Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

RGD DISEASE ONTOLOGY - ANNOTATIONS

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

Term:blood platelet disease
go back to main search page
Accession:DOID:2218 term browser 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: NCI:C131634;   OMIM:PS231200
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
blood platelet disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankrd26 ankyrin repeat domain containing 26 ISO ClinVar Annotator: match by term: Platelet disorder ClinVar PMID:23677566 PMID:25741868 PMID:31064749 NCBI chr 4:151,670,604...151,740,032
Ensembl chr 4:151,672,037...151,739,968
JBrowse link
G Cd36 CD36 molecule ISO CD36 deficiency, OMIM:608404, DNA:point mutation, frameshift mutation
ClinVar Annotator: match by term: Platelet disorder
ClinVar
RGD
PMID:7533783 PMID:7686693 PMID:10946357 PMID:11019968 PMID:11718687 More... RGD:1600629 NCBI chr 4:17,317,343...17,410,084
Ensembl chr 4:17,354,466...17,513,903
JBrowse link
G Fermt3 FERM domain containing kindlin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18278053 NCBI chr 1:204,189,483...204,207,683
Ensembl chr 1:204,189,484...204,207,587
JBrowse link
G Pla2g4a phospholipase A2 group IVA ISO CTD Direct Evidence: marker/mechanism CTD PMID:18451993 NCBI chr13:61,877,818...62,022,261
Ensembl chr13:61,877,813...62,022,266
JBrowse link
G Rasgrp1 RAS guanyl releasing protein 1 ISO Thrombopathia OMIA PMID:3082387 PMID:3488343 NCBI chr 3:104,168,549...104,230,107
Ensembl chr 3:104,170,013...104,230,056
JBrowse link
G Runx1 RUNX family transcription factor 1 ISO ClinVar Annotator: match by term: Platelet disorder ClinVar PMID:10508512 PMID:11830488 PMID:22012064 PMID:23848403 PMID:25741868 More... NCBI chr11:31,839,880...32,074,427
Ensembl chr11:31,843,764...32,074,542
JBrowse link
G Stxbp2 syntaxin binding protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30696774 NCBI chr12:1,689,364...1,701,145
Ensembl chr12:1,689,410...1,700,458
JBrowse link
G Tbxa2r thromboxane A2 receptor ISO DNA:mutation:cds:p.R60L(human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:7929844 PMID:19828703 PMID:7929844 RGD:1578439 NCBI chr 7:8,383,347...8,390,753
Ensembl chr 7:8,383,378...8,388,176
JBrowse link
atypical hemolytic-uremic syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamts13 ADAM metallopeptidase with thrombospondin type 1 motif, 13 ISO protein:decreased activity:serum (human)
ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome
ClinVar
RGD
PMID:12753286 PMID:17187257 PMID:17627784 PMID:23715102 PMID:25741868 More... RGD:10449096 NCBI chr 3:10,299,264...10,338,464
Ensembl chr 3:10,300,028...10,346,687
JBrowse link
G Baat bile acid CoA:amino acid N-acyltransferase ISO ClinVar Annotator: match by term: atypical hemolytic uremic syndrome ClinVar NCBI chr 5:63,851,668...63,860,641
Ensembl chr 5:63,850,705...63,860,685
JBrowse link
G C2 complement C2 ISO ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4
ClinVar PMID:2249879 PMID:6308626 PMID:8181962 PMID:16518403 PMID:16936732 More... NCBI chr20:3,951,474...3,970,376
Ensembl chr20:3,951,474...3,976,505
JBrowse link
G C3 complement C3 susceptibility ISO 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 OMIM:612925
DNA:missense mutations: :p.F603V, p.R1042L, p.I1157T (human)
ClinVar
CTD
OMIM
RGD
PMID:1976733 PMID:14639503 PMID:17634448 PMID:18325906 PMID:18796626 More... RGD:7364995, RGD:11040768 NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429
JBrowse link
G C3ar1 complement C3a receptor 1 ISO ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1 ClinVar NCBI chr 4:156,074,747...156,084,680
Ensembl chr 4:156,075,389...156,084,701
JBrowse link
G Cd46 CD46 molecule susceptibility
severity
ISO ClinVar Annotator: match by OMIM:612922
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2
ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2
ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome
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)
DNA:mutations:cds:multiple (human)
ClinVar
OMIM
CTD
RGD
PMID:270646 PMID:3480783 PMID:9551389 PMID:10528197 PMID:14566051 More... RGD:11352810, RGD:11040768, RGD:11352768, RGD:11038684 NCBI chr13:106,575,586...106,606,325
Ensembl chr13:106,574,858...106,660,445
JBrowse link
G Cfb complement factor B susceptibility ISO DNA, protein:mutations:cds: c.858C>G, F286L, c.967A>G, K323E (human)
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
ClinVar
OMIM
CTD
RGD
PMID:2249879 PMID:6308626 PMID:7452889 PMID:8181962 PMID:16518403 More... RGD:7242707, RGD:11040768 NCBI chr20:3,970,643...3,976,510
Ensembl chr20:3,951,474...3,976,505
JBrowse link
G Cfh complement factor H susceptibility ISO
IMP
DNA:missense mutation
ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical
ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome
CTD Direct Evidence: marker/mechanism
DNA:nonsense mutations, missense mutations, splice-site mutation: :multiple
ClinVar Annotator: match by OMIM:235400
DNA:deletion:Cds:
DNA:SNPs,Haplotype::
ClinVar
OMIM
CTD
RGD
PMID:646435 PMID:8072530 PMID:9551389 PMID:9811382 PMID:9848786 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
JBrowse link
G Cfhr1 complement factor H-related 1 susceptibility ISO ClinVar Annotator: match by OMIM:235400
ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to
DNA:deletion
ClinVar
CTD
OMIM
RGD
PMID:16998489 PMID:17367211 PMID:18006700 PMID:20843825 PMID:25741868 More... RGD:11041162 NCBI chr13:51,395,583...51,410,571
Ensembl chr13:51,369,211...51,410,592
JBrowse link
G Cfi complement factor I susceptibility ISO ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3
ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:612923
ClinVar
CTD
OMIM
RGD
PMID:15173250 PMID:16621965 PMID:18557729 PMID:18825487 PMID:19877009 More... RGD:6906889 NCBI chr 2:218,389,079...218,430,565
Ensembl chr 2:218,387,990...218,430,561
JBrowse link
G Col4a5 collagen type IV alpha 5 chain ISO ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome ClinVar PMID:7599631 PMID:7695699 PMID:8218237 PMID:8651296 PMID:8940267 More... NCBI chr  X:105,118,762...105,322,699
Ensembl chr  X:105,118,820...105,322,692
JBrowse link
G Dgke diacylglycerol kinase epsilon ISO ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome
ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 7
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: atypical hemolytic-uremic syndrome
ClinVar
CTD
PMID:23542698 PMID:24511134 PMID:24747643 PMID:25741868 PMID:29590070 NCBI chr10:73,852,679...73,877,334
Ensembl chr10:73,855,583...73,877,100
JBrowse link
G Mmachc metabolism of cobalamin associated C ISO ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome ClinVar 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
JBrowse link
G Plg plasminogen ISO ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome ClinVar NCBI chr 1:48,325,186...48,367,643
Ensembl chr 1:48,325,185...48,367,786
JBrowse link
G Smarcal1 Swi/SNF related matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 ISO ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome ClinVar PMID:28492532 PMID:28844315 NCBI chr 9:74,239,718...74,286,156
Ensembl chr 9:74,240,241...74,286,146
JBrowse link
G Thbd thrombomodulin susceptibility
no_association
severity
ISO ClinVar Annotator: match by OMIM:612926
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
ClinVar
OMIM
CTD
RGD
PMID:7811989 PMID:9157575 PMID:9236408 PMID:10460600 PMID:11245641 More... RGD:11038691, RGD:11038691, RGD:11038684 NCBI chr 3:135,863,366...135,867,018
Ensembl chr 3:135,862,835...135,867,193
JBrowse link
autoimmune thrombocytopenic purpura term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamts13 ADAM metallopeptidase with thrombospondin type 1 motif, 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19260037 NCBI chr 3:10,299,264...10,338,464
Ensembl chr 3:10,300,028...10,346,687
JBrowse link
G Alb albumin ISO RGD PMID:6683982 RGD:11036083 NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836
JBrowse link
G Cd40 CD40 molecule ISO protein:increased expression:peripheral blood, B lymphocyte (human) RGD PMID:17654056 RGD:11344977 NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
JBrowse link
G Cd40lg CD40 ligand treatment ISO 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:135,127,119...135,138,302
Ensembl chr  X:135,126,969...135,138,306
JBrowse link
G Cd86 CD86 molecule treatment ISO protein:increased expression:peripheral blood mononuclear cell (human) RGD PMID:19379594 PMID:20581660 RGD:11354966, RGD:11520785 NCBI chr11:64,142,193...64,200,816
Ensembl chr11:64,163,828...64,200,818
JBrowse link
G Dnmt3a DNA methyltransferase 3 alpha ISO mRNA:decreased expression:mononuclear cell RGD PMID:18683034 RGD:9588662 NCBI chr 6:26,791,517...26,902,161
Ensembl chr 6:26,822,609...26,896,687
JBrowse link
G Dnmt3b DNA methyltransferase 3 beta susceptibility ISO mRNA:decreased expression:mononuclear cell
DNA:SNP:promoter: -579G>T(human)
RGD PMID:18683034 PMID:23000068 RGD:9588662, RGD:9589094 NCBI chr 3:142,130,592...142,169,124
Ensembl chr 3:142,130,592...142,169,124
JBrowse link
G Fas Fas cell surface death receptor ISO protein:increased expression:serum: RGD PMID:10776692 RGD:11049162 NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
JBrowse link
G Fcgr2a Fc gamma receptor IIa no_association
susceptibility
treatment
ISO 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
JBrowse link
G Fcgr2b Fc gamma receptor IIb treatment
disease_progression
ISO 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...83,207,776
Ensembl chr13:83,193,163...83,207,778
JBrowse link
G Fcgr3a Fc gamma receptor IIIa treatment
susceptibility
ISO 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
JBrowse link
G Gp1ba glycoprotein Ib platelet subunit alpha ISO RGD PMID:16861348 RGD:10450841 NCBI chr10:55,352,938...55,355,804
Ensembl chr10:55,352,899...55,356,774
JBrowse link
G Il10 interleukin 10 disease_progression ISO DNA:SNP:promoter:-627C>A (human)
DNA:SNPs, haplotypes:promoter:-1082A>G, -819C>T, -592C>A (human)
RGD PMID:25051072 PMID:22677268 RGD:11041894, RGD:11046267 NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
JBrowse link
G Il18 interleukin 18 ISO protein:increased expression:plasma: RGD PMID:24801815 RGD:11073600 NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
JBrowse link
G Il1a interleukin 1 alpha ISO DNA:SNP:promoter:-899C>T (human) RGD PMID:21591983 RGD:11051966 NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
JBrowse link
G Il1rn interleukin 1 receptor antagonist susceptibility ISO DNA:repeats:: RGD PMID:20626741 RGD:11528541 NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
JBrowse link
G Il2 interleukin 2 susceptibility ISO DNA:polymorphism::-330T>G(human) RGD PMID:20626741 RGD:11528541 NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
JBrowse link
G Il4 interleukin 4 disease_progression ISO DNA:repeat:intron RGD PMID:25051072 RGD:11041894 NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
JBrowse link
G Itgb3 integrin subunit beta 3 ISO 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
JBrowse link
G Mir130a microRNA 130a ISO RNA:decreased expression:PBMC RGD PMID:24801815 RGD:11073600 NCBI chr 3:69,822,542...69,822,629
Ensembl chr 3:69,822,542...69,822,629
JBrowse link
G Mir3581 microRNA 3581 treatment ISO RGD PMID:23360331 RGD:10755694 NCBI chr 6:128,757,779...128,757,858
Ensembl chr 6:128,757,779...128,757,858
JBrowse link
G Mir409 microRNA 409 treatment ISO RGD PMID:23360331 RGD:10755694 NCBI chr 6:128,757,780...128,757,856
Ensembl chr 6:128,757,779...128,757,858
JBrowse link
G Plat plasminogen activator, tissue type ISO protein:increased expression:plasma (human) RGD PMID:2129164 RGD:11541072 NCBI chr16:69,240,582...69,265,177
Ensembl chr16:69,240,585...69,268,223
JBrowse link
G Ptpn22 protein tyrosine phosphatase, non-receptor type 22 no_association ISO 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
JBrowse link
G RT1-Bb RT1 class II, locus Bb treatment ISO DNA:polymorphisms:cds:HLA-DQB1*0401 (human) RGD PMID:10435723 RGD:11041758 NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
JBrowse link
G RT1-Db1 RT1 class II, locus Db1 treatment ISO DNA:polymorphisms:cds:HLA-DRB1*0901, HLA-DRB1*0410 (human) RGD PMID:10435723 RGD:11041758 NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
JBrowse link
G Socs1 suppressor of cytokine signaling 1 ISO ClinVar Annotator: match by term: Autoimmune thrombocytopenia ClinVar PMID:33087723 NCBI chr10:4,882,651...4,884,342
Ensembl chr10:4,882,560...4,884,383
JBrowse link
G Tgfb1 transforming growth factor, beta 1 disease_progression ISO mRNA:increased expression: :
protein:decreased expression:plasma:
RGD PMID:11886393 PMID:24763013 PMID:24801815 RGD:11073598, RGD:11073603, RGD:11073600 NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
JBrowse link
autosomal dominant macrothrombocytopenia TUBB1-related term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tubb1 tubulin, beta 1 class VI ISO ClinVar Annotator: match by term: Autosomal dominant macrothrombocytopenia TUBB1-related
ClinVar Annotator: match by term: MACROTHROMBOCYTOPENIA, AUTOSOMAL DOMINANT, TUBB1-RELATED
OMIM
ClinVar
PMID:18849486 PMID:24777453 PMID:25741868 PMID:31064749 PMID:32892537 More... NCBI chr 3:163,247,990...163,257,460
