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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:dermatitis
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Accession:DOID:2723 term browser browse the term
Definition:Any inflammation of the skin.
Synonyms:exact_synonym: Dermatitides;   skin inflammation
 primary_id: MESH:D003872
 alt_id: RDO:0002780
 xref: ICD10CM:L30.9;   NCI:C2983
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
dermatitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adrb2 adrenoceptor beta 2 susceptibility ISO DNA:polymorphism:cds:p.Q27E(human) RGD PMID:16955193 RGD:8548494 NCBI chr18:57,513,792...57,515,834
Ensembl chr18:57,513,793...57,515,834
JBrowse link
G Clock clock circadian regulator ISO RGD PMID:21149897 RGD:10401871 NCBI chr14:34,418,226...34,502,218
Ensembl chr14:34,446,616...34,502,218
JBrowse link
G Csk C-terminal Src kinase ISO RGD PMID:14975240 RGD:5134363 NCBI chr 8:62,405,714...62,424,707
Ensembl chr 8:62,405,715...62,424,303
JBrowse link
G Cxcl12 C-X-C motif chemokine ligand 12 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27206134 NCBI chr 4:149,261,044...149,273,891
Ensembl chr 4:149,261,044...149,273,891
JBrowse link
G Dsg1 desmoglein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23974871 NCBI chr18:12,008,301...12,040,337
Ensembl chr18:12,008,759...12,038,053
JBrowse link
G Egf epidermal growth factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:27206134 NCBI chr 2:68,820,616...68,895,537 JBrowse link
G Egfr epidermal growth factor receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:27206134 NCBI chr14:99,919,485...100,104,136
Ensembl chr14:99,919,485...100,098,796
JBrowse link
G Fgf2 fibroblast growth factor 2 ISO RGD PMID:16507899 RGD:8554852 NCBI chr 2:124,081,072...124,134,133
Ensembl chr 2:124,081,072...124,134,681
JBrowse link
G Flg filaggrin ISO CTD Direct Evidence: marker/mechanism CTD PMID:31330126 NCBI chr 2:193,565,401...193,574,297 JBrowse link
G Foxp3 forkhead box P3 ISO RGD PMID:22466646 RGD:38549359 NCBI chr  X:15,753,175...15,768,648
Ensembl chr  X:15,753,175...15,768,522
JBrowse link
G Hcn2 hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2 IEP protein:increased expression:dorsal root ganglion: RGD PMID:23236374 RGD:9686396 NCBI chr 7:12,851,730...12,870,087
Ensembl chr 7:12,851,739...12,874,215
JBrowse link
G Icam1 intercellular adhesion molecule 1 treatment ISO RGD PMID:9366707 RGD:8547708 NCBI chr 8:22,035,287...22,047,049
Ensembl chr 8:22,035,256...22,047,059
JBrowse link
G Ikbkb inhibitor of nuclear factor kappa B kinase subunit beta ISO RGD PMID:12075355, PMID:20200541 RGD:7495756, RGD:7495759 NCBI chr16:74,177,233...74,230,809
Ensembl chr16:74,177,215...74,230,815
JBrowse link
G Il13 interleukin 13 ISO DNA:SNP:promoter:rs20541 (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:31330126, PMID:23171465 RGD:8549505 NCBI chr10:38,982,909...38,985,466
Ensembl chr10:38,982,909...38,985,466
JBrowse link
G Il18 interleukin 18 ISO RGD PMID:12925208 RGD:8655896 NCBI chr 8:55,009,666...55,016,286
Ensembl chr 8:54,993,859...55,016,299
JBrowse link
G Il4 interleukin 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31330126 NCBI chr10:38,963,979...38,969,531
Ensembl chr10:38,963,979...38,969,531
JBrowse link
G Itgb2 integrin subunit beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9653089 NCBI chr20:11,777,773...11,815,647
Ensembl chr20:11,777,783...11,815,647
JBrowse link
G Nod2 nucleotide-binding oligomerization domain containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19467619 NCBI chr19:19,342,061...19,389,366
Ensembl chr19:19,332,594...19,377,492
JBrowse link
G Parp1 poly (ADP-ribose) polymerase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20561897 NCBI chr13:98,857,255...98,889,444
Ensembl chr13:98,857,177...98,889,716
JBrowse link
G Pla2g4a phospholipase A2 group IVA ISO CTD Direct Evidence: marker/mechanism CTD PMID:18287786 NCBI chr13:67,062,252...67,206,688
Ensembl chr13:66,988,937...67,206,693
JBrowse link
G Ripk3 receptor-interacting serine-threonine kinase 3 ISO RGD PMID:22000287 RGD:7777169 NCBI chr15:34,470,796...34,479,741
Ensembl chr15:34,470,796...34,479,741
JBrowse link
G RT1-Ba RT1 class II, locus Ba ISO CTD Direct Evidence: marker/mechanism CTD PMID:16836882 NCBI chr20:4,066,133...4,070,726
Ensembl chr20:4,066,132...4,070,721
JBrowse link
G RT1-CE13 RT1 class I, locus CE13 ISO human gene in rat model; DNA:polymorphisms:cds:HLA-B*2705 (human) RGD PMID:7573371 RGD:7387278
