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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
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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 26 ISO ClinVar Annotator: match by term: Platelet disorder ClinVar PMID:23677566 PMID:25741868 PMID:31064749 NCBI chr 4:150,548,656...150,616,928
Ensembl chr 4:150,547,467...150,616,895
JBrowse link
G Cd36 CD36 molecule ISO CD36 deficiency, OMIM:608404, DNA:point mutation, frameshift mutation
ClinVar Annotator: match by term: Platelet disorder
ClinVar PMID:7533783 PMID:7686693 PMID:10946357 PMID:11019968 PMID:11718687 PMID:11950861 PMID:15282206 PMID:24033266 PMID:24917573 PMID:24960640 PMID:25798958, PMID:11950861 RGD:1600629 NCBI chr 4:14,150,309...14,191,498
Ensembl chr 4:14,001,761...14,249,749
JBrowse link
G Fermt3 FERM domain containing kindlin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18278053 NCBI chr 1:222,254,183...222,272,775
Ensembl chr 1:222,254,184...222,272,285
JBrowse link
G Pla2g4a phospholipase A2 group IVA ISO CTD Direct Evidence: marker/mechanism CTD PMID:18451993 NCBI chr13:67,062,252...67,206,688
Ensembl chr13:66,988,937...67,206,693
JBrowse link
G Runx1 RUNX family transcription factor 1 ISO ClinVar Annotator: match by term: Platelet disorder ClinVar PMID:10508512 PMID:11830488 PMID:23848403 PMID:25741868 PMID:25840971 PMID:26175287 PMID:28960434 NCBI chr11:32,765,147...33,003,061
Ensembl chr11:32,769,165...33,003,021
JBrowse link
G Stxbp2 syntaxin binding protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30696774 NCBI chr12:2,180,101...2,191,863
Ensembl chr12:2,180,150...2,191,175
JBrowse link
G Tbxa2r thromboxane A2 receptor ISO DNA:mutation:cds:p.R60L(human)
CTD Direct Evidence: marker/mechanism
CTD PMID:7929844 PMID:19828703, PMID:7929844 RGD:1578439 NCBI chr 7:11,253,153...11,259,233
Ensembl chr 7:11,253,180...11,257,977
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) RGD PMID:12640381 RGD:10449096 NCBI chr 3:5,519,921...5,558,390
Ensembl chr 3:5,519,990...5,558,166
JBrowse link
G Baat bile acid CoA:amino acid N-acyltransferase ISO ClinVar Annotator: match by term: atypical hemolytic uremic syndrome ClinVar NCBI chr 5:64,768,397...64,777,368
Ensembl chr 5:64,768,401...64,777,368
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 PMID:18806293 PMID:20108004 PMID:20513133 PMID:21541267 PMID:22440158 PMID:24033266 PMID:24652797 PMID:25741868 NCBI chr20:4,542,340...4,561,152
Ensembl chr20:4,542,340...4,561,152
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
PMID:1976733 PMID:14639503 PMID:17634448 PMID:18325906 PMID:18796626 PMID:19168221 PMID:20301541 PMID:20595690 PMID:23314101 PMID:23431077 PMID:24036949 PMID:24036950 PMID:24036952 PMID:24736606 PMID:24845532 PMID:25608561 PMID:25741868 PMID:25951460 PMID:26613027 PMID:28492532, PMID:17517971, PMID:20513133 RGD:7364995, RGD:11040768 NCBI chr 9:9,721,137...9,747,084
Ensembl chr 9:9,721,105...9,747,167
JBrowse link
G C3ar1 complement C3a receptor 1 ISO ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1 ClinVar NCBI chr 4:155,681,767...155,691,240
Ensembl chr 4:155,684,029...155,690,869
JBrowse link
G Cd46 CD46 molecule susceptibility
severity
ISO ClinVar Annotator: match by OMIM:612922
ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2
ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome
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
PMID:270646 PMID:3480783 PMID:9551389 PMID:10528197 PMID:14566051 PMID:14615110 PMID:16621965 PMID:16762990 PMID:16882452 PMID:17089378 PMID:20513133 PMID:21706448 PMID:23431077 PMID:23731345 PMID:24033266 PMID:24161037 PMID:24247905 PMID:24944786 PMID:25381125 PMID:25525159 PMID:25741868 PMID:25899302 PMID:26054645 PMID:26307634 PMID:26559391 PMID:28056875 PMID:28492532, PMID:16353080, PMID:20513133, PMID:17914026, PMID:20595690 RGD:11352810, RGD:11040768, RGD:11352768, RGD:11038684 NCBI chr13:113,786,525...113,818,741
Ensembl chr13:113,787,349...113,817,995
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 Annotator: match by OMIM:612924
ClinVar
OMIM
CTD
PMID:2249879 PMID:6308626 PMID:7452889 PMID:8181962 PMID:15661753 PMID:16518403 PMID:16936732 PMID:17182750 PMID:18806293 PMID:20108004 PMID:20513133 PMID:21541267 PMID:22440158 PMID:23847193 PMID:24033266 PMID:24652797 PMID:25741868 PMID:26054779, PMID:17182750, PMID:20513133 RGD:7242707, RGD:11040768 NCBI chr20:4,536,206...4,542,073
Ensembl chr20:4,536,203...4,561,066
Ensembl chr20:4,536,203...4,561,066
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: AHUS, SUSCEPTIBILITY TO, 4
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
PMID:646435 PMID:8072530 PMID:9551389 PMID:9811382 PMID:9848786 PMID:10577907 PMID:10762557 PMID:11158219 PMID:11170895 PMID:11170896 PMID:11978762 PMID:12424708 PMID:12697737 PMID:14978182 PMID:15761120 PMID:15870199 PMID:16299065 PMID:16619239 PMID:17018561 PMID:17947292 PMID:18252712 PMID:18268093 PMID:18557729 PMID:19190809 PMID:19259132 PMID:19297022 PMID:21415311 PMID:21909106 PMID:22019782 PMID:22171659 PMID:22223606 PMID:22389686 PMID:22403278 PMID:22456601 PMID:23852337 PMID:24036949 PMID:24498017 PMID:25037630 PMID:25741868 PMID:25814826 PMID:25880396 PMID:26559391 PMID:28492532, PMID:10577907, PMID:9811382, PMID:23243267, PMID:20513133, PMID:17517971, PMID:17517971, PMID:17517971 RGD:1599886, RGD:11041172, RGD:11041162, RGD:11040768, RGD:7364995, RGD:7364995, RGD:7364995 NCBI chr13:56,979,155...57,080,540
Ensembl chr13:56,978,607...57,080,622
JBrowse link
G Cfhr1 complement factor H-related 1 susceptibility ISO ClinVar Annotator: match by OMIM:235400
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to
DNA:deletion
ClinVar
CTD
OMIM
PMID:16998489 PMID:17367211 PMID:18006700 PMID:20843825, PMID:23243267 RGD:11041162 NCBI chr13:56,862,666...56,877,650
Ensembl chr13:56,836,994...56,877,650
JBrowse link
G Cfi complement factor I susceptibility ISO ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5
ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:612923
ClinVar
CTD
OMIM
PMID:15173250 PMID:16621965 PMID:18557729 PMID:18825487 PMID:19877009 PMID:20016463 PMID:20106822 PMID:20203157 PMID:20513133 PMID:20595690 PMID:22710145 PMID:23307876 PMID:23314101 PMID:23431077 PMID:23685748 PMID:23787556 PMID:24033266 PMID:24034049 PMID:24036952 PMID:24161037 PMID:25037630 PMID:25135378 PMID:25741868 PMID:25758434 PMID:27268256 PMID:28282489 PMID:28492532, PMID:15173250 RGD:6906889 NCBI chr 2:235,264,149...235,305,779
Ensembl chr 2:235,264,219...235,305,781
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 chr10:76,375,981...76,408,224
Ensembl chr10:76,386,471...76,407,989
JBrowse link
G RGD1564614 similar to complement factor H-related protein susceptibility ISO ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to
ClinVar
CTD
OMIM
PMID:16998489 PMID:17367211 PMID:18006700 PMID:20843825 NCBI chr13:56,889,669...56,958,549
Ensembl chr13:56,889,669...56,958,561
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
PMID:7811989 PMID:10460600 PMID:11986219 PMID:12139752 PMID:17677000 PMID:19625716 PMID:23332921 PMID:24933457 PMID:25135378 PMID:25741868 PMID:28492532, PMID:19625716, PMID:19625716, PMID:20595690 RGD:11038691, RGD:11038691, RGD:11038684 NCBI chr 3:142,748,673...142,752,325
Ensembl chr 3:142,748,674...142,752,325
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 3:5,519,921...5,558,390
Ensembl chr 3:5,519,990...5,558,166
JBrowse link
G Alb albumin ISO RGD PMID:6683982 RGD:11036083 NCBI chr14:19,176,275...19,191,793
Ensembl chr14:19,176,277...19,191,863
JBrowse link
G Cd40 CD40 molecule ISO protein:increased expression:peripheral blood, B lymphocyte (human) RGD PMID:17654056 RGD:11344977 NCBI chr 3:161,519,789...161,534,943
Ensembl chr 3:161,519,743...161,534,704
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:159,703,703...159,714,886
Ensembl chr  X:159,703,578...159,716,562
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 chr11:67,060,305...67,117,990
Ensembl chr11:67,082,193...67,118,795
JBrowse link
G Dnmt3a DNA methyltransferase 3 alpha ISO mRNA:decreased expression:mononuclear cell RGD PMID:18683034 RGD:9588662 NCBI chr 6:28,205,375...28,346,052
Ensembl chr 6:28,235,695...28,340,577
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 3:149,131,541...149,170,061
Ensembl chr 3:149,131,785...149,208,786
JBrowse link
G Fas Fas cell surface death receptor ISO protein:increased expression:serum: RGD PMID:10776692 RGD:11049162 NCBI chr 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790
JBrowse link
G Fcgr2a Fc fragment of IgG 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 chr13:91,146,878...91,163,691
Ensembl chr13:91,168,973...91,198,036
Ensembl chr13:91,168,973...91,198,036
JBrowse link
G Fcgr2b Fc fragment of IgG 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 chr13:89,329,298...89,343,916
Ensembl chr13:89,327,794...89,433,815
JBrowse link
G Fcgr3a Fc fragment of IgG 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 chr13:89,385,775...89,396,047
Ensembl chr13:89,385,859...89,396,051
JBrowse link
G Gp1ba glycoprotein Ib platelet subunit alpha ISO RGD PMID:16861348 RGD:10450841 NCBI chr10:57,260,680...57,263,546
Ensembl chr10:57,260,680...57,263,546
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 chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
JBrowse link
G Il18 interleukin 18 ISO protein:increased expression:plasma: RGD PMID:24801815 RGD:11073600 NCBI chr 8:55,009,666...55,016,286
Ensembl chr 8:54,993,859...55,016,299
JBrowse link
G Il1a interleukin 1 alpha ISO DNA:SNP:promoter:-899C>T (human) RGD PMID:21591983 RGD:11051966 NCBI chr 3:121,824,712...121,836,122
Ensembl chr 3:121,825,412...121,836,086
JBrowse link
G Il1rn interleukin 1 receptor antagonist susceptibility ISO DNA:repeats:: RGD PMID:20626741 RGD:11528541 NCBI chr 3:1,449,778...1,468,624
Ensembl chr 3:1,452,644...1,468,614
JBrowse link
G Il2 interleukin 2 susceptibility ISO DNA:polymorphism::-330T>G(human) RGD PMID:20626741 RGD:11528541 NCBI chr 2:123,847,150...123,851,854
Ensembl chr 2:123,847,150...123,851,854
JBrowse link
G Il4 interleukin 4 disease_progression ISO DNA:repeat:intron RGD PMID:25051072 RGD:11041894 NCBI chr10:38,963,979...38,969,531
Ensembl chr10:38,963,979...38,969,531
JBrowse link
G Itgb3 integrin subunit beta 3 ISO RGD PMID:10936026, PMID:24258817 RGD:10755473, RGD:10755475 NCBI chr10:92,667,869...92,783,413
Ensembl chr10:92,667,869...92,783,410
JBrowse link
G Mir130a microRNA 130a ISO RNA:decreased expression:PBMC RGD PMID:24801815 RGD:11073600 NCBI chr 3:72,141,037...72,141,124
Ensembl chr 3:72,141,037...72,141,124
JBrowse link
G Mir3581 microRNA 3581 treatment ISO RGD PMID:23360331 RGD:10755694 NCBI chr 6:133,893,418...133,893,497
Ensembl chr 6:133,893,418...133,893,497
JBrowse link
G Mir409 microRNA 409 treatment ISO RGD PMID:23360331 RGD:10755694 NCBI chr 6:133,893,419...133,893,495 JBrowse link
G Plat plasminogen activator, tissue type ISO protein:increased expression:plasma (human) RGD PMID:2129164 RGD:11541072 NCBI chr16:74,098,263...74,122,897
Ensembl chr16:74,098,260...74,122,889
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 2:206,342,066...206,390,348
Ensembl chr 2:206,342,066...206,390,348
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 chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
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 chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
JBrowse link
G Socs1 suppressor of cytokine signaling 1 ISO ClinVar Annotator: match by term: Autoimmune thrombocytopenia ClinVar NCBI chr10:4,956,795...4,958,472
Ensembl chr10:4,957,326...4,958,461
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 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
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: MACROTHROMBOCYTOPENIA, AUTOSOMAL DOMINANT, TUBB1-RELATED OMIM
ClinVar
PMID:18849486 PMID:25741868 PMID:31064749 NCBI chr 3:172,550,252...172,558,089
Ensembl chr 3:172,550,258...172,558,114
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:11023810 PMID:11590545 PMID:11752022 PMID:12533692 PMID:16969870 PMID:17146397 PMID:18059020 PMID:18676005 PMID:19557653 PMID:20588287 PMID:22123909 PMID:22477015 PMID:22995991 PMID:23144074 PMID:23349334 PMID:23409987 PMID:23804846 PMID:24033266 PMID:24130771 PMID:24186861 PMID:24643058 PMID:24890873 PMID:25077172 PMID:25505834 PMID:25741868 PMID:25752595 PMID:25949529 PMID:26226608 PMID:26346198 PMID:26467025 PMID:26969326 PMID:27068579 PMID:28059092 PMID:28492532 PMID:29090586 PMID:30720677 PMID:31064749 NCBI chr 7:118,740,005...118,792,507
Ensembl chr 7:118,741,110...118,792,625
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
PMID:25741868, PMID:11776304, PMID:19404517, PMID:22044935, PMID:10089893, PMID:10996832, PMID:21173099, PMID:23995613 RGD:10450843, RGD:10450834, RGD:10450833, RGD:10450819, RGD:10450809, RGD:10450798, RGD:10450796 NCBI chr10:57,260,680...57,263,546
Ensembl chr10:57,260,680...57,263,546