Ensembl chr 3:163,247,967...163,256,063
JBrowse link
autosomal dominant nonsyndromic deafness 17 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myh9 myosin, heavy chain 9 ISO ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 17
ClinVar Annotator: match by term: Deafness, autosomal dominant 17
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 17
OMIM
ClinVar
PMID:9390828 PMID:10973259 PMID:11023810 PMID:11590545 PMID:11752022 More... NCBI chr 7:109,343,718...109,424,457
Ensembl chr 7:109,343,706...109,424,457
JBrowse link
Bernard-Soulier syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gp1ba glycoprotein Ib platelet subunit alpha treatment ISO ClinVar Annotator: match by term: Bernard Soulier syndrome
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)
DNA:missense mutation: :p.V262G (c.785T>G) (human)
OMIM
ClinVar
RGD
PMID:8950770 PMID:9233564 PMID:9639514 PMID:25741868 PMID:28492532 More... RGD:10450843, RGD:10450834, RGD:10450833, RGD:10450819, RGD:10450809, RGD:10450798, RGD:10450796 NCBI chr10:55,352,938...55,355,804
Ensembl chr10:55,352,899...55,356,774
JBrowse link
G Gp1bb glycoprotein Ib platelet subunit beta severity ISO ClinVar Annotator: match by term: Bernard Soulier syndrome
ClinVar Annotator: match by term: Bernard-Soulier syndrome
DNA:missense mutation:exon:c.281A>G(p.D94G)(human)
DNA:deletion:cds:
DNA:mutations:cds:p.Y88C,A108P(human)
OMIM
ClinVar
RGD
PMID:10887115 PMID:25741868 PMID:31064749 PMID:32581362 PMID:28131619 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
JBrowse link
G Gp9 glycoprotein IX (platelet) severity ISO ClinVar Annotator: match by term: Bernard Soulier syndrome
ClinVar Annotator: match by term: Von Willebrand factor receptor deficiency
DNA:missense mutation:cds:c.182A>G(p.N61S)(human)
ClinVar Annotator: match by OMIM:231200
DNA:mutation:cds:p.C73Y(human)
OMIM
ClinVar
RGD
PMID:8049428 PMID:8481514 PMID:11167791 PMID:14510954 PMID:21173099 More... RGD:13464128, RGD:11040531 NCBI chr 4:120,235,539...120,236,874
Ensembl chr 4:120,235,421...120,237,110
JBrowse link
G Vwf von Willebrand factor ISO RGD PMID:14717981 RGD:1580643 NCBI chr 4:158,360,152...158,491,539
Ensembl chr 4:158,360,152...158,491,539
JBrowse link
Bernard-Soulier syndrome type A2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gp1ba glycoprotein Ib platelet subunit alpha ISO ClinVar Annotator: match by term: Bernard-Soulier syndrome, type A2, autosomal dominant
ClinVar Annotator: match by OMIM:153670
OMIM
ClinVar
PMID:1730088 PMID:7690774 PMID:11222377 PMID:25741868 PMID:31064749 NCBI chr10:55,352,938...55,355,804
Ensembl chr10:55,352,899...55,356,774
JBrowse link
Bernard-Soulier Syndrome, Autosomal Dominant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gp1ba glycoprotein Ib platelet subunit alpha ISO 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
JBrowse link
Bernard-Soulier Syndrome, Type A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gp1ba glycoprotein Ib platelet subunit alpha ISO ClinVar Annotator: match by term: Bernard-Soulier syndrome, type A1 ClinVar PMID:1901273 PMID:2308962 PMID:7690774 PMID:9233564 PMID:11222377 More... NCBI chr10:55,352,938...55,355,804
Ensembl chr10:55,352,899...55,356,774
JBrowse link
Bernard-Soulier Syndrome, Type B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gp1bb glycoprotein Ib platelet subunit beta ISO ClinVar Annotator: match by term: Macrothrombocytopenia, familial, Bernard-Soulier type
ClinVar Annotator: match by term: Bernard-Soulier syndrome, type B
ClinVar 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
JBrowse link
G Gp9 glycoprotein IX (platelet) ISO ClinVar Annotator: match by term: Macrothrombocytopenia, familial Bernard-Soulier type ClinVar PMID:8049428 PMID:8481514 PMID:14510954 PMID:25370924 PMID:25741868 More... NCBI chr 4:120,235,539...120,236,874
Ensembl chr 4:120,235,421...120,237,110
JBrowse link
Bernard-Soulier Syndrome, Type C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gp9 glycoprotein IX (platelet) ISO DNA:missense mutations:cds:p.D21G, p.N45S (human)
ClinVar Annotator: match by term: Bernard-Soulier syndrome type C
ClinVar
RGD
PMID:8049428 PMID:8481514 PMID:9163595 PMID:9886312 PMID:11167791 More... RGD:1599275 NCBI chr 4:120,235,539...120,236,874
Ensembl chr 4:120,235,421...120,237,110
JBrowse link
congenital amegakaryocytic thrombocytopenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mpl MPL proto-oncogene, thrombopoietin receptor ISO ClinVar Annotator: match by term: Congenital amegakaryocytic thrombocytopenia
ClinVar Annotator: match by OMIM:604498
OMIM
ClinVar
PMID:8073287 PMID:9536098 PMID:10077649 PMID:10971406 PMID:11071383 More... NCBI chr 5:131,973,897...131,987,472
Ensembl chr 5:131,973,895...131,986,797
JBrowse link
congenital disorder of glycosylation Ix term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Stt3b STT3 oligosaccharyltransferase complex catalytic subunit B ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1x
ClinVar Annotator: match by OMIM:615597
OMIM
ClinVar
PMID:23842455 PMID:25741868 PMID:28492532 NCBI chr 8:114,928,678...114,994,027
Ensembl chr 8:114,917,824...114,994,028
JBrowse link
Diarrhea prodrome + Hemolytic-Uremic Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gp1ba glycoprotein Ib platelet subunit alpha ISO associated with Escherichia Coli Infections;DNA:SNP:exon: (rs121908064) (human) RGD PMID:29216383 RGD:42722620 NCBI chr10:55,352,938...55,355,804
Ensembl chr10:55,352,899...55,356,774
JBrowse link
Drug-Induced Immune Thrombocytopenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc2 ATP binding cassette subfamily C member 2 susceptibility ISO associated with Carcinoma, Non-Small-Cell Lung;DNA:SNP, haplotype:promoter,cds: 3972C>T, -24C>T(human) RGD PMID:20943283 RGD:11080978 NCBI chr 1:242,664,657...242,723,239
Ensembl chr 1:242,664,657...242,723,238
JBrowse link
G Dpyd dihydropyrimidine dehydrogenase treatment ISO 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
JBrowse link
G Gstm1 glutathione S-transferase mu 1 susceptibility
treatment
ISO 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
JBrowse link
G Gstt1 glutathione S-transferase theta 1 treatment ISO associated with diffuse large B-cell lymphoma; DNA:deletion:cds: RGD PMID:20303013 RGD:10450835 NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585
JBrowse link
G Il1a interleukin 1 alpha treatment ISO 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
JBrowse link
G Il1b interleukin 1 beta treatment ISO associated with Glioblastoma; RGD PMID:1331350 RGD:10450883 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
JBrowse link
G Pecam1 platelet and endothelial cell adhesion molecule 1 severity ISO 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
JBrowse link
essential thrombocythemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atg2b autophagy related 2B ISO ClinVar Annotator: match by term: Essential thrombocythemia ClinVar NCBI chr 6:124,522,283...124,592,412
Ensembl chr 6:124,525,523...124,592,015
JBrowse link
G Bdkrb1 bradykinin receptor B1 ISO ClinVar Annotator: match by term: Essential thrombocythemia ClinVar NCBI chr 6:124,510,827...124,514,475
Ensembl chr 6:124,510,870...124,513,747
JBrowse link
G Bdkrb2 bradykinin receptor B2 ISO ClinVar Annotator: match by term: Essential thrombocythemia ClinVar NCBI chr 6:124,472,317...124,502,497
Ensembl chr 6:124,472,566...124,502,497
JBrowse link
G Calr calreticulin severity ISO ClinVar Annotator: match by term: Thrombocythemia 1
DNA:mutations:multiple (human)
ClinVar Annotator: match by OMIM:187950
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
JBrowse link
G Cd36 CD36 molecule ISO protein:increased expression:platelet, cell surface RGD PMID:8555064 RGD:11041099 NCBI chr 4:17,317,343...17,410,084
Ensembl chr 4:17,354,466...17,513,903
JBrowse link
G Cd40lg CD40 ligand ISO protein:increased expression:serum (human) RGD PMID:22196954 RGD:11344979 NCBI chr  X:135,127,119...135,138,302
Ensembl chr  X:135,126,969...135,138,306
JBrowse link
G Cux2 cut-like homeobox 2 ISO ClinVar Annotator: match by term: Thrombocythemia 1 ClinVar PMID:20404132 NCBI chr12:34,507,723...34,707,581
Ensembl chr12:34,520,959...34,705,806
JBrowse link
G Elane elastase, neutrophil expressed ISO protein:increased expression:plasma: RGD PMID:18768782 RGD:10450556 NCBI chr 7:9,817,251...9,819,174
Ensembl chr 7:9,817,252...9,819,100
JBrowse link
G Fgf2 fibroblast growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15682418 NCBI chr 2:120,236,328...120,290,673
Ensembl chr 2:120,236,328...120,291,221
JBrowse link
G Gskip GSK3B interacting protein ISO ClinVar Annotator: match by term: Essential thrombocythemia ClinVar NCBI chr 6:124,586,087...124,609,106
Ensembl chr 6:124,586,070...124,609,100
JBrowse link
G Jak2 Janus kinase 2 severity ISO DNA:mutation: :p.V617F (human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:15781101 PMID:15858187 PMID:16484586 PMID:16896569 PMID:19154659 More... RGD:10449178 NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189
JBrowse link
G LOC100909954 uncharacterized LOC100909954 ISO ClinVar Annotator: match by term: Essential thrombocythemia ClinVar NCBI chr 6:124,365,466...124,398,449 JBrowse link
G Mpl MPL proto-oncogene, thrombopoietin receptor ISO
ISS
DNA:missense mutation:cds:pS505N (human)
ClinVar Annotator: match by term: Thrombocythemia 1
ClinVar Annotator: match by term: Essential thrombocythemia
OMIM:187950 | OMIM:300331 | OMIM:601977 | OMIM:614521
mRNA, protein:decreased expression:blood, platelet (human)
ClinVar
MouseDO
RGD
PMID:14764528 PMID:15269348 PMID:15531462 PMID:17054430 PMID:18451306 More... RGD:10449014, RGD:10449016 NCBI chr 5:131,973,897...131,987,472
Ensembl chr 5:131,973,895...131,986,797
JBrowse link
G Myb MYB proto-oncogene, transcription factor ISS OMIM:187950 | OMIM:300331 | OMIM:601977 | OMIM:614521 MouseDO NCBI chr 1:15,939,771...15,973,367
Ensembl chr 1:15,939,761...15,973,057
JBrowse link
G Pdgfa platelet derived growth factor subunit A ISO CTD Direct Evidence: marker/mechanism CTD PMID:15682418 NCBI chr12:15,645,549...15,667,056
Ensembl chr12:15,645,541...15,666,497
JBrowse link
G Pdgfb platelet derived growth factor subunit B ISO CTD Direct Evidence: marker/mechanism CTD PMID:15682418 NCBI chr 7:111,539,444...111,557,984
Ensembl chr 7:111,540,345...111,557,984
JBrowse link
G Sh2b3 SH2B adaptor protein 3 ISO ClinVar Annotator: match by term: Idiopathic thrombocythemia
ClinVar Annotator: match by term: Essential thrombocythemia
ClinVar Annotator: match by OMIM:187950
OMIM
ClinVar
PMID:15705783 PMID:20404132 PMID:25741868 PMID:27651169 PMID:28484264 More... NCBI chr12:34,749,849...34,753,616
Ensembl chr12:34,731,911...34,753,616
JBrowse link
G Tcl1a Tcl1 family Akt coactivator A ISO ClinVar Annotator: match by term: Essential thrombocythemia ClinVar NCBI chr 6:124,125,032...124,131,025
Ensembl chr 6:124,125,032...124,131,025
JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15682418 NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
JBrowse link
G Thpo thrombopoietin ISO ClinVar Annotator: match by term: Thrombocythemia 1
ClinVar Annotator: match by OMIM:187950
DNA:mutation:splice junction:
OMIM
ClinVar
RGD
PMID:7772529 PMID:9425899 PMID:9694695 PMID:10583217 PMID:19553636 More... RGD:1580083 Ensembl chr11:80,182,820...80,188,167 JBrowse link
G Vcam1 vascular cell adhesion molecule 1 ISO protein:increased expression:serum: RGD PMID:24434346 RGD:11354980 NCBI chr 2:204,038,120...204,057,852
Ensembl chr 2:204,038,114...204,057,958
JBrowse link
G Vwf von Willebrand factor ISO RGD PMID:25876231 RGD:11073823 NCBI chr 4:158,360,152...158,491,539
Ensembl chr 4:158,360,152...158,491,539
JBrowse link
Evans Syndrome, Immunodeficiency, and Premature Immunosenescence associated with Tripeptidyl-Peptidase II Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tpp2 tripeptidyl peptidase 2 ISO ClinVar Annotator: match by term: Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ClinVar PMID:9536098 PMID:17576681 PMID:25414442 PMID:25640679 PMID:28492532 More... NCBI chr 9:46,046,712...46,128,157
Ensembl chr 9:46,046,632...46,128,157
JBrowse link
Familial Platelet Disorder with Associated Myeloid Malignancy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcne2 potassium voltage-gated channel subfamily E regulatory subunit 2 ISO ClinVar Annotator: match by term: Familial platelet disorder with associated myeloid malignancy ClinVar PMID:18478040 PMID:18487507 PMID:19357396 PMID:19679353 PMID:21626672 More... NCBI chr11:31,517,176...31,530,026
Ensembl chr11:31,295,614...31,530,043
JBrowse link
G Runx1 RUNX family transcription factor 1 ISO ClinVar Annotator: match by term: Familial platelet disorder with associated myeloid malignancy
ClinVar Annotator: match by term: Platelet disorder, Aspirin-like
ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
OMIM
ClinVar
PMID:9536098 PMID:9606182 PMID:9837750 PMID:10068652 PMID:10508512 More... NCBI chr11:31,839,880...32,074,427
Ensembl chr11:31,843,764...32,074,542
JBrowse link
Glanzmann's thrombasthenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Itga2 integrin subunit alpha 2 severity ISO RGD PMID:14687991 RGD:1582297 NCBI chr 2:46,520,345...46,621,487
Ensembl chr 2:46,523,948...46,621,481
JBrowse link
G Itga2b integrin subunit alpha 2b ISO ClinVar Annotator: match by term: Glanzmann thrombasthenia 1
