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RGD DISEASE ONTOLOGY - ANNOTATIONS

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

Term:thrombocytopenia
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Accession:DOID:1588 term browser browse the term
Definition:A blood platelet disease that is characterized by low a platelet count in the blood. (DO)
Synonyms:exact_synonym: thrombocytopenias;   thrombopenia;   thrombopenias
 primary_id: MESH:D013921
 xref: ICD10CM:D69.6;   ICD9CM:287.5;   MIM:PS313900;   MIM:PS613112;   ORDO:852
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
thrombocytopenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcg5 ATP binding cassette subfamily G member 5 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:25741868 PMID:28492532 PMID:31064749 PMID:32088153 NCBI chr 6:9,965,118...9,990,563
Ensembl chr 6:9,965,118...9,990,563
JBrowse link
G Abcg8 ATP binding cassette subfamily G member 8 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:25741868 PMID:28492532 PMID:32935436 NCBI chr 6:9,945,629...9,964,912
Ensembl chr 6:9,945,629...9,964,912
JBrowse link
G Acbd5 acyl-CoA binding domain containing 5 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:25741868 PMID:28492532 NCBI chr17:85,206,178...85,248,909
Ensembl chr17:85,206,303...85,248,215
JBrowse link
G Actb actin, beta ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:10411937 PMID:25255767 PMID:25741868 PMID:30315159 NCBI chr12:11,663,112...11,666,697
Ensembl chr12:11,663,109...11,672,877
JBrowse link
G Actn1 actinin, alpha 1 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:23434115 PMID:24069336 PMID:25361813 PMID:25741868 PMID:28492532 More... NCBI chr 6:98,998,553...99,093,334
Ensembl chr 6:98,998,556...99,093,251
JBrowse link
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
JBrowse link
G Alb albumin ISO CTD Direct Evidence: marker/mechanism CTD PMID:6734075 NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836
JBrowse link
G Ankrd26 ankyrin repeat domain containing 26 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:10521306 PMID:20626622 PMID:21211618 PMID:21467542 PMID:22672365 More... NCBI chr 4:151,670,604...151,740,032
Ensembl chr 4:151,672,037...151,739,968
JBrowse link
G Ap3b1 adaptor related protein complex 3 subunit beta 1 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:25741868 PMID:28492532 PMID:32935436 NCBI chr 2:25,600,069...25,800,937
Ensembl chr 2:25,600,040...25,800,935
JBrowse link
G Aspg asparaginase ISO CTD Direct Evidence: marker/mechanism CTD PMID:2187653 NCBI chr 6:131,176,727...131,196,268
Ensembl chr 6:131,176,874...131,196,268
JBrowse link
G Brip1 BRCA1 interacting helicase 1 ISO human gene in a mouse model RGD PMID:15613547 RGD:11252148 NCBI chr10:70,907,266...71,031,502
Ensembl chr10:70,907,371...71,030,324
JBrowse link
G Cbr1 carbonyl reductase 1 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:32581362 NCBI chr11:32,860,571...32,862,981
Ensembl chr11:32,908,950...32,911,393
Ensembl chr11:32,908,950...32,911,393
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 ISO associated with Lupus Erythematosus, Systemic;DNA:snp:promoter:g.-2518A>G (human) RGD PMID:20414371 RGD:11528535 NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
JBrowse link
G Cd40lg CD40 ligand treatment ISO associated with Malaria RGD PMID:11865192 RGD:11352243 NCBI chr  X:135,127,052...135,138,768
Ensembl chr  X:135,126,969...135,138,306
JBrowse link
G Chek2 checkpoint kinase 2 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:10617473 PMID:11053450 PMID:11479205 PMID:11719428 PMID:11967536 More... NCBI chr12:45,788,823...45,821,382
Ensembl chr12:45,788,827...45,821,286
JBrowse link
G Clic6 chloride intracellular channel 6 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:32581362 NCBI chr11:31,737,813...31,780,360
Ensembl chr11:31,737,813...31,780,061
JBrowse link
G Col5a1 collagen type V alpha 1 chain ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:28492532 PMID:29924831 NCBI chr 3:11,208,429...11,356,715
Ensembl chr 3:11,208,512...11,354,588
JBrowse link
G Col5a2 collagen type V alpha 2 chain ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:47,448,741...47,598,134
Ensembl chr 9:47,448,736...47,598,154
JBrowse link
G Csf2 colony stimulating factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8297739 NCBI chr10:38,386,945...38,388,926
Ensembl chr10:38,386,945...38,389,199
JBrowse link
G Csf3 colony stimulating factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:7543699 PMID:12085204 NCBI chr10:83,660,787...83,664,569
Ensembl chr10:83,661,207...83,663,603
JBrowse link
G Cycs cytochrome c, somatic no_association ISO DNA:transition mutation:exon:p.G41S(human)
ClinVar Annotator: match by term: Thrombocytopenia
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:18345000 PMID:22102269 PMID:24326104 PMID:25741868 PMID:28492532 More... RGD:11352700, RGD:11352702 NCBI chr 4:79,651,894...79,653,994
Ensembl chr 4:79,651,378...79,654,054
Ensembl chr18:79,651,378...79,654,054
JBrowse link
G Dync2li1 dynein cytoplasmic 2 light intermediate chain 1 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:25741868 PMID:28492532 PMID:31064749 PMID:32088153 NCBI chr 6:9,992,537...10,025,355
Ensembl chr 6:9,992,541...10,025,336
JBrowse link
G Epo erythropoietin ISO CTD Direct Evidence: therapeutic CTD PMID:8260696 NCBI chr12:19,204,258...19,207,948
Ensembl chr12:19,204,508...19,207,946
JBrowse link
G Etv6 ETS variant transcription factor 6 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Thrombocytopenia
CTD
ClinVar
PMID:9694803 PMID:15806161 PMID:18305557 PMID:21680795 PMID:21714648 More... NCBI chr 4:166,849,031...167,085,211
Ensembl chr 4:166,847,686...167,084,992
JBrowse link
G F10 coagulation factor X ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar NCBI chr16:76,468,834...76,488,141
Ensembl chr16:76,468,838...76,488,141
JBrowse link
G F11 coagulation factor XI ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:2052060 PMID:2813350 PMID:9326232 PMID:10593931 PMID:15026311 More... NCBI chr16:46,987,988...47,009,015
Ensembl chr16:46,986,107...47,008,437
JBrowse link
G F5 coagulation factor V ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:25741868 PMID:28492532 PMID:34355501 NCBI chr13:76,513,509...76,583,106
Ensembl chr13:76,513,255...76,582,317
JBrowse link
G F7 coagulation factor VII treatment ISO human protein in a rat model RGD PMID:19175492 RGD:11049531 NCBI chr16:76,489,775...76,500,636
Ensembl chr16:76,489,717...76,500,610
JBrowse link
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
JBrowse link
G Fga fibrinogen alpha chain treatment IMP
ISO
ClinVar Annotator: match by term: Thrombocytopenia ClinVar
RGD
PMID:25741868 PMID:28492532 PMID:2005585 RGD:10755505 NCBI chr 2:168,374,120...168,381,523
Ensembl chr 2:168,374,120...168,381,528
JBrowse link
G Fgb fibrinogen beta chain ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:10688828 PMID:19420351 PMID:20978265 PMID:24033266 PMID:25741868 More... NCBI chr 2:168,394,901...168,402,863
Ensembl chr 2:168,394,916...168,405,979
JBrowse link
G Fgg fibrinogen gamma chain ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:10688828 PMID:15795540 PMID:17938819 PMID:19300242 PMID:21228398 More... NCBI chr 2:168,354,880...168,362,325
Ensembl chr 2:168,355,013...168,362,322
JBrowse link
G Fli1 Fli-1 proto-oncogene, ETS transcription factor ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar
RGD
PMID:24100448 PMID:32581362 PMID:15232614 RGD:1582490 NCBI chr 8:30,831,422...30,950,468
Ensembl chr 8:30,832,753...30,950,433
JBrowse link
G Flna filamin A ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:18414213 PMID:21836662 PMID:25741868 PMID:26467025 PMID:28492532 More... NCBI chr  X:152,007,758...152,034,266
Ensembl chr  X:152,007,758...152,031,052
JBrowse link
G Gata1 GATA binding protein 1 ISO
ISS
OMIM:188000 | OMIM:273900 | OMIM:300367 | OMIM:313900 | OMIM:612004
ClinVar Annotator: match by term: Thrombocytopenia
CTD Direct Evidence: marker/mechanism
MouseDO
ClinVar
CTD
RGD
PMID:11418466 PMID:16966598 PMID:20301538 PMID:23278136 PMID:25741868 More... RGD:10450735 NCBI chr  X:14,529,706...14,537,530
Ensembl chr  X:14,529,702...14,537,530
JBrowse link
G Gba1 glucosylceramidase beta 1 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:1348297 PMID:1897529 PMID:1899336 PMID:1971142 PMID:2117855 More... NCBI chr 2:174,609,437...174,615,457
Ensembl chr 2:174,609,403...174,618,263
JBrowse link
G Gfi1b growth factor independent 1B transcriptional repressor ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:25741868 PMID:31064749 NCBI chr 3:11,940,232...11,952,989
Ensembl chr 3:11,940,233...11,952,942
JBrowse link
G 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
JBrowse link
G Gne glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:24796702 PMID:25741868 PMID:26980148 PMID:28320138 PMID:28492532 More... NCBI chr 5:58,267,189...58,307,396
Ensembl chr 5:58,267,210...58,307,499
JBrowse link
G Gp1ba glycoprotein Ib platelet subunit alpha ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar
RGD
PMID:8384898 PMID:25741868 PMID:29082515 PMID:31064749 PMID:34355501 More... RGD:10450849 NCBI chr10:55,352,938...55,355,804
Ensembl chr10:55,352,899...55,356,774
JBrowse link
G Gp1bb glycoprotein Ib platelet subunit beta ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Thrombocytopenia
CTD
ClinVar
PMID:10887115 PMID:15213848 PMID:25741868 PMID:31064749 PMID:32581362 More... NCBI chr11:82,378,216...82,379,393
Ensembl chr11:82,378,199...82,379,392
JBrowse link
G Gp9 glycoprotein IX (platelet) ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Thrombocytopenia
CTD
ClinVar
PMID:8049428 PMID:8481514 PMID:14510954 PMID:15225244 PMID:25370924 More... NCBI chr 4:120,235,500...120,237,110
Ensembl chr 4:120,235,421...120,237,110
JBrowse link
G Hps5 HPS5, biogenesis of lysosomal organelles complex 2 subunit 2 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 1:97,281,626...97,320,945
Ensembl chr 1:97,247,598...97,321,019
JBrowse link
G Ifnl3 interferon, lambda 3 treatment ISO associated with Hepatitis C, Chronic;DNA:SNP: :rs8099917(human) RGD PMID:24304453 RGD:11528555 NCBI chr 1:83,814,456...83,816,096
Ensembl chr 1:83,814,564...83,816,096
JBrowse link
G Il10 interleukin 10 severity ISO associated with Malaria, Vivax RGD PMID:25128199 PMID:11091188 RGD:11041893, RGD:11049172 NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
JBrowse link
G Il1b interleukin 1 beta treatment ISO RGD PMID:1331350 RGD:10450883 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
JBrowse link
G Il3 interleukin 3 ISO CTD Direct Evidence: therapeutic CTD PMID:8202718 NCBI chr10:38,405,716...38,408,066
Ensembl chr10:38,405,716...38,408,066
JBrowse link
G Il6 interleukin 6 severity ISO associated with Malaria, Vivax RGD PMID:25128199 RGD:11041893 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
JBrowse link
G Itga2 integrin subunit alpha 2 ISO associated with Hantavirus Infections;DNA:SNP: :807C>T (rs1126643) (human) RGD PMID:22133274 RGD:11530072 NCBI chr 2:46,520,345...46,621,487
Ensembl chr 2:46,523,948...46,621,481
JBrowse link
G Itga2b integrin subunit alpha 2b ISO DNA:missense mutation: :p.R995W (human)
ClinVar Annotator: match by term: Thrombocytopenia
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:1638023 PMID:9215749 PMID:9834222 PMID:15225244 PMID:18065693 More... RGD:10755467 NCBI chr10:87,408,532...87,426,055
Ensembl chr10:87,408,536...87,426,168
JBrowse link
G Itgb3 integrin subunit beta 3 ISO DNA:splice-site mutation:intron:c.2134+1G>C (human)
ClinVar Annotator: match by term: Thrombocytopenia
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:15225244 PMID:25741868 PMID:28492532 PMID:31064749 PMID:32581362 More... RGD:10755449 NCBI chr10:89,509,917...89,564,679
Ensembl chr10:89,509,989...89,564,679
JBrowse link