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
PMID:10887115 PMID:25741868 PMID:31064749 PMID:32581362, PMID:28131619, PMID:12945881, PMID:17095718, PMID:9116284 RGD:13464128, RGD:11040530, RGD:11040529, RGD:11040528 NCBI chr11:86,520,992...86,522,169
Ensembl chr11:86,520,992...86,522,169
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
PMID:8049428 PMID:8481514 PMID:11167791 PMID:14510954 PMID:21173099 PMID:21699652 PMID:25370924 PMID:25741868 PMID:28131619 PMID:28492532 PMID:28765788 PMID:31064749 PMID:32581362, PMID:28131619, PMID:8972003 RGD:13464128, RGD:11040531 NCBI chr 4:119,680,671...119,682,006
Ensembl chr 4:119,680,112...119,682,547
JBrowse link
G Vwf von Willebrand factor ISO RGD PMID:14717981 RGD:1580643 NCBI chr 4:158,085,059...158,219,525
Ensembl chr 4:158,088,505...158,219,523
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 chr10:57,260,680...57,263,546
Ensembl chr10:57,260,680...57,263,546
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 chr10:57,260,680...57,263,546
Ensembl chr10:57,260,680...57,263,546
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 PMID:25741868 NCBI chr10:57,260,680...57,263,546
Ensembl chr10:57,260,680...57,263,546
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 PMID:25741868 PMID:31064749 PMID:32581362 NCBI chr11:86,520,992...86,522,169
Ensembl chr11:86,520,992...86,522,169
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 PMID:28131619 PMID:28492532 PMID:28765788 PMID:31064749 NCBI chr 4:119,680,671...119,682,006
Ensembl chr 4:119,680,112...119,682,547
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 PMID:8049428 PMID:8481514 PMID:9163595 PMID:9886312 PMID:11167791 PMID:12100158 PMID:13442197 PMID:14510954 PMID:21173099 PMID:21699652 PMID:25370924 PMID:25741868 PMID:28131619 PMID:28395735 PMID:28492532 PMID:28765788 PMID:29636940 PMID:31064749 PMID:32581362, PMID:8481514 RGD:1599275 NCBI chr 4:119,680,671...119,682,006
Ensembl chr 4:119,680,112...119,682,547
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:10077649 PMID:10971406 PMID:11071383 PMID:11133753 PMID:11392330 PMID:11972523 PMID:15269348 PMID:15531462 PMID:16219544 PMID:16470591 PMID:16834459 PMID:16868251 PMID:17054430 PMID:17666371 PMID:18240171 PMID:18422784 PMID:19036112 PMID:19302922 PMID:20188141 PMID:21162090 PMID:21225925 PMID:21228398 PMID:21489838 PMID:21659346 PMID:22180433 PMID:22389068 PMID:23103231 PMID:23625800 PMID:24033266 PMID:24119002 PMID:24438083 PMID:24728327 PMID:25538044 PMID:25741868 PMID:26854587 PMID:27418648 PMID:27449473 PMID:27854218 PMID:28492532 PMID:28697167 PMID:28859041 PMID:29384262 PMID:31064749 PMID:32581362 PMID:32703794 NCBI chr 5:137,268,412...137,282,032
Ensembl chr 5:137,269,480...137,281,298
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 8:123,303,910...123,370,729
Ensembl chr 8:123,293,057...123,371,257
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 1:263,554,426...263,612,556
Ensembl chr 1:263,554,453...263,613,252
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 2:221,823,692...222,694,627
Ensembl chr 2:221,823,687...222,694,627
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 2:210,803,869...210,809,461
Ensembl chr 2:210,803,869...210,809,306
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 chr20:13,799,102...13,816,527
Ensembl chr20:13,799,102...13,816,526
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 3:121,824,712...121,836,122
Ensembl chr 3:121,825,412...121,836,086
JBrowse link
G Il1b interleukin 1 beta treatment ISO associated with Glioblastoma; RGD PMID:1331350 RGD:10450883 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
JBrowse link
G Pecam1 platelet and endothelial cell adhesion molecule 1 severity ISO RGD PMID:10942385, PMID:17234740 RGD:11541093, RGD:11541120 NCBI chr10:94,850,971...94,913,202 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 6:129,449,451...129,519,599
Ensembl chr 6:129,449,449...129,509,720
JBrowse link
G Bdkrb1 bradykinin receptor B1 ISO ClinVar Annotator: match by term: Essential thrombocythemia ClinVar NCBI chr 6:129,437,423...129,441,553
Ensembl chr 6:129,438,158...129,440,574
JBrowse link
G Bdkrb2 bradykinin receptor B2 ISO ClinVar Annotator: match by term: Essential thrombocythemia ClinVar NCBI chr 6:129,399,468...129,429,676
Ensembl chr 6:129,399,468...129,429,676
JBrowse link
G Calr calreticulin severity ISO DNA:mutations:multiple (human)
ClinVar Annotator: match by OMIM:187950
OMIM
ClinVar
PMID:24325356 PMID:24325359, PMID:24496303, PMID:25860380 RGD:11352751, RGD:11352747 NCBI chr19:25,956,771...25,961,666
Ensembl chr19:25,956,771...25,961,666
JBrowse link
G Cd36 CD36 molecule ISO protein:increased expression:platelet, cell surface RGD PMID:8555064 RGD:11041099 NCBI chr 4:14,150,309...14,191,498
Ensembl chr 4:14,001,761...14,249,749
JBrowse link
G Cd40lg CD40 ligand ISO protein:increased expression:serum (human) RGD PMID:22196954 RGD:11344979 NCBI chr  X:159,703,703...159,714,886
Ensembl chr  X:159,703,578...159,716,562
JBrowse link
G Cux2 cut-like homeobox 2 ISO ClinVar Annotator: match by term: Thrombocythemia 1 ClinVar PMID:20404132 NCBI chr12:40,016,774...40,221,067
Ensembl chr12:40,018,937...40,219,291
JBrowse link
G Elane elastase, neutrophil expressed ISO protein:increased expression:plasma: RGD PMID:18768782 RGD:10450556 NCBI chr 7:12,638,320...12,640,168
Ensembl chr 7:12,638,322...12,640,232
JBrowse link
G Fgf2 fibroblast growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15682418 NCBI chr 2:124,081,072...124,134,133
Ensembl chr 2:124,081,072...124,134,681
JBrowse link
G Gskip GSK3B interacting protein ISO ClinVar Annotator: match by term: Essential thrombocythemia ClinVar NCBI chr 6:129,512,950...129,536,320
Ensembl chr 6:129,519,709...129,536,221
JBrowse link
G Jak2 Janus kinase 2 severity ISO DNA:mutation: :p.V617F (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:15781101 PMID:15858187 PMID:16484586 PMID:16896569 PMID:19154659 PMID:19636672 PMID:20434300 PMID:21942426, PMID:23130336 RGD:10449178 NCBI chr 1:247,398,667...247,457,521
Ensembl chr 1:247,398,598...247,458,509
JBrowse link
G LOC100909954 uncharacterized LOC100909954 ISO ClinVar Annotator: match by term: Essential thrombocythemia ClinVar NCBI chr 6:129,259,581...129,322,113 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
ClinVar Annotator: match by term: THROMBOCYTOSIS 1
mRNA, protein:decreased expression:blood, platelet (human)
ClinVar
MouseDO
PMID:14764528 PMID:15269348 PMID:15531462 PMID:17054430 PMID:18451306 PMID:18528423 PMID:19483125 PMID:19608689 PMID:20151976 PMID:23970983 PMID:24728327 PMID:25741868 PMID:28492532 PMID:28697167, PMID:14764528, PMID:11122159 RGD:10449014, RGD:10449016 NCBI chr 5:137,268,412...137,282,032
Ensembl chr 5:137,269,480...137,281,298
JBrowse link
G Myb MYB proto-oncogene, transcription factor ISS OMIM:187950 | OMIM:300331 | OMIM:601977 | OMIM:614521 MouseDO NCBI chr 1:16,658,178...16,690,135
Ensembl chr 1:16,659,442...16,687,817
JBrowse link
G Pdgfa platelet derived growth factor subunit A ISO CTD Direct Evidence: marker/mechanism CTD PMID:15682418 NCBI chr12:17,734,141...17,756,186
Ensembl chr12:17,734,133...17,755,285
JBrowse link
G Pdgfb platelet derived growth factor subunit B ISO CTD Direct Evidence: marker/mechanism CTD PMID:15682418 NCBI chr 7:121,215,458...121,233,092
Ensembl chr 7:121,214,628...121,232,741
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 PMID:29590070 NCBI chr12:40,261,990...40,265,757
Ensembl chr12:40,244,081...40,265,757
JBrowse link
G Tcl1a Tcl1 family Akt coactivator A ISO ClinVar Annotator: match by term: Essential thrombocythemia ClinVar NCBI chr 6:128,888,768...128,894,761
Ensembl chr 6:128,888,768...128,894,761
JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15682418 NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
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
PMID:7772529 PMID:9425899 PMID:9694695 PMID:10583217 PMID:19553636 PMID:25741868 PMID:28492532, PMID:9425899 RGD:1580083 NCBI chr11:82,845,676...82,853,439
Ensembl chr11:83,868,655...83,873,910
Ensembl chr11:83,868,655...83,873,910
JBrowse link
G Vcam1 vascular cell adhesion molecule 1 ISO protein:increased expression:serum: RGD PMID:24434346 RGD:11354980 NCBI chr 2:219,071,193...219,090,931
Ensembl chr 2:219,071,193...219,097,619
JBrowse link
G Vwf von Willebrand factor ISO RGD PMID:25876231 RGD:11073823 NCBI chr 4:158,085,059...158,219,525
Ensembl chr 4:158,088,505...158,219,523
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:25414442 PMID:28492532 PMID:30533531 NCBI chr 9:50,664,048...50,744,803
NCBI chr 9:50,578,868...50,628,943
Ensembl chr 9:50,581,234...50,744,803
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 Runx1 RUNX family transcription factor 1 ISO ClinVar Annotator: match by term: Platelet disorder, Aspirin-like
ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
ClinVar Annotator: match by term: Familial platelet disorder with associated myeloid malignancy
OMIM
ClinVar
PMID:10068652 PMID:10508512 PMID:11830488 PMID:12060124 PMID:12172547 PMID:12200707 PMID:12393679 PMID:12807882 PMID:14504086 PMID:15156185 PMID:15749889 PMID:17234761 PMID:17290219 PMID:17485549 PMID:17650443 PMID:18478040 PMID:18723428 PMID:19357396 PMID:19387465 PMID:20549580 PMID:20846103 PMID:20880108 PMID:20955399 PMID:22012064 PMID:22318203 PMID:22689681 PMID:23751892 PMID:23753029 PMID:23817177 PMID:23848403 PMID:24100448 PMID:24523240 PMID:24659740 PMID:24764152 PMID:24904105 PMID:25159113 PMID:25741868 PMID:25840971 PMID:26175287 PMID:26316320 PMID:26580448 PMID:26884589 PMID:27112265 PMID:27137476 PMID:27210295 PMID:27418648 PMID:27479822 PMID:28179279 PMID:28240786 PMID:28492532 PMID:28513614 PMID:28659335 PMID:28748566 PMID:28855357 PMID:28933735 PMID:28960434 PMID:29146883 PMID:29365323 PMID:29666006 PMID:30990344 PMID:31064749 PMID:32581362 NCBI chr11:32,765,147...33,003,061
Ensembl chr11:32,769,165...33,003,021
JBrowse link
Giant Platelet Syndrome with Thrombocytopenia 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: Giant platelet syndrome with thrombocytopenia ClinVar PMID:10739770 PMID:10973259 PMID:10973260 PMID:11590545 PMID:25741868 PMID:29090586 NCBI chr 7:118,740,005...118,792,507
Ensembl chr 7:118,741,110...118,792,625
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 2:46,996,904...47,097,011
Ensembl chr 2:47,000,323...47,096,961
JBrowse link
G Itga2b integrin subunit alpha 2b ISO ClinVar Annotator: match by term: Glanzmann thrombasthenia
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
PMID:1317725 PMID:1638023 PMID:1702098 PMID:1926040 PMID:2014236 PMID:7508443 PMID:7620188 PMID:7706461 PMID:8282784 PMID:8704171 PMID:8883261 PMID:9215749 PMID:9473221 PMID:9722314 PMID:9734640 PMID:9763559 PMID:9834222 PMID:9920835 PMID:10607701 PMID:11091187 PMID:11798398 PMID:12008952 PMID:12083483 PMID:12181054 PMID:12424194 PMID:12487785 PMID:15099289 PMID:15748238 PMID:16463284 PMID:16722529 PMID:16879215 PMID:17488698 PMID:18422845 PMID:18791937 PMID:19170775 PMID:19172520 PMID:19339519 PMID:19691478 PMID:20020534 PMID:20492470 PMID:21113249 PMID:21454453 PMID:21487445 PMID:21557682 PMID:21917754 PMID:22102273 PMID:22190468 PMID:22250950 PMID:22394243 PMID:22513797 PMID:22738334 PMID:23305224 PMID:24418945 PMID:25373348 PMID:25539746 PMID:25728920 PMID:25741868 PMID:25827233 PMID:27607598 PMID:27696190 PMID:28232155 PMID:28492532 PMID:28888044 PMID:28983057 PMID:29090484 PMID:29675921 PMID:29884513 PMID:30792900 PMID:31064749 PMID:31119735 PMID:32139434 PMID:32237906 PMID:32581362, PMID:8111043, PMID:7529063 RGD:10755480, RGD:10755476 NCBI chr10:90,397,960...90,416,550
Ensembl chr10:90,398,132...90,415,070
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
OMIM
PMID:1371279 PMID:1430225 PMID:1438206 PMID:1602006 PMID:2014236 PMID:2392682 PMID:2428841 PMID:7570918 PMID:7694683 PMID:8132570 PMID:8457479 PMID:8471765 PMID:8598867 PMID:8667943 PMID:8838346 PMID:9160670 PMID:9215749 PMID:9351872 PMID:9376589 PMID:9700201 PMID:9787162 PMID:9845537 PMID:10233432 PMID:10583927 PMID:10727448 PMID:11723016 PMID:12083483 PMID:12152649 PMID:12353082 PMID:14516468 PMID:14629479 PMID:14690453 PMID:15583747 PMID:15701721 PMID:16463284 PMID:16722529 PMID:17264806 PMID:19570064 PMID:19691478 PMID:19821948 PMID:20020534 PMID:20804530 PMID:21113249 PMID:21287507 PMID:21658138 PMID:22190468 PMID:22250950 PMID:22490273 PMID:22862885 PMID:24236036 PMID:24617330 PMID:24685245 PMID:25373348 PMID:25539746 PMID:25728920 PMID:25741868 PMID:25827233 PMID:27469266 PMID:28492532 PMID:28748566 PMID:30138987 PMID:30792900 PMID:30828542 PMID:31064749 PMID:31088191 PMID:31565851 PMID:32139434 PMID:32237906 PMID:32581362, PMID:1967954 RGD:10755474 NCBI chr10:92,667,869...92,783,413
Ensembl chr10:92,667,869...92,783,410
JBrowse link
G Tbx5 T-box transcription factor 5 ISO ClinVar Annotator: match by term: BLEEDING DISORDER, PLATELET-TYPE, 2 ClinVar PMID:25326637 PMID:25741868 PMID:28492532 NCBI chr12:42,059,688...42,148,226
Ensembl chr12:42,097,626...42,148,146
