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: atopic dermatitis
Accession: DOID:3310
browse the term
Definition: An allergic contact dermatitis that is a chronically relapsing inflammatory allergic response located_in the skin that causes itching and flaking. (DO)
Synonyms: exact_synonym: ATOD; Besnier's prurigo; allergic dermatitis; atopic dermatitides; atopic eczema; atopic neurodermatitides; atopic neurodermatitis; disseminated neurodermatitides; disseminated neurodermatitis
narrow_synonym: infantile eczema; recalcitrant atopic dermatitis
primary_id: MESH:D003876
xref: EFO:0000274 ; ICD10CM:L20 ; MIM:PS603165
For additional species annotation, visit the
Alliance of Genome Resources .
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Actl9
actin-like 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23042114
NCBI chr 7:14,234,504...14,235,881
Ensembl chr 7:14,234,504...14,235,881
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Adam17
ADAM metallopeptidase domain 17
ISS
OMIM:603165
MouseDO
NCBI chr 6:40,872,936...40,920,700
Ensembl chr 6:40,872,856...40,920,639
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Ahr
aryl hydrocarbon receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27869817
NCBI chr 6:52,234,089...52,271,568
Ensembl chr 6:52,234,089...52,271,568
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Apoe
apolipoprotein E
ISO
protein:decreased expression:plasma
RGD
PMID:19116453
RGD:11040546
NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
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Artn
artemin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27869817
NCBI chr 5:131,458,596...131,470,193
Ensembl chr 5:131,464,756...131,468,025
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Bdnf
brain-derived neurotrophic factor
susceptibility no_association
ISO
DNA:polymorphism::C270T(human) mRNA:decreased expression:mast cell DNA:polymorphism:cds:p.V66M(human) protein:increased expression:serum:
RGD
PMID:19522715 PMID:17845420 PMID:19038326 PMID:17073871
RGD:8657028 , RGD:8657065 , RGD:8657067 , RGD:8657069
NCBI chr 3:96,165,042...96,215,621
Ensembl chr 3:96,165,042...96,215,615
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C3
complement C3
ISO
protein:increased expression:plasma
RGD
PMID:3923750
RGD:7401273
NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429
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Card11
caspase recruitment domain family, member 11
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23042114 PMID:28628108
NCBI chr12:13,621,140...13,758,115
Ensembl chr12:13,621,087...13,758,112
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Casp8
caspase 8
ISS
OMIM:603165
MouseDO
NCBI chr 9:60,263,863...60,312,542
Ensembl chr 9:60,264,075...60,312,542
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Ccdc80
coiled-coil domain containing 80
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23042114
NCBI chr11:55,685,165...55,718,827
Ensembl chr11:55,685,872...55,719,137
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Ccl11
C-C motif chemokine ligand 11
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18249437
NCBI chr10:67,028,328...67,032,929
Ensembl chr10:67,028,328...67,032,926
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Ccl17
C-C motif chemokine ligand 17
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18249437
NCBI chr19:10,202,128...10,203,903
Ensembl chr19:10,202,128...10,203,819
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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 chr 9:84,389,031...84,391,629
Ensembl chr 9:84,388,904...84,391,629
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Ccl22
C-C motif chemokine ligand 22
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18249437 PMID:22125604
NCBI chr19:10,257,602...10,264,373
Ensembl chr19:10,257,601...10,264,400
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Ccl24
C-C motif chemokine ligand 24
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18249437
NCBI chr12:21,100,835...21,104,832
Ensembl chr12:21,100,835...21,104,893
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Ccl26
C-C motif chemokine ligand 26
ISO
protein:increased expression:serum (human)
RGD
PMID:14616792
RGD:11087554
NCBI chr12:21,109,384...21,114,336
Ensembl chr12:21,109,421...21,114,335
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Ccl27
C-C motif chemokine ligand 27
ISO
RGD
PMID:12642842
RGD:1626250
NCBI chr 5:56,941,402...56,948,511
Ensembl chr 5:56,941,402...56,948,506
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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 2:51,601,354...51,625,999
Ensembl chr 2:51,601,331...51,625,997
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Ccl5
C-C motif chemokine ligand 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18249437
NCBI chr10:68,322,826...68,327,380
Ensembl chr10:68,322,829...68,327,377
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Ccr2
C-C motif chemokine receptor 2
ISO
protein:increased expression:skin,monocyte:
RGD
PMID:15370700
RGD:8661734
NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100