G Itpa inosine triphosphatase treatment ISO associated with Hepatitis C;DNA:missense mutation, splice-site mutaion:exon, intron:p.P32T (rs1127354), rs7270101 (human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:18662289 PMID:24519039 RGD:10766473 NCBI chr 3:117,885,464...117,897,247
Ensembl chr 3:117,885,099...117,897,249
JBrowse link
G Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:32581362 NCBI chr11:31,580,951...31,594,116
Ensembl chr11:31,580,742...31,593,901
JBrowse link
G Kcne2 potassium voltage-gated channel subfamily E regulatory subunit 2 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:32581362 NCBI chr11:31,517,176...31,530,026
Ensembl chr11:31,295,614...31,530,043
JBrowse link
G Mastl microtubule associated serine/threonine kinase-like ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar
RGD
PMID:25741868 PMID:28492532 PMID:12890928 RGD:1598951 NCBI chr17:85,250,512...85,287,479
Ensembl chr17:85,251,997...85,287,353
JBrowse link
G Mbl2 mannose binding lectin 2 susceptibility ISO associated with Dengue;DNA:SNP:exon: RGD PMID:18361938 RGD:11530042 NCBI chr 1:228,016,439...228,024,736 JBrowse link
G Mcfd2 multiple coagulation factor deficiency 2, ER cargo receptor complex subunit 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
JBrowse link
G Mecom MDS1 and EVI1 complex locus ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:32581362 NCBI chr 2:112,909,353...113,464,583
Ensembl chr 2:112,909,321...113,464,590
JBrowse link
G Mpl MPL proto-oncogene, thrombopoietin receptor ameliorates ISO
IEP
congenital amegakaryocytic thrombocytopenia, OMIM:604498, DNA:point mutation:Q186X, frameshift:1499delT
ClinVar Annotator: match by term: Thrombocytopenia
associated with End Stage Liver Disease
associated with Lupus Erythematosus, Systemic
protein:decreased expression:blood, platelet (rat)
ClinVar
RGD
PMID:971406 PMID:8073287 PMID:10971406 PMID:11133753 PMID:11972523 More... RGD:1600454, RGD:126925754, RGD:10449017, RGD:10449011, RGD:10448997 NCBI chr 5:131,973,895...131,987,472
Ensembl chr 5:131,973,895...131,986,797
JBrowse link
G Mrps6 mitochondrial ribosomal protein S6 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:32581362 NCBI chr11:31,295,358...31,348,483
Ensembl chr11:31,295,614...31,348,484
JBrowse link
G Mthfr methylenetetrahydrofolate reductase no_association ISO associated with Precursor Cell Lymphoblastic Leukemia-Lymphoma;DNA:SNP: :1298A>C (human)
CTD Direct Evidence: marker/mechanism
associated with Precursor Cell Lymphoblastic Leukemia-Lymphoma;DNA:SNP: :677C>T, 1793G>A (human)
CTD
RGD
PMID:19391036 PMID:23498762 PMID:23498762 RGD:10449418, RGD:10449418 NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
JBrowse link
G Myh9 myosin, heavy chain 9 ISO May-Hegglin anomaly, OMIM:155100, DNA:point mutation:exon:R1933X
ClinVar Annotator: match by term: Thrombocytopenia
ClinVar
RGD
PMID:1449176 PMID:10973259 PMID:11159552 PMID:11590545 PMID:11776386 More... RGD:1600553 NCBI chr 7:109,343,718...109,424,457
Ensembl chr 7:109,343,706...109,424,457
JBrowse link
G Nbeal2 neurobeachin-like 2 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:110,603,220...110,633,612
Ensembl chr 8:110,599,389...110,633,707
JBrowse link
G Nsd2 nuclear receptor binding SET domain protein 2 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:25741868 NCBI chr14:76,833,179...76,911,304
Ensembl chr14:76,835,637...76,913,641
JBrowse link
G P2ry12 purinergic receptor P2Y12 ISO associated with Thrombosis RGD PMID:21652673 RGD:6480523 NCBI chr 2:143,481,468...143,523,340
Ensembl chr 2:143,481,430...143,523,361
JBrowse link
G Pecam1 platelet and endothelial cell adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10848805 NCBI chr10:91,590,521...91,652,279
Ensembl chr10:91,590,521...91,652,116
JBrowse link
G Pf4 platelet factor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8282825 PMID:9158107 PMID:9446652 PMID:10381515 PMID:11588041 More... NCBI chr14:17,298,304...17,299,220
Ensembl chr14:17,298,308...17,299,365
JBrowse link
G Plcb2 phospholipase C, beta 2 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:25741868 NCBI chr 3:105,683,676...105,704,384
Ensembl chr 3:105,684,815...105,704,302
JBrowse link
G Plg plasminogen ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:25741868 PMID:28492532 PMID:34355501 NCBI chr 1:48,325,186...48,367,643
Ensembl chr 1:48,325,185...48,367,786
JBrowse link
G 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 More... NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925
JBrowse link
G Rcan1 regulator of calcineurin 1 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:32581362 NCBI chr11:31,622,208...31,702,150
Ensembl chr11:31,622,210...31,702,045
JBrowse link
G RT1-CE16 RT1 class I, locus CE16 ISO CTD Direct Evidence: marker/mechanism CTD PMID:3459889 NCBI chr20:3,257,109...3,260,747
Ensembl chr20:3,257,123...3,279,563
JBrowse link
G 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 More... RGD:11251691 NCBI chr11:31,839,880...32,074,427
Ensembl chr11:31,843,764...32,074,542
JBrowse link
G Setd4 SET domain containing 4 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:32581362 NCBI chr11:32,829,509...32,859,162
Ensembl chr11:32,838,063...32,858,243
JBrowse link
G Slc4a1 solute carrier family 4 member 1 (Diego blood group) ISO mRNA:decreased expression:erythrocyte (mouse) RGD PMID:22279059 RGD:10450520 NCBI chr10:87,306,865...87,323,132
Ensembl chr10:87,306,872...87,323,117
JBrowse link
G Slc5a3 solute carrier family 5 member 3 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:32581362 NCBI chr11:31,313,847...31,316,293
Ensembl chr11:31,295,476...31,318,883
JBrowse link
G Smim11 small integral membrane protein 11 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:32581362 NCBI chr11:31,533,257...31,543,002
Ensembl chr11:31,532,764...31,543,002
JBrowse link
G Sparc secreted protein acidic and cysteine rich ISO CTD Direct Evidence: marker/mechanism CTD PMID:27725143 NCBI chr10:39,516,394...39,538,252
Ensembl chr10:39,516,406...39,538,396
JBrowse link
G Stxbp2 syntaxin binding protein 2 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:24916509 PMID:25741868 PMID:28492532 PMID:32256442 PMID:32935436 More... NCBI chr12:1,689,364...1,701,145
Ensembl chr12:1,689,410...1,700,458
JBrowse link
G Tbxa2r thromboxane A2 receptor IMP RGD PMID:2528013 RGD:11059527 NCBI chr 7:8,383,347...8,390,753
Ensembl chr 7:8,383,378...8,388,176
JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO protein:decreased expression:plasma: RGD PMID:22134166 RGD:11073617 NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
JBrowse link
G Thbd thrombomodulin ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:10102456 PMID:11552992 PMID:11986219 PMID:19625716 PMID:20595690 More... NCBI chr 3:135,863,366...135,867,018
Ensembl chr 3:135,862,835...135,867,193
JBrowse link
G Thpo thrombopoietin ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:25741868 PMID:28466964 PMID:28559357 PMID:31064749 PMID:32150607 Ensembl chr11:80,182,820...80,188,167 JBrowse link
G Tnf tumor necrosis factor severity ISO associated with Hemorrhagic Fever with Renal Syndrome;DNA:SNP:promoter:-238G>A (human)
associated with Malaria, Vivax
RGD PMID:16987073 PMID:25128199 RGD:10449459, RGD:11041893 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
JBrowse link
G Tnfrsf10b TNF receptor superfamily member 10b ISO CTD Direct Evidence: marker/mechanism CTD PMID:19652058 NCBI chr15:44,840,386...44,868,318
Ensembl chr15:44,840,386...44,867,467
JBrowse link
G Tubb1 tubulin, beta 1 class VI ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:24777453 PMID:25741868 PMID:27346686 PMID:28054583 PMID:28492532 More... NCBI chr 3:163,247,990...163,257,460
Ensembl chr 3:163,247,967...163,256,063
JBrowse link
G Vps33b VPS33B, late endosome and lysosome associated ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:134,223,967...134,247,232
Ensembl chr 1:134,223,949...134,246,970
JBrowse link
G Vwf von Willebrand factor ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:1581215 PMID:1832934 PMID:1906877 PMID:1918030 PMID:3259690 More... NCBI chr 4:158,360,152...158,491,539
Ensembl chr 4:158,360,152...158,491,539
JBrowse link
G Was WASP actin nucleation promoting factor ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:7753869 PMID:8666397 PMID:8757563 PMID:9326235 PMID:11167787 More... NCBI chr  X:14,405,105...14,413,850
Ensembl chr  X:14,405,124...14,413,849
JBrowse link
G Wdr1 WD repeat domain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17515402 NCBI chr14:72,258,032...72,291,768
Ensembl chr14:72,257,956...72,291,766
JBrowse link
G Wfdc21 WAP four-disulfide core domain 21 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:10887115 PMID:25741868 PMID:31064749 PMID:32581362 PMID:34355501 NCBI chr10:68,627,836...68,633,705
Ensembl chr10:68,627,820...68,633,701
JBrowse link
G Xdh xanthine dehydrogenase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Thrombocytopenia
CTD
ClinVar
PMID:2510358 PMID:25741868 PMID:28492532 PMID:30755392 NCBI chr 6:21,530,463...21,592,172
Ensembl chr 6:21,530,113...21,592,268
JBrowse link
atypical hemolytic-uremic syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamts13 ADAM metallopeptidase with thrombospondin type 1 motif, 13 ISO protein:decreased activity:serum (human)
ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome
ClinVar
RGD
PMID:1787257 PMID:12753286 PMID:17187257 PMID:17627784 PMID:19847791 More... RGD:10449096 NCBI chr 3:10,299,264...10,338,464
Ensembl chr 3:10,300,028...10,346,687
JBrowse link
G Baat bile acid CoA:amino acid N-acyltransferase ISO ClinVar Annotator: match by term: 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
JBrowse link
G C1galt1c1 C1GALT1-specific chaperone 1 ISO ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:25741868 PMID:36599939 NCBI chr  X:117,378,123...117,382,620
Ensembl chr  X:117,375,525...117,382,787
JBrowse link
G 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 More... NCBI chr20:3,951,474...3,970,376
Ensembl chr20:3,951,474...3,976,505
JBrowse link
G C3 complement C3 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 | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1
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
CTD Direct Evidence: marker/mechanism
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: Familial Atypical Hemolytic-Uremic Syndrome | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1
DNA:missense mutations: :p.F603V, p.R1042L, p.I1157T (human)
OMIM
ClinVar
CTD
RGD
PMID:1976733 PMID:9536098 PMID:12462331 PMID:14639503 PMID:17576681 More... RGD:7364995, RGD:11040768 NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429
JBrowse link
G C3ar1 complement C3a receptor 1 ISO ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1 ClinVar NCBI chr 4:156,074,747...156,084,680
Ensembl chr 4:156,075,389...156,084,701
JBrowse link
G Cd46 CD46 molecule 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: CD46-related condition | 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: 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, 2 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome | ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome | ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome | ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2
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:9536098 PMID:9551389 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
JBrowse link
G 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 More... NCBI chr 7:35,310,071...35,399,388
Ensembl chr 7:35,310,199...35,399,392
JBrowse link
G Cfb complement factor B 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: Hemolytic uremic syndrome, atypical, susceptibility to, 1
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: AHUS, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome
CTD Direct Evidence: marker/mechanism
DNA:nonsense mutations: :multiple
OMIM
ClinVar
CTD
RGD
PMID:1577763 PMID:2249879 PMID:6308626 PMID:7452889 PMID:8181962 More... RGD:7242707, RGD:11040768 NCBI chr20:3,970,643...3,976,510