ClinVar Annotator: match by term: BLEEDING DISORDER, PLATELET-TYPE, 2
ClinVar Annotator: match by term: Glanzmann's thrombasthenia
DNA:deletion:exon
DNA:insertion/deletion:exon
ClinVar Annotator: match by OMIM:273800
OMIM
ClinVar
RGD
PMID:1317725 PMID:1638023 PMID:1702098 PMID:1926040 PMID:2014236 More... RGD:10755480, RGD:10755476 NCBI chr10:87,408,532...87,426,055
Ensembl chr10:87,408,536...87,426,168
JBrowse link
G Itgb3 integrin subunit beta 3 ISO ClinVar Annotator: match by OMIM:273800
ClinVar Annotator: match by term: Glanzmann thrombasthenia
ClinVar Annotator: match by term: Glanzmann thrombasthenia type A
ClinVar Annotator: match by term: Glanzmann's thrombasthenia
ClinVar Annotator: match by term: BLEEDING DISORDER, PLATELET-TYPE, 2
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:1371279 PMID:1430225 PMID:1602006 PMID:2014236 PMID:2392682 More... RGD:10755474 NCBI chr10:89,509,917...89,564,679
Ensembl chr10:89,509,989...89,564,679
JBrowse link
gray platelet syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc12 coiled-coil domain containing 12 ISO ClinVar Annotator: match by term: Gray platelet syndrome ClinVar NCBI chr 8:110,635,276...110,686,417
Ensembl chr 8:110,635,710...110,686,417
JBrowse link
G Gfi1b growth factor independent 1B transcriptional repressor ISO DNA:nonsense mutation:c.859C>T, p.Gln287X(human) RGD PMID:24325358 RGD:11040508 NCBI chr 3:11,940,232...11,952,989
Ensembl chr 3:11,940,233...11,952,942
JBrowse link
G Nbeal2 neurobeachin-like 2 ISO ClinVar Annotator: match by term: Gray platelet syndrome
ClinVar Annotator: match by OMIM:139090
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
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
JBrowse link
hemolytic-uremic syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alb albumin ISO CTD Direct Evidence: marker/mechanism CTD PMID:6734075 NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 IEP protein:increased expression:plasma (rat) RGD PMID:10201001 RGD:11528527 NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
JBrowse link
G Ccl3 C-C motif chemokine ligand 3 ISO RGD PMID:17220320 RGD:7241820 NCBI chr10:68,451,388...68,452,938
Ensembl chr10:68,451,388...68,452,938
JBrowse link
G Cd36 CD36 molecule ISO RGD PMID:16197457 RGD:6893534 NCBI chr 4:17,317,343...17,410,084
Ensembl chr 4:17,354,466...17,513,903
JBrowse link
G Cd46 CD46 molecule susceptibility ISO 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
JBrowse link
G Cfh complement factor H ISO
ISS
DNA:mutations, polymorphisms:promoter, exon:multiple
OMIM:235400 | OMIM:612922 | OMIM:612923 | OMIM:612924 | OMIM:612925 | OMIM:612926
MouseDO
RGD
PMID:14583443 RGD:11041164 NCBI chr13:51,512,376...51,613,829
Ensembl chr13:51,511,828...51,613,838
JBrowse link
G Dgke diacylglycerol kinase epsilon ISO ClinVar Annotator: match by term: Hemolytic-uremic syndrome ClinVar PMID:25854283 NCBI chr10:73,852,679...73,877,334
Ensembl chr10:73,855,583...73,877,100
JBrowse link
G Epo erythropoietin ISO CTD Direct Evidence: therapeutic CTD PMID:12053072 NCBI chr12:19,204,258...19,207,948
Ensembl chr12:19,204,508...19,207,946
JBrowse link
G F2 coagulation factor II ISO associated with diarrhea;protein:increased expression:plasma (human) RGD PMID:9423793 RGD:40818428 NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486
JBrowse link
G Fos Fos proto-oncogene, AP-1 transcription factor subunit ISO RGD PMID:15632024 RGD:7242276 NCBI chr 6:105,121,170...105,124,036
Ensembl chr 6:105,121,170...105,124,036
JBrowse link
G Hp haptoglobin ISO RGD PMID:6218601 RGD:1626361 NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523
JBrowse link
G Il1a interleukin 1 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:15384034 NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:15384034 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
JBrowse link
G Il1rl1 interleukin 1 receptor-like 1 severity ISO associated with Escherichia Coli Infections; RGD PMID:30467800 RGD:39458200 NCBI chr 9:42,661,694...42,727,266
Ensembl chr 9:42,697,192...42,727,256
JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO 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
JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15384034 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
JBrowse link
G Mbl2 mannose binding lectin 2 treatment ISO RGD PMID:27378476 RGD:11530050 NCBI chr 1:228,016,439...228,024,736 JBrowse link
G Nqo1 NAD(P)H quinone dehydrogenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12588957 NCBI chr19:35,295,633...35,310,528
Ensembl chr19:35,295,573...35,310,557
JBrowse link
G Pla2g7 phospholipase A2 group VII severity ISO associated with Escherichia coli Infections; DNA:transversion mutation: :994 G>T (human) RGD PMID:10873870 RGD:7257516 NCBI chr 9:17,362,214...17,404,476
Ensembl chr 9:17,362,225...17,404,476
JBrowse link
G Plat plasminogen activator, tissue type ISO associated with Escherichia coli Infections;protein:increased expression:plasma (human) RGD PMID:11777999 RGD:11541069 NCBI chr16:69,240,582...69,265,177
Ensembl chr16:69,240,585...69,268,223
JBrowse link
G Thbd thrombomodulin ISO RGD PMID:22942429 RGD:11038690 NCBI chr 3:135,863,366...135,867,018
Ensembl chr 3:135,862,835...135,867,193
JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:15384034 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
JBrowse link
Heparin-induced Thrombocytopenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fcgr2a Fc gamma receptor IIa ISO RGD PMID:8772238 RGD:11040889 NCBI chr13:83,280,782...83,297,535
Ensembl chr13:83,280,784...83,295,967
JBrowse link
G Fcgr3a Fc gamma receptor IIIa susceptibility ISO DNA:SNP:cds:p.V158F(human) RGD PMID:15191947 RGD:11040991 NCBI chr13:83,249,905...83,259,921
Ensembl chr13:83,249,872...83,259,921
JBrowse link
G Il10 interleukin 10 no_association ISO DNA:repeats, haplotype:promoter
DNA:SNPs:promoter:rs1800896 (-1082G/A), rs1800871 (-819C/T), rs1800872 (-592C/A) (human)
RGD PMID:22239992 PMID:22239992 RGD:11049164, RGD:11049164 NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
JBrowse link
Hermansky-Pudlak syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap3b1 adaptor related protein complex 3 subunit beta 1 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome
DNA:duplication, deletions:introns, exons: (mouse)
ClinVar
RGD
PMID:24033266 PMID:25741868 PMID:28492532 PMID:12125811 PMID:11056055 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
JBrowse link
G Ap3d1 adaptor related protein complex 3 subunit delta 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:8,970,249...9,005,651
Ensembl chr 7:8,970,291...9,005,643
JBrowse link
G Bloc1s3 biogenesis of lysosomal organelles complex-1, subunit 3 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:25741868 PMID:31064749 NCBI chr 1:79,155,914...79,158,326
Ensembl chr 1:79,155,693...79,158,505
JBrowse link
G Bloc1s4 biogenesis of lysosomal organelles complex 1 subunit 4 ISS MouseDO NCBI chr14:74,043,025...74,044,325
Ensembl chr14:74,043,015...74,044,531
JBrowse link
G Bloc1s5 biogenesis of lysosomal organelles complex 1 subunit 5 ISS
ISO
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome MouseDO
ClinVar
PMID:32565547 NCBI chr17:26,171,965...26,197,276
Ensembl chr17:26,172,018...26,197,251
JBrowse link
G Bloc1s6 biogenesis of lysosomal organelles complex 1 subunit 6 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome
CTD
ClinVar
PMID:21665000 PMID:22461475 PMID:26575419 PMID:28492532 NCBI chr 3:109,816,397...109,826,528
Ensembl chr 3:109,816,366...109,828,308
JBrowse link
G Ccl5 C-C motif chemokine ligand 5 ISO protein:increased secretion:lung, alveolar macrophage (human) RGD PMID:19729668 RGD:4891476 NCBI chr10:68,322,826...68,327,365
Ensembl chr10:68,322,829...68,327,377
JBrowse link
G Cp ceruloplasmin ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome ClinVar PMID:18414213 PMID:24033266 PMID:25741868 PMID:28492532 PMID:31064749 NCBI chr 2:102,439,433...102,498,075
Ensembl chr 2:102,439,624...102,498,075
JBrowse link
G Cxcr4 C-X-C motif chemokine receptor 4 disease_progression ISO RGD PMID:25347450 RGD:11352293 NCBI chr13:40,077,976...40,081,883
Ensembl chr13:40,077,976...40,081,883
JBrowse link
G Dtnbp1 dystrobrevin binding protein 1 ISO DNA:deletion:intron, exon
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome
CTD
ClinVar
RGD
PMID:24033266 PMID:12923531 RGD:11251756 NCBI chr17:19,685,218...19,776,668
Ensembl chr17:19,685,215...19,776,661
JBrowse link
G Hps1 HPS1, biogenesis of lysosomal organelles complex 3 subunit 1 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome ClinVar PMID:8274781 PMID:8896559 PMID:9345105 PMID:9497254 PMID:9562579 More... NCBI chr 1:241,551,180...241,577,292
Ensembl chr 1:241,551,175...241,577,268
JBrowse link
G Hps3 HPS3, biogenesis of lysosomal organelles complex 2 subunit 1 ISO DNA:deletion:
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:11590544 PMID:16199547 PMID:18414213 PMID:24033266 PMID:25525159 More... RGD:1599538 NCBI chr 2:102,484,574...102,527,580
Ensembl chr 2:102,484,574...102,526,047
JBrowse link
G Hps4 HPS4, biogenesis of lysosomal organelles complex 3 subunit 2 ISO 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:24033266 PMID:25741868 PMID:26575419 PMID:28492532 PMID:12664304 More... RGD:1599546, RGD:11354897, RGD:11353873 NCBI chr12:44,264,037...44,294,791
Ensembl chr12:44,264,037...44,294,632
JBrowse link
G Hps5 HPS5, biogenesis of lysosomal organelles complex 2 subunit 2 ISO DNA:mutations:multiple:
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:21833017 PMID:23607980 PMID:24698632 PMID:25741868 PMID:28640947 More... RGD:11072072 NCBI chr 1:97,281,626...97,320,945
Ensembl chr 1:97,247,598...97,321,019
JBrowse link
G Hps6 HPS6, biogenesis of lysosomal organelles complex 2 subunit 3 ISO 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
JBrowse link
G Kxd1 KxDL motif containing 1 ISS MouseDO NCBI chr16:18,895,343...18,916,266
Ensembl chr16:18,900,616...18,920,807
JBrowse link
G Rab38 RAB38, member RAS oncogene family IAGP RGD PMID:19897744 RGD:2324690 NCBI chr 1:142,182,566...142,262,923
Ensembl chr 1:142,182,556...142,262,924
JBrowse link
G Rab38ru Rab38, member of RAS oncogene family, ruby allele IAGP RGD PMID:19897744 RGD:2324690
G Rabggta Rab geranylgeranyltransferase subunit alpha ISS MouseDO NCBI chr15:29,206,328...29,213,398
Ensembl chr15:29,206,157...29,213,348
JBrowse link
G Slc7a11 solute carrier family 7 member 11 ISS MouseDO NCBI chr 2:134,382,002...134,517,622
Ensembl chr 2:133,963,107...134,517,536
JBrowse link
G Vps33a VPS33A core subunit of CORVET and HOPS complexes ISS MouseDO NCBI chr12:33,024,596...33,051,399
Ensembl chr12:33,024,650...33,051,393
JBrowse link
Hermansky-Pudlak syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap3d1 adaptor related protein complex 3 subunit delta 1 ISS OMIM:203300 MouseDO NCBI chr 7:8,970,249...9,005,651
Ensembl chr 7:8,970,291...9,005,643
JBrowse link
G Dtnbp1 dystrobrevin binding protein 1 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 1 ClinVar PMID:23364359 NCBI chr17:19,685,218...19,776,668
Ensembl chr17:19,685,215...19,776,661
JBrowse link
G Hps1 HPS1, biogenesis of lysosomal organelles complex 3 subunit 1 ISO DNA:duplication:exon
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 1
ClinVar Annotator: match by OMIM:203300
ClinVar
OMIM
RGD
PMID:8274781 PMID:8896559 PMID:9345105 PMID:9497254 PMID:9562579 More... RGD:1625056 NCBI chr 1:241,551,180...241,577,292
Ensembl chr 1:241,551,175...241,577,268
JBrowse link
G Rab27a RAB27A, member RAS oncogene family ISS OMIM:203300 MouseDO NCBI chr 8:73,782,730...73,836,630
Ensembl chr 8:73,782,694...73,847,829
JBrowse link
Hermansky-Pudlak Syndrome 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap3d1 adaptor related protein complex 3 subunit delta 1 ISO ClinVar Annotator: match by term: Hermansky-Pudlak Syndrome 10 ClinVar
OMIM
PMID:26744459 NCBI chr 7:8,970,249...9,005,651
Ensembl chr 7:8,970,291...9,005,643
JBrowse link
Hermansky-Pudlak Syndrome 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bloc1s5 biogenesis of lysosomal organelles complex 1 subunit 5 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 11 OMIM
ClinVar
PMID:32565547 NCBI chr17:26,171,965...26,197,276
Ensembl chr17:26,172,018...26,197,251
JBrowse link
Hermansky-Pudlak syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap3b1 adaptor related protein complex 3 subunit beta 1 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2
ClinVar Annotator: match by term: Hermansky Pudlak syndrome 2
ClinVar Annotator: match by OMIM:608233
ClinVar Annotator: match by null
OMIM
ClinVar
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
JBrowse link
G Ap3d1 adaptor related protein complex 3 subunit delta 1 ISS OMIM:608233 MouseDO NCBI chr 7:8,970,249...9,005,651
Ensembl chr 7:8,970,291...9,005,643
JBrowse link
G Hps3 HPS3, biogenesis of lysosomal organelles complex 2 subunit 1 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 ClinVar PMID:11590544 PMID:28492532 PMID:32581362 NCBI chr 2:102,484,574...102,527,580
Ensembl chr 2:102,484,574...102,526,047
JBrowse link
Hermansky-Pudlak syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cp ceruloplasmin ISO ClinVar Annotator: match by This custom term has been created by RGD curators.