G Sharpin SHANK-associated RH domain interactor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19650867 NCBI chr 7:117,413,151...117,417,455
Ensembl chr 7:117,413,152...117,417,363
JBrowse link
G Tnf tumor necrosis factor ISO RGD PMID:3171214 RGD:7394823 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Vcam1 vascular cell adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27206134 NCBI chr 2:219,071,193...219,090,931
Ensembl chr 2:219,071,193...219,097,619
JBrowse link
G Zfp36 zinc finger protein 36 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15944294 NCBI chr 1:85,380,088...85,382,565
Ensembl chr 1:85,380,088...85,382,569
JBrowse link
acrodermatitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccl20 C-C motif chemokine ligand 20 ISO mRNA:decreased expression:skin RGD PMID:17606602 RGD:7483609 NCBI chr 9:88,918,359...88,921,017
Ensembl chr 9:88,918,433...88,921,001
JBrowse link
G Itpr3 inositol 1,4,5-trisphosphate receptor, type 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27258892 NCBI chr20:5,645,894...5,711,702
Ensembl chr20:5,646,097...5,711,702
JBrowse link
G Psmb9 proteasome 20S subunit beta 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27258892 NCBI chr20:3,973,424...3,978,845
Ensembl chr20:3,973,420...3,978,845
JBrowse link
G Slc39a4 solute carrier family 39 member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16714095 PMID:16819703 PMID:16889938 PMID:17190629 PMID:17202136 NCBI chr 7:117,675,718...117,682,586
Ensembl chr 7:117,675,720...117,680,004
JBrowse link
acrodermatitis enteropathica term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc39a4 solute carrier family 39 member 4 ISO DNA:deletions, snp, missense mutations:multiple (human)
ClinVar Annotator: match by term: Hereditary acrodermatitis enteropathica
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:201100
ClinVar
CTD
OMIM
PMID:11035780 PMID:11254458 PMID:12032886 PMID:12068297 PMID:12787121 PMID:12955721 PMID:14709598 PMID:15358787 PMID:17483098 PMID:19370757 PMID:20981092 PMID:24033266 PMID:25741868 PMID:28492532, PMID:12068297 RGD:1599005 NCBI chr 7:117,675,718...117,682,586
Ensembl chr 7:117,675,720...117,680,004
JBrowse link
Actinic Prurigo term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RT1-Db1 RT1 class II, locus Db1 susceptibility ISO DNA:Polymorphism: :HLA-DRB1*14(human) RGD PMID:11369906 RGD:7365088 NCBI chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
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 chr10:98,477,716...98,546,699
Ensembl chr10:98,478,067...98,544,447
JBrowse link
G Asrgl1 asparaginase and isoaspartyl peptidase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16033404 NCBI chr 1:225,309,737...225,329,743
Ensembl chr 1:225,309,246...225,329,770
JBrowse link
G Bcl2 BCL2, apoptosis regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:16033404 NCBI chr13:26,605,426...26,769,374
Ensembl chr13:26,605,426...26,769,374
JBrowse link
G Bmp6 bone morphogenetic protein 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17374397 NCBI chr17:26,955,142...27,112,820
Ensembl chr17:26,955,142...27,112,820
JBrowse link
G Calcrl calcitonin receptor like receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:17374397 NCBI chr 3:71,747,938...71,845,487
Ensembl chr 3:71,747,956...71,845,232
JBrowse link
G Casp8 caspase 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16033404 NCBI chr 9:65,614,142...65,662,624
Ensembl chr 9:65,614,142...65,662,106
JBrowse link
G Ccl17 C-C motif chemokine ligand 17 ISO RGD PMID:15491423 RGD:1626251 NCBI chr19:10,619,220...10,620,671
Ensembl chr19:10,619,220...10,620,671
JBrowse link
G Ccl19 C-C motif chemokine ligand 19 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17597826 NCBI chr 5:58,181,025...58,182,969
Ensembl chr 5:58,181,026...58,183,017
JBrowse link
G Ccl5 C-C motif chemokine ligand 5 ISO protein:increased expression:ear (mouse) RGD PMID:15491423 RGD:1626251 NCBI chr10:70,739,764...70,744,303
Ensembl chr10:70,739,800...70,744,315
JBrowse link
G Ccr1 C-C motif chemokine receptor 1 ISO RGD PMID:18844696 RGD:5688176 NCBI chr 8:132,996,646...133,002,201
Ensembl chr 8:132,996,649...133,002,201
JBrowse link
G Ccr2 C-C motif chemokine receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17374397, PMID:10899907 RGD:8661227
G Ccr3 C-C motif chemokine receptor 3 ISO RGD PMID:22075493 RGD:6892916 NCBI chr 8:133,026,539...133,040,999
Ensembl chr 8:133,029,625...133,040,997
JBrowse link
