RGD DISEASE ONTOLOGY - ANNOTATIONS
RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
G
Abcg5
ATP binding cassette subfamily G member 5
ISO
ClinVar Annotator: match by term: Thrombocytopenia
ClinVar
PMID:25741868 PMID:28492532 PMID:31064749 PMID:32088153
NCBI chr 6:9,965,118...9,990,563
Ensembl chr 6:9,965,118...9,990,563
G
Abcg8
ATP binding cassette subfamily G member 8
ISO
ClinVar Annotator: match by term: Thrombocytopenia
ClinVar
PMID:25741868 PMID:28492532 PMID:31064749
NCBI chr 6:9,945,629...9,964,912
Ensembl chr 6:9,945,629...9,964,912
G
Acbd5
acyl-CoA binding domain containing 5
ISO
ClinVar Annotator: match by term: Thrombocytopenia
ClinVar
PMID:25741868 PMID:28492532
NCBI chr17:85,206,178...85,248,909
Ensembl chr17:85,206,303...85,248,215
G
Actb
actin, beta
ISO
ClinVar Annotator: match by term: Thrombocytopenia
ClinVar
PMID:10411937 PMID:25741868
NCBI chr12:11,663,112...11,666,697
Ensembl chr12:11,663,109...11,672,877
G
Actn1
actinin, alpha 1
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...
NCBI chr 6:98,998,553...99,093,334
Ensembl chr 6:98,998,556...99,093,251
G
Acvrl1
activin A receptor like type 1
ISO
ClinVar Annotator: match by term: Thrombocytopenia
ClinVar
PMID:20501893 PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr 7:132,239,200...132,256,592
Ensembl chr 7:132,239,729...132,256,591
G
Alb
albumin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:6734075
NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836
G
Ankrd26
ankyrin repeat domain containing 26
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...
NCBI chr 4:151,670,604...151,740,032
Ensembl chr 4:151,672,037...151,739,968
G
Aspg
asparaginase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:2187653
NCBI chr 6:131,176,727...131,196,268
Ensembl chr 6:131,176,874...131,196,268
G
Brip1
BRCA1 interacting helicase 1
ISO
human gene in a mouse model
RGD
PMID:15613547
RGD:11252148
NCBI chr10:70,907,266...71,031,502
Ensembl chr10:70,907,371...71,030,324
G
Cbr1
carbonyl reductase 1
ISO
ClinVar Annotator: match by term: Thrombocytopenia
ClinVar
PMID:32581362
NCBI chr11:32,860,618...32,862,981
Ensembl chr11:32,908,950...32,911,393 Ensembl chr11:32,908,950...32,911,393
G
Cbr1l1
carbonyl reductase 1 like 1
ISO
ClinVar Annotator: match by term: Thrombocytopenia
ClinVar
PMID:32581362
NCBI chr11:32,876,563...32,884,234
G
Ccl2
C-C motif chemokine ligand 2
ISO
associated with Lupus Erythematosus, Systemic;DNA:snp:promoter:g.-2518A>G (human)
RGD
PMID:20414371
RGD:11528535
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
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
G
Chek2
checkpoint kinase 2
ISO
ClinVar Annotator: match by term: Thrombocytopenia
ClinVar
PMID:10617473 PMID:11053450 PMID:11479205 PMID:11719428 PMID:11967536 PMID:12094328 PMID:12533788 PMID:12690581 PMID: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...
NCBI chr12:45,788,823...45,821,382
Ensembl chr12:45,788,827...45,821,286
G
Clic6
chloride intracellular channel 6
ISO
ClinVar Annotator: match by term: Thrombocytopenia
ClinVar
PMID:32581362
NCBI chr11:31,737,813...31,780,360
Ensembl chr11:31,737,813...31,780,061
G
Col5a2
collagen type V alpha 2 chain
ISO
ClinVar Annotator: match by term: Thrombocytopenia
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 9:47,448,736...47,598,396
Ensembl chr 9:47,448,736...47,598,154
G
Csf2
colony stimulating factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8297739
NCBI chr10:38,386,945...38,388,926
Ensembl chr10:38,386,945...38,389,199
G
Csf3
colony stimulating factor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:7543699 PMID:12085204
NCBI chr10:83,660,787...83,664,569
Ensembl chr10:83,661,207...83,663,603
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...
RGD:11352700 , RGD:11352702
NCBI chr 4:79,651,894...79,653,994
Ensembl chr 4:79,651,378...79,654,054
G
Dync2li1
dynein cytoplasmic 2 light intermediate chain 1
ISO
ClinVar Annotator: match by term: Thrombocytopenia
ClinVar
PMID:25741868 PMID:28492532 PMID:31064749 PMID:32088153
NCBI chr 6:9,992,537...10,025,403
Ensembl chr 6:9,992,541...10,025,336
G
Epo
erythropoietin
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:8260696
NCBI chr12:19,204,258...19,207,948
Ensembl chr12:19,204,508...19,207,946
G
Etv6
ETS variant transcription factor 6
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...
NCBI chr 4:166,849,031...167,085,211
Ensembl chr 4:166,847,686...167,084,992
G
F10
coagulation factor X
ISO
ClinVar Annotator: match by term: Thrombocytopenia
ClinVar
NCBI chr16:76,468,834...76,488,141
Ensembl chr16:76,468,838...76,488,141
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
G
Fcgr2a
Fc gamma receptor 2A
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
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
G
Fgg
fibrinogen gamma chain
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...
NCBI chr 2:168,354,880...168,362,325
Ensembl chr 2:168,355,013...168,362,322
G
Fli1
Fli-1 proto-oncogene, ETS transcription factor
ISO
ClinVar Annotator: match by term: Thrombocytopenia
ClinVar RGD
PMID:24100448 PMID:32581362 PMID:15232614
RGD:1582490
NCBI chr 8:30,831,422...30,950,468
Ensembl chr 8:30,832,753...30,950,433
G
Flna
filamin A
ISO
ClinVar Annotator: match by term: Thrombocytopenia
ClinVar
PMID:25741868 PMID:26467025 PMID:28492532 PMID:30755392
NCBI chr X:152,007,758...152,034,266
Ensembl chr X:152,007,758...152,031,052
G
Gata1
GATA binding protein 1
ISO
ClinVar Annotator: match by term: Thrombocytopenia CTD Direct Evidence: marker/mechanism
ClinVar CTD RGD
PMID:11418466 PMID:16966598 PMID:20301538 PMID:23278136 PMID:25741868 PMID:31064749 PMID:32581362 PMID:34355501 PMID:16966598 More...
RGD:10450735
NCBI chr X:14,529,706...14,537,530
Ensembl chr X:14,529,702...14,537,530
G
Gba
glucosylceramidase beta
ISO
ClinVar Annotator: match by term: Thrombocytopenia
ClinVar
PMID:1348297 PMID:1897529 PMID:1899336 PMID:1971142 PMID:2117855 PMID:2309702 PMID:2569551 PMID:3353383 PMID:7789963 PMID: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...
NCBI chr 2:174,609,437...174,615,457
Ensembl chr 2:174,609,403...174,618,263
G
Gfi1b
growth factor independent 1B transcriptional repressor
ISO
ClinVar Annotator: match by term: Thrombocytopenia
ClinVar
PMID:25741868 PMID:31064749
NCBI chr 3:11,940,232...11,952,989
Ensembl chr 3:11,940,233...11,952,942
G
Ggcx
gamma-glutamyl carboxylase
ISO
ClinVar Annotator: match by term: Thrombocytopenia
ClinVar
PMID:25741868 PMID:28492532 PMID:32935436
NCBI chr 4:104,469,737...104,485,631
Ensembl chr 4:104,469,765...104,487,063
G
Gne
glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
ISO
ClinVar Annotator: match by term: Thrombocytopenia
ClinVar
PMID:24796702 PMID:25741868 PMID:26980148 PMID:28320138 PMID:28492532 PMID:31064749 More...
NCBI chr 5:58,267,189...58,307,396
Ensembl chr 5:58,267,210...58,307,499
G
Gp1ba
glycoprotein Ib platelet subunit alpha
ISO
ClinVar Annotator: match by term: Thrombocytopenia
ClinVar RGD
PMID:8384898 PMID:25741868 PMID:29082515 PMID:31064749 PMID:34355501 PMID:11001906 More...