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 8:118,925,682...118,977,038
Ensembl chr 8:118,926,478...118,977,051
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 3:7,190,721...7,203,444
Ensembl chr 3:7,190,722...7,203,420
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 PMID:31064749 PMID:32581362 PMID:32693407 NCBI chr 8:118,893,987...118,924,390
Ensembl chr 8:118,893,995...118,926,613
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 chr14:19,176,275...19,191,793
Ensembl chr14:19,176,277...19,191,863
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 IEP protein:increased expression:plasma (rat) RGD PMID:10201001 RGD:11528527 NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
JBrowse link
G Ccl3 C-C motif chemokine ligand 3 ISO RGD PMID:17220320 RGD:7241820 NCBI chr10:70,869,516...70,871,066
Ensembl chr10:70,869,513...70,871,066
JBrowse link
G Cd36 CD36 molecule ISO RGD PMID:16197457 RGD:6893534 NCBI chr 4:14,150,309...14,191,498
Ensembl chr 4:14,001,761...14,249,749
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 chr13:113,786,525...113,818,741
Ensembl chr13:113,787,349...113,817,995
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 PMID:14583443 RGD:11041164 NCBI chr13:56,979,155...57,080,540
Ensembl chr13:56,978,607...57,080,622
JBrowse link
G Dgke diacylglycerol kinase epsilon ISO ClinVar Annotator: match by term: Hemolytic-uremic syndrome ClinVar PMID:25854283 NCBI chr10:76,375,981...76,408,224
Ensembl chr10:76,386,471...76,407,989
JBrowse link
G Epo erythropoietin ISO CTD Direct Evidence: therapeutic CTD PMID:12053072 NCBI chr12:22,274,828...22,278,268
Ensembl chr12:22,274,828...22,278,266
JBrowse link
G F2 coagulation factor II ISO associated with diarrhea;protein:increased expression:plasma (human) RGD PMID:9423793 RGD:40818428 NCBI chr 3:80,529,468...80,542,993
Ensembl chr 3:80,529,428...80,543,031
JBrowse link
G Fos Fos proto-oncogene, AP-1 transcription factor subunit ISO RGD PMID:15632024 RGD:7242276 NCBI chr 6:109,300,433...109,303,299
Ensembl chr 6:109,300,433...109,303,299
JBrowse link
G Hp haptoglobin ISO RGD PMID:6218601 RGD:1626361 NCBI chr19:42,096,255...42,100,805
Ensembl chr19:42,097,995...42,100,804
JBrowse link
G Il1a interleukin 1 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:15384034 NCBI chr 3:121,824,712...121,836,122
Ensembl chr 3:121,825,412...121,836,086
JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:15384034 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
JBrowse link
G Il1rl1 interleukin 1 receptor-like 1 severity ISO associated with Escherichia Coli Infections; RGD PMID:30467800 RGD:39458200 NCBI chr 9:47,133,483...47,184,316
Ensembl chr 9:47,134,034...47,182,170
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 3:1,449,778...1,468,624
Ensembl chr 3:1,452,644...1,468,614
JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15384034 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G Mbl2 mannose binding lectin 2 treatment ISO RGD PMID:27378476 RGD:11530050 NCBI chr 1:248,435,069...248,442,669
Ensembl chr 1:248,723,397...248,729,962
JBrowse link
G Nqo1 NAD(P)H quinone dehydrogenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12588957 NCBI chr19:38,422,210...38,437,103
Ensembl chr19:38,422,164...38,437,180
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 9:19,935,754...19,978,013
Ensembl chr 9:19,935,768...19,978,013
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 chr16:74,098,263...74,122,897
Ensembl chr16:74,098,260...74,122,889
JBrowse link
G Thbd thrombomodulin ISO RGD PMID:22942429 RGD:11038690 NCBI chr 3:142,748,673...142,752,325
Ensembl chr 3:142,748,674...142,752,325
JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:15384034 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
Heparin-induced Thrombocytopenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fcgr2a Fc fragment of IgG receptor IIa ISO RGD PMID:8772238 RGD:11040889 NCBI chr13:91,146,878...91,163,691
Ensembl chr13:91,168,973...91,198,036
Ensembl chr13:91,168,973...91,198,036
JBrowse link
G Fcgr3a Fc fragment of IgG receptor IIIa susceptibility ISO DNA:SNP:cds:p.V158F(human) RGD PMID:15191947 RGD:11040991 NCBI chr13:89,385,775...89,396,047
Ensembl chr13:89,385,859...89,396,051
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 chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
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 PMID:24033266 PMID:25741868 PMID:28492532, PMID:12125811, PMID:11056055, PMID:11861280 RGD:1578409, RGD:11087577, RGD:11087576 NCBI chr 2:24,022,815...24,227,522
Ensembl chr 2:24,024,791...24,226,224
JBrowse link
G Ap3d1 adaptor related protein complex 3 subunit delta 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:11,838,639...11,873,992
Ensembl chr 7:11,838,639...11,873,984
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 1:80,414,766...80,417,385
Ensembl chr 1:80,415,686...80,416,273
JBrowse link
G Bloc1s4 biogenesis of lysosomal organelles complex 1 subunit 4 ISS MouseDO NCBI chr14:79,013,808...79,015,108
Ensembl chr14:79,013,807...79,015,112
JBrowse link
G Bloc1s5 biogenesis of lysosomal organelles complex 1 subunit 5 ISS
ISO
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome MouseDO
ClinVar
NCBI chr17:26,808,193...26,833,257
Ensembl chr17:26,808,330...26,833,247
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 3:114,869,478...114,880,218
Ensembl chr 3:114,869,459...114,881,590
JBrowse link
G Ccl5 C-C motif chemokine ligand 5 ISO protein:increased secretion:lung, alveolar macrophage (human) RGD PMID:19729668 RGD:4891476 NCBI chr10:70,739,764...70,744,303
Ensembl chr10:70,739,800...70,744,315
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 2:104,744,249...104,803,034
Ensembl chr 2:104,744,461...104,799,853
JBrowse link
G Cxcr4 C-X-C motif chemokine receptor 4 disease_progression ISO RGD PMID:25347450 RGD:11352293 NCBI chr13:45,314,952...45,318,856
Ensembl chr13:45,314,933...45,318,878
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
PMID:24033266, PMID:12923531 RGD:11251756 NCBI chr17:20,090,136...20,182,332
Ensembl chr17:20,090,246...20,182,206
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 PMID:9705234 PMID:12442288 PMID:14510955 PMID:15952982 PMID:16185271 PMID:17365864 PMID:19334085 PMID:19665357 PMID:20514622 PMID:20662851 PMID:24033266 PMID:25741868 PMID:26575419 PMID:26806224 PMID:27593200 PMID:28081892 PMID:28492532 PMID:29941477 PMID:30387913 PMID:31064749 PMID:32581362 NCBI chr 1:261,989,178...262,015,282
Ensembl chr 1:261,989,178...262,015,153
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
PMID:11590544 PMID:18414213 PMID:24033266 PMID:25525159 PMID:25741868 PMID:26575419 PMID:27593200 PMID:28492532 PMID:31064749, PMID:11455388 RGD:1599538 NCBI chr 2:104,789,423...104,832,964
Ensembl chr 2:104,789,423...104,830,898
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
PMID:24033266 PMID:25741868 PMID:26575419 PMID:28492532, PMID:12664304, PMID:11836498, PMID:23563589 RGD:1599546, RGD:11354897, RGD:11353873 NCBI chr12:50,285,239...50,315,893
Ensembl chr12:50,285,278...50,314,406
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
PMID:21833017 PMID:23607980 PMID:24698632 PMID:25741868 PMID:28640947 PMID:31064749, PMID:15296495 RGD:11072072 NCBI chr 1:102,810,114...102,849,430
Ensembl chr 1:102,776,082...102,849,430
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
PMID:12548288 PMID:17041891 PMID:19843503 PMID:24033266 PMID:25741868 PMID:26575419 PMID:31064749, PMID:12548288, PMID:19843503 RGD:632833, RGD:11073544 NCBI chr 1:265,761,818...265,764,427
Ensembl chr 1:265,761,738...265,764,437
JBrowse link
G Kxd1 KxDL motif containing 1 ISS MouseDO NCBI chr16:20,652,863...20,666,581
Ensembl chr16:20,657,099...20,666,579
JBrowse link
G Rab38 RAB38, member RAS oncogene family IAGP RGD PMID:19897744 RGD:2324690 NCBI chr 1:152,072,716...152,153,449
Ensembl chr 1:152,072,665...152,153,449
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 chr15:34,393,419...34,400,466
Ensembl chr15:34,393,233...34,400,449
JBrowse link
G Slc7a11 solute carrier family 7 member 11 ISS MouseDO NCBI chr 2:139,453,774...139,528,479
Ensembl chr 2:139,453,774...139,528,162
JBrowse link
G Vps33a VPS33A core subunit of CORVET and HOPS complexes ISS MouseDO NCBI chr12:38,459,816...38,482,903
Ensembl chr12:38,459,832...38,484,512
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 7:11,838,639...11,873,992
Ensembl chr 7:11,838,639...11,873,984
JBrowse link
G Dtnbp1 dystrobrevin binding protein 1 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 1 ClinVar PMID:23364359 NCBI chr17:20,090,136...20,182,332
Ensembl chr17:20,090,246...20,182,206
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
PMID:8274781 PMID:8896559 PMID:9345105 PMID:9497254 PMID:9562579 PMID:9705234 PMID:10971344 PMID:12442288 PMID:14510955 PMID:15952982 PMID:16185271 PMID:17365864 PMID:18326704 PMID:19334085 PMID:20514622 PMID:20662851 PMID:21458243 PMID:24033266 PMID:25741868 PMID:26806224 PMID:27593200 PMID:28081892 PMID:28492532 PMID:29941477 PMID:31064749 PMID:32581362, PMID:8896559 RGD:1625056 NCBI chr 1:261,989,178...262,015,282
Ensembl chr 1:261,989,178...262,015,153
JBrowse link
G Rab27a RAB27A, member RAS oncogene family ISS OMIM:203300 MouseDO NCBI chr 8:79,722,334...79,776,228
Ensembl chr 8:79,722,334...79,776,221
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 7:11,838,639...11,873,992
Ensembl chr 7:11,838,639...11,873,984
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 OMIM NCBI chr17:26,808,193...26,833,257
Ensembl chr17:26,808,330...26,833,247
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:10024875 PMID:11809908 PMID:14566336 PMID:16537806 PMID:16551969 PMID:24033266 PMID:25741868 PMID:25980904 PMID:28492532 NCBI chr 2:24,022,815...24,227,522
Ensembl chr 2:24,024,791...24,226,224
JBrowse link
G Ap3d1 adaptor related protein complex 3 subunit delta 1 ISS OMIM:608233 MouseDO NCBI chr 7:11,838,639...11,873,992
Ensembl chr 7:11,838,639...11,873,984
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:28492532 PMID:32581362 NCBI chr 2:104,789,423...104,832,964
Ensembl chr 2:104,789,423...104,830,898
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:24033266 PMID:25741868 PMID:28492532 NCBI chr 2:104,744,249...104,803,034
Ensembl chr 2:104,744,461...104,799,853
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
PMID:11455388 PMID:11590544 PMID:18414213 PMID:24033266 PMID:25525159 PMID:25741868 PMID:27593200 PMID:28492532, PMID:11590544 RGD:11041885 NCBI chr 2:104,789,423...104,832,964
Ensembl chr 2:104,789,423...104,830,898
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 PMID:25741868 PMID:28492532 NCBI chr12:50,285,239...50,315,893
Ensembl chr12:50,285,278...50,314,406
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 PMID:24033266 PMID:24698632 PMID:25741868 PMID:28296950 PMID:28492532 PMID:28640947 PMID:31064749 NCBI chr 1:102,810,114...102,849,430
Ensembl chr 1:102,776,082...102,849,430
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 PMID:25741868 PMID:25949529 PMID:27225848 PMID:28492532 PMID:31064749 PMID:32581362 NCBI chr 1:265,761,818...265,764,427
Ensembl chr 1:265,761,738...265,764,437
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 chr17:20,090,136...20,182,332
Ensembl chr17:20,090,246...20,182,206
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:29345414 NCBI chr 1:80,414,766...80,417,385
Ensembl chr 1:80,415,686...80,416,273
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:21665000 PMID:22461475 PMID:25741868 PMID:26575419 PMID:28492532 NCBI chr 3:114,869,478...114,880,218
Ensembl chr 3:114,869,459...114,881,590
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: IMMUNODEFICIENCY 71 WITH INFLAMMATORY DISEASE AND CONGENITAL THROMBOCYTOPENIA
ClinVar
OMIM
PMID:25741868 PMID:28368018 PMID:29127144 PMID:30254128 PMID:32499645 NCBI chr12:11,252,300...11,265,849
Ensembl chr12:11,252,296...11,265,865
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
ClinVar Annotator: match by OMIM:147750
OMIM
ClinVar
PMID:17256792 PMID:25741868 NCBI chr 3:165,520,155...165,538,176
Ensembl chr 3:165,520,392...165,537,940
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 8:28,023,401...28,044,967
Ensembl chr 8:28,024,123...28,044,876
JBrowse link
G Acrv1 acrosomal vesicle protein 1 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:39,164,991...39,170,568
Ensembl chr 8:39,164,916...39,170,736
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 8:31,977,001...32,000,378
Ensembl chr 8:31,977,001...32,000,378
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 8:32,017,684...32,037,529
Ensembl chr 8:32,018,560...32,037,531
JBrowse link
G Aplp2 amyloid beta precursor like protein 2 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:32,298,526...32,328,821
Ensembl chr 8:32,298,532...32,328,839
JBrowse link
G Arhgap32 Rho GTPase activating protein 32 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:33,131,874...33,392,198
Ensembl chr 8:33,239,139...33,392,305
