blood platelet 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:	blood platelet disease	go back to main search page
Accession:	DOID:2218	browse the term
Definition:	A blood coagulation disease that is characterized by an abnormal increase or decrease in platelets or platelet dysfunction. (DO)
Synonyms:	exact_synonym:	blood platelet disorder; blood platelet disorders; platelet disorder; thrombocytopathies; thrombocytopathy
	narrow_synonym:	Thrombopathia
	primary_id:	MESH:D001791
	alt_id:	OMIA:001003
	xref:	MIM:PS231200; NCI:C131634
For additional species annotation, visit the Alliance of Genome Resources.

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Rat (450) Mouse (446) Human (11448) Chinchilla (389) Bonobo (434) Dog (429) Squirrel (390) Pig (418) Green Monkey (417) Naked Mole-rat (388) All
Genes (447) Strains (3)

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 chr 4:151,670,604...151,740,032
Ensembl chr 4:151,672,037...151,739,968

G

CD36 molecule

CD36 deficiency, OMIM:608404, DNA:point mutation, frameshift mutation
ClinVar Annotator: match by term: Platelet disorder

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

NCBI chr 4:17,317,343...17,410,084
Ensembl chr 4:17,354,466...17,513,903

G

FERM domain containing kindlin 3

CTD Direct Evidence: marker/mechanism

NCBI chr 1:204,189,483...204,207,683
Ensembl chr 1:204,189,484...204,207,587

G

glycoprotein VI

Sticky platelet syndrome type II;DNA:SNPs:introns: (rs1671153, rs1654419) (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 associated with Spontaneous Abortion;DNA:missense mutations:CDS:p.H322N, p.A249T, p.E237K (rs1671152, rs2304167, rs1654416) (human)
Sticky platelet syndrome type I associated with cerebral infarction;DNA:SNPs, haplotype:multiple (human)

RGD

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

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

NCBI chr 1:69,429,232...69,492,709
Ensembl chr 1:69,465,789...69,491,326

G

phospholipase A2 group 4A

CTD Direct Evidence: marker/mechanism

NCBI chr13:61,877,818...62,022,261
Ensembl chr13:61,877,813...62,022,266

G

RUNX family transcription factor 1

ClinVar Annotator: match by term: Platelet disorder

PMID:10508512 PMID:11049997 PMID:11830488 PMID:12002768 PMID:22012064 More...

NCBI chr11:31,839,880...32,074,427
Ensembl chr11:31,843,764...32,074,542

G

syntaxin binding protein 2

CTD Direct Evidence: marker/mechanism

NCBI chr12:1,689,364...1,701,145
Ensembl chr12:1,689,410...1,700,458

G

thromboxane A2 receptor

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

CTD
RGD

PMID:7929844 PMID:19828703 PMID:7929844

NCBI chr 7:8,383,347...8,390,753
Ensembl chr 7:8,383,378...8,388,176

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

protein:decreased activity:serum (human)
ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome

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

NCBI chr 3:10,299,264...10,338,464
Ensembl chr 3:10,300,028...10,346,687

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 5:63,851,668...63,860,641
Ensembl chr 5:63,850,705...63,860,685

G

C1GALT1-specific chaperone 1

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

PMID:25741868 PMID:36599939

NCBI chr X:117,378,123...117,382,620
Ensembl chr X:117,375,525...117,382,787

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 chr20:3,951,474...3,970,376
Ensembl chr20:3,951,474...3,976,505

G

complement C3

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: 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, 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
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1
DNA:missense mutations: :p.F603V, p.R1042L, p.I1157T (human)

OMIM
ClinVar
CTD
RGD

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

RGD:7364995, RGD:11040768

NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429

G

complement C3a receptor 1

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

NCBI chr 4:156,074,747...156,084,680
Ensembl chr 4:156,075,389...156,084,701

G

CD46 molecule

severity
susceptibility

DNA:mutations:cds:multiple (human)
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: Hemolytic uremic syndrome, atypical, susceptibility to, 1
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: CD46-related condition | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome | ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome | ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome | ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome | ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome | ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome | ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2
CTD Direct Evidence: marker/mechanism
protein:increased expression:peripheral blood mononuclear cell (human)
DNA:snp:intron:c.IVS8+23T>G (rs2724374) (human)
DNA:missense mutations:cds:p.R69W, p.A304V (human)

ClinVar
OMIM
CTD
RGD

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

RGD:11038684, RGD:11352810, RGD:11040768, RGD:11352768

NCBI chr13:106,575,586...106,606,325
Ensembl chr13:106,574,858...106,660,445

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 chr 7:35,310,071...35,399,388
Ensembl chr 7:35,310,199...35,399,392

G

complement factor B

DNA, protein:mutations:cds: c.858C>G, F286L, c.967A>G, K323E (human)
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome
CTD Direct Evidence: marker/mechanism
DNA:nonsense mutations: :multiple

OMIM
ClinVar
CTD
RGD

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

RGD:7242707, RGD:11040768

NCBI chr20:3,970,643...3,976,510
Ensembl chr20:3,951,474...3,976,505

G

complement factor H

DNA:missense mutation
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 6 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 6 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1
CTD Direct Evidence: marker/mechanism
DNA:nonsense mutations, missense mutations, splice-site mutation: :multiple
DNA:deletion:Cds:
DNA:SNPs,Haplotype::

OMIM
ClinVar
MouseDO
CTD
RGD

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

RGD:1599886, RGD:11041172, RGD:11041162, RGD:11040768, RGD:7364995, RGD:7364995, RGD:7364995

NCBI chr13:51,512,376...51,613,829
Ensembl chr13:51,511,828...51,613,838

G

complement factor H-related 1

susceptibility

DNA:deletion
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1

OMIM
CTD
ClinVar
RGD

PMID:16998489 PMID:17367211 PMID:18006700 PMID:20843825 PMID:25741868 More...

NCBI chr13:51,395,583...51,410,571
Ensembl chr13:51,369,211...51,410,592

G

complement factor H-related 4

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

PMID:25741868 PMID:28492532

NCBI chr13:51,422,592...51,491,476
Ensembl chr13:51,422,592...51,491,502

G

complement factor I

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, 4 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 6 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome

ClinVar
OMIM
CTD
RGD

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

NCBI chr 2:218,389,079...218,430,565
Ensembl chr 2:218,387,990...218,430,561

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 chr 9:83,875,849...84,004,955
Ensembl chr 9:83,875,561...84,001,895

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 chr 9:83,833,173...83,875,436
Ensembl chr 9:83,755,515...83,875,876

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:105,118,762...105,322,699
Ensembl chr X:105,118,820...105,322,692

G

diacylglycerol kinase epsilon

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1

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

NCBI chr10:73,853,030...73,877,334
Ensembl chr10:73,855,583...73,877,100

G

hemoglobin subunit beta

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

PMID:893142 PMID:1726094 PMID:7558877 PMID:25741868

NCBI chr 1:158,250,421...158,251,832
Ensembl chr 1:158,120,200...158,252,012

G

laminin subunit beta 2

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

PMID:25741868 PMID:28492532

NCBI chr 8:109,178,367...109,190,552
Ensembl chr 8:109,178,409...109,190,549

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 5:130,166,056...130,172,735
Ensembl chr 5:130,166,451...130,172,601

G

myosin, heavy chain 9

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

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

NCBI chr 7:109,343,718...109,424,457
Ensembl chr 7:109,343,706...109,424,457

G

NLR family, pyrin domain containing 3

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

PMID:25741868 PMID:28492532

NCBI chr10:44,326,770...44,353,814
Ensembl chr10:44,328,566...44,352,811

G

nephrocystin 3

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

PMID:25741868 PMID:26184788 PMID:28492532

NCBI chr 8:104,621,908...104,662,383
Ensembl chr 8:104,621,864...104,662,383

G

nephrocystin 4

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

PMID:25741868 PMID:28492532

NCBI chr 5:162,986,157...163,073,708
Ensembl chr 5:162,988,370...163,073,706

G

phospholipase A2 receptor 1

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

NCBI chr 3:44,883,943...45,013,793
Ensembl chr 3:44,883,943...45,013,660

G

plasminogen

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

PMID:25741868 PMID:28492532

NCBI chr 1:48,325,186...48,367,643
Ensembl chr 1:48,325,185...48,367,786

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 chr 9:74,239,718...74,286,156
Ensembl chr 9:74,240,241...74,286,146

G

thrombomodulin

severity
susceptibility
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
CTD Direct Evidence: marker/mechanism
DNA:SNPs:5' utr, 3' utr:multiple
DNA:missense mutations:CDS:multiple

OMIM
ClinVar
CTD
RGD

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

RGD:11038684, RGD:11038691, RGD:11038691

NCBI chr 3:135,863,366...135,867,018
Ensembl chr 3:135,862,835...135,867,193

G

transmembrane protein 67

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

PMID:25741868 PMID:28492532

NCBI chr 5:25,536,458...25,589,378
Ensembl chr 5:25,536,458...25,589,334

G

transient receptor potential cation channel, subfamily C, member 6

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

PMID:19380626 PMID:25741868

NCBI chr 8:5,759,387...5,864,000
Ensembl chr 8:5,758,935...5,828,092

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 chr 3:91,566,540...91,613,653
Ensembl chr 3:91,567,001...91,613,643

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 3:10,299,264...10,338,464
Ensembl chr 3:10,300,028...10,346,687

G

albumin

RGD

NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836

G

CD40 molecule

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

RGD

NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534

G

CD40 ligand

treatment

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

RGD

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

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

NCBI chr X:135,127,052...135,138,768
Ensembl chr X:135,126,969...135,138,306

G

CD86 molecule

treatment

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

RGD

PMID:19379594 PMID:20581660

RGD:11354966, RGD:11520785

NCBI chr11:64,142,193...64,200,816
Ensembl chr11:64,163,828...64,200,818

G

DNA methyltransferase 3 alpha

mRNA:decreased expression:mononuclear cell

RGD

NCBI chr 6:26,791,517...26,902,161
Ensembl chr 6:26,822,609...26,896,687

G

DNA methyltransferase 3 beta

susceptibility

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

RGD

PMID:18683034 PMID:23000068

RGD:9588662, RGD:9589094

NCBI chr 3:142,130,588...142,169,128
Ensembl chr 3:142,130,592...142,169,124

G

Fas cell surface death receptor

protein:increased expression:serum:

