RGD DISEASE ONTOLOGY - ANNOTATIONS |
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RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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Term: | blood platelet disease |
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Accession: | DOID:2218
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browse the term
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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.
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Ankrd26 |
ankyrin repeat domain containing 26 |
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ISO |
ClinVar Annotator: match by term: Platelet disorder |
ClinVar |
PMID:23677566 PMID:25741868 PMID:31064749 |
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NCBI chr 4:151,670,604...151,740,032
Ensembl chr 4:151,672,037...151,739,968
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Cd36 |
CD36 molecule |
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ISO |
CD36 deficiency, OMIM:608404, DNA:point mutation, frameshift mutation ClinVar Annotator: match by term: Platelet disorder |
ClinVar RGD |
PMID:7533783 PMID:7686693 PMID:10946357 PMID:11019968 PMID:11718687 PMID:11950861 PMID:15282206 PMID:24033266 PMID:24917573 PMID:24960640 PMID:25798958 PMID:11950861 More...
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RGD:1600629 |
NCBI chr 4:17,317,343...17,410,084
Ensembl chr 4:17,354,466...17,513,903
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Fermt3 |
FERM domain containing kindlin 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18278053 |
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NCBI chr 1:204,189,483...204,207,683
Ensembl chr 1:204,189,484...204,207,587
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Pla2g4a |
phospholipase A2 group IVA |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18451993 |
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NCBI chr13:61,877,818...62,022,261
Ensembl chr13:61,877,813...62,022,266
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Runx1 |
RUNX family transcription factor 1 |
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ISO |
ClinVar Annotator: match by term: Platelet disorder |
ClinVar |
PMID:10508512 PMID:11830488 PMID:22012064 PMID:23848403 PMID:25741868 PMID:25840971 PMID:26175287 PMID:26916619 PMID:27210295 PMID:28492532 PMID:28960434 PMID:31048839 More...
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NCBI chr11:31,839,880...32,074,427
Ensembl chr11:31,843,764...32,074,542
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Stxbp2 |
syntaxin binding protein 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30696774 |
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NCBI chr12:1,689,364...1,701,145
Ensembl chr12:1,689,410...1,700,458
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Tbxa2r |
thromboxane A2 receptor |
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ISO |
DNA:mutation:cds:p.R60L(human) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:7929844 PMID:19828703 PMID:7929844 |
RGD:1578439 |
NCBI chr 7:8,383,347...8,390,753
Ensembl chr 7:8,383,378...8,388,176
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Adamts13 |
ADAM metallopeptidase with thrombospondin type 1 motif, 13 |
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ISO |
protein:decreased activity:serum (human) ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome |
ClinVar RGD |
PMID:12753286 PMID:17187257 PMID:17627784 PMID:23715102 PMID:25741868 PMID:28492532 PMID:28748566 PMID:28866379 PMID:30046676 PMID:32183147 PMID:12640381 More...
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RGD:10449096 |
NCBI chr 3:10,299,264...10,338,464
Ensembl chr 3:10,300,028...10,346,687
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Baat |
bile acid CoA:amino acid N-acyltransferase |
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ISO |
ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1 |
ClinVar |
PMID:17182750 PMID:20301541 |
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NCBI chr 5:63,851,668...63,860,641
Ensembl chr 5:63,850,705...63,860,685
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C2 |
complement C2 |
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ISO |
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome |
ClinVar |
PMID:1577763 PMID:2249879 PMID:6308626 PMID:8181962 PMID:9616367 PMID:16199547 PMID:16518403 PMID:16936732 PMID:18806293 PMID:20108004 PMID:20513133 PMID:21541267 PMID:22440158 PMID:24033266 PMID:24652797 PMID:25741868 PMID:28492532 More...
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NCBI chr20:3,951,474...3,970,376
Ensembl chr20:3,951,474...3,976,505
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C3 |
complement C3 |
susceptibility |
ISO |
DNA:missense mutations: :p.F603V, p.R1042L, p.I1157T (human) ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome CTD Direct Evidence: marker/mechanism |
ClinVar OMIM CTD RGD |
PMID:1976733 PMID:14639503 PMID:17634448 PMID:18325906 PMID:18796626 PMID:19168221 PMID:19590060 PMID:20203157 PMID:20301541 PMID:20595690 PMID:21125405 PMID:22246034 PMID:22669319 PMID:23307876 PMID:23314101 PMID:23431077 PMID:24036949 PMID:24036950 PMID:24036952 PMID:24736606 PMID:24845532 PMID:25188723 PMID:25608561 PMID:25741868 PMID:25879158 PMID:25951460 PMID:26283675 PMID:26559391 PMID:26613027 PMID:28187980 PMID:28492532 PMID:28596415 PMID:28752844 PMID:29500241 PMID:29566171 PMID:29888403 PMID:30046676 PMID:30131807 PMID:30773290 PMID:30890598 PMID:31865800 PMID:32265146 PMID:32342491 PMID:32424742 PMID:32950058 PMID:33213850 PMID:33456446 PMID:33609329 PMID:34169201 PMID:20513133 PMID:17517971 More...
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RGD:11040768, RGD:7364995 |
NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429
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C3ar1 |
complement C3a receptor 1 |
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ISO |
ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1 |
ClinVar |
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NCBI chr 4:156,074,747...156,084,680
Ensembl chr 4:156,075,389...156,084,701
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Cd46 |
CD46 molecule |
susceptibility severity |
ISO |
DNA:snp:intron:c.IVS8+23T>G (rs2724374) (human) ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome | ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2 ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome | ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2 ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome | ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2 ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome | ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2 CTD Direct Evidence: marker/mechanism protein:increased expression:peripheral blood mononuclear cell (human) DNA:mutations:cds:multiple (human) DNA:missense mutations:cds:p.R69W, p.A304V (human) |
ClinVar OMIM CTD RGD |
PMID:270646 PMID:2431077 PMID:3480783 PMID:9551389 PMID:10528197 PMID:11414356 PMID:14566051 PMID:14615110 PMID:16199547 PMID:16621965 PMID:16762990 PMID:16882452 PMID:17089378 PMID:19376828 PMID:20059470 PMID:20513133 PMID:21706448 PMID:21810760 PMID:23314101 PMID:23431077 PMID:23519521 PMID:23731345 PMID:23780777 PMID:24005975 PMID:24029428 PMID:24033266 PMID:24161037 PMID:24247905 PMID:24460647 PMID:24944786 PMID:25381125 PMID:25525159 PMID:25741868 PMID:25899302 PMID:25951460 PMID:26054645 PMID:26307634 PMID:26559391 PMID:27399110 PMID:28056875 PMID:28492532 PMID:28509134 PMID:28752844 PMID:29500241 PMID:29566171 PMID:29644059 PMID:30046676 PMID:30305631 PMID:30609409 PMID:30676336 PMID:33213850 PMID:33224962 PMID:34169201 PMID:20513133 PMID:16353080 PMID:20595690 PMID:17914026 More...
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RGD:11040768, RGD:11352810, RGD:11038684, RGD:11352768 |
NCBI chr13:106,575,586...106,606,325
Ensembl chr13:106,574,858...106,660,445
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Cep290 |
centrosomal protein 290 |
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ISO |
ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome |
ClinVar |
PMID:25439097 PMID:25741868 PMID:28224992 PMID:28492532 PMID:29482223 PMID:31624253 PMID:33726816 PMID:34795310 More...
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NCBI chr 7:35,310,071...35,399,392
Ensembl chr 7:35,310,199...35,399,392
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Cfb |
complement factor B |
susceptibility |
ISO |
DNA:nonsense mutations: :multiple ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome CTD Direct Evidence: marker/mechanism DNA, protein:mutations:cds: c.858C>G, F286L, c.967A>G, K323E (human) |
ClinVar OMIM CTD RGD |
PMID:1577763 PMID:2249879 PMID:6308626 PMID:7452889 PMID:8181962 PMID:9616367 PMID:16199547 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:26283675 PMID:26826462 PMID:27268256 PMID:27870017 PMID:28461395 PMID:28492532 PMID:28682564 PMID:29148534 PMID:29563339 PMID:34169201 PMID:34177949 PMID:20513133 PMID:17182750 More...
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RGD:11040768, RGD:7242707 |
NCBI chr20:3,970,643...3,976,510
Ensembl chr20:3,951,474...3,976,505
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Cfh |
complement factor H |
susceptibility |
IMP ISO |
DNA:deletion:Cds: ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1 ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 6 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1 ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1 CTD Direct Evidence: marker/mechanism DNA:nonsense mutations, missense mutations, splice-site mutation: :multiple DNA:missense mutation DNA:SNPs,Haplotype:: |
ClinVar OMIM CTD RGD |
PMID:646435 PMID:8072530 PMID:9536098 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:16338962 PMID:16470555 PMID:16601698 PMID:16619239 PMID:17018561 PMID:17076561 PMID:17576681 PMID:17599974 PMID:17947292 PMID:18235085 PMID:18252712 PMID:18268093 PMID:18557729 PMID:19190809 PMID:19259132 PMID:19297022 PMID:19454698 PMID:19633317 PMID:20016463 PMID:20059470 PMID:20203157 PMID:20301541 PMID:20513133 PMID:21317894 PMID:21415311 PMID:21909106 PMID:22019782 PMID:22171659 PMID:22223606 PMID:22389686 PMID:22403278 PMID:22410797 PMID:22456601 PMID:23307876 PMID:23431077 PMID:23852337 PMID:24036949 PMID:24498017 PMID:24847005 PMID:24906858 PMID:25006455 PMID:25037630 PMID:25741868 PMID:25814826 PMID:25880396 PMID:26501415 PMID:26559391 PMID:26826462 PMID:27572114 PMID:27718086 PMID:28492532 PMID:28941939 PMID:29410599 PMID:29500241 PMID:29686068 PMID:29888403 PMID:30295827 PMID:30560448 PMID:31447099 PMID:32185379 PMID:33519811 PMID:34189567 PMID:17517971 PMID:20513133 PMID:9811382 PMID:10577907 PMID:23243267 PMID:17517971 PMID:17517971 More...
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RGD:7364995, RGD:11040768, RGD:11041172, RGD:1599886, RGD:11041162, RGD:7364995, RGD:7364995 |
NCBI chr13:51,512,376...51,613,829
Ensembl chr13:51,511,828...51,613,838
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Cfhr1 |
complement factor H-related 1 |
susceptibility |
ISO |
DNA:deletion ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1 CTD Direct Evidence: marker/mechanism |
ClinVar OMIM CTD RGD |
PMID:16998489 PMID:17367211 PMID:18006700 PMID:20843825 PMID:25741868 PMID:26284228 PMID:23243267 More...
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RGD:11041162 |
NCBI chr13:51,395,583...51,410,571
Ensembl chr13:51,369,211...51,410,592
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Cfhr4 |
complement factor H-related 4 |
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ISO |
ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr13:51,422,592...51,491,476
Ensembl chr13:51,422,592...51,491,502
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Cfi |
complement factor I |
susceptibility |
ISO |
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 6 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome CTD Direct Evidence: marker/mechanism |
ClinVar OMIM CTD RGD |
PMID:849647 PMID:8613545 PMID:9536098 PMID:15173250 PMID:15917334 PMID:16199547 PMID:16621965 PMID:17084897 PMID:17576681 PMID:17597211 PMID:18374984 PMID:18557729 PMID:18825487 PMID:19065647 PMID:19861685 PMID:19877009 PMID:20016463 PMID:20106822 PMID:20203157 PMID:20301541 PMID:20513133 PMID:20595690 PMID:22710145 PMID:23307876 PMID:23314101 PMID:23421077 PMID:23431077 PMID:23685748 PMID:23787556 PMID:24033266 PMID:24034049 PMID:24036952 PMID:24161037 PMID:25037630 PMID:25135378 PMID:25352734 PMID:25741868 PMID:25741909 PMID:25758434 PMID:25788521 PMID:26691988 PMID:26767664 PMID:26826462 PMID:27268256 PMID:28282489 PMID:28455885 PMID:28492532 PMID:28750931 PMID:29292855 PMID:29392637 PMID:29410599 PMID:29500241 PMID:29566171 PMID:29888403 PMID:29940891 PMID:30982675 PMID:31049720 PMID:31231365 PMID:31249236 PMID:31440263 PMID:31517156 PMID:31900968 PMID:32098865 PMID:32510551 PMID:34153144 PMID:34169201 PMID:15173250 More...
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RGD:6906889 |
NCBI chr 2:218,389,079...218,430,565
Ensembl chr 2:218,387,990...218,430,561
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Col4a3 |
collagen type IV alpha 3 chain |
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ISO |
ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome |
ClinVar |
PMID:11134255 PMID:12028435 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 More...
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NCBI chr 9:83,875,958...84,004,955
Ensembl chr 9:83,875,561...84,001,895
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Col4a4 |
collagen type IV alpha 4 chain |
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ISO |
ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome |
ClinVar |
PMID:9792860 PMID:11134255 PMID:11685592 PMID:11961012 PMID:12028435 PMID:12631110 PMID:14871398 PMID:17216251 PMID:17396119 PMID:19129241 PMID:20029656 PMID:24033266 PMID:25741868 PMID:26467025 PMID:26809805 PMID:26934356 PMID:27884173 PMID:28059119 PMID:28492532 More...
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NCBI chr 9:83,833,173...83,875,436
Ensembl chr 9:83,755,515...83,875,876
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Col4a5 |
collagen type IV alpha 5 chain |
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ISO |
ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome |
ClinVar |
PMID:7599631 PMID:7695699 PMID:8218237 PMID:8651296 PMID:8940267 PMID:9848783 PMID:11462238 PMID:11572889 PMID:12028435 PMID:14514738 PMID:17396119 PMID:19344236 PMID:19965530 PMID:23144074 PMID:23720012 PMID:24033266 PMID:24046192 PMID:25741868 PMID:26467025 PMID:27627812 PMID:28492532 PMID:30577881 PMID:30773290 More...
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NCBI chr X:105,118,762...105,322,699
Ensembl chr X:105,118,820...105,322,692
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Dgke |
diacylglycerol kinase epsilon |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1 | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 7 |
CTD ClinVar |
PMID:23274426 PMID:23542698 PMID:24511134 PMID:24747643 PMID:25135762 PMID:25741868 PMID:25854283 PMID:28492532 PMID:28496993 PMID:29590070 More...
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NCBI chr10:73,852,679...73,877,334
Ensembl chr10:73,855,583...73,877,100
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Lamb2 |
laminin subunit beta 2 |
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ISO |
ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 8:109,178,367...109,190,552
Ensembl chr 8:109,178,409...109,190,549
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Mmachc |
metabolism of cobalamin associated C |
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ISO |
ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome |
ClinVar |
PMID:16311595 PMID:16714133 PMID:17768669 PMID:17853453 PMID:18164228 PMID:19370762 PMID:19760748 PMID:20549364 PMID:20610126 PMID:20631720 PMID:23757202 PMID:23837176 PMID:24033266 PMID:24126030 PMID:24599607 PMID:25687216 PMID:25741868 PMID:25894566 PMID:26467025 PMID:28492532 PMID:29396438 PMID:31279840 More...
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NCBI chr 5:130,166,056...130,172,735
Ensembl chr 5:130,166,451...130,172,601
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Myh9 |
myosin, heavy chain 9 |
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ISO |
ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome |
ClinVar |
PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr 7:109,343,718...109,424,457
Ensembl chr 7:109,343,706...109,424,457
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Nlrp3 |
NLR family, pyrin domain containing 3 |
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ISO |
ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr10:44,326,770...44,353,814
Ensembl chr10:44,328,566...44,352,811
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Nphp3 |
nephrocystin 3 |
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ISO |
ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome |
ClinVar |
PMID:25741868 PMID:26184788 PMID:28492532 |
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NCBI chr 8:104,621,908...104,662,383
Ensembl chr 8:104,621,864...104,662,383
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Nphp4 |
nephrocystin 4 |
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ISO |
ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 5:162,986,157...163,073,708
Ensembl chr 5:162,988,370...163,073,706
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Pla2r1 |
phospholipase A2 receptor 1 |
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ISO |
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr 3:44,883,943...45,013,793
Ensembl chr 3:44,883,943...45,013,660
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Plg |
plasminogen |
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ISO |
ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 1:48,325,186...48,367,643
Ensembl chr 1:48,325,185...48,367,786
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G |
Smarcal1 |
Swi/SNF related matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 |
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ISO |
ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome |
ClinVar |
PMID:28492532 PMID:28844315 |
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NCBI chr 9:74,239,718...74,286,156
Ensembl chr 9:74,240,241...74,286,146
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G |
Thbd |
thrombomodulin |
susceptibility severity no_association |
ISO |
DNA:missense mutations:CDS:multiple ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 6 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 6 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 6 | ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome CTD Direct Evidence: marker/mechanism DNA:SNPs:5' utr, 3' utr:multiple |
ClinVar OMIM CTD RGD |
PMID:7811989 PMID:9157575 PMID:9198186 PMID:9236408 PMID:10460600 PMID:11245641 PMID:11986219 PMID:12139752 PMID:15574195 PMID:17677000 PMID:19625716 PMID:23314101 PMID:23332921 PMID:24933457 PMID:25135378 PMID:25741868 PMID:28492532 PMID:28939980 PMID:31064749 PMID:31118930 PMID:34355501 PMID:19625716 PMID:20595690 PMID:19625716 More...