JBrowse link
G B3gat1 beta-1,3-glucuronyltransferase 1 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:27,777,024...27,804,368
Ensembl chr 8:27,777,179...27,804,515
JBrowse link
G Barx2 BARX homeobox 2 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:32,950,878...33,018,245
Ensembl chr 8:32,950,875...33,017,854
JBrowse link
G Ccdc15 coiled-coil domain containing 15 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:39,759,077...39,830,235
Ensembl chr 8:39,762,035...39,830,306
JBrowse link
G Cdon cell adhesion associated, oncogene regulated ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:36,625,757...36,712,091
Ensembl chr 8:36,625,733...36,710,949
JBrowse link
G Chek1 checkpoint kinase 1 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:39,181,162...39,201,588
Ensembl chr 8:39,181,163...39,243,882
JBrowse link
G Dcps decapping enzyme, scavenger ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:36,321,992...36,374,665
Ensembl chr 8:36,321,993...36,374,673
JBrowse link
G Ddx25 DEAD-box helicase 25 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:36,744,686...36,760,720
Ensembl chr 8:36,744,667...36,760,742
JBrowse link
G Ei24 EI24, autophagy associated transmembrane protein ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:39,254,883...39,271,238
Ensembl chr 8:39,254,889...39,266,959
JBrowse link
G Esam endothelial cell adhesion molecule ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:39,997,875...40,008,802
Ensembl chr 8:39,997,875...40,008,809
JBrowse link
G Ets1 ETS proto-oncogene 1, transcription factor ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:33,756,634...33,879,625
Ensembl chr 8:33,816,386...33,879,625
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 8:36,416,769...36,467,609
Ensembl chr 8:36,416,997...36,467,627
JBrowse link
G Fez1 fasciculation and elongation protein zeta 1 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:39,305,128...39,350,270
Ensembl chr 8:39,305,128...39,350,270
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 8:33,541,932...33,661,111
Ensembl chr 8:33,543,258...33,661,049
JBrowse link
G Foxred1 FAD-dependent oxidoreductase domain containing 1 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:36,401,317...36,410,589
Ensembl chr 8:36,403,493...36,410,612
JBrowse link
G Glb1l2 galactosidase, beta 1-like 2 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:27,805,139...27,853,080
Ensembl chr 8:27,807,301...27,852,996
JBrowse link
G Glb1l3 galactosidase, beta 1-like 3 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:27,865,452...27,907,726
Ensembl chr 8:27,865,350...27,907,911
JBrowse link
G Hepacam hepatic and glial cell adhesion molecule ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:39,848,264...39,866,969
Ensembl chr 8:39,848,448...39,865,130
JBrowse link
G Hyls1 HYLS1, centriolar and ciliogenesis associated ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:36,763,470...36,772,199
Ensembl chr 8:36,763,481...36,764,422
JBrowse link
G Igsf9b immunoglobulin superfamily, member 9B ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:28,352,497...28,398,659
Ensembl chr 8:28,352,772...28,387,383
JBrowse link
G Jam3 junctional adhesion molecule 3 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:28,147,110...28,208,466
Ensembl chr 8:28,147,111...28,208,466
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 8:33,490,280...33,519,127
Ensembl chr 8:33,514,042...33,518,165
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 8:33,435,493...33,463,410
Ensembl chr 8:33,433,905...33,463,467
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 8:35,692,525...36,254,755
Ensembl chr 8:36,125,999...36,254,753
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 8:39,959,162...39,994,279
Ensembl chr 8:39,960,542...39,993,630
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 8:28,075,629...28,145,024
Ensembl chr 8:28,075,551...28,144,741
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 8:32,530,412...32,561,955
Ensembl chr 8:32,530,412...32,561,955
JBrowse link
G Nrgn neurogranin ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:40,015,049...40,023,193
Ensembl chr 8:40,015,049...40,023,193
JBrowse link
G Ntm neurotrimin ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:30,039,332...31,041,755
Ensembl chr 8:30,039,408...30,222,036
JBrowse link
G Olr1194 olfactory receptor 1194 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:40,191,902...40,192,831
Ensembl chr 8:40,191,902...40,192,831
JBrowse link
G Olr1196 olfactory receptor 1196 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:40,258,985...40,259,917
Ensembl chr 8:40,258,985...40,259,917
JBrowse link
G Olr1201 olfactory receptor 1201 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:40,383,997...40,384,929
Ensembl chr 8:40,383,918...40,384,966
JBrowse link
G Olr1202 olfactory receptor 1202 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:40,410,700...40,414,063
Ensembl chr 8:40,410,604...40,411,648
JBrowse link
G Olr1235 olfactory receptor 1235 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 4:1,470,716...1,471,657
Ensembl chr 4:1,470,716...1,471,657
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 8:28,842,202...29,967,300
Ensembl chr 8:29,453,643...29,962,825
JBrowse link
G Panx3 pannexin 3 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:40,126,379...40,137,390
Ensembl chr 8:40,126,342...40,137,390
JBrowse link
G Pate1 prostate and testis expressed 1 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:36,874,700...36,876,931
Ensembl chr 8:36,874,700...36,876,931
JBrowse link
G Pate2 prostate and testis expressed 2 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:36,772,362...36,879,228
Ensembl chr 8:36,850,324...36,851,609
JBrowse link
G Pate3 prostate and testis expressed 3 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:36,840,359...36,842,370
Ensembl chr 8:36,840,359...36,842,370
JBrowse link
G Pate4 prostate and testis expressed 4 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:36,815,007...36,817,747
Ensembl chr 8:36,815,007...36,817,747
JBrowse link
G Pknox2 PBX/knotted 1 homeobox 2 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:39,361,698...39,551,700
Ensembl chr 8:39,361,218...39,551,700
JBrowse link
G Prdm10 PR/SET domain 10 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:32,419,921...32,526,357
Ensembl chr 8:32,452,885...32,526,351
JBrowse link
G Pus3 pseudouridine synthase 3 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:36,760,874...36,769,167
Ensembl chr 8:36,766,977...36,769,162
JBrowse link
G Robo3 roundabout guidance receptor 3 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:39,892,792...39,923,735
Ensembl chr 8:39,892,792...39,907,478
JBrowse link
G Robo4 roundabout guidance receptor 4 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:39,082,693...39,093,344
Ensembl chr 8:39,083,327...39,093,277
JBrowse link
G Rpusd4 RNA pseudouridine synthase D4 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:36,467,706...36,477,190
Ensembl chr 8:36,467,706...36,477,189
JBrowse link
G Siae sialic acid acetylesterase ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:40,078,269...40,113,514
Ensembl chr 8:40,078,269...40,113,514
JBrowse link
G Slc37a2 solute carrier family 37 member 2 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:39,708,678...39,735,042
Ensembl chr 8:39,708,638...39,734,594
JBrowse link
G Snx19 sorting nexin 19 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:31,497,034...31,534,077
Ensembl chr 8:31,497,639...31,534,077
JBrowse link
G Spa17 sperm autoantigenic protein 17 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:40,066,954...40,078,131
Ensembl chr 8:40,067,076...40,078,165
JBrowse link
G Spata19 spermatogenesis associated 19 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:28,454,938...28,460,645
Ensembl chr 8:28,454,962...28,459,835
JBrowse link
G Srpra SRP receptor subunit alpha ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:36,410,683...36,416,766
Ensembl chr 8:36,410,683...36,416,296
JBrowse link
G St14 ST14 transmembrane serine protease matriptase ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:32,240,113...32,280,813
Ensembl chr 8:32,240,133...32,280,869
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 8:36,264,741...36,314,811
Ensembl chr 8:36,264,750...36,314,811
JBrowse link
G Stt3a STT3 oligosaccharyltransferase complex catalytic subunit A ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:39,204,218...39,243,751
Ensembl chr 8:39,181,163...39,243,882
JBrowse link
G Tbrg1 transforming growth factor beta regulator 1 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:40,114,792...40,122,450
Ensembl chr 8:40,114,792...40,122,450
JBrowse link
G Thyn1 thymocyte nuclear protein 1 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:28,045,093...28,053,974
Ensembl chr 8:28,045,093...28,054,040
JBrowse link
G Tirap TIR domain containing adaptor protein ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:36,382,029...36,399,625
Ensembl chr 8:36,385,353...36,388,224
JBrowse link
G Tmem218 transmembrane protein 218 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:39,687,280...39,702,722
Ensembl chr 8:39,687,269...39,702,902
JBrowse link
G Tmem45b transmembrane protein 45b ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:32,563,872...32,609,212
Ensembl chr 8:32,563,874...32,609,212
JBrowse link
G Vps26b VPS26 retromer complex component B ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:28,054,407...28,075,514
Ensembl chr 8:28,054,407...28,075,514
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 8:40,009,691...40,014,734
Ensembl chr 8:40,009,691...40,014,734
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 8:32,165,388...32,223,341
Ensembl chr 8:32,165,810...32,217,476
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 2:124,081,072...124,134,133
Ensembl chr 2:124,081,072...124,134,681
JBrowse link
G Gna14 G protein subunit alpha 14 ISO ClinVar Annotator: match by term: Kaposiform hemangioendothelioma ClinVar PMID:27476652 NCBI chr 1:235,165,775...235,347,986
Ensembl chr 1:235,166,718...235,347,937
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: Epstein syndrome
ClinVar Annotator: match by term: Sebastian syndrome
ClinVar Annotator: match by term: May-Hegglin anomaly
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
PMID:1449176 PMID:5011389 PMID:8280620 PMID:9390828 PMID:10603121 PMID:10739770 PMID:10973259 PMID:10973260 PMID:11023810 PMID:11093280 PMID:11159552 PMID:11590545 PMID:11752022 PMID:11935325 PMID:12533692 PMID:12621333 PMID:12649151 PMID:12792306 PMID:15613099 PMID:15667538 PMID:16969870 PMID:17146397 PMID:18059020 PMID:18676005 PMID:19450438 PMID:19557653 PMID:20588287 PMID:22123909 PMID:22477015 PMID:22995991 PMID:23144074 PMID:23349334 PMID:23409987 PMID:23804846 PMID:24033266 PMID:24130771 PMID:24186861 PMID:24643058 PMID:24875298 PMID:24890873 PMID:25077172 PMID:25505834 PMID:25741868 PMID:25752595 PMID:25949529 PMID:26226608 PMID:26346198 PMID:26467025 PMID:26969326 PMID:27068579 PMID:27610647 PMID:28059092 PMID:28492532 PMID:29090586 PMID:30720677 PMID:31064749, PMID:11935325, PMID:23976996, PMID:16806139, PMID:11752022 RGD:6902926, RGD:11533924, RGD:11532766, RGD:6903235 NCBI chr 7:118,740,005...118,792,507
Ensembl chr 7:118,741,110...118,792,625
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 2:46,996,904...47,097,011
Ensembl chr 2:47,000,323...47,096,961
JBrowse link
G Itga2b integrin subunit alpha 2b ISO ClinVar Annotator: match by term: BAK PLATELET-SPECIFIC ANTIGEN ClinVar PMID:1926040 PMID:25741868 NCBI chr10:90,397,960...90,416,550
Ensembl chr10:90,398,132...90,415,070
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 PMID:14516468 PMID:21658138 PMID:25827233 PMID:28370162 PMID:28492532 NCBI chr10:92,667,869...92,783,413
Ensembl chr10:92,667,869...92,783,410
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 chr13:67,062,252...67,206,688
Ensembl chr13:66,988,937...67,206,693
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 2:24,022,815...24,227,522
Ensembl chr 2:24,024,791...24,226,224
JBrowse link
G Ap3d1 adaptor related protein complex 3 subunit delta 1 ISS OMIM:185050 MouseDO NCBI chr 7:11,838,639...11,873,992
Ensembl chr 7:11,838,639...11,873,984
JBrowse link
G Bloc1s5 biogenesis of lysosomal organelles complex 1 subunit 5 ISS OMIM:185050 MouseDO NCBI chr17:26,808,193...26,833,257
Ensembl chr17:26,808,330...26,833,247
JBrowse link
G Bloc1s6 biogenesis of lysosomal organelles complex 1 subunit 6 ISS OMIM:185050 MouseDO NCBI chr 3:114,869,478...114,880,218
Ensembl chr 3:114,869,459...114,881,590
JBrowse link
G Dock7 dedicator of cytokinesis 7 ISS OMIM:185050 MouseDO NCBI chr 5:117,595,194...117,780,844
Ensembl chr 5:117,596,136...117,780,777
JBrowse link
G Dtnbp1 dystrobrevin binding protein 1 ISS OMIM:185050 MouseDO NCBI chr17:20,090,136...20,182,332
Ensembl chr17:20,090,246...20,182,206
