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: drug allergy
Accession: DOID:0060500
browse the term
Definition: An allergic disease that is triggered by a drug. (DO)
Synonyms: exact_synonym: Drug Allergies; Drug Hypersensitivities; Drug Hypersensitivity
primary_id: MESH:D004342
xref: EFO:0009482
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Abcc2
ATP binding cassette subfamily C member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20216337
NCBI chr 1:242,664,657...242,723,239
Ensembl chr 1:242,664,657...242,723,238
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Ace
angiotensin I converting enzyme
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18727619
NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
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Adora1
adenosine A1 receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19019667
NCBI chr13:45,658,872...45,695,821
Ensembl chr13:45,658,872...45,695,801
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Adora2a
adenosine A2a receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19019667
NCBI chr20:13,315,848...13,333,386
Ensembl chr20:13,315,853...13,333,386
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Ccl11
C-C motif chemokine ligand 11
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:14616128
NCBI chr10:67,028,328...67,032,929
Ensembl chr10:67,028,328...67,032,926
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Ccl24
C-C motif chemokine ligand 24
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:14616128
NCBI chr12:21,100,835...21,104,832
Ensembl chr12:21,100,835...21,104,893
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Cysltr1
cysteinyl leukotriene receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16630147
NCBI chr X:71,661,421...71,690,012
Ensembl chr X:71,663,821...71,690,121
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Cysltr2
cysteinyl leukotriene receptor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15970796
NCBI chr15:48,189,476...48,228,750
Ensembl chr15:48,189,073...48,304,136
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Faslg
Fas ligand
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19706026
NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215
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Fcer1a
Fc epsilon receptor Ia
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17125826 PMID:20485159
NCBI chr13:85,686,099...85,692,394
Ensembl chr13:85,686,092...85,692,351
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Fcer1g
Fc epsilon receptor Ig
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18534082 PMID:18595682
NCBI chr13:83,649,447...83,654,248
Ensembl chr13:83,649,449...83,671,443
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Gstm1
glutathione S-transferase mu 1
susceptibility
ISO
DNA:deletion: : CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:20485159 PMID:11007341
RGD:5491000
NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
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Gstp1
glutathione S-transferase pi 1
susceptibility
ISO
associated with Acquired Immunodeficiency Syndrome;DNA:polymorphism:exon:A>G313 (rs1695) (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:20485159 PMID:16297214
RGD:5490995
NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226
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Gstt1
glutathione S-transferase theta 1
susceptibility
ISO
DNA:deletion: :
RGD
PMID:11007341
RGD:5491000
NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585
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Gzmb
granzyme B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19706026
NCBI chr15:30,343,352...30,346,814
Ensembl chr15:30,173,603...30,346,814
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Hnmt
histamine N-methyltransferase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20485159
NCBI chr 3:6,591,804...6,623,821
Ensembl chr 3:6,591,463...6,624,012
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Hspa1a
heat shock protein family A (Hsp70) member 1A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16538175
NCBI chr20:3,870,765...3,873,221
Ensembl chr20:3,856,006...3,873,227
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Hspa1l
heat shock protein family A (Hsp70) member 1 like
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16538175
NCBI chr20:3,848,843...3,855,571
Ensembl chr20:3,848,843...3,855,571
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Il10
interleukin 10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19222424 PMID:20485159
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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Il13
interleukin 13
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20485159
NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737
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Il2
interleukin 2
ISO
RGD
PMID:1549655
RGD:8662975
NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
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Il4
interleukin 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15867870 PMID:20485159
NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
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Il4r
interleukin 4 receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20485159
NCBI chr 1:180,115,061...180,139,981
Ensembl chr 1:180,115,120...180,139,980
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Ltc4s
leukotriene C4 synthase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16433794
NCBI chr10:34,560,476...34,562,790
Ensembl chr10:34,560,360...34,562,651
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Mln
motilin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16538176
NCBI chr20:5,304,249...5,308,948
Ensembl chr20:5,304,249...5,308,948
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Ms4a2
membrane spanning 4-domains A2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16839402 PMID:18534082 PMID:20485159
NCBI chr 1:208,440,179...208,448,716
Ensembl chr 1:208,440,361...208,448,310
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Nat2
N-acetyltransferase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20485159 PMID:20602614 PMID:21572414
NCBI chr16:22,207,362...22,238,513
Ensembl chr16:22,208,194...22,238,520
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Nlrp3
NLR family, pyrin domain containing 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19767079
NCBI chr10:44,326,770...44,353,814
Ensembl chr10:44,328,566...44,352,811
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Postn
periostin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18391768
NCBI chr 2:138,527,714...138,559,098
Ensembl chr 2:138,527,696...138,559,099
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Ptger3
prostaglandin E receptor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20587336
NCBI chr 2:246,606,131...246,750,970
Ensembl chr 2:246,606,183...246,684,434
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Ptgs1
prostaglandin-endoperoxide synthase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17508966
NCBI chr 3:19,584,015...19,605,589
Ensembl chr 3:19,584,015...19,605,586
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RT1-Db1
RT1 class II, locus Db1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20485159
NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
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Tac1
tachykinin, precursor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21233199
NCBI chr 4:35,679,183...35,687,180
Ensembl chr 4:35,679,704...35,687,178
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Tbxas1
thromboxane A synthase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21449675
NCBI chr 4:67,664,963...67,837,096
Ensembl chr 4:67,665,007...67,837,096
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Tnf
tumor necrosis factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11294926 PMID:20485159
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Tnfrsf10b
TNF receptor superfamily member 10b
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19652058
NCBI chr15:44,840,386...44,868,318
Ensembl chr15:44,840,386...44,867,467
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Cacng6
calcium voltage-gated channel auxiliary subunit gamma 6
susceptibility
ISO
DNA:SNP,haplotype:rs192808(human)
RGD
PMID:20860846
RGD:13524562
NCBI chr 1:65,732,910...65,747,377
Ensembl chr 1:65,732,632...65,747,341
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Ccr3
C-C motif chemokine receptor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:20485159 PMID:20022477
RGD:4145619
NCBI chr 8:123,586,100...123,634,178
Ensembl chr 8:123,616,236...123,634,990
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Cysltr1
cysteinyl leukotriene receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16502481 PMID:17641958 PMID:20485159
NCBI chr X:71,661,421...71,690,012
Ensembl chr X:71,663,821...71,690,121
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Cysltr2
cysteinyl leukotriene receptor 2
ISO
DNA:SNPs: :-819T>G, 2078C>T, 2534A>G (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16502481 PMID:20485159 PMID:15970796
RGD:5144000
NCBI chr15:48,189,476...48,228,750
Ensembl chr15:48,189,073...48,304,136
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Fancc
FA complementation group C
ISO
DNA:haplotype::rs4647416(human)
RGD
PMID:21670957
RGD:11045795
NCBI chr17:1,680,660...1,822,610
Ensembl chr17:1,681,324...1,829,376
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Il4
interleukin 4
susceptibility
ISO
DNA:SNPs:promoter,5'UTR,intron:multiple
RGD
PMID:20921925
RGD:11528633
NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
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Ltc4s
leukotriene C4 synthase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9393345 PMID:9466979 PMID:10970818 PMID:20485159