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Ccr3
C-C motif chemokine receptor 3
ISO
protein:increased expression:skin CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:18249437 PMID:16449815
RGD:6893391
NCBI chr 8:123,586,100...123,634,178
Ensembl chr 8:123,616,236...123,634,990
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Ccr5
C-C motif chemokine receptor 5
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:18249437 PMID:16449815
RGD:6893391
NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
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Cd40
CD40 molecule
ISO
RGD
PMID:18693155
RGD:5132274
NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
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Cdsn
corneodesmosin
ISO
protein:decreased expression:skin of body (human)
RGD
PMID:21211653
RGD:42721970
NCBI chr20:3,179,432...3,184,252
Ensembl chr20:3,179,438...3,184,250
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Cldn1
claudin 1
ISO
mRNA,protein:decreased expression:epidermis; DNA:SNPs:intron,promoter :rs17501010,rs9290927,rs893051,rs9290929,rs16865373(human)
RGD
PMID:21163515
RGD:11344875
NCBI chr11:74,421,569...74,436,728
Ensembl chr11:74,421,569...74,436,724
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Cldn23
claudin 23
ISO
mRNA:decreased expression:epidermis:
RGD
PMID:21163515
RGD:11344875
NCBI chr16:56,413,677...56,415,401
Ensembl chr16:56,413,381...56,415,523
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Cma1
chymase 1
ISO
DNA:polymorphism:5' utr:g.-1903G>A rs1800875 (human)
RGD
PMID:16134991
RGD:1625394
NCBI chr15:29,417,451...29,420,233
Ensembl chr15:29,417,451...29,420,233
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Ctla4
cytotoxic T-lymphocyte-associated protein 4
susceptibility
ISO
DNA:SNP,haplotype:exon,3'UTR:rs3087243,rs231775 (human) mRNA:increased expression:blood:
RGD
PMID:16445777 PMID:22357516
RGD:7411698 , RGD:7411700
NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
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Ctse
cathepsin E
ISS
OMIM:603165
MouseDO
NCBI chr13:43,091,954...43,114,509
Ensembl chr13:43,092,128...43,114,502
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Cx3cl1
C-X3-C motif chemokine ligand 1
ISO
protein:increased expression:serum
RGD
PMID:15131578
RGD:9491761
NCBI chr19:10,227,337...10,237,826
Ensembl chr19:10,227,340...10,236,833
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Cx3cr1
C-X3-C motif chemokine receptor 1
ISO
protein:decreased expression:blood, leukocyte
RGD
PMID:24821910 PMID:15131578
RGD:9491393 , RGD:9491761
NCBI chr 8:119,785,726...119,799,431
Ensembl chr 8:119,782,595...119,800,014
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Cxcl10
C-X-C motif chemokine ligand 10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18249437
NCBI chr14:15,704,772...15,706,969
Ensembl chr14:15,704,758...15,706,975
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Cxcr3
C-X-C motif chemokine receptor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18249437
NCBI chr X:66,844,318...66,846,969
Ensembl chr X:66,844,318...66,846,969
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Cyp1a1
cytochrome P450, family 1, subfamily a, polypeptide 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27869817
NCBI chr 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125
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Cyp4f39
cytochrome P450, family 4, subfamily f, polypeptide 39
ISO
ClinVar Annotator: match by term: Atopic eczema
ClinVar
PMID:25741868
NCBI chr 7:11,426,806...11,505,553
Ensembl chr 7:11,433,371...11,536,181
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Dock8
dedicator of cytokinesis 8
ISO
DNA:mutations:cds:
RGD
PMID:22476911
RGD:40903056
NCBI chr 1:222,649,309...222,842,474
Ensembl chr 1:222,649,309...222,842,474
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Emsy
EMSY transcriptional repressor, BRCA2 interacting
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23042114
NCBI chr 1:152,881,485...152,960,420
Ensembl chr 1:152,883,992...152,953,528
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F2
coagulation factor II, thrombin
ISO
protein:increased expression:plasma
RGD
PMID:21488867
RGD:5147756
NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486
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Fcgr2a
Fc gamma receptor 2A
severity
ISO
protein:increased expression:eosinophil
RGD
PMID:7564170 PMID:19414806
RGD:5147985 , RGD:5508430
NCBI chr13:83,280,782...83,297,535
Ensembl chr13:83,280,784...83,295,967
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Flg
filaggrin
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Atopic eczema | ClinVar Annotator: match by term: Dermatitis, atopic
CTD ClinVar
PMID:3163778 PMID:16444271 PMID:16550169 PMID:16815158 PMID:17030239 PMID:17417636 PMID:18325573 PMID:18396323 PMID:19349982 PMID:19501237 PMID:19785597 PMID:19839980 PMID:19874431 PMID:21377035 PMID:21514438 PMID:22403702 PMID:22995991 PMID:23042114 PMID:23348739 PMID:23947670 PMID:24033266 PMID:24061166 PMID:24920311 PMID:25741868 PMID:26451970 PMID:27279822 PMID:27363669 PMID:31637781 More...
NCBI chr 2:178,884,793...178,912,986
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Glb1
galactosidase, beta 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23042114
NCBI chr 8:114,085,508...114,158,127
Ensembl chr 8:114,085,508...114,158,127
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Gstm1
glutathione S-transferase mu 1
susceptibility
ISO
DNA:deletion: :
RGD
PMID:21176116 PMID:20674822
RGD:5490539 , RGD:5490981
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
DNA:polymorphism:exon:p.I105V (rs1695) (human)
RGD
PMID:19842992 PMID:20674822
RGD:5490540 , RGD:5490981
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
ISO
DNA:deletion, haplotype: :
RGD
PMID:19842992
RGD:5490540
NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585
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Havcr1
hepatitis A virus cellular receptor 1
ISO
RGD
PMID:16159638
RGD:5128852
NCBI chr10:31,118,667...31,151,730
Ensembl chr10:31,119,088...31,151,698
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Hnmt
histamine N-methyltransferase
ISO
RGD
PMID:19025430
RGD:5128889
NCBI chr 3:6,591,804...6,623,821
Ensembl chr 3:6,591,463...6,624,012
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Ifng
interferon gamma
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:18249437 PMID:33274957 PMID:22101570
RGD:8157618
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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Ifnl3
interferon, lambda 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22295096
NCBI chr 1:83,814,456...83,816,096
Ensembl chr 1:83,814,564...83,816,096
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Il10
interleukin 10
treatment
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:18249437 PMID:23843958
RGD:7364805
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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Il13
interleukin 13
severity treatment
ISO ISS
DNA:SNPs: :rs3091307, rs20541 (human) DNA, protein:SNP, increased expression:promoter, serum:-1112C>T (human) DNA:SNP:exon:4257G>A (human) CTD Direct Evidence: marker/mechanism OMIM:603165
CTD MouseDO RGD
PMID:18249437 PMID:22355542 PMID:21913997 PMID:23317483 PMID:10887320 PMID:19006098 PMID:17313488 PMID:16672002 More...
RGD:5684364 , RGD:8549509 , RGD:8549529 , RGD:8549531 , RGD:8549539 , RGD:8549583
NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737
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Il13ra1
interleukin 13 receptor subunit alpha 1
ISO
mRNA:increased expression:skin
RGD
PMID:14527737
RGD:8549525
NCBI chr X:115,348,822...115,408,682
Ensembl chr X:115,348,860...115,408,681 Ensembl chr11:115,348,860...115,408,681
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Il13ra2
interleukin 13 receptor subunit alpha 2
ISO
protein:increased expression:serum
RGD
PMID:21462799 PMID:20971924
RGD:8549521 , RGD:8549556
NCBI chr X:111,002,590...111,074,053
Ensembl chr X:111,002,592...111,072,381
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Il17a
interleukin 17A
treatment severity
ISO
protein:increased expression:epidermis (mouse) protein:increased expression:dermis, lymphocyte (human)
RGD
PMID:24337738 PMID:22848348 PMID:18432274
RGD:8698670 , RGD:9068417 , RGD:9068436
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
severity no_association
ISO ISS
protein:increased expression:serum DNA:SNPs, haplotype: :rs795467, rs4937113, rs5744247 (human) DNA:SNP:promoter:-137G>C (rs187238) (human) DNA:SNP:promoter:-140C>G (rs360721) (human) OMIM:603165
MouseDO RGD
PMID:15317323 PMID:17517100 PMID:11490156 PMID:22840759 PMID:22840759
RGD:8655872 , RGD:8655876 , RGD:8655908 , RGD:8655914 , RGD:8655914
NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
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Il1b
interleukin 1 beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18249437
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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Il2
interleukin 2
susceptibility
ISO
associated with food hypersensitivity; DNA:SNP:promoter:rs2069762(human) protein:increased expression:CD8+ T cell:
RGD
PMID:7547077 PMID:21982597 PMID:16333313 PMID:16672002 PMID:1673687
RGD:8662961 , RGD:8663444 , RGD:8663473 , RGD:8549583 , RGD:8693325
NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
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Il21r
interleukin 21 receptor
ISO
protein:increased expression:skin
RGD
PMID:19075398 PMID:19075398
RGD:6892938 , RGD:6892938
NCBI chr 1:180,168,028...180,195,690
Ensembl chr 1:180,168,097...180,195,522
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Il23a
interleukin 23 subunit alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:33274957
NCBI chr 7:721,809...723,923
Ensembl chr 7:721,809...723,923
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Il25
interleukin 25
ISO
protein:increased expression:arm skin
RGD
PMID:23657503
RGD:39128244
NCBI chr15:28,408,766...28,412,157
Ensembl chr15:28,408,842...28,411,893
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Il31
interleukin 31
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18249437
NCBI chr12:33,095,108...33,105,026
Ensembl chr12:33,092,097...33,105,037
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Il33
interleukin 33
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18249437
NCBI chr 1:227,701,964...227,736,374
Ensembl chr 1:227,721,435...227,736,373
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Il4
interleukin 4
ISO ISS
DNA:SNP:promoter:-590C>T (human) protein:increased expression:serum CTD Direct Evidence: marker/mechanism OMIM:603165
CTD MouseDO RGD
PMID:11886533 PMID:12230500 PMID:18249437 PMID:9643293 PMID:8363440
RGD:7829786 , RGD:7829795
NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
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Il4r
interleukin 4 receptor
susceptibility
ISO
DNA:mutation:cds:p.Q576R(human)
RGD
PMID:9392697
RGD:11530001
NCBI chr 1:180,115,061...180,139,981
Ensembl chr 1:180,115,120...180,139,980
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Il5
interleukin 5
ISO
mRNA: increased expression: skin CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:11886533 PMID:18249437 PMID:33274957 PMID:22299064
RGD:5687175
NCBI chr10:37,874,342...37,877,213
Ensembl chr10:37,874,342...37,877,213
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Il6
interleukin 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18249437
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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Kcnj11
potassium inwardly-rectifying channel, subfamily J, member 11
ISO
ClinVar Annotator: match by term: Atopic eczema
ClinVar
NCBI chr 1:96,591,048...96,594,574
Ensembl chr 1:96,591,049...96,594,082
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Mapk8
mitogen-activated protein kinase 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24046278
NCBI chr16:8,638,897...8,721,960
Ensembl chr16:8,638,924...8,721,981
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Mbl2
mannose binding lectin 2
susceptibility
ISO
DNA:polymorphisms:promoter, exon:
RGD
PMID:20642202
RGD:8693720
NCBI chr 1:228,016,439...228,024,736
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Mc1r
melanocortin 1 receptor
ISO
protein: increased expression: skin
RGD
PMID:19889022
RGD:5687321
NCBI chr19:51,452,448...51,455,375
Ensembl chr19:51,453,239...51,454,192
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Mmp9
matrix metallopeptidase 9
treatment
ISO
RGD
PMID:27776525
RGD:13204759
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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Ms4a2
membrane spanning 4-domains A2
susceptibility
ISO
Atopy and bronchial hyperresponsiveness, OMIM:147050 Atopy and bronchial hyperresponsiveness, OMIM:147050 DNA:polymorphism:CDS:amino acid E237G
RGD
PMID:8817330 PMID:8817330
RGD:1599903 , RGD:1599903
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
susceptibility no_association
ISO
DNA:polymorphisms: :481C>T, 590G>A(human) DNA:polymorphisms: :481C>T,590G>A,857G>A(human)
RGD
PMID:16224574 PMID:14528063
RGD:8552664 , RGD:8552668
NCBI chr16:22,207,362...22,238,513
Ensembl chr16:22,208,194...22,238,520
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Nfkbia
NFKB inhibitor alpha
ISS
OMIM:603165
MouseDO
NCBI chr 6:72,858,713...72,861,941
Ensembl chr 6:72,858,712...72,861,941
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Nfkbiz
NFKB inhibitor zeta
ISS
OMIM:603165
MouseDO
NCBI chr11:44,782,676...44,810,722
Ensembl chr11:44,782,676...44,810,723
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Ngf
nerve growth factor
ISO
protein:increased expression:serum:
RGD
PMID:17073871
RGD:8657069
NCBI chr 2:189,901,058...189,954,452
Ensembl chr 2:189,901,058...189,954,452
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Ngfr
nerve growth factor receptor
ISO
protein:increased expression:nerve fibers of the papillary dermis (human)
RGD
PMID:16586073
RGD:5508452
NCBI chr10:80,515,287...80,533,518
Ensembl chr10:80,515,299...80,533,518
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Ntrk1
neurotrophic receptor tyrosine kinase 1
ISO
protein:increased expression:eosinophil
RGD
PMID:18647313 PMID:17223862
RGD:5144116 , RGD:5684771
NCBI chr 2:173,236,961...173,253,806
Ensembl chr 2:173,236,963...173,253,770
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Ovol1
ovo like transcriptional repressor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23042114
NCBI chr 1:202,855,261...202,868,858
Ensembl chr 1:202,855,265...202,866,831
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Ppara
peroxisome proliferator activated receptor alpha
ISO
potential therapeutic target with or without glucocorticoid therapy (mouse) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:18249437 PMID:21633371
RGD:5509940
NCBI chr 7:116,832,405...116,900,878
Ensembl chr 7:116,832,756...116,895,346
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Ppia
peptidylprolyl isomerase A
ISO
mRNA:increased expression:zone of skin (human)
RGD
PMID:32496587
RGD:150383342
NCBI chr14:81,279,292...81,282,960
Ensembl chr14:81,275,091...81,299,601
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Relb
RELB proto-oncogene, NF-kB subunit
ISO ISS
OMIM:603165
MouseDO RGD
PMID:10940923
RGD:7777149
NCBI chr 1:79,257,738...79,285,490
Ensembl chr 1:79,257,725...79,285,507
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S100a8
S100 calcium binding protein A8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18336422
NCBI chr 2:176,166,517...176,167,645
Ensembl chr 2:176,167,124...176,167,643
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Sele
selectin E
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12410700
NCBI chr13:76,402,841...76,412,741
Ensembl chr13:76,403,304...76,412,741
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Selp
selectin P
ISO
atopy and bronchial hyperresponsiveness, OMIM:147050
RGD
PMID:12929084
RGD:1599904
NCBI chr13:76,476,229...76,511,846
Ensembl chr13:76,476,295...76,511,845
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Sharpin
SHANK-associated RH domain interactor
ISS
OMIM:603165
MouseDO
NCBI chr 7:108,070,681...108,075,012
Ensembl chr 7:108,070,687...108,074,955
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Shoc2
SHOC2 leucine-rich repeat scaffold protein
ISO
associated with Noonan syndrome and related diseases; DNA:mutation:cds:c.4A>G (p.S2G)(human)
RGD
PMID:20882035
RGD:11071178
NCBI chr 1:252,958,939...253,048,820
Ensembl chr 1:252,959,723...253,047,337
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Slc11a1
solute carrier family 11 member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16597321
NCBI chr 9:75,957,193...75,968,115
Ensembl chr 9:75,957,316...75,968,101
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Stat6
signal transducer and activator of transcription 6
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:15306842
NCBI chr 7:63,480,229...63,497,551
Ensembl chr 7:63,479,642...63,498,495
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Tgfb1
transforming growth factor, beta 1
ISO
GAD RGD
PMID:15118671 PMID:11496247
RGD:1331525 , RGD:7394812
NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
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Tlr2
toll-like receptor 2
severity
ISO
DNA:polymorphism: :-16934A>T(human) DNA:polymorphism:cds:p.R753Q(human)
RGD
PMID:19627277 PMID:17531301 PMID:22032785
RGD:8552997 , RGD:8552999 , RGD:8553048
NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
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Tlr4
toll-like receptor 4
ISO
DNA:polymorphism: :896G>A(human) mRNA:increased expression:blood cell:
RGD
PMID:23821954 PMID:19764566
RGD:7794689 , RGD:7794745
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
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Tmem79
transmembrane protein 79
ISS
OMIM:603165
MouseDO
NCBI chr 2:173,798,267...173,803,151
Ensembl chr 2:173,798,267...173,803,046
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Tnf
tumor necrosis factor
susceptibility
ISO
DNA:haplotype:promoter:−308G>A,-238G>A(human)
RGD
PMID:22533231
RGD:7401246
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Tnfaip6
TNF alpha induced protein 6
ISO
mRNA:altered expression:fibroblast
RGD
PMID:16650051
RGD:7777183
NCBI chr 3:36,502,250...36,521,652
Ensembl chr 3:36,502,188...36,521,649
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Traf3ip2
Traf3 interacting protein 2
ISS
OMIM:603165
MouseDO
NCBI chr20:43,011,405...43,054,654
Ensembl chr20:43,011,450...43,054,667
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Trpv3
transient receptor potential cation channel, subfamily V, member 3
ISS
OMIM:603165
MouseDO
NCBI chr10:57,883,546...57,915,865
Ensembl chr10:57,883,546...57,913,296
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Tslp
thymic stromal lymphopoietin
treatment
ISO ISS
CTD Direct Evidence: marker/mechanism OMIM:603165
CTD MouseDO RGD
PMID:16880407 PMID:22355542 PMID:23688403 PMID:27869817 PMID:29310423
RGD:38549374
NCBI chr18:24,447,409...24,454,244
Ensembl chr18:24,449,844...24,453,548
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Vdr
vitamin D receptor
severity no_association
ISO
DNA:SNPs, haplotype: :rs731236, rs1544410, rs7975232 (human) DNA:SNP: :rs2228570 (human)
RGD
PMID:23034014 PMID:23034014
RGD:8157625 , RGD:8157625
NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677
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Vnn1
vanin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19322213
NCBI chr 1:21,537,084...21,547,395
Ensembl chr 1:21,537,094...21,547,395
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Wasl
WASP like actin nucleation promoting factor
ISS
OMIM:603165
MouseDO
NCBI chr 4:53,083,536...53,132,061
Ensembl chr 4:53,083,536...53,132,022
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Flg
filaggrin
susceptibility
ISO ISS
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Dermatitis, atopic, 2 | ClinVar Annotator: match by term: Dermatitis, atopic, 2, susceptibility to OMIM:605803
CTD OMIM ClinVar MouseDO
PMID:3163778 PMID:16444271 PMID:16550169 PMID:16815158 PMID:17030239 PMID:17291859 PMID:17417636 PMID:17502856 PMID:18325573 PMID:18396323 PMID:19183181 PMID:19501237 PMID:19785597 PMID:19839980 PMID:19874431 PMID:20674819 PMID:21039602 PMID:21377035 PMID:21514438 PMID:22403702 PMID:22407025 PMID:22951058 PMID:22995991 PMID:23039796 PMID:23301728 PMID:23947670 PMID:24033266 PMID:24077912 PMID:24565632 PMID:24608987 PMID:24920311 PMID:25314673 PMID:25741868 PMID:26451970 PMID:27279822 PMID:27363669 PMID:28143684 PMID:29428354 PMID:29444371 PMID:29791750 PMID:30665703 PMID:31365035 PMID:31637781 PMID:32066784 More...
NCBI chr 2:178,884,793...178,912,986
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