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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:Delayed Hypersensitivity
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Accession:DOID:9002605 term browser 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



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Delayed Hypersensitivity term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA1 ATP binding cassette subfamily A member 1 ISO ClinVar Annotator: match by term: Reduced delayed hypersensitivity ClinVar PMID:28492532 NCBI chr 9:75,948,831...76,096,136
Ensembl chr 9:104,076,516...104,224,188
JBrowse link
G ALB albumin ISO CTD Direct Evidence: marker/mechanism CTD PMID:19376187 NCBI chr 4:50,773,244...50,790,474
Ensembl chr 4:56,605,322...56,622,418
JBrowse link
G ANXA1 annexin A1 ISO RGD PMID:23267026 RGD:7421573 NCBI chr 9:51,647,404...51,665,990
Ensembl chr 9:71,929,728...71,948,779
JBrowse link
G BSCL2 BSCL2 lipid droplet biogenesis associated, seipin ISO ClinVar Annotator: match by term: Reduced delayed hypersensitivity ClinVar NCBI chr11:58,046,842...58,064,219
Ensembl chr11:61,399,314...61,416,494
JBrowse link
G CCL2 C-C motif chemokine ligand 2 ISO protein:increased expression:dermis, neutrophil (rat) RGD PMID:8774140 RGD:8549532 NCBI chr17:22,528,154...22,530,091
Ensembl chr17:22,820,890...22,823,384
JBrowse link
G CCR1 C-C motif chemokine receptor 1 ISO RGD PMID:16493073 RGD:5688154 NCBI chr 3:46,107,526...46,114,229
Ensembl chr 3:47,214,688...47,215,755
JBrowse link
G CD40 CD40 molecule ISO RGD PMID:15210767 RGD:7248442 NCBI chr20:42,455,711...42,467,139
Ensembl chr20:43,541,619...43,552,994
JBrowse link
G CTSS cathepsin S ISO RGD PMID:16631730 RGD:5687149 NCBI chr 1:126,084,249...126,118,221
Ensembl chr 1:129,733,996...129,768,318
JBrowse link
G CXCR3 C-X-C motif chemokine receptor 3 ISO RGD PMID:15884054 RGD:5143937 NCBI chr  X:60,880,759...60,883,355
Ensembl chr  X:70,933,160...70,935,756
JBrowse link
G FGF2 fibroblast growth factor 2 ISO RGD PMID:16507899 RGD:8554852 NCBI chr 4:115,005,136...115,076,369
Ensembl chr 4:126,149,813...126,214,942
JBrowse link
G GATA3 GATA binding protein 3 ISO mRNA, protein:increased expression:spleen RGD PMID:16336837 RGD:2314191 NCBI chr10:8,075,951...8,105,573
Ensembl chr10:8,064,207...8,086,272
JBrowse link
G GNG3 G protein subunit gamma 3 ISO ClinVar Annotator: match by term: Reduced delayed hypersensitivity ClinVar NCBI chr11:58,064,173...58,065,727
Ensembl chr11:61,416,381...61,418,002
JBrowse link
G HNF1A HNF1 homeobox A ISO ClinVar Annotator: match by term: Reduced delayed hypersensitivity ClinVar PMID:11938027 PMID:24033266 PMID:24728327 PMID:25741868 PMID:25887915 More... NCBI chr12:118,562,308...118,584,596
Ensembl chr12:121,932,671...121,955,911
JBrowse link
G ICAM1 intercellular adhesion molecule 1 ISO RGD PMID:8093459 RGD:8547692 NCBI chr19:9,821,402...9,837,021
Ensembl chr19:10,484,414...10,500,605
JBrowse link
G IFNG interferon gamma ISO RGD PMID:3139020 RGD:8157617 NCBI chr12:65,663,764...65,668,732
Ensembl chr12:68,448,861...68,453,829
JBrowse link
G IL13 interleukin 13 treatment ISO RGD PMID:19951958 RGD:8549563 NCBI chr 5:128,073,863...128,078,453
Ensembl chr 5:134,235,788...134,240,548
JBrowse link
G IL17A interleukin 17A ISO RGD PMID:19373578 RGD:4888523 NCBI chr 6:51,736,269...51,740,538
Ensembl chr 6:53,004,820...53,009,074
JBrowse link
G LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain ISO RGD PMID:9834080 RGD:5147666 NCBI chr 6:32,237,395...32,244,201
Ensembl chr 6:33,353,599...33,360,272
JBrowse link
allergic contact dermatitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA6 ATP binding cassette subfamily A member 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17374397 NCBI chr17:63,006,916...63,069,941
Ensembl chr17:68,396,083...68,458,795
JBrowse link
G ASRGL1 asparaginase and isoaspartyl peptidase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16033404 NCBI chr11:57,700,104...57,750,371
Ensembl chr11:61,056,817...61,107,485
JBrowse link
G BCL2 BCL2 apoptosis regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:16033404 NCBI chr18:56,481,212...56,679,012
Ensembl chr18:59,802,443...59,992,100
JBrowse link
G BMP6 bone morphogenetic protein 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17374397 NCBI chr 6:7,564,164...7,720,341
Ensembl chr 6:7,848,249...8,000,649
JBrowse link
G CALCRL calcitonin receptor like receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:17374397 NCBI chr2B:74,622,892...74,728,067
Ensembl chr2B:192,422,283...192,463,064
JBrowse link
G CASP8 caspase 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16033404 NCBI chr2B:88,490,611...88,542,132
Ensembl chr2B:206,669,544...206,696,468
JBrowse link
G CCL17 C-C motif chemokine ligand 17 ISO RGD PMID:15491423 RGD:1626251 NCBI chr16:37,678,518...37,689,350
Ensembl chr16:56,819,949...56,822,131
JBrowse link
G CCL19 C-C motif chemokine ligand 19 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17597826 NCBI chr 9:34,525,820...34,527,628