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RGD:11038691, RGD:11038684, RGD:11038691 |
NCBI chr 3:135,863,366...135,867,018
Ensembl chr 3:135,862,835...135,867,193
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G |
Tmem67 |
transmembrane protein 67 |
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ISO |
ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 5:25,536,458...25,589,378
Ensembl chr 5:25,536,458...25,589,334
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G |
Trpc6 |
transient receptor potential cation channel, subfamily C, member 6 |
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ISO |
ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome |
ClinVar |
PMID:19380626 PMID:25741868 |
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NCBI chr 8:5,759,387...5,864,000
Ensembl chr 8:5,758,935...5,828,092
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G |
Wt1 |
WT1 transcription factor |
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ISO |
ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 3:91,566,540...91,613,653
Ensembl chr 3:91,567,001...91,613,643
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G |
Adamts13 |
ADAM metallopeptidase with thrombospondin type 1 motif, 13 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19260037 |
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NCBI chr 3:10,299,264...10,338,464
Ensembl chr 3:10,300,028...10,346,687
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G |
Alb |
albumin |
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ISO |
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RGD |
PMID:6683982 |
RGD:11036083 |
NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836
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G |
Cd40 |
CD40 molecule |
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ISO |
protein:increased expression:peripheral blood, B lymphocyte (human) |
RGD |
PMID:17654056 |
RGD:11344977 |
NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
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G |
Cd40lg |
CD40 ligand |
treatment |
ISO |
protein:decreased expression:serum (mouse) protein:increased expression:peripheral blood, T lymphocyte (human) |
RGD |
PMID:18341638 PMID:22537155 PMID:17654056 PMID:16188945 |
RGD:11352237, RGD:11352267, RGD:11344977, RGD:11344980 |
NCBI chr X:135,127,119...135,138,302
Ensembl chr X:135,126,969...135,138,306
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G |
Cd86 |
CD86 molecule |
treatment |
ISO |
protein:increased expression:peripheral blood mononuclear cell (human) |
RGD |
PMID:20581660 PMID:19379594 |
RGD:11520785, RGD:11354966 |
NCBI chr11:64,142,193...64,200,816
Ensembl chr11:64,163,828...64,200,818
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G |
Dnmt3a |
DNA methyltransferase 3 alpha |
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ISO |
mRNA:decreased expression:mononuclear cell |
RGD |
PMID:18683034 |
RGD:9588662 |
NCBI chr 6:26,791,517...26,902,161
Ensembl chr 6:26,822,609...26,896,687
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G |
Dnmt3b |
DNA methyltransferase 3 beta |
susceptibility |
ISO |
DNA:SNP:promoter: -579G>T(human) mRNA:decreased expression:mononuclear cell |
RGD |
PMID:23000068 PMID:18683034 |
RGD:9589094, RGD:9588662 |
NCBI chr 3:142,130,592...142,169,124
Ensembl chr 3:142,130,592...142,169,124
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G |
Fas |
Fas cell surface death receptor |
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ISO |
protein:increased expression:serum: |
RGD |
PMID:10776692 |
RGD:11049162 |
NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
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G |
Fcgr2a |
Fc gamma receptor 2A |
no_association treatment susceptibility |
ISO |
DNA:SNP:cds:p.R131H (human) |
RGD |
PMID:23249566 PMID:21131591 PMID:20699442 PMID:22123287 |
RGD:11040990, RGD:11040933, RGD:11040883, RGD:11040989 |
NCBI chr13:83,280,782...83,297,535
Ensembl chr13:83,280,784...83,295,967
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G |
Fcgr2b |
Fc gamma receptor 2B |
treatment disease_progression |
ISO |
DNA:SNP: :p.I232T (human) |
RGD |
PMID:21045192 PMID:21131591 PMID:22257295 PMID:19549396 PMID:15566359 |
RGD:11344955, RGD:11040933, RGD:11344931, RGD:11344927, RGD:11344928 |
NCBI chr13:83,191,253...83,207,776
Ensembl chr13:83,193,163...83,207,778
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G |
Fcgr3a |
Fc gamma receptor 3A |
treatment susceptibility |
ISO |
DNA:SNP:cds:p.V158F(human) DNA:SNP:exon:p.F158V (rs396991) (human) |
RGD |
PMID:11380443 PMID:15479722 PMID:23484707 PMID:22123287 |
RGD:11040776, RGD:11344926, RGD:11352255, RGD:11040989 |
NCBI chr13:83,249,905...83,259,921
Ensembl chr13:83,249,872...83,259,921
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G |
Gp1ba |
glycoprotein Ib platelet subunit alpha |
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ISO |
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RGD |
PMID:16861348 |
RGD:10450841 |
NCBI chr10:55,352,938...55,355,804
Ensembl chr10:55,352,899...55,356,774
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G |
Il10 |
interleukin 10 |
disease_progression |
ISO |
DNA:SNP:promoter:-627C>A (human) DNA:SNPs, haplotypes:promoter:-1082A>G, -819C>T, -592C>A (human) |
RGD |
PMID:25051072 PMID:22677268 |
RGD:11041894, RGD:11046267 |
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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G |
Il18 |
interleukin 18 |
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ISO |
protein:increased expression:plasma: |
RGD |
PMID:24801815 |
RGD:11073600 |
NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
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G |
Il1a |
interleukin 1 alpha |
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ISO |
DNA:SNP:promoter:-899C>T (human) |
RGD |
PMID:21591983 |
RGD:11051966 |
NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
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G |
Il1rn |
interleukin 1 receptor antagonist |
susceptibility |
ISO |
DNA:repeats:: |
RGD |
PMID:20626741 |
RGD:11528541 |
NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
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G |
Il2 |
interleukin 2 |
susceptibility |
ISO |
DNA:polymorphism::-330T>G(human) |
RGD |
PMID:20626741 |
RGD:11528541 |
NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
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G |
Il4 |
interleukin 4 |
disease_progression |
ISO |
DNA:repeat:intron |
RGD |
PMID:25051072 |
RGD:11041894 |
NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
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G |
Itgb3 |
integrin subunit beta 3 |
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ISO |
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RGD |
PMID:10936026 PMID:24258817 |
RGD:10755473, RGD:10755475 |
NCBI chr10:89,509,917...89,564,679
Ensembl chr10:89,509,989...89,564,679
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G |
Mir130a |
microRNA 130a |
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ISO |
RNA:decreased expression:PBMC |
RGD |
PMID:24801815 |
RGD:11073600 |
NCBI chr 3:69,822,542...69,822,629
Ensembl chr 3:69,822,542...69,822,629
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G |
Mir3581 |
microRNA 3581 |
treatment |
ISO |
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RGD |
PMID:23360331 |
RGD:10755694 |
NCBI chr 6:128,757,779...128,757,858
Ensembl chr 6:128,757,779...128,757,858
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G |
Mir409 |
microRNA 409 |
treatment |
ISO |
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RGD |
PMID:23360331 |
RGD:10755694 |
NCBI chr 6:128,757,780...128,757,856
Ensembl chr 6:128,757,779...128,757,858
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G |
Plat |
plasminogen activator, tissue type |
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ISO |
protein:increased expression:plasma (human) |
RGD |
PMID:2129164 |
RGD:11541072 |
NCBI chr16:69,240,582...69,265,177
Ensembl chr16:69,240,585...69,268,223
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G |
Ptpn22 |
protein tyrosine phosphatase, non-receptor type 22 |
no_association |
ISO |
DNA:snp:cds:c.1858C>T (rs2476601) (human) DNA: snp: cds: C1858T |
RGD |
PMID:27309885 PMID:21597364 |
RGD:11535019, RGD:6484673 |
NCBI chr 2:191,366,761...191,414,782
Ensembl chr 2:191,366,808...191,414,779
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G |
RT1-Bb |
RT1 class II, locus Bb |
treatment |
ISO |
DNA:polymorphisms:cds:HLA-DQB1*0401 (human) |
RGD |
PMID:10435723 |
RGD:11041758 |
NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
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G |
RT1-Db1 |
RT1 class II, locus Db1 |
treatment |
ISO |
DNA:polymorphisms:cds:HLA-DRB1*0901, HLA-DRB1*0410 (human) |
RGD |
PMID:10435723 |
RGD:11041758 |
NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
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G |
Socs1 |
suppressor of cytokine signaling 1 |
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ISO |
ClinVar Annotator: match by term: Autoimmune thrombocytopenic purpura | ClinVar Annotator: match by term: Idiopathic thrombocytopenic purpura |
ClinVar |
PMID:32853638 PMID:33087723 |
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NCBI chr10:4,882,651...4,884,342
Ensembl chr10:4,882,560...4,884,383
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G |
Tgfb1 |
transforming growth factor, beta 1 |
disease_progression |
ISO |
mRNA:increased expression: : protein:decreased expression:plasma: |
RGD |
PMID:11886393 PMID:24763013 PMID:24801815 |
RGD:11073598, RGD:11073603, RGD:11073600 |
NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
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G |
Tubb1 |
tubulin, beta 1 class VI |
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ISO |
ClinVar Annotator: match by term: Macrothrombocytopenia, isolated, 1, autosomal dominant |
OMIM ClinVar |
PMID:18849486 PMID:24344610 PMID:24777453 PMID:25741868 PMID:27346686 PMID:27479822 PMID:28054583 PMID:28492532 PMID:28983057 PMID:30446499 PMID:31064749 PMID:31249973 PMID:31565851 PMID:32757236 PMID:32892537 PMID:33400601 PMID:34355501 PMID:34516618 More...
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NCBI chr 3:163,247,990...163,257,460
Ensembl chr 3:163,247,967...163,256,063
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G |
Myh9 |
myosin, heavy chain 9 |
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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 nonsyndromic sensorineural 17 | ClinVar Annotator: match by term: Late-onset progressive hereditary hearing impairment due to cochleosaccular degeneration |
OMIM ClinVar |
PMID:1449176 PMID:8280620 PMID:9390828 PMID:10973259 PMID:10973260 PMID:11023810 PMID:11159552 PMID:11590545 PMID:11752022 PMID:11776386 PMID:12533692 PMID:12621333 PMID:12649151 PMID:12792306 PMID:15339844 PMID:16098078 PMID:16162639 PMID:16818291 PMID:16969870 PMID:17146397 PMID:17655694 PMID:18059020 PMID:18330899 PMID:18676005 PMID:19557653 PMID:20002731 PMID:20301740 PMID:20416459 PMID:20588287 PMID:21542825 PMID:22123909 PMID:22477015 PMID:22627578 PMID:22995991 PMID:23144074 PMID:23207509 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:26056797 PMID:26226608 PMID:26346198 PMID:26467025 PMID:26969326 PMID:27068579 PMID:28059092 PMID:28492532 PMID:29090586 PMID:29532554 PMID:29782633 PMID:30311386 PMID:30471777 PMID:30720677 PMID:30916803 PMID:31064749 PMID:32100410 PMID:32545517 PMID:32604935 PMID:33532864 PMID:34355501 More...
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NCBI chr 7:109,343,718...109,424,457
Ensembl chr 7:109,343,706...109,424,457
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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: :p.L129P (human) DNA:missense mutation: :p.N126D (c.376A>G) (human) DNA:missense mutation: :p.V262G (c.785T>G) (human) DNA:missense mutation, deletion: :p.L129P, 4630_4631del (human) |
ClinVar OMIM RGD |
PMID:7579348 PMID:7855797 PMID:8950770 PMID:9233564 PMID:9326229 PMID:9326230 PMID:9639514 PMID:10089893 PMID:10996832 PMID:11054083 PMID:18065693 PMID:25370924 PMID:25741868 PMID:28492532 PMID:28748566 PMID:28983057 PMID:29232918 PMID:30349881 PMID:32757236 PMID:34355501 PMID:22044935 PMID:11776304 PMID:19404517 PMID:10996832 PMID:21173099 PMID:23995613 PMID:10089893 More...
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RGD:10450833, RGD:10450843, RGD:10450834, RGD:10450809, RGD:10450798, RGD:10450796, RGD:10450819 |
NCBI chr10:55,352,938...55,355,804
Ensembl chr10:55,352,899...55,356,774
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G |
Gp1bb |
glycoprotein Ib platelet subunit beta |
severity |
ISO |
DNA:mutations:cds:p.Y88C,A108P(human) ClinVar Annotator: match by term: BLEEDING DISORDER, PLATELET-TYPE, 1 | ClinVar Annotator: match by term: Bernard Soulier syndrome DNA:missense mutation:exon:c.281A>G(p.D94G)(human) DNA:deletion:cds: |
ClinVar OMIM RGD |
PMID:10887115 PMID:17109744 PMID:25741868 PMID:28492532 PMID:31064749 PMID:32581362 PMID:34355501 PMID:9116284 PMID:17095718 PMID:28131619 PMID:12945881 More...
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RGD:11040528, RGD:11040529, RGD:13464128, RGD:11040530 |
NCBI chr11:82,378,216...82,379,393
Ensembl chr11:82,378,199...82,379,392
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G |
Gp9 |
glycoprotein IX (platelet) |
severity |
ISO |
DNA:missense mutation:cds:c.182A>G(p.N61S)(human) ClinVar Annotator: match by term: BLEEDING DISORDER, PLATELET-TYPE, 1 | ClinVar Annotator: match by term: Bernard Soulier syndrome | ClinVar Annotator: match by term: Von Willebrand factor receptor deficiency DNA:mutation:cds:p.C73Y(human) |
ClinVar OMIM RGD |
PMID:8049428 PMID:8481514 PMID:9163595 PMID:9432024 PMID:11167791 PMID:14510954 PMID:21173099 PMID:21699652 PMID:23402648 PMID:25370924 PMID:25539746 PMID:25741868 PMID:28131619 PMID:28395735 PMID:28492532 PMID:28561420 PMID:28765788 PMID:29636940 PMID:31064749 PMID:32581362 PMID:34355501 PMID:28131619 PMID:8972003 More...
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RGD:13464128, RGD:11040531 |
NCBI chr 4:120,235,539...120,236,874
Ensembl chr 4:120,235,421...120,237,110
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G |
Vwf |
von Willebrand factor |
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ISO |
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RGD |
PMID:14717981 |
RGD:1580643 |
NCBI chr 4:158,360,152...158,491,539
Ensembl chr 4:158,360,152...158,491,539
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G |
Gp1ba |
glycoprotein Ib platelet subunit alpha |
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ISO |
ClinVar Annotator: match by term: Bernard-Soulier syndrome, type A2, autosomal dominant |
OMIM ClinVar |
PMID:1694864 PMID:1730088 PMID:7690774 PMID:7855797 PMID:9326229 PMID:9326230 PMID:10089893 PMID:10235425 PMID:11054083 PMID:11222377 PMID:18065693 PMID:19067792 PMID:21933849 PMID:25370924 PMID:25741868 PMID:28492532 PMID:28983057 PMID:29082515 PMID:30349881 PMID:30908598 PMID:31064749 PMID:32757236 PMID:34355501 More...
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NCBI chr10:55,352,938...55,355,804
Ensembl chr10:55,352,899...55,356,774
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G |
Gp1ba |
glycoprotein Ib platelet subunit alpha |
|
ISO |
DNA:missense mutation: :p.A156V (515C>T) (human) DNA:missense mutation: :p.N41H (169A>C) (human) |
RGD |
PMID:11222377 PMID:18815197 |
RGD:10450832, RGD:10450842 |
NCBI chr10:55,352,938...55,355,804
Ensembl chr10:55,352,899...55,356,774
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G |
Gp1ba |
glycoprotein Ib platelet subunit alpha |
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ISO |
ClinVar Annotator: match by term: Bernard-Soulier syndrome, type A1 |
ClinVar |
PMID:1694864 PMID:1901273 PMID:2308962 PMID:7690774 PMID:7855797 PMID:9233564 PMID:9639514 PMID:10235425 PMID:11222377 PMID:19067792 PMID:21933849 PMID:25741868 PMID:28492532 PMID:28983057 PMID:34355501 More...
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NCBI chr10:55,352,938...55,355,804
Ensembl chr10:55,352,899...55,356,774
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G |
Gp1bb |
glycoprotein Ib platelet subunit beta |
|
ISO |
ClinVar Annotator: match by term: Bernard-Soulier syndrome, type B | ClinVar Annotator: match by term: Macrothrombocytopenia, familial, Bernard-Soulier type |
ClinVar |
PMID:7633430 PMID:8703016 PMID:9116284 PMID:10887115 PMID:18414213 PMID:25741868 PMID:31064749 PMID:32581362 PMID:34355501 More...
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NCBI chr11:82,378,216...82,379,393
Ensembl chr11:82,378,199...82,379,392
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G |
Gp9 |
glycoprotein IX (platelet) |
|
ISO |
DNA:missense mutations:cds:p.D21G, p.N45S (human) ClinVar Annotator: match by term: Bernard-Soulier syndrome type C |
ClinVar RGD |
PMID:8049428 PMID:8481514 PMID:9163595 PMID:9432024 PMID:9886312 PMID:11167791 PMID:12100158 PMID:13442197 PMID:14510954 PMID:21173099 PMID:21699652 PMID:23402648 PMID:25370924 PMID:25539746 PMID:25741868 PMID:28131619 PMID:28395735 PMID:28492532 PMID:28765788 PMID:29636940 PMID:31064749 PMID:32581362 PMID:34355501 PMID:8481514 More...
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RGD:1599275 |
NCBI chr 4:120,235,539...120,236,874
Ensembl chr 4:120,235,421...120,237,110
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G |
Kif15 |
kinesin family member 15 |
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ISO |
ClinVar Annotator: match by term: Braddock-Carey syndrome 2 |
OMIM ClinVar |
PMID:28150392 |
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NCBI chr 8:122,601,888...122,672,750
Ensembl chr 8:122,601,897...122,672,750
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G |
Mpl |
MPL proto-oncogene, thrombopoietin receptor |
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ISO |
ClinVar Annotator: match by term: Congenital amegakaryocytic thrombocytopenia |
OMIM ClinVar |
PMID:971406 PMID:8073287 PMID:9536098 PMID:10077649 PMID:10971406 PMID:11071383 PMID:11133753 PMID:11392330 PMID:11972523 PMID:15269348 PMID:15531462 PMID:16199547 PMID:16219544 PMID:16470591 PMID:16834459 PMID:16868251 PMID:17034029 PMID:17054430 PMID:17576681 PMID:17666371 PMID:18090929 PMID:18240171 PMID:18422784 PMID:18451306 PMID:18769448 PMID:19036112 PMID:19302922 PMID:19388932 PMID:20113333 PMID:20188141 PMID:21162090 PMID:21225925 PMID:21228398 PMID:21326037 PMID:21489838 PMID:21659346 PMID:22180433 PMID:22389068 PMID:23103231 PMID:23625800 PMID:23908116 PMID:24033266 PMID:24119002 PMID:24438083 PMID:24728327 PMID:25023898 PMID:25538044 PMID:25741868 PMID:26316487 PMID:26423830 PMID:26854587 PMID:27069254 PMID:27100302 PMID:27418648 PMID:27449473 PMID:28492532 PMID:28697167 PMID:28823277 PMID:28859041 PMID:29384262 PMID:29625052 PMID:30840646 PMID:30886832 PMID:31064749 PMID:31249973 PMID:31294534 PMID:32581362 PMID:32581363 PMID:32703794 PMID:34573280 PMID:35314707 PMID:35477182 More...
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NCBI chr 5:131,973,897...131,987,472
Ensembl chr 5:131,973,895...131,986,797
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Stt3b |
STT3 oligosaccharyltransferase complex catalytic subunit B |
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ISO |
ClinVar Annotator: match by term: CDG Ix | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1x |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:23842455 PMID:25741868 PMID:28492532 PMID:32253875 More...
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NCBI chr 8:114,928,678...114,994,027
Ensembl chr 8:114,917,824...114,994,028
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Gp1ba |
glycoprotein Ib platelet subunit alpha |
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ISO |
associated with Escherichia Coli Infections;DNA:SNP:exon: (rs121908064) (human) |
RGD |
PMID:29216383 |
RGD:42722620 |
NCBI chr10:55,352,938...55,355,804
Ensembl chr10:55,352,899...55,356,774
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Abcc2 |
ATP binding cassette subfamily C member 2 |
susceptibility |
ISO |
associated with Carcinoma, Non-Small-Cell Lung;DNA:SNP, haplotype:promoter,cds: 3972C>T, -24C>T(human) |
RGD |
PMID:20943283 |
RGD:11080978 |
NCBI chr 1:242,664,657...242,723,239
Ensembl chr 1:242,664,657...242,723,238
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Dpyd |
dihydropyrimidine dehydrogenase |
treatment |
ISO |
associated with Neoplasms;DNA:SNP:intron:IVS14+1G>A (human) associated with Stomach Neoplasms |
RGD |
PMID:19473056 PMID:23064955 |
RGD:11098817, RGD:11251740 |
NCBI chr 2:206,609,043...207,474,982
Ensembl chr 2:206,609,122...207,474,982
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Gstm1 |
glutathione S-transferase mu 1 |
susceptibility treatment |
ISO |
associated with Ovarian Neoplasms;DNA:deletion: : (human) associated with diffuse large B-cell lymphoma; DNA:deletion:cds: |
RGD |
PMID:19786980 PMID:20303013 |
RGD:5688741, RGD:10450835 |
NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
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Gstt1 |
glutathione S-transferase theta 1 |
treatment |
ISO |
associated with diffuse large B-cell lymphoma; DNA:deletion:cds: |
RGD |
PMID:20303013 |
RGD:10450835 |
NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585
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Il1a |
interleukin 1 alpha |
treatment |
ISO |
associated with Ovarian Neoplasms associated with Carcinoma, Non-Small-Cell Lung |
RGD |
PMID:8151314 PMID:7666093 |
RGD:11051964, RGD:11051963 |
NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
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Il1b |
interleukin 1 beta |
treatment |
ISO |
associated with Glioblastoma; |
RGD |
PMID:1331350 |
RGD:10450883 |
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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Pecam1 |
platelet and endothelial cell adhesion molecule 1 |
severity |
ISO |
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RGD |
PMID:17234740 PMID:10942385 |
RGD:11541120, RGD:11541093 |
NCBI chr10:91,590,521...91,652,279
Ensembl chr10:91,590,521...91,652,116
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Atg2b |
autophagy related 2B |
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ISO |
ClinVar Annotator: match by term: Thrombocythemia 1 |
ClinVar |
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NCBI chr 6:124,522,283...124,592,412
Ensembl chr 6:124,525,523...124,592,015
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Bdkrb1 |
bradykinin receptor B1 |
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ISO |
ClinVar Annotator: match by term: Thrombocythemia 1 |
ClinVar |
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NCBI chr 6:124,510,827...124,514,475
Ensembl chr 6:124,510,870...124,513,747
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Bdkrb2 |
bradykinin receptor B2 |
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ISO |
ClinVar Annotator: match by term: Thrombocythemia 1 |
ClinVar |
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NCBI chr 6:124,472,317...124,502,497
Ensembl chr 6:124,472,566...124,502,497
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Calr |
calreticulin |
severity |
ISO |
DNA:mutations:multiple (human) ClinVar Annotator: match by term: Thrombocythemia 1 |
ClinVar OMIM RGD |
PMID:24325356 PMID:24325359 PMID:25741868 PMID:25860380 PMID:24496303 |
RGD:11352747, RGD:11352751 |
NCBI chr19:23,308,525...23,313,420
Ensembl chr19:23,308,351...23,313,414
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Cd36 |
CD36 molecule |
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ISO |
protein:increased expression:platelet, cell surface |
RGD |
PMID:8555064 |
RGD:11041099 |
NCBI chr 4:17,317,343...17,410,084
Ensembl chr 4:17,354,466...17,513,903
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Cd40lg |
CD40 ligand |
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ISO |
protein:increased expression:serum (human) |
RGD |
PMID:22196954 |
RGD:11344979 |
NCBI chr X:135,127,119...135,138,302
Ensembl chr X:135,126,969...135,138,306
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Cux2 |
cut-like homeobox 2 |
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ISO |
ClinVar Annotator: match by term: Thrombocythemia 1 |
ClinVar |
PMID:20404132 PMID:25741868 |
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NCBI chr12:34,507,723...34,707,581
Ensembl chr12:34,520,959...34,705,806
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Elane |
elastase, neutrophil expressed |
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ISO |
protein:increased expression:plasma: |
RGD |
PMID:18768782 |
RGD:10450556 |
NCBI chr 7:9,817,251...9,819,174
Ensembl chr 7:9,817,252...9,819,100
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Fgf2 |
fibroblast growth factor 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15682418 |
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NCBI chr 2:120,236,328...120,290,673
Ensembl chr 2:120,236,328...120,291,221
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Gskip |
GSK3B interacting protein |
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ISO |
ClinVar Annotator: match by term: Thrombocythemia 1 |
ClinVar |
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NCBI chr 6:124,586,087...124,609,106
Ensembl chr 6:124,586,070...124,609,100
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Jak2 |
Janus kinase 2 |
severity |
ISO |
DNA:mutation: :p.V617F (human) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:15781101 PMID:15858187 PMID:16484586 PMID:16896569 PMID:19154659 PMID:19636672 PMID:20434300 PMID:21942426 PMID:23130336 More...
