

SRP54

signal recognition particle 54

IAGP

HPO

MIM:260400

NCBI chr14:34,982,992...35,029,567
Ensembl chr14:34,981,957...35,029,686

SRP68

signal recognition particle 68

IAGP

HPO

MIM:620534

NCBI chr17:76,038,785...76,072,517
Ensembl chr17:76,038,775...76,072,517

SRSF2

serine and arginine rich splicing factor 2

IAGP

HPO

ORPHA:98849 ORPHA:98850

NCBI chr17:76,734,115...76,737,411
Ensembl chr17:76,734,115...76,737,333

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

STAT3

signal transducer and activator of transcription 3

IAGP

HPO

ORPHA:520

NCBI chr17:42,313,324...42,388,442
Ensembl chr17:42,313,324...42,388,568

STAT4

signal transducer and activator of transcription 4

IAGP

HPO

ORPHA:536 ORPHA:93552

NCBI chr 2:191,029,576...191,151,596
Ensembl chr 2:191,029,576...191,178,435

STAT5B

signal transducer and activator of transcription 5B

IAGP

HPO

ORPHA:520

NCBI chr17:42,199,177...42,288,370
Ensembl chr17:42,199,176...42,288,633

STIM1

stromal interaction molecule 1

IAGP

HPO

MIM:185070

NCBI chr11:3,854,604...4,093,210
Ensembl chr11:3,854,527...4,093,210

storkhead box 1

NCBI chr10:68,827,531...68,895,432
Ensembl chr10:68,827,531...68,895,432

STT3B

STT3 oligosaccharyltransferase complex catalytic subunit B

IAGP

HPO

MIM:615597 ORPHA:370924

NCBI chr 3:31,532,925...31,637,616
Ensembl chr 3:31,532,638...31,638,548

syntaxin 11

NCBI chr 6:144,139,963...144,191,939
Ensembl chr 6:144,150,487...144,191,939

STXBP2

syntaxin binding protein 2

IAGP

ClinVar Annotator: match by term: Low platelet count
ClinVar Annotator: match by term: Thrombocytopenia

ClinVar
HPO

PMID:24916509 PMID:25741868 PMID:28399723 PMID:28492532 PMID:32256442 More...

MIM:613101 ORPHA:540

NCBI chr19:7,629,793...7,647,873
Ensembl chr19:7,636,772...7,647,873

TALDO1

transaldolase 1

IAGP

HPO

MIM:606003 ORPHA:101028

NCBI chr11:747,464...765,012
Ensembl chr11:747,415...765,012

TBL1X/Y related 1

NCBI chr 3:177,019,344...177,201,800
Ensembl chr 3:177,019,340...177,228,000

TBX1

T-box transcription factor 1

IAGP

HPO

MIM:188400 ORPHA:567

NCBI chr22:19,756,703...19,783,593
Ensembl chr22:19,756,703...19,783,593

TBXAS1

thromboxane A synthase 1

IAGP

ClinVar Annotator: match by term: Thrombocytopenia

ClinVar
HPO

PMID:28492532

MIM:231095

NCBI chr 7:139,778,242...140,020,293
Ensembl chr 7:139,777,051...140,020,325

TCIRG1

T cell immune regulator 1, ATPase H+ transporting V0 subunit a3

IAGP

HPO

MIM:259700 ORPHA:210110

NCBI chr11:68,039,025...68,053,762
Ensembl chr11:68,039,025...68,050,895

transcobalamin 2

NCBI chr22:30,607,174...30,627,271
Ensembl chr22:30,607,003...30,627,271

TERC

telomerase RNA component

IAGP

HPO

MIM:127550 ORPHA:1775 ORPHA:88

NCBI chr 3:169,764,610...169,765,060
Ensembl chr 3:169,764,610...169,765,047
Ensembl chr 3:169,764,610...169,765,047

TERT

telomerase reverse transcriptase

IAGP

HPO

MIM:127550 MIM:613989 ORPHA:1775 ORPHA:3322 ORPHA:88

NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068

TET2

tet methylcytosine dioxygenase 2

IAGP

HPO

ORPHA:75564 ORPHA:824 ORPHA:98826 ORPHA:98849 ORPHA:98850

NCBI chr 4:105,145,875...105,279,803
Ensembl chr 4:105,145,875...105,279,816

THBD

thrombomodulin

IAGP

ClinVar Annotator: match by term: Thrombocytopenia

HPO
ClinVar

PMID:10102456 PMID:11552992 PMID:11986219 PMID:19625716 PMID:20595690 More...