Ensembl chr 9:35,334,353...35,336,108
JBrowse link
G CCL5 C-C motif chemokine ligand 5 ISO protein:increased expression:ear (mouse) RGD PMID:15491423 RGD:1626251 NCBI chr17:20,915,198...20,923,530
Ensembl chr17:21,210,798...21,219,172
JBrowse link
G CCR1 C-C motif chemokine receptor 1 ISO RGD PMID:18844696 RGD:5688176 NCBI chr 3:46,107,526...46,114,229
Ensembl chr 3:47,214,688...47,215,755
JBrowse link
G CCR2 C-C motif chemokine receptor 2 ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:10899907 PMID:17374397 RGD:8661227 NCBI chr 3:46,255,725...46,263,285
Ensembl chr 3:47,361,124...47,368,312
JBrowse link
G CCR3 C-C motif chemokine receptor 3 ISO RGD PMID:22075493 RGD:6892916 NCBI chr 3:46,147,928...46,172,947
Ensembl chr 3:47,253,878...47,278,630
JBrowse link
G CCR5 C-C motif chemokine receptor 5 ISO mRNA:increased expression:skin, lymph node (rat) RGD PMID:16977379 RGD:2325935 NCBI chr 3:46,273,096...46,278,471
Ensembl chr 3:47,380,321...47,381,379
JBrowse link
G CD36 CD36 molecule (CD36 blood group) ISO CTD Direct Evidence: marker/mechanism CTD PMID:17374397 NCBI chr 7:72,566,478...72,643,517
Ensembl chr 7:86,265,114...86,305,865
JBrowse link
G CIDEC cell death inducing DFFA like effector c ISO CTD Direct Evidence: marker/mechanism CTD PMID:17374397 NCBI chr 3:9,811,995...9,836,069
Ensembl chr 3:10,048,554...10,173,107
JBrowse link
G CISH cytokine inducible SH2 containing protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:16033404 NCBI chr 3:50,531,870...50,537,319
Ensembl chr 3:51,769,194...51,774,548
JBrowse link
G CNTN3 contactin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17597826 NCBI chr 3:74,203,074...74,555,980
Ensembl chr 3:76,126,857...76,384,431
JBrowse link
G CREM cAMP responsive element modulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:17374397 NCBI chr10:35,247,426...35,335,545
Ensembl chr10:35,825,218...35,912,432
JBrowse link
G CTSC cathepsin C ISO CTD Direct Evidence: marker/mechanism CTD PMID:17374397 NCBI chr11:83,299,827...83,345,383
Ensembl chr11:86,890,010...86,933,847
JBrowse link
G CYP1A1 cytochrome P450 family 1 subfamily A member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11312644 PMID:19022366 NCBI chr15:53,664,968...53,672,277
Ensembl chr15:73,284,566...73,290,636
JBrowse link
G EMB embigin ISO CTD Direct Evidence: marker/mechanism CTD PMID:17374397 NCBI chr 5:63,590,589...63,635,167
Ensembl chr 5:65,204,168...65,247,182
JBrowse link
G ETS2 ETS proto-oncogene 2, transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:16033404 NCBI chr21:25,158,457...25,178,035
Ensembl chr21:38,512,835...38,527,651
JBrowse link
G F13A1 coagulation factor XIII A chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:17374397 NCBI chr 6:5,978,505...6,156,705
Ensembl chr 6:6,157,926...6,513,961
JBrowse link
G FGL2 fibrinogen like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17374397 NCBI chr 7:69,114,082...69,120,575
Ensembl chr 7:82,926,266...82,932,550
JBrowse link
G FLT1 fms related receptor tyrosine kinase 1 ISO mRNA:protein:skin: RGD PMID:7876550 RGD:7421586 NCBI chr13:9,584,850...9,779,542 JBrowse link
G FYB1 FYN binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16033404 NCBI chr 5:71,100,184...71,268,471 JBrowse link
G GRK2 G protein-coupled receptor kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16033404 NCBI chr11:62,624,647...62,644,846
Ensembl chr11:65,939,164...65,959,066
JBrowse link
G HSD11B1 hydroxysteroid 11-beta dehydrogenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16033404 NCBI chr 1:185,262,599...185,311,417
Ensembl chr 1:190,086,449...190,116,765
JBrowse link
G IFI30 IFI30 lysosomal thiol reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17597826 NCBI chr19:17,652,935...17,657,239
Ensembl chr19:18,629,663...18,635,046
JBrowse link
G IFNG interferon gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:11312644 PMID:12484431 PMID:15347381 NCBI chr12:65,663,764...65,668,732
Ensembl chr12:68,448,861...68,453,829
JBrowse link
G IGSF6 immunoglobulin superfamily member 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16033404 NCBI chr16:15,668,232...15,680,218
Ensembl chr16:87,989,104...88,000,632
JBrowse link
G IL10 interleukin 10 treatment ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:15347381 PMID:23760007 RGD:7364806 NCBI chr 1:182,369,234...182,374,207
Ensembl chr 1:186,648,289...186,653,371
JBrowse link
G IL18 interleukin 18 treatment ISO CTD Direct Evidence: marker/mechanism
mRNA:increased expression:skin
RGD
CTD
PMID:9781803 PMID:12874202 PMID:27585668 RGD:8655902 RGD:8655940 NCBI chr11:107,024,376...107,045,194
Ensembl chr11:110,867,586...110,888,371
JBrowse link
G IL18BP interleukin 18 binding protein treatment ISO RGD PMID:12874202 RGD:8655940 NCBI chr11:67,078,251...67,083,043
Ensembl chr11:70,302,923...70,307,511
JBrowse link
G IL1A interleukin 1 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:23178550 NCBI chr2A:89,273,482...89,284,421
Ensembl chr2A:113,784,854...113,795,801
JBrowse link