RGD:10450849
NCBI chr10:55,352,938...55,355,804
Ensembl chr10:55,352,899...55,356,774
G
Gp1bb
glycoprotein Ib platelet subunit beta
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Thrombocytopenia
CTD ClinVar
PMID:10887115 PMID:15213848 PMID:25741868 PMID:31064749 PMID:32581362 PMID:34355501 More...
NCBI chr11:82,378,216...82,379,393
Ensembl chr11:82,378,199...82,379,392
G
Gp9
glycoprotein IX (platelet)
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Thrombocytopenia
CTD ClinVar
PMID:8049428 PMID:8481514 PMID:14510954 PMID:15225244 PMID:25370924 PMID:25741868 PMID:28131619 PMID:28492532 PMID:28765788 PMID:31064749 More...
NCBI chr 4:120,235,539...120,236,874
Ensembl chr 4:120,235,421...120,237,110
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
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
G
Il1b
interleukin 1 beta
treatment
ISO
RGD
PMID:1331350
RGD:10450883
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
G
Il3
interleukin 3
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:8202718
NCBI chr10:38,405,716...38,408,066
Ensembl chr10:38,405,716...38,408,066
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
G
Itga2
integrin subunit alpha 2
ISO
associated with Hantavirus Infections;DNA:SNP: :807C>T (rs1126643) (human)
RGD
PMID:22133274
RGD:11530072
NCBI chr 2:46,520,345...46,621,487
Ensembl chr 2:46,523,948...46,621,481
G
Itga2b
integrin subunit alpha 2b
ISO
DNA:missense mutation: :p.R995W (human) ClinVar Annotator: match by term: Thrombocytopenia CTD Direct Evidence: marker/mechanism
ClinVar CTD RGD
PMID:1638023 PMID: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...
RGD:10755467
NCBI chr10:87,408,532...87,426,055
Ensembl chr10:87,408,536...87,426,168
G
Itgb3
integrin subunit beta 3
ISO
DNA:splice-site mutation:intron:c.2134+1G>C (human) ClinVar Annotator: match by term: Thrombocytopenia CTD Direct Evidence: marker/mechanism
ClinVar CTD RGD
PMID:15225244 PMID:25741868 PMID:28492532 PMID:31064749 PMID:32581362 PMID:19336737 More...
RGD:10755449
NCBI chr10:89,509,917...89,564,679
Ensembl chr10:89,509,989...89,564,679
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
G
Kcne1
potassium voltage-gated channel subfamily E regulatory subunit 1
ISO
ClinVar Annotator: match by term: Thrombocytopenia
ClinVar
PMID:32581362
NCBI chr11:31,580,951...31,594,116
Ensembl chr11:31,580,742...31,593,901
G
Kcne2
potassium voltage-gated channel subfamily E regulatory subunit 2
ISO
ClinVar Annotator: match by term: Thrombocytopenia
ClinVar
PMID:32581362
NCBI chr11:31,517,176...31,530,026
Ensembl chr11:31,295,614...31,530,043
G
Mastl
microtubule associated serine/threonine kinase-like
ISO
ClinVar Annotator: match by term: Thrombocytopenia
ClinVar RGD
PMID:25741868 PMID:28492532 PMID:12890928
RGD:1598951
NCBI chr17:85,250,512...85,287,479
Ensembl chr17:85,251,997...85,287,353
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
G
Mcfd2
multiple coagulation factor deficiency 2
ISO
ClinVar Annotator: match by term: Thrombocytopenia
ClinVar
NCBI chr 6:7,274,469...7,285,841
Ensembl chr 6:7,274,469...7,285,841
G
Mecom
MDS1 and EVI1 complex locus
ISO
ClinVar Annotator: match by term: Thrombocytopenia
ClinVar
PMID:32581362
NCBI chr 2:112,909,353...113,464,583
Ensembl chr 2:112,909,321...113,464,590
G
Mpl
MPL proto-oncogene, thrombopoietin receptor
ameliorates
ISO IEP
congenital amegakaryocytic thrombocytopenia, OMIM:604498, DNA:point mutation:Q186X, frameshift:1499delT ClinVar Annotator: match by term: Thrombocytopenia associated with End Stage Liver Disease associated with Lupus Erythematosus, Systemic protein:decreased expression:blood, platelet (rat)
ClinVar RGD
PMID: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:10077649 PMID:32841939 PMID:8630375 PMID:12209520 PMID:15670044 More...
RGD:1600454 , RGD:126925754 , RGD:10449017 , RGD:10449011 , RGD:10448997
NCBI chr 5:131,973,897...131,987,472
Ensembl chr 5:131,973,895...131,986,797
G
Mrps6
mitochondrial ribosomal protein S6
ISO
ClinVar Annotator: match by term: Thrombocytopenia
ClinVar
PMID:32581362
NCBI chr11:31,295,358...31,348,483
Ensembl chr11:31,295,614...31,348,484
G
Mthfr
methylenetetrahydrofolate reductase
no_association
ISO
associated with Precursor Cell Lymphoblastic Leukemia-Lymphoma;DNA:SNP: :1298A>C (human) CTD Direct Evidence: marker/mechanism associated with Precursor Cell Lymphoblastic Leukemia-Lymphoma;DNA:SNP: :677C>T, 1793G>A (human)
CTD RGD
PMID:19391036 PMID:23498762 PMID:23498762
RGD:10449418 , RGD:10449418
NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
G
Myh9
myosin, heavy chain 9
ISO
May-Hegglin anomaly, OMIM:155100, DNA:point mutation:exon:R1933X ClinVar Annotator: match by term: Thrombocytopenia
ClinVar RGD
PMID:1449176 PMID: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...
RGD:1600553
NCBI chr 7:109,343,718...109,424,457
Ensembl chr 7:109,343,706...109,424,457
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Nsd2
nuclear receptor binding SET domain protein 2
ISO
ClinVar Annotator: match by term: Thrombocytopenia
ClinVar
PMID:25741868
NCBI chr14:76,833,194...76,911,304
Ensembl chr14:76,835,637...76,913,641
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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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Pecam1
platelet and endothelial cell adhesion molecule 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10848805
NCBI chr10:91,590,521...91,652,279
Ensembl chr10:91,590,521...91,652,116
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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...
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
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...
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
ISO
ClinVar Annotator: match by term: Thrombocytopenia
ClinVar
PMID:32581362
NCBI chr11:31,622,208...31,702,150
Ensembl chr11:31,622,210...31,702,045
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Runx1
RUNX family transcription factor 1
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...
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
ISO
ClinVar Annotator: match by term: Thrombocytopenia
ClinVar
PMID:32581362
NCBI chr11:32,829,509...32,859,162
Ensembl chr11:32,838,063...32,858,243
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Slc4a1
solute carrier family 4 member 1 (Diego blood group)
ISO
mRNA:decreased expression:erythrocyte (mouse)
RGD
PMID:22279059
RGD:10450520
NCBI chr10:87,306,865...87,323,132
Ensembl chr10:87,306,872...87,323,117
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Slc5a3
solute carrier family 5 member 3
ISO
ClinVar Annotator: match by term: Thrombocytopenia
ClinVar
PMID:32581362
NCBI chr11:31,313,847...31,316,293
Ensembl chr11:31,295,476...31,318,883
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Smim11
small integral membrane protein 11
ISO
ClinVar Annotator: match by term: Thrombocytopenia
ClinVar
PMID:32581362
NCBI chr11:31,533,257...31,543,002
Ensembl chr11:31,532,764...31,543,002
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Sparc
secreted protein acidic and cysteine rich
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27725143
NCBI chr10:39,516,394...39,538,252
Ensembl chr10:39,516,406...39,538,396
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Tbxa2r
thromboxane A2 receptor
IMP
RGD
PMID:2528013
RGD:11059527
NCBI chr 7:8,383,347...8,390,753
Ensembl chr 7:8,383,378...8,388,176
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Tgfb1
transforming growth factor, beta 1
ISO
protein:decreased expression:plasma:
RGD
PMID:22134166
RGD:11073617
NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
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Thbd
thrombomodulin
ISO
ClinVar Annotator: match by term: Thrombocytopenia
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 3:135,863,366...135,867,018
Ensembl chr 3:135,862,835...135,867,193
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Thpo
thrombopoietin
ISO
ClinVar Annotator: match by term: Thrombocytopenia
ClinVar
PMID:25741868 PMID:28466964 PMID:31064749 PMID:32150607
Ensembl chr11:80,182,820...80,188,167
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Tnf
tumor necrosis factor
severity
ISO
associated with Hemorrhagic Fever with Renal Syndrome;DNA:SNP:promoter:-238G>A (human) associated with Malaria, Vivax
RGD
PMID:16987073 PMID:25128199
RGD:10449459 , RGD:11041893
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Tnfrsf10b
TNF receptor superfamily member 10b
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19652058
NCBI chr15:44,839,818...44,867,582
Ensembl chr15:44,840,386...44,867,467
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Tubb1
tubulin, beta 1 class VI
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...
