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: Delayed Hypersensitivity
Accession: DOID:9002605
browse the term
Definition: An increased reactivity to specific antigens mediated not by antibodies but by cells.
Synonyms: exact_synonym: Delayed Hypersensitivities; Tuberculin Type Hypersensitivity; Tuberculin-Type Hypersensitivities; Type IV Hypersensitivities; Type IV Hypersensitivity
narrow_synonym: REDUCED DELAYED HYPERSENSITIVITY
primary_id: MESH:D006968
alt_id: RDO:0002568
For additional species annotation, visit the
Alliance of Genome Resources .
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ABCA1
ATP binding cassette subfamily A member 1
ISO
ClinVar Annotator: match by term: Reduced delayed hypersensitivity
ClinVar
NCBI chr11:60,761,669...60,869,753
Ensembl chr11:60,761,655...60,890,496
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ALB
albumin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19376187
NCBI chr13:62,133,747...62,169,349
Ensembl chr13:62,053,814...62,294,709
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ANXA1
annexin A1
ISO
RGD
PMID:23267026
RGD:7421573
NCBI chr 1:84,744,159...84,763,011
Ensembl chr 1:84,744,163...84,763,011
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BSCL2
BSCL2 lipid droplet biogenesis associated, seipin
ISO
ClinVar Annotator: match by term: Reduced delayed hypersensitivity
ClinVar
NCBI chr18:53,958,380...53,971,120
Ensembl chr18:53,958,475...53,971,119
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CCL2
C-C motif chemokine ligand 2
ISO
protein:increased expression:dermis, neutrophil (rat)
RGD
PMID:8774140
RGD:8549532
NCBI chr 9:39,008,187...39,009,932
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CCR1
chemokine (C-C motif) receptor 1
ISO
RGD
PMID:16493073
RGD:5688154
NCBI chr20:42,421,356...42,427,177
Ensembl chr20:42,421,356...42,426,958
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CD40
CD40 molecule
ISO
RGD
PMID:15210767
RGD:7248442
NCBI chr24:33,352,992...33,383,488
Ensembl chr24:33,372,930...33,383,301
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CTSS
cathepsin S
ISO
RGD
PMID:16631730
RGD:5687149
NCBI chr17:59,893,840...59,910,878
Ensembl chr17:59,893,840...59,910,849
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CXCR3
C-X-C motif chemokine receptor 3
ISO
RGD
PMID:15884054
RGD:5143937
NCBI chr X:55,882,433...55,884,582
Ensembl chr X:55,882,433...55,884,582
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FGF2
fibroblast growth factor 2
ISO
RGD
PMID:16507899
RGD:8554852
NCBI chr19:17,403,288...17,463,143
Ensembl chr19:16,994,661...17,463,151
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GATA3
GATA binding protein 3
ISO
mRNA, protein:increased expression:spleen
RGD
PMID:16336837
RGD:2314191
NCBI chr 2:28,068,143...28,098,445
Ensembl chr 2:28,069,051...28,087,760
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GNG3
G protein subunit gamma 3
ISO
ClinVar Annotator: match by term: Reduced delayed hypersensitivity
ClinVar
NCBI chr18:53,958,798...53,960,363
Ensembl chr18:53,958,804...53,960,284
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HNF1A
HNF1 homeobox A
ISO
ClinVar Annotator: match by term: Reduced delayed hypersensitivity
ClinVar
PMID:24033266 PMID:24728327 PMID:25741868 PMID:28492532
NCBI chr26:16,805,690...16,826,065
Ensembl chr26:16,805,690...16,824,790
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ICAM1
intercellular adhesion molecule 1
ISO
RGD
PMID:8093459
RGD:8547692
NCBI chr20:50,818,715...50,827,914
Ensembl chr20:50,818,715...50,827,914
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IFNG
interferon gamma
ISO
RGD
PMID:3139020
RGD:8157617
NCBI chr10:10,406,866...10,411,698
Ensembl chr10:10,406,867...10,411,698
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IL13
interleukin 13
treatment
ISO
RGD
PMID:19951958
RGD:8549563
NCBI chr11:20,957,870...20,961,391
Ensembl chr11:20,958,464...20,961,388
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IL17A
interleukin 17A
ISO
RGD
PMID:19373578
RGD:4888523
NCBI chr12:19,854,129...19,862,521
Ensembl chr12:19,854,129...19,862,513
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ABCA6
ATP binding cassette subfamily A member 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17374397
NCBI chr 9:15,587,837...15,648,639
Ensembl chr 9:15,420,835...15,783,045
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ASRGL1
asparaginase and isoaspartyl peptidase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16033404
NCBI chr18:54,215,920...54,238,094
Ensembl chr18:54,216,926...54,238,059
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BCL2
BCL2 apoptosis regulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16033404
NCBI chr 1:13,733,849...13,900,653
Ensembl chr 1:13,731,406...13,900,658
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BMP6
bone morphogenetic protein 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17374397
NCBI chr35:7,780,763...7,833,095
Ensembl chr35:7,804,231...7,831,845
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CALCRL
calcitonin receptor like receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17374397
NCBI chr36:29,342,869...29,442,977
Ensembl chr36:29,345,236...29,442,732
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CASP8
caspase 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16033404
NCBI chr37:10,362,071...10,402,108
Ensembl chr37:10,391,048...10,401,822
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CCL17
C-C motif chemokine ligand 17
ISO
RGD
PMID:15491423
RGD:1626251
NCBI chr 2:59,001,463...59,014,347
Ensembl chr 2:59,001,464...59,005,230
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CCL19