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 3
ClinVar 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
JBrowse link
G Hps3 HPS3, biogenesis of lysosomal organelles complex 2 subunit 1 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 3
DNA:splice-site mutation:intron:1303+1G>A (human)
ClinVar Annotator: match by OMIM:614072
OMIM
ClinVar
RGD
PMID:11455388 PMID:11590544 PMID:16199547 PMID:18414213 PMID:24033266 More... RGD:11041885 NCBI chr 2:102,484,574...102,527,580
Ensembl chr 2:102,484,574...102,526,047
JBrowse link
Hermansky-Pudlak syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hps4 HPS4, biogenesis of lysosomal organelles complex 3 subunit 2 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 4
ClinVar Annotator: match by OMIM:614073
OMIM
ClinVar
PMID:11836498 PMID:12664304 PMID:15108212 PMID:20158590 PMID:24033266 More... NCBI chr12:44,264,037...44,294,791
Ensembl chr12:44,264,037...44,294,632
JBrowse link
Hermansky-Pudlak syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hps5 HPS5, biogenesis of lysosomal organelles complex 2 subunit 2 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 5
ClinVar Annotator: match by OMIM:614074
OMIM
ClinVar
PMID:12548288 PMID:15296495 PMID:21833017 PMID:22995991 PMID:23607980 More... NCBI chr 1:97,281,626...97,320,945
Ensembl chr 1:97,247,598...97,321,019
JBrowse link
Hermansky-Pudlak syndrome 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hps6 HPS6, biogenesis of lysosomal organelles complex 2 subunit 3 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 6
ClinVar Annotator: match by OMIM:614075
OMIM
ClinVar
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
JBrowse link
Hermansky-Pudlak syndrome 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dtnbp1 dystrobrevin binding protein 1 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 7
ClinVar Annotator: match by OMIM:614076
OMIM
ClinVar
PMID:12923531 PMID:23364359 PMID:25741868 PMID:28259707 NCBI chr17:19,685,218...19,776,668
Ensembl chr17:19,685,215...19,776,661
JBrowse link
Hermansky-Pudlak syndrome 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bloc1s3 biogenesis of lysosomal organelles complex-1, subunit 3 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 8
ClinVar Annotator: match by OMIM:614077
OMIM
ClinVar
PMID:16385460 PMID:22709368 PMID:24033266 PMID:25741868 PMID:28492532 More... NCBI chr 1:79,155,914...79,158,326
Ensembl chr 1:79,155,693...79,158,505
JBrowse link
Hermansky-Pudlak syndrome 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bloc1s6 biogenesis of lysosomal organelles complex 1 subunit 6 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 9 OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:21665000 PMID:22461475 PMID:25741868 More... NCBI chr 3:109,816,397...109,826,528
Ensembl chr 3:109,816,366...109,828,308
JBrowse link
immunodeficiency 71 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arpc1b actin related protein 2/3 complex, subunit 1B ISO ClinVar Annotator: match by term: PLATELET ABNORMALITIES WITH EOSINOPHILIA AND IMMUNE-MEDIATED INFLAMMATORY DISEASE
ClinVar Annotator: match by term: Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease
ClinVar Annotator: match by term: IMMUNODEFICIENCY 71 WITH INFLAMMATORY DISEASE AND CONGENITAL THROMBOCYTOPENIA
ClinVar
OMIM
PMID:25741868 PMID:28368018 PMID:29127144 PMID:30254128 PMID:32499645 More... NCBI chr12:9,482,176...9,495,772
Ensembl chr12:9,480,831...9,495,747
JBrowse link
IVIC syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sall4 spalt-like transcription factor 4 ISO ClinVar Annotator: match by term: IVIC syndrome OMIM
ClinVar
PMID:7395922 PMID:17256792 PMID:25741868 NCBI chr 3:157,474,067...157,491,055
Ensembl chr 3:157,474,642...157,490,822
JBrowse link
Jacobsen Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acad8 acyl-CoA dehydrogenase family, member 8 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:25,382,271...25,406,429
Ensembl chr 8:25,382,273...25,406,414
JBrowse link
G Acrv1 acrosomal vesicle protein 1 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:36,404,394...36,409,971
Ensembl chr 8:36,404,394...36,424,959
JBrowse link
G Adamts15 ADAM metallopeptidase with thrombospondin type 1 motif, 15 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:29,307,864...29,331,249
Ensembl chr 8:29,307,865...29,331,249
JBrowse link
G Adamts8 ADAM metallopeptidase with thrombospondin type 1 motif, 8 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:29,349,078...29,368,413
Ensembl chr 8:29,349,114...29,368,404
JBrowse link
G Aplp2 amyloid beta precursor like protein 2 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:29,599,230...29,662,311
Ensembl chr 8:29,599,230...29,661,855
JBrowse link
G Arhgap32 Rho GTPase activating protein 32 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:30,421,269...30,681,653
Ensembl chr 8:30,421,515...30,678,454
JBrowse link
G B3gat1 beta-1,3-glucuronyltransferase 1 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:25,087,123...25,114,692
Ensembl chr 8:25,087,547...25,113,395
JBrowse link
G Barx2 BARX homeobox 2 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:30,251,132...30,319,105
Ensembl chr 8:30,251,132...30,319,013
JBrowse link
G Ccdc15 coiled-coil domain containing 15 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:36,991,147...37,068,849
Ensembl chr 8:36,998,867...37,068,919
JBrowse link
G Cdon cell adhesion associated, oncogene regulated ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:33,775,123...33,861,635
Ensembl chr 8:33,806,183...33,859,033
JBrowse link
G Chek1 checkpoint kinase 1 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:36,420,565...36,443,477
Ensembl chr 8:36,420,569...36,441,009
JBrowse link
G Dcps decapping enzyme, scavenger ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:33,468,669...33,524,407
Ensembl chr 8:33,415,671...33,524,389
JBrowse link
G Ddx25 DEAD-box helicase 25 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:33,894,224...33,910,377
Ensembl chr 8:33,894,232...33,921,764
JBrowse link
G Ei24 EI24, autophagy associated transmembrane protein ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:36,494,289...36,510,653
Ensembl chr 8:36,494,289...36,510,571
JBrowse link
G Esam endothelial cell adhesion molecule ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:37,238,228...37,249,217
Ensembl chr 8:37,238,287...37,249,215
JBrowse link
G Ets1 ETS proto-oncogene 1, transcription factor ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:31,045,909...31,168,010
Ensembl chr 8:31,045,945...31,168,010
JBrowse link
G Fam118b family with sequence similarity 118, member B ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:33,566,681...33,617,310
Ensembl chr 8:33,566,669...33,617,270
JBrowse link
G Fez1 fasciculation and elongation protein zeta 1 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:36,544,462...36,589,684
Ensembl chr 8:36,544,535...36,589,683
JBrowse link
G Fli1 Fli-1 proto-oncogene, ETS transcription factor ISO ClinVar Annotator: match by term: 11q partial monosomy syndrome
ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia
ClinVar PMID:25741868 PMID:28255014 PMID:31064749 PMID:32581362 NCBI chr 8:30,831,422...30,950,468
Ensembl chr 8:30,832,753...30,950,433
JBrowse link
G Foxred1 FAD-dependent oxidoreductase domain containing 1 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:33,551,010...33,560,227
Ensembl chr 8:33,551,013...33,560,192
JBrowse link
G Glb1l2 galactosidase, beta 1-like 2 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:25,115,462...25,166,843
Ensembl chr 8:25,115,462...25,166,783
JBrowse link
G Glb1l3 galactosidase, beta 1-like 3 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:25,179,165...25,220,904
Ensembl chr 8:25,179,165...25,220,904
JBrowse link
G Hepacam hepatic and glial cell adhesion molecule ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:37,087,864...37,106,759
Ensembl chr 8:37,087,857...37,105,920
JBrowse link
G Hyls1 HYLS1, centriolar and ciliogenesis associated ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:33,913,016...33,922,125
Ensembl chr 8:33,912,692...33,921,760
JBrowse link
G Igsf9b immunoglobulin superfamily, member 9B ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:25,712,644...25,769,481
Ensembl chr 8:25,712,644...25,758,554
JBrowse link
G Jam3 junctional adhesion molecule 3 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:25,508,461...25,569,306
Ensembl chr 8:25,507,057...25,569,355
JBrowse link
G Kcnj1 potassium inwardly-rectifying channel, subfamily J, member 1 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:30,779,883...30,808,607
Ensembl chr 8:30,753,617...30,813,796
JBrowse link
G Kcnj5 potassium inwardly-rectifying channel, subfamily J, member 5 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:30,724,923...30,753,083
Ensembl chr 8:30,724,925...30,753,518
JBrowse link
G Kirrel3 kirre like nephrin family adhesion molecule 3 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:32,865,779...33,407,555
Ensembl chr 8:32,862,776...33,405,676
JBrowse link
G Msantd2 Myb/SANT DNA binding domain containing 2 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:37,200,890...37,234,691
Ensembl chr 8:37,200,260...37,234,476
JBrowse link
G Ncapd3 non-SMC condensin II complex, subunit D3 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:25,437,067...25,506,375
Ensembl chr 8:25,437,123...25,506,373
JBrowse link
G Nfrkb nuclear factor related to kappa B binding protein ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:29,831,802...29,863,360
Ensembl chr 8:29,831,812...29,863,359
JBrowse link
G Nrgn neurogranin ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:37,255,462...37,263,659
Ensembl chr 8:37,256,930...37,257,516
JBrowse link
G Ntm neurotrimin ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:27,376,582...28,366,604
Ensembl chr 8:27,377,773...28,366,595
JBrowse link
G Olr1194 olfactory receptor 1194 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:37,434,903...37,435,832
Ensembl chr 8:37,434,551...37,439,746
JBrowse link
G Olr1196 olfactory receptor 1196 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:37,479,706...37,480,638
Ensembl chr 8:37,478,794...37,481,315
JBrowse link
G Olr1201 olfactory receptor 1201 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:37,693,578...37,694,510
Ensembl chr 8:37,693,499...37,694,547
JBrowse link
G Olr1202 olfactory receptor 1202 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:37,720,158...37,721,087 JBrowse link
G Olr1235 olfactory receptor 1235 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:38,521,915...38,522,856
Ensembl chr 8:38,520,758...38,522,936
JBrowse link
G Opcml opioid binding protein/cell adhesion molecule-like ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:26,788,988...27,304,551
Ensembl chr 8:26,192,841...27,300,620
JBrowse link
G Panx3 pannexin 3 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:37,366,758...37,377,640
Ensembl chr 8:37,366,862...37,377,640
JBrowse link
G Pate1 prostate and testis expressed 1 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:34,048,617...34,050,848
Ensembl chr 8:34,048,617...34,050,848
JBrowse link
G Pate2 prostate and testis expressed 2 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:34,019,123...34,026,850
Ensembl chr 8:34,024,114...34,050,517
JBrowse link
G Pate3 prostate and testis expressed 3 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:34,014,164...34,016,175
Ensembl chr 8:34,014,164...34,016,175
JBrowse link
G Pate4 prostate and testis expressed 4 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:33,988,812...33,991,552
Ensembl chr 8:33,988,812...33,991,552
JBrowse link
G Pknox2 PBX/knotted 1 homeobox 2 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:36,600,633...36,863,131
Ensembl chr 8:36,600,636...36,790,940
JBrowse link
G Prdm10 PR/SET domain 10 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:29,724,011...29,827,757
Ensembl chr 8:29,724,245...29,826,080
JBrowse link
G Pus3 pseudouridine synthase 3 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:33,910,461...33,918,716
Ensembl chr 8:33,911,357...33,918,714
JBrowse link
G Robo3 roundabout guidance receptor 3 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:37,133,542...37,151,674
Ensembl chr 8:37,133,916...37,151,315
JBrowse link
G Robo4 roundabout guidance receptor 4 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:37,119,966...37,133,887
Ensembl chr 8:37,119,988...37,132,519
JBrowse link
G Rpusd4 RNA pseudouridine synthase D4 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:33,617,384...33,626,873
Ensembl chr 8:33,617,379...33,626,873
JBrowse link
G Siae sialic acid acetylesterase ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:37,318,724...37,354,004
Ensembl chr 8:37,318,747...37,353,996
JBrowse link
G Slc37a2 solute carrier family 37 member 2 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:36,945,787...36,971,748
Ensembl chr 8:36,946,930...36,971,482
JBrowse link
G Snx19 sorting nexin 19 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:28,829,881...28,867,600
Ensembl chr 8:28,829,886...28,867,061
JBrowse link
G Spa17 sperm autoantigenic protein 17 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:37,307,432...37,318,645
Ensembl chr 8:37,307,557...37,318,639
JBrowse link
G Spata19 spermatogenesis associated 19 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:25,814,922...25,820,663
Ensembl chr 8:25,814,905...25,820,670
JBrowse link
G Srpra SRP receptor subunit alpha ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:33,560,365...33,566,458
Ensembl chr 8:33,560,348...33,566,470
JBrowse link
G St14 ST14 transmembrane serine protease matriptase ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:29,540,805...29,581,704