G Ccr5 C-C motif chemokine receptor 5 IEP mRNA:increased expression:skin, lymph node (rat) RGD PMID:16977379 RGD:2325935 NCBI chr 8:133,192,398...133,215,599
Ensembl chr 8:133,197,032...133,215,614
JBrowse link
G Cd36 CD36 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:17374397 NCBI chr 4:14,150,309...14,191,498
Ensembl chr 4:14,001,761...14,249,749
JBrowse link
G Cd3d CD3d molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:17597826 NCBI chr 8:49,282,502...49,287,095
Ensembl chr 8:49,282,460...49,287,110
JBrowse link
G Cidec cell death-inducing DFFA-like effector c ISO CTD Direct Evidence: marker/mechanism CTD PMID:17374397 NCBI chr 4:145,377,482...145,390,497
Ensembl chr 4:145,377,431...145,390,497
JBrowse link
G Cish cytokine inducible SH2-containing protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:16033404 NCBI chr 8:116,054,547...116,059,494
Ensembl chr 8:116,054,465...116,060,723
JBrowse link
G Cntn3 contactin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17597826 NCBI chr 4:134,783,671...135,159,309
Ensembl chr 4:134,784,668...135,069,970
JBrowse link
G Crem cAMP responsive element modulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:17374397 NCBI chr17:57,021,704...57,090,888
Ensembl chr17:57,031,766...57,090,888
JBrowse link
G Ctsc cathepsin C ISO CTD Direct Evidence: marker/mechanism CTD PMID:17374397 NCBI chr 1:151,918,514...151,949,979
Ensembl chr 1:151,918,571...151,949,983
JBrowse link
G Cxcl2 C-X-C motif chemokine ligand 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23178550 NCBI chr14:18,731,346...18,733,391
Ensembl chr14:18,731,378...18,733,391
JBrowse link
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11312644 PMID:19022366 NCBI chr 8:62,472,087...62,478,122
Ensembl chr 8:62,472,095...62,478,147
JBrowse link
G Emb embigin ISO CTD Direct Evidence: marker/mechanism CTD PMID:17374397 NCBI chr 2:49,682,763...49,733,475
Ensembl chr 2:49,682,754...49,732,253
JBrowse link
G Ets2 ETS proto-oncogene 2, transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:16033404 NCBI chr11:36,075,709...36,092,495
Ensembl chr11:36,075,709...36,092,495
JBrowse link
G F13a1 coagulation factor XIII A1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:17374397 NCBI chr17:28,504,650...28,680,015
Ensembl chr17:28,504,623...28,680,362
JBrowse link
G Fgl2 fibrinogen-like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17374397 NCBI chr 4:10,323,598...10,329,241
Ensembl chr 4:10,323,607...10,329,241
JBrowse link
G Flt1 Fms related receptor tyrosine kinase 1 ISO mRNA:protein:skin: RGD PMID:7876550 RGD:7421586 NCBI chr12:9,033,993...9,205,886
Ensembl chr12:9,034,308...9,205,905
JBrowse link
G Fyb1 FYN binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16033404 NCBI chr 2:55,834,904...55,983,805
Ensembl chr 2:55,835,151...55,983,804
JBrowse link
G Grk2 G protein-coupled receptor kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16033404 NCBI chr 1:219,536,220...219,544,329
Ensembl chr 1:219,536,220...219,544,328
JBrowse link
G Hsd11b1 hydroxysteroid 11-beta dehydrogenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16033404 NCBI chr13:111,946,626...111,996,536
Ensembl chr13:111,926,442...111,972,603
JBrowse link
G Ifi30 IFI30, lysosomal thiol reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17597826 NCBI chr16:20,426,566...20,430,772
Ensembl chr16:20,426,566...20,430,752
JBrowse link
G Ifng interferon gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:11312644 PMID:12484431 PMID:15347381 NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
JBrowse link
G Igsf6 immunoglobulin superfamily, member 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16033404 NCBI chr 1:190,997,029...191,007,503
Ensembl chr 1:190,997,029...191,007,503
JBrowse link
G Il10 interleukin 10 treatment ISO CTD Direct Evidence: marker/mechanism CTD PMID:15347381, PMID:23760007 RGD:7364806 NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
JBrowse link
G Il18 interleukin 18 treatment ISO mRNA:increased expression:skin
CTD Direct Evidence: marker/mechanism
CTD PMID:27585668, PMID:9781803, PMID:12874202 RGD:8655902, RGD:8655940 NCBI chr 8:55,009,666...55,016,286
Ensembl chr 8:54,993,859...55,016,299
JBrowse link
G Il18bp interleukin 18 binding protein treatment ISO RGD PMID:12874202 RGD:8655940 NCBI chr 1:167,091,521...167,095,727
Ensembl chr 1:167,091,522...167,093,560
JBrowse link
G Il1a interleukin 1 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:23178550 NCBI chr 3:121,824,712...121,836,122