G IL2 interleukin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11312644 PMID:22245253 NCBI chr 4:114,637,328...114,642,586
Ensembl chr 4:125,782,563...125,787,984
JBrowse link
G IL2RA interleukin 2 receptor subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:16033404 NCBI chr10:6,053,549...6,103,863 JBrowse link
G IL32 interleukin 32 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17597826 NCBI chr16:2,007,018...2,023,757
Ensembl chr16:3,179,637...3,203,929
JBrowse link
G IL4 interleukin 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12484431 PMID:21804303 NCBI chr 5:128,091,342...128,099,886
Ensembl chr 5:134,253,039...134,261,581
JBrowse link
G IL5 interleukin 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15347381 NCBI chr 5:127,955,377...127,961,726
Ensembl chr 5:134,119,608...134,121,675
JBrowse link
G IPCEF1 interaction protein for cytohesin exchange factors 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17374397 NCBI chr 6:151,975,688...152,173,692 JBrowse link
G ITGAM integrin subunit alpha M ISO CTD Direct Evidence: marker/mechanism CTD PMID:16033404 NCBI chr16:23,634,476...23,707,147
Ensembl chr16:31,630,146...31,702,406
JBrowse link
G JAM2 junctional adhesion molecule 2 ISO RGD PMID:16297198 RGD:7488919 NCBI chr21:12,084,083...12,162,615
Ensembl chr21:25,441,765...25,519,304
JBrowse link
G JAM3 junctional adhesion molecule 3 ISO RGD PMID:16297198 RGD:7488919 NCBI chr11:128,916,024...129,006,497
Ensembl chr11:132,783,580...132,864,657
JBrowse link
G KDR kinase insert domain receptor ISO mRNA:protein:skin: RGD PMID:7876550 RGD:7421586 NCBI chr 4:68,813,894...68,861,018
Ensembl chr 4:75,377,375...75,427,109
JBrowse link
G KMO kynurenine 3-monooxygenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16033404 NCBI chr 1:217,094,037...217,157,827
Ensembl chr 1:222,075,268...222,138,866
JBrowse link
G LOC100974886 uncharacterized LOC100974886 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23178550 NCBI chr 4:50,092,989...50,095,541
Ensembl chr 4:55,925,562...55,986,555
JBrowse link
G LOC100979946 T-cell surface glycoprotein CD3 delta chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:17597826 NCBI chr11:113,174,007...113,179,244
Ensembl chr11:117,105,868...117,111,051
JBrowse link
G MC1R melanocortin 1 receptor ISO RGD PMID:20126537 RGD:5687319 NCBI chr16:70,676,447...70,697,636 JBrowse link
G MEOX1 mesenchyme homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16033404 NCBI chr17:13,733,235...13,756,584
Ensembl chr17:13,982,668...14,003,820
JBrowse link
G MKI67 marker of proliferation Ki-67 ISO RGD PMID:21294775 RGD:6483538 NCBI chr10:124,684,336...124,714,143
Ensembl chr10:128,936,037...128,962,555
JBrowse link
G MMP3 matrix metallopeptidase 3 ISO mRNA:increased expression:skin, lymph node RGD PMID:10359808 PMID:16977379 RGD:2325935 RGD:8693317 NCBI chr11:97,776,729...97,784,549
Ensembl chr11:101,267,566...101,275,354
JBrowse link
G 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 chr20:42,346,305...42,354,018
Ensembl chr20:43,432,389...43,440,129
JBrowse link
G MRC1 mannose receptor C-type 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16033404 NCBI chr10:18,128,280...18,230,438
Ensembl chr10:18,398,310...18,500,367
JBrowse link
G MXD1 MAX dimerization protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17374397 NCBI chr2A:69,957,798...70,002,615
Ensembl chr2A:71,074,998...71,102,838
JBrowse link
G NAMPT nicotinamide phosphoribosyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17374397 NCBI chr 7:98,227,071...98,262,254
Ensembl chr 7:110,952,876...110,981,967
JBrowse link
G NAT1 N-acetyltransferase 1 susceptibility ISO DNA:polymorphism: : RGD PMID:19663877 RGD:8552666 NCBI chr 8:17,425,852...17,439,684
Ensembl chr 8:14,386,481...14,392,462
JBrowse link
G NAT2 N-acetyltransferase 2 susceptibility ISO DNA:polymorphisms: : RGD PMID:16533241 RGD:8552663 NCBI chr 8:17,606,445...17,623,397
Ensembl chr 8:14,575,455...14,576,327
JBrowse link
G NFE2L2 NFE2 like bZIP transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23564646 NCBI chr2B:64,509,446...64,544,600
Ensembl chr2B:182,214,116...182,248,085
JBrowse link
G NINJ1 ninjurin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17374397 NCBI chr 9:64,245,086...64,258,614
Ensembl chr 9:92,311,502...92,324,030
JBrowse link
G NUMA1 nuclear mitotic apparatus protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16033404 NCBI chr11:67,083,378...67,160,747
Ensembl chr11:70,307,847...70,384,425
JBrowse link
G OGG1 8-oxoguanine DNA glycosylase ISO RGD PMID:15677345 RGD:8657146 NCBI chr 3:9,702,311...9,742,283
Ensembl chr 3:9,940,955...9,947,335
JBrowse link
G PHLDA1 pleckstrin homology like domain family A member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17374397 NCBI chr12:73,530,456...73,543,951
Ensembl chr12:76,387,313...76,388,502
JBrowse link
G PIM1 Pim-1 proto-oncogene, serine/threonine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16033404 NCBI chr 6:36,730,669...36,735,954 JBrowse link