Ensembl chr 8:29,540,811...29,581,517
JBrowse link
G St3gal4 ST3 beta-galactoside alpha-2,3-sialyltransferase 4 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:33,415,666...33,465,365
Ensembl chr 8:33,415,671...33,524,389
JBrowse link
G Stt3a STT3 oligosaccharyltransferase complex catalytic subunit A ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:36,443,623...36,483,111
Ensembl chr 8:36,446,788...36,483,293
JBrowse link
G Tbrg1 transforming growth factor beta regulator 1 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:37,355,274...37,362,933
Ensembl chr 8:37,354,658...37,362,930
JBrowse link
G Thyn1 thymocyte nuclear protein 1 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:25,406,563...25,415,444
Ensembl chr 8:25,406,500...25,415,445
JBrowse link
G Tirap TIR domain containing adaptor protein ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:33,531,724...33,548,508
Ensembl chr 8:33,531,725...33,547,432
JBrowse link
G Tmem218 transmembrane protein 218 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:36,924,553...36,940,564
Ensembl chr 8:36,924,585...36,939,927
JBrowse link
G Tmem45b transmembrane protein 45b ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:29,865,276...29,910,453
Ensembl chr 8:29,865,278...29,910,453
JBrowse link
G Vps26b VPS26 retromer complex component B ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:25,415,877...25,436,985
Ensembl chr 8:25,415,261...25,436,985
JBrowse link
G Vsig2 V-set and immunoglobulin domain containing 2 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:37,250,107...37,255,150
Ensembl chr 8:37,250,107...37,255,150
JBrowse link
G Zbtb44 zinc finger and BTB domain containing 44 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:29,466,055...29,524,027
Ensembl chr 8:29,466,352...29,518,163
JBrowse link
Kaposiform Hemangioendothelioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgf2 fibroblast growth factor 2 ISO RGD PMID:14517397 RGD:8655667 NCBI chr 2:120,236,328...120,290,673
Ensembl chr 2:120,236,328...120,291,221
JBrowse link
G Gna14 G protein subunit alpha 14 ISO ClinVar Annotator: match by term: Kaposiform hemangioendothelioma ClinVar PMID:27476652 NCBI chr 1:213,714,993...213,900,083
Ensembl chr 1:213,716,020...213,897,423
JBrowse link
MYH-9 related disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myh9 myosin, heavy chain 9 ISO DNA:missense mutation:exon:p.R702H(human)
ClinVar Annotator: match by term: Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
ClinVar Annotator: match by term: MYH9-related disorder
ClinVar Annotator: match by term: Sebastian syndrome
ClinVar Annotator: match by term: May-Hegglin anomaly
ClinVar Annotator: match by term: Epstein syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: MYH9 related disorders
ClinVar Annotator: match by OMIM:153640
ClinVar Annotator: match by OMIM:155100
DNA:mutation:cds:p.R702C(mouse)
DNA:mutation:exon:p.E1841K(human)
DNA:missense mutations:exons:multiple
ClinVar
CTD
OMIM
RGD
PMID:1449176 PMID:5011389 PMID:8280620 PMID:9390828 PMID:10603121 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
JBrowse link
Neonatal Alloimmune Thrombocytopenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Itga2 integrin subunit alpha 2 ISO ClinVar Annotator: match by term: Fetal and neonatal alloimmune thrombocytopenia ClinVar PMID:23368983 PMID:25741868 NCBI chr 2:46,520,345...46,621,487
Ensembl chr 2:46,523,948...46,621,481
JBrowse link
G Itga2b integrin subunit alpha 2b ISO ClinVar Annotator: match by term: BAK PLATELET-SPECIFIC ANTIGEN ClinVar PMID:2014236 PMID:25741868 PMID:28492532 NCBI chr10:87,408,532...87,426,055
Ensembl chr10:87,408,536...87,426,168
JBrowse link
G Itgb3 integrin subunit beta 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: PEN(a)/PEN(b) ALLOANTIGEN POLYMORPHISM
ClinVar Annotator: match by term: Ca/Tu ALLOANTIGEN POLYMORPHISM
ClinVar Annotator: match by term: Fetal and neonatal alloimmune thrombocytopenia
CTD
ClinVar
PMID:1430225 PMID:2257303 PMID:7694683 PMID:8457479 PMID:9787162 More... NCBI chr10:89,509,917...89,564,679
Ensembl chr10:89,509,989...89,564,679
JBrowse link
Phospholipase A2, Group IVA, Deficiency of term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pla2g4a phospholipase A2 group IVA ISO ClinVar Annotator: match by term: GASTROINTESTINAL ULCERATION, RECURRENT, WITH DYSFUNCTIONAL PLATELETS OMIM
ClinVar
PMID:18451993 PMID:23268370 PMID:25102815 NCBI chr13:61,877,818...62,022,261
Ensembl chr13:61,877,813...62,022,266
JBrowse link
platelet storage pool deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap3b1 adaptor related protein complex 3 subunit beta 1 ISS OMIM:185050 MouseDO NCBI chr 2:25,600,069...25,800,937
Ensembl chr 2:25,600,040...25,800,935
JBrowse link
G Ap3d1 adaptor related protein complex 3 subunit delta 1 ISS OMIM:185050 MouseDO NCBI chr 7:8,970,249...9,005,651
Ensembl chr 7:8,970,291...9,005,643
JBrowse link
G Bloc1s5 biogenesis of lysosomal organelles complex 1 subunit 5 ISS OMIM:185050 MouseDO NCBI chr17:26,171,965...26,197,276
Ensembl chr17:26,172,018...26,197,251
JBrowse link
G Bloc1s6 biogenesis of lysosomal organelles complex 1 subunit 6 ISS OMIM:185050 MouseDO NCBI chr 3:109,816,397...109,826,528
Ensembl chr 3:109,816,366...109,828,308
JBrowse link
G Dock7 dedicator of cytokinesis 7 ISS OMIM:185050 MouseDO NCBI chr 5:113,599,371...113,782,871
Ensembl chr 5:113,600,198...113,782,813
JBrowse link
G Dtnbp1 dystrobrevin binding protein 1 ISS OMIM:185050 MouseDO NCBI chr17:19,685,218...19,776,668
Ensembl chr17:19,685,215...19,776,661
JBrowse link
G Gfi1b growth factor independent 1B transcriptional repressor ISO ClinVar Annotator: match by term: Storage pool disease of platelets ClinVar PMID:25741868 NCBI chr 3:11,940,232...11,952,989
Ensembl chr 3:11,940,233...11,952,942
JBrowse link
G Hps1 HPS1, biogenesis of lysosomal organelles complex 3 subunit 1 ISS OMIM:185050 MouseDO NCBI chr 1:241,551,180...241,577,292
Ensembl chr 1:241,551,175...241,577,268
JBrowse link
G Hps3 HPS3, biogenesis of lysosomal organelles complex 2 subunit 1 ISS OMIM:185050 MouseDO NCBI chr 2:102,484,574...102,527,580
Ensembl chr 2:102,484,574...102,526,047
JBrowse link
G Hps4 HPS4, biogenesis of lysosomal organelles complex 3 subunit 2 ISS OMIM:185050 MouseDO NCBI chr12:44,264,037...44,294,791
Ensembl chr12:44,264,037...44,294,632
JBrowse link
G Hps5 HPS5, biogenesis of lysosomal organelles complex 2 subunit 2 ISS OMIM:185050 MouseDO NCBI chr 1:97,281,626...97,320,945
Ensembl chr 1:97,247,598...97,321,019
JBrowse link
G Hps6 HPS6, biogenesis of lysosomal organelles complex 2 subunit 3 ISO ClinVar Annotator: match by term: Storage pool disease of platelets ClinVar PMID:25741868 PMID:31064749 NCBI chr 1:244,853,256...244,855,865
Ensembl chr 1:244,853,194...244,855,883
JBrowse link
G Lyst lysosomal trafficking regulator ISS OMIM:185050 MouseDO NCBI chr17:86,241,384...86,443,501
Ensembl chr17:86,241,384...86,443,480
JBrowse link
G Rab27a RAB27A, member RAS oncogene family ISS OMIM:185050 MouseDO NCBI chr 8:73,782,730...73,836,630
Ensembl chr 8:73,782,694...73,847,829
JBrowse link
G Rab27b RAB27B, member RAS oncogene family ISS OMIM:185050 MouseDO NCBI chr18:63,597,554...63,794,124
Ensembl chr18:63,600,937...63,757,180
JBrowse link
G Rab38 RAB38, member RAS oncogene family IAGP RGD PMID:9250486 RGD:1302447 NCBI chr 1:142,182,566...142,262,923
Ensembl chr 1:142,182,556...142,262,924
JBrowse link
G Rab38ru Rab38, member of RAS oncogene family, ruby allele IAGP RGD PMID:9250486 RGD:1302447
G Runx1 RUNX family transcription factor 1 ISO ClinVar Annotator: match by term: Storage pool disease of platelets ClinVar PMID:25741868 PMID:31064749 NCBI chr11:31,839,880...32,074,427
Ensembl chr11:31,843,764...32,074,542
JBrowse link
G Slc7a11 solute carrier family 7 member 11 ISS OMIM:185050 MouseDO NCBI chr 2:134,382,002...134,517,622
Ensembl chr 2:133,963,107...134,517,536
JBrowse link
platelet-type bleeding disorder 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd36 CD36 molecule ISO ClinVar Annotator: match by term: Platelet glycoprotein IV deficiency
ClinVar Annotator: match by OMIM:608404
ClinVar Annotator: match by null
OMIM
ClinVar
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
JBrowse link
G Serpine1 serpin family E member 1 severity ISO RGD PMID:18820218 RGD:13208509 NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
JBrowse link
platelet-type bleeding disorder 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gp6 glycoprotein VI ISO ClinVar Annotator: match by term: Platelet-type bleeding disorder 11
ClinVar Annotator: match by OMIM:614201
OMIM
ClinVar
PMID:19549989 PMID:19552682 PMID:25741868 NCBI chr 1:69,429,232...69,492,709
Ensembl chr 1:69,465,789...69,491,326
JBrowse link
Platelet-Type Bleeding Disorder 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcg5 ATP binding cassette subfamily G member 5 ISO ClinVar Annotator: match by term: Impaired thromboxane A2 agonist-induced platelet aggregation ClinVar PMID:32581362 NCBI chr 6:9,965,118...9,990,563
Ensembl chr 6:9,965,118...9,990,563
JBrowse link
G Tbxa2r thromboxane A2 receptor susceptibility ISO ClinVar Annotator: match by term: Impaired thromboxane A2 agonist-induced platelet aggregation
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Platelet-type bleeding disorder 13, susceptibility to
ClinVar
CTD
OMIM
RGD
PMID:2955539 PMID:7929844 PMID:8428006 PMID:8613548 PMID:19828703 More... RGD:11059528 NCBI chr 7:8,383,347...8,390,753
Ensembl chr 7:8,383,378...8,388,176
JBrowse link
platelet-type bleeding disorder 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbxas1 thromboxane A synthase 1 ISO ClinVar Annotator: match by term: Bleeding disorder, platelet-type, 14 OMIM
ClinVar
PMID:25741868 PMID:28492532 NCBI chr 4:67,664,963...67,837,096
Ensembl chr 4:67,665,007...67,837,096
JBrowse link
platelet-type bleeding disorder 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actn1 actinin, alpha 1 ISO ClinVar Annotator: match by term: Platelet-type bleeding disorder 15
ClinVar Annotator: match by OMIM:615193
OMIM
ClinVar
PMID:23434115 PMID:25741868 PMID:31064749 PMID:31237726 PMID:32581362 NCBI chr 6:98,998,553...99,093,334
Ensembl chr 6:98,998,556...99,093,251
JBrowse link
G Fli1 Fli-1 proto-oncogene, ETS transcription factor ISO ClinVar Annotator: match by term: Bleeding disorder platelet type macrothrombocytopenia ClinVar PMID:23809206 PMID:26316623 NCBI chr 8:30,831,422...30,950,468
Ensembl chr 8:30,832,753...30,950,433
JBrowse link
platelet-type bleeding disorder 16 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Itga2b integrin subunit alpha 2b ISO ClinVar Annotator: match by term: Platelet-type bleeding disorder 16
DNA:mutation:cds:p.G13V(human)
DNA:missense mutation: :p.N2D (97A>G) (human)
DNA:mutations:promoter, exon:multiple
OMIM
ClinVar
RGD
PMID:1638023 PMID:9834222 PMID:15099289 PMID:20020534 PMID:21454453 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
JBrowse link
G Itgb3 integrin subunit beta 3 ISO
ISS
DNA:missense mutations, deletions, insertion:exon:multiple
OMIM:187800
ClinVar Annotator: match by term: Platelet-type bleeding disorder 16
MouseDO
ClinVar
RGD
PMID:9351872 PMID:15701721 PMID:19570064 PMID:19821948 PMID:20804530 More... RGD:10755462, RGD:10755470, RGD:10755466 NCBI chr10:89,509,917...89,564,679
Ensembl chr10:89,509,989...89,564,679
JBrowse link
platelet-type bleeding disorder 17 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gfi1b growth factor independent 1B transcriptional repressor ISO ClinVar Annotator: match by term: Platelet-type bleeding disorder 17 ClinVar
OMIM
PMID:1065298 PMID:5681484 PMID:23927492 PMID:25741868 PMID:28041820 More... NCBI chr 3:11,940,232...11,952,989
Ensembl chr 3:11,940,233...11,952,942
JBrowse link
platelet-type bleeding disorder 18 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rasgrp2 RAS guanyl releasing protein 2 ISO ClinVar Annotator: match by term: Platelet-type bleeding disorder 18 ClinVar
OMIM
PMID:24958846 PMID:25741868 PMID:31064749 PMID:32581362 NCBI chr 1:203,705,777...203,722,993
Ensembl chr 1:203,707,481...203,722,993
JBrowse link
platelet-type bleeding disorder 20 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slfn14 schlafen family member 14 ISO ClinVar Annotator: match by term: Platelet-type bleeding disorder 20 OMIM
ClinVar
PMID:25741868 PMID:26280575 PMID:26769223 PMID:29678925 PMID:32581362 NCBI chr10:68,076,326...68,087,794 JBrowse link
Platelet-Type Bleeding Disorder 21 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fli1 Fli-1 proto-oncogene, ETS transcription factor ISO ClinVar Annotator: match by term: BLEEDING DISORDER, PLATELET-TYPE, 21
ClinVar Annotator: match by term: Bleeding disorder, platelet-type, 21
ClinVar Annotator: match by term: BLEEDING DISORDER, PLATELET-TYPE, 21, AUTOSOMAL RECESSIVE
ClinVar
OMIM
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
JBrowse link
Platelet-Type Bleeding Disorder 22 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ephb2 Eph receptor B2 ISO ClinVar Annotator: match by term: BLEEDING DISORDER, PLATELET-TYPE, 22 OMIM
ClinVar
PMID:30213874 NCBI chr 5:148,889,574...149,077,027
Ensembl chr 5:148,897,246...149,077,059
JBrowse link
Platelet-Type Bleeding Disorder 23 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Itgb3 integrin subunit beta 3 ISO ClinVar Annotator: match by term: Glanzmann thrombasthenia 2
ClinVar Annotator: match by term: GLANZMANN THROMBASTHENIA 2
OMIM
ClinVar
PMID:1371279 PMID:1438206 PMID:1602006 PMID:2392682 PMID:2428841 More... NCBI chr10:89,509,917...89,564,679
Ensembl chr10:89,509,989...89,564,679
JBrowse link
Platelet-Type Bleeding Disorder 24 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Itgb3 integrin subunit beta 3 ISO ClinVar Annotator: match by term: Bleeding disorder, platelet-type, 24
ClinVar Annotator: match by term: BLEEDING DISORDER, PLATELET-TYPE, 24