C-C motif chemokine ligand 19
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17597826
NCBI chr11:51,357,706...51,359,207
Ensembl chr11:51,340,530...51,359,365
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CCL5
C-C motif chemokine ligand 5
ISO
protein:increased expression:ear (mouse)
RGD
PMID:15491423
RGD:1626251
NCBI chr 9:37,817,409...37,823,852
Ensembl chr 9:37,817,305...37,823,852
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CCR1
chemokine (C-C motif) receptor 1
ISO
RGD
PMID:18844696
RGD:5688176
NCBI chr20:42,421,356...42,427,177
Ensembl chr20:42,421,356...42,426,958
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CCR2
C-C motif chemokine receptor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:10899907 PMID:17374397
RGD:8661227
NCBI chr20:42,305,344...42,313,258
Ensembl chr20:42,307,580...42,308,698
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CCR3
C-C motif chemokine receptor 3
ISO
RGD
PMID:22075493
RGD:6892916
NCBI chr20:42,382,380...42,398,449
Ensembl chr20:42,383,135...42,384,217
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CCR5
C-C motif chemokine receptor 5
ISO
mRNA:increased expression:skin, lymph node (rat)
RGD
PMID:16977379
RGD:2325935
NCBI chr20:42,293,288...42,297,952
Ensembl chr20:42,294,996...42,297,952
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CD36
CD36 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17374397
NCBI chr18:20,299,808...20,375,856
Ensembl chr18:20,339,050...20,372,639
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CD3D
CD3 delta subunit of T-cell receptor complex
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17597826
NCBI chr 5:15,392,841...15,396,745
Ensembl chr 5:15,389,243...15,396,750
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CIDEC
cell death inducing DFFA like effector c
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17374397
NCBI chr20:8,386,334...8,402,076
Ensembl chr20:8,386,415...8,401,774
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CISH
cytokine inducible SH2 containing protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16033404
NCBI chr20:38,762,239...38,767,701
Ensembl chr20:38,762,378...38,766,620
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CNTN3
contactin 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17597826
NCBI chr20:17,703,159...18,032,041
Ensembl chr20:17,702,492...18,030,345
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CREM
cAMP responsive element modulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17374397
NCBI chr 2:1,755,189...1,828,746
Ensembl chr 2:1,755,522...1,828,910
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CTSC
cathepsin C
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17374397
NCBI chr21:11,659,296...11,692,957
Ensembl chr21:11,659,292...11,692,816
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CYP1A1
cytochrome P450 family 1 subfamily A member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11312644 PMID:19022366
NCBI chr30:37,793,277...37,799,535
Ensembl chr30:37,793,508...37,796,866
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EMB
embigin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17374397
NCBI chr 4:64,409,497...64,460,215
Ensembl chr 4:64,409,589...64,459,376
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ETS2
ETS proto-oncogene 2, transcription factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16033404
NCBI chr31:33,846,821...33,861,394
Ensembl chr31:33,839,010...33,860,330
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F13A1
coagulation factor XIII A chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17374397
NCBI chr35:6,186,750...6,347,522
Ensembl chr35:6,187,235...6,349,773
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FGL2
fibrinogen like 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17374397
NCBI chr18:17,328,794...17,335,429
Ensembl chr18:17,331,780...17,335,401
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FLT1
fms related receptor tyrosine kinase 1
ISO
mRNA:protein:skin:
RGD
PMID:7876550
RGD:7421586
NCBI chr25:11,231,958...11,410,379
Ensembl chr25:11,231,737...11,407,621
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FYB1
FYN binding protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16033404
NCBI chr 4:69,729,481...69,876,962
Ensembl chr 4:69,729,462...69,874,845
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GRK2
G protein-coupled receptor kinase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16033404
NCBI chr18:50,148,566...50,167,422
Ensembl chr18:50,148,598...50,167,428
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HSD11B1
hydroxysteroid 11-beta dehydrogenase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16033404
NCBI chr 7:8,344,380...8,409,901
Ensembl chr 7:8,344,447...8,409,897
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IFI30
IFI30 lysosomal thiol reductase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17597826
NCBI chr20:44,819,862...44,823,261
Ensembl chr20:44,819,893...44,823,342
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IFNG
interferon gamma
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11312644 PMID:12484431 PMID:15347381
NCBI chr10:10,406,866...10,411,698
Ensembl chr10:10,406,867...10,411,698
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IGSF6
immunoglobulin superfamily member 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16033404
NCBI chr 6:23,185,442...23,195,432
Ensembl chr 6:23,185,461...23,194,787
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IL10
interleukin 10
treatment
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:15347381 PMID:23760007