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
ISO
ClinVar Annotator: match by term: Thrombocytopenia
ClinVar
PMID:16985174 PMID:18315556 PMID:19506361 PMID:25741868 PMID:31064749
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
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...
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
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17515402
NCBI chr14:72,258,032...72,291,768
Ensembl chr14:72,257,956...72,291,766
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Xdh
xanthine dehydrogenase
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Thrombocytopenia
CTD ClinVar
PMID:2510358 PMID:25741868 PMID:28492532 PMID:30755392
NCBI chr 6:21,530,463...21,592,172
Ensembl chr 6:21,530,113...21,592,268
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Adamts13
ADAM metallopeptidase with thrombospondin type 1 motif, 13
ISO
protein:decreased activity:serum (human) ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome
ClinVar RGD
PMID:12753286 PMID:17187257 PMID:17627784 PMID:23715102 PMID:25741868 PMID:28492532 PMID:28748566 PMID:28866379 PMID:30046676 PMID:32183147 PMID:12640381 More...
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
ISO
ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1
ClinVar
PMID:17182750 PMID:20301541
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
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...
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
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 DNA:missense mutations: :p.F603V, p.R1042L, p.I1157T (human)
ClinVar CTD OMIM 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:17517971 PMID:20513133 More...
RGD:7364995 , RGD:11040768
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
ISO
ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1
ClinVar
NCBI chr 4:156,074,747...156,084,680
Ensembl chr 4:156,075,389...156,084,701
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Cd46
CD46 molecule
severity susceptibility
ISO
DNA:mutations:cds:multiple (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, 2 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome | ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2 ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome | ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2 CTD Direct Evidence: marker/mechanism protein:increased expression:peripheral blood mononuclear cell (human) DNA:snp:intron:c.IVS8+23T>G (rs2724374) (human) DNA:missense mutations:cds:p.R69W, p.A304V (human)
ClinVar OMIM CTD RGD
PMID:270646 PMID:2431077 PMID:3480783 PMID: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:20595690 PMID:16353080 PMID:20513133 PMID:17914026 More...
RGD:11038684 , RGD:11352810 , RGD:11040768 , RGD:11352768
NCBI chr13:106,575,586...106,606,325
Ensembl chr13:106,574,858...106,660,445
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Cep290
centrosomal protein 290
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...
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, protein:mutations:cds: c.858C>G, F286L, c.967A>G, K323E (human) ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome 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:nonsense mutations: :multiple
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:17182750 PMID:20513133 More...
RGD:7242707 , RGD:11040768
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
ISO IMP
DNA:missense mutation ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: 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:deletion:Cds: 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:10577907 PMID:9811382 PMID:23243267 PMID:20513133 PMID:17517971 PMID:17517971 PMID:17517971 More...
RGD:1599886 , RGD:11041172 , RGD:11041162 , RGD:11040768 , RGD:7364995 , RGD:7364995 , RGD:7364995
NCBI chr13:51,512,376...51,613,829
Ensembl chr13:51,511,828...51,613,838
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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 CTD OMIM RGD
PMID:16998489 PMID:17367211 PMID:18006700 PMID:20843825 PMID:25741868 PMID:26284228 PMID:23243267 More...
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
ISO
ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome
ClinVar
PMID:25741868 PMID:28492532
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 CTD OMIM 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...
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
ISO
ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome
ClinVar
PMID:11134255 PMID:12028435 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 More...
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
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...
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
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...
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
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...
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
ISO
ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome
ClinVar
PMID:25741868 PMID:28492532
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
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...
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
ISO
ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome
ClinVar
PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532
NCBI chr 7:109,343,718...109,424,457
Ensembl chr 7:109,343,706...109,424,457
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Nlrp3
NLR family, pyrin domain containing 3
ISO
ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome
ClinVar
PMID:25741868 PMID:28492532
NCBI chr10:44,326,770...44,353,814
Ensembl chr10:44,328,566...44,352,811
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Nphp3
nephrocystin 3
ISO
ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome
ClinVar
PMID:25741868 PMID:26184788 PMID:28492532
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
ISO
ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome
ClinVar
PMID:25741868 PMID:28492532
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
ISO
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome
ClinVar
PMID:25741868
NCBI chr 3:44,883,943...45,013,793
Ensembl chr 3:44,883,943...45,013,660
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Plg
plasminogen
ISO
ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 1:48,325,186...48,367,643
Ensembl chr 1:48,325,185...48,367,786
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Smarcal1
Swi/SNF related matrix associated, actin dependent regulator of chromatin, subfamily a-like 1
ISO
ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome
ClinVar
PMID:28492532 PMID:28844315
NCBI chr 9:74,239,718...74,286,156
Ensembl chr 9:74,240,241...74,286,146
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Thbd
thrombomodulin
severity susceptibility no_association
ISO
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 6 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 6 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 6 | ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome CTD Direct Evidence: marker/mechanism DNA:SNPs:5' utr, 3' utr:multiple DNA:missense mutations:CDS:multiple
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:20595690 PMID:19625716 PMID:19625716 More...