OMIM
ClinVar
PMID:18065693 PMID:19336737 PMID:20081061 PMID:23253071 PMID:25741868 NCBI chr10:89,509,917...89,564,679
Ensembl chr10:89,509,989...89,564,679
JBrowse link
platelet-type bleeding disorder 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gp1ba glycoprotein Ib platelet subunit alpha ISO ClinVar Annotator: match by term: Pseudo von Willebrand disease
DNA:missense mutation: :p.G233V (human)
DNA:missense mutation: :p.V239M (human)
DNA:deletion
ClinVar Annotator: match by OMIM:177820
OMIM
ClinVar
RGD
PMID:2052556 PMID:8384898 PMID:8486780 PMID:25741868 PMID:31064749 More... RGD:10450823, RGD:10450814, RGD:10450803 NCBI chr10:55,352,938...55,355,804
Ensembl chr10:55,352,899...55,356,774
JBrowse link
platelet-type bleeding disorder 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Med12l mediator complex subunit 12L ISO ClinVar Annotator: match by term: Platelet-type bleeding disorder 8
ClinVar Annotator: match by term: Impaired ADP-induced platelet aggregation
ClinVar PMID:7706468 PMID:11196645 PMID:20966167 PMID:25741868 PMID:29117459 More... NCBI chr 2:143,253,048...143,576,507
Ensembl chr 2:143,252,139...143,573,741
JBrowse link
G P2ry12 purinergic receptor P2Y12 ISO ClinVar Annotator: match by term: Impaired ADP-induced platelet aggregation
ClinVar Annotator: match by term: Platelet-type bleeding disorder 8
OMIM
ClinVar
PMID:7706468 PMID:11196645 PMID:20966167 PMID:25741868 PMID:29117459 More... NCBI chr 2:143,481,468...143,523,340
Ensembl chr 2:143,481,430...143,523,361
JBrowse link
platelet-type bleeding disorder 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Itga2 integrin subunit alpha 2 ISO ClinVar Annotator: match by term: Platelet-type bleeding disorder 9
ClinVar Annotator: match by OMIM:614200
OMIM
ClinVar
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
JBrowse link
G Mocs2 molybdenum cofactor synthesis 2 ISO ClinVar Annotator: match by term: Platelet-type bleeding disorder 9 ClinVar NCBI chr 2:46,504,574...46,516,327
Ensembl chr 2:46,504,588...46,516,324
JBrowse link
Posttransfusion Purpura term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Itgb3 integrin subunit beta 3 ISO ClinVar Annotator: match by term: PEN(a)/PEN(b) ALLOANTIGEN POLYMORPHISM OMIM
ClinVar
PMID:1430225 PMID:9787162 PMID:14516468 PMID:21658138 PMID:28492532 NCBI chr10:89,509,917...89,564,679
Ensembl chr10:89,509,989...89,564,679
JBrowse link
Quebec platelet disorder term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Plau plasminogen activator, urokinase ISO ClinVar Annotator: match by term: Quebec platelet disorder
ClinVar Annotator: match by OMIM:601709
OMIM
ClinVar
PMID:18988861 PMID:20007542 PMID:25741868 PMID:28492532 NCBI chr15:3,456,230...3,462,732
Ensembl chr15:3,456,232...3,462,775
JBrowse link
Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hoxa11 homeobox A11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24239177 NCBI chr 4:81,342,527...81,346,189
Ensembl chr 4:81,342,528...81,346,232
JBrowse link
Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hoxa11 homeobox A11 ISO ClinVar Annotator: match by term: Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 OMIM
ClinVar
PMID:11101832 NCBI chr 4:81,342,527...81,346,189
Ensembl chr 4:81,342,528...81,346,232
JBrowse link
Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mecom MDS1 and EVI1 complex locus ISO ClinVar Annotator: match by term: Radioulnar synostosis with amegakaryocytic thrombocytopenia 2
ClinVar Annotator: match by OMIM:616738
OMIM
ClinVar
PMID:20091385 PMID:25741868 PMID:26581901 NCBI chr 2:112,909,353...113,464,583
Ensembl chr 2:112,909,321...113,464,590
JBrowse link
Stormorken syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Stim1 stromal interaction molecule 1 ISO ClinVar Annotator: match by term: Stormorken syndrome OMIM
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
JBrowse link
Takenouchi-Kosaki Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdc42 cell division cycle 42 ISO ClinVar Annotator: match by term: Takenouchi-Kosaki syndrome OMIM
ClinVar
PMID:25741868 PMID:26386261 PMID:26708094 PMID:28991257 PMID:29335451 More... NCBI chr 5:149,555,069...149,593,239
Ensembl chr 5:149,553,724...149,593,111
JBrowse link
Thrombocythemia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mpl MPL proto-oncogene, thrombopoietin receptor ISO ClinVar Annotator: match by term: Thrombocythemia 2, somatic OMIM
ClinVar
PMID:16834459 PMID:16868251 PMID:18769448 PMID:20113333 PMID:21326037 More... NCBI chr 5:131,973,897...131,987,472
Ensembl chr 5:131,973,895...131,986,797
JBrowse link
Thrombocythemia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Insl6 insulin-like 6 ISO ClinVar Annotator: match by term: Thrombocythemia 3 ClinVar PMID:15781101 PMID:15793561 PMID:15858187 PMID:16081687 PMID:16247455 More... NCBI chr 1:227,069,958...227,073,493
Ensembl chr 1:227,069,958...227,073,493
JBrowse link
G Jak2 Janus kinase 2 ISO ClinVar Annotator: match by term: Thrombocythemia 3
ClinVar Annotator: match by OMIM:614521
OMIM
ClinVar
PMID:15781101 PMID:15793561 PMID:15858187 PMID:16081687 PMID:16247455 More... NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189
JBrowse link
thrombocytopenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcg5 ATP binding cassette subfamily G member 5 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:25741868 PMID:28492532 PMID:31064749 NCBI chr 6:9,965,118...9,990,563
Ensembl chr 6:9,965,118...9,990,563
JBrowse link
G Abcg8 ATP binding cassette subfamily G member 8 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:25741868 PMID:28492532 PMID:31064749 NCBI chr 6:9,945,629...9,964,912
Ensembl chr 6:9,945,629...9,964,912
JBrowse link
G Acbd5 acyl-CoA binding domain containing 5 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:25741868 PMID:28492532 NCBI chr17:85,206,178...85,248,909
Ensembl chr17:85,206,303...85,248,215
JBrowse link
G Actn1 actinin, alpha 1 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:23434115 PMID:24069336 PMID:25361813 PMID:25741868 PMID:31064749 More... NCBI chr 6:98,998,553...99,093,334
Ensembl chr 6:98,998,556...99,093,251
JBrowse link
G Alb albumin ISO CTD Direct Evidence: marker/mechanism CTD PMID:6734075 NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836
JBrowse link
G Ankrd26 ankyrin repeat domain containing 26 ISO
ISS
ClinVar Annotator: match by term: Thrombocytopenia
OMIM:188000 | OMIM:273900 | OMIM:300367 | OMIM:313900 | OMIM:612004
ClinVar
MouseDO
PMID:10521306 PMID:20626622 PMID:21211618 PMID:21467542 PMID:23677566 More... NCBI chr 4:151,670,604...151,740,032
Ensembl chr 4:151,672,037...151,739,968
JBrowse link
G Aspg asparaginase ISO CTD Direct Evidence: marker/mechanism CTD PMID:2187653 NCBI chr 6:131,176,727...131,196,268
Ensembl chr 6:131,176,874...131,196,268
JBrowse link
G Brip1 BRCA1 interacting helicase 1 ISO human gene in a mouse model RGD PMID:15613547 RGD:11252148 NCBI chr10:70,907,266...71,031,502
Ensembl chr10:70,907,371...71,030,324
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 ISO associated with Lupus Erythematosus, Systemic;DNA:snp:promoter:g.-2518A>G (human) RGD PMID:20414371 RGD:11528535 NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
JBrowse link
G Cd40lg CD40 ligand treatment ISO associated with Malaria RGD PMID:11865192 RGD:11352243 NCBI chr  X:135,127,119...135,138,302
Ensembl chr  X:135,126,969...135,138,306
JBrowse link
G Chek2 checkpoint kinase 2 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:10617473 PMID:11053450 PMID:11479205 PMID:11719428 PMID:11967536 More... NCBI chr12:45,788,823...45,821,382
Ensembl chr12:45,788,827...45,821,286
JBrowse link
G Clic6 chloride intracellular channel 6 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:32581362 NCBI chr11:31,737,813...31,780,360
Ensembl chr11:31,737,813...31,780,061
JBrowse link
G Csf2 colony stimulating factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8297739 NCBI chr10:38,386,945...38,388,926
Ensembl chr10:38,386,945...38,389,199
JBrowse link
G Csf3 colony stimulating factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:7543699 PMID:12085204 NCBI chr10:83,660,787...83,664,569
Ensembl chr10:83,661,207...83,663,603
JBrowse link
G Cycs cytochrome c, somatic no_association ISO DNA:transition mutation:exon:p.G41S(human)
ClinVar Annotator: match by term: Thrombocytopenia
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:18345000 PMID:24326104 PMID:25741868 PMID:31064749 PMID:32581362 More... RGD:11352700, RGD:11352702 NCBI chr 4:79,651,894...79,653,994
Ensembl chr 4:79,651,378...79,654,054
JBrowse link
G Dync2li1 dynein cytoplasmic 2 light intermediate chain 1 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:25741868 PMID:28492532 PMID:31064749 NCBI chr 6:9,992,537...10,025,403
Ensembl chr 6:9,992,541...10,025,336
JBrowse link
G Epo erythropoietin ISO CTD Direct Evidence: therapeutic CTD PMID:8260696 NCBI chr12:19,204,258...19,207,948
Ensembl chr12:19,204,508...19,207,946
JBrowse link
G Etv6 ETS variant transcription factor 6 ISO ClinVar Annotator: match by term: Thrombocytopenia
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:25581430 PMID:25741868 PMID:25807284 PMID:31064749 PMID:32581362 NCBI chr 4:166,849,031...167,085,211
Ensembl chr 4:166,847,686...167,084,992
JBrowse link
G F10 coagulation factor X ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar NCBI chr16:76,468,834...76,488,141
Ensembl chr16:76,468,838...76,488,141
JBrowse link
G F7 coagulation factor VII treatment ISO human protein in a rat model RGD PMID:19175492 RGD:11049531 NCBI chr16:76,489,779...76,500,636
Ensembl chr16:76,489,717...76,500,610
JBrowse link
G Fcgr2a Fc gamma receptor IIa ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:11588041 PMID:10201963 RGD:11040944 NCBI chr13:83,280,782...83,297,535
Ensembl chr13:83,280,784...83,295,967
JBrowse link
G Fga fibrinogen alpha chain treatment IMP
ISO
ClinVar Annotator: match by term: Thrombocytopenia ClinVar
RGD
PMID:28492532 PMID:2005585 RGD:10755505 NCBI chr 2:168,365,364...168,381,533
Ensembl chr 2:168,374,120...168,381,528
JBrowse link
G Fgg fibrinogen gamma chain ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:10688828 PMID:15795540 PMID:21228398 PMID:24033266 PMID:25741868 More... NCBI chr 2:168,354,880...168,362,325
Ensembl chr 2:168,355,013...168,362,322
JBrowse link
G Fli1 Fli-1 proto-oncogene, ETS transcription factor ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar
RGD
PMID:24100448 PMID:32581362 PMID:15232614 RGD:1582490 NCBI chr 8:30,831,422...30,950,468
Ensembl chr 8:30,832,753...30,950,433
JBrowse link
G Flna filamin A ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr  X:152,007,758...152,034,266
Ensembl chr  X:152,007,758...152,031,052
JBrowse link
G Fyb1 FYN binding protein 1 ISS OMIM:188000 | OMIM:273900 | OMIM:300367 | OMIM:313900 | OMIM:612004 MouseDO NCBI chr 2:55,621,585...55,781,206
Ensembl chr 2:55,632,698...55,779,629
JBrowse link
G Gata1 GATA binding protein 1 ISO ClinVar Annotator: match by term: Thrombocytopenia
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:11418466 PMID:16966598 PMID:20301538 PMID:23278136 PMID:25741868 More... RGD:10450735 NCBI chr  X:14,529,706...14,537,530
Ensembl chr  X:14,529,702...14,537,530
JBrowse link
G Gba glucosylceramidase beta ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:1348297 PMID:1897529 PMID:1899336 PMID:1971142 PMID:2117855 More... NCBI chr 2:174,609,437...174,615,457
Ensembl chr 2:174,609,403...174,618,263
JBrowse link
G Gfi1b growth factor independent 1B transcriptional repressor ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:25741868 PMID:31064749 NCBI chr 3:11,940,232...11,952,989
Ensembl chr 3:11,940,233...11,952,942
JBrowse link
G Gne glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:24796702 PMID:25741868 PMID:26980148 PMID:28320138 PMID:28492532 More... NCBI chr 5:58,267,189...58,307,396
Ensembl chr 5:58,267,210...58,307,499
JBrowse link
G Gp1ba glycoprotein Ib platelet subunit alpha ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar
RGD
PMID:8384898 PMID:25741868 PMID:31064749 PMID:11001906 RGD:10450849 NCBI chr10:55,352,938...55,355,804
Ensembl chr10:55,352,899...55,356,774
JBrowse link
G Gp1bb glycoprotein Ib platelet subunit beta ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Thrombocytopenia
CTD
ClinVar
PMID:10887115 PMID:15213848 PMID:25741868 PMID:31064749 PMID:32581362 NCBI chr11:82,378,216...82,379,393
Ensembl chr11:82,378,199...82,379,392
JBrowse link
G Gp9 glycoprotein IX (platelet) ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Thrombocytopenia
CTD
ClinVar
PMID:8049428 PMID:8481514 PMID:14510954 PMID:15225244 PMID:25370924 More... NCBI chr 4:120,235,539...120,236,874
Ensembl chr 4:120,235,421...120,237,110
JBrowse link
G Ifnl3 interferon, lambda 3 treatment ISO associated with Hepatitis C, Chronic;DNA:SNP: :rs8099917(human) RGD PMID:24304453 RGD:11528555 NCBI chr 1:83,814,456...83,816,096
Ensembl chr 1:83,814,564...83,816,096
JBrowse link
G Il10 interleukin 10 severity ISO associated with Malaria, Vivax RGD PMID:25128199 PMID:11091188 RGD:11041893, RGD:11049172 NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
JBrowse link
G Il1b interleukin 1 beta treatment ISO RGD PMID:1331350 RGD:10450883 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
JBrowse link
G Il3 interleukin 3 ISO CTD Direct Evidence: therapeutic CTD PMID:8202718 NCBI chr10:38,405,716...38,408,066
Ensembl chr10:38,405,716...38,408,066
JBrowse link
G Il6 interleukin 6 severity ISO associated with Malaria, Vivax RGD PMID:25128199 RGD:11041893 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
JBrowse link
G Itga2 integrin subunit alpha 2 ISO associated with Hantavirus Infections;DNA:SNP: :807C>T (rs1126643) (human) RGD PMID:22133274 RGD:11530072 NCBI chr 2:46,520,345...46,621,487
Ensembl chr 2:46,523,948...46,621,481