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RGD:10449178 |
NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189
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LOC100909954 |
uncharacterized LOC100909954 |
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ISO |
ClinVar Annotator: match by term: Thrombocythemia 1 |
ClinVar |
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NCBI chr 6:124,365,466...124,398,449
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Mpl |
MPL proto-oncogene, thrombopoietin receptor |
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ISO |
DNA:missense mutation:cds:pS505N (human) ClinVar Annotator: match by term: Essential thrombocythemia | ClinVar Annotator: match by term: Thrombocythemia 1 mRNA, protein:decreased expression:blood, platelet (human) |
ClinVar RGD |
PMID:8073287 PMID:11133753 PMID:14764528 PMID:15269348 PMID:15531462 PMID:16199547 PMID:16470591 PMID:17054430 PMID:17666371 PMID:18451306 PMID:18528423 PMID:19483125 PMID:19608689 PMID:20151976 PMID:21489838 PMID:23970983 PMID:24033266 PMID:24438083 PMID:24728327 PMID:25741868 PMID:27069254 PMID:28492532 PMID:28697167 PMID:31064749 PMID:14764528 PMID:11122159 More...
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RGD:10449014, RGD:10449016 |
NCBI chr 5:131,973,897...131,987,472
Ensembl chr 5:131,973,895...131,986,797
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Myb |
MYB proto-oncogene, transcription factor |
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ISS |
OMIM:187950 | OMIM:300331 | OMIM:601977 | OMIM:614521 |
MouseDO |
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NCBI chr 1:15,939,771...15,973,367
Ensembl chr 1:15,939,761...15,973,057
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Pdgfa |
platelet derived growth factor subunit A |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15682418 |
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NCBI chr12:15,645,549...15,667,056
Ensembl chr12:15,645,541...15,666,497
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Pdgfb |
platelet derived growth factor subunit B |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15682418 |
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NCBI chr 7:111,539,444...111,557,984
Ensembl chr 7:111,540,345...111,557,984
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Sh2b3 |
SH2B adaptor protein 3 |
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ISO |
ClinVar Annotator: match by term: Idiopathic thrombocythemia | ClinVar Annotator: match by term: THROMBOCYTOSIS 1 | ClinVar Annotator: match by term: Thrombocythemia 1 |
OMIM ClinVar |
PMID:15705783 PMID:20404132 PMID:25741868 PMID:27651169 PMID:28484264 PMID:29590070 More...
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NCBI chr12:34,749,849...34,753,616
Ensembl chr12:34,731,911...34,753,616
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Tcl1a |
Tcl1 family Akt coactivator A |
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ISO |
ClinVar Annotator: match by term: Thrombocythemia 1 |
ClinVar |
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NCBI chr 6:124,125,032...124,131,025
Ensembl chr 6:124,125,032...124,131,025
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Tgfb1 |
transforming growth factor, beta 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15682418 |
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NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
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Thpo |
thrombopoietin |
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ISO |
ClinVar Annotator: match by term: Thrombocythemia 1 DNA:mutation:splice junction: |
OMIM ClinVar RGD |
PMID:7772529 PMID:9425899 PMID:9694695 PMID:10583217 PMID:19553636 PMID:22194398 PMID:25741868 PMID:28492532 PMID:28955303 PMID:32430933 PMID:9425899 More...
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RGD:1580083 |
Ensembl chr11:80,182,820...80,188,167
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Vcam1 |
vascular cell adhesion molecule 1 |
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ISO |
protein:increased expression:serum: |
RGD |
PMID:24434346 |
RGD:11354980 |
NCBI chr 2:204,038,120...204,057,852
Ensembl chr 2:204,038,114...204,057,958
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Vwf |
von Willebrand factor |
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ISO |
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RGD |
PMID:25876231 |
RGD:11073823 |
NCBI chr 4:158,360,152...158,491,539
Ensembl chr 4:158,360,152...158,491,539
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Bivm |
basic, immunoglobulin-like variable motif containing |
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ISO |
ClinVar Annotator: match by term: Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency |
ClinVar |
PMID:25414442 PMID:28492532 |
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NCBI chr 9:46,268,758...46,305,038
Ensembl chr 9:46,269,252...46,305,024
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Ccdc168 |
coiled-coil domain containing 168 |
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ISO |
ClinVar Annotator: match by term: Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency |
ClinVar |
PMID:25414442 PMID:28492532 |
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NCBI chr 9:46,198,234...46,236,325
Ensembl chr 9:46,198,635...46,235,936
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Ercc5 |
ERCC excision repair 5, endonuclease |
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ISO |
ClinVar Annotator: match by term: Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency |
ClinVar |
PMID:25414442 PMID:28492532 |
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NCBI chr 9:46,309,477...46,354,478
Ensembl chr 9:46,309,389...46,354,472
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Fgf14 |
fibroblast growth factor 14 |
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ISO |
ClinVar Annotator: match by term: Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency |
ClinVar |
PMID:25414442 PMID:28492532 |
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NCBI chr15:101,045,038...101,679,888
Ensembl chr15:101,045,036...101,679,900
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Mettl21c |
methyltransferase 21C, AARS1 lysine |
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ISO |
ClinVar Annotator: match by term: Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency |
ClinVar |
PMID:25414442 PMID:28492532 |
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NCBI chr 9:46,130,451...46,145,128
Ensembl chr 9:46,134,001...46,145,112
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Poglut2 |
protein O-glucosyltransferase 2 |
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ISO |
ClinVar Annotator: match by term: Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency |
ClinVar |
PMID:25414442 PMID:28492532 |
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NCBI chr 9:46,256,388...46,268,714
Ensembl chr 9:46,256,390...46,268,532
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Slc10a2 |
solute carrier family 10 member 2 |
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ISO |
ClinVar Annotator: match by term: Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency |
ClinVar |
PMID:25414442 PMID:28492532 |
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NCBI chr16:84,386,528...84,409,475
Ensembl chr16:84,374,862...84,409,475
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Tex30 |
testis expressed 30 |
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ISO |
ClinVar Annotator: match by term: Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency |
ClinVar |
PMID:25414442 PMID:28492532 |
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NCBI chr 9:46,242,748...46,252,273
Ensembl chr 9:46,242,748...46,252,249
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Tpp2 |
tripeptidyl peptidase 2 |
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ISO |
ClinVar Annotator: match by term: Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency |
ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:25414442 PMID:25640679 PMID:25741868 PMID:28492532 PMID:30533531 PMID:33583942 PMID:33586135 More...
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NCBI chr 9:46,046,712...46,128,157
Ensembl chr 9:46,046,632...46,128,157
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Cbr1 |
carbonyl reductase 1 |
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ISO |
ClinVar Annotator: match by term: Familial platelet disorder with associated myeloid malignancy |
ClinVar |
PMID:25741868 PMID:34355501 |
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NCBI chr11:32,860,618...32,862,981
Ensembl chr11:32,908,950...32,911,393 Ensembl chr11:32,908,950...32,911,393
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Cbr1l1 |
carbonyl reductase 1 like 1 |
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ISO |
ClinVar Annotator: match by term: Familial platelet disorder with associated myeloid malignancy |
ClinVar |
PMID:25741868 PMID:34355501 |
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NCBI chr11:32,876,563...32,884,234
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Clic6 |
chloride intracellular channel 6 |
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ISO |
ClinVar Annotator: match by term: Familial thrombocytopenia with propensity to acute myelogenous leukemia |
ClinVar |
PMID:18723428 PMID:24100448 PMID:28492532 |
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NCBI chr11:31,737,813...31,780,360
Ensembl chr11:31,737,813...31,780,061
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Kcne2 |
potassium voltage-gated channel subfamily E regulatory subunit 2 |
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ISO |
ClinVar Annotator: match by term: Familial platelet disorder with associated myeloid malignancy |
ClinVar |
PMID:18478040 PMID:18487507 PMID:19357396 PMID:19679353 PMID:21626672 PMID:28492532 More...
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NCBI chr11:31,517,176...31,530,026
Ensembl chr11:31,295,614...31,530,043
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Mir802 |
microRNA 802 |
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ISO |
ClinVar Annotator: match by term: Familial platelet disorder with associated myeloid malignancy |
ClinVar |
PMID:25741868 PMID:34355501 |
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NCBI chr11:32,626,525...32,626,620
Ensembl chr11:32,626,525...32,626,620
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Runx1 |
RUNX family transcription factor 1 |
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ISO |
ClinVar Annotator: match by term: Familial platelet disorder with associated myeloid malignancy | ClinVar Annotator: match by term: Familial thrombocytopenia with propensity to acute myelogenous leukemia | ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematologic cancer predisposition syndrome | ClinVar Annotator: match by term: Platelet disorder, Aspirin-like |
OMIM ClinVar |
PMID:1958483 PMID:9536098 PMID:9606182 PMID:9837750 PMID:10068652 PMID:10508512 PMID:10594034 PMID:10973259 PMID:11276260 PMID:11830488 PMID:12002768 PMID:12060124 PMID:12172547 PMID:12200707 PMID:12377125 PMID:12393679 PMID:12807882 PMID:12874780 PMID:14504086 PMID:15156185 PMID:15749889 PMID:16199547 PMID:17234761 PMID:17290219 PMID:17485549 PMID:17576681 PMID:17650443 PMID:18478040 PMID:18487507 PMID:18723428 PMID:19357396 PMID:19387465 PMID:19448675 PMID:19679353 PMID:19808697 PMID:19946261 PMID:20549580 PMID:20722699 PMID:20846103 PMID:20880108 PMID:20955399 PMID:21626672 PMID:21725049 PMID:21880633 PMID:22012064 PMID:22318203 PMID:22689681 PMID:22898599 PMID:23751892 PMID:23753029 PMID:23817177 PMID:23848403 PMID:24100448 PMID:24374719 PMID:24523240 PMID:24616160 PMID:24659740 PMID:24732596 PMID:24853048 PMID:25159113 PMID:25490895 PMID:25640679 PMID:25741868 PMID:25840971 PMID:26175287 PMID:26316320 PMID:26525156 PMID:26580448 PMID:26884589 PMID:26916619 PMID:27106701 PMID:27112265 PMID:27137476 PMID:27210295 PMID:27294619 PMID:27418648 PMID:27479822 PMID:27931139 PMID:28102861 PMID:28179279 PMID:28231333 PMID:28240786 PMID:28492532 PMID:28513614 PMID:28659335 PMID:28748566 PMID:28801348 PMID:28855357 PMID:28933735 PMID:28960434 PMID:29055018 PMID:29146883 PMID:29365323 PMID:29666006 PMID:30990344 PMID:31034769 PMID:31048839 PMID:31064749 PMID:31135094 PMID:31245275 PMID:31289210 PMID:31309983 PMID:31470354 PMID:31648317 PMID:31698193 PMID:31876204 PMID:31989091 PMID:32051554 PMID:32208489 PMID:32315381 PMID:32570879 PMID:32581362 PMID:32935436 PMID:33075818 PMID:33692461 PMID:34166225 PMID:34355501 More...
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NCBI chr11:31,839,880...32,074,427
Ensembl chr11:31,843,764...32,074,542
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Setd4 |
SET domain containing 4 |
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ISO |
ClinVar Annotator: match by term: Familial platelet disorder with associated myeloid malignancy |
ClinVar |
PMID:25741868 PMID:34355501 |
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NCBI chr11:32,829,509...32,859,162
Ensembl chr11:32,838,063...32,858,243
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Pla2g4a |
phospholipase A2 group IVA |
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ISO |
ClinVar Annotator: match by term: GASTROINTESTINAL ULCERATION, RECURRENT, WITH DYSFUNCTIONAL PLATELETS | ClinVar Annotator: match by term: PHOSPHOLIPASE A2, GROUP IVA, DEFICIENCY OF |
OMIM ClinVar |
PMID:18451993 PMID:23268370 PMID:25102815 PMID:25741868 PMID:28492532 |
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NCBI chr13:61,877,818...62,022,261
Ensembl chr13:61,877,813...62,022,266
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Myh9 |
myosin, heavy chain 9 |
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ISO |
ClinVar Annotator: match by term: Giant platelet syndrome with thrombocytopenia |
ClinVar |
PMID:1449176 PMID:8280620 PMID:9390828 PMID:10973259 PMID:10973260 PMID:11023810 PMID:11159552 PMID:11590545 PMID:11752022 PMID:11776386 PMID:12533692 PMID:12621333 PMID:12649151 PMID:12792306 PMID:15339844 PMID:16098078 PMID:16162639 PMID:16818291 PMID:16969870 PMID:17146397 PMID:17655694 PMID:18059020 PMID:18330899 PMID:18676005 PMID:20002731 PMID:20301740 PMID:20416459 PMID:20588287 PMID:21542825 PMID:22123909 PMID:22477015 PMID:22627578 PMID:22995991 PMID:23207509 PMID:23409987 PMID:23804846 PMID:24033266 PMID:24130771 PMID:24186861 PMID:24643058 PMID:24890873 PMID:25077172 PMID:25505834 PMID:25741868 PMID:25949529 PMID:26056797 PMID:26226608 PMID:26467025 PMID:28059092 PMID:28492532 PMID:29090586 PMID:29532554 PMID:29782633 PMID:30471777 PMID:30720677 PMID:30916803 PMID:31064749 PMID:32100410 PMID:32545517 PMID:32604935 PMID:33532864 PMID:34355501 More...
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NCBI chr 7:109,343,718...109,424,457
Ensembl chr 7:109,343,706...109,424,457
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Itga2b |
integrin subunit alpha 2b |
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ISO |
ClinVar Annotator: match by term: Glanzmann thrombasthenia 1 |
OMIM ClinVar |
PMID:1317725 PMID:1702098 PMID:1926040 PMID:2014236 PMID:7508443 PMID:7620188 PMID:7706461 PMID:8282784 PMID:8704171 PMID:8883261 PMID:9215749 PMID:9473221 PMID:9536098 PMID:9722314 PMID:9734640 PMID:9763559 PMID:9920835 PMID:10607701 PMID:11798398 PMID:12083483 PMID:12181054 PMID:12424194 PMID:15099289 PMID:16359514 PMID:16463284 PMID:17576681 PMID:19691478 PMID:20020534 PMID:21113249 PMID:21487445 PMID:21557682 PMID:21917754 PMID:22190468 PMID:22513797 PMID:24418945 PMID:25326637 PMID:25373348 PMID:25539746 PMID:25728920 PMID:25741868 PMID:27607598 PMID:27696190 PMID:28232155 PMID:28492532 PMID:28983057 PMID:29675921 PMID:30138987 PMID:31064749 PMID:32237906 PMID:34355501 More...
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NCBI chr10:87,408,532...87,426,055
Ensembl chr10:87,408,536...87,426,168
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Itgb3 |
integrin subunit beta 3 |
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ISO |
ClinVar Annotator: match by term: Glanzmann thrombasthenia 1 |
ClinVar |
PMID:1371279 PMID:1602006 PMID:9215749 PMID:9351872 PMID:11776310 PMID:15583747 PMID:25728920 PMID:25741868 PMID:28492532 PMID:30138987 PMID:32757236 More...
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NCBI chr10:89,509,917...89,564,679
Ensembl chr10:89,509,989...89,564,679
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Itgb3 |
integrin subunit beta 3 |
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ISO |
ClinVar Annotator: match by term: Glanzmann thrombasthenia 2 |
OMIM ClinVar |
PMID:1371279 PMID:1438206 PMID:1602006 PMID:2014236 PMID:2392682 PMID:2428841 PMID:8080992 PMID:8471765 PMID:8781422 PMID:9160670 PMID:9215749 PMID:9351872 PMID:9376589 PMID:9845537 PMID:11806996 PMID:15583747 PMID:16463284 PMID:20020534 PMID:21917754 PMID:25539746 PMID:25741868 PMID:28492532 PMID:28983057 PMID:30138987 PMID:30828542 PMID:32757236 PMID:34355501 More...
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NCBI chr10:89,509,917...89,564,679
Ensembl chr10:89,509,989...89,564,679
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Itga2 |
integrin subunit alpha 2 |
severity |
ISO |
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RGD |
PMID:14687991 |
RGD:1582297 |
NCBI chr 2:46,520,345...46,621,487
Ensembl chr 2:46,523,948...46,621,481
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Itga2b |
integrin subunit alpha 2b |
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ISO |
DNA:insertion/deletion:exon ClinVar Annotator: match by term: BLEEDING DISORDER, PLATELET-TYPE, 2 | ClinVar Annotator: match by term: Glanzmann thrombasthenia CTD Direct Evidence: marker/mechanism DNA:deletion:exon |
ClinVar CTD RGD |
PMID:1317725 PMID:1638023 PMID:1926040 PMID:2014236 PMID:7508443 PMID:7620188 PMID:7706461 PMID:8282784 PMID:8704171 PMID:8883261 PMID:9215749 PMID:9473221 PMID:9536098 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:14687991 PMID:15099289 PMID:15748238 PMID:15886807 PMID:16199547 PMID:16359514 PMID:16463284 PMID:16722529 PMID:16879215 PMID:17488698 PMID:17576681 PMID:18065693 PMID:18422845 PMID:18791937 PMID:19170775 PMID:19172520 PMID:19175981 PMID:19339519 PMID:19691478 PMID:19805198 PMID:20020534 PMID:20081061 PMID:20492470 PMID:21113249 PMID:21454453 PMID:21487445 PMID:21557682 PMID:21917754 PMID:22102273 PMID:22190468 PMID:22250950 PMID:22513797 PMID:22738334 PMID:23305224 PMID:24418945 PMID:25326637 PMID:25373348 PMID:25539746 PMID:25728920 PMID:25741868 PMID:25749862 PMID:25827233 PMID:25944497 PMID:26096001 PMID:27469266 PMID:27607598 PMID:27696190 PMID:28232155 PMID:28492532 PMID:28888044 PMID:28983057 PMID:29090484 PMID:29675921 PMID:29884513 PMID:30138987 PMID:30792900 PMID:31064749 PMID:31119735 PMID:32139434 PMID:32237906 PMID:32581362 PMID:33276370 PMID:34355501 PMID:7529063 PMID:8111043 More...
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RGD:10755476, RGD:10755480 |
NCBI chr10:87,408,532...87,426,055
Ensembl chr10:87,408,536...87,426,168
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Itgb3 |
integrin subunit beta 3 |
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ISO |
ClinVar Annotator: match by term: BLEEDING DISORDER, PLATELET-TYPE, 2 | ClinVar Annotator: match by term: Glanzmann thrombasthenia | ClinVar Annotator: match by term: Glanzmann thrombasthenia type A CTD Direct Evidence: marker/mechanism |
ClinVar CTD RGD |
PMID:1371279 PMID:1430225 PMID:1438206 PMID:1602006 PMID:2014236 PMID:2392682 PMID:2428841 PMID:7570918 PMID:7694683 PMID:8080992 PMID:8132570 PMID:8457479 PMID:8598867 PMID:8667943 PMID:8781422 PMID:8838346 PMID:9215749 PMID:9351872 PMID:9376589 PMID:9450787 PMID:9700201 PMID:9787162 PMID:9845537 PMID:10233432 PMID:10583927 PMID:10727448 PMID:10891446 PMID:11507099 PMID:11723016 PMID:11776310 PMID:11806996 PMID:12083483 PMID:12152649 PMID:12353082 PMID:14516468 PMID:14629479 PMID:14690453 PMID:15583747 PMID:15634267 PMID:16199547 PMID:16463284 PMID:16722529 PMID:16879215 PMID:17264806 PMID:18832906 PMID:19570064 PMID:19691478 PMID:19821948 PMID:20020534 PMID:20438394 PMID:20514620 PMID:20804530 PMID:21113249 PMID:21287507 PMID:21658138 PMID:21917754 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:28983057 PMID:30138987 PMID:30792900 PMID:30828542 PMID:31064749 PMID:31088191 PMID:31565851 PMID:32139434 PMID:32237906 PMID:32581362 PMID:32757236 PMID:34355501 PMID:1967954 More...
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RGD:10755474 |
NCBI chr10:89,509,917...89,564,679
Ensembl chr10:89,509,989...89,564,679
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Ccdc12 |
coiled-coil domain containing 12 |
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ISO |
ClinVar Annotator: match by term: Gray platelet syndrome |
ClinVar |
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NCBI chr 8:110,635,276...110,686,417
Ensembl chr 8:110,635,710...110,686,417
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Gfi1b |
growth factor independent 1B transcriptional repressor |
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ISO |
DNA:nonsense mutation:c.859C>T, p.Gln287X(human) |
RGD |
PMID:24325358 |
RGD:11040508 |
NCBI chr 3:11,940,232...11,952,989
Ensembl chr 3:11,940,233...11,952,942
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Nbeal2 |
neurobeachin-like 2 |
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ISO |
ClinVar Annotator: match by term: Gray platelet syndrome CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:21765411 PMID:21765412 PMID:21765413 PMID:25741868 PMID:28492532 PMID:31064749 PMID:32581362 PMID:32693407 More...