RGD:7364806
NCBI chr 7:5,933,285...5,937,057
Ensembl chr 7:5,933,285...5,937,057
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IL18
interleukin 18
treatment
ISO
mRNA:increased expression:skin CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:9781803 PMID:12874202 PMID:27585668
RGD:8655902 RGD:8655940
NCBI chr 5:20,972,742...20,995,327
Ensembl chr 5:20,972,871...20,995,348
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IL18BP
interleukin 18 binding protein
treatment
ISO
RGD
PMID:12874202
RGD:8655940
NCBI chr21:26,076,515...26,080,741
Ensembl chr21:26,076,700...26,078,612
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IL1A
interleukin 1 alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23178550
NCBI chr17:36,969,581...36,979,445
Ensembl chr17:36,970,573...36,979,435
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IL2
interleukin 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11312644 PMID:22245253
NCBI chr19:17,750,780...17,756,394
Ensembl chr19:17,750,780...17,756,394
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IL2RA
interleukin 2 receptor subunit alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16033404
NCBI chr 2:29,892,130...29,948,926
Ensembl chr 2:29,894,125...29,944,643
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IL32
interleukin 32
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17597826
NCBI chr 6:38,119,287...38,122,979
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IL4
interleukin 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12484431 PMID:21804303
NCBI chr11:20,972,693...20,981,539
Ensembl chr11:20,972,690...20,981,534
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IL5
interleukin 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15347381
NCBI chr11:20,825,469...20,827,269
Ensembl chr11:20,825,469...20,827,269
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IPCEF1
interaction protein for cytohesin exchange factors 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17374397
NCBI chr 1:44,066,398...44,164,173
Ensembl chr 1:44,070,004...44,363,107
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ITGAM
integrin subunit alpha M
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16033404
NCBI chr 6:16,944,062...16,996,525
Ensembl chr 6:16,808,971...16,996,286
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JAM2
junctional adhesion molecule 2
ISO
RGD
PMID:16297198
RGD:7488919
NCBI chr31:21,137,378...21,198,278
Ensembl chr31:21,137,363...21,197,668
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JAM3
junctional adhesion molecule 3
ISO
RGD
PMID:16297198
RGD:7488919
NCBI chr 5:1,082,619...1,165,188
Ensembl chr 5:1,084,560...1,165,121
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KDR
kinase insert domain receptor
ISO
mRNA:protein:skin:
RGD
PMID:7876550
RGD:7421586
NCBI chr13:47,442,861...47,484,574
Ensembl chr13:47,442,764...47,485,042
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KMO
kynurenine 3-monooxygenase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16033404
NCBI chr 7:32,941,487...32,994,541
Ensembl chr 7:32,941,487...32,994,541
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MC1R
melanocortin 1 receptor
ISO
RGD
PMID:20126537
RGD:5687319
NCBI chr 5:63,694,296...63,695,249
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MEOX1
mesenchyme homeobox 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16033404
NCBI chr 9:19,614,568...19,641,426
Ensembl chr 9:19,614,503...19,640,908
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MIR155
microRNA mir-155
treatment
ISO
RGD
PMID:29404871
RGD:21079472
NCBI chr31:21,078,768...21,078,828
Ensembl chr31:21,078,758...21,078,833
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MIR21
microRNA mir-21
treatment
ISO
RGD
PMID:29282578
RGD:41404666
NCBI chr 9:34,340,550...34,340,609
Ensembl chr 9:34,340,533...34,340,624
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MKI67
marker of proliferation Ki-67
ISO
RGD
PMID:21294775
RGD:6483538
NCBI chr28:36,920,679...36,939,336
Ensembl chr28:36,913,023...36,939,486
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MMP3
matrix metallopeptidase 3 (stromelysin 1, progelatinase)
ISO
mRNA:increased expression:skin, lymph node
RGD
PMID:10359808 PMID:16977379
RGD:2325935 RGD:8693317
NCBI chr 5:28,949,631...28,957,915
Ensembl chr 5:28,949,631...28,958,222
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MMP9
matrix metallopeptidase 9
ISO
mRNA:increased expression:skin, lymph node
RGD
PMID:10359808 PMID:10415717 PMID:16977379
RGD:2325935 RGD:8547869 RGD:8693317
NCBI chr24:33,274,260...33,281,116
Ensembl chr24:33,274,268...33,281,293
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MRC1
mannose receptor C-type 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16033404
NCBI chr 2:19,090,580...19,185,943
Ensembl chr 2:19,069,120...19,185,691
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MXD1
MAX dimerization protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17374397
NCBI chr10:68,550,232...68,572,950
Ensembl chr10:68,549,533...68,571,538
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NAMPT
nicotinamide phosphoribosyltransferase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17374397
NCBI chr18:14,110,045...14,211,268
Ensembl chr18:13,993,022...14,208,657
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NFE2L2
NFE2 like bZIP transcription factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23564646
NCBI chr36:20,989,205...21,087,044
Ensembl chr36:20,989,360...21,012,524
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NINJ1
ninjurin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17374397