NCBI chr10:34,560,476...34,562,790
Ensembl chr10:34,560,360...34,562,651
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Ms4a2
membrane spanning 4-domains A2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16502481
NCBI chr 1:208,440,179...208,448,716
Ensembl chr 1:208,440,361...208,448,310
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Postn
periostin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18391768
NCBI chr 2:138,527,714...138,559,098
Ensembl chr 2:138,527,696...138,559,099
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Ptgdr2
prostaglandin D2 receptor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20485159
NCBI chr 1:207,585,088...207,590,275
Ensembl chr 1:207,587,917...207,589,213
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Ptger2
prostaglandin E receptor 2
ISO
ClinVar Annotator: match by term: Asthma, aspirin-induced, susceptibility to CTD Direct Evidence: marker/mechanism
ClinVar CTD
PMID:15496426 PMID:16502481
NCBI chr15:18,215,013...18,228,714
Ensembl chr15:18,217,285...18,228,714
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Ptgir
prostaglandin I2 receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20485159
NCBI chr 1:77,579,596...77,581,979
Ensembl chr 1:77,579,596...77,581,979
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Ptgs2
prostaglandin-endoperoxide synthase 2
ISO
protein:increased expression:mast cell CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16502481 PMID:20485159 PMID:9487340
RGD:5143936
NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188
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RT1-Ba
RT1 class II, locus Ba
susceptibility
ISO
RGD
PMID:25975240
RGD:11074090
NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
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RT1-Bb
RT1 class II, locus Bb
susceptibility
ISO
RGD
PMID:25975240
RGD:11074090
NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
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RT1-Db1
RT1 class II, locus Db1
susceptibility
ISO
RGD
PMID:25975240
RGD:11074090
NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
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RT1-Hb-ps1
RT1 class II, locus Hb, pseudogene 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16502481
NCBI chr20:4,775,598...4,779,590
Ensembl chr20:4,774,650...4,780,618
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Tap2
transporter 2, ATP binding cassette subfamily B member
ISO
RGD
PMID:21796142
RGD:5147839
NCBI chr20:4,636,347...4,650,387
Ensembl chr20:4,636,357...4,650,407
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Tbx21
T-box transcription factor 21
ISO
ClinVar Annotator: match by term: Asthma, aspirin-induced, susceptibility to CTD Direct Evidence: marker/mechanism
ClinVar CTD
PMID:15806396 PMID:16502481
NCBI chr10:82,082,322...82,098,831
Ensembl chr10:82,082,322...82,098,831
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Tbxa2r
thromboxane A2 receptor
susceptibility
ISO
DNA:polymorphism: :795T>C (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16502481 PMID:20485159 PMID:15898979
RGD:11059537
NCBI chr 7:8,383,347...8,390,753
Ensembl chr 7:8,383,378...8,388,176
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Alox15
arachidonate 15-lipoxygenase
ISO
ClinVar Annotator: match by term: Asthma, nasal polyps, and aspirin intolerance
ClinVar
PMID:17959182 PMID:21558275 PMID:25741868 PMID:30643255
NCBI chr10:55,060,169...55,068,885
Ensembl chr10:55,060,412...55,068,874
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Ltc4s
leukotriene C4 synthase
ISO
ClinVar Annotator: match by term: Asthma, nasal polyps, and aspirin intolerance
ClinVar
PMID:25741868
NCBI chr10:34,560,476...34,562,790
Ensembl chr10:34,560,360...34,562,651
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Ptger2
prostaglandin E receptor 2
susceptibility
ISO
CTD Direct Evidence: marker/mechanism
OMIM CTD
NCBI chr15:18,215,013...18,228,714
Ensembl chr15:18,217,285...18,228,714
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Tbx21
T-box transcription factor 21
ISO
ClinVar Annotator: match by term: Asthma, nasal polyps, and aspirin intolerance CTD Direct Evidence: marker/mechanism
ClinVar OMIM CTD
PMID:25741868
NCBI chr10:82,082,322...82,098,831
Ensembl chr10:82,082,322...82,098,831
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Alox5
arachidonate 5-lipoxygenase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16502481
NCBI chr 4:149,531,329...149,578,696
Ensembl chr 4:149,531,515...149,578,743
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Apoa1
apolipoprotein A1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21055120
NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035
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Apoc2
apolipoprotein C2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21055120
NCBI chr 1:79,329,429...79,334,397
Ensembl chr 1:79,329,428...79,334,476