Ensembl chr 3:121,825,412...121,836,086
JBrowse link
G Il2 interleukin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11312644 PMID:22245253 NCBI chr 2:123,847,150...123,851,854
Ensembl chr 2:123,847,150...123,851,854
JBrowse link
G Il2ra interleukin 2 receptor subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:16033404 NCBI chr17:70,500,672...70,547,929
Ensembl chr17:70,499,083...70,548,071
JBrowse link
G Il4 interleukin 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12484431 PMID:21804303 NCBI chr10:38,963,979...38,969,531
Ensembl chr10:38,963,979...38,969,531
JBrowse link
G Il5 interleukin 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15347381 NCBI chr10:39,066,716...39,069,587
Ensembl chr10:39,066,716...39,069,587
JBrowse link
G Ipcef1 interaction protein for cytohesin exchange factors 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17374397 NCBI chr 1:43,563,457...43,743,424
Ensembl chr 1:43,567,842...43,638,161
JBrowse link
G Itgam integrin subunit alpha M ISO CTD Direct Evidence: marker/mechanism CTD PMID:16033404 NCBI chr 1:199,495,312...199,545,738
Ensembl chr 1:199,495,298...199,623,960
JBrowse link
G Jam2 junctional adhesion molecule 2 ISO RGD PMID:16297198 RGD:7488919 NCBI chr11:24,235,310...24,285,279
Ensembl chr11:24,266,345...24,285,275
JBrowse link
G Jam3 junctional adhesion molecule 3 ISO RGD PMID:16297198 RGD:7488919 NCBI chr 8:28,147,110...28,208,466
Ensembl chr 8:28,147,111...28,208,466
JBrowse link
G Kdr kinase insert domain receptor ISO mRNA:protein:skin: RGD PMID:7876550 RGD:7421586 NCBI chr14:34,727,677...34,787,127
Ensembl chr14:34,727,623...34,787,183
JBrowse link
G Kmo kynurenine 3-monooxygenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16033404 NCBI chr13:93,684,324...93,715,378
Ensembl chr13:93,684,437...93,716,227
JBrowse link
G Mc1r melanocortin 1 receptor ISO RGD PMID:20126537 RGD:5687319 NCBI chr19:56,215,420...56,219,987 JBrowse link
G Meox1 mesenchyme homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16033404 NCBI chr10:89,797,011...89,817,009
Ensembl chr10:89,797,038...89,816,491
JBrowse link
G Mir155 microRNA 155 treatment IEP RGD PMID:29404871 RGD:21079472 NCBI chr11:24,176,603...24,176,667
Ensembl chr11:24,176,603...24,176,667
JBrowse link
G Mir21 microRNA 21 treatment IEP RGD PMID:29282578 RGD:41404666 NCBI chr10:73,902,210...73,902,301
Ensembl chr10:73,902,210...73,902,301
JBrowse link
G Mki67 marker of proliferation Ki-67 ISO RGD PMID:21294775 RGD:6483538 NCBI chr 1:207,993,895...208,020,454
Ensembl chr 1:207,993,895...208,020,454
JBrowse link
G Mmp3 matrix metallopeptidase 3 IEP
ISO
mRNA:increased expression:skin, lymph node RGD PMID:16977379, PMID:10359808 RGD:2325935, RGD:8693317 NCBI chr 8:5,676,608...5,698,579
Ensembl chr 8:5,676,665...5,698,579
JBrowse link
G Mmp9 matrix metallopeptidase 9 IEP
ISO
mRNA:increased expression:skin, lymph node RGD PMID:16977379, PMID:10359808, PMID:10415717 RGD:2325935, RGD:8693317, RGD:8547869 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
G Mrc1 mannose receptor, C type 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16033404 NCBI chr17:81,352,700...81,433,743
Ensembl chr17:81,352,700...81,433,743
JBrowse link
G Mxd1 max dimerization protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17374397 NCBI chr 4:118,451,752...118,472,150
Ensembl chr 4:118,449,882...118,472,179
JBrowse link
G Nampt nicotinamide phosphoribosyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17374397 NCBI chr 6:52,122,085...52,156,473
Ensembl chr 6:52,122,085...52,156,472
JBrowse link
G Nat1 N-acetyltransferase 1 susceptibility ISO DNA:polymorphism: : RGD PMID:19663877 RGD:8552666 NCBI chr16:23,970,742...23,991,573
Ensembl chr16:23,970,743...23,991,573
JBrowse link
G Nat2 N-acetyltransferase 2 susceptibility ISO DNA:polymorphisms: : RGD PMID:16533241 RGD:8552663 NCBI chr16:23,960,709...23,991,570
Ensembl chr16:23,961,067...23,991,570
JBrowse link
G Nfe2l2 nuclear factor, erythroid 2-like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23564646 NCBI chr 3:62,497,568...62,525,146
Ensembl chr 3:62,497,571...62,524,996
JBrowse link
G Ninj1 ninjurin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17374397 NCBI chr17:15,866,235...15,881,284
Ensembl chr17:15,866,237...15,881,327
JBrowse link
G Numa1 nuclear mitotic apparatus protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16033404 NCBI chr 1:167,044,544...167,091,453
Ensembl chr 1:167,051,209...167,091,453
JBrowse link