NCBI chr 1:98,566,520...98,576,668
Ensembl chr 1:98,567,680...98,576,657
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NUMA1
nuclear mitotic apparatus protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16033404
NCBI chr21:26,000,579...26,076,281
Ensembl chr21:26,037,095...26,075,549
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OGG1
8-oxoguanine DNA glycosylase
ISO
RGD
PMID:15677345
RGD:8657146
NCBI chr20:8,486,150...8,491,448
Ensembl chr20:8,480,005...8,491,264
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PHLDA1
pleckstrin homology like domain family A member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17374397
NCBI chr15:19,127,371...19,128,912
Ensembl chr15:19,128,035...19,128,779
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PIM1
Pim-1 proto-oncogene, serine/threonine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16033404
NCBI chr12:6,213,504...6,217,933
Ensembl chr12:6,211,867...6,217,933
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PLAT
plasminogen activator, tissue type
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17374397
NCBI chr16:23,469,590...23,496,013
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PRDX4
peroxiredoxin 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16033404
NCBI chr X:19,361,658...19,383,718
Ensembl chr X:19,361,731...19,383,719
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QPCT
glutaminyl-peptide cyclotransferase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16033404
NCBI chr17:29,700,422...29,741,652
Ensembl chr17:29,716,378...29,741,221
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RAB32
RAB32, member RAS oncogene family
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17374397
NCBI chr 1:37,706,809...37,719,044
Ensembl chr 1:37,712,142...37,718,266
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RGS1
regulator of G protein signaling 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17374397
NCBI chr38:6,372,451...6,376,427
Ensembl chr38:6,372,558...6,376,315
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SAT1
spermidine/spermine N1-acetyltransferase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17374397
NCBI chr X:19,461,945...19,464,209
Ensembl chr X:19,463,109...19,464,116
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SELE
selectin E
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17597826
NCBI chr 7:28,888,503...28,898,787
Ensembl chr 7:28,888,197...28,898,786
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SLC2A3
solute carrier family 2 member 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17374397
NCBI chr27:37,297,932...37,309,604
Ensembl chr27:37,297,932...37,428,410
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SLC7A5
solute carrier family 7 member 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17374397
NCBI chr 5:65,313,105...65,343,858
Ensembl chr 5:65,313,105...65,343,858
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SOCS1
suppressor of cytokine signaling 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16033404
NCBI chr 6:31,511,003...31,511,995
Ensembl chr 6:31,509,268...31,511,557
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SOCS2
suppressor of cytokine signaling 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16033404
NCBI chr15:33,761,434...33,788,973
Ensembl chr15:33,785,545...33,877,869
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SPP1
secreted phosphoprotein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:14555839
NCBI chr32:11,354,070...11,362,325
Ensembl chr32:11,353,953...11,362,069
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ST6GAL1
ST6 beta-galactoside alpha-2,6-sialyltransferase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16033404
NCBI chr34:19,497,577...19,589,125
Ensembl chr34:19,497,922...19,586,427
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STAC
SH3 and cysteine rich domain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16033404
NCBI chr23:6,372,337...6,524,334
Ensembl chr23:6,372,257...6,519,748
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TAP2
transporter 2, ATP binding cassette subfamily B member
susceptibility
ISO
RGD
PMID:9303338
RGD:6482276
NCBI chr12:2,407,512...2,417,469
Ensembl chr12:2,378,126...2,432,303
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TLR4
toll like receptor 4
ISO
RGD
PMID:18725520 PMID:20711192
RGD:7777133 RGD:7794737
NCBI chr11:71,356,390...71,367,166
Ensembl chr11:71,356,390...71,367,165
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TLR7
toll like receptor 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16033404
NCBI chr X:9,331,243...9,360,461
Ensembl chr X:9,314,815...9,359,603
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TMSB10
thymosin beta 10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17597826
NCBI chr17:40,048,823...40,049,508
Ensembl chr17:40,048,828...40,049,470
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TNF
tumor necrosis factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15849067
NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425
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TNFAIP6
TNF alpha induced protein 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16033404 PMID:17374397
NCBI chr19:52,607,598...52,623,799
Ensembl chr19:52,607,713...52,623,811
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TSLP
thymic stromal lymphopoietin
treatment
ISO
RGD
PMID:30187507
RGD:38596345
NCBI chr 3:1,502,469...1,507,696
Ensembl chr 3:1,503,188...1,507,696
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UPP1
uridine phosphorylase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16033404
NCBI chr18:108,215...120,213
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VEGFA
vascular endothelial growth factor A
ISO
mRNA:protein:skin:
RGD
PMID:7876550
RGD:7421586
NCBI chr12:12,209,032...12,224,978
Ensembl chr12:12,208,231...12,224,965
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ACTL9
actin like 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23042114
NCBI chr20:53,176,345...53,179,880
Ensembl chr20:53,178,504...53,179,754
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AHR
aryl hydrocarbon receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27869817
NCBI chr14:31,743,704...31,793,484
Ensembl chr14:31,686,170...31,791,444
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APOE
apolipoprotein E
ISO
protein:decreased expression:plasma
RGD
PMID:19116453
RGD:11040546
NCBI chr 1:110,525,717...110,528,534
Ensembl chr 1:110,525,722...110,528,440
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ARTN
artemin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27869817
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B9D2
B9 domain containing 2
ISO
RGD
PMID:11496247
RGD:7394812
NCBI chr 1:112,621,832...112,627,726
Ensembl chr 1:112,621,633...112,643,885
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BDNF
brain derived neurotrophic factor
no_association susceptibility
ISO
protein:increased expression:serum: DNA:polymorphism:cds:p.V66M(human) mRNA:decreased expression:mast cell DNA:polymorphism::C270T(human)
RGD
PMID:17073871 PMID:17845420 PMID:19038326 PMID:19522715
RGD:8657028 RGD:8657065 RGD:8657067 RGD:8657069
NCBI chr21:48,191,580...48,243,699
Ensembl chr21:48,192,670...48,204,480
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C3
complement C3
ISO
protein:increased expression:plasma
RGD
PMID:3923750
RGD:7401273
NCBI chr20:53,566,226...53,598,365
Ensembl chr20:53,566,261...53,598,761
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CARD11
caspase recruitment domain family member 11
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23042114 PMID:28628108
NCBI chr 6:14,273,115...14,331,029
Ensembl chr 6:14,210,114...14,332,094
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CCDC80
coiled-coil domain containing 80
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23042114
NCBI chr33:17,105,086...17,141,380
Ensembl chr33:17,105,086...17,139,896
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CCL17
C-C motif chemokine ligand 17
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18249437
NCBI chr 2:59,001,463...59,014,347
Ensembl chr 2:59,001,464...59,005,230
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CCL20
C-C motif chemokine ligand 20
severity treatment
ISO
protein:increased expression:plasma
RGD
PMID:11133838 PMID:19162238
RGD:7483580 RGD:7483583
NCBI chr25:40,506,385...40,509,903
Ensembl chr25:40,506,753...40,509,709
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CCL22
C-C motif chemokine ligand 22
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18249437 PMID:22125604
NCBI chr 2:59,039,650...59,045,519
Ensembl chr 2:59,040,539...59,045,625
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CCL24
C-C motif chemokine ligand 24
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18249437
NCBI chr 6:7,166,165...7,179,606
Ensembl chr 6:7,166,479...7,180,051
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CCL26
C-C motif chemokine ligand 26
ISO
protein:increased expression:serum (human)
RGD
PMID:14616792
RGD:11087554
NCBI chr 6:7,151,352...7,154,509
Ensembl chr 6:7,151,212...7,154,726
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CCL27
C-C motif chemokine ligand 27
ISO
RGD
PMID:12642842
RGD:1626250
NCBI chr11:51,334,870...51,338,752
Ensembl chr11:51,334,778...51,335,591
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CCL28
C-C motif chemokine ligand 28
severity
ISO
associated with Asthma; protein: increased secretion:serum (human)
RGD
PMID:20161852
RGD:4892193
NCBI chr 4:66,567,139...66,597,310
Ensembl chr 4:66,566,989...66,597,459
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CCL5
C-C motif chemokine ligand 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18249437
NCBI chr 9:37,817,409...37,823,852
Ensembl chr 9:37,817,305...37,823,852
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CCR2
C-C motif chemokine receptor 2
ISO
protein:increased expression:skin,monocyte:
RGD
PMID:15370700
RGD:8661734
NCBI chr20:42,305,344...42,313,258
Ensembl chr20:42,307,580...42,308,698
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CCR3
C-C motif chemokine receptor 3
ISO
protein:increased expression:skin CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:16449815 PMID:18249437
RGD:6893391
NCBI chr20:42,382,380...42,398,449
Ensembl chr20:42,383,135...42,384,217
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CCR5
C-C motif chemokine receptor 5
ISO
CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:16449815 PMID:18249437
RGD:6893391
NCBI chr20:42,293,288...42,297,952
Ensembl chr20:42,294,996...42,297,952
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CD40
CD40 molecule
ISO
RGD
PMID:18693155
RGD:5132274
NCBI chr24:33,352,992...33,383,488
Ensembl chr24:33,372,930...33,383,301
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CDSN
corneodesmosin
ISO
protein:decreased expression:skin of body (human)
RGD
PMID:21211653
RGD:42721970
NCBI chr12:819,488...824,015
Ensembl chr12:820,467...823,986
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CLDN1
claudin 1
ISO
mRNA,protein:decreased expression:epidermis:
RGD
PMID:21163515
RGD:11344875
NCBI chr34:22,303,058...22,319,101
Ensembl chr34:22,303,850...22,319,033
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CLDN23
claudin 23
ISO
mRNA:decreased expression:epidermis:
RGD
PMID:21163515
RGD:11344875
NCBI chr16:35,786,709...35,788,430
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CMA1
chymase 1
ISO
DNA:polymorphism:5' utr:g.-1903G>A rs1800875 (human)
RGD
PMID:16134991
RGD:1625394
NCBI chr 8:4,438,244...4,441,189
Ensembl chr 8:4,438,244...4,441,189
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CTLA4
cytotoxic T-lymphocyte associated protein 4
susceptibility
ISO
mRNA:increased expression:blood: DNA:SNP,haplotype:exon,3'UTR:rs3087243,rs231775 (human)
RGD
PMID:16445777 PMID:22357516
RGD:7411698 RGD:7411700
NCBI chr37:12,647,712...12,653,874
Ensembl chr37:12,634,563...12,653,874
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CX3CL1
C-X3-C motif chemokine ligand 1
ISO
protein:increased expression:serum
RGD
PMID:15131578
RGD:9491761
NCBI chr 2:59,022,794...59,032,095
Ensembl chr 2:59,022,794...59,032,095
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CX3CR1
C-X3-C motif chemokine receptor 1
ISO
protein:decreased expression:blood, leukocyte
RGD
PMID:15131578 PMID:24821910
RGD:9491393 RGD:9491761
NCBI chr23:8,937,069...8,954,738
Ensembl chr23:8,938,906...8,952,808
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CXCL10
C-X-C motif chemokine ligand 10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18249437
NCBI chr32:598,406...599,925
Ensembl chr32:597,987...599,979
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CXCR3
C-X-C motif chemokine receptor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18249437
NCBI chr X:55,882,433...55,884,582
Ensembl chr X:55,882,433...55,884,582
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CYP1A1
cytochrome P450 family 1 subfamily A member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27869817
NCBI chr30:37,793,277...37,799,535
Ensembl chr30:37,793,508...37,796,866
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CYP4F22
cytochrome P450 family 4 subfamily F member 22
ISO
ClinVar Annotator: match by term: Atopic eczema
ClinVar
PMID:25741868
NCBI chr20:46,674,580...46,743,183
Ensembl chr20:46,458,620...46,705,789
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DOCK8
dedicator of cytokinesis 8
ISO
DNA:mutations:cds:
RGD
PMID:22476911
RGD:40903056
NCBI chr 1:89,152,456...89,379,203
Ensembl chr 1:89,150,856...89,378,013
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EMSY
EMSY transcriptional repressor, BRCA2 interacting
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23042114
NCBI chr21:22,149,131...22,289,857
Ensembl chr21:22,149,127...22,289,875
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F2
coagulation factor II, thrombin
ISO
protein:increased expression:plasma
RGD
PMID:21488867
RGD:5147756
NCBI chr18:42,782,744...42,799,531
Ensembl chr18:42,782,751...42,799,459
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FLG
filaggrin
ISO
ClinVar Annotator: match by term: Atopic eczema
ClinVar
PMID:16444271 PMID:16550169 PMID:16815158 PMID:17030239 PMID:17417636 PMID:17657246 PMID:18325573 PMID:19501237 PMID:19538357 PMID:19733298 PMID:19785597 PMID:19839980 PMID:19874431 PMID:20426775 PMID:20573035 PMID:21365004 PMID:21377035 PMID:21514438 PMID:21564328 PMID:21777221 PMID:22403702 PMID:22995991 PMID:23039796 PMID:23166590 PMID:23343419 PMID:23352160 PMID:23947670 PMID:23993222 PMID:24033266 PMID:24251354 PMID:24920311 PMID:25333069 PMID:25741868 PMID:26451970 PMID:27279822 PMID:27363669 PMID:27462351 PMID:28164424 PMID:28213896 PMID:28730607 PMID:29054605 PMID:29068602 PMID:29428354 PMID:29431110 PMID:29444371 PMID:29791750 PMID:30665703 PMID:31637781 More...
NCBI chr17:61,217,915...61,233,068
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GLB1
galactosidase beta 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23042114
NCBI chr23:3,721,768...3,814,209
Ensembl chr23:3,732,040...3,814,191
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GSTP1
glutathione S-transferase pi 1
susceptibility
ISO
DNA:polymorphism:exon:p.I105V (rs1695) (human)
RGD
PMID:19842992 PMID:20674822
RGD:5490540 RGD:5490981
NCBI chr18:49,905,161...49,908,182
Ensembl chr18:49,905,161...49,908,182
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HAVCR1
hepatitis A virus cellular receptor 1
ISO
RGD
PMID:16159638
RGD:5128852
NCBI chr 4:53,012,223...53,066,611
Ensembl chr 4:53,046,970...53,128,952 Ensembl chr 4:53,046,970...53,128,952
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HNMT
histamine N-methyltransferase
ISO
RGD
PMID:19025430
RGD:5128889
NCBI chr19:40,656,266...40,702,498
Ensembl chr19:40,655,161...40,702,218
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IFNG
interferon gamma
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:18249437 PMID:22101570
RGD:8157618
NCBI chr10:10,406,866...10,411,698
Ensembl chr10:10,406,867...10,411,698
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IFNL3
interferon lambda 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22295096
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IL10
interleukin 10
treatment
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:18249437 PMID:23843958
RGD:7364805
NCBI chr 7:5,933,285...5,937,057
Ensembl chr 7:5,933,285...5,937,057
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IL13
interleukin 13
severity treatment
ISO
CTD Direct Evidence: marker/mechanism DNA:SNP:exon:4257G>A (human) DNA:SNPs: :rs3091307, rs20541 (human) DNA, protein:SNP, increased expression:promoter, serum:-1112C>T (human)
RGD CTD
PMID:10887320 PMID:16672002 PMID:17313488 PMID:18249437 PMID:19006098 PMID:21913997 PMID:22355542 PMID:23317483 More...
RGD:5684364 RGD:8549509 RGD:8549529 RGD:8549531 RGD:8549539 RGD:8549583
NCBI chr11:20,957,870...20,961,391
Ensembl chr11:20,958,464...20,961,388
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IL13RA1
interleukin 13 receptor subunit alpha 1
ISO
mRNA:increased expression:skin
RGD
PMID:14527737
RGD:8549525
NCBI chr X:90,925,497...90,981,855
Ensembl chr X:90,924,801...90,979,963
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IL13RA2
interleukin 13 receptor subunit alpha 2
ISO
protein:increased expression:serum
RGD
PMID:20971924 PMID:21462799
RGD:8549521 RGD:8549556
NCBI chr X:87,747,373...87,776,797
Ensembl chr X:87,747,373...87,776,798
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IL17A
interleukin 17A
treatment severity
ISO
protein:increased expression:epidermis (mouse) protein:increased expression:dermis, lymphocyte (human)
RGD
PMID:18432274 PMID:22848348 PMID:24337738
RGD:8698670 RGD:9068417 RGD:9068436
NCBI chr12:19,854,129...19,862,521
Ensembl chr12:19,854,129...19,862,513
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IL18
interleukin 18
no_association severity
ISO
protein:increased expression:serum DNA:SNP:promoter:-137G>C (rs187238) (human) DNA:SNP:promoter:-140C>G (rs360721) (human) DNA:SNPs, haplotype: :rs795467, rs4937113, rs5744247 (human)
RGD
PMID:11490156 PMID:15317323 PMID:17517100 PMID:22840759
RGD:8655872 RGD:8655876 RGD:8655908 RGD:8655914
NCBI chr 5:20,972,742...20,995,327
Ensembl chr 5:20,972,871...20,995,348
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IL1B
interleukin 1 beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18249437
NCBI chr17:37,019,329...37,033,388
Ensembl chr17:37,019,329...37,024,458
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IL2
interleukin 2
susceptibility
ISO
DNA:SNP:promoter:rs2069762(human) associated with food hypersensitivity; protein:increased expression:CD8+ T cell:
RGD
PMID:1673687 PMID:7547077 PMID:16333313 PMID:16672002 PMID:21982597
RGD:8549583 RGD:8662961 RGD:8663444 RGD:8663473 RGD:8693325
NCBI chr19:17,750,780...17,756,394
Ensembl chr19:17,750,780...17,756,394
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IL21R
interleukin 21 receptor
ISO
protein:increased expression:skin
RGD
PMID:19075398
RGD:6892938
NCBI chr 6:19,181,846...19,217,915
Ensembl chr 6:19,182,071...19,217,931
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IL25
interleukin 25
ISO
protein:increased expression:arm skin
RGD
PMID:23657503
RGD:39128244
NCBI chr 8:3,621,268...3,624,689
Ensembl chr 8:3,618,161...3,624,043
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IL31
interleukin 31
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18249437
NCBI chr26:7,173,151...7,175,195
Ensembl chr26:7,172,451...7,175,195
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IL32
interleukin 32
ISO
mRNA:splice variant:zone of skin (human)
RGD
PMID:28301691
RGD:150340720
NCBI chr 6:38,119,287...38,122,979
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IL33
interleukin 33
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18249437
NCBI chr11:27,219,878...27,256,723
Ensembl chr11:27,219,878...27,256,721
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IL4
interleukin 4
ISO
protein:increased expression:serum CTD Direct Evidence: marker/mechanism DNA:SNP:promoter:-590C>T (human)
RGD CTD
PMID:8363440 PMID:9643293 PMID:11886533 PMID:12230500 PMID:18249437
RGD:7829786 RGD:7829795
NCBI chr11:20,972,693...20,981,539
Ensembl chr11:20,972,690...20,981,534
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IL4R
interleukin 4 receptor
susceptibility
ISO
DNA:mutation:cds:p.Q576R(human)
RGD
PMID:9392697
RGD:11530001
NCBI chr 6:19,254,183...19,280,973
Ensembl chr 6:19,254,487...19,389,291
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IL5
interleukin 5
ISO
CTD Direct Evidence: marker/mechanism mRNA: increased expression: skin
CTD RGD
PMID:11886533 PMID:18249437 PMID:22299064
RGD:5687175
NCBI chr11:20,825,469...20,827,269
Ensembl chr11:20,825,469...20,827,269
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IL6
interleukin 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18249437
NCBI chr14:36,474,268...36,478,519
Ensembl chr14:36,473,394...36,478,519
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KCNJ11
potassium inwardly rectifying channel subfamily J member 11
ISO
ClinVar Annotator: match by term: Atopic eczema
ClinVar
NCBI chr21:39,953,461...39,957,615
Ensembl chr21:39,955,551...39,956,723
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LOC403581
peptidylprolyl isomerase A (cyclophilin A) pseudogene
ISO
mRNA:increased expression:zone of skin (human)
RGD
PMID:32496587
RGD:150383342
NCBI chr 7:80,937,433...80,938,175
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MAPK8
mitogen-activated protein kinase 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24046278
NCBI chr28:323,361...410,367
Ensembl chr28:368,513...406,401
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MBL1
mannose binding lectin 1
susceptibility
ISO
DNA:polymorphisms:promoter, exon:
RGD
PMID:20642202
RGD:8693720
NCBI chr 4:29,419,886...29,424,377
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MC1R
melanocortin 1 receptor
ISO
protein: increased expression: skin
RGD
PMID:19889022
RGD:5687321
NCBI chr 5:63,694,296...63,695,249
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MMP9
matrix metallopeptidase 9
treatment
ISO
RGD
PMID:27776525
RGD:13204759
NCBI chr24:33,274,260...33,281,116
Ensembl chr24:33,274,268...33,281,293
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MS4A2
membrane spanning 4-domains A2
susceptibility
ISO
Atopy and bronchial hyperresponsiveness, OMIM:147050 DNA:polymorphism:CDS:amino acid E237G
RGD
PMID:8817330
RGD:1599903
NCBI chr21:50,439,133...50,456,785
Ensembl chr21:50,450,024...50,456,785
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NGF
nerve growth factor
ISO
protein:increased expression:serum:
RGD
PMID:17073871
RGD:8657069
NCBI chr17:52,900,647...52,901,607
Ensembl chr17:52,900,647...52,901,607
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NGFR
nerve growth factor receptor
ISO
protein:increased expression:nerve fibers of the papillary dermis
RGD
PMID:16586073
RGD:5508452
NCBI chr 9:25,598,468...25,621,021
Ensembl chr 9:25,601,074...25,623,274
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NTRK1
neurotrophic receptor tyrosine kinase 1
ISO
protein:increased expression:eosinophil
RGD
PMID:17223862 PMID:18647313
RGD:5144116 RGD:5684771
NCBI chr 7:41,140,931...41,159,326
Ensembl chr 7:41,140,879...41,159,288
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OVOL1
ovo like transcriptional repressor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23042114
NCBI chr18:51,454,170...51,465,189
Ensembl chr18:51,455,107...51,464,847
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PPARA
peroxisome proliferator activated receptor alpha
ISO
CTD Direct Evidence: marker/mechanism potential therapeutic target with or without glucocorticoid therapy
CTD RGD
PMID:18249437 PMID:21633371
RGD:5509940
NCBI chr10:19,934,020...20,006,096
Ensembl chr10:19,934,165...20,006,146
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RELB
RELB proto-oncogene, NF-kB subunit
ISO
RGD
PMID:10940923
RGD:7777149
NCBI chr 1:110,436,677...110,466,709
Ensembl chr 1:110,436,662...110,466,809
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S100A8
S100 calcium binding protein A8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18336422
NCBI chr 7:43,540,667...43,541,604
Ensembl chr 7:43,501,989...43,541,604
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SELE
selectin E
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12410700
NCBI chr 7:28,888,503...28,898,787
Ensembl chr 7:28,888,197...28,898,786
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SELP
selectin P
ISO
atopy and bronchial hyperresponsiveness, OMIM:147050 DNA:point_mutation:CDS:amino acid Val640Leu
RGD
PMID:12929084
RGD:1599904
NCBI chr 7:28,956,428...28,997,266
Ensembl chr 7:28,958,486...28,996,313
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SLC11A1
solute carrier family 11 member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16597321
NCBI chr37:25,039,203...25,047,461
Ensembl chr37:25,038,360...25,047,282
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STAT6
signal transducer and activator of transcription 6
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:15306842
NCBI chr10:1,232,515...1,247,011
Ensembl chr10:1,233,691...1,247,075
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TLR2
toll like receptor 2
severity
ISO
DNA:polymorphism:cds:p.R753Q(human) DNA:polymorphism: :-16934A>T(human)
RGD
PMID:17531301 PMID:19627277 PMID:22032785
RGD:8552997 RGD:8552999 RGD:8553048
NCBI chr15:51,454,557...51,465,429
Ensembl chr15:51,454,695...51,465,241
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TLR4
toll like receptor 4
ISO
mRNA:increased expression:blood cell: DNA:polymorphism: :896G>A(human)
RGD
PMID:19764566 PMID:23821954
RGD:7794689 RGD:7794745
NCBI chr11:71,356,390...71,367,166
Ensembl chr11:71,356,390...71,367,165
G
TNF
tumor necrosis factor
susceptibility
ISO
DNA:haplotype:promoter:−308G>A,-238G>A(human)
RGD
PMID:22533231
RGD:7401246
NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425
G
TNFAIP6
TNF alpha induced protein 6
ISO
mRNA:altered expression:fibroblast
RGD
PMID:16650051
RGD:7777183
NCBI chr19:52,607,598...52,623,799
Ensembl chr19:52,607,713...52,623,811
G
TSLP
thymic stromal lymphopoietin
treatment
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16880407 PMID:22355542 PMID:23688403 PMID:27869817 PMID:29310423
RGD:38549374
NCBI chr 3:1,502,469...1,507,696
Ensembl chr 3:1,503,188...1,507,696
G
VDR
vitamin D receptor
severity no_association
ISO
DNA:SNPs, haplotype: :rs731236, rs1544410, rs7975232 (human) DNA:SNP: :rs2228570 (human)
RGD
PMID:23034014
RGD:8157625
NCBI chr27:6,852,915...6,909,466
Ensembl chr27:6,852,723...6,909,470
G
VNN1
vanin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19322213
NCBI chr 1:25,678,039...25,704,579
Ensembl chr 1:25,678,042...25,696,807
G
FLG
filaggrin
susceptibility
ISO
ClinVar Annotator: match by term: Atopic dermatitis 2 | ClinVar Annotator: match by term: Dermatitis, atopic, 2, susceptibility to
OMIM ClinVar
PMID:16444271 PMID:16550169 PMID:16815158 PMID:17030239 PMID:17291859 PMID:17417636 PMID:17657246 PMID:18325573 PMID:18396323 PMID:19183181 PMID:19501237 PMID:19538357 PMID:19733298 PMID:19785597 PMID:19839980 PMID:19874431 PMID:20426775 PMID:20573035 PMID:20674819 PMID:21039602 PMID:21365004 PMID:21377035 PMID:21514438 PMID:21564328 PMID:21777221 PMID:22403702 PMID:22407025 PMID:22951058 PMID:22995991 PMID:23039796 PMID:23166590 PMID:23343419 PMID:23352160 PMID:23947670 PMID:23993222 PMID:24033266 PMID:24251354 PMID:24565632 PMID:24920311 PMID:25314673 PMID:25333069 PMID:25741868 PMID:26451970 PMID:27279822 PMID:27363669 PMID:27462351 PMID:28143684 PMID:28164424 PMID:28213896 PMID:28730607 PMID:29054605 PMID:29068602 PMID:29428354 PMID:29431110 PMID:29444371 PMID:29791750 PMID:30665703 PMID:31365035 PMID:31637781 More...
NCBI chr17:61,217,915...61,233,068
G
SOCS3
suppressor of cytokine signaling 3
susceptibility
ISO
OMIM
NCBI chr 9:2,859,267...2,859,944
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all