MIM:612926

NCBI chr20:23,045,633...23,049,672
Ensembl chr20:23,045,633...23,049,672

THPO

thrombopoietin

IAGP

ClinVar Annotator: match by term: Thrombocytopenia

ClinVar
HPO

PMID:25741868 PMID:28466964 PMID:28559357 PMID:31064749 PMID:32150607

MIM:620478 MIM:620481 ORPHA:3319

NCBI chr 3:184,371,935...184,379,688
Ensembl chr 3:184,371,935...184,381,968

TINF2

TERF1 interacting nuclear factor 2

IAGP

HPO

MIM:127550 MIM:613990 ORPHA:1775 ORPHA:3322

NCBI chr14:24,239,640...24,242,674
Ensembl chr14:24,238,286...24,242,663

toll like receptor 7

NCBI chr X:12,867,072...12,890,361
Ensembl chr X:12,867,072...12,890,361

toll like receptor 8

NCBI chr X:12,906,620...12,923,169
Ensembl chr X:12,906,620...12,923,169

TMEM165

transmembrane protein 165

IAGP

HPO

MIM:614727

NCBI chr 4:55,395,957...55,453,397
Ensembl chr 4:55,395,957...55,453,397

TNFAIP3

TNF alpha induced protein 3

IAGP

HPO

MIM:616744 ORPHA:536

NCBI chr 6:137,866,349...137,883,312
Ensembl chr 6:137,867,214...137,883,314

TNFSF11

TNF superfamily member 11

IAGP

HPO

MIM:259710

NCBI chr13:42,562,736...42,608,013
Ensembl chr13:42,562,736...42,608,013

TNFSF4

TNF superfamily member 4

IAGP

HPO

ORPHA:536

NCBI chr 1:173,172,870...173,450,733
Ensembl chr 1:173,162,645...173,477,583

TNIP1

TNFAIP3 interacting protein 1

IAGP

HPO

ORPHA:536

NCBI chr 5:151,029,943...151,087,685
Ensembl chr 5:151,029,945...151,093,577

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

tropomyosin 4

NCBI chr19:16,067,538...16,103,002
Ensembl chr19:16,067,021...16,103,005

TPP2

tripeptidyl peptidase 2

IAGP

ClinVar Annotator: match by term: Low platelet count

ClinVar

PMID:33586135

NCBI chr13:102,596,986...102,679,958
Ensembl chr13:102,596,958...102,679,958

TREX1

three prime repair exonuclease 1

IAGP

HPO

MIM:152700 MIM:225750 ORPHA:536

NCBI chr 3:48,465,830...48,467,645
Ensembl chr 3:48,465,811...48,467,645

TRNT1

tRNA nucleotidyl transferase 1

IAGP

HPO

MIM:616959

NCBI chr 3:3,126,940...3,153,435
Ensembl chr 3:3,126,933...3,153,435

TSR2

TSR2 ribosome maturation factor

IAGP

HPO

ORPHA:124

NCBI chr X:54,440,404...54,448,032
Ensembl chr X:54,440,404...54,448,032

TUBB1

tubulin beta 1 class VI

IAGP

ClinVar Annotator: match by term: Thrombocytopenia

ClinVar

PMID:18849486 PMID:24777453 PMID:25741868 PMID:27346686 PMID:27479822 More...

