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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: Thrombopenia;   thrombocytopenias;   thrombopenias
 primary_id: MESH:D013921
 xref: ICD10CM:D69.6;   ICD9CM:287.5;   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 NCBI chr 6:7,935,771...7,961,207
Ensembl chr 6:7,935,771...7,961,207
JBrowse link
G Abcg8 ATP binding cassette subfamily G member 8 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:25741868, PMID:28492532, PMID:31064749 NCBI chr 6:7,961,413...7,980,708
Ensembl chr 6:7,961,413...7,980,708
JBrowse link
G Acbd5 acyl-CoA binding domain containing 5 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:25741868, PMID:28492532 NCBI chr17:89,882,465...89,923,982
Ensembl chr17:89,883,615...89,923,423
JBrowse link
G Actn1 actinin, alpha 1 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:25741868, PMID:31064749, PMID:31237726, PMID:32581362 NCBI chr 6:103,376,557...103,470,497
Ensembl chr 6:103,375,799...103,470,555
JBrowse link
G Alb albumin ISO CTD Direct Evidence: marker/mechanism CTD PMID:6734075 NCBI chr14:19,176,275...19,191,793
Ensembl chr14:19,176,277...19,191,863
JBrowse link
G Ankrd26 ankyrin repeat domain 26 ISO
ISS
ClinVar Annotator: match by term: Thrombocytopenia
OMIM:188000 | OMIM:273900 | OMIM:300367 | OMIM:313900 | OMIM:612004
ClinVar
MouseDO
PMID:10521306, PMID:20626622, PMID:21211618, PMID:21467542, PMID:23677566, PMID:25741868, PMID:31064749, PMID:32581362 NCBI chr 4:150,548,656...150,616,928
Ensembl chr 4:150,547,467...150,616,895
JBrowse link
G Aspg asparaginase ISO CTD Direct Evidence: marker/mechanism CTD PMID:2187653 NCBI chr 6:136,682,279...136,701,673
Ensembl chr 6:136,682,126...136,701,628
JBrowse link
G Brip1 BRCA1 interacting protein C-terminal helicase 1 ISO human gene in a mouse model RGD PMID:15613547 RGD:11252148 NCBI chr10:73,507,009...73,632,742
Ensembl chr10:73,507,100...73,629,581
JBrowse link
G Cbr1 carbonyl reductase 1 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:32581362 NCBI chr11:33,813,041...33,815,418
Ensembl chr11:33,845,463...33,847,793
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 ISO associated with Lupus Erythematosus, Systemic;DNA:snp:promoter:g.-2518A>G (human) RGD PMID:20414371 RGD:11528535 NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
JBrowse link
G Cd40lg CD40 ligand treatment ISO associated with Malaria RGD PMID:11865192 RGD:11352243 NCBI chr  X:159,703,703...159,714,886
Ensembl chr  X:159,703,578...159,716,562
JBrowse link
G Cep290 centrosomal protein 290 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:30311386 NCBI chr 7:40,217,269...40,306,327
Ensembl chr 7:40,217,269...40,306,327
JBrowse link
G Chd8 chromodomain helicase DNA binding protein 8 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:30311386 NCBI chr15:28,612,932...28,672,574
Ensembl chr15:28,612,932...28,672,569
JBrowse link
G Chek2 checkpoint kinase 2 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:10617473, PMID:11053450, PMID:11479205, PMID:11719428, PMID:11967536, PMID:12094328, PMID:12533788, PMID:12690581, PMID:14648717, PMID:14648718, PMID:14648719, PMID:15122511, PMID:15488637, PMID:15492928, PMID:15520402, PMID:16257342, PMID:16492927, PMID:16880452, PMID:17085682, PMID:18172190, PMID:19338683, PMID:19805189, PMID:21807500, PMID:21956126, PMID:22006311, PMID:22058428, PMID:22419737, PMID:22811390, PMID:22994785, PMID:23469205, PMID:24033266, PMID:24884479, PMID:25431674, PMID:25741868, PMID:26084796, PMID:26467025, PMID:26641009, PMID:26681312, PMID:26822237, PMID:26845104, PMID:26884562, PMID:27083775, PMID:27153395, PMID:27269948, PMID:27433846, PMID:27751358, PMID:27798748, PMID:28125075, PMID:28135145, PMID:28195393, PMID:28492532, PMID:28503720, PMID:28514723, PMID:28727877, PMID:28734145, PMID:28779002, PMID:28802053, PMID:28874143, PMID:29351919, PMID:29489754, PMID:30311386 NCBI chr12:51,845,574...51,878,098
Ensembl chr12:51,845,796...51,877,624
JBrowse link
G Clic6 chloride intracellular channel 6 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:32581362 NCBI chr11:32,655,653...32,698,004
Ensembl chr11:32,655,616...32,699,382
JBrowse link
G Cnksr2 connector enhancer of kinase suppressor of Ras 2 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:30311386 NCBI chr  X:39,711,001...39,953,860
Ensembl chr  X:39,711,201...39,951,847
JBrowse link
G Col4a4 collagen type IV alpha 4 chain ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:24033266, PMID:25741868 NCBI chr 9:88,314,763...88,357,183
Ensembl chr 9:88,232,455...88,357,182
JBrowse link
G Csf2 colony stimulating factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8297739 NCBI chr10:39,602,089...39,604,070
Ensembl chr10:39,602,089...39,604,070
JBrowse link
G Csf3 colony stimulating factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:7543699, PMID:12085204 NCBI chr10:86,616,785...86,619,160
Ensembl chr10:86,616,785...86,619,157
JBrowse link
G Cycs cytochrome c, somatic no_association ISO DNA:transition mutation:exon:p.G41S(human)
ClinVar Annotator: match by term: Thrombocytopenia
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:18345000, PMID:24326104, PMID:25741868, PMID:31064749, PMID:32581362, PMID:18345000, PMID:19172527 RGD:11352700, RGD:11352702 NCBI chr 4:80,331,226...80,333,326
Ensembl chr 4:80,331,227...80,333,326
JBrowse link
G Dst dystonin ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:30311386 NCBI chr 9:37,902,336...38,296,961
Ensembl chr 9:37,902,303...38,196,273
JBrowse link
G Dync2li1 dynein cytoplasmic 2 light intermediate chain 1 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:25741868, PMID:31064749 NCBI chr 6:7,900,962...7,933,795
Ensembl chr 6:7,900,972...7,933,796
JBrowse link
G Epo erythropoietin ISO CTD Direct Evidence: therapeutic CTD PMID:8260696 NCBI chr12:22,274,828...22,278,268
Ensembl chr12:22,274,828...22,278,266
JBrowse link
G Etv6 ETS variant transcription factor 6 ISO ClinVar Annotator: match by term: Thrombocytopenia
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:25581430, PMID:25741868, PMID:25807284, PMID:31064749, PMID:32581362 NCBI chr 4:167,754,684...167,992,370
Ensembl chr 4:167,754,525...167,992,168
JBrowse link
G F7 coagulation factor VII treatment ISO human protein in a rat model RGD PMID:19175492 RGD:11049531 NCBI chr16:81,824,610...81,834,923
Ensembl chr16:81,824,111...81,834,945
JBrowse link
G Fcgr2a Fc fragment of IgG receptor IIa ISO CTD Direct Evidence: marker/mechanism CTD PMID:11588041, PMID:10201963 RGD:11040944 NCBI chr13:91,146,878...91,163,691
Ensembl chr13:91,168,973...91,198,036
Ensembl chr13:91,168,973...91,198,036
JBrowse link
G Fga fibrinogen alpha chain treatment IMP RGD PMID:2005585 RGD:10755505 NCBI chr 2:181,997,562...182,013,726
Ensembl chr 2:182,006,242...182,013,763
JBrowse link
G Fli1 Fli-1 proto-oncogene, ETS transcription factor ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:24100448, PMID:32581362, PMID:15232614 RGD:1582490 NCBI chr 8:33,541,932...33,661,111
Ensembl chr 8:33,543,258...33,661,049
JBrowse link
G Fyb1 FYN binding protein 1 ISS OMIM:188000 | OMIM:273900 | OMIM:300367 | OMIM:313900 | OMIM:612004 MouseDO NCBI chr 2:55,834,904...55,983,805
Ensembl chr 2:55,835,151...55,983,804
JBrowse link
G Gata1 GATA binding protein 1 ISO ClinVar Annotator: match by term: Thrombocytopenia
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:11418466, PMID:16966598, PMID:17763153, PMID:18041654, PMID:23278136, PMID:25741868, PMID:31064749, PMID:32581362, PMID:16966598 RGD:10450735 NCBI chr  X:15,273,937...15,281,759
Ensembl chr  X:15,378,789...15,382,066
JBrowse link
G Gfi1b growth factor independent 1B transcriptional repressor ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:25741868, PMID:31064749 NCBI chr 3:7,190,721...7,203,444
Ensembl chr 3:7,190,722...7,203,420
JBrowse link
G Gne glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:24796702, PMID:25741868, PMID:26980148, PMID:31064749 NCBI chr 5:59,511,738...59,553,421
Ensembl chr 5:59,512,872...59,553,416
JBrowse link
G Gp1ba glycoprotein Ib platelet subunit alpha ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:8384898, PMID:25741868, PMID:31064749, PMID:11001906 RGD:10450849 NCBI chr10:57,260,680...57,263,546
Ensembl chr10:57,260,680...57,263,546
JBrowse link
G Gp1bb glycoprotein Ib platelet subunit beta ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Thrombocytopenia
CTD
ClinVar
PMID:10887115, PMID:15213848, PMID:25741868, PMID:31064749, PMID:32581362 NCBI chr11:86,520,992...86,522,169
Ensembl chr11:86,520,992...86,522,169
JBrowse link
G Gp9 glycoprotein IX (platelet) ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Thrombocytopenia
CTD
ClinVar
PMID:8049428, PMID:8481514, PMID:14510954, PMID:15225244, PMID:25370924, PMID:25741868, PMID:28131619, PMID:28492532, PMID:28765788, PMID:31064749 NCBI chr 4:119,680,671...119,682,006
Ensembl chr 4:119,680,112...119,682,547
JBrowse link
G Ifnl3 interferon, lambda 3 treatment ISO associated with Hepatitis C, Chronic;DNA:SNP: :rs8099917(human) RGD PMID:24304453 RGD:11528555 NCBI chr 1:85,236,243...85,237,775
Ensembl chr 1:85,236,243...85,237,775
JBrowse link
G Il10 interleukin 10 severity ISO associated with Malaria, Vivax RGD PMID:25128199, PMID:11091188 RGD:11041893, RGD:11049172 NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
JBrowse link
G Il1b interleukin 1 beta treatment ISO RGD PMID:1331350 RGD:10450883 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
JBrowse link
G Il3 interleukin 3 ISO CTD Direct Evidence: therapeutic CTD PMID:8202718 NCBI chr10:39,620,535...39,622,973
Ensembl chr10:39,620,563...39,622,973
JBrowse link
G Il6 interleukin 6 severity ISO associated with Malaria, Vivax RGD PMID:25128199 RGD:11041893 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G Itga2 integrin subunit alpha 2 ISO associated with Hantavirus Infections;DNA:SNP: :807C>T (rs1126643) (human) RGD PMID:22133274 RGD:11530072 NCBI chr 2:46,996,904...47,097,011
Ensembl chr 2:47,000,323...47,096,961
JBrowse link
G Itga2b integrin subunit alpha 2b ISO DNA:missense mutation: :p.R995W (human)