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 3:7,190,721...7,203,444
Ensembl chr 3:7,190,722...7,203,420
JBrowse link
G Hps1 HPS1, biogenesis of lysosomal organelles complex 3 subunit 1 ISS OMIM:185050 MouseDO NCBI chr 1:261,989,178...262,015,282
Ensembl chr 1:261,989,178...262,015,153
JBrowse link
G Hps3 HPS3, biogenesis of lysosomal organelles complex 2 subunit 1 ISS OMIM:185050 MouseDO NCBI chr 2:104,789,423...104,832,964
Ensembl chr 2:104,789,423...104,830,898
JBrowse link
G Hps4 HPS4, biogenesis of lysosomal organelles complex 3 subunit 2 ISS OMIM:185050 MouseDO NCBI chr12:50,285,239...50,315,893
Ensembl chr12:50,285,278...50,314,406
JBrowse link
G Hps5 HPS5, biogenesis of lysosomal organelles complex 2 subunit 2 ISS OMIM:185050 MouseDO NCBI chr 1:102,810,114...102,849,430
Ensembl chr 1:102,776,082...102,849,430
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 1:265,761,818...265,764,427
Ensembl chr 1:265,761,738...265,764,437
JBrowse link
G Lyst lysosomal trafficking regulator ISS OMIM:185050 MouseDO NCBI chr17:90,323,055...90,522,091 JBrowse link
G Rab27a RAB27A, member RAS oncogene family ISS OMIM:185050 MouseDO NCBI chr 8:79,722,334...79,776,228
Ensembl chr 8:79,722,334...79,776,221
JBrowse link
G Rab27b RAB27B, member RAS oncogene family ISS OMIM:185050 MouseDO NCBI chr18:68,486,006...68,644,595
Ensembl chr18:68,488,942...68,551,558
JBrowse link
G Rab38 RAB38, member RAS oncogene family IAGP RGD PMID:9250486 RGD:1302447 NCBI chr 1:152,072,716...152,153,449
Ensembl chr 1:152,072,665...152,153,449
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 chr11:32,765,147...33,003,061
Ensembl chr11:32,769,165...33,003,021
JBrowse link
G Slc7a11 solute carrier family 7 member 11 ISS OMIM:185050 MouseDO NCBI chr 2:139,453,774...139,528,479
Ensembl chr 2:139,453,774...139,528,162
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 PMID:11019968 PMID:11352982 PMID:11499670 PMID:11718687 PMID:11950861 PMID:12031598 PMID:15282206 PMID:15671915 PMID:16493488 PMID:18305138 PMID:19403559 PMID:20722468 PMID:22993001 PMID:23649248 PMID:23856131 PMID:23966019 PMID:24033266 PMID:24917573 PMID:24960640 PMID:25330908 PMID:25741868 PMID:25798958 PMID:25995486 PMID:26528880 PMID:28137300 PMID:28492532 NCBI chr 4:14,150,309...14,191,498
Ensembl chr 4:14,001,761...14,249,749
JBrowse link
G Serpine1 serpin family E member 1 severity ISO RGD PMID:18820218 RGD:13208509 NCBI chr12:22,641,104...22,651,482
Ensembl chr12:22,641,104...22,651,482
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 OMIM:614201 OMIM
ClinVar
PMID:19549989 PMID:19552682 NCBI chr 1:72,994,977...73,064,639
Ensembl chr 1:73,040,901...73,064,641
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 6:7,935,771...7,961,207
Ensembl chr 6:7,935,771...7,961,207
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
PMID:2955539 PMID:7929844 PMID:8428006 PMID:8613548 PMID:19828703 PMID:22517902 PMID:25741868 PMID:31064749, PMID:9835625 RGD:11059528 NCBI chr 7:11,253,153...11,259,233
Ensembl chr 7:11,253,180...11,257,977
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 OMIM NCBI chr 4:66,624,181...66,846,745
Ensembl chr 4:66,670,618...66,846,805
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 6:103,376,557...103,470,497
Ensembl chr 6:103,375,799...103,470,555
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 8:33,541,932...33,661,111
Ensembl chr 8:33,543,258...33,661,049
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
PMID:1638023 PMID:9834222 PMID:15099289 PMID:20020534 PMID:21454453 PMID:22102273 PMID:25539746 PMID:25741868 PMID:28492532 PMID:29090484 PMID:31064749 PMID:31119735 PMID:32581362, PMID:22394243, PMID:23912132, PMID:21029361, PMID:19691478 RGD:10766467, RGD:10755470, RGD:10755469, RGD:10755462 NCBI chr10:90,397,960...90,416,550
Ensembl chr10:90,398,132...90,415,070
JBrowse link
G Itgb3 integrin subunit beta 3 ISO ClinVar Annotator: match by OMIM:187800
ClinVar Annotator: match by term: Platelet-type bleeding disorder 16
DNA:missense mutations, deletions, insertion:exon:multiple
ClinVar
OMIM
PMID:18065693 PMID:19336737 PMID:19570064 PMID:19821948 PMID:20081061 PMID:20804530 PMID:21287507 PMID:22490273 PMID:22862885 PMID:23253071 PMID:24617330 PMID:25741868 PMID:28492532, PMID:23912132, PMID:22250950, PMID:19691478 RGD:10755470, RGD:10755466, RGD:10755462 NCBI chr10:92,667,869...92,783,413
Ensembl chr10:92,667,869...92,783,410
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:28041820 NCBI chr 3:7,190,721...7,203,444
Ensembl chr 3:7,190,722...7,203,420
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 1:221,771,238...221,788,765
Ensembl chr 1:221,773,254...221,788,765
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:26280575 PMID:26769223 PMID:29678925 PMID:32581362 NCBI chr10:70,493,340...70,504,810 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 PMID:31064749 PMID:32581362 PMID:32987389 NCBI chr 8:33,541,932...33,661,111
Ensembl chr 8:33,543,258...33,661,049
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 5:155,024,478...155,143,539
Ensembl chr 5:155,022,493...155,204,456
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
PMID:2052556 PMID:8384898 PMID:8486780 PMID:25741868 PMID:31064749, PMID:2052556, PMID:7833477, PMID:15705799 RGD:10450823, RGD:10450814, RGD:10450803 NCBI chr10:57,260,680...57,263,546
Ensembl chr10:57,260,680...57,263,546
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 PMID:31064749 NCBI chr 2:149,213,134...149,316,569
Ensembl chr 2:149,213,134...149,532,292
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 PMID:31064749 NCBI chr 2:149,440,807...149,482,592
Ensembl chr 2:149,441,598...149,444,548
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 2:46,996,904...47,097,011
Ensembl chr 2:47,000,323...47,096,961
JBrowse link
G Mocs2 molybdenum cofactor synthesis 2 ISO ClinVar Annotator: match by term: Platelet-type bleeding disorder 9 ClinVar NCBI chr 2:46,980,964...46,992,886
Ensembl chr 2:46,980,976...46,992,883
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 chr10:92,667,869...92,783,413
Ensembl chr10:92,667,869...92,783,410
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:28492532 NCBI chr15:3,644,296...3,650,765
Ensembl chr15:3,644,769...3,650,819
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 4:82,296,888...82,301,419
Ensembl chr 4:82,298,152...82,300,503
Ensembl chr 4:82,298,152...82,300,503
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 4:82,296,888...82,301,419
Ensembl chr 4:82,298,152...82,300,503
Ensembl chr 4:82,298,152...82,300,503
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 2:117,396,084...117,993,604
Ensembl chr 2:117,396,007...117,454,769
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:12623447 PMID:12745453 PMID:12944247 PMID:12944248 PMID:22190180 PMID:23332920 PMID:24492416 PMID:24570283 PMID:24591628 PMID:24619930 PMID:25044882 PMID:25326555 PMID:25577287 PMID:25741868 PMID:25918394 PMID:26184105 PMID:26436962 PMID:27066587 PMID:27239559 PMID:28492532 PMID:28624464 PMID:29237733 NCBI chr 1:167,373,894...167,533,412
Ensembl chr 1:167,373,678...167,533,420
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 PMID:29394990 NCBI chr 5:155,690,267...155,728,385
Ensembl chr 5:155,691,390...155,728,300
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:25741868 NCBI chr 5:137,268,412...137,282,032
Ensembl chr 5:137,269,480...137,281,298
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 PMID:16293597 PMID:16325696 PMID:16603627 PMID:16707754 PMID:16709929 PMID:16762626 PMID:17989398 PMID:18256599 PMID:18394554 PMID:19036091 PMID:19287384 PMID:19293426 PMID:20339092 PMID:20631743 PMID:20703299 PMID:21120162 PMID:21689158 PMID:22041374 PMID:22397670 PMID:22422826 PMID:22571758 PMID:22818858 PMID:22829971 PMID:23115274 PMID:24404189 PMID:24728327 PMID:24986690 PMID:25043017 PMID:25157968 PMID:25671252 PMID:25741868 PMID:28492532 PMID:30811597 PMID:32581362 NCBI chr 1:247,473,292...247,476,827
Ensembl chr 1:247,473,292...247,476,827
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 PMID:16293597 PMID:16325696 PMID:16603627 PMID:16707754 PMID:16709929 PMID:16762626 PMID:17989398 PMID:18256599 PMID:18394554 PMID:19036091 PMID:19287384 PMID:19293426 PMID:20339092 PMID:20631743 PMID:20703299 PMID:21120162 PMID:21689158 PMID:22041374 PMID:22397670 PMID:22422826 PMID:22571758 PMID:22818858 PMID:22829971 PMID:23115274 PMID:24404189 PMID:24728327 PMID:24986690 PMID:25043017 PMID:25157968 PMID:25671252 PMID:25741868 PMID:28492532 PMID:30811597 PMID:32581362 NCBI chr 1:247,398,667...247,457,521
Ensembl chr 1:247,398,598...247,458,509
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 6:7,935,771...7,961,207
Ensembl chr 6:7,935,771...7,961,207
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 6:7,961,413...7,980,708
Ensembl chr 6:7,961,413...7,980,708
JBrowse link
G Acbd5 acyl-CoA binding domain containing 5 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:25741868 PMID:28492532 NCBI chr17:89,882,465...89,923,982
Ensembl chr17:89,883,615...89,923,423
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 PMID:31237726 PMID:32581362 NCBI chr 6:103,376,557...103,470,497
Ensembl chr 6:103,375,799...103,470,555
JBrowse link
G Acvrl1 activin A receptor like type 1 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:24033266 PMID:28492532 NCBI chr 7:142,769,942...142,787,336
Ensembl chr 7:142,776,252...142,787,335
JBrowse link
G Adamts13 ADAM metallopeptidase with thrombospondin type 1 motif, 13 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar NCBI chr 3:5,519,921...5,558,390
Ensembl chr 3:5,519,990...5,558,166
JBrowse link
G Alb albumin ISO CTD Direct Evidence: marker/mechanism CTD PMID:6734075 NCBI chr14:19,176,275...19,191,793
Ensembl chr14:19,176,277...19,191,863
JBrowse link
G Ankrd26 ankyrin repeat domain 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 PMID:25741868 PMID:28492532 PMID:31064749 PMID:32581362 NCBI chr 4:150,548,656...150,616,928
Ensembl chr 4:150,547,467...150,616,895
JBrowse link
G Ap3b1 adaptor related protein complex 3 subunit beta 1 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:24,022,815...24,227,522
Ensembl chr 2:24,024,791...24,226,224
JBrowse link
G Ap3d1 adaptor related protein complex 3 subunit delta 1 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar NCBI chr 7:11,838,639...11,873,992
Ensembl chr 7:11,838,639...11,873,984
JBrowse link
G Arpc1b actin related protein 2/3 complex, subunit 1B ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar NCBI chr12:11,252,300...11,265,849
Ensembl chr12:11,252,296...11,265,865
JBrowse link
G Aspg asparaginase ISO CTD Direct Evidence: marker/mechanism CTD PMID:2187653 NCBI chr 6:136,682,279...136,701,673
Ensembl chr 6:136,682,126...136,701,628
JBrowse link
G Brip1 BRCA1 interacting protein C-terminal helicase 1 ISO human gene in a mouse model RGD PMID:15613547 RGD:11252148 NCBI chr10:73,507,009...73,632,742
Ensembl chr10:73,507,100...73,629,581
JBrowse link
G Cbr1 carbonyl reductase 1 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:32581362 NCBI chr11:33,813,041...33,815,418
Ensembl chr11:33,845,463...33,847,793
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 chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
JBrowse link
G Cd40lg CD40 ligand treatment ISO associated with Malaria RGD PMID:11865192 RGD:11352243 NCBI chr  X:159,703,703...159,714,886
Ensembl chr  X:159,703,578...159,716,562
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 PMID:12094328 PMID:12533788 PMID:12690581 PMID:14648717 PMID:14648718 PMID:14648719 PMID:15087378 PMID:15122511 PMID:15488637 PMID:15492928 PMID:15520402 PMID:16257342 PMID:16492927 PMID:16880452 PMID:17085682 PMID:18172190 PMID:19338683 PMID:19805189 PMID:21779515 PMID:21807500 PMID:21956126 PMID:22006311 PMID:22058428 PMID:22419737 PMID:22811390 PMID:22994785 PMID:23469205 PMID:24033266 PMID:24884479 PMID:25431674 PMID:25741868 PMID:26084796 PMID:26467025 PMID:26641009 PMID:26681312 PMID:26822237 PMID:26845104 PMID:26884562 PMID:26976419 PMID:27083775 PMID:27153395 PMID:27223485 PMID:27269948 PMID:27433846 PMID:27751358 PMID:27798748 PMID:28125075 PMID:28135145 PMID:28195393 PMID:28492532 PMID:28503720 PMID:28514723 PMID:28727877 PMID:28734145 PMID:28779002 PMID:28802053 PMID:28874143 PMID:29351919 PMID:29489754 PMID:29522266 PMID:31300551 PMID:31993860 PMID:32119081 PMID:32285038 PMID:32295079 PMID:32383162 PMID:32531112 NCBI chr12:51,845,574...51,878,098
Ensembl chr12:51,845,796...51,877,624
JBrowse link
G Clic6 chloride intracellular channel 6 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:32581362 NCBI chr11:32,655,653...32,698,004
Ensembl chr11:32,655,616...32,699,382
JBrowse link
G Col4a4 collagen type IV alpha 4 chain ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:24033266 PMID:25741868 NCBI chr 9:88,314,763...88,357,183
Ensembl chr 9:88,232,455...88,357,182
JBrowse link
G Col5a1 collagen type V alpha 1 chain ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:28492532 NCBI chr 3:6,430,180...6,581,010