Ensembl chr20:3,951,474...3,976,505
JBrowse link
G Cfh complement factor H ISO
ISS
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, 3 | 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, 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: Familial 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: 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: 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: 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, 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::
OMIM
ClinVar
MouseDO
CTD
RGD
PMID:646435 PMID:8072530 PMID:9536098 PMID:9551389 PMID:9811382 More... RGD:1599886, RGD:11041172, RGD:11041162, RGD:11040768, RGD:7364995, RGD:7364995, RGD:7364995 NCBI chr13:51,512,376...51,613,829
Ensembl chr13:51,511,828...51,613,838
JBrowse link
G Cfhr1 complement factor H-related 1 susceptibility ISO DNA:deletion
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1
OMIM
CTD
ClinVar
RGD
PMID:16998489 PMID:17367211 PMID:18006700 PMID:20843825 PMID:25741868 More... RGD:11041162 NCBI chr13:51,395,583...51,410,571
Ensembl chr13:51,369,211...51,410,592
JBrowse link
G 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
JBrowse link
G Cfi complement factor I ISO 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, 3 | 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: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by 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
OMIM
ClinVar
CTD
RGD
PMID:849647 PMID:8613545 PMID:9536098 PMID:15173250 PMID:15917334 More... RGD:6906889 NCBI chr 2:218,389,079...218,430,565
Ensembl chr 2:218,387,990...218,430,561
JBrowse link
G 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 More... NCBI chr 9:83,875,849...84,004,955
Ensembl chr 9:83,875,561...84,001,895
JBrowse link
G 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 More... NCBI chr 9:83,833,173...83,875,436
Ensembl chr 9:83,755,515...83,875,876
JBrowse link
G Col4a5 collagen type IV alpha 5 chain ISO ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:7599631 PMID:7695699 PMID:8218237 PMID:8651296 PMID:8940267 More... NCBI chr  X:105,118,762...105,322,699
Ensembl chr  X:105,118,820...105,322,692
JBrowse link
G Dgke diacylglycerol kinase epsilon ISO 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 More... NCBI chr10:73,853,030...73,877,334
Ensembl chr10:73,855,583...73,877,100
JBrowse link
G Hbb hemoglobin subunit beta ISO ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:893142 PMID:1726094 PMID:7558877 PMID:25741868 NCBI chr 1:158,250,421...158,251,832
Ensembl chr 1:158,120,200...158,252,012
JBrowse link
G 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
JBrowse link
G Mmachc metabolism of cobalamin associated C ISO ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5
ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome
ClinVar PMID:16311595 PMID:16714133 PMID:17768669 PMID:17853453 PMID:18164228 More... NCBI chr 5:130,166,056...130,172,735
Ensembl chr 5:130,166,451...130,172,601
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G Pla2r1 phospholipase A2 receptor 1 ISO 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
JBrowse link
G 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
JBrowse link
G Smarcal1 Swi/SNF related matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 ISO ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:28492532 PMID:28844315 NCBI chr 9:74,239,718...74,286,156
Ensembl chr 9:74,240,241...74,286,146
JBrowse link
G Thbd thrombomodulin severity
no_association
ISO 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: Hemolytic uremic syndrome, atypical, susceptibility to, 1
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
OMIM
ClinVar
CTD
RGD
PMID:7811989 PMID:9157575 PMID:9198186 PMID:9236408 PMID:10102456 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G Wt1 WT1 transcription factor ISO ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:18559874 PMID:18591546 PMID:19171881 PMID:19221039 PMID:19494353 More... NCBI chr 3:91,566,540...91,613,653
Ensembl chr 3:91,567,001...91,613,643
JBrowse link
autoimmune thrombocytopenic purpura term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamts13 ADAM metallopeptidase with thrombospondin type 1 motif, 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19260037 NCBI chr 3:10,299,264...10,338,464
Ensembl chr 3:10,300,028...10,346,687
JBrowse link
G Alb albumin ISO RGD PMID:6683982 RGD:11036083 NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836
JBrowse link
G Cd40 CD40 molecule ISO protein:increased expression:peripheral blood, B lymphocyte (human) RGD PMID:17654056 RGD:11344977 NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
JBrowse link
G Cd40lg CD40 ligand treatment ISO protein:increased expression:peripheral blood, T lymphocyte (human)
protein:decreased expression:serum (mouse)
RGD PMID:17654056 PMID:22537155 PMID:18341638 PMID:16188945 RGD:11344977, RGD:11352267, RGD:11352237, RGD:11344980 NCBI chr  X:135,127,052...135,138,768
Ensembl chr  X:135,126,969...135,138,306
JBrowse link
G Cd86 CD86 molecule treatment ISO protein:increased expression:peripheral blood mononuclear cell (human) RGD PMID:19379594 PMID:20581660 RGD:11354966, RGD:11520785 NCBI chr11:64,142,193...64,200,816
Ensembl chr11:64,163,828...64,200,818
JBrowse link
G Dnmt3a DNA methyltransferase 3 alpha ISO mRNA:decreased expression:mononuclear cell RGD PMID:18683034 RGD:9588662 NCBI chr 6:26,791,517...26,902,161
Ensembl chr 6:26,822,609...26,896,687
JBrowse link
G Dnmt3b DNA methyltransferase 3 beta susceptibility ISO mRNA:decreased expression:mononuclear cell
DNA:SNP:promoter: -579G>T(human)
RGD PMID:18683034 PMID:23000068 RGD:9588662, RGD:9589094 NCBI chr 3:142,130,588...142,169,128
Ensembl chr 3:142,130,592...142,169,124
JBrowse link
G Fas Fas cell surface death receptor ISO protein:increased expression:serum: RGD PMID:10776692 RGD:11049162 NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
JBrowse link
G Fcgr2a Fc gamma receptor 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
JBrowse link
G 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...83,207,778
Ensembl chr13:83,193,163...83,207,778
JBrowse link
G Fcgr3a Fc gamma receptor 3A treatment
susceptibility
ISO DNA:SNP:cds:p.V158F(human)
DNA:SNP:exon:p.F158V (rs396991) (human)
RGD PMID:11380443 PMID:23484707 PMID:22123287 PMID:15479722 RGD:11040776, RGD:11352255, RGD:11040989, RGD:11344926 NCBI chr13:83,249,905...83,259,921
Ensembl chr13:83,249,872...83,259,921
JBrowse link
G Gp1ba glycoprotein Ib platelet subunit alpha ISO RGD PMID:16861348 RGD:10450841 NCBI chr10:55,352,938...55,355,804
Ensembl chr10:55,352,899...55,356,774
JBrowse link
G Il10 interleukin 10 disease_progression ISO DNA:SNP:promoter:-627C>A (human)
DNA:SNPs, haplotypes:promoter:-1082A>G, -819C>T, -592C>A (human)
RGD PMID:25051072 PMID:22677268 RGD:11041894, RGD:11046267 NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
JBrowse link
G Il18 interleukin 18 ISO protein:increased expression:plasma: RGD PMID:24801815 RGD:11073600 NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
JBrowse link
G Il1a interleukin 1 alpha ISO DNA:SNP:promoter:-899C>T (human) RGD PMID:21591983 RGD:11051966 NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
JBrowse link
G Il1rn interleukin 1 receptor antagonist susceptibility ISO DNA:repeats:: RGD PMID:20626741 RGD:11528541 NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
JBrowse link
G Il2 interleukin 2 susceptibility ISO DNA:polymorphism::-330T>G(human) RGD PMID:20626741 RGD:11528541 NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
JBrowse link
G Il4 interleukin 4 disease_progression ISO DNA:repeat:intron RGD PMID:25051072 RGD:11041894 NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
JBrowse link
G Itgb3 integrin subunit beta 3 ISO RGD PMID:10936026 PMID:24258817 RGD:10755473, RGD:10755475 NCBI chr10:89,509,917...89,564,679
Ensembl chr10:89,509,989...89,564,679
JBrowse link
G Mir130a microRNA 130a ISO RNA:decreased expression:PBMC RGD PMID:24801815 RGD:11073600 NCBI chr 3:69,822,542...69,822,629
Ensembl chr 3:69,822,542...69,822,629
JBrowse link
G Mir3581 microRNA 3581 treatment ISO RGD PMID:23360331 RGD:10755694 NCBI chr 6:128,757,779...128,757,858
Ensembl chr 6:128,757,779...128,757,858
JBrowse link
G Mir409 microRNA 409 treatment ISO RGD PMID:23360331 RGD:10755694 NCBI chr 6:128,757,780...128,757,856
Ensembl chr 6:128,757,779...128,757,858
JBrowse link
G Plat plasminogen activator, tissue type ISO protein:increased expression:plasma (human) RGD PMID:2129164 RGD:11541072 NCBI chr16:69,240,582...69,265,177
Ensembl chr16:69,240,585...69,268,223
JBrowse link
G Ptpn22 protein tyrosine phosphatase, non-receptor type 22 no_association ISO DNA: snp: cds: C1858T
DNA:snp:cds:c.1858C>T (rs2476601) (human)
RGD PMID:21597364 PMID:27309885 RGD:6484673, RGD:11535019 NCBI chr 2:191,366,761...191,414,782
Ensembl chr 2:191,366,808...191,414,779
JBrowse link
G RT1-Bb RT1 class II, locus Bb treatment ISO DNA:polymorphisms:cds:HLA-DQB1*0401 (human) RGD PMID:10435723 RGD:11041758 NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
JBrowse link
G RT1-Db1 RT1 class II, locus Db1 treatment ISO DNA:polymorphisms:cds:HLA-DRB1*0901, HLA-DRB1*0410 (human) RGD PMID:10435723 RGD:11041758 NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
JBrowse link
G Socs1 suppressor of cytokine signaling 1 ISO ClinVar Annotator: match by term: Autoimmune thrombocytopenia | ClinVar Annotator: match by term: Autoimmune thrombocytopenic purpura ClinVar PMID:32853638 PMID:33087723 NCBI chr10:4,882,651...4,884,342
Ensembl chr10:4,882,560...4,884,383
JBrowse link
G Tgfb1 transforming growth factor, beta 1 disease_progression ISO mRNA:increased expression: :
protein:decreased expression:plasma:
RGD PMID:11886393 PMID:24763013 PMID:24801815 RGD:11073598, RGD:11073603, RGD:11073600 NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
JBrowse link
autosomal dominant macrothrombocytopenia TUBB1-related term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tubb1 tubulin, beta 1 class VI ISO ClinVar Annotator: match by term: Macrothrombocytopenia, isolated, 1, autosomal dominant | ClinVar Annotator: match by term: TUBB1-related condition
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:4516618 PMID:18849486 PMID:24344610 PMID:24777453 PMID:25741868 More... NCBI chr 3:163,247,990...163,257,460
Ensembl chr 3:163,247,967...163,256,063
JBrowse link
autosomal dominant nonsyndromic deafness 17 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myh9 myosin, heavy chain 9 ISO ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 17 | ClinVar Annotator: match by term: Deafness, autosomal dominant 17 | ClinVar Annotator: match by term: Deafness, autosomal dominant nonsyndromic sensorineural 17 | ClinVar Annotator: match by term: Late-onset progressive hereditary hearing impairment due to cochleosaccular degeneration
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:1449176 PMID:5011389 PMID:8280620 PMID:9390828 PMID:10603121 More... NCBI chr 7:109,343,718...109,424,457
Ensembl chr 7:109,343,706...109,424,457
JBrowse link
Braddock-Carey Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kif15 kinesin family member 15 ISO ClinVar Annotator: match by term: Braddock-carey syndrome 2 OMIM
ClinVar
PMID:25741868 PMID:28150392 NCBI chr 8:122,601,888...122,672,750
Ensembl chr 8:122,601,897...122,672,750
JBrowse link
congenital amegakaryocytic thrombocytopenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mpl MPL proto-oncogene, thrombopoietin receptor ISO
ISS
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital amegakaryocytic thrombocytopenia
OMIM:604498
CTD
ClinVar
MouseDO
PMID:971406 PMID:8073287 PMID:9536098 PMID:10077649 PMID:10971406 More... NCBI chr 5:131,973,895...131,987,472
Ensembl chr 5:131,973,895...131,986,797
JBrowse link