G Ogg1 8-oxoguanine DNA glycosylase ISO RGD PMID:15677345 RGD:8657146 NCBI chr 4:145,282,828...145,289,367
Ensembl chr 4:145,282,797...145,289,326
JBrowse link
G Phlda1 pleckstrin homology-like domain, family A, member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17374397 NCBI chr 7:54,247,460...54,249,664
Ensembl chr 7:54,247,460...54,249,664
JBrowse link
G Pim1 Pim-1 proto-oncogene, serine/threonine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16033404 NCBI chr20:8,165,423...8,169,557
Ensembl chr20:8,165,307...8,169,555
JBrowse link
G Plat plasminogen activator, tissue type ISO CTD Direct Evidence: marker/mechanism CTD PMID:17374397 NCBI chr16:74,098,263...74,122,897
Ensembl chr16:74,098,260...74,122,889
JBrowse link
G Prdx4 peroxiredoxin 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16033404 NCBI chr  X:43,495,453...43,512,994
Ensembl chr  X:43,497,763...43,512,991
JBrowse link
G Qpct glutaminyl-peptide cyclotransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16033404 NCBI chr 6:1,657,110...1,689,575
Ensembl chr 6:1,657,331...1,689,559
JBrowse link
G Rab32 RAB32, member RAS oncogene family ISO CTD Direct Evidence: marker/mechanism CTD PMID:17374397 NCBI chr 1:4,638,663...4,653,220
Ensembl chr 1:4,637,491...4,653,210
JBrowse link
G Rgs1 regulator of G-protein signaling 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17374397 NCBI chr13:61,066,196...61,070,772
Ensembl chr13:61,066,153...61,070,599
JBrowse link
G Sat1 spermidine/spermine N1-acetyl transferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17374397 NCBI chr  X:43,626,480...43,629,767
Ensembl chr  X:43,625,169...43,629,765
JBrowse link
G Sele selectin E ISO CTD Direct Evidence: marker/mechanism CTD PMID:17597826 NCBI chr13:82,355,234...82,365,323
Ensembl chr13:82,355,471...82,365,341
JBrowse link
G Slc2a3 solute carrier family 2 member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17374397 NCBI chr 4:155,549,991...155,626,018
Ensembl chr 4:155,408,233...155,631,856
JBrowse link
G Slc7a5 solute carrier family 7 member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17374397 NCBI chr19:54,693,959...54,722,563
Ensembl chr19:54,693,959...54,722,563
JBrowse link
G Socs1 suppressor of cytokine signaling 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16033404 NCBI chr10:4,956,795...4,958,472
Ensembl chr10:4,957,326...4,958,461
JBrowse link
G Socs2 suppressor of cytokine signaling 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16033404 NCBI chr 7:36,495,496...36,500,878
Ensembl chr 7:36,495,480...36,499,784
JBrowse link
G Spp1 secreted phosphoprotein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14555839 NCBI chr14:6,673,686...6,679,965
Ensembl chr14:6,673,686...6,679,901
JBrowse link
G St6gal1 ST6 beta-galactoside alpha-2,6-sialyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16033404 NCBI chr11:80,927,601...80,981,424
Ensembl chr11:80,927,601...80,981,422
JBrowse link
G Stac SH3 and cysteine rich domain ISO CTD Direct Evidence: marker/mechanism CTD PMID:16033404 NCBI chr 8:119,820,664...119,941,867
Ensembl chr 8:119,821,901...119,889,661
JBrowse link
G Tap2 transporter 2, ATP binding cassette subfamily B member susceptibility ISO RGD PMID:9303338 RGD:6482276 NCBI chr20:3,995,544...4,009,587
Ensembl chr20:3,995,544...4,009,587
JBrowse link
G Tlr4 toll-like receptor 4 ISO RGD PMID:20711192, PMID:18725520 RGD:7777133, RGD:7794737 NCBI chr 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052
JBrowse link
G Tlr7 toll-like receptor 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16033404 NCBI chr  X:28,486,836...28,513,004
Ensembl chr  X:28,486,869...28,512,957
JBrowse link
G Tmsb10 thymosin, beta 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17597826 NCBI chr 4:100,882,216...100,883,303
Ensembl chr 4:100,882,216...100,883,275
JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:15849067 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Tnfaip6 TNF alpha induced protein 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16033404 PMID:17374397 NCBI chr 3:37,545,238...37,564,704
Ensembl chr 3:37,545,238...37,564,699
JBrowse link
G Tslp thymic stromal lymphopoietin treatment ISO RGD PMID:30187507 RGD:38596345 NCBI chr18:25,613,601...25,618,066
Ensembl chr18:25,613,831...25,617,361
JBrowse link
G Upp1 uridine phosphorylase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16033404 NCBI chr14:89,314,234...89,334,060
Ensembl chr14:89,314,176...89,334,276
JBrowse link
G Vegfa vascular endothelial growth factor A IEP