RGD

NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591

G

Fc gamma receptor 2A

no_association
susceptibility
treatment

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

RGD

PMID:20699442 PMID:23249566 PMID:22123287 PMID:21131591

RGD:11040883, RGD:11040990, RGD:11040989, RGD:11040933

NCBI chr13:83,280,782...83,297,535
Ensembl chr13:83,280,784...83,295,967

G

Fc gamma receptor 2B

treatment
disease_progression

DNA:SNP: :p.I232T (human)

RGD

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

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

NCBI chr13:83,191,253...83,207,778
Ensembl chr13:83,193,163...83,207,778

G

Fc gamma receptor 3A

treatment
susceptibility

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

RGD

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

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

NCBI chr13:83,249,905...83,259,921
Ensembl chr13:83,249,872...83,259,921

G

glycoprotein Ib platelet subunit alpha

RGD

NCBI chr10:55,352,938...55,355,804
Ensembl chr10:55,352,899...55,356,774

G

interleukin 10

disease_progression

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

RGD

PMID:25051072 PMID:22677268

RGD:11041894, RGD:11046267

NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313

G

interleukin 18

protein:increased expression:plasma:

RGD

NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887

G

interleukin 1 alpha

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

RGD

NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822

G

interleukin 1 receptor antagonist

susceptibility

DNA:repeats::

RGD

NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445

G

interleukin 2

susceptibility

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

RGD

NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566

G

interleukin 4

disease_progression

DNA:repeat:intron

RGD

NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750

G

integrin subunit beta 3

RGD

PMID:10936026 PMID:24258817

RGD:10755473, RGD:10755475

NCBI chr10:89,509,917...89,564,679
Ensembl chr10:89,509,989...89,564,679

G

microRNA 130a

RNA:decreased expression:PBMC

RGD

NCBI chr 3:69,822,542...69,822,629
Ensembl chr 3:69,822,542...69,822,629

G

microRNA 3581

treatment

RGD

NCBI chr 6:128,757,779...128,757,858
Ensembl chr 6:128,757,779...128,757,858

G

microRNA 409

treatment

NCBI chr 6:128,757,780...128,757,856
Ensembl chr 6:128,757,779...128,757,858

G

plasminogen activator, tissue type

protein:increased expression:plasma (human)

RGD

NCBI chr16:69,240,582...69,265,177
Ensembl chr16:69,240,585...69,268,223

G

protein tyrosine phosphatase, non-receptor type 22

no_association

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

RGD

PMID:21597364 PMID:27309885

RGD:6484673, RGD:11535019

NCBI chr 2:191,366,761...191,414,782
Ensembl chr 2:191,366,808...191,414,779

G

RT1 class II, locus Bb

treatment

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

RGD

NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597

G

RT1 class II, locus Db1

treatment

DNA:polymorphisms:cds:HLA-DRB1*0901, HLA-DRB1*0410 (human)

RGD

NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258

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 chr10:4,882,651...4,884,342
Ensembl chr10:4,882,560...4,884,383

G

transforming growth factor, beta 1

disease_progression

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

RGD

PMID:11886393 PMID:24763013 PMID:24801815

RGD:11073598, RGD:11073603, RGD:11073600

NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847

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
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

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

NCBI chr 3:163,247,990...163,257,460
Ensembl chr 3:163,247,967...163,256,063

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
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:1449176 PMID:5011389 PMID:8280620 PMID:9390828 PMID:10603121 More...

NCBI chr 7:109,343,718...109,424,457
Ensembl chr 7:109,343,706...109,424,457

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

susceptibility
treatment

DNA:missense mutation: :p.V262G (c.785T>G) (human)
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
OMIM:231200
CTD Direct Evidence: marker/mechanism
DNA:missense mutation, nonsense mutation: :p.C209S (715T>A) (human)
DNA:missense mutation: :p.N45S (1829A>G) (human)
DNA:missense mutation, deletion: :p.L129P, 4630_4631del (human)
DNA:missense mutation: :p.L129P (human)
DNA:missense mutation: :p.N126D (c.376A>G) (human)

OMIM
ClinVar
MouseDO
CTD
RGD

PMID:7579348 PMID:7819107 PMID:7855797 PMID:8950770 PMID:9233564 More...

RGD:10450796, RGD:10450843, RGD:10450834, RGD:10450833, RGD:10450819, RGD:10450809, RGD:10450798

NCBI chr10:55,352,938...55,355,804
Ensembl chr10:55,352,899...55,356,774

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
OMIM:231200
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:exon:c.281A>G(p.D94G)(human)
DNA:deletion:cds:
DNA:mutations:cds:p.Y88C,A108P(human)

OMIM
ClinVar
MouseDO
CTD
RGD

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

RGD:13464128, RGD:11040530, RGD:11040529, RGD:11040528

NCBI chr11:82,378,216...82,379,393
Ensembl chr11:82,378,199...82,379,392

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
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:c.182A>G(p.N61S)(human)
DNA:mutation:cds:p.C73Y(human)

OMIM
ClinVar
CTD
RGD

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

RGD:13464128, RGD:11040531

NCBI chr 4:120,235,500...120,237,110
Ensembl chr 4:120,235,421...120,237,110

G

von Willebrand factor

RGD

NCBI chr 4:158,360,152...158,491,539
Ensembl chr 4:158,360,152...158,491,539

G

WAP four-disulfide core domain 21

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 chr10:68,627,836...68,633,705
Ensembl chr10:68,627,820...68,633,701

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:7819107 More...

NCBI chr10:55,352,938...55,355,804
Ensembl chr10:55,352,899...55,356,774

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

susceptibility

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

PMID:1694864 PMID:1730088 PMID:7579348 PMID:7690774 PMID:7819107 More...

NCBI chr10:55,352,938...55,355,804
Ensembl chr10:55,352,899...55,356,774

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

RGD

PMID:11222377 PMID:18815197

RGD:10450832, RGD:10450842

NCBI chr10:55,352,938...55,355,804
Ensembl chr10:55,352,899...55,356,774

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 chr11:82,378,216...82,379,393
Ensembl chr11:82,378,199...82,379,392

G

WAP four-disulfide core domain 21

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 chr10:68,627,836...68,633,705
Ensembl chr10:68,627,820...68,633,701

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)

DNA:missense mutations:cds:p.D21G, p.N45S (human)
ClinVar Annotator: match by term: Bernard-Soulier syndrome type C

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

NCBI chr 4:120,235,500...120,237,110
Ensembl chr 4:120,235,421...120,237,110

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

PMID:25741868 PMID:28150392

NCBI chr 8:122,601,888...122,672,750
Ensembl chr 8:122,601,897...122,672,750

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

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital amegakaryocytic thrombocytopenia
OMIM:604498

CTD
ClinVar
MouseDO

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

NCBI chr 5:131,973,895...131,987,472
Ensembl chr 5:131,973,895...131,986,797

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

ClinVar Annotator: match by term: Congenital amegakaryocytic thrombocytopenia 1

PMID:971406 PMID:10077649 PMID:10971406 PMID:11071383 PMID:11133753 More...

NCBI chr 5:131,973,895...131,987,472
Ensembl chr 5:131,973,895...131,986,797

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...

Ensembl chr11:80,182,820...80,188,167

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 8:114,928,678...114,994,027
Ensembl chr 8:114,917,824...114,994,028

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)

RGD

NCBI chr10:55,352,938...55,355,804
Ensembl chr10:55,352,899...55,356,774

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)

RGD

NCBI chr 1:242,664,657...242,723,239
Ensembl chr 1:242,664,657...242,723,238

G

dihydropyrimidine dehydrogenase

treatment

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

RGD

PMID:19473056 PMID:23064955

RGD:11098817, RGD:11251740

NCBI chr 2:206,609,043...207,474,982
Ensembl chr 2:206,609,122...207,474,982

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:

RGD

PMID:19786980 PMID:20303013

RGD:5688741, RGD:10450835

NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411

G

glutathione S-transferase theta 1

treatment

associated with diffuse large B-cell lymphoma; DNA:deletion:cds:

RGD

NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585

G

interleukin 1 alpha

treatment

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

RGD

PMID:7666093 PMID:8151314

RGD:11051963, RGD:11051964

NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822

G

interleukin 1 beta

treatment

associated with Glioblastoma;

RGD

NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415

G

platelet and endothelial cell adhesion molecule 1

severity

RGD

PMID:10942385 PMID:17234740

RGD:11541093, RGD:11541120

NCBI chr10:91,590,521...91,652,279
Ensembl chr10:91,590,521...91,652,116

G

platelet factor 4

treatment

RGD

NCBI chr14:17,298,304...17,299,220
Ensembl chr14:17,298,308...17,299,365

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 chr 6:124,522,283...124,592,412
Ensembl chr 6:124,525,523...124,592,015

G

bradykinin receptor B1

ClinVar Annotator: match by term: Thrombocythemia 1

NCBI chr 6:124,510,827...124,514,475
Ensembl chr 6:124,510,870...124,513,747

G

bradykinin receptor B2

ClinVar Annotator: match by term: Thrombocythemia 1

NCBI chr 6:124,472,317...124,502,497
Ensembl chr 6:124,472,566...124,502,497

G

similar to human chromosome 14 open reading frame 132

ClinVar Annotator: match by term: Thrombocythemia 1

NCBI chr 6:124,365,466...124,398,449

G

calreticulin

severity

ClinVar Annotator: match by term: Thrombocythemia 1
DNA:mutations:multiple (human)

OMIM
ClinVar
RGD

PMID:24325356 PMID:24325359 PMID:25741868 PMID:24496303 PMID:25860380

RGD:11352751, RGD:11352747

NCBI chr19:23,308,525...23,313,420
Ensembl chr19:23,308,351...23,313,414

G

CD36 molecule

protein:increased expression:platelet, cell surface

RGD

NCBI chr 4:17,317,343...17,410,084
Ensembl chr 4:17,354,466...17,513,903

G

CD40 ligand

protein:increased expression:serum (human)

RGD

NCBI chr X:135,127,052...135,138,768
Ensembl chr X:135,126,969...135,138,306

G

elastase, neutrophil expressed

protein:increased expression:plasma:

RGD

NCBI chr 7:9,817,251...9,819,174
Ensembl chr 7:9,817,252...9,819,100

G

fibroblast growth factor 2

CTD Direct Evidence: marker/mechanism

NCBI chr 2:120,236,328...120,290,673
Ensembl chr 2:120,236,328...120,291,221

G

GSK3B interacting protein

ClinVar Annotator: match by term: Thrombocythemia 1

NCBI chr 6:124,586,087...124,609,106
Ensembl chr 6:124,586,070...124,609,100

G

Janus kinase 2

severity

DNA:mutation: :p.V617F (human)
OMIM:187950 | OMIM:601977 | OMIM:614521
CTD Direct Evidence: marker/mechanism

MouseDO
CTD
RGD

PMID:15781101 PMID:15858187 PMID:16484586 PMID:16896569 PMID:19154659 More...

NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189

G

MPL proto-oncogene, thrombopoietin receptor

DNA:missense mutation:cds:pS505N (human)
ClinVar Annotator: match by term: Essential thrombocythemia | ClinVar Annotator: match by term: Thrombocythemia 1
mRNA, protein:decreased expression:blood, platelet (human)

PMID:8073287 PMID:10971406 PMID:11071383 PMID:11133753 PMID:14764528 More...

RGD:10449014, RGD:10449016

NCBI chr 5:131,973,895...131,987,472
Ensembl chr 5:131,973,895...131,986,797

G

MYB proto-oncogene, transcription factor

OMIM:187950 | OMIM:300331 | OMIM:601977 | OMIM:614521

NCBI chr 1:15,939,771...15,973,367
Ensembl chr 1:15,939,761...15,973,057

G

platelet derived growth factor subunit A

CTD Direct Evidence: marker/mechanism

NCBI chr12:15,645,549...15,667,056
Ensembl chr12:15,645,541...15,666,497

G

platelet derived growth factor subunit B

CTD Direct Evidence: marker/mechanism

NCBI chr 7:111,539,444...111,557,984
Ensembl chr 7:111,540,345...111,557,984

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 chr12:34,731,934...34,753,617
Ensembl chr12:34,731,911...34,753,616

G

Tcl1 family Akt coactivator A

ClinVar Annotator: match by term: Thrombocythemia 1

NCBI chr 6:124,125,032...124,131,025
Ensembl chr 6:124,125,032...124,131,025

G

transforming growth factor, beta 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847

G

thrombopoietin

ClinVar Annotator: match by term: Thrombocythemia 1
DNA:mutation:splice junction:

OMIM
ClinVar
RGD

PMID:7772529 PMID:9425899 PMID:9694695 PMID:10583217 PMID:16199547 More...

Ensembl chr11:80,182,820...80,188,167

G

TCL1 upstream neural differentiation-associated RNA

ClinVar Annotator: match by term: Thrombocythemia 1

NCBI chr 6:124,245,949...124,293,440

G

vascular cell adhesion molecule 1

protein:increased expression:serum:

RGD

NCBI chr 2:204,038,120...204,057,852
Ensembl chr 2:204,038,114...204,057,958

G

von Willebrand factor

RGD

NCBI chr 4:158,360,152...158,491,539
Ensembl chr 4:158,360,152...158,491,539

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 chr 9:46,268,758...46,305,038
Ensembl chr 9:46,269,252...46,305,024

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 chr 9:46,198,234...46,236,325
Ensembl chr 9:46,198,635...46,235,936

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 chr 9:46,309,477...46,354,478
Ensembl chr 9:46,309,389...46,354,472

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 chr15:101,045,033...101,679,888
Ensembl chr15:101,045,036...101,679,900

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 chr 9:46,130,451...46,145,128
Ensembl chr 9:46,134,001...46,145,112

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 chr 9:46,256,388...46,268,714
Ensembl chr 9:46,256,390...46,268,532

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 chr16:84,386,528...84,409,475
Ensembl chr16:84,374,862...84,409,475

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 chr 9:46,243,416...46,252,273
Ensembl chr 9:46,242,748...46,252,249

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 chr 9:46,046,712...46,128,157
Ensembl chr 9:46,046,632...46,128,157

Familial Platelet Disorder with Associated Myeloid Malignancy

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP synthase peripheral stalk subunit OSCP

ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chr11:31,165,218...31,171,530
Ensembl chr11:31,165,217...31,171,592

G

carbonyl reductase 1

ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1

PMID:17237124 PMID:18723428 PMID:23512985 PMID:24100448 PMID:25741868 More...

NCBI chr11:32,860,571...32,862,981
Ensembl chr11:32,908,950...32,911,393
Ensembl chr11:32,908,950...32,911,393

G

carbonyl reductase 3

ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1

PMID:17237124 PMID:18723428 PMID:23512985 PMID:24100448 PMID:28492532

NCBI chr11:33,008,615...33,016,877
Ensembl chr11:33,008,615...33,016,875

G

cilia and flagella associated protein 298

ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chr11:30,181,916...30,191,302
Ensembl chr11:30,181,905...30,191,346

G

chromatin assembly factor 1 subunit B

ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1

PMID:17237124 PMID:18723428 PMID:23512985 PMID:24100448 PMID:28492532

NCBI chr11:33,200,894...33,221,076
Ensembl chr11:33,200,981...33,221,070

G

claudin 14

ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1

PMID:17237124 PMID:18723428 PMID:23512985 PMID:24100448 PMID:28492532

NCBI chr11:33,232,281...33,329,440
Ensembl chr11:33,232,220...33,329,171

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:17237124 PMID:18723428 PMID:23512985 PMID:24100448 PMID:28492532 More...

NCBI chr11:31,737,813...31,780,360
Ensembl chr11:31,737,813...31,780,061

G

crystallin zeta like 1

ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chr11:30,933,140...30,977,936
Ensembl chr11:30,933,144...30,977,867

G

DnaJ heat shock protein family (Hsp40) member C28

ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chr11:30,855,566...30,858,386
Ensembl chr11:30,853,526...30,858,441

G

DNA replication fork stabilization factor DONSON

ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chr11:30,919,834...30,933,150
Ensembl chr11:30,923,239...30,932,889

G

DOP1 leucine zipper like protein B

ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1

PMID:17237124 PMID:18723428 PMID:23512985 PMID:24100448 PMID:28492532

NCBI chr11:33,024,376...33,125,931
Ensembl chr11:33,024,411...33,125,931

G

dual specificity tyrosine phosphorylation regulated kinase 1A

ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chr11:33,890,706...34,009,420
Ensembl chr11:33,890,490...34,009,420

G

exosomal polycystin 1 interacting protein

ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chr11:30,307,842...30,325,829
Ensembl chr11:30,310,350...30,325,439

G

eva-1 homolog C

ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chr11:30,089,510...30,163,596
Ensembl chr11:30,089,365...30,163,596

G

phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase

ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chr11:30,864,896...30,891,125
Ensembl chr11:30,865,889...30,891,125

G

holocarboxylase synthetase

ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chr11:33,455,806...33,635,197
Ensembl chr11:33,455,809...33,624,222

G

hormonally upregulated Neu-associated kinase

ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chr11:29,641,122...29,758,392
Ensembl chr11:29,640,775...29,757,526

G

interferon alpha and beta receptor subunit 1

ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chr11:30,725,774...30,752,227
Ensembl chr11:30,725,790...30,749,979

G

interferon alpha and beta receptor subunit 2

ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chr11:30,613,576...30,645,958
Ensembl chr11:30,613,767...30,668,124

G

interferon gamma receptor 2

ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chr11:30,779,733...30,798,005
Ensembl chr11:30,779,733...30,798,005

G

interleukin 10 receptor subunit beta

ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chr11:30,646,494...30,668,081
Ensembl chr11:30,652,096...30,668,074

G

intersectin 1

ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chr11:30,978,590...31,160,645
Ensembl chr11:30,978,590...31,160,645

G

potassium voltage-gated channel subfamily E regulatory subunit 1

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:17237124 PMID:23512985 PMID:28492532 PMID:32581362

NCBI chr11:31,580,951...31,594,116
Ensembl chr11:31,580,742...31,593,901

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:17237124 PMID:18478040 PMID:18487507 PMID:19357396 PMID:19679353 More...

NCBI chr11:31,517,176...31,530,026
Ensembl chr11:31,295,614...31,530,043

G

potassium inwardly-rectifying channel, subfamily J, member 6

ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chr11:34,061,702...34,308,758
Ensembl chr11:34,061,708...34,308,758

G

microRNA 802

ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1

PMID:25741868 PMID:34355501

NCBI chr11:32,626,525...32,626,620
Ensembl chr11:32,626,525...32,626,620

G

MIS18 kinetochore protein A

ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chr11:29,968,030...29,981,058
Ensembl chr11:29,967,701...29,981,062

G

MORC family CW-type zinc finger 3

ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1

PMID:17237124 PMID:18723428 PMID:23512985 PMID:24100448 PMID:28492532

NCBI chr11:33,151,906...33,194,650
Ensembl chr11:33,152,025...33,194,646

G

melanocortin 2 receptor accessory protein

ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chr11:29,991,974...30,003,024
Ensembl chr11:29,992,034...30,003,024

G

mitochondrial ribosomal protein S6

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:17237124 PMID:23512985 PMID:28492532 PMID:32581362

NCBI chr11:31,295,358...31,348,483
Ensembl chr11:31,295,614...31,348,484

G

oligodendrocyte transcription factor 1

ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chr11:30,514,379...30,516,521
Ensembl chr11:30,514,379...30,516,521

G

oligodendrocyte transcription factor 2

ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chr11:30,475,510...30,478,886
Ensembl chr11:30,475,398...30,480,152

G

PAX3 and PAX7 binding protein 1

ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chr11:30,272,037...30,301,504
Ensembl chr11:30,272,037...30,301,648

G

phosphatidylinositol glycan anchor biosynthesis, class P

ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chr11:33,682,943...33,689,111
Ensembl chr11:33,682,948...33,689,321

G

regulator of calcineurin 1

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:17237124 PMID:23512985 PMID:28492532 PMID:32581362

NCBI chr11:31,622,208...31,702,150
Ensembl chr11:31,622,210...31,702,045

G

ripply transcriptional repressor 3

ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chr11:33,648,471...33,656,587
Ensembl chr11:33,648,486...33,656,584

G

RUNX family transcription factor 1

ClinVar Annotator: match by term: Familial platelet disorder with associated myeloid malignancy | ClinVar Annotator: match by term: Familial thrombocytopenia with propensity to acute myelogenous leukemia | 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 | ClinVar Annotator: match by term: Platelet disorder, Aspirin-like
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:1958483 PMID:9536098 PMID:9606182 PMID:9837750 PMID:10068652 More...

NCBI chr11:31,839,880...32,074,427
Ensembl chr11:31,843,764...32,074,542

G

SR-related CTD-associated factor 4

ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chr11:29,460,479...29,521,153
Ensembl chr11:29,465,106...29,521,153

G

SET domain containing 4

ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1

PMID:17237124 PMID:18723428 PMID:23512985 PMID:24100448 PMID:25741868 More...