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NCBI chr 8:110,603,220...110,633,612
Ensembl chr 8:110,599,389...110,633,707
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Alb |
albumin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:6734075 |
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NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836
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Ccl2 |
C-C motif chemokine ligand 2 |
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IEP |
protein:increased expression:plasma (rat) |
RGD |
PMID:10201001 |
RGD:11528527 |
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
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Ccl3 |
C-C motif chemokine ligand 3 |
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ISO |
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RGD |
PMID:17220320 |
RGD:7241820 |
NCBI chr10:68,451,388...68,452,938
Ensembl chr10:68,451,388...68,452,938
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Cd36 |
CD36 molecule |
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ISO |
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RGD |
PMID:16197457 |
RGD:6893534 |
NCBI chr 4:17,317,343...17,410,084
Ensembl chr 4:17,354,466...17,513,903
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Cd46 |
CD46 molecule |
susceptibility |
ISO |
DNA:mutations:multiple (human) DNA:frameshift mutation:cds:p.N233X3 (human) DNA:deletion, missense mutation:cds:p.D237_S238del, p.S206P (human) |
RGD |
PMID:16189652 PMID:14615110 PMID:14566051 |
RGD:11531138, RGD:11352767, RGD:11352770 |
NCBI chr13:106,575,586...106,606,325
Ensembl chr13:106,574,858...106,660,445
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Cfh |
complement factor H |
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ISO ISS |
DNA:mutations, polymorphisms:promoter, exon:multiple OMIM:235400 | OMIM:612922 | OMIM:612923 | OMIM:612924 | OMIM:612925 | OMIM:612926 |
MouseDO RGD |
PMID:14583443 |
RGD:11041164 |
NCBI chr13:51,512,376...51,613,829
Ensembl chr13:51,511,828...51,613,838
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Dgke |
diacylglycerol kinase epsilon |
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ISO |
ClinVar Annotator: match by term: Hemolytic-uremic syndrome |
ClinVar |
PMID:25854283 |
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NCBI chr10:73,852,679...73,877,334
Ensembl chr10:73,855,583...73,877,100
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Epo |
erythropoietin |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:12053072 |
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NCBI chr12:19,204,258...19,207,948
Ensembl chr12:19,204,508...19,207,946
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F2 |
coagulation factor II |
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ISO |
associated with diarrhea;protein:increased expression:plasma (human) |
RGD |
PMID:9423793 |
RGD:40818428 |
NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486
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Fos |
Fos proto-oncogene, AP-1 transcription factor subunit |
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ISO |
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RGD |
PMID:15632024 |
RGD:7242276 |
NCBI chr 6:105,121,170...105,124,036
Ensembl chr 6:105,121,170...105,124,036
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Hp |
haptoglobin |
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ISO |
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RGD |
PMID:6218601 |
RGD:1626361 |
NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523
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Il1a |
interleukin 1 alpha |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15384034 |
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NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
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Il1b |
interleukin 1 beta |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15384034 |
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NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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Il1rl1 |
interleukin 1 receptor-like 1 |
severity |
ISO |
associated with Escherichia Coli Infections; |
RGD |
PMID:30467800 |
RGD:39458200 |
NCBI chr 9:42,661,694...42,727,266
Ensembl chr 9:42,697,192...42,727,256
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Il1rn |
interleukin 1 receptor antagonist |
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ISO |
protein:increased concentration:serum (human) |
RGD |
PMID:9802632 PMID:12373296 |
RGD:6909134, RGD:6909171 |
NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
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Il6 |
interleukin 6 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15384034 |
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NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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Mbl2 |
mannose binding lectin 2 |
treatment |
ISO |
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RGD |
PMID:27378476 |
RGD:11530050 |
NCBI chr 1:228,016,439...228,024,736
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Nqo1 |
NAD(P)H quinone dehydrogenase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12588957 |
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NCBI chr19:35,295,633...35,310,528
Ensembl chr19:35,295,573...35,310,557
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Pla2g7 |
phospholipase A2 group VII |
severity |
ISO |
associated with Escherichia coli Infections; DNA:transversion mutation: :994 G>T (human) |
RGD |
PMID:10873870 |
RGD:7257516 |
NCBI chr 9:17,362,214...17,404,476
Ensembl chr 9:17,362,225...17,404,476
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Plat |
plasminogen activator, tissue type |
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ISO |
associated with Escherichia coli Infections;protein:increased expression:plasma (human) |
RGD |
PMID:11777999 |
RGD:11541069 |
NCBI chr16:69,240,582...69,265,177
Ensembl chr16:69,240,585...69,268,223
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Thbd |
thrombomodulin |
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ISO |
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RGD |
PMID:22942429 |
RGD:11038690 |
NCBI chr 3:135,863,366...135,867,018
Ensembl chr 3:135,862,835...135,867,193
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Tnf |
tumor necrosis factor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15384034 |
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NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Fcgr2a |
Fc gamma receptor 2A |
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ISO |
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RGD |
PMID:8772238 |
RGD:11040889 |
NCBI chr13:83,280,782...83,297,535
Ensembl chr13:83,280,784...83,295,967
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Fcgr3a |
Fc gamma receptor 3A |
susceptibility |
ISO |
DNA:SNP:cds:p.V158F(human) |
RGD |
PMID:15191947 |
RGD:11040991 |
NCBI chr13:83,249,905...83,259,921
Ensembl chr13:83,249,872...83,259,921
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Il10 |
interleukin 10 |
no_association |
ISO |
DNA:SNPs:promoter:rs1800896 (-1082G/A), rs1800871 (-819C/T), rs1800872 (-592C/A) (human) DNA:repeats, haplotype:promoter |
RGD |
PMID:22239992 PMID:22239992 |
RGD:11049164, RGD:11049164 |
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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Ap3b1 |
adaptor related protein complex 3 subunit beta 1 |
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ISO |
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome DNA:duplication, deletions:introns, exons: (mouse) |
ClinVar RGD |
PMID:16507770 PMID:23403622 PMID:24033266 PMID:25741868 PMID:28492532 PMID:31898847 PMID:11861280 PMID:12125811 PMID:11056055 More...
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RGD:11087576, RGD:1578409, RGD:11087577 |
NCBI chr 2:25,600,069...25,800,937
Ensembl chr 2:25,600,040...25,800,935
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Ap3d1 |
adaptor related protein complex 3 subunit delta 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr 7:8,970,249...9,005,651
Ensembl chr 7:8,970,291...9,005,643
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Bloc1s3 |
biogenesis of lysosomal organelles complex-1, subunit 3 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hermansky-Pudlak syndrome |
CTD ClinVar |
PMID:25741868 PMID:31064749 |
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NCBI chr 1:79,155,914...79,158,326
Ensembl chr 1:79,155,693...79,158,505
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Bloc1s4 |
biogenesis of lysosomal organelles complex 1 subunit 4 |
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ISS |
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MouseDO |
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NCBI chr14:74,043,025...74,044,325
Ensembl chr14:74,043,015...74,044,531
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Bloc1s5 |
biogenesis of lysosomal organelles complex 1 subunit 5 |
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ISS ISO |
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome |
MouseDO ClinVar |
PMID:32565547 |
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NCBI chr17:26,171,965...26,197,276
Ensembl chr17:26,172,018...26,197,251
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G |
Bloc1s6 |
biogenesis of lysosomal organelles complex 1 subunit 6 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hermansky-Pudlak syndrome |
CTD ClinVar |
PMID:10610180 PMID:21665000 PMID:22461475 PMID:26575419 PMID:28492532 PMID:33543539 More...
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NCBI chr 3:109,816,397...109,826,528
Ensembl chr 3:109,816,366...109,828,308
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Ccl5 |
C-C motif chemokine ligand 5 |
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ISO |
protein:increased secretion:lung, alveolar macrophage (human) |
RGD |
PMID:19729668 |
RGD:4891476 |
NCBI chr10:68,322,826...68,327,365
Ensembl chr10:68,322,829...68,327,377
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G |
Cp |
ceruloplasmin |
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ISO |
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome |
ClinVar |
PMID:11590544 PMID:16199547 PMID:18414213 PMID:24033266 PMID:25741868 PMID:28492532 PMID:30990103 PMID:31064749 PMID:31898847 More...
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NCBI chr 2:102,439,433...102,498,075
Ensembl chr 2:102,439,624...102,498,075
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Cxcr4 |
C-X-C motif chemokine receptor 4 |
disease_progression |
ISO |
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RGD |
PMID:25347450 |
RGD:11352293 |
NCBI chr13:40,077,976...40,081,883
Ensembl chr13:40,077,976...40,081,883
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G |
Dtnbp1 |
dystrobrevin binding protein 1 |
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ISO |
DNA:deletion:intron, exon ClinVar Annotator: match by term: Hermansky-Pudlak syndrome CTD Direct Evidence: marker/mechanism |
ClinVar CTD RGD |
PMID:24033266 PMID:28492532 PMID:12923531 |
RGD:11251756 |
NCBI chr17:19,685,218...19,776,668
Ensembl chr17:19,685,215...19,776,661
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Hps1 |
HPS1, biogenesis of lysosomal organelles complex 3 subunit 1 |
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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:16199547 PMID:17365864 PMID:19334085 PMID:19398212 PMID:19665357 PMID:20301464 PMID:20514622 PMID:20662851 PMID:21458243 PMID:23103514 PMID:24033266 PMID:25741868 PMID:26575419 PMID:26785811 PMID:26806224 PMID:27593200 PMID:28081892 PMID:28492532 PMID:29941477 PMID:30387913 PMID:30985222 PMID:31064749 PMID:31141302 PMID:31898847 PMID:32581362 More...
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NCBI chr 1:241,551,180...241,577,292
Ensembl chr 1:241,551,175...241,577,268
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Hps3 |
HPS3, biogenesis of lysosomal organelles complex 2 subunit 1 |
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ISO |
DNA:deletion: ClinVar Annotator: match by term: Hermansky-Pudlak syndrome CTD Direct Evidence: marker/mechanism |
ClinVar CTD RGD |
PMID:11590544 PMID:16199547 PMID:17933573 PMID:18414213 PMID:24033266 PMID:25525159 PMID:25741868 PMID:26575419 PMID:27593200 PMID:28492532 PMID:30387913 PMID:30990103 PMID:31064749 PMID:31141302 PMID:31898847 PMID:32581362 PMID:35886065 PMID:11455388 More...
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RGD:1599538 |
NCBI chr 2:102,484,574...102,527,580
Ensembl chr 2:102,484,574...102,526,047
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G |
Hps4 |
HPS4, biogenesis of lysosomal organelles complex 3 subunit 2 |
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ISO |
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome DNA:nonsense mutation:exon: c.541C>T(p.Q181X) (rs119471022) DNA:nonsense,frameshift,insertion mutations:cds: CTD Direct Evidence: marker/mechanism |
ClinVar CTD RGD |
PMID:12664304 PMID:24033266 PMID:25741868 PMID:26575419 PMID:28492532 PMID:31898847 PMID:12664304 PMID:23563589 PMID:11836498 More...
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RGD:1599546, RGD:11353873, RGD:11354897 |
NCBI chr12:44,264,037...44,294,791
Ensembl chr12:44,264,037...44,294,632
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Hps5 |
HPS5, biogenesis of lysosomal organelles complex 2 subunit 2 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hermansky-Pudlak syndrome DNA:mutations:multiple: |
CTD ClinVar RGD |
PMID:12548288 PMID:15296495 PMID:16199547 PMID:21833017 PMID:23607980 PMID:24698632 PMID:25741868 PMID:26785811 PMID:28492532 PMID:28640947 PMID:31064749 PMID:15296495 More...
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RGD:11072072 |
NCBI chr 1:97,281,626...97,320,945
Ensembl chr 1:97,247,598...97,321,019
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G |
Hps6 |
HPS6, biogenesis of lysosomal organelles complex 2 subunit 3 |
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ISO |
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome DNA:mutations:multiple: CTD Direct Evidence: marker/mechanism |
ClinVar CTD RGD |
PMID:12548288 PMID:17041891 PMID:19843503 PMID:24033266 PMID:25741868 PMID:26575419 PMID:27225848 PMID:28492532 PMID:31064749 PMID:35054407 PMID:12548288 PMID:19843503 More...
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RGD:632833, RGD:11073544 |
NCBI chr 1:244,853,256...244,855,865
Ensembl chr 1:244,853,194...244,855,883
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G |
Kxd1 |
KxDL motif containing 1 |
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ISS |
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MouseDO |
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NCBI chr16:18,895,343...18,916,266
Ensembl chr16:18,900,616...18,920,807
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G |
Rab38 |
RAB38, member RAS oncogene family |
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IAGP |
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RGD |
PMID:19897744 |
RGD:2324690 |
NCBI chr 1:142,182,566...142,262,923
Ensembl chr 1:142,182,556...142,262,924
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G |
Rab38ru |
Rab38, member of RAS oncogene family, ruby allele |
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IAGP |
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RGD |
PMID:19897744 |
RGD:2324690 |
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G |
Rabggta |
Rab geranylgeranyltransferase subunit alpha |
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ISS |
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MouseDO |
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NCBI chr15:29,206,328...29,213,398
Ensembl chr15:29,206,157...29,213,348
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G |
Slc7a11 |
solute carrier family 7 member 11 |
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ISS |
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MouseDO |
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NCBI chr 2:134,382,002...134,517,622
Ensembl chr 2:133,963,107...134,517,536
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G |
Vps33a |
VPS33A core subunit of CORVET and HOPS complexes |
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ISS |
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MouseDO |
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NCBI chr12:33,024,596...33,051,399
Ensembl chr12:33,024,650...33,051,393
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G |
Ap3d1 |
adaptor related protein complex 3 subunit delta 1 |
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ISS |
OMIM:203300 |
MouseDO |
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NCBI chr 7:8,970,249...9,005,651
Ensembl chr 7:8,970,291...9,005,643
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G |
Hps1 |
HPS1, biogenesis of lysosomal organelles complex 3 subunit 1 |
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ISO |
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 1 DNA:duplication:exon |
OMIM ClinVar RGD |
PMID:8274781 PMID:8896559 PMID:9345105 PMID:9497254 PMID:9536098 PMID:9562579 PMID:9705234 PMID:10971344 PMID:12442288 PMID:14510955 PMID:15952982 PMID:16185271 PMID:16199547 PMID:17365864 PMID:17576681 PMID:18326704 PMID:19334085 PMID:20301464 PMID:20514622 PMID:20662851 PMID:21458243 PMID:21833017 PMID:24033266 PMID:24583434 PMID:25741868 PMID:26785811 PMID:26806224 PMID:27593200 PMID:28081892 PMID:28492532 PMID:29941477 PMID:30634918 PMID:31064749 PMID:31141302 PMID:32581362 PMID:8896559 More...
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RGD:1625056 |
NCBI chr 1:241,551,180...241,577,292
Ensembl chr 1:241,551,175...241,577,268
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G |
Rab27a |
RAB27A, member RAS oncogene family |
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ISS |
OMIM:203300 |
MouseDO |
|
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NCBI chr 8:73,782,730...73,836,630
Ensembl chr 8:73,782,694...73,847,829
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G |
Ap3d1 |
adaptor related protein complex 3 subunit delta 1 |
|
ISO |
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 10 |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:25741868 PMID:26744459 PMID:28492532 |
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NCBI chr 7:8,970,249...9,005,651
Ensembl chr 7:8,970,291...9,005,643
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G |
Bloc1s5 |
biogenesis of lysosomal organelles complex 1 subunit 5 |
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ISO |
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 11 |
OMIM ClinVar |
PMID:32565547 |
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NCBI chr17:26,171,965...26,197,276
Ensembl chr17:26,172,018...26,197,251
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G |
Aggf1 |
angiogenic factor with G patch and FHA domains 1 |
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ISO |
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 |
ClinVar |
PMID:16507770 PMID:23403622 PMID:28492532 |
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NCBI chr 2:26,619,336...26,646,050
Ensembl chr 2:26,619,339...26,645,952
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G |
Ap3b1 |
adaptor related protein complex 3 subunit beta 1 |
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ISO |
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 |
OMIM ClinVar |
PMID:8042664 PMID:9536098 PMID:10024875 PMID:11809908 PMID:14566336 PMID:16199547 PMID:16507770 PMID:16537806 PMID:16551969 PMID:17576681 PMID:23265383 PMID:23403622 PMID:24033266 PMID:25741868 PMID:25980904 PMID:27781387 PMID:28492532 PMID:31898847 PMID:32935436 More...
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NCBI chr 2:25,600,069...25,800,937
Ensembl chr 2:25,600,040...25,800,935
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G |
Ap3d1 |
adaptor related protein complex 3 subunit delta 1 |
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ISS ISO |
OMIM:608233 ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 |
MouseDO ClinVar |
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NCBI chr 7:8,970,249...9,005,651
Ensembl chr 7:8,970,291...9,005,643
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G |
Arsb |
arylsulfatase B |
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ISO |
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 |
ClinVar |
PMID:16507770 PMID:23403622 PMID:28492532 |
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NCBI chr 2:25,002,210...25,162,675
Ensembl chr 2:25,002,346...25,162,671
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G |
Crhbp |
corticotropin releasing hormone binding protein |
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ISO |
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 |
ClinVar |
PMID:16507770 PMID:23403622 PMID:28492532 |
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NCBI chr 2:26,692,403...26,704,710
Ensembl chr 2:26,692,403...26,704,710
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G |
F2rl1 |
F2R like trypsin receptor 1 |
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ISO |
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 |
ClinVar |
PMID:16507770 PMID:23403622 PMID:28492532 |
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NCBI chr 2:26,772,274...26,785,226
Ensembl chr 2:26,772,278...26,785,226
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G |
Hps3 |
HPS3, biogenesis of lysosomal organelles complex 2 subunit 1 |
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ISO |
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 |
ClinVar |
PMID:11590544 PMID:28492532 PMID:31898847 PMID:32581362 |
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NCBI chr 2:102,484,574...102,527,580
Ensembl chr 2:102,484,574...102,526,047
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G |
Lhfpl2 |
LHFPL tetraspan subfamily member 2 |
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ISO |
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 |
ClinVar |
PMID:16507770 PMID:23403622 PMID:28492532 |
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NCBI chr 2:25,281,771...25,428,128
Ensembl chr 2:25,281,901...25,427,950
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G |
Otp |
orthopedia homeobox |
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ISO |
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 |
ClinVar |
PMID:16507770 PMID:23403622 PMID:28492532 |
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NCBI chr 2:26,108,158...26,116,359
Ensembl chr 2:26,108,163...26,116,359
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G |
Pde8b |
phosphodiesterase 8B |
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ISO |
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 |
ClinVar |
PMID:16507770 PMID:23403622 PMID:28492532 |
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NCBI chr 2:26,275,117...26,479,725
Ensembl chr 2:26,276,635...26,509,209
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G |
S100z |
S100 calcium binding protein Z |
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ISO |
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 |
ClinVar |
PMID:16507770 PMID:23403622 PMID:28492532 |
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NCBI chr 2:26,738,780...26,753,611
Ensembl chr 2:26,738,776...26,752,390
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G |
Scamp1 |
secretory carrier membrane protein 1 |
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ISO |
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 |
ClinVar |
PMID:16507770 PMID:23403622 PMID:28492532 |
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NCBI chr 2:25,433,958...25,516,734
Ensembl chr 2:25,433,959...25,516,673
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G |
Tbca |
tubulin folding cofactor A |
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ISO |
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 |
ClinVar |
PMID:16507770 PMID:23403622 PMID:28492532 |
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NCBI chr 2:26,011,714...26,065,909
Ensembl chr 2:26,011,795...26,065,907
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G |
Wdr41 |
WD repeat domain 41 |
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ISO |
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 |
ClinVar |
PMID:16507770 PMID:23403622 PMID:28492532 |
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NCBI chr 2:26,222,797...26,273,840
Ensembl chr 2:26,224,495...26,273,836
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G |
Zbed3 |
zinc finger, BED-type containing 3 |
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ISO |
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 |
ClinVar |
PMID:16507770 PMID:23403622 PMID:28492532 |
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NCBI chr 2:26,587,620...26,600,177
Ensembl chr 2:26,587,572...26,600,386
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G |
Cp |
ceruloplasmin |
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ISO |
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 3 |
ClinVar |
PMID:11590544 PMID:16199547 PMID:24033266 PMID:25741868 PMID:28492532 PMID:30990103 PMID:31898847 More...
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NCBI chr 2:102,439,433...102,498,075
Ensembl chr 2:102,439,624...102,498,075
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G |
Hps3 |
HPS3, biogenesis of lysosomal organelles complex 2 subunit 1 |
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ISO |
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 3 DNA:splice-site mutation:intron:1303+1G>A (human) |
OMIM ClinVar RGD |
PMID:9536098 PMID:11455388 PMID:11590544 PMID:16199547 PMID:17576681 PMID:17933573 PMID:18414213 PMID:24033266 PMID:25525159 PMID:25741868 PMID:27593200 PMID:28492532 PMID:30387913 PMID:30990103 PMID:31141302 PMID:31898847 PMID:11590544 More...