G PLAT plasminogen activator, tissue type ISO CTD Direct Evidence: marker/mechanism CTD PMID:17374397 NCBI chr 8:41,419,415...41,451,951
Ensembl chr 8:38,864,918...38,897,779
JBrowse link
G PRDX4 peroxiredoxin 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16033404 NCBI chr  X:16,266,501...16,285,458
Ensembl chr  X:23,641,701...23,660,267
JBrowse link
G QPCT glutaminyl-peptide cyclotransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16033404 NCBI chr2A:37,371,848...37,400,820
Ensembl chr2A:38,136,532...38,165,254
JBrowse link
G RAB32 RAB32, member RAS oncogene family ISO CTD Direct Evidence: marker/mechanism CTD PMID:17374397 NCBI chr 6:144,339,323...144,354,885 JBrowse link
G RGS1 regulator of G protein signaling 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17374397 NCBI chr 1:168,039,235...168,043,516
Ensembl chr 1:172,333,866...172,337,401
JBrowse link
G SAT1 spermidine/spermine N1-acetyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17374397 NCBI chr  X:16,382,735...16,385,790
Ensembl chr  X:23,756,691...23,760,349
JBrowse link
G SELE selectin E ISO CTD Direct Evidence: marker/mechanism CTD PMID:17597826 NCBI chr 1:145,205,684...145,217,143
Ensembl chr 1:148,930,437...148,938,313
JBrowse link
G SLC2A3 solute carrier family 2 member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17374397 NCBI chr12:8,045,058...8,062,116
Ensembl chr12:8,408,457...8,423,466
JBrowse link
G SLC7A5 solute carrier family 7 member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17374397 NCBI chr16:68,512,407...68,552,763 JBrowse link
G SOCS1 suppressor of cytokine signaling 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16033404 NCBI chr16:10,196,432...10,198,205 JBrowse link
G SOCS2 suppressor of cytokine signaling 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16033404 NCBI chr12:91,115,319...91,134,191
Ensembl chr12:94,514,455...94,520,748
JBrowse link
G SPP1 secreted phosphoprotein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14555839 NCBI chr 4:80,263,711...80,271,466
Ensembl chr 4:90,988,200...90,995,935
JBrowse link
G ST6GAL1 ST6 beta-galactoside alpha-2,6-sialyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16033404 NCBI chr 3:183,955,462...184,104,537
Ensembl chr 3:192,488,087...192,569,970
JBrowse link
G STAC SH3 and cysteine rich domain ISO CTD Direct Evidence: marker/mechanism CTD PMID:16033404 NCBI chr 3:36,287,485...36,457,151
Ensembl chr 3:36,578,543...36,747,971
JBrowse link
G TAP2 transporter 2, ATP binding cassette subfamily B member susceptibility ISO RGD PMID:9303338 RGD:6482276 NCBI chr 6:32,394,586...32,408,297
Ensembl chr 6:33,507,332...33,523,750
JBrowse link
G TLR4 toll like receptor 4 ISO RGD PMID:18725520 PMID:20711192 RGD:7777133 RGD:7794737 NCBI chr 9:88,827,495...88,840,458
Ensembl chr 9:117,180,550...117,190,711
JBrowse link
G TLR7 toll like receptor 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16033404 NCBI chr  X:5,479,247...5,504,810
Ensembl chr  X:12,767,981...12,790,517
JBrowse link
G TMSB10 thymosin beta 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17597826 NCBI chr2A:84,958,267...84,959,382
Ensembl chr2A:86,517,393...86,517,799
JBrowse link
G TNF tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:15849067 NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381
JBrowse link
G TNFAIP6 TNF alpha induced protein 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16033404 PMID:17374397 NCBI chr2B:38,669,652...38,692,037
Ensembl chr2B:155,933,842...155,956,382
JBrowse link
G TSLP thymic stromal lymphopoietin treatment ISO RGD PMID:30187507 RGD:38596345 NCBI chr 5:106,440,136...106,446,849
Ensembl chr 5:112,242,490...112,250,130
JBrowse link
G UPP1 uridine phosphorylase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16033404 NCBI chr 7:48,729,975...48,749,598
Ensembl chr 7:48,838,893...48,858,185
JBrowse link
G VEGFA vascular endothelial growth factor A ISO mRNA:protein:skin: RGD PMID:7876550 RGD:7421586 NCBI chr 6:43,361,053...43,377,366
Ensembl chr 6:44,650,365...44,666,353
JBrowse link
atopic dermatitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTL9 actin like 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23042114 NCBI chr19:7,992,891...7,994,357
Ensembl chr19:8,837,899...8,839,149
JBrowse link
G ADAM17 ADAM metallopeptidase domain 17 ISO OMIM:603165 MouseDO NCBI chr2A:9,478,080...9,545,363
Ensembl chr2A:9,641,201...9,708,054
JBrowse link
G AHR aryl hydrocarbon receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:27869817 NCBI chr 7:17,949,254...17,998,737
Ensembl chr 7:17,278,637...17,326,171
JBrowse link
G APOE apolipoprotein E ISO protein:decreased expression:plasma RGD PMID:19116453 RGD:11040546 NCBI chr19:41,853,669...41,857,252
Ensembl chr19:50,459,906...50,463,490
JBrowse link
G ARTN artemin ISO CTD Direct Evidence: marker/mechanism CTD PMID:27869817 NCBI chr 1:43,233,097...43,239,044 JBrowse link
G BDNF brain derived neurotrophic factor susceptibility
no_association
ISO protein:increased expression:serum:
mRNA:decreased expression:mast cell