NCBI chr11:32,829,509...32,859,162
Ensembl chr11:32,838,063...32,858,243

G

SIM bHLH transcription factor 2

ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chr11:33,414,218...33,453,663
Ensembl chr11:33,414,218...33,453,663

G

solute carrier family 5 member 3

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:17237124 PMID:23512985 PMID:28492532 PMID:32581362

NCBI chr11:31,313,847...31,316,293
Ensembl chr11:31,295,476...31,318,883

G

small integral membrane protein 11

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:17237124 PMID:23512985 PMID:28492532 PMID:32581362

NCBI chr11:31,533,257...31,543,002
Ensembl chr11:31,532,764...31,543,002

G

superoxide dismutase 1

ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249

G

SON DNA and RNA binding protein

ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chr11:30,850,890...30,923,167
Ensembl chr11:30,892,005...30,923,167

G

synaptojanin 1

ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chr11:30,192,629...30,269,447
Ensembl chr11:30,192,629...30,269,220

G

TIAM Rac1 associated GEF 1

ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chr11:29,031,347...29,380,153
Ensembl chr11:29,031,348...29,159,901

G

transmembrane protein 50B

ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chr11:30,804,835...30,837,675
Ensembl chr11:30,804,837...30,837,661

G

tetratricopeptide repeat domain 3

ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chr11:33,689,119...33,788,976
Ensembl chr11:33,688,952...33,788,975

G

URB1 ribosome biogenesis homolog

ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chr11:30,004,539...30,065,315
Ensembl chr11:30,004,539...30,065,363

G

VPS26 endosomal protein sorting factor C

ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chr11:33,813,467...33,841,883
Ensembl chr11:33,792,389...33,841,447

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 4A

ClinVar Annotator: match by term: Deficiency of phospholipase A2, group IVA

PMID:18451993 PMID:23268370 PMID:25102815 PMID:25741868 PMID:28492532

NCBI chr13:61,877,818...62,022,261
Ensembl chr13:61,877,813...62,022,266

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 chr 7:109,343,718...109,424,457
Ensembl chr 7:109,343,706...109,424,457

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 chr10:87,408,532...87,426,055
Ensembl chr10:87,408,536...87,426,168

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 chr10:89,509,917...89,564,679
Ensembl chr10:89,509,989...89,564,679

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 chr10:89,509,917...89,564,679
Ensembl chr10:89,509,989...89,564,679

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

RGD

NCBI chr 2:46,520,345...46,621,487
Ensembl chr 2:46,523,948...46,621,481

G

integrin subunit alpha 2b

DNA:insertion/deletion:exon
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
CTD Direct Evidence: marker/mechanism
DNA:deletion:exon

ClinVar
CTD
RGD

PMID:1317725 PMID:1638023 PMID:1926040 PMID:2014236 PMID:7508443 More...

RGD:10755476, RGD:10755480

NCBI chr10:87,408,532...87,426,055
Ensembl chr10:87,408,536...87,426,168

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
OMIM:273800
CTD Direct Evidence: marker/mechanism

ClinVar
MouseDO
CTD
RGD

PMID:1371279 PMID:1430225 PMID:1438206 PMID:1602006 PMID:2014236 More...

NCBI chr10:89,509,917...89,564,679
Ensembl chr10:89,509,989...89,564,679

G

spastin

ClinVar Annotator: match by term: BLEEDING DISORDER, PLATELET-TYPE, 2

PMID:11015453 PMID:11809724 PMID:15248095 PMID:15326248 PMID:16832076 More...

NCBI chr 6:21,055,349...21,106,586
Ensembl chr 6:21,055,349...21,107,954

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 8:110,635,276...110,686,417
Ensembl chr 8:110,635,710...110,686,417

G

growth factor independent 1B transcriptional repressor

DNA:nonsense mutation:c.859C>T, p.Gln287X(human)

RGD

NCBI chr 3:11,940,232...11,952,989
Ensembl chr 3:11,940,233...11,952,942

G

neurobeachin-like 2

ClinVar Annotator: match by term: Gray platelet syndrome | ClinVar Annotator: match by term: NBEAL2-related condition
OMIM:139090
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
MouseDO
CTD

PMID:21765411 PMID:21765412 PMID:21765413 PMID:25741868 PMID:28492532 More...

NCBI chr 8:110,603,220...110,633,612
Ensembl chr 8:110,599,389...110,633,707

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:117,378,123...117,382,620
Ensembl chr X:117,375,525...117,382,787

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 chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836

G

C-C motif chemokine ligand 2

protein:increased expression:plasma (rat)

RGD

NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226

G

C-C motif chemokine ligand 3

RGD

NCBI chr10:68,451,388...68,452,938
Ensembl chr10:68,451,388...68,452,938

G

CD36 molecule

RGD

NCBI chr 4:17,317,343...17,410,084
Ensembl chr 4:17,354,466...17,513,903

G

CD46 molecule

susceptibility

DNA:frameshift mutation:cds:p.N233X3 (human)
DNA:mutations:multiple (human)
DNA:deletion, missense mutation:cds:p.D237_S238del, p.S206P (human)

RGD

PMID:14615110 PMID:16189652 PMID:14566051

RGD:11352767, RGD:11531138, RGD:11352770

NCBI chr13:106,575,586...106,606,325
Ensembl chr13:106,574,858...106,660,445

G

complement factor H

DNA:mutations, polymorphisms:promoter, exon:multiple

NCBI chr13:51,512,376...51,613,829
Ensembl chr13:51,511,828...51,613,838

G

diacylglycerol kinase epsilon

ClinVar Annotator: match by term: Hemolytic-uremic syndrome

NCBI chr10:73,853,030...73,877,334
Ensembl chr10:73,855,583...73,877,100

G

erythropoietin

CTD Direct Evidence: therapeutic

NCBI chr12:19,204,258...19,207,948
Ensembl chr12:19,204,508...19,207,946

G

coagulation factor II, thrombin

associated with diarrhea;protein:increased expression:plasma (human)

RGD

NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486

G

Fos proto-oncogene, AP-1 transcription factor subunit

RGD

NCBI chr 6:105,121,170...105,124,036
Ensembl chr 6:105,121,170...105,124,036

G

haptoglobin

RGD

NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523

G

interleukin 1 alpha

CTD Direct Evidence: marker/mechanism

NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822

G

interleukin 1 beta

CTD Direct Evidence: marker/mechanism

NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415

G

interleukin 1 receptor-like 1

severity

associated with Escherichia Coli Infections;

RGD

NCBI chr 9:42,661,694...42,727,266
Ensembl chr 9:42,697,192...42,727,256

G

interleukin 1 receptor antagonist

protein:increased concentration:serum (human)

RGD

PMID:9802632 PMID:12373296

RGD:6909134, RGD:6909171

NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445

G

interleukin 6

CTD Direct Evidence: marker/mechanism

NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178

G

mannose binding lectin 2

treatment

RGD

NCBI chr 1:228,016,439...228,024,736

G

NAD(P)H quinone dehydrogenase 1

CTD Direct Evidence: marker/mechanism

NCBI chr19:35,295,633...35,310,528
Ensembl chr19:35,295,573...35,310,557

G

phospholipase A2 group VII

severity

associated with Escherichia coli Infections; DNA:transversion mutation: :994 G>T (human)

RGD

NCBI chr 9:17,362,214...17,404,476
Ensembl chr 9:17,362,225...17,404,476

G

plasminogen activator, tissue type

associated with Escherichia coli Infections;protein:increased expression:plasma (human)

RGD

NCBI chr16:69,240,582...69,265,177
Ensembl chr16:69,240,585...69,268,223

G

thrombomodulin

RGD

NCBI chr 3:135,863,366...135,867,018
Ensembl chr 3:135,862,835...135,867,193

G

tumor necrosis factor

CTD Direct Evidence: marker/mechanism

NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629

G

tRNA splicing endonuclease subunit 2

ClinVar Annotator: match by term: Hemolytic-uremic syndrome

NCBI chr 4:148,602,805...148,638,219
Ensembl chr 4:148,602,863...148,638,215

Heparin-induced Thrombocytopenia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

Fc gamma receptor 2A

RGD

NCBI chr13:83,280,782...83,297,535
Ensembl chr13:83,280,784...83,295,967

G

Fc gamma receptor 3A

susceptibility

DNA:SNP:cds:p.V158F(human)

RGD

NCBI chr13:83,249,905...83,259,921
Ensembl chr13:83,249,872...83,259,921

G

interleukin 10

no_association

DNA:repeats, haplotype:promoter
DNA:SNPs:promoter:rs1800896 (-1082G/A), rs1800871 (-819C/T), rs1800872 (-592C/A) (human)

RGD

PMID:22239992 PMID:22239992

RGD:11049164, RGD:11049164

NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313

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
DNA:duplication, deletions:introns, exons: (mouse)

PMID:16507770 PMID:23403622 PMID:24033266 PMID:25741868 PMID:28492532 More...

RGD:1578409, RGD:11087577, RGD:11087576

NCBI chr 2:25,600,069...25,800,937
Ensembl chr 2:25,600,040...25,800,935

G

adaptor related protein complex 3 subunit delta 1

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome

NCBI chr 7:8,970,249...9,005,651
Ensembl chr 7:8,970,291...9,005,643

G

biogenesis of lysosomal organelles complex-1, subunit 3

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome

PMID:25741868 PMID:31064749

NCBI chr 1:79,155,873...79,158,247
Ensembl chr 1:79,155,693...79,158,505

G

biogenesis of lysosomal organelles complex 1 subunit 4

NCBI chr14:74,043,025...74,044,325
Ensembl chr14:74,043,015...74,044,531

G

biogenesis of lysosomal organelles complex 1 subunit 5

ClinVar Annotator: match by term: Hermansky-Pudlak syndrome

MouseDO
ClinVar

NCBI chr17:26,171,965...26,197,276
Ensembl chr17:26,172,018...26,197,251

G

biogenesis of lysosomal organelles complex 1 subunit 6

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome

PMID:10610180 PMID:21665000 PMID:22461475 PMID:25741868 PMID:26575419 More...

NCBI chr 3:109,816,397...109,826,528
Ensembl chr 3:109,816,366...109,828,308

G

C-C motif chemokine ligand 5

protein:increased secretion:lung, alveolar macrophage (human)

RGD

NCBI chr10:68,322,826...68,327,380
Ensembl chr10:68,322,829...68,327,377

G

ceruloplasmin

ClinVar Annotator: match by term: Hermansky-Pudlak syndrome

PMID:11590544 PMID:16199547 PMID:18414213 PMID:24033266 PMID:25741868 More...