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RGD:11041885 |
NCBI chr 2:102,484,574...102,527,580
Ensembl chr 2:102,484,574...102,526,047
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G |
Hps1 |
HPS1, biogenesis of lysosomal organelles complex 3 subunit 1 |
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ISO |
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome with pulmonary fibrosis |
ClinVar |
PMID:12442288 PMID:16185271 PMID:25741868 PMID:28492532 |
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NCBI chr 1:241,551,180...241,577,292
Ensembl chr 1:241,551,175...241,577,268
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G |
Hps4 |
HPS4, biogenesis of lysosomal organelles complex 3 subunit 2 |
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ISO |
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 4 |
OMIM ClinVar |
PMID:11836498 PMID:12664304 PMID:15108212 PMID:16199547 PMID:20158590 PMID:21833017 PMID:24033266 PMID:25741868 PMID:28492532 PMID:29600982 PMID:30985222 PMID:31898847 More...
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NCBI chr12:44,264,037...44,294,791
Ensembl chr12:44,264,037...44,294,632
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G |
Hps5 |
HPS5, biogenesis of lysosomal organelles complex 2 subunit 2 |
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ISO |
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 5 |
OMIM ClinVar |
PMID:12548288 PMID:15296495 PMID:21833017 PMID:22995991 PMID:23607980 PMID:24033266 PMID:24698632 PMID:25741868 PMID:26785811 PMID:28296950 PMID:28492532 PMID:28640947 PMID:31064749 More...
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NCBI chr 1:97,281,626...97,320,945
Ensembl chr 1:97,247,598...97,321,019
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G |
Hps6 |
HPS6, biogenesis of lysosomal organelles complex 2 subunit 3 |
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ISO |
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 6 |
OMIM ClinVar |
PMID:12548288 PMID:17041891 PMID:19843503 PMID:20158590 PMID:24033266 PMID:25741868 PMID:25949529 PMID:27225848 PMID:28492532 PMID:29345414 PMID:30369044 PMID:30387913 PMID:31064749 PMID:31898847 PMID:32581362 PMID:32725903 PMID:32830442 PMID:33878481 PMID:35054407 More...
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NCBI chr 1:244,853,256...244,855,865
Ensembl chr 1:244,853,194...244,855,883
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G |
Dtnbp1 |
dystrobrevin binding protein 1 |
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ISO |
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 7 |
OMIM ClinVar |
PMID:12923531 PMID:23364359 PMID:25741868 PMID:28259707 PMID:28492532 PMID:30990103 More...
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NCBI chr17:19,685,218...19,776,668
Ensembl chr17:19,685,215...19,776,661
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G |
Bloc1s3 |
biogenesis of lysosomal organelles complex-1, subunit 3 |
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ISO |
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 8 |
OMIM ClinVar |
PMID:16385460 PMID:22709368 PMID:24033266 PMID:25741868 PMID:28492532 PMID:29345414 More...
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NCBI chr 1:79,155,914...79,158,326
Ensembl chr 1:79,155,693...79,158,505
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G |
Bloc1s6 |
biogenesis of lysosomal organelles complex 1 subunit 6 |
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ISO |
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 9 |
OMIM ClinVar |
PMID:9536098 PMID:10610180 PMID:16199547 PMID:17576681 PMID:21665000 PMID:22461475 PMID:25741868 PMID:26575419 PMID:28492532 PMID:32245340 PMID:33543539 More...
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NCBI chr 3:109,816,397...109,826,528
Ensembl chr 3:109,816,366...109,828,308
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G |
Arpc1b |
actin related protein 2/3 complex, subunit 1B |
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ISO |
ClinVar Annotator: match by term: Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28368018 PMID:28492532 PMID:29127144 PMID:30254128 PMID:32499645 PMID:33679784 More...
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NCBI chr12:9,482,176...9,495,772
Ensembl chr12:9,480,831...9,495,747
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G |
Tuba8 |
tubulin, alpha 8 |
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ISO |
ClinVar Annotator: match by term: Macrothrombocytopenia, isolated, 2, autosomal dominant |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:34704371 |
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NCBI chr 4:154,440,045...154,456,918
Ensembl chr 4:154,440,074...154,456,917
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G |
Sall4 |
spalt-like transcription factor 4 |
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ISO |
ClinVar Annotator: match by term: Oculootoradial syndrome | ClinVar Annotator: match by term: SALL4-Related Spectrum Disorders |
OMIM ClinVar |
PMID:7395922 PMID:17256792 PMID:25741868 PMID:28492532 |
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NCBI chr 3:157,474,067...157,491,055
Ensembl chr 3:157,474,642...157,490,822
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G |
Acad8 |
acyl-CoA dehydrogenase family, member 8 |
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ISO |
ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia |
ClinVar |
PMID:32581362 |
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NCBI chr 8:25,382,271...25,406,429
Ensembl chr 8:25,382,273...25,406,414
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G |
Acrv1 |
acrosomal vesicle protein 1 |
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ISO |
ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia |
ClinVar |
PMID:32581362 |
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NCBI chr 8:36,404,394...36,409,971
Ensembl chr 8:36,404,394...36,424,959
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G |
Adamts15 |
ADAM metallopeptidase with thrombospondin type 1 motif, 15 |
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ISO |
ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia |
ClinVar |
PMID:32581362 |
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NCBI chr 8:29,307,864...29,331,249
Ensembl chr 8:29,307,865...29,331,249
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G |
Adamts8 |
ADAM metallopeptidase with thrombospondin type 1 motif, 8 |
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ISO |
ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia |
ClinVar |
PMID:32581362 |
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NCBI chr 8:29,349,078...29,368,413
Ensembl chr 8:29,349,114...29,368,404
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G |
Aplp2 |
amyloid beta precursor like protein 2 |
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ISO |
ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia |
ClinVar |
PMID:32581362 |
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NCBI chr 8:29,599,230...29,662,311
Ensembl chr 8:29,599,230...29,661,855
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G |
Arhgap32 |
Rho GTPase activating protein 32 |
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ISO |
ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia |
ClinVar |
PMID:32581362 |
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NCBI chr 8:30,421,269...30,681,653
Ensembl chr 8:30,421,515...30,678,454
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G |
B3gat1 |
beta-1,3-glucuronyltransferase 1 |
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ISO |
ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia |
ClinVar |
PMID:32581362 |
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NCBI chr 8:25,087,123...25,114,692
Ensembl chr 8:25,087,547...25,113,395
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G |
Barx2 |
BARX homeobox 2 |
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ISO |
ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia |
ClinVar |
PMID:32581362 |
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NCBI chr 8:30,251,132...30,319,105
Ensembl chr 8:30,251,132...30,319,013
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G |
Ccdc15 |
coiled-coil domain containing 15 |
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ISO |
ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia |
ClinVar |
PMID:32581362 |
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NCBI chr 8:36,991,147...37,068,849
Ensembl chr 8:36,998,867...37,068,919
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G |
Cdon |
cell adhesion associated, oncogene regulated |
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ISO |
ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia |
ClinVar |
PMID:32581362 |
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NCBI chr 8:33,775,123...33,861,635
Ensembl chr 8:33,806,183...33,859,033
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G |
Chek1 |
checkpoint kinase 1 |
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ISO |
ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia |
ClinVar |
PMID:32581362 |
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NCBI chr 8:36,420,565...36,443,477
Ensembl chr 8:36,420,569...36,441,009
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G |
Dcps |
decapping enzyme, scavenger |
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ISO |
ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia |
ClinVar |
PMID:32581362 |
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NCBI chr 8:33,468,669...33,524,407
Ensembl chr 8:33,415,671...33,524,389
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G |
Ddx25 |
DEAD-box helicase 25 |
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ISO |
ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia |
ClinVar |
PMID:32581362 |
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NCBI chr 8:33,894,224...33,910,377
Ensembl chr 8:33,894,232...33,921,764
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G |
Ei24 |
EI24, autophagy associated transmembrane protein |
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ISO |
ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia |
ClinVar |
PMID:32581362 |
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NCBI chr 8:36,494,289...36,510,653
Ensembl chr 8:36,494,289...36,510,571
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G |
Esam |
endothelial cell adhesion molecule |
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ISO |
ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia |
ClinVar |
PMID:32581362 |
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NCBI chr 8:37,238,228...37,249,217
Ensembl chr 8:37,238,287...37,249,215
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G |
Ets1 |
ETS proto-oncogene 1, transcription factor |
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ISO |
ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia |
ClinVar |
PMID:32581362 |
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NCBI chr 8:31,045,909...31,168,010
Ensembl chr 8:31,045,945...31,168,010
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G |
Fam118b |
family with sequence similarity 118, member B |
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ISO |
ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia |
ClinVar |
PMID:32581362 |
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NCBI chr 8:33,566,681...33,617,310
Ensembl chr 8:33,566,669...33,617,270
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G |
Fez1 |
fasciculation and elongation protein zeta 1 |
|
ISO |
ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia |
ClinVar |
PMID:32581362 |
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NCBI chr 8:36,544,462...36,589,684
Ensembl chr 8:36,544,535...36,589,683
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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 |
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NCBI chr 8:30,831,422...30,950,468
Ensembl chr 8:30,832,753...30,950,433
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G |
Foxred1 |
FAD-dependent oxidoreductase domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia |
ClinVar |
PMID:32581362 |
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NCBI chr 8:33,551,010...33,560,227
Ensembl chr 8:33,551,013...33,560,192
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G |
Glb1l2 |
galactosidase, beta 1-like 2 |
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ISO |
ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia |
ClinVar |
PMID:32581362 |
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NCBI chr 8:25,115,462...25,166,843
Ensembl chr 8:25,115,462...25,166,783
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G |
Glb1l3 |
galactosidase, beta 1-like 3 |
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ISO |
ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia |
ClinVar |
PMID:32581362 |
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NCBI chr 8:25,179,165...25,220,904
Ensembl chr 8:25,179,165...25,220,904
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G |
Hepacam |
hepatic and glial cell adhesion molecule |
|
ISO |
ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia |
ClinVar |
PMID:32581362 |
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NCBI chr 8:37,087,864...37,106,759
Ensembl chr 8:37,087,857...37,105,920
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G |
Hyls1 |
HYLS1, centriolar and ciliogenesis associated |
|
ISO |
ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia |
ClinVar |
PMID:32581362 |
|
NCBI chr 8:33,913,016...33,922,125
Ensembl chr 8:33,912,692...33,921,760
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G |
Igsf9b |
immunoglobulin superfamily, member 9B |
|
ISO |
ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia |
ClinVar |
PMID:32581362 |
|
NCBI chr 8:25,712,644...25,769,481
Ensembl chr 8:25,712,644...25,758,554
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|
G |
Jam3 |
junctional adhesion molecule 3 |
|
ISO |
ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia |
ClinVar |
PMID:32581362 |
|
NCBI chr 8:25,508,461...25,569,306
Ensembl chr 8:25,507,057...25,569,355
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|
G |
Kcnj1 |
potassium inwardly-rectifying channel, subfamily J, member 1 |
|
ISO |
ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia |
ClinVar |
PMID:32581362 |
|
NCBI chr 8:30,779,883...30,808,607
Ensembl chr 8:30,753,617...30,813,796
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|
G |
Kcnj5 |
potassium inwardly-rectifying channel, subfamily J, member 5 |
|
ISO |
ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia |
ClinVar |
PMID:32581362 |
|
NCBI chr 8:30,724,923...30,753,083
Ensembl chr 8:30,724,925...30,753,518
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|
G |
Kirrel3 |
kirre like nephrin family adhesion molecule 3 |
|
ISO |
ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia |
ClinVar |
PMID:32581362 |
|
NCBI chr 8:32,865,779...33,407,555
Ensembl chr 8:32,862,776...33,405,676
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|
G |
Msantd2 |
Myb/SANT DNA binding domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia |
ClinVar |
PMID:32581362 |
|
NCBI chr 8:37,200,890...37,234,691
Ensembl chr 8:37,200,260...37,234,476
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G |
Ncapd3 |
non-SMC condensin II complex, subunit D3 |
|
ISO |
ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia |
ClinVar |
PMID:32581362 |
|
NCBI chr 8:25,437,067...25,506,375
Ensembl chr 8:25,437,123...25,506,373
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|
G |
Nfrkb |
nuclear factor related to kappa B binding protein |
|
ISO |
ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia |
ClinVar |
PMID:32581362 |
|
NCBI chr 8:29,831,802...29,863,360
Ensembl chr 8:29,831,812...29,863,359
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G |
Nrgn |
neurogranin |
|
ISO |
ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia |
ClinVar |
PMID:32581362 |
|
NCBI chr 8:37,255,462...37,263,659
Ensembl chr 8:37,256,930...37,257,516
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G |
Ntm |
neurotrimin |
|
ISO |
ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia |
ClinVar |
PMID:32581362 |
|
NCBI chr 8:27,376,582...28,366,604
Ensembl chr 8:27,377,773...28,366,595
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|
G |
Opcml |
opioid binding protein/cell adhesion molecule-like |
|
ISO |
ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia |
ClinVar |
PMID:32581362 |
|
NCBI chr 8:26,788,988...27,304,551
Ensembl chr 8:26,192,841...27,300,620
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|
G |
Or8a1b |
olfactory receptor family 8 subfamily A member 1B |
|
ISO |
ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia |
ClinVar |
PMID:32581362 |
|
NCBI chr 8:37,434,903...37,435,832
Ensembl chr 8:37,434,551...37,439,746
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|
G |
Or8b12 |
olfactory receptor family 8 subfamily B member 12 |
|
ISO |
ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia |
ClinVar |
PMID:32581362 |
|
NCBI chr 8:37,479,706...37,480,638
Ensembl chr 8:37,478,794...37,481,315
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|
G |
Or8b3 |
olfactory receptor family 8 subfamily B member 3 |
|
ISO |
ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia |
ClinVar |
PMID:32581362 |
|
NCBI chr 8:38,521,915...38,522,856
Ensembl chr 8:38,520,758...38,522,936
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G |
Or8b4 |
olfactory receptor family 8 subfamily B member 4 |
|
ISO |
ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia |
ClinVar |
PMID:32581362 |
|
NCBI chr 8:37,720,158...37,721,087
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|
G |
Or8b8 |
olfactory receptor family 8 subfamily B member 8 |
|
ISO |
ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia |
ClinVar |
PMID:32581362 |
|
NCBI chr 8:37,693,578...37,694,510
Ensembl chr 8:37,693,499...37,694,547
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G |
Panx3 |
pannexin 3 |
|
ISO |
ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia |
ClinVar |
PMID:32581362 |
|
NCBI chr 8:37,366,758...37,377,640
Ensembl chr 8:37,366,862...37,377,640
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|
G |
Pate1 |
prostate and testis expressed 1 |
|
ISO |
ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia |
ClinVar |
PMID:32581362 |
|
NCBI chr 8:34,048,617...34,050,848
Ensembl chr 8:34,048,617...34,050,848
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|
G |
Pate2 |
prostate and testis expressed 2 |
|
ISO |
ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia |
ClinVar |
PMID:32581362 |
|
NCBI chr 8:34,019,123...34,026,850
Ensembl chr 8:34,024,114...34,050,517
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|
G |
Pate3 |
prostate and testis expressed 3 |
|
ISO |
ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia |
ClinVar |
PMID:32581362 |
|
NCBI chr 8:34,014,164...34,016,175
Ensembl chr 8:34,014,164...34,016,175
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|
G |
Pate4 |
prostate and testis expressed 4 |
|
ISO |
ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia |
ClinVar |
PMID:32581362 |
|
NCBI chr 8:33,988,812...33,991,552
Ensembl chr 8:33,988,812...33,991,552
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|
G |
Pknox2 |
PBX/knotted 1 homeobox 2 |
|
ISO |
ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia |
ClinVar |
PMID:32581362 |
|
NCBI chr 8:36,600,633...36,863,131
Ensembl chr 8:36,600,636...36,790,940
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|
G |
Prdm10 |
PR/SET domain 10 |
|
ISO |
ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia |
ClinVar |
PMID:32581362 |
|
NCBI chr 8:29,724,011...29,827,757
Ensembl chr 8:29,724,245...29,826,080
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|
G |
Pus3 |
pseudouridine synthase 3 |
|
ISO |
ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia |
ClinVar |
PMID:32581362 |
|
NCBI chr 8:33,910,461...33,918,716
Ensembl chr 8:33,911,357...33,918,714
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|
G |
Robo3 |
roundabout guidance receptor 3 |
|
ISO |
ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia |
ClinVar |
PMID:32581362 |
|
NCBI chr 8:37,133,542...37,151,674
Ensembl chr 8:37,133,916...37,151,315
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|
G |
Robo4 |
roundabout guidance receptor 4 |
|
ISO |
ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia |
ClinVar |
PMID:32581362 |
|
NCBI chr 8:37,119,966...37,133,887
Ensembl chr 8:37,119,988...37,132,519
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|
G |
Rpusd4 |
RNA pseudouridine synthase D4 |
|
ISO |
ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia |
ClinVar |
PMID:32581362 |
|
NCBI chr 8:33,617,384...33,626,873
Ensembl chr 8:33,617,379...33,626,873
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|
G |
Siae |
sialic acid acetylesterase |
|
ISO |
ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia |
ClinVar |
PMID:32581362 |
|
NCBI chr 8:37,318,724...37,354,004
Ensembl chr 8:37,318,747...37,353,996
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|
G |
Slc37a2 |
solute carrier family 37 member 2 |
|
ISO |
ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia |
ClinVar |
PMID:32581362 |
|
NCBI chr 8:36,945,787...36,971,748
Ensembl chr 8:36,946,930...36,971,482
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|
G |
Snx19 |
sorting nexin 19 |
|
ISO |
ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia |
ClinVar |
PMID:32581362 |
|
NCBI chr 8:28,829,881...28,867,600
Ensembl chr 8:28,829,886...28,867,061
|
|
G |
Spa17 |
sperm autoantigenic protein 17 |
|
ISO |
ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia |
ClinVar |
PMID:32581362 |
|
NCBI chr 8:37,307,432...37,318,645
Ensembl chr 8:37,307,557...37,318,639
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|
G |
Spata19 |
spermatogenesis associated 19 |
|
ISO |
ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia |
ClinVar |
PMID:32581362 |
|
NCBI chr 8:25,814,922...25,820,663
Ensembl chr 8:25,814,905...25,820,670
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|
G |
Srpra |
SRP receptor subunit alpha |
|
ISO |
ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia |
ClinVar |
PMID:32581362 |
|
NCBI chr 8:33,560,365...33,566,458
Ensembl chr 8:33,560,348...33,566,470
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|
G |
St14 |
ST14 transmembrane serine protease matriptase |
|
ISO |
ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia |
ClinVar |
PMID:32581362 |
|
NCBI chr 8:29,540,805...29,581,704
Ensembl chr 8:29,540,811...29,581,517
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|
G |
St3gal4 |
ST3 beta-galactoside alpha-2,3-sialyltransferase 4 |
|
ISO |
ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia |
ClinVar |
PMID:32581362 |
|
NCBI chr 8:33,415,666...33,465,365
Ensembl chr 8:33,415,671...33,524,389
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|
G |
Stt3a |
STT3 oligosaccharyltransferase complex catalytic subunit A |
|
ISO |
ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia |
ClinVar |
PMID:32581362 |
|
NCBI chr 8:36,443,623...36,483,111
Ensembl chr 8:36,446,788...36,483,293
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|
G |
Tbrg1 |
transforming growth factor beta regulator 1 |
|
ISO |
ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia |
ClinVar |
PMID:32581362 |
|
NCBI chr 8:37,355,274...37,362,933
Ensembl chr 8:37,354,658...37,362,930
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|
G |
Thyn1 |
thymocyte nuclear protein 1 |
|
ISO |
ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia |
ClinVar |
PMID:32581362 |
|
NCBI chr 8:25,406,563...25,415,444
Ensembl chr 8:25,406,500...25,415,445
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|
G |
Tirap |
TIR domain containing adaptor protein |
|
ISO |
ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia |
ClinVar |
PMID:32581362 |
|
NCBI chr 8:33,531,724...33,548,508
Ensembl chr 8:33,531,725...33,547,432
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|
G |
Tmem218 |
transmembrane protein 218 |
|
ISO |
ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia |
ClinVar |
PMID:32581362 |
|
NCBI chr 8:36,924,553...36,940,564
Ensembl chr 8:36,924,585...36,939,927
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|
G |
Tmem45b |
transmembrane protein 45b |
|
ISO |
ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia |
ClinVar |
PMID:32581362 |
|
NCBI chr 8:29,865,276...29,910,453
Ensembl chr 8:29,865,278...29,910,453
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|
G |
Vps26b |
VPS26 retromer complex component B |
|
ISO |
ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia |
ClinVar |
PMID:32581362 |
|
NCBI chr 8:25,415,877...25,436,985
Ensembl chr 8:25,415,261...25,436,985
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G |
Vsig2 |
V-set and immunoglobulin domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia |
ClinVar |
PMID:32581362 |
|
NCBI chr 8:37,250,107...37,255,150
Ensembl chr 8:37,250,107...37,255,150
|
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G |
Zbtb44 |
zinc finger and BTB domain containing 44 |
|
ISO |
ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia |
ClinVar |
PMID:32581362 |
|
NCBI chr 8:29,466,055...29,524,027
Ensembl chr 8:29,466,352...29,518,163
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G |
Fgf2 |
fibroblast growth factor 2 |
|
ISO |
|
RGD |
PMID:14517397 |
RGD:8655667 |
NCBI chr 2:120,236,328...120,290,673
Ensembl chr 2:120,236,328...120,291,221
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G |
Gna14 |
G protein subunit alpha 14 |
|
ISO |
ClinVar Annotator: match by term: Kaposiform hemangioendothelioma |
ClinVar |
PMID:25741868 PMID:27476652 |
|
NCBI chr 1:213,714,993...213,900,083
Ensembl chr 1:213,716,020...213,897,423
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G |
Myh9 |
myosin, heavy chain 9 |
|
ISO |
DNA:missense mutation:exon:p.R702H(human) ClinVar Annotator: match by term: MYH9-related disorder | ClinVar Annotator: match by term: Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss | ClinVar Annotator: match by term: Sebastian platelet syndrome CTD Direct Evidence: marker/mechanism DNA:mutation:exon:p.E1841K(human) DNA:mutation:cds:p.R702C(mouse) DNA:missense mutations:exons:multiple |
ClinVar CTD OMIM RGD |
PMID:1449176 PMID:5011389 PMID:8280620 PMID:9390828 PMID:9536098 PMID:10603121 PMID:10739770 PMID:10973259 PMID:10973260 PMID:11023810 PMID:11093280 PMID:11159552 PMID:11590545 PMID:11752022 PMID:11776386 PMID:11935325 PMID:12237319 PMID:12533692 PMID:12621333 PMID:12649151 PMID:12792306 PMID:15339844 PMID:15613099 PMID:15667538 PMID:16098078 PMID:16162639 PMID:16818291 PMID:16969870 PMID:16978745 PMID:17146397 PMID:17576681 PMID:17655694 PMID:18059020 PMID:18330899 PMID:18676005 PMID:19450438 PMID:19557653 PMID:19967157 PMID:20002731 PMID:20301740 PMID:20416459 PMID:20588287 PMID:21542825 PMID:22123909 PMID:22477015 PMID:22627578 PMID:22995991 PMID:23123319 PMID:23144074 PMID:23207509 PMID:23349334 PMID:23409987 PMID:23804846 PMID:24033266 PMID:24123792 PMID:24130771 PMID:24186861 PMID:24643058 PMID:24875298 PMID:24890873 PMID:25077172 PMID:25505834 PMID:25741868 PMID:25752595 PMID:25949529 PMID:26056797 PMID:26226608 PMID:26346198 PMID:26387855 PMID:26467025 PMID:26969326 PMID:27068579 PMID:27610647 PMID:28059092 PMID:28492532 PMID:28983057 PMID:29090586 PMID:29532554 PMID:29679756 PMID:29782633 PMID:30311386 PMID:30471777 PMID:30720677 PMID:30916803 PMID:31064749 PMID:31308072 PMID:31555371 PMID:31562665 PMID:31977897 PMID:32100410 PMID:32545517 PMID:32604935 PMID:32746448 PMID:33004838 PMID:33532864 PMID:34355501 PMID:11935325 PMID:16806139 PMID:23976996 PMID:11752022 More...
