hemorrhagic disease - Ontology Report - Rat Genome Database

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RGD DISEASE ONTOLOGY - ANNOTATIONS

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RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:	hemorrhagic disease	go back to main search page
Accession:	DOID:2213	browse the term
Definition:	Spontaneous or near spontaneous bleeding caused by a defect in clotting mechanisms (BLOOD COAGULATION DISORDERS) or another abnormality causing a structural flaw in the blood vessels (HEMOSTATIC DISORDERS).
Synonyms:	exact_synonym:	ABNORMAL BLEEDING; hemorrhagic diatheses; hemorrhagic diathesis; hemorrhagic disorder; hemorrhagic disorders
	primary_id:	MESH:D006474
	xref:	ICD10CM:D69.9; ICD9CM:287.9; MONDO:0002243
For additional species annotation, visit the Alliance of Genome Resources.

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Genes (884)

hemorrhagic disease

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily G member 5

ClinVar Annotator: match by term: Abnormal bleeding

NCBI chr2A:43,896,188...43,922,756
Ensembl chr2A:44,745,183...44,771,012

G

ATP binding cassette subfamily G member 8

ClinVar Annotator: match by term: Abnormal bleeding

PMID:25741868 PMID:28492532 PMID:32935436

NCBI chr2A:43,922,787...43,966,678
Ensembl chr2A:44,771,247...44,904,830

G

actinin alpha 1

ClinVar Annotator: match by term: Abnormal bleeding

PMID:25741868 PMID:31064749

NCBI chr14:49,460,390...49,565,986
Ensembl chr14:68,335,694...68,440,836

G

activin A receptor like type 1

ClinVar Annotator: match by term: Abnormal bleeding

PMID:20501893 PMID:24033266 PMID:25741868 PMID:28492532

NCBI chr12:36,839,869...36,856,351
Ensembl chr12:37,615,888...37,631,691

G

ADAM metallopeptidase with thrombospondin type 1 motif 13

ClinVar Annotator: match by term: Abnormal bleeding

NCBI chr 9:104,541,051...104,582,574
Ensembl chr 9:133,156,761...133,193,707

G

ankyrin repeat domain containing 26

ClinVar Annotator: match by term: Abnormal bleeding

PMID:25741868 PMID:28492532

NCBI chr10:27,111,909...27,210,001
Ensembl chr10:27,478,452...27,572,261

G

adaptor related protein complex 3 subunit beta 1

ClinVar Annotator: match by term: Abnormal bleeding

PMID:25741868 PMID:28492532 PMID:32935436

NCBI chr 5:37,015,518...37,305,769
Ensembl chr 5:37,503,162...37,840,205

G

adaptor related protein complex 3 subunit delta 1

ClinVar Annotator: match by term: Abnormal bleeding

PMID:25741868 PMID:28492532 PMID:32935436 PMID:36430862

NCBI chr19:1,110,419...1,161,826
Ensembl chr19:2,085,540...2,137,593

G

actin related protein 2/3 complex subunit 1B

ClinVar Annotator: match by term: Abnormal bleeding

PMID:25741868 PMID:28492532

NCBI chr 7:91,348,120...91,368,299
Ensembl chr 7:104,861,582...104,870,369

G

ARVCF delta catenin family member

ClinVar Annotator: match by term: Abnormal bleeding

PMID:25741868 PMID:31064749

NCBI chr22:2,729,706...2,779,034
Ensembl chr22:18,403,239...18,449,183

G

collagen type I alpha 1 chain

ClinVar Annotator: match by term: Abnormal bleeding

PMID:25741868 PMID:31064749

NCBI chr17:44,274,349...44,291,764
Ensembl chr17:49,150,677...49,166,677

G

collagen type V alpha 1 chain

ClinVar Annotator: match by term: Abnormal bleeding

PMID:25741868 PMID:28492532 PMID:31064749 PMID:32938213

NCBI chr 9:105,746,388...105,956,280
Ensembl chr 9:134,342,955...134,544,651

G

collagen type V alpha 2 chain

ClinVar Annotator: match by term: Abnormal bleeding

PMID:25741868 PMID:28492532

NCBI chr2B:76,339,756...76,487,133
Ensembl chr2B:194,259,316...194,407,237

G

catechol-O-methyltransferase

ClinVar Annotator: match by term: Abnormal bleeding

PMID:25741868 PMID:31064749

NCBI chr22:2,704,015...2,731,326
Ensembl chr22:18,375,434...18,402,387

G

DiGeorge syndrome critical region gene 6 like

ClinVar Annotator: match by term: Abnormal bleeding

PMID:25741868 PMID:31064749

G

DGCR8 microprocessor complex subunit

ClinVar Annotator: match by term: Abnormal bleeding

PMID:25741868 PMID:31064749

NCBI chr22:2,841,041...2,872,325
Ensembl chr22:18,518,783...18,544,740

G

dynein cytoplasmic 2 light intermediate chain 1

ClinVar Annotator: match by term: Abnormal bleeding

NCBI chr2A:43,858,368...43,912,262
Ensembl chr2A:44,706,777...44,742,724

G

ETS variant transcription factor 6

ClinVar Annotator: match by term: Abnormal bleeding

NCBI chr12:11,675,955...11,920,913
Ensembl chr12:11,844,939...12,179,537

G

coagulation factor X

ClinVar Annotator: match by term: Abnormal bleeding

PMID:7669671 PMID:25582404 PMID:25741868 PMID:26879396 PMID:31064749

NCBI chr13:94,263,202...94,289,612
Ensembl chr13:113,332,124...113,358,660

G

coagulation factor XI

ClinVar Annotator: match by term: Abnormal bleeding

PMID:2052060 PMID:2813350 PMID:9326232 PMID:10593931 PMID:11122101 More...

NCBI chr 4:178,436,865...178,459,568
Ensembl chr 4:190,643,733...190,666,512

G

coagulation factor XIII A chain

ClinVar Annotator: match by term: Abnormal bleeding

NCBI chr 6:5,978,505...6,156,705
Ensembl chr 6:6,157,926...6,513,961

G

coagulation factor V

ClinVar Annotator: match by term: Abnormal bleeding

PMID:25741868 PMID:28492532 PMID:31064749 PMID:34355501

NCBI chr 1:144,996,757...145,070,046
Ensembl chr 1:148,718,897...148,790,915

G

coagulation factor VII

ClinVar Annotator: match by term: Abnormal bleeding

PMID:7919338 PMID:7981691 PMID:10862079 PMID:11931672 PMID:15456489 More...

NCBI chr13:94,246,694...94,261,133
Ensembl chr13:113,315,868...113,329,995

G

coagulation factor VIII

ClinVar Annotator: match by term: Abnormal bleeding

PMID:25741868 PMID:31064749

NCBI chr X:144,316,192...144,505,773
Ensembl chr X:154,156,873...154,341,317

G

fibrinogen alpha chain

ClinVar Annotator: match by term: Abnormal bleeding

PMID:2738154 PMID:3345340 PMID:3590111 PMID:3618591 PMID:4052020 More...

NCBI chr 4:146,949,680...146,957,291

G

fibrinogen beta chain

ClinVar Annotator: match by term: Abnormal bleeding

PMID:10688828 PMID:19420351 PMID:20978265 PMID:24033266 PMID:25741868 More...

NCBI chr 4:146,929,561...146,937,665
Ensembl chr 4:158,747,659...158,755,766

G

fibrinogen gamma chain

ClinVar Annotator: match by term: Abnormal bleeding

PMID:10688828 PMID:15795540 PMID:17938819 PMID:19300242 PMID:20135062 More...

NCBI chr 4:146,970,671...146,979,348
Ensembl chr 4:158,788,966...158,797,237

G

Fli-1 proto-oncogene, ETS transcription factor

ClinVar Annotator: match by term: Abnormal bleeding

PMID:24100448 PMID:32581362

NCBI chr11:123,506,859...123,626,024
Ensembl chr11:127,409,301...127,530,312

G

filamin A

ClinVar Annotator: match by term: Abnormal bleeding

PMID:25741868 PMID:26467025 PMID:28492532

NCBI chr X:143,799,088...143,825,282

G

glucosylceramidase beta 1

ClinVar Annotator: match by term: Abnormal bleeding

PMID:1348297 PMID:1897529 PMID:1899336 PMID:1971142 PMID:2117855 More...

NCBI chr 1:130,579,300...130,589,560
Ensembl chr 1:134,185,385...134,194,851

G

growth factor independent 1B transcriptional repressor

ClinVar Annotator: match by term: Abnormal bleeding

NCBI chr 9:104,061,236...104,113,208
Ensembl chr 9:132,692,343...132,742,326

G

gamma-glutamyl carboxylase

ClinVar Annotator: match by term: Abnormal bleeding

PMID:25741868 PMID:28492532 PMID:32935436

NCBI chr2A:85,599,227...85,612,274
Ensembl chr2A:87,152,111...87,164,567

G

GNAS complex locus

CTD Direct Evidence: marker/mechanism

NCBI chr20:55,190,607...55,262,245

G

G protein subunit beta 1 like

ClinVar Annotator: match by term: Abnormal bleeding

PMID:25741868 PMID:31064749

NCBI chr22:2,542,925...2,616,201
Ensembl chr22:18,222,195...18,289,580

G

glycoprotein Ib platelet subunit alpha

ClinVar Annotator: match by term: Abnormal bleeding

NCBI chr17:4,980,083...4,983,219

G

glycoprotein Ib platelet subunit beta

ClinVar Annotator: match by term: Abnormal bleeding

PMID:25741868 PMID:31064749

NCBI chr22:2,485,350...2,486,688

G

glycoprotein VI platelet

ClinVar Annotator: match by term: Abnormal bleeding

PMID:19549989 PMID:23815599 PMID:25741868 PMID:28492532 PMID:29232918 More...

NCBI chr19:52,051,138...52,071,673
Ensembl chr19:60,746,578...60,770,643

G

homeobox A11

ClinVar Annotator: match by term: Abnormal bleeding

NCBI chr 7:27,826,003...27,829,757
Ensembl chr 7:27,424,759...27,429,103

G

HPS3 biogenesis of lysosomal organelles complex 2 subunit 1

ClinVar Annotator: match by term: Abnormal bleeding

NCBI chr 3:146,147,140...146,190,793
Ensembl chr 3:153,725,008...153,769,060

G

HPS5 biogenesis of lysosomal organelles complex 2 subunit 2

ClinVar Annotator: match by term: Abnormal bleeding

PMID:24033266 PMID:25741868 PMID:28492532

NCBI chr11:18,313,846...18,357,558
Ensembl chr11:17,999,116...18,042,724

G

HPS6 biogenesis of lysosomal organelles complex 2 subunit 3

ClinVar Annotator: match by term: Abnormal bleeding

NCBI chr10:98,670,168...98,672,896
Ensembl chr10:102,139,439...102,141,766

G

histidine rich glycoprotein

ClinVar Annotator: match by term: Abnormal bleeding

NCBI chr 3:183,701,069...183,712,365
Ensembl chr 3:192,168,299...192,180,539

G

integrin subunit alpha 2b

ClinVar Annotator: match by term: Abnormal bleeding

NCBI chr17:13,009,514...13,027,289
Ensembl chr17:13,176,843...13,193,269

G

integrin subunit beta 3

ClinVar Annotator: match by term: Abnormal bleeding

PMID:25741868 PMID:28492532 PMID:31064749

NCBI chr17:10,134,450...10,194,596
Ensembl chr17:10,353,111...10,392,382

G

kelch like family member 22

ClinVar Annotator: match by term: Abnormal bleeding

PMID:25741868 PMID:31064749

Ensembl chr22:19,122,875...19,174,842

G

kallikrein B1

ClinVar Annotator: match by term: Abnormal bleeding

NCBI chr 4:178,398,359...178,429,448
Ensembl chr 4:190,604,901...190,636,300

G

plasminogen

ClinVar Annotator: match by term: Abnormal bleeding

PMID:25741868 PMID:28492532 PMID:34355501

NCBI chr 6:158,662,192...158,713,413
Ensembl chr 6:163,673,464...163,736,777

G

cytochrome c

ClinVar Annotator: match by term: Abnormal bleeding

NCBI chr 7:25,784,900...25,791,598
Ensembl chr 7:25,396,013...25,398,549

G

putative ubiquitin carboxyl-terminal hydrolase 41

ClinVar Annotator: match by term: Abnormal bleeding

PMID:25741868 PMID:31064749

G

lipoprotein(a)

ClinVar Annotator: match by term: Abnormal bleeding

NCBI chr 6:158,434,394...158,628,028

G

lysosomal trafficking regulator

ClinVar Annotator: match by term: Abnormal bleeding

PMID:9215679 PMID:11857544 PMID:25741868 PMID:28492532 PMID:32935436

NCBI chr 1:211,229,800...211,451,947
Ensembl chr 1:216,231,824...216,436,293

G

multiple coagulation factor deficiency 2, ER cargo receptor complex subunit

ClinVar Annotator: match by term: Abnormal bleeding

NCBI chr2A:47,012,550...47,031,725
Ensembl chr2A:47,950,679...47,987,407

G

MDS1 and EVI1 complex locus

ClinVar Annotator: match by term: Abnormal bleeding

PMID:28492532 PMID:32935436

NCBI chr 3:166,099,530...166,677,739
Ensembl chr 3:174,154,814...174,731,252

G

mediator complex subunit 12L

ClinVar Annotator: match by term: Abnormal bleeding

NCBI chr 3:148,115,501...148,463,846
Ensembl chr 3:155,686,214...156,031,094

G

mediator complex subunit 15

ClinVar Annotator: match by term: Abnormal bleeding

PMID:25741868 PMID:31064749

Ensembl chr22:19,192,156...19,271,965

G

megakaryocyte and platelet inhibitory receptor G6b

ClinVar Annotator: match by term: Abnormal bleeding

NCBI chr 6:31,384,220...31,388,071
Ensembl chr 6:32,273,438...32,276,772

G

MPL proto-oncogene, thrombopoietin receptor

ClinVar Annotator: match by term: Abnormal bleeding

PMID:11972523 PMID:16470591 PMID:21659346 PMID:24728327 PMID:25741868 More...

NCBI chr 1:42,639,191...42,654,738
Ensembl chr 1:44,018,395...44,034,492

G

myosin heavy chain 9

ClinVar Annotator: match by term: Abnormal bleeding

PMID:10739770 PMID:10973259 PMID:10973260 PMID:11159552 PMID:11590545 More...

NCBI chr22:17,200,623...17,305,826
Ensembl chr22:35,039,101...35,121,618

G

neurobeachin

ClinVar Annotator: match by term: Abnormal bleeding

NCBI chr13:16,182,613...16,891,082
Ensembl chr13:34,614,820...35,322,521

G

neurobeachin like 2

ClinVar Annotator: match by term: Abnormal bleeding

PMID:25741868 PMID:28492532

NCBI chr 3:46,879,867...46,909,901
Ensembl chr 3:47,987,142...48,010,766

G

purinergic receptor P2Y12

ClinVar Annotator: match by term: Abnormal bleeding

NCBI chr 3:148,364,151...148,412,231

G

PCI domain containing 2

ClinVar Annotator: match by term: Abnormal bleeding

NCBI chr13:94,319,699...94,350,763
Ensembl chr13:113,388,251...113,419,251

G

phosphatidylinositol 4-kinase alpha

ClinVar Annotator: match by term: Abnormal bleeding

PMID:25741868 PMID:31064749

NCBI chr22:2,931,523...3,082,475

G

plasminogen activator, tissue type

ClinVar Annotator: match by term: Abnormal bleeding

NCBI chr 8:41,419,415...41,451,951
Ensembl chr 8:38,864,918...38,897,779

G

protein S

ClinVar Annotator: match by term: Abnormal bleeding

PMID:8943854 PMID:9651142 PMID:20880255 PMID:25741868 PMID:28492532 More...

NCBI chr 3:90,934,641...91,039,059
Ensembl chr 3:97,615,734...97,718,756

G

protein Z, vitamin K dependent plasma glycoprotein

ClinVar Annotator: match by term: Abnormal bleeding

NCBI chr13:94,294,846...94,314,458
Ensembl chr13:113,364,280...113,383,010

G

protein tyrosine phosphatase non-receptor type 11

ClinVar Annotator: match by term: Abnormal bleeding

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

NCBI chr12:110,016,364...110,107,462
Ensembl chr12:113,435,669...113,503,762

G

RAN binding protein 1

ClinVar Annotator: match by term: Abnormal bleeding

PMID:25741868 PMID:31064749

NCBI chr22:2,877,954...2,888,035
Ensembl chr22:18,549,055...18,560,573

G

RAS guanyl releasing protein 2

ClinVar Annotator: match by term: Abnormal bleeding

PMID:25741868 PMID:28983057 PMID:31064749

NCBI chr11:60,081,781...60,101,400
Ensembl chr11:63,423,112...63,440,917

G

retrotransposon Gag like 10

ClinVar Annotator: match by term: Abnormal bleeding

PMID:25741868 PMID:31064749

NCBI chr22:2,607,363...2,616,113

G

reticulon 4 receptor

ClinVar Annotator: match by term: Abnormal bleeding

PMID:25741868 PMID:31064749

Ensembl chr22:18,673,548...18,680,017

G

scavenger receptor class F member 2

ClinVar Annotator: match by term: Abnormal bleeding

PMID:25741868 PMID:31064749

G

septin 5

ClinVar Annotator: match by term: Abnormal bleeding

PMID:25741868 PMID:31064749

NCBI chr22:2,476,400...2,485,225
Ensembl chr22:18,150,865...18,159,697

G

serpin family C member 1

ClinVar Annotator: match by term: Abnormal bleeding

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

NCBI chr 1:149,421,737...149,435,301
Ensembl chr 1:153,126,031...153,139,369

G

serpin family D member 1

ClinVar Annotator: match by term: Abnormal bleeding

PMID:25741868 PMID:31064749

NCBI chr22:2,997,480...3,011,469
Ensembl chr22:19,488,733...19,502,380

G

serpin family E member 1

ClinVar Annotator: match by term: Abnormal bleeding

PMID:25741868 PMID:31064749

NCBI chr 7:93,267,517...93,279,728
Ensembl chr 7:106,510,130...106,518,450

G

serpin family F member 2

ClinVar Annotator: match by term: Abnormal bleeding

PMID:25741868 PMID:31064749

NCBI chr17:1,725,469...1,738,887
Ensembl chr17:1,618,549...1,631,570

G

solute carrier family 45 member 2

ClinVar Annotator: match by term: Abnormal bleeding

PMID:28492532 PMID:29345414

NCBI chr 5:76,357,549...76,398,571
Ensembl chr 5:81,743,254...81,784,565

G

schlafen family member 14

ClinVar Annotator: match by term: Abnormal bleeding

PMID:26280575 PMID:32581362 PMID:36790527

NCBI chr17:21,232,934...21,250,368
Ensembl chr17:21,530,009...21,539,589

G

SMAD family member 4

ClinVar Annotator: match by term: Abnormal bleeding

NCBI chr18:44,402,112...44,456,779
Ensembl chr18:47,764,568...47,797,359

G

syntaxin binding protein 2

ClinVar Annotator: match by term: Abnormal bleeding

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

NCBI chr19:6,926,833...6,937,385
Ensembl chr19:7,781,830...7,792,038

G

transport and golgi organization 2 homolog

ClinVar Annotator: match by term: Abnormal bleeding

PMID:25741868 PMID:31064749

NCBI chr22:2,779,217...2,826,445
Ensembl chr22:18,449,387...18,497,886

G

T-box transcription factor 1

ClinVar Annotator: match by term: Abnormal bleeding

PMID:25741868 PMID:31064749

NCBI chr22:2,521,080...2,541,267

G

thromboxane A2 receptor

CTD Direct Evidence: marker/mechanism

NCBI chr19:2,621,606...2,632,800
Ensembl chr19:3,570,290...3,581,924

G

thromboxane A synthase 1

ClinVar Annotator: match by term: Abnormal bleeding

NCBI chr 7:131,772,947...131,958,647
Ensembl chr 7:144,255,211...144,439,523

G

thrombomodulin

ClinVar Annotator: match by term: Abnormal bleeding

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

NCBI chr20:22,992,341...22,996,415
Ensembl chr20:23,345,917...23,347,812

G

thrombopoietin

ClinVar Annotator: match by term: Abnormal bleeding

PMID:25741868 PMID:31064749 PMID:32150607

NCBI chr 3:181,409,038...181,416,986
Ensembl chr 3:189,891,025...189,897,429

G

tropomyosin 4

ClinVar Annotator: match by term: Abnormal bleeding

NCBI chr19:15,557,683...15,593,143
Ensembl chr19:16,540,805...16,575,312

G

tRNA methyltransferase 2 homolog A

ClinVar Annotator: match by term: Abnormal bleeding

PMID:25741868 PMID:31064749

NCBI chr22:2,872,328...2,877,732
Ensembl chr22:18,544,736...18,550,174

G

tubulin beta 1 class VI

ClinVar Annotator: match by term: Abnormal bleeding

PMID:18849486 PMID:25741868 PMID:27479822 PMID:28492532 PMID:32892537 More...

NCBI chr20:55,370,122...55,377,616
Ensembl chr20:56,730,882...56,738,741

G

thioredoxin reductase 2

ClinVar Annotator: match by term: Abnormal bleeding

PMID:25741868 PMID:31064749

NCBI chr22:2,636,703...2,704,082
Ensembl chr22:18,311,714...18,375,497

G

VPS33B late endosome and lysosome associated

ClinVar Annotator: match by term: Abnormal bleeding

PMID:25741868 PMID:28492532

NCBI chr15:69,691,717...69,715,617
Ensembl chr15:88,888,093...88,912,327

G

von Willebrand factor

ClinVar Annotator: match by term: Abnormal bleeding

PMID:1301136 PMID:1302613 PMID:1581215 PMID:1832934 PMID:1906179 More...

NCBI chr12:6,073,836...6,249,806
Ensembl chr12:5,990,612...6,165,153

G

WASP actin nucleation promoting factor

ClinVar Annotator: match by term: Abnormal bleeding

NCBI chr X:40,982,132...40,989,767
Ensembl chr X:48,842,765...48,850,380

G

zinc finger DHHC-type palmitoyltransferase 8

ClinVar Annotator: match by term: Abnormal bleeding

PMID:25741868 PMID:31064749

NCBI chr22:2,891,738...2,894,404

G

zinc finger protein 74

ClinVar Annotator: match by term: Abnormal bleeding

PMID:25741868 PMID:31064749

Ensembl chr22:19,079,769...19,094,835

Acute Traumatic Coagulopathy

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

plasminogen activator, tissue type

treatment

protein:increased expression:serum (rat)

PMID:25325345 PMID:25676919

RGD:11554179 RGD:11554180

NCBI chr 8:41,419,415...41,451,951
Ensembl chr 8:38,864,918...38,897,779

alpha-2-plasmin inhibitor deficiency

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

serpin family F member 2

ClinVar Annotator: match by term: Alpha-2-plasmin inhibitor deficiency

PMID:2496145 PMID:7095605 PMID:10583218

NCBI chr17:1,725,469...1,738,887
Ensembl chr17:1,618,549...1,631,570

atypical hemolytic-uremic syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ADAM metallopeptidase with thrombospondin type 1 motif 13

ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome

PMID:1787257 PMID:12753286 PMID:17187257 PMID:17627784 PMID:19847791 More...

NCBI chr 9:104,541,051...104,582,574
Ensembl chr 9:133,156,761...133,193,707

G

bile acid-CoA:amino acid N-acyltransferase

ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1

PMID:17182750 PMID:20301541

NCBI chr 9:72,568,002...72,593,179
Ensembl chr 9:100,563,040...100,586,189

G

C1GALT1 specific chaperone 1

ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome

PMID:25741868 PMID:36599939

NCBI chr X:109,905,468...109,909,826
Ensembl chr X:120,092,052...120,093,008

G

complement C2

ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome

PMID:1577763 PMID:2249879 PMID:6308626 PMID:8181962 PMID:9616367 More...

NCBI chr 6:31,590,135...31,606,368

G

complement C3

ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 6 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1

PMID:1976733 PMID:9536098 PMID:12462331 PMID:14639503 PMID:17576681 More...

NCBI chr19:5,708,211...5,753,178
Ensembl chr19:6,629,287...6,674,699

G

complement C3a receptor 1

ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1

NCBI chr12:8,178,064...8,186,206
Ensembl chr12:8,220,933...8,222,381

G

CD46 molecule

susceptibility
severity

ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: CD46-related condition | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome | ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome | ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome | ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome | ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome | ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome | ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2
DNA:mutations:cds:multiple (human)

OMIM
ClinVar
RGD

PMID:270646 PMID:2431077 PMID:3480783 PMID:9536098 PMID:9551389 More...

NCBI chr 1:183,330,423...183,373,916
Ensembl chr 1:188,031,758...188,182,046

G

centrosomal protein 290

ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome

PMID:25439097 PMID:25741868 PMID:28224992 PMID:28492532 PMID:29482223 More...

NCBI chr12:85,589,911...85,683,365
Ensembl chr12:88,896,146...88,988,044

G

complement factor B

ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome

PMID:1577763 PMID:2249879 PMID:6308626 PMID:7452889 PMID:8181962 More...

NCBI chr 6:31,606,716...31,612,782

G

complement factor H

susceptibility

ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 6 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 6 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1

PMID:646435 PMID:8072530 PMID:9536098 PMID:9551389 PMID:9811382 More...

NCBI chr 1:172,155,882...172,251,632
Ensembl chr 1:176,455,247...176,525,521

G

complement factor H related 5

ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome

PMID:16299065 PMID:17000000 PMID:19365580 PMID:24033266 PMID:25741868 More...

NCBI chr 1:172,541,948...172,574,591
Ensembl chr 1:176,876,635...176,908,723

G

complement factor I

ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 6 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome

PMID:849647 PMID:8613545 PMID:9536098 PMID:15173250 PMID:15917334 More...

NCBI chr 4:102,236,868...102,311,359
Ensembl chr 4:112,804,645...112,865,581

G

collagen type IV alpha 3 chain

ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome

PMID:11134255 PMID:12028435 PMID:24033266 PMID:25741868 PMID:26467025 More...

NCBI chr2B:114,410,703...114,559,336
Ensembl chr2B:233,294,783...233,371,021

G

collagen type IV alpha 4 chain

ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome

PMID:9792860 PMID:11134255 PMID:11685592 PMID:11961012 PMID:12028435 More...

NCBI chr2B:114,227,135...114,410,564
Ensembl chr2B:233,065,678...233,205,892

G

collagen type IV alpha 5 chain

ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome

PMID:7599631 PMID:7695699 PMID:8218237 PMID:8651296 PMID:8940267 More...

NCBI chr X:97,538,978...97,797,019
Ensembl chr X:108,008,689...108,166,095

G

diacylglycerol kinase epsilon

ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1 | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 7

PMID:23274426 PMID:23542698 PMID:24511134 PMID:24747643 PMID:25135762 More...

NCBI chr17:50,912,079...50,946,655
Ensembl chr17:55,773,896...55,802,485

G

laminin subunit beta 2

ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome

PMID:25741868 PMID:28492532

NCBI chr 3:49,045,419...49,057,340
Ensembl chr 3:50,125,460...50,137,074

G

plasminogen

ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome

PMID:25741868 PMID:28492532

NCBI chr 6:158,662,192...158,713,413
Ensembl chr 6:163,673,464...163,736,777

G

complement factor H-related protein 3

susceptibility

ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1

PMID:16998489 PMID:17367211 PMID:18006700 PMID:19745068 PMID:20843825 More...

NCBI chr 1:172,355,204...172,389,914

G

complement factor H-related protein 4

ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome

PMID:25741868 PMID:28492532

NCBI chr 1:172,392,804...172,454,153

G

complement factor H-related protein 2

ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome

NCBI chr 1:172,481,728...172,522,715

G

metabolism of cobalamin associated C

ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5
ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome

PMID:16311595 PMID:16714133 PMID:17768669 PMID:17853453 PMID:18164228 More...

NCBI chr 1:44,802,724...44,811,893
Ensembl chr 1:46,160,364...46,171,662

G

myosin heavy chain 9

ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome

PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532

NCBI chr22:17,200,623...17,305,826
Ensembl chr22:35,039,101...35,121,618

G

NLR family pyrin domain containing 3

ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome

PMID:25741868 PMID:28492532

NCBI chr 1:223,052,307...223,084,736
Ensembl chr 1:228,505,147...228,537,216

G

nephrocystin 3

ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome

PMID:25741868 PMID:26184788 PMID:28492532

NCBI chr 3:129,753,399...129,795,300

G

nephrocystin 4

ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome

PMID:25741868 PMID:28492532

NCBI chr 1:4,620,593...4,756,363
Ensembl chr 1:5,878,739...6,012,864

G

phospholipase A2 receptor 1

ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome

NCBI chr2B:47,226,791...47,355,831
Ensembl chr2B:164,605,440...164,726,017

G

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1

ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome

PMID:28492532 PMID:28844315

NCBI chr2B:103,672,934...103,743,802
Ensembl chr2B:222,276,353...222,347,258

G

thrombomodulin

severity
no_association

ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 6 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 6 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 6 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 6 | ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome
DNA:SNPs:5' utr, 3' utr:multiple

RGD
OMIM
ClinVar

PMID:7811989 PMID:9157575 PMID:9198186 PMID:9236408 PMID:10102456 More...

RGD:11038684 RGD:11038691

NCBI chr20:22,992,341...22,996,415
Ensembl chr20:23,345,917...23,347,812

G

transmembrane protein 67

ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome

PMID:25741868 PMID:28492532

NCBI chr 8:90,378,623...90,442,904
Ensembl chr 8:92,324,402...92,387,437

G

transient receptor potential cation channel subfamily C member 6

ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome

PMID:19380626 PMID:25741868

NCBI chr11:96,414,498...96,551,670
Ensembl chr11:99,919,410...100,050,685

G

WT1 transcription factor

ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome

PMID:18559874 PMID:18591546 PMID:19171881 PMID:19221039 PMID:19494353 More...

NCBI chr11:32,349,807...32,398,494
Ensembl chr11:32,238,720...32,287,249

autoimmune thrombocytopenic purpura

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ADAM metallopeptidase with thrombospondin type 1 motif 13

CTD Direct Evidence: marker/mechanism

NCBI chr 9:104,541,051...104,582,574
Ensembl chr 9:133,156,761...133,193,707

G

albumin

NCBI chr 4:50,773,244...50,790,474
Ensembl chr 4:56,605,322...56,622,418

G

CD40 molecule

protein:increased expression:peripheral blood, B lymphocyte (human)

NCBI chr20:42,455,711...42,467,139
Ensembl chr20:43,541,619...43,552,994

G

CD40 ligand

treatment

protein:increased expression:peripheral blood, T lymphocyte (human)
protein:decreased expression:serum (mouse)

PMID:16188945 PMID:17654056 PMID:18341638 PMID:22537155

RGD:11344977 RGD:11344980 RGD:11352237 RGD:11352267

NCBI chr X:125,776,138...125,788,820
Ensembl chr X:136,042,849...136,058,202

G

CD86 molecule

treatment

protein:increased expression:peripheral blood mononuclear cell (human)

PMID:19379594 PMID:20581660

RGD:11354966 RGD:11520785

NCBI chr 3:119,151,884...119,217,641
Ensembl chr 3:126,059,008...126,124,339

G

DNA methyltransferase 3 alpha

mRNA:decreased expression:mononuclear cell

NCBI chr2A:25,229,593...25,344,733
Ensembl chr2A:25,331,095...25,412,605

G

DNA methyltransferase 3 beta

susceptibility

DNA:SNP:promoter: -579G>T(human)
mRNA:decreased expression:mononuclear cell

PMID:18683034 PMID:23000068

RGD:9588662 RGD:9589094

NCBI chr20:29,049,993...29,096,957
Ensembl chr20:30,186,069...30,215,487

G

Fas cell surface death receptor

protein:increased expression:serum:

NCBI chr10:85,707,457...85,741,539
Ensembl chr10:89,217,949...89,243,612

G

Fc gamma receptor IIb

treatment
disease_progression

DNA:SNP: :p.I232T (human)

PMID:15566359 PMID:19549396 PMID:21045192 PMID:21131591 PMID:22257295

RGD:11040933 RGD:11344927 RGD:11344928 RGD:11344931 RGD:11344955

NCBI chr 1:137,074,342...137,090,962
Ensembl chr 1:140,882,043...140,890,637

G

Fc gamma receptor IIIa

treatment
susceptibility

DNA:SNP:cds:p.V158F(human)
DNA:SNP:exon:p.F158V (rs396991) (human)

PMID:11380443 PMID:15479722 PMID:22123287 PMID:23484707

RGD:11040776 RGD:11040989 RGD:11344926 RGD:11352255

NCBI chr 1:137,027,943...137,036,738

G

glycoprotein Ib platelet subunit alpha

NCBI chr17:4,980,083...4,983,219

G

interleukin 10

disease_progression

DNA:SNPs, haplotypes:promoter:-1082A>G, -819C>T, -592C>A (human)
DNA:SNP:promoter:-627C>A (human)

PMID:22677268 PMID:25051072

RGD:11041894 RGD:11046267

NCBI chr 1:182,369,234...182,374,207
Ensembl chr 1:186,648,289...186,653,371

G

interleukin 18

protein:increased expression:plasma:

NCBI chr11:107,024,376...107,045,194
Ensembl chr11:110,867,586...110,888,371

G

interleukin 1 alpha

DNA:SNP:promoter:-899C>T (human)

NCBI chr2A:89,273,482...89,284,421
Ensembl chr2A:113,784,854...113,795,801

G

interleukin 1 receptor antagonist

susceptibility

DNA:repeats::

NCBI chr2A:88,991,646...89,008,013
Ensembl chr2A:114,061,182...114,078,839

G

interleukin 2

susceptibility

DNA:polymorphism::-330T>G(human)

NCBI chr 4:114,637,328...114,642,586
Ensembl chr 4:125,782,563...125,787,984

G

interleukin 4

disease_progression

DNA:repeat:intron

NCBI chr 5:128,091,342...128,099,886
Ensembl chr 5:134,253,039...134,261,581

G

integrin subunit beta 3

PMID:10936026 PMID:24258817

RGD:10755473 RGD:10755475

NCBI chr17:10,134,450...10,194,596
Ensembl chr17:10,353,111...10,392,382

G

HLA class II histocompatibility antigen, DQ beta 1 chain

treatment

DNA:polymorphisms:cds:HLA-DQB1*0401 (human)

NCBI chr 6:32,237,395...32,244,201
Ensembl chr 6:33,353,599...33,360,272

G

low affinity immunoglobulin gamma Fc region receptor II-a

no_association
susceptibility
treatment

DNA:SNP:cds:p.R131H (human)

PMID:21131591 PMID:22123287 PMID:23249566

RGD:11040933 RGD:11040989 RGD:11040990

NCBI chr 1:136,892,311...136,906,450

G

plasminogen activator, tissue type

protein:increased expression:plasma (human)

NCBI chr 8:41,419,415...41,451,951
Ensembl chr 8:38,864,918...38,897,779

G

protein tyrosine phosphatase non-receptor type 22

no_association

DNA: snp: cds: C1858T
DNA:snp:cds:c.1858C>T (rs2476601) (human)

PMID:21597364 PMID:27309885

RGD:11535019 RGD:6484673

NCBI chr 1:88,685,736...88,743,164
Ensembl chr 1:123,734,511...123,790,830

G

suppressor of cytokine signaling 1

ClinVar Annotator: match by term: Autoimmune thrombocytopenia | ClinVar Annotator: match by term: Autoimmune thrombocytopenic purpura

PMID:32853638 PMID:33087723

NCBI chr16:10,196,432...10,198,205

G

transforming growth factor beta 1

disease_progression

protein:decreased expression:plasma:
mRNA:increased expression: :

PMID:11886393 PMID:24763013 PMID:24801815

RGD:11073598 RGD:11073600 RGD:11073603

NCBI chr19:38,324,009...38,347,003
Ensembl chr19:46,831,659...46,852,973

autosomal dominant macrothrombocytopenia TUBB1-related

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

tubulin beta 1 class VI

ClinVar Annotator: match by term: Macrothrombocytopenia, isolated, 1, autosomal dominant | ClinVar Annotator: match by term: TUBB1-related condition

PMID:4516618 PMID:18849486 PMID:24344610 PMID:24777453 PMID:25741868 More...

NCBI chr20:55,370,122...55,377,616
Ensembl chr20:56,730,882...56,738,741

autosomal dominant nonsyndromic deafness 17

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

myosin heavy chain 9

ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 17 | ClinVar Annotator: match by term: Deafness, autosomal dominant 17 | ClinVar Annotator: match by term: Deafness, autosomal dominant nonsyndromic sensorineural 17 | ClinVar Annotator: match by term: Late-onset progressive hereditary hearing impairment due to cochleosaccular degeneration | ClinVar Annotator: match by term: MYH9-related condition

PMID:1449176 PMID:5011389 PMID:8280620 PMID:9390828 PMID:9536098 More...

NCBI chr22:17,200,623...17,305,826
Ensembl chr22:35,039,101...35,121,618

autosomal hemophilia A

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

coagulation factor VIII

ClinVar Annotator: match by term: Mild hemophilia A

NCBI chr X:144,316,192...144,505,773
Ensembl chr X:154,156,873...154,341,317

Bernard-Soulier syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

glycoprotein Ib platelet subunit alpha

treatment

ClinVar Annotator: match by term: BLEEDING DISORDER, PLATELET-TYPE, 1 | ClinVar Annotator: match by term: Bernard Soulier syndrome | ClinVar Annotator: match by term: Von Willebrand factor receptor deficiency

RGD
OMIM
ClinVar

PMID:7579348 PMID:7855797 PMID:8950770 PMID:9233564 PMID:9326229 More...

NCBI chr17:4,980,083...4,983,219

G

glycoprotein Ib platelet subunit beta

severity

ClinVar Annotator: match by term: BLEEDING DISORDER, PLATELET-TYPE, 1 | ClinVar Annotator: match by term: Bernard Soulier syndrome
DNA:missense mutation:exon:c.281A>G(p.D94G)(human)

OMIM
ClinVar
RGD

PMID:10887115 PMID:17109744 PMID:25741868 PMID:28131619 PMID:28492532 More...

NCBI chr22:2,485,350...2,486,688

G

glycoprotein IX platelet

severity

ClinVar Annotator: match by term: BLEEDING DISORDER, PLATELET-TYPE, 1 | ClinVar Annotator: match by term: Bernard Soulier syndrome | ClinVar Annotator: match by term: Von Willebrand factor receptor deficiency
DNA:missense mutation:cds:c.182A>G(p.N61S)(human)

OMIM
ClinVar
RGD

PMID:8049428 PMID:8481514 PMID:9163595 PMID:9432024 PMID:11167791 More...

NCBI chr 3:126,118,762...126,122,732
Ensembl chr 3:133,480,173...133,480,706

G

septin 5

ClinVar Annotator: match by term: BLEEDING DISORDER, PLATELET-TYPE, 1 | ClinVar Annotator: match by term: Bernard Soulier syndrome

PMID:10887115 PMID:17109744 PMID:25741868 PMID:28492532 PMID:31064749 More...

NCBI chr22:2,476,400...2,485,225
Ensembl chr22:18,150,865...18,159,697

G

von Willebrand factor

NCBI chr12:6,073,836...6,249,806
Ensembl chr12:5,990,612...6,165,153

Bernard-Soulier Syndrome Type A1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

glycoprotein Ib platelet subunit alpha

ClinVar Annotator: match by term: Bernard-Soulier syndrome, type A1

PMID:1694864 PMID:1901273 PMID:2308962 PMID:7690774 PMID:7855797 More...

NCBI chr17:4,980,083...4,983,219

Bernard-Soulier syndrome type A2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

glycoprotein Ib platelet subunit alpha

ClinVar Annotator: match by term: Bernard-Soulier syndrome, type A2, autosomal dominant

PMID:1694864 PMID:1730088 PMID:7579348 PMID:7690774 PMID:7855797 More...

NCBI chr17:4,980,083...4,983,219

Bernard-Soulier Syndrome, Autosomal Dominant

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

glycoprotein Ib platelet subunit alpha

DNA:missense mutation: :p.N41H (169A>C) (human)
DNA:missense mutation: :p.A156V (515C>T) (human)

PMID:11222377 PMID:18815197

RGD:10450832 RGD:10450842

NCBI chr17:4,980,083...4,983,219

Bernard-Soulier Syndrome, Type B

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

glycoprotein Ib platelet subunit beta

ClinVar Annotator: match by term: Bernard-Soulier syndrome, type B | ClinVar Annotator: match by term: Macrothrombocytopenia, familial, Bernard-Soulier type

PMID:7633430 PMID:8703016 PMID:9116284 PMID:10887115 PMID:18414213 More...

NCBI chr22:2,485,350...2,486,688

G

septin 5

ClinVar Annotator: match by term: Bernard-Soulier syndrome, type B | ClinVar Annotator: match by term: Macrothrombocytopenia, familial, Bernard-Soulier type

PMID:7633430 PMID:8703016 PMID:9116284 PMID:10887115 PMID:18414213 More...

NCBI chr22:2,476,400...2,485,225
Ensembl chr22:18,150,865...18,159,697

Bernard-Soulier Syndrome, Type C

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

glycoprotein IX platelet

ClinVar Annotator: match by term: Bernard-Soulier syndrome type C

PMID:8049428 PMID:8481514 PMID:9163595 PMID:9432024 PMID:9886312 More...

NCBI chr 3:126,118,762...126,122,732
Ensembl chr 3:133,480,173...133,480,706

blood platelet disease

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ankyrin repeat domain containing 26

ClinVar Annotator: match by term: Platelet disorder

PMID:23677566 PMID:25741868 PMID:28492532 PMID:28669401 PMID:31064749 More...

NCBI chr10:27,111,909...27,210,001
Ensembl chr10:27,478,452...27,572,261

G

CD36 molecule (CD36 blood group)

ClinVar Annotator: match by term: Platelet disorder

PMID:7533783 PMID:7686693 PMID:10946357 PMID:11019968 PMID:11718687 More...

NCBI chr 7:72,566,478...72,643,517
Ensembl chr 7:86,265,114...86,305,865

G

FERM domain containing kindlin 3

CTD Direct Evidence: marker/mechanism

NCBI chr11:59,562,861...59,581,054
Ensembl chr11:62,909,030...62,928,191

G

glycoprotein VI platelet

Sticky platelet syndrome associated with Spontaneous Abortion;DNA:missense mutations:CDS:p.H322N, p.A249T, p.E237K (rs1671152, rs2304167, rs1654416) (human)
Sticky platelet syndrome associated with Spontaneous Abortion;DNA:SNP:exon:g.55526345G>T (rs1671152) (human)
Sticky platelet syndrome associated with Spontaneous Abortion;DNA:SNPs:introns, exon:g.55527189T>G, g.55535881G>A, g.55536595A>G (rs1671153, rs1654419, rs1613662) (human)
Sticky platelet syndrome type II;DNA:SNPs:introns: (rs1671153, rs1654419) (human)
Sticky platelet syndrome type I associated with cerebral infarction;DNA:SNPs, haplotype:multiple (human)

PMID:22821001 PMID:22901851 PMID:23168074 PMID:26308704 PMID:28041267

RGD:11537847 RGD:401794137 RGD:401794413 RGD:401794417 RGD:401794455

NCBI chr19:52,051,138...52,071,673
Ensembl chr19:60,746,578...60,770,643

G

phospholipase A2 group IVA

CTD Direct Evidence: marker/mechanism

NCBI chr 1:162,362,600...162,521,974
Ensembl chr 1:166,512,870...166,672,101

G

syntaxin binding protein 2

CTD Direct Evidence: marker/mechanism

NCBI chr19:6,926,833...6,937,385
Ensembl chr19:7,781,830...7,792,038

G

thromboxane A2 receptor

DNA:mutation:cds:p.R60L(human)
CTD Direct Evidence: marker/mechanism

PMID:7929844 PMID:19828703

NCBI chr19:2,621,606...2,632,800
Ensembl chr19:3,570,290...3,581,924

Braddock-Carey Syndrome 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

kinesin family member 15

ClinVar Annotator: match by term: Braddock-carey syndrome 2

NCBI chr 3:44,656,791...44,774,655
Ensembl chr 3:45,713,962...45,809,700

Brittle Cornea Syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

zinc finger protein 469

ClinVar Annotator: match by term: Brittle cornea syndrome

PMID:25741868 PMID:28492532 PMID:29228253

NCBI chr16:68,777,496...69,151,995
Ensembl chr16:88,803,202...88,815,390

brittle cornea syndrome 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

PR/SET domain 5

ClinVar Annotator: match by term: Brittle cornea syndrome 1 | ClinVar Annotator: match by term: Corneal fragility, keratoglobus, blue sclerae, joint hyperextensibility

PMID:25741868 PMID:28492532

NCBI chr 4:112,896,606...113,127,400
Ensembl chr 4:124,036,911...124,252,928

G

zinc finger protein 469

ClinVar Annotator: match by term: Brittle cornea syndrome 1 | ClinVar Annotator: match by term: Corneal fragility, keratoglobus, blue sclerae, joint hyperextensibility | ClinVar Annotator: match by term: DYSGENESIS MESODERMALIS CORNEAE ET SCLERAE | ClinVar Annotator: match by term: EDS6B | ClinVar Annotator: match by term: ZNF469-related condition

PMID:5755738 PMID:7387950 PMID:18452888 PMID:19661234 PMID:20938016 More...

NCBI chr16:68,777,496...69,151,995
Ensembl chr16:88,803,202...88,815,390

brittle cornea syndrome 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

PR/SET domain 5

ClinVar Annotator: match by term: Brittle cornea syndrome 2

PMID:8458232 PMID:9536098 PMID:17576681 PMID:21664999 PMID:22122778 More...

NCBI chr 4:112,896,606...113,127,400
Ensembl chr 4:124,036,911...124,252,928

cavernous hemangioma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

CCM2 scaffold protein

ClinVar Annotator: match by term: Cavernous hemangioma

NCBI chr 7:45,714,413...45,791,016
Ensembl chr 7:45,808,145...45,858,828

G

KRIT1 ankyrin repeat containing

ClinVar Annotator: match by term: Cavernous hemangioma

PMID:10508515 PMID:10545614 PMID:11222804 PMID:12404106 PMID:23595507 More...

NCBI chr 7:84,197,200...84,244,050
Ensembl chr 7:97,794,531...97,840,895

G

programmed cell death 10

ClinVar Annotator: match by term: Cavernous hemangioma

PMID:9536098 PMID:16329096 PMID:17576681 PMID:24466005 PMID:25122144 More...

NCBI chr 3:164,703,909...164,755,085
Ensembl chr 3:172,760,923...172,811,430

cerebral cavernous malformation

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

A-kinase anchoring protein 9

ClinVar Annotator: match by term: Cerebral cavernous malformation

NCBI chr 7:83,942,590...84,108,648
Ensembl chr 7:97,540,356...97,705,608

G

ankyrin repeat and IBR domain containing 1

ClinVar Annotator: match by term: Cerebral cavernous malformation

NCBI chr 7:84,243,929...84,399,358
Ensembl chr 7:97,841,233...97,995,816

G

CCM2 scaffold protein

ClinVar Annotator: match by term: Cerebral cavernous malformation

PMID:25525273 PMID:25741868 PMID:28492532

NCBI chr 7:45,714,413...45,791,016
Ensembl chr 7:45,808,145...45,858,828

G

cytochrome P450 family 51 subfamily A member 1

ClinVar Annotator: match by term: Cerebral cavernous malformation

NCBI chr 7:84,110,130...84,132,870
Ensembl chr 7:97,708,806...97,729,824

G

fms related receptor tyrosine kinase 1

protein:increased expression:endothelial cell:

NCBI chr13:9,584,850...9,779,542

G

kinase insert domain receptor

protein:increased expression:endothelial cell:

NCBI chr 4:68,813,894...68,861,018
Ensembl chr 4:75,377,375...75,427,109

G

KRIT1 ankyrin repeat containing

susceptibility

ClinVar Annotator: match by term: Cavernous Hemangioma of Brain | ClinVar Annotator: match by term: Cerebral cavernous malformation | ClinVar Annotator: match by term: Cerebral cavernous malformations

PMID:3393196 PMID:7898703 PMID:9065560 PMID:9536098 PMID:10508515 More...

NCBI chr 7:84,197,200...84,244,050
Ensembl chr 7:97,794,531...97,840,895

G

leucine rich repeats and death domain containing 1

ClinVar Annotator: match by term: Cerebral cavernous malformation

NCBI chr 7:84,142,698...84,176,943
Ensembl chr 7:97,738,096...97,774,111

G

notch receptor 3

ClinVar Annotator: match by term: Cerebral cavernous malformation

PMID:25741868 PMID:28492532

NCBI chr19:14,692,571...14,733,758
Ensembl chr19:15,678,674...15,715,080

G

programmed cell death 10

ClinVar Annotator: match by term: Cavernous Hemangioma of Brain | ClinVar Annotator: match by term: Cerebral cavernous malformation

PMID:15543491 PMID:18035376 PMID:18300272 PMID:23485406 PMID:23595507 More...

NCBI chr 3:164,703,909...164,755,085
Ensembl chr 3:172,760,923...172,811,430

G

paraoxonase 1

susceptibility

DNA:missense mutations:cds:p.L55M, p.Q192R (human)

NCBI chr 7:87,253,476...87,279,650
Ensembl chr 7:100,841,286...100,867,493

G

phosphatase and tensin homolog

protein:decreased expression:brain (human)

NCBI chr10:84,587,841...84,689,043
Ensembl chr10:88,093,539...88,194,605

G

serpin family I member 1

ClinVar Annotator: match by term: Cavernous Hemangioma of Brain | ClinVar Annotator: match by term: Cerebral cavernous malformation

NCBI chr 3:164,755,803...164,845,572
Ensembl chr 3:172,865,891...172,902,372

cerebral cavernous malformation 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

KRIT1 ankyrin repeat containing

ClinVar Annotator: match by term: Cerebral cavernous malformation 1 | ClinVar Annotator: match by term: Cerebral cavernous malformations 1 | ClinVar Annotator: match by term: KRIT1-Related Disorders

PMID:3393196 PMID:7898703 PMID:9065560 PMID:10508515 PMID:10545614 More...

NCBI chr 7:84,197,200...84,244,050
Ensembl chr 7:97,794,531...97,840,895

G

programmed cell death 10

ClinVar Annotator: match by term: Cerebral cavernous malformation 1

NCBI chr 3:164,703,909...164,755,085
Ensembl chr 3:172,760,923...172,811,430

G

prostaglandin I2 synthase

exacerbates

DNA:silent mutation:CDS:p.L256L (rs5628) (human)

NCBI chr20:45,841,238...45,905,641
Ensembl chr20:46,905,665...46,971,612

cerebral cavernous malformation 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

CCM2 scaffold protein

ClinVar Annotator: match by term: Cerebral cavernous malformation 2

PMID:2468908 PMID:9536098 PMID:14624391 PMID:14740320 PMID:15122722 More...

NCBI chr 7:45,714,413...45,791,016
Ensembl chr 7:45,808,145...45,858,828

G

NAC alpha domain containing

ClinVar Annotator: match by term: Cerebral cavernous malformation 2

PMID:17160895 PMID:28492532

NCBI chr 7:45,794,340...45,802,532

cerebral cavernous malformation 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

programmed cell death 10

onset
exacerbates

ClinVar Annotator: match by term: Cerebral cavernous malformation 3 | ClinVar Annotator: match by term: Cerebral cavernous malformations 3
DNA:mutations:multiple (human)

OMIM
ClinVar
RGD

PMID:9536098 PMID:15543491 PMID:16199547 PMID:16329096 PMID:16380626 More...

RGD:401827114 RGD:401827115

NCBI chr 3:164,703,909...164,755,085
Ensembl chr 3:172,760,923...172,811,430

G

serpin family I member 1

ClinVar Annotator: match by term: Cerebral cavernous malformation 3

NCBI chr 3:164,755,803...164,845,572
Ensembl chr 3:172,865,891...172,902,372

Cerebral Cavernous Malformation 4

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha

ClinVar Annotator: match by term: Cerebral cavernous malformation 4

NCBI chr 3:176,182,765...176,272,024
Ensembl chr 3:184,355,785...184,441,977

Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

collagen type I alpha 1 chain

ClinVar Annotator: match by term: Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 | ClinVar Annotator: match by term: OIEDS SYNDROME 1

PMID:7695699 PMID:7942841 PMID:8218237 PMID:8456808 PMID:8613526 More...

NCBI chr17:44,274,349...44,291,764
Ensembl chr17:49,150,677...49,166,677

Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

collagen type I alpha 2 chain

ClinVar Annotator: match by term: Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 | ClinVar Annotator: match by term: OIEDS SYNDROME 2

PMID:7695699 PMID:8218237 PMID:9016532 PMID:9536098 PMID:10027910 More...

NCBI chr 7:86,344,657...86,381,282
Ensembl chr 7:99,935,185...99,971,803

congenital afibrinogenemia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily B member 11

CTD Direct Evidence: marker/mechanism

NCBI chr2B:56,199,434...56,311,773
Ensembl chr2B:173,664,518...173,776,379

G

complement factor I

ClinVar Annotator: match by term: Congenital afibrinogenemia | ClinVar Annotator: match by term: Factor I deficiency
ClinVar Annotator: match by term: Afibrinogenemia | ClinVar Annotator: match by term: Factor I deficiency

PMID:849647 PMID:8613545 PMID:9536098 PMID:15917334 PMID:16199547 More...

NCBI chr 4:102,236,868...102,311,359
Ensembl chr 4:112,804,645...112,865,581

G

fibrinogen alpha chain

ClinVar Annotator: match by term: Afibrinogenemia | ClinVar Annotator: match by term: Congenital afibrinogenemia | ClinVar Annotator: match by term: Hypofibrinogenemia
ClinVar Annotator: match by term: Afibrinogenemia | ClinVar Annotator: match by term: Congenital afibrinogenemia | ClinVar Annotator: match by term: Factor I deficiency | ClinVar Annotator: match by term: Hypofibrinogenemia

PMID:237956 PMID:2738154 PMID:3345340 PMID:3590111 PMID:3618591 More...

NCBI chr 4:146,949,680...146,957,291

G

fibrinogen beta chain

ClinVar Annotator: match by term: Congenital afibrinogenemia | ClinVar Annotator: match by term: FGB-related condition | ClinVar Annotator: match by term: Hypofibrinogenemia

PMID:1565641 PMID:3194892 PMID:10666208 PMID:10688828 PMID:11468164 More...

NCBI chr 4:146,929,561...146,937,665
Ensembl chr 4:158,747,659...158,755,766

G

fibrinogen gamma chain

ClinVar Annotator: match by term: Afibrinogenemia | ClinVar Annotator: match by term: Congenital afibrinogenemia | ClinVar Annotator: match by term: FIBRINOGEN PARIS 1 | ClinVar Annotator: match by term: Hypofibrinogenemia

PMID:1249208 PMID:1471077 PMID:1733971 PMID:2512677 PMID:2617471 More...

NCBI chr 4:146,970,671...146,979,348
Ensembl chr 4:158,788,966...158,797,237

congenital amegakaryocytic thrombocytopenia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

MPL proto-oncogene, thrombopoietin receptor

ClinVar Annotator: match by term: Congenital amegakaryocytic thrombocytopenia

PMID:971406 PMID:8073287 PMID:9536098 PMID:10077649 PMID:10971406 More...

NCBI chr 1:42,639,191...42,654,738
Ensembl chr 1:44,018,395...44,034,492

Congenital Amegakaryocytic Thrombocytopenia 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

MPL proto-oncogene, thrombopoietin receptor

NCBI chr 1:42,639,191...42,654,738
Ensembl chr 1:44,018,395...44,034,492

Congenital Amegakaryocytic Thrombocytopenia 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

thrombopoietin

ClinVar Annotator: match by term: Amegakaryocytic thrombocytopenia, congenital, 2

PMID:24085763 PMID:25741868 PMID:28492532 PMID:28559357 PMID:29191945 More...

NCBI chr 3:181,409,038...181,416,986
Ensembl chr 3:189,891,025...189,897,429

congenital disorder of glycosylation Ix

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

STT3 oligosaccharyltransferase complex catalytic subunit B

ClinVar Annotator: match by term: CDG Ix | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1x

PMID:9536098 PMID:17576681 PMID:23842455 PMID:25741868 PMID:28492532 More...

NCBI chr 3:31,454,297...31,557,189
Ensembl chr 3:31,771,265...31,873,381

Congenital Dysfibrinogenemia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

fibrinogen alpha chain

ClinVar Annotator: match by term: Dysfibrinogenemia, congenital | ClinVar Annotator: match by term: FIBRINOGEN AARHUS 1 | ClinVar Annotator: match by term: FIBRINOGEN CARACAS 2

PMID:1675636 PMID:1912564 PMID:2738154 PMID:3345340 PMID:3590111 More...

NCBI chr 4:146,949,680...146,957,291

G

fibrinogen beta chain

ClinVar Annotator: match by term: Dysfibrinogenemia, congenital

PMID:10688828 PMID:19229055 PMID:19420351 PMID:20978265 PMID:21959590 More...

NCBI chr 4:146,929,561...146,937,665
Ensembl chr 4:158,747,659...158,755,766

G

fibrinogen gamma chain

ClinVar Annotator: match by term: Dysfibrinogenemia | ClinVar Annotator: match by term: Dysfibrinogenemia, congenital | ClinVar Annotator: match by term: FIBRINOGEN BALTIMORE 3

PMID:1733971 PMID:2328317 PMID:2496144 PMID:2512677 PMID:2617471 More...

NCBI chr 4:146,970,671...146,979,348
Ensembl chr 4:158,788,966...158,797,237

Congenital Hypodysfibrinogenemia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

fibrinogen alpha chain

ClinVar Annotator: match by term: FIBRINOGEN ROUEN 1 | ClinVar Annotator: match by term: Hypodysfibrinogenemia, congenital

PMID:2742828 PMID:4084461 PMID:6575689 PMID:9536098 PMID:10891444 More...

NCBI chr 4:146,949,680...146,957,291

G

fibrinogen beta chain

ClinVar Annotator: match by term: FIBRINOGEN BALTIMORE 2 | ClinVar Annotator: match by term: FIBRINOGEN CHRISTCHURCH 2 | ClinVar Annotator: match by term: FIBRINOGEN LONGMONT

PMID:1565641 PMID:3194892 PMID:11468164 PMID:23061815 PMID:24679643 More...

NCBI chr 4:146,929,561...146,937,665
Ensembl chr 4:158,747,659...158,755,766

G

fibrinogen gamma chain

ClinVar Annotator: match by term: FIBRINOGEN HAIFA 1 | ClinVar Annotator: match by term: FIBRINOGEN TOKYO 2 | ClinVar Annotator: match by term: Hypodysfibrinogenemia

PMID:1733971 PMID:2512677 PMID:2617471 PMID:2971042 PMID:2976995 More...

NCBI chr 4:146,970,671...146,979,348
Ensembl chr 4:158,788,966...158,797,237

Congenital Prothrombin Deficiency

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

coagulation factor II, thrombin

susceptibility

ClinVar Annotator: match by term: Congenital prothrombin deficiency | ClinVar Annotator: match by term: Hereditary factor II deficiency disease | ClinVar Annotator: match by term: Prolonged prothrombin time

PMID:444582 PMID:625142 PMID:1349838 PMID:1421398 PMID:1557383 More...

NCBI chr11:46,669,925...46,690,391
Ensembl chr11:47,227,891...47,249,157

cryoglobulinemia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily B member 1

susceptibility

associated with hepatitis C;DNA:SNP: :3435C>T(human)

NCBI chr 7:79,497,536...79,706,277
Ensembl chr 7:93,147,950...93,243,238

G

CD86 molecule

associated with Hepatitis C, Chronic;protein:increased expression:peripheral blood, B cell (human)

NCBI chr 3:119,151,884...119,217,641
Ensembl chr 3:126,059,008...126,124,339

G

C-X-C motif chemokine ligand 10

associated with hepatitis C; protein:increased expression:serum

NCBI chr 4:48,182,355...48,184,733
Ensembl chr 4:54,020,204...54,022,606

G

interferon lambda 3

severity

associated with Hepatitis C, Chronic;DNA:SNP:enhancer: (rs12979860) (human)

NCBI chr19:36,341,396...36,343,261

G

transcobalamin 2

associated with Glomerulonephritis;protein:increased expression:serum:

NCBI chr22:11,635,107...11,655,137
Ensembl chr22:29,435,517...29,455,494

G

tumor necrosis factor

protein:increased expression:serum

NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381

cryoglobulinemic vasculitis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

activation induced cytidine deaminase

associated with Chronic Hepatitis C; mRNA:increased expression:B cell, CD19-positive (human)

NCBI chr12:8,688,392...8,699,008
Ensembl chr12:8,904,273...8,913,917

G

thymic stromal lymphopoietin

associated with Chronic Hepatitis C; mRNA, protein:increased expression:skin, serum (human)

NCBI chr 5:106,440,136...106,446,849
Ensembl chr 5:112,242,490...112,250,130

Diarrhea prodrome + Hemolytic-Uremic Syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

glycoprotein Ib platelet subunit alpha

associated with Escherichia Coli Infections;DNA:SNP:exon: (rs121908064) (human)

NCBI chr17:4,980,083...4,983,219

disseminated intravascular coagulation

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ADAM metallopeptidase with thrombospondin type 1 motif 13

protein:decreased expression, decreased activity:plasma (human)

NCBI chr 9:104,541,051...104,582,574
Ensembl chr 9:133,156,761...133,193,707

G

elastase, neutrophil expressed

associated with Multiple Organ Failure, Craniocerebral Trauma;protein:increased expression:plasma:

PMID:10912863 PMID:20655560

RGD:10450544 RGD:10450545

NCBI chr19:276,499...280,598

G

coagulation factor XIII A chain

NCBI chr 6:5,978,505...6,156,705
Ensembl chr 6:6,157,926...6,513,961

G

coagulation factor II, thrombin

associated with Wounds and Injuries
CTD Direct Evidence: marker/mechanism

PMID:1336986 PMID:1894189 PMID:19682336 PMID:22229668 PMID:23737601

RGD:10449422 RGD:10449429 RGD:10449432 RGD:6893489

NCBI chr11:46,669,925...46,690,391
Ensembl chr11:47,227,891...47,249,157

G

coagulation factor III, tissue factor

protein:increased expression:plasma
associated with Leukemia, Myeloid
mRNA, protein:increased expression:lung, plasma
CTD Direct Evidence: marker/mechanism

PMID:3802033 PMID:7740478 PMID:8914465 PMID:9134660 PMID:9426395 More...

RGD:11060253 RGD:11060265 RGD:11341675

NCBI chr 1:97,190,381...97,203,076
Ensembl chr 1:95,918,502...95,931,050

G

coagulation factor VII

CTD Direct Evidence: marker/mechanism

NCBI chr13:94,246,694...94,261,133
Ensembl chr13:113,315,868...113,329,995

G

fibrinogen alpha chain

treatment

protein:decreased expression:plasma (rat)

PMID:22800895 PMID:23538169

RGD:10755508 RGD:10755509

NCBI chr 4:146,949,680...146,957,291

G

glycoprotein VI platelet

protein:increased expression:plasma (human)

NCBI chr19:52,051,138...52,071,673
Ensembl chr19:60,746,578...60,770,643

G

interleukin 10

protein:increased expression:plasma

NCBI chr 1:182,369,234...182,374,207
Ensembl chr 1:186,648,289...186,653,371

G

interleukin 6

severity
treatment

associated with Hemorrhagic Fever, Crimean
protein:increased expression:plasma (rat)

PMID:16518755 PMID:16613997 PMID:16810104 PMID:16932226

RGD:10450536 RGD:11049462 RGD:11060278 RGD:11062099

NCBI chr 7:23,415,922...23,420,767

G

oxytocin/neurophysin I prepropeptide

CTD Direct Evidence: marker/mechanism

NCBI chr20:3,157,246...3,159,013

G

plasminogen activator, tissue type

treatment

associated with Jaundice, Obstructive
protein:increased expression:plasma (human)

PMID:1425827 PMID:23726093

RGD:11541052 RGD:11541087

NCBI chr 8:41,419,415...41,451,951
Ensembl chr 8:38,864,918...38,897,779

G

protein C, inactivator of coagulation factors Va and VIIIa

treatment

CTD Direct Evidence: marker/mechanism

PMID:9788960 PMID:10936861 PMID:18376272

RGD:11099993 RGD:11100014

NCBI chr2B:32,846,899...32,859,060
Ensembl chr2B:128,083,794...128,094,625

G

serpin family C member 1

treatment

associated with Endotoxemia
CTD Direct Evidence: marker/mechanism|therapeutic

PMID:2679067 PMID:6233579 PMID:8810955 PMID:9637888

NCBI chr 1:149,421,737...149,435,301
Ensembl chr 1:153,126,031...153,139,369

G

serpin family E member 1

treatment

protein:increased expression:blood (rat)
associated with Endotoxemia

PMID:15869603 PMID:23737601

RGD:10449432 RGD:11080963

NCBI chr 7:93,267,517...93,279,728
Ensembl chr 7:106,510,130...106,518,450

G

tissue factor pathway inhibitor

treatment

mRNA, protein:increased expression:lung, plasma
protein:increased expression:plasma:

PMID:8292719 PMID:8914465 PMID:8929465 PMID:9426395 PMID:11074537

RGD:11060128 RGD:11060253 RGD:11060265 RGD:11062067 RGD:11341674

NCBI chr2B:74,744,154...74,834,338
Ensembl chr2B:192,541,881...192,581,384

G

thrombomodulin

treatment

CTD Direct Evidence: therapeutic

PMID:9134660 PMID:21569368 PMID:23952647

RGD:11038686 RGD:5685034

NCBI chr20:22,992,341...22,996,415
Ensembl chr20:23,345,917...23,347,812

G

tumor necrosis factor

severity

associated with Hemorrhagic Fever, Crimean

NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381

Drug-Induced Immune Thrombocytopenia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily C member 2

susceptibility

associated with Carcinoma, Non-Small-Cell Lung;DNA:SNP, haplotype:promoter,cds: 3972C>T, -24C>T(human)

NCBI chr10:96,385,534...96,458,571
Ensembl chr10:99,889,160...99,947,270

G

dihydropyrimidine dehydrogenase

treatment

associated with Stomach Neoplasms
associated with Neoplasms;DNA:SNP:intron:IVS14+1G>A (human)

PMID:19473056 PMID:23064955

RGD:11098817 RGD:11251740

NCBI chr 1:99,736,145...100,576,663
Ensembl chr 1:98,457,934...99,300,100

G

glutathione S-transferase mu 1

susceptibility
treatment

associated with Ovarian Neoplasms;DNA:deletion: : (human)
associated with diffuse large B-cell lymphoma; DNA:deletion:cds:

PMID:19786980 PMID:20303013

RGD:10450835 RGD:5688741

Ensembl chr 1:127,979,238...128,010,411

G

interleukin 1 alpha

treatment

associated with Carcinoma, Non-Small-Cell Lung
associated with Ovarian Neoplasms

PMID:7666093 PMID:8151314

RGD:11051963 RGD:11051964

NCBI chr2A:89,273,482...89,284,421
Ensembl chr2A:113,784,854...113,795,801

G

interleukin 1 beta

treatment

associated with Glioblastoma;

NCBI chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424

G

platelet and endothelial cell adhesion molecule 1

severity

PMID:10942385 PMID:17234740

RGD:11541093 RGD:11541120

NCBI chr17:58,417,134...58,526,409
Ensembl chr17:63,511,784...63,579,067

G

platelet factor 4

treatment

NCBI chr 4:50,208,806...50,210,570
Ensembl chr 4:56,041,833...56,043,750

Ehlers-Danlos syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ADAM metallopeptidase with thrombospondin type 1 motif 2

susceptibility

ClinVar Annotator: match by term: Ehlers-Danlos syndrome

PMID:10417273 PMID:22863189 PMID:25741868 PMID:28346524 PMID:28492532 More...

NCBI chr 5:174,264,811...174,502,817
Ensembl chr 5:181,557,928...181,786,175

G

ATPase copper transporting alpha

ClinVar Annotator: match by term: Ehlers-Danlos syndrome

PMID:10570920 PMID:11241493 PMID:18414213 PMID:20045993 PMID:23281160 More...

NCBI chr X:67,093,675...67,231,318
Ensembl chr X:77,255,312...77,342,756

G

beta-1,4-galactosyltransferase 7

susceptibility

DNA:transition:exon;808C>T
ClinVar Annotator: match by term: Ehlers-Danlos syndrome

PMID:10473568 PMID:25741868 PMID:28492532 PMID:31278392 PMID:31614862

NCBI chr 5:172,905,749...172,915,970
Ensembl chr 5:179,965,928...179,976,158

G

complement C1r

ClinVar Annotator: match by term: Ehlers-Danlos syndrome

NCBI chr12:7,211,162...7,222,673
Ensembl chr12:7,126,723...7,137,895

G

carbohydrate sulfotransferase 14

ClinVar Annotator: match by term: Ehlers-Danlos syndrome

PMID:25188385 PMID:25741868 PMID:28492532 PMID:32214361

NCBI chr15:19,407,477...19,409,645
Ensembl chr15:37,660,621...37,661,622

G

collagen type I alpha 1 chain

ClinVar Annotator: match by term: Ehlers-Danlos syndrome

PMID:2238087 PMID:7691343 PMID:7695699 PMID:8079666 PMID:8218237 More...

NCBI chr17:44,274,349...44,291,764
Ensembl chr17:49,150,677...49,166,677

G

collagen type I alpha 2 chain

ClinVar Annotator: match by term: Ehlers-Danlos syndrome

PMID:1577745 PMID:1634225 PMID:1712342 PMID:1990839 PMID:2993307 More...

NCBI chr 7:86,344,657...86,381,282
Ensembl chr 7:99,935,185...99,971,803

G

collagen type III alpha 1 chain

ClinVar Annotator: match by term: Ehlers-Danlos syndrome

PMID:2049575 PMID:2235526 PMID:8514866 PMID:9036918 PMID:9399899 More...

NCBI chr2B:76,285,115...76,322,703
Ensembl chr2B:194,204,613...194,242,956

G

collagen type V alpha 1 chain

ClinVar Annotator: match by term: Ehlers-Danlos syndrome

PMID:10471441 PMID:10602121 PMID:10777716 PMID:10946364 PMID:11992482 More...

NCBI chr 9:105,746,388...105,956,280
Ensembl chr 9:134,342,955...134,544,651

G

collagen type V alpha 2 chain

ClinVar Annotator: match by term: Ehlers-Danlos syndrome

PMID:2855059 PMID:9536098 PMID:11940702 PMID:17576681 PMID:25741868 More...

NCBI chr2B:76,339,756...76,487,133
Ensembl chr2B:194,259,316...194,407,237

G

decorin

OMIM:225400

NCBI chr12:88,678,791...88,715,677
Ensembl chr12:91,994,129...92,031,413

G

dermatan sulfate epimerase

ClinVar Annotator: match by term: Ehlers-Danlos syndrome

PMID:25741868 PMID:28492532

NCBI chr 6:114,173,641...114,246,129
Ensembl chr 6:118,347,786...118,386,193

G

fibrillin 2

ClinVar Annotator: match by term: Ehlers-Danlos syndrome

PMID:16835936 PMID:17345643 PMID:17935258 PMID:18414213 PMID:19006240 More...

NCBI chr 5:123,673,209...123,953,741
Ensembl chr 5:129,435,248...129,715,711

G

FKBP prolyl isomerase 14

ClinVar Annotator: match by term: Ehlers-Danlos syndrome

PMID:25741868 PMID:26467025 PMID:28492532 PMID:31428121 PMID:33587123

NCBI chr 7:30,641,413...30,656,507
Ensembl chr 7:30,758,165...30,772,640

G

filamin A

ClinVar Annotator: match by term: Ehlers-Danlos syndrome

NCBI chr X:143,799,088...143,825,282

G

tenascin-X

ClinVar Annotator: match by term: Ehlers-Danlos syndrome

PMID:11642233 PMID:15733269 PMID:20649799 PMID:20853426 PMID:23555315 More...

NCBI chr 6:31,687,994...31,756,279
Ensembl chr 6:32,571,199...32,626,155

G

lysyl oxidase

NCBI chr 5:117,450,833...117,464,957
Ensembl chr 5:123,234,662...123,248,717

G

procollagen-lysine,2-oxoglutarate 5-dioxygenase 1

ClinVar Annotator: match by term: Ehlers-Danlos syndrome

PMID:9220536 PMID:9536098 PMID:9893157 PMID:10329027 PMID:10686424 More...

NCBI chr 1:10,684,608...10,725,376
Ensembl chr 1:11,900,881...11,941,308

G

PR/SET domain 5

ClinVar Annotator: match by term: Ehlers-Danlos syndrome

PMID:21664999 PMID:25741868 PMID:26395458 PMID:28492532 PMID:33739556 More...

NCBI chr 4:112,896,606...113,127,400
Ensembl chr 4:124,036,911...124,252,928

G

solute carrier family 39 member 13

ClinVar Annotator: match by term: Ehlers-Danlos syndrome

PMID:25741868 PMID:28492532

NCBI chr11:47,356,465...47,364,710
Ensembl chr11:47,910,551...47,918,014

G

SMAD family member 3

ClinVar Annotator: match by term: Ehlers-Danlos syndrome

PMID:15350224 PMID:21217753 PMID:22167769 PMID:23554019 PMID:24033266 More...

NCBI chr15:46,013,764...46,143,126
Ensembl chr15:64,284,949...64,414,185

G

transforming growth factor beta 1

protein:increased expression:plasma:

NCBI chr19:38,324,009...38,347,003
Ensembl chr19:46,831,659...46,852,973

G

transforming growth factor beta 2

ClinVar Annotator: match by term: Ehlers-Danlos syndrome

PMID:22772371 PMID:24465802 PMID:25741868 PMID:26017485 PMID:28139901 More...

NCBI chr 1:193,907,398...194,005,800
Ensembl chr 1:198,758,751...198,859,041

G

transforming growth factor beta receptor 1

ClinVar Annotator: match by term: Ehlers-Danlos syndrome

PMID:2511639 PMID:16928994 PMID:18781618 PMID:20332227 PMID:21358634 More...

NCBI chr 9:70,195,007...70,243,514
Ensembl chr 9:98,332,739...98,362,748

G

transforming growth factor beta receptor 2

ClinVar Annotator: match by term: Ehlers-Danlos syndrome

PMID:8246946 PMID:9395234 PMID:9590282 PMID:11212236 PMID:16791849 More...

NCBI chr 3:30,536,187...30,623,653
Ensembl chr 3:30,854,460...30,938,856

G

thrombospondin 2

ClinVar Annotator: match by term: Ehlers-Danlos syndrome

PMID:25741868 PMID:38433265

NCBI chr 6:167,290,482...167,329,319
Ensembl chr 6:172,130,727...172,169,028

G

zinc finger protein 469

ClinVar Annotator: match by term: Ehlers-Danlos syndrome

PMID:23642083 PMID:23680354 PMID:24082139 PMID:24895405 PMID:25097247 More...

NCBI chr16:68,777,496...69,151,995
Ensembl chr16:88,803,202...88,815,390

Ehlers-Danlos syndrome arthrochalasia type 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

collagen type I alpha 1 chain

ClinVar Annotator: match by term: Arthrochalasis multiplex congenita | ClinVar Annotator: match by term: EDS VII, MUTANT PROCOLLAGEN TYPE | ClinVar Annotator: match by term: Ehlers-Danlos syndrome arthrochalasia type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome type 7A | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, arthrochalasia type, 1

PMID:2037280 PMID:2542316 PMID:7691343 PMID:7695699 PMID:7942841 More...

NCBI chr17:44,274,349...44,291,764
Ensembl chr17:49,150,677...49,166,677

G

collagen type I alpha 2 chain

ClinVar Annotator: match by term: Arthrochalasis multiplex congenita | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, arthrochalasia type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 7A
ClinVar Annotator: match by term: Ehlers-Danlos syndrome arthrochalasia type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, arthrochalasia type, 1

PMID:7695699 PMID:8218237 PMID:9016532 PMID:17078022 PMID:19344236 More...

NCBI chr 7:86,344,657...86,381,282
Ensembl chr 7:99,935,185...99,971,803

G

collagen type V alpha 1 chain

ClinVar Annotator: match by term: Ehlers-Danlos syndrome arthrochalasia type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome type 7A
ClinVar Annotator: match by term: Ehlers-Danlos syndrome type 7A | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, arthrochalasia type, 1

PMID:9536098 PMID:10471441 PMID:10602121 PMID:10946364 PMID:11992482 More...

NCBI chr 9:105,746,388...105,956,280
Ensembl chr 9:134,342,955...134,544,651

G

collagen type V alpha 2 chain

ClinVar Annotator: match by term: Ehlers-Danlos syndrome arthrochalasia type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome type 7A
ClinVar Annotator: match by term: Ehlers-Danlos syndrome type 7A | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, arthrochalasia type, 1

PMID:9536098 PMID:17576681 PMID:25326637 PMID:25741868 PMID:28087566 More...

NCBI chr2B:76,339,756...76,487,133
Ensembl chr2B:194,259,316...194,407,237

Ehlers-Danlos syndrome arthrochalasia type 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

collagen type I alpha 1 chain

ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, TYPE VIIB, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Ehlers-danlos syndrome, arthrochalasia type, 2

PMID:7942841 PMID:9295084 PMID:9443882 PMID:18311573 PMID:21667357 More...

NCBI chr17:44,274,349...44,291,764
Ensembl chr17:49,150,677...49,166,677

G

collagen type I alpha 2 chain

ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 2 | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, TYPE VIIB, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Ehlers-danlos syndrome, arthrochalasia type, 2

PMID:1556139 PMID:1577745 PMID:1712342 PMID:1978725 PMID:1990839 More...

NCBI chr 7:86,344,657...86,381,282
Ensembl chr 7:99,935,185...99,971,803

Ehlers-Danlos syndrome cardiac valvular type

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

albumin

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, arthrochalasis type

PMID:2404284 PMID:8347685

NCBI chr 4:50,773,244...50,790,474
Ensembl chr 4:56,605,322...56,622,418

G

collagen type I alpha 1 chain

ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR TYPE | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, arthrochalasis type
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, arthrochalasis type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, arthrochalasis type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, cardiac valvular type

PMID:1867198 PMID:2037280 PMID:2542316 PMID:2767050 PMID:3082886 More...

NCBI chr17:44,274,349...44,291,764
Ensembl chr17:49,150,677...49,166,677

G

collagen type I alpha 2 chain

ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR TYPE | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, arthrochalasis type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, cardiac valvular type

PMID:3049731 PMID:3383844 PMID:7695699 PMID:7860070 PMID:8094076 More...

NCBI chr 7:86,344,657...86,381,282
Ensembl chr 7:99,935,185...99,971,803

Ehlers-Danlos syndrome classic type 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type

NCBI chr 9:104,354,115...104,399,057
Ensembl chr 9:132,989,574...133,010,324

G

ADAM metallopeptidase with thrombospondin type 1 motif 13

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type

NCBI chr 9:104,541,051...104,582,574
Ensembl chr 9:133,156,761...133,193,707

G

ADAMTS like 2

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type

NCBI chr 9:104,658,540...104,698,854
Ensembl chr 9:133,269,369...133,309,602

G

AE binding protein 1

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1

PMID:25741868 PMID:30759870

NCBI chr 7:44,818,620...44,828,914
Ensembl chr 7:44,886,238...44,896,194

G

adenylate kinase 8

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type

NCBI chr 9:103,842,850...103,995,331
Ensembl chr 9:132,473,495...132,625,313

G

BarH like homeobox 1

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type

NCBI chr 9:103,698,024...103,709,834
Ensembl chr 9:132,331,770...132,338,661

G

bromodomain containing 3

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type

NCBI chr 9:105,151,354...105,189,754
Ensembl chr 9:133,759,111...133,782,419

G

calcium channel flower domain containing 1

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type

NCBI chr 9:104,582,983...104,593,960
Ensembl chr 9:133,194,490...133,205,686

G

calmodulin regulated spectrin associated protein 1

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1

PMID:28492532 PMID:29907982

NCBI chr 9:106,881,023...106,979,501
Ensembl chr 9:135,866,980...135,944,911

G

caspase recruitment domain family member 9

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1

PMID:28492532 PMID:29907982

NCBI chr 9:107,432,709...107,446,271
Ensembl chr 9:136,416,279...136,424,756

G

CAS1 domain containing 1

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type

NCBI chr 7:86,459,449...86,520,559
Ensembl chr 7:100,053,248...100,096,887

G

carboxyl ester lipase

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type

NCBI chr 9:104,180,310...104,191,434
Ensembl chr 9:132,810,986...132,821,010

G

cilia and flagella associated protein 77

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type

NCBI chr 9:103,528,991...103,690,634
Ensembl chr 9:132,162,008...132,322,666

G

collagen type I alpha 1 chain

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1

PMID:10739762 PMID:16786509 PMID:17211858 PMID:23587214 PMID:25597651 More...

NCBI chr17:44,274,349...44,291,764
Ensembl chr17:49,150,677...49,166,677

G

collagen type I alpha 2 chain

ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1
ClinVar Annotator: match by term: EDS I | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, GRAVIS TYPE | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1

PMID:458828 PMID:1978725 PMID:1990009 PMID:2010058 PMID:2052622 More...

NCBI chr 7:86,344,657...86,381,282
Ensembl chr 7:99,935,185...99,971,803

G

collagen type III alpha 1 chain

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1

PMID:20648054 PMID:22696272 PMID:23587214 PMID:24922459 PMID:28492532

NCBI chr2B:76,285,115...76,322,703
Ensembl chr2B:194,204,613...194,242,956

G

collagen type V alpha 1 chain

ClinVar Annotator: match by term: EDS I | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, GRAVIS TYPE | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, SEVERE CLASSIC TYPE | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1
ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1

PMID:7695699 PMID:8218237 PMID:8575750 PMID:8923000 PMID:8950675 More...

NCBI chr 9:105,746,388...105,956,280
Ensembl chr 9:134,342,955...134,544,651

G

collagen type V alpha 2 chain

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1
ClinVar Annotator: match by term: EDS I | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, GRAVIS TYPE | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, SEVERE CLASSIC TYPE | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1
ClinVar Annotator: match by term: EDS I | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, GRAVIS TYPE | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, SEVERE CLASSIC TYPE | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1
ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, SEVERE CLASSIC TYPE | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1

PMID:2855059 PMID:7695699 PMID:8218237 PMID:9425231 PMID:9536098 More...

NCBI chr2B:76,339,756...76,487,133
Ensembl chr2B:194,259,316...194,407,237

G

dopamine beta-hydroxylase

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type

NCBI chr 9:104,761,504...104,784,445
Ensembl chr 9:133,371,821...133,393,697

G

DEAD-box helicase 31

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type

NCBI chr 9:103,665,553...103,787,705
Ensembl chr 9:132,341,965...132,418,713

G

DNL-type zinc finger

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1

PMID:28492532 PMID:29907982

NCBI chr 9:107,432,709...107,436,360

G

endosome associated trafficking regulator 1

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1

PMID:28492532 PMID:29907982

NCBI chr 9:107,474,676...107,483,625
Ensembl chr 9:136,454,597...136,463,414

G

family with sequence similarity 163 member B

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type

NCBI chr 9:104,700,420...104,734,748
Ensembl chr 9:133,311,168...133,343,841

G

filamin A

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type

NCBI chr X:143,799,088...143,825,282

G

globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 (FORS blood group)

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type

NCBI chr 9:104,273,080...104,284,268
Ensembl chr 9:132,889,064...132,897,832

G

growth factor independent 1B transcriptional repressor

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type

NCBI chr 9:104,061,236...104,113,208
Ensembl chr 9:132,692,343...132,742,326

G

glycosyltransferase 6 domain containing 1

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1

PMID:28492532 PMID:29907982

NCBI chr 9:106,714,367...106,717,245
Ensembl chr 9:135,705,743...135,708,268

G

G protein signaling modulator 1

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1

PMID:28492532 PMID:29907982

NCBI chr 9:107,400,819...107,432,165
Ensembl chr 9:136,383,929...136,410,561

G

general transcription factor IIIC subunit 4

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type

NCBI chr 9:103,787,645...103,812,319
Ensembl chr 9:132,418,653...132,437,082

G

general transcription factor IIIC subunit 5

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type

NCBI chr 9:104,150,392...104,178,242
Ensembl chr 9:132,779,664...132,807,518

G

inositol polyphosphate-5-phosphatase E

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1

PMID:28492532 PMID:29907982

NCBI chr 9:107,502,838...107,516,325
Ensembl chr 9:136,483,144...136,492,731

G

potassium sodium-activated channel subfamily T member 1

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1

PMID:28492532 PMID:29907982

NCBI chr 9:106,773,184...106,867,490
Ensembl chr 9:135,763,956...135,852,482

G

lipocalin 1

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1

PMID:28492532 PMID:29907982

NCBI chr 9:106,662,265...106,667,575
Ensembl chr 9:135,654,722...135,659,869

G

lipocalin 9

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1

PMID:28492532 PMID:29907982

G

LIM homeobox 3

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1

PMID:28492532 PMID:29907982

NCBI chr 9:107,271,131...107,280,001
Ensembl chr 9:136,252,880...136,260,366

G

long intergenic non-protein coding RNA 2907

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1

PMID:28492532 PMID:29907982

NCBI chr 9:106,481,811...106,482,817

G

uncharacterized protein C9orf163

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1

PMID:28492532 PMID:29907982

NCBI chr 9:107,561,734...107,562,397

G

surfeit locus protein 1

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type

NCBI chr 9:104,475,018...104,479,714
Ensembl chr 9:133,085,739...133,088,904

G

ficolin-2

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1

PMID:28492532 PMID:29907982

NCBI chr 9:105,995,807...106,020,389
Ensembl chr 9:134,997,038...135,018,992

G

ficolin-1

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1

PMID:28492532 PMID:29907982

NCBI chr 9:106,039,315...106,047,648
Ensembl chr 9:135,040,310...135,049,111

G

lumican

OMIM:130000

NCBI chr12:88,636,825...88,644,665
Ensembl chr12:91,952,277...91,960,388

G

mediator complex subunit 12

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type

NCBI chr X:60,386,820...60,410,730
Ensembl chr X:70,443,667...70,466,942

G

mediator complex subunit 22

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type

NCBI chr 9:104,464,103...104,471,294
Ensembl chr 9:133,074,826...133,082,071

G

mediator complex subunit 27

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type

NCBI chr 9:102,982,174...103,199,512
Ensembl chr 9:131,619,441...131,835,951

G

mitochondrial ribosomal protein S2

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1

PMID:28492532 PMID:29907982

NCBI chr 9:106,640,673...106,645,374
Ensembl chr 9:135,633,900...135,637,926

G

myosin heavy chain 11

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type

PMID:25741868 PMID:28492532

Ensembl chr16:16,007,168...16,091,058

G

myomaker, myoblast fusion factor

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type

NCBI chr 9:104,638,011...104,668,204
Ensembl chr 9:133,248,761...133,259,631

G

NACC family member 2

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1

PMID:28492532 PMID:29907982

NCBI chr 9:107,079,113...107,168,332
Ensembl chr 9:136,066,229...136,105,176

G

notch receptor 1

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1

PMID:28492532 PMID:29907982

NCBI chr 9:107,568,670...107,621,032
Ensembl chr 9:136,544,639...136,598,740

G

netrin G2

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type

NCBI chr 9:103,281,915...103,362,786
Ensembl chr 9:131,917,760...131,998,107

G

odorant binding protein 2B

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type

NCBI chr 9:104,291,500...104,331,592
Ensembl chr 9:132,939,353...132,943,117

G

olfactomedin 1

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1

PMID:28492532 PMID:29907982

NCBI chr 9:106,206,133...106,253,386
Ensembl chr 9:135,205,710...135,252,598

G

progestagen associated endometrial protein

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1

PMID:28492532 PMID:29907982

NCBI chr 9:106,669,550...106,681,918

G

piercer of microtubule wall 1

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1

PMID:28492532 PMID:29907982

NCBI chr 9:106,635,911...106,641,274
Ensembl chr 9:135,628,471...135,633,837

G

peptidase, mitochondrial processing subunit alpha

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1

PMID:28492532 PMID:29907982

NCBI chr 9:107,483,608...107,499,176
Ensembl chr 9:136,464,070...136,477,569

G

protein O-mannosyltransferase 1

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type

NCBI chr 9:102,625,290...102,646,066
Ensembl chr 9:131,265,750...131,285,881

G

protein phosphatase 1 regulatory subunit 26

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1

PMID:28492532 PMID:29907982

NCBI chr 9:106,620,368...106,629,655

G

quiescin sulfhydryl oxidase 2

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1

PMID:28492532 PMID:29907982

NCBI chr 9:107,281,207...107,320,420
Ensembl chr 9:136,261,578...136,282,774

G

ral guanine nucleotide dissociation stimulator

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1

NCBI chr 9:104,218,338...104,269,322
Ensembl chr 9:132,832,924...132,865,901

G

Rap guanine nucleotide exchange factor 1

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type

NCBI chr 9:102,698,970...102,861,482
Ensembl chr 9:131,337,001...131,495,664

G

REX4 homolog, 3'-5' exonuclease

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type

NCBI chr 9:104,528,838...104,540,813
Ensembl chr 9:133,140,392...133,152,413

G

ribosomal protein L7a

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type

NCBI chr 9:104,471,317...104,474,619
Ensembl chr 9:133,082,079...133,085,340

G

retinoid X receptor alpha

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type

NCBI chr 9:105,424,046...105,539,241
Ensembl chr 9:134,082,865...134,144,704

G

sarcosine dehydrogenase

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type

NCBI chr 9:104,786,774...104,864,480
Ensembl chr 9:133,398,806...133,473,642

G

SEC16 homolog A, endoplasmic reticulum export factor

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1

PMID:28492532 PMID:29907982

NCBI chr 9:107,516,556...107,560,930
Ensembl chr 9:136,493,957...136,533,655

G

senataxin

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type

NCBI chr 9:103,381,356...103,474,902
Ensembl chr 9:132,016,767...132,109,665

G

sarcoglycan epsilon

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type

NCBI chr 7:86,535,215...86,606,114

G

solute carrier family 2 member 10

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type

NCBI chr20:43,043,801...43,068,304
Ensembl chr20:44,128,837...44,153,148

G

solute carrier family 2 member 6

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type

NCBI chr 9:104,589,227...104,602,769
Ensembl chr 9:133,205,995...133,214,051

G

solute carrier family 40 member 1

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type

PMID:20648054 PMID:23587214 PMID:28492532

NCBI chr2B:76,867,908...76,888,403
Ensembl chr2B:194,787,575...194,810,993

G

small nuclear RNA activating complex polypeptide 4

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1

PMID:28492532 PMID:29907982

NCBI chr 9:107,448,180...107,473,022
Ensembl chr 9:136,428,732...136,450,653

G

spermatogenesis and oogenesis specific basic helix-loop-helix 1

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1

PMID:28492532 PMID:29907982

NCBI chr 9:106,765,101...106,786,836
Ensembl chr 9:135,755,100...135,761,228

G

sperm acrosome associated 9

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type

NCBI chr 9:103,994,592...104,006,390
Ensembl chr 9:132,625,393...132,636,686

G

serine/threonine kinase like domain containing 1

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type

NCBI chr 9:104,499,706...104,528,872
Ensembl chr 9:133,111,802...133,140,430

G

surfeit 2

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type

NCBI chr 9:104,479,741...104,484,493
Ensembl chr 9:133,091,321...133,096,054

G

surfeit 4

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type

NCBI chr 9:104,484,792...104,499,508
Ensembl chr 9:133,096,353...133,103,007

G

surfeit 6

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type

NCBI chr 9:104,453,832...104,459,589
Ensembl chr 9:133,064,755...133,070,302

G

transforming growth factor beta receptor 1

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type

NCBI chr 9:70,195,007...70,243,514
Ensembl chr 9:98,332,739...98,362,748

G

transmembrane protein 250

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1

PMID:28492532 PMID:29907982

NCBI chr 9:107,187,362...107,191,642
Ensembl chr 9:136,170,880...136,171,292

G

TSC complex subunit 1

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type

NCBI chr 9:104,007,708...104,060,938
Ensembl chr 9:132,638,003...132,675,759

G

transcription termination factor 1

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type

NCBI chr 9:103,495,737...103,525,775
Ensembl chr 9:132,129,318...132,158,660

G

UBA domain containing 1

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1

PMID:28492532 PMID:29907982

NCBI chr 9:107,004,643...107,033,286
Ensembl chr 9:135,988,020...136,016,046

G

uridine-cytidine kinase 1

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type

NCBI chr 9:102,646,056...102,653,525
Ensembl chr 9:131,285,877...131,293,338

G

vav guanine nucleotide exchange factor 2

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type

NCBI chr 9:104,883,197...105,115,143
Ensembl chr 9:133,494,481...133,668,036

G

WD repeat domain 5

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type

NCBI chr 9:105,241,415...105,265,925
Ensembl chr 9:133,848,185...133,872,889

G

WD repeat domain 75

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type

PMID:20648054 PMID:23587214 PMID:28492532

NCBI chr2B:76,748,487...76,782,649
Ensembl chr2B:194,668,211...194,702,343

Ehlers-Danlos syndrome classic type 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

collagen type I alpha 2 chain

ClinVar Annotator: match by term: EDS II | ClinVar Annotator: match by term: EHLERS DANLOS SYNDROME, MITIS TYPE | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, TYPE II

PMID:458828 PMID:1978725 PMID:2010058 PMID:2824475 PMID:2985635 More...

NCBI chr 7:86,344,657...86,381,282
Ensembl chr 7:99,935,185...99,971,803

G

collagen type V alpha 1 chain

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 2 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 2

PMID:15580559 PMID:22696272 PMID:25741868 PMID:28492532 PMID:32720758 More...

NCBI chr 9:105,746,388...105,956,280
Ensembl chr 9:134,342,955...134,544,651

G

collagen type V alpha 2 chain

ClinVar Annotator: match by term: COL5A2-related condition | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 2 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 2

PMID:2855059 PMID:9536098 PMID:11940702 PMID:16199547 PMID:17576681 More...

NCBI chr2B:76,339,756...76,487,133
Ensembl chr2B:194,259,316...194,407,237

Ehlers-Danlos syndrome classic-like 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

tenascin-X

ClinVar Annotator: match by term: Ehlers-Danlos syndrome due to tenascin-X deficiency

PMID:11642233 PMID:11925569 PMID:12865992 PMID:15733269 PMID:20649799 More...

NCBI chr 6:31,687,994...31,756,279
Ensembl chr 6:32,571,199...32,626,155

Ehlers-Danlos syndrome classic-like 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

AE binding protein 1

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic-like, 2

PMID:16199547 PMID:25741868 PMID:27023906 PMID:28492532 PMID:29606302 More...

NCBI chr 7:44,818,620...44,828,914
Ensembl chr 7:44,886,238...44,896,194

Ehlers-Danlos syndrome dermatosparaxis type

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ADAM metallopeptidase with thrombospondin type 1 motif 2

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type

PMID:1642226 PMID:7735500 PMID:8215497 PMID:8986271 PMID:9536098 More...

NCBI chr 5:174,264,811...174,502,817
Ensembl chr 5:181,557,928...181,786,175

G

ADP ribosylation factor like GTPase 10

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type

PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More...

NCBI chr 5:171,662,241...171,670,512

G

beta-1,4-galactosyltransferase 7

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type

PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More...

NCBI chr 5:172,905,749...172,915,970
Ensembl chr 5:179,965,928...179,976,158

G

calnexin

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type

PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More...

NCBI chr 5:174,832,964...174,884,804
Ensembl chr 5:182,167,012...182,197,403

G

chibby family member 3

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type

PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More...

NCBI chr 5:174,832,765...174,835,259
Ensembl chr 5:182,145,125...182,148,896

G

cadherin related family member 2

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type

PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More...

NCBI chr 5:171,846,538...171,893,797
Ensembl chr 5:178,916,707...178,964,893

G

CDC like kinase 4

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type

PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More...

NCBI chr 5:173,760,420...173,784,851
Ensembl chr 5:181,017,365...181,037,919

G

clathrin light chain B

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type

PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More...

NCBI chr 5:171,689,273...171,713,198

G

collagen type XXIII alpha 1 chain

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type

PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More...

NCBI chr 5:173,399,146...173,750,380
Ensembl chr 5:180,657,408...181,005,593

G

complexin 2

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type

PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More...

NCBI chr 5:171,144,671...171,233,028
Ensembl chr 5:178,115,947...178,128,595

G

drebrin 1

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type

PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More...

NCBI chr 5:172,758,316...172,774,974
Ensembl chr 5:179,820,791...179,836,872

G

DEAD-box helicase 41

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type

PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More...

NCBI chr 5:172,812,755...172,818,217
Ensembl chr 5:179,873,626...179,884,402

G

docking protein 3

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type

PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More...

NCBI chr 5:172,803,094...172,812,613
Ensembl chr 5:179,864,910...179,874,190

G

eukaryotic translation initiation factor 4E family member 1B

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type

PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More...

NCBI chr 5:171,941,013...171,944,691
Ensembl chr 5:179,010,207...179,014,809

G

coagulation factor XII

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type

PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More...

NCBI chr 5:172,703,724...172,711,618
Ensembl chr 5:179,766,243...179,773,485

G

Fas associated factor family member 2

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type

PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More...

NCBI chr 5:171,743,071...171,804,687
Ensembl chr 5:178,814,100...178,876,108

G

family with sequence similarity 193 member B

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type

PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More...

NCBI chr 5:172,820,255...172,855,574
Ensembl chr 5:179,884,021...179,915,964

G

fibroblast growth factor receptor 4

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type

PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More...

NCBI chr 5:172,386,443...172,400,271
Ensembl chr 5:179,454,995...179,467,605

G

G protein regulated inducer of neurite outgrowth 1

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type

PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More...

NCBI chr 5:171,893,831...171,915,437

G

G protein-coupled receptor kinase 6

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type

PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More...

NCBI chr 5:172,704,978...172,744,907
Ensembl chr 5:179,790,662...179,807,410

G

glutamate metabotropic receptor 6

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type

PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More...

NCBI chr 5:174,142,754...174,156,294
Ensembl chr 5:181,434,031...181,447,341

G

HIG1 hypoxia inducible domain family member 2A

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type

PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More...

NCBI chr 5:171,685,512...171,686,527
Ensembl chr 5:178,757,667...178,758,676

G

hexokinase 3

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type

PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More...

NCBI chr 5:172,181,600...172,200,418
Ensembl chr 5:179,248,155...179,266,533

G

heterogeneous nuclear ribonucleoprotein A/B

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type

PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More...

NCBI chr 5:173,364,301...173,370,974

G

heterogeneous nuclear ribonucleoprotein H1

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type

PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More...

NCBI chr 5:174,764,771...174,775,201
Ensembl chr 5:182,044,549...182,053,635

G

KIAA1191 ortholog

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type

PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More...

NCBI chr 5:171,643,324...171,659,039
Ensembl chr 5:178,716,275...178,731,506

G

lectin, mannose binding 2

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type

PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More...

NCBI chr 5:172,619,011...172,653,303
Ensembl chr 5:179,696,018...179,716,076

G

protein FAM153A

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type

PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More...

NCBI chr 5:173,014,034...173,045,815

G

protein FAM153B

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type

PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More...

NCBI chr 5:171,404,329...171,434,609

G

leukotriene C4 synthase

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type

PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More...

NCBI chr 5:174,946,346...174,950,805

G

mastermind like transcriptional coactivator 1

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type

PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More...

NCBI chr 5:174,886,694...174,931,153
Ensembl chr 5:182,230,351...182,242,296

G

alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase B

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type

PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More...

NCBI chr 5:174,951,892...174,961,201
Ensembl chr 5:182,262,583...182,267,676

G

MAX dimerization protein 3

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type

PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More...

NCBI chr 5:172,609,158...172,615,345
Ensembl chr 5:179,673,135...179,677,842

G

NEDD4 binding protein 3

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type

PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More...

NCBI chr 5:173,272,475...173,286,062
Ensembl chr 5:180,531,017...180,544,005

G

NHP2 ribonucleoprotein

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type

PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More...

NCBI chr 5:173,308,560...173,313,046
Ensembl chr 5:180,566,008...180,570,502

G

NOP16 nucleolar protein

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type

PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More...

NCBI chr 5:171,680,699...171,685,361
Ensembl chr 5:178,751,464...178,757,841

G

nuclear receptor binding SET domain protein 1

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type

PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More...

NCBI chr 5:172,431,968...172,602,174
Ensembl chr 5:179,499,865...179,666,351

G

PDZ and LIM domain 7

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type

PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More...

NCBI chr 5:172,784,656...172,798,875
Ensembl chr 5:179,846,476...179,860,619

G

profilin 3

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type

PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More...

NCBI chr 5:172,701,579...172,702,237
Ensembl chr 5:179,764,113...179,764,526

G

5-phosphohydroxy-L-lysine phospho-lyase

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type

PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More...

NCBI chr 5:173,368,383...173,394,377
Ensembl chr 5:180,625,530...180,651,618

G

PRELI domain containing 1

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type

PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More...

NCBI chr 5:172,605,767...172,608,901
Ensembl chr 5:179,669,885...179,672,965

G

PROP paired-like homeobox 1

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type

PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More...

NCBI chr 5:173,086,726...173,090,461

G

proline rich 7, synaptic

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type

PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More...

NCBI chr 5:172,748,020...172,757,989
Ensembl chr 5:179,818,184...179,821,479

G

RAB24, member RAS oncogene family

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type

PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More...

NCBI chr 5:172,603,410...172,605,696
Ensembl chr 5:179,667,583...179,669,864

G

regulator of G protein signaling 14

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type

PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More...

NCBI chr 5:172,659,323...172,674,084
Ensembl chr 5:179,721,876...179,739,453

G

required for meiotic nuclear division 5 homolog B

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type

PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More...

NCBI chr 5:173,290,007...173,307,663
Ensembl chr 5:180,548,381...180,565,094

G

ring finger protein 44

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type

PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More...

NCBI chr 5:171,824,102...171,840,582

G

RUN and FYVE domain containing 1

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type

PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More...

NCBI chr 5:174,699,240...174,760,876
Ensembl chr 5:181,978,601...182,039,332

G

SUMO interacting motifs containing 1

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type

PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More...

NCBI chr 5:171,543,624...171,643,253
Ensembl chr 5:178,663,009...178,715,676

G

solute carrier family 34 member 1

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type

PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More...

NCBI chr 5:172,685,862...172,700,440
Ensembl chr 5:179,748,492...179,762,975

G

synuclein beta

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type

PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More...

NCBI chr 5:171,918,297...171,928,672
Ensembl chr 5:178,988,439...178,998,800

G

sequestosome 1

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type

PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More...

NCBI chr 5:174,960,727...174,989,946
Ensembl chr 5:182,284,436...182,299,093

G

THO complex subunit 3

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type

PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More...

NCBI chr 5:171,310,321...171,319,192
Ensembl chr 5:178,205,744...178,214,684

G

transmembrane p24 trafficking protein 9

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type

PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More...

NCBI chr 5:172,897,814...172,901,789
Ensembl chr 5:179,957,842...179,963,279

G

tetraspanin 17

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type

PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More...

NCBI chr 5:171,944,792...171,959,797
Ensembl chr 5:179,015,641...179,030,941

G

ubiquitin interaction motif containing 1

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type

PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More...

NCBI chr 5:172,205,958...172,321,758
Ensembl chr 5:179,271,577...179,374,229

G

unc-5 netrin receptor A

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type

PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More...

NCBI chr 5:172,110,396...172,181,839
Ensembl chr 5:179,181,251...179,248,377

G

ZFP2 zinc finger protein

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type

PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More...

NCBI chr 5:174,046,319...174,095,463
Ensembl chr 5:181,349,149...181,350,534

G

zinc finger protein 346

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type

PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More...

NCBI chr 5:172,321,875...172,386,462
Ensembl chr 5:179,390,239...179,449,071

G

zinc finger protein 354A

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type

PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More...

NCBI chr 5:173,869,993...173,931,852
Ensembl chr 5:181,126,400...181,141,632

G

zinc finger protein 354B

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type

PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More...

NCBI chr 5:174,022,352...174,046,169
Ensembl chr 5:181,278,382...181,303,119

G

zinc finger protein 354C

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type

PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More...

NCBI chr 5:174,221,135...174,247,281
Ensembl chr 5:181,512,177...181,535,130

G

zinc finger protein 454

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type

PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More...

NCBI chr 5:174,103,394...174,129,719
Ensembl chr 5:181,381,728...181,383,046

G

zinc finger protein 879

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type

PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More...

NCBI chr 5:174,184,543...174,195,297
Ensembl chr 5:181,474,353...181,486,734

Ehlers-Danlos syndrome hypermobility type

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

collagen type III alpha 1 chain

ClinVar Annotator: match by term: Ehlers-Danlos Syndrome, Hypermobility Type

PMID:25741868 PMID:25758994 PMID:26854089 PMID:28087566 PMID:28492532 More...

NCBI chr2B:76,285,115...76,322,703
Ensembl chr2B:194,204,613...194,242,956

G

tenascin-X

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 3

PMID:25326637 PMID:25741868

NCBI chr 6:31,687,994...31,756,279
Ensembl chr 6:32,571,199...32,626,155

G

notch receptor 1

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 3

NCBI chr 9:107,568,670...107,621,032
Ensembl chr 9:136,544,639...136,598,740

Ehlers-Danlos syndrome kyphoscoliotic type 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

chloride voltage-gated channel 6

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type 1

NCBI chr 1:10,568,222...10,605,459
Ensembl chr 1:11,785,643...11,822,505

G

KIAA2013 ortholog

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type 1

NCBI chr 1:10,669,585...10,676,372

G

mitofusin 2

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, hydroxylysine-deficient | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type 1

NCBI chr 1:10,729,933...10,764,865
Ensembl chr 1:11,945,880...11,981,077

G

methylenetetrahydrofolate reductase

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type 1

NCBI chr 1:10,548,196...10,568,174
Ensembl chr 1:11,766,334...11,785,419

G

natriuretic peptide A

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type 1

NCBI chr 1:10,608,025...10,610,287
Ensembl chr 1:11,825,072...11,827,373

G

natriuretic peptide B

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type 1

NCBI chr 1:10,621,416...10,622,960
Ensembl chr 1:11,838,518...11,839,995

G

procollagen-lysine,2-oxoglutarate 5-dioxygenase 1

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, hydroxylysine-deficient | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type 1 | ClinVar Annotator: match by term: Nevo syndrome

PMID:222849 PMID:416188 PMID:1345174 PMID:3110540 PMID:3931636 More...

NCBI chr 1:10,684,608...10,725,376
Ensembl chr 1:11,900,881...11,941,308

Ehlers-Danlos syndrome kyphoscoliotic type 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

aquaporin 1 (Colton blood group)

ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss

NCBI chr 7:31,524,933...31,538,602
Ensembl chr 7:31,644,331...31,658,141

G

corticotropin releasing hormone receptor 2

ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss

NCBI chr 7:31,265,619...31,313,902
Ensembl chr 7:31,386,026...31,434,220

G

FKBP prolyl isomerase 14

ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 2 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss

PMID:9536098 PMID:16199547 PMID:17576681 PMID:22265013 PMID:24677762 More...

NCBI chr 7:30,641,413...30,656,507
Ensembl chr 7:30,758,165...30,772,640

G

glycyl-tRNA synthetase 1

ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss

NCBI chr 7:31,208,351...31,247,841
Ensembl chr 7:31,329,456...31,368,582

G

gamma-glutamylcyclotransferase

ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss

NCBI chr 7:31,125,964...31,134,330
Ensembl chr 7:31,247,760...31,255,903

G

growth hormone releasing hormone receptor

ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss

NCBI chr 7:31,582,134...31,592,914
Ensembl chr 7:31,696,914...31,712,200

G

indolethylamine N-methyltransferase

ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss

NCBI chr 7:31,359,126...31,369,757
Ensembl chr 7:31,485,671...31,489,661

G

MINDY lysine 48 deubiquitinase 4

ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss

NCBI chr 7:31,384,527...31,505,551
Ensembl chr 7:31,504,351...31,625,097

G

maturin, neural progenitor differentiation regulator homolog

ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss

NCBI chr 7:30,766,592...30,794,436

G

nucleotide binding oligomerization domain containing 1

ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss

NCBI chr 7:31,060,245...31,109,012
Ensembl chr 7:31,182,275...31,208,742

G

pleckstrin homology domain containing A8

ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss

NCBI chr 7:30,657,504...30,762,105
Ensembl chr 7:30,774,203...30,877,631

G

zinc and ring finger 2

ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss

NCBI chr 7:30,922,235...31,006,950

Ehlers-Danlos syndrome musculocontractural type 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

carbohydrate sulfotransferase 14

ClinVar Annotator: match by term: ARTHROGRYPOSIS, DISTAL, WITH PECULIAR FACIES AND HYDRONEPHROSIS | ClinVar Annotator: match by term: Adducted Thumb-Clubfoot Syndrome | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, musculocontractural type 1

PMID:1184396 PMID:2202212 PMID:9084938 PMID:10766984 PMID:11370633 More...

NCBI chr15:19,407,477...19,409,645
Ensembl chr15:37,660,621...37,661,622

Ehlers-Danlos syndrome musculocontractural type 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

dermatan sulfate epimerase

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, musculocontractural type 2

PMID:23704329 PMID:25703627 PMID:25741868 PMID:28492532

NCBI chr 6:114,173,641...114,246,129
Ensembl chr 6:118,347,786...118,386,193

Ehlers-Danlos syndrome periodontal type 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

complement C1r

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, periodontal type 1

PMID:890102 PMID:2260589 PMID:12776252 PMID:22739343 PMID:25741868 More...

NCBI chr12:7,211,162...7,222,673
Ensembl chr12:7,126,723...7,137,895

G

complement C1r subcomponent like

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, periodontal type 1

PMID:25741868 PMID:27745832

NCBI chr12:7,224,675...7,239,524
Ensembl chr12:7,139,094...7,155,196

G

complement C1s

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, periodontal type 1

NCBI chr12:7,191,679...7,202,036
Ensembl chr12:7,106,157...7,117,614

Ehlers-Danlos syndrome periodontal type 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

complement C1r

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, periodontal type 2

PMID:890102 PMID:2260589 PMID:12776252 PMID:22739343 PMID:25741868 More...

NCBI chr12:7,211,162...7,222,673
Ensembl chr12:7,126,723...7,137,895

G

complement C1r subcomponent like

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, periodontal type 2

PMID:25741868 PMID:27745832

NCBI chr12:7,224,675...7,239,524
Ensembl chr12:7,139,094...7,155,196

G

complement C1s

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, periodontal type 2

PMID:25741868 PMID:27745832 PMID:28492532

NCBI chr12:7,191,679...7,202,036
Ensembl chr12:7,106,157...7,117,614

Ehlers-Danlos syndrome spondylodysplastic type 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

beta-1,3-galactosyltransferase 6

CTD Direct Evidence: marker/mechanism

G

beta-1,4-galactosyltransferase 7

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 1

PMID:1221956 PMID:1640425 PMID:9536098 PMID:15211654 PMID:17576681 More...

NCBI chr 5:172,905,749...172,915,970
Ensembl chr 5:179,965,928...179,976,158

Ehlers-Danlos syndrome spondylodysplastic type 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ArfGAP with coiled-coil, ankyrin repeat and PH domains 3

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 1:46,883...62,642
Ensembl chr 1:1,249,719...1,259,645

G

actin related protein T2

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 1:1,680,590...1,682,020
Ensembl chr 1:2,818,917...2,820,050

G

agrin

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

Ensembl chr 1:936,000...966,808

G

ankyrin repeat domain 65

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 1:174,353...177,846

G

Rho guanine nucleotide exchange factor 16

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 1:2,121,058...2,148,391
Ensembl chr 1:3,258,664...3,275,809

G

ATPase family AAA domain containing 3C

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 1:209,176...227,683
Ensembl chr 1:1,407,391...1,425,563

G

aurora kinase A interacting protein 1

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 1:129,234...130,866
Ensembl chr 1:1,329,414...1,331,203

G

beta-1,3-galactosyltransferase 6

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:23664117 More...

G

beta-1,4-galactosyltransferase 7

ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type
ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2

PMID:1221956 PMID:1640425 PMID:3631078 PMID:9536098 PMID:10473568 More...

NCBI chr 5:172,905,749...172,915,970
Ensembl chr 5:179,965,928...179,976,158

G

chromosome 1 C1orf159 homolog

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

Ensembl chr 1:997,350...1,034,180

G

C1q and TNF related 12

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

Ensembl chr 1:1,200,756...1,205,301

G

calmodulin like 6

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 1:619,689...623,308
Ensembl chr 1:1,778,101...1,780,581

G

coiled-coil domain containing 27

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 1:2,423,607...2,443,033
Ensembl chr 1:3,544,974...3,564,999

G

cyclin L2

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 1:142,530...155,377
Ensembl chr 1:1,344,346...1,355,361

G

cyclin dependent kinase 11B

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 1:399,997...423,094
Ensembl chr 1:1,558,423...1,579,305

G

centrosomal protein 104

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 1:2,485,711...2,529,745
Ensembl chr 1:3,606,659...3,648,832

G

cilia and flagella associated protein 74

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 1:627,950...715,982
Ensembl chr 1:1,785,550...1,856,062

G

CDC like kinase 4

ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type

NCBI chr 5:173,760,420...173,784,851
Ensembl chr 5:181,017,365...181,037,919

G

collagen type XXIII alpha 1 chain

ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type

NCBI chr 5:173,399,146...173,750,380
Ensembl chr 5:180,657,408...181,005,593

G

ceramide-1-phosphate transfer protein

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 1:81,942...86,035
Ensembl chr 1:1,281,979...1,285,620

G

drebrin 1

ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type

NCBI chr 5:172,758,316...172,774,974
Ensembl chr 5:179,820,791...179,836,872

G

DEAD-box helicase 41

ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type

NCBI chr 5:172,812,755...172,818,217
Ensembl chr 5:179,873,626...179,884,402

G

docking protein 3

ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type

NCBI chr 5:172,803,094...172,812,613
Ensembl chr 5:179,864,910...179,874,190

G

dishevelled segment polarity protein 1

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 1:92,469...106,748
Ensembl chr 1:1,292,052...1,301,008

G

eukaryotic translation initiation factor 4E family member 1B

ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type

NCBI chr 5:171,941,013...171,944,691
Ensembl chr 5:179,010,207...179,014,809

G

coagulation factor XII

ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type

NCBI chr 5:172,703,724...172,711,618
Ensembl chr 5:179,766,243...179,773,485

G

FA core complex associated protein 20

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 1:900,616...922,845

G

family with sequence similarity 193 member B

ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type

NCBI chr 5:172,820,255...172,855,574
Ensembl chr 5:179,884,021...179,915,964

G

fibroblast growth factor receptor 4

ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type

NCBI chr 5:172,386,443...172,400,271
Ensembl chr 5:179,454,995...179,467,605

G

fibronectin type III domain containing 10

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 1:359,080...361,223

G

gamma-aminobutyric acid type A receptor subunit delta

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 1:731,714...743,165
Ensembl chr 1:1,883,955...1,895,102

G

G protein subunit beta 1

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 1:490,415...596,826
Ensembl chr 1:1,647,340...1,701,614

G

G protein-coupled receptor kinase 6

ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type

NCBI chr 5:172,704,978...172,744,907
Ensembl chr 5:179,790,662...179,807,410

G

glutamate metabotropic receptor 6

ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type

NCBI chr 5:174,142,754...174,156,294
Ensembl chr 5:181,434,031...181,447,341

G

hes family bHLH transcription factor 4

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

G

hes family bHLH transcription factor 5

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 1:1,261,260...1,263,128

G

hexokinase 3

ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type

NCBI chr 5:172,181,600...172,200,418
Ensembl chr 5:179,248,155...179,266,533

G

heterogeneous nuclear ribonucleoprotein A/B

ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type

NCBI chr 5:173,364,301...173,370,974

G

integrator complex subunit 11

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 1:66,280...81,854
Ensembl chr 1:1,266,581...1,281,430

G

ISG15 ubiquitin like modifier

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

Ensembl chr 1:927,418...928,491

G

kelch like family member 17

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

Ensembl chr 1:859,730...864,476

G

lectin, mannose binding 2

ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type

NCBI chr 5:172,619,011...172,653,303
Ensembl chr 5:179,696,018...179,716,076

G

ATPase family AAA domain-containing protein 3B

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 1:230,464...269,069

G

multiple epidermal growth factor-like domains protein 6

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 1:2,155,295...2,283,034

G

protein FAM153A

ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type

NCBI chr 5:173,014,034...173,045,815

G

leucine rich repeat containing 47

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 1:2,451,747...2,468,043

G

MIB E3 ubiquitin protein ligase 2

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 1:379,326...395,041
Ensembl chr 1:1,539,634...1,557,517

G

membrane metalloendopeptidase like 1

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 1:1,323,914...1,362,178
Ensembl chr 1:2,462,621...2,504,213

G

matrix metallopeptidase 23B

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 1:396,629...399,103
Ensembl chr 1:1,554,922...1,557,325

G

MORN repeat containing 1

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 1:1,040,735...1,109,847
Ensembl chr 1:2,185,815...2,257,031

G

mitochondrial ribosomal protein L20

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 1:157,984...163,411
Ensembl chr 1:1,358,009...1,363,014

G

MAX dimerization protein 3

ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type

NCBI chr 5:172,609,158...172,615,345
Ensembl chr 5:179,673,135...179,677,842

G

matrix remodeling associated 8

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 1:109,071...117,378

G

NEDD4 binding protein 3

ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type

NCBI chr 5:173,272,475...173,286,062
Ensembl chr 5:180,531,017...180,544,005

G

NAD kinase

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 1:462,860...485,203
Ensembl chr 1:1,619,270...1,642,269

G

NHP2 ribonucleoprotein

ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type

NCBI chr 5:173,308,560...173,313,046
Ensembl chr 5:180,566,008...180,570,502

G

NOC2 like nucleolar associated transcriptional repressor

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

Ensembl chr 1:843,551...857,535

G

nuclear receptor binding SET domain protein 1

ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type

NCBI chr 5:172,431,968...172,602,174
Ensembl chr 5:179,499,865...179,666,351

G

pantothenate kinase 4 (inactive)

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 1:1,238,821...1,259,139
Ensembl chr 1:2,378,116...2,395,738

G

PDZ and LIM domain 7

ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type

NCBI chr 5:172,784,656...172,798,875
Ensembl chr 5:179,846,476...179,860,619

G

peroxisomal biogenesis factor 10

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

Ensembl chr 1:2,270,698...2,278,401

G

profilin 3

ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type

NCBI chr 5:172,701,579...172,702,237
Ensembl chr 5:179,764,113...179,764,526

G

5-phosphohydroxy-L-lysine phospho-lyase

ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type

NCBI chr 5:173,368,383...173,394,377
Ensembl chr 5:180,625,530...180,651,618

G

phospholipase C eta 2

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 1:1,171,623...1,235,592
Ensembl chr 1:2,337,005...2,374,695

G

pleckstrin homology domain containing N1

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

Ensembl chr 1:865,290...873,575

G

PR/SET domain 16

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 1:1,730,122...2,100,636
Ensembl chr 1:2,981,667...3,234,251

G

PRELI domain containing 1

ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type

NCBI chr 5:172,605,767...172,608,901
Ensembl chr 5:179,669,885...179,672,965

G

protein kinase C zeta

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 1:763,942...901,531
Ensembl chr 1:1,920,219...2,045,855

G

PROP paired-like homeobox 1

ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type

NCBI chr 5:173,086,726...173,090,461

G

proline rich 7, synaptic

ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type

NCBI chr 5:172,748,020...172,757,989
Ensembl chr 5:179,818,184...179,821,479

G

peroxiredoxin like 2B

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 1:1,319,718...1,324,409

G

pseudouridine synthase like 1

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 1:63,263...66,360
Ensembl chr 1:1,263,656...1,266,661

G

RAB24, member RAS oncogene family

ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type

NCBI chr 5:172,603,410...172,605,696
Ensembl chr 5:179,667,583...179,669,864

G

retention in endoplasmic reticulum sorting receptor 1

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

Ensembl chr 1:2,257,091...2,271,311

G

regulator of G protein signaling 14

ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type

NCBI chr 5:172,659,323...172,674,084
Ensembl chr 5:179,721,876...179,739,453

G

required for meiotic nuclear division 5 homolog B

ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type

NCBI chr 5:173,290,007...173,307,663
Ensembl chr 5:180,548,381...180,565,094

G

ring finger protein 223

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

G

sterile alpha motif domain containing 11

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

G

sodium channel epithelial 1 subunit delta

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 1:35,437...46,538
Ensembl chr 1:1,238,512...1,247,649

G

stromal cell derived factor 4

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

G

SKI proto-oncogene

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 1:944,428...1,029,695
Ensembl chr 1:2,091,620...2,174,080

G

solute carrier family 34 member 1

ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type

NCBI chr 5:172,685,862...172,700,440
Ensembl chr 5:179,748,492...179,762,975

G

solute carrier family 35 member E2B

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 1:429,954...458,052
Ensembl chr 1:1,581,352...1,613,835

G

small integral membrane protein 1 (Vel blood group)

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 1:2,444,126...2,447,455
Ensembl chr 1:3,565,845...3,569,137

G

synuclein beta

ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type

NCBI chr 5:171,918,297...171,928,672
Ensembl chr 5:178,988,439...178,998,800

G

SSU72 homolog, RNA polymerase II CTD phosphatase

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 1:301,984...335,634
Ensembl chr 1:1,463,184...1,494,797

G

taste 1 receptor member 3

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 1:88,514...92,505
Ensembl chr 1:1,287,841...1,292,094

G

transmembrane p24 trafficking protein 9

ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type

NCBI chr 5:172,897,814...172,901,789
Ensembl chr 5:179,957,842...179,963,279

G

transmembrane protein 240

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 1:295,102...301,161
Ensembl chr 1:1,456,731...1,462,005

G

transmembrane protein 52

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 1:623,603...626,169
Ensembl chr 1:1,780,877...1,782,570

G

transmembrane protein 88B

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 1:181,849...185,020

G

TNF receptor superfamily member 14

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 1:1,288,493...1,296,532
Ensembl chr 1:2,427,631...2,435,615

G

TNF receptor superfamily member 18

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

G

TNF receptor superfamily member 4

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

Ensembl chr 1:1,168,935...1,171,337

G

tumor protein p73

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 1:2,323,399...2,405,295
Ensembl chr 1:3,476,064...3,529,206

G

tumor protein p63 regulated 1 like

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 1:2,296,601...2,301,687

G

tetraspanin 17

ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type

NCBI chr 5:171,944,792...171,959,797
Ensembl chr 5:179,015,641...179,030,941

G

tetratricopeptide repeat domain 34

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 1:1,374,206...1,454,684

G

tubulin tyrosine ligase like 10

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

Ensembl chr 1:1,131,691...1,155,349

G

ubiquitin conjugating enzyme E2 J2

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 1:8,756...28,672
Ensembl chr 1:1,211,502...1,231,530

G

ubiquitin interaction motif containing 1

ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type

NCBI chr 5:172,205,958...172,321,758
Ensembl chr 5:179,271,577...179,374,229

G

unc-5 netrin receptor A

ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type

NCBI chr 5:172,110,396...172,181,839
Ensembl chr 5:179,181,251...179,248,377

G

von Willebrand factor A domain containing 1

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 1:192,970...198,099

G

WD repeat containing, antisense to TP73

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 1:2,302,331...2,320,946
Ensembl chr 1:3,425,648...3,444,318

G

ZFP2 zinc finger protein

ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type

NCBI chr 5:174,046,319...174,095,463
Ensembl chr 5:181,349,149...181,350,534

G

zinc finger protein 346

ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type

NCBI chr 5:172,321,875...172,386,462
Ensembl chr 5:179,390,239...179,449,071

G

zinc finger protein 354A

ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type

NCBI chr 5:173,869,993...173,931,852
Ensembl chr 5:181,126,400...181,141,632

G

zinc finger protein 354B

ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type

NCBI chr 5:174,022,352...174,046,169
Ensembl chr 5:181,278,382...181,303,119

G

zinc finger protein 454

ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type

NCBI chr 5:174,103,394...174,129,719
Ensembl chr 5:181,381,728...181,383,046

Ehlers-Danlos syndrome spondylodysplastic type 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

solute carrier family 39 member 13

ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 3 | ClinVar Annotator: match by term: Spondylocheirodysplasia, Ehlers-Danlos syndrome-like

PMID:9536098 PMID:17576681 PMID:18513683 PMID:18985159 PMID:24033266 More...

NCBI chr11:47,356,465...47,364,710
Ensembl chr11:47,910,551...47,918,014

Ehlers-Danlos Syndrome Type 4

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

collagen type III alpha 1 chain

ClinVar Annotator: match by term: Ehlers-Danlos Syndrome Type IV | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 4

PMID:1352273 PMID:1357232 PMID:1370809 PMID:1496983 PMID:1556139 More...

NCBI chr2B:76,285,115...76,322,703
Ensembl chr2B:194,204,613...194,242,956

G

collagen type V alpha 2 chain

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 4

PMID:20648054 PMID:22696272 PMID:23587214 PMID:24922459 PMID:28492532

NCBI chr2B:76,339,756...76,487,133
Ensembl chr2B:194,259,316...194,407,237

G

solute carrier family 40 member 1

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 4

PMID:20648054 PMID:23587214 PMID:28492532

NCBI chr2B:76,867,908...76,888,403
Ensembl chr2B:194,787,575...194,810,993

G

WD repeat domain 75

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 4

PMID:20648054 PMID:23587214 PMID:28492532

NCBI chr2B:76,748,487...76,782,649
Ensembl chr2B:194,668,211...194,702,343

essential thrombocythemia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

autophagy related 2B

ClinVar Annotator: match by term: Thrombocythemia 1

NCBI chr14:76,910,943...76,992,969
Ensembl chr14:96,237,825...96,314,881

G

bradykinin receptor B1

ClinVar Annotator: match by term: Thrombocythemia 1

NCBI chr14:76,885,923...76,894,456

G

bradykinin receptor B2

ClinVar Annotator: match by term: Thrombocythemia 1

NCBI chr14:76,832,833...76,873,860
Ensembl chr14:96,156,494...96,196,253

G

chromosome 15 C14orf132 homolog

ClinVar Annotator: match by term: Thrombocythemia 1

NCBI chr14:76,668,209...76,715,766
Ensembl chr14:95,992,446...96,040,079

G

calreticulin

severity

ClinVar Annotator: match by term: Thrombocythemia 1
DNA:mutations:multiple (human)

OMIM
ClinVar
RGD

PMID:24325356 PMID:24325359 PMID:24496303 PMID:25741868

NCBI chr19:12,501,013...12,506,909
Ensembl chr19:13,242,900...13,249,416

G

CD36 molecule (CD36 blood group)

protein:increased expression:platelet, cell surface

NCBI chr 7:72,566,478...72,643,517
Ensembl chr 7:86,265,114...86,305,865

G

CD40 ligand

protein:increased expression:serum (human)

NCBI chr X:125,776,138...125,788,820
Ensembl chr X:136,042,849...136,058,202

G

cut like homeobox 2

ClinVar Annotator: match by term: Thrombocythemia 1

PMID:20404132 PMID:25741868

NCBI chr12:108,600,286...108,975,588
Ensembl chr12:112,175,555...112,311,221

G

elastase, neutrophil expressed

protein:increased expression:plasma:

NCBI chr19:276,499...280,598

G

fibroblast growth factor 2

CTD Direct Evidence: marker/mechanism

NCBI chr 4:115,005,136...115,076,369
Ensembl chr 4:126,149,813...126,214,942

G

GSK3B interacting protein

ClinVar Annotator: match by term: Thrombocythemia 1

NCBI chr14:76,993,055...77,017,142
Ensembl chr14:96,329,936...96,339,378

G

Janus kinase 2

severity

CTD Direct Evidence: marker/mechanism
OMIM:187950 | OMIM:300331 | OMIM:601977 | OMIM:614521
DNA:mutation: :p.V617F (human)

CTD
MouseDO
RGD

PMID:15781101 PMID:15858187 PMID:16484586 PMID:16896569 PMID:19154659 More...

NCBI chr 9:4,820,303...4,971,867
Ensembl chr 9:5,006,271...5,156,626

G

interferon alpha-2

CTD Direct Evidence: therapeutic

NCBI chr 9:21,245,017...21,246,210
Ensembl chr 9:21,863,062...21,863,736

G

MPL proto-oncogene, thrombopoietin receptor

ClinVar Annotator: match by term: Essential thrombocythemia | ClinVar Annotator: match by term: Thrombocythemia 1

PMID:8073287 PMID:10971406 PMID:11071383 PMID:11133753 PMID:14764528 More...

NCBI chr 1:42,639,191...42,654,738
Ensembl chr 1:44,018,395...44,034,492

G

MYB proto-oncogene, transcription factor

OMIM:187950 | OMIM:300331 | OMIM:601977 | OMIM:614521

NCBI chr 6:132,952,728...132,990,560
Ensembl chr 6:137,048,812...137,086,194

G

platelet derived growth factor subunit A

CTD Direct Evidence: marker/mechanism

NCBI chr 7:648,722...672,023

G

platelet derived growth factor subunit B

CTD Direct Evidence: marker/mechanism

NCBI chr22:20,127,223...20,148,407
Ensembl chr22:37,944,018...37,964,883

G

SH2B adaptor protein 3

ClinVar Annotator: match by term: Idiopathic thrombocythemia | ClinVar Annotator: match by term: THROMBOCYTOSIS 1 | ClinVar Annotator: match by term: Thrombocythemia 1

PMID:15705783 PMID:20404132 PMID:23812944 PMID:25741868 PMID:27651169 More...

NCBI chr12:108,977,344...109,024,029

G

TCL1 family AKT coactivator A

ClinVar Annotator: match by term: Thrombocythemia 1

NCBI chr14:76,339,614...76,343,546
Ensembl chr14:95,664,120...95,667,375

G

transforming growth factor beta 1

CTD Direct Evidence: marker/mechanism

NCBI chr19:38,324,009...38,347,003
Ensembl chr19:46,831,659...46,852,973

G

thrombopoietin

ClinVar Annotator: match by term: Thrombocythemia 1

PMID:7772529 PMID:9425899 PMID:9694695 PMID:10583217 PMID:16199547 More...

NCBI chr 3:181,409,038...181,416,986
Ensembl chr 3:189,891,025...189,897,429

G

TCL1 upstream neural differentiation-associated RNA

ClinVar Annotator: match by term: Thrombocythemia 1

G

vascular cell adhesion molecule 1

protein:increased expression:serum:

NCBI chr 1:103,377,815...103,395,118
Ensembl chr 1:102,091,336...102,107,732

G

von Willebrand factor

NCBI chr12:6,073,836...6,249,806
Ensembl chr12:5,990,612...6,165,153

Evans Syndrome, Immunodeficiency, and Premature Immunosenescence associated with Tripeptidyl-Peptidase II Deficiency

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

basic, immunoglobulin-like variable motif containing

ClinVar Annotator: match by term: Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency

PMID:25414442 PMID:28492532

NCBI chr13:83,959,365...84,002,223
Ensembl chr13:103,096,344...103,174,182

G

coiled-coil domain containing 168

ClinVar Annotator: match by term: Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency

PMID:25414442 PMID:28492532

NCBI chr13:83,891,331...83,921,047
Ensembl chr13:103,027,230...103,056,282

G

ERCC excision repair 5, endonuclease

ClinVar Annotator: match by term: Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency

PMID:25414442 PMID:28492532

NCBI chr13:84,005,950...84,036,710
Ensembl chr13:103,096,344...103,174,182

G

fibroblast growth factor 14

ClinVar Annotator: match by term: Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency

PMID:25414442 PMID:28492532

NCBI chr13:82,869,491...83,563,099
Ensembl chr13:102,016,568...102,696,330

G

methyltransferase 21C, AARS1 lysine

ClinVar Annotator: match by term: Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency

PMID:25414442 PMID:28492532

NCBI chr13:83,845,572...83,855,215
Ensembl chr13:102,981,536...102,990,336

G

protein O-glucosyltransferase 2

ClinVar Annotator: match by term: Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency

PMID:25414442 PMID:28492532

NCBI chr13:83,944,645...83,959,313
Ensembl chr13:103,081,650...103,096,378

G

solute carrier family 10 member 2

ClinVar Annotator: match by term: Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency

PMID:25414442 PMID:28492532

NCBI chr13:84,200,209...84,224,164
Ensembl chr13:103,336,073...103,359,359

G

testis expressed 30

ClinVar Annotator: match by term: Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency

PMID:25414442 PMID:28492532

NCBI chr13:83,927,705...83,936,447
Ensembl chr13:103,063,419...103,071,173

G

tripeptidyl peptidase 2

ClinVar Annotator: match by term: Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency

PMID:9536098 PMID:16199547 PMID:17576681 PMID:25414442 PMID:25640679 More...

NCBI chr13:83,756,757...83,838,997
Ensembl chr13:102,892,037...102,974,974

Factor V and Factor VIII, Combined Deficiency of, 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

multiple coagulation factor deficiency 2, ER cargo receptor complex subunit

ClinVar Annotator: match by term: Factor v and factor viii, combined deficiency of, 2

PMID:12717434 PMID:13229969 PMID:18391077 PMID:25741868 PMID:25741909 More...

NCBI chr2A:47,012,550...47,031,725
Ensembl chr2A:47,950,679...47,987,407

factor V deficiency

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

coagulation factor V

susceptibility

ClinVar Annotator: match by term: Factor V deficiency | ClinVar Annotator: match by term: LABILE FACTOR DEFICIENCY | ClinVar Annotator: match by term: PARAHEMOPHILIA

PMID:7586244 PMID:7803250 PMID:7877648 PMID:7910348 PMID:7911872 More...

NCBI chr 1:144,996,757...145,070,046
Ensembl chr 1:148,718,897...148,790,915

G

lectin, mannose binding 1

ClinVar Annotator: match by term: Factor V deficiency

NCBI chr18:52,722,735...52,754,013
Ensembl chr18:56,049,292...56,080,533

G

tissue factor pathway inhibitor

protein:decreased expression:plasma:

NCBI chr2B:74,744,154...74,834,338
Ensembl chr2B:192,541,881...192,581,384

factor VII deficiency

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

coagulation factor X

ClinVar Annotator: match by term: Factor VII deficiency

PMID:10984565 PMID:12181036 PMID:25741868

NCBI chr13:94,263,202...94,289,612
Ensembl chr13:113,332,124...113,358,660

G

coagulation factor VII

susceptibility

ClinVar Annotator: match by term: Congenital factor VII deficiency | ClinVar Annotator: match by term: Factor VII deficiency

PMID:1634227 PMID:2070047 PMID:6812354 PMID:7919338 PMID:7974346 More...

NCBI chr13:94,246,694...94,261,133
Ensembl chr13:113,315,868...113,329,995

factor VIII deficiency

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

complement C3

protein:increased expression:blood

NCBI chr19:5,708,211...5,753,178
Ensembl chr19:6,629,287...6,674,699

G

complement C5

protein:increased expression:blood

NCBI chr 9:92,069,574...92,202,513
Ensembl chr 9:120,426,354...120,523,856

G

CD40 ligand

treatment

NCBI chr X:125,776,138...125,788,820
Ensembl chr X:136,042,849...136,058,202

G

complement factor B

protein:increased expression:blood

NCBI chr 6:31,606,716...31,612,782

G

complement factor properdin

protein:increased expression:blood

NCBI chr X:40,060,106...40,066,720
Ensembl chr X:47,956,191...47,961,965

G

coagulation factor II, thrombin

treatment

NCBI chr11:46,669,925...46,690,391
Ensembl chr11:47,227,891...47,249,157

G

coagulation factor VII

ClinVar Annotator: match by term: Hemophilia

NCBI chr13:94,246,694...94,261,133
Ensembl chr13:113,315,868...113,329,995

G

coagulation factor VIII

treatment

ClinVar Annotator: match by term: F8-related condition | ClinVar Annotator: match by term: Factor 8 deficiency, congenital | ClinVar Annotator: match by term: Factor VIII deficiency, congenital | ClinVar Annotator: match by term: Hemophilia A | ClinVar Annotator: match by term: Hemophilia A, congenital | ClinVar Annotator: match by term: Hemophilia, classic

OMIM
ClinVar
RGD

PMID:1301194 PMID:1301932 PMID:1301960 PMID:1349567 PMID:1357455 More...

RGD:10450757 RGD:150520060

NCBI chr X:144,316,192...144,505,773
Ensembl chr X:154,156,873...154,341,317

G

coagulation factor VIII associated 1

ClinVar Annotator: match by term: Factor VIII deficiency, congenital

PMID:2105106 PMID:22759210

NCBI chr X:144,366,123...144,367,842

G

coagulation factor IX

ClinVar Annotator: match by term: Factor 8 deficiency, congenital | ClinVar Annotator: match by term: Factor VIII deficiency, congenital

PMID:1346975 PMID:1615486 PMID:1680287 PMID:1864609 PMID:1873221 More...

NCBI chr X:128,684,709...128,719,020
Ensembl chr X:138,934,167...138,967,087

G

FUN14 domain containing 2

ClinVar Annotator: match by term: Factor VIII deficiency, congenital | ClinVar Annotator: match by term: Hemophilia A

PMID:2105106 PMID:2563431

NCBI chr X:144,505,703...144,534,871
Ensembl chr X:154,345,251...154,374,743

G

heme oxygenase 1

treatment

DNA:repeat:promoter

NCBI chr22:16,388,368...16,401,289
Ensembl chr22:34,230,825...34,244,063

G

interferon gamma

treatment

DNA:SNP: :+874 A>T (human)

NCBI chr12:65,663,764...65,668,732
Ensembl chr12:68,448,861...68,453,829

G

interleukin 10

treatment

DNA:SNPs, haplotypes:promoter:rs1800896 (-1082G/A), rs1800871 (-819C/T), rs1800872 (-592C/A) (human)

NCBI chr 1:182,369,234...182,374,207
Ensembl chr 1:186,648,289...186,653,371

G

low affinity immunoglobulin gamma Fc region receptor II-a

susceptibility

DNA:SNP:cds:p.R131H (human)

NCBI chr 1:136,892,311...136,906,450

G

histone H2A-Bbd type 2/3

ClinVar Annotator: match by term: Factor VIII deficiency, congenital

PMID:2105106 PMID:22759210

NCBI chr X:144,364,612...144,365,333

G

MAGUK p55 scaffold protein 1

ClinVar Annotator: match by term: Factor VIII deficiency, congenital

NCBI chr X:144,258,416...144,285,658
Ensembl chr X:154,099,463...154,126,575

G

methylenetetrahydrofolate reductase

no_association
severity

DNA:SNP: :1298A>C (human)
DNA:SNP: :677C>T (human)

NCBI chr 1:10,548,196...10,568,174
Ensembl chr 1:11,766,334...11,785,419

G

plasminogen activator, tissue type

treatment

NCBI chr 8:41,419,415...41,451,951
Ensembl chr 8:38,864,918...38,897,779

G

small integral membrane protein 9

ClinVar Annotator: match by term: Factor VIII deficiency, congenital

NCBI chr X:144,303,611...144,311,226
Ensembl chr X:154,144,752...154,151,903

G

tissue factor pathway inhibitor

treatment

PMID:22355108 PMID:24263002 PMID:24687919

RGD:11060141 RGD:11060147 RGD:11060256

NCBI chr2B:74,744,154...74,834,338
Ensembl chr2B:192,541,881...192,581,384

G

transforming growth factor beta 1

treatment

DNA:polymorphism: :869T>C(rs1982037)(human)

NCBI chr19:38,324,009...38,347,003
Ensembl chr19:46,831,659...46,852,973

G

von Willebrand factor

treatment

ClinVar Annotator: match by term: Factor VIII deficiency, congenital

PMID:25741868 PMID:25955153

NCBI chr12:6,073,836...6,249,806
Ensembl chr12:5,990,612...6,165,153

Factor VIII Deficiency, Acquired

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

coagulation factor VIII

CTD Direct Evidence: therapeutic

NCBI chr X:144,316,192...144,505,773
Ensembl chr X:154,156,873...154,341,317

factor X deficiency

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ADP-ribosylhydrolase like 1

ClinVar Annotator: match by term: Factor X deficiency

PMID:25741868 PMID:34355501

NCBI chr13:94,563,333...94,598,128
Ensembl chr13:113,608,795...113,656,541

G

ankyrin repeat domain 10

ClinVar Annotator: match by term: Factor X deficiency

PMID:25741868 PMID:34355501

NCBI chr13:92,017,092...92,053,485
Ensembl chr13:111,130,933...111,177,018

G

Rho guanine nucleotide exchange factor 7

ClinVar Annotator: match by term: Factor X deficiency

PMID:25741868 PMID:34355501

NCBI chr13:92,246,107...92,436,173
Ensembl chr13:111,427,905...111,545,413

G

ATPase phospholipid transporting 11A

ClinVar Annotator: match by term: Factor X deficiency

PMID:25741868 PMID:34355501

NCBI chr13:93,822,102...94,016,837
Ensembl chr13:112,997,252...113,091,167

G

ATPase H+/K+ transporting subunit beta

ClinVar Annotator: match by term: Factor X deficiency

PMID:25741868 PMID:34355501

NCBI chr13:94,796,689...94,807,210
Ensembl chr13:113,848,126...113,859,054

G

cysteinyl-tRNA synthetase 2, mitochondrial

ClinVar Annotator: match by term: Factor X deficiency

PMID:25741868 PMID:34355501

NCBI chr13:91,776,774...91,843,262
Ensembl chr13:110,892,948...110,957,000

G

cell division cycle 16

ClinVar Annotator: match by term: Factor X deficiency

PMID:25741868 PMID:34355501

NCBI chr13:95,300,763...95,340,762
Ensembl chr13:114,369,774...114,407,267

G

chromosome alignment maintaining phosphoprotein 1

ClinVar Annotator: match by term: Factor X deficiency

PMID:25741868 PMID:34355501

NCBI chr13:95,382,649...95,411,763
Ensembl chr13:114,457,481...114,459,919

G

collagen type IV alpha 1 chain

ClinVar Annotator: match by term: Factor X deficiency

PMID:25741868 PMID:34355501

NCBI chr13:91,282,617...91,440,187
Ensembl chr13:110,407,009...110,562,529

G

collagen type IV alpha 2 chain

ClinVar Annotator: match by term: Factor X deficiency

PMID:25741868 PMID:34355501

NCBI chr13:91,440,314...91,650,138
Ensembl chr13:110,563,119...110,767,530

G

cullin 4A

ClinVar Annotator: match by term: Factor X deficiency

PMID:25741868 PMID:34355501

NCBI chr13:94,350,484...94,409,183
Ensembl chr13:113,428,271...113,472,701

G

defective in cullin neddylation 1 domain containing 2

ClinVar Annotator: match by term: Factor X deficiency

PMID:25741868 PMID:34355501

NCBI chr13:94,601,936...94,635,866
Ensembl chr13:113,660,823...113,693,689

G

coagulation factor X

ClinVar Annotator: match by term: Congenital factor X deficiency | ClinVar Annotator: match by term: F10 DEFICIENCY | ClinVar Annotator: match by term: Factor X deficiency | ClinVar Annotator: match by term: STUART-PROWER FACTOR DEFICIENCY

PMID:1939653 PMID:1973167 PMID:1985698 PMID:2790181 PMID:3408671 More...

NCBI chr13:94,263,202...94,289,612
Ensembl chr13:113,332,124...113,358,660

G

coagulation factor XI

ClinVar Annotator: match by term: Congenital factor X deficiency

PMID:25741868 PMID:31064749

NCBI chr 4:178,436,865...178,459,568
Ensembl chr 4:190,643,733...190,666,512

G

coagulation factor VII

ClinVar Annotator: match by term: Congenital factor X deficiency | ClinVar Annotator: match by term: Factor X deficiency

PMID:10984565 PMID:12181036 PMID:25741868 PMID:34355501

NCBI chr13:94,246,694...94,261,133
Ensembl chr13:113,315,868...113,329,995

G

growth arrest specific 6

ClinVar Annotator: match by term: Factor X deficiency

PMID:25741868 PMID:34355501

Ensembl chr13:113,968,843...114,009,562

G

G protein-coupled receptor kinase 1

ClinVar Annotator: match by term: Factor X deficiency

PMID:25741868 PMID:34355501

NCBI chr13:94,816,045...94,838,509
Ensembl chr13:113,867,002...113,885,610

G

growth hormone regulated TBC protein 1

ClinVar Annotator: match by term: Factor X deficiency

PMID:25741868 PMID:34355501

NCBI chr13:94,464,835...94,504,833
Ensembl chr13:113,530,950...113,561,023

G

inhibitor of growth family member 1

ClinVar Annotator: match by term: Factor X deficiency

PMID:25741868 PMID:34355501

NCBI chr13:91,849,153...91,856,943
Ensembl chr13:110,963,405...110,970,691

G

insulin receptor substrate 2

ClinVar Annotator: match by term: Factor X deficiency

PMID:25741868 PMID:34355501

NCBI chr13:90,886,095...90,917,724

G

lysosomal associated membrane protein 1

ClinVar Annotator: match by term: Factor X deficiency

PMID:25741868 PMID:34355501

NCBI chr13:94,442,507...94,464,061
Ensembl chr13:113,507,401...113,530,457

G

chromosome 13 C13orf46 homolog

ClinVar Annotator: match by term: Factor X deficiency

PMID:25741868 PMID:34355501

NCBI chr13:95,013,254...95,032,741

G

uncharacterized LOC100993586

ClinVar Annotator: match by term: Factor X deficiency

PMID:25741868 PMID:34355501

NCBI chr13:94,972,349...94,977,718

G

COL4A2 antisense RNA 2

ClinVar Annotator: match by term: Factor X deficiency

PMID:25741868 PMID:34355501

NCBI chr13:91,593,477...91,600,562

G

uncharacterized protein CFAP97D2

ClinVar Annotator: match by term: Factor X deficiency

PMID:25741868 PMID:34355501

NCBI chr13:95,252,517...95,289,180
Ensembl chr13:114,321,096...114,357,512

G

MCF.2 cell line derived transforming sequence like

ClinVar Annotator: match by term: Factor X deficiency

PMID:25741868 PMID:34355501

NCBI chr13:94,024,030...94,239,491
Ensembl chr13:113,111,066...113,309,224

G

myosin XVI

ClinVar Annotator: match by term: Factor X deficiency

PMID:25741868 PMID:34355501

NCBI chr13:89,754,451...90,338,658
Ensembl chr13:108,922,993...109,473,752

G

NAD(P)HX dehydratase

ClinVar Annotator: match by term: Factor X deficiency

PMID:25741868 PMID:34355501

NCBI chr13:91,750,962...91,775,364
Ensembl chr13:110,867,144...110,891,404

G

PCI domain containing 2

ClinVar Annotator: match by term: Factor X deficiency

PMID:25741868 PMID:34355501

NCBI chr13:94,319,699...94,350,763
Ensembl chr13:113,388,251...113,419,251

G

protein Z, vitamin K dependent plasma glycoprotein

ClinVar Annotator: match by term: Factor X deficiency

PMID:25741868 PMID:34355501

NCBI chr13:94,294,846...94,314,458
Ensembl chr13:113,364,280...113,383,010

G

RAB20, member RAS oncogene family

ClinVar Annotator: match by term: Factor X deficiency

PMID:25741868 PMID:34355501

NCBI chr13:91,660,142...91,698,215
Ensembl chr13:110,778,119...110,815,408

G

RAS p21 protein activator 3

ClinVar Annotator: match by term: Factor X deficiency

PMID:25741868 PMID:34355501

NCBI chr13:95,036,382...95,195,480
Ensembl chr13:114,123,816...114,271,066

G

SRY-box transcription factor 1

ClinVar Annotator: match by term: Factor X deficiency

PMID:25741868 PMID:34355501

NCBI chr13:93,023,958...93,269,467

G

sperm acrosome associated 7

ClinVar Annotator: match by term: Factor X deficiency

PMID:25741868 PMID:34355501

NCBI chr13:93,505,639...93,564,287

G

testis expressed 29

ClinVar Annotator: match by term: Factor X deficiency

PMID:25741868 PMID:34355501

NCBI chr13:92,446,990...92,473,521
Ensembl chr13:111,559,001...111,580,699

G

transcription factor Dp-1

ClinVar Annotator: match by term: Factor X deficiency

PMID:25741868 PMID:34355501

NCBI chr13:94,730,343...94,789,328
Ensembl chr13:113,789,280...113,840,825

G

transmembrane and coiled-coil domains 3

ClinVar Annotator: match by term: Factor X deficiency

PMID:25741868 PMID:34355501

NCBI chr13:94,635,777...94,698,015
Ensembl chr13:113,693,949...113,752,667

G

transmembrane protein 255B

ClinVar Annotator: match by term: Factor X deficiency

PMID:25741868 PMID:34355501

NCBI chr13:94,860,657...94,907,680

G

tubulin gamma complex component 3

ClinVar Annotator: match by term: Factor X deficiency

PMID:25741868 PMID:34355501

NCBI chr13:93,614,417...93,716,589
Ensembl chr13:112,702,519...112,801,429

G

UPF3A regulator of nonsense mediated mRNA decay

ClinVar Annotator: match by term: Factor X deficiency

PMID:25741868 PMID:34355501

NCBI chr13:95,349,449...95,373,984
Ensembl chr13:114,415,784...114,438,692

factor XI deficiency

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cytochrome P450 family 4 subfamily V member 2

ClinVar Annotator: match by term: Hereditary factor XI deficiency disease

PMID:25741868 PMID:32581362 PMID:34355501

NCBI chr 4:178,361,611...178,384,381
Ensembl chr 4:190,568,743...190,588,025

G

coagulation factor XI

ClinVar Annotator: match by term: Hereditary factor XI deficiency disease | ClinVar Annotator: match by term: Plasma factor XI deficiency

PMID:1547342 PMID:2052060 PMID:2813350 PMID:7669672 PMID:7888672 More...

NCBI chr 4:178,436,865...178,459,568
Ensembl chr 4:190,643,733...190,666,512

G

FAT atypical cadherin 1

ClinVar Annotator: match by term: Hereditary factor XI deficiency disease

PMID:25741868 PMID:34355501

NCBI chr 4:178,752,261...178,895,038
Ensembl chr 4:190,952,737...191,093,357

G

FSHD region gene 1

ClinVar Annotator: match by term: Hereditary factor XI deficiency disease

PMID:25741868 PMID:34355501

NCBI chr 4:182,084,087...182,106,472
Ensembl chr 4:195,265,473...195,314,040

G

FSHD region gene 2

ClinVar Annotator: match by term: Hereditary factor XI deficiency disease

PMID:25741868 PMID:34355501

NCBI chr 4:182,168,388...182,169,720

G

kallikrein B1

ClinVar Annotator: match by term: Hereditary factor XI deficiency disease

PMID:25741868 PMID:32581362 PMID:34355501

NCBI chr 4:178,398,359...178,429,448
Ensembl chr 4:190,604,901...190,636,300

G

melatonin receptor 1A

ClinVar Annotator: match by term: Hereditary factor XI deficiency disease

PMID:25741868 PMID:34355501

NCBI chr 4:178,693,869...178,720,351
Ensembl chr 4:190,897,192...190,921,677

G

tripartite motif family like 1

ClinVar Annotator: match by term: Hereditary factor XI deficiency disease

PMID:25741868 PMID:34355501

NCBI chr 4:180,294,211...180,302,527
Ensembl chr 4:192,483,189...192,491,414

G

tripartite motif family like 2

ClinVar Annotator: match by term: Hereditary factor XI deficiency disease

PMID:25741868 PMID:34355501

NCBI chr 4:180,245,925...180,264,563
Ensembl chr 4:192,430,524...192,453,689

G

ZFP42 zinc finger protein

ClinVar Annotator: match by term: Hereditary factor XI deficiency disease

PMID:25741868 PMID:34355501

NCBI chr 4:180,152,673...180,162,899
Ensembl chr 4:192,349,144...192,350,076

factor XII deficiency

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

coagulation factor XII

ClinVar Annotator: match by term: Factor 12 deficiency | ClinVar Annotator: match by term: Factor XII deficiency disease

PMID:8528215 PMID:9354665 PMID:9490684 PMID:9536098 PMID:10361128 More...

NCBI chr 5:172,703,724...172,711,618
Ensembl chr 5:179,766,243...179,773,485

G

solute carrier family 34 member 1

ClinVar Annotator: match by term: Factor 12 deficiency | ClinVar Annotator: match by term: Factor XII deficiency disease

PMID:10984376 PMID:16638441 PMID:17186468 PMID:17825897 PMID:19178938 More...

NCBI chr 5:172,685,862...172,700,440
Ensembl chr 5:179,748,492...179,762,975

factor XIII deficiency

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

coagulation factor XIII A chain

ClinVar Annotator: match by term: Hereditary factor XIII deficiency disease

NCBI chr 6:5,978,505...6,156,705
Ensembl chr 6:6,157,926...6,513,961

G

coagulation factor XIII B chain

ClinVar Annotator: match by term: Hereditary factor XIII deficiency disease

PMID:22353194 PMID:25044882 PMID:25741868 PMID:28399723 PMID:28748566

NCBI chr 1:172,623,336...172,651,945
Ensembl chr 1:176,937,158...176,965,773

G

lectin, mannose binding 1

F5F8D, OMIM:227300

NCBI chr18:52,722,735...52,754,013
Ensembl chr18:56,049,292...56,080,533

Factor XIII, A Subunit, Deficiency Of

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

coagulation factor XIII A chain

ClinVar Annotator: match by term: Factor XIII subunit A deficiency | ClinVar Annotator: match by term: Factor XIII, A subunit, deficiency of

PMID:1353995 PMID:7236530 PMID:7727776 PMID:7918041 PMID:8025280 More...

NCBI chr 6:5,978,505...6,156,705
Ensembl chr 6:6,157,926...6,513,961

Factor XIII, B Subunit, Deficiency Of

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

coagulation factor XIII B chain

ClinVar Annotator: match by term: Factor XIII, b subunit, deficiency of

PMID:2334637 PMID:8324218 PMID:8639893 PMID:11313256 PMID:12456499 More...

NCBI chr 1:172,623,336...172,651,945
Ensembl chr 1:176,937,158...176,965,773

Familial Cerebral Cavernous Malformation

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

angiotensin I converting enzyme

DNA:deletion:intron:IVS16+1464-1751del (human)

NCBI chr17:57,556,294...57,577,294
Ensembl chr17:62,702,341...62,733,853

G

cullin associated and neddylation dissociated 2 (putative)

NCBI chr 3:12,722,259...12,757,983
Ensembl chr 3:13,066,135...13,102,246

Familial Mixed Cryoglobulinemia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

Fc gamma receptor IIIa

treatment

DNA:polymorphism: :p.V176F (human)

NCBI chr 1:137,027,943...137,036,738

Familial Multiple Coagulation Factor Deficiency I

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

lectin, mannose binding 1

ClinVar Annotator: match by term: FMFD I

PMID:9045860 PMID:9546392 PMID:18391077 PMID:25741868 PMID:31064749

NCBI chr18:52,722,735...52,754,013
Ensembl chr18:56,049,292...56,080,533

G

multiple coagulation factor deficiency 2, ER cargo receptor complex subunit

ClinVar Annotator: match by term: FMFD I

PMID:12717434 PMID:13229969 PMID:25741868 PMID:31064749

NCBI chr2A:47,012,550...47,031,725
Ensembl chr2A:47,950,679...47,987,407

Familial Platelet Disorder with Associated Myeloid Malignancy

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

carbonyl reductase 1

ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1

PMID:25741868 PMID:34355501

NCBI chr21:22,440,726...22,443,950
Ensembl chr21:35,800,177...35,803,458

G

chloride intracellular channel 6

ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematologic cancer predisposition syndrome | ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1

PMID:18723428 PMID:24100448 PMID:28492532 PMID:32581362

NCBI chr21:21,041,763...21,089,958

G

potassium voltage-gated channel subfamily E regulatory subunit 1

ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematologic cancer predisposition syndrome

NCBI chr21:20,818,395...20,884,053
Ensembl chr21:34,190,043...34,190,441

G

potassium voltage-gated channel subfamily E regulatory subunit 2

ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematologic cancer predisposition syndrome | ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1

PMID:18478040 PMID:18487507 PMID:19357396 PMID:19679353 PMID:21626672 More...

G

mitochondrial ribosomal protein S6

ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematologic cancer predisposition syndrome

NCBI chr21:20,441,365...20,510,800
Ensembl chr21:33,862,033...33,879,670

G

regulator of calcineurin 1

ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematologic cancer predisposition syndrome

NCBI chr21:20,889,123...20,987,964
Ensembl chr21:34,258,355...34,267,025

G

RUNX family transcription factor 1

ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1

PMID:25741868 PMID:34355501

NCBI chr21:21,159,586...21,423,946
Ensembl chr21:34,530,956...34,788,544

G

SET domain containing 4

ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1

PMID:25741868 PMID:34355501

NCBI chr21:22,376,892...22,431,610
Ensembl chr21:35,737,061...35,791,156

G

solute carrier family 5 member 3

ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematologic cancer predisposition syndrome

NCBI chr21:20,441,434...20,474,101
Ensembl chr21:33,831,917...33,834,073

G

small integral membrane protein 11

ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematologic cancer predisposition syndrome

NCBI chr21:20,742,420...20,771,205

Gastrointestinal Ulceration, Recurrent, with Dysfunctional Platelets

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

phospholipase A2 group IVA

ClinVar Annotator: match by term: GASTROINTESTINAL ULCERATION, RECURRENT, WITH DYSFUNCTIONAL PLATELETS

PMID:18451993 PMID:23268370 PMID:25102815 PMID:25741868 PMID:28492532

NCBI chr 1:162,362,600...162,521,974
Ensembl chr 1:166,512,870...166,672,101

Giant Platelet Syndrome with Thrombocytopenia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

myosin heavy chain 9

ClinVar Annotator: match by term: Giant platelet syndrome with thrombocytopenia

PMID:1449176 PMID:5011389 PMID:8280620 PMID:9390828 PMID:10603121 More...

NCBI chr22:17,200,623...17,305,826
Ensembl chr22:35,039,101...35,121,618

Glanzmann Thrombasthenia 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

integrin subunit alpha 2b

ClinVar Annotator: match by term: Glanzmann thrombasthenia 1

PMID:1317725 PMID:1926040 PMID:2014236 PMID:7508443 PMID:7620188 More...

NCBI chr17:13,009,514...13,027,289
Ensembl chr17:13,176,843...13,193,269

G

integrin subunit beta 3

ClinVar Annotator: match by term: Glanzmann thrombasthenia 1

PMID:1371279 PMID:1602006 PMID:9050889 PMID:9215749 PMID:9351872 More...

NCBI chr17:10,134,450...10,194,596
Ensembl chr17:10,353,111...10,392,382

Glanzmann Thrombasthenia 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

integrin subunit beta 3

ClinVar Annotator: match by term: Glanzmann thrombasthenia 2

PMID:1371279 PMID:1438206 PMID:1602006 PMID:2014236 PMID:2392682 More...

NCBI chr17:10,134,450...10,194,596
Ensembl chr17:10,353,111...10,392,382

Glanzmann's thrombasthenia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

integrin subunit alpha 2

severity

NCBI chr 5:60,935,452...61,040,726
Ensembl chr 5:62,555,370...62,659,720

G

integrin subunit alpha 2b

ClinVar Annotator: match by term: BLEEDING DISORDER, PLATELET-TYPE, 2 | ClinVar Annotator: match by term: Glanzmann thrombasthenia | ClinVar Annotator: match by term: Glanzmann thrombasthenia type A | ClinVar Annotator: match by term: Thrombasthenia

PMID:1317725 PMID:1638023 PMID:1926040 PMID:2014236 PMID:7508443 More...

NCBI chr17:13,009,514...13,027,289
Ensembl chr17:13,176,843...13,193,269

G

integrin subunit beta 3

ClinVar Annotator: match by term: BLEEDING DISORDER, PLATELET-TYPE, 2 | ClinVar Annotator: match by term: Glanzmann thrombasthenia | ClinVar Annotator: match by term: Glanzmann thrombasthenia type A | ClinVar Annotator: match by term: Thrombasthenia

PMID:1371279 PMID:1430225 PMID:1438206 PMID:1602006 PMID:2014236 More...

NCBI chr17:10,134,450...10,194,596
Ensembl chr17:10,353,111...10,392,382

gray platelet syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

coiled-coil domain containing 12

ClinVar Annotator: match by term: Gray platelet syndrome

NCBI chr 3:46,822,128...46,882,217
Ensembl chr 3:47,923,673...47,978,660

G

growth factor independent 1B transcriptional repressor

DNA:nonsense mutation:c.859C>T, p.Gln287X(human)

NCBI chr 9:104,061,236...104,113,208
Ensembl chr 9:132,692,343...132,742,326

G

neurobeachin like 2

ClinVar Annotator: match by term: Gray platelet syndrome | ClinVar Annotator: match by term: NBEAL2-related condition

PMID:21765411 PMID:21765412 PMID:21765413 PMID:25741868 PMID:28492532 More...

NCBI chr 3:46,879,867...46,909,901
Ensembl chr 3:47,987,142...48,010,766

HEMOLYTIC UREMIC SYNDROME, ATYPICAL, 8, WITH RHIZOMELIC SHORT STATURE

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

C1GALT1 specific chaperone 1

ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, 8, with rhizomelic short stature

PMID:25741868 PMID:36599939 PMID:37216524

NCBI chr X:109,905,468...109,909,826
Ensembl chr X:120,092,052...120,093,008

hemolytic-uremic syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

albumin

CTD Direct Evidence: marker/mechanism

NCBI chr 4:50,773,244...50,790,474
Ensembl chr 4:56,605,322...56,622,418

G

C-C motif chemokine ligand 2

protein:increased expression:plasma (rat)

NCBI chr17:22,528,154...22,530,091
Ensembl chr17:22,820,890...22,823,384

G

CD36 molecule (CD36 blood group)

NCBI chr 7:72,566,478...72,643,517
Ensembl chr 7:86,265,114...86,305,865

G

CD46 molecule

susceptibility

DNA:mutations:multiple (human)
DNA:deletion, missense mutation:cds:p.D237_S238del, p.S206P (human)
DNA:frameshift mutation:cds:p.N233X3 (human)

PMID:14566051 PMID:14615110 PMID:16189652

RGD:11352767 RGD:11352770 RGD:11531138

NCBI chr 1:183,330,423...183,373,916
Ensembl chr 1:188,031,758...188,182,046

G

complement factor H

DNA:mutations, polymorphisms:promoter, exon:multiple

NCBI chr 1:172,155,882...172,251,632
Ensembl chr 1:176,455,247...176,525,521

G

diacylglycerol kinase epsilon

ClinVar Annotator: match by term: Hemolytic-uremic syndrome

NCBI chr17:50,912,079...50,946,655
Ensembl chr17:55,773,896...55,802,485

G

erythropoietin

CTD Direct Evidence: therapeutic

NCBI chr 7:92,747,671...92,750,886
Ensembl chr 7:106,148,062...106,150,974

G

coagulation factor II, thrombin

associated with diarrhea;protein:increased expression:plasma (human)

NCBI chr11:46,669,925...46,690,391
Ensembl chr11:47,227,891...47,249,157

G

Fos proto-oncogene, AP-1 transcription factor subunit

NCBI chr14:55,832,570...55,835,984
Ensembl chr14:74,676,316...74,679,766

G

interleukin 1 alpha

CTD Direct Evidence: marker/mechanism

NCBI chr2A:89,273,482...89,284,421
Ensembl chr2A:113,784,854...113,795,801

G

interleukin 1 beta

CTD Direct Evidence: marker/mechanism

NCBI chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424

G

interleukin 1 receptor like 1

severity

associated with Escherichia Coli Infections;

G

interleukin 1 receptor antagonist

protein:increased concentration:serum (human)

PMID:9802632 PMID:12373296

RGD:6909134 RGD:6909171

NCBI chr2A:88,991,646...89,008,013
Ensembl chr2A:114,061,182...114,078,839

G

interleukin 6

CTD Direct Evidence: marker/mechanism

NCBI chr 7:23,415,922...23,420,767

G

mannose binding lectin 2

treatment

NCBI chr10:49,401,364...49,409,328
Ensembl chr10:51,527,758...51,543,432

G

NAD(P)H quinone dehydrogenase 1

CTD Direct Evidence: marker/mechanism

NCBI chr16:50,090,696...50,106,495
Ensembl chr16:69,470,288...69,489,731

G

phospholipase A2 group VII

severity

associated with Escherichia coli Infections; DNA:transversion mutation: :994 G>T (human)

NCBI chr 6:46,264,262...46,318,487
Ensembl chr 6:47,558,861...47,590,212

G

plasminogen activator, tissue type

associated with Escherichia coli Infections;protein:increased expression:plasma (human)

NCBI chr 8:41,419,415...41,451,951
Ensembl chr 8:38,864,918...38,897,779

G

thrombomodulin

NCBI chr20:22,992,341...22,996,415
Ensembl chr20:23,345,917...23,347,812

G

tumor necrosis factor

CTD Direct Evidence: marker/mechanism

NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381

G

tRNA splicing endonuclease subunit 2

ClinVar Annotator: match by term: Hemolytic-uremic syndrome

NCBI chr 3:12,410,885...12,463,932
Ensembl chr 3:12,759,375...12,800,201

hemophilia B

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATPase phospholipid transporting 11C

ClinVar Annotator: match by term: Hereditary factor IX deficiency disease

PMID:2198809 PMID:3029178 PMID:4045960 PMID:8304338 PMID:24375831 More...

NCBI chr X:128,880,747...129,085,989
Ensembl chr X:139,132,783...139,334,869

G

chromosome X CXorf66 homolog

ClinVar Annotator: match by term: Hereditary factor IX deficiency disease

PMID:2198809 PMID:3029178 PMID:4045960 PMID:8304338 PMID:24375831 More...

NCBI chr X:129,106,870...129,116,750
Ensembl chr X:139,356,748...139,366,612

G

coagulation factor II, thrombin

treatment

NCBI chr11:46,669,925...46,690,391
Ensembl chr11:47,227,891...47,249,157

G

coagulation factor VIII

ClinVar Annotator: match by term: Factor IX deficiency | ClinVar Annotator: match by term: Hereditary factor IX deficiency disease

PMID:1301932 PMID:1301960 PMID:1349567 PMID:1357455 PMID:1671991 More...

NCBI chr X:144,316,192...144,505,773
Ensembl chr X:154,156,873...154,341,317

G

coagulation factor IX

treatment

ClinVar Annotator: match by term: Factor IX deficiency | ClinVar Annotator: match by term: Hemophilia B Brandenburg | ClinVar Annotator: match by term: Hemophilia B leyden | ClinVar Annotator: match by term: Hemophilia B, Factor IX Deficiency | ClinVar Annotator: match by term: Hemophilia b(m) | ClinVar Annotator: match by term: Hereditary factor IX deficiency disease

OMIM
ClinVar
RGD

PMID:734633 PMID:884315 PMID:1346077 PMID:1346975 PMID:1357229 More...

RGD:10450761 RGD:10450764

NCBI chr X:128,684,709...128,719,020
Ensembl chr X:138,934,167...138,967,087

G

MCF.2 cell line derived transforming sequence

ClinVar Annotator: match by term: Hereditary factor IX deficiency disease

PMID:2198809 PMID:3029178 PMID:4045960 PMID:8304338 PMID:24375831 More...

NCBI chr X:128,737,271...128,848,384
Ensembl chr X:138,984,632...139,096,066

G

SRY-box transcription factor 3

ClinVar Annotator: match by term: Hereditary factor IX deficiency disease

PMID:2198809 PMID:3029178 PMID:4045960 PMID:8304338 PMID:24375831 More...

NCBI chr X:129,654,296...129,656,446

Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Cataracts

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

junctional adhesion molecule 3

ClinVar Annotator: match by term: Hemorrhagic destruction of the brain, subependymal calcification, and cataracts

PMID:21109224 PMID:23255084 PMID:25741868 PMID:25741869 PMID:28492532 More...

NCBI chr11:128,916,024...129,006,497
Ensembl chr11:132,783,580...132,864,657

Henoch-Schoenlein purpura

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

angiotensin I converting enzyme

disease_progression

DNA:deletion:intron:IVS16+1464-1751del (human)

NCBI chr17:57,556,294...57,577,294
Ensembl chr17:62,702,341...62,733,853

G

angiotensinogen

severity

DNA:missense mutation:cds:p.M235T (human)
DNA:missense mutation:cds:p.T174M (human)

PMID:16521052 PMID:20702504

RGD:11039045 RGD:11039055

NCBI chr 1:206,252,141...206,263,830
Ensembl chr 1:211,279,015...211,291,044

G

complement C3

CTD Direct Evidence: marker/mechanism

NCBI chr19:5,708,211...5,753,178
Ensembl chr19:6,629,287...6,674,699

G

C-C motif chemokine ligand 2

susceptibility

DNA:snp:promoter:g.-2518C>T (human)
protein:increased expression:serum (human)

PMID:25839768 PMID:26234573

RGD:11522500 RGD:11528567

NCBI chr17:22,528,154...22,530,091
Ensembl chr17:22,820,890...22,823,384

G

CD86 molecule

treatment

protein:increased expression:venous blood, B cell (human)

NCBI chr 3:119,151,884...119,217,641
Ensembl chr 3:126,059,008...126,124,339

G

heme oxygenase 1

protein:increased expression:serum

NCBI chr22:16,388,368...16,401,289
Ensembl chr22:34,230,825...34,244,063

G

insulin like growth factor 1

protein:increased expression:serum

NCBI chr12:99,986,887...100,066,773
Ensembl chr12:103,385,911...103,462,177

G

interleukin 1 receptor antagonist

DNA:repeats:intron:IVS2+914_1000dup IL1RN*2 (human)

NCBI chr2A:88,991,646...89,008,013
Ensembl chr2A:114,061,182...114,078,839

G

interleukin 27

mRNA,protein:decreased expression:peripheral blood mononuclear cell, blood serum (human)"

G

interleukin 5

protein:increased expression:serum

NCBI chr 5:127,955,377...127,961,726
Ensembl chr 5:134,119,608...134,121,675

G

kininogen 1

protein:increased expression:serum

NCBI chr 3:183,751,598...183,778,655
Ensembl chr 3:192,219,462...192,245,149

G

MEFV innate immunity regulator, pyrin

susceptibility

DNA:mutations:exons:
DNA:mutations:cds:
DNA:mutation:exon:p. E148Q (human)

PMID:20602240 PMID:22451026 PMID:25232290

RGD:11531116 RGD:7349346 RGD:7349347

NCBI chr16:2,175,858...2,191,056
Ensembl chr16:3,353,666...3,368,970

G

plasminogen activator, tissue type

protein:increased expression:plasma (human)

NCBI chr 8:41,419,415...41,451,951
Ensembl chr 8:38,864,918...38,897,779

G

plasminogen activator, urokinase

CTD Direct Evidence: therapeutic

PMID:9002298 PMID:12671112

NCBI chr10:70,433,340...70,441,569
Ensembl chr10:73,105,895...73,113,136

G

paraoxonase 1

susceptibility

DNA:missense mutations:cds:p.L55M, p.Q192R (human)

NCBI chr 7:87,253,476...87,279,650
Ensembl chr 7:100,841,286...100,867,493

Heparin-induced Thrombocytopenia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

Fc gamma receptor IIIa

susceptibility

DNA:SNP:cds:p.V158F(human)

NCBI chr 1:137,027,943...137,036,738

G

interleukin 10

no_association

DNA:repeats, haplotype:promoter
DNA:SNPs:promoter:rs1800896 (-1082G/A), rs1800871 (-819C/T), rs1800872 (-592C/A) (human)

NCBI chr 1:182,369,234...182,374,207
Ensembl chr 1:186,648,289...186,653,371

G

low affinity immunoglobulin gamma Fc region receptor II-a

NCBI chr 1:136,892,311...136,906,450

hereditary hemorrhagic telangiectasia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

activin A receptor like type 1

ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia

PMID:16705692 PMID:21158752 PMID:25637381 PMID:25741868 PMID:26176610 More...

NCBI chr12:36,839,869...36,856,351
Ensembl chr12:37,615,888...37,631,691

G

adenylate kinase 1

ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia

PMID:15879500 PMID:20414677 PMID:28492532

NCBI chr 9:98,987,348...98,997,252
Ensembl chr 9:127,657,338...127,678,245

G

cyclin H

ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia

PMID:18446851 PMID:24038909 PMID:25741868 PMID:28295764 PMID:28492532 More...

NCBI chr 5:27,958,859...27,995,815
Ensembl chr 5:28,094,064...28,116,149

G

dolichyl-phosphate mannosyltransferase subunit 2, regulatory

ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia

PMID:15879500 PMID:20414677 PMID:28492532

NCBI chr 9:99,055,271...99,058,058
Ensembl chr 9:127,725,780...127,729,589

G

endoglin

no_association

ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia | ClinVar Annotator: match by term: Osler-Rendu-Weber disease
ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia | ClinVar Annotator: match by term: Osler hemorrhagic telangiectasia syndrome | ClinVar Annotator: match by term: Osler-Rendu-Weber disease

PMID:7894484 PMID:8162075 PMID:8595426 PMID:9157574 PMID:9245986 More...

NCBI chr 9:98,934,080...98,973,862
Ensembl chr 9:127,605,608...127,644,641

G

growth differentiation factor 2

CTD Direct Evidence: marker/mechanism

NCBI chr10:46,520,808...46,526,414

G

phosphatidylinositol-4-phosphate 5-kinase like 1

ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia

PMID:15879500 PMID:20414677 PMID:28492532

NCBI chr 9:99,041,687...99,051,031
Ensembl chr 9:127,712,944...127,722,332

G

RAS p21 protein activator 1

ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia

PMID:18446851 PMID:24038909 PMID:25741868 PMID:28295764 PMID:28492532 More...

NCBI chr 5:27,980,907...28,104,368
Ensembl chr 5:28,115,159...28,240,321

G

SMAD family member 4

ClinVar Annotator: match by term: Osler hemorrhagic telangiectasia syndrome

PMID:25741868 PMID:28492532

NCBI chr18:44,402,112...44,456,779
Ensembl chr18:47,764,568...47,797,359

G

ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 4

ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia

PMID:15879500 PMID:20414677 PMID:28492532

NCBI chr 9:99,027,846...99,037,025
Ensembl chr 9:127,699,013...127,708,515

G

ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 6

ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia

PMID:15879500 PMID:20414677 PMID:28492532

NCBI chr 9:99,005,336...99,025,296
Ensembl chr 9:127,677,841...127,697,880

G

tumor necrosis factor

protein:decreased expression:blood, lymphocyte

NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381

Hereditary Hemorrhagic Telangiectasia, Type 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

activin A receptor like type 1

ClinVar Annotator: match by term: Telangiectasia, hereditary hemorrhagic, type 1

PMID:9536098 PMID:15024723 PMID:15065824 PMID:15517393 PMID:15712271 More...

NCBI chr12:36,839,869...36,856,351
Ensembl chr12:37,615,888...37,631,691

G

endoglin

ClinVar Annotator: match by term: ENG-related condition | ClinVar Annotator: match by term: Haemorrhagic telangiectasia 1 | ClinVar Annotator: match by term: Telangiectasia, hereditary hemorrhagic, type 1

PMID:2601709 PMID:7894484 PMID:8162075 PMID:9245986 PMID:9366572 More...

NCBI chr 9:98,934,080...98,973,862
Ensembl chr 9:127,605,608...127,644,641

G

presenilin 1

ClinVar Annotator: match by term: Telangiectasia, hereditary hemorrhagic, type 1

PMID:25741868 PMID:29142009 PMID:30822634 PMID:32235595

NCBI chr14:53,718,299...53,802,684
Ensembl chr14:72,579,024...72,663,876

G

SMAD family member 4

ClinVar Annotator: match by term: Telangiectasia, hereditary hemorrhagic, type 1

NCBI chr18:44,402,112...44,456,779
Ensembl chr18:47,764,568...47,797,359

G

transforming growth factor beta 1

protein:decreased expression:plasma:

NCBI chr19:38,324,009...38,347,003
Ensembl chr19:46,831,659...46,852,973

Hereditary Hemorrhagic Telangiectasia, Type 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

activin A receptor like type 1

ClinVar Annotator: match by term: Lip telangiectasia | ClinVar Annotator: match by term: Telangiectasia, hereditary hemorrhagic, type 2

PMID:6470589 PMID:8640225 PMID:9245985 PMID:9536098 PMID:10187774 More...

NCBI chr12:36,839,869...36,856,351
Ensembl chr12:37,615,888...37,631,691

G

endoglin

ClinVar Annotator: match by term: Oral cavity telangiectasia

NCBI chr 9:98,934,080...98,973,862
Ensembl chr 9:127,605,608...127,644,641

Hereditary Hemorrhagic Telangiectasia, Type 5

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

growth differentiation factor 2

ClinVar Annotator: match by term: Telangiectasia, hereditary hemorrhagic, type 5

PMID:23972370 PMID:25741868 PMID:26801773 PMID:27081547 PMID:28492532 More...

NCBI chr10:46,520,808...46,526,414

Hermansky-Pudlak syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

adaptor related protein complex 3 subunit beta 1

ClinVar Annotator: match by term: Hermansky-Pudlak syndrome

PMID:16507770 PMID:23403622 PMID:24033266 PMID:25741868 PMID:28492532 More...

NCBI chr 5:37,015,518...37,305,769
Ensembl chr 5:37,503,162...37,840,205

G

adaptor related protein complex 3 subunit delta 1

ClinVar Annotator: match by term: Hermansky-Pudlak syndrome

NCBI chr19:1,110,419...1,161,826
Ensembl chr19:2,085,540...2,137,593

G

biogenesis of lysosomal organelles complex 1 subunit 3

ClinVar Annotator: match by term: Hermansky-Pudlak syndrome

PMID:25741868 PMID:31064749

NCBI chr19:42,100,227...42,128,636

G

biogenesis of lysosomal organelles complex 1 subunit 4

Ensembl chr 4:6,787,943...6,788,596

G

biogenesis of lysosomal organelles complex 1 subunit 5

ClinVar Annotator: match by term: Hermansky-Pudlak syndrome

NCBI chr 6:7,852,340...7,902,880
Ensembl chr 6:8,133,721...8,184,194

G

biogenesis of lysosomal organelles complex 1 subunit 6

ClinVar Annotator: match by term: Hermansky-Pudlak syndrome

PMID:10610180 PMID:21665000 PMID:22461475 PMID:25741868 PMID:26575419 More...

NCBI chr15:24,469,225...24,553,163
Ensembl chr15:42,862,112...42,882,316

G

C-C motif chemokine ligand 5

protein:increased secretion:lung, alveolar macrophage (human)

NCBI chr17:20,915,198...20,923,530
Ensembl chr17:21,210,798...21,219,172

G

ceruloplasmin

ClinVar Annotator: match by term: Hermansky-Pudlak syndrome

PMID:11590544 PMID:16199547 PMID:18414213 PMID:24033266 PMID:25741868 More...

NCBI chr 3:146,180,527...146,239,833
Ensembl chr 3:153,764,830...153,817,544

G

C-X-C motif chemokine receptor 4

disease_progression

NCBI chr2B:23,744,271...23,748,106
Ensembl chr2B:140,181,829...140,189,647

G

dystrobrevin binding protein 1

ClinVar Annotator: match by term: Hermansky-Pudlak syndrome

PMID:24033266 PMID:28492532

NCBI chr 6:15,377,263...15,523,317
Ensembl chr 6:15,741,698...15,887,256

G

HPS1 biogenesis of lysosomal organelles complex 3 subunit 1

ClinVar Annotator: match by term: Hermansky-Pudlak syndrome

PMID:8274781 PMID:8896559 PMID:9345105 PMID:9497254 PMID:9536098 More...

NCBI chr10:95,030,626...95,061,415
Ensembl chr10:98,526,113...98,552,922

G

HPS3 biogenesis of lysosomal organelles complex 2 subunit 1

ClinVar Annotator: match by term: Hermansky-Pudlak syndrome

PMID:11590544 PMID:16199547 PMID:17933573 PMID:18414213 PMID:24033266 More...

NCBI chr 3:146,147,140...146,190,793
Ensembl chr 3:153,725,008...153,769,060

G

HPS4 biogenesis of lysosomal organelles complex 3 subunit 2

ClinVar Annotator: match by term: Hermansky-Pudlak syndrome

PMID:12664304 PMID:24033266 PMID:25741868 PMID:26575419 PMID:28492532 More...

NCBI chr22:7,513,397...7,545,782
Ensembl chr22:25,236,360...25,268,699

G

HPS5 biogenesis of lysosomal organelles complex 2 subunit 2

ClinVar Annotator: match by term: Hermansky-Pudlak syndrome

PMID:12548288 PMID:15296495 PMID:16199547 PMID:21833017 PMID:23607980 More...

NCBI chr11:18,313,846...18,357,558
Ensembl chr11:17,999,116...18,042,724

G

HPS6 biogenesis of lysosomal organelles complex 2 subunit 3

ClinVar Annotator: match by term: Hermansky-Pudlak syndrome

PMID:12548288 PMID:17041891 PMID:19843503 PMID:24033266 PMID:25741868 More...

NCBI chr10:98,670,168...98,672,896
Ensembl chr10:102,139,439...102,141,766

G

KxDL motif containing 1

NCBI chr19:18,034,887...18,046,603

G

RAB38, member RAS oncogene family

NCBI chr11:83,121,858...83,183,698
Ensembl chr11:86,710,358...86,773,142

G

Rab geranylgeranyltransferase subunit alpha

NCBI chr14:5,041,694...5,047,775
Ensembl chr14:23,163,034...23,171,311

G

solute carrier family 7 member 11

NCBI chr 4:130,529,677...130,601,396
Ensembl chr 4:141,849,343...141,959,849

G

VPS33A core subunit of CORVET and HOPS complexes

NCBI chr12:119,831,693...119,868,132
Ensembl chr12:123,201,663...123,236,019

Hermansky-Pudlak syndrome 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

adaptor related protein complex 3 subunit beta 1

ClinVar Annotator: match by term: Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells

PMID:25741868 PMID:28492532

NCBI chr 5:37,015,518...37,305,769
Ensembl chr 5:37,503,162...37,840,205

G

adaptor related protein complex 3 subunit delta 1

OMIM:203300

NCBI chr19:1,110,419...1,161,826
Ensembl chr19:2,085,540...2,137,593

G

biogenesis of lysosomal organelles complex 1 subunit 6

ClinVar Annotator: match by term: Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells

PMID:25741868 PMID:28492532 PMID:33543539

NCBI chr15:24,469,225...24,553,163
Ensembl chr15:42,862,112...42,882,316

G

ceruloplasmin

ClinVar Annotator: match by term: Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells

PMID:25741868 PMID:28492532

NCBI chr 3:146,180,527...146,239,833
Ensembl chr 3:153,764,830...153,817,544

G

HPS1 biogenesis of lysosomal organelles complex 3 subunit 1

ClinVar Annotator: match by term: HPS1-related condition | ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 1

PMID:8274781 PMID:8896559 PMID:9345105 PMID:9497254 PMID:9536098 More...

NCBI chr10:95,030,626...95,061,415
Ensembl chr10:98,526,113...98,552,922

G

HPS3 biogenesis of lysosomal organelles complex 2 subunit 1

ClinVar Annotator: match by term: Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells

PMID:11590544 PMID:25741868 PMID:28492532 PMID:31898847

NCBI chr 3:146,147,140...146,190,793
Ensembl chr 3:153,725,008...153,769,060

G

RAB27A, member RAS oncogene family

OMIM:203300

NCBI chr15:34,174,491...34,263,045
Ensembl chr15:52,498,202...52,529,984

Hermansky-Pudlak Syndrome 10

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

adaptor related protein complex 3 subunit delta 1

ClinVar Annotator: match by term: AP3D1-related condition | ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 10

PMID:9536098 PMID:17576681 PMID:25741868 PMID:26744459 PMID:28492532 More...

NCBI chr19:1,110,419...1,161,826
Ensembl chr19:2,085,540...2,137,593

Hermansky-Pudlak Syndrome 11

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

biogenesis of lysosomal organelles complex 1 subunit 5

ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 11

PMID:25741868 PMID:32565547

NCBI chr 6:7,852,340...7,902,880
Ensembl chr 6:8,133,721...8,184,194

Hermansky-Pudlak syndrome 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

angiogenic factor with G-patch and FHA domains 1

ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2

PMID:16507770 PMID:23403622 PMID:28492532

NCBI chr 5:38,236,209...38,268,530
Ensembl chr 5:38,762,317...38,794,594

G

adaptor related protein complex 3 subunit beta 1

ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2

PMID:8042664 PMID:9536098 PMID:10024875 PMID:11809908 PMID:14566336 More...

NCBI chr 5:37,015,518...37,305,769
Ensembl chr 5:37,503,162...37,840,205

G

adaptor related protein complex 3 subunit delta 1

ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2

NCBI chr19:1,110,419...1,161,826
Ensembl chr19:2,085,540...2,137,593

G

arylsulfatase B

ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2

PMID:16507770 PMID:23403622 PMID:28492532

NCBI chr 5:36,325,581...36,534,371
Ensembl chr 5:36,804,874...37,023,739

G

corticotropin releasing hormone binding protein

ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2

PMID:16507770 PMID:23403622 PMID:28492532

NCBI chr 5:38,327,305...38,343,901
Ensembl chr 5:38,845,925...38,869,549

G

F2R like trypsin receptor 1

ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2

PMID:16507770 PMID:23403622 PMID:28492532

G

HPS3 biogenesis of lysosomal organelles complex 2 subunit 1

ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2

PMID:11590544 PMID:25741868 PMID:28492532 PMID:31898847 PMID:32581362

NCBI chr 3:146,147,140...146,190,793
Ensembl chr 3:153,725,008...153,769,060

G

LHFPL tetraspan subfamily member 2

ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2

PMID:16507770 PMID:23403622 PMID:28492532

NCBI chr 5:36,663,171...36,825,272
Ensembl chr 5:37,289,046...37,314,043

G

orthopedia homeobox

ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2

PMID:16507770 PMID:23403622 PMID:28492532

NCBI chr 5:37,667,070...37,677,802
Ensembl chr 5:38,196,327...38,206,313

G

phosphodiesterase 8B

ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2

PMID:16507770 PMID:23403622 PMID:28492532

NCBI chr 5:37,874,089...38,121,322
Ensembl chr 5:38,402,790...38,617,743

G

S100 calcium binding protein Z

ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2

PMID:16507770 PMID:23403622 PMID:28492532

NCBI chr 5:38,383,062...38,427,515
Ensembl chr 5:38,965,891...38,968,358

G

secretory carrier membrane protein 1

ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2

PMID:16507770 PMID:23403622 PMID:28492532

NCBI chr 5:36,829,770...36,951,827
Ensembl chr 5:37,316,593...37,439,785

G

tubulin folding cofactor A

ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2

PMID:16507770 PMID:23403622 PMID:28492532

NCBI chr 5:37,530,924...37,615,330
Ensembl chr 5:38,060,398...38,144,457

G

WD repeat domain 41

ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2

PMID:16507770 PMID:23403622 PMID:28492532

NCBI chr 5:37,809,767...37,870,039
Ensembl chr 5:38,214,273...38,398,503

G

zinc finger BED-type containing 3

ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2

PMID:16507770 PMID:23403622 PMID:28492532

NCBI chr 5:38,214,260...38,229,373

Hermansky-Pudlak syndrome 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ceruloplasmin

ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 3

PMID:11590544 PMID:16199547 PMID:24033266 PMID:25741868 PMID:28492532 More...

NCBI chr 3:146,180,527...146,239,833
Ensembl chr 3:153,764,830...153,817,544

G

HPS3 biogenesis of lysosomal organelles complex 2 subunit 1

ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 3

PMID:9536098 PMID:11455388 PMID:11590544 PMID:16199547 PMID:17576681 More...

NCBI chr 3:146,147,140...146,190,793
Ensembl chr 3:153,725,008...153,769,060

Hermansky-Pudlak syndrome 4

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

HPS1 biogenesis of lysosomal organelles complex 3 subunit 1

ClinVar Annotator: match by term: Hermansky-Pudlak syndrome with pulmonary fibrosis

PMID:12442288 PMID:16185271 PMID:25741868 PMID:28492532

NCBI chr10:95,030,626...95,061,415
Ensembl chr10:98,526,113...98,552,922

G

HPS4 biogenesis of lysosomal organelles complex 3 subunit 2

ClinVar Annotator: match by term: HPS4-related condition | ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 4

PMID:11836498 PMID:12664304 PMID:15108212 PMID:16199547 PMID:20158590 More...

NCBI chr22:7,513,397...7,545,782
Ensembl chr22:25,236,360...25,268,699

Hermansky-Pudlak syndrome 5

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

HPS5 biogenesis of lysosomal organelles complex 2 subunit 2

ClinVar Annotator: match by term: HPS5-related condition | ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 5

PMID:12548288 PMID:15296495 PMID:16199547 PMID:21833017 PMID:22995991 More...

NCBI chr11:18,313,846...18,357,558
Ensembl chr11:17,999,116...18,042,724

Hermansky-Pudlak syndrome 6

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

HPS6 biogenesis of lysosomal organelles complex 2 subunit 3

ClinVar Annotator: match by term: HPS6-related condition | ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 6

PMID:12548288 PMID:17041891 PMID:19843503 PMID:20158590 PMID:24033266 More...

NCBI chr10:98,670,168...98,672,896
Ensembl chr10:102,139,439...102,141,766

Hermansky-Pudlak syndrome 7

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

dystrobrevin binding protein 1

ClinVar Annotator: match by term: DTNBP1-related condition | ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 7

PMID:12923531 PMID:23364359 PMID:24033266 PMID:25741868 PMID:28259707 More...

NCBI chr 6:15,377,263...15,523,317
Ensembl chr 6:15,741,698...15,887,256

Hermansky-Pudlak syndrome 8

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

biogenesis of lysosomal organelles complex 1 subunit 3

ClinVar Annotator: match by term: BLOC1S3-related condition | ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 8

PMID:16385460 PMID:22709368 PMID:24033266 PMID:25741868 PMID:28492532 More...

NCBI chr19:42,100,227...42,128,636

Hermansky-Pudlak syndrome 9

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

biogenesis of lysosomal organelles complex 1 subunit 6

ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 9

PMID:9536098 PMID:10610180 PMID:16199547 PMID:17576681 PMID:21665000 More...

NCBI chr15:24,469,225...24,553,163
Ensembl chr15:42,862,112...42,882,316

immunodeficiency 71

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

actin related protein 2/3 complex subunit 1B

ClinVar Annotator: match by term: ARPC1B-related condition | ClinVar Annotator: match by term: Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease

PMID:9536098 PMID:16199547 PMID:17576681 PMID:25741868 PMID:27965109 More...

NCBI chr 7:91,348,120...91,368,299
Ensembl chr 7:104,861,582...104,870,369

Isolated Macrothrombocytopenia 2, Autosomal Dominant

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

tubulin alpha 8

ClinVar Annotator: match by term: Macrothrombocytopenia, isolated, 2, autosomal dominant

PMID:25741868 PMID:28492532 PMID:34704371

NCBI chr22:1,541,154...1,561,852
Ensembl chr22:16,936,405...16,989,730

IVIC syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

spalt like transcription factor 4

ClinVar Annotator: match by term: Oculootoradial syndrome | ClinVar Annotator: match by term: SALL4-Related Spectrum Disorders

PMID:7395922 PMID:17256792 PMID:25741868 PMID:28492532

NCBI chr20:48,130,387...48,150,569
Ensembl chr20:49,254,039...49,273,589

Jacobsen Syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

acyl-CoA dehydrogenase family member 8

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr11:129,106,646...129,118,773
Ensembl chr11:132,964,071...132,976,092

G

acrosomal vesicle protein 1

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr11:120,493,328...120,502,632
Ensembl chr11:124,406,467...124,415,043

G

ADAM metallopeptidase with thrombospondin type 1 motif 15

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr11:125,264,129...125,291,655
Ensembl chr11:129,154,895...129,182,326

G

ADAM metallopeptidase with thrombospondin type 1 motif 8

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr11:125,220,258...125,244,841
Ensembl chr11:129,112,176...129,136,928

G

amyloid beta precursor like protein 2

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr11:124,881,191...124,944,472
Ensembl chr11:128,775,329...128,847,482

G

Rho GTPase activating protein 32

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr11:123,780,028...124,096,494
Ensembl chr11:127,684,622...127,909,822

G

beta-1,3-glucuronyltransferase 1

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr11:129,200,676...129,269,650
Ensembl chr11:133,089,603...133,117,492

G

BARX homeobox 2

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr11:124,187,026...124,264,154
Ensembl chr11:128,086,409...128,162,833

G

coiled-coil domain containing 15

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr11:119,781,702...119,872,629
Ensembl chr11:123,696,718...123,782,549

G

cell adhesion associated, oncogene regulated

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr11:120,772,160...120,877,529
Ensembl chr11:124,685,084...124,786,091

G

checkpoint kinase 1

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr11:120,446,352...120,478,207
Ensembl chr11:124,359,218...124,390,981

G

decapping enzyme, scavenger

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr11:121,119,720...121,159,513
Ensembl chr11:125,028,616...125,068,807

G

DEAD-box helicase 25

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr11:120,718,758...120,738,527
Ensembl chr11:124,632,841...124,667,585

G

EI24 autophagy associated transmembrane protein

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr11:120,389,136...120,404,347
Ensembl chr11:124,302,289...124,317,346

G

endothelial cell adhesion molecule

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr11:119,580,140...119,589,338
Ensembl chr11:123,495,779...123,504,938

G

ETS proto-oncogene 1, transcription factor

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr11:123,272,111...123,400,413
Ensembl chr11:127,174,721...127,288,673

G

family with sequence similarity 118 member B

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr11:121,025,604...121,076,860
Ensembl chr11:124,936,564...124,988,051

G

fasciculation and elongation protein zeta 1

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr11:120,272,187...120,322,600
Ensembl chr11:124,182,901...124,236,403

G

Fli-1 proto-oncogene, ETS transcription factor

ClinVar Annotator: match by term: 11q partial monosomy syndrome | ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

PMID:25741868 PMID:28255014 PMID:28492532 PMID:31064749 PMID:32581362

NCBI chr11:123,506,859...123,626,024
Ensembl chr11:127,409,301...127,530,312

G

FAD dependent oxidoreductase domain containing 1

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr11:121,083,245...121,096,296
Ensembl chr11:124,993,070...125,005,798

G

galactosidase beta 1 like 2

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr11:129,184,833...129,233,585
Ensembl chr11:133,052,848...133,087,425

G

galactosidase beta 1 like 3

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr11:129,126,472...129,172,535
Ensembl chr11:132,987,384...133,029,890

G

hepatic and glial cell adhesion molecule

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr11:119,746,915...119,764,062
Ensembl chr11:123,663,210...123,678,015

G

hepatocellular carcinoma, down-regulated 1

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr11:119,746,926...119,748,366
Ensembl chr11:123,661,843...123,662,109

G

HYLS1 centriolar and ciliogenesis associated

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr11:120,703,436...120,716,415

G

immunoglobulin superfamily member 9B

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr11:128,734,144...128,802,383
Ensembl chr11:132,615,398...132,664,811

G

junctional adhesion molecule 3

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr11:128,916,024...129,006,497
Ensembl chr11:132,783,580...132,864,657

G

potassium inwardly rectifying channel subfamily J member 1

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr11:123,649,466...123,680,149
Ensembl chr11:127,553,327...127,557,860

G

potassium inwardly rectifying channel subfamily J member 5

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr11:123,705,361...123,735,370
Ensembl chr11:127,606,208...127,634,213

G

KCNJ5 antisense RNA 1

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr11:123,715,331...123,718,621
Ensembl chr11:127,615,846...127,621,983

G

kirre like nephrin family adhesion molecule 3

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr11:121,236,962...121,821,806
Ensembl chr11:125,146,563...125,723,504

G

long intergenic non-protein coding RNA 2873

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr11:125,487,375...125,532,848

G

olfactory receptor 8A1

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr11:119,395,269...119,396,731
Ensembl chr11:123,310,904...123,311,884

G

olfactory receptor 8B12

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr11:119,367,996...119,368,928

G

olfactory receptor 8B4

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr11:119,250,801...119,251,733

G

olfactory receptor 8B3

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr11:119,223,013...119,224,485

G

Myb/SANT DNA binding domain containing 2

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr11:119,593,493...119,628,962
Ensembl chr11:123,509,696...123,543,184

G

non-SMC condensin II complex subunit D3

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr11:129,005,365...129,078,581
Ensembl chr11:132,865,349...132,935,590

G

nuclear factor related to kappaB binding protein

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr11:124,676,456...124,708,349
Ensembl chr11:128,572,240...128,601,779

G

neurogranin

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr11:119,566,934...119,574,248

G

neurotrimin

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr11:126,189,660...127,154,890
Ensembl chr11:130,617,876...131,037,876

G

opioid binding protein/cell adhesion molecule like

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr11:127,233,465...128,377,367

G

pannexin 3

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr11:119,438,866...119,452,174
Ensembl chr11:123,354,919...123,363,463

G

prostate and testis expressed 1

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr11:120,565,280...120,568,857
Ensembl chr11:124,478,417...124,480,839

G

prostate and testis expressed 2

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr11:120,595,136...120,703,189
Ensembl chr11:124,509,500...124,510,891

G

prostate and testis expressed 3

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr11:120,607,720...120,611,235
Ensembl chr11:124,520,239...124,523,719

G

prostate and testis expressed 4

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr11:120,651,794...120,659,020
Ensembl chr11:124,565,341...124,572,090

G

PBX/knotted 1 homeobox 2

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr11:119,991,916...120,259,800
Ensembl chr11:124,072,715...124,173,865

G

PR/SET domain 10

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr11:124,712,440...124,816,141
Ensembl chr11:128,607,600...128,710,156

G

pseudouridine synthase 3

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr11:120,709,264...120,718,773
Ensembl chr11:124,622,279...124,629,508

G

roundabout guidance receptor 3

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr11:119,692,232...119,708,309
Ensembl chr11:123,607,268...123,623,356

G

roundabout guidance receptor 4

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr11:119,711,023...119,724,701
Ensembl chr11:123,626,063...123,639,837

G

RNA pseudouridine synthase D4

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr11:120,997,815...121,025,558
Ensembl chr11:124,926,910...124,936,621

G

sialic acid acetylesterase

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr11:119,463,554...119,503,192
Ensembl chr11:123,378,866...123,416,935

G

solute carrier family 37 member 2

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr11:119,890,340...119,917,731
Ensembl chr11:123,804,677...123,832,326

G

sorting nexin 19

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr11:125,691,537...125,732,206
Ensembl chr11:129,581,876...129,622,517

G

sperm autoantigenic protein 17

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr11:119,501,604...119,526,103
Ensembl chr11:123,416,725...123,437,818

G

spermatogenesis associated 19

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

Ensembl chr11:132,550,916...132,555,821

G

SRP receptor subunit alpha

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr11:121,071,054...121,083,106
Ensembl chr11:124,987,307...124,993,347

G

ST14 transmembrane serine protease matriptase

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr11:125,001,771...125,021,371
Ensembl chr11:128,888,124...128,913,559

G

ST3 beta-galactoside alpha-2,3-sialyltransferase 4

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr11:121,169,213...121,228,287
Ensembl chr11:125,079,260...125,141,737

G

STT3 oligosaccharyltransferase complex catalytic subunit A

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr11:120,412,488...120,440,713
Ensembl chr11:124,325,762...124,353,596

G

transforming growth factor beta regulator 1

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr11:119,450,666...119,463,685
Ensembl chr11:123,365,974...123,378,463

G

thymocyte nuclear protein 1

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr11:129,101,422...129,106,521
Ensembl chr11:132,958,850...132,963,911

G

TIR domain containing adaptor protein

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr11:121,100,558...121,112,844
Ensembl chr11:125,018,064...125,022,309

G

transmembrane protein 218

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr11:119,924,220...119,938,931
Ensembl chr11:123,839,054...123,843,682

G

transmembrane protein 45B

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr11:124,629,967...124,673,385
Ensembl chr11:128,526,824...128,568,268

G

tumor protein p53 regulated apoptosis inducing protein 1

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr11:123,748,770...123,757,797
Ensembl chr11:127,650,841...127,659,213

G

VPS26 retromer complex component B

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr11:129,077,964...129,100,936
Ensembl chr11:132,936,077...132,958,364

G

V-set and immunoglobulin domain containing 2

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr11:119,573,939...119,579,988
Ensembl chr11:123,490,150...123,495,720

G

zinc finger and BTB domain containing 44

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr11:125,037,645...125,125,711
Ensembl chr11:128,929,826...128,964,790

juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

SMAD family member 4

ClinVar Annotator: match by term: JP/HHT SYNDROME | ClinVar Annotator: match by term: JUVENILE POLYPOSIS WITH HEREDITARY HEMORRHAGIC TELANGIECTASIA | ClinVar Annotator: match by term: Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome | ClinVar Annotator: match by term: TELANGIECTASIA, HEREDITARY HEMORRHAGIC, WITH JUVENILE POLYPOSIS COLI

PMID:6604412 PMID:8898652 PMID:9214508 PMID:9285566 PMID:9536098 More...

NCBI chr18:44,402,112...44,456,779
Ensembl chr18:47,764,568...47,797,359

Kaposiform Hemangioendothelioma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

fibroblast growth factor 2

NCBI chr 4:115,005,136...115,076,369
Ensembl chr 4:126,149,813...126,214,942

G

G protein subunit alpha 14

ClinVar Annotator: match by term: Kaposiform hemangioendothelioma

PMID:25741868 PMID:27476652

NCBI chr 9:47,196,338...47,423,388

lymphoplasmacytic lymphoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

C-X-C motif chemokine receptor 4

disease_progression

DNA:mutation:cds:1013C>G(p.S338X)(human)

NCBI chr2B:23,744,271...23,748,106
Ensembl chr2B:140,181,829...140,189,647

G

Fc gamma receptor IIIa

disease_progression
treatment

DNA:polymorphism: :
DNA:SNP:exon:p.F158V (rs396991) (human)

PMID:15659493 PMID:21564078

RGD:11040774 RGD:11352262

NCBI chr 1:137,027,943...137,036,738

G

glutathione peroxidase 3

protein:increased expression:bone marrow

NCBI chr 5:146,447,939...146,456,476

G

interleukin 10

DNA:SNPs: :multiple

NCBI chr 1:182,369,234...182,374,207
Ensembl chr 1:186,648,289...186,653,371

G

interleukin 6

no_association

DNA:SNPs: :rs6952003, rs7801617, rs10156056 (human)
DNA:SNPs: :multiple

NCBI chr 7:23,415,922...23,420,767

G

interferon regulatory factor 4

NCBI chr 6:206,282...226,487
Ensembl chr 6:342,718...356,654

G

MYD88 innate immune signal transduction adaptor

ClinVar Annotator: match by term: Macroglobulinemia, Waldenstrom, somatic

PMID:21179087 PMID:22931316 PMID:23215570 PMID:23355535 PMID:26619011 More...

NCBI chr 3:38,036,565...38,041,014
Ensembl chr 3:38,319,024...38,323,572

multiple myeloma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily G member 2 (JR blood group)

treatment

PMID:16917002 PMID:26314844

RGD:11081075 RGD:11081144

NCBI chr 4:80,379,108...80,446,641
Ensembl chr 4:91,101,321...91,170,157

G

angiotensin I converting enzyme

protein:increased activity:serum

NCBI chr17:57,556,294...57,577,294
Ensembl chr17:62,702,341...62,733,853

G

albumin

disease_progression

NCBI chr 4:50,773,244...50,790,474
Ensembl chr 4:56,605,322...56,622,418

G

alkB homolog 5, RNA demethylase

CTD Direct Evidence: marker/mechanism

NCBI chr17:32,725,632...32,753,021
Ensembl chr17:38,003,362...38,030,715

G

apolipoprotein E

treatment

NCBI chr19:41,853,669...41,857,252
Ensembl chr19:50,459,906...50,463,490

G

AT-rich interaction domain 4A

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr14:38,890,688...38,965,928
Ensembl chr14:57,159,399...57,233,825

G

ATM serine/threonine kinase

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr11:103,109,979...103,256,405
Ensembl chr11:106,584,228...106,727,041

G

aurora kinase A

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr20:52,707,757...52,730,579
Ensembl chr20:53,994,881...54,017,339

G

beta-2-microglobulin

ClinVar Annotator: match by term: Myelomatosis

NCBI chr15:23,668,108...23,674,791
Ensembl chr15:41,836,345...41,842,991

G

BRCA1 associated protein 1

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 3:52,344,067...52,352,187
Ensembl chr 3:53,573,785...53,581,943

G

BRCA1 associated RING domain 1

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr2B:101,984,287...102,068,523
Ensembl chr2B:220,456,972...220,541,145

G

BCL2 apoptosis regulator

CTD Direct Evidence: marker/mechanism

NCBI chr18:56,481,212...56,679,012
Ensembl chr18:59,802,443...59,992,100

G

BCL2 like 1

CTD Direct Evidence: marker/mechanism

PMID:12429644 PMID:14656874

NCBI chr20:27,955,688...28,015,950
Ensembl chr20:29,088,055...29,146,585

G

BCL2 like 10

NCBI chr15:31,049,509...31,057,273
Ensembl chr15:49,376,576...49,380,109

G

BCL6 corepressor like 1

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr X:119,108,049...119,185,165
Ensembl chr X:129,403,888...129,479,297

G

BCL2 interacting protein 3

CTD Direct Evidence: marker/mechanism

NCBI chr10:128,671,663...128,685,952
Ensembl chr10:132,858,211...132,871,634

G

B-Raf proto-oncogene, serine/threonine kinase

ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Myelomatosis

PMID:2493360 PMID:12068308 PMID:12198537 PMID:12447372 PMID:12460918 More...

NCBI chr 7:132,651,908...132,855,422
Ensembl chr 7:145,138,510...145,327,115

G

BTG anti-proliferation factor 1

CTD Direct Evidence: marker/mechanism

NCBI chr12:89,678,431...89,681,177
Ensembl chr12:92,992,584...92,994,038

G

Cbl proto-oncogene

mRNA:decreased expression:mononuclear cell:

NCBI chr11:114,044,996...114,149,204
Ensembl chr11:117,973,187...118,074,671

G

chromobox 7

susceptibility

DNA:snp:intron:c.113+3502C>T (human) (rs877529)
CTD Direct Evidence: marker/mechanism

NCBI chr22:20,037,529...20,059,459
Ensembl chr22:37,854,056...37,876,084

G

C-C motif chemokine ligand 2

CTD Direct Evidence: marker/mechanism

NCBI chr17:22,528,154...22,530,091
Ensembl chr17:22,820,890...22,823,384

G

cellular communication network factor 1

exacerbates

mRNA, protein:increased expression:bone marrow (human)
mRNA,protein:increased expression:bone marrow (human)

PMID:25061178 PMID:28035364

RGD:329845528 RGD:329845546

NCBI chr 1:118,138,739...118,141,681
Ensembl chr 1:86,994,296...86,997,147

G

cyclin D1

susceptibility

ClinVar Annotator: match by term: MULTIPLE MYELOMA, t(11;14) TYPE, SUSCEPTIBILITY TO

PMID:10667569 PMID:11459873 PMID:12097293 PMID:23502783 PMID:24870244 More...

NCBI chr11:64,737,006...64,750,353

G

cyclin D2

NCBI chr12:4,385,957...4,417,602
Ensembl chr12:4,309,272...4,335,551

G

cyclin D3

NCBI chr 6:41,518,421...41,630,103
Ensembl chr 6:42,820,569...42,827,498

G

CD40 molecule

treatment

human cells in a mouse model

NCBI chr20:42,455,711...42,467,139
Ensembl chr20:43,541,619...43,552,994

G

CD40 ligand

treatment
disease_progression

protein:increased expression:serum (human)

PMID:15565183 PMID:22403003 PMID:27243341

RGD:11352240 RGD:11352251 RGD:11352268

NCBI chr X:125,776,138...125,788,820
Ensembl chr X:136,042,849...136,058,202

G

CD46 molecule

protein:increased expression:plasma cell (human)

NCBI chr 1:183,330,423...183,373,916
Ensembl chr 1:188,031,758...188,182,046

G

CD86 molecule

severity

CTD Direct Evidence: marker/mechanism
protein:increased expression:bone marrow, plasma cell (human)

PMID:16611307 PMID:22705596

NCBI chr 3:119,151,884...119,217,641
Ensembl chr 3:126,059,008...126,124,339

G

cyclin dependent kinase 4

ClinVar Annotator: match by term: Multiple myeloma

PMID:5377176 PMID:7652577 PMID:8528263 PMID:8968104 PMID:9228064 More...

NCBI chr12:31,174,446...31,178,597
Ensembl chr12:31,434,594...31,438,876

G

cyclin dependent kinase inhibitor 2A

disease_progression

CTD Direct Evidence: marker/mechanism
DNA:hypermethylation::

PMID:12681979 PMID:16008847

NCBI chr 9:21,803,862...21,831,322

G

cyclin dependent kinase inhibitor 2C

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 1:50,214,767...50,221,465
Ensembl chr 1:51,704,528...51,718,374

G

chitinase 3 like 1

severity

protein:increased secretion:serum (human)

NCBI chr 1:178,778,081...178,789,704
Ensembl chr 1:183,075,312...183,083,229

G

cereblon

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 3:3,091,328...3,121,364
Ensembl chr 3:3,190,979...3,225,345

G

CREB binding protein

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr16:2,645,445...2,800,975
Ensembl chr16:3,820,519...3,974,206

G

colony stimulating factor 2

CTD Direct Evidence: therapeutic

PMID:7540856 PMID:8104070 PMID:8555506

NCBI chr 5:127,496,951...127,499,325
Ensembl chr 5:133,660,775...133,663,146

G

colony stimulating factor 3

CTD Direct Evidence: therapeutic

PMID:7534716 PMID:7540856

NCBI chr17:17,271,074...17,273,493
Ensembl chr17:17,491,276...17,493,729

G

cytotoxic T-lymphocyte associated protein 4

susceptibility

DNA:microsatellite polymorphism:exon: :

NCBI chr2B:91,054,917...91,106,234
Ensembl chr2B:209,239,417...209,244,498

G

CYLD lysine 63 deubiquitinase

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr16:31,004,393...31,064,546
Ensembl chr16:49,882,751...49,942,629

G

cytochrome P450 family 1 subfamily A member 1

susceptibility

DNA:polymorphisms:3'UTR,cds:3801T>C,12455A>G(human)

NCBI chr15:53,664,968...53,672,277
Ensembl chr15:73,284,566...73,290,636

G

cytochrome P450 family 2 subfamily C member 19

no_association
treatment

DNA:polymorphisms: :

PMID:17666363 PMID:20684753

RGD:11352748 RGD:11352804

NCBI chr10:91,375,255...91,465,215
Ensembl chr10:94,884,472...94,970,065

G

DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr13:53,982,914...54,011,076
Ensembl chr13:72,760,610...72,787,325

G

DNA methyltransferase 3 alpha

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr2A:25,229,593...25,344,733
Ensembl chr2A:25,331,095...25,412,605

G

desmoglein 2

disease_progression

NCBI chr18:24,716,181...24,766,837
Ensembl chr18:28,313,223...28,363,786

G

eukaryotic translation initiation factor 1A X-linked

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr X:12,743,907...12,764,313
Ensembl chr X:20,103,872...20,123,464

G

endoglin

severity

protein:increased expression:serum:

NCBI chr 9:98,934,080...98,973,862
Ensembl chr 9:127,605,608...127,644,641

G

epoxide hydrolase 1

susceptibility
no_association

DNA:SNPs:exon:p.Y113H (rs1051740), p.H139R (rs2234922) (human)
CTD Direct Evidence: marker/mechanism
DNA:SNP:exon:rs2234922 (human)

PMID:16949155 PMID:19736056 PMID:24521996

RGD:11252116 RGD:11252121 RGD:11252122

NCBI chr 1:201,271,366...201,306,635
Ensembl chr 1:206,272,866...206,307,581

G

ERCC excision repair 1, endonuclease non-catalytic subunit

treatment

DNA:SNP: :rs735482 (human)

NCBI chr19:42,356,039...42,427,754
Ensembl chr19:50,951,674...50,968,430

G

ERCC excision repair 2, TFIIH core complex helicase subunit

disease_progression
sexual_dimorphism

DNA:polymorphism: :p.K751Q (rs13181) (human)
DNA:SNP:exon 23:p.K751Q (rs1052559)(Human)

PMID:17131345 PMID:22183071

RGD:11252199 RGD:401827277

NCBI chr19:42,298,927...42,319,816
Ensembl chr19:50,897,004...50,915,819

G

ETS2 repressor factor

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr19:39,135,757...39,143,343
Ensembl chr19:47,728,192...47,735,808

G

Fas ligand

disease_progression

NCBI chr 1:148,159,826...148,167,785
Ensembl chr 1:151,868,430...151,876,281

G

FAT atypical cadherin 1

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 4:178,752,261...178,895,038
Ensembl chr 4:190,952,737...191,093,357

G

fibroblast growth factor receptor 3

ClinVar Annotator: match by term: Myelomatosis

PMID:1908846 PMID:7773297 PMID:8599935 PMID:8640234 PMID:8754806 More...

NCBI chr 4:1,933,172...1,948,742
Ensembl chr 4:1,843,774...1,861,692

G

fibrinogen gamma chain

treatment

NCBI chr 4:146,970,671...146,979,348
Ensembl chr 4:158,788,966...158,797,237

G

fms related receptor tyrosine kinase 3

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr13:9,283,747...9,381,553
Ensembl chr13:27,627,178...27,723,940

G

fms related receptor tyrosine kinase 3 ligand

disease_progression

protein:increased expression:serum:

NCBI chr19:46,486,169...46,499,008

G

FTO alpha-ketoglutarate dependent dioxygenase

mRNA:increased expression:bone marrow

NCBI chr16:33,939,300...34,343,419
Ensembl chr16:53,023,425...53,490,231

G

glutathione peroxidase 1

NCBI chr 3:49,280,038...49,281,455
Ensembl chr 3:50,360,947...50,361,826

G

glutathione peroxidase 3

disease_progression

DNA:hypermethylation: :

NCBI chr 5:146,447,939...146,456,476

G

glutathione S-transferase mu 1

severity
no_association

PMID:15136237 PMID:17653713

RGD:10450826 RGD:10450846

Ensembl chr 1:127,979,238...128,010,411

G

glutathione S-transferase pi 1

no_association
treatment
disease_progression

DNA:polymorphism:cds:p.I105V(human)
DNA:polymorphism: :

PMID:17512053 PMID:18061666 PMID:23953887

RGD:10755413 RGD:10755419 RGD:11075094

NCBI chr11:62,942,756...62,945,701
Ensembl chr11:66,253,421...66,256,472

G

H1.4 linker histone, cluster member

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 6:25,992,845...26,006,585
Ensembl chr 6:26,652,151...26,652,810
Ensembl chr 6:26,652,151...26,652,810

G

histone deacetylase 4

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr2B:126,287,745...126,649,815
Ensembl chr2B:245,123,061...245,427,054

G

homeostatic iron regulator

susceptibility

DNA:missense mutation, haplotype:cds:p.C282Y (human)

NCBI chr 6:25,921,663...25,930,852
Ensembl chr 6:26,580,358...26,588,591

G

hexokinase 1

NCBI chr10:65,786,940...65,870,204
Ensembl chr10:68,289,288...68,401,045

G

HRas proto-oncogene, GTPase

ClinVar Annotator: match by term: Myelomatosis
ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Myelomatosis

PMID:11150980 PMID:12835555 PMID:16155195 PMID:16170316 PMID:16329078 More...

NCBI chr11:537,488...540,810
Ensembl chr11:568,305...571,078

G

heat shock protein family B (small) member 1

CTD Direct Evidence: marker/mechanism

NCBI chr 7:67,716,021...67,717,762
Ensembl chr 7:82,751,523...82,752,984

G

intercellular adhesion molecule 1

treatment

protein:increased expression:serum:

PMID:7686390 PMID:7834632

RGD:11354981 RGD:11520780

NCBI chr19:9,821,402...9,837,021
Ensembl chr19:10,484,414...10,500,605

G

isocitrate dehydrogenase (NADP(+)) 1

ClinVar Annotator: match by term: Myelomatosis

PMID:18772396 PMID:19657110 PMID:19798509 PMID:19818334 PMID:20946881 More...

NCBI chr2B:95,475,320...95,494,286
Ensembl chr2B:213,599,036...213,617,175

G

isocitrate dehydrogenase (NADP(+)) 2

ClinVar Annotator: match by term: Myelomatosis

PMID:20171147 PMID:20847235 PMID:20946881 PMID:21647154 PMID:21889589 More...

NCBI chr15:68,771,050...68,790,523
Ensembl chr15:87,972,889...87,991,276

G

insulin like growth factor 2 receptor

protein:increased expression:serum,urine:

NCBI chr 6:157,852,565...157,990,049
Ensembl chr 6:162,878,661...162,997,762

G

interleukin 10

disease_progression

protein:increased expression:serum
DNA:SNP, polymorphisms:promoter:-1082G>A, (human)

PMID:11022130 PMID:11307152

RGD:11041888 RGD:11049458

NCBI chr 1:182,369,234...182,374,207
Ensembl chr 1:186,648,289...186,653,371

G

interleukin 1 alpha

DNA:SNP:promoter:-511C>T (human)
DNA:SNP:promoter:-889C>T (human)

PMID:1777241 PMID:17926179 PMID:25469832

RGD:11049156 RGD:11051973 RGD:11059513

NCBI chr2A:89,273,482...89,284,421
Ensembl chr2A:113,784,854...113,795,801

G

interleukin 1 beta

DNA:SNPs:promoter, exon:-511C>T, 3954T>C (human)

NCBI chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424

G

interleukin 1 receptor antagonist

no_association

DNA:repeats:intron:
DNA:snp: :11100C>T (human)

PMID:10848780 PMID:17926179

RGD:11051973 RGD:11522764

NCBI chr2A:88,991,646...89,008,013
Ensembl chr2A:114,061,182...114,078,839

G

interleukin 4 receptor

susceptibility

DNA:SNP: :-228120T>C(rs2107356)(human)

Ensembl chr16:27,642,702...27,737,445

G

interleukin 6

CTD Direct Evidence: marker/mechanism

PMID:8520508 PMID:12855565 PMID:19330649

NCBI chr 7:23,415,922...23,420,767

G

interleukin 7 receptor

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 5:74,489,188...74,516,330
Ensembl chr 5:79,769,859...79,792,612

G

interferon regulatory factor 4

disease_progression
treatment

DNA:translocation
CTD Direct Evidence: marker/mechanism

PMID:10557056 PMID:17690696 PMID:18568025 PMID:21707574

RGD:11526161 RGD:11530019 RGD:11530055

NCBI chr 6:206,282...226,487
Ensembl chr 6:342,718...356,654

G

interferon regulatory factor 8

DNA:hypermethylation

NCBI chr16:66,568,370...66,591,949
Ensembl chr16:85,905,334...85,929,073

G

lysine demethylase 5C

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr X:45,377,609...45,440,025
Ensembl chr X:53,515,886...53,548,785

G

lysine methyltransferase 2C

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 7:143,714,716...144,016,188
Ensembl chr 7:155,862,610...156,081,043

G

lysine methyltransferase 2D

ClinVar Annotator: match by term: Multiple myeloma

PMID:22126750 PMID:24633898 PMID:25326635 PMID:25741868 PMID:27530205 More...

NCBI chr12:39,689,463...39,731,904
Ensembl chr12:40,575,083...40,608,661

G

KRAS proto-oncogene, GTPase

ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Myelomatosis

PMID:2278970 PMID:3122217 PMID:12460918 PMID:15696205 PMID:16361624 More...

NCBI chr12:61,062,689...61,108,524
Ensembl chr12:63,679,293...63,724,335

G

DNA ligase 4

ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Multiple myeloma, resistance to | ClinVar Annotator: match by term: Myelomatosis

PMID:11779494 PMID:12471202 PMID:15333585 PMID:16088910 PMID:24033266 More...

NCBI chr13:89,336,434...89,347,418
Ensembl chr13:108,475,820...108,478,555

G

interferon alpha-2

CTD Direct Evidence: therapeutic

PMID:3597002 PMID:8833401 PMID:9234591

NCBI chr 9:21,245,017...21,246,210
Ensembl chr 9:21,863,062...21,863,736

G

cytochrome P450 2D6-like

no_association

DNA:polymorphisms: :

NCBI chr22:23,022,449...23,031,627

G

histone H2A type 1

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 6:27,695,226...27,696,385
Ensembl chr 6:28,342,376...28,342,768

G

E3 SUMO-protein ligase RanBP2

mRNA:increased expression:bone marrow, plasma cell (human)

NCBI chr2A:94,961,024...95,029,437

G

histone H2A type 1

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 6:27,722,059...27,722,862
Ensembl chr 6:28,396,657...28,397,049

G

low affinity immunoglobulin gamma Fc region receptor II-a

disease_progression
susceptibility

DNA:polymorphism: :rs1801274(human)

PMID:17315188 PMID:25850245

RGD:11040778 RGD:11040938

NCBI chr 1:136,892,311...136,906,450

G

leucine rich repeat containing 56

ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Myelomatosis

PMID:11150980 PMID:12835555 PMID:16155195 PMID:16170316 PMID:16329078 More...

NCBI chr11:514,227...559,838
Ensembl chr11:575,495...588,750

G

MCL1 apoptosis regulator, BCL2 family member

CTD Direct Evidence: marker/mechanism

NCBI chr 1:125,918,760...125,923,952
Ensembl chr 1:129,566,827...129,572,086

G

MEFV innate immunity regulator, pyrin

susceptibility

DNA:polymorphisms:cds:p.E148Q,M694V(human)

NCBI chr16:2,175,858...2,191,056
Ensembl chr16:3,353,666...3,368,970

G

MET proto-oncogene, receptor tyrosine kinase

NCBI chr 7:108,646,278...108,772,238
Ensembl chr 7:121,365,438...121,468,159

G

methyltransferase 14, N6-adenosine-methyltransferase non-catalytic subunit

CTD Direct Evidence: marker/mechanism

NCBI chr 4:110,879,137...110,905,131
Ensembl chr 4:121,431,026...121,458,392

G

methyltransferase 3, N6-adenosine-methyltransferase complex catalytic subunit

CTD Direct Evidence: marker/mechanism

NCBI chr14:2,315,868...2,329,460
Ensembl chr14:20,392,665...20,405,906

G

MAX dimerization protein MGA

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr15:20,560,842...20,710,269
Ensembl chr15:38,839,708...38,948,847

G

macrophage stimulating 1 receptor

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 3:49,818,538...49,835,713
Ensembl chr 3:51,054,795...51,072,401

G

methylenetetrahydrofolate reductase

DNA:missense mutations:cds:677C>T, 1298A>C (human)

NCBI chr 1:10,548,196...10,568,174
Ensembl chr 1:11,766,334...11,785,419

G

5-methyltetrahydrofolate-homocysteine methyltransferase

susceptibility

DNA:polymorphism: :2756A>G(human)

NCBI chr 1:212,353,195...212,463,304
Ensembl chr 1:217,358,050...217,460,946

G

5-methyltetrahydrofolate-homocysteine methyltransferase reductase

susceptibility

DNA:polymorphism: :66G>A(human)

NCBI chr 5:8,195,868...8,228,071
Ensembl chr 5:8,017,403...8,049,322

G

mucin 1, cell surface associated

CTD Direct Evidence: marker/mechanism

NCBI chr 1:130,533,508...130,537,866
Ensembl chr 1:134,141,969...134,145,850

G

MYD88 innate immune signal transduction adaptor

ClinVar Annotator: match by term: Myelomatosis

PMID:21179087 PMID:22931316 PMID:23215570 PMID:23355535 PMID:26619011 More...

NCBI chr 3:38,036,565...38,041,014
Ensembl chr 3:38,319,024...38,323,572

G

nuclear receptor corepressor 2

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr12:121,913,368...122,155,031
Ensembl chr12:126,201,779...126,372,745

G

neurofibromin 1

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr17:25,425,081...25,703,689
Ensembl chr17:26,160,855...26,439,295

G

NFKB inhibitor alpha

DNA:polymorphism

PMID:12377412 PMID:16540234

RGD:2298895 RGD:2298898

NCBI chr14:16,155,331...16,158,588

G

NK2 homeobox 1

ClinVar Annotator: match by term: Multiple myeloma

G

non-POU domain containing octamer binding

exacerbates

mRNA:increased expression: (human)

NCBI chr X:60,547,277...60,564,845
Ensembl chr X:70,602,456...70,619,956

G

notch receptor 2

protein:increased expression:bone marrow (human)

NCBI chr 1:82,457,829...82,615,142
Ensembl chr 1:117,538,243...117,612,840

G

NADPH oxidase 1

protein:increased expression:serum

NCBI chr X:90,046,023...90,076,968
Ensembl chr X:100,182,398...100,215,192

G

NAD(P)H quinone dehydrogenase 1

no_association

CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:p.P187S (human)
DNA:missense mutation:cds:p.P187S (609C>T) (human)

PMID:16949155 PMID:18061666 PMID:18156703

RGD:10755419 RGD:10769348

NCBI chr16:50,090,696...50,106,495
Ensembl chr16:69,470,288...69,489,731

G

NRAS proto-oncogene, GTPase

treatment

DNA:mutation: :
ClinVar Annotator: match by term: Myelomatosis

PMID:1654209 PMID:2278970 PMID:2407301 PMID:2674680 PMID:2989702 More...

NCBI chr 1:87,837,146...87,850,013
Ensembl chr 1:122,890,505...122,903,585

G

NUAK family kinase 1

CTD Direct Evidence: marker/mechanism

NCBI chr12:103,642,744...103,720,352
Ensembl chr12:107,037,627...107,113,163

G

P2Y receptor family member 8

ClinVar Annotator: match by term: Multiple myeloma

Ensembl chr X:1,599,411...1,600,490

G

poly(ADP-ribose) polymerase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:201,820,355...201,867,673
Ensembl chr 1:206,812,981...206,860,356

G

platelet factor 4

ameliorates

NCBI chr 4:50,208,806...50,210,570
Ensembl chr 4:56,041,833...56,043,750

G

phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha

ClinVar Annotator: match by term: Myelomatosis

PMID:17376864 PMID:18074223 PMID:20581867 PMID:25741868 PMID:26619011 More...

NCBI chr 3:176,182,765...176,272,024
Ensembl chr 3:184,355,785...184,441,977

G

phosphoinositide-3-kinase regulatory subunit 2

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr19:17,632,265...17,649,664
Ensembl chr19:18,611,179...18,624,177

G

PML nuclear body scaffold

severity

protein:increased expression:bone marrow (human)

NCBI chr15:52,903,874...52,955,151
Ensembl chr15:71,658,884...71,710,883

G

RNA polymerase I subunit G

sexual_dimorphism

DNA:SNP:exon 1: p.G-21A (rs967591) (human)

NCBI chr19:42,354,919...42,359,537
Ensembl chr19:50,951,038...50,953,826

G

paraoxonase 1

susceptibility
severity
treatment

DNA:missense mutation:cds:p.Q192R (human)
protein:decreased activity:serum (human)

PMID:15136237 PMID:22348216 PMID:25520116

RGD:10450846 RGD:11040544 RGD:11552578

NCBI chr 7:87,253,476...87,279,650
Ensembl chr 7:100,841,286...100,867,493

G

protein arginine methyltransferase 5

CTD Direct Evidence: marker/mechanism

NCBI chr14:3,737,741...3,746,646
Ensembl chr14:21,836,984...21,846,018

G

psoriasis susceptibility 1 candidate 2

CTD Direct Evidence: marker/mechanism

NCBI chr 6:30,883,467...30,888,231
Ensembl chr 6:31,748,923...31,750,739

G

parathyroid hormone like hormone

CTD Direct Evidence: marker/mechanism

NCBI chr12:58,341,361...58,355,804
Ensembl chr12:60,960,071...60,973,750

G

protein tyrosine phosphatase non-receptor type 11

ClinVar Annotator: match by term: Myelomatosis

PMID:11704759 PMID:12634870 PMID:12717436 PMID:14644997 PMID:14974085 More...

NCBI chr12:110,016,364...110,107,462
Ensembl chr12:113,435,669...113,503,762

G

RB binding protein 8, endonuclease

exacerbates

mRNA:increased expression:bone marrow, plasma cell (human)

NCBI chr18:16,181,652...16,274,597
Ensembl chr18:19,811,989...19,903,522

G

retinol binding protein 1

disease_progression

DNA:hypermethylation: :

NCBI chr 3:136,554,315...136,576,682
Ensembl chr 3:144,153,937...144,176,209

G

RecQ like helicase 4

ClinVar Annotator: match by term: Multiple myeloma

Ensembl chr 8:144,267,101...144,276,985

G

roundabout guidance receptor 1

ameliorates

NCBI chr 3:78,707,802...79,876,519
Ensembl chr 3:80,581,388...81,569,308

G

RUNX family transcription factor 1

mRNA:splice variant

NCBI chr21:21,159,586...21,423,946
Ensembl chr21:34,530,956...34,788,544

G

retinoid X receptor alpha

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 9:105,424,046...105,539,241
Ensembl chr 9:134,082,865...134,144,704

G

SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr20:33,224,200...33,282,018
Ensembl chr20:34,341,367...34,398,314

G

serum/glucocorticoid regulated kinase 1

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 6:131,936,397...132,082,670
Ensembl chr 6:136,033,851...136,180,121

G

SH2B adaptor protein 3

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr12:108,977,344...109,024,029

G

superoxide dismutase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 6:157,562,814...157,610,155
Ensembl chr 6:162,576,082...162,589,960

G

secreted protein acidic and cysteine rich

disease_progression

CTD Direct Evidence: marker/mechanism
DNA:hypermethylation: :

PMID:18172295 PMID:23699600

NCBI chr 5:147,087,903...147,112,466
Ensembl chr 5:153,090,181...153,115,750

G

secreted phosphoprotein 1

NCBI chr 4:80,263,711...80,271,466
Ensembl chr 4:90,988,200...90,995,935

G

transcription factor 3

ClinVar Annotator: match by term: Multiple myeloma

Ensembl chr19:1,582,297...1,622,025

G

telomerase reverse transcriptase

Ensembl chr 5:1,300,960...1,338,872

G

tet methylcytosine dioxygenase 2

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 4:97,612,439...97,745,544
Ensembl chr 4:108,269,082...108,358,400

G

tet methylcytosine dioxygenase 3

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr2A:74,058,948...74,180,046
Ensembl chr2A:75,568,636...75,682,701

G

transferrin receptor

treatment

NCBI chr 3:193,384,817...193,417,532
Ensembl chr 3:203,333,953...203,373,998

G

transforming growth factor beta 1

disease_progression

protein:decreased expression:serum:
DNA:hypermethylation: :

PMID:22560388 PMID:23699600

RGD:11073605 RGD:11073614

NCBI chr19:38,324,009...38,347,003
Ensembl chr19:46,831,659...46,852,973

G

tumor necrosis factor

treatment
no_association

DNA:SNP:promoter:-238G>A (human)
DNA:SNP:promoter:-308G>A (human)

PMID:12200397 PMID:12815949

RGD:10449450 RGD:10449453

NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381

G

TNF receptor superfamily member 10a

treatment

NCBI chr 8:22,440,502...22,476,790
Ensembl chr 8:19,378,547...19,414,724

G

TNF receptor superfamily member 13B

CTD Direct Evidence: marker/mechanism

NCBI chr17:34,321,121...34,355,020
Ensembl chr17:39,252,858...39,292,053

G

TNF receptor superfamily member 17

NCBI chr16:10,903,795...10,906,542
Ensembl chr16:12,333,254...12,336,219

G

TNF superfamily member 8

CTD Direct Evidence: marker/mechanism

NCBI chr 9:85,998,567...86,036,373
Ensembl chr 9:114,360,206...114,397,822

G

tumor protein p53

disease_progression
treatment

DNA:polymorphism:cds:p.R72P(human)
ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Myelomatosis
protein:increased expression:nucleus:
DNA:deletion: :

PMID:253702 PMID:960674 PMID:1359493 PMID:1565143 PMID:1565144 More...

RGD:11073716 RGD:11073728 RGD:11075073

NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120

G

tRNA nucleotidyl transferase 1

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 3:3,069,858...3,095,006
Ensembl chr 3:3,173,943...3,194,672

G

thymidylate synthetase

treatment
no_association

DNA:polymorphism: :
DNA:repeats:5'UTR:

PMID:17512053 PMID:17655928

RGD:11075094 RGD:11075095

NCBI chr18:13,653,085...13,668,478
Ensembl chr18:17,295,182...17,310,320

G

unc-51 like kinase 4

CTD Direct Evidence: marker/mechanism

NCBI chr 3:41,152,261...41,864,865
Ensembl chr 3:41,568,907...42,121,959

G

vascular endothelial growth factor A

susceptibility

DNA:SNPs,haplotypes: :rs699947,rs1570360, rs2010963(human)

NCBI chr 6:43,361,053...43,377,366
Ensembl chr 6:44,650,365...44,666,353

G

xanthine dehydrogenase

protein:increased expression:serum

NCBI chr2A:31,356,011...31,435,111
Ensembl chr2A:31,425,183...31,504,455

G

exportin 5

severity

DNA:snp:3' utr:c.*659A>C (rs11077) (human)

NCBI chr 6:43,114,408...43,168,113
Ensembl chr 6:44,406,765...44,458,029

G

X-ray repair cross complementing 3

disease_progression

DNA:SNP,haplotype:: p.T241M (rs861535) (Human)

NCBI chr14:84,323,644...84,341,763
Ensembl chr14:104,131,903...104,149,037

G

X-ray repair cross complementing 4

susceptibility

DNA:SNPs:multiple (human)

NCBI chr 5:31,927,463...32,202,394
Ensembl chr 5:32,246,320...32,521,490

G

X-ray repair cross complementing 5

susceptibility

DNA:SNP:3'-UTR (human)

NCBI chr2B:103,371,459...103,468,419
Ensembl chr2B:221,972,742...222,071,235

G

Yes1 associated transcriptional regulator

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr11:97,061,367...97,186,961
Ensembl chr11:100,552,424...100,681,301

G

YTH N6-methyladenosine RNA binding protein F1

CTD Direct Evidence: marker/mechanism

NCBI chr20:59,575,703...59,596,447
Ensembl chr20:61,116,645...61,135,769

G

YY1 transcription factor

CTD Direct Evidence: marker/mechanism

NCBI chr14:80,859,491...80,903,651

MYH-9 related disease

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

myosin heavy chain 9

ClinVar Annotator: match by term: MYH9-related disorder | ClinVar Annotator: match by term: Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss | ClinVar Annotator: match by term: Sebastian platelet syndrome

PMID:1449176 PMID:5011389 PMID:8280620 PMID:9390828 PMID:9536098 More...

NCBI chr22:17,200,623...17,305,826
Ensembl chr22:35,039,101...35,121,618

G

tubulin beta 1 class VI

ClinVar Annotator: match by term: Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss

NCBI chr20:55,370,122...55,377,616
Ensembl chr20:56,730,882...56,738,741

Neonatal Alloimmune Thrombocytopenia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

integrin subunit alpha 2

ClinVar Annotator: match by term: Fetal and neonatal alloimmune thrombocytopenia

PMID:23368983 PMID:25741868

NCBI chr 5:60,935,452...61,040,726
Ensembl chr 5:62,555,370...62,659,720

G

integrin subunit alpha 2b

ClinVar Annotator: match by term: BAK PLATELET-SPECIFIC ANTIGEN

PMID:2014236 PMID:25741868 PMID:28492532

NCBI chr17:13,009,514...13,027,289
Ensembl chr17:13,176,843...13,193,269

G

integrin subunit beta 3

ClinVar Annotator: match by term: Ca/Tu ALLOANTIGEN POLYMORPHISM | ClinVar Annotator: match by term: Fetal and neonatal alloimmune thrombocytopenia | ClinVar Annotator: match by term: Mo ALLOANTIGEN POLYMORPHISM | ClinVar Annotator: match by term: PEN(a)/PEN(b) ALLOANTIGEN POLYMORPHISM

PMID:1430225 PMID:2257303 PMID:7694683 PMID:8093349 PMID:8457479 More...

NCBI chr17:10,134,450...10,194,596
Ensembl chr17:10,353,111...10,392,382

occipital horn syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATPase copper transporting alpha

ClinVar Annotator: match by term: Cutis laxa, X-linked | ClinVar Annotator: match by term: EDS IX | ClinVar Annotator: match by term: Occipital horn syndrome

PMID:7842019 PMID:8149649 PMID:8981948 PMID:9246006 PMID:10319589 More...

NCBI chr X:67,093,675...67,231,318
Ensembl chr X:77,255,312...77,342,756

plasma cell leukemia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

CD40 molecule

NCBI chr20:42,455,711...42,467,139
Ensembl chr20:43,541,619...43,552,994

G

telomerase reverse transcriptase

Ensembl chr 5:1,300,960...1,338,872

Plasminogen Activator Inhibitor-1 Deficiency

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

adaptor related protein complex 1 subunit sigma 1

ClinVar Annotator: match by term: HYPERFIBRINOLYSIS DUE TO PAI1 DEFICIENCY

NCBI chr 7:93,294,826...93,301,202
Ensembl chr 7:106,536,452...106,543,316

G

monoacylglycerol O-acyltransferase 3

ClinVar Annotator: match by term: HYPERFIBRINOLYSIS DUE TO PAI1 DEFICIENCY

NCBI chr 7:93,337,040...93,342,822
Ensembl chr 7:106,577,727...106,582,799

G

N-acetyltransferase 16 (putative)

ClinVar Annotator: match by term: HYPERFIBRINOLYSIS DUE TO PAI1 DEFICIENCY

NCBI chr 7:93,310,922...93,320,565
Ensembl chr 7:106,554,021...106,556,842

G

procollagen-lysine,2-oxoglutarate 5-dioxygenase 3

ClinVar Annotator: match by term: HYPERFIBRINOLYSIS DUE TO PAI1 DEFICIENCY

NCBI chr 7:93,347,335...93,358,921
Ensembl chr 7:106,587,858...106,599,605

G

serpin family E member 1

ClinVar Annotator: match by term: HYPERFIBRINOLYSIS DUE TO PAI1 DEFICIENCY

PMID:12856128 PMID:15650551 PMID:17656673 PMID:20549826 PMID:21486382 More...

NCBI chr 7:93,267,517...93,279,728
Ensembl chr 7:106,510,130...106,518,450

G

tripartite motif containing 56

ClinVar Annotator: match by term: HYPERFIBRINOLYSIS DUE TO PAI1 DEFICIENCY

NCBI chr 7:93,225,830...93,231,127
Ensembl chr 7:106,469,474...106,471,741

G

VGF nerve growth factor inducible

ClinVar Annotator: match by term: HYPERFIBRINOLYSIS DUE TO PAI1 DEFICIENCY

NCBI chr 7:93,302,956...93,307,892

platelet storage pool deficiency

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

adaptor related protein complex 3 subunit beta 1

OMIM:185050

NCBI chr 5:37,015,518...37,305,769
Ensembl chr 5:37,503,162...37,840,205

G

adaptor related protein complex 3 subunit delta 1

OMIM:185050

NCBI chr19:1,110,419...1,161,826
Ensembl chr19:2,085,540...2,137,593

G

biogenesis of lysosomal organelles complex 1 subunit 5

OMIM:185050

NCBI chr 6:7,852,340...7,902,880
Ensembl chr 6:8,133,721...8,184,194

G

biogenesis of lysosomal organelles complex 1 subunit 6

OMIM:185050

NCBI chr15:24,469,225...24,553,163
Ensembl chr15:42,862,112...42,882,316

G

dedicator of cytokinesis 7

OMIM:185050

NCBI chr 1:61,713,217...61,946,371
Ensembl chr 1:63,529,227...63,740,970

G

dystrobrevin binding protein 1

OMIM:185050

NCBI chr 6:15,377,263...15,523,317
Ensembl chr 6:15,741,698...15,887,256

G

growth factor independent 1B transcriptional repressor

ClinVar Annotator: match by term: Storage pool disease of platelets

NCBI chr 9:104,061,236...104,113,208
Ensembl chr 9:132,692,343...132,742,326

G

HPS1 biogenesis of lysosomal organelles complex 3 subunit 1

OMIM:185050

NCBI chr10:95,030,626...95,061,415
Ensembl chr10:98,526,113...98,552,922

G

HPS3 biogenesis of lysosomal organelles complex 2 subunit 1

OMIM:185050

NCBI chr 3:146,147,140...146,190,793
Ensembl chr 3:153,725,008...153,769,060

G

HPS4 biogenesis of lysosomal organelles complex 3 subunit 2

OMIM:185050

NCBI chr22:7,513,397...7,545,782
Ensembl chr22:25,236,360...25,268,699

G

HPS5 biogenesis of lysosomal organelles complex 2 subunit 2

OMIM:185050

NCBI chr11:18,313,846...18,357,558
Ensembl chr11:17,999,116...18,042,724

G

HPS6 biogenesis of lysosomal organelles complex 2 subunit 3

ClinVar Annotator: match by term: Storage pool disease of platelets

PMID:25741868 PMID:28492532 PMID:31064749

NCBI chr10:98,670,168...98,672,896
Ensembl chr10:102,139,439...102,141,766

G

lysosomal trafficking regulator

OMIM:185050

NCBI chr 1:211,229,800...211,451,947
Ensembl chr 1:216,231,824...216,436,293

G

RAB27A, member RAS oncogene family

OMIM:185050

NCBI chr15:34,174,491...34,263,045
Ensembl chr15:52,498,202...52,529,984

G

RAB27B, member RAS oncogene family

OMIM:185050

NCBI chr18:48,099,912...48,274,416
Ensembl chr18:51,542,842...51,604,061

G

RAB38, member RAS oncogene family

NCBI chr11:83,121,858...83,183,698
Ensembl chr11:86,710,358...86,773,142

G

solute carrier family 7 member 11

OMIM:185050

NCBI chr 4:130,529,677...130,601,396
Ensembl chr 4:141,849,343...141,959,849

platelet-type bleeding disorder 10

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

CD36 molecule (CD36 blood group)

ClinVar Annotator: match by term: Platelet-type bleeding disorder 10

PMID:7533783 PMID:7686693 PMID:8696942 PMID:10890433 PMID:10946357 More...

NCBI chr 7:72,566,478...72,643,517
Ensembl chr 7:86,265,114...86,305,865

G

serpin family E member 1

severity

NCBI chr 7:93,267,517...93,279,728
Ensembl chr 7:106,510,130...106,518,450

platelet-type bleeding disorder 11

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

glycoprotein VI platelet

ClinVar Annotator: match by term: Platelet-type bleeding disorder 11

PMID:19549989 PMID:19552682 PMID:23815599 PMID:25741868 PMID:28492532 More...

NCBI chr19:52,051,138...52,071,673
Ensembl chr19:60,746,578...60,770,643

Platelet-Type Bleeding Disorder 13

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily G member 5

ClinVar Annotator: match by term: Impaired thromboxane A2 agonist-induced platelet aggregation

NCBI chr2A:43,896,188...43,922,756
Ensembl chr2A:44,745,183...44,771,012

G

thromboxane A2 receptor

susceptibility

ClinVar Annotator: match by term: BLEEDING DISORDER, SUSCEPTIBILITY TO, DUE TO DEFECTIVE PLATELET THROMBOXANE A2 RECEPTOR | ClinVar Annotator: match by term: Bleeding disorder, platelet-type, 13, susceptibility to | ClinVar Annotator: match by term: Impaired thromboxane A2 agonist-induced platelet aggregation

PMID:2955539 PMID:7929844 PMID:8428006 PMID:8613548 PMID:19828703 More...

NCBI chr19:2,621,606...2,632,800
Ensembl chr19:3,570,290...3,581,924

platelet-type bleeding disorder 14

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

thromboxane A synthase 1

ClinVar Annotator: match by term: Bleeding disorder, platelet-type, 14

PMID:25741868 PMID:28492532

NCBI chr 7:131,772,947...131,958,647
Ensembl chr 7:144,255,211...144,439,523

platelet-type bleeding disorder 15

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

actinin alpha 1

ClinVar Annotator: match by term: ACTN1-related condition | ClinVar Annotator: match by term: Platelet-type bleeding disorder 15

PMID:9536098 PMID:17576681 PMID:23434115 PMID:24069336 PMID:25361813 More...

NCBI chr14:49,460,390...49,565,986
Ensembl chr14:68,335,694...68,440,836

G

Fli-1 proto-oncogene, ETS transcription factor

ClinVar Annotator: match by term: Bleeding disorder platelet type macrothrombocytopenia

PMID:23809206 PMID:26316623

NCBI chr11:123,506,859...123,626,024
Ensembl chr11:127,409,301...127,530,312

platelet-type bleeding disorder 16

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

integrin subunit alpha 2b

ClinVar Annotator: match by term: Platelet-type bleeding disorder 16

PMID:1638023 PMID:9215749 PMID:9834222 PMID:10607701 PMID:14687991 More...

NCBI chr17:13,009,514...13,027,289
Ensembl chr17:13,176,843...13,193,269

G

integrin subunit beta 3

ClinVar Annotator: match by term: Platelet-type bleeding disorder 16

PMID:1371279 PMID:9351872 PMID:19570064 PMID:19821948 PMID:20106508 More...

NCBI chr17:10,134,450...10,194,596
Ensembl chr17:10,353,111...10,392,382

platelet-type bleeding disorder 17

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

growth factor independent 1B transcriptional repressor

ClinVar Annotator: match by term: Platelet-type bleeding disorder 17

PMID:1065298 PMID:5681484 PMID:20861919 PMID:23927492 PMID:24325358 More...

NCBI chr 9:104,061,236...104,113,208
Ensembl chr 9:132,692,343...132,742,326

platelet-type bleeding disorder 18

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

RAS guanyl releasing protein 2

ClinVar Annotator: match by term: Platelet-type bleeding disorder 18 | ClinVar Annotator: match by term: RASGRP2-related condition

PMID:24958846 PMID:25741868 PMID:27235135 PMID:27663674 PMID:28492532 More...

NCBI chr11:60,081,781...60,101,400
Ensembl chr11:63,423,112...63,440,917

platelet-type bleeding disorder 19

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

protein kinase cAMP-activated catalytic subunit gamma

ClinVar Annotator: match by term: Platelet-type bleeding disorder 19

PMID:25061177 PMID:29941673

NCBI chr 9:55,775,913...55,777,497
Ensembl chr 9:67,778,293...67,779,348

platelet-type bleeding disorder 20

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

schlafen family member 14

ClinVar Annotator: match by term: Platelet-type bleeding disorder 20 | ClinVar Annotator: match by term: SLFN14-related condition

PMID:25741868 PMID:26280575 PMID:26769223 PMID:28492532 PMID:29678925 More...

NCBI chr17:21,232,934...21,250,368
Ensembl chr17:21,530,009...21,539,589

Platelet-Type Bleeding Disorder 21

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

Fli-1 proto-oncogene, ETS transcription factor

ClinVar Annotator: match by term: Bleeding disorder, platelet-type, 21

PMID:23809206 PMID:24100448 PMID:25741868 PMID:26316623 PMID:28255014 More...

NCBI chr11:123,506,859...123,626,024
Ensembl chr11:127,409,301...127,530,312

Platelet-Type Bleeding Disorder 22

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

EPH receptor B2

susceptibility

ClinVar Annotator: match by term: Bleeding disorder, platelet-type, 22

NCBI chr 1:21,895,961...22,107,649
Ensembl chr 1:22,912,570...23,047,118

Platelet-Type Bleeding Disorder 24

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

integrin subunit beta 3

ClinVar Annotator: match by term: Bleeding disorder, platelet-type, 24

PMID:15583747 PMID:18065693 PMID:19336737 PMID:20081061 PMID:20804530 More...

NCBI chr17:10,134,450...10,194,596
Ensembl chr17:10,353,111...10,392,382

Platelet-Type Bleeding Disorder 25

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

tropomyosin 4

ClinVar Annotator: match by term: Bleeding disorder, platelet-type, 25

PMID:28134622 PMID:34758189 PMID:35170221

NCBI chr19:15,557,683...15,593,143
Ensembl chr19:16,540,805...16,575,312

platelet-type bleeding disorder 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

glycoprotein Ib platelet subunit alpha

ClinVar Annotator: match by term: BLEEDING DISORDER, PLATELET-TYPE, 3 | ClinVar Annotator: match by term: Platelet-type von Willebrand disease | ClinVar Annotator: match by term: Pseudo von Willebrand disease

PMID:2052556 PMID:8384898 PMID:8486780 PMID:12038791 PMID:18492106 More...

NCBI chr17:4,980,083...4,983,219

platelet-type bleeding disorder 8

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

mediator complex subunit 12L

ClinVar Annotator: match by term: Impaired ADP-induced platelet aggregation | ClinVar Annotator: match by term: Platelet-type bleeding disorder 8

PMID:7706468 PMID:11196645 PMID:12578987 PMID:20966167 PMID:25741868 More...

NCBI chr 3:148,115,501...148,463,846
Ensembl chr 3:155,686,214...156,031,094

G

purinergic receptor P2Y12

ClinVar Annotator: match by term: Impaired ADP-induced platelet aggregation | ClinVar Annotator: match by term: Platelet-type bleeding disorder 8

PMID:7706468 PMID:11196645 PMID:12578987 PMID:20966167 PMID:25741868 More...

NCBI chr 3:148,364,151...148,412,231

platelet-type bleeding disorder 9

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

integrin subunit alpha 2

ClinVar Annotator: match by term: COLLAGEN PLATELET RECEPTOR DEFICIENCY | ClinVar Annotator: match by term: Platelet-type bleeding disorder 9

PMID:19500323 PMID:22862885 PMID:23368983 PMID:25741868 PMID:28492532

NCBI chr 5:60,935,452...61,040,726
Ensembl chr 5:62,555,370...62,659,720

G

molybdenum cofactor synthesis 2

ClinVar Annotator: match by term: COLLAGEN PLATELET RECEPTOR DEFICIENCY | ClinVar Annotator: match by term: Platelet-type bleeding disorder 9

NCBI chr 5:60,920,268...60,931,990
Ensembl chr 5:62,539,214...62,550,921

Polymicrogyria with or without Vascular-Type Ehlers-Danlos Syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

collagen type III alpha 1 chain

ClinVar Annotator: match by term: Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome | ClinVar Annotator: match by term: Polymicrogyria with or without vascular-type ehlers-danlos syndrome

PMID:2049575 PMID:2235526 PMID:7695699 PMID:8218237 PMID:9050868 More...

NCBI chr2B:76,285,115...76,322,703
Ensembl chr2B:194,204,613...194,242,956

Posttransfusion Purpura

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

integrin subunit beta 3

ClinVar Annotator: match by term: PEN(a)/PEN(b) ALLOANTIGEN POLYMORPHISM

PMID:1430225 PMID:9787162 PMID:14516468 PMID:21658138 PMID:25741868 More...

NCBI chr17:10,134,450...10,194,596
Ensembl chr17:10,353,111...10,392,382

prothrombin deficiency

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

coagulation factor II, thrombin

ClinVar Annotator: match by term: Congenital factor II deficiency | ClinVar Annotator: match by term: Factor II deficiency

PMID:2222810 PMID:2429850 PMID:2825773 PMID:6305407 PMID:6405779 More...

NCBI chr11:46,669,925...46,690,391
Ensembl chr11:47,227,891...47,249,157

G

coagulation factor VII

protein:decreased expression:plasma (rat)

NCBI chr13:94,246,694...94,261,133
Ensembl chr13:113,315,868...113,329,995

pseudoxanthoma elasticum

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily C member 1 (ABCC1 blood group)

ClinVar Annotator: match by term: Gronblad Strandberg syndrome

PMID:11439001 PMID:16541094

G

ATP binding cassette subfamily C member 2

ClinVar Annotator: match by term: Gronblad Strandberg syndrome

PMID:9878557 PMID:15870973 PMID:25741868 PMID:28492532 PMID:29499989

NCBI chr10:96,385,534...96,458,571
Ensembl chr10:99,889,160...99,947,270

G

catalase

onset

DNA:polymorphism:promoter:c.-262C>T(rs1001179)(human)

NCBI chr11:34,413,253...34,446,831
Ensembl chr11:34,289,603...34,323,160

G

centrosomal protein 20

ClinVar Annotator: match by term: Gronblad Strandberg syndrome

PMID:11439001 PMID:16541094

G

elastin

PMID:1936214 PMID:7524808

RGD:9585748 RGD:9585763

G

glutathione peroxidase 1

onset

DNA:polymorphism:cds:c.593C>T (rs1050450)

NCBI chr 3:49,280,038...49,281,455
Ensembl chr 3:50,360,947...50,361,826

G

matrix metallopeptidase 2

DNA:SNPs, haplotype:promoter:multiple

NCBI chr16:35,711,866...35,738,881
Ensembl chr16:54,812,694...54,844,279

G

myosin heavy chain 11

ClinVar Annotator: match by term: Gronblad Strandberg syndrome

PMID:11439001 PMID:16541094

Ensembl chr16:16,007,168...16,091,058

G

nudE neurodevelopment protein 1

ClinVar Annotator: match by term: Gronblad Strandberg syndrome

Ensembl chr16:15,948,881...16,027,986

G

superoxide dismutase 2

onset

DNA:polymorphism:cds:c.47C>T(rs4880)(human)

NCBI chr 6:157,562,814...157,610,155
Ensembl chr 6:162,576,082...162,589,960

G

vascular endothelial growth factor A

susceptibility

DNA:haplotype: :

NCBI chr 6:43,361,053...43,377,366
Ensembl chr 6:44,650,365...44,666,353

G

xylosyltransferase 1

ClinVar Annotator: match by term: Gronblad Strandberg syndrome | ClinVar Annotator: match by term: Pseudoxanthoma elasticum, modifier of severity of

PMID:16571645 PMID:24581741 PMID:25741868 PMID:28085539 PMID:28492532

NCBI chr16:20,078,904...20,447,268
Ensembl chr16:17,222,447...17,470,818

G

xylosyltransferase 2

ClinVar Annotator: match by term: Gronblad Strandberg syndrome | ClinVar Annotator: match by term: Pseudoxanthoma elasticum, modifier of severity of

PMID:16571645 PMID:25741868 PMID:28492532

NCBI chr17:44,440,428...44,455,530
Ensembl chr17:49,315,250...49,331,654

Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation Factor Deficiency

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

gamma-glutamyl carboxylase

ClinVar Annotator: match by term: Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency

PMID:9536098 PMID:9615107 PMID:17110937 PMID:17576681 PMID:18800149 More...

NCBI chr2A:85,599,227...85,612,274
Ensembl chr2A:87,152,111...87,164,567

purpura

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

interleukin 13

susceptibility

associated withe Sjogren's Syndrome;DNA:SNP:cds:2044 G>A(human)

NCBI chr 5:128,073,863...128,078,453
Ensembl chr 5:134,235,788...134,240,548

purpura fulminans

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

protein C, inactivator of coagulation factors Va and VIIIa

CTD Direct Evidence: marker/mechanism

NCBI chr2B:32,846,899...32,859,060
Ensembl chr2B:128,083,794...128,094,625

Quebec platelet disorder

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

plasminogen activator, urokinase

ClinVar Annotator: match by term: Quebec platelet disorder

PMID:12689937 PMID:18988861 PMID:20007542 PMID:22102275 PMID:25741868 More...

NCBI chr10:70,433,340...70,441,569
Ensembl chr10:73,105,895...73,113,136

Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

homeobox A11

ClinVar Annotator: match by term: THROMBOCYTOPENIA, CONGENITAL, WITH RADIOULNAR SYNOSTOSIS

NCBI chr 7:27,826,003...27,829,757
Ensembl chr 7:27,424,759...27,429,103

Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

homeobox A11

ClinVar Annotator: match by term: Radioulnar synostosis with amegakaryocytic thrombocytopenia 1

PMID:11101832 PMID:25741868

NCBI chr 7:27,826,003...27,829,757
Ensembl chr 7:27,424,759...27,429,103

Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

caveolin 1

ClinVar Annotator: match by term: Radioulnar synostosis with amegakaryocytic thrombocytopenia 2

PMID:25741868 PMID:38177409

NCBI chr 7:108,497,125...108,533,090
Ensembl chr 7:121,193,424...121,229,655

G

MDS1 and EVI1 complex locus

ClinVar Annotator: match by term: MECOM-related condition | ClinVar Annotator: match by term: Radioulnar synostosis with amegakaryocytic thrombocytopenia 2

PMID:9536098 PMID:17576681 PMID:20091385 PMID:25741868 PMID:26581901 More...

NCBI chr 3:166,099,530...166,677,739
Ensembl chr 3:174,154,814...174,731,252

Shwartzman phenomenon

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

interleukin 10

NCBI chr 1:182,369,234...182,374,207
Ensembl chr 1:186,648,289...186,653,371

G

interleukin 6

treatment

NCBI chr 7:23,415,922...23,420,767

Stormorken syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

post-GPI attachment to proteins 2

ClinVar Annotator: match by term: Stormorken syndrome

NCBI chr11:3,669,523...3,697,565
Ensembl chr11:3,782,786...3,810,678

G

ras homolog family member G

ClinVar Annotator: match by term: Stormorken syndrome

NCBI chr11:3,698,179...3,712,402
Ensembl chr11:3,811,877...3,812,452

G

stromal interaction molecule 1

ClinVar Annotator: match by term: Stormorken syndrome | ClinVar Annotator: match by term: THROMBOCYTOPATHY, ASPLENIA, AND MIOSIS

PMID:4085141 PMID:9536098 PMID:12623447 PMID:12745453 PMID:12944247 More...

NCBI chr11:3,726,501...3,954,951
Ensembl chr11:3,840,513...4,065,224

Supraumbilical Midabdominal Raphe and Facial Cavernous Hemangiomas

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

microtubule actin crosslinking factor 1

ClinVar Annotator: match by term: Facial hemangioma

NCBI chr 1:38,369,021...38,771,911
Ensembl chr 1:39,820,394...40,096,558

Takenouchi-Kosaki Syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cell division cycle 42

ClinVar Annotator: match by term: Takenouchi-Kosaki syndrome

PMID:25741868 PMID:26386261 PMID:26708094 PMID:26795593 PMID:27513193 More...

NCBI chr 1:21,245,970...21,286,210

Thrombocythemia 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

MPL proto-oncogene, thrombopoietin receptor

ClinVar Annotator: match by term: Thrombocythemia 2 | ClinVar Annotator: match by term: Thrombocythemia 2, somatic

PMID:8073287 PMID:11133753 PMID:14764528 PMID:15269348 PMID:16199547 More...

NCBI chr 1:42,639,191...42,654,738
Ensembl chr 1:44,018,395...44,034,492

Thrombocythemia 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

insulin like 6

ClinVar Annotator: match by term: THROMBOCYTOSIS 3 | ClinVar Annotator: match by term: Thrombocythemia 3

PMID:15781101 PMID:15793561 PMID:15837627 PMID:15858187 PMID:15920007 More...

NCBI chr 9:5,007,158...5,029,056
Ensembl chr 9:5,192,023...5,213,827

G

Janus kinase 2

ClinVar Annotator: match by term: THROMBOCYTOSIS 3 | ClinVar Annotator: match by term: Thrombocythemia 3

PMID:15781101 PMID:15793561 PMID:15837627 PMID:15858187 PMID:15920007 More...

NCBI chr 9:4,820,303...4,971,867
Ensembl chr 9:5,006,271...5,156,626

thrombocytopenia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily G member 5

ClinVar Annotator: match by term: Thrombocytopenia

PMID:25741868 PMID:28492532 PMID:31064749 PMID:32088153

NCBI chr2A:43,896,188...43,922,756
Ensembl chr2A:44,745,183...44,771,012

G

ATP binding cassette subfamily G member 8

ClinVar Annotator: match by term: Thrombocytopenia

PMID:25741868 PMID:28492532 PMID:32935436

NCBI chr2A:43,922,787...43,966,678
Ensembl chr2A:44,771,247...44,904,830

G

acyl-CoA binding domain containing 5

ClinVar Annotator: match by term: Thrombocytopenia

PMID:25741868 PMID:28492532

NCBI chr10:27,292,094...27,351,332
Ensembl chr10:27,666,395...27,711,423

G

actin beta

ClinVar Annotator: match by term: Thrombocytopenia

PMID:10411937 PMID:25255767 PMID:25741868 PMID:30315159

G

actinin alpha 1

ClinVar Annotator: match by term: Thrombocytopenia

PMID:23434115 PMID:24069336 PMID:25361813 PMID:25741868 PMID:28492532 More...

NCBI chr14:49,460,390...49,565,986
Ensembl chr14:68,335,694...68,440,836

G

activin A receptor like type 1

ClinVar Annotator: match by term: Thrombocytopenia

PMID:20501893 PMID:24033266 PMID:25741868 PMID:28492532

NCBI chr12:36,839,869...36,856,351
Ensembl chr12:37,615,888...37,631,691

G

albumin

CTD Direct Evidence: marker/mechanism

NCBI chr 4:50,773,244...50,790,474
Ensembl chr 4:56,605,322...56,622,418

G

ankyrin repeat domain containing 26

ClinVar Annotator: match by term: Thrombocytopenia

PMID:10521306 PMID:20626622 PMID:21211618 PMID:21467542 PMID:22672365 More...

NCBI chr10:27,111,909...27,210,001
Ensembl chr10:27,478,452...27,572,261

G

adaptor related protein complex 3 subunit beta 1

ClinVar Annotator: match by term: Thrombocytopenia

PMID:25741868 PMID:28492532 PMID:32935436

NCBI chr 5:37,015,518...37,305,769
Ensembl chr 5:37,503,162...37,840,205

G

asparaginase

CTD Direct Evidence: marker/mechanism

NCBI chr14:84,711,400...84,739,769
Ensembl chr14:104,517,278...104,544,589

G

BRCA1 interacting helicase 1

human gene in a mouse model

NCBI chr17:55,786,568...55,973,366
Ensembl chr17:60,901,073...61,083,462

G

carbonyl reductase 1

ClinVar Annotator: match by term: Thrombocytopenia

NCBI chr21:22,440,726...22,443,950
Ensembl chr21:35,800,177...35,803,458

G

C-C motif chemokine ligand 2

associated with Lupus Erythematosus, Systemic;DNA:snp:promoter:g.-2518A>G (human)

NCBI chr17:22,528,154...22,530,091
Ensembl chr17:22,820,890...22,823,384

G

CD40 ligand

treatment

associated with Malaria

NCBI chr X:125,776,138...125,788,820
Ensembl chr X:136,042,849...136,058,202

G

checkpoint kinase 2

ClinVar Annotator: match by term: Thrombocytopenia

PMID:10617473 PMID:11053450 PMID:11479205 PMID:11719428 PMID:11967536 More...

NCBI chr22:9,757,038...9,811,171

G

chloride intracellular channel 6

ClinVar Annotator: match by term: Thrombocytopenia

NCBI chr21:21,041,763...21,089,958

G

collagen type V alpha 2 chain

ClinVar Annotator: match by term: Thrombocytopenia

PMID:25741868 PMID:28492532

NCBI chr2B:76,339,756...76,487,133
Ensembl chr2B:194,259,316...194,407,237

G

colony stimulating factor 2

CTD Direct Evidence: marker/mechanism

NCBI chr 5:127,496,951...127,499,325
Ensembl chr 5:133,660,775...133,663,146

G

colony stimulating factor 3

CTD Direct Evidence: marker/mechanism

PMID:7543699 PMID:12085204

NCBI chr17:17,271,074...17,273,493
Ensembl chr17:17,491,276...17,493,729

G

dynein cytoplasmic 2 light intermediate chain 1

ClinVar Annotator: match by term: Thrombocytopenia

PMID:25741868 PMID:28492532 PMID:31064749 PMID:32088153

NCBI chr2A:43,858,368...43,912,262
Ensembl chr2A:44,706,777...44,742,724

G

erythropoietin

CTD Direct Evidence: therapeutic

NCBI chr 7:92,747,671...92,750,886
Ensembl chr 7:106,148,062...106,150,974

G

ETS variant transcription factor 6

ClinVar Annotator: match by term: Thrombocytopenia

PMID:25581430 PMID:25741868 PMID:26522332 PMID:27365488 PMID:28492532 More...

NCBI chr12:11,675,955...11,920,913
Ensembl chr12:11,844,939...12,179,537

G

coagulation factor X

ClinVar Annotator: match by term: Thrombocytopenia

NCBI chr13:94,263,202...94,289,612
Ensembl chr13:113,332,124...113,358,660

G

coagulation factor XI

ClinVar Annotator: match by term: Thrombocytopenia

PMID:2052060 PMID:2813350 PMID:9326232 PMID:10593931 PMID:15026311 More...

NCBI chr 4:178,436,865...178,459,568
Ensembl chr 4:190,643,733...190,666,512

G

coagulation factor V

ClinVar Annotator: match by term: Thrombocytopenia

PMID:25741868 PMID:28492532 PMID:34355501

NCBI chr 1:144,996,757...145,070,046
Ensembl chr 1:148,718,897...148,790,915

G

coagulation factor VII

treatment

human protein in a rat model

NCBI chr13:94,246,694...94,261,133
Ensembl chr13:113,315,868...113,329,995

G

fibrinogen alpha chain

treatment

ClinVar Annotator: match by term: Thrombocytopenia

PMID:2005585 PMID:25741868 PMID:28492532

NCBI chr 4:146,949,680...146,957,291

G

fibrinogen beta chain

ClinVar Annotator: match by term: Thrombocytopenia

PMID:10688828 PMID:19420351 PMID:20978265 PMID:24033266 PMID:25741868 More...

NCBI chr 4:146,929,561...146,937,665
Ensembl chr 4:158,747,659...158,755,766

G

fibrinogen gamma chain

ClinVar Annotator: match by term: Thrombocytopenia

PMID:10688828 PMID:15795540 PMID:17938819 PMID:19300242 PMID:21228398 More...

NCBI chr 4:146,970,671...146,979,348
Ensembl chr 4:158,788,966...158,797,237

G

Fli-1 proto-oncogene, ETS transcription factor

ClinVar Annotator: match by term: Thrombocytopenia

PMID:24100448 PMID:32581362

NCBI chr11:123,506,859...123,626,024
Ensembl chr11:127,409,301...127,530,312

G

filamin A

ClinVar Annotator: match by term: Thrombocytopenia

PMID:18414213 PMID:21836662 PMID:25741868 PMID:26467025 PMID:28492532 More...

NCBI chr X:143,799,088...143,825,282

G

GATA binding protein 1

ClinVar Annotator: match by term: Thrombocytopenia

PMID:11418466 PMID:20301538 PMID:23278136 PMID:25741868 PMID:31064749 More...

NCBI chr X:41,088,724...41,092,190
Ensembl chr X:48,945,394...48,953,126

G

glucosylceramidase beta 1

ClinVar Annotator: match by term: Thrombocytopenia

PMID:1348297 PMID:1897529 PMID:1899336 PMID:1971142 PMID:2117855 More...

NCBI chr 1:130,579,300...130,589,560
Ensembl chr 1:134,185,385...134,194,851

G

growth factor independent 1B transcriptional repressor

ClinVar Annotator: match by term: Thrombocytopenia

PMID:25741868 PMID:31064749

NCBI chr 9:104,061,236...104,113,208
Ensembl chr 9:132,692,343...132,742,326

G

gamma-glutamyl carboxylase

ClinVar Annotator: match by term: Thrombocytopenia

PMID:25741868 PMID:28492532 PMID:32935436

NCBI chr2A:85,599,227...85,612,274
Ensembl chr2A:87,152,111...87,164,567

G

glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase

ClinVar Annotator: match by term: Thrombocytopenia

PMID:24796702 PMID:25741868 PMID:26980148 PMID:28320138 PMID:28492532 More...

NCBI chr 9:36,064,128...36,107,822
Ensembl chr 9:36,867,096...36,926,588

G

glycoprotein Ib platelet subunit alpha

ClinVar Annotator: match by term: Thrombocytopenia

PMID:8384898 PMID:25741868 PMID:29082515 PMID:31064749 PMID:34355501

NCBI chr17:4,980,083...4,983,219

G

glycoprotein Ib platelet subunit beta

ClinVar Annotator: match by term: Thrombocytopenia

PMID:10887115 PMID:25741868 PMID:31064749 PMID:32581362 PMID:34355501

NCBI chr22:2,485,350...2,486,688

G

glycoprotein IX platelet

ClinVar Annotator: match by term: Thrombocytopenia

PMID:8049428 PMID:8481514 PMID:14510954 PMID:25370924 PMID:25741868 More...

NCBI chr 3:126,118,762...126,122,732
Ensembl chr 3:133,480,173...133,480,706

G

interferon lambda 3

treatment

associated with Hepatitis C, Chronic;DNA:SNP: :rs8099917(human)

NCBI chr19:36,341,396...36,343,261

G

interleukin 10

severity

associated with Malaria, Vivax

PMID:11091188 PMID:25128199

RGD:11041893 RGD:11049172

NCBI chr 1:182,369,234...182,374,207
Ensembl chr 1:186,648,289...186,653,371

G

interleukin 1 beta

treatment

NCBI chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424

G

interleukin 3

CTD Direct Evidence: therapeutic

NCBI chr 5:127,483,843...127,486,388
Ensembl chr 5:133,647,667...133,650,213

G

interleukin 6

severity

associated with Malaria, Vivax

NCBI chr 7:23,415,922...23,420,767

G

integrin subunit alpha 2

associated with Hantavirus Infections;DNA:SNP: :807C>T (rs1126643) (human)

NCBI chr 5:60,935,452...61,040,726
Ensembl chr 5:62,555,370...62,659,720

G

integrin subunit alpha 2b

ClinVar Annotator: match by term: Thrombocytopenia

PMID:1638023 PMID:9215749 PMID:9834222 PMID:18065693 PMID:19805198 More...

NCBI chr17:13,009,514...13,027,289
Ensembl chr17:13,176,843...13,193,269

G

integrin subunit beta 3

ClinVar Annotator: match by term: Thrombocytopenia

PMID:25741868 PMID:28492532 PMID:31064749 PMID:32581362

NCBI chr17:10,134,450...10,194,596
Ensembl chr17:10,353,111...10,392,382

G

inosine triphosphatase

treatment

CTD Direct Evidence: marker/mechanism
associated with Hepatitis C;DNA:missense mutation, splice-site mutaion:exon, intron:p.P32T (rs1127354), rs7270101 (human)

PMID:18662289 PMID:24519039

NCBI chr20:3,295,075...3,309,546
Ensembl chr20:3,056,395...3,070,924

G

potassium voltage-gated channel subfamily E regulatory subunit 1

ClinVar Annotator: match by term: Thrombocytopenia

NCBI chr21:20,818,395...20,884,053
Ensembl chr21:34,190,043...34,190,441

G

potassium voltage-gated channel subfamily E regulatory subunit 2

ClinVar Annotator: match by term: Thrombocytopenia

G

interferon alpha-2

CTD Direct Evidence: marker/mechanism

PMID:8886046 PMID:10520005 PMID:12620292 PMID:15274073

NCBI chr 9:21,245,017...21,246,210
Ensembl chr 9:21,863,062...21,863,736

G

cytochrome c

no_association

ClinVar Annotator: match by term: Thrombocytopenia

PMID:18345000 PMID:19172527 PMID:22102269 PMID:24326104 PMID:25741868 More...

NCBI chr 7:25,784,900...25,791,598
Ensembl chr 7:25,396,013...25,398,549

G

low affinity immunoglobulin gamma Fc region receptor II-a

CTD Direct Evidence: marker/mechanism

PMID:10201963 PMID:11588041

NCBI chr 1:136,892,311...136,906,450

G

microtubule associated serine/threonine kinase like

ClinVar Annotator: match by term: Thrombocytopenia

PMID:25741868 PMID:28492532

NCBI chr10:27,264,475...27,296,085
Ensembl chr10:27,626,892...27,658,180

G

mannose binding lectin 2

susceptibility

associated with Dengue;DNA:SNP:exon:

NCBI chr10:49,401,364...49,409,328
Ensembl chr10:51,527,758...51,543,432

G

multiple coagulation factor deficiency 2, ER cargo receptor complex subunit

ClinVar Annotator: match by term: Thrombocytopenia

NCBI chr2A:47,012,550...47,031,725
Ensembl chr2A:47,950,679...47,987,407

G

MDS1 and EVI1 complex locus

ClinVar Annotator: match by term: Thrombocytopenia

NCBI chr 3:166,099,530...166,677,739
Ensembl chr 3:174,154,814...174,731,252

G

MPL proto-oncogene, thrombopoietin receptor

ameliorates

associated with End Stage Liver Disease
ClinVar Annotator: match by term: Thrombocytopenia

PMID:971406 PMID:8073287 PMID:10971406 PMID:11133753 PMID:11972523 More...

NCBI chr 1:42,639,191...42,654,738
Ensembl chr 1:44,018,395...44,034,492

G

mitochondrial ribosomal protein S6

ClinVar Annotator: match by term: Thrombocytopenia

NCBI chr21:20,441,365...20,510,800
Ensembl chr21:33,862,033...33,879,670

G

methylenetetrahydrofolate reductase

no_association

CTD Direct Evidence: marker/mechanism
associated with Precursor Cell Lymphoblastic Leukemia-Lymphoma;DNA:SNP: :677C>T, 1793G>A (human)
associated with Precursor Cell Lymphoblastic Leukemia-Lymphoma;DNA:SNP: :1298A>C (human)

PMID:19391036 PMID:23498762

NCBI chr 1:10,548,196...10,568,174
Ensembl chr 1:11,766,334...11,785,419

G

myosin heavy chain 9

ClinVar Annotator: match by term: Thrombocytopenia

PMID:1449176 PMID:10973259 PMID:11159552 PMID:11590545 PMID:11776386 More...

NCBI chr22:17,200,623...17,305,826
Ensembl chr22:35,039,101...35,121,618

G

nuclear receptor binding SET domain protein 2

ClinVar Annotator: match by term: Thrombocytopenia

NCBI chr 4:2,009,276...2,119,182
Ensembl chr 4:1,945,307...2,027,425

G

purinergic receptor P2Y12

associated with Thrombosis

NCBI chr 3:148,364,151...148,412,231

G

platelet and endothelial cell adhesion molecule 1

CTD Direct Evidence: marker/mechanism

NCBI chr17:58,417,134...58,526,409
Ensembl chr17:63,511,784...63,579,067

G

platelet factor 4

CTD Direct Evidence: marker/mechanism

PMID:8282825 PMID:9158107 PMID:9446652 PMID:10381515 PMID:11588041 More...

NCBI chr 4:50,208,806...50,210,570
Ensembl chr 4:56,041,833...56,043,750

G

phospholipase C beta 2

ClinVar Annotator: match by term: Thrombocytopenia

NCBI chr15:19,218,329...19,241,977
Ensembl chr15:37,476,699...37,496,813

G

polyribonucleotide nucleotidyltransferase 1

ClinVar Annotator: match by term: Thrombocytopenia

PMID:25741868 PMID:29987015 PMID:33158637

NCBI chr2A:55,792,412...55,848,242
Ensembl chr2A:56,931,365...56,986,326

G

protein tyrosine phosphatase non-receptor type 11

ClinVar Annotator: match by term: Thrombocytopenia

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

NCBI chr12:110,016,364...110,107,462
Ensembl chr12:113,435,669...113,503,762

G

regulator of calcineurin 1

ClinVar Annotator: match by term: Thrombocytopenia

NCBI chr21:20,889,123...20,987,964
Ensembl chr21:34,258,355...34,267,025

G

septin 5

ClinVar Annotator: match by term: Thrombocytopenia

PMID:10887115 PMID:25741868 PMID:31064749 PMID:32581362 PMID:34355501

NCBI chr22:2,476,400...2,485,225
Ensembl chr22:18,150,865...18,159,697

G

SET domain containing 4

ClinVar Annotator: match by term: Thrombocytopenia

NCBI chr21:22,376,892...22,431,610
Ensembl chr21:35,737,061...35,791,156

G

solute carrier family 4 member 1 (Diego blood group)

mRNA:decreased expression:erythrocyte (mouse)

NCBI chr17:13,131,851...13,150,872
Ensembl chr17:13,302,796...13,317,312

G

solute carrier family 5 member 3

ClinVar Annotator: match by term: Thrombocytopenia

NCBI chr21:20,441,434...20,474,101
Ensembl chr21:33,831,917...33,834,073

G

small integral membrane protein 11

ClinVar Annotator: match by term: Thrombocytopenia

NCBI chr21:20,742,420...20,771,205

G

secreted protein acidic and cysteine rich

CTD Direct Evidence: marker/mechanism

NCBI chr 5:147,087,903...147,112,466
Ensembl chr 5:153,090,181...153,115,750

G

thromboxane A2 receptor

NCBI chr19:2,621,606...2,632,800
Ensembl chr19:3,570,290...3,581,924

G

transforming growth factor beta 1

protein:decreased expression:plasma:

NCBI chr19:38,324,009...38,347,003
Ensembl chr19:46,831,659...46,852,973

G

thrombomodulin

ClinVar Annotator: match by term: Thrombocytopenia

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

NCBI chr20:22,992,341...22,996,415
Ensembl chr20:23,345,917...23,347,812

G

thrombopoietin

ClinVar Annotator: match by term: Thrombocytopenia

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

NCBI chr 3:181,409,038...181,416,986
Ensembl chr 3:189,891,025...189,897,429

G

tumor necrosis factor

severity

associated with Malaria, Vivax
associated with Hemorrhagic Fever with Renal Syndrome;DNA:SNP:promoter:-238G>A (human)

PMID:16987073 PMID:25128199

RGD:10449459 RGD:11041893

NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381

G

TNF receptor superfamily member 10a

CTD Direct Evidence: marker/mechanism

NCBI chr 8:22,440,502...22,476,790
Ensembl chr 8:19,378,547...19,414,724

G

tubulin beta 1 class VI

ClinVar Annotator: match by term: Thrombocytopenia

PMID:24777453 PMID:25741868 PMID:27346686 PMID:28054583 PMID:28492532 More...

NCBI chr20:55,370,122...55,377,616
Ensembl chr20:56,730,882...56,738,741

G

VPS33B late endosome and lysosome associated

ClinVar Annotator: match by term: Thrombocytopenia

PMID:25741868 PMID:28492532

NCBI chr15:69,691,717...69,715,617
Ensembl chr15:88,888,093...88,912,327

G

von Willebrand factor

ClinVar Annotator: match by term: Thrombocytopenia

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

NCBI chr12:6,073,836...6,249,806
Ensembl chr12:5,990,612...6,165,153

G

WASP actin nucleation promoting factor

ClinVar Annotator: match by term: Thrombocytopenia

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

NCBI chr X:40,982,132...40,989,767
Ensembl chr X:48,842,765...48,850,380

G

WD repeat domain 1

CTD Direct Evidence: marker/mechanism

NCBI chr 4:4,487,054...4,516,732
Ensembl chr 4:9,805,164...9,848,032

G

xanthine dehydrogenase

ClinVar Annotator: match by term: Thrombocytopenia

PMID:25741868 PMID:28492532 PMID:30755392

NCBI chr2A:31,356,011...31,435,111
Ensembl chr2A:31,425,183...31,504,455

Thrombocytopenia 1

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

GATA binding protein 1

associated with Beta-Thalassemia;DNA:missense mutation: :p.R216Q (human)

NCBI chr X:41,088,724...41,092,190
Ensembl chr X:48,945,394...48,953,126

G

WASP actin nucleation promoting factor

ClinVar Annotator: match by term: THROMBOCYTOPENIA, X-LINKED, 1 | ClinVar Annotator: match by term: Thrombocytopenia 1 | ClinVar Annotator: match by term: Thrombocytopenia, X-linked

PMID:3284030 PMID:7579329 PMID:7753869 PMID:7795648 PMID:8528198 More...

NCBI chr X:40,982,132...40,989,767
Ensembl chr X:48,842,765...48,850,380

Thrombocytopenia 10

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

protein tyrosine phosphatase receptor type J

ClinVar Annotator: match by term: Thrombocytopenia 10

NCBI chr11:47,941,134...48,130,538
Ensembl chr11:48,613,761...48,670,494

Thrombocytopenia 11

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

RAP1B, member of RAS oncogene family

ClinVar Annotator: match by term: Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies

PMID:12213964 PMID:25741868 PMID:25935485 PMID:29235861 PMID:32627184 More...

NCBI chr12:66,122,212...66,172,450
Ensembl chr12:68,942,053...68,955,649

Thrombocytopenia 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

acyl-CoA binding domain containing 5

ClinVar Annotator: match by term: Thrombocytopenia 2

PMID:25741868 PMID:28492532

NCBI chr10:27,292,094...27,351,332
Ensembl chr10:27,666,395...27,711,423

G

ankyrin repeat domain containing 26

ClinVar Annotator: match by term: ANKRD26-related condition | ClinVar Annotator: match by term: Thrombocytopenia 2

PMID:10521306 PMID:17666371 PMID:20626622 PMID:21211618 PMID:21467542 More...

NCBI chr10:27,111,909...27,210,001
Ensembl chr10:27,478,452...27,572,261

G

microtubule associated serine/threonine kinase like

ClinVar Annotator: match by term: Thrombocytopenia 2

PMID:10891439 PMID:12890928 PMID:19460416 PMID:22102272 PMID:25741868 More...

NCBI chr10:27,264,475...27,296,085
Ensembl chr10:27,626,892...27,658,180

Thrombocytopenia 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

FYN binding protein 1

ClinVar Annotator: match by term: Thrombocytopenia 3

PMID:25741868 PMID:25876182

NCBI chr 5:71,100,184...71,268,471

Thrombocytopenia 4

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cytochrome c

ClinVar Annotator: match by term: Thrombocytopenia 4

PMID:18345000 PMID:22102269 PMID:24326104 PMID:25741868 PMID:28492532 More...

NCBI chr 7:25,784,900...25,791,598
Ensembl chr 7:25,396,013...25,398,549

Thrombocytopenia 5

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ETS variant transcription factor 6

ClinVar Annotator: match by term: Thrombocytopenia 5

PMID:9694803 PMID:15806161 PMID:17988997 PMID:18305557 PMID:21680795 More...

NCBI chr12:11,675,955...11,920,913
Ensembl chr12:11,844,939...12,179,537

Thrombocytopenia 6

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

SRC proto-oncogene, non-receptor tyrosine kinase

ClinVar Annotator: match by term: Thrombocytopenia 6

PMID:25741868 PMID:26936507 PMID:32581362

NCBI chr20:33,667,614...33,727,126
Ensembl chr20:34,822,271...34,839,634

Thrombocytopenia 7

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

alanine--glyoxylate aminotransferase

Hyperoxaluria, primary, type I (Oxalosis I)

PMID:1672096 PMID:2394849 PMID:22486513

NCBI chr2B:128,125,289...128,137,091
Ensembl chr2B:246,928,784...246,939,837

G

IKAROS family zinc finger 5

ClinVar Annotator: match by term: Thrombocytopenia 7

PMID:25741868 PMID:31217188 PMID:32419556

NCBI chr10:119,547,766...119,565,804
Ensembl chr10:123,821,461...123,839,499

Thrombocytopenia 8

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

actin beta

ClinVar Annotator: match by term: Thrombocytopenia 8, with dysmorphic features and developmental delay

PMID:10411937 PMID:25255767 PMID:28492532 PMID:30315159 PMID:30733661 More...

Thrombocytopenia 9

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

thrombopoietin

ClinVar Annotator: match by term: Thrombocytopenia 9

PMID:25741868 PMID:28466964 PMID:28492532 PMID:28559357 PMID:31064749 More...

NCBI chr 3:181,409,038...181,416,986
Ensembl chr 3:189,891,025...189,897,429

thrombocytopenia due to platelet alloimmunization

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

Fc gamma receptor IIIa

treatment

DNA:SNP:cds:

NCBI chr 1:137,027,943...137,036,738

G

suppressor of cytokine signaling 1

ClinVar Annotator: match by term: IMMUNE THROMBOCYTOPENIA

NCBI chr16:10,196,432...10,198,205

Thrombocytopenia, Anemia, and Myelofibrosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

megakaryocyte and platelet inhibitory receptor G6b

ClinVar Annotator: match by term: Thrombocytopenia, anemia, and myelofibrosis

PMID:25741868 PMID:25741905 PMID:27743390

NCBI chr 6:31,384,220...31,388,071
Ensembl chr 6:32,273,438...32,276,772

thrombocytopenia-absent radius syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

acid phosphatase 6, lysophosphatidic

ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome

NCBI chr 1:123,070,751...123,114,327
Ensembl chr 1:112,417,138...112,459,176

G

ankyrin repeat domain 34A

ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome

PMID:17236129 PMID:22366785 PMID:22581968 PMID:24220582 PMID:26233629 More...

NCBI chr 1:121,793,315...121,798,456

G

ankyrin repeat domain 35

ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome

PMID:17236129 PMID:22366785 PMID:22581968 PMID:24220582 PMID:26233629 More...

NCBI chr 1:121,871,624...121,891,265
Ensembl chr 1:113,779,221...113,797,541

G

BCL9 transcription coactivator

ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome

NCBI chr 1:122,982,604...123,067,299
Ensembl chr 1:112,463,904...112,478,264

G

chromodomain helicase DNA binding protein 1 like

ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome

NCBI chr 1:122,595,246...122,720,788
Ensembl chr 1:112,809,274...112,862,219

G

flavin containing dimethylaniline monoxygenase 5

ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome

NCBI chr 1:122,605,677...122,648,325
Ensembl chr 1:112,881,859...112,921,194

G

gap junction protein alpha 5

ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome

NCBI chr 1:123,200,111...123,224,626
Ensembl chr 1:112,328,337...112,329,413

G

gap junction protein alpha 8

ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome

NCBI chr 1:123,352,801...123,355,625
Ensembl chr 1:112,174,365...112,177,893

G

G protein-coupled receptor 89A

ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome

NCBI chr 1:122,092,157...122,154,820

G

hemojuvelin BMP co-receptor

ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome

PMID:17236129 PMID:22366785 PMID:22581968 PMID:24220582 PMID:26233629 More...

NCBI chr 1:121,738,465...121,742,743
Ensembl chr 1:113,926,383...113,930,761

G

integrin subunit alpha 10

ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome

PMID:17236129 PMID:22366785 PMID:22581968 PMID:24220582 PMID:26233629 More...

NCBI chr 1:121,847,420...121,866,560
Ensembl chr 1:113,803,019...113,821,908

G

limb and CNS expressed 1 like

ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome

PMID:17236129 PMID:22366785 PMID:22581968 PMID:24220582 PMID:26233629 More...

NCBI chr 1:121,799,811...121,824,492
Ensembl chr 1:113,848,433...113,869,882

G

neuroblastoma breakpoint family member 3

ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome

NCBI chr 1:122,521,697...122,547,069

G

uncharacterized LOC129394575

ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome

G

nudix hydrolase 17

ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome

PMID:17236129 PMID:22366785 PMID:22581968 PMID:24220582 PMID:26233629 More...

NCBI chr 1:121,911,517...121,915,127

G

PDZ domain containing 1

ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome

NCBI chr 1:122,034,097...122,091,823
Ensembl chr 1:113,579,273...113,615,390

G

peroxisomal biogenesis factor 11 beta

ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome

PMID:17236129 PMID:22366785 PMID:22581968 PMID:24220582 PMID:26233629 More...

NCBI chr 1:121,839,167...121,846,617
Ensembl chr 1:113,821,787...113,830,830

G

protein inhibitor of activated STAT 3

ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome

PMID:17236129 PMID:22366785 PMID:22581968 PMID:24220582 PMID:26233629 More...

NCBI chr 1:121,900,224...121,911,513
Ensembl chr 1:113,758,691...113,768,714

G

RNA polymerase III subunit C

ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome

PMID:17236129 PMID:22366785 PMID:22581968 PMID:24220582 PMID:26233629 More...

NCBI chr 1:121,917,371...121,935,976
Ensembl chr 1:113,733,846...113,752,486

G

RNA polymerase III subunit GL

ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome

PMID:17236129 PMID:22366785 PMID:22581968 PMID:24220582 PMID:26233629 More...

NCBI chr 1:121,781,067...121,793,266
Ensembl chr 1:113,884,899...113,888,690

G

protein kinase AMP-activated non-catalytic subunit beta 2

ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome

NCBI chr 1:122,577,308...122,595,083
Ensembl chr 1:112,934,877...112,952,364

G

RNA binding motif protein 8A

ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome

PMID:9536098 PMID:16501574 PMID:17236129 PMID:17576681 PMID:20301781 More...

NCBI chr 1:121,830,424...121,836,378
Ensembl chr 1:113,834,110...113,839,429

G

ring finger protein 115

ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome

NCBI chr 1:121,936,054...122,016,273
Ensembl chr 1:113,651,728...113,733,788

G

thioredoxin interacting protein

ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome

PMID:17236129 PMID:22366785 PMID:22581968 PMID:24220582 PMID:26233629 More...

NCBI chr 1:121,763,312...121,767,468

Thrombocytopenic Purpura

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

glycoprotein IX platelet

NCBI chr 3:126,118,762...126,122,732
Ensembl chr 3:133,480,173...133,480,706

G

integrin subunit alpha 2b

NCBI chr17:13,009,514...13,027,289
Ensembl chr17:13,176,843...13,193,269

G

integrin subunit beta 3

associated with HIV Infections

PMID:8565280 PMID:11493456

RGD:10755471 RGD:2316362

NCBI chr17:10,134,450...10,194,596
Ensembl chr17:10,353,111...10,392,382

thrombocytosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

calreticulin

human gene in a mouse model;DNA:deletion, insertion:cds:c.1179_1230del, c.1234_1235insTTGTC (human)
CTD Direct Evidence: marker/mechanism

NCBI chr19:12,501,013...12,506,909
Ensembl chr19:13,242,900...13,249,416

G

carboxypeptidase B2

NCBI chr13:26,926,788...26,979,767

G

erythropoietin receptor

NCBI chr19:10,925,148...10,931,955
Ensembl chr19:11,635,248...11,642,383

G

interleukin 1 beta

NCBI chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424

G

Janus kinase 2

DNA:point mutations: :p.S755R, p.R938Q (human)
associated with Budd-Chiari syndrome;DNA:missense mutation:cds:p.V617F
essential thrombocythemia, OMIM:187950; DNA:transversion:CDS:1849G>T, amino acid V617F
CTD Direct Evidence: marker/mechanism

PMID:15781101 PMID:19287382 PMID:19287384 PMID:22467227 PMID:24398328

RGD:10449375 RGD:15039391 RGD:1627655

NCBI chr 9:4,820,303...4,971,867
Ensembl chr 9:5,006,271...5,156,626

G

protocadherin alpha-11

ClinVar Annotator: match by term: Thrombocytosis

NCBI chr 5:136,150,262...136,376,530
Ensembl chr 5:142,321,070...142,488,986

G

protocadherin alpha-2

ClinVar Annotator: match by term: Thrombocytosis

G

protocadherin alpha-7

ClinVar Annotator: match by term: Thrombocytosis

Ensembl chr 5:142,301,336...142,316,338

G

MPL proto-oncogene, thrombopoietin receptor

DNA:mutation:cds:c.317C > T,p.P106L(human)
CTD Direct Evidence: marker/mechanism

PMID:15813844 PMID:16484586 PMID:19036112

NCBI chr 1:42,639,191...42,654,738
Ensembl chr 1:44,018,395...44,034,492

G

protocadherin alpha 10

ClinVar Annotator: match by term: Thrombocytosis

G

protocadherin alpha 3

ClinVar Annotator: match by term: Thrombocytosis

Ensembl chr 5:142,280,707...142,283,181

G

protocadherin alpha 4

ClinVar Annotator: match by term: Thrombocytosis

Ensembl chr 5:142,286,433...142,289,088

G

SH2B adaptor protein 3

CTD Direct Evidence: marker/mechanism

NCBI chr12:108,977,344...109,024,029

G

thrombopoietin

susceptibility

DNA:deletion:5' utr
CTD Direct Evidence: marker/mechanism

PMID:9694695 PMID:15813844 PMID:33122006

NCBI chr 3:181,409,038...181,416,986
Ensembl chr 3:189,891,025...189,897,429

Thrombocytosis, Benign Familial Microcytic

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

MPL proto-oncogene, thrombopoietin receptor

ClinVar Annotator: match by term: Thrombocytosis, benign familial microcytic

PMID:8073287 PMID:11133753 PMID:16199547 PMID:16470591 PMID:18090929 More...

NCBI chr 1:42,639,191...42,654,738
Ensembl chr 1:44,018,395...44,034,492

Thrombotic Microangiopathies

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ADAM metallopeptidase with thrombospondin type 1 motif 13

CTD Direct Evidence: marker/mechanism

PMID:14625834 PMID:16388419

NCBI chr 9:104,541,051...104,582,574
Ensembl chr 9:133,156,761...133,193,707

G

ATR interacting protein

ClinVar Annotator: match by term: Thrombotic microangiopathy

NCBI chr 3:48,368,775...48,387,698
Ensembl chr 3:49,450,991...49,469,351

G

complement C3

treatment

NCBI chr19:5,708,211...5,753,178
Ensembl chr19:6,629,287...6,674,699

G

CD46 molecule

ClinVar Annotator: match by term: Thrombotic microangiopathy

PMID:16199547 PMID:16621965 PMID:16762990 PMID:23431077 PMID:23519521 More...

NCBI chr 1:183,330,423...183,373,916
Ensembl chr 1:188,031,758...188,182,046

G

complement factor H

ClinVar Annotator: match by term: Thrombotic microangiopathy

PMID:25741868 PMID:26283675 PMID:28492532 PMID:34912830

NCBI chr 1:172,155,882...172,251,632
Ensembl chr 1:176,455,247...176,525,521

G

complement factor I

ClinVar Annotator: match by term: Thrombotic microangiopathy

PMID:25741868 PMID:28492532

NCBI chr 4:102,236,868...102,311,359
Ensembl chr 4:112,804,645...112,865,581

G

carboxypeptidase B2

DNA:polymorphism: ;1542C>G(human)

NCBI chr13:26,926,788...26,979,767

G

coagulation factor III, tissue factor

NCBI chr 1:97,190,381...97,203,076
Ensembl chr 1:95,918,502...95,931,050

G

fibrinogen gamma chain

NCBI chr 4:146,970,671...146,979,348
Ensembl chr 4:158,788,966...158,797,237

G

glycoprotein VI platelet

protein:increased expression:plasma (human)

NCBI chr19:52,051,138...52,071,673
Ensembl chr19:60,746,578...60,770,643

G

integrin subunit beta 3

associated with Chronic Allograft Dysfunction;protein:increased expression:arteriole

NCBI chr17:10,134,450...10,194,596
Ensembl chr17:10,353,111...10,392,382

G

methylenetetrahydrofolate reductase

susceptibility

DNA:transition:cds:g.677C>T (human)

NCBI chr 1:10,548,196...10,568,174
Ensembl chr 1:11,766,334...11,785,419

G

nitric oxide synthase 2

protein:Increased expression:kidney:neutrophil, endothelial cell, kidney:

NCBI chr17:28,984,295...29,021,516
Ensembl chr17:29,471,510...29,617,093

G

nitric oxide synthase 3

protein:decreased expression:kidney:

NCBI chr 7:142,577,334...142,600,702
Ensembl chr 7:154,730,009...154,755,233

G

three prime repair exonuclease 1

ClinVar Annotator: match by term: Thrombotic microangiopathy

NCBI chr 3:48,387,762...48,389,693
Ensembl chr 3:49,470,222...49,471,331

G

vascular endothelial growth factor A

CTD Direct Evidence: marker/mechanism

NCBI chr 6:43,361,053...43,377,366
Ensembl chr 6:44,650,365...44,666,353

G

von Willebrand factor

disease_progression

protein:increased expression:plasma

PMID:20439183 PMID:21153061

RGD:7205650 RGD:7207026

NCBI chr12:6,073,836...6,249,806
Ensembl chr12:5,990,612...6,165,153

thrombotic thrombocytopenic purpura

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ADAM metallopeptidase with thrombospondin type 1 motif 13

ClinVar Annotator: match by term: ADAMTS13-related condition | ClinVar Annotator: match by term: Thrombotic thrombocytopenic purpura | ClinVar Annotator: match by term: Upshaw-Schulman syndrome

PMID:1787257 PMID:6433703 PMID:7094941 PMID:9536098 PMID:11563771 More...

NCBI chr 9:104,541,051...104,582,574
Ensembl chr 9:133,156,761...133,193,707

G

CD36 molecule (CD36 blood group)

NCBI chr 7:72,566,478...72,643,517
Ensembl chr 7:86,265,114...86,305,865

G

coagulation factor III, tissue factor

CTD Direct Evidence: marker/mechanism

NCBI chr 1:97,190,381...97,203,076
Ensembl chr 1:95,918,502...95,931,050

G

HLA class II histocompatibility antigen, DQ beta 1 chain

DNA:polymorphisms:cds:HLA-DQB1*0301 (human)

NCBI chr 6:32,237,395...32,244,201
Ensembl chr 6:33,353,599...33,360,272

G

protein C, inactivator of coagulation factors Va and VIIIa

NCBI chr2B:32,846,899...32,859,060
Ensembl chr2B:128,083,794...128,094,625

G

tissue factor pathway inhibitor

treatment

CTD Direct Evidence: marker/mechanism

NCBI chr2B:74,744,154...74,834,338
Ensembl chr2B:192,541,881...192,581,384

G

thrombomodulin

CTD Direct Evidence: marker/mechanism

NCBI chr20:22,992,341...22,996,415
Ensembl chr20:23,345,917...23,347,812

Thrombotic Thrombocytopenic Purpura, Acquired

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ADAM metallopeptidase with thrombospondin type 1 motif 13

treatment

human protein in a rat model

PMID:9828246 PMID:26338302

RGD:10449039 RGD:10449097

NCBI chr 9:104,541,051...104,582,574
Ensembl chr 9:133,156,761...133,193,707

G

von Willebrand factor

treatment

NCBI chr12:6,073,836...6,249,806
Ensembl chr12:5,990,612...6,165,153

vascular type Ehlers-Danlos syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

collagen type III alpha 1 chain

ClinVar Annotator: match by term: COL3A1-related condition | ClinVar Annotator: match by term: Ehlers Danlos syndrome, Sack-Barabas type | ClinVar Annotator: match by term: Ehlers Danlos syndrome, arterial type | ClinVar Annotator: match by term: Ehlers Danlos syndrome, ecchymotic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome vascular type

PMID:1352273 PMID:1939638 PMID:2049575 PMID:2235526 PMID:2243125 More...

NCBI chr2B:76,285,115...76,322,703
Ensembl chr2B:194,204,613...194,242,956

vitamin K deficiency bleeding

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

bone gamma-carboxyglutamate protein

NCBI chr 1:131,583,789...131,586,459
Ensembl chr 1:135,413,871...135,416,432

G

gamma-glutamyl carboxylase

no_association

NCBI chr2A:85,599,227...85,612,274
Ensembl chr2A:87,152,111...87,164,567

Von Willebrand Factor, Deficiency

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

multiple coagulation factor deficiency 2, ER cargo receptor complex subunit

ClinVar Annotator: match by term: Reduced von Willebrand factor activity

NCBI chr2A:47,012,550...47,031,725
Ensembl chr2A:47,950,679...47,987,407

G

von Willebrand factor

ClinVar Annotator: match by term: Reduced von Willebrand factor activity

PMID:3257148 PMID:8456430 PMID:9253800 PMID:10669167 PMID:11756169 More...

NCBI chr12:6,073,836...6,249,806
Ensembl chr12:5,990,612...6,165,153

von Willebrand's disease

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

coagulation factor III, tissue factor

NCBI chr 1:97,190,381...97,203,076
Ensembl chr 1:95,918,502...95,931,050

G

von Willebrand factor

treatment

ClinVar Annotator: match by term: Hereditary von Willebrand disease | ClinVar Annotator: match by term: Von Willebrand disease, recessive form | ClinVar Annotator: match by term: von Willebrand disorder

PMID:1301136 PMID:1302613 PMID:1324533 PMID:1380739 PMID:1415226 More...

NCBI chr12:6,073,836...6,249,806
Ensembl chr12:5,990,612...6,165,153

von Willebrand's disease 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

integrin subunit alpha 2

severity
no_association

DNA:SNP: :807C>T (human)

PMID:14652648 PMID:15226188

RGD:10766468 RGD:11530070

NCBI chr 5:60,935,452...61,040,726
Ensembl chr 5:62,555,370...62,659,720

G

integrin subunit alpha 2b

severity

DNA:haplotype:cds:

NCBI chr17:13,009,514...13,027,289
Ensembl chr17:13,176,843...13,193,269

G

plasminogen activator, tissue type

treatment

NCBI chr 8:41,419,415...41,451,951
Ensembl chr 8:38,864,918...38,897,779

G

von Willebrand factor

ClinVar Annotator: match by term: VWD, TYPE 1 | ClinVar Annotator: match by term: von Willebrand disease type 1 | ClinVar Annotator: match by term: von Willebrand disease, type 1, susceptibility to

PMID:1301136 PMID:1302613 PMID:1373334 PMID:1415226 PMID:1581215 More...

NCBI chr12:6,073,836...6,249,806
Ensembl chr12:5,990,612...6,165,153

von Willebrand's disease 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

coagulation factor VIII

protein:decreased expression:plasma

NCBI chr X:144,316,192...144,505,773
Ensembl chr X:154,156,873...154,341,317

G

integrin subunit alpha 2

severity

DNA:haplotype:promoter:

NCBI chr 5:60,935,452...61,040,726
Ensembl chr 5:62,555,370...62,659,720

G

integrin subunit alpha 2b

no_association

DNA:haplotype::

NCBI chr17:13,009,514...13,027,289
Ensembl chr17:13,176,843...13,193,269

G

von Willebrand factor

treatment

ClinVar Annotator: match by term: VWD, TYPE 2 | ClinVar Annotator: match by term: Von Willebrand disease type 2A | ClinVar Annotator: match by term: Von Willebrand disease type 2B | ClinVar Annotator: match by term: von Willebrand disease type 2 | ClinVar Annotator: match by term: von Willebrand disease type 2M | ClinVar Annotator: match by term: von Willebrand disease type 2N

OMIM
ClinVar
RGD

PMID:1324533 PMID:1373334 PMID:1380739 PMID:1409710 PMID:1415226 More...

NCBI chr12:6,073,836...6,249,806
Ensembl chr12:5,990,612...6,165,153

von Willebrand's disease 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

von Willebrand factor

ClinVar Annotator: match by term: VON WILLEBRAND DISEASE, TYPE III | ClinVar Annotator: match by term: von Willebrand disease type 3

PMID:1301136 PMID:1302613 PMID:1415226 PMID:1581215 PMID:1832934 More...

NCBI chr12:6,073,836...6,249,806
Ensembl chr12:5,990,612...6,165,153

Wiskott-Aldrich syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

forkhead box P3

OMIM:301000 | OMIM:614493

NCBI chr X:41,550,462...41,567,492
Ensembl chr X:49,402,652...49,417,029

G

WASP actin nucleation promoting factor

ClinVar Annotator: match by term: Aldrich syndrome | ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1 | ClinVar Annotator: match by term: Wiskott-Aldrich syndrome | ClinVar Annotator: match by term: Wiskott-Aldrich syndrome, attenuated

PMID:2906042 PMID:3284030 PMID:7579329 PMID:7579347 PMID:7735919 More...

NCBI chr X:40,982,132...40,989,767
Ensembl chr X:48,842,765...48,850,380

G

WASH complex subunit 4

OMIM:301000

NCBI chr12:102,689,904...102,751,220
Ensembl chr12:106,085,523...106,146,796

G

WAS/WASL interacting protein family member 1

CTD Direct Evidence: marker/mechanism

NCBI chr2B:61,837,128...61,960,468
Ensembl chr2B:179,290,685...179,316,695

G

WRN RecQ like helicase

ClinVar Annotator: match by term: Wiskott-Aldrich syndrome

PMID:10069711 PMID:10220139 PMID:16786514 PMID:18414213 PMID:19824023 More...

NCBI chr 8:30,353,643...30,492,978
Ensembl chr 8:27,541,145...27,679,855

Wiskott-Aldrich Syndrome 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cholinergic receptor nicotinic alpha 1 subunit

ClinVar Annotator: match by term: Wiskott-Aldrich syndrome 2

NCBI chr2B:62,022,498...62,039,370
Ensembl chr2B:179,476,677...179,504,763

G

WAS/WASL interacting protein family member 1

ClinVar Annotator: match by term: Wiskott-Aldrich syndrome 2

PMID:9536098 PMID:17576681 PMID:22231303 PMID:24033266 PMID:25741868 More...

NCBI chr2B:61,837,128...61,960,468
Ensembl chr2B:179,290,685...179,316,695

X-linked cardiac valvular dysplasia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

filamin A

ClinVar Annotator: match by term: Cardiac valvular dysplasia, X-linked | ClinVar Annotator: match by term: Myxomatous valvular dystrophy, X-linked

PMID:240645 PMID:1854572 PMID:8230166 PMID:9497244 PMID:9536098 More...

NCBI chr X:143,799,088...143,825,282

X-linked dyserythropoietic anemia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

GATA binding protein 1

ClinVar Annotator: match by term: ANEMIA, X-LINKED, WITH OR WITHOUT NEUTROPENIA AND/OR PLATELET ABNORMALITIES

PMID:871527 PMID:12200364 PMID:14691578 PMID:15895080 PMID:16783379 More...

NCBI chr X:41,088,724...41,092,190
Ensembl chr X:48,945,394...48,953,126

X-linked thrombocytopenia with beta-thalassemia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

GATA binding protein 1

ClinVar Annotator: match by term: Beta-thalassemia-X-linked thrombocytopenia syndrome | ClinVar Annotator: match by term: Thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis

PMID:871527 PMID:12200364 PMID:14691578 PMID:16783379 PMID:17148589 More...

NCBI chr X:41,088,724...41,092,190
Ensembl chr X:48,945,394...48,953,126

X-Linked Thrombocytopenia, Intermittent

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

WASP actin nucleation promoting factor

ClinVar Annotator: match by term: Thrombocytopenia, X-linked, intermittent

NCBI chr X:40,982,132...40,989,767
Ensembl chr X:48,842,765...48,850,380

X-Linked Thrombocytopenia, with or without Dyserythropoietic Anemia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

GATA binding protein 1

ClinVar Annotator: match by term: GATA1-Related X-Linked Cytopenia | ClinVar Annotator: match by term: Thrombocytopenia, X-linked, with or without dyserythropoietic anemia | ClinVar Annotator: match by term: Thrombocytopenia, X-linked, without dyserythropoietic anemia

PMID:871527 PMID:3164080 PMID:10700180 PMID:11418466 PMID:11809723 More...

NCBI chr X:41,088,724...41,092,190
Ensembl chr X:48,945,394...48,953,126

G

zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2

DNA:missense mutation:multiple (human)

NCBI chr X:8,413,483...8,447,340
Ensembl chr X:15,772,064...15,804,913

XEROSIS AND GROWTH FAILURE WITH IMMUNE AND PULMONARY DYSFUNCTION SYNDROME

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

debranching RNA lariats 1

ClinVar Annotator: match by term: Xerosis and growth failure with immune and pulmonary dysfunction syndrome

NCBI chr 3:135,188,636...135,202,934
Ensembl chr 3:142,639,712...142,653,016

Term paths to the root

Path 1
Term	Annotations
disease	17996
disease of anatomical entity	15260
hematopoietic system disease	3221
blood coagulation disease	930
hemorrhagic disease	884
Familial Hemorrhagic Diathesis due to Antithrombin	0
Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Cataracts	1
Plasminogen Activator Inhibitor-1 Deficiency	7
Waterhouse-Friderichsen syndrome +	0
Wiskott-Aldrich syndrome +	6
alpha-2-plasmin inhibitor deficiency	1
blood platelet disease +	354
congenital afibrinogenemia +	5
disseminated intravascular coagulation +	18
factor V deficiency +	5
factor VII deficiency	2
factor VIII deficiency +	25
factor X deficiency	40
factor XI deficiency	10
factor XII deficiency	2
factor XIII deficiency +	3
hemophilia B	7
prothrombin deficiency +	2
purpura +	51
vascular hemostatic disease +	469
vitamin K deficiency bleeding	2
von Willebrand's disease +	8
Path 2
Term	Annotations
disease	17996
disease of anatomical entity	15260
Hemic and Lymphatic Diseases	3704
hematopoietic system disease	3221
blood coagulation disease	930
hemorrhagic disease	884
Familial Hemorrhagic Diathesis due to Antithrombin	0
Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Cataracts	1
Plasminogen Activator Inhibitor-1 Deficiency	7
Waterhouse-Friderichsen syndrome +	0
Wiskott-Aldrich syndrome +	6
alpha-2-plasmin inhibitor deficiency	1
blood platelet disease +	354
congenital afibrinogenemia +	5
disseminated intravascular coagulation +	18
factor V deficiency +	5
factor VII deficiency	2
factor VIII deficiency +	25
factor X deficiency	40
factor XI deficiency	10
factor XII deficiency	2
factor XIII deficiency +	3
hemophilia B	7
prothrombin deficiency +	2
purpura +	51
vascular hemostatic disease +	469
vitamin K deficiency bleeding	2
von Willebrand's disease +	8

paths to the root