NCBI chr 2:102,439,433...102,498,075
Ensembl chr 2:102,439,624...102,498,075

G

C-X-C motif chemokine receptor 4

disease_progression

RGD

NCBI chr13:40,077,976...40,081,883
Ensembl chr13:40,077,976...40,081,883

G

dystrobrevin binding protein 1

DNA:deletion:intron, exon
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome
CTD Direct Evidence: marker/mechanism

ClinVar
CTD
RGD

PMID:24033266 PMID:25741868 PMID:28492532 PMID:12923531

NCBI chr17:19,685,218...19,776,668
Ensembl chr17:19,685,215...19,776,661

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 chr 1:241,551,180...241,577,292
Ensembl chr 1:241,551,175...241,577,268

G

HPS3, biogenesis of lysosomal organelles complex 2 subunit 1

DNA:deletion:
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome
CTD Direct Evidence: marker/mechanism

ClinVar
CTD
RGD

PMID:11590544 PMID:16199547 PMID:17933573 PMID:18414213 PMID:24033266 More...

NCBI chr 2:102,484,574...102,527,580
Ensembl chr 2:102,484,574...102,526,047

G

HPS4, biogenesis of lysosomal organelles complex 3 subunit 2

ClinVar Annotator: match by term: Hermansky-Pudlak syndrome
CTD Direct Evidence: marker/mechanism
DNA:nonsense,frameshift,insertion mutations:cds:
DNA:nonsense mutation:exon: c.541C>T(p.Q181X) (rs119471022)

ClinVar
CTD
RGD

PMID:12664304 PMID:24033266 PMID:25741868 PMID:26575419 PMID:28492532 More...

RGD:1599546, RGD:11354897, RGD:11353873

NCBI chr12:44,264,037...44,294,791
Ensembl chr12:44,264,037...44,294,632

G

HPS5, biogenesis of lysosomal organelles complex 2 subunit 2

DNA:mutations:multiple:
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome

CTD
ClinVar
RGD

PMID:12548288 PMID:15296495 PMID:16199547 PMID:21833017 PMID:23607980 More...

NCBI chr 1:97,281,626...97,320,945
Ensembl chr 1:97,247,598...97,321,019

G

HPS6, biogenesis of lysosomal organelles complex 2 subunit 3

ClinVar Annotator: match by term: Hermansky-Pudlak syndrome
CTD Direct Evidence: marker/mechanism
DNA:mutations:multiple:

ClinVar
CTD
RGD

PMID:12548288 PMID:17041891 PMID:19843503 PMID:24033266 PMID:25741868 More...

RGD:632833, RGD:11073544

NCBI chr 1:244,853,256...244,855,865
Ensembl chr 1:244,853,194...244,855,883

G

KxDL motif containing 1

NCBI chr16:18,895,343...18,916,266
Ensembl chr16:18,900,616...18,920,807

G

RAB38, member RAS oncogene family

RGD

NCBI chr 1:142,182,566...142,262,923
Ensembl chr 1:142,182,556...142,262,924

G

Rab38, member of RAS oncogene family, ruby allele

RGD

G

Rab geranylgeranyltransferase subunit alpha

NCBI chr15:29,206,328...29,213,398
Ensembl chr15:29,206,157...29,213,348

G

solute carrier family 7 member 11

NCBI chr 2:134,382,002...134,517,622
Ensembl chr 2:133,963,107...134,517,536

G

VPS33A core subunit of CORVET and HOPS complexes

NCBI chr12:33,024,596...33,051,399
Ensembl chr12:33,024,650...33,051,393

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 2:25,600,069...25,800,937
Ensembl chr 2:25,600,040...25,800,935

G

adaptor related protein complex 3 subunit delta 1

OMIM:203300

NCBI chr 7:8,970,249...9,005,651
Ensembl chr 7:8,970,291...9,005,643

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 chr 3:109,816,397...109,826,528
Ensembl chr 3:109,816,366...109,828,308

G

ceruloplasmin

ClinVar Annotator: match by term: Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells

PMID:25741868 PMID:28492532

NCBI chr 2:102,439,433...102,498,075
Ensembl chr 2:102,439,624...102,498,075

G

HPS1, biogenesis of lysosomal organelles complex 3 subunit 1

DNA:duplication:exon
ClinVar Annotator: match by term: Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells | ClinVar Annotator: match by term: HPS1-related condition | ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 1
OMIM:203300
CTD Direct Evidence: marker/mechanism

ClinVar
MouseDO
CTD
OMIM
RGD

PMID:8274781 PMID:8896559 PMID:9345105 PMID:9497254 PMID:9536098 More...

NCBI chr 1:241,551,180...241,577,292
Ensembl chr 1:241,551,175...241,577,268

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 2:102,484,574...102,527,580
Ensembl chr 2:102,484,574...102,526,047

G

RAB27A, member RAS oncogene family

OMIM:203300

NCBI chr 8:73,782,730...73,836,630
Ensembl chr 8:73,782,694...73,847,829

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 chr 7:8,970,249...9,005,651
Ensembl chr 7:8,970,291...9,005,643

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 chr17:26,171,965...26,197,276
Ensembl chr17:26,172,018...26,197,251

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 2:26,619,336...26,646,050
Ensembl chr 2:26,619,339...26,645,952

G

adaptor related protein complex 3 subunit beta 1

ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2
OMIM:608233
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
MouseDO
CTD

PMID:8042664 PMID:9536098 PMID:10024875 PMID:11809908 PMID:14566336 More...

NCBI chr 2:25,600,069...25,800,937
Ensembl chr 2:25,600,040...25,800,935

G

adaptor related protein complex 3 subunit delta 1

OMIM:608233
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2

MouseDO
ClinVar

NCBI chr 7:8,970,249...9,005,651
Ensembl chr 7:8,970,291...9,005,643

G

arylsulfatase B

ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2

PMID:16507770 PMID:23403622 PMID:28492532

NCBI chr 2:25,002,210...25,162,675
Ensembl chr 2:25,002,346...25,162,671

G

corticotropin releasing hormone binding protein

ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2

PMID:16507770 PMID:23403622 PMID:28492532

NCBI chr 2:26,692,403...26,704,710
Ensembl chr 2:26,692,403...26,704,710

G

F2R like trypsin receptor 1

ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2

PMID:16507770 PMID:23403622 PMID:28492532

NCBI chr 2:26,772,274...26,785,226
Ensembl chr 2:26,772,278...26,785,226

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 2:102,484,574...102,527,580
Ensembl chr 2:102,484,574...102,526,047

G

LHFPL tetraspan subfamily member 2

ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2

PMID:16507770 PMID:23403622 PMID:28492532

NCBI chr 2:25,281,771...25,428,128
Ensembl chr 2:25,281,901...25,427,950

G

orthopedia homeobox

ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2

PMID:16507770 PMID:23403622 PMID:28492532

NCBI chr 2:26,108,158...26,116,359
Ensembl chr 2:26,108,163...26,116,359

G

phosphodiesterase 8B

ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2

PMID:16507770 PMID:23403622 PMID:28492532

NCBI chr 2:26,275,117...26,479,725
Ensembl chr 2:26,276,635...26,509,209

G

S100 calcium binding protein Z

ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2

PMID:16507770 PMID:23403622 PMID:28492532

NCBI chr 2:26,737,796...26,753,611
Ensembl chr 2:26,738,776...26,752,390

G

secretory carrier membrane protein 1

ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2

PMID:16507770 PMID:23403622 PMID:28492532

NCBI chr 2:25,433,958...25,516,734
Ensembl chr 2:25,433,959...25,516,673

G

tubulin folding cofactor A

ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2

PMID:16507770 PMID:23403622 PMID:28492532

NCBI chr 2:26,011,714...26,065,909
Ensembl chr 2:26,011,795...26,065,907

G

WD repeat domain 41

ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2

PMID:16507770 PMID:23403622 PMID:28492532

NCBI chr 2:26,222,797...26,273,849
Ensembl chr 2:26,224,495...26,273,836

G

zinc finger, BED-type containing 3

ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2

PMID:16507770 PMID:23403622 PMID:28492532

NCBI chr 2:26,587,620...26,600,177
Ensembl chr 2:26,587,572...26,600,386

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 2:102,439,433...102,498,075
Ensembl chr 2:102,439,624...102,498,075

G

HPS3, biogenesis of lysosomal organelles complex 2 subunit 1

ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 3
OMIM:614072
DNA:splice-site mutation:intron:1303+1G>A (human)

OMIM
ClinVar
MouseDO
RGD

PMID:9536098 PMID:11455388 PMID:11590544 PMID:16199547 PMID:17576681 More...

NCBI chr 2:102,484,574...102,527,580
Ensembl chr 2:102,484,574...102,526,047

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 chr 1:241,551,180...241,577,292
Ensembl chr 1:241,551,175...241,577,268

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
OMIM:614073

OMIM
ClinVar
MouseDO

PMID:11836498 PMID:12664304 PMID:15108212 PMID:16199547 PMID:18463683 More...

NCBI chr12:44,264,037...44,294,791
Ensembl chr12:44,264,037...44,294,632

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
OMIM:614074

OMIM
ClinVar
MouseDO

PMID:12548288 PMID:15296495 PMID:16199547 PMID:21833017 PMID:22995991 More...

NCBI chr 1:97,281,626...97,320,945
Ensembl chr 1:97,247,598...97,321,019

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
OMIM:614075

OMIM
ClinVar
MouseDO

PMID:12548288 PMID:17041891 PMID:19843503 PMID:20158590 PMID:24033266 More...

NCBI chr 1:244,853,256...244,855,865
Ensembl chr 1:244,853,194...244,855,883

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
OMIM:614076

OMIM
ClinVar
MouseDO

PMID:12923531 PMID:23364359 PMID:24033266 PMID:25741868 PMID:28259707 More...

NCBI chr17:19,685,218...19,776,668
Ensembl chr17:19,685,215...19,776,661

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

OMIM:614077
ClinVar Annotator: match by term: BLOC1S3-related condition | ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 8

OMIM
MouseDO
ClinVar

PMID:16385460 PMID:22709368 PMID:24033266 PMID:25741868 PMID:28492532 More...

NCBI chr 1:79,155,873...79,158,247
Ensembl chr 1:79,155,693...79,158,505

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
OMIM:614171

OMIM
ClinVar
MouseDO

PMID:9536098 PMID:10610180 PMID:16199547 PMID:17576681 PMID:21665000 More...