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RGD:6902926, RGD:11532766, RGD:11533924, RGD:6903235 |
NCBI chr 7:109,343,718...109,424,457
Ensembl chr 7:109,343,706...109,424,457
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G |
Tubb1 |
tubulin, beta 1 class VI |
|
ISO |
ClinVar Annotator: match by term: Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss |
ClinVar |
PMID:25741868 |
|
NCBI chr 3:163,247,990...163,257,460
Ensembl chr 3:163,247,967...163,256,063
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G |
Itga2 |
integrin subunit alpha 2 |
|
ISO |
ClinVar Annotator: match by term: Fetal and neonatal alloimmune thrombocytopenia |
ClinVar |
PMID:23368983 PMID:25741868 |
|
NCBI chr 2:46,520,345...46,621,487
Ensembl chr 2:46,523,948...46,621,481
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G |
Itga2b |
integrin subunit alpha 2b |
|
ISO |
ClinVar Annotator: match by term: BAK PLATELET-SPECIFIC ANTIGEN |
ClinVar |
PMID:2014236 PMID:25741868 PMID:28492532 |
|
NCBI chr10:87,408,532...87,426,055
Ensembl chr10:87,408,536...87,426,168
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G |
Itgb3 |
integrin subunit beta 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Ca/Tu ALLOANTIGEN POLYMORPHISM | ClinVar Annotator: match by term: Fetal and neonatal alloimmune thrombocytopenia | ClinVar Annotator: match by term: Mo ALLOANTIGEN POLYMORPHISM | ClinVar Annotator: match by term: PEN(a)/PEN(b) ALLOANTIGEN POLYMORPHISM |
CTD ClinVar |
PMID:1430225 PMID:2257303 PMID:7694683 PMID:8093349 PMID:8457479 PMID:9787162 PMID:14516468 PMID:21658138 PMID:25741868 PMID:25827233 PMID:28370162 PMID:28492532 More...
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NCBI chr10:89,509,917...89,564,679
Ensembl chr10:89,509,989...89,564,679
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G |
Ap3b1 |
adaptor related protein complex 3 subunit beta 1 |
|
ISS |
OMIM:185050 |
MouseDO |
|
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NCBI chr 2:25,600,069...25,800,937
Ensembl chr 2:25,600,040...25,800,935
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G |
Ap3d1 |
adaptor related protein complex 3 subunit delta 1 |
|
ISS |
OMIM:185050 |
MouseDO |
|
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NCBI chr 7:8,970,249...9,005,651
Ensembl chr 7:8,970,291...9,005,643
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G |
Bloc1s5 |
biogenesis of lysosomal organelles complex 1 subunit 5 |
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ISS |
OMIM:185050 |
MouseDO |
|
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NCBI chr17:26,171,965...26,197,276
Ensembl chr17:26,172,018...26,197,251
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G |
Bloc1s6 |
biogenesis of lysosomal organelles complex 1 subunit 6 |
|
ISS |
OMIM:185050 |
MouseDO |
|
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NCBI chr 3:109,816,397...109,826,528
Ensembl chr 3:109,816,366...109,828,308
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G |
Dock7 |
dedicator of cytokinesis 7 |
|
ISS |
OMIM:185050 |
MouseDO |
|
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NCBI chr 5:113,599,371...113,782,871
Ensembl chr 5:113,600,198...113,782,813
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G |
Dtnbp1 |
dystrobrevin binding protein 1 |
|
ISS |
OMIM:185050 |
MouseDO |
|
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NCBI chr17:19,685,218...19,776,668
Ensembl chr17:19,685,215...19,776,661
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G |
Gfi1b |
growth factor independent 1B transcriptional repressor |
|
ISO |
ClinVar Annotator: match by term: Storage pool disease of platelets |
ClinVar |
PMID:25741868 |
|
NCBI chr 3:11,940,232...11,952,989
Ensembl chr 3:11,940,233...11,952,942
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G |
Hps1 |
HPS1, biogenesis of lysosomal organelles complex 3 subunit 1 |
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ISS |
OMIM:185050 |
MouseDO |
|
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NCBI chr 1:241,551,180...241,577,292
Ensembl chr 1:241,551,175...241,577,268
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G |
Hps3 |
HPS3, biogenesis of lysosomal organelles complex 2 subunit 1 |
|
ISS |
OMIM:185050 |
MouseDO |
|
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NCBI chr 2:102,484,574...102,527,580
Ensembl chr 2:102,484,574...102,526,047
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G |
Hps4 |
HPS4, biogenesis of lysosomal organelles complex 3 subunit 2 |
|
ISS |
OMIM:185050 |
MouseDO |
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NCBI chr12:44,264,037...44,294,791
Ensembl chr12:44,264,037...44,294,632
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G |
Hps5 |
HPS5, biogenesis of lysosomal organelles complex 2 subunit 2 |
|
ISS |
OMIM:185050 |
MouseDO |
|
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NCBI chr 1:97,281,626...97,320,945
Ensembl chr 1:97,247,598...97,321,019
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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:28492532 PMID:31064749 |
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NCBI chr 1:244,853,256...244,855,865
Ensembl chr 1:244,853,194...244,855,883
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G |
Lyst |
lysosomal trafficking regulator |
|
ISS |
OMIM:185050 |
MouseDO |
|
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NCBI chr17:86,241,384...86,443,501
Ensembl chr17:86,241,384...86,443,480
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G |
Rab27a |
RAB27A, member RAS oncogene family |
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ISS |
OMIM:185050 |
MouseDO |
|
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NCBI chr 8:73,782,730...73,836,630
Ensembl chr 8:73,782,694...73,847,829
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G |
Rab27b |
RAB27B, member RAS oncogene family |
|
ISS |
OMIM:185050 |
MouseDO |
|
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NCBI chr18:63,597,554...63,794,124
Ensembl chr18:63,600,937...63,757,180
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G |
Rab38 |
RAB38, member RAS oncogene family |
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IAGP |
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RGD |
PMID:9250486 |
RGD:1302447 |
NCBI chr 1:142,182,566...142,262,923
Ensembl chr 1:142,182,556...142,262,924
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G |
Rab38ru |
Rab38, member of RAS oncogene family, ruby allele |
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IAGP |
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RGD |
PMID:9250486 |
RGD:1302447 |
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G |
Runx1 |
RUNX family transcription factor 1 |
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ISO |
ClinVar Annotator: match by term: Storage pool disease of platelets |
ClinVar |
PMID:25741868 PMID:31064749 |
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NCBI chr11:31,839,880...32,074,427
Ensembl chr11:31,843,764...32,074,542
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G |
Slc7a11 |
solute carrier family 7 member 11 |
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ISS |
OMIM:185050 |
MouseDO |
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NCBI chr 2:134,382,002...134,517,622
Ensembl chr 2:133,963,107...134,517,536
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G |
Cd36 |
CD36 molecule |
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ISO |
ClinVar Annotator: match by term: Platelet-type bleeding disorder 10 |
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 PMID:33116287 More...
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NCBI chr 4:17,317,343...17,410,084
Ensembl chr 4:17,354,466...17,513,903
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G |
Serpine1 |
serpin family E member 1 |
severity |
ISO |
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RGD |
PMID:18820218 |
RGD:13208509 |
NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
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G |
Gp6 |
glycoprotein VI |
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ISO |
ClinVar Annotator: match by term: Platelet-type bleeding disorder 11 |
OMIM ClinVar |
PMID:19549989 PMID:19552682 PMID:23815599 PMID:25741868 PMID:28492532 PMID:29232918 PMID:32935436 More...
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NCBI chr 1:69,429,232...69,492,709
Ensembl chr 1:69,465,789...69,491,326
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G |
Abcg5 |
ATP binding cassette subfamily G member 5 |
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ISO |
ClinVar Annotator: match by term: Impaired thromboxane A2 agonist-induced platelet aggregation |
ClinVar |
PMID:32581362 |
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NCBI chr 6:9,965,118...9,990,563
Ensembl chr 6:9,965,118...9,990,563
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G |
Tbxa2r |
thromboxane A2 receptor |
susceptibility |
ISO |
ClinVar Annotator: match by term: Impaired thromboxane A2 agonist-induced platelet aggregation | ClinVar Annotator: match by term: Platelet-type bleeding disorder 13, susceptibility to CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM RGD |
PMID:2955539 PMID:7929844 PMID:8428006 PMID:8613548 PMID:19828703 PMID:22517902 PMID:25741868 PMID:28492532 PMID:31064749 PMID:9835625 More...
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RGD:11059528 |
NCBI chr 7:8,383,347...8,390,753
Ensembl chr 7:8,383,378...8,388,176
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G |
Tbxas1 |
thromboxane A synthase 1 |
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ISO |
ClinVar Annotator: match by term: Bleeding disorder, platelet-type, 14 |
OMIM ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 4:67,664,963...67,837,096
Ensembl chr 4:67,665,007...67,837,096
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G |
Actn1 |
actinin, alpha 1 |
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ISO |
ClinVar Annotator: match by term: Platelet-type bleeding disorder 15 |
OMIM ClinVar |
PMID:23434115 PMID:24069336 PMID:25361813 PMID:25741868 PMID:25949529 PMID:26453073 PMID:26879394 PMID:28492532 PMID:30351444 PMID:31064749 PMID:31237726 PMID:31365757 PMID:32478077 PMID:32581362 PMID:34355501 More...
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NCBI chr 6:98,998,553...99,093,334
Ensembl chr 6:98,998,556...99,093,251
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G |
Fli1 |
Fli-1 proto-oncogene, ETS transcription factor |
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ISO |
ClinVar Annotator: match by term: Bleeding disorder platelet type macrothrombocytopenia |
ClinVar |
PMID:23809206 PMID:26316623 |
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NCBI chr 8:30,831,422...30,950,468
Ensembl chr 8:30,832,753...30,950,433
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G |
Itga2b |
integrin subunit alpha 2b |
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ISO |
DNA:mutations:promoter, exon:multiple ClinVar Annotator: match by term: Platelet-type bleeding disorder 16 DNA:missense mutation: :p.N2D (97A>G) (human) DNA:mutation:cds:p.G13V(human) |
ClinVar OMIM RGD |
PMID:1638023 PMID:9215749 PMID:9834222 PMID:10607701 PMID:14687991 PMID:15099289 PMID:16722529 PMID:18065693 PMID:19691478 PMID:19805198 PMID:20020534 PMID:20081061 PMID:21454453 PMID:21917754 PMID:22102273 PMID:25539746 PMID:25728920 PMID:25741868 PMID:25749862 PMID:25944497 PMID:27469266 PMID:28492532 PMID:29090484 PMID:31064749 PMID:31119735 PMID:32139434 PMID:32237906 PMID:32581362 PMID:33276370 PMID:34355501 PMID:19691478 PMID:21029361 PMID:23912132 PMID:22394243 More...
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RGD:10755462, RGD:10755469, RGD:10755470, RGD:10766467 |
NCBI chr10:87,408,532...87,426,055
Ensembl chr10:87,408,536...87,426,168
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G |
Itgb3 |
integrin subunit beta 3 |
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ISO ISS |
DNA:missense mutations, deletions, insertion:exon:multiple ClinVar Annotator: match by term: Platelet-type bleeding disorder 16 OMIM:187800 |
ClinVar MouseDO RGD |
PMID:1371279 PMID:9351872 PMID:19570064 PMID:19821948 PMID:20804530 PMID:21287507 PMID:22490273 PMID:22862885 PMID:24617330 PMID:25741868 PMID:28492532 PMID:19691478 PMID:22250950 PMID:23912132 More...
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RGD:10755462, RGD:10755466, RGD:10755470 |
NCBI chr10:89,509,917...89,564,679
Ensembl chr10:89,509,989...89,564,679
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G |
Gfi1b |
growth factor independent 1B transcriptional repressor |
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ISO |
ClinVar Annotator: match by term: Platelet-type bleeding disorder 17 |
OMIM ClinVar |
PMID:1065298 PMID:5681484 PMID:23927492 PMID:25741868 PMID:28041820 PMID:30573501 PMID:31064749 PMID:34355501 More...
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NCBI chr 3:11,940,232...11,952,989
Ensembl chr 3:11,940,233...11,952,942
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G |
Rasgrp2 |
RAS guanyl releasing protein 2 |
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ISO |
ClinVar Annotator: match by term: Platelet-type bleeding disorder 18 |
OMIM ClinVar |
PMID:24958846 PMID:25741868 PMID:27235135 PMID:28983057 PMID:31064749 PMID:32581362 PMID:34355501 More...
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NCBI chr 1:203,705,777...203,722,993
Ensembl chr 1:203,707,481...203,722,993
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G |
Slfn14 |
schlafen family member 14 |
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ISO |
ClinVar Annotator: match by term: Platelet-type bleeding disorder 20 |
OMIM ClinVar |
PMID:25741868 PMID:26280575 PMID:26769223 PMID:28492532 PMID:29678925 PMID:32581362 More...
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NCBI chr10:68,076,326...68,087,794
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G |
Fli1 |
Fli-1 proto-oncogene, ETS transcription factor |
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ISO |
ClinVar Annotator: match by term: Bleeding disorder, platelet-type, 21 |
OMIM ClinVar |
PMID:23809206 PMID:24100448 PMID:25741868 PMID:26316623 PMID:28255014 PMID:28492532 PMID:31064749 PMID:32581362 PMID:32987389 PMID:34355501 More...
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NCBI chr 8:30,831,422...30,950,468
Ensembl chr 8:30,832,753...30,950,433
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G |
Ephb2 |
Eph receptor B2 |
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ISO |
ClinVar Annotator: match by term: Bleeding disorder, platelet-type, 22 |
OMIM ClinVar |
PMID:30213874 |
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NCBI chr 5:148,889,574...149,077,027
Ensembl chr 5:148,897,246...149,077,059
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G |
Itgb3 |
integrin subunit beta 3 |
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ISO |
ClinVar Annotator: match by term: Bleeding disorder, platelet-type, 24 |
OMIM ClinVar |
PMID:15583747 PMID:18065693 PMID:19336737 PMID:20081061 PMID:20804530 PMID:23253071 PMID:25741868 PMID:27469266 PMID:28492532 PMID:33276370 More...
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NCBI chr10:89,509,917...89,564,679
Ensembl chr10:89,509,989...89,564,679
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G |
Gp1ba |
glycoprotein Ib platelet subunit alpha |
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ISO |
DNA:missense mutation: :p.V239M (human) ClinVar Annotator: match by term: Pseudo von Willebrand disease DNA:deletion DNA:missense mutation: :p.G233V (human) |
ClinVar OMIM RGD |
PMID:2052556 PMID:8384898 PMID:8486780 PMID:25741868 PMID:31064749 PMID:34355501 PMID:7833477 PMID:15705799 PMID:2052556 More...
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RGD:10450814, RGD:10450803, RGD:10450823 |
NCBI chr10:55,352,938...55,355,804
Ensembl chr10:55,352,899...55,356,774
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G |
Med12l |
mediator complex subunit 12L |
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ISO |
ClinVar Annotator: match by term: Impaired ADP-induced platelet aggregation | ClinVar Annotator: match by term: Platelet-type bleeding disorder 8 |
ClinVar |
PMID:7706468 PMID:11196645 PMID:12578987 PMID:20966167 PMID:25741868 PMID:28492532 PMID:29117459 PMID:31064749 PMID:32100410 More...
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NCBI chr 2:143,253,048...143,576,507
Ensembl chr 2:143,252,139...143,573,741
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G |
P2ry12 |
purinergic receptor P2Y12 |
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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:12578987 PMID:20966167 PMID:25741868 PMID:28492532 PMID:29117459 PMID:31064749 PMID:32100410 More...
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NCBI chr 2:143,481,468...143,523,340
Ensembl chr 2:143,481,430...143,523,361
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G |
Itga2 |
integrin subunit alpha 2 |
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ISO |
ClinVar Annotator: match by term: COLLAGEN PLATELET RECEPTOR DEFICIENCY | ClinVar Annotator: match by term: Platelet-type bleeding disorder 9 |
OMIM ClinVar |
PMID:19500323 PMID:22862885 PMID:23368983 PMID:25741868 PMID:28492532 |
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NCBI chr 2:46,520,345...46,621,487
Ensembl chr 2:46,523,948...46,621,481
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G |
Mocs2 |
molybdenum cofactor synthesis 2 |
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ISO |
ClinVar Annotator: match by term: COLLAGEN PLATELET RECEPTOR DEFICIENCY | ClinVar Annotator: match by term: Platelet-type bleeding disorder 9 |
ClinVar |
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NCBI chr 2:46,504,574...46,516,327
Ensembl chr 2:46,504,588...46,516,324
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G |
Itgb3 |
integrin subunit beta 3 |
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ISO |
ClinVar Annotator: match by term: PEN(a)/PEN(b) ALLOANTIGEN POLYMORPHISM |
OMIM ClinVar |
PMID:1430225 PMID:9787162 PMID:14516468 PMID:21658138 PMID:25741868 PMID:28492532 More...
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NCBI chr10:89,509,917...89,564,679
Ensembl chr10:89,509,989...89,564,679
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G |
Plau |
plasminogen activator, urokinase |
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ISO |
ClinVar Annotator: match by term: Quebec platelet disorder |
OMIM ClinVar |
PMID:12689937 PMID:18988861 PMID:20007542 PMID:22102275 PMID:25741868 PMID:28301587 PMID:28492532 PMID:32663239 PMID:33270854 More...
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NCBI chr15:3,456,230...3,462,732
Ensembl chr15:3,456,232...3,462,775
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G |
Hoxa11 |
homeobox A11 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24239177 |
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NCBI chr 4:81,342,527...81,346,189
Ensembl chr 4:81,342,528...81,346,232
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G |
Hoxa11 |
homeobox A11 |
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ISO |
ClinVar Annotator: match by term: Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 |
OMIM ClinVar |
PMID:11101832 PMID:25741868 |
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NCBI chr 4:81,342,527...81,346,189
Ensembl chr 4:81,342,528...81,346,232
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G |
Mecom |
MDS1 and EVI1 complex locus |
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ISO |
ClinVar Annotator: match by term: Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 |
OMIM ClinVar |
PMID:20091385 PMID:25741868 PMID:26581901 PMID:28492532 PMID:29146883 PMID:29519864 PMID:34355501 More...