JBrowse link
G Itga2b integrin subunit alpha 2b ISO DNA:missense mutation: :p.R995W (human)
ClinVar Annotator: match by term: Thrombocytopenia
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:1638023 PMID:9834222 PMID:15225244 PMID:21454453 PMID:22102273 More... RGD:10755467 NCBI chr10:87,408,532...87,426,055
Ensembl chr10:87,408,536...87,426,168
JBrowse link
G Itgb3 integrin subunit beta 3 ISO DNA:splice-site mutation:intron:c.2134+1G>C (human)
ClinVar Annotator: match by term: Thrombocytopenia
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:15225244 PMID:25741868 PMID:31064749 PMID:32581362 PMID:19336737 RGD:10755449 NCBI chr10:89,509,917...89,564,679
Ensembl chr10:89,509,989...89,564,679
JBrowse link
G Itpa inosine triphosphatase treatment ISO associated with Hepatitis C;DNA:missense mutation, splice-site mutaion:exon, intron:p.P32T (rs1127354), rs7270101 (human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:18662289 PMID:24519039 RGD:10766473 NCBI chr 3:117,885,464...117,897,247
Ensembl chr 3:117,885,099...117,897,249
JBrowse link
G Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:32581362 NCBI chr11:31,580,951...31,594,116
Ensembl chr11:31,580,742...31,593,901
JBrowse link
G Kcne2 potassium voltage-gated channel subfamily E regulatory subunit 2 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:32581362 NCBI chr11:31,517,176...31,530,026
Ensembl chr11:31,295,614...31,530,043
JBrowse link
G LOC102556347 carbonyl reductase [NADPH] 1-like ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:32581362 NCBI chr11:32,892,640...32,895,277
Ensembl chr11:32,857,991...32,895,275
JBrowse link
G Mastl microtubule associated serine/threonine kinase-like ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar
RGD
PMID:25741868 PMID:28492532 PMID:12890928 RGD:1598951 NCBI chr17:85,250,512...85,287,479
Ensembl chr17:85,251,997...85,287,353
JBrowse link
G Mbl2 mannose binding lectin 2 susceptibility ISO associated with Dengue;DNA:SNP:exon: RGD PMID:18361938 RGD:11530042 NCBI chr 1:228,016,439...228,024,736 JBrowse link
G Mecom MDS1 and EVI1 complex locus ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:32581362 NCBI chr 2:112,909,353...113,464,583
Ensembl chr 2:112,909,321...113,464,590
JBrowse link
G Mpl MPL proto-oncogene, thrombopoietin receptor ameliorates ISO
IEP
congenital amegakaryocytic thrombocytopenia, OMIM:604498, DNA:point mutation:Q186X, frameshift:1499delT
ClinVar Annotator: match by term: Thrombocytopenia
associated with End Stage Liver Disease
associated with Lupus Erythematosus, Systemic
protein:decreased expression:blood, platelet (rat)
ClinVar
RGD
PMID:8073287 PMID:10971406 PMID:11133753 PMID:11972523 PMID:16199547 More... RGD:1600454, RGD:126925754, RGD:10449017, RGD:10449011, RGD:10448997 NCBI chr 5:131,973,897...131,987,472
Ensembl chr 5:131,973,895...131,986,797
JBrowse link
G Mrps6 mitochondrial ribosomal protein S6 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:32581362 NCBI chr11:31,295,358...31,348,483
Ensembl chr11:31,295,614...31,348,484
JBrowse link
G Mthfr methylenetetrahydrofolate reductase no_association ISO associated with Precursor Cell Lymphoblastic Leukemia-Lymphoma;DNA:SNP: :1298A>C (human)
CTD Direct Evidence: marker/mechanism
associated with Precursor Cell Lymphoblastic Leukemia-Lymphoma;DNA:SNP: :677C>T, 1793G>A (human)
CTD
RGD
PMID:19391036 PMID:23498762 PMID:23498762 RGD:10449418, RGD:10449418 NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
JBrowse link
G Myh9 myosin, heavy chain 9 ISO May-Hegglin anomaly, OMIM:155100, DNA:point mutation:exon:R1933X
ClinVar Annotator: match by term: Thrombocytopenia
ClinVar
RGD
PMID:1449176 PMID:11159552 PMID:11590545 PMID:12621333 PMID:12649151 More... RGD:1600553 NCBI chr 7:109,343,718...109,424,457
Ensembl chr 7:109,343,706...109,424,457
JBrowse link
G P2ry12 purinergic receptor P2Y12 ISO associated with Thrombosis RGD PMID:21652673 RGD:6480523 NCBI chr 2:143,481,468...143,523,340
Ensembl chr 2:143,481,430...143,523,361
JBrowse link
G Pecam1 platelet and endothelial cell adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10848805 NCBI chr10:91,590,521...91,652,279
Ensembl chr10:91,590,521...91,652,116
JBrowse link
G Pf4 platelet factor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8282825 PMID:9158107 PMID:9446652 PMID:10381515 PMID:11588041 More... NCBI chr14:17,298,438...17,299,148
Ensembl chr14:17,298,308...17,299,365
JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:11704759 PMID:11992261 PMID:12161469 PMID:12634870 PMID:12717436 More... NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925
JBrowse link
G Rcan1 regulator of calcineurin 1 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:32581362 NCBI chr11:31,622,208...31,702,150
Ensembl chr11:31,622,210...31,702,045
JBrowse link
G Runx1 RUNX family transcription factor 1 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar
RGD
PMID:10068652 PMID:10508512 PMID:11830488 PMID:17485549 PMID:17650443 More... RGD:11251691 NCBI chr11:31,839,880...32,074,427
Ensembl chr11:31,843,764...32,074,542
JBrowse link
G Setd4 SET domain containing 4 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:32581362 NCBI chr11:32,829,509...32,859,162
Ensembl chr11:32,838,063...32,858,243
JBrowse link
G Slc4a1 solute carrier family 4 member 1 (Diego blood group) ISO mRNA:decreased expression:erythrocyte (mouse) RGD PMID:22279059 RGD:10450520 NCBI chr10:87,306,865...87,323,132
Ensembl chr10:87,306,872...87,323,117
JBrowse link
G Slc5a3 solute carrier family 5 member 3 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:32581362 NCBI chr11:31,313,847...31,316,293
Ensembl chr11:31,295,476...31,318,883
JBrowse link
G Smim11 small integral membrane protein 11 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:32581362 NCBI chr11:31,533,257...31,543,002
Ensembl chr11:31,532,764...31,543,002
JBrowse link
G Sparc secreted protein acidic and cysteine rich ISO CTD Direct Evidence: marker/mechanism CTD PMID:27725143 NCBI chr10:39,516,394...39,538,252
Ensembl chr10:39,516,406...39,538,396
JBrowse link
G Tbxa2r thromboxane A2 receptor IMP RGD PMID:2528013 RGD:11059527 NCBI chr 7:8,383,347...8,390,753
Ensembl chr 7:8,383,378...8,388,176
JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO protein:decreased expression:plasma: RGD PMID:22134166 RGD:11073617 NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
JBrowse link
G Thbd thrombomodulin ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:28492532 NCBI chr 3:135,863,366...135,867,018
Ensembl chr 3:135,862,835...135,867,193
JBrowse link
G Thpo thrombopoietin ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:25741868 PMID:28466964 PMID:31064749 PMID:32150607 Ensembl chr11:80,182,820...80,188,167 JBrowse link
G Tnf tumor necrosis factor severity ISO associated with Hemorrhagic Fever with Renal Syndrome;DNA:SNP:promoter:-238G>A (human)
associated with Malaria, Vivax
RGD PMID:16987073 PMID:25128199 RGD:10449459, RGD:11041893 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
JBrowse link
G Tnfrsf10b TNF receptor superfamily member 10b ISO CTD Direct Evidence: marker/mechanism CTD PMID:19652058 NCBI chr15:44,839,818...44,867,582
Ensembl chr15:44,840,386...44,867,467
JBrowse link
G Tubb1 tubulin, beta 1 class VI ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:24777453 PMID:25741868 PMID:31064749 NCBI chr 3:163,247,990...163,257,460
Ensembl chr 3:163,247,967...163,256,063
JBrowse link
G Was WASP actin nucleation promoting factor ISS
ISO
OMIM:188000 | OMIM:273900 | OMIM:300367 | OMIM:313900 | OMIM:612004
ClinVar Annotator: match by term: Thrombocytopenia
MouseDO
ClinVar
PMID:7753869 PMID:8666397 PMID:8757563 PMID:9326235 PMID:11167787 More... NCBI chr  X:14,405,096...14,413,850
Ensembl chr  X:14,405,124...14,413,849
JBrowse link
G Wdr1 WD repeat domain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17515402 NCBI chr14:72,258,032...72,291,768
Ensembl chr14:72,257,956...72,291,766
JBrowse link
G Xdh xanthine dehydrogenase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Thrombocytopenia
CTD
ClinVar
PMID:2510358 PMID:25741868 PMID:28492532 NCBI chr 6:21,530,463...21,592,172
Ensembl chr 6:21,530,113...21,592,268
JBrowse link
G Yme1l1 YME1-like 1 ATPase ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar NCBI chr17:85,287,607...85,326,068
Ensembl chr17:85,287,554...85,326,335
JBrowse link
Thrombocytopenia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gata1 GATA binding protein 1 ISO associated with Beta-Thalassemia;DNA:missense mutation: :p.R216Q (human) RGD PMID:12200364 RGD:10450747 NCBI chr  X:14,529,706...14,537,530
Ensembl chr  X:14,529,702...14,537,530
JBrowse link
G Was WASP actin nucleation promoting factor ISO ClinVar Annotator: match by term: THROMBOCYTOPENIA, X-LINKED, 1
ClinVar Annotator: match by term: Thrombocytopenia, X-linked
ClinVar Annotator: match by OMIM:313900
OMIM
ClinVar
PMID:7753869 PMID:7795648 PMID:8528198 PMID:8528199 PMID:8595430 More... NCBI chr  X:14,405,096...14,413,850
Ensembl chr  X:14,405,124...14,413,849
JBrowse link
Thrombocytopenia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankrd26 ankyrin repeat domain containing 26 ISO ClinVar Annotator: match by term: Thrombocytopenia 2
DNA:mutations:5'utr:
OMIM
ClinVar
RGD
PMID:10521306 PMID:17666371 PMID:20626622 PMID:21211618 PMID:23677566 More... RGD:9681743 NCBI chr 4:151,670,604...151,740,032
Ensembl chr 4:151,672,037...151,739,968
JBrowse link
G Mastl microtubule associated serine/threonine kinase-like ISO ClinVar Annotator: match by OMIM:188000
ClinVar Annotator: match by term: Thrombocytopenia 2
ClinVar PMID:10891439 PMID:12890928 PMID:19460416 PMID:22102272 PMID:25741868 NCBI chr17:85,250,512...85,287,479
Ensembl chr17:85,251,997...85,287,353
JBrowse link
Thrombocytopenia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fyb1 FYN binding protein 1 ISO ClinVar Annotator: match by term: Thrombocytopenia 3 ClinVar
OMIM
PMID:25741868 PMID:25876182 NCBI chr 2:55,621,585...55,781,206
Ensembl chr 2:55,632,698...55,779,629
JBrowse link
Thrombocytopenia 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cycs cytochrome c, somatic ISO ClinVar Annotator: match by term: Thrombocytopenia 4
ClinVar Annotator: match by OMIM:612004
DNA:mutation:cds:c.145T>C(p.Y48H)(human)
OMIM
ClinVar
RGD
PMID:18345000 PMID:24326104 PMID:25741868 PMID:30051457 PMID:31064749 More... RGD:11352699 NCBI chr 4:79,651,894...79,653,994
Ensembl chr 4:79,651,378...79,654,054
JBrowse link
Thrombocytopenia 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Etv6 ETS variant transcription factor 6 ISO ClinVar Annotator: match by term: Thrombocytopenia 5 OMIM
ClinVar
PMID:17988997 PMID:25581430 PMID:25741868 PMID:25807284 PMID:28492532 More... NCBI chr 4:166,849,031...167,085,211
Ensembl chr 4:166,847,686...167,084,992
JBrowse link
Thrombocytopenia 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Src SRC proto-oncogene, non-receptor tyrosine kinase ISO ClinVar Annotator: match by term: Thrombocytopenia 6 OMIM
ClinVar
PMID:26936507 PMID:32581362 NCBI chr 3:146,091,969...146,139,492
Ensembl chr 3:146,091,841...146,139,476
JBrowse link
Thrombocytopenia 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agxt alanine--glyoxylate and serine--pyruvate aminotransferase ISO Hyperoxaluria, primary, type I (Oxalosis I) OMIA PMID:1672096 PMID:2394849 PMID:22486513 NCBI chr 9:93,675,384...93,685,337
Ensembl chr 9:93,675,384...93,685,336
JBrowse link
G Ikzf5 IKAROS family zinc finger 5 ISO ClinVar Annotator: match by term: THROMBOCYTOPENIA 7 ClinVar
OMIM
PMID:32419556 NCBI chr 1:186,169,108...186,188,847
Ensembl chr 1:186,170,788...186,188,834
JBrowse link
thrombocytopenia due to platelet alloimmunization term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fcgr3a Fc gamma receptor IIIa treatment ISO DNA:SNP:cds: RGD PMID:22775462 RGD:11040770 NCBI chr13:83,249,905...83,259,921
Ensembl chr13:83,249,872...83,259,921
JBrowse link
Thrombocytopenia, Anemia, and Myelofibrosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mpig6b megakaryocyte and platelet inhibitory receptor G6b ISO ClinVar Annotator: match by term: THROMBOCYTOPENIA, ANEMIA, AND MYELOFIBROSIS
ClinVar Annotator: match by term: Thrombocytopenia, anemia, and myelofibrosis
ClinVar
OMIM
PMID:25741868 PMID:27743390 NCBI chr20:3,757,396...3,761,024
Ensembl chr20:3,757,536...3,760,735
JBrowse link
thrombocytopenia-absent radius syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acp6 acid phosphatase 6, lysophosphatidic ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr 2:184,711,975...184,733,067
Ensembl chr 2:184,711,619...184,733,017
JBrowse link
G Ankrd34a ankyrin repeat domain 34A ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr 2:184,129,830...184,135,075
Ensembl chr 2:184,129,238...184,135,116
JBrowse link
G Ankrd35 ankyrin repeat domain 35 ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr 2:184,207,076...184,227,063
Ensembl chr 2:184,207,071...184,227,063
JBrowse link
G Bcl9 BCL9, transcription coactivator ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr 2:184,760,616...184,846,261
Ensembl chr 2:184,760,618...184,786,435
JBrowse link
G Cd160 CD160 molecule ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr 2:184,340,820...184,383,421
Ensembl chr 2:184,340,599...184,375,834
JBrowse link
G Chd1l chromodomain helicase DNA binding protein 1-like ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr 2:185,138,526...185,217,498
Ensembl chr 2:185,139,308...185,217,595
JBrowse link
G Fmo5 flavin containing dimethylaniline monoxygenase 5 ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr 2:185,197,184...185,249,699
Ensembl chr 2:185,222,204...185,249,693
JBrowse link
G Gja5 gap junction protein, alpha 5 ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr 2:184,602,407...184,621,952
Ensembl chr 2:184,564,475...184,621,952