NCBI chr 3:109,816,397...109,826,528
Ensembl chr 3:109,816,366...109,828,308

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:16019263 PMID:16199547 PMID:17576681 PMID:25741868 More...

NCBI chr12:9,482,176...9,495,772
Ensembl chr12:9,480,831...9,495,747

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 chr 4:154,440,045...154,456,918
Ensembl chr 4:154,440,074...154,456,917

IVIC syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

spalt-like transcription factor 4

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Oculootoradial syndrome | ClinVar Annotator: match by term: SALL4-Related Spectrum Disorders

OMIM
CTD
ClinVar

PMID:7395922 PMID:17256792 PMID:25741868 PMID:28492532

NCBI chr 3:157,474,067...157,491,055
Ensembl chr 3:157,474,642...157,490,822

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 chr 8:25,382,271...25,406,404
Ensembl chr 8:25,382,273...25,406,414

G

acrosomal vesicle protein 1

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 8:36,404,394...36,409,971
Ensembl chr 8:36,404,394...36,424,959

G

ADAM metallopeptidase with thrombospondin type 1 motif, 15

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 8:29,307,864...29,331,249
Ensembl chr 8:29,307,865...29,331,249

G

ADAM metallopeptidase with thrombospondin type 1 motif, 8

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 8:29,349,078...29,368,413
Ensembl chr 8:29,349,114...29,368,404

G

amyloid beta precursor like protein 2

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 8:29,599,230...29,662,311
Ensembl chr 8:29,599,230...29,661,855

G

Rho GTPase activating protein 32

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 8:30,421,269...30,681,653
Ensembl chr 8:30,421,515...30,678,454

G

beta-1,3-glucuronyltransferase 1

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 8:25,087,123...25,114,692
Ensembl chr 8:25,087,547...25,113,395

G

BARX homeobox 2

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 8:30,251,132...30,319,105
Ensembl chr 8:30,251,132...30,319,013

G

coiled-coil domain containing 15

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 8:36,991,147...37,068,849
Ensembl chr 8:36,998,867...37,068,919

G

cell adhesion associated, oncogene regulated

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 8:33,775,123...33,861,635
Ensembl chr 8:33,806,183...33,859,033

G

checkpoint kinase 1

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 8:36,420,565...36,443,477
Ensembl chr 8:36,420,569...36,441,009

G

decapping enzyme, scavenger

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 8:33,468,669...33,524,407
Ensembl chr 8:33,415,671...33,524,389

G

DEAD-box helicase 25

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 8:33,894,224...33,910,377
Ensembl chr 8:33,894,232...33,921,764

G

EI24, autophagy associated transmembrane protein

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 8:36,494,289...36,510,653
Ensembl chr 8:36,494,289...36,510,571

G

endothelial cell adhesion molecule

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 8:37,238,228...37,249,217
Ensembl chr 8:37,238,287...37,249,215

G

ETS proto-oncogene 1, transcription factor

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 8:31,045,909...31,168,010
Ensembl chr 8:31,045,945...31,168,010

G

family with sequence similarity 118, member B

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 8:33,566,681...33,617,310
Ensembl chr 8:33,566,669...33,617,270

G

fasciculation and elongation protein zeta 1

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 8:36,544,462...36,589,684
Ensembl chr 8:36,544,535...36,589,683

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 chr 8:30,831,422...30,950,468
Ensembl chr 8:30,832,753...30,950,433

G

FAD-dependent oxidoreductase domain containing 1

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 8:33,551,010...33,560,227
Ensembl chr 8:33,551,013...33,560,192

G

galactosidase, beta 1-like 2

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 8:25,115,462...25,166,843
Ensembl chr 8:25,115,462...25,166,783

G

galactosidase, beta 1-like 3

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 8:25,179,165...25,220,904
Ensembl chr 8:25,179,165...25,220,904

G

hepatic and glial cell adhesion molecule

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 8:37,087,864...37,106,759
Ensembl chr 8:37,087,857...37,105,920

G

HYLS1, centriolar and ciliogenesis associated

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 8:33,912,692...33,921,760
Ensembl chr 8:33,912,692...33,921,760

G

immunoglobulin superfamily, member 9B

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 8:25,712,644...25,769,481
Ensembl chr 8:25,712,644...25,758,554

G

junctional adhesion molecule 3

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 8:25,508,461...25,569,306
Ensembl chr 8:25,507,057...25,569,355

G

potassium inwardly-rectifying channel, subfamily J, member 1

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 8:30,779,883...30,808,607
Ensembl chr 8:30,753,617...30,813,796

G

potassium inwardly-rectifying channel, subfamily J, member 5

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 8:30,724,923...30,753,083
Ensembl chr 8:30,724,925...30,753,518

G

kirre like nephrin family adhesion molecule 3

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 8:32,865,779...33,407,555
Ensembl chr 8:32,862,776...33,405,676

G

Myb/SANT DNA binding domain containing 2

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 8:37,200,890...37,234,691
Ensembl chr 8:37,200,260...37,234,476

G

non-SMC condensin II complex, subunit D3

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 8:25,437,067...25,506,375
Ensembl chr 8:25,437,123...25,506,373

G

nuclear factor related to kappa B binding protein

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 8:29,831,802...29,863,360
Ensembl chr 8:29,831,812...29,863,359

G

neurogranin

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 8:37,255,462...37,263,659
Ensembl chr 8:37,256,930...37,257,516

G

neurotrimin

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 8:27,376,582...28,366,604
Ensembl chr 8:27,377,773...28,366,595

G

opioid binding protein/cell adhesion molecule-like

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 8:26,788,988...27,304,551
Ensembl chr 8:26,192,841...27,300,620

G

olfactory receptor family 8 subfamily A member 1B

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 8:37,434,903...37,435,832
Ensembl chr 8:37,434,551...37,439,746

G

olfactory receptor family 8 subfamily B member 12

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 8:37,479,706...37,480,638
Ensembl chr 8:37,478,794...37,481,315

G

olfactory receptor family 8 subfamily B member 3

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 8:38,521,915...38,522,856
Ensembl chr 8:38,520,758...38,522,936

G

olfactory receptor family 8 subfamily B member 4

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 8:37,720,158...37,721,087

G

olfactory receptor family 8 subfamily B member 8

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 8:37,693,578...37,694,510
Ensembl chr 8:37,693,499...37,694,547

G

pannexin 3

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 8:37,366,758...37,377,640
Ensembl chr 8:37,366,862...37,377,640

G

prostate and testis expressed 1

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 8:34,048,410...34,050,867
Ensembl chr 8:34,048,617...34,050,848

G

prostate and testis expressed 2

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 8:34,019,123...34,026,850
Ensembl chr 8:34,024,114...34,050,517

G

prostate and testis expressed 3

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 8:34,014,164...34,016,175
Ensembl chr 8:34,014,164...34,016,175

G

prostate and testis expressed 4

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 8:33,988,812...33,991,552
Ensembl chr 8:33,988,812...33,991,552
Ensembl chr 8:33,988,812...33,991,552

G

PBX/knotted 1 homeobox 2

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 8:36,600,633...36,863,131
Ensembl chr 8:36,600,636...36,790,940

G

PR/SET domain 10

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 8:29,724,011...29,827,757
Ensembl chr 8:29,724,245...29,826,080

G

pseudouridine synthase 3

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 8:33,910,461...33,918,716
Ensembl chr 8:33,911,357...33,918,714

G

roundabout guidance receptor 3

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 8:37,133,542...37,151,674
Ensembl chr 8:37,133,916...37,151,315

G

roundabout guidance receptor 4

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 8:37,119,953...37,133,887
Ensembl chr 8:37,119,988...37,132,519

G

RNA pseudouridine synthase D4

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 8:33,617,384...33,626,873
Ensembl chr 8:33,617,379...33,626,873

G

sialic acid acetylesterase

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 8:37,318,724...37,354,004
Ensembl chr 8:37,318,747...37,353,996

G

solute carrier family 37 member 2

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 8:36,945,787...36,971,748
Ensembl chr 8:36,946,930...36,971,482

G

sorting nexin 19

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 8:28,829,881...28,867,600
Ensembl chr 8:28,829,886...28,867,061

G

sperm autoantigenic protein 17

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 8:37,307,432...37,318,519
Ensembl chr 8:37,307,557...37,318,639

G

spermatogenesis associated 19

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 8:25,814,922...25,820,663
Ensembl chr 8:25,814,905...25,820,670

G

SRP receptor subunit alpha

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 8:33,560,365...33,566,458
Ensembl chr 8:33,560,348...33,566,470

G

ST14 transmembrane serine protease matriptase

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 8:29,540,805...29,581,704
Ensembl chr 8:29,540,811...29,581,517

G

ST3 beta-galactoside alpha-2,3-sialyltransferase 4

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 8:33,415,666...33,465,319
Ensembl chr 8:33,415,671...33,524,389

G

STT3 oligosaccharyltransferase complex catalytic subunit A

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 8:36,443,623...36,483,111
Ensembl chr 8:36,446,788...36,483,293

G

transforming growth factor beta regulator 1

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 8:37,355,274...37,362,933
Ensembl chr 8:37,354,658...37,362,930

G

thymocyte nuclear protein 1

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 8:25,406,563...25,415,445
Ensembl chr 8:25,406,500...25,415,445

G

TIR domain containing adaptor protein

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 8:33,531,724...33,548,508
Ensembl chr 8:33,531,725...33,547,432

G

transmembrane protein 218

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 8:36,924,553...36,940,564
Ensembl chr 8:36,924,585...36,939,927

G

transmembrane protein 45b

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 8:29,865,276...29,910,453
Ensembl chr 8:29,865,278...29,910,453

G

VPS26 retromer complex component B

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 8:25,415,877...25,436,985
Ensembl chr 8:25,415,261...25,436,985

G

V-set and immunoglobulin domain containing 2

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 8:37,250,107...37,255,150
Ensembl chr 8:37,250,107...37,255,150

G

zinc finger and BTB domain containing 44

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 8:29,466,055...29,524,027
Ensembl chr 8:29,466,352...29,518,163

Kaposiform Hemangioendothelioma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

fibroblast growth factor 2

RGD

NCBI chr 2:120,236,328...120,290,673
Ensembl chr 2:120,236,328...120,291,221

G

G protein subunit alpha 14

ClinVar Annotator: match by term: Kaposiform hemangioendothelioma

PMID:25741868 PMID:27476652

NCBI chr 1:213,714,993...213,900,083
Ensembl chr 1:213,716,020...213,897,423

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

DNA:missense mutation:exon:p.R702H(human)
ClinVar Annotator: match by term: MYH9-related disorder | ClinVar Annotator: match by term: Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss | ClinVar Annotator: match by term: Sebastian platelet syndrome
OMIM:155100
CTD Direct Evidence: marker/mechanism
DNA:mutation:cds:p.R702C(mouse)
DNA:mutation:exon:p.E1841K(human)
DNA:missense mutations:exons:multiple