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NCBI chr 2:112,909,353...113,464,583
Ensembl chr 2:112,909,321...113,464,590
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G |
Pgap2 |
post-GPI attachment to proteins 2 |
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ISO |
ClinVar Annotator: match by term: Stormorken syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 1:156,591,540...156,618,116
Ensembl chr 1:156,591,615...156,618,114
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G |
Rhog |
ras homolog family member G |
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ISO |
ClinVar Annotator: match by term: Stormorken syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 1:156,618,713...156,630,710
Ensembl chr 1:156,615,349...156,631,257
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G |
Stim1 |
stromal interaction molecule 1 |
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ISO |
ClinVar Annotator: match by term: Stormorken syndrome |
OMIM ClinVar |
PMID:4085141 PMID:9536098 PMID:12623447 PMID:12745453 PMID:12944247 PMID:12944248 PMID:16199547 PMID:17576681 PMID:19420366 PMID:20876309 PMID:22190180 PMID:23332920 PMID:23851458 PMID:24033266 PMID:24492416 PMID:24570283 PMID:24591628 PMID:24619930 PMID:25044882 PMID:25326555 PMID:25577287 PMID:25640679 PMID:25741868 PMID:25918394 PMID:26184105 PMID:26255678 PMID:26436962 PMID:27066587 PMID:27239559 PMID:28492532 PMID:28624464 PMID:29237733 PMID:31844136 PMID:32098964 PMID:33468626 PMID:33628209 PMID:34498097 More...
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NCBI chr 1:156,656,246...156,818,777
Ensembl chr 1:156,656,013...156,818,363
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G |
Cdc42 |
cell division cycle 42 |
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ISO |
ClinVar Annotator: match by term: Takenouchi-Kosaki syndrome |
OMIM ClinVar |
PMID:25741868 PMID:26386261 PMID:26708094 PMID:26795593 PMID:27513193 PMID:28492532 PMID:28991257 PMID:29335451 PMID:29394990 PMID:33936654 More...
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NCBI chr 5:149,555,069...149,593,239
Ensembl chr 5:149,553,724...149,593,111
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G |
Mpl |
MPL proto-oncogene, thrombopoietin receptor |
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ISO |
ClinVar Annotator: match by term: Thrombocythemia 2 | ClinVar Annotator: match by term: Thrombocythemia 2, somatic |
OMIM ClinVar |
PMID:8073287 PMID:11133753 PMID:14764528 PMID:15269348 PMID:16199547 PMID:16470591 PMID:16834459 PMID:16868251 PMID:18451306 PMID:18528423 PMID:18769448 PMID:19036112 PMID:19483125 PMID:19608689 PMID:20113333 PMID:20151976 PMID:21326037 PMID:21489838 PMID:23970983 PMID:24033266 PMID:24728327 PMID:25023898 PMID:25538044 PMID:25741868 PMID:27069254 PMID:28492532 PMID:28823277 PMID:31064749 PMID:31294534 PMID:34573280 More...
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NCBI chr 5:131,973,897...131,987,472
Ensembl chr 5:131,973,895...131,986,797
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G |
Insl6 |
insulin-like 6 |
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ISO |
ClinVar Annotator: match by term: THROMBOCYTOSIS 3 | ClinVar Annotator: match by term: Thrombocythemia 3 |
ClinVar |
PMID:15781101 PMID:15793561 PMID:15858187 PMID:15920007 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:23535062 PMID:24404189 PMID:24728327 PMID:24986690 PMID:25043017 PMID:25157968 PMID:25671252 PMID:25741868 PMID:28492532 PMID:30811597 PMID:32581362 More...
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NCBI chr 1:227,069,958...227,073,493
Ensembl chr 1:227,069,958...227,073,493
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G |
Jak2 |
Janus kinase 2 |
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ISO |
ClinVar Annotator: match by term: THROMBOCYTOSIS 3 | ClinVar Annotator: match by term: Thrombocythemia 3 |
OMIM ClinVar |
PMID:15781101 PMID:15793561 PMID:15858187 PMID:15920007 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:23535062 PMID:24404189 PMID:24728327 PMID:24986690 PMID:25043017 PMID:25157968 PMID:25671252 PMID:25741868 PMID:28492532 PMID:30811597 PMID:32581362 More...
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NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189
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G |
Abcg5 |
ATP binding cassette subfamily G member 5 |
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ISO |
ClinVar Annotator: match by term: Thrombocytopenia |
ClinVar |
PMID:25741868 PMID:28492532 PMID:31064749 PMID:32088153 |
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NCBI chr 6:9,965,118...9,990,563
Ensembl chr 6:9,965,118...9,990,563
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G |
Abcg8 |
ATP binding cassette subfamily G member 8 |
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ISO |
ClinVar Annotator: match by term: Thrombocytopenia |
ClinVar |
PMID:25741868 PMID:28492532 PMID:31064749 |
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NCBI chr 6:9,945,629...9,964,912
Ensembl chr 6:9,945,629...9,964,912
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G |
Acbd5 |
acyl-CoA binding domain containing 5 |
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ISO |
ClinVar Annotator: match by term: Thrombocytopenia |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr17:85,206,178...85,248,909
Ensembl chr17:85,206,303...85,248,215
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G |
Actb |
actin, beta |
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ISO |
ClinVar Annotator: match by term: Thrombocytopenia |
ClinVar |
PMID:10411937 PMID:25741868 |
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NCBI chr12:11,663,112...11,666,697
Ensembl chr12:11,663,109...11,672,877
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G |
Actn1 |
actinin, alpha 1 |
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ISO |
ClinVar Annotator: match by term: Thrombocytopenia |
ClinVar |
PMID:23434115 PMID:24069336 PMID:25361813 PMID:25741868 PMID:28492532 PMID:30351444 PMID:31064749 PMID:31237726 PMID:32581362 More...
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NCBI chr 6:98,998,553...99,093,334
Ensembl chr 6:98,998,556...99,093,251
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G |
Acvrl1 |
activin A receptor like type 1 |
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ISO |
ClinVar Annotator: match by term: Thrombocytopenia |
ClinVar |
PMID:20501893 PMID:24033266 PMID:25741868 PMID:28492532 |
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NCBI chr 7:132,239,200...132,256,592
Ensembl chr 7:132,239,729...132,256,591
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G |
Alb |
albumin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:6734075 |
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NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836
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G |
Ankrd26 |
ankyrin repeat domain containing 26 |
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ISO |
ClinVar Annotator: match by term: Thrombocytopenia |
ClinVar |
PMID:10521306 PMID:20626622 PMID:21211618 PMID:21467542 PMID:23677566 PMID:24430186 PMID:25539746 PMID:25741868 PMID:25902755 PMID:26175287 PMID:26884589 PMID:28109976 PMID:28277066 PMID:28492532 PMID:28669401 PMID:30747248 PMID:31064749 PMID:32351539 PMID:32581362 PMID:32659145 PMID:34355501 More...
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NCBI chr 4:151,670,604...151,740,032
Ensembl chr 4:151,672,037...151,739,968
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G |
Aspg |
asparaginase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:2187653 |
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NCBI chr 6:131,176,727...131,196,268
Ensembl chr 6:131,176,874...131,196,268
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G |
Brip1 |
BRCA1 interacting helicase 1 |
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ISO |
human gene in a mouse model |
RGD |
PMID:15613547 |
RGD:11252148 |
NCBI chr10:70,907,266...71,031,502
Ensembl chr10:70,907,371...71,030,324
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G |
Cbr1 |
carbonyl reductase 1 |
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ISO |
ClinVar Annotator: match by term: Thrombocytopenia |
ClinVar |
PMID:32581362 |
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NCBI chr11:32,860,618...32,862,981
Ensembl chr11:32,908,950...32,911,393 Ensembl chr11:32,908,950...32,911,393
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G |
Cbr1l1 |
carbonyl reductase 1 like 1 |
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ISO |
ClinVar Annotator: match by term: Thrombocytopenia |
ClinVar |
PMID:32581362 |
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NCBI chr11:32,876,563...32,884,234
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G |
Ccl2 |
C-C motif chemokine ligand 2 |
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ISO |
associated with Lupus Erythematosus, Systemic;DNA:snp:promoter:g.-2518A>G (human) |
RGD |
PMID:20414371 |
RGD:11528535 |
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
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G |
Cd40lg |
CD40 ligand |
treatment |
ISO |
associated with Malaria |
RGD |
PMID:11865192 |
RGD:11352243 |
NCBI chr X:135,127,119...135,138,302
Ensembl chr X:135,126,969...135,138,306
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G |
Chek2 |
checkpoint kinase 2 |
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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:15087378 PMID:15095295 PMID:15122511 PMID:15466005 PMID:15492928 PMID:15520402 PMID:16257342 PMID:16492927 PMID:16880452 PMID:17085682 PMID:18172190 PMID:18759107 PMID:19338683 PMID:19768534 PMID:19805189 PMID:21779515 PMID:21807500 PMID:21876083 PMID:21956126 PMID:22006311 PMID:22058428 PMID:22419737 PMID:22811390 PMID:22994785 PMID:23329222 PMID:23415889 PMID:23469205 PMID:23652375 PMID:23946381 PMID:24033266 PMID:24713400 PMID:24723567 PMID:24884479 PMID:25431674 PMID:25583358 PMID:25741868 PMID:26084796 PMID:26332814 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:29146883 PMID:29351919 PMID:29489754 PMID:29522266 PMID:29909568 PMID:31300551 PMID:31993860 PMID:32119081 PMID:32285038 PMID:32295079 PMID:32383162 PMID:32531112 PMID:32805687 More...
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NCBI chr12:45,788,823...45,821,382
Ensembl chr12:45,788,827...45,821,286
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G |
Clic6 |
chloride intracellular channel 6 |
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ISO |
ClinVar Annotator: match by term: Thrombocytopenia |
ClinVar |
PMID:32581362 |
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NCBI chr11:31,737,813...31,780,360
Ensembl chr11:31,737,813...31,780,061
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G |
Col5a2 |
collagen type V alpha 2 chain |
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ISO |
ClinVar Annotator: match by term: Thrombocytopenia |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 9:47,448,736...47,598,396
Ensembl chr 9:47,448,736...47,598,154
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G |
Csf2 |
colony stimulating factor 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:8297739 |
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NCBI chr10:38,386,945...38,388,926
Ensembl chr10:38,386,945...38,389,199
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G |
Csf3 |
colony stimulating factor 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:7543699 PMID:12085204 |
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NCBI chr10:83,660,787...83,664,569
Ensembl chr10:83,661,207...83,663,603
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G |
Cycs |
cytochrome c, somatic |
no_association |
ISO |
DNA:transition mutation:exon:p.G41S(human) ClinVar Annotator: match by term: Thrombocytopenia CTD Direct Evidence: marker/mechanism |
ClinVar CTD RGD |
PMID:18345000 PMID:22102269 PMID:24326104 PMID:25741868 PMID:31064749 PMID:32581362 PMID:34355501 PMID:18345000 PMID:19172527 More...
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RGD:11352700, RGD:11352702 |
NCBI chr 4:79,651,894...79,653,994
Ensembl chr 4:79,651,378...79,654,054
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G |
Dync2li1 |
dynein cytoplasmic 2 light intermediate chain 1 |
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ISO |
ClinVar Annotator: match by term: Thrombocytopenia |
ClinVar |
PMID:25741868 PMID:28492532 PMID:31064749 PMID:32088153 |
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NCBI chr 6:9,992,537...10,025,403
Ensembl chr 6:9,992,541...10,025,336
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G |
Epo |
erythropoietin |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:8260696 |
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NCBI chr12:19,204,258...19,207,948
Ensembl chr12:19,204,508...19,207,946
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G |
Etv6 |
ETS variant transcription factor 6 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Thrombocytopenia |
CTD ClinVar |
PMID:25581430 PMID:25741868 PMID:25807284 PMID:26522332 PMID:27365488 PMID:28492532 PMID:31064749 PMID:32581362 More...
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NCBI chr 4:166,849,031...167,085,211
Ensembl chr 4:166,847,686...167,084,992
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G |
F10 |
coagulation factor X |
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ISO |
ClinVar Annotator: match by term: Thrombocytopenia |
ClinVar |
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NCBI chr16:76,468,834...76,488,141
Ensembl chr16:76,468,838...76,488,141
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G |
F7 |
coagulation factor VII |
treatment |
ISO |
human protein in a rat model |
RGD |
PMID:19175492 |
RGD:11049531 |
NCBI chr16:76,489,779...76,500,636
Ensembl chr16:76,489,717...76,500,610
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G |
Fcgr2a |
Fc gamma receptor 2A |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:11588041 PMID:10201963 |
RGD:11040944 |
NCBI chr13:83,280,782...83,297,535
Ensembl chr13:83,280,784...83,295,967
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G |
Fga |
fibrinogen alpha chain |
treatment |
IMP ISO |
ClinVar Annotator: match by term: Thrombocytopenia |
ClinVar RGD |
PMID:28492532 PMID:2005585 |
RGD:10755505 |
NCBI chr 2:168,365,364...168,381,533
Ensembl chr 2:168,374,120...168,381,528
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G |
Fgg |
fibrinogen gamma chain |
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ISO |
ClinVar Annotator: match by term: Thrombocytopenia |
ClinVar |
PMID:10688828 PMID:15795540 PMID:21228398 PMID:24033266 PMID:25741868 PMID:26105150 PMID:28211264 PMID:28492532 PMID:29240685 PMID:30349899 PMID:30431218 PMID:30487145 PMID:30632992 PMID:31064749 PMID:31295712 PMID:31479941 More...
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NCBI chr 2:168,354,880...168,362,325
Ensembl chr 2:168,355,013...168,362,322
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G |
Fli1 |
Fli-1 proto-oncogene, ETS transcription factor |
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ISO |
ClinVar Annotator: match by term: Thrombocytopenia |
ClinVar RGD |
PMID:24100448 PMID:32581362 PMID:15232614 |
RGD:1582490 |
NCBI chr 8:30,831,422...30,950,468
Ensembl chr 8:30,832,753...30,950,433
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G |
Flna |
filamin A |
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ISO |
ClinVar Annotator: match by term: Thrombocytopenia |
ClinVar |
PMID:25741868 PMID:26467025 PMID:28492532 PMID:30755392 |
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NCBI chr X:152,007,758...152,034,266
Ensembl chr X:152,007,758...152,031,052
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G |
Gata1 |
GATA binding protein 1 |
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ISO |
ClinVar Annotator: match by term: Thrombocytopenia CTD Direct Evidence: marker/mechanism |
ClinVar CTD RGD |
PMID:11418466 PMID:16966598 PMID:20301538 PMID:23278136 PMID:25741868 PMID:31064749 PMID:32581362 PMID:34355501 PMID:16966598 More...
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RGD:10450735 |
NCBI chr X:14,529,706...14,537,530
Ensembl chr X:14,529,702...14,537,530
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G |
Gba |
glucosylceramidase beta |
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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:8160756 PMID:8294487 PMID:8450045 PMID:8487270 PMID:8516282 PMID:9554746 PMID:9556036 PMID:10796875 PMID:12482401 PMID:14578207 PMID:14757438 PMID:15146461 PMID:15605411 PMID:15826241 PMID:16293621 PMID:17395504 PMID:17427031 PMID:17875915 PMID:18332251 PMID:18338393 PMID:18434642 PMID:18979180 PMID:18987351 PMID:19217815 PMID:19260119 PMID:19286695 PMID:19830760 PMID:19846850 PMID:19945510 PMID:20301446 PMID:20643691 PMID:20662857 PMID:20672374 PMID:20816920 PMID:20837833 PMID:20947659 PMID:20980259 PMID:20980263 PMID:21228398 PMID:21431620 PMID:21472771 PMID:21653695 PMID:21700325 PMID:21742527 PMID:21745757 PMID:22160715 PMID:22192918 PMID:22220748 PMID:22388998 PMID:22451204 PMID:22592100 PMID:22623374 PMID:22961873 PMID:22968580 PMID:22975760 PMID:22995991 PMID:23277556 PMID:23588557 PMID:23642305 PMID:23676350 PMID:24020503 PMID:24022302 PMID:24033266 PMID:24195576 PMID:24434810 PMID:24756352 PMID:25168325 PMID:25249066 PMID:25333069 PMID:25456120 PMID:25653295 PMID:25741868 PMID:26096741 PMID:26868973 PMID:26905200 PMID:27094865 PMID:27153395 PMID:27271787 PMID:27312774 PMID:27393345 PMID:27735925 PMID:27872820 PMID:28492532 PMID:28779532 PMID:28834018 PMID:28923368 PMID:28966932 PMID:29029963 PMID:29140481 PMID:29431110 PMID:29487000 PMID:29527153 PMID:29625627 PMID:29842932 PMID:30146349 PMID:30216542 PMID:30302829 PMID:30364808 PMID:30487145 PMID:30528841 PMID:30606667 PMID:30609409 PMID:31188768 PMID:31996268 PMID:32042592 PMID:32658388 PMID:32714263 PMID:33223529 PMID:33281709 PMID:33473340 More...
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NCBI chr 2:174,609,437...174,615,457
Ensembl chr 2:174,609,403...174,618,263
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G |
Gfi1b |
growth factor independent 1B transcriptional repressor |
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ISO |
ClinVar Annotator: match by term: Thrombocytopenia |
ClinVar |
PMID:25741868 PMID:31064749 |
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NCBI chr 3:11,940,232...11,952,989
Ensembl chr 3:11,940,233...11,952,942
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G |
Ggcx |
gamma-glutamyl carboxylase |
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ISO |
ClinVar Annotator: match by term: Thrombocytopenia |
ClinVar |
PMID:25741868 PMID:28492532 PMID:32935436 |
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NCBI chr 4:104,469,737...104,485,631
Ensembl chr 4:104,469,765...104,487,063
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G |
Gne |
glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase |
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ISO |
ClinVar Annotator: match by term: Thrombocytopenia |
ClinVar |
PMID:24796702 PMID:25741868 PMID:26980148 PMID:28320138 PMID:28492532 PMID:31064749 More...
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NCBI chr 5:58,267,189...58,307,396
Ensembl chr 5:58,267,210...58,307,499
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G |
Gp1ba |
glycoprotein Ib platelet subunit alpha |
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ISO |
ClinVar Annotator: match by term: Thrombocytopenia |
ClinVar RGD |
PMID:8384898 PMID:25741868 PMID:29082515 PMID:31064749 PMID:34355501 PMID:11001906 More...
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RGD:10450849 |
NCBI chr10:55,352,938...55,355,804
Ensembl chr10:55,352,899...55,356,774
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G |
Gp1bb |
glycoprotein Ib platelet subunit beta |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Thrombocytopenia |
CTD ClinVar |
PMID:10887115 PMID:15213848 PMID:25741868 PMID:31064749 PMID:32581362 PMID:34355501 More...
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NCBI chr11:82,378,216...82,379,393
Ensembl chr11:82,378,199...82,379,392
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G |
Gp9 |
glycoprotein IX (platelet) |
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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 More...
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NCBI chr 4:120,235,539...120,236,874
Ensembl chr 4:120,235,421...120,237,110
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G |
Ifnl3 |
interferon, lambda 3 |
treatment |
ISO |
associated with Hepatitis C, Chronic;DNA:SNP: :rs8099917(human) |
RGD |
PMID:24304453 |
RGD:11528555 |
NCBI chr 1:83,814,456...83,816,096
Ensembl chr 1:83,814,564...83,816,096
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G |
Il10 |
interleukin 10 |
severity |
ISO |
associated with Malaria, Vivax |
RGD |
PMID:25128199 PMID:11091188 |
RGD:11041893, RGD:11049172 |
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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G |
Il1b |
interleukin 1 beta |
treatment |
ISO |
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RGD |
PMID:1331350 |
RGD:10450883 |
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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G |
Il3 |
interleukin 3 |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:8202718 |
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NCBI chr10:38,405,716...38,408,066
Ensembl chr10:38,405,716...38,408,066
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G |
Il6 |
interleukin 6 |
severity |
ISO |
associated with Malaria, Vivax |
RGD |
PMID:25128199 |
RGD:11041893 |
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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G |
Itga2 |
integrin subunit alpha 2 |
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ISO |
associated with Hantavirus Infections;DNA:SNP: :807C>T (rs1126643) (human) |
RGD |
PMID:22133274 |
RGD:11530072 |
NCBI chr 2:46,520,345...46,621,487
Ensembl chr 2:46,523,948...46,621,481
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G |
Itga2b |
integrin subunit alpha 2b |
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ISO |
DNA:missense mutation: :p.R995W (human) ClinVar Annotator: match by term: Thrombocytopenia CTD Direct Evidence: marker/mechanism |
ClinVar CTD RGD |
PMID:1638023 PMID:9215749 PMID:9834222 PMID:15225244 PMID:18065693 PMID:19805198 PMID:20081061 PMID:21454453 PMID:22102273 PMID:25728920 PMID:25741868 PMID:25749862 PMID:25944497 PMID:27469266 PMID:28492532 PMID:29090484 PMID:31064749 PMID:31119735 PMID:32581362 PMID:33276370 PMID:21454453 More...