RGD:11038684 , RGD:11038691 , RGD:11038691
NCBI chr 3:135,863,366...135,867,018
Ensembl chr 3:135,862,835...135,867,193
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Tmem67
transmembrane protein 67
ISO
ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 5:25,536,458...25,589,378
Ensembl chr 5:25,536,458...25,589,334
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Trpc6
transient receptor potential cation channel, subfamily C, member 6
ISO
ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome
ClinVar
PMID:19380626 PMID:25741868
NCBI chr 8:5,759,387...5,864,000
Ensembl chr 8:5,758,935...5,828,092
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Wt1
WT1 transcription factor
ISO
ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 3:91,566,540...91,613,653
Ensembl chr 3:91,567,001...91,613,643
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Adamts13
ADAM metallopeptidase with thrombospondin type 1 motif, 13
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19260037
NCBI chr 3:10,299,264...10,338,464
Ensembl chr 3:10,300,028...10,346,687
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Alb
albumin
ISO
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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Cd40
CD40 molecule
ISO
protein:increased expression:peripheral blood, B lymphocyte (human)
RGD
PMID:17654056
RGD:11344977
NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
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Cd40lg
CD40 ligand
treatment
ISO
protein:increased expression:peripheral blood, T lymphocyte (human) protein:decreased expression:serum (mouse)
RGD
PMID:17654056 PMID:22537155 PMID:18341638 PMID:16188945
RGD:11344977 , RGD:11352267 , RGD:11352237 , RGD:11344980
NCBI chr X:135,127,119...135,138,302
Ensembl chr X:135,126,969...135,138,306
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Cd86
CD86 molecule
treatment
ISO
protein:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:19379594 PMID:20581660
RGD:11354966 , RGD:11520785
NCBI chr11:64,142,193...64,200,816
Ensembl chr11:64,163,828...64,200,818
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Dnmt3a
DNA methyltransferase 3 alpha
ISO
mRNA:decreased expression:mononuclear cell
RGD
PMID:18683034
RGD:9588662
NCBI chr 6:26,791,517...26,902,161
Ensembl chr 6:26,822,609...26,896,687
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Dnmt3b
DNA methyltransferase 3 beta
susceptibility
ISO
mRNA:decreased expression:mononuclear cell DNA:SNP:promoter: -579G>T(human)
RGD
PMID:18683034 PMID:23000068
RGD:9588662 , RGD:9589094
NCBI chr 3:142,130,592...142,169,124
Ensembl chr 3:142,130,592...142,169,124
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Fas
Fas cell surface death receptor
ISO
protein:increased expression:serum:
RGD
PMID:10776692
RGD:11049162
NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
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Fcgr2a
Fc gamma receptor 2A
no_association susceptibility treatment
ISO
DNA:SNP:cds:p.R131H (human)
RGD
PMID:20699442 PMID:23249566 PMID:22123287 PMID:21131591
RGD:11040883 , RGD:11040990 , RGD:11040989 , RGD:11040933
NCBI chr13:83,280,782...83,297,535
Ensembl chr13:83,280,784...83,295,967
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Fcgr2b
Fc gamma receptor 2B
treatment disease_progression
ISO
DNA:SNP: :p.I232T (human)
RGD
PMID:21131591 PMID:21045192 PMID:22257295 PMID:15566359 PMID:19549396
RGD:11040933 , RGD:11344955 , RGD:11344931 , RGD:11344928 , RGD:11344927
NCBI chr13:83,191,253...83,207,776
Ensembl chr13:83,193,163...83,207,778
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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:23484707 PMID:22123287 PMID:15479722
RGD:11040776 , RGD:11352255 , RGD:11040989 , RGD:11344926
NCBI chr13:83,249,905...83,259,921
Ensembl chr13:83,249,872...83,259,921
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Gp1ba
glycoprotein Ib platelet subunit alpha
ISO
RGD
PMID:16861348
RGD:10450841
NCBI chr10:55,352,938...55,355,804
Ensembl chr10:55,352,899...55,356,774
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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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Il18
interleukin 18
ISO
protein:increased expression:plasma:
RGD
PMID:24801815
RGD:11073600
NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
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Il1a
interleukin 1 alpha
ISO
DNA:SNP:promoter:-899C>T (human)
RGD
PMID:21591983
RGD:11051966
NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
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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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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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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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Itgb3
integrin subunit beta 3
ISO
RGD
PMID:10936026 PMID:24258817
RGD:10755473 , RGD:10755475
NCBI chr10:89,509,917...89,564,679
Ensembl chr10:89,509,989...89,564,679
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Mir130a
microRNA 130a
ISO
RNA:decreased expression:PBMC
RGD
PMID:24801815
RGD:11073600
NCBI chr 3:69,822,542...69,822,629
Ensembl chr 3:69,822,542...69,822,629
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Mir3581
microRNA 3581
treatment
ISO
RGD
PMID:23360331
RGD:10755694
NCBI chr 6:128,757,779...128,757,858
Ensembl chr 6:128,757,779...128,757,858
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Mir409
microRNA 409
treatment
ISO
RGD
PMID:23360331
RGD:10755694
NCBI chr 6:128,757,780...128,757,856
Ensembl chr 6:128,757,779...128,757,858
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Plat
plasminogen activator, tissue type
ISO
protein:increased expression:plasma (human)
RGD
PMID:2129164
RGD:11541072
NCBI chr16:69,240,582...69,265,177
Ensembl chr16:69,240,585...69,268,223
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Ptpn22
protein tyrosine phosphatase, non-receptor type 22
no_association
ISO
DNA: snp: cds: C1858T DNA:snp:cds:c.1858C>T (rs2476601) (human)
RGD
PMID:21597364 PMID:27309885
RGD:6484673 , RGD:11535019
NCBI chr 2:191,366,761...191,414,782
Ensembl chr 2:191,366,808...191,414,779
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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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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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Socs1
suppressor of cytokine signaling 1
ISO
ClinVar Annotator: match by term: Autoimmune thrombocytopenic purpura | ClinVar Annotator: match by term: Idiopathic thrombocytopenic purpura
ClinVar
PMID:32853638 PMID:33087723
NCBI chr10:4,882,651...4,884,342
Ensembl chr10:4,882,560...4,884,383
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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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Tubb1
tubulin, beta 1 class VI
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...
NCBI chr 3:163,247,990...163,257,460
Ensembl chr 3:163,247,967...163,256,063
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Myh9
myosin, heavy chain 9
ISO
ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 17 | ClinVar Annotator: match by term: Deafness, autosomal dominant 17 | ClinVar Annotator: match by term: Deafness, autosomal dominant 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...
NCBI chr 7:109,343,718...109,424,457
Ensembl chr 7:109,343,706...109,424,457
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Kif15
kinesin family member 15
ISO
ClinVar Annotator: match by term: Braddock-Carey syndrome 2
OMIM ClinVar
PMID:28150392
NCBI chr 8:122,601,888...122,672,750
Ensembl chr 8:122,601,897...122,672,750
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Mpl
MPL proto-oncogene, thrombopoietin receptor
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...
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
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...
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
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 Carcinoma, Non-Small-Cell Lung associated with Ovarian Neoplasms
RGD
PMID:7666093 PMID:8151314
RGD:11051963 , RGD:11051964
NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
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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
RGD
PMID:10942385 PMID:17234740
RGD:11541093 , RGD:11541120
NCBI chr10:91,590,521...91,652,279
Ensembl chr10:91,590,521...91,652,116
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Bivm
basic, immunoglobulin-like variable motif containing
ISO
ClinVar Annotator: match by term: Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
ClinVar
PMID:25414442 PMID:28492532
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
ISO
ClinVar Annotator: match by term: Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
ClinVar
PMID:25414442 PMID:28492532
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
ISO
ClinVar Annotator: match by term: Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
ClinVar
PMID:25414442 PMID:28492532
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
ISO
ClinVar Annotator: match by term: Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
ClinVar
PMID:25414442 PMID:28492532
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
ISO
ClinVar Annotator: match by term: Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
ClinVar
PMID:25414442 PMID:28492532
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
ISO
ClinVar Annotator: match by term: Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
ClinVar
PMID:25414442 PMID:28492532
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
ISO
ClinVar Annotator: match by term: Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
ClinVar
PMID:25414442 PMID:28492532
NCBI chr16:84,386,528...84,409,475
Ensembl chr16:84,374,862...84,409,475
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Tex30
testis expressed 30
ISO
ClinVar Annotator: match by term: Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
ClinVar
PMID:25414442 PMID:28492532
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
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...
NCBI chr 9:46,046,712...46,128,157
Ensembl chr 9:46,046,632...46,128,157
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Myh9
myosin, heavy chain 9
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...