Congenital Amegakaryocytic Thrombocytopenia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mpl MPL proto-oncogene, thrombopoietin receptor ISO ClinVar Annotator: match by term: Congenital amegakaryocytic thrombocytopenia 1 OMIM
ClinVar
PMID:971406 PMID:10077649 PMID:10971406 PMID:11071383 PMID:11133753 More... NCBI chr 5:131,973,895...131,987,472
Ensembl chr 5:131,973,895...131,986,797
JBrowse link
Congenital Amegakaryocytic Thrombocytopenia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Thpo thrombopoietin ISO ClinVar Annotator: match by term: Amegakaryocytic thrombocytopenia, congenital, 2 OMIM
ClinVar
PMID:24085763 PMID:25741868 PMID:28492532 PMID:28559357 PMID:29191945 More... Ensembl chr11:80,182,820...80,188,167 JBrowse link
congenital disorder of glycosylation Ix term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Stt3b STT3 oligosaccharyltransferase complex catalytic subunit B ISO ClinVar Annotator: match by term: 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 More... NCBI chr 8:114,928,678...114,994,027
Ensembl chr 8:114,917,824...114,994,028
JBrowse link
Diarrhea prodrome + Hemolytic-Uremic Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gp1ba glycoprotein Ib platelet subunit alpha ISO associated with Escherichia Coli Infections;DNA:SNP:exon: (rs121908064) (human) RGD PMID:29216383 RGD:42722620 NCBI chr10:55,352,938...55,355,804
Ensembl chr10:55,352,899...55,356,774
JBrowse link
Drug-Induced Immune Thrombocytopenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc2 ATP binding cassette subfamily C member 2 susceptibility ISO associated with Carcinoma, Non-Small-Cell Lung;DNA:SNP, haplotype:promoter,cds: 3972C>T, -24C>T(human) RGD PMID:20943283 RGD:11080978 NCBI chr 1:242,664,657...242,723,239
Ensembl chr 1:242,664,657...242,723,238
JBrowse link
G Dpyd dihydropyrimidine dehydrogenase treatment ISO associated with Neoplasms;DNA:SNP:intron:IVS14+1G>A (human)
associated with Stomach Neoplasms
RGD PMID:19473056 PMID:23064955 RGD:11098817, RGD:11251740 NCBI chr 2:206,609,043...207,474,982
Ensembl chr 2:206,609,122...207,474,982
JBrowse link
G Gstm1 glutathione S-transferase mu 1 susceptibility
treatment
ISO associated with Ovarian Neoplasms;DNA:deletion: : (human)
associated with diffuse large B-cell lymphoma; DNA:deletion:cds:
RGD PMID:19786980 PMID:20303013 RGD:5688741, RGD:10450835 NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
JBrowse link
G Gstt1 glutathione S-transferase theta 1 treatment ISO associated with diffuse large B-cell lymphoma; DNA:deletion:cds: RGD PMID:20303013 RGD:10450835 NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585
JBrowse link
G Il1a interleukin 1 alpha treatment ISO associated with Carcinoma, Non-Small-Cell Lung
associated with Ovarian Neoplasms
RGD PMID:7666093 PMID:8151314 RGD:11051963, RGD:11051964 NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
JBrowse link
G Il1b interleukin 1 beta treatment ISO associated with Glioblastoma; RGD PMID:1331350 RGD:10450883 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
JBrowse link
G Pecam1 platelet and endothelial cell adhesion molecule 1 severity ISO RGD PMID:10942385 PMID:17234740 RGD:11541093, RGD:11541120 NCBI chr10:91,590,521...91,652,279
Ensembl chr10:91,590,521...91,652,116
JBrowse link
G Pf4 platelet factor 4 treatment IEP RGD PMID:31863655 RGD:329901923 NCBI chr14:17,298,304...17,299,220
Ensembl chr14:17,298,308...17,299,365
JBrowse link
Evans Syndrome, Immunodeficiency, and Premature Immunosenescence associated with Tripeptidyl-Peptidase II Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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 chr15:101,045,033...101,679,888
Ensembl chr15:101,045,036...101,679,900
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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 9:46,243,416...46,252,273
Ensembl chr 9:46,242,748...46,252,249
JBrowse link
G Tpp2 tripeptidyl peptidase 2 ISO ClinVar Annotator: match by term: Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:25414442 PMID:25640679 More... NCBI chr 9:46,046,712...46,128,157
Ensembl chr 9:46,046,632...46,128,157
JBrowse link
Giant Platelet Syndrome with Thrombocytopenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myh9 myosin, heavy chain 9 ISO ClinVar Annotator: match by term: Giant platelet syndrome with thrombocytopenia ClinVar PMID:1449176 PMID:5011389 PMID:8280620 PMID:9390828 PMID:10603121 More... NCBI chr 7:109,343,718...109,424,457
Ensembl chr 7:109,343,706...109,424,457
JBrowse link
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, 8, WITH RHIZOMELIC SHORT STATURE term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C1galt1c1 C1GALT1-specific chaperone 1 ISO ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, 8, with rhizomelic short stature ClinVar
OMIM
PMID:25741868 PMID:36599939 PMID:37216524 NCBI chr  X:117,378,123...117,382,620
Ensembl chr  X:117,375,525...117,382,787
JBrowse link
hemolytic-uremic syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alb albumin ISO CTD Direct Evidence: marker/mechanism CTD PMID:6734075 NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 IEP protein:increased expression:plasma (rat) RGD PMID:10201001 RGD:11528527 NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
JBrowse link
G Ccl3 C-C motif chemokine ligand 3 ISO RGD PMID:17220320 RGD:7241820 NCBI chr10:68,451,388...68,452,938
Ensembl chr10:68,451,388...68,452,938
JBrowse link
G Cd36 CD36 molecule ISO RGD PMID:16197457 RGD:6893534 NCBI chr 4:17,317,343...17,410,084
Ensembl chr 4:17,354,466...17,513,903
JBrowse link
G Cd46 CD46 molecule susceptibility ISO DNA:frameshift mutation:cds:p.N233X3 (human)
DNA:mutations:multiple (human)
DNA:deletion, missense mutation:cds:p.D237_S238del, p.S206P (human)
RGD PMID:14615110 PMID:16189652 PMID:14566051 RGD:11352767, RGD:11531138, RGD:11352770 NCBI chr13:106,575,586...106,606,325
Ensembl chr13:106,574,858...106,660,445
JBrowse link
G Cfh complement factor H ISO
ISS
DNA:mutations, polymorphisms:promoter, exon:multiple MouseDO
RGD
PMID:14583443 RGD:11041164 NCBI chr13:51,512,376...51,613,829
Ensembl chr13:51,511,828...51,613,838
JBrowse link
G Dgke diacylglycerol kinase epsilon ISO ClinVar Annotator: match by term: Hemolytic-uremic syndrome ClinVar PMID:25854283 NCBI chr10:73,853,030...73,877,334
Ensembl chr10:73,855,583...73,877,100
JBrowse link
G Epo erythropoietin ISO CTD Direct Evidence: therapeutic CTD PMID:12053072 NCBI chr12:19,204,258...19,207,948
Ensembl chr12:19,204,508...19,207,946
JBrowse link
G F2 coagulation factor II, thrombin ISO associated with diarrhea;protein:increased expression:plasma (human) RGD PMID:9423793 RGD:40818428 NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486
JBrowse link
G Fos Fos proto-oncogene, AP-1 transcription factor subunit ISO RGD PMID:15632024 RGD:7242276 NCBI chr 6:105,121,170...105,124,036
Ensembl chr 6:105,121,170...105,124,036
JBrowse link
G Hp haptoglobin ISO RGD PMID:6218601 RGD:1626361 NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523
JBrowse link
G Il1a interleukin 1 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:15384034 NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:15384034 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
JBrowse link
G Il1rl1 interleukin 1 receptor-like 1 severity ISO associated with Escherichia Coli Infections; RGD PMID:30467800 RGD:39458200 NCBI chr 9:42,661,694...42,727,266
Ensembl chr 9:42,697,192...42,727,256
JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO protein:increased concentration:serum (human) RGD PMID:9802632 PMID:12373296 RGD:6909134, RGD:6909171 NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15384034 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
JBrowse link
G Mbl2 mannose binding lectin 2 treatment ISO RGD PMID:27378476 RGD:11530050 NCBI chr 1:228,016,439...228,024,736 JBrowse link
G Nqo1 NAD(P)H quinone dehydrogenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12588957 NCBI chr19:35,295,633...35,310,528
Ensembl chr19:35,295,573...35,310,557
JBrowse link
G Pla2g7 phospholipase A2 group VII severity ISO associated with Escherichia coli Infections; DNA:transversion mutation: :994 G>T (human) RGD PMID:10873870 RGD:7257516 NCBI chr 9:17,362,214...17,404,476
Ensembl chr 9:17,362,225...17,404,476
JBrowse link
G Plat plasminogen activator, tissue type ISO associated with Escherichia coli Infections;protein:increased expression:plasma (human) RGD PMID:11777999 RGD:11541069 NCBI chr16:69,240,582...69,265,177
Ensembl chr16:69,240,585...69,268,223
JBrowse link
G Thbd thrombomodulin ISO RGD PMID:22942429 RGD:11038690 NCBI chr 3:135,863,366...135,867,018
Ensembl chr 3:135,862,835...135,867,193
JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:15384034 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
JBrowse link
G Tsen2 tRNA splicing endonuclease subunit 2 ISO ClinVar Annotator: match by term: Hemolytic-uremic syndrome ClinVar PMID:34964109 NCBI chr 4:148,602,805...148,638,219
Ensembl chr 4:148,602,863...148,638,215
JBrowse link
Heparin-induced Thrombocytopenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fcgr2a Fc gamma receptor 2A ISO RGD PMID:8772238 RGD:11040889 NCBI chr13:83,280,782...83,297,535
Ensembl chr13:83,280,784...83,295,967
JBrowse link
G Fcgr3a Fc gamma receptor 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
JBrowse link
G Il10 interleukin 10 no_association ISO DNA:repeats, haplotype:promoter
DNA:SNPs:promoter:rs1800896 (-1082G/A), rs1800871 (-819C/T), rs1800872 (-592C/A) (human)
RGD PMID:22239992 PMID:22239992 RGD:11049164, RGD:11049164 NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
JBrowse link
Isolated Macrothrombocytopenia 2, Autosomal Dominant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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
JBrowse link
IVIC syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sall4 spalt-like transcription factor 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Oculootoradial syndrome | ClinVar Annotator: match by term: SALL4-Related Spectrum Disorders
OMIM
CTD
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
JBrowse link
Jacobsen Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acad8 acyl-CoA dehydrogenase family, member 8 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:25,382,271...25,406,404
Ensembl chr 8:25,382,273...25,406,414
JBrowse link
G Acrv1 acrosomal vesicle protein 1 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:36,404,394...36,409,971
Ensembl chr 8:36,404,394...36,424,959
JBrowse link
G Adamts15 ADAM metallopeptidase with thrombospondin type 1 motif, 15 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:29,307,864...29,331,249
Ensembl chr 8:29,307,865...29,331,249
JBrowse link
G Adamts8 ADAM metallopeptidase with thrombospondin type 1 motif, 8 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:29,349,078...29,368,413
Ensembl chr 8:29,349,114...29,368,404
JBrowse link
G Aplp2 amyloid beta precursor like protein 2 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:29,599,230...29,662,311
Ensembl chr 8:29,599,230...29,661,855
JBrowse link
G Arhgap32 Rho GTPase activating protein 32 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:30,421,269...30,681,653
Ensembl chr 8:30,421,515...30,678,454
JBrowse link
G B3gat1 beta-1,3-glucuronyltransferase 1 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:25,087,123...25,114,692
Ensembl chr 8:25,087,547...25,113,395
JBrowse link
G Barx2 BARX homeobox 2 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:30,251,132...30,319,105
Ensembl chr 8:30,251,132...30,319,013
JBrowse link
G Ccdc15 coiled-coil domain containing 15 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:36,991,147...37,068,849
Ensembl chr 8:36,998,867...37,068,919
JBrowse link
G Cdon cell adhesion associated, oncogene regulated ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:33,775,123...33,861,635
Ensembl chr 8:33,806,183...33,859,033
JBrowse link
G Chek1 checkpoint kinase 1 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:36,420,565...36,443,477