ClinVar
MouseDO
CTD
OMIM
RGD

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

RGD:6902926, RGD:11533924, RGD:11532766, RGD:6903235

NCBI chr 7:109,343,718...109,424,457
Ensembl chr 7:109,343,706...109,424,457

G

tubulin, beta 1 class VI

ClinVar Annotator: match by term: Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss

NCBI chr 3:163,247,990...163,257,460
Ensembl chr 3:163,247,967...163,256,063

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 2:46,520,345...46,621,487
Ensembl chr 2:46,523,948...46,621,481

G

integrin subunit alpha 2b

ClinVar Annotator: match by term: BAK PLATELET-SPECIFIC ANTIGEN

PMID:2014236 PMID:25741868 PMID:28492532

NCBI chr10:87,408,532...87,426,055
Ensembl chr10:87,408,536...87,426,168

G

integrin subunit beta 3

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Ca/Tu ALLOANTIGEN POLYMORPHISM | ClinVar Annotator: match by term: Fetal and neonatal alloimmune thrombocytopenia | ClinVar Annotator: match by term: Mo ALLOANTIGEN POLYMORPHISM | ClinVar Annotator: match by term: PEN(a)/PEN(b) ALLOANTIGEN POLYMORPHISM

PMID:1430225 PMID:2257303 PMID:7694683 PMID:8093349 PMID:8457479 More...

NCBI chr10:89,509,917...89,564,679
Ensembl chr10:89,509,989...89,564,679

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 2:25,600,069...25,800,937
Ensembl chr 2:25,600,040...25,800,935

G

adaptor related protein complex 3 subunit delta 1

OMIM:185050

NCBI chr 7:8,970,249...9,005,651
Ensembl chr 7:8,970,291...9,005,643

G

biogenesis of lysosomal organelles complex 1 subunit 5

OMIM:185050

NCBI chr17:26,171,965...26,197,276
Ensembl chr17:26,172,018...26,197,251

G

biogenesis of lysosomal organelles complex 1 subunit 6

OMIM:185050

NCBI chr 3:109,816,397...109,826,528
Ensembl chr 3:109,816,366...109,828,308

G

dedicator of cytokinesis 7

OMIM:185050

NCBI chr 5:113,599,371...113,782,871
Ensembl chr 5:113,600,198...113,782,813

G

dystrobrevin binding protein 1

OMIM:185050

NCBI chr17:19,685,218...19,776,668
Ensembl chr17:19,685,215...19,776,661

G

growth factor independent 1B transcriptional repressor

ClinVar Annotator: match by term: Storage pool disease of platelets

NCBI chr 3:11,940,232...11,952,989
Ensembl chr 3:11,940,233...11,952,942

G

HPS1, biogenesis of lysosomal organelles complex 3 subunit 1

OMIM:185050

NCBI chr 1:241,551,180...241,577,292
Ensembl chr 1:241,551,175...241,577,268

G

HPS3, biogenesis of lysosomal organelles complex 2 subunit 1

OMIM:185050

NCBI chr 2:102,484,574...102,527,580
Ensembl chr 2:102,484,574...102,526,047

G

HPS4, biogenesis of lysosomal organelles complex 3 subunit 2

OMIM:185050

NCBI chr12:44,264,037...44,294,791
Ensembl chr12:44,264,037...44,294,632

G

HPS5, biogenesis of lysosomal organelles complex 2 subunit 2

OMIM:185050

NCBI chr 1:97,281,626...97,320,945
Ensembl chr 1:97,247,598...97,321,019

G

HPS6, biogenesis of lysosomal organelles complex 2 subunit 3

ClinVar Annotator: match by term: Storage pool disease of platelets

PMID:19843503 PMID:25741868 PMID:27917594 PMID:28492532 PMID:30369044 More...

NCBI chr 1:244,853,256...244,855,865
Ensembl chr 1:244,853,194...244,855,883

G

lysosomal trafficking regulator

OMIM:185050

NCBI chr17:86,241,384...86,443,501
Ensembl chr17:86,241,384...86,443,480

G

RAB27A, member RAS oncogene family

OMIM:185050

NCBI chr 8:73,782,730...73,836,630
Ensembl chr 8:73,782,694...73,847,829

G

RAB27B, member RAS oncogene family

OMIM:185050

NCBI chr18:63,597,554...63,794,124
Ensembl chr18:63,600,937...63,757,180

G

RUNX family transcription factor 1

ClinVar Annotator: match by term: Storage pool disease of platelets

PMID:25741868 PMID:31064749

NCBI chr11:31,839,880...32,074,427
Ensembl chr11:31,843,764...32,074,542

G

solute carrier family 7 member 11

OMIM:185050

NCBI chr 2:134,382,002...134,517,622
Ensembl chr 2:133,963,107...134,517,536

platelet-type bleeding disorder 10

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

CD36 molecule

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Platelet-type bleeding disorder 10
OMIM:608404

CTD
OMIM
ClinVar
MouseDO

PMID:7533783 PMID:7686693 PMID:8696942 PMID:10890433 PMID:10946357 More...

NCBI chr 4:17,317,343...17,410,084
Ensembl chr 4:17,354,466...17,513,903

G

serpin family E member 1

severity

RGD

NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657

platelet-type bleeding disorder 11

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

glycoprotein VI

ClinVar Annotator: match by term: Platelet-type bleeding disorder 11
DNA:insertion:exon 6:c.711_712insA (human)

OMIM
ClinVar
RGD

PMID:19549989 PMID:19552682 PMID:25741868 PMID:28492532 PMID:29232918 More...

NCBI chr 1:69,429,232...69,492,709
Ensembl chr 1:69,465,789...69,491,326

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 chr 6:9,965,118...9,990,563
Ensembl chr 6:9,965,118...9,990,563

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
CTD Direct Evidence: marker/mechanism

ClinVar
CTD
OMIM
RGD

PMID:2955539 PMID:7929844 PMID:8428006 PMID:8613548 PMID:19828703 More...

NCBI chr 7:8,383,347...8,390,753
Ensembl chr 7:8,383,378...8,388,176

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 4:67,664,963...67,837,096
Ensembl chr 4:67,665,007...67,837,096

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 chr 6:98,998,553...99,093,334
Ensembl chr 6:98,998,556...99,093,251

G

Fli-1 proto-oncogene, ETS transcription factor

ClinVar Annotator: match by term: Bleeding disorder platelet type macrothrombocytopenia

PMID:23809206 PMID:26316623

NCBI chr 8:30,831,422...30,950,468
Ensembl chr 8:30,832,753...30,950,433

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
OMIM:187800
CTD Direct Evidence: marker/mechanism
DNA:mutation:cds:p.G13V(human)
DNA:missense mutation: :p.N2D (97A>G) (human)
DNA:mutations:promoter, exon:multiple

OMIM
ClinVar
MouseDO
CTD
RGD

PMID:1638023 PMID:9215749 PMID:9834222 PMID:10607701 PMID:14687991 More...

RGD:10766467, RGD:10755470, RGD:10755469, RGD:10755462

NCBI chr10:87,408,532...87,426,055
Ensembl chr10:87,408,536...87,426,168

G

integrin subunit beta 3

DNA:missense mutations, deletions, insertion:exon:multiple
ClinVar Annotator: match by term: Platelet-type bleeding disorder 16
OMIM:187800

ClinVar
MouseDO
RGD

PMID:1371279 PMID:9351872 PMID:19570064 PMID:19821948 PMID:20106508 More...

RGD:10755462, RGD:10755470, RGD:10755466

NCBI chr10:89,509,917...89,564,679
Ensembl chr10:89,509,989...89,564,679

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
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:1065298 PMID:5681484 PMID:20861919 PMID:23927492 PMID:24325358 More...

NCBI chr 3:11,940,232...11,952,989
Ensembl chr 3:11,940,233...11,952,942

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 chr 1:203,705,777...203,722,993
Ensembl chr 1:203,707,481...203,722,993

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 chr10:68,076,326...68,087,794

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 chr 8:30,831,422...30,950,468
Ensembl chr 8:30,832,753...30,950,433

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

ClinVar Annotator: match by term: Bleeding disorder, platelet-type, 22

PMID:25741868 PMID:30213874

NCBI chr 5:148,889,574...149,077,027
Ensembl chr 5:148,897,246...149,077,059

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 chr10:89,509,917...89,564,679
Ensembl chr10:89,509,989...89,564,679

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 chr16:17,684,415...17,698,456
Ensembl chr16:17,683,195...17,705,984

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

susceptibility

DNA:deletion
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
CTD Direct Evidence: marker/mechanism
DNA:missense mutation: :p.G233V (human)
DNA:missense mutation: :p.V239M (human)

OMIM
ClinVar
CTD
RGD

PMID:2052556 PMID:8384898 PMID:8486780 PMID:12038791 PMID:18492106 More...

RGD:10450803, RGD:10450823, RGD:10450814

NCBI chr10:55,352,938...55,355,804
Ensembl chr10:55,352,899...55,356,774

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 2:143,253,048...143,576,507
Ensembl chr 2:143,252,139...143,573,741

G

purinergic receptor P2Y12

OMIM:609821
ClinVar Annotator: match by term: Impaired ADP-induced platelet aggregation | ClinVar Annotator: match by term: Platelet-type bleeding disorder 8

OMIM
MouseDO
ClinVar

PMID:7706468 PMID:11196645 PMID:12578987 PMID:20966167 PMID:25741868 More...

NCBI chr 2:143,481,468...143,523,340
Ensembl chr 2:143,481,430...143,523,361

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 2:46,520,345...46,621,487
Ensembl chr 2:46,523,948...46,621,481

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 2:46,504,588...46,516,327
Ensembl chr 2:46,504,588...46,516,324

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 chr10:89,509,917...89,564,679
Ensembl chr10:89,509,989...89,564,679

Quebec platelet disorder

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

plasminogen activator, urokinase

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Quebec platelet disorder

CTD
OMIM
ClinVar

PMID:12689937 PMID:18988861 PMID:20007542 PMID:22102275 PMID:25741868 More...