NCBI chr 7:109,343,718...109,424,457
Ensembl chr 7:109,343,706...109,424,457
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Alb
albumin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:6734075
NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836
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Ccl2
C-C motif chemokine ligand 2
IEP
protein:increased expression:plasma (rat)
RGD
PMID:10201001
RGD:11528527
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
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Ccl3
C-C motif chemokine ligand 3
ISO
RGD
PMID:17220320
RGD:7241820
NCBI chr10:68,451,388...68,452,938
Ensembl chr10:68,451,388...68,452,938
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Cd36
CD36 molecule
ISO
RGD
PMID:16197457
RGD:6893534
NCBI chr 4:17,317,343...17,410,084
Ensembl chr 4:17,354,466...17,513,903
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Cd46
CD46 molecule
susceptibility
ISO
DNA:frameshift mutation:cds:p.N233X3 (human) DNA:mutations:multiple (human) DNA:deletion, missense mutation:cds:p.D237_S238del, p.S206P (human)
RGD
PMID:14615110 PMID:16189652 PMID:14566051
RGD:11352767 , RGD:11531138 , RGD:11352770
NCBI chr13:106,575,586...106,606,325
Ensembl chr13:106,574,858...106,660,445
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Cfh
complement factor H
ISO ISS
DNA:mutations, polymorphisms:promoter, exon:multiple OMIM:235400 | OMIM:612922 | OMIM:612923 | OMIM:612924 | OMIM:612925 | OMIM:612926
MouseDO RGD
PMID:14583443
RGD:11041164
NCBI chr13:51,512,376...51,613,829
Ensembl chr13:51,511,828...51,613,838
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Dgke
diacylglycerol kinase epsilon
ISO
ClinVar Annotator: match by term: Hemolytic-uremic syndrome
ClinVar
PMID:25854283
NCBI chr10:73,852,679...73,877,334
Ensembl chr10:73,855,583...73,877,100
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Epo
erythropoietin
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:12053072
NCBI chr12:19,204,258...19,207,948
Ensembl chr12:19,204,508...19,207,946
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F2
coagulation factor II
ISO
associated with diarrhea;protein:increased expression:plasma (human)
RGD
PMID:9423793
RGD:40818428
NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486
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Fos
Fos proto-oncogene, AP-1 transcription factor subunit
ISO
RGD
PMID:15632024
RGD:7242276
NCBI chr 6:105,121,170...105,124,036
Ensembl chr 6:105,121,170...105,124,036
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Hp
haptoglobin
ISO
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
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15384034
NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
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Il1b
interleukin 1 beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15384034
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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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
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
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15384034
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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Mbl2
mannose binding lectin 2
treatment
ISO
RGD
PMID:27378476
RGD:11530050
NCBI chr 1:228,016,439...228,024,736
G
Nqo1
NAD(P)H quinone dehydrogenase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12588957
NCBI chr19:35,295,633...35,310,528
Ensembl chr19:35,295,573...35,310,557
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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
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
ISO
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
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15384034
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Fcgr2a
Fc gamma receptor 2A
ISO
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:repeats, haplotype:promoter DNA:SNPs:promoter:rs1800896 (-1082G/A), rs1800871 (-819C/T), rs1800872 (-592C/A) (human)
RGD
PMID:22239992 PMID:22239992
RGD:11049164 , RGD:11049164
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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Tuba8
tubulin, alpha 8
ISO
ClinVar Annotator: match by term: Macrothrombocytopenia, isolated, 2, autosomal dominant
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:34704371
NCBI chr 4:154,440,045...154,456,918
Ensembl chr 4:154,440,074...154,456,917
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Sall4
spalt-like transcription factor 4
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
NCBI chr 3:157,474,067...157,491,055
Ensembl chr 3:157,474,642...157,490,822
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Acad8
acyl-CoA dehydrogenase family, member 8
ISO
ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia
ClinVar
PMID:32581362
NCBI chr 8:25,382,271...25,406,429
Ensembl chr 8:25,382,273...25,406,414
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Acrv1
acrosomal vesicle protein 1
ISO
ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia
ClinVar
PMID:32581362
NCBI chr 8:36,404,394...36,409,971
Ensembl chr 8:36,404,394...36,424,959
G
Adamts15
ADAM metallopeptidase with thrombospondin type 1 motif, 15
ISO
ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia
ClinVar
PMID:32581362
NCBI chr 8:29,307,864...29,331,249
Ensembl chr 8:29,307,865...29,331,249
G
Adamts8
ADAM metallopeptidase with thrombospondin type 1 motif, 8
ISO
ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia
ClinVar
PMID:32581362
NCBI chr 8:29,349,078...29,368,413
Ensembl chr 8:29,349,114...29,368,404
G
Aplp2
amyloid beta precursor like protein 2
ISO
ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia
ClinVar
PMID:32581362
NCBI chr 8:29,599,230...29,662,311
Ensembl chr 8:29,599,230...29,661,855
G
Arhgap32
Rho GTPase activating protein 32
ISO
ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia
ClinVar
PMID:32581362
NCBI chr 8:30,421,269...30,681,653
Ensembl chr 8:30,421,515...30,678,454
G
B3gat1
beta-1,3-glucuronyltransferase 1
ISO
ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia
ClinVar
PMID:32581362
NCBI chr 8:25,087,123...25,114,692
Ensembl chr 8:25,087,547...25,113,395
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Barx2
BARX homeobox 2
ISO
ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia
ClinVar
PMID:32581362
NCBI chr 8:30,251,132...30,319,105
Ensembl chr 8:30,251,132...30,319,013
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Ccdc15
coiled-coil domain containing 15
ISO
ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia
ClinVar
PMID:32581362
NCBI chr 8:36,991,147...37,068,849
Ensembl chr 8:36,998,867...37,068,919
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Cdon
cell adhesion associated, oncogene regulated
ISO
ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia
ClinVar
PMID:32581362
NCBI chr 8:33,775,123...33,861,635
Ensembl chr 8:33,806,183...33,859,033
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Chek1
checkpoint kinase 1
ISO
ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia
ClinVar
PMID:32581362
NCBI chr 8:36,420,565...36,443,477
Ensembl chr 8:36,420,569...36,441,009
G
Dcps
decapping enzyme, scavenger
ISO
ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia
ClinVar
PMID:32581362
NCBI chr 8:33,468,669...33,524,407
Ensembl chr 8:33,415,671...33,524,389
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Ddx25
DEAD-box helicase 25
ISO
ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia
ClinVar
PMID:32581362
NCBI chr 8:33,894,224...33,910,377
Ensembl chr 8:33,894,232...33,921,764
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Ei24
EI24, autophagy associated transmembrane protein
ISO
ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia
ClinVar
PMID:32581362
NCBI chr 8:36,494,289...36,510,653
Ensembl chr 8:36,494,289...36,510,571
G
Esam
endothelial cell adhesion molecule
ISO
ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia
ClinVar
PMID:32581362
NCBI chr 8:37,238,228...37,249,217
Ensembl chr 8:37,238,287...37,249,215
G
Ets1
ETS proto-oncogene 1, transcription factor
ISO
ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia
ClinVar
PMID:32581362
NCBI chr 8:31,045,909...31,168,010
Ensembl chr 8:31,045,945...31,168,010
G
Fam118b
family with sequence similarity 118, member B
ISO
ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia
ClinVar
PMID:32581362
NCBI chr 8:33,566,681...33,617,310
Ensembl chr 8:33,566,669...33,617,270
G
Fez1
fasciculation and elongation protein zeta 1
ISO
ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia
ClinVar
PMID:32581362
NCBI chr 8:36,544,462...36,589,684
Ensembl chr 8:36,544,535...36,589,683
G
Fli1
Fli-1 proto-oncogene, ETS transcription factor
ISO
ClinVar Annotator: match by term: 11q partial monosomy syndrome | ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia
ClinVar
PMID:25741868 PMID:28255014 PMID:31064749 PMID:32581362
NCBI chr 8:30,831,422...30,950,468
Ensembl chr 8:30,832,753...30,950,433
G
Foxred1
FAD-dependent oxidoreductase domain containing 1
ISO
ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia
ClinVar
PMID:32581362
NCBI chr 8:33,551,010...33,560,227
Ensembl chr 8:33,551,013...33,560,192
G
Glb1l2
galactosidase, beta 1-like 2
ISO
ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia
ClinVar
PMID:32581362
NCBI chr 8:25,115,462...25,166,843
Ensembl chr 8:25,115,462...25,166,783
G
Glb1l3
galactosidase, beta 1-like 3
ISO
ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia
ClinVar
PMID:32581362
NCBI chr 8:25,179,165...25,220,904
Ensembl chr 8:25,179,165...25,220,904
G
Hepacam
hepatic and glial cell adhesion molecule
ISO
ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia
ClinVar
PMID:32581362
NCBI chr 8:37,087,864...37,106,759
Ensembl chr 8:37,087,857...37,105,920
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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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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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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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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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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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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
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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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:cds:p.R702C(mouse) DNA:mutation:exon:p.E1841K(human) DNA:missense mutations:exons:multiple
ClinVar CTD OMIM RGD
PMID:1449176 PMID:5011389 PMID:8280620 PMID:9390828 PMID: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:23976996 PMID:16806139 PMID:11752022 More...
RGD:6902926 , RGD:11533924 , RGD:11532766 , RGD:6903235
NCBI chr 7:109,343,718...109,424,457
Ensembl chr 7:109,343,706...109,424,457
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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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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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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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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...
NCBI chr10:89,509,917...89,564,679
Ensembl chr10:89,509,989...89,564,679
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Actn1
actinin, alpha 1
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...
NCBI chr 6:98,998,553...99,093,334
Ensembl chr 6:98,998,556...99,093,251
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Fli1
Fli-1 proto-oncogene, ETS transcription factor
ISO
ClinVar Annotator: match by term: Bleeding disorder platelet type macrothrombocytopenia
ClinVar
PMID:23809206 PMID:26316623
NCBI chr 8:30,831,422...30,950,468
Ensembl chr 8:30,832,753...30,950,433
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Gfi1b
growth factor independent 1B transcriptional repressor
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...