Ensembl chr 8:36,420,569...36,441,009
JBrowse link
G Dcps decapping enzyme, scavenger ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:33,468,669...33,524,407
Ensembl chr 8:33,415,671...33,524,389
JBrowse link
G Ddx25 DEAD-box helicase 25 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:33,894,224...33,910,377
Ensembl chr 8:33,894,232...33,921,764
JBrowse link
G Ei24 EI24, autophagy associated transmembrane protein ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:36,494,289...36,510,653
Ensembl chr 8:36,494,289...36,510,571
JBrowse link
G Esam endothelial cell adhesion molecule ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:37,238,228...37,249,217
Ensembl chr 8:37,238,287...37,249,215
JBrowse link
G Ets1 ETS proto-oncogene 1, transcription factor ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:31,045,909...31,168,010
Ensembl chr 8:31,045,945...31,168,010
JBrowse link
G Fam118b family with sequence similarity 118, member B ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:33,566,681...33,617,310
Ensembl chr 8:33,566,669...33,617,270
JBrowse link
G Fez1 fasciculation and elongation protein zeta 1 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:36,544,462...36,589,684
Ensembl chr 8:36,544,535...36,589,683
JBrowse link
G Fli1 Fli-1 proto-oncogene, ETS transcription factor ISO ClinVar Annotator: match by term: 11q partial monosomy syndrome | ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:25741868 PMID:28255014 PMID:28492532 PMID:31064749 PMID:32581362 NCBI chr 8:30,831,422...30,950,468
Ensembl chr 8:30,832,753...30,950,433
JBrowse link
G Foxred1 FAD-dependent oxidoreductase domain containing 1 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:33,551,010...33,560,227
Ensembl chr 8:33,551,013...33,560,192
JBrowse link
G Glb1l2 galactosidase, beta 1-like 2 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:25,115,462...25,166,843
Ensembl chr 8:25,115,462...25,166,783
JBrowse link
G Glb1l3 galactosidase, beta 1-like 3 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:25,179,165...25,220,904
Ensembl chr 8:25,179,165...25,220,904
JBrowse link
G Hepacam hepatic and glial cell adhesion molecule ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:37,087,864...37,106,759
Ensembl chr 8:37,087,857...37,105,920
JBrowse link
G Hyls1 HYLS1, centriolar and ciliogenesis associated ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:33,912,692...33,921,760
Ensembl chr 8:33,912,692...33,921,760
JBrowse link
G Igsf9b immunoglobulin superfamily, member 9B ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:25,712,644...25,769,481
Ensembl chr 8:25,712,644...25,758,554
JBrowse link
G Jam3 junctional adhesion molecule 3 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:25,508,461...25,569,306
Ensembl chr 8:25,507,057...25,569,355
JBrowse link
G Kcnj1 potassium inwardly-rectifying channel, subfamily J, member 1 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:30,779,883...30,808,607
Ensembl chr 8:30,753,617...30,813,796
JBrowse link
G Kcnj5 potassium inwardly-rectifying channel, subfamily J, member 5 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:30,724,923...30,753,083
Ensembl chr 8:30,724,925...30,753,518
JBrowse link
G Kirrel3 kirre like nephrin family adhesion molecule 3 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:32,865,779...33,407,555
Ensembl chr 8:32,862,776...33,405,676
JBrowse link
G Msantd2 Myb/SANT DNA binding domain containing 2 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:37,200,890...37,234,691
Ensembl chr 8:37,200,260...37,234,476
JBrowse link
G Ncapd3 non-SMC condensin II complex, subunit D3 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:25,437,067...25,506,375
Ensembl chr 8:25,437,123...25,506,373
JBrowse link
G Nfrkb nuclear factor related to kappa B binding protein ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:29,831,802...29,863,360
Ensembl chr 8:29,831,812...29,863,359
JBrowse link
G Nrgn neurogranin ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:37,255,462...37,263,659
Ensembl chr 8:37,256,930...37,257,516
JBrowse link
G Ntm neurotrimin ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:27,376,582...28,366,604
Ensembl chr 8:27,377,773...28,366,595
JBrowse link
G Opcml opioid binding protein/cell adhesion molecule-like ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:26,788,988...27,304,551
Ensembl chr 8:26,192,841...27,300,620
JBrowse link
G 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
JBrowse link
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
JBrowse link
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
JBrowse link
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 JBrowse link
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
JBrowse link
G Panx3 pannexin 3 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:37,366,758...37,377,640
Ensembl chr 8:37,366,862...37,377,640
JBrowse link
G Pate1 prostate and testis expressed 1 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:34,048,410...34,050,867
Ensembl chr 8:34,048,617...34,050,848
JBrowse link
G Pate2 prostate and testis expressed 2 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:34,019,123...34,026,850
Ensembl chr 8:34,024,114...34,050,517
JBrowse link
G Pate3 prostate and testis expressed 3 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:34,014,164...34,016,175
Ensembl chr 8:34,014,164...34,016,175
JBrowse link
G Pate4 prostate and testis expressed 4 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:33,988,812...33,991,552
Ensembl chr 8:33,988,812...33,991,552
JBrowse link
G Pknox2 PBX/knotted 1 homeobox 2 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:36,600,633...36,863,131
Ensembl chr 8:36,600,636...36,790,940
JBrowse link
G Prdm10 PR/SET domain 10 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:29,724,011...29,827,757
Ensembl chr 8:29,724,245...29,826,080
JBrowse link
G Pus3 pseudouridine synthase 3 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:33,910,461...33,918,716
Ensembl chr 8:33,911,357...33,918,714
JBrowse link
G Robo3 roundabout guidance receptor 3 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:37,133,542...37,151,674
Ensembl chr 8:37,133,916...37,151,315
JBrowse link
G Robo4 roundabout guidance receptor 4 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:37,119,953...37,133,887
Ensembl chr 8:37,119,988...37,132,519
JBrowse link
G Rpusd4 RNA pseudouridine synthase D4 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:33,617,384...33,626,873
Ensembl chr 8:33,617,379...33,626,873
JBrowse link
G Siae sialic acid acetylesterase ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:37,318,724...37,354,004
Ensembl chr 8:37,318,747...37,353,996
JBrowse link
G Slc37a2 solute carrier family 37 member 2 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:36,945,787...36,971,748
Ensembl chr 8:36,946,930...36,971,482
JBrowse link
G Snx19 sorting nexin 19 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:28,829,881...28,867,600
Ensembl chr 8:28,829,886...28,867,061
JBrowse link
G Spa17 sperm autoantigenic protein 17 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:37,307,432...37,318,519
Ensembl chr 8:37,307,557...37,318,639
JBrowse link
G Spata19 spermatogenesis associated 19 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:25,814,922...25,820,663
Ensembl chr 8:25,814,905...25,820,670
JBrowse link
G Srpra SRP receptor subunit alpha ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:33,560,365...33,566,458
Ensembl chr 8:33,560,348...33,566,470
JBrowse link
G St14 ST14 transmembrane serine protease matriptase ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:29,540,805...29,581,704
Ensembl chr 8:29,540,811...29,581,517
JBrowse link
G St3gal4 ST3 beta-galactoside alpha-2,3-sialyltransferase 4 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:33,415,666...33,465,319
Ensembl chr 8:33,415,671...33,524,389
JBrowse link
G Stt3a STT3 oligosaccharyltransferase complex catalytic subunit A ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:36,443,623...36,483,111
Ensembl chr 8:36,446,788...36,483,293
JBrowse link
G Tbrg1 transforming growth factor beta regulator 1 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:37,355,274...37,362,933
Ensembl chr 8:37,354,658...37,362,930
JBrowse link
G Thyn1 thymocyte nuclear protein 1 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:25,406,563...25,415,445
Ensembl chr 8:25,406,500...25,415,445
JBrowse link
G Tirap TIR domain containing adaptor protein ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:33,531,724...33,548,508
Ensembl chr 8:33,531,725...33,547,432
JBrowse link
G Tmem218 transmembrane protein 218 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:36,924,553...36,940,564
Ensembl chr 8:36,924,585...36,939,927
JBrowse link
G Tmem45b transmembrane protein 45b ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:29,865,276...29,910,453
Ensembl chr 8:29,865,278...29,910,453
JBrowse link
G Vps26b VPS26 retromer complex component B ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:25,415,877...25,436,985
Ensembl chr 8:25,415,261...25,436,985
JBrowse link
G Vsig2 V-set and immunoglobulin domain containing 2 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:37,250,107...37,255,150
Ensembl chr 8:37,250,107...37,255,150
JBrowse link
G Zbtb44 zinc finger and BTB domain containing 44 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:29,466,055...29,524,027
Ensembl chr 8:29,466,352...29,518,163
JBrowse link
Kaposiform Hemangioendothelioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgf2 fibroblast growth factor 2 ISO RGD PMID:14517397 RGD:8655667 NCBI chr 2:120,236,328...120,290,673
Ensembl chr 2:120,236,328...120,291,221
JBrowse link
G Gna14 G protein subunit alpha 14 ISO ClinVar Annotator: match by term: Kaposiform hemangioendothelioma ClinVar PMID:25741868 PMID:27476652 NCBI chr 1:213,714,993...213,900,083
Ensembl chr 1:213,716,020...213,897,423
JBrowse link
MYH-9 related disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myh9 myosin, heavy chain 9 ISO
ISS
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
OMIM:155100
CTD Direct Evidence: marker/mechanism
DNA:mutation:cds:p.R702C(mouse)
DNA:mutation:exon:p.E1841K(human)
DNA:missense mutations:exons:multiple
ClinVar
MouseDO
CTD
OMIM
RGD
PMID:1449176 PMID:5011389 PMID:8280620 PMID:9390828 PMID:9536098 More... RGD:6902926, RGD:11533924, RGD:11532766, RGD:6903235 NCBI chr 7:109,343,718...109,424,457
Ensembl chr 7:109,343,706...109,424,457
JBrowse link
G Tubb1 tubulin, beta 1 class VI ISO ClinVar Annotator: match by term: Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss ClinVar PMID:25741868 NCBI chr 3:163,247,990...163,257,460
Ensembl chr 3:163,247,967...163,256,063
JBrowse link
Neonatal Alloimmune Thrombocytopenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Itga2 integrin subunit alpha 2 ISO ClinVar Annotator: match by term: Fetal and neonatal alloimmune thrombocytopenia ClinVar PMID:23368983 PMID:25741868 NCBI chr 2:46,520,345...46,621,487
Ensembl chr 2:46,523,948...46,621,481
JBrowse link
G Itga2b integrin subunit alpha 2b ISO ClinVar Annotator: match by term: BAK PLATELET-SPECIFIC ANTIGEN ClinVar PMID:2014236 PMID:25741868 PMID:28492532 NCBI chr10:87,408,532...87,426,055
Ensembl chr10:87,408,536...87,426,168
JBrowse link
G Itgb3 integrin subunit beta 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: 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 More... NCBI chr10:89,509,917...89,564,679
Ensembl chr10:89,509,989...89,564,679
JBrowse link
platelet-type bleeding disorder 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actn1 actinin, alpha 1 ISO ClinVar Annotator: match by term: ACTN1-related condition | ClinVar Annotator: match by term: Platelet-type bleeding disorder 15 OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:23434115 PMID:24069336 PMID:25361813 More... NCBI chr 6:98,998,553...99,093,334
Ensembl chr 6:98,998,556...99,093,251
JBrowse link
G Fli1 Fli-1 proto-oncogene, ETS transcription factor ISO ClinVar Annotator: match by term: Bleeding disorder platelet type macrothrombocytopenia ClinVar PMID:23809206 PMID:26316623 NCBI chr 8:30,831,422...30,950,468
Ensembl chr 8:30,832,753...30,950,433
JBrowse link
platelet-type bleeding disorder 17 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gfi1b growth factor independent 1B transcriptional repressor ISO ClinVar Annotator: match by term: Platelet-type bleeding disorder 17
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:1065298 PMID:5681484 PMID:20861919 PMID:23927492 PMID:24325358 More... NCBI chr 3:11,940,232...11,952,989
Ensembl chr 3:11,940,233...11,952,942
JBrowse link
platelet-type bleeding disorder 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Itga2 integrin subunit alpha 2 ISO ClinVar Annotator: match by term: COLLAGEN PLATELET RECEPTOR DEFICIENCY | ClinVar Annotator: match by term: Platelet-type bleeding disorder 9 ClinVar PMID:19500323 PMID:22862885 PMID:23368983 PMID:25741868 PMID:28492532 NCBI chr 2:46,520,345...46,621,487
Ensembl chr 2:46,523,948...46,621,481
JBrowse link
G Mocs2 molybdenum cofactor synthesis 2 ISO ClinVar Annotator: match by term: COLLAGEN PLATELET RECEPTOR DEFICIENCY | ClinVar Annotator: match by term: Platelet-type bleeding disorder 9 ClinVar NCBI chr 2:46,504,588...46,516,327
Ensembl chr 2:46,504,588...46,516,324
JBrowse link
Posttransfusion Purpura term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Itgb3 integrin subunit beta 3 susceptibility ISO ClinVar Annotator: match by term: PEN(a)/PEN(b) ALLOANTIGEN POLYMORPHISM ClinVar
OMIM
PMID:1430225 PMID:9787162 PMID:14516468 PMID:21658138 PMID:25741868 More... NCBI chr10:89,509,917...89,564,679
Ensembl chr10:89,509,989...89,564,679
JBrowse link
Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hoxa11 homeobox A11 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: THROMBOCYTOPENIA, CONGENITAL, WITH RADIOULNAR SYNOSTOSIS
CTD
ClinVar
PMID:24239177 PMID:25741868 NCBI chr 4:81,342,527...81,346,189
Ensembl chr 4:81,342,528...81,346,232
JBrowse link
Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hoxa11 homeobox A11 ISO ClinVar Annotator: match by term: Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 OMIM
ClinVar
PMID:11101832 PMID:25741868 NCBI chr 4:81,342,527...81,346,189
Ensembl chr 4:81,342,528...81,346,232
JBrowse link
Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cav1 caveolin 1 ISO ClinVar Annotator: match by term: Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 ClinVar PMID:25741868 PMID:38177409 NCBI chr 4:45,640,624...45,673,708
Ensembl chr 4:45,634,918...45,673,705
JBrowse link
G Mecom MDS1 and EVI1 complex locus ISO ClinVar Annotator: match by term: MECOM-related condition | ClinVar Annotator: match by term: Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:20091385 PMID:25741868 PMID:26581901 More... NCBI chr 2:112,909,353...113,464,583
Ensembl chr 2:112,909,321...113,464,590
JBrowse link
Takenouchi-Kosaki Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdc42 cell division cycle 42 ISO ClinVar Annotator: match by term: Takenouchi-Kosaki syndrome OMIM
ClinVar
PMID:25741868 PMID:26386261 PMID:26708094 PMID:26795593 PMID:27513193 More... NCBI chr 5:149,555,069...149,593,239
Ensembl chr 5:149,553,724...149,593,111
JBrowse link
Thrombocytopenia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akap4 A-kinase anchoring protein 4 ISO ClinVar Annotator: match by term: Thrombocytopenia, X-linked ClinVar PMID:28492532 NCBI chr  X:15,435,391...15,445,684
Ensembl chr  X:15,435,410...15,445,684
JBrowse link
G Bmp15 bone morphogenetic protein 15 ISO ClinVar Annotator: match by term: Thrombocytopenia, X-linked ClinVar PMID:28492532 NCBI chr  X:16,169,123...16,174,187
Ensembl chr  X:16,169,123...16,174,187
JBrowse link
G Cacna1f calcium voltage-gated channel subunit alpha1 F ISO ClinVar Annotator: match by term: Thrombocytopenia, X-linked ClinVar PMID:28492532 NCBI chr  X:14,868,096...14,896,413
Ensembl chr  X:14,868,024...14,896,413
JBrowse link
G Ccdc120 coiled-coil domain containing 120 ISO ClinVar Annotator: match by term: Thrombocytopenia, X-linked ClinVar PMID:28492532 NCBI chr  X:14,753,594...14,772,745
Ensembl chr  X:14,753,696...14,772,743
JBrowse link
G Ccdc22 coiled-coil domain containing 22 ISO ClinVar Annotator: match by term: Thrombocytopenia, X-linked ClinVar PMID:28492532 NCBI chr  X:14,898,296...14,910,244
Ensembl chr  X:14,898,296...14,910,244
JBrowse link
G Ccnb3 cyclin B3 ISO ClinVar Annotator: match by term: Thrombocytopenia, X-linked ClinVar PMID:28492532 NCBI chr  X:15,478,050...15,543,292
Ensembl chr  X:15,478,065...15,542,885
JBrowse link
G Clcn5 chloride voltage-gated channel 5 ISO ClinVar Annotator: match by term: Thrombocytopenia, X-linked ClinVar PMID:28492532 NCBI chr  X:15,185,380...15,339,977
Ensembl chr  X:15,185,451...15,334,264
JBrowse link
G Dgkk diacylglycerol kinase kappa ISO ClinVar Annotator: match by term: Thrombocytopenia, X-linked ClinVar PMID:28492532 NCBI chr  X:15,581,991...15,713,814
Ensembl chr  X:15,583,572...15,712,987
JBrowse link
G Ebp EBP, cholestenol delta-isomerase ISO ClinVar Annotator: match by term: Thrombocytopenia, X-linked ClinVar PMID:28492532 NCBI chr  X:14,299,427...14,305,826
Ensembl chr  X:14,299,448...14,305,826
JBrowse link
G Eras ES cell expressed Ras ISO ClinVar Annotator: match by term: Thrombocytopenia, X-linked ClinVar PMID:28492532 NCBI chr  X:14,573,987...14,578,455
Ensembl chr  X:14,573,987...14,578,374
JBrowse link
G Foxp3 forkhead box P3 ISO ClinVar Annotator: match by term: Thrombocytopenia, X-linked ClinVar PMID:28492532 NCBI chr  X:14,908,494...14,924,994
Ensembl chr  X:14,908,494...14,923,838
JBrowse link
G Gata1 GATA binding protein 1 ISO associated with Beta-Thalassemia;DNA:missense mutation: :p.R216Q (human)
ClinVar Annotator: match by term: Thrombocytopenia, X-linked
ClinVar
RGD
PMID:28492532 PMID:12200364 RGD:10450747 NCBI chr  X:14,529,706...14,537,530
Ensembl chr  X:14,529,702...14,537,530
JBrowse link
G Glod5 glyoxalase domain containing 5 ISO ClinVar Annotator: match by term: Thrombocytopenia, X-linked ClinVar PMID:28492532 NCBI chr  X:14,473,994...14,488,797
Ensembl chr  X:14,473,994...14,488,683
JBrowse link
G Gpkow G patch domain and KOW motifs ISO ClinVar Annotator: match by term: Thrombocytopenia, X-linked ClinVar PMID:28492532 NCBI chr  X:14,791,601...14,806,384
Ensembl chr  X:14,791,610...14,806,384
JBrowse link
G Gripap1 GRIP1 associated protein 1 ISO ClinVar Annotator: match by term: Thrombocytopenia, X-linked ClinVar PMID:28492532 NCBI chr  X:14,678,896...14,708,747
Ensembl chr  X:14,678,898...14,708,679
JBrowse link
G Hdac6 histone deacetylase 6 ISO ClinVar Annotator: match by term: Thrombocytopenia, X-linked ClinVar PMID:28492532 NCBI chr  X:14,550,645...14,572,445
Ensembl chr  X:14,551,044...14,572,441
JBrowse link
G Kcnd1 potassium voltage-gated channel subfamily D member 1 ISO ClinVar Annotator: match by term: Thrombocytopenia, X-linked ClinVar PMID:28492532 NCBI chr  X:14,661,688...14,678,745
Ensembl chr  X:14,662,357...14,677,233
JBrowse link
G Magix MAGI family member, X-linked ISO ClinVar Annotator: match by term: Thrombocytopenia, X-linked ClinVar PMID:28492532 NCBI chr  X:14,824,114...14,832,466
Ensembl chr  X:14,824,188...14,831,045
JBrowse link
G Mir500 microRNA 500 ISO ClinVar Annotator: match by term: Thrombocytopenia, X-linked ClinVar PMID:28492532 NCBI chr  X:15,258,778...15,258,857
Ensembl chr  X:15,258,768...15,258,859
JBrowse link
G Mir532 microRNA 532 ISO ClinVar Annotator: match by term: Thrombocytopenia, X-linked ClinVar PMID:28492532 NCBI chr  X:15,247,315...15,247,393
Ensembl chr  X:15,247,315...15,247,393
JBrowse link
G Nudt11 nudix hydrolase 11 ISO ClinVar Annotator: match by term: Thrombocytopenia, X-linked ClinVar PMID:28492532 NCBI chr  X:16,326,775...16,333,396
Ensembl chr  X:16,326,598...16,333,145
JBrowse link
G Otud5 OTU deubiquitinase 5 ISO ClinVar Annotator: match by term: Thrombocytopenia, X-linked ClinVar PMID:28492532 NCBI chr  X:14,626,173...14,659,331
Ensembl chr  X:14,626,164...14,659,573
JBrowse link
G Pcsk1n proprotein convertase subtilisin/kexin type 1 inhibitor ISO ClinVar Annotator: match by term: Thrombocytopenia, X-linked ClinVar PMID:28492532 NCBI chr  X:14,580,036...14,583,478
Ensembl chr  X:14,580,038...14,583,566
JBrowse link
G Pim2 Pim-2 proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Thrombocytopenia, X-linked ClinVar PMID:28492532 NCBI chr  X:14,617,582...14,622,851
Ensembl chr  X:14,617,582...14,622,851
JBrowse link
G Plp2 proteolipid protein 2 ISO ClinVar Annotator: match by term: Thrombocytopenia, X-linked ClinVar PMID:28492532 NCBI chr  X:14,834,249...14,837,648
Ensembl chr  X:14,834,231...14,838,514
JBrowse link
G Porcn porcupine O-acyltransferase ISO ClinVar Annotator: match by term: Thrombocytopenia, X-linked ClinVar PMID:28492532 NCBI chr  X:14,285,864...14,298,481
Ensembl chr  X:14,285,871...14,298,481
JBrowse link
G Ppp1r3f protein phosphatase 1, regulatory subunit 3F ISO ClinVar Annotator: match by term: Thrombocytopenia, X-linked ClinVar PMID:28492532 NCBI chr  X:14,915,740...14,945,249
Ensembl chr  X:14,929,323...14,945,193
JBrowse link
G Pqbp1 polyglutamine binding protein 1 ISO ClinVar Annotator: match by term: Thrombocytopenia, X-linked ClinVar PMID:28492532 NCBI chr  X:14,603,516...14,608,091
Ensembl chr  X:14,603,539...14,608,087
JBrowse link
G Praf2 PRA1 domain family, member 2 ISO ClinVar Annotator: match by term: Thrombocytopenia, X-linked ClinVar PMID:28492532 NCBI chr  X:14,773,398...14,776,035
Ensembl chr  X:14,773,420...14,775,909
JBrowse link
G Prickle3 prickle planar cell polarity protein 3 ISO ClinVar Annotator: match by term: Thrombocytopenia, X-linked ClinVar PMID:28492532 NCBI chr  X:14,837,647...14,849,305
Ensembl chr  X:14,837,650...14,848,218
JBrowse link
G Rbm3 RNA binding motif protein 3 ISO ClinVar Annotator: match by term: Thrombocytopenia, X-linked ClinVar PMID:28492532 NCBI chr  X:14,348,909...14,352,387
Ensembl chr  X:14,348,910...14,353,580
JBrowse link
G Shroom4 shroom family member 4 ISO ClinVar Annotator: match by term: Thrombocytopenia, X-linked ClinVar PMID:28492532 NCBI chr  X:15,869,065...16,076,850
Ensembl chr  X:15,869,065...16,076,869
JBrowse link
G Slc35a2 solute carrier family 35 member A2 ISO ClinVar Annotator: match by term: Thrombocytopenia, X-linked ClinVar PMID:28492532 NCBI chr  X:14,608,145...14,616,937
Ensembl chr  X:14,608,055...14,616,678
JBrowse link
G Suv39h1 SUV39H1 histone lysine methyltransferase ISO ClinVar Annotator: match by term: Thrombocytopenia, X-linked ClinVar PMID:28492532 NCBI chr  X:14,421,028...14,433,993
Ensembl chr  X:14,421,109...14,433,982
JBrowse link
G Suv39h1-ps1 SUV39H1 histone lysine methyltransferase, pseudogene 1 ISO ClinVar Annotator: match by term: Thrombocytopenia, X-linked ClinVar PMID:28492532 NCBI chr  X:141,792,589...141,795,257 JBrowse link
G Syp synaptophysin ISO ClinVar Annotator: match by term: Thrombocytopenia, X-linked ClinVar PMID:28492532 NCBI chr  X:14,849,444...14,864,553
Ensembl chr  X:14,849,444...14,864,745
JBrowse link
G Tbc1d25 TBC1 domain family, member 25 ISO ClinVar Annotator: match by term: Thrombocytopenia, X-linked ClinVar PMID:28492532 NCBI chr  X:14,314,095...14,339,171
Ensembl chr  X:14,314,414...14,338,275
JBrowse link
G Tfe3 transcription factor binding to IGHM enhancer 3 ISO ClinVar Annotator: match by term: Thrombocytopenia, X-linked ClinVar PMID:28492532 NCBI chr  X:14,729,547...14,742,830
Ensembl chr  X:14,729,550...14,742,571
JBrowse link
G Timm17b translocase of inner mitochondrial membrane 17b ISO ClinVar Annotator: match by term: Thrombocytopenia, X-linked ClinVar PMID:28492532 NCBI chr  X:14,596,330...14,603,491
Ensembl chr  X:14,594,577...14,603,416
JBrowse link
G Usp27x ubiquitin specific peptidase 27, X-linked ISO ClinVar Annotator: match by term: Thrombocytopenia, X-linked ClinVar PMID:28492532 NCBI chr  X:15,123,620...15,126,855
Ensembl chr  X:15,124,596...15,125,912
JBrowse link
G Was WASP actin nucleation promoting factor ISO ClinVar Annotator: match by term: THROMBOCYTOPENIA, X-LINKED, 1 | ClinVar Annotator: match by term: Thrombocytopenia 1 | ClinVar Annotator: match by term: Thrombocytopenia, X-linked
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:3284030 PMID:7579329 PMID:7753869 PMID:7795648 PMID:8528198 More... NCBI chr  X:14,405,105...14,413,850
Ensembl chr  X:14,405,124...14,413,849
JBrowse link
G Wdr13 WD repeat domain 13 ISO ClinVar Annotator: match by term: Thrombocytopenia, X-linked ClinVar PMID:28492532 NCBI chr  X:14,362,484...14,373,727
Ensembl chr  X:14,362,860...14,373,727
JBrowse link
G Wdr45 WD repeat domain 45 ISO ClinVar Annotator: match by term: Thrombocytopenia, X-linked ClinVar PMID:28492532 NCBI chr  X:14,776,280...14,782,202
Ensembl chr  X:14,776,293...14,782,202
JBrowse link
Thrombocytopenia 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ptprj protein tyrosine phosphatase, receptor type, J ISO ClinVar Annotator: match by term: Thrombocytopenia 10 OMIM
ClinVar
PMID:30591527 NCBI chr 3:76,405,917...76,561,842
Ensembl chr 3:76,405,927...76,562,260
JBrowse link
Thrombocytopenia 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rap1b RAP1B, member of RAS oncogene family ISO ClinVar Annotator: match by term: Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies OMIM
ClinVar
PMID:12213964 PMID:25741868 PMID:25935485 PMID:29235861 PMID:32627184 More... NCBI chr 7:53,423,039...53,456,349
Ensembl chr 7:53,423,130...53,456,370
JBrowse link
Thrombocytopenia 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gne glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase ISO ClinVar Annotator: match by term: Thrombocytopenia 12 with or without myopathy OMIM
ClinVar
PMID:11528398 PMID:12177386 PMID:12473753 PMID:12473769 PMID:12497639 More... NCBI chr 5:58,267,189...58,307,396
Ensembl chr 5:58,267,210...58,307,499
JBrowse link
THROMBOCYTOPENIA 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gale UDP-galactose-4-epimerase ISO ClinVar Annotator: match by term: Thrombocytopenia 13, syndromic OMIM
ClinVar
PMID:16385452 PMID:18188677 PMID:25741868 PMID:28492532 PMID:30247636 More... NCBI chr 5:148,193,886...148,198,392
Ensembl chr 5:148,194,791...148,198,388
JBrowse link
Thrombocytopenia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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
JBrowse link
G Ankrd26 ankyrin repeat domain containing 26 ISO ClinVar Annotator: match by term: ANKRD26-related condition | ClinVar Annotator: match by term: Thrombocytopenia 2
DNA:mutations:5'utr:
OMIM
ClinVar
RGD
PMID:10521306 PMID:17666371 PMID:20626622 PMID:21211618 PMID:21467542 More... RGD:9681743 NCBI chr 4:151,670,604...151,740,032
Ensembl chr 4:151,672,037...151,739,968
JBrowse link
G Mastl microtubule associated serine/threonine kinase-like ISO ClinVar Annotator: match by term: Thrombocytopenia 2 ClinVar PMID:10891439 PMID:12890928 PMID:19460416 PMID:22102272 PMID:25741868 More... NCBI chr17:85,250,512...85,287,479
Ensembl chr17:85,251,997...85,287,353
JBrowse link
Thrombocytopenia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fyb1 FYN binding protein 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Thrombocytopenia 3
OMIM
CTD
ClinVar
PMID:25741868 PMID:25876182 NCBI chr 2:55,621,585...55,781,206
Ensembl chr 2:55,632,698...55,779,629
JBrowse link
Thrombocytopenia 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cycs cytochrome c, somatic ISO DNA:mutation:cds:c.145T>C(p.Y48H)(human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Thrombocytopenia 4
OMIM
CTD
ClinVar
RGD
PMID:18345000 PMID:22102269 PMID:24326104 PMID:25741868 PMID:28492532 More... RGD:11352699 NCBI chr 4:79,651,894...79,653,994
Ensembl chr 4:79,651,378...79,654,054
Ensembl chr18:79,651,378...79,654,054
JBrowse link
Thrombocytopenia 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Etv6 ETS variant transcription factor 6 ISO ClinVar Annotator: match by term: Thrombocytopenia 5 OMIM
ClinVar
PMID:9536098 PMID:9694803 PMID:15806161 PMID:17576681 PMID:17988997 More... NCBI chr 4:166,849,031...167,085,211
Ensembl chr 4:166,847,686...167,084,992
JBrowse link
Thrombocytopenia 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Src SRC proto-oncogene, non-receptor tyrosine kinase ISO ClinVar Annotator: match by term: Thrombocytopenia 6 OMIM
ClinVar
PMID:25741868 PMID:26936507 PMID:32581362 NCBI chr 3:146,091,969...146,139,492
Ensembl chr 3:146,091,841...146,139,476
JBrowse link
Thrombocytopenia 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agxt alanine--glyoxylate aminotransferase ISO Hyperoxaluria, primary, type I (Oxalosis I) OMIA PMID:1672096 PMID:2394849 PMID:22486513 NCBI chr 9:93,675,384...93,685,337
Ensembl chr 9:93,675,384...93,685,336
JBrowse link
G Ikzf5 IKAROS family zinc finger 5 ISO ClinVar Annotator: match by term: Thrombocytopenia 7 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
JBrowse link
Thrombocytopenia 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actb actin, beta ISO ClinVar Annotator: match by term: Thrombocytopenia 8, with dysmorphic features and developmental delay OMIM
ClinVar
PMID:10411937 PMID:25255767 PMID:28492532 PMID:30315159 PMID:30733661 More... NCBI chr12:11,663,112...11,666,697
Ensembl chr12:11,663,109...11,672,877
JBrowse link
Thrombocytopenia 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Thpo thrombopoietin ISO ClinVar Annotator: match by term: Thrombocytopenia 9 OMIM
ClinVar
PMID:25741868 PMID:28466964 PMID:28492532 PMID:28559357 PMID:31064749 More... Ensembl chr11:80,182,820...80,188,167 JBrowse link
thrombocytopenia due to platelet alloimmunization term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fcgr3a Fc gamma receptor 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
JBrowse link
G Socs1 suppressor of cytokine signaling 1 ISO ClinVar Annotator: match by term: IMMUNE THROMBOCYTOPENIA ClinVar PMID:33087723 NCBI chr10:4,882,651...4,884,342
Ensembl chr10:4,882,560...4,884,383
JBrowse link
Thrombocytopenia, Anemia, and Myelofibrosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mpig6b megakaryocyte and platelet inhibitory receptor G6b ISO ClinVar Annotator: match by term: Thrombocytopenia, anemia, and myelofibrosis OMIM
ClinVar
PMID:23112346 PMID:25741868 PMID:27743390 PMID:28492532 NCBI chr20:3,757,396...3,761,024
Ensembl chr20:3,757,536...3,760,735
JBrowse link
thrombocytopenia-absent radius syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acp6 acid phosphatase 6, lysophosphatidic ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr 2:184,711,975...184,733,067
Ensembl chr 2:184,711,619...184,733,017
JBrowse link
G Ankrd34a ankyrin repeat domain 34A ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar PMID:17236129 PMID:22366785 PMID:22581968 PMID:24220582 PMID:26233629 More... NCBI chr 2:184,129,830...184,135,075
Ensembl chr 2:184,129,238...184,135,116
JBrowse link
G Ankrd35 ankyrin repeat domain 35 ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar PMID:17236129 PMID:22366785 PMID:22581968 PMID:24220582 PMID:26233629 More... NCBI chr 2:184,207,076...184,227,063
Ensembl chr 2:184,207,071...184,227,063
JBrowse link
G Bcl9 BCL9, transcription coactivator ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr 2:184,760,616...184,846,261
Ensembl chr 2:184,760,618...184,786,435
JBrowse link
G Cd160 CD160 molecule ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr 2:184,340,820...184,383,421
Ensembl chr 2:184,340,599...184,375,834
JBrowse link
G Chd1l chromodomain helicase DNA binding protein 1-like ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr 2:185,138,526...185,217,498
Ensembl chr 2:185,139,308...185,217,595
JBrowse link
G Fmo5 flavin containing dimethylaniline monoxygenase 5 ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr 2:185,197,184...185,249,699
Ensembl chr 2:185,222,204...185,249,693
JBrowse link
G Gja5 gap junction protein, alpha 5 ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr 2:184,602,407...184,621,952
Ensembl chr 2:184,564,475...184,621,952
JBrowse link
G Gja8 gap junction protein, alpha 8 ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr 2:184,490,840...184,492,456
Ensembl chr 2:184,490,840...184,492,456
JBrowse link
G Gpr89b G protein-coupled receptor 89B ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr 2:184,408,136...184,445,560
Ensembl chr 2:184,401,438...184,445,584
JBrowse link
G Hjv hemojuvelin BMP co-receptor ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar PMID:17236129 PMID:22366785 PMID:22581968 PMID:24220582 PMID:26233629 More... NCBI chr 2:184,065,944...184,069,851
Ensembl chr 2:184,065,970...184,069,850
JBrowse link
G Itga10 integrin subunit alpha 10 ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar PMID:17236129 PMID:22366785 PMID:22581968 PMID:24220582 PMID:26233629 More... NCBI chr 2:184,182,869...184,202,172
Ensembl chr 2:184,182,869...184,202,172
JBrowse link
G Lix1l limb and CNS expressed 1 like ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar PMID:17236129 PMID:22366785 PMID:22581968 PMID:24220582 PMID:26233629 More... NCBI chr 2:184,136,018...184,161,918
Ensembl chr 2:184,136,038...184,161,916
JBrowse link
G LOC120098377 U1 spliceosomal RNA ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr18:79,901,335...79,901,477
Ensembl chr18:79,901,335...79,901,477
Ensembl chr18:79,901,335...79,901,477
JBrowse link
G LOC120101277 U1 spliceosomal RNA ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr 2:183,943,024...183,943,187
Ensembl chr 2:183,943,024...183,943,187
JBrowse link
G 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 More... NCBI chr 2:184,241,468...184,243,960
Ensembl chr 2:184,241,468...184,243,960
JBrowse link
G Pdzk1 PDZ domain containing 1 ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr 2:184,376,161...184,407,514
Ensembl chr 2:184,376,161...184,407,514
JBrowse link
G Pex11b peroxisomal biogenesis factor 11 beta ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar PMID:17236129 PMID:22366785 PMID:22581968 PMID:24220582 PMID:26233629 More... NCBI chr 2:184,172,041...184,180,972
Ensembl chr 2:184,172,004...184,181,495
JBrowse link
G Pias3 protein inhibitor of activated STAT, 3 ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar PMID:17236129 PMID:22366785 PMID:22581968 PMID:24220582 PMID:26233629 More... NCBI chr 2:184,232,546...184,241,455
Ensembl chr 2:184,232,571...184,241,480
JBrowse link
G Polr3c RNA polymerase III subunit C ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar PMID:17236129 PMID:22366785 PMID:22581968 PMID:24220582 PMID:26233629 More... NCBI chr 2:184,246,201...184,262,150
Ensembl chr 2:184,246,204...184,262,208
JBrowse link
G Polr3gl RNA polymerase III subunit GL ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar PMID:17236129 PMID:22366785 PMID:22581968 PMID:24220582 PMID:26233629 More... NCBI chr 2:184,111,570...184,129,200
Ensembl chr 2:184,112,510...184,129,114
JBrowse link
G Ppial4g peptidylprolyl isomerase A like 4G ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr15:74,015,628...74,016,215
Ensembl chr15:74,015,628...74,016,215
JBrowse link
G Prkab2 protein kinase AMP-activated non-catalytic subunit beta 2 ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr 2:185,257,218...185,272,846
Ensembl chr 2:185,257,213...185,269,872
JBrowse link
G Rbm8a RNA binding motif protein 8A ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9536098 PMID:16501574 PMID:17236129 PMID:17576681 PMID:20301781 More... NCBI chr 2:184,165,189...184,167,959
Ensembl chr 2:184,165,193...184,167,959
JBrowse link
G Rnf115 ring finger protein 115 ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr 2:184,262,087...184,329,839
Ensembl chr 2:184,262,371...184,329,823
JBrowse link
G 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
JBrowse link
G 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 More... NCBI chr 2:184,093,079...184,096,882
Ensembl chr 2:184,092,991...184,096,886
JBrowse link
Thrombocytopenic Purpura term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gp9 glycoprotein IX (platelet) ISO RGD PMID:23103637 RGD:11040532 NCBI chr 4:120,235,500...120,237,110
Ensembl chr 4:120,235,421...120,237,110
JBrowse link
G Itga2b integrin subunit alpha 2b ISO RGD PMID:11493456 RGD:2316362 NCBI chr10:87,408,532...87,426,055
Ensembl chr10:87,408,536...87,426,168
JBrowse link
G Itgb3 integrin subunit beta 3 ISO associated with HIV Infections RGD PMID:11493456 PMID:8565280 RGD:2316362, RGD:10755471 NCBI chr10:89,509,917...89,564,679
Ensembl chr10:89,509,989...89,564,679
JBrowse link
G Vwf von Willebrand factor ISO RGD PMID:14727254 RGD:1580644 NCBI chr 4:158,360,152...158,491,539
Ensembl chr 4:158,360,152...158,491,539
JBrowse link
Thrombotic Microangiopathies term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamts13 ADAM metallopeptidase with thrombospondin type 1 motif, 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14625834 PMID:16388419 NCBI chr 3:10,299,264...10,338,464
Ensembl chr 3:10,300,028...10,346,687
JBrowse link
G 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
JBrowse link
G C3 complement C3 treatment IDA RGD PMID:11532096 RGD:5129554 NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429
JBrowse link
G Cd46 CD46 molecule ISO ClinVar Annotator: match by term: Thrombotic microangiopathy ClinVar PMID:16199547 PMID:16621965 PMID:16762990 PMID:23431077 PMID:23519521 More... NCBI chr13:106,575,586...106,606,325
Ensembl chr13:106,574,858...106,660,445
JBrowse link
G Cfh complement factor H ISO associated with Kidney Failure, Chronic;DNA:missense mutations:exon:p.N516K (c.1548T>A), p.Q950H (c.2850G>T), p.K1186H (c.3557A>C) (human)
ClinVar Annotator: match by term: Thrombotic microangiopathy
ClinVar
RGD
PMID:25741868 PMID:26283675 PMID:28492532 PMID:34912830 PMID:18557729 RGD:11041165 NCBI chr13:51,512,376...51,613,829
Ensembl chr13:51,511,828...51,613,838
JBrowse link
G Cfi complement factor I ISO associated with Kidney Failure, Chronic;DNA:missense mutations, splice-site mutation:exon:multiple
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
JBrowse link
G Cpb2 carboxypeptidase B2 ISO DNA:polymorphism: ;1542C>G(human) RGD PMID:17327284 RGD:7243121 NCBI chr15:50,557,722...50,606,569
Ensembl chr15:50,557,717...50,606,556
JBrowse link
G F3 coagulation factor III, tissue factor ISO RGD PMID:19535796 RGD:11341690 NCBI chr 2:209,827,061...209,838,666
Ensembl chr 2:209,826,959...209,838,668
JBrowse link
G Fgg fibrinogen gamma chain ISO RGD PMID:17038160 RGD:11352673 NCBI chr 2:168,354,880...168,362,325
Ensembl chr 2:168,355,013...168,362,322
JBrowse link
G Gp6 glycoprotein VI ISO protein:increased expression:plasma (human) RGD PMID:24325877 RGD:401794444 NCBI chr 1:69,429,232...69,492,709
Ensembl chr 1:69,465,789...69,491,326
JBrowse link
G Itgb3 integrin subunit beta 3 ISO associated with Chronic Allograft Dysfunction;protein:increased expression:arteriole RGD PMID:18234279 RGD:10755463 NCBI chr10:89,509,917...89,564,679
Ensembl chr10:89,509,989...89,564,679
JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility ISO DNA:transition:cds:g.677C>T (human) RGD PMID:19448163 RGD:6893633 NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
JBrowse link
G Nos2 nitric oxide synthase 2 IEP protein:Increased expression:kidney:neutrophil, endothelial cell, kidney: RGD PMID:10908153 RGD:11533936 NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
JBrowse link
G Nos3 nitric oxide synthase 3 IEP protein:decreased expression:kidney: RGD PMID:10908153 RGD:11533936 NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
JBrowse link
G 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
JBrowse link
G Vegfa vascular endothelial growth factor A ISO CTD Direct Evidence: marker/mechanism CTD PMID:22808199 NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
JBrowse link
G Vwf von Willebrand factor disease_progression ISO protein:increased expression:plasma RGD PMID:21153061 PMID:20439183 RGD:7205650, RGD:7207026 NCBI chr 4:158,360,152...158,491,539
Ensembl chr 4:158,360,152...158,491,539
JBrowse link
thrombotic thrombocytopenic purpura term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamts13 ADAM metallopeptidase with thrombospondin type 1 motif, 13 ISO ClinVar Annotator: match by term: ADAMTS13-related condition | 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:1787257 PMID:6433703 PMID:7094941 PMID:9536098 PMID:11563771 More... RGD:10449043, RGD:1598736, RGD:10449037, RGD:10449028 NCBI chr 3:10,299,264...10,338,464
Ensembl chr 3:10,300,028...10,346,687
JBrowse link
G Cd36 CD36 molecule ISO RGD PMID:7529543 RGD:11041104 NCBI chr 4:17,317,343...17,410,084
Ensembl chr 4:17,354,466...17,513,903
JBrowse link
G F3 coagulation factor III, tissue factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:7740478 NCBI chr 2:209,827,061...209,838,666
Ensembl chr 2:209,826,959...209,838,668
JBrowse link
G Proc protein C, inactivator of coagulation factors Va and VIIIa ISO RGD PMID:10936861 RGD:11100014 NCBI chr18:23,764,367...23,774,816
Ensembl chr18:23,764,368...23,775,133
JBrowse link
G RT1-Bb RT1 class II, locus Bb ISO DNA:polymorphisms:cds:HLA-DQB1*0301 (human) RGD PMID:19922436 RGD:11041754 NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
JBrowse link
G Tfpi tissue factor pathway inhibitor treatment ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:7740478 PMID:7740478 RGD:11340214 NCBI chr 3:69,533,156...69,582,547
Ensembl chr 3:69,533,156...69,576,880
JBrowse link
G Thbd thrombomodulin ISO CTD Direct Evidence: marker/mechanism CTD PMID:7740478 NCBI chr 3:135,863,366...135,867,018
Ensembl chr 3:135,862,835...135,867,193
JBrowse link
Thrombotic Thrombocytopenic Purpura, Acquired term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamts13 ADAM metallopeptidase with thrombospondin type 1 motif, 13 treatment ISO ClinVar Annotator: match by term: Moschowitz syndrome
human protein in a rat model
ClinVar
RGD
PMID:16796708 PMID:16807643 PMID:17003922 PMID:18031293 PMID:22529288 More... RGD:10449039, RGD:10449097 NCBI chr 3:10,299,264...10,338,464
Ensembl chr 3:10,300,028...10,346,687
JBrowse link
G Vwf von Willebrand factor treatment ISO RGD PMID:26863353 RGD:11079195 NCBI chr 4:158,360,152...158,491,539
Ensembl chr 4:158,360,152...158,491,539
JBrowse link
X-linked thrombocytopenia with beta-thalassemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gata1 GATA binding protein 1 ISO ClinVar Annotator: match by term: Beta-thalassemia-X-linked thrombocytopenia syndrome | ClinVar Annotator: match by term: Thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:871527 PMID:12200364 PMID:14691578 PMID:16783379 PMID:17148589 More... NCBI chr  X:14,529,706...14,537,530
Ensembl chr  X:14,529,702...14,537,530
JBrowse link
X-Linked Thrombocytopenia, Intermittent term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Was WASP actin nucleation promoting factor ISO ClinVar Annotator: match by term: Thrombocytopenia, X-linked, intermittent ClinVar PMID:11877312 NCBI chr  X:14,405,105...14,413,850
Ensembl chr  X:14,405,124...14,413,849
JBrowse link
X-Linked Thrombocytopenia, with or without Dyserythropoietic Anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 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
JBrowse link
G 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
JBrowse link
XEROSIS AND GROWTH FAILURE WITH IMMUNE AND PULMONARY DYSFUNCTION SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dbr1 debranching RNA lariats 1 ISO ClinVar Annotator: match by term: Xerosis and growth failure with immune and pulmonary dysfunction syndrome ClinVar
OMIM
PMID:25741868 PMID:37656279 NCBI chr 8:100,139,039...100,150,768
Ensembl chr 8:100,139,034...100,151,030
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19076
    disease of anatomical entity 18367
      hematopoietic system disease 3531
        blood coagulation disease 1048
          hemorrhagic disease 1002
            blood platelet disease 452
              thrombocytopenia 327
                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 + 3
                Rhizomelic Osteochondrodysplasia with Callosal Agenesis, Thrombocytopenia, Hydrocephalus, and Hypertension 0
                Spastic Paraplegia and Evans Syndrome 0
                THROMBOCYTOPENIA 13 1
                Takenouchi-Kosaki Syndrome 1
                Tetraphocomelia-Thrombocytopenia Syndrome 0
                Thrombocytopenia 1 43
                Thrombocytopenia 10 1
                Thrombocytopenia 11 1
                Thrombocytopenia 12 1
                Thrombocytopenia 2 3
                Thrombocytopenia 3 1
                Thrombocytopenia 4 1
                Thrombocytopenia 5 1
                Thrombocytopenia 6 1
                Thrombocytopenia 7 2
                Thrombocytopenia 8 1
                Thrombocytopenia 9 1
                Thrombocytopenia Absent Ulnar Syndrome 0
                Thrombocytopenia with Elevated Serum Iga and Renal Disease 0
                Thrombocytopenia, Anemia, and Myelofibrosis 1
                Thrombocytopenia, Cyclic 0
                Thrombotic Microangiopathies + 94
                X-Linked Thrombocytopenia, Intermittent 1
                X-Linked Thrombocytopenia, with or without Dyserythropoietic Anemia 2
                X-linked thrombocytopenia with beta-thalassemia 1
                XEROSIS AND GROWTH FAILURE WITH IMMUNE AND PULMONARY DYSFUNCTION SYNDROME 1
                acquired thrombocytopenia + 11
                congenital amegakaryocytic thrombocytopenia + 2
                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 + 5
                thrombocytopenia-absent radius syndrome 27
                transient neonatal thrombocytopenia 0
Path 2
Term Annotations click to browse term
  disease 19076
    disease of anatomical entity 18367
      Hemic and Lymphatic Diseases 4043
        hematopoietic system disease 3531
          blood coagulation disease 1048
            hemorrhagic disease 1002
              blood platelet disease 452
                thrombocytopenia 327
                  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 + 3
                  Rhizomelic Osteochondrodysplasia with Callosal Agenesis, Thrombocytopenia, Hydrocephalus, and Hypertension 0
                  Spastic Paraplegia and Evans Syndrome 0
                  THROMBOCYTOPENIA 13 1
                  Takenouchi-Kosaki Syndrome 1
                  Tetraphocomelia-Thrombocytopenia Syndrome 0
                  Thrombocytopenia 1 43
                  Thrombocytopenia 10 1
                  Thrombocytopenia 11 1
                  Thrombocytopenia 12 1
                  Thrombocytopenia 2 3
                  Thrombocytopenia 3 1
                  Thrombocytopenia 4 1
                  Thrombocytopenia 5 1
                  Thrombocytopenia 6 1
                  Thrombocytopenia 7 2
                  Thrombocytopenia 8 1
                  Thrombocytopenia 9 1
                  Thrombocytopenia Absent Ulnar Syndrome 0
                  Thrombocytopenia with Elevated Serum Iga and Renal Disease 0
                  Thrombocytopenia, Anemia, and Myelofibrosis 1
                  Thrombocytopenia, Cyclic 0
                  Thrombotic Microangiopathies + 94
                  X-Linked Thrombocytopenia, Intermittent 1
                  X-Linked Thrombocytopenia, with or without Dyserythropoietic Anemia 2
                  X-linked thrombocytopenia with beta-thalassemia 1
                  XEROSIS AND GROWTH FAILURE WITH IMMUNE AND PULMONARY DYSFUNCTION SYNDROME 1
                  acquired thrombocytopenia + 11
                  congenital amegakaryocytic thrombocytopenia + 2
                  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 + 5
                  thrombocytopenia-absent radius syndrome 27
                  transient neonatal thrombocytopenia 0
paths to the root