JBrowse link
G Gja8 gap junction protein, alpha 8 ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr 2:184,490,840...184,492,456
Ensembl chr 2:184,490,840...184,492,456
JBrowse link
G Gpr89b G protein-coupled receptor 89B ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr 2:184,408,136...184,445,560
Ensembl chr 2:184,401,438...184,445,584
JBrowse link
G Hjv hemojuvelin BMP co-receptor ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr 2:184,065,970...184,069,851
Ensembl chr 2:184,065,970...184,069,850
JBrowse link
G Itga10 integrin subunit alpha 10 ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr 2:184,182,869...184,202,172
Ensembl chr 2:184,182,869...184,202,172
JBrowse link
G Lix1l limb and CNS expressed 1 like ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr 2:184,136,018...184,161,918
Ensembl chr 2:184,136,038...184,161,916
JBrowse link
G LOC100911252 peptidyl-prolyl cis-trans isomerase A-like ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr 4:41,828,873...41,829,619
Ensembl chr 4:41,828,867...41,829,622
JBrowse link
G LOC120098377 U1 spliceosomal RNA ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr18:79,901,335...79,901,477 JBrowse link
G Nudt17 nudix hydrolase 17 ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr 2:184,241,468...184,243,960
Ensembl chr 2:184,241,468...184,243,960
JBrowse link
G Pdzk1 PDZ domain containing 1 ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr 2:184,376,161...184,407,514
Ensembl chr 2:184,376,161...184,407,514
JBrowse link
G Pex11b peroxisomal biogenesis factor 11 beta ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr 2:184,172,041...184,180,972
Ensembl chr 2:184,172,004...184,181,495
JBrowse link
G Pias3 protein inhibitor of activated STAT, 3 ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr 2:184,232,546...184,241,455
Ensembl chr 2:184,232,571...184,241,480
JBrowse link
G Polr3c RNA polymerase III subunit C ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr 2:184,246,201...184,262,150
Ensembl chr 2:184,246,204...184,262,208
JBrowse link
G Polr3gl RNA polymerase III subunit GL ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr 2:184,111,570...184,129,200
Ensembl chr 2:184,112,510...184,129,114
JBrowse link
G Ppial4g peptidylprolyl isomerase A like 4G ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr15:74,015,628...74,016,215
Ensembl chr15:74,015,628...74,016,215
JBrowse link
G Prkab2 protein kinase AMP-activated non-catalytic subunit beta 2 ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr 2:185,257,218...185,272,846
Ensembl chr 2:185,257,213...185,269,872
JBrowse link
G Rbm8a RNA binding motif protein 8A ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:274000
OMIM
ClinVar
CTD
PMID:9536098 PMID:16501574 PMID:17236129 PMID:17576681 PMID:22366785 More... NCBI chr 2:184,165,189...184,167,959
Ensembl chr 2:184,165,193...184,167,959
JBrowse link
G Rnf115 ring finger protein 115 ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr 2:184,262,087...184,329,841
Ensembl chr 2:184,262,371...184,329,823
JBrowse link
G Txnip thioredoxin interacting protein ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr 2:184,093,079...184,096,882
Ensembl chr 2:184,092,991...184,096,886
JBrowse link
Thrombocytopenic Purpura term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gp9 glycoprotein IX (platelet) ISO RGD PMID:23103637 RGD:11040532 NCBI chr 4:120,235,539...120,236,874
Ensembl chr 4:120,235,421...120,237,110
JBrowse link
G Itga2b integrin subunit alpha 2b ISO RGD PMID:11493456 RGD:2316362 NCBI chr10:87,408,532...87,426,055
Ensembl chr10:87,408,536...87,426,168
JBrowse link
G Itgb3 integrin subunit beta 3 ISO associated with HIV Infections RGD PMID:11493456 PMID:8565280 RGD:2316362, RGD:10755471 NCBI chr10:89,509,917...89,564,679
Ensembl chr10:89,509,989...89,564,679
JBrowse link
G Vwf von Willebrand factor ISO RGD PMID:14727254 RGD:1580644 NCBI chr 4:158,360,152...158,491,539
Ensembl chr 4:158,360,152...158,491,539
JBrowse link
thrombocytosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Calr calreticulin ISO human gene in a mouse model;DNA:deletion, insertion:cds:c.1179_1230del, c.1234_1235insTTGTC (human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:26608331 RGD:11352752 NCBI chr19:23,308,525...23,313,420
Ensembl chr19:23,308,351...23,313,414
JBrowse link
G Cpb2 carboxypeptidase B2 ISO RGD PMID:16244771 RGD:1598473 NCBI chr15:50,557,722...50,606,569
Ensembl chr15:50,557,717...50,606,556
JBrowse link
G Epor erythropoietin receptor ISO RGD PMID:8400289 RGD:11041647 NCBI chr 8:20,489,678...20,494,257
Ensembl chr 8:20,489,678...20,494,257
JBrowse link
G Il1b interleukin 1 beta ISO RGD PMID:2265245 RGD:10450885 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
JBrowse link
G Jak2 Janus kinase 2 ISO
IAGP
essential thrombocythemia, OMIM:187950
associated with Budd-Chiari syndrome;DNA:missense mutation:cds:p.V617F
CTD Direct Evidence: marker/mechanism
DNA:point mutations: :p.S755R, p.R938Q (human)
CTD
RGD
PMID:19287382 PMID:19287384 PMID:15781101 PMID:22467227 PMID:24398328 RGD:1627655, RGD:15039391, RGD:10449375 NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189
JBrowse link
G Mpl MPL proto-oncogene, thrombopoietin receptor ISO DNA:mutation:cds:c.317C > T,p.P106L(human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:15813844 PMID:16484586 PMID:19036112 RGD:11073684 NCBI chr 5:131,973,897...131,987,472
Ensembl chr 5:131,973,895...131,986,797
JBrowse link
G Pcdha1 protocadherin alpha 1 ISO ClinVar Annotator: match by term: Thrombocytosis ClinVar PMID:25741868 Ensembl chr18:28,581,225...28,846,211 JBrowse link
G Pcdha10 protocadherin alpha 10 ISO ClinVar Annotator: match by term: Thrombocytosis ClinVar PMID:25741868
G Pcdha2 protocadherin alpha 2 ISO ClinVar Annotator: match by term: Thrombocytosis ClinVar PMID:25741868 Ensembl chr18:28,581,225...28,846,211 JBrowse link
G Pcdha3 protocadherin alpha 3 ISO ClinVar Annotator: match by term: Thrombocytosis ClinVar PMID:25741868
G Pcdha4 protocadherin alpha 4 ISO ClinVar Annotator: match by term: Thrombocytosis ClinVar PMID:25741868 NCBI chr18:28,581,040...28,846,214
Ensembl chr18:28,581,225...28,846,211
JBrowse link
G Pcdha5 protocadherin alpha 5 ISO ClinVar Annotator: match by term: Thrombocytosis ClinVar PMID:25741868
G Pcdha6 protocadherin alpha 6 ISO ClinVar Annotator: match by term: Thrombocytosis ClinVar PMID:25741868 Ensembl chr18:28,581,225...28,846,211 JBrowse link
G Pcdha7 protocadherin alpha 7 ISO ClinVar Annotator: match by term: Thrombocytosis ClinVar PMID:25741868
G Pcdha8 protocadherin alpha 8 ISO ClinVar Annotator: match by term: Thrombocytosis ClinVar PMID:25741868 Ensembl chr18:28,581,225...28,846,211 JBrowse link
G Pcdha9 protocadherin alpha 9 ISO ClinVar Annotator: match by term: Thrombocytosis ClinVar PMID:25741868
G Sh2b3 SH2B adaptor protein 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr12:34,749,849...34,753,616
Ensembl chr12:34,731,911...34,753,616
JBrowse link
G Thpo thrombopoietin susceptibility ISO DNA:deletion:5' utr
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:15813844 PMID:33122006 PMID:9694695 RGD:1601655 Ensembl chr11:80,182,820...80,188,167 JBrowse link
Thrombocytosis, Benign Familial Microcytic term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mpl MPL proto-oncogene, thrombopoietin receptor ISO ClinVar Annotator: match by term: Thrombocytosis, benign familial microcytic ClinVar PMID:8073287 PMID:11133753 PMID:14764528 PMID:15269348 PMID:16199547 More... NCBI chr 5:131,973,897...131,987,472
Ensembl chr 5:131,973,895...131,986,797
JBrowse link
Thrombotic Microangiopathies term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamts13 ADAM metallopeptidase with thrombospondin type 1 motif, 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14625834 PMID:16388419 NCBI chr 3:10,299,264...10,338,464
Ensembl chr 3:10,300,028...10,346,687
JBrowse link
G C3 complement C3 treatment IDA RGD PMID:11532096 RGD:5129554 NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429
JBrowse link
G Cfh complement factor H ISO associated with Kidney Failure, Chronic;DNA:missense mutations:exon:p.N516K (c.1548T>A), p.Q950H (c.2850G>T), p.K1186H (c.3557A>C) (human) RGD PMID:18557729 RGD:11041165 NCBI chr13:51,512,376...51,613,829
Ensembl chr13:51,511,828...51,613,838
JBrowse link
G Cfi complement factor I ISO associated with Kidney Failure, Chronic;DNA:missense mutations, splice-site mutation:exon:multiple RGD PMID:18557729 RGD:11041165 NCBI chr 2:218,389,079...218,430,565
Ensembl chr 2:218,387,990...218,430,561
JBrowse link
G Cpb2 carboxypeptidase B2 ISO DNA:polymorphism: ;1542C>G(human) RGD PMID:17327284 RGD:7243121 NCBI chr15:50,557,722...50,606,569
Ensembl chr15:50,557,717...50,606,556
JBrowse link
G F3 coagulation factor III, tissue factor ISO RGD PMID:19535796 RGD:11341690 NCBI chr 2:209,827,061...209,838,666
Ensembl chr 2:209,826,959...209,838,668
JBrowse link
G Fgg fibrinogen gamma chain ISO RGD PMID:17038160 RGD:11352673 NCBI chr 2:168,354,880...168,362,325
Ensembl chr 2:168,355,013...168,362,322
JBrowse link
G Itgb3 integrin subunit beta 3 ISO associated with Chronic Allograft Dysfunction;protein:increased expression:arteriole RGD PMID:18234279 RGD:10755463 NCBI chr10:89,509,917...89,564,679
Ensembl chr10:89,509,989...89,564,679
JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility ISO DNA:transition:cds:g.677C>T (human) RGD PMID:19448163 RGD:6893633 NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
JBrowse link
G Nos2 nitric oxide synthase 2 IEP protein:Increased expression:kidney:neutrophil, endothelial cell, kidney: RGD PMID:10908153 RGD:11533936 NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
JBrowse link
G Nos3 nitric oxide synthase 3 IEP protein:decreased expression:kidney: RGD PMID:10908153 RGD:11533936 NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
JBrowse link
G Vegfa vascular endothelial growth factor A ISO CTD Direct Evidence: marker/mechanism CTD PMID:22808199 NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
JBrowse link
G Vwf von Willebrand factor disease_progression ISO protein:increased expression:plasma RGD PMID:21153061 PMID:20439183 RGD:7205650, RGD:7207026 NCBI chr 4:158,360,152...158,491,539
Ensembl chr 4:158,360,152...158,491,539
JBrowse link
thrombotic thrombocytopenic purpura term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamts13 ADAM metallopeptidase with thrombospondin type 1 motif, 13 ISO ClinVar Annotator: match by term: Upshaw-Schulman syndrome
ClinVar Annotator: match by term: Thrombotic thrombocytopenic purpura
ClinVar Annotator: match by OMIM:274150
CTD Direct Evidence: marker/mechanism
Adult Onset Purpura, Thrombotic Thrombocytopenic;DNA:missense mutation:cds:p.R1060W (human)
DNA:mutations:multiple (human)
protein:decreased activity:plasma (human)
OMIM
ClinVar
CTD
RGD
PMID:6433703 PMID:7094941 PMID:11563771 PMID:11586351 PMID:12181489 More... RGD:10449043, RGD:1598736, RGD:10449037, RGD:10449028 NCBI chr 3:10,299,264...10,338,464
Ensembl chr 3:10,300,028...10,346,687
JBrowse link
G Cd36 CD36 molecule ISO RGD PMID:7529543 RGD:11041104 NCBI chr 4:17,317,343...17,410,084
Ensembl chr 4:17,354,466...17,513,903
JBrowse link
G F3 coagulation factor III, tissue factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:7740478 NCBI chr 2:209,827,061...209,838,666
Ensembl chr 2:209,826,959...209,838,668
JBrowse link
G Proc protein C, inactivator of coagulation factors Va and VIIIa ISO RGD PMID:10936861 RGD:11100014 NCBI chr18:23,764,367...23,774,816
Ensembl chr18:23,764,368...23,775,133
JBrowse link
G RT1-Bb RT1 class II, locus Bb ISO DNA:polymorphisms:cds:HLA-DQB1*0301 (human) RGD PMID:19922436 RGD:11041754 NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
JBrowse link
G Tfpi tissue factor pathway inhibitor treatment ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:7740478 PMID:7740478 RGD:11340214 NCBI chr 3:69,533,156...69,582,547
Ensembl chr 3:69,533,156...69,576,880
JBrowse link
G Thbd thrombomodulin ISO CTD Direct Evidence: marker/mechanism CTD PMID:7740478 NCBI chr 3:135,863,366...135,867,018
Ensembl chr 3:135,862,835...135,867,193
JBrowse link
Thrombotic Thrombocytopenic Purpura, Acquired term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamts13 ADAM metallopeptidase with thrombospondin type 1 motif, 13 treatment ISO human protein in a rat model RGD PMID:9828246 PMID:26338302 RGD:10449039, RGD:10449097 NCBI chr 3:10,299,264...10,338,464
Ensembl chr 3:10,300,028...10,346,687
JBrowse link
G Vwf von Willebrand factor treatment ISO RGD PMID:26863353 RGD:11079195 NCBI chr 4:158,360,152...158,491,539
Ensembl chr 4:158,360,152...158,491,539
JBrowse link
Von Willebrand Factor, Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mcfd2 multiple coagulation factor deficiency 2, ER cargo receptor complex subunit ISO ClinVar Annotator: match by term: Reduced von Willebrand factor activity ClinVar PMID:32581362 NCBI chr 6:7,274,469...7,285,841
Ensembl chr 6:7,274,469...7,285,841
JBrowse link
G Vwf von Willebrand factor ISO ClinVar Annotator: match by term: Reduced von Willebrand factor activity ClinVar PMID:3257148 PMID:8456430 PMID:9253800 PMID:10669167 PMID:11756169 More... NCBI chr 4:158,360,152...158,491,539
Ensembl chr 4:158,360,152...158,491,539
JBrowse link
von Willebrand's disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F3 coagulation factor III, tissue factor ISO RGD PMID:4546024 RGD:11341671 NCBI chr 2:209,827,061...209,838,666
Ensembl chr 2:209,826,959...209,838,668
JBrowse link
G Vwf von Willebrand factor treatment ISO
ISS
ClinVar Annotator: match by term: Von Willebrand disease, recessive form
ClinVar Annotator: match by term: von Willebrand disorder
ClinVar Annotator: match by term: von Willebrand Diseases
ClinVar
MouseDO
RGD
PMID:1301136 PMID:1302613 PMID:1324533 PMID:1380739 PMID:1415226