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RGD:10755467 |
NCBI chr10:87,408,532...87,426,055
Ensembl chr10:87,408,536...87,426,168
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G |
Itgb3 |
integrin subunit beta 3 |
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ISO |
DNA:splice-site mutation:intron:c.2134+1G>C (human) ClinVar Annotator: match by term: Thrombocytopenia CTD Direct Evidence: marker/mechanism |
ClinVar CTD RGD |
PMID:15225244 PMID:25741868 PMID:28492532 PMID:31064749 PMID:32581362 PMID:19336737 More...
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RGD:10755449 |
NCBI chr10:89,509,917...89,564,679
Ensembl chr10:89,509,989...89,564,679
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G |
Itpa |
inosine triphosphatase |
treatment |
ISO |
associated with Hepatitis C;DNA:missense mutation, splice-site mutaion:exon, intron:p.P32T (rs1127354), rs7270101 (human) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:18662289 PMID:24519039 |
RGD:10766473 |
NCBI chr 3:117,885,464...117,897,247
Ensembl chr 3:117,885,099...117,897,249
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G |
Kcne1 |
potassium voltage-gated channel subfamily E regulatory subunit 1 |
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ISO |
ClinVar Annotator: match by term: Thrombocytopenia |
ClinVar |
PMID:32581362 |
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NCBI chr11:31,580,951...31,594,116
Ensembl chr11:31,580,742...31,593,901
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G |
Kcne2 |
potassium voltage-gated channel subfamily E regulatory subunit 2 |
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ISO |
ClinVar Annotator: match by term: Thrombocytopenia |
ClinVar |
PMID:32581362 |
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NCBI chr11:31,517,176...31,530,026
Ensembl chr11:31,295,614...31,530,043
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G |
Mastl |
microtubule associated serine/threonine kinase-like |
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ISO |
ClinVar Annotator: match by term: Thrombocytopenia |
ClinVar RGD |
PMID:25741868 PMID:28492532 PMID:12890928 |
RGD:1598951 |
NCBI chr17:85,250,512...85,287,479
Ensembl chr17:85,251,997...85,287,353
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G |
Mbl2 |
mannose binding lectin 2 |
susceptibility |
ISO |
associated with Dengue;DNA:SNP:exon: |
RGD |
PMID:18361938 |
RGD:11530042 |
NCBI chr 1:228,016,439...228,024,736
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G |
Mcfd2 |
multiple coagulation factor deficiency 2 |
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ISO |
ClinVar Annotator: match by term: Thrombocytopenia |
ClinVar |
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NCBI chr 6:7,274,469...7,285,841
Ensembl chr 6:7,274,469...7,285,841
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G |
Mecom |
MDS1 and EVI1 complex locus |
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ISO |
ClinVar Annotator: match by term: Thrombocytopenia |
ClinVar |
PMID:32581362 |
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NCBI chr 2:112,909,353...113,464,583
Ensembl chr 2:112,909,321...113,464,590
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G |
Mpl |
MPL proto-oncogene, thrombopoietin receptor |
ameliorates |
IEP ISO |
protein:decreased expression:blood, platelet (rat) ClinVar Annotator: match by term: Thrombocytopenia associated with End Stage Liver Disease congenital amegakaryocytic thrombocytopenia, OMIM:604498, DNA:point mutation:Q186X, frameshift:1499delT associated with Lupus Erythematosus, Systemic |
ClinVar RGD |
PMID:971406 PMID:8073287 PMID:10971406 PMID:11133753 PMID:11972523 PMID:16199547 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:15670044 PMID:32841939 PMID:10077649 PMID:12209520 PMID:8630375 More...
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RGD:10448997, RGD:126925754, RGD:1600454, RGD:10449011, RGD:10449017 |
NCBI chr 5:131,973,897...131,987,472
Ensembl chr 5:131,973,895...131,986,797
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G |
Mrps6 |
mitochondrial ribosomal protein S6 |
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ISO |
ClinVar Annotator: match by term: Thrombocytopenia |
ClinVar |
PMID:32581362 |
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NCBI chr11:31,295,358...31,348,483
Ensembl chr11:31,295,614...31,348,484
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G |
Mthfr |
methylenetetrahydrofolate reductase |
no_association |
ISO |
associated with Precursor Cell Lymphoblastic Leukemia-Lymphoma;DNA:SNP: :677C>T, 1793G>A (human) CTD Direct Evidence: marker/mechanism associated with Precursor Cell Lymphoblastic Leukemia-Lymphoma;DNA:SNP: :1298A>C (human) |
CTD RGD |
PMID:19391036 PMID:23498762 PMID:23498762 |
RGD:10449418, RGD:10449418 |
NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
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G |
Myh9 |
myosin, heavy chain 9 |
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ISO |
May-Hegglin anomaly, OMIM:155100, DNA:point mutation:exon:R1933X ClinVar Annotator: match by term: Thrombocytopenia |
ClinVar RGD |
PMID:1449176 PMID:10973259 PMID:11159552 PMID:11590545 PMID:11776386 PMID:12533692 PMID:12621333 PMID:12649151 PMID:12792306 PMID:15339844 PMID:16098078 PMID:16162639 PMID:17655694 PMID:18059020 PMID:21542825 PMID:22627578 PMID:23207509 PMID:24186861 PMID:25741868 PMID:26056797 PMID:28492532 PMID:29090586 PMID:30916803 PMID:31064749 PMID:32100410 PMID:32545517 PMID:34355501 PMID:10973259 More...
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RGD:1600553 |
NCBI chr 7:109,343,718...109,424,457
Ensembl chr 7:109,343,706...109,424,457
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G |
Nsd2 |
nuclear receptor binding SET domain protein 2 |
|
ISO |
ClinVar Annotator: match by term: Thrombocytopenia |
ClinVar |
PMID:25741868 |
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NCBI chr14:76,833,194...76,911,304
Ensembl chr14:76,835,637...76,913,641
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G |
P2ry12 |
purinergic receptor P2Y12 |
|
ISO |
associated with Thrombosis |
RGD |
PMID:21652673 |
RGD:6480523 |
NCBI chr 2:143,481,468...143,523,340
Ensembl chr 2:143,481,430...143,523,361
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G |
Pecam1 |
platelet and endothelial cell adhesion molecule 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10848805 |
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NCBI chr10:91,590,521...91,652,279
Ensembl chr10:91,590,521...91,652,116
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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 More...
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NCBI chr14:17,298,438...17,299,148
Ensembl chr14:17,298,308...17,299,365
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Ptpn11 |
protein tyrosine phosphatase, non-receptor type 11 |
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ISO |
ClinVar Annotator: match by term: Thrombocytopenia |
ClinVar |
PMID:4746100 PMID:11704759 PMID:11992261 PMID:12161469 PMID:12634870 PMID:12717436 PMID:12960218 PMID:13908956 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:19061217 PMID:19077116 PMID:19133693 PMID:19352411 PMID:19509418 PMID:20301303 PMID:20308328 PMID:20979190 PMID:21340158 PMID:21407260 PMID:21533187 PMID:21567923 PMID:21590266 PMID:22190897 PMID:22465605 PMID:23297836 PMID:23726368 PMID:24033266 PMID:24072241 PMID:24628801 PMID:24803665 PMID:24935154 PMID:25326637 PMID:25741868 PMID:25912702 PMID:26372199 PMID:26467025 PMID:26645620 PMID:26785492 PMID:26817465 PMID:26918529 PMID:27117572 PMID:27521173 PMID:28135719 PMID:28483241 PMID:28492532 PMID:28650561 PMID:28957739 PMID:28991257 PMID:29214238 PMID:29263817 PMID:29493581 PMID:29848529 PMID:29907801 PMID:30287924 PMID:30294303 PMID:30355600 PMID:30417923 PMID:30604644 PMID:31219622 PMID:31560489 PMID:31637070 PMID:32581362 PMID:32860008 PMID:33091040 PMID:34008892 More...
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NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925
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Rcan1 |
regulator of calcineurin 1 |
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ISO |
ClinVar Annotator: match by term: Thrombocytopenia |
ClinVar |
PMID:32581362 |
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NCBI chr11:31,622,208...31,702,150
Ensembl chr11:31,622,210...31,702,045
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Runx1 |
RUNX family transcription factor 1 |
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ISO |
ClinVar Annotator: match by term: Thrombocytopenia |
ClinVar RGD |
PMID:10068652 PMID:10508512 PMID:10973259 PMID:11830488 PMID:12002768 PMID:16199547 PMID:17485549 PMID:17650443 PMID:18723428 PMID:19357396 PMID:22012064 PMID:22318203 PMID:23751892 PMID:24100448 PMID:25741868 PMID:25840971 PMID:26316320 PMID:27112265 PMID:27418648 PMID:27479822 PMID:27931139 PMID:28102861 PMID:28240786 PMID:28492532 PMID:31064749 PMID:31698193 PMID:32098966 PMID:32208489 PMID:32581362 PMID:32935436 PMID:15784726 More...
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RGD:11251691 |
NCBI chr11:31,839,880...32,074,427
Ensembl chr11:31,843,764...32,074,542
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Setd4 |
SET domain containing 4 |
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ISO |
ClinVar Annotator: match by term: Thrombocytopenia |
ClinVar |
PMID:32581362 |
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NCBI chr11:32,829,509...32,859,162
Ensembl chr11:32,838,063...32,858,243
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Slc4a1 |
solute carrier family 4 member 1 (Diego blood group) |
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ISO |
mRNA:decreased expression:erythrocyte (mouse) |
RGD |
PMID:22279059 |
RGD:10450520 |
NCBI chr10:87,306,865...87,323,132
Ensembl chr10:87,306,872...87,323,117
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Slc5a3 |
solute carrier family 5 member 3 |
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ISO |
ClinVar Annotator: match by term: Thrombocytopenia |
ClinVar |
PMID:32581362 |
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NCBI chr11:31,313,847...31,316,293
Ensembl chr11:31,295,476...31,318,883
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Smim11 |
small integral membrane protein 11 |
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ISO |
ClinVar Annotator: match by term: Thrombocytopenia |
ClinVar |
PMID:32581362 |
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NCBI chr11:31,533,257...31,543,002
Ensembl chr11:31,532,764...31,543,002
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Sparc |
secreted protein acidic and cysteine rich |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27725143 |
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NCBI chr10:39,516,394...39,538,252
Ensembl chr10:39,516,406...39,538,396
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Tbxa2r |
thromboxane A2 receptor |
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IMP |
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RGD |
PMID:2528013 |
RGD:11059527 |
NCBI chr 7:8,383,347...8,390,753
Ensembl chr 7:8,383,378...8,388,176
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Tgfb1 |
transforming growth factor, beta 1 |
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ISO |
protein:decreased expression:plasma: |
RGD |
PMID:22134166 |
RGD:11073617 |
NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
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Thbd |
thrombomodulin |
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ISO |
ClinVar Annotator: match by term: Thrombocytopenia |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 3:135,863,366...135,867,018
Ensembl chr 3:135,862,835...135,867,193
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Thpo |
thrombopoietin |
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ISO |
ClinVar Annotator: match by term: Thrombocytopenia |
ClinVar |
PMID:25741868 PMID:28466964 PMID:31064749 PMID:32150607 |
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Ensembl chr11:80,182,820...80,188,167
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Tnf |
tumor necrosis factor |
severity |
ISO |
associated with Malaria, Vivax associated with Hemorrhagic Fever with Renal Syndrome;DNA:SNP:promoter:-238G>A (human) |
RGD |
PMID:25128199 PMID:16987073 |
RGD:11041893, RGD:10449459 |
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Tnfrsf10b |
TNF receptor superfamily member 10b |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19652058 |
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NCBI chr15:44,839,818...44,867,582
Ensembl chr15:44,840,386...44,867,467
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Tubb1 |
tubulin, beta 1 class VI |
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ISO |
ClinVar Annotator: match by term: Thrombocytopenia |
ClinVar |
PMID:24777453 PMID:25741868 PMID:27346686 PMID:28054583 PMID:28492532 PMID:31064749 PMID:31249973 PMID:32757236 PMID:34516618 More...
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NCBI chr 3:163,247,990...163,257,460
Ensembl chr 3:163,247,967...163,256,063
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Vwf |
von Willebrand factor |
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ISO |
ClinVar Annotator: match by term: Thrombocytopenia |
ClinVar |
PMID:16985174 PMID:18315556 PMID:19506361 PMID:25741868 PMID:31064749 |
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NCBI chr 4:158,360,152...158,491,539
Ensembl chr 4:158,360,152...158,491,539
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Was |
WASP actin nucleation promoting factor |
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ISO |
ClinVar Annotator: match by term: Thrombocytopenia |
ClinVar |
PMID:7753869 PMID:8666397 PMID:8757563 PMID:9326235 PMID:11167787 PMID:12969986 PMID:15284122 PMID:19817875 PMID:20546529 PMID:21185603 PMID:23160469 PMID:25741868 PMID:27885891 PMID:28492532 PMID:28641574 PMID:31064749 More...
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NCBI chr X:14,405,096...14,413,850
Ensembl chr X:14,405,124...14,413,849
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Wdr1 |
WD repeat domain 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17515402 |
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NCBI chr14:72,258,032...72,291,768
Ensembl chr14:72,257,956...72,291,766
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Xdh |
xanthine dehydrogenase |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Thrombocytopenia |
CTD ClinVar |
PMID:2510358 PMID:25741868 PMID:28492532 PMID:30755392 |
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NCBI chr 6:21,530,463...21,592,172
Ensembl chr 6:21,530,113...21,592,268
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Gata1 |
GATA binding protein 1 |
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ISO |
associated with Beta-Thalassemia;DNA:missense mutation: :p.R216Q (human) |
RGD |
PMID:12200364 |
RGD:10450747 |
NCBI chr X:14,529,706...14,537,530
Ensembl chr X:14,529,702...14,537,530
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Was |
WASP actin nucleation promoting factor |
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ISO |
ClinVar Annotator: match by term: Thrombocytopenia 1 |
OMIM ClinVar |
PMID:7753869 PMID:7795648 PMID:8528198 PMID:8595430 PMID:8666397 PMID:8757563 PMID:8931701 PMID:9126958 PMID:9326235 PMID:9536098 PMID:10447259 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:17400488 PMID:17576681 PMID:17703096 PMID:19308710 PMID:19817875 PMID:19863535 PMID:20173115 PMID:20546529 PMID:21185603 PMID:22038941 PMID:23023736 PMID:23160469 PMID:24210885 PMID:24728327 PMID:25741868 PMID:26261240 PMID:28492532 PMID:28641574 PMID:31064749 More...
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NCBI chr X:14,405,096...14,413,850
Ensembl chr X:14,405,124...14,413,849
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Acbd5 |
acyl-CoA binding domain containing 5 |
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ISO |
ClinVar Annotator: match by term: Thrombocytopenia 2 |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr17:85,206,178...85,248,909
Ensembl chr17:85,206,303...85,248,215
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Ankrd26 |
ankyrin repeat domain containing 26 |
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ISO |
ClinVar Annotator: match by term: Thrombocytopenia 2 DNA:mutations:5'utr: |
OMIM ClinVar RGD |
PMID:10521306 PMID:17666371 PMID:20626622 PMID:21211618 PMID:23677566 PMID:24430186 PMID:25539746 PMID:25741868 PMID:25902755 PMID:26175287 PMID:26884589 PMID:28100250 PMID:28277066 PMID:28492532 PMID:29185836 PMID:29545013 PMID:30747248 PMID:31064749 PMID:32581362 PMID:32659145 PMID:34355501 PMID:21467542 More...
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RGD:9681743 |
NCBI chr 4:151,670,604...151,740,032
Ensembl chr 4:151,672,037...151,739,968
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Mastl |
microtubule associated serine/threonine kinase-like |
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ISO |
ClinVar Annotator: match by term: Thrombocytopenia 2 |
ClinVar |
PMID:10891439 PMID:12890928 PMID:19460416 PMID:22102272 PMID:25741868 PMID:28492532 More...
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NCBI chr17:85,250,512...85,287,479
Ensembl chr17:85,251,997...85,287,353
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Fyb1 |
FYN binding protein 1 |
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ISO |
ClinVar Annotator: match by term: Thrombocytopenia 3 |
OMIM ClinVar |
PMID:25741868 PMID:25876182 |
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NCBI chr 2:55,621,585...55,781,206
Ensembl chr 2:55,632,698...55,779,629
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Cycs |
cytochrome c, somatic |
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ISO |
DNA:mutation:cds:c.145T>C(p.Y48H)(human) ClinVar Annotator: match by term: Thrombocytopenia 4 |
OMIM ClinVar RGD |
PMID:18345000 PMID:22102269 PMID:24326104 PMID:25741868 PMID:28492532 PMID:30051457 PMID:31064749 PMID:34355501 PMID:24326104 More...
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RGD:11352699 |
NCBI chr 4:79,651,894...79,653,994
Ensembl chr 4:79,651,378...79,654,054
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Etv6 |
ETS variant transcription factor 6 |
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ISO |
ClinVar Annotator: match by term: Thrombocytopenia 5 |
OMIM ClinVar |
PMID:9694803 PMID:15806161 PMID:17988997 PMID:18305557 PMID:21680795 PMID:21714648 PMID:24904105 PMID:24997145 PMID:25581430 PMID:25741868 PMID:25807284 PMID:26102509 PMID:26522332 PMID:27365488 PMID:27895058 PMID:28492532 PMID:29365323 PMID:31064749 PMID:31248877 PMID:31704777 PMID:32693409 PMID:33179473 PMID:33226740 PMID:33768492 PMID:34355501 More...
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NCBI chr 4:166,849,031...167,085,211
Ensembl chr 4:166,847,686...167,084,992
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Src |
SRC proto-oncogene, non-receptor tyrosine kinase |
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ISO |
ClinVar Annotator: match by term: Thrombocytopenia 6 |
OMIM ClinVar |
PMID:25741868 PMID:26936507 PMID:32581362 |
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NCBI chr 3:146,091,969...146,139,492
Ensembl chr 3:146,091,841...146,139,476
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Agxt |
alanine--glyoxylate aminotransferase |
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ISO |
Hyperoxaluria, primary, type I (Oxalosis I) |
OMIA |
PMID:1672096 PMID:2394849 PMID:22486513 |
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NCBI chr 9:93,675,384...93,685,337
Ensembl chr 9:93,675,384...93,685,336
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Ikzf5 |
IKAROS family zinc finger 5 |
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ISO |
ClinVar Annotator: match by term: Thrombocytopenia 7 |
OMIM ClinVar |
PMID:25741868 PMID:31217188 PMID:32419556 |
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NCBI chr 1:186,169,108...186,188,847
Ensembl chr 1:186,170,788...186,188,834
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Fcgr3a |
Fc gamma receptor 3A |
treatment |
ISO |
DNA:SNP:cds: |
RGD |
PMID:22775462 |
RGD:11040770 |
NCBI chr13:83,249,905...83,259,921
Ensembl chr13:83,249,872...83,259,921
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Mpig6b |
megakaryocyte and platelet inhibitory receptor G6b |
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ISO |
ClinVar Annotator: match by term: Thrombocytopenia, anemia, and myelofibrosis |
OMIM ClinVar |
PMID:25741868 PMID:27743390 |
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NCBI chr20:3,757,396...3,761,024
Ensembl chr20:3,757,536...3,760,735
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Acp6 |
acid phosphatase 6, lysophosphatidic |
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ISO |
ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome | ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome |
ClinVar |
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NCBI chr 2:184,711,975...184,733,067
Ensembl chr 2:184,711,619...184,733,017
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Ankrd34a |
ankyrin repeat domain 34A |
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ISO |
ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome |
ClinVar |
PMID:17236129 PMID:22366785 PMID:22581968 PMID:24220582 PMID:26233629 PMID:27846804 PMID:28129423 PMID:28492532 More...
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NCBI chr 2:184,129,830...184,135,075
Ensembl chr 2:184,129,238...184,135,116
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Ankrd35 |
ankyrin repeat domain 35 |
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ISO |
ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome |
ClinVar |
PMID:17236129 PMID:22366785 PMID:22581968 PMID:24220582 PMID:26233629 PMID:27846804 PMID:28129423 PMID:28492532 More...
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NCBI chr 2:184,207,076...184,227,063
Ensembl chr 2:184,207,071...184,227,063
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Bcl9 |
BCL9, transcription coactivator |
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ISO |
ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome | ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome |
ClinVar |
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NCBI chr 2:184,760,616...184,846,261
Ensembl chr 2:184,760,618...184,786,435
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Cd160 |
CD160 molecule |
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ISO |
ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome |
ClinVar |
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NCBI chr 2:184,340,820...184,383,421
Ensembl chr 2:184,340,599...184,375,834
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Chd1l |
chromodomain helicase DNA binding protein 1-like |
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ISO |
ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome | ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome |
ClinVar |
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NCBI chr 2:185,138,526...185,217,498
Ensembl chr 2:185,139,308...185,217,595
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G |
Fmo5 |
flavin containing dimethylaniline monoxygenase 5 |
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ISO |
ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome | ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome |
ClinVar |
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