Ensembl chr 3:6,430,201...6,578,882
JBrowse link
G Col5a2 collagen type V alpha 2 chain ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:52,091,088...52,238,735
Ensembl chr 9:52,092,511...52,238,564
JBrowse link
G Csf2 colony stimulating factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8297739 NCBI chr10:39,602,089...39,604,070
Ensembl chr10:39,602,089...39,604,070
JBrowse link
G Csf3 colony stimulating factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:7543699 PMID:12085204 NCBI chr10:86,616,785...86,619,160
Ensembl chr10:86,616,785...86,619,157
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
PMID:18345000 PMID:24326104 PMID:25741868 PMID:31064749 PMID:32581362, PMID:18345000, PMID:19172527 RGD:11352700, RGD:11352702 NCBI chr 4:80,331,226...80,333,326
Ensembl chr 4:80,331,227...80,333,326
JBrowse link
G Dync2li1 dynein cytoplasmic 2 light intermediate chain 1 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:25741868 PMID:31064749 NCBI chr 6:7,900,962...7,933,795
Ensembl chr 6:7,900,972...7,933,796
JBrowse link
G Epo erythropoietin ISO CTD Direct Evidence: therapeutic CTD PMID:8260696 NCBI chr12:22,274,828...22,278,268
Ensembl chr12:22,274,828...22,278,266
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 4:167,754,684...167,992,370
Ensembl chr 4:167,754,525...167,992,168
JBrowse link
G F10 coagulation factor X ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar NCBI chr16:81,803,169...81,822,476
Ensembl chr16:81,803,110...81,822,716
JBrowse link
G F11 coagulation factor XI ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:2052060 PMID:2813350 PMID:10593931 PMID:15026311 PMID:15140127 PMID:16835901 PMID:24033266 PMID:25741868 PMID:28492532 PMID:31064749 NCBI chr16:50,179,458...50,201,644
Ensembl chr16:50,179,458...50,201,698
JBrowse link
G F13a1 coagulation factor XIII A1 chain ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar NCBI chr17:28,504,650...28,680,015
Ensembl chr17:28,504,623...28,680,362
JBrowse link
G F5 coagulation factor V ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:28492532 NCBI chr13:82,479,997...82,535,540
Ensembl chr13:82,479,998...82,535,534
JBrowse link
G F7 coagulation factor VII treatment ISO human protein in a rat model
ClinVar Annotator: match by term: Thrombocytopenia
ClinVar PMID:19175492 RGD:11049531 NCBI chr16:81,824,610...81,834,923
Ensembl chr16:81,824,111...81,834,945
JBrowse link
G F8 coagulation factor VIII ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar NCBI chr18:367,862...399,242
Ensembl chr18:367,862...399,242
JBrowse link
G Fcgr2a Fc fragment of IgG receptor IIa ISO CTD Direct Evidence: marker/mechanism CTD PMID:11588041, PMID:10201963 RGD:11040944 NCBI chr13:91,146,878...91,163,691
Ensembl chr13:91,168,973...91,198,036
Ensembl chr13:91,168,973...91,198,036
JBrowse link
G Fga fibrinogen alpha chain treatment IMP
ISO
ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:28492532, PMID:2005585 RGD:10755505 NCBI chr 2:181,997,562...182,013,726
Ensembl chr 2:182,006,242...182,013,763
JBrowse link
G Fgb fibrinogen beta chain ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:10688828 PMID:19420351 PMID:24033266 PMID:25741868 PMID:28492532 PMID:31064749 NCBI chr 2:182,028,044...182,035,026
Ensembl chr 2:182,027,115...182,038,178
JBrowse link
G Fgg fibrinogen gamma chain ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:10688828 PMID:11019970 PMID:25741868 PMID:28492532 PMID:31064749 NCBI chr 2:181,987,080...181,994,523
Ensembl chr 2:181,987,217...181,994,514
JBrowse link
G Fli1 Fli-1 proto-oncogene, ETS transcription factor ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:24100448 PMID:32581362, PMID:15232614 RGD:1582490 NCBI chr 8:33,541,932...33,661,111
Ensembl chr 8:33,543,258...33,661,049
JBrowse link
G Flna filamin A ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr  X:156,460,785...156,487,245
Ensembl chr  X:156,463,953...156,487,245
JBrowse link
G Fyb1 FYN binding protein 1 ISS OMIM:188000 | OMIM:273900 | OMIM:300367 | OMIM:313900 | OMIM:612004 MouseDO NCBI chr 2:55,834,904...55,983,805
Ensembl chr 2:55,835,151...55,983,804
JBrowse link
G Gata1 GATA binding protein 1 ISO ClinVar Annotator: match by term: Thrombocytopenia
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:11418466 PMID:16966598 PMID:17763153 PMID:18041654 PMID:23278136 PMID:25741868 PMID:31064749 PMID:32581362, PMID:16966598 RGD:10450735 NCBI chr  X:15,273,937...15,281,759
Ensembl chr  X:15,378,789...15,382,066
JBrowse link
G Gba glucosylceramidase beta ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:1348297 PMID:1897529 PMID:1899336 PMID:1971142 PMID:2117855 PMID:2309702 PMID:2569551 PMID:3353383 PMID:7789963 PMID:8294487 PMID:8450045 PMID:8487270 PMID:8516282 PMID:9153297 PMID:9554746 PMID:10466427 PMID:10757640 PMID:10796875 PMID:12482401 PMID:12595585 PMID:14757438 PMID:15146461 PMID:16293621 PMID:16981045 PMID:17395504 PMID:17427031 PMID:18332251 PMID:18338393 PMID:18434642 PMID:18979180 PMID:18987351 PMID:19217815 PMID:19260119 PMID:19286695 PMID:19846850 PMID:20662857 PMID:20672374 PMID:20846888 PMID:20947659 PMID:20980259 PMID:21431620 PMID:21472771 PMID:22160715 PMID:22192918 PMID:22220748 PMID:22451204 PMID:22592100 PMID:22968580 PMID:23430543 PMID:23676350 PMID:24022302 PMID:24033266 PMID:24756352 PMID:25249066 PMID:25456120 PMID:25653295 PMID:25732996 PMID:25741868 PMID:25946768 PMID:26096741 PMID:26868973 PMID:26905200 PMID:27872820 PMID:28492532 PMID:28779532 PMID:28923368 PMID:29527153 PMID:33223529 NCBI chr 2:188,511,781...188,522,602
Ensembl chr 2:188,516,582...188,522,601
JBrowse link
G Gfi1b growth factor independent 1B transcriptional repressor ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:25741868 PMID:31064749 NCBI chr 3:7,190,721...7,203,444
Ensembl chr 3:7,190,722...7,203,420
JBrowse link
G Ggcx gamma-glutamyl carboxylase ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar NCBI chr 4:100,277,345...100,293,097
Ensembl chr 4:100,277,391...100,293,250
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:31064749 NCBI chr 5:59,511,738...59,553,421
Ensembl chr 5:59,512,872...59,553,416
JBrowse link
G Gp1ba glycoprotein Ib platelet subunit alpha ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:8384898 PMID:25741868 PMID:31064749, PMID:11001906 RGD:10450849 NCBI chr10:57,260,680...57,263,546
Ensembl chr10:57,260,680...57,263,546
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 chr11:86,520,992...86,522,169
Ensembl chr11:86,520,992...86,522,169
JBrowse link
G Gp6 glycoprotein VI ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar NCBI chr 1:72,994,977...73,064,639
Ensembl chr 1:73,040,901...73,064,641
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 PMID:25741868 PMID:28131619 PMID:28492532 PMID:28765788 PMID:31064749 NCBI chr 4:119,680,671...119,682,006
Ensembl chr 4:119,680,112...119,682,547
JBrowse link
G Hoxa11 homeobox A11 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar NCBI chr 4:82,296,888...82,301,419
Ensembl chr 4:82,298,152...82,300,503
Ensembl chr 4:82,298,152...82,300,503
JBrowse link
G Hps3 HPS3, biogenesis of lysosomal organelles complex 2 subunit 1 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar NCBI chr 2:104,789,423...104,832,964
Ensembl chr 2:104,789,423...104,830,898
JBrowse link
G Hps5 HPS5, biogenesis of lysosomal organelles complex 2 subunit 2 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:24033266 PMID:28492532 NCBI chr 1:102,810,114...102,849,430
Ensembl chr 1:102,776,082...102,849,430
JBrowse link
G Hps6 HPS6, biogenesis of lysosomal organelles complex 2 subunit 3 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar NCBI chr 1:265,761,818...265,764,427
Ensembl chr 1:265,761,738...265,764,437
JBrowse link
G Hrg histidine-rich glycoprotein ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar NCBI chr11:81,621,274...81,639,938
Ensembl chr11:81,621,283...81,639,952
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 1:85,236,243...85,237,775
Ensembl chr 1:85,236,243...85,237,775
JBrowse link
G Il10 interleukin 10 severity ISO associated with Malaria, Vivax RGD PMID:25128199, PMID:11091188 RGD:11041893, RGD:11049172 NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
JBrowse link
G Il1b interleukin 1 beta treatment ISO RGD PMID:1331350 RGD:10450883 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
JBrowse link
G Il3 interleukin 3 ISO CTD Direct Evidence: therapeutic CTD PMID:8202718 NCBI chr10:39,620,535...39,622,973
Ensembl chr10:39,620,563...39,622,973
JBrowse link
G Il6 interleukin 6 severity ISO associated with Malaria, Vivax RGD PMID:25128199 RGD:11041893 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
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 2:46,996,904...47,097,011
Ensembl chr 2:47,000,323...47,096,961
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
PMID:1638023 PMID:9834222 PMID:15225244 PMID:21454453 PMID:22102273 PMID:25741868 PMID:28492532 PMID:29090484 PMID:31064749 PMID:31119735 PMID:32581362, PMID:21454453 RGD:10755467 NCBI chr10:90,397,960...90,416,550
Ensembl chr10:90,398,132...90,415,070
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
PMID:15225244 PMID:25741868 PMID:28492532 PMID:31064749 PMID:32581362, PMID:19336737 RGD:10755449 NCBI chr10:92,667,869...92,783,413
Ensembl chr10:92,667,869...92,783,410
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 PMID:18662289, PMID:24519039 RGD:10766473 NCBI chr 3:123,209,611...123,221,266
Ensembl chr 3:123,209,608...123,221,269
JBrowse link
G Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:32581362 NCBI chr11:32,498,260...32,511,202
Ensembl chr11:32,498,261...32,508,420
JBrowse link
G Kcne2 potassium voltage-gated channel subfamily E regulatory subunit 2 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:32581362 NCBI chr11:32,434,786...32,447,264
Ensembl chr11:32,440,237...32,447,259
JBrowse link
G Klkb1 kallikrein B1 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar NCBI chr16:50,151,127...50,175,407
Ensembl chr16:50,152,008...50,175,458
JBrowse link
G LOC100364500 RT1 class I, locus CE11-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:3459889 NCBI chr20:2,704,153...2,707,111
Ensembl chr20:2,704,148...2,707,120
JBrowse link
G Lyst lysosomal trafficking regulator ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:25741868 PMID:28492532 NCBI chr17:90,323,055...90,522,091 JBrowse link
G Mastl microtubule associated serine/threonine kinase-like ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:25741868 PMID:28492532, PMID:12890928 RGD:1598951 NCBI chr17:89,839,562...89,875,855
Ensembl chr17:89,742,140...89,876,825
JBrowse link
G Mbl2 mannose binding lectin 2 susceptibility ISO associated with Dengue;DNA:SNP:exon: RGD PMID:18361938 RGD:11530042 NCBI chr 1:248,435,069...248,442,669
Ensembl chr 1:248,723,397...248,729,962
JBrowse link
G Mcfd2 multiple coagulation factor deficiency 2, ER cargo receptor complex subunit ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar NCBI chr 6:10,887,303...10,899,221
Ensembl chr 6:10,887,288...10,899,200
JBrowse link
G Mecom MDS1 and EVI1 complex locus ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:32581362 NCBI chr 2:117,396,084...117,993,604
Ensembl chr 2:117,396,007...117,454,769
JBrowse link
G Med12l mediator complex subunit 12L ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar NCBI chr 2:149,213,134...149,316,569
Ensembl chr 2:149,213,134...149,532,292
JBrowse link
G Mpig6b megakaryocyte and platelet inhibitory receptor G6b ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar NCBI chr20:5,054,419...5,056,655
Ensembl chr20:5,054,583...5,056,488
JBrowse link
G Mpl MPL proto-oncogene, thrombopoietin receptor ISO
IEP
congenital amegakaryocytic thrombocytopenia, OMIM:604498, DNA:point mutation:Q186X, frameshift:1499delT
ClinVar Annotator: match by term: Thrombocytopenia
associated with Lupus Erythematosus, Systemic
protein:decreased expression:blood, platelet (rat)
ClinVar PMID:8073287 PMID:10971406 PMID:11133753 PMID:11972523 PMID:16470591 PMID:18240171 PMID:18422784 PMID:19302922 PMID:21225925 PMID:21489838 PMID:21659346 PMID:24033266 PMID:24119002 PMID:24438083 PMID:24728327 PMID:25538044 PMID:25741868 PMID:26854587 PMID:28492532 PMID:28859041 PMID:31064749 PMID:32581362, PMID:10077649, PMID:8630375, PMID:12209520, PMID:15670044 RGD:1600454, RGD:10449017, RGD:10449011, RGD:10448997 NCBI chr 5:137,268,412...137,282,032
Ensembl chr 5:137,269,480...137,281,298
JBrowse link
G Mrps6 mitochondrial ribosomal protein S6 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:32581362 NCBI chr11:32,208,246...32,263,999
Ensembl chr11:32,211,115...32,263,899
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 PMID:19391036, PMID:23498762, PMID:23498762 RGD:10449418, RGD:10449418 NCBI chr 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
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 PMID:1449176 PMID:10739770 PMID:10973259 PMID:10973260 PMID:11159552 PMID:11590545 PMID:12621333 PMID:12649151 PMID:12792306 PMID:25741868 PMID:29090586 PMID:31064749, PMID:10973259 RGD:1600553 NCBI chr 7:118,740,005...118,792,507
Ensembl chr 7:118,741,110...118,792,625
JBrowse link
G Nbea neurobeachin ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar NCBI chr 2:145,011,648...145,513,439 JBrowse link
G Nbeal2 neurobeachin-like 2 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:28492532 NCBI chr 8:118,893,987...118,924,390
Ensembl chr 8:118,893,995...118,926,613
JBrowse link
G P2ry12 purinergic receptor P2Y12 ISO associated with Thrombosis
ClinVar Annotator: match by term: Thrombocytopenia
ClinVar PMID:21652673 RGD:6480523 NCBI chr 2:149,440,807...149,482,592
Ensembl chr 2:149,441,598...149,444,548
JBrowse link
G Pcid2 PCI domain containing 2 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar NCBI chr16:81,757,582...81,783,047
Ensembl chr16:81,756,971...81,783,047
JBrowse link
G Pecam1 platelet and endothelial cell adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10848805 NCBI chr10:94,850,971...94,913,202 JBrowse link
G Pf4 platelet factor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8282825 PMID:9158107 PMID:9446652 PMID:10381515 PMID:11588041 PMID:15795722 PMID:20162249 NCBI chr14:18,848,549...18,849,258
Ensembl chr14:18,848,549...18,849,258
JBrowse link
G Plat plasminogen activator, tissue type ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar NCBI chr16:74,098,263...74,122,897
Ensembl chr16:74,098,260...74,122,889
JBrowse link
G Plg plasminogen ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar NCBI chr 1:48,521,828...48,563,895
Ensembl chr 1:48,521,772...48,563,776
JBrowse link
G Pros1 protein S ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:8943854 PMID:20880255 PMID:25741868 PMID:28492532 PMID:31064749 NCBI chr 7:1,206,648...1,288,140
Ensembl chr 7:1,206,648...1,288,134
JBrowse link
G Proz protein Z, vitamin K-dependent plasma glycoprotein ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar NCBI chr16:81,784,348...81,797,889
Ensembl chr16:81,784,348...81,797,815
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 PMID:12960218 PMID:14974085 PMID:15001945 PMID:15240615 PMID:15248152 PMID:15539800 PMID:15723289 PMID:15834506 PMID:15929108 PMID:15956085 PMID:15987685 PMID:16078230 PMID:16124853 PMID:16263833 PMID:16358218 PMID:16377799 PMID:16399795 PMID:16498234 PMID:17020470 PMID:17143285 PMID:17339163 PMID:17515436 PMID:17546245 PMID:17661820 PMID:18253957 PMID:18331608 PMID:19077116 PMID:19133693 PMID:19352411 PMID:19509418 PMID:20308328 PMID:20979190 PMID:21340158 PMID:21407260 PMID:21567923 PMID:21590266 PMID:22190897 PMID:22465605 PMID:23726368 PMID:24033266 PMID:24628801 PMID:24803665 PMID:25326637 PMID:25741868 PMID:25912702 PMID:26467025 PMID:26785492 PMID:26817465 PMID:27521173 PMID:28483241 PMID:28492532 PMID:28650561 PMID:28957739 PMID:29493581 PMID:32581362 PMID:32860008 NCBI chr12:40,895,515...40,955,999
Ensembl chr12:40,895,515...40,955,999
JBrowse link
G Rasgrp2 RAS guanyl releasing protein 2 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar NCBI chr 1:221,771,238...221,788,765
Ensembl chr 1:221,773,254...221,788,765
JBrowse link
G Rcan1 regulator of calcineurin 1 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:32581362 NCBI chr11:32,539,689...32,620,274
Ensembl chr11:32,539,683...32,550,539
JBrowse link
G Runx1 RUNX family transcription factor 1 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:10508512 PMID:17485549 PMID:17650443 PMID:18723428 PMID:19357396 PMID:22318203 PMID:23751892 PMID:25741868 PMID:26316320 PMID:27112265 PMID:27418648 PMID:27479822 PMID:28492532 PMID:31064749 PMID:32581362, PMID:15784726 RGD:11251691 NCBI chr11:32,765,147...33,003,061
Ensembl chr11:32,769,165...33,003,021
JBrowse link
G Serpinc1 serpin family C member 1 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:1906811 PMID:2012760 PMID:25741868 PMID:28492532 NCBI chr13:78,806,107...78,820,375
Ensembl chr13:78,805,347...78,833,192
JBrowse link
G Setd4 SET domain containing 4 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:32581362 NCBI chr11:33,781,869...33,803,121
Ensembl chr11:33,781,870...33,801,999
JBrowse link
G Slc45a2 solute carrier family 45, member 2 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar NCBI chr 2:60,966,671...60,999,398
Ensembl chr 2:60,966,789...60,999,398
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 chr10:90,296,144...90,312,401
Ensembl chr10:90,296,141...90,312,386
JBrowse link
G Slc5a3 solute carrier family 5 member 3 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:32581362 NCBI chr11:32,229,366...32,231,812 JBrowse link
G Slfn14 schlafen family member 14 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:26280575 PMID:32581362 NCBI chr10:70,493,340...70,504,810 JBrowse link
G Smad4 SMAD family member 4 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar NCBI chr18:69,626,682...69,657,373
Ensembl chr18:69,627,757...69,671,199
JBrowse link
G Smim11a small integral membrane protein 11A ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:32581362 NCBI chr11:32,450,508...32,460,244
Ensembl chr11:32,450,587...32,460,238
JBrowse link
G Sparc secreted protein acidic and cysteine rich ISO CTD Direct Evidence: marker/mechanism CTD PMID:27725143 NCBI chr10:40,742,390...40,764,232
Ensembl chr10:40,742,400...40,764,185
JBrowse link
G Stxbp2 syntaxin binding protein 2 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:24916509 PMID:28399723 PMID:28492532 NCBI chr12:2,180,101...2,191,863
Ensembl chr12:2,180,150...2,191,175
JBrowse link
G Tbxa2r thromboxane A2 receptor IMP RGD PMID:2528013 RGD:11059527 NCBI chr 7:11,253,153...11,259,233
Ensembl chr 7:11,253,180...11,257,977
JBrowse link
G Tbxas1 thromboxane A synthase 1 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar NCBI chr 4:66,624,181...66,846,745
Ensembl chr 4:66,670,618...66,846,805
JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO protein:decreased expression:plasma: RGD PMID:22134166 RGD:11073617 NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
JBrowse link
G Thbd thrombomodulin ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:25741868 PMID:28492532 PMID:31064749 NCBI chr 3:142,748,673...142,752,325
Ensembl chr 3:142,748,674...142,752,325
JBrowse link
G Thpo thrombopoietin ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:25741868 PMID:31064749 NCBI chr11:82,845,676...82,853,439
Ensembl chr11:83,868,655...83,873,910
Ensembl chr11:83,868,655...83,873,910
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 chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Tnfrsf10b TNF receptor superfamily member 10b ISO CTD Direct Evidence: marker/mechanism CTD PMID:19652058 NCBI chr15:51,433,853...51,464,215 JBrowse link
G Tpm4 tropomyosin 4 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar NCBI chr16:19,385,810...19,399,851
Ensembl chr16:19,385,736...19,399,903
JBrowse link
G Tubb1 tubulin, beta 1 class VI ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:25741868 PMID:31064749 NCBI chr 3:172,550,252...172,558,089
Ensembl chr 3:172,550,258...172,558,114
JBrowse link
G Vps33b VPS33B, late endosome and lysosome associated ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:28492532 NCBI chr 1:142,060,955...142,083,955
Ensembl chr 1:142,060,955...142,083,953
JBrowse link
G Vwf von Willebrand factor ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:1581215 PMID:1832934 PMID:1906877 PMID:1918030 PMID:8500791 PMID:9684781 PMID:12211196 PMID:15461624 PMID:15670054 PMID:16953269 PMID:16985174 PMID:17190853 PMID:17200787 PMID:18315556 PMID:18712522 PMID:19566550 PMID:20301765 PMID:20409624 PMID:20586924 PMID:20981092 PMID:21371195 PMID:22197721 PMID:22875612 PMID:23426949 PMID:23636243 PMID:23648131 PMID:24029428 PMID:24033266 PMID:24928861 PMID:25741868 PMID:26207643 PMID:26467025 PMID:27320760 PMID:27443694 PMID:28581694 PMID:28971901 PMID:31064749 NCBI chr 4:158,085,059...158,219,525
Ensembl chr 4:158,088,505...158,219,523
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 PMID:12969986 PMID:15284122 PMID:19817875 PMID:21185603 PMID:23160469 PMID:25741868 PMID:28492532 PMID:28641574 PMID:31064749 NCBI chr  X:15,155,246...15,164,099
Ensembl chr  X:15,155,230...15,164,105
JBrowse link
G Wdr1 WD repeat domain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17515402 NCBI chr14:76,990,014...77,023,739
Ensembl chr14:76,989,919...77,023,726
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 6:25,149,570...25,211,273
Ensembl chr 6:25,149,235...25,211,494
JBrowse link
G Yme1l1 YME1-like 1 ATPase ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar NCBI chr17:89,701,899...89,741,919
Ensembl chr17:89,704,102...89,741,321
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:15,273,937...15,281,759
Ensembl chr  X:15,378,789...15,382,066
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 PMID:8666397 PMID:8757563 PMID:9326235 PMID:10575547 PMID:11167787 PMID:11442475 PMID:11793485 PMID:12199801 PMID:12591280 PMID:12727931 PMID:12969986 PMID:14504083 PMID:14612666 PMID:15284122 PMID:16562789 PMID:19817875 PMID:20173115 PMID:21185603 PMID:23160469 PMID:24210885 PMID:24728327 PMID:25741868 PMID:26261240 PMID:27264129 PMID:28492532 PMID:28641574 PMID:28931895 PMID:31064749 NCBI chr  X:15,155,246...15,164,099
Ensembl chr  X:15,155,230...15,164,105
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 26 ISO ClinVar Annotator: match by term: Thrombocytopenia 2
DNA:mutations:5'utr:
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:10521306 PMID:17666371 PMID:20626622 PMID:21211618 PMID:23677566 PMID:25741868 PMID:28492532 PMID:29185836 PMID:31064749 PMID:32581362, PMID:21467542 RGD:9681743 NCBI chr 4:150,548,656...150,616,928
Ensembl chr 4:150,547,467...150,616,895
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 chr17:89,839,562...89,875,855
Ensembl chr17:89,742,140...89,876,825
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:25876182 NCBI chr 2:55,834,904...55,983,805
Ensembl chr 2:55,835,151...55,983,804
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
PMID:18345000 PMID:24326104 PMID:25741868 PMID:30051457 PMID:31064749, PMID:24326104 RGD:11352699 NCBI chr 4:80,331,226...80,333,326
Ensembl chr 4:80,331,227...80,333,326
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:31248877 PMID:33179473 NCBI chr 4:167,754,684...167,992,370
Ensembl chr 4:167,754,525...167,992,168
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 3:153,547,807...153,595,643
Ensembl chr 3:153,580,861...153,595,642
JBrowse link
Thrombocytopenia 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ikzf5 IKAROS family zinc finger 5 ISO ClinVar Annotator: match by term: THROMBOCYTOPENIA 7 ClinVar
OMIM
PMID:32419556 NCBI chr 1:201,961,524...201,981,250
Ensembl chr 1:201,963,204...201,981,250
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 fragment of IgG receptor IIIa treatment ISO DNA:SNP:cds: RGD PMID:22775462 RGD:11040770 NCBI chr13:89,385,775...89,396,047
Ensembl chr13:89,385,859...89,396,051
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:27743390 NCBI chr20:5,054,419...5,056,655
Ensembl chr20:5,054,583...5,056,488
JBrowse link
thrombocytopenia-absent radius syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankrd34a ankyrin repeat domain 34A ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr 2:198,720,277...198,725,155
Ensembl chr 2:198,721,724...198,725,154
JBrowse link
G Ankrd35 ankyrin repeat domain 35 ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr 2:198,797,136...198,817,144
Ensembl chr 2:198,797,159...198,817,146
JBrowse link
G Hjv hemojuvelin BMP co-receptor ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr 2:198,655,437...198,659,318
Ensembl chr 2:198,655,437...198,659,317
JBrowse link
G Itga10 integrin subunit alpha 10 ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr 2:198,772,937...198,792,253
Ensembl chr 2:198,772,937...198,792,253
JBrowse link
G Lix1l limb and CNS expressed 1 like ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr 2:198,726,110...198,751,987
Ensembl chr 2:198,726,118...198,751,985
JBrowse link
G Nudt17 nudix hydrolase 17 ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr 2:198,831,546...198,836,191
Ensembl chr 2:198,831,546...198,834,925
JBrowse link
G Pex11b peroxisomal biogenesis factor 11 beta ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr 2:198,762,138...198,771,040
Ensembl chr 2:198,762,138...198,771,026
JBrowse link
G Pias3 protein inhibitor of activated STAT, 3 ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr 2:198,821,377...198,831,533
Ensembl chr 2:198,823,366...198,836,372
JBrowse link
G Polr3c RNA polymerase III subunit C ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr 2:198,836,282...198,852,368
Ensembl chr 2:198,836,285...198,852,161
JBrowse link
G Polr3gl RNA polymerase III subunit GL ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr 2:198,698,044...198,719,609
Ensembl chr 2:198,702,587...198,719,202
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:16501574 PMID:17236129 PMID:22366785 PMID:23754559 PMID:24033266 PMID:24053387 PMID:24220582 PMID:25741868 PMID:27320760 PMID:27846804 PMID:28492532 PMID:28857120 PMID:32227665 NCBI chr 2:198,755,261...198,758,028
Ensembl chr 2:198,755,262...198,758,028
JBrowse link
G Txnip thioredoxin interacting protein ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr 2:198,683,168...198,686,971
Ensembl chr 2:198,683,159...198,686,974
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 4:119,680,671...119,682,006
Ensembl chr 4:119,680,112...119,682,547
JBrowse link
G Itga2b integrin subunit alpha 2b ISO RGD PMID:11493456 RGD:2316362 NCBI chr10:90,397,960...90,416,550
Ensembl chr10:90,398,132...90,415,070
JBrowse link
G Itgb3 integrin subunit beta 3 ISO associated with HIV Infections RGD PMID:11493456, PMID:8565280 RGD:2316362, RGD:10755471 NCBI chr10:92,667,869...92,783,413
Ensembl chr10:92,667,869...92,783,410
JBrowse link
G Vwf von Willebrand factor ISO RGD PMID:14727254 RGD:1580644 NCBI chr 4:158,085,059...158,219,525
Ensembl chr 4:158,088,505...158,219,523
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 PMID:26608331 RGD:11352752 NCBI chr19:25,956,771...25,961,666
Ensembl chr19:25,956,771...25,961,666
JBrowse link
G Cpb2 carboxypeptidase B2 ISO RGD PMID:16244771 RGD:1598473 NCBI chr15:57,290,849...57,339,762
Ensembl chr15:57,290,849...57,339,760
JBrowse link
G Epor erythropoietin receptor ISO RGD PMID:8400289 RGD:11041647 NCBI chr 8:22,969,737...22,974,468
Ensembl chr 8:22,969,745...22,974,321
JBrowse link
G Il1b interleukin 1 beta ISO RGD PMID:2265245 RGD:10450885 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
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 PMID:19287382 PMID:19287384, PMID:15781101, PMID:22467227, PMID:24398328 RGD:1627655, RGD:15039391, RGD:10449375 NCBI chr 1:247,398,667...247,457,521
Ensembl chr 1:247,398,598...247,458,509
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 PMID:15813844 PMID:16484586, PMID:19036112 RGD:11073684 NCBI chr 5:137,268,412...137,282,032
Ensembl chr 5:137,269,480...137,281,298
JBrowse link
G Pcdha1 protocadherin alpha 1 ISO ClinVar Annotator: match by term: Thrombocytosis ClinVar PMID:25741868 NCBI chr18:29,951,094...30,215,896 JBrowse link
G Pcdha10 protocadherin alpha 10 ISO ClinVar Annotator: match by term: Thrombocytosis ClinVar PMID:25741868 NCBI chr18:30,010,918...30,215,896
Ensembl chr18:29,987,206...30,215,897
JBrowse link
G Pcdha2 protocadherin alpha 2 ISO ClinVar Annotator: match by term: Thrombocytosis ClinVar PMID:25741868 NCBI chr18:29,960,072...30,215,896 JBrowse link
G Pcdha3 protocadherin alpha 3 ISO ClinVar Annotator: match by term: Thrombocytosis ClinVar PMID:25741868 NCBI chr18:29,966,245...30,215,896 JBrowse link
G Pcdha4 protocadherin alpha 4 ISO ClinVar Annotator: match by term: Thrombocytosis ClinVar PMID:25741868 NCBI chr18:29,950,217...30,215,901
Ensembl chr18:29,987,206...30,215,897
Ensembl chr18:29,987,206...30,215,897
Ensembl chr18:29,987,206...30,215,897
JBrowse link
G Pcdha5 protocadherin alpha 5 ISO ClinVar Annotator: match by term: Thrombocytosis ClinVar PMID:25741868 NCBI chr18:29,980,268...30,215,897 JBrowse link
G Pcdha6 protocadherin alpha 6 ISO ClinVar Annotator: match by term: Thrombocytosis ClinVar PMID:25741868 NCBI chr18:29,987,206...30,215,896
Ensembl chr18:29,987,206...30,215,897
JBrowse link
G Pcdha7 protocadherin alpha 7 ISO ClinVar Annotator: match by term: Thrombocytosis ClinVar PMID:25741868 NCBI chr18:29,993,361...30,215,896
Ensembl chr18:29,987,206...30,215,897
JBrowse link
G Pcdha8 protocadherin alpha 8 ISO ClinVar Annotator: match by term: Thrombocytosis ClinVar PMID:25741868 NCBI chr18:29,999,290...30,215,896
Ensembl chr18:29,987,206...30,215,897
JBrowse link
G Pcdha9 protocadherin alpha 9 ISO ClinVar Annotator: match by term: Thrombocytosis ClinVar PMID:25741868 NCBI chr18:30,004,565...30,215,897
Ensembl chr18:29,987,206...30,215,897
JBrowse link
G Sh2b3 SH2B adaptor protein 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr12:40,261,990...40,265,757
Ensembl chr12:40,244,081...40,265,757
JBrowse link
G Thpo thrombopoietin susceptibility ISO DNA:deletion:5' utr
CTD Direct Evidence: marker/mechanism
CTD PMID:15813844, PMID:9694695 RGD:1601655 NCBI chr11:82,845,676...82,853,439
Ensembl chr11:83,868,655...83,873,910
Ensembl chr11:83,868,655...83,873,910
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:16470591 PMID:18451306 PMID:18528423 PMID:19483125 PMID:19608689 PMID:20151976 PMID:21489838 PMID:23970983 PMID:24033266 PMID:24728327 PMID:25741868 PMID:28492532 PMID:31064749 NCBI chr 5:137,268,412...137,282,032
Ensembl chr 5:137,269,480...137,281,298
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 3:5,519,921...5,558,390
Ensembl chr 3:5,519,990...5,558,166
JBrowse link
G C3 complement C3 treatment IDA RGD PMID:11532096 RGD:5129554 NCBI chr 9:9,721,137...9,747,084
Ensembl chr 9:9,721,105...9,747,167
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 chr13:56,979,155...57,080,540
Ensembl chr13:56,978,607...57,080,622
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 2:235,264,149...235,305,779
Ensembl chr 2:235,264,219...235,305,781
JBrowse link
G Cpb2 carboxypeptidase B2 ISO DNA:polymorphism: ;1542C>G(human) RGD PMID:17327284 RGD:7243121 NCBI chr15:57,290,849...57,339,762
Ensembl chr15:57,290,849...57,339,760
JBrowse link
G F3 coagulation factor III, tissue factor ISO RGD PMID:19535796 RGD:11341690 NCBI chr 2:225,310,686...225,322,281
Ensembl chr 2:225,310,624...225,322,272
JBrowse link
G Fgg fibrinogen gamma chain ISO RGD PMID:17038160 RGD:11352673 NCBI chr 2:181,987,080...181,994,523
Ensembl chr 2:181,987,217...181,994,514
JBrowse link
G Itgb3 integrin subunit beta 3 ISO associated with Chronic Allograft Dysfunction;protein:increased expression:arteriole RGD PMID:18234279 RGD:10755463 NCBI chr10:92,667,869...92,783,413
Ensembl chr10:92,667,869...92,783,410
JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility ISO DNA:transition:cds:g.677C>T (human) RGD PMID:19448163 RGD:6893633 NCBI chr 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
JBrowse link
G Nos2 nitric oxide synthase 2 IEP protein:Increased expression:kidney:neutrophil, endothelial cell, kidney: RGD PMID:10908153 RGD:11533936 NCBI chr10:66,188,290...66,221,621
Ensembl chr10:66,189,786...66,313,190
JBrowse link
G Nos3 nitric oxide synthase 3 IEP protein:decreased expression:kidney: RGD PMID:10908153 RGD:11533936 NCBI chr 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410
JBrowse link
G Vegfa vascular endothelial growth factor A ISO CTD Direct Evidence: marker/mechanism CTD PMID:22808199 NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
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 4:158,085,059...158,219,525
Ensembl chr 4:158,088,505...158,219,523
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
PMID:6433703 PMID:7094941 PMID:11563771 PMID:11586351 PMID:12181489 PMID:12393505 PMID:12576319 PMID:12656756 PMID:12753286 PMID:14512317 PMID:14563640 PMID:14597993 PMID:15009458 PMID:15126318 PMID:15521921 PMID:15800115 PMID:16453338 PMID:16796708 PMID:16807643 PMID:17003922 PMID:17187257 PMID:17627784 PMID:18031293 PMID:18443791 PMID:18481107 PMID:18581589 PMID:18665921 PMID:19047683 PMID:19055667 PMID:19786614 PMID:19847791 PMID:20647566 PMID:20886194 PMID:21488199 PMID:21676167 PMID:21781265 PMID:22289888 PMID:22529288 PMID:22768050 PMID:23346910 PMID:23621748 PMID:23648131 PMID:23715102 PMID:23847193 PMID:24033266 PMID:24936513 PMID:25442981 PMID:25741868 PMID:25934476 PMID:26081109 PMID:26566785 PMID:27132698 PMID:27802307 PMID:28492532 PMID:30312976 PMID:30792199 PMID:31064749 PMID:31971692, PMID:18031293, PMID:11586351, PMID:16200209, PMID:9129011 RGD:10449043, RGD:1598736, RGD:10449037, RGD:10449028 NCBI chr 3:5,519,921...5,558,390
Ensembl chr 3:5,519,990...5,558,166
JBrowse link
G Cd36 CD36 molecule ISO RGD PMID:7529543 RGD:11041104 NCBI chr 4:14,150,309...14,191,498
Ensembl chr 4:14,001,761...14,249,749
JBrowse link
G F3 coagulation factor III, tissue factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:7740478 NCBI chr 2:225,310,686...225,322,281
Ensembl chr 2:225,310,624...225,322,272
JBrowse link
G Proc protein C, inactivator of coagulation factors Va and VIIIa ISO RGD PMID:10936861 RGD:11100014 NCBI chr18:24,918,402...24,928,822
Ensembl chr18:24,918,398...24,929,091
JBrowse link
G RT1-Bb RT1 class II, locus Bb ISO DNA:polymorphisms:cds:HLA-DQB1*0301 (human) RGD PMID:19922436 RGD:11041754 NCBI chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
JBrowse link
G Tfpi tissue factor pathway inhibitor treatment ISO CTD Direct Evidence: marker/mechanism CTD PMID:7740478, PMID:7740478 RGD:11340214 NCBI chr 3:71,852,738...71,902,127
Ensembl chr 3:71,852,744...71,893,618
JBrowse link
G Thbd thrombomodulin ISO CTD Direct Evidence: marker/mechanism CTD PMID:7740478 NCBI chr 3:142,748,673...142,752,325
Ensembl chr 3:142,748,674...142,752,325
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 3:5,519,921...5,558,390
Ensembl chr 3:5,519,990...5,558,166
JBrowse link
G Vwf von Willebrand factor treatment ISO RGD PMID:26863353 RGD:11079195 NCBI chr 4:158,085,059...158,219,525
Ensembl chr 4:158,088,505...158,219,523
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 6:10,887,303...10,899,221
Ensembl chr 6:10,887,288...10,899,200
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 PMID:12043692 PMID:14613933 PMID:16870550 PMID:16889557 PMID:16925796 PMID:17080221 PMID:18230755 PMID:21346256 PMID:23647798 PMID:25741868 PMID:26467025 PMID:26986123 PMID:31064749 PMID:32581362 NCBI chr 4:158,085,059...158,219,525
Ensembl chr 4:158,088,505...158,219,523
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 2:225,310,686...225,322,281
Ensembl chr 2:225,310,624...225,322,272
JBrowse link
G Vwf von Willebrand factor treatment ISO
ISS
ClinVar Annotator: match by term: von Willebrand disorder
ClinVar Annotator: match by term: Von Willebrand disease, recessive form
ClinVar Annotator: match by term: von Willebrand Diseases
ClinVar
MouseDO
PMID:1301136 PMID:1302613 PMID:1324533 PMID:1380739 PMID:1415226 PMID:1419803 PMID:1537829 PMID:1557393 PMID:1581215 PMID:1672694 PMID:1673047 PMID:1729889 PMID:1761120 PMID:1832934 PMID:1906877 PMID:1918030 PMID:2010538 PMID:2385594 PMID:3257148 PMID:3259690 PMID:3487353 PMID:3488775 PMID:6696046 PMID:6773982 PMID:7620154 PMID:7734373 PMID:7906590 PMID:8088787 PMID:8134377 PMID:8165603 PMID:8367445 PMID:8456430 PMID:8456431 PMID:8486782 PMID:8500791 PMID:8562925 PMID:8621553 PMID:8630394 PMID:8865541 PMID:9253800 PMID:9308766 PMID:9684781 PMID:9723578 PMID:10669167 PMID:10845912 PMID:10959712 PMID:11057846 PMID:11150026 PMID:11159522 PMID:11325649 PMID:11583318 PMID:11756169 PMID:11776047 PMID:12043692 PMID:12080112 PMID:12211196 PMID:12649144 PMID:14525793 PMID:14613933 PMID:15041272 PMID:15297300 PMID:15461624 PMID:15670054 PMID:15755288 PMID:15842375 PMID:16115133 PMID:16221672 PMID:16246252 PMID:16247740 PMID:16321553 PMID:16322474 PMID:16870550 PMID:16889557 PMID:16925796 PMID:16953269 PMID:16985174 PMID:17000885 PMID:17080221 PMID:17087728 PMID:17119126 PMID:17155947 PMID:17190853 PMID:17200787 PMID:17296575 PMID:17681836 PMID:18036186 PMID:18162126 PMID:18230755 PMID:18315546 PMID:18315556 PMID:18344424 PMID:18384353 PMID:18449422 PMID:18485763 PMID:18510569 PMID:18712522 PMID:18805962 PMID:18841300 PMID:18986390 PMID:19060241 PMID:19277422 PMID:19404524 PMID:19506353 PMID:19506354 PMID:19506361 PMID:19566550 PMID:19630771 PMID:19630772 PMID:19687512 PMID:19740526 PMID:19951969 PMID:20118404 PMID:20230424 PMID:20231421 PMID:20301765 PMID:20305138 PMID:20345715 PMID:20351307 PMID:20409624 PMID:20418283 PMID:20492463 PMID:20586924 PMID:20590881 PMID:20682599 PMID:20713003 PMID:20838735 PMID:20981092 PMID:21251206 PMID:21346256 PMID:21362127 PMID:21371195 PMID:21393328 PMID:21429375 PMID:21534937 PMID:21711445 PMID:21794096 PMID:21967679 PMID:22077376 PMID:22102201 PMID:22197721 PMID:22315491 PMID:22329792 PMID:22372972 PMID:22431572 PMID:22473027 PMID:22578129 PMID:22871923 PMID:22875612 PMID:22995991 PMID:23110044 PMID:23179108 PMID:23216583 PMID:23335371 PMID:23340442 PMID:23349392 PMID:23354996 PMID:23355534 PMID:23406206 PMID:23407766 PMID:23426949 PMID:23636243 PMID:23647798 PMID:23648131 PMID:23690449 PMID:23775583 PMID:23819767 PMID:23886775 PMID:24029428 PMID:24033266 PMID:24351655 PMID:24385719 PMID:24482836 PMID:24675615 PMID:24712919 PMID:24800796 PMID:24928861 PMID:25051961 PMID:25103891 PMID:25185554 PMID:25293780 PMID:25431025 PMID:25477497 PMID:25564403 PMID:25662333 PMID:25689060 PMID:25690668 PMID:25696906 PMID:25741868 PMID:25753785 PMID:25779970 PMID:25780857 PMID:25851809 PMID:26200876 PMID:26206100 PMID:26207643 PMID:26210168 PMID:26345337 PMID:26456374 PMID:26467025 PMID:26827609 PMID:26879396 PMID:26986123 PMID:26988807 PMID:27029718 PMID:27320760 PMID:27353798 PMID:27380589 PMID:27443694 PMID:27532107 PMID:27596108 PMID:27683759 PMID:27766062