ISO
mRNA:protein:skin: RGD PMID:7876550, PMID:7876550 RGD:7421586, RGD:7421586 NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
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 chr 7:18,310,624...18,312,001
Ensembl chr 7:18,310,624...18,312,001
JBrowse link
G Adam17 ADAM metallopeptidase domain 17 ISS OMIM:603165 MouseDO NCBI chr 6:43,400,525...43,448,280
Ensembl chr 6:43,400,528...43,448,280
JBrowse link
G Ahr aryl hydrocarbon receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:27869817 NCBI chr 6:54,963,990...55,001,806
Ensembl chr 6:54,963,990...55,001,464
JBrowse link
G Apoe apolipoprotein E ISO protein:decreased expression:plasma RGD PMID:19116453 RGD:11040546 NCBI chr 1:80,612,894...80,616,820
Ensembl chr 1:80,612,895...80,617,057
JBrowse link
G Artn artemin ISO CTD Direct Evidence: marker/mechanism CTD PMID:27869817 NCBI chr 5:136,759,717...136,765,036
Ensembl chr 5:136,759,717...136,762,986
JBrowse link
G Bdnf brain-derived neurotrophic factor susceptibility
no_association
ISO DNA:polymorphism::C270T(human)
protein:increased expression:serum:
DNA:polymorphism:cds:p.V66M(human)
mRNA:decreased expression:mast cell
RGD PMID:19522715, PMID:17073871, PMID:19038326, PMID:17845420 RGD:8657028, RGD:8657069, RGD:8657067, RGD:8657065 NCBI chr 3:100,768,637...100,819,216
Ensembl chr 3:100,768,637...100,819,210
JBrowse link
G C3 complement C3 ISO protein:increased expression:plasma RGD PMID:3923750 RGD:7401273 NCBI chr 9:9,721,137...9,747,084
Ensembl chr 9:9,721,105...9,747,167
JBrowse link
G Card11 caspase recruitment domain family, member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23042114 PMID:28628108 NCBI chr12:15,700,600...15,844,512
Ensembl chr12:15,700,825...15,844,512
JBrowse link
G Casp8 caspase 8 ISS OMIM:603165 MouseDO NCBI chr 9:65,614,142...65,662,624
Ensembl chr 9:65,614,142...65,662,106
JBrowse link
G Ccdc80 coiled-coil domain containing 80 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23042114 NCBI chr11:60,645,660...60,679,249
Ensembl chr11:60,645,086...60,679,555
JBrowse link
G Ccl11 C-C motif chemokine ligand 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18249437 NCBI chr10:69,434,965...69,439,566
Ensembl chr10:69,434,941...69,439,575
JBrowse link
G Ccl17 C-C motif chemokine ligand 17 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18249437 NCBI chr19:10,619,220...10,620,671
Ensembl chr19:10,619,220...10,620,671
JBrowse link
G 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 9:88,918,359...88,921,017
Ensembl chr 9:88,918,433...88,921,001
JBrowse link
G Ccl22 C-C motif chemokine ligand 22 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18249437 PMID:22125604 NCBI chr19:10,674,189...10,681,145
Ensembl chr19:10,674,189...10,681,145
JBrowse link
G Ccl24 C-C motif chemokine ligand 24 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18249437 NCBI chr12:24,131,529...24,152,626
Ensembl chr12:24,148,567...24,152,625
JBrowse link
G Ccl26 C-C motif chemokine ligand 26 ISO protein:increased expression:serum (human) RGD PMID:14616792 RGD:11087554 NCBI chr12:24,157,182...24,161,870
Ensembl chr12:24,158,766...24,161,869
JBrowse link
G Ccl27 C-C motif chemokine ligand 27 ISO RGD PMID:12642842 RGD:1626250 NCBI chr 5:58,159,066...58,166,182
Ensembl chr 5:58,159,066...58,163,584
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 2:52,379,341...52,403,979
Ensembl chr 2:52,379,341...52,404,246
JBrowse link
G Ccl5 C-C motif chemokine ligand 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18249437 NCBI chr10:70,739,764...70,744,303
Ensembl chr10:70,739,800...70,744,315
JBrowse link
G Ccr2 C-C motif chemokine receptor 2 ISO protein:increased expression:skin,monocyte: RGD PMID:15370700 RGD:8661734
G Ccr3 C-C motif chemokine receptor 3 ISO protein:increased expression:skin
CTD Direct Evidence: marker/mechanism
CTD PMID:18249437, PMID:16449815 RGD:6893391 NCBI chr 8:133,026,539...133,040,999
Ensembl chr 8:133,029,625...133,040,997
JBrowse link
G Ccr5 C-C motif chemokine receptor 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18249437, PMID:16449815 RGD:6893391 NCBI chr 8:133,192,398...133,215,599
Ensembl chr 8:133,197,032...133,215,614
JBrowse link
G Cd40 CD40 molecule ISO RGD PMID:18693155 RGD:5132274 NCBI chr 3:161,519,789...161,534,943
Ensembl chr 3:161,519,743...161,534,704
JBrowse link
G 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 chr11:77,815,216...77,830,373
Ensembl chr11:77,815,181...77,830,416
JBrowse link