NCBI chr20:59,016,438...59,026,654
Ensembl chr20:59,019,429...59,026,654

TYMS

thymidylate synthetase

IAGP

HPO

ORPHA:1775

NCBI chr18:657,653...673,578
Ensembl chr18:657,653...673,578

UBA1

ubiquitin like modifier activating enzyme 1

IAGP

HPO

MIM:301054

NCBI chr X:47,190,847...47,215,128
Ensembl chr X:47,190,861...47,215,128

UBE2L3

ubiquitin conjugating enzyme E2 L3

IAGP

HPO

ORPHA:536

NCBI chr22:21,549,447...21,624,034
Ensembl chr22:21,549,447...21,624,034

UBE2T

ubiquitin conjugating enzyme E2 T

IAGP

HPO

MIM:616435 ORPHA:84

NCBI chr 1:202,331,657...202,341,936
Ensembl chr 1:202,331,544...202,341,984

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

unc-13 homolog D

NCBI chr17:75,827,225...75,844,404
Ensembl chr17:75,827,225...75,844,785

UQCRFS1

ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1

IAGP

HPO

MIM:618775

NCBI chr19:29,205,320...29,213,151
Ensembl chr19:29,205,320...29,213,151

UROS

uroporphyrinogen III synthase

IAGP

HPO

MIM:263700 ORPHA:79277

NCBI chr10:125,784,980...125,823,258
Ensembl chr10:125,784,980...125,823,288

USB1

U6 snRNA biogenesis phosphodiesterase 1

IAGP

HPO

ORPHA:1775

NCBI chr16:57,999,603...58,021,618
Ensembl chr16:57,999,546...58,021,618

USP18

ubiquitin specific peptidase 18

IAGP

HPO

MIM:617397

NCBI chr22:18,150,170...18,177,397
Ensembl chr22:18,149,843...18,177,397

VPS33A

VPS33A core subunit of CORVET and HOPS complexes

IAGP

HPO

MIM:617303 ORPHA:505248

NCBI chr12:122,229,564...122,266,494
Ensembl chr12:122,229,564...122,266,502

VPS33B

VPS33B late endosome and lysosome associated

IAGP

ClinVar Annotator: match by term: Thrombocytopenia

HPO
ClinVar

PMID:28492532

MIM:208085

NCBI chr15:90,998,416...91,022,621
Ensembl chr15:90,998,673...91,022,603

VPS45

vacuolar protein sorting 45 homolog

IAGP

HPO

MIM:615285

NCBI chr 1:150,067,382...150,145,329
Ensembl chr 1:150,067,279...150,145,329

VWF

von Willebrand factor

IAGP

ClinVar Annotator: match by term: Low platelet count
ClinVar Annotator: match by term: Thrombocytopenia

ClinVar
HPO

PMID:1581215 PMID:1832934 PMID:1906877 PMID:1918030 PMID:3259690 More...

MIM:277480 MIM:613554

NCBI chr12:5,948,877...6,124,670
Ensembl chr12:5,948,877...6,124,770

WARS2

tryptophanyl tRNA synthetase 2, mitochondrial

IAGP

HPO

MIM:617710 ORPHA:572798

NCBI chr 1:119,031,216...119,140,672
Ensembl chr 1:119,031,216...119,140,654

WAS

WASP actin nucleation promoting factor

IAGP

ClinVar Annotator: match by term: Thrombocytopenia

ClinVar
HPO

PMID:7753869 PMID:8666397 PMID:8757563 PMID:9326235 PMID:11167787 More...

MIM:301000 ORPHA:906

NCBI chr X:48,676,636...48,691,427
Ensembl chr X:48,676,596...48,691,431

WFS1

wolframin ER transmembrane glycoprotein

IAGP

HPO

MIM:222300

NCBI chr 4:6,269,850...6,303,265
Ensembl chr 4:6,269,849...6,303,265

WIPF1

WAS/WASL interacting protein family member 1

IAGP

HPO

MIM:614493 ORPHA:906

NCBI chr 2:174,559,574...174,682,913
Ensembl chr 2:174,559,572...174,682,916

WRAP53

WD repeat containing antisense to TP53

IAGP

HPO

ORPHA:1775

NCBI chr17:7,686,071...7,703,502
Ensembl chr17:7,686,071...7,703,502

XDH

xanthine dehydrogenase

IAGP

ClinVar Annotator: match by term: Thrombocytopenia

ClinVar

PMID:25741868 PMID:28492532 PMID:30755392

NCBI chr 2:31,334,321...31,414,742
Ensembl chr 2:31,334,321...31,414,742

XIAP

X-linked inhibitor of apoptosis

IAGP

HPO

MIM:308240

NCBI chr X:123,859,708...123,913,972
Ensembl chr X:123,859,712...123,913,972

XPR1

xenotropic and polytropic retrovirus receptor 1

IAGP

HPO

ORPHA:1980

NCBI chr 1:180,632,022...180,890,279
Ensembl chr 1:180,632,022...180,890,279

XRCC1

X-ray repair cross complementing 1

susceptibility

IAGP

DNA:missense mutations:cds: p.R399Q (human)

RGD

PMID:22982660

RGD:151347428

NCBI chr19:43,543,311...43,575,527
Ensembl chr19:43,543,311...43,580,473

XRCC2

X-ray repair cross complementing 2

IAGP

HPO

ORPHA:84

NCBI chr 7:152,644,776...152,676,141
Ensembl chr 7:152,644,776...152,676,193

ZBTB16

zinc finger and BTB domain containing 16

IAGP

HPO

ORPHA:520

NCBI chr11:114,059,711...114,256,770
Ensembl chr11:114,059,041...114,256,765

ZNFX1

zinc finger NFX1-type containing 1

IAGP

HPO

MIM:619644

NCBI chr20:49,245,900...49,278,057
Ensembl chr20:49,237,946...49,278,426

Thrombocytosis

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

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

ACAT1

acetyl-CoA acetyltransferase 1

IAGP

HPO

ORPHA:134

NCBI chr11:108,116,705...108,147,603
Ensembl chr11:108,116,695...108,148,957

ADA2

adenosine deaminase 2

IAGP

HPO

MIM:615688 ORPHA:124

NCBI chr22:17,178,790...17,221,848
Ensembl chr22:17,178,790...17,258,235

ASL

argininosuccinate lyase

IAGP

HPO

ORPHA:23

NCBI chr 7:66,075,819...66,093,576
Ensembl chr 7:66,075,800...66,094,697

ATP6V1B2

ATPase H+ transporting V1 subunit B2

IAGP

HPO

ORPHA:79500

NCBI chr 8:20,197,381...20,221,696
Ensembl chr 8:20,197,381...20,230,399

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

CALR

calreticulin

IAGP

HPO

MIM:187950 ORPHA:3318 ORPHA:824

NCBI chr19:12,938,609...12,944,489
Ensembl chr19:12,938,578...12,944,489

CD55

CD55 molecule (Cromer blood group)