DNA:polymorphism::C270T(human)
DNA:polymorphism:cds:p.V66M(human)
RGD PMID:17073871 PMID:17845420 PMID:19038326 PMID:19522715 RGD:8657028 RGD:8657065 RGD:8657067 RGD:8657069 NCBI chr11:27,618,322...27,687,661
Ensembl chr11:27,520,312...27,589,239
JBrowse link
G C3 complement C3 ISO protein:increased expression:plasma RGD PMID:3923750 RGD:7401273 NCBI chr19:5,708,211...5,753,178
Ensembl chr19:6,629,287...6,674,699
JBrowse link
G CARD11 caspase recruitment domain family member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23042114 PMID:28628108 NCBI chr 7:3,166,788...3,304,729
Ensembl chr 7:3,258,736...3,332,999
JBrowse link
G CASP8 caspase 8 ISO OMIM:603165 MouseDO NCBI chr2B:88,490,611...88,542,132
Ensembl chr2B:206,669,544...206,696,468
JBrowse link
G CCDC80 coiled-coil domain containing 80 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23042114 NCBI chr 3:109,753,743...109,789,769
Ensembl chr 3:116,678,161...116,712,611
JBrowse link
G CCL17 C-C motif chemokine ligand 17 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18249437 NCBI chr16:37,678,518...37,689,350
Ensembl chr16:56,819,949...56,822,131
JBrowse link
G CCL20 C-C motif chemokine ligand 20 treatment
severity
ISO protein:increased expression:plasma RGD PMID:11133838 PMID:19162238 RGD:7483580 RGD:7483583 NCBI chr2B:115,052,768...115,056,479
Ensembl chr2B:233,862,505...233,866,225
JBrowse link
G CCL22 C-C motif chemokine ligand 22 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18249437 PMID:22125604 NCBI chr16:37,631,861...37,640,208
Ensembl chr16:56,765,367...56,771,213
JBrowse link
G CCL24 C-C motif chemokine ligand 24 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18249437 NCBI chr 7:68,206,688...68,210,343
Ensembl chr 7:82,263,310...82,265,480
JBrowse link
G CCL26 C-C motif chemokine ligand 26 ISO protein:increased expression:serum (human) RGD PMID:14616792 RGD:11087554 NCBI chr 7:68,230,804...68,251,369
Ensembl chr 7:82,221,846...82,242,874
JBrowse link
G CCL27 C-C motif chemokine ligand 27 ISO RGD PMID:12642842 RGD:1626250 NCBI chr 9:34,498,478...34,501,475
Ensembl chr 9:35,307,175...35,308,146
JBrowse link
G CCL28 C-C motif chemokine ligand 28 severity ISO associated with Asthma; protein: increased secretion:serum (human) RGD PMID:20161852 RGD:4892193 NCBI chr 5:66,977,643...66,998,420
Ensembl chr 5:72,012,579...72,046,031
JBrowse link
G CCL5 C-C motif chemokine ligand 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18249437 NCBI chr17:20,915,198...20,923,530
Ensembl chr17:21,210,798...21,219,172
JBrowse link
G CCR2 C-C motif chemokine receptor 2 ISO protein:increased expression:skin,monocyte: RGD PMID:15370700 RGD:8661734 NCBI chr 3:46,255,725...46,263,285
Ensembl chr 3:47,361,124...47,368,312
JBrowse link
G CCR3 C-C motif chemokine receptor 3 ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:skin
CTD
RGD
PMID:16449815 PMID:18249437 RGD:6893391 NCBI chr 3:46,147,928...46,172,947
Ensembl chr 3:47,253,878...47,278,630
JBrowse link
G CCR5 C-C motif chemokine receptor 5 ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:16449815 PMID:18249437 RGD:6893391 NCBI chr 3:46,273,096...46,278,471
Ensembl chr 3:47,380,321...47,381,379
JBrowse link
G CD40 CD40 molecule ISO RGD PMID:18693155 RGD:5132274 NCBI chr20:42,455,711...42,467,139
Ensembl chr20:43,541,619...43,552,994
JBrowse link
G CDSN corneodesmosin ISO protein:decreased expression:skin of body (human) RGD PMID:21211653 RGD:42721970 NCBI chr 6:30,861,199...30,867,082
Ensembl chr 6:31,727,090...31,731,976
JBrowse link
G CLDN1 claudin 1 ISO mRNA,protein:decreased expression:epidermis: RGD PMID:21163515 RGD:11344875 NCBI chr 3:187,328,629...187,345,360
Ensembl chr 3:195,882,239...195,899,248
JBrowse link
G CLDN23 claudin 23 ISO mRNA:decreased expression:epidermis: RGD PMID:21163515 RGD:11344875 NCBI chr 8:10,510,323...10,512,467 JBrowse link
G CMA1 chymase 1 ISO DNA:polymorphism:5' utr:g.-1903G>A rs1800875 (human) RGD PMID:16134991 RGD:1625394 NCBI chr14:5,277,269...5,280,335
Ensembl chr14:23,400,345...23,403,548
JBrowse link
G 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 chr2B:91,054,917...91,106,234
Ensembl chr2B:209,239,417...209,244,498
JBrowse link
G CTSE cathepsin E ISO OMIM:603165 MouseDO NCBI chr 1:181,617,421...181,632,260
Ensembl chr 1:185,900,746...185,915,519
JBrowse link
G CX3CL1 C-X3-C motif chemokine ligand 1 ISO protein:increased expression:serum RGD PMID:15131578 RGD:9491761 NCBI chr16:37,646,447...37,659,078
Ensembl chr16:56,779,065...56,791,760
JBrowse link
G CX3CR1 C-X3-C motif chemokine receptor 1 ISO protein:decreased expression:blood, leukocyte RGD PMID:15131578 PMID:24821910 RGD:9491393 RGD:9491761 NCBI chr 3:39,158,346...39,176,604
Ensembl chr 3:39,440,955...39,457,219
JBrowse link
G CXCL10 C-X-C motif chemokine ligand 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18249437 NCBI chr 4:48,182,355...48,184,733
Ensembl chr 4:54,020,204...54,022,606
JBrowse link
G CXCR3 C-X-C motif chemokine receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18249437 NCBI chr  X:60,880,759...60,883,355