NCBI chr 3:11,940,232...11,952,989
Ensembl chr 3:11,940,233...11,952,942
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Itga2
integrin subunit alpha 2
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
NCBI chr 2:46,520,345...46,621,487
Ensembl chr 2:46,523,948...46,621,481
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Mocs2
molybdenum cofactor synthesis 2
ISO
ClinVar Annotator: match by term: COLLAGEN PLATELET RECEPTOR DEFICIENCY | ClinVar Annotator: match by term: Platelet-type bleeding disorder 9
ClinVar
NCBI chr 2:46,504,574...46,516,327
Ensembl chr 2:46,504,588...46,516,324
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Itgb3
integrin subunit beta 3
ISO
ClinVar Annotator: match by term: PEN(a)/PEN(b) ALLOANTIGEN POLYMORPHISM
OMIM ClinVar
PMID:1430225 PMID:9787162 PMID:14516468 PMID:21658138 PMID:25741868 PMID:28492532 More...
NCBI chr10:89,509,917...89,564,679
Ensembl chr10:89,509,989...89,564,679
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Hoxa11
homeobox A11
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24239177
NCBI chr 4:81,342,527...81,346,189
Ensembl chr 4:81,342,528...81,346,232
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Hoxa11
homeobox A11
ISO
ClinVar Annotator: match by term: Radioulnar synostosis with amegakaryocytic thrombocytopenia 1
OMIM ClinVar
PMID:11101832 PMID:25741868
NCBI chr 4:81,342,527...81,346,189
Ensembl chr 4:81,342,528...81,346,232
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Mecom
MDS1 and EVI1 complex locus
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...
NCBI chr 2:112,909,353...113,464,583
Ensembl chr 2:112,909,321...113,464,590
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Cdc42
cell division cycle 42
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...
NCBI chr 5:149,555,069...149,593,239
Ensembl chr 5:149,553,724...149,593,111
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Gata1
GATA binding protein 1
ISO
associated with Beta-Thalassemia;DNA:missense mutation: :p.R216Q (human)
RGD
PMID:12200364
RGD:10450747
NCBI chr X:14,529,706...14,537,530
Ensembl chr X:14,529,702...14,537,530
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Was
WASP actin nucleation promoting factor
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...
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
ISO
ClinVar Annotator: match by term: Thrombocytopenia 2
ClinVar
PMID:25741868 PMID:28492532
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
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...
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
ISO
ClinVar Annotator: match by term: Thrombocytopenia 2
ClinVar
PMID:10891439 PMID:12890928 PMID:19460416 PMID:22102272 PMID:25741868 PMID:28492532 More...
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
ISO
ClinVar Annotator: match by term: Thrombocytopenia 3
OMIM ClinVar
PMID:25741868 PMID:25876182
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
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...
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
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...
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
ISO
ClinVar Annotator: match by term: Thrombocytopenia 6
OMIM ClinVar
PMID:25741868 PMID:26936507 PMID:32581362
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
ISO
Hyperoxaluria, primary, type I (Oxalosis I)
OMIA
PMID:1672096 PMID:2394849 PMID:22486513
NCBI chr 9:93,675,384...93,685,337
Ensembl chr 9:93,675,384...93,685,336
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Ikzf5
IKAROS family zinc finger 5
ISO
ClinVar Annotator: match by term: Thrombocytopenia 7
OMIM ClinVar
PMID:25741868 PMID:31217188 PMID:32419556
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
ISO
ClinVar Annotator: match by term: Thrombocytopenia, anemia, and myelofibrosis
OMIM ClinVar
PMID:25741868 PMID:27743390
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
ISO
ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome | ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome
ClinVar
NCBI chr 2:184,711,975...184,733,067
Ensembl chr 2:184,711,619...184,733,017
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Ankrd34a
ankyrin repeat domain 34A
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...
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
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...
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
ISO
ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome | ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome
ClinVar
NCBI chr 2:184,760,616...184,846,261
Ensembl chr 2:184,760,618...184,786,435
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Cd160
CD160 molecule
ISO
ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome
ClinVar
NCBI chr 2:184,340,820...184,383,421
Ensembl chr 2:184,340,599...184,375,834
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Chd1l
chromodomain helicase DNA binding protein 1-like
ISO
ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome | ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome
ClinVar
NCBI chr 2:185,138,526...185,217,498
Ensembl chr 2:185,139,308...185,217,595
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Fmo5
flavin containing dimethylaniline monoxygenase 5
ISO
ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome | ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome
ClinVar
NCBI chr 2:185,197,184...185,249,699
Ensembl chr 2:185,222,204...185,249,693
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Gja5
gap junction protein, alpha 5
ISO
ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome | ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 2:184,602,407...184,621,952
Ensembl chr 2:184,564,475...184,621,952
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Gja8
gap junction protein, alpha 8
ISO
ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome | ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome
ClinVar
PMID:25741868 PMID:26694549 PMID:28492532
NCBI chr 2:184,490,840...184,492,456
Ensembl chr 2:184,490,840...184,492,456
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Gpr89b
G protein-coupled receptor 89B
ISO
ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome | ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome
ClinVar
NCBI chr 2:184,408,136...184,445,560
Ensembl chr 2:184,401,438...184,445,584
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Hjv
hemojuvelin BMP co-receptor
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...
NCBI chr 2:184,065,970...184,069,851
Ensembl chr 2:184,065,970...184,069,850
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Itga10
integrin subunit alpha 10
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...
NCBI chr 2:184,182,869...184,202,172
Ensembl chr 2:184,182,869...184,202,172
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Lix1l
limb and CNS expressed 1 like
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...
NCBI chr 2:184,136,018...184,161,918
Ensembl chr 2:184,136,038...184,161,916
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LOC100911252
peptidyl-prolyl cis-trans isomerase A-like
ISO
ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome
ClinVar
NCBI chr 4:41,828,873...41,829,619
Ensembl chr 4:41,828,867...41,829,622
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Nudt17
nudix hydrolase 17
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...
NCBI chr 2:184,241,468...184,243,960
Ensembl chr 2:184,241,468...184,243,960
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Pdzk1
PDZ domain containing 1
ISO
ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome
ClinVar
NCBI chr 2:184,376,161...184,407,514
Ensembl chr 2:184,376,161...184,407,514
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Pex11b
peroxisomal biogenesis factor 11 beta
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...
NCBI chr 2:184,172,041...184,180,972
Ensembl chr 2:184,172,004...184,181,495
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Pias3
protein inhibitor of activated STAT, 3
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...
NCBI chr 2:184,232,546...184,241,455
Ensembl chr 2:184,232,571...184,241,480
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Polr3c
RNA polymerase III subunit C
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...
NCBI chr 2:184,246,201...184,262,150
Ensembl chr 2:184,246,204...184,262,208
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Polr3gl
RNA polymerase III subunit GL
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...
NCBI chr 2:184,111,570...184,129,200
Ensembl chr 2:184,112,510...184,129,114
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Ppial4g
peptidylprolyl isomerase A like 4G
ISO
ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome
ClinVar
NCBI chr15:74,015,628...74,016,215
Ensembl chr15:74,015,628...74,016,215
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Prkab2
protein kinase AMP-activated non-catalytic subunit beta 2
ISO
ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome | ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome
ClinVar
NCBI chr 2:185,257,218...185,272,846
Ensembl chr 2:185,257,213...185,269,872
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Rbm8a
RNA binding motif protein 8A
ISO
ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:9536098 PMID:16501574 PMID:17236129 PMID:17576681 PMID:22366785 PMID:22581968 PMID:23754559 PMID:24033266 PMID:24053387 PMID:24220582 PMID:25741868 PMID:26136524 PMID:26233629 PMID:27320760 PMID:27846804 PMID:28129423 PMID:28492532 PMID:28857120 PMID:32227665 PMID:34355501 More...
NCBI chr 2:184,165,189...184,167,959
Ensembl chr 2:184,165,193...184,167,959
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Rnf115
ring finger protein 115
ISO
ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome
ClinVar
NCBI chr 2:184,262,087...184,329,841
Ensembl chr 2:184,262,371...184,329,823
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Rnvu1-6
RNA, variant U1 small nuclear 6
ISO
ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome
ClinVar
NCBI chr 2:220,206,250...220,206,413
Ensembl chr 2:220,206,250...220,206,413
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Txnip
thioredoxin interacting protein
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...