ClinVar Annotator: match by term: Thrombocytopenia
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:1638023, PMID:9834222, PMID:15225244, PMID:21454453, PMID:22102273, PMID:25741868, PMID:28492532, PMID:29090484, PMID:31064749, PMID:31119735, PMID:32581362, PMID:21454453 RGD:10755467 NCBI chr10:90,397,960...90,416,550
Ensembl chr10:90,398,132...90,415,070
JBrowse link
G Itgb3 integrin subunit beta 3 ISO DNA:splice-site mutation:intron:c.2134+1G>C (human)
ClinVar Annotator: match by term: Thrombocytopenia
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:15225244, PMID:25741868, PMID:31064749, PMID:32581362, PMID:19336737 RGD:10755449 NCBI chr10:92,667,869...92,783,413
Ensembl chr10:92,667,869...92,783,410
JBrowse link
G Itpa inosine triphosphatase treatment ISO associated with Hepatitis C;DNA:missense mutation, splice-site mutaion:exon, intron:p.P32T (rs1127354), rs7270101 (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:18662289, PMID:24519039 RGD:10766473 NCBI chr 3:123,209,611...123,221,266
Ensembl chr 3:123,209,608...123,221,269
JBrowse link
G Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:32581362 NCBI chr11:32,498,260...32,511,202
Ensembl chr11:32,498,261...32,508,420
JBrowse link
G Kcne2 potassium voltage-gated channel subfamily E regulatory subunit 2 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:32581362 NCBI chr11:32,434,786...32,447,264
Ensembl chr11:32,440,237...32,447,259
JBrowse link
G LOC100364500 RT1 class I, locus CE11-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:3459889 NCBI chr20:2,704,153...2,707,111
Ensembl chr20:2,704,148...2,707,120
JBrowse link
G Mastl microtubule associated serine/threonine kinase-like ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:25741868, PMID:28492532, PMID:12890928 RGD:1598951 NCBI chr17:89,839,562...89,875,855
Ensembl chr17:89,742,140...89,876,825
JBrowse link
G Mbl2 mannose binding lectin 2 susceptibility ISO associated with Dengue;DNA:SNP:exon: RGD PMID:18361938 RGD:11530042 NCBI chr 1:248,435,069...248,442,669
Ensembl chr 1:248,723,397...248,729,962
JBrowse link
G Mecom MDS1 and EVI1 complex locus ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:32581362 NCBI chr 2:117,396,084...117,993,604
Ensembl chr 2:117,396,007...117,454,769
JBrowse link
G Mpl MPL proto-oncogene, thrombopoietin receptor ISO
IEP
congenital amegakaryocytic thrombocytopenia, OMIM:604498, DNA:point mutation:Q186X, frameshift:1499delT
ClinVar Annotator: match by term: Thrombocytopenia
associated with Lupus Erythematosus, Systemic
protein:decreased expression:blood, platelet (rat)
ClinVar PMID:8073287, PMID:10971406, PMID:11133753, PMID:11972523, PMID:16470591, PMID:18240171, PMID:18422784, PMID:19302922, PMID:21225925, PMID:21489838, PMID:21659346, PMID:24033266, PMID:24119002, PMID:24438083, PMID:24728327, PMID:25538044, PMID:25741868, PMID:26854587, PMID:28492532, PMID:28859041, PMID:31064749, PMID:32581362, PMID:10077649, PMID:8630375, PMID:12209520, PMID:15670044 RGD:1600454, RGD:10449017, RGD:10449011, RGD:10448997 NCBI chr 5:137,268,412...137,282,032
Ensembl chr 5:137,269,480...137,281,298
JBrowse link
G Mrps6 mitochondrial ribosomal protein S6 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:32581362 NCBI chr11:32,208,246...32,263,999
Ensembl chr11:32,211,115...32,263,899
JBrowse link
G Mthfr methylenetetrahydrofolate reductase no_association ISO associated with Precursor Cell Lymphoblastic Leukemia-Lymphoma;DNA:SNP: :1298A>C (human)
CTD Direct Evidence: marker/mechanism
associated with Precursor Cell Lymphoblastic Leukemia-Lymphoma;DNA:SNP: :677C>T, 1793G>A (human)
CTD PMID:19391036, PMID:23498762, PMID:23498762 RGD:10449418, RGD:10449418 NCBI chr 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
JBrowse link
G Myh9 myosin, heavy chain 9 ISO May-Hegglin anomaly, OMIM:155100, DNA:point mutation:exon:R1933X
ClinVar Annotator: match by term: Thrombocytopenia
ClinVar PMID:25741868, PMID:31064749, PMID:10973259 RGD:1600553 NCBI chr 7:118,740,005...118,792,507
Ensembl chr 7:118,741,110...118,792,625
JBrowse link
G P2ry12 purinergic receptor P2Y12 ISO associated with Thrombosis RGD PMID:21652673 RGD:6480523 NCBI chr 2:149,440,807...149,482,592
Ensembl chr 2:149,441,598...149,444,548
JBrowse link
G Pecam1 platelet and endothelial cell adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10848805 NCBI chr10:94,850,971...94,913,202 JBrowse link
G Pf4 platelet factor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8282825, PMID:9158107, PMID:9446652, PMID:10381515, PMID:11588041, PMID:15795722, PMID:20162249 NCBI chr14:18,848,549...18,849,258
Ensembl chr14:18,848,549...18,849,258
JBrowse link
G Rcan1 regulator of calcineurin 1 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:32581362 NCBI chr11:32,539,689...32,620,274
Ensembl chr11:32,539,683...32,550,539
JBrowse link
G Runx1 RUNX family transcription factor 1 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:10508512, PMID:17485549, PMID:17650443, PMID:18723428, PMID:19357396, PMID:22318203, PMID:23751892, PMID:25741868, PMID:26316320, PMID:27112265, PMID:27418648, PMID:27479822, PMID:28492532, PMID:31064749, PMID:32581362, PMID:15784726 RGD:11251691 NCBI chr11:32,765,147...33,003,061
Ensembl chr11:32,769,165...33,003,021
JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:25741868, PMID:28259615, PMID:28492532, PMID:30311386 NCBI chr 1:87,959,596...88,066,252
Ensembl chr 1:87,959,712...88,066,101
JBrowse link
G Setd4 SET domain containing 4 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:32581362 NCBI chr11:33,781,869...33,803,121
Ensembl chr11:33,781,870...33,801,999
JBrowse link
G Slc1a1 solute carrier family 1 member 1 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:30311386 NCBI chr 1:246,955,017...247,035,159
Ensembl chr 1:246,954,980...247,037,056
JBrowse link
G Slc4a1 solute carrier family 4 member 1 (Diego blood group) ISO mRNA:decreased expression:erythrocyte (mouse) RGD PMID:22279059 RGD:10450520 NCBI chr10:90,296,144...90,312,401
Ensembl chr10:90,296,141...90,312,386
JBrowse link
G Slc5a3 solute carrier family 5 member 3 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:32581362 NCBI chr11:32,229,366...32,231,812 JBrowse link
G Smim11a small integral membrane protein 11A ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:32581362 NCBI chr11:32,450,508...32,460,244
Ensembl chr11:32,450,587...32,460,238
JBrowse link
G Sparc secreted protein acidic and cysteine rich ISO CTD Direct Evidence: marker/mechanism CTD PMID:27725143 NCBI chr10:40,742,390...40,764,232
Ensembl chr10:40,742,400...40,764,185
JBrowse link
G Spata6l spermatogenesis associated 6-like ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:30311386 NCBI chr 1:247,037,004...247,088,124
Ensembl chr 1:247,046,650...247,088,012
JBrowse link
G Tbxa2r thromboxane A2 receptor IMP RGD PMID:2528013 RGD:11059527 NCBI chr 7:11,253,153...11,259,233
Ensembl chr 7:11,253,180...11,257,977
JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO protein:decreased expression:plasma: RGD PMID:22134166 RGD:11073617 NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
JBrowse link
G Tnf tumor necrosis factor severity ISO associated with Hemorrhagic Fever with Renal Syndrome;DNA:SNP:promoter:-238G>A (human)
associated with Malaria, Vivax
RGD PMID:16987073, PMID:25128199 RGD:10449459, RGD:11041893 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Tnfrsf10b TNF receptor superfamily member 10b ISO CTD Direct Evidence: marker/mechanism CTD PMID:19652058 NCBI chr15:51,433,853...51,464,215 JBrowse link
G Tubb1 tubulin, beta 1 class VI ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:25741868, PMID:31064749 NCBI chr 3:172,550,252...172,558,089
Ensembl chr 3:172,550,258...172,558,114
JBrowse link
G Was WASP actin nucleation promoting factor ISS
ISO
OMIM:188000 | OMIM:273900 | OMIM:300367 | OMIM:313900 | OMIM:612004
ClinVar Annotator: match by term: Thrombocytopenia
MouseDO
ClinVar
PMID:7753869, PMID:8666397, PMID:8757563, PMID:9326235, PMID:11167787, PMID:12969986, PMID:15284122, PMID:19817875, PMID:21185603, PMID:23160469, PMID:25741868, PMID:28492532, PMID:28641574, PMID:31064749 NCBI chr  X:15,155,246...15,164,099
Ensembl chr  X:15,155,230...15,164,105
JBrowse link
G Wdr1 WD repeat domain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17515402 NCBI chr14:76,990,014...77,023,739
Ensembl chr14:76,989,919...77,023,726
JBrowse link
G Wwox WW domain-containing oxidoreductase ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:30311386 NCBI chr19:46,761,353...47,695,247 JBrowse link
G Xdh xanthine dehydrogenase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Thrombocytopenia
CTD
ClinVar
PMID:2510358, PMID:25741868, PMID:28492532 NCBI chr 6:25,149,570...25,211,273
Ensembl chr 6:25,149,235...25,211,494
JBrowse link
G Yme1l1 YME1-like 1 ATPase ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar NCBI chr17:89,701,899...89,741,919
Ensembl chr17:89,704,102...89,741,321
JBrowse link
atypical hemolytic-uremic syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamts13 ADAM metallopeptidase with thrombospondin type 1 motif, 13 ISO protein:decreased activity:serum (human) RGD PMID:12640381 RGD:10449096 NCBI chr 3:5,519,921...5,558,390
Ensembl chr 3:5,519,990...5,558,166
JBrowse link
G Baat bile acid CoA:amino acid N-acyltransferase ISO ClinVar Annotator: match by term: atypical hemolytic uremic syndrome ClinVar NCBI chr 5:64,768,397...64,777,368
Ensembl chr 5:64,768,401...64,777,368
JBrowse link
G C2 complement C2 ISO ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4
ClinVar PMID:2249879, PMID:6308626, PMID:8181962, PMID:16518403, PMID:16936732, PMID:18806293, PMID:20108004, PMID:20513133, PMID:21541267, PMID:22440158, PMID:24033266, PMID:24652797, PMID:25741868 NCBI chr20:4,542,340...4,561,152
Ensembl chr20:4,542,340...4,561,152
JBrowse link
G C3 complement C3 susceptibility ISO ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5
ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:612925
DNA:missense mutations: :p.F603V, p.R1042L, p.I1157T (human)
ClinVar
CTD
OMIM
PMID:1976733, PMID:14639503, PMID:17634448, PMID:18325906, PMID:18796626, PMID:19168221, PMID:20301541, PMID:20595690, PMID:23314101, PMID:23431077, PMID:24036949, PMID:24036950, PMID:24036952, PMID:24736606, PMID:24845532, PMID:25608561, PMID:25741868, PMID:25951460, PMID:26613027, PMID:28492532, PMID:17517971, PMID:20513133 RGD:7364995, RGD:11040768 NCBI chr 9:9,721,137...9,747,084
Ensembl chr 9:9,721,105...9,747,167
JBrowse link
G C3ar1 complement C3a receptor 1 ISO ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1 ClinVar NCBI chr 4:155,681,767...155,691,240
Ensembl chr 4:155,684,029...155,690,869
JBrowse link
G Cd46 CD46 molecule susceptibility
severity
ISO ClinVar Annotator: match by OMIM:612922
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2
ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome
CTD Direct Evidence: marker/mechanism
protein:increased expression:peripheral blood mononuclear cell (human)
DNA:snp:intron:c.IVS8+23T>G (rs2724374) (human)
DNA:missense mutations:cds:p.R69W, p.A304V (human)
DNA:mutations:cds:multiple (human)
ClinVar
OMIM
CTD
PMID:270646, PMID:3480783, PMID:9551389, PMID:10528197, PMID:14566051, PMID:14615110, PMID:16621965, PMID:16762990, PMID:16882452, PMID:17089378, PMID:20513133, PMID:21706448, PMID:23431077, PMID:23731345, PMID:24033266, PMID:24161037, PMID:24247905, PMID:24944786, PMID:25381125, PMID:25525159, PMID:25741868, PMID:25899302, PMID:26054645, PMID:26307634, PMID:26559391, PMID:28056875, PMID:28492532, PMID:16353080, PMID:20513133, PMID:17914026, PMID:20595690 RGD:11352810, RGD:11040768, RGD:11352768, RGD:11038684 NCBI chr13:113,786,525...113,818,741
Ensembl chr13:113,787,349...113,817,995
JBrowse link
G Cfb complement factor B susceptibility ISO DNA, protein:mutations:cds: c.858C>G, F286L, c.967A>G, K323E (human)
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4
ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome
CTD Direct Evidence: marker/mechanism
DNA:nonsense mutations: :multiple
ClinVar Annotator: match by OMIM:612924
ClinVar
OMIM
CTD
PMID:2249879, PMID:6308626, PMID:7452889, PMID:8181962, PMID:15661753, PMID:16518403, PMID:16936732, PMID:17182750, PMID:18806293, PMID:20108004, PMID:20513133, PMID:21541267, PMID:22440158, PMID:23847193, PMID:24033266, PMID:24652797, PMID:25741868, PMID:26054779, PMID:17182750, PMID:20513133 RGD:7242707, RGD:11040768 NCBI chr20:4,536,206...4,542,073
Ensembl chr20:4,536,203...4,561,066
Ensembl chr20:4,536,203...4,561,066
JBrowse link
G Cfh complement factor H susceptibility ISO
IMP
DNA:missense mutation
ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4
ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome
CTD Direct Evidence: marker/mechanism
DNA:nonsense mutations, missense mutations, splice-site mutation: :multiple
ClinVar Annotator: match by OMIM:235400
DNA:deletion:Cds:
DNA:SNPs,Haplotype::
ClinVar
OMIM
CTD
PMID:646435, PMID:8072530, PMID:9551389, PMID:9811382, PMID:9848786, PMID:10577907, PMID:10762557, PMID:11158219, PMID:11170895, PMID:11170896, PMID:11978762, PMID:12424708, PMID:12697737, PMID:14978182, PMID:15761120, PMID:15870199, PMID:16299065, PMID:16619239, PMID:17018561, PMID:17947292, PMID:18252712, PMID:18268093, PMID:18557729, PMID:19190809, PMID:19259132, PMID:19297022, PMID:21415311, PMID:21909106, PMID:22019782, PMID:22171659, PMID:22223606, PMID:22389686, PMID:22403278, PMID:22456601, PMID:23852337, PMID:24036949, PMID:24498017, PMID:25037630, PMID:25741868, PMID:25814826, PMID:25880396, PMID:26559391, PMID:28492532, PMID:10577907, PMID:9811382, PMID:23243267, PMID:20513133, PMID:17517971, PMID:17517971, PMID:17517971 RGD:1599886, RGD:11041172, RGD:11041162, RGD:11040768, RGD:7364995, RGD:7364995, RGD:7364995 NCBI chr13:56,979,155...57,080,540
Ensembl chr13:56,978,607...57,080,622
JBrowse link
G Cfhr1 complement factor H-related 1 susceptibility ISO ClinVar Annotator: match by OMIM:235400
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to
DNA:deletion
ClinVar
CTD
OMIM
PMID:16998489, PMID:17367211, PMID:18006700, PMID:20843825, PMID:23243267 RGD:11041162 NCBI chr13:56,862,666...56,877,650
Ensembl chr13:56,836,994...56,877,650
JBrowse link
G Cfi complement factor I susceptibility ISO ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5
ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:612923
ClinVar
CTD
OMIM
PMID:15173250, PMID:16621965, PMID:18557729, PMID:18825487, PMID:19877009, PMID:20016463, PMID:20106822, PMID:20203157, PMID:20513133, PMID:20595690, PMID:22710145, PMID:23307876, PMID:23314101, PMID:23431077, PMID:23685748, PMID:23787556, PMID:24033266, PMID:24034049, PMID:24036952, PMID:24161037, PMID:25037630, PMID:25135378, PMID:25741868, PMID:25758434, PMID:27268256, PMID:28282489, PMID:28492532, PMID:15173250 RGD:6906889 NCBI chr 2:235,264,149...235,305,779
Ensembl chr 2:235,264,219...235,305,781
JBrowse link
G Dgke diacylglycerol kinase epsilon ISO ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome
ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 7
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: atypical hemolytic-uremic syndrome
ClinVar
CTD
PMID:23542698, PMID:24511134, PMID:24747643, PMID:25741868, PMID:29590070, PMID:30311386 NCBI chr10:76,375,981...76,408,224
Ensembl chr10:76,386,471...76,407,989
JBrowse link
G RGD1564614 similar to complement factor H-related protein susceptibility ISO ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to
ClinVar
CTD
OMIM
PMID:16998489, PMID:17367211, PMID:18006700, PMID:20843825 NCBI chr13:56,889,669...56,958,549
Ensembl chr13:56,889,669...56,958,561
JBrowse link
G Thbd thrombomodulin susceptibility
no_association
severity
ISO ClinVar Annotator: match by OMIM:612926
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 6
ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome
CTD Direct Evidence: marker/mechanism
DNA:SNPs:5' utr, 3' utr:multiple
DNA:missense mutations:CDS:multiple
ClinVar
OMIM
CTD
PMID:7811989, PMID:10460600, PMID:11986219, PMID:12139752, PMID:17677000, PMID:19625716, PMID:23332921, PMID:24933457, PMID:25135378, PMID:25741868, PMID:28492532, PMID:19625716, PMID:19625716, PMID:20595690 RGD:11038691, RGD:11038691, RGD:11038684 NCBI chr 3:142,748,673...142,752,325
Ensembl chr 3:142,748,674...142,752,325
JBrowse link
autoimmune thrombocytopenic purpura term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamts13 ADAM metallopeptidase with thrombospondin type 1 motif, 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19260037 NCBI chr 3:5,519,921...5,558,390
Ensembl chr 3:5,519,990...5,558,166
JBrowse link
G Alb albumin ISO RGD PMID:6683982 RGD:11036083 NCBI chr14:19,176,275...19,191,793
Ensembl chr14:19,176,277...19,191,863
JBrowse link
G Cd40 CD40 molecule ISO protein:increased expression:peripheral blood, B lymphocyte (human) RGD PMID:17654056 RGD:11344977 NCBI chr 3:161,519,789...161,534,943
Ensembl chr 3:161,519,743...161,534,704
JBrowse link
G Cd40lg CD40 ligand treatment ISO protein:increased expression:peripheral blood, T lymphocyte (human)
protein:decreased expression:serum (mouse)
RGD PMID:17654056, PMID:22537155, PMID:18341638, PMID:16188945 RGD:11344977, RGD:11352267, RGD:11352237, RGD:11344980 NCBI chr  X:159,703,703...159,714,886
Ensembl chr  X:159,703,578...159,716,562
JBrowse link
G Cd86 CD86 molecule treatment ISO protein:increased expression:peripheral blood mononuclear cell (human) RGD PMID:19379594, PMID:20581660 RGD:11354966, RGD:11520785 NCBI chr11:67,060,305...67,117,990
Ensembl chr11:67,082,193...67,118,795
JBrowse link
G Dnmt3a DNA methyltransferase 3 alpha ISO mRNA:decreased expression:mononuclear cell RGD PMID:18683034 RGD:9588662 NCBI chr 6:28,205,375...28,346,052
Ensembl chr 6:28,235,695...28,340,577
JBrowse link
G Dnmt3b DNA methyltransferase 3 beta susceptibility ISO mRNA:decreased expression:mononuclear cell
DNA:SNP:promoter: -579G>T(human)
RGD PMID:18683034, PMID:23000068 RGD:9588662, RGD:9589094 NCBI chr 3:149,131,541...149,170,061
Ensembl chr 3:149,131,785...149,208,786
JBrowse link
G Fas Fas cell surface death receptor ISO protein:increased expression:serum: RGD PMID:10776692 RGD:11049162 NCBI chr 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790
JBrowse link
G Fcgr2a Fc fragment of IgG receptor IIa no_association
susceptibility
treatment
ISO DNA:SNP:cds:p.R131H (human) RGD PMID:20699442, PMID:23249566, PMID:22123287, PMID:21131591 RGD:11040883, RGD:11040990, RGD:11040989, RGD:11040933 NCBI chr13:91,146,878...91,163,691
Ensembl chr13:91,168,973...91,198,036
Ensembl chr13:91,168,973...91,198,036
JBrowse link
G Fcgr2b Fc fragment of IgG receptor IIb treatment
disease_progression
ISO DNA:SNP: :p.I232T (human) RGD PMID:21131591, PMID:21045192, PMID:22257295, PMID:15566359, PMID:19549396 RGD:11040933, RGD:11344955, RGD:11344931, RGD:11344928, RGD:11344927 NCBI chr13:89,329,298...89,343,916
Ensembl chr13:89,327,794...89,433,815
JBrowse link
G Fcgr3a Fc fragment of IgG receptor IIIa treatment
susceptibility
ISO DNA:SNP:cds:p.V158F(human)
DNA:SNP:exon:p.F158V (rs396991) (human)
RGD PMID:11380443, PMID:23484707, PMID:22123287, PMID:15479722 RGD:11040776, RGD:11352255, RGD:11040989, RGD:11344926 NCBI chr13:89,385,775...89,396,047
Ensembl chr13:89,385,859...89,396,051
JBrowse link
G Gp1ba glycoprotein Ib platelet subunit alpha ISO RGD PMID:16861348 RGD:10450841 NCBI chr10:57,260,680...57,263,546
Ensembl chr10:57,260,680...57,263,546
JBrowse link
G Il10 interleukin 10 disease_progression ISO DNA:SNP:promoter:-627C>A (human)
DNA:SNPs, haplotypes:promoter:-1082A>G, -819C>T, -592C>A (human)
RGD PMID:25051072, PMID:22677268 RGD:11041894, RGD:11046267 NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
JBrowse link
G Il18 interleukin 18 ISO protein:increased expression:plasma: RGD PMID:24801815 RGD:11073600 NCBI chr 8:55,009,666...55,016,286
Ensembl chr 8:54,993,859...55,016,299
JBrowse link
G Il1a interleukin 1 alpha ISO DNA:SNP:promoter:-899C>T (human) RGD PMID:21591983 RGD:11051966 NCBI chr 3:121,824,712...121,836,122
Ensembl chr 3:121,825,412...121,836,086
JBrowse link
G Il1rn interleukin 1 receptor antagonist susceptibility ISO DNA:repeats:: RGD PMID:20626741 RGD:11528541 NCBI chr 3:1,449,778...1,468,624
Ensembl chr 3:1,452,644...1,468,614
JBrowse link
G Il2 interleukin 2 susceptibility ISO DNA:polymorphism::-330T>G(human) RGD PMID:20626741 RGD:11528541 NCBI chr 2:123,847,150...123,851,854
Ensembl chr 2:123,847,150...123,851,854
JBrowse link
G Il4 interleukin 4 disease_progression ISO DNA:repeat:intron RGD PMID:25051072 RGD:11041894 NCBI chr10:38,963,979...38,969,531
Ensembl chr10:38,963,979...38,969,531
JBrowse link
G Itgb3 integrin subunit beta 3 ISO RGD PMID:10936026, PMID:24258817 RGD:10755473, RGD:10755475 NCBI chr10:92,667,869...92,783,413
Ensembl chr10:92,667,869...92,783,410
JBrowse link
G Mir130a microRNA 130a ISO RNA:decreased expression:PBMC RGD PMID:24801815 RGD:11073600 NCBI chr 3:72,141,037...72,141,124
Ensembl chr 3:72,141,037...72,141,124
JBrowse link
G Mir3581 microRNA 3581 treatment ISO RGD PMID:23360331 RGD:10755694 NCBI chr 6:133,893,418...133,893,497
Ensembl chr 6:133,893,418...133,893,497
JBrowse link
G Mir409 microRNA 409 treatment ISO RGD PMID:23360331 RGD:10755694 NCBI chr 6:133,893,419...133,893,495 JBrowse link
G Plat plasminogen activator, tissue type ISO protein:increased expression:plasma (human) RGD PMID:2129164 RGD:11541072 NCBI chr16:74,098,263...74,122,897
Ensembl chr16:74,098,260...74,122,889
JBrowse link
G Ptpn22 protein tyrosine phosphatase, non-receptor type 22 no_association ISO DNA: snp: cds: C1858T
DNA:snp:cds:c.1858C>T (rs2476601) (human)
RGD PMID:21597364, PMID:27309885 RGD:6484673, RGD:11535019 NCBI chr 2:206,342,066...206,390,348
Ensembl chr 2:206,342,066...206,390,348
JBrowse link
G RT1-Bb RT1 class II, locus Bb treatment ISO DNA:polymorphisms:cds:HLA-DQB1*0401 (human) RGD PMID:10435723 RGD:11041758 NCBI chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
JBrowse link
G RT1-Db1 RT1 class II, locus Db1 treatment ISO DNA:polymorphisms:cds:HLA-DRB1*0901, HLA-DRB1*0410 (human) RGD PMID:10435723 RGD:11041758 NCBI chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
JBrowse link
G Socs1 suppressor of cytokine signaling 1 ISO ClinVar Annotator: match by term: Autoimmune thrombocytopenia ClinVar NCBI chr10:4,956,795...4,958,472
Ensembl chr10:4,957,326...4,958,461
JBrowse link
G Tgfb1 transforming growth factor, beta 1 disease_progression ISO mRNA:increased expression: :
protein:decreased expression:plasma:
RGD PMID:11886393, PMID:24763013, PMID:24801815 RGD:11073598, RGD:11073603, RGD:11073600 NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
JBrowse link
autosomal dominant macrothrombocytopenia TUBB1-related term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tubb1 tubulin, beta 1 class VI ISO ClinVar Annotator: match by term: MACROTHROMBOCYTOPENIA, AUTOSOMAL DOMINANT, TUBB1-RELATED OMIM
ClinVar
PMID:18849486, PMID:25741868, PMID:31064749 NCBI chr 3:172,550,252...172,558,089
Ensembl chr 3:172,550,258...172,558,114
JBrowse link
autosomal dominant nonsyndromic deafness 17 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myh9 myosin, heavy chain 9 ISO ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 17
ClinVar Annotator: match by term: Deafness, autosomal dominant 17
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 17
OMIM
ClinVar
PMID:9390828, PMID:11023810, PMID:11590545, PMID:11752022, PMID:12533692, PMID:16969870, PMID:17146397, PMID:18059020, PMID:18676005, PMID:19557653, PMID:20588287, PMID:22123909, PMID:22477015, PMID:22995991, PMID:23144074, PMID:23349334, PMID:23409987, PMID:23804846, PMID:24033266, PMID:24130771, PMID:24186861, PMID:24643058, PMID:24890873, PMID:25077172, PMID:25505834, PMID:25741868, PMID:25752595, PMID:25949529, PMID:26226608, PMID:26346198, PMID:26467025, PMID:26969326, PMID:27068579, PMID:28059092, PMID:28492532, PMID:29090586, PMID:30311386, PMID:30720677, PMID:31064749 NCBI chr 7:118,740,005...118,792,507
Ensembl chr 7:118,741,110...118,792,625
JBrowse link
congenital amegakaryocytic thrombocytopenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mpl MPL proto-oncogene, thrombopoietin receptor ISO ClinVar Annotator: match by term: Congenital amegakaryocytic thrombocytopenia
ClinVar Annotator: match by OMIM:604498
OMIM
ClinVar
PMID:8073287, PMID:10077649, PMID:10971406, PMID:11071383, PMID:11133753, PMID:11392330, PMID:11972523, PMID:15269348, PMID:15531462, PMID:16219544, PMID:16470591, PMID:16834459, PMID:16868251, PMID:17054430, PMID:17666371, PMID:18240171, PMID:18422784, PMID:19036112, PMID:19302922, PMID:20188141, PMID:21162090, PMID:21225925, PMID:21228398, PMID:21489838, PMID:21659346, PMID:22180433, PMID:22389068, PMID:23103231, PMID:23625800, PMID:24033266, PMID:24119002, PMID:24438083, PMID:24728327, PMID:25538044, PMID:25741868, PMID:26854587, PMID:27418648, PMID:27449473, PMID:28492532, PMID:28697167, PMID:28859041, PMID:29384262, PMID:31064749, PMID:32581362 NCBI chr 5:137,268,412...137,282,032
Ensembl chr 5:137,269,480...137,281,298
JBrowse link
congenital disorder of glycosylation Ix term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Stt3b STT3 oligosaccharyltransferase complex catalytic subunit B ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1x
ClinVar Annotator: match by OMIM:615597
OMIM
ClinVar
PMID:23842455, PMID:25741868, PMID:28492532 NCBI chr 8:123,303,910...123,370,729
Ensembl chr 8:123,293,057...123,371,257
JBrowse link
Drug-Induced Immune Thrombocytopenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc2 ATP binding cassette subfamily C member 2 susceptibility ISO associated with Carcinoma, Non-Small-Cell Lung;DNA:SNP, haplotype:promoter,cds: 3972C>T, -24C>T(human) RGD PMID:20943283 RGD:11080978 NCBI chr 1:263,554,426...263,612,556
Ensembl chr 1:263,554,453...263,613,252
JBrowse link
G Dpyd dihydropyrimidine dehydrogenase treatment ISO associated with Neoplasms;DNA:SNP:intron:IVS14+1G>A (human)
associated with Stomach Neoplasms
RGD PMID:19473056, PMID:23064955 RGD:11098817, RGD:11251740 NCBI chr 2:221,823,692...222,694,627
Ensembl chr 2:221,823,687...222,694,627
JBrowse link
G Gstm1 glutathione S-transferase mu 1 susceptibility
treatment
ISO associated with Ovarian Neoplasms;DNA:deletion: : (human)
associated with diffuse large B-cell lymphoma; DNA:deletion:cds:
RGD PMID:19786980, PMID:20303013 RGD:5688741, RGD:10450835 NCBI chr 2:210,803,869...210,809,461
Ensembl chr 2:210,803,869...210,809,306
JBrowse link
G Gstt1 glutathione S-transferase theta 1 treatment ISO associated with diffuse large B-cell lymphoma; DNA:deletion:cds: RGD PMID:20303013 RGD:10450835 NCBI chr20:13,799,102...13,816,527
Ensembl chr20:13,799,102...13,816,526
JBrowse link
G Il1a interleukin 1 alpha treatment ISO associated with Carcinoma, Non-Small-Cell Lung
associated with Ovarian Neoplasms
RGD PMID:7666093, PMID:8151314 RGD:11051963, RGD:11051964 NCBI chr 3:121,824,712...121,836,122
Ensembl chr 3:121,825,412...121,836,086
JBrowse link
G Il1b interleukin 1 beta treatment ISO associated with Glioblastoma; RGD PMID:1331350 RGD:10450883 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
JBrowse link
G Pecam1 platelet and endothelial cell adhesion molecule 1 severity ISO RGD PMID:10942385, PMID:17234740 RGD:11541093, RGD:11541120 NCBI chr10:94,850,971...94,913,202 JBrowse link
Evans Syndrome, Immunodeficiency, and Premature Immunosenescence associated with Tripeptidyl-Peptidase II Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tpp2 tripeptidyl peptidase 2 ISO ClinVar Annotator: match by term: Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ClinVar PMID:25414442, PMID:28492532, PMID:30533531 NCBI chr 9:50,664,048...50,744,803
NCBI chr 9:50,578,868...50,628,943
Ensembl chr 9:50,581,234...50,744,803
JBrowse link
hemolytic-uremic syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alb albumin ISO CTD Direct Evidence: marker/mechanism CTD PMID:6734075 NCBI chr14:19,176,275...19,191,793
Ensembl chr14:19,176,277...19,191,863
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 IEP protein:increased expression:plasma (rat) RGD PMID:10201001 RGD:11528527 NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
JBrowse link
G Ccl3 C-C motif chemokine ligand 3 ISO RGD PMID:17220320 RGD:7241820 NCBI chr10:70,869,516...70,871,066
Ensembl chr10:70,869,513...70,871,066
JBrowse link
G Cd36 CD36 molecule ISO RGD PMID:16197457 RGD:6893534 NCBI chr 4:14,150,309...14,191,498
Ensembl chr 4:14,001,761...14,249,749
JBrowse link
G Cd46 CD46 molecule susceptibility ISO DNA:frameshift mutation:cds:p.N233X3 (human)
DNA:mutations:multiple (human)
DNA:deletion, missense mutation:cds:p.D237_S238del, p.S206P (human)
RGD PMID:14615110, PMID:16189652, PMID:14566051 RGD:11352767, RGD:11531138, RGD:11352770 NCBI chr13:113,786,525...113,818,741
Ensembl chr13:113,787,349...113,817,995
JBrowse link
G Cfh complement factor H ISO
ISS
DNA:mutations, polymorphisms:promoter, exon:multiple
OMIM:235400 | OMIM:612922 | OMIM:612923 | OMIM:612924 | OMIM:612925 | OMIM:612926
MouseDO PMID:14583443 RGD:11041164 NCBI chr13:56,979,155...57,080,540
Ensembl chr13:56,978,607...57,080,622
JBrowse link
G Dgke diacylglycerol kinase epsilon ISO ClinVar Annotator: match by term: Hemolytic-uremic syndrome ClinVar PMID:25854283 NCBI chr10:76,375,981...76,408,224
Ensembl chr10:76,386,471...76,407,989
JBrowse link
G Epo erythropoietin ISO CTD Direct Evidence: therapeutic CTD PMID:12053072 NCBI chr12:22,274,828...22,278,268
Ensembl chr12:22,274,828...22,278,266
JBrowse link
G Fos Fos proto-oncogene, AP-1 transcription factor subunit ISO RGD PMID:15632024 RGD:7242276 NCBI chr 6:109,300,433...109,303,299
Ensembl chr 6:109,300,433...109,303,299
JBrowse link
G Hp haptoglobin ISO RGD PMID:6218601 RGD:1626361 NCBI chr19:42,096,255...42,100,805
Ensembl chr19:42,097,995...42,100,804
JBrowse link
G Il1a interleukin 1 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:15384034 NCBI chr 3:121,824,712...121,836,122
Ensembl chr 3:121,825,412...121,836,086
JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:15384034 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
JBrowse link
G Il1rl1 interleukin 1 receptor-like 1 severity ISO associated with Escherichia Coli Infections; RGD PMID:30467800 RGD:39458200 NCBI chr 9:47,133,483...47,184,316
Ensembl chr 9:47,134,034...47,182,170
JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO protein:increased concentration:serum (human) RGD PMID:9802632, PMID:12373296 RGD:6909134, RGD:6909171 NCBI chr 3:1,449,778...1,468,624
Ensembl chr 3:1,452,644...1,468,614
JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15384034 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G Mbl2 mannose binding lectin 2 treatment ISO RGD PMID:27378476 RGD:11530050 NCBI chr 1:248,435,069...248,442,669
Ensembl chr 1:248,723,397...248,729,962
JBrowse link
G Nqo1 NAD(P)H quinone dehydrogenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12588957 NCBI chr19:38,422,210...38,437,103
Ensembl chr19:38,422,164...38,437,180
JBrowse link
G Pla2g7 phospholipase A2 group VII severity ISO associated with Escherichia coli Infections; DNA:transversion mutation: :994 G>T (human) RGD PMID:10873870 RGD:7257516 NCBI chr 9:19,935,754...19,978,013
Ensembl chr 9:19,935,768...19,978,013
JBrowse link
G Plat plasminogen activator, tissue type ISO associated with Escherichia coli Infections;protein:increased expression:plasma (human) RGD PMID:11777999 RGD:11541069 NCBI chr16:74,098,263...74,122,897
Ensembl chr16:74,098,260...74,122,889
JBrowse link
G Thbd thrombomodulin ISO RGD PMID:22942429 RGD:11038690 NCBI chr 3:142,748,673...142,752,325
Ensembl chr 3:142,748,674...142,752,325
JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:15384034 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
Heparin-induced Thrombocytopenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fcgr2a Fc fragment of IgG receptor IIa ISO RGD PMID:8772238 RGD:11040889 NCBI chr13:91,146,878...91,163,691
Ensembl chr13:91,168,973...91,198,036
Ensembl chr13:91,168,973...91,198,036
JBrowse link
G Fcgr3a Fc fragment of IgG receptor IIIa susceptibility ISO DNA:SNP:cds:p.V158F(human) RGD PMID:15191947 RGD:11040991 NCBI chr13:89,385,775...89,396,047
Ensembl chr13:89,385,859...89,396,051
JBrowse link
G Il10 interleukin 10 no_association ISO DNA:repeats, haplotype:promoter
DNA:SNPs:promoter:rs1800896 (-1082G/A), rs1800871 (-819C/T), rs1800872 (-592C/A) (human)
RGD PMID:22239992, PMID:22239992 RGD:11049164, RGD:11049164 NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
JBrowse link
IVIC syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sall4 spalt-like transcription factor 4 ISO ClinVar Annotator: match by term: IVIC syndrome
ClinVar Annotator: match by OMIM:147750
OMIM
ClinVar
PMID:17256792 NCBI chr 3:165,520,155...165,538,176
Ensembl chr 3:165,520,392...165,537,940
JBrowse link
Jacobsen Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acad8 acyl-CoA dehydrogenase family, member 8 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:28,023,401...28,044,967
Ensembl chr 8:28,024,123...28,044,876
JBrowse link
G Acrv1 acrosomal vesicle protein 1 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:39,164,991...39,170,568
Ensembl chr 8:39,164,916...39,170,736
JBrowse link
G Adamts15 ADAM metallopeptidase with thrombospondin type 1 motif, 15 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:31,977,001...32,000,378
Ensembl chr 8:31,977,001...32,000,378
JBrowse link
G Adamts8 ADAM metallopeptidase with thrombospondin type 1 motif, 8 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:32,017,684...32,037,529
Ensembl chr 8:32,018,560...32,037,531
JBrowse link
G Aplp2 amyloid beta precursor like protein 2 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:32,298,526...32,328,821
Ensembl chr 8:32,298,532...32,328,839
JBrowse link
G Arhgap32 Rho GTPase activating protein 32 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:33,131,874...33,392,198
Ensembl chr 8:33,239,139...33,392,305
JBrowse link
G B3gat1 beta-1,3-glucuronyltransferase 1 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:27,777,024...27,804,368
Ensembl chr 8:27,777,179...27,804,515
JBrowse link
G Barx2 BARX homeobox 2 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:32,950,878...33,018,245
Ensembl chr 8:32,950,875...33,017,854
JBrowse link
G Ccdc15 coiled-coil domain containing 15 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:39,759,077...39,830,235
Ensembl chr 8:39,762,035...39,830,306
JBrowse link
G Cdon cell adhesion associated, oncogene regulated ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:36,625,757...36,712,091
Ensembl chr 8:36,625,733...36,710,949
JBrowse link
G Chek1 checkpoint kinase 1 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:39,181,162...39,201,588
Ensembl chr 8:39,181,163...39,243,882
JBrowse link
G Dcps decapping enzyme, scavenger ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:36,321,992...36,374,665
Ensembl chr 8:36,321,993...36,374,673
JBrowse link
G Ddx25 DEAD-box helicase 25 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:36,744,686...36,760,720
Ensembl chr 8:36,744,667...36,760,742
JBrowse link
G Ei24 EI24, autophagy associated transmembrane protein ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:39,254,883...39,271,238
Ensembl chr 8:39,254,889...39,266,959
JBrowse link
G Esam endothelial cell adhesion molecule ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:39,997,875...40,008,802
Ensembl chr 8:39,997,875...40,008,809
JBrowse link
G Ets1 ETS proto-oncogene 1, transcription factor ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:33,756,634...33,879,625
Ensembl chr 8:33,816,386...33,879,625
JBrowse link
G Fam118b family with sequence similarity 118, member B ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:36,416,769...36,467,609
Ensembl chr 8:36,416,997...36,467,627
JBrowse link
G Fez1 fasciculation and elongation protein zeta 1 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:39,305,128...39,350,270
Ensembl chr 8:39,305,128...39,350,270
JBrowse link
G Fli1 Fli-1 proto-oncogene, ETS transcription factor ISO ClinVar Annotator: match by term: 11q partial monosomy syndrome
ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia
ClinVar PMID:25741868, PMID:28255014, PMID:31064749, PMID:32581362 NCBI chr 8:33,541,932...33,661,111
Ensembl chr 8:33,543,258...33,661,049
JBrowse link
G Foxred1 FAD-dependent oxidoreductase domain containing 1 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:36,401,317...36,410,589
Ensembl chr 8:36,403,493...36,410,612
JBrowse link
G Glb1l2 galactosidase, beta 1-like 2 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:27,805,139...27,853,080
Ensembl chr 8:27,807,301...27,852,996
JBrowse link
G Glb1l3 galactosidase, beta 1-like 3 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:27,865,452...27,907,726
Ensembl chr 8:27,865,350...27,907,911
JBrowse link
G Hepacam hepatic and glial cell adhesion molecule ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:39,848,264...39,866,969
Ensembl chr 8:39,848,448...39,865,130
JBrowse link
G Hyls1 HYLS1, centriolar and ciliogenesis associated ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:36,763,470...36,772,199
Ensembl chr 8:36,763,481...36,764,422
JBrowse link
G Igsf9b immunoglobulin superfamily, member 9B ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:28,352,497...28,398,659
Ensembl chr 8:28,352,772...28,387,383
JBrowse link
G Jam3 junctional adhesion molecule 3 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:28,147,110...28,208,466
Ensembl chr 8:28,147,111...28,208,466
JBrowse link
G Kcnj1 potassium inwardly-rectifying channel, subfamily J, member 1 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:33,490,280...33,519,127
Ensembl chr 8:33,514,042...33,518,165
JBrowse link
G Kcnj5 potassium inwardly-rectifying channel, subfamily J, member 5 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:33,435,493...33,463,410
Ensembl chr 8:33,433,905...33,463,467
JBrowse link
G Kirrel3 kirre like nephrin family adhesion molecule 3 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:35,692,525...36,254,755
Ensembl chr 8:36,125,999...36,254,753
JBrowse link
G Msantd2 Myb/SANT DNA binding domain containing 2 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:39,959,162...39,994,279
Ensembl chr 8:39,960,542...39,993,630
JBrowse link
G Ncapd3 non-SMC condensin II complex, subunit D3 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:28,075,629...28,145,024
Ensembl chr 8:28,075,551...28,144,741
JBrowse link
G Nfrkb nuclear factor related to kappa B binding protein ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:32,530,412...32,561,955
Ensembl chr 8:32,530,412...32,561,955
JBrowse link
G Nrgn neurogranin ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:40,015,049...40,023,193
Ensembl chr 8:40,015,049...40,023,193
JBrowse link
G Ntm neurotrimin ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:30,039,332...31,041,755
Ensembl chr 8:30,039,408...30,222,036
JBrowse link
G Olr1194 olfactory receptor 1194 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:40,191,902...40,192,831
Ensembl chr 8:40,191,902...40,192,831
JBrowse link
G Olr1196 olfactory receptor 1196 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:40,258,985...40,259,917
Ensembl chr 8:40,258,985...40,259,917
JBrowse link
G Olr1201 olfactory receptor 1201 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:40,383,997...40,384,929
Ensembl chr 8:40,383,918...40,384,966
JBrowse link
G Olr1202 olfactory receptor 1202 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:40,410,700...40,414,063
Ensembl chr 8:40,410,604...40,411,648
JBrowse link
G Olr1235 olfactory receptor 1235 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 4:1,470,716...1,471,657
Ensembl chr 4:1,470,716...1,471,657
JBrowse link
G Opcml opioid binding protein/cell adhesion molecule-like ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:28,842,202...29,967,300
Ensembl chr 8:29,453,643...29,962,825
JBrowse link
G Panx3 pannexin 3 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:40,126,379...40,137,390
Ensembl chr 8:40,126,342...40,137,390
JBrowse link
G Pate1 prostate and testis expressed 1 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:36,874,700...36,876,931
Ensembl chr 8:36,874,700...36,876,931
JBrowse link
G Pate2 prostate and testis expressed 2 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:36,772,362...36,879,228
Ensembl chr 8:36,850,324...36,851,609
JBrowse link
G Pate3 prostate and testis expressed 3 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:36,840,359...36,842,370
Ensembl chr 8:36,840,359...36,842,370
JBrowse link
G Pate4 prostate and testis expressed 4 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:36,815,007...36,817,747
Ensembl chr 8:36,815,007...36,817,747
JBrowse link
G Pknox2 PBX/knotted 1 homeobox 2 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:39,361,698...39,551,700
Ensembl chr 8:39,361,218...39,551,700
JBrowse link
G Prdm10 PR/SET domain 10 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:32,419,921...32,526,357
Ensembl chr 8:32,452,885...32,526,351
JBrowse link
G Pus3 pseudouridine synthase 3 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:36,760,874...36,769,167
Ensembl chr 8:36,766,977...36,769,162
JBrowse link
G Robo3 roundabout guidance receptor 3 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:39,892,792...39,923,735
Ensembl chr 8:39,892,792...39,907,478
JBrowse link
G Robo4 roundabout guidance receptor 4 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:39,082,693...39,093,344
Ensembl chr 8:39,083,327...39,093,277
JBrowse link
G Rpusd4 RNA pseudouridine synthase D4 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:36,467,706...36,477,190
Ensembl chr 8:36,467,706...36,477,189
JBrowse link
G Siae sialic acid acetylesterase ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:40,078,269...40,113,514
Ensembl chr 8:40,078,269...40,113,514
JBrowse link
G Slc37a2 solute carrier family 37 member 2 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:39,708,678...39,735,042
Ensembl chr 8:39,708,638...39,734,594
JBrowse link
G Snx19 sorting nexin 19 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:31,497,034...31,534,077
Ensembl chr 8:31,497,639...31,534,077
JBrowse link
G Spa17 sperm autoantigenic protein 17 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:40,066,954...40,078,131
Ensembl chr 8:40,067,076...40,078,165
JBrowse link
G Spata19 spermatogenesis associated 19 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:28,454,938...28,460,645
Ensembl chr 8:28,454,962...28,459,835
JBrowse link
G Srpra SRP receptor subunit alpha ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:36,410,683...36,416,766
Ensembl chr 8:36,410,683...36,416,296
JBrowse link
G St14 ST14 transmembrane serine protease matriptase ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:32,240,113...32,280,813
Ensembl chr 8:32,240,133...32,280,869
JBrowse link
G St3gal4 ST3 beta-galactoside alpha-2,3-sialyltransferase 4 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:36,264,741...36,314,811
Ensembl chr 8:36,264,750...36,314,811
JBrowse link
G Stt3a STT3 oligosaccharyltransferase complex catalytic subunit A ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:39,204,218...39,243,751
Ensembl chr 8:39,181,163...39,243,882
JBrowse link
G Tbrg1 transforming growth factor beta regulator 1 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:40,114,792...40,122,450
Ensembl chr 8:40,114,792...40,122,450
JBrowse link
G Thyn1 thymocyte nuclear protein 1 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:28,045,093...28,053,974
Ensembl chr 8:28,045,093...28,054,040
JBrowse link
G Tirap TIR domain containing adaptor protein ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:36,382,029...36,399,625
Ensembl chr 8:36,385,353...36,388,224
JBrowse link
G Tmem218 transmembrane protein 218 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:39,687,280...39,702,722
Ensembl chr 8:39,687,269...39,702,902
JBrowse link
G Tmem45b transmembrane protein 45b ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:32,563,872...32,609,212
Ensembl chr 8:32,563,874...32,609,212
JBrowse link
G Vps26b VPS26 retromer complex component B ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:28,054,407...28,075,514
Ensembl chr 8:28,054,407...28,075,514
JBrowse link
G Vsig2 V-set and immunoglobulin domain containing 2 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:40,009,691...40,014,734
Ensembl chr 8:40,009,691...40,014,734
JBrowse link
G Zbtb44 zinc finger and BTB domain containing 44 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:32,165,388...32,223,341
Ensembl chr 8:32,165,810...32,217,476
JBrowse link
Kaposiform Hemangioendothelioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgf2 fibroblast growth factor 2 ISO RGD PMID:14517397 RGD:8655667 NCBI chr 2:124,081,072...124,134,133
Ensembl chr 2:124,081,072...124,134,681
JBrowse link
G Gna14 G protein subunit alpha 14 ISO ClinVar Annotator: match by term: Kaposiform hemangioendothelioma ClinVar PMID:27476652 NCBI chr 1:235,165,775...235,347,986
Ensembl chr 1:235,166,718...235,347,937
JBrowse link
MYH-9 related disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myh9 myosin, heavy chain 9 ISO DNA:missense mutation:exon:p.R702H(human)
ClinVar Annotator: match by term: Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
ClinVar Annotator: match by term: MYH9-related disorder
ClinVar Annotator: match by term: Epstein syndrome
ClinVar Annotator: match by term: Sebastian syndrome
ClinVar Annotator: match by term: May-Hegglin anomaly
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: MYH9 related disorders
ClinVar Annotator: match by OMIM:153640
ClinVar Annotator: match by OMIM:155100
DNA:mutation:cds:p.R702C(mouse)
DNA:mutation:exon:p.E1841K(human)
DNA:missense mutations:exons:multiple
ClinVar
CTD
OMIM
PMID:1449176, PMID:5011389, PMID:8280620, PMID:9390828, PMID:10603121, PMID:10739770, PMID:10973259, PMID:10973260, PMID:11023810, PMID:11093280, PMID:11159552, PMID:11590545, PMID:11752022, PMID:11935325, PMID:12533692, PMID:12621333, PMID:12649151, PMID:12792306, PMID:15613099, PMID:15667538, PMID:16969870, PMID:17146397, PMID:18059020, PMID:18676005, PMID:19450438, PMID:19557653, PMID:20588287, PMID:22123909, PMID:22477015, PMID:22995991, PMID:23144074, PMID:23349334, PMID:23409987, PMID:23804846, PMID:24033266, PMID:24130771, PMID:24186861, PMID:24643058, PMID:24875298, PMID:24890873, PMID:25077172, PMID:25505834, PMID:25741868, PMID:25752595, PMID:25949529, PMID:26226608, PMID:26346198, PMID:26467025, PMID:26969326, PMID:27068579, PMID:28059092, PMID:28492532, PMID:29090586, PMID:30311386, PMID:30720677, PMID:31064749, PMID:11935325, PMID:23976996, PMID:16806139, PMID:11752022 RGD:6902926, RGD:11533924, RGD:11532766, RGD:6903235 NCBI chr 7:118,740,005...118,792,507
Ensembl chr 7:118,741,110...118,792,625
JBrowse link
Neonatal Alloimmune Thrombocytopenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Itga2b integrin subunit alpha 2b ISO ClinVar Annotator: match by term: BAK PLATELET-SPECIFIC ANTIGEN ClinVar PMID:1926040, PMID:25741868 NCBI chr10:90,397,960...90,416,550
Ensembl chr10:90,398,132...90,415,070
JBrowse link
G Itgb3 integrin subunit beta 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: PEN(a)/PEN(b) ALLOANTIGEN POLYMORPHISM
ClinVar Annotator: match by term: Ca/Tu ALLOANTIGEN POLYMORPHISM
ClinVar Annotator: match by term: Fetal and neonatal alloimmune thrombocytopenia
CTD
ClinVar
PMID:1430225, PMID:2257303, PMID:7694683, PMID:8457479, PMID:9787162, PMID:14516468, PMID:21658138, PMID:25827233, PMID:28370162, PMID:28492532 NCBI chr10:92,667,869...92,783,413
Ensembl chr10:92,667,869...92,783,410
JBrowse link
platelet-type bleeding disorder 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actn1 actinin, alpha 1 ISO ClinVar Annotator: match by term: Platelet-type bleeding disorder 15
ClinVar Annotator: match by OMIM:615193
OMIM
ClinVar
PMID:23434115, PMID:25741868, PMID:31064749, PMID:31237726, PMID:32581362 NCBI chr 6:103,376,557...103,470,497
Ensembl chr 6:103,375,799...103,470,555
JBrowse link
G Fli1 Fli-1 proto-oncogene, ETS transcription factor ISO ClinVar Annotator: match by term: Bleeding disorder platelet type macrothrombocytopenia ClinVar PMID:23809206, PMID:26316623 NCBI chr 8:33,541,932...33,661,111
Ensembl chr 8:33,543,258...33,661,049
JBrowse link
platelet-type bleeding disorder 17 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gfi1b growth factor independent 1B transcriptional repressor ISO ClinVar Annotator: match by term: Platelet-type bleeding disorder 17 ClinVar
OMIM
PMID:1065298, PMID:5681484, PMID:23927492, PMID:28041820 NCBI chr 3:7,190,721...7,203,444
Ensembl chr 3:7,190,722...7,203,420
JBrowse link
platelet-type bleeding disorder 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Itga2 integrin subunit alpha 2 ISO ClinVar Annotator: match by term: Platelet-type bleeding disorder 9
ClinVar Annotator: match by OMIM:614200
OMIM
ClinVar
PMID:19500323, PMID:22862885, PMID:28492532 NCBI chr 2:46,996,904...47,097,011
Ensembl chr 2:47,000,323...47,096,961
JBrowse link
G Mocs2 molybdenum cofactor synthesis 2 ISO ClinVar Annotator: match by term: Platelet-type bleeding disorder 9 ClinVar NCBI chr 2:46,980,964...46,992,886
Ensembl chr 2:46,980,976...46,992,883
JBrowse link
Posttransfusion Purpura term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Itgb3 integrin subunit beta 3 ISO ClinVar Annotator: match by term: PEN(a)/PEN(b) ALLOANTIGEN POLYMORPHISM OMIM
ClinVar
PMID:1430225, PMID:9787162, PMID:14516468, PMID:21658138, PMID:28492532 NCBI chr10:92,667,869...92,783,413
Ensembl chr10:92,667,869...92,783,410
JBrowse link
Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hoxa11 homeobox A11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24239177 NCBI chr 4:82,296,888...82,301,419
Ensembl chr 4:82,298,152...82,300,503
Ensembl chr 4:82,298,152...82,300,503
JBrowse link
Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hoxa11 homeobox A11 ISO ClinVar Annotator: match by term: Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 OMIM
ClinVar
PMID:11101832 NCBI chr 4:82,296,888...82,301,419
Ensembl chr 4:82,298,152...82,300,503
Ensembl chr 4:82,298,152...82,300,503
JBrowse link
Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mecom MDS1 and EVI1 complex locus ISO ClinVar Annotator: match by term: Radioulnar synostosis with amegakaryocytic thrombocytopenia 2
ClinVar Annotator: match by OMIM:616738
OMIM
ClinVar
PMID:20091385, PMID:25741868, PMID:26581901 NCBI chr 2:117,396,084...117,993,604
Ensembl chr 2:117,396,007...117,454,769
JBrowse link
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:7473653, PMID:8103286, PMID:10898977, PMID:11025683, PMID:11149925, PMID:11864373, PMID:12195014, PMID:12478284, PMID:12687501, PMID:12915473, PMID:14561717, PMID:15269155, PMID:15884002, PMID:16949823, PMID:17050694, PMID:17540168, PMID:17918734, PMID:17970806, PMID:18245432, PMID:18511961, PMID:19092927, PMID:19700661, PMID:20633244, PMID:20878268, PMID:21423166, PMID:21515363, PMID:22266952, PMID:23382385, PMID:24059268, PMID:25741868, PMID:26386261, PMID:26708094, PMID:29394990 NCBI chr 5:155,690,267...155,728,385
Ensembl chr 5:155,691,390...155,728,300
JBrowse link
Thrombocytopenia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gata1 GATA binding protein 1 ISO associated with Beta-Thalassemia;DNA:missense mutation: :p.R216Q (human) RGD PMID:12200364 RGD:10450747 NCBI chr  X:15,273,937...15,281,759
Ensembl chr  X:15,378,789...15,382,066
JBrowse link
G Was WASP actin nucleation promoting factor ISO ClinVar Annotator: match by term: THROMBOCYTOPENIA, X-LINKED, 1
ClinVar Annotator: match by term: Thrombocytopenia, X-linked
ClinVar Annotator: match by OMIM:313900
OMIM
ClinVar
PMID:7753869, PMID:7795648, PMID:8528198, PMID:8528199, PMID:8595430, PMID:8666397, PMID:8757563, PMID:9326235, PMID:10575547, PMID:11167787, PMID:11442475, PMID:11793485, PMID:12199801, PMID:12591280, PMID:12727931, PMID:12969986, PMID:14504083, PMID:14612666, PMID:15284122, PMID:16562789, PMID:19817875, PMID:20173115, PMID:21185603, PMID:23160469, PMID:24210885, PMID:24728327, PMID:25741868, PMID:26261240, PMID:27264129, PMID:28492532, PMID:28641574, PMID:28931895, PMID:31064749 NCBI chr  X:15,155,246...15,164,099
Ensembl chr  X:15,155,230...15,164,105
JBrowse link
Thrombocytopenia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankrd26 ankyrin repeat domain 26 ISO ClinVar Annotator: match by term: Thrombocytopenia 2
DNA:mutations:5'utr:
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:10521306, PMID:17666371, PMID:20626622, PMID:21211618, PMID:23677566, PMID:25741868, PMID:28492532, PMID:29185836, PMID:31064749, PMID:32581362, PMID:21467542 RGD:9681743 NCBI chr 4:150,548,656...150,616,928
Ensembl chr 4:150,547,467...150,616,895
JBrowse link
G Mastl microtubule associated serine/threonine kinase-like ISO ClinVar Annotator: match by OMIM:188000
ClinVar Annotator: match by term: Thrombocytopenia 2
ClinVar PMID:10891439, PMID:12890928, PMID:19460416, PMID:22102272, PMID:25741868 NCBI chr17:89,839,562...89,875,855
Ensembl chr17:89,742,140...89,876,825
JBrowse link
Thrombocytopenia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fyb1 FYN binding protein 1 ISO ClinVar Annotator: match by term: Thrombocytopenia 3 ClinVar
OMIM
PMID:25876182 NCBI chr 2:55,834,904...55,983,805
Ensembl chr 2:55,835,151...55,983,804
JBrowse link
Thrombocytopenia 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cycs cytochrome c, somatic ISO ClinVar Annotator: match by term: Thrombocytopenia 4
ClinVar Annotator: match by OMIM:612004
DNA:mutation:cds:c.145T>C(p.Y48H)(human)
OMIM
ClinVar
PMID:18345000, PMID:24326104, PMID:25741868, PMID:30051457, PMID:31064749, PMID:24326104 RGD:11352699 NCBI chr 4:80,331,226...80,333,326
Ensembl chr 4:80,331,227...80,333,326
JBrowse link
THROMBOCYTOPENIA 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Etv6 ETS variant transcription factor 6 ISO ClinVar Annotator: match by term: Thrombocytopenia 5 OMIM
ClinVar
PMID:25581430, PMID:25741868, PMID:25807284 NCBI chr 4:167,754,684...167,992,370
Ensembl chr 4:167,754,525...167,992,168
JBrowse link
THROMBOCYTOPENIA 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Src SRC proto-oncogene, non-receptor tyrosine kinase ISO ClinVar Annotator: match by term: Thrombocytopenia 6 OMIM
ClinVar
PMID:26936507, PMID:32581362 NCBI chr 3:153,547,807...153,595,643
Ensembl chr 3:153,580,861...153,595,642
JBrowse link
thrombocytopenia due to platelet alloimmunization term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fcgr3a Fc fragment of IgG receptor IIIa treatment ISO DNA:SNP:cds: RGD PMID:22775462 RGD:11040770 NCBI chr13:89,385,775...89,396,047
Ensembl chr13:89,385,859...89,396,051
JBrowse link
Thrombocytopenia, Anemia, and Myelofibrosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mpig6b megakaryocyte and platelet inhibitory receptor G6b ISO ClinVar Annotator: match by term: THROMBOCYTOPENIA, ANEMIA, AND MYELOFIBROSIS
ClinVar Annotator: match by term: Thrombocytopenia, anemia, and myelofibrosis
ClinVar
OMIM
PMID:27743390 NCBI chr20:5,054,419...5,056,655
Ensembl chr20:5,054,583...5,056,488
JBrowse link
thrombocytopenia-absent radius syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankrd34a ankyrin repeat domain 34A ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr 2:198,720,277...198,725,155
Ensembl chr 2:198,721,724...198,725,154
JBrowse link
G Ankrd35 ankyrin repeat domain 35 ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr 2:198,797,136...198,817,144
Ensembl chr 2:198,797,159...198,817,146
JBrowse link
G Hjv hemojuvelin BMP co-receptor ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr 2:198,655,437...198,659,318
Ensembl chr 2:198,655,437...198,659,317
JBrowse link
G Itga10 integrin subunit alpha 10 ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr 2:198,772,937...198,792,253
Ensembl chr 2:198,772,937...198,792,253
JBrowse link
G Lix1l limb and CNS expressed 1 like ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr 2:198,726,110...198,751,987
Ensembl chr 2:198,726,118...198,751,985
JBrowse link
G Nudt17 nudix hydrolase 17 ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr 2:198,831,546...198,836,191
Ensembl chr 2:198,831,546...198,834,925
JBrowse link
G Pex11b peroxisomal biogenesis factor 11 beta ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr 2:198,762,138...198,771,040
Ensembl chr 2:198,762,138...198,771,026
JBrowse link
G Pias3 protein inhibitor of activated STAT, 3 ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr 2:198,821,377...198,831,533
Ensembl chr 2:198,823,366...198,836,372
JBrowse link
G Polr3c RNA polymerase III subunit C ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr 2:198,836,282...198,852,368
Ensembl chr 2:198,836,285...198,852,161
JBrowse link
G Polr3gl RNA polymerase III subunit GL ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr 2:198,698,044...198,719,609
Ensembl chr 2:198,702,587...198,719,202
JBrowse link
G Rbm8a RNA binding motif protein 8A ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:274000
OMIM
ClinVar
CTD
PMID:16501574, PMID:17236129, PMID:22366785, PMID:23754559, PMID:24033266, PMID:24053387, PMID:24220582, PMID:25741868, PMID:27320760, PMID:27846804, PMID:28492532, PMID:28857120, PMID:32227665 NCBI chr 2:198,755,261...198,758,028
Ensembl chr 2:198,755,262...198,758,028
JBrowse link
G Txnip thioredoxin interacting protein ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr 2:198,683,168...198,686,971
Ensembl chr 2:198,683,159...198,686,974
JBrowse link
Thrombocytopenic Purpura term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gp9 glycoprotein IX (platelet) ISO RGD PMID:23103637 RGD:11040532 NCBI chr 4:119,680,671...119,682,006
Ensembl chr 4:119,680,112...119,682,547
JBrowse link
G Itga2b integrin subunit alpha 2b ISO RGD PMID:11493456 RGD:2316362 NCBI chr10:90,397,960...90,416,550
Ensembl chr10:90,398,132...90,415,070
JBrowse link
G Itgb3 integrin subunit beta 3 ISO associated with HIV Infections RGD PMID:11493456, PMID:8565280 RGD:2316362, RGD:10755471 NCBI chr10:92,667,869...92,783,413
Ensembl chr10:92,667,869...92,783,410
JBrowse link
G Vwf von Willebrand factor ISO RGD PMID:14727254 RGD:1580644 NCBI chr 4:158,085,059...158,219,525
Ensembl chr 4:158,088,505...158,219,523
JBrowse link
Thrombotic Microangiopathies term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamts13 ADAM metallopeptidase with thrombospondin type 1 motif, 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14625834, PMID:16388419 NCBI chr 3:5,519,921...5,558,390
Ensembl chr 3:5,519,990...5,558,166
JBrowse link
G C3 complement C3 treatment IDA RGD PMID:11532096 RGD:5129554 NCBI chr 9:9,721,137...9,747,084
Ensembl chr 9:9,721,105...9,747,167
JBrowse link
G Cfh complement factor H ISO associated with Kidney Failure, Chronic;DNA:missense mutations:exon:p.N516K (c.1548T>A), p.Q950H (c.2850G>T), p.K1186H (c.3557A>C) (human) RGD PMID:18557729 RGD:11041165 NCBI chr13:56,979,155...57,080,540
Ensembl chr13:56,978,607...57,080,622
JBrowse link
G Cfi complement factor I ISO associated with Kidney Failure, Chronic;DNA:missense mutations, splice-site mutation:exon:multiple RGD PMID:18557729 RGD:11041165 NCBI chr 2:235,264,149...235,305,779
Ensembl chr 2:235,264,219...235,305,781
JBrowse link
G Cpb2 carboxypeptidase B2 ISO DNA:polymorphism: ;1542C>G(human) RGD PMID:17327284 RGD:7243121 NCBI chr15:57,290,849...57,339,762
Ensembl chr15:57,290,849...57,339,760
JBrowse link
G F3 coagulation factor III, tissue factor ISO RGD PMID:19535796 RGD:11341690 NCBI chr 2:225,310,686...225,322,281
Ensembl chr 2:225,310,624...225,322,272
JBrowse link
G Fgg fibrinogen gamma chain ISO RGD PMID:17038160 RGD:11352673 NCBI chr 2:181,987,080...181,994,523
Ensembl chr 2:181,987,217...181,994,514
JBrowse link
G Itgb3 integrin subunit beta 3 ISO associated with Chronic Allograft Dysfunction;protein:increased expression:arteriole RGD PMID:18234279 RGD:10755463 NCBI chr10:92,667,869...92,783,413
Ensembl chr10:92,667,869...92,783,410
JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility ISO DNA:transition:cds:g.677C>T (human) RGD PMID:19448163 RGD:6893633 NCBI chr 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
JBrowse link
G Nos2 nitric oxide synthase 2 IEP protein:Increased expression:kidney:neutrophil, endothelial cell, kidney: RGD PMID:10908153 RGD:11533936 NCBI chr10:66,188,290...66,221,621
Ensembl chr10:66,189,786...66,313,190
JBrowse link
G Nos3 nitric oxide synthase 3 IEP protein:decreased expression:kidney: RGD PMID:10908153 RGD:11533936 NCBI chr 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410
JBrowse link
G Vegfa vascular endothelial growth factor A ISO CTD Direct Evidence: marker/mechanism CTD PMID:22808199 NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
JBrowse link
G Vwf von Willebrand factor disease_progression ISO protein:increased expression:plasma RGD PMID:21153061, PMID:20439183 RGD:7205650, RGD:7207026 NCBI chr 4:158,085,059...158,219,525
Ensembl chr 4:158,088,505...158,219,523
JBrowse link
thrombotic thrombocytopenic purpura term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamts13 ADAM metallopeptidase with thrombospondin type 1 motif, 13 ISO ClinVar Annotator: match by term: Upshaw-Schulman syndrome
ClinVar Annotator: match by term: Thrombotic thrombocytopenic purpura
ClinVar Annotator: match by OMIM:274150
CTD Direct Evidence: marker/mechanism
Adult Onset Purpura, Thrombotic Thrombocytopenic;DNA:missense mutation:cds:p.R1060W (human)
DNA:mutations:multiple (human)
protein:decreased activity:plasma (human)
OMIM
ClinVar
CTD
PMID:6433703, PMID:7094941, PMID:11563771, PMID:11586351, PMID:12181489, PMID:12393505, PMID:12576319, PMID:12656756, PMID:12753286, PMID:14512317, PMID:14563640, PMID:14597993, PMID:15009458, PMID:15126318, PMID:15521921, PMID:15800115, PMID:16453338, PMID:16796708, PMID:16807643, PMID:17003922, PMID:17187257, PMID:17627784, PMID:18031293, PMID:18443791, PMID:18481107, PMID:18581589, PMID:18665921, PMID:19047683, PMID:19055667, PMID:19786614, PMID:19847791, PMID:20647566, PMID:20886194, PMID:21488199, PMID:21676167, PMID:21781265, PMID:22289888, PMID:22529288, PMID:22768050, PMID:23346910, PMID:23621748, PMID:23648131, PMID:23715102, PMID:23847193, PMID:24033266, PMID:24936513, PMID:25442981, PMID:25741868, PMID:25934476, PMID:26081109, PMID:26566785, PMID:27132698, PMID:27802307, PMID:28492532, PMID:30312976, PMID:30792199, PMID:31064749, PMID:31971692, PMID:18031293, PMID:11586351, PMID:16200209, PMID:9129011 RGD:10449043, RGD:1598736, RGD:10449037, RGD:10449028 NCBI chr 3:5,519,921...5,558,390
Ensembl chr 3:5,519,990...5,558,166
JBrowse link
G Cd36 CD36 molecule ISO RGD PMID:7529543 RGD:11041104 NCBI chr 4:14,150,309...14,191,498
Ensembl chr 4:14,001,761...14,249,749
JBrowse link
G F3 coagulation factor III, tissue factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:7740478 NCBI chr 2:225,310,686...225,322,281
Ensembl chr 2:225,310,624...225,322,272
JBrowse link
G Proc protein C, inactivator of coagulation factors Va and VIIIa ISO RGD PMID:10936861 RGD:11100014 NCBI chr18:24,918,402...24,928,822
Ensembl chr18:24,918,398...24,929,091
JBrowse link
G RT1-Bb RT1 class II, locus Bb ISO DNA:polymorphisms:cds:HLA-DQB1*0301 (human) RGD PMID:19922436 RGD:11041754 NCBI chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
JBrowse link
G Tfpi tissue factor pathway inhibitor treatment ISO CTD Direct Evidence: marker/mechanism CTD PMID:7740478, PMID:7740478 RGD:11340214 NCBI chr 3:71,852,738...71,902,127
Ensembl chr 3:71,852,744...71,893,618
JBrowse link
G Thbd thrombomodulin ISO CTD Direct Evidence: marker/mechanism CTD PMID:7740478 NCBI chr 3:142,748,673...142,752,325
Ensembl chr 3:142,748,674...142,752,325
JBrowse link
Thrombotic Thrombocytopenic Purpura, Acquired term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamts13 ADAM metallopeptidase with thrombospondin type 1 motif, 13 treatment ISO human protein in a rat model RGD PMID:9828246, PMID:26338302 RGD:10449039, RGD:10449097 NCBI chr 3:5,519,921...5,558,390
Ensembl chr 3:5,519,990...5,558,166
JBrowse link
G Vwf von Willebrand factor treatment ISO RGD PMID:26863353 RGD:11079195 NCBI chr 4:158,085,059...158,219,525
Ensembl chr 4:158,088,505...158,219,523
JBrowse link
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 OMIM:314050 OMIM
ClinVar
PMID:871527, PMID:2200364, PMID:3521939, PMID:10733494, PMID:12200364, PMID:14691578, PMID:15701726, PMID:17148589, PMID:17209061, PMID:17881640, PMID:19268002, PMID:23704091 NCBI chr  X:15,273,937...15,281,759
Ensembl chr  X:15,378,789...15,382,066
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 null ClinVar PMID:11877312 NCBI chr  X:15,155,246...15,164,099
Ensembl chr  X:15,155,230...15,164,105
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 OMIM:300367
ClinVar Annotator: match by term: GATA-1-related thrombocytopenia with dyserythropoiesis
ClinVar Annotator: match by term: GATA1-Related X-Linked Cytopenia
ClinVar Annotator: match by term: THROMBOCYTOPENIA, X-LINKED, WITH OR 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)
ClinVar
OMIM
PMID:8628290, PMID:10700180, PMID:11418466, PMID:11566888, PMID:11809723, PMID:15895080, PMID:15920471, PMID:16095949, PMID:16103636, PMID:16783379, PMID:17713552, PMID:17763153, PMID:18041654, PMID:22706301, PMID:23278136, PMID:23704091, PMID:24255919, PMID:24453067, PMID:24766296, PMID:24952648, PMID:25741868, PMID:28492532, PMID:31064749, PMID:32581362, PMID:11675338, PMID:11418466, PMID:10700180 RGD:10450749, RGD:10450743, RGD:10450740 NCBI chr  X:15,273,937...15,281,759
Ensembl chr  X:15,378,789...15,382,066
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      hematopoietic system disease 1646
        hemorrhagic disease 611
          blood platelet disease 292
            thrombocytopenia 219
              Acquired Pure Megakaryocytic Aplasia 0
              DK Phocomelia Syndrome 0
              Evans' syndrome + 1
              Forsythe-Wakeling Syndrome 0
              Gardner Morrisson Abbot Syndrome 0
              Giant Platelet Syndrome with Thrombocytopenia 0
              IVIC syndrome 1
              Jacobsen Syndrome + 68
              Kasabach-Merritt Syndrome + 2
              MYH-9 related disease + 1
              Neonatal Alloimmune Thrombocytopenia 2
              Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia + 2
              Rhizomelic Osteochondrodysplasia with Callosal Agenesis, Thrombocytopenia, Hydrocephalus, and Hypertension 0
              Spastic Paraplegia and Evans Syndrome 0
              THROMBOCYTOPENIA 5 1
              THROMBOCYTOPENIA 6 1
              Takenouchi-Kosaki Syndrome 1
              Tetraphocomelia-Thrombocytopenia Syndrome 0
              Thrombocytopenia 1 2
              Thrombocytopenia 2 2
              Thrombocytopenia 3 1
              Thrombocytopenia 4 1
              Thrombocytopenia Absent Ulnar Syndrome 0
              Thrombocytopenia Robin Sequence 0
              Thrombocytopenia with Elevated Serum Iga and Renal Disease 0
              Thrombocytopenia, Anemia, and Myelofibrosis 1
              Thrombocytopenia, Cyclic 0
              Thrombotic Microangiopathies + 70
              X-Linked Thrombocytopenia, Intermittent 1
              X-Linked Thrombocytopenia, with or without Dyserythropoietic Anemia 1
              X-linked thrombocytopenia with beta-thalassemia 1
              acquired thrombocytopenia + 10
              autosomal dominant macrothrombocytopenia TUBB1-related 1
              congenital amegakaryocytic thrombocytopenia 1
              congenital disorder of glycosylation Ix 1
              platelet-type bleeding disorder 15 2
              platelet-type bleeding disorder 17 1
              platelet-type bleeding disorder 9 2
              thrombocytopenia due to platelet alloimmunization + 3
              thrombocytopenia-absent radius syndrome 12
              transient neonatal thrombocytopenia 0
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      Hemic and Lymphatic Diseases 2053
        hematopoietic system disease 1646
          blood coagulation disease 624
            hemorrhagic disease 611
              blood platelet disease 292
                thrombocytopenia 219
                  Acquired Pure Megakaryocytic Aplasia 0
                  DK Phocomelia Syndrome 0
                  Evans' syndrome + 1
                  Forsythe-Wakeling Syndrome 0
                  Gardner Morrisson Abbot Syndrome 0
                  Giant Platelet Syndrome with Thrombocytopenia 0
                  IVIC syndrome 1
                  Jacobsen Syndrome + 68
                  Kasabach-Merritt Syndrome + 2
                  MYH-9 related disease + 1
                  Neonatal Alloimmune Thrombocytopenia 2
                  Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia + 2
                  Rhizomelic Osteochondrodysplasia with Callosal Agenesis, Thrombocytopenia, Hydrocephalus, and Hypertension 0
                  Spastic Paraplegia and Evans Syndrome 0
                  THROMBOCYTOPENIA 5 1
                  THROMBOCYTOPENIA 6 1
                  Takenouchi-Kosaki Syndrome 1
                  Tetraphocomelia-Thrombocytopenia Syndrome 0
                  Thrombocytopenia 1 2
                  Thrombocytopenia 2 2
                  Thrombocytopenia 3 1
                  Thrombocytopenia 4 1
                  Thrombocytopenia Absent Ulnar Syndrome 0
                  Thrombocytopenia Robin Sequence 0
                  Thrombocytopenia with Elevated Serum Iga and Renal Disease 0
                  Thrombocytopenia, Anemia, and Myelofibrosis 1
                  Thrombocytopenia, Cyclic 0
                  Thrombotic Microangiopathies + 70
                  X-Linked Thrombocytopenia, Intermittent 1
                  X-Linked Thrombocytopenia, with or without Dyserythropoietic Anemia 1
                  X-linked thrombocytopenia with beta-thalassemia 1
                  acquired thrombocytopenia + 10
                  autosomal dominant macrothrombocytopenia TUBB1-related 1
                  congenital amegakaryocytic thrombocytopenia 1
                  congenital disorder of glycosylation Ix 1
                  platelet-type bleeding disorder 15 2
                  platelet-type bleeding disorder 17 1
                  platelet-type bleeding disorder 9 2
                  thrombocytopenia due to platelet alloimmunization + 3
                  thrombocytopenia-absent radius syndrome 12
                  transient neonatal thrombocytopenia 0
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.