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 |
|
Accession: | DOID:2218
|
browse the term
|
Definition: | A blood coagulation disease that is characterized by an abnormal increase or decrease in platelets or platelet dysfunction. (DO) |
Synonyms: | exact_synonym: | blood platelet disorder; blood platelet disorders; platelet disorder; thrombocytopathies; thrombocytopathy |
| narrow_synonym: | Thrombopathia |
| primary_id: | MESH:D001791 |
| alt_id: | OMIA:001003 |
| xref: | NCI:C131634; OMIM:PS231200 |
For additional species annotation, visit the
Alliance of Genome Resources.
|
|
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
G |
Mir409 |
microRNA 409 |
treatment |
ISO |
|
RGD |
PMID:23360331 |
RGD:10755694 |
NCBI chr 6:133,893,419...133,893,495
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
|
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
|
|
|
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
|
|
|
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
|
|
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
|
|
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
|
|
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
|
|
|
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
|
|
|
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
|
|
|
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
|
|
|
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
|
|
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
|
|
|
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
|
|
|
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
|
|
|
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
|
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
G |
LOC100909954 |
uncharacterized LOC100909954 |
|
ISO |
ClinVar Annotator: match by term: Essential thrombocythemia |
ClinVar |
|
|
NCBI chr 6:129,259,581...129,322,113
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
|
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
|
|
|
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
|
|
|
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
|
|
|
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
|
|
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
|
|
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
|
|
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
|
|
|
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
|
|
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
|
|
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
|
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
|
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
|
|
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
|
|
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
|
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
G |
Kxd1 |
KxDL motif containing 1 |
|
ISS |
|
MouseDO |
|
|
NCBI chr16:20,652,863...20,666,581
Ensembl chr16:20,657,099...20,666,579
|
|
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
|
|
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
|
|
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
|
|
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
|
|
|
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
|
|
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
|
|
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
|
|
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
|
|
|
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
|
|
|
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
|
|
|
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
|
|
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
|
|
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
|
|
|
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
|
|
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
|
|
|
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
|
|
|
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
|
|
|
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
|
|
|
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
|
|
|
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
|
|
|
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
|
|
|
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
|
|
|
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
|
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
|
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
|
|
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
|
|
|
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
|
|
|
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
|
|
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
|
|
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
|
|
|
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
|
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
G |
Lyst |
lysosomal trafficking regulator |
|
ISS |
OMIM:185050 |
MouseDO |
|
|
NCBI chr17:90,323,055...90,522,091
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
|
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
|
|
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
|
|
|
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
|
|
|
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
|
|
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
|
|
|
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
|
|
|
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
|
|
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
|
|
|
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
|
|
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
|
|
|
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
|
|
|
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
|
|
|
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
|
|
|
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
|
|
|
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
|
|
|
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
|
|
|
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
|
|
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
|
|
|
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
|
|
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
|
|
|
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
|
|
|
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
|
|
|
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
|
|
|
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
|
|
|
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
|
|
|
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
|
|
|
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
|
|
|
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
|
|
|
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
|
|
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
|
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
G |
Nbea |
neurobeachin |
|
ISO |
ClinVar Annotator: match by term: Thrombocytopenia |
ClinVar |
|
|
NCBI chr 2:145,011,648...145,513,439
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
G |
Tnfrsf10b |
TNF receptor superfamily member 10b |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19652058 |
|
NCBI chr15:51,433,853...51,464,215
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
|
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
|
|
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
|
|
|
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
|
|
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
|
|
|
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
|
|
|
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
|
|
|
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
|
|
|
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
|
|
|
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
|
|
|
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
|
|
|
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
|
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
|
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
|
|
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
|
|
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
|
|
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
|
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
G |
Pcdha1 |
protocadherin alpha 1 |
|
ISO |
ClinVar Annotator: match by term: Thrombocytosis |
ClinVar |
PMID:25741868 |
|
NCBI chr18:29,951,094...30,215,896
|
|
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
|
|
G |
Pcdha2 |
protocadherin alpha 2 |
|
ISO |
ClinVar Annotator: match by term: Thrombocytosis |
ClinVar |
PMID:25741868 |
|
NCBI chr18:29,960,072...30,215,896
|
|
G |
Pcdha3 |
protocadherin alpha 3 |
|
ISO |
ClinVar Annotator: match by term: Thrombocytosis |
ClinVar |
PMID:25741868 |
|
NCBI chr18:29,966,245...30,215,896
|
|
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
|
|
G |
Pcdha5 |
protocadherin alpha 5 |
|
ISO |
ClinVar Annotator: match by term: Thrombocytosis |
ClinVar |
PMID:25741868 |
|
NCBI chr18:29,980,268...30,215,897
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
|
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
|
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
|
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
|
|
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
|
|
|
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
|
|
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
|
|
|
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
|
|
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 | |