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Apoc3
apolipoprotein C3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21055120
NCBI chr 8:46,531,478...46,533,658
Ensembl chr 8:46,531,478...46,533,583
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Bdnf
brain-derived neurotrophic factor
ISO
mRNA:increased expression:lymph node, ear:
RGD
PMID:19904815
RGD:8657071
NCBI chr 3:96,165,042...96,215,621
Ensembl chr 3:96,165,042...96,215,615
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C4b
complement C4B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21055120
NCBI chr20:4,197,371...4,211,684
Ensembl chr20:4,197,366...4,211,681
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Cyp1a1
cytochrome P450, family 1, subfamily a, polypeptide 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19351467
NCBI chr 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125
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Cyp2c6
cytochrome P450, family 2, subfamily C, polypeptide 6
susceptibility treatment
ISO
DNA:SNP: :Rs4244285(human) associated with tuberculosis; DNA.polymorphism, haplotype:cds:p.W212X (human)
RGD
PMID:23551241 PMID:20941486
RGD:11352742 , RGD:124713543
NCBI chr 1:237,938,521...237,976,238
Ensembl chr 1:237,693,094...238,057,596
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Cyp2e1
cytochrome P450, family 2, subfamily e, polypeptide 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19351467
NCBI chr 1:195,840,330...195,850,728
Ensembl chr 1:195,840,058...195,864,023
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Fcer1a
Fc epsilon receptor Ia
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16502481
NCBI chr13:85,686,099...85,692,394
Ensembl chr13:85,686,092...85,692,351
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Ifng
interferon gamma
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31150805
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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Il17a
interleukin 17A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31150805
NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889
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Il18
interleukin 18
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18204966
NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
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Il2
interleukin 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31150805
NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
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Il4
interleukin 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19351467
NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
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Kng1
kininogen 1
ISO
CTD Direct Evidence: marker/mechanism|therapeutic
CTD
PMID:1371395 PMID:3034372
NCBI chr11:77,812,757...77,835,555
Ensembl chr11:77,812,752...77,835,555
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Mpo
myeloperoxidase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18204966
NCBI chr10:72,594,883...72,608,862
Ensembl chr10:72,594,661...72,604,819
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Mthfr
methylenetetrahydrofolate reductase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:14723717
NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
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Rela
RELA proto-oncogene, NF-kB subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31150805
NCBI chr 1:202,925,001...202,935,484
Ensembl chr 1:202,924,945...202,935,484
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RT1-Ba
RT1 class II, locus Ba
susceptibility
ISO
DNA:polymorphisms:exon:
RGD
PMID:16836882
RGD:8547665
NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
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RT1-Bb
RT1 class II, locus Bb
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16502481
NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
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RT1-Hb-ps1
RT1 class II, locus Hb, pseudogene 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16502481
NCBI chr20:4,775,598...4,779,590
Ensembl chr20:4,774,650...4,780,618
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Tac1
tachykinin, precursor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:1371395
NCBI chr 4:35,679,183...35,687,180
Ensembl chr 4:35,679,704...35,687,178
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Tnf
tumor necrosis factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31150805
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Ttr
transthyretin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21055120
NCBI chr18:11,941,791...11,951,008
Ensembl chr18:11,943,789...11,951,008
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C1qa
complement C1q A chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34142820
NCBI chr 5:149,133,635...149,136,482
Ensembl chr 5:149,133,636...149,136,534
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C1qb
complement C1q B chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34142820
NCBI chr 5:149,118,843...149,124,394
Ensembl chr 5:149,118,846...149,124,407
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C1qc
complement C1q C chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34142820
NCBI chr 5:149,127,412...149,130,757
Ensembl chr 5:149,127,415...149,131,017
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Cfhr1
complement factor H-related 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34142820
NCBI chr13:51,395,583...51,410,571
Ensembl chr13:51,369,211...51,410,592
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Crp
C-reactive protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34142820
NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178
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Hspa1l
heat shock protein family A (Hsp70) member 1 like
ISO
DNA:polymorphism, haplotype: :p.M493T (human)
RGD
PMID:15024131
RGD:8662461
NCBI chr20:3,848,843...3,855,571
Ensembl chr20:3,848,843...3,855,571
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Il1b
interleukin 1 beta
ISO
DNA:SNP:promoter:-511C>T (rs 16944) (human)
RGD
PMID:23461376
RGD:11051970
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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Il1rn
interleukin 1 receptor antagonist
ISO
DNA:SNP:intron:rs2234663 (human)
RGD
PMID:23461376
RGD:11051970
NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
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Lbp
lipopolysaccharide binding protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34142820
NCBI chr 3:146,953,889...146,981,032
Ensembl chr 3:146,954,015...146,981,586
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Lrg1
leucine-rich alpha-2-glycoprotein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34142820
NCBI chr 9:947,516...949,773
Ensembl chr 9:947,516...949,813
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Orm1
orosomucoid 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34142820
NCBI chr 5:76,766,637...76,776,149
Ensembl chr 5:76,772,941...76,776,154
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Vwf
von Willebrand factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34142820
NCBI chr 4:158,360,152...158,491,539
Ensembl chr 4:158,360,152...158,491,539
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C3
complement C3
ISO
associated with Leprosy
RGD
PMID:2783924
RGD:7421527
NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429
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Cfb
complement factor B
ISO
associated with Leprosy
RGD
PMID:2783924
RGD:7421527
NCBI chr20:3,970,643...3,976,510
Ensembl chr20:3,951,474...3,976,505
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Gstm1
glutathione S-transferase mu 1
susceptibility
ISO
associated with Behcet Syndrome;DNA:deletion:: (human)
RGD
PMID:22766250
RGD:7794848
NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
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Lta
lymphotoxin alpha
ISO
associated with Sarcoidosis;DNA:polymorphism:intron
RGD
PMID:19225544
RGD:8548773
NCBI chr20:3,618,853...3,621,324
Ensembl chr20:3,618,853...3,620,859
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RT1-CE13
RT1 class I, locus CE13
ISO
associated with Inflammatory Bowel Diseases; DNA:polymorphisms:cds:multiple (human)
RGD
PMID:12198697
RGD:7364926
NCBI chr20:3,314,830...3,318,106
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Tnf
tumor necrosis factor
susceptibility
ISO
associated with Inflammatory Bowel Diseases;DNA:polymorphisms: :-1031T>C(human)
RGD
PMID:12198697
RGD:7364926
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Vdr
vitamin D receptor
susceptibility
ISO
associated with Behcet Syndrome;DNA:polymorphism: : rs7975232(human)
RGD
PMID:24880677
RGD:13217417
NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677
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Kdr
kinase insert domain receptor
treatment
ISO
DNA:polymorphism:cds:p.H472Q(human)
RGD
PMID:20630084
RGD:8552374
NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018
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Psmb8
proteasome 20S subunit beta 8
ISO
ClinVar Annotator: match by term: Nodular erythema digital changes
ClinVar
PMID:20159315 PMID:20534754 PMID:21129723 PMID:21953331 PMID:25741868 PMID:26524591 PMID:28492532 More...
NCBI chr20:4,652,159...4,655,122
Ensembl chr20:4,652,159...4,655,283
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Tpmt
thiopurine S-methyltransferase
ISO ISS
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Thiopurine S-methyltransferase deficiency OMIM:610460
CTD ClinVar MouseDO
PMID:1960624 PMID:7862671 PMID:8561894 PMID:8644731 PMID:9177237 PMID:9246020 PMID:9931345 PMID:9931346 PMID:10208641 PMID:10751626 PMID:15819814 PMID:16476125 PMID:17885628 PMID:25741868 More...