Ensembl chr  X:70,933,160...70,935,756
JBrowse link
G CYP1A1 cytochrome P450 family 1 subfamily A member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27869817 NCBI chr15:53,664,968...53,672,277
Ensembl chr15:73,284,566...73,290,636
JBrowse link
G CYP4F22 cytochrome P450 family 4 subfamily F member 22 ISO ClinVar Annotator: match by term: Atopic eczema ClinVar PMID:25741868 NCBI chr19:15,039,212...15,083,771
Ensembl chr19:16,041,583...16,068,490
JBrowse link
G DOCK8 dedicator of cytokinesis 8 ISO DNA:mutations:cds: RGD PMID:22476911 RGD:40903056 NCBI chr 9:6,791...256,837
Ensembl chr 9:201,156...446,910
JBrowse link
G EMSY EMSY transcriptional repressor, BRCA2 interacting ISO CTD Direct Evidence: marker/mechanism CTD PMID:23042114 NCBI chr11:71,496,577...71,604,230 JBrowse link
G F2 coagulation factor II, thrombin ISO protein:increased expression:plasma RGD PMID:21488867 RGD:5147756 NCBI chr11:46,669,925...46,690,391
Ensembl chr11:47,227,891...47,249,157
JBrowse link
G FLG filaggrin ISO ClinVar Annotator: match by term: Atopic eczema ClinVar PMID:3163778 PMID:16444271 PMID:16550169 PMID:16815158 PMID:17030239 More... NCBI chr 1:127,634,416...127,649,659 JBrowse link
G GLB1 galactosidase beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23042114 NCBI chr 3:32,892,039...33,031,959
Ensembl chr 3:33,231,209...33,336,804
JBrowse link
G GSTM1 glutathione S-transferase mu 1 susceptibility ISO DNA:deletion: : RGD PMID:20674822 PMID:21176116 RGD:5490539 RGD:5490981 Ensembl chr 1:127,979,238...128,010,411 JBrowse link
G 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 chr11:62,942,756...62,945,701
Ensembl chr11:66,253,421...66,256,472
JBrowse link
G HAVCR1 hepatitis A virus cellular receptor 1 ISO RGD PMID:16159638 RGD:5128852 NCBI chr 5:152,429,337...152,459,800
Ensembl chr 5:158,413,073...158,442,481
JBrowse link
G HNMT histamine N-methyltransferase ISO RGD PMID:19025430 RGD:5128889 NCBI chr2B:21,840,342...21,892,744
Ensembl chr2B:142,036,321...142,088,315
JBrowse link
G IFNG interferon gamma ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:18249437 PMID:22101570 PMID:33274957 RGD:8157618 NCBI chr12:65,663,764...65,668,732
Ensembl chr12:68,448,861...68,453,829
JBrowse link
G IFNL3 interferon lambda 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22295096 NCBI chr19:36,341,396...36,343,261 JBrowse link
G IL10 interleukin 10 treatment ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:18249437 PMID:23843958 RGD:7364805 NCBI chr 1:182,369,234...182,374,207
Ensembl chr 1:186,648,289...186,653,371
JBrowse link
G IL13 interleukin 13 severity
treatment
ISO DNA, protein:SNP, increased expression:promoter, serum:-1112C>T (human)
OMIM:603165
DNA:SNP:exon:4257G>A (human)
CTD Direct Evidence: marker/mechanism
DNA:SNPs: :rs3091307, rs20541 (human)
RGD
MouseDO
CTD
PMID:10887320 PMID:16672002 PMID:17313488 PMID:18249437 PMID:19006098 More... RGD:5684364 RGD:8549509 RGD:8549529 RGD:8549531 RGD:8549539 RGD:8549583 NCBI chr 5:128,073,863...128,078,453
Ensembl chr 5:134,235,788...134,240,548
JBrowse link
G IL13RA1 interleukin 13 receptor subunit alpha 1 ISO mRNA:increased expression:skin RGD PMID:14527737 RGD:8549525 NCBI chr  X:107,735,233...107,813,282
Ensembl chr  X:118,202,285...118,266,770
JBrowse link
G IL13RA2 interleukin 13 receptor subunit alpha 2 ISO protein:increased expression:serum RGD PMID:20971924 PMID:21462799 RGD:8549521 RGD:8549556 NCBI chr  X:104,092,993...104,146,062
Ensembl chr  X:114,597,077...114,635,253
JBrowse link
G IL17A interleukin 17A severity
treatment
ISO protein:increased expression:dermis, lymphocyte (human)
protein:increased expression:epidermis (mouse)
RGD PMID:18432274 PMID:22848348 PMID:24337738 RGD:8698670 RGD:9068417 RGD:9068436 NCBI chr 6:51,736,269...51,740,538
Ensembl chr 6:53,004,820...53,009,074
JBrowse link
G IL18 interleukin 18 severity
no_association
ISO DNA:SNP:promoter:-140C>G (rs360721) (human)
OMIM:603165
protein:increased expression:serum
DNA:SNP:promoter:-137G>C (rs187238) (human)
DNA:SNPs, haplotype: :rs795467, rs4937113, rs5744247 (human)
RGD
MouseDO
PMID:11490156 PMID:15317323 PMID:17517100 PMID:22840759 RGD:8655872 RGD:8655876 RGD:8655908 RGD:8655914 NCBI chr11:107,024,376...107,045,194
Ensembl chr11:110,867,586...110,888,371
JBrowse link
G IL1B interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:18249437 NCBI chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424
JBrowse link
G IL2 interleukin 2 susceptibility ISO associated with food hypersensitivity;
protein:increased expression:CD8+ T cell:
DNA:SNP:promoter:rs2069762(human)
RGD PMID:1673687 PMID:7547077 PMID:16333313 PMID:16672002 PMID:21982597 RGD:8549583 RGD:8662961 RGD:8663444 RGD:8663473 RGD:8693325 NCBI chr 4:114,637,328...114,642,586
Ensembl chr 4:125,782,563...125,787,984
JBrowse link
G IL21R interleukin 21 receptor ISO protein:increased expression:skin RGD PMID:19075398 RGD:6892938 Ensembl chr16:27,774,864...27,821,769 JBrowse link