NCBI chr 2:184,093,079...184,096,882
Ensembl chr 2:184,092,991...184,096,886
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Gp9
glycoprotein IX (platelet)
ISO
RGD
PMID:23103637
RGD:11040532
NCBI chr 4:120,235,539...120,236,874
Ensembl chr 4:120,235,421...120,237,110
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Itga2b
integrin subunit alpha 2b
ISO
RGD
PMID:11493456
RGD:2316362
NCBI chr10:87,408,532...87,426,055
Ensembl chr10:87,408,536...87,426,168
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Itgb3
integrin subunit beta 3
ISO
associated with HIV Infections
RGD
PMID:11493456 PMID:8565280
RGD:2316362 , RGD:10755471
NCBI chr10:89,509,917...89,564,679
Ensembl chr10:89,509,989...89,564,679
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Vwf
von Willebrand factor
ISO
RGD
PMID:14727254
RGD:1580644
NCBI chr 4:158,360,152...158,491,539
Ensembl chr 4:158,360,152...158,491,539
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Adamts13
ADAM metallopeptidase with thrombospondin type 1 motif, 13
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:14625834 PMID:16388419
NCBI chr 3:10,299,264...10,338,464
Ensembl chr 3:10,300,028...10,346,687
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Atrip
ATR interacting protein
ISO
ClinVar Annotator: match by term: Thrombotic microangiopathy
ClinVar
PMID:29941221
NCBI chr 8:109,708,440...109,722,511
Ensembl chr 8:109,708,440...109,722,477
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C3
complement C3
treatment
IDA
RGD
PMID:11532096
RGD:5129554
NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429
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Cd46
CD46 molecule
ISO
ClinVar Annotator: match by term: Thrombotic microangiopathy
ClinVar
PMID:16199547 PMID:16621965 PMID:16762990 PMID:23431077 PMID:23519521 PMID:25741868 PMID:26559391 PMID:28492532 PMID:28752844 PMID:30046676 PMID:30676336 More...
NCBI chr13:106,575,586...106,606,325
Ensembl chr13:106,574,858...106,660,445
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Cfh
complement factor H
ISO
associated with Kidney Failure, Chronic;DNA:missense mutations:exon:p.N516K (c.1548T>A), p.Q950H (c.2850G>T), p.K1186H (c.3557A>C) (human) ClinVar Annotator: match by term: Thrombotic microangiopathy
ClinVar RGD
PMID:25741868 PMID:26283675 PMID:28492532 PMID:18557729
RGD:11041165
NCBI chr13:51,512,376...51,613,829
Ensembl chr13:51,511,828...51,613,838
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Cfi
complement factor I
ISO
associated with Kidney Failure, Chronic;DNA:missense mutations, splice-site mutation:exon:multiple ClinVar Annotator: match by term: Thrombotic microangiopathy
ClinVar RGD
PMID:25741868 PMID:28492532 PMID:18557729
RGD:11041165
NCBI chr 2:218,389,079...218,430,565
Ensembl chr 2:218,387,990...218,430,561
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Cpb2
carboxypeptidase B2
ISO
DNA:polymorphism: ;1542C>G(human)
RGD
PMID:17327284
RGD:7243121
NCBI chr15:50,557,722...50,606,569
Ensembl chr15:50,557,717...50,606,556
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F3
coagulation factor III, tissue factor
ISO
RGD
PMID:19535796
RGD:11341690
NCBI chr 2:209,827,061...209,838,666
Ensembl chr 2:209,826,959...209,838,668
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Fgg
fibrinogen gamma chain
ISO
RGD
PMID:17038160
RGD:11352673
NCBI chr 2:168,354,880...168,362,325
Ensembl chr 2:168,355,013...168,362,322
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Itgb3
integrin subunit beta 3
ISO
associated with Chronic Allograft Dysfunction;protein:increased expression:arteriole
RGD
PMID:18234279
RGD:10755463
NCBI chr10:89,509,917...89,564,679
Ensembl chr10:89,509,989...89,564,679
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Mthfr
methylenetetrahydrofolate reductase
susceptibility
ISO
DNA:transition:cds:g.677C>T (human)
RGD
PMID:19448163
RGD:6893633
NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
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Nos2
nitric oxide synthase 2
IEP
protein:Increased expression:kidney:neutrophil, endothelial cell, kidney:
RGD
PMID:10908153
RGD:11533936
NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
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Nos3
nitric oxide synthase 3
IEP
protein:decreased expression:kidney:
RGD
PMID:10908153
RGD:11533936
NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
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Trex1
three prime repair exonuclease 1
ISO
ClinVar Annotator: match by term: Thrombotic microangiopathy
ClinVar
PMID:29941221
NCBI chr 8:109,706,613...109,707,913
Ensembl chr 8:109,706,613...109,708,796
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Vegfa
vascular endothelial growth factor A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22808199
NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
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Vwf
von Willebrand factor
disease_progression
ISO
protein:increased expression:plasma
RGD
PMID:21153061 PMID:20439183
RGD:7205650 , RGD:7207026
NCBI chr 4:158,360,152...158,491,539
Ensembl chr 4:158,360,152...158,491,539
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Adamts13
ADAM metallopeptidase with thrombospondin type 1 motif, 13
ISO
ClinVar Annotator: match by term: Thrombotic thrombocytopenic purpura | ClinVar Annotator: match by term: Upshaw-Schulman syndrome CTD Direct Evidence: marker/mechanism Adult Onset Purpura, Thrombotic Thrombocytopenic;DNA:missense mutation:cds:p.R1060W (human) DNA:mutations:multiple (human) protein:decreased activity:plasma (human)
OMIM ClinVar CTD RGD
PMID:6433703 PMID:7094941 PMID:9536098 PMID:11563771 PMID:11586351 PMID:12181489 PMID:12393505 PMID:12434890 PMID:12576319 PMID:12614216 PMID:12656756 PMID:12753286 PMID:14512317 PMID:14563640 PMID:14597993 PMID:15009458 PMID:15126318 PMID:15521921 PMID:15800115 PMID:16160007 PMID:16388417 PMID:16453338 PMID:16597588 PMID:16796708 PMID:16807643 PMID:17003922 PMID:17187257 PMID:17576681 PMID:17627784 PMID:17849048 PMID:18031293 PMID:18443791 PMID:18481107 PMID:18581589 PMID:18665921 PMID:19047683 PMID:19055667 PMID:19786614 PMID:19847791 PMID:20647566 PMID:20886194 PMID:21488199 PMID:21676167 PMID:21781265 PMID:22289888 PMID:22529288 PMID:22547583 PMID:22768050 PMID:22783805 PMID:23058857 PMID:23208954 PMID:23346910 PMID:23621748 PMID:23648131 PMID:23715102 PMID:23847193 PMID:24033266 PMID:24433405 PMID:24859360 PMID:24936513 PMID:25442981 PMID:25741868 PMID:25934476 PMID:26081109 PMID:26139087 PMID:26342041 PMID:26352112 PMID:26566785 PMID:27132698 PMID:27427187 PMID:27802307 PMID:28492532 PMID:28678087 PMID:28748566 PMID:28866379 PMID:29554699 PMID:30046676 PMID:30312976 PMID:30792199 PMID:31064749 PMID:31971692 PMID:31980526 PMID:32183147 PMID:32496441 PMID:34355501 PMID:18031293 PMID:11586351 PMID:16200209 PMID:9129011 More...
RGD:10449043 , RGD:1598736 , RGD:10449037 , RGD:10449028
NCBI chr 3:10,299,264...10,338,464
Ensembl chr 3:10,300,028...10,346,687
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Cd36
CD36 molecule
ISO
RGD
PMID:7529543
RGD:11041104
NCBI chr 4:17,317,343...17,410,084
Ensembl chr 4:17,354,466...17,513,903
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F3
coagulation factor III, tissue factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:7740478
NCBI chr 2:209,827,061...209,838,666
Ensembl chr 2:209,826,959...209,838,668
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Proc
protein C, inactivator of coagulation factors Va and VIIIa
ISO
RGD
PMID:10936861
RGD:11100014
NCBI chr18:23,764,367...23,774,816
Ensembl chr18:23,764,368...23,775,133
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RT1-Bb
RT1 class II, locus Bb
ISO
DNA:polymorphisms:cds:HLA-DQB1*0301 (human)
RGD
PMID:19922436
RGD:11041754
NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
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Tfpi
tissue factor pathway inhibitor
treatment
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:7740478 PMID:7740478
RGD:11340214
NCBI chr 3:69,533,156...69,582,547
Ensembl chr 3:69,533,156...69,576,880
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Thbd
thrombomodulin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:7740478
NCBI chr 3:135,863,366...135,867,018
Ensembl chr 3:135,862,835...135,867,193
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Adamts13
ADAM metallopeptidase with thrombospondin type 1 motif, 13
treatment
ISO
human protein in a rat model
RGD
PMID:9828246 PMID:26338302
RGD:10449039 , RGD:10449097
NCBI chr 3:10,299,264...10,338,464
Ensembl chr 3:10,300,028...10,346,687
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Vwf
von Willebrand factor
treatment
ISO
RGD
PMID:26863353
RGD:11079195
NCBI chr 4:158,360,152...158,491,539
Ensembl chr 4:158,360,152...158,491,539
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Gata1
GATA binding protein 1
ISO
ClinVar Annotator: match by term: Beta-thalassemia-X-linked thrombocytopenia syndrome
OMIM ClinVar
PMID:871527 PMID:11809723 PMID:12200364 PMID:14691578 PMID:17148589 PMID:17209061 PMID:17881640 PMID:19172521 PMID:20301538 PMID:23704091 PMID:25741868 PMID:28492532 More...
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
ISO
ClinVar Annotator: match by term: Thrombocytopenia, X-linked, intermittent
ClinVar
PMID:11877312
NCBI chr X:14,405,096...14,413,850
Ensembl chr X:14,405,124...14,413,849
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Gata1
GATA binding protein 1
ISO
ClinVar Annotator: match by term: GATA1-Related X-Linked Cytopenia | ClinVar Annotator: match by term: Thrombocytopenia, X-linked, with or without dyserythropoietic anemia | ClinVar Annotator: match by term: Thrombocytopenia, X-linked, without dyserythropoietic anemia DNA:missense mutation: :p.G208S, [622G>T;623G>C] (human) DNA:missense mutation: :p.D218G, 653A>G (human) DNA:missense mutation: :p.M205V, 613G>A (human)
OMIM ClinVar RGD
PMID:871527 PMID:3164080 PMID:10700180 PMID:11418466 PMID:11809723 PMID:12200364 PMID:14691578 PMID:15895080 PMID:16783379 PMID:17148589 PMID:17209061 PMID:17881640 PMID:19172521 PMID:20301538 PMID:20729467 PMID:22706301 PMID:23278136 PMID:23704091 PMID:24453067 PMID:24766296 PMID:24952648 PMID:25741868 PMID:28492532 PMID:29146883 PMID:31064749 PMID:32581362 PMID:34355501 PMID:35030251 PMID:11675338 PMID:11418466 PMID:10700180 More...
RGD:10450749 , RGD:10450743 , RGD:10450740
NCBI chr X:14,529,706...14,537,530
Ensembl chr X:14,529,702...14,537,530
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Zrsr2
zinc finger (CCCH type), RNA binding motif and serine/arginine rich 2
ISO
DNA:missense mutation:multiple (human)
RGD
PMID:28942350
RGD:151232291
NCBI chr X:30,547,424...30,571,613
Ensembl chr X:30,547,536...30,570,125
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all
Path 1
disease
20988
disease of anatomical entity
18178
hematopoietic system disease
3635
blood coagulation disease
929
hemorrhagic disease
884
blood platelet disease
351
thrombocytopenia
265
Acquired Pure Megakaryocytic Aplasia
0
Braddock Carey Syndrome +
1
DK Phocomelia Syndrome
0
Evans' syndrome +
9
Forsythe-Wakeling Syndrome
0
Gardner Morrisson Abbot Syndrome
0
Giant Platelet Syndrome with Thrombocytopenia
1
IVIC syndrome
1
Isolated Macrothrombocytopenia +
2
Jacobsen Syndrome +
68
Kasabach-Merritt Syndrome +
2
MYH-9 related disease +
2
Neonatal Alloimmune Thrombocytopenia
3
Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia +
2
Rhizomelic Osteochondrodysplasia with Callosal Agenesis, Thrombocytopenia, Hydrocephalus, and Hypertension
0
Spastic Paraplegia and Evans Syndrome
0
Takenouchi-Kosaki Syndrome
1
Tetraphocomelia-Thrombocytopenia Syndrome
0
Thrombocytopenia 1
2
Thrombocytopenia 2
3
Thrombocytopenia 3
1
Thrombocytopenia 4
1
Thrombocytopenia 5
1
Thrombocytopenia 6
1
Thrombocytopenia 7
2
Thrombocytopenia Absent Ulnar Syndrome
0
Thrombocytopenia with Elevated Serum Iga and Renal Disease
0
Thrombocytopenia, Anemia, and Myelofibrosis
1
Thrombocytopenia, Cyclic
0
Thrombotic Microangiopathies +
89
X-Linked Thrombocytopenia, Intermittent
1
X-Linked Thrombocytopenia, with or without Dyserythropoietic Anemia
2
X-linked thrombocytopenia with beta-thalassemia
1
acquired thrombocytopenia +
10
congenital amegakaryocytic thrombocytopenia
1
congenital disorder of glycosylation Ix
1
platelet-type bleeding disorder 15
2
platelet-type bleeding disorder 17
1
platelet-type bleeding disorder 9
2
thrombocytopenia due to platelet alloimmunization +
4
thrombocytopenia-absent radius syndrome
26
transient neonatal thrombocytopenia
0
Path 2
disease
20988
disease of anatomical entity
18178
Hemic and Lymphatic Diseases
4133
hematopoietic system disease
3635
blood coagulation disease
929
hemorrhagic disease
884
blood platelet disease
351
thrombocytopenia
265
Acquired Pure Megakaryocytic Aplasia
0
Braddock Carey Syndrome +
1
DK Phocomelia Syndrome
0
Evans' syndrome +
9
Forsythe-Wakeling Syndrome
0
Gardner Morrisson Abbot Syndrome
0
Giant Platelet Syndrome with Thrombocytopenia
1
IVIC syndrome
1
Isolated Macrothrombocytopenia +
2
Jacobsen Syndrome +
68
Kasabach-Merritt Syndrome +
2
MYH-9 related disease +
2
Neonatal Alloimmune Thrombocytopenia
3
Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia +
2
Rhizomelic Osteochondrodysplasia with Callosal Agenesis, Thrombocytopenia, Hydrocephalus, and Hypertension
0
Spastic Paraplegia and Evans Syndrome
0
Takenouchi-Kosaki Syndrome
1
Tetraphocomelia-Thrombocytopenia Syndrome
0
Thrombocytopenia 1
2
Thrombocytopenia 2
3
Thrombocytopenia 3
1
Thrombocytopenia 4
1
Thrombocytopenia 5
1
Thrombocytopenia 6
1
Thrombocytopenia 7
2
Thrombocytopenia Absent Ulnar Syndrome
0
Thrombocytopenia with Elevated Serum Iga and Renal Disease
0
Thrombocytopenia, Anemia, and Myelofibrosis
1
Thrombocytopenia, Cyclic
0
Thrombotic Microangiopathies +
89
X-Linked Thrombocytopenia, Intermittent
1
X-Linked Thrombocytopenia, with or without Dyserythropoietic Anemia
2
X-linked thrombocytopenia with beta-thalassemia
1
acquired thrombocytopenia +
10
congenital amegakaryocytic thrombocytopenia
1
congenital disorder of glycosylation Ix
1
platelet-type bleeding disorder 15
2
platelet-type bleeding disorder 17
1
platelet-type bleeding disorder 9
2
thrombocytopenia due to platelet alloimmunization +
4
thrombocytopenia-absent radius syndrome
26
transient neonatal thrombocytopenia
0