NCBI chr15:3,456,230...3,462,732
Ensembl chr15:3,456,232...3,462,775

Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

homeobox A11

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: THROMBOCYTOPENIA, CONGENITAL, WITH RADIOULNAR SYNOSTOSIS

PMID:24239177 PMID:25741868

NCBI chr 4:81,342,527...81,346,189
Ensembl chr 4:81,342,528...81,346,232

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 4:81,342,527...81,346,189
Ensembl chr 4:81,342,528...81,346,232

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 4:45,640,624...45,673,708
Ensembl chr 4:45,634,918...45,673,705

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 2:112,909,353...113,464,583
Ensembl chr 2:112,909,321...113,464,590

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 chr 1:156,591,540...156,618,116
Ensembl chr 1:156,591,615...156,618,114

G

ras homolog family member G

ClinVar Annotator: match by term: Stormorken syndrome

NCBI chr 1:156,618,713...156,630,710
Ensembl chr 1:156,615,349...156,631,257

G

stromal interaction molecule 1

OMIM:185070
ClinVar Annotator: match by term: Stormorken syndrome | ClinVar Annotator: match by term: THROMBOCYTOPATHY, ASPLENIA, AND MIOSIS

OMIM
MouseDO
ClinVar

PMID:4085141 PMID:9536098 PMID:12623447 PMID:12745453 PMID:12944247 More...

NCBI chr 1:156,656,246...156,818,777
Ensembl chr 1:156,656,013...156,818,363

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 5:149,555,069...149,593,239
Ensembl chr 5:149,553,724...149,593,111

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 5:131,973,895...131,987,472
Ensembl chr 5:131,973,895...131,986,797

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 1:227,069,958...227,073,493
Ensembl chr 1:227,069,958...227,073,493

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 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189

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:24503134 PMID:25741868 PMID:28492532 PMID:31064749 PMID:32088153 More...

NCBI chr 6:9,965,118...9,990,563
Ensembl chr 6:9,965,118...9,990,563

G

ATP binding cassette subfamily G member 8

ClinVar Annotator: match by term: Thrombocytopenia

PMID:25741868 PMID:28492532 PMID:32935436

NCBI chr 6:9,945,629...9,964,912
Ensembl chr 6:9,945,629...9,964,912

G

acyl-CoA binding domain containing 5

ClinVar Annotator: match by term: Thrombocytopenia

PMID:25741868 PMID:28492532

NCBI chr17:85,206,178...85,248,909
Ensembl chr17:85,206,303...85,248,215

G

actin, beta

ClinVar Annotator: match by term: Thrombocytopenia

PMID:10411937 PMID:25255767 PMID:25741868 PMID:30315159

NCBI chr12:11,663,112...11,666,697
Ensembl chr12:11,663,109...11,672,877

G

actinin, alpha 1

ClinVar Annotator: match by term: Thrombocytopenia

PMID:23434115 PMID:24069336 PMID:25361813 PMID:25741868 PMID:28492532 More...

NCBI chr 6:98,998,553...99,093,334
Ensembl chr 6:98,998,556...99,093,251

G

activin A receptor like type 1

ClinVar Annotator: match by term: Thrombocytopenia

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

NCBI chr 7:132,239,200...132,256,592
Ensembl chr 7:132,239,729...132,256,591

G

albumin

CTD Direct Evidence: marker/mechanism

NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836

G

ankyrin repeat domain containing 26

ClinVar Annotator: match by term: Thrombocytopenia

PMID:10521306 PMID:20626622 PMID:21211618 PMID:21467542 PMID:22672365 More...

NCBI chr 4:151,670,604...151,740,032
Ensembl chr 4:151,672,037...151,739,968

G

adaptor related protein complex 3 subunit beta 1

ClinVar Annotator: match by term: Thrombocytopenia

PMID:25741868 PMID:28492532 PMID:32935436

NCBI chr 2:25,600,069...25,800,937
Ensembl chr 2:25,600,040...25,800,935

G

asparaginase

CTD Direct Evidence: marker/mechanism

NCBI chr 6:131,176,727...131,196,268
Ensembl chr 6:131,176,874...131,196,268

G

BRCA1 interacting helicase 1

human gene in a mouse model

RGD

NCBI chr10:70,907,266...71,031,502
Ensembl chr10:70,907,371...71,030,324

G

carbonyl reductase 1

ClinVar Annotator: match by term: Thrombocytopenia

NCBI chr11:32,860,571...32,862,981
Ensembl chr11:32,908,950...32,911,393
Ensembl chr11:32,908,950...32,911,393

G

C-C motif chemokine ligand 2

associated with Lupus Erythematosus, Systemic;DNA:snp:promoter:g.-2518A>G (human)

RGD

NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226

G

CD40 ligand

treatment

associated with Malaria

RGD

NCBI chr X:135,127,052...135,138,768
Ensembl chr X:135,126,969...135,138,306

G

checkpoint kinase 2

ClinVar Annotator: match by term: Thrombocytopenia

PMID:10617473 PMID:11053450 PMID:11479205 PMID:11719428 PMID:11967536 More...

NCBI chr12:45,788,823...45,821,382
Ensembl chr12:45,788,827...45,821,286

G

chloride intracellular channel 6

ClinVar Annotator: match by term: Thrombocytopenia

NCBI chr11:31,737,813...31,780,360
Ensembl chr11:31,737,813...31,780,061

G

collagen type V alpha 1 chain

ClinVar Annotator: match by term: Thrombocytopenia

PMID:28492532 PMID:29924831

NCBI chr 3:11,208,429...11,356,715
Ensembl chr 3:11,208,512...11,354,588

G

collagen type V alpha 2 chain

ClinVar Annotator: match by term: Thrombocytopenia

PMID:25741868 PMID:28492532

NCBI chr 9:47,448,741...47,598,134
Ensembl chr 9:47,448,736...47,598,154

G

colony stimulating factor 2

CTD Direct Evidence: marker/mechanism

NCBI chr10:38,386,945...38,388,926
Ensembl chr10:38,386,945...38,389,199

G

colony stimulating factor 3

CTD Direct Evidence: marker/mechanism

PMID:7543699 PMID:12085204

NCBI chr10:83,660,787...83,664,569
Ensembl chr10:83,661,207...83,663,603

G

cytochrome c, somatic

no_association

DNA:transition mutation:exon:p.G41S(human)
ClinVar Annotator: match by term: Thrombocytopenia
CTD Direct Evidence: marker/mechanism

ClinVar
CTD
RGD

PMID:18345000 PMID:22102269 PMID:24326104 PMID:25741868 PMID:28492532 More...

RGD:11352700, RGD:11352702

NCBI chr 4:79,651,894...79,653,994
Ensembl chr 4:79,651,378...79,654,054
Ensembl chr18:79,651,378...79,654,054

G

dynein cytoplasmic 2 light intermediate chain 1

ClinVar Annotator: match by term: Thrombocytopenia

PMID:25741868 PMID:28492532 PMID:31064749 PMID:32088153

NCBI chr 6:9,992,537...10,025,355
Ensembl chr 6:9,992,541...10,025,336

G

erythropoietin

CTD Direct Evidence: therapeutic

NCBI chr12:19,204,258...19,207,948
Ensembl chr12:19,204,508...19,207,946

G

ETS variant transcription factor 6

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Thrombocytopenia

PMID:9694803 PMID:15806161 PMID:18305557 PMID:21680795 PMID:21714648 More...

NCBI chr 4:166,849,031...167,085,211
Ensembl chr 4:166,847,686...167,084,992

G

coagulation factor X

ClinVar Annotator: match by term: Thrombocytopenia

NCBI chr16:76,468,834...76,488,141
Ensembl chr16:76,468,838...76,488,141

G

coagulation factor XI

ClinVar Annotator: match by term: Thrombocytopenia

PMID:2052060 PMID:2813350 PMID:9326232 PMID:10593931 PMID:15026311 More...

NCBI chr16:46,987,988...47,009,015
Ensembl chr16:46,986,107...47,008,437

G

coagulation factor V

ClinVar Annotator: match by term: Thrombocytopenia

PMID:25741868 PMID:28492532 PMID:34355501

NCBI chr13:76,513,509...76,583,106
Ensembl chr13:76,513,255...76,582,317

G

coagulation factor VII

treatment

human protein in a rat model

RGD

NCBI chr16:76,489,775...76,500,636
Ensembl chr16:76,489,717...76,500,610

G

Fc gamma receptor 2A

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:11588041 PMID:10201963

NCBI chr13:83,280,782...83,297,535
Ensembl chr13:83,280,784...83,295,967

G

fibrinogen alpha chain

treatment

ClinVar Annotator: match by term: Thrombocytopenia

PMID:25741868 PMID:28492532 PMID:2005585

NCBI chr 2:168,374,120...168,381,523
Ensembl chr 2:168,374,120...168,381,528

G

fibrinogen beta chain

ClinVar Annotator: match by term: Thrombocytopenia

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

NCBI chr 2:168,394,901...168,402,863
Ensembl chr 2:168,394,916...168,405,979

G

fibrinogen gamma chain

ClinVar Annotator: match by term: Thrombocytopenia

PMID:10688828 PMID:15795540 PMID:17938819 PMID:19300242 PMID:21228398 More...

NCBI chr 2:168,354,880...168,362,325
Ensembl chr 2:168,355,013...168,362,322

G

Fli-1 proto-oncogene, ETS transcription factor

ClinVar Annotator: match by term: Thrombocytopenia

PMID:24100448 PMID:32581362 PMID:15232614

NCBI chr 8:30,831,422...30,950,468
Ensembl chr 8:30,832,753...30,950,433

G

filamin A

ClinVar Annotator: match by term: Thrombocytopenia

PMID:18414213 PMID:21836662 PMID:25741868 PMID:26467025 PMID:28492532 More...

NCBI chr X:152,007,758...152,034,266
Ensembl chr X:152,007,758...152,031,052

G

GATA binding protein 1

OMIM:188000 | OMIM:273900 | OMIM:300367 | OMIM:313900 | OMIM:612004
ClinVar Annotator: match by term: Thrombocytopenia
CTD Direct Evidence: marker/mechanism

MouseDO
ClinVar
CTD
RGD

PMID:11418466 PMID:16966598 PMID:20301538 PMID:23278136 PMID:25741868 More...

NCBI chr X:14,529,706...14,537,530
Ensembl chr X:14,529,702...14,537,530

G

glucosylceramidase beta 1

ClinVar Annotator: match by term: Thrombocytopenia

PMID:1348297 PMID:1897529 PMID:1899336 PMID:1971142 PMID:2117855