IAGP

HPO

MIM:226300

NCBI chr 1:207,321,678...207,360,966
Ensembl chr 1:207,321,519...207,386,804

ELANE

elastase, neutrophil expressed

IAGP

HPO

MIM:202700

NCBI chr19:852,303...856,243
Ensembl chr19:851,014...856,247

ELF4

E74 like ETS transcription factor 4

IAGP

HPO

MIM:301074

NCBI chr X:130,063,955...130,111,927
Ensembl chr X:130,063,955...130,110,716

GATA1

GATA binding protein 1

IAGP

HPO

ORPHA:124

NCBI chr X:48,786,590...48,794,311
Ensembl chr X:48,786,540...48,794,311

HBB

hemoglobin subunit beta

IAGP

HPO

ORPHA:232

NCBI chr11:5,225,464...5,227,071
Ensembl chr11:5,225,464...5,229,395

HEATR3

HEAT repeat containing 3

IAGP

HPO

ORPHA:124

NCBI chr16:50,065,970...50,107,272
Ensembl chr16:50,065,967...50,107,272

HLA-DQA1

major histocompatibility complex, class II, DQ alpha 1

IAGP

HPO

MIM:212750

NCBI chr 6:32,637,406...32,655,272
Ensembl chr 6:32,628,179...32,647,062

HLA-DQB1

major histocompatibility complex, class II, DQ beta 1

IAGP

HPO

MIM:212750

NCBI chr 6:32,659,467...32,666,657
Ensembl chr 6:32,659,467...32,668,383

HMGCL

3-hydroxy-3-methylglutaryl-CoA lyase

IAGP

HPO

ORPHA:20

NCBI chr 1:23,801,885...23,825,429
Ensembl chr 1:23,801,885...23,838,620

heme oxygenase 1

NCBI chr22:35,381,096...35,394,207
Ensembl chr22:35,380,361...35,394,214

interferon gamma

NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740

IFNGR1

interferon gamma receptor 1

IAGP

HPO

MIM:209950

NCBI chr 6:137,197,484...137,219,385
Ensembl chr 6:137,197,483...137,219,449

JAK2

Janus kinase 2

IAGP

HPO

MIM:263300 MIM:614521 ORPHA:3318 ORPHA:71493 ORPHA:729 ORPHA:824

NCBI chr 9:4,984,390...5,129,948
Ensembl chr 9:4,984,390...5,129,948

KCNN4

potassium calcium-activated channel subfamily N member 4

IAGP

HPO

MIM:616689

NCBI chr19:43,766,533...43,780,973
Ensembl chr19:43,766,533...43,780,976

LACC1

laccase domain containing 1

IAGP

HPO

MIM:618795

NCBI chr13:43,879,178...43,893,932
Ensembl chr13:43,879,284...43,893,932

MARS1

methionyl-tRNA synthetase 1

IAGP

HPO

MIM:615486

NCBI chr12:57,488,068...57,516,652
Ensembl chr12:57,475,445...57,517,569

MPL

MPL proto-oncogene, thrombopoietin receptor

IAGP

DNA:missense mutation:cds:pS505N

HPO
RGD

PMID:14764528

MIM:601977 ORPHA:3318 ORPHA:71493 ORPHA:729 ORPHA:824, RGD:10449014

NCBI chr 1:43,337,818...43,354,466
Ensembl chr 1:43,337,818...43,354,466

MTHFD1

methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1

IAGP

HPO

MIM:617780

NCBI chr14:64,388,353...64,460,025
Ensembl chr14:64,388,031...64,463,457

PCDHA1

protocadherin alpha 1

IAGP

ClinVar Annotator: match by term: Thrombocytosis

ClinVar

PMID:25741868

NCBI chr 5:140,786,136...141,012,347
Ensembl chr 5:140,786,136...141,012,347

PCDHA10

protocadherin alpha 10

IAGP

ClinVar Annotator: match by term: Thrombocytosis

ClinVar

PMID:25741868

NCBI chr 5:140,855,897...141,012,347
Ensembl chr 5:140,855,883...141,012,347

PCDHA2

protocadherin alpha 2

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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HUMAN PHENOTYPE - ANNOTATIONS