G Cldn23 claudin 23 ISO mRNA:decreased expression:epidermis: RGD PMID:21163515 RGD:11344875 NCBI chr16:59,988,603...59,990,327
Ensembl chr16:59,988,603...59,990,326
JBrowse link
G Cma1 chymase 1 ISO DNA:polymorphism:5' utr:g.-1903G>A rs1800875 (human) RGD PMID:16134991 RGD:1625394 NCBI chr15:34,601,037...34,603,819
Ensembl chr15:34,601,037...34,603,819
JBrowse link
G 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 9:67,699,397...67,706,068
Ensembl chr 9:67,699,379...67,706,065
JBrowse link
G Ctse cathepsin E ISS OMIM:603165 MouseDO NCBI chr13:48,426,833...48,449,493
Ensembl chr13:48,426,820...48,449,490
JBrowse link
G Cx3cl1 C-X3-C motif chemokine ligand 1 ISO protein:increased expression:serum RGD PMID:15131578 RGD:9491761 NCBI chr19:10,644,267...10,654,861
Ensembl chr19:10,644,244...10,653,800
JBrowse link
G 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 8:128,740,756...128,754,514
Ensembl chr 8:128,740,756...128,754,514
JBrowse link
G Cxcl10 C-X-C motif chemokine ligand 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18249437 NCBI chr14:17,210,733...17,212,930
Ensembl chr14:17,210,733...17,212,930
JBrowse link
G Cxcr3 C-X-C motif chemokine receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18249437 NCBI chr  X:71,614,346...71,616,997
Ensembl chr  X:71,614,346...71,616,997
JBrowse link
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27869817 NCBI chr 8:62,472,087...62,478,122
Ensembl chr 8:62,472,095...62,478,147
JBrowse link
G Cyp4f39 cytochrome P450, family 4, subfamily f, polypeptide 39 ISO ClinVar Annotator: match by term: Dermatitis, atopic ClinVar PMID:25741868 NCBI chr 7:14,435,024...14,514,960
Ensembl chr 7:14,441,476...14,515,212
JBrowse link
G Dock8 dedicator of cytokinesis 8 ISO DNA:mutations:cds: RGD PMID:22476911 RGD:40903056 NCBI chr 1:242,934,685...243,153,472
Ensembl chr 1:242,959,488...243,153,465
JBrowse link
G Emsy EMSY transcriptional repressor, BRCA2 interacting ISO CTD Direct Evidence: marker/mechanism CTD PMID:23042114 NCBI chr 1:163,541,071...163,618,576
Ensembl chr 1:163,545,326...163,611,299
JBrowse link
G F2 coagulation factor II ISO protein:increased expression:plasma RGD PMID:21488867 RGD:5147756 NCBI chr 3:80,529,468...80,542,993
Ensembl chr 3:80,529,428...80,543,031
JBrowse link
G Fcgr2a Fc fragment of IgG receptor IIa severity ISO protein:increased expression:eosinophil RGD PMID:7564170, PMID:19414806 RGD:5147985, RGD:5508430 NCBI chr13:91,146,878...91,163,691
Ensembl chr13:91,168,973...91,198,036
Ensembl chr13:91,168,973...91,198,036
JBrowse link
G Flg filaggrin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Dermatitis, atopic
CTD
ClinVar
PMID:16444271 PMID:16550169 PMID:16815158 PMID:17030239 PMID:18325573 PMID:19349982 PMID:19501237 PMID:19839980 PMID:19874431 PMID:21514438 PMID:22403702 PMID:23042114 PMID:23348739 PMID:23947670 PMID:24033266 PMID:24061166 PMID:24920311 PMID:25741868 PMID:27279822 PMID:27363669 PMID:31637781 NCBI chr 2:193,565,401...193,574,297 JBrowse link
G Glb1 galactosidase, beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23042114 NCBI chr 8:122,439,328...122,511,939
Ensembl chr 8:122,439,328...122,511,939
JBrowse link
G Gstm1 glutathione S-transferase mu 1 susceptibility ISO DNA:deletion: : RGD PMID:21176116, PMID:20674822 RGD:5490539, RGD:5490981 NCBI chr 2:210,803,869...210,809,461
Ensembl chr 2:210,803,869...210,809,306
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 chr 1:219,291,679...219,294,147
Ensembl chr 1:219,291,679...219,294,147
JBrowse link
G Gstt1 glutathione S-transferase theta 1 ISO DNA:deletion, haplotype: : RGD PMID:19842992 RGD:5490540 NCBI chr20:13,799,102...13,816,527
Ensembl chr20:13,799,102...13,816,526
JBrowse link
G Havcr1 hepatitis A virus cellular receptor 1 ISO RGD PMID:16159638 RGD:5128852 NCBI chr10:31,813,819...31,860,934
Ensembl chr10:31,813,814...31,848,379
JBrowse link
G Hnmt histamine N-methyltransferase ISO RGD PMID:19025430 RGD:5128889 NCBI chr 3:905,111...937,038
Ensembl chr 3:904,765...937,102
JBrowse link
G Ifng interferon gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:18249437, PMID:22101570 RGD:8157618 NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
JBrowse link
G Ifnl3 interferon, lambda 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22295096 NCBI chr 1:85,236,243...85,237,775
Ensembl chr 1:85,236,243...85,237,775
JBrowse link
G Il10 interleukin 10 treatment ISO CTD Direct Evidence: marker/mechanism CTD PMID:18249437, PMID:23843958 RGD:7364805 NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
JBrowse link
G Il13 interleukin 13 severity
treatment
ISO DNA:SNPs: :rs3091307, rs20541 (human)
CTD Direct Evidence: marker/mechanism
DNA:SNP:exon:4257G>A (human)
DNA, protein:SNP, increased expression:promoter, serum:-1112C>T (human)
CTD PMID:18249437 PMID:22355542, PMID:21913997, PMID:16672002, PMID:17313488, PMID:19006098, PMID:10887320, PMID:23317483 RGD:5684364, RGD:8549583, RGD:8549539, RGD:8549531, RGD:8549529, RGD:8549509 NCBI chr10:38,982,909...38,985,466
Ensembl chr10:38,982,909...38,985,466
JBrowse link
G Il13ra1 interleukin 13 receptor subunit alpha 1 ISO mRNA:increased expression:skin RGD PMID:14527737 RGD:8549525 NCBI chr  X:122,724,081...122,783,801
Ensembl chr  X:122,724,129...122,781,479
JBrowse link
G Il13ra2 interleukin 13 receptor subunit alpha 2 ISO protein:increased expression:serum RGD PMID:21462799, PMID:20971924 RGD:8549521, RGD:8549556 NCBI chr  X:118,443,955...118,514,716
Ensembl chr  X:118,443,823...118,513,061
JBrowse link
G Il17a interleukin 17A treatment
severity
ISO protein:increased expression:dermis, lymphocyte (human)
protein:increased expression:epidermis (mouse)
RGD PMID:24337738, PMID:18432274, PMID:22848348 RGD:8698670, RGD:9068436, RGD:9068417 NCBI chr 9:26,841,299...26,844,786
Ensembl chr 9:26,841,299...26,844,786
JBrowse link
G Il18 interleukin 18 severity
no_association
ISO
ISS
protein:increased expression:serum
OMIM:603165
DNA:SNP:promoter:-140C>G (rs360721) (human)
DNA:SNP:promoter:-137G>C (rs187238) (human)
DNA:SNPs, haplotype: :rs795467, rs4937113, rs5744247 (human)
MouseDO PMID:15317323, PMID:22840759, PMID:22840759, PMID:11490156, PMID:17517100 RGD:8655872, RGD:8655914, RGD:8655914, RGD:8655908, RGD:8655876 NCBI chr 8:55,009,666...55,016,286
Ensembl chr 8:54,993,859...55,016,299
JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:18249437 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
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:7547077, PMID:1673687, PMID:16672002, PMID:16333313, PMID:21982597 RGD:8662961, RGD:8693325, RGD:8549583, RGD:8663473, RGD:8663444 NCBI chr 2:123,847,150...123,851,854
Ensembl chr 2:123,847,150...123,851,854
JBrowse link
G Il21r interleukin 21 receptor ISO protein:increased expression:skin RGD PMID:19075398, PMID:19075398 RGD:6892938, RGD:6892938 NCBI chr 1:196,996,405...197,024,185
Ensembl chr 1:196,996,581...197,024,166
JBrowse link
G Il25 interleukin 25 ISO protein:increased expression:arm skin RGD PMID:23657503 RGD:39128244 NCBI chr15:33,594,852...33,599,692
Ensembl chr15:33,596,301...33,599,685
JBrowse link
G Il31 interleukin 31 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18249437 NCBI chr12:38,527,575...38,538,086 JBrowse link
G Il33 interleukin 33 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18249437 NCBI chr 1:248,112,611...248,147,030
Ensembl chr 1:248,132,090...248,147,029
JBrowse link
G Il4 interleukin 4 ISO DNA:SNP:promoter:-590C>T (human)
CTD Direct Evidence: marker/mechanism
protein:increased expression:serum
CTD PMID:11886533 PMID:12230500 PMID:18249437, PMID:9643293, PMID:8363440 RGD:7829786, RGD:7829795 NCBI chr10:38,963,979...38,969,531
Ensembl chr10:38,963,979...38,969,531
JBrowse link
G Il4r interleukin 4 receptor susceptibility ISO DNA:mutation:cds:p.Q576R(human) RGD PMID:9392697 RGD:11530001 NCBI chr 1:196,942,343...196,967,221
Ensembl chr 1:196,942,364...196,967,220
JBrowse link
G Il5 interleukin 5 ISO mRNA: increased expression: skin
CTD Direct Evidence: marker/mechanism
CTD PMID:11886533 PMID:18249437, PMID:22299064 RGD:5687175 NCBI chr10:39,066,716...39,069,587
Ensembl chr10:39,066,716...39,069,587
JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18249437 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G Kcnj11 potassium inwardly-rectifying channel, subfamily J, member 11 ISO ClinVar Annotator: match by term: Dermatitis, atopic ClinVar NCBI chr 1:102,103,093...102,107,134
Ensembl chr 1:102,103,094...102,106,127
JBrowse link
G Mapk8 mitogen-activated protein kinase 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24046278 NCBI chr16:9,620,854...9,709,342
Ensembl chr16:9,625,177...9,709,347
JBrowse link
G Mbl2 mannose binding lectin 2 susceptibility ISO DNA:polymorphisms:promoter, exon: RGD PMID:20642202 RGD:8693720 NCBI chr 1:248,435,069...248,442,669
Ensembl chr 1:248,723,397...248,729,962
JBrowse link
G Mc1r melanocortin 1 receptor ISO protein: increased expression: skin RGD PMID:19889022 RGD:5687321 NCBI chr19:56,215,420...56,219,987 JBrowse link
G Mmp9 matrