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 chr14:110,955,698...111,038,898
Ensembl chr14:110,955,633...111,037,537
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ACE
angiotensin I converting enzyme (peptidyl-dipeptidase A) 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18727619
NCBI chr12:15,394,487...15,414,609
Ensembl chr12:15,394,487...15,414,703
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ADORA1
adenosine A1 receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19019667
NCBI chr 9:113,835,279...113,875,899
Ensembl chr 9:113,835,921...113,872,365
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ADORA2A
adenosine A2a receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19019667
NCBI chr14:49,467,186...49,485,845
Ensembl chr14:49,468,877...49,485,850
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CCL11
chemokine (C-C motif) ligand 11
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:14616128
NCBI chr12:40,779,906...40,782,862
Ensembl chr12:40,779,173...40,782,893
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CCL24
C-C motif chemokine ligand 24
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:14616128
NCBI chr 3:10,347,397...10,361,500
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CYSLTR1
cysteinyl leukotriene receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16630147
NCBI chr X:62,380,778...62,407,736
Ensembl chr X:62,380,780...62,456,689
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CYSLTR2
cysteinyl leukotriene receptor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15970796
NCBI chr11:18,988,665...19,011,015
Ensembl chr11:18,987,174...19,011,015
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FASLG
Fas ligand
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19706026
NCBI chr 9:115,068,314...115,075,147
Ensembl chr 9:115,068,090...115,076,464
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FCER1A
Fc epsilon receptor Ia
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17125826 PMID:20485159
NCBI chr 4:91,118,867...91,125,448
Ensembl chr 4:91,118,879...91,125,437
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FCER1G
Fc epsilon receptor Ig
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18534082 PMID:18595682
NCBI chr 4:89,242,467...89,246,344
Ensembl chr 4:89,242,472...89,246,450
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GZMB
granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1)
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19706026
NCBI chr 7:74,705,499...74,708,781
Ensembl chr 7:74,705,409...74,708,790
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HNMT
histamine N-methyltransferase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20485159
NCBI chr15:13,733,412...13,768,106
Ensembl chr15:13,732,680...13,768,199
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HSPA1L
heat shock protein family A (Hsp70) member 1 like
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16538175
NCBI chr 7:23,909,960...23,938,678
Ensembl chr 7:23,909,960...23,914,629
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IL10
interleukin 10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19222424 PMID:20485159
NCBI chr 9:67,400,727...67,405,941
Ensembl chr 9:67,400,728...67,405,378
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IL13
interleukin 13
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20485159
NCBI chr 2:134,972,099...134,976,672
Ensembl chr 2:134,972,623...134,975,093
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IL2
interleukin 2
ISO
RGD
PMID:1549655
RGD:8662975
NCBI chr 8:101,640,938...101,645,683
Ensembl chr 8:101,640,944...101,645,609
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IL4
interleukin 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15867870 PMID:20485159
NCBI chr 2:134,986,817...134,994,365
Ensembl chr 2:134,986,817...134,994,365
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IL4R
interleukin 4 receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20485159
NCBI chr 3:19,526,343...19,576,792
Ensembl chr 3:19,523,564...19,576,544
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LOC100737977
tumor necrosis factor receptor superfamily member 10B-like
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19652058
NCBI chr14:7,344,788...7,371,086
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LOC100739508
glutathione S-transferase P-like
susceptibility
ISO
associated with Acquired Immunodeficiency Syndrome;DNA:polymorphism:exon:A>G313 (rs1695) (human) CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:16297214 PMID:20485159
RGD:5490995
NCBI chr 2:5,005,498...5,009,247
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LTC4S
leukotriene C4 synthase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16433794
NCBI chr 2:78,799,446...78,802,281
Ensembl chr 2:78,799,449...78,802,285
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MLN
motilin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16538176
NCBI chr 7:30,003,501...30,013,064
Ensembl chr 7:30,003,526...30,013,064
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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 2:11,400,415...11,420,314
Ensembl chr 2:11,400,420...11,420,298
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NLRP3
NLR family pyrin domain containing 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19767079
NCBI chr 2:56,892,241...56,977,412
Ensembl chr 2:56,892,243...56,977,228
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POSTN
periostin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18391768
NCBI chr11:13,225,183...13,258,973
Ensembl chr11:13,224,959...13,258,978
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PTGER3
prostaglandin E receptor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20587336
NCBI chr 6:141,958,955...142,160,437
Ensembl chr 6:141,958,955...142,161,286
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PTGS1
prostaglandin-endoperoxide synthase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17508966
NCBI chr 1:262,456,106...262,482,159
Ensembl chr 1:262,456,155...262,483,035
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TAC1
tachykinin precursor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21233199
NCBI chr 9:77,197,403...77,206,529
Ensembl chr 9:77,197,536...77,206,523
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TBXAS1
thromboxane A synthase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21449675
NCBI chr18:9,717,291...9,886,699
Ensembl chr18:9,717,294...9,886,681
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TNF
tumor necrosis factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11294926 PMID:20485159
NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,416
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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 6:56,123,598...56,151,145
Ensembl chr 6:56,129,834...56,151,133
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CCR2
C-C motif chemokine receptor 2
ISO
CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:20022477 PMID:20485159
RGD:4145619
NCBI chr13:29,251,950...29,286,470
Ensembl chr13:29,285,012...29,376,343
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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:62,380,778...62,407,736
Ensembl chr X:62,380,780...62,456,689
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CYSLTR2
cysteinyl leukotriene receptor 2
ISO
CTD Direct Evidence: marker/mechanism DNA:SNPs: :-819T>G, 2078C>T, 2534A>G (human)
CTD RGD
PMID:15970796 PMID:16502481 PMID:20485159
RGD:5144000
NCBI chr11:18,988,665...19,011,015
Ensembl chr11:18,987,174...19,011,015
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FANCC
FA complementation group C
ISO
DNA:haplotype::rs4647416(human)
RGD
PMID:21670957
RGD:11045795
NCBI chr10:26,796,546...27,055,271
Ensembl chr10:26,796,572...27,061,801
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IL4
interleukin 4
susceptibility
ISO
DNA:SNPs:promoter,5'UTR,intron:multiple
RGD
PMID:20921925
RGD:11528633
NCBI chr 2:134,986,817...134,994,365
Ensembl chr 2:134,986,817...134,994,365
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LTC4S
leukotriene C4 synthase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9393345 PMID:9466979 PMID:10970818 PMID:20485159
NCBI chr 2:78,799,446...78,802,281
Ensembl chr 2:78,799,449...78,802,285
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MS4A2
membrane spanning 4-domains A2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16502481
NCBI chr 2:11,400,415...11,420,314
Ensembl chr 2:11,400,420...11,420,298
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POSTN
periostin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18391768
NCBI chr11:13,225,183...13,258,973
Ensembl chr11:13,224,959...13,258,978
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PTGDR2
prostaglandin D2 receptor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20485159
NCBI chr 2:10,891,280...10,897,194
Ensembl chr 2:10,892,011...10,903,017
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PTGER2
prostaglandin E receptor 2
ISO
ClinVar Annotator: match by term: Asthma, aspirin-induced, susceptibility to
ClinVar
PMID:15496426
NCBI chr 1:181,993,961...182,009,959
Ensembl chr 1:181,994,560...182,009,953
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PTGIR
prostaglandin I2 receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20485159
NCBI chr 6:52,522,639...52,527,338
Ensembl chr 6:52,522,638...52,527,345
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PTGS2
prostaglandin-endoperoxide synthase 2
ISO
protein:increased expression:mast cell CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:9487340 PMID:16502481 PMID:20485159
RGD:5143936
NCBI chr 9:127,850,164...127,858,866
Ensembl chr 9:127,850,015...127,858,884
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TAP2
transporter 2, ATP binding cassette subfamily B member
ISO
RGD
PMID:21796142
RGD:5147839
NCBI chr 7:25,045,085...25,056,915
Ensembl chr 7:25,045,685...25,056,300
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TBX21
T-box transcription factor 21
ISO
ClinVar Annotator: match by term: Asthma, aspirin-induced, susceptibility to
ClinVar
PMID:15806396
NCBI chr12:23,996,415...24,009,353
Ensembl chr12:23,996,415...24,009,355
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TBXA2R
thromboxane A2 receptor
susceptibility
ISO
DNA:polymorphism: :795T>C (human) CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:15898979 PMID:16502481 PMID:20485159
RGD:11059537
NCBI chr 2:75,068,413...75,081,305
Ensembl chr 2:75,068,698...75,087,731
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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:30643255
NCBI chr12:52,287,174...52,295,873
Ensembl chr12:52,287,160...52,295,871
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PTGER2
prostaglandin E receptor 2
susceptibility
ISO
CTD Direct Evidence: marker/mechanism
OMIM CTD
NCBI chr 1:181,993,961...182,009,959
Ensembl chr 1:181,994,560...182,009,953
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TBX21
T-box transcription factor 21
susceptibility
ISO
ClinVar Annotator: match by term: Asthma, nasal polyps, and aspirin intolerance
ClinVar OMIM
PMID:25741868
NCBI chr12:23,996,415...24,009,353
Ensembl chr12:23,996,415...24,009,355
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ALOX5
arachidonate 5-lipoxygenase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16502481
NCBI chr14:90,859,209...90,907,084
Ensembl chr14:90,859,016...90,907,094
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APOA1
apolipoprotein A1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21055120
NCBI chr 9:44,216,481...44,218,360
Ensembl chr 9:44,216,392...44,218,713
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APOC2
apolipoprotein C2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21055120
NCBI chr 6:51,404,219...51,406,302
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APOC3
apolipoprotein C3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21055120
NCBI chr 9:44,211,171...44,213,538
Ensembl chr 9:44,211,194...44,213,533
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BDNF
brain derived neurotrophic factor
ISO
mRNA:increased expression:lymph node, ear:
RGD
PMID:19904815
RGD:8657071
NCBI chr 2:32,623,668...32,679,293
Ensembl chr 2:32,624,048...32,679,765
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C4A
complement C4A (Rodgers blood group)
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21055120
NCBI chr 7:24,068,019...24,083,060
Ensembl chr 7:24,068,019...24,083,061
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CYP1A1
cytochrome P450 family 1 subfamily A member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19351467
NCBI chr 7:58,802,887...58,809,155
Ensembl chr 7:58,802,887...58,809,775
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CYP2C49
cytochrome P450 2C49
susceptibility treatment
ISO
DNA:SNP: :Rs4244285(human) associated with tuberculosis; DNA.polymorphism, haplotype:cds:p.W212X (human)
RGD
PMID:20941486 PMID:23551241
RGD:11352742 RGD:124713543
NCBI chr14:106,571,803...106,612,082
Ensembl chr14:106,285,173...106,612,455
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CYP2E1
cytochrome P450 family 2 subfamily E member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19351467
NCBI chr14:141,690,737...141,703,078
Ensembl chr14:141,690,426...141,736,817
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FCER1A
Fc epsilon receptor Ia
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16502481
NCBI chr 4:91,118,867...91,125,448
Ensembl chr 4:91,118,879...91,125,437
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IFNG
interferon gamma
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31150805
NCBI chr 5:32,477,906...32,482,670
Ensembl chr 5:32,477,906...32,482,670
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IL17A
interleukin 17A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31150805
NCBI chr 7:46,013,584...46,017,161
Ensembl chr 7:46,013,584...46,017,153
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IL18
interleukin 18
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18204966
NCBI chr 9:39,839,959...39,861,258
Ensembl chr 9:39,834,973...39,861,219
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IL2
interleukin 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31150805
NCBI chr 8:101,640,938...101,645,683
Ensembl chr 8:101,640,944...101,645,609
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IL4
interleukin 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19351467
NCBI chr 2:134,986,817...134,994,365
Ensembl chr 2:134,986,817...134,994,365
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KNG1
kininogen 1
ISO
CTD Direct Evidence: marker/mechanism|therapeutic
CTD
PMID:1371395 PMID:3034372
NCBI chr13:124,521,276...124,557,384
Ensembl chr13:124,521,340...124,557,958
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MPO
myeloperoxidase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18204966
NCBI chr12:34,557,031...34,570,091
Ensembl chr12:34,556,408...34,567,904
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MTHFR
methylenetetrahydrofolate reductase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:14723717
NCBI chr 6:71,863,637...71,882,118
Ensembl chr 6:71,863,637...71,881,820
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RELA
RELA proto-oncogene, NF-kB subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31150805
NCBI chr 2:6,594,869...6,602,684
Ensembl chr 2:6,593,969...6,603,469
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TAC1
tachykinin precursor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:1371395
NCBI chr 9:77,197,403...77,206,529
Ensembl chr 9:77,197,536...77,206,523
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TNF
tumor necrosis factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31150805
NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,416
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TTR
transthyretin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21055120
NCBI chr 6:115,496,338...115,503,974
Ensembl chr 6:115,496,326...115,503,977
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C1QA
complement C1q A chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34142820
NCBI chr 6:80,586,259...80,589,213
Ensembl chr 6:80,586,280...80,589,204
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C1QB
complement C1q B chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34142820
NCBI chr 6:80,601,680...80,606,076
Ensembl chr 6:80,601,665...80,607,471
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C1QC
complement C1q C chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34142820
NCBI chr 6:80,592,591...80,597,464
Ensembl chr 6:80,592,473...80,597,452
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CRP
C-reactive protein, pentraxin-related
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34142820
NCBI chr 4:90,793,361...90,801,020
Ensembl chr 4:90,793,350...90,805,218
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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 chr 7:23,909,960...23,938,678
Ensembl chr 7:23,909,960...23,914,629
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IL1RN
interleukin 1 receptor antagonist
ISO
DNA:SNP:intron:rs2234663 (human)
RGD
PMID:23461376
RGD:11051970
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LBP
lipopolysaccharide binding protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34142820
NCBI chr17:41,398,935...41,429,467
Ensembl chr17:41,393,818...41,429,551
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LOC110258578
interleukin-1 beta-like
ISO
DNA:SNP:promoter:-511C>T (rs 16944) (human)
RGD
PMID:23461376
RGD:11051970
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LRG1
leucine rich alpha-2-glycoprotein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34142820
NCBI chr 2:74,300,598...74,303,117
Ensembl chr 2:74,300,619...74,314,315
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ORM1
orosomucoid 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34142820
NCBI chr 1:254,939,154...254,943,065
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VWF
von Willebrand factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34142820
NCBI chr 5:64,516,627...64,655,938
Ensembl chr 5:64,519,186...65,002,452
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C3
complement C3
ISO
associated with Leprosy
RGD
PMID:2783924
RGD:7421527
NCBI chr 2:72,431,470...72,471,622
Ensembl chr 2:72,431,212...72,472,228
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CFB
complement factor B
ISO
associated with Leprosy
RGD
PMID:2783924
RGD:7421527
NCBI chr 7:24,034,077...24,040,523
Ensembl chr 7:24,033,740...24,041,179
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LTA
lymphotoxin alpha
ISO
associated with Sarcoidosis;DNA:polymorphism:intron
RGD
PMID:19225544
RGD:8548773
NCBI chr 7:23,696,387...23,698,280
Ensembl chr 7:23,696,040...23,698,299
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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 chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,416
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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 5:78,205,807...78,266,505
Ensembl chr 5:78,205,810...78,266,475
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KDR
kinase insert domain receptor
treatment
ISO
DNA:polymorphism:cds:p.H472Q(human)
RGD
PMID:20630084
RGD:8552374
NCBI chr 8:41,809,116...41,856,379
Ensembl chr 8:41,809,122...41,856,336
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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 chr 7:25,058,456...25,061,666
Ensembl chr 7:25,058,465...25,062,245
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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 chr 7:13,821,656...13,846,107
Ensembl chr 7:13,820,866...13,846,012
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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:25741868 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 chr11:19,572,963...19,584,565
Ensembl chr11:19,572,644...19,584,528
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ALB
albumin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:350256 PMID:9380243
NCBI chr 8:69,643,427...69,663,152
Ensembl chr 8:69,531,487...69,721,696
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ALB
albumin
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:12239465
NCBI chr 8:69,643,427...69,663,152
Ensembl chr 8:69,531,487...69,721,696
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APCS
amyloid P component, serum
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34142820
NCBI chr 4:90,900,585...90,901,854
Ensembl chr 4:90,898,689...90,901,874
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C1QA
complement C1q A chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34142820
NCBI chr 6:80,586,259...80,589,213
Ensembl chr 6:80,586,280...80,589,204
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C1QC
complement C1q C chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34142820
NCBI chr 6:80,592,591...80,597,464
Ensembl chr 6:80,592,473...80,597,452
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CAV1
caveolin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25811541
NCBI chr18:29,648,120...29,682,451
Ensembl chr18:29,649,992...29,682,465
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CELF2
CUGBP Elav-like family member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25811541
NCBI chr10:60,504,925...60,867,631
Ensembl chr10:60,506,504...61,084,960
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CFP
complement factor properdin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34142820
NCBI chr X:42,145,754...42,152,879
Ensembl chr X:42,143,697...42,152,868
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CLU
clusterin
ISO
mRNA:decreased expression:conjunctiva
RGD
PMID:12036968
RGD:8699507
NCBI chr14:11,336,585...11,352,569
Ensembl chr14:11,336,595...11,349,764
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COPS5
COP9 signalosome subunit 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25811541
NCBI chr 4:67,740,528...67,758,153
Ensembl chr 4:67,739,251...67,758,150
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CRP
C-reactive protein, pentraxin-related
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34142820
NCBI chr 4:90,793,361...90,801,020
Ensembl chr 4:90,793,350...90,805,218
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CSF3
colony stimulating factor 3
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:11321886
NCBI chr12:22,333,445...22,335,949
Ensembl chr12:22,333,449...22,338,753
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CTNNB1
catenin beta 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25811541
NCBI chr13:25,163,550...25,208,314
Ensembl chr13:25,164,277...25,208,311
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CUL1
cullin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25811541
NCBI chr 9:109,454,523...109,559,114
Ensembl chr 9:109,454,534...109,557,649
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CUL4A
cullin 4A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25811541
NCBI chr11:78,557,030...78,588,964
Ensembl chr11:78,557,013...78,589,193
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DERL1
derlin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25811541
NCBI chr 4:16,310,407...16,341,405
Ensembl chr 4:16,310,314...16,341,433
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ELMO1
engulfment and cell motility 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25811541
NCBI chr18:36,755,026...37,336,095
Ensembl chr18:36,786,378...37,347,283
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EP300
E1A binding protein p300
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25811541
NCBI chr 5:7,311,165...7,394,515
Ensembl chr 5:7,311,171...7,393,760
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FBXO6
F-box protein 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25811541
NCBI chr 6:71,755,335...71,774,264
Ensembl chr 6:71,768,498...71,774,243
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IFNG
interferon gamma
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25811541
NCBI chr 5:32,477,906...32,482,670
Ensembl chr 5:32,477,906...32,482,670
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LBP
lipopolysaccharide binding protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34142820
NCBI chr17:41,398,935...41,429,467
Ensembl chr17:41,393,818...41,429,551
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LRG1
leucine rich alpha-2-glycoprotein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34142820
NCBI chr 2:74,300,598...74,303,117
Ensembl chr 2:74,300,619...74,314,315
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MIF
macrophage migration inhibitory factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9372356
NCBI chr14:49,840,303...49,841,063
Ensembl chr14:49,840,305...49,841,068
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MIR18A
microRNA mir-18a
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34142820
NCBI chr11:60,734,791...60,734,882
Ensembl chr11:60,734,791...60,734,882
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NEDD4
NEDD4 E3 ubiquitin protein ligase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25811541
NCBI chr 1:115,941,945...116,069,884
Ensembl chr 1:115,941,940...116,070,305
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NFKBIZ
NFKB inhibitor zeta
ISO
MouseDO
NCBI chr13:157,261,419...157,273,119
Ensembl chr13:157,261,419...157,272,688
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NOS2
nitric oxide synthase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10620138
NCBI chr12:44,174,944...44,219,875
Ensembl chr12:44,174,948...44,218,146
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NUCB1
nucleobindin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25811541
NCBI chr 6:54,186,610...54,209,457
Ensembl chr 6:54,180,038...54,209,930
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ORM1
orosomucoid 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34142820
NCBI chr 1:254,939,154...254,943,065
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PARP1
poly(ADP-ribose) polymerase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25811541
NCBI chr10:14,203,157...14,241,164
Ensembl chr10:14,203,160...14,241,196
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PML
PML nuclear body scaffold
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25811541
NCBI chr 7:59,405,044...59,450,155
Ensembl chr 7:59,405,053...59,450,105
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PROS1
protein S
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34142820
NCBI chr13:165,915,298...165,999,118
Ensembl chr13:165,911,366...165,999,811
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PSMC5
proteasome 26S subunit, ATPase 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25811541
NCBI chr12:15,101,946...15,106,326
Ensembl chr12:15,101,859...15,106,213
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PTGER3
prostaglandin E receptor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21966456
NCBI chr 6:141,958,955...142,160,437
Ensembl chr 6:141,958,955...142,161,286
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PTGIS
prostaglandin I2 synthase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25811541
NCBI chr17:51,153,151...51,200,515
Ensembl chr17:51,153,154...51,200,300
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RB1
RB transcriptional corepressor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25811541
NCBI chr11:19,186,754...19,317,642
Ensembl chr11:19,186,761...19,317,690
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RBX1
ring-box 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25811541
NCBI chr 5:7,500,492...7,515,388
Ensembl chr 5:7,500,490...7,515,370
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SLA-3
MHC class I antigen 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19629158
NCBI chr 7:22,938,211...22,942,735
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TNF
tumor necrosis factor
ISO
protein:increased expression:blister:
RGD
PMID:9852250
RGD:7401184
NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,416
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VCP
valosin containing protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25811541
NCBI chr 1:235,854,532...235,869,712
Ensembl chr 1:235,851,206...235,869,634
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VWF
von Willebrand factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34142820
NCBI chr 5:64,516,627...64,655,938
Ensembl chr 5:64,519,186...65,002,452
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TPMT
thiopurine S-methyltransferase
ISO
ClinVar Annotator: match by term: Thiopurine methyltransferase deficiency
ClinVar
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 chr 7:13,821,656...13,846,107
Ensembl chr 7:13,820,866...13,846,012
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