G IL23A interleukin 23 subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:33274957 NCBI chr12:32,575,321...32,576,856
Ensembl chr12:32,828,902...32,830,617
JBrowse link
G IL25 interleukin 25 ISO protein:increased expression:arm skin RGD PMID:23657503 RGD:39128244 NCBI chr14:4,191,888...4,195,043
Ensembl chr14:22,286,347...22,289,498
JBrowse link
G IL31 interleukin 31 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18249437 NCBI chr12:119,773,030...119,775,963
Ensembl chr12:123,140,531...123,142,700
JBrowse link
G IL32 interleukin 32 ISO mRNA:splice variant:zone of skin (human) RGD PMID:28301691 RGD:150340720 NCBI chr16:2,007,018...2,023,757
Ensembl chr16:3,179,637...3,203,929
JBrowse link
G IL33 interleukin 33 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18249437 NCBI chr 9:6,027,014...6,069,540
Ensembl chr 9:6,234,178...6,248,624
JBrowse link
G IL4 interleukin 4 ISO DNA:SNP:promoter:-590C>T (human)
OMIM:603165
CTD Direct Evidence: marker/mechanism
protein:increased expression:serum
RGD
MouseDO
CTD
PMID:8363440 PMID:9643293 PMID:11886533 PMID:12230500 PMID:18249437 RGD:7829786 RGD:7829795 NCBI chr 5:128,091,342...128,099,886
Ensembl chr 5:134,253,039...134,261,581
JBrowse link
G IL4R interleukin 4 receptor susceptibility ISO DNA:mutation:cds:p.Q576R(human) RGD PMID:9392697 RGD:11530001 Ensembl chr16:27,642,702...27,737,445 JBrowse link
G IL5 interleukin 5 ISO mRNA: increased expression: skin
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:11886533 PMID:18249437 PMID:22299064 PMID:33274957 RGD:5687175 NCBI chr 5:127,955,377...127,961,726
Ensembl chr 5:134,119,608...134,121,675
JBrowse link
G IL6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18249437 NCBI chr 7:23,415,922...23,420,767 JBrowse link
G KCNJ11 potassium inwardly rectifying channel subfamily J member 11 ISO ClinVar Annotator: match by term: Atopic eczema ClinVar NCBI chr11:17,440,522...17,444,075
Ensembl chr11:17,127,557...17,128,729
JBrowse link
G LOC100980531 eotaxin ISO CTD Direct Evidence: marker/mechanism CTD PMID:18249437 NCBI chr17:22,495,737...22,515,144
Ensembl chr17:22,806,076...22,808,345
Ensembl chr17:22,806,076...22,808,345
JBrowse link
G LOC100991644 low affinity immunoglobulin gamma Fc region receptor II-a severity ISO protein:increased expression:eosinophil RGD PMID:7564170 RGD:5147985 NCBI chr 1:136,892,311...136,906,450 JBrowse link
G MAPK8 mitogen-activated protein kinase 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24046278 NCBI chr10:45,806,748...45,936,362 JBrowse link
G MBL2 mannose binding lectin 2 susceptibility ISO DNA:polymorphisms:promoter, exon: RGD PMID:20642202 RGD:8693720 NCBI chr10:49,401,364...49,409,328
Ensembl chr10:51,527,758...51,543,432
JBrowse link
G MC1R melanocortin 1 receptor ISO protein: increased expression: skin RGD PMID:19889022 RGD:5687321 NCBI chr16:70,676,447...70,697,636 JBrowse link
G MMP9 matrix metallopeptidase 9 treatment ISO RGD PMID:27776525 RGD:13204759 NCBI chr20:42,346,305...42,354,018
Ensembl chr20:43,432,389...43,440,129
JBrowse link
G 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 chr11:55,318,843...55,326,779
Ensembl chr11:58,764,911...58,772,567
JBrowse link
G NAT2 N-acetyltransferase 2 no_association
susceptibility
ISO DNA:polymorphisms: :481C>T,590G>A,857G>A(human)
DNA:polymorphisms: :481C>T, 590G>A(human)
RGD PMID:14528063 PMID:16224574 RGD:8552664 RGD:8552668 NCBI chr 8:17,606,445...17,623,397
Ensembl chr 8:14,575,455...14,576,327
JBrowse link
G NFKBIA NFKB inhibitor alpha ISO OMIM:603165 MouseDO NCBI chr14:16,155,331...16,158,588 JBrowse link
G NFKBIZ NFKB inhibitor zeta ISO OMIM:603165 MouseDO NCBI chr 3:98,914,957...98,948,467
Ensembl chr 3:105,616,645...105,628,300
JBrowse link
G NGF nerve growth factor ISO protein:increased expression:serum: RGD PMID:17073871 RGD:8657069 NCBI chr 1:87,223,597...87,276,759 JBrowse link
G NGFR nerve growth factor receptor ISO protein:increased expression:nerve fibers of the papillary dermis RGD PMID:16586073 RGD:5508452 NCBI chr17:8,089,600...8,109,361
Ensembl chr17:8,075,316...8,094,966
JBrowse link
G NTRK1 neurotrophic receptor tyrosine kinase 1 ISO protein:increased expression:eosinophil RGD PMID:17223862 PMID:18647313 RGD:5144116 RGD:5684771 Ensembl chr 1:136,007,476...136,047,355 JBrowse link
G OVOL1 ovo like transcriptional repressor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23042114 NCBI chr11:61,144,969...61,156,706
Ensembl chr11:64,478,549...64,488,647
JBrowse link
G 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 Ensembl chr22:45,218,364...45,302,970 JBrowse link
G PPIA peptidylprolyl isomerase A ISO mRNA:increased expression:zone of skin (human) RGD PMID:32496587 RGD:150383342 NCBI chr 7:45,510,450...45,515,448
Ensembl chr 7:45,578,765...45,605,545
JBrowse link
G RELB RELB proto-oncogene, NF-kB subunit ISO OMIM:603165 RGD
MouseDO
PMID:10940923 RGD:7777149 NCBI chr19:41,948,559...41,987,121
Ensembl chr19:50,554,864...50,590,223
JBrowse link
G S100A8 S100 calcium binding protein A8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18336422 NCBI chr 1:128,741,378...128,742,520
Ensembl chr 1:132,370,435...132,371,591
JBrowse link
G SELE selectin E ISO CTD Direct Evidence: marker/mechanism CTD PMID:12410700 NCBI chr 1:145,205,684...145,217,143
Ensembl chr 1:148,930,437...148,938,313
JBrowse link
G SELP selectin P ISO atopy and bronchial hyperresponsiveness, OMIM:147050 DNA:point_mutation:CDS:amino acid Val640Leu RGD PMID:12929084 RGD:1599904 NCBI chr 1:145,071,094...145,112,851
Ensembl chr 1:148,793,677...148,834,701
JBrowse link
G SHARPIN SHANK associated RH domain interactor ISO OMIM:603165 MouseDO NCBI chr 8:140,865,009...140,870,580
Ensembl chr 8:143,854,902...143,862,888
JBrowse link
G 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 chr10:107,512,795...107,606,627
Ensembl chr10:110,993,556...111,055,312
JBrowse link
G SLC11A1 solute carrier family 11 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16597321 NCBI chr2B:105,640,613...105,655,524
Ensembl chr2B:224,238,284...224,252,941
JBrowse link
G STAT6 signal transducer and activator of transcription 6 ISO CTD Direct Evidence: therapeutic CTD PMID:15306842 Ensembl chr12:32,068,679...32,085,099 JBrowse link
G TGFB1 transforming growth factor beta 1 ISO RGD PMID:11496247 RGD:7394812 NCBI chr19:38,324,009...38,347,003
Ensembl chr19:46,831,659...46,852,973
JBrowse link
G TLR2 toll like receptor 2 severity ISO DNA:polymorphism: :-16934A>T(human)
DNA:polymorphism:cds:p.R753Q(human)
RGD PMID:17531301 PMID:19627277 PMID:22032785 RGD:8552997 RGD:8552999 RGD:8553048 NCBI chr 4:146,024,653...146,091,388
Ensembl chr 4:157,866,977...157,869,331
JBrowse link
G TLR4 toll like receptor 4 ISO DNA:polymorphism: :896G>A(human)
mRNA:increased expression:blood cell:
RGD PMID:19764566 PMID:23821954 RGD:7794689 RGD:7794745 NCBI chr 9:88,827,495...88,840,458
Ensembl chr 9:117,180,550...117,190,711
JBrowse link
G TMEM79 transmembrane protein 79 ISO OMIM:603165 MouseDO NCBI chr 1:131,625,864...131,635,370
Ensembl chr 1:135,455,766...135,465,426
JBrowse link
G TNF tumor necrosis factor susceptibility ISO DNA:haplotype:promoter:−308G>A,-238G>A(human) RGD PMID:22533231 RGD:7401246 NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381
JBrowse link
G TNFAIP6 TNF alpha induced protein 6 ISO mRNA:altered expression:fibroblast RGD PMID:16650051 RGD:7777183 NCBI chr2B:38,669,652...38,692,037
Ensembl chr2B:155,933,842...155,956,382
JBrowse link
G TRAF3IP2 TRAF3 interacting protein 2 ISO OMIM:603165 MouseDO NCBI chr 6:109,367,333...109,414,601
Ensembl chr 6:113,444,005...113,485,533
JBrowse link
G TRPV3 transient receptor potential cation channel subfamily V member 3 ISO OMIM:603165 MouseDO NCBI chr17:3,528,734...3,577,162
Ensembl chr17:3,516,209...3,603,787
JBrowse link
G TSLP thymic stromal lymphopoietin treatment ISO CTD Direct Evidence: marker/mechanism
OMIM:603165
CTD
MouseDO
RGD
PMID:16880407 PMID:22355542 PMID:23688403 PMID:27869817 PMID:29310423 RGD:38549374 NCBI chr 5:106,440,136...106,446,849
Ensembl chr 5:112,242,490...112,250,130
JBrowse link
G VDR vitamin D receptor no_association
severity
ISO DNA:SNP: :rs2228570 (human)
DNA:SNPs, haplotype: :rs731236, rs1544410, rs7975232 (human)
RGD PMID:23034014 RGD:8157625 NCBI chr12:40,828,413...40,891,700
Ensembl chr12:41,702,742...41,766,192
JBrowse link
G VNN1 vanin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19322213 NCBI chr 6:130,459,268...130,491,167
Ensembl chr 6:134,566,117...134,598,784
JBrowse link
G VNN2 vanin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19322213 NCBI chr 6:130,521,698...130,535,944
Ensembl chr 6:134,629,464...134,643,934
JBrowse link
G WASL WASP like actin nucleation promoting factor ISO OMIM:603165 MouseDO NCBI chr 7:115,675,170...115,741,498
Ensembl chr 7:128,360,495...128,385,393
JBrowse link
atopic dermatitis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FLG filaggrin ISO ClinVar Annotator: match by term: Dermatitis, atopic, 2 | ClinVar Annotator: match by term: Dermatitis, atopic, 2, susceptibility to OMIM
ClinVar
PMID:3163778 PMID:16444271 PMID:16550169 PMID:16815158 PMID:17030239 More... NCBI chr 1:127,634,416...127,649,659 JBrowse link
Fanconi-like syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLX1A SLX1 homolog A, structure-specific endonuclease subunit ISO OMIM:227850 MouseDO
G SLX4 SLX4 structure-specific endonuclease subunit ISO OMIM:227850 MouseDO NCBI chr16:2,502,334...2,532,172
Ensembl chr16:3,678,018...3,707,842
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15685
    disease of anatomical entity 15296
      immune system disease 4401
        allergic disease 596
          Delayed Hypersensitivity 180
            Fanconi-like syndrome 2
            allergic contact dermatitis + 166
Path 2
Term Annotations click to browse term
  disease 15685
    disease of anatomical entity 15296
      Immune & Inflammatory Diseases 5054
        immune system disease 4401
          allergic disease 596
            Delayed Hypersensitivity 180
              Fanconi-like syndrome 2
              allergic contact dermatitis + 166
paths to the root