NCBI chr17:17,644,088...17,662,709
Ensembl chr17:17,644,173...17,662,709
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Tpmt
thiopurine S-methyltransferase
ISO
ClinVar Annotator: match by term: THIOPURINES, POOR METABOLISM OF, 1
OMIM ClinVar
PMID:8561894 PMID:9931345 PMID:25741868
NCBI chr17:17,644,088...17,662,709
Ensembl chr17:17,644,173...17,662,709
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Nudt15
nudix hydrolase 15
ISO
ClinVar Annotator: match by term: Thiopurines, poor metabolism of, 2
OMIM ClinVar
PMID:22992668 PMID:25108385 PMID:25624441 PMID:26033531 PMID:26076924 PMID:26405151 PMID:26503813 PMID:26590936 PMID:26735160 PMID:26878724 PMID:27095468 PMID:27193222 PMID:27416873 PMID:27558924 PMID:27577869 PMID:27604507 PMID:28088792 PMID:28146264 PMID:28418010 PMID:28445187 PMID:28659275 PMID:29702976 PMID:29704867 PMID:29720126 PMID:29867468 PMID:29923122 PMID:29967377 PMID:30035323 PMID:30048756 PMID:30101994 PMID:30728528 PMID:31024313 More...
NCBI chr15:48,707,776...48,713,847
Ensembl chr15:48,709,700...48,747,363
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Alb
albumin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:350256 PMID:9380243
NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836
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Alb
albumin
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:12239465
NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836
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Apcs
amyloid P component, serum
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34142820
NCBI chr13:85,373,219...85,374,195
Ensembl chr13:85,373,220...85,374,298
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C1qa
complement C1q A chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34142820
NCBI chr 5:149,133,635...149,136,482
Ensembl chr 5:149,133,636...149,136,534
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C1qc
complement C1q C chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34142820
NCBI chr 5:149,127,412...149,130,757
Ensembl chr 5:149,127,415...149,131,017
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Cav1
caveolin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25811541
NCBI chr 4:45,640,624...45,673,708
Ensembl chr 4:45,634,918...45,673,705
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Celf2
CUGBP, Elav-like family member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25811541
NCBI chr17:70,904,462...71,729,072
Ensembl chr17:71,210,853...71,728,333
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Cfhr1
complement factor H-related 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34142820
NCBI chr13:51,395,583...51,410,571
Ensembl chr13:51,369,211...51,410,592
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Cfp
complement factor properdin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34142820
NCBI chr X:1,162,014...1,167,576
Ensembl chr X:1,161,979...1,167,573
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Clu
clusterin
ISO
mRNA:decreased expression:conjunctiva
RGD
PMID:12036968
RGD:8699507
NCBI chr15:40,161,068...40,200,315
Ensembl chr15:40,174,617...40,200,315
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Cops5
COP9 signalosome subunit 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25811541
NCBI chr 5:9,192,233...9,210,498
Ensembl chr 5:9,192,100...9,210,731
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Crp
C-reactive protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34142820
NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178
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Csf3
colony stimulating factor 3
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:11321886
NCBI chr10:83,660,787...83,664,569
Ensembl chr10:83,661,207...83,663,603
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Ctnnb1
catenin beta 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25811541
NCBI chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111
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Cul1
cullin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25811541
NCBI chr 4:76,551,952...76,625,830
Ensembl chr 4:76,551,983...76,627,980
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Cul4a
cullin 4A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25811541
NCBI chr16:76,385,298...76,422,316
Ensembl chr16:76,384,546...76,422,330
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Derl1
derlin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25811541
NCBI chr 7:89,404,413...89,427,095
Ensembl chr 7:89,404,417...89,427,145
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Elmo1
engulfment and cell motility 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25811541
NCBI chr17:44,286,495...44,822,668
Ensembl chr17:44,286,485...44,822,788
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Ep300
E1A binding protein p300
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25811541
NCBI chr 7:113,108,476...113,178,529
Ensembl chr 7:113,106,247...113,136,088 Ensembl chr 7:113,106,247...113,136,088
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Fbxo6
F-box protein 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25811541
NCBI chr 5:158,576,729...158,582,520
Ensembl chr 5:158,576,759...158,582,525
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Gstm1
glutathione S-transferase mu 1
ISO
RGD
PMID:28689274
RGD:14700974
NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
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Ifng
interferon gamma
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25811541
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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Lbp
lipopolysaccharide binding protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34142820
NCBI chr 3:146,953,889...146,981,032
Ensembl chr 3:146,954,015...146,981,586
G
Lrg1
leucine-rich alpha-2-glycoprotein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34142820
NCBI chr 9:947,516...949,773
Ensembl chr 9:947,516...949,813
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Mif
macrophage migration inhibitory factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9372356
NCBI chr20:12,790,919...12,791,784
Ensembl chr20:12,790,902...12,799,504 Ensembl chr 4:12,790,902...12,799,504
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Mir18a
microRNA 18a
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34142820
NCBI chr15:92,180,765...92,180,860
Ensembl chr15:92,180,765...92,180,860
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Nedd4
NEDD4 E3 ubiquitin protein ligase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25811541
NCBI chr 8:73,384,095...73,468,951
Ensembl chr 8:73,383,695...73,468,951
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Nfkbiz
NFKB inhibitor zeta
ISS
MouseDO
NCBI chr11:44,782,676...44,810,722
Ensembl chr11:44,782,676...44,810,723
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Nos2
nitric oxide synthase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10620138
NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
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Nucb1
nucleobindin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25811541
NCBI chr 1:95,968,325...95,999,183
Ensembl chr 1:95,968,326...96,003,220
G
Orm1
orosomucoid 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34142820
NCBI chr 5:76,766,637...76,776,149
Ensembl chr 5:76,772,941...76,776,154
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Parp1
poly (ADP-ribose) polymerase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25811541
NCBI chr13:92,307,593...92,339,406
Ensembl chr13:92,307,586...92,339,404
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Pml
PML nuclear body scaffold
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25811541
NCBI chr 8:58,627,347...58,661,927
Ensembl chr 8:58,628,837...58,658,971
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Pros1
protein S
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34142820
NCBI chr11:230,597...311,288
Ensembl chr11:230,696...311,286
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Psmc5
proteasome 26S subunit, ATPase 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25811541
NCBI chr10:91,187,763...91,193,697
Ensembl chr10:91,187,743...91,213,135
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Ptger3
prostaglandin E receptor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21966456
NCBI chr 2:246,606,131...246,750,970
Ensembl chr 2:246,606,183...246,684,434
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Ptgis
prostaglandin I2 synthase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25811541
NCBI chr 3:155,928,564...155,964,228
Ensembl chr 3:155,916,412...155,965,451
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Rb1
RB transcriptional corepressor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25811541
NCBI chr15:48,371,295...48,502,473
Ensembl chr15:48,371,296...48,502,302
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Rbx1
ring-box 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25811541
NCBI chr 7:112,976,863...113,001,051
Ensembl chr 7:112,990,835...113,001,051
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RT1-Bb
RT1 class II, locus Bb
susceptibility
ISO
DNA:polymorphism:cds:HLA-DQB1*0601 (human)
RGD
PMID:8841298
RGD:7483570
NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
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RT1-CE13
RT1 class I, locus CE13
susceptibility
ISO
DNA:polymorphisms:cds:HLA-B*5801 (human, Japanese) DNA:polymorphisms:cds:HLA-B*15:02, HLA-B*40:01, HLA-B*58:02 (human)
RGD
PMID:19018717 PMID:23692434
RGD:7364874 , RGD:7365090
NCBI chr20:3,314,830...3,318,106
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RT1-CE16
RT1 class I, locus CE16
susceptibility
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hypersensitivity syndrome, carbamazepine-induced, susceptibility to
CTD OMIM ClinVar
PMID:16538176 PMID:21428769 PMID:23588310
NCBI chr20:3,257,109...3,260,747
Ensembl chr20:3,257,123...3,279,563
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Tnf
tumor necrosis factor
ISO
protein:increased expression:blister:
RGD
PMID:9852250
RGD:7401184
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Vcp
valosin-containing protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25811541
NCBI chr 5:57,210,167...57,229,571
Ensembl chr 5:57,210,168...57,229,571
G
Vwf
von Willebrand factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34142820
NCBI chr 4:158,360,152...158,491,539
Ensembl chr 4:158,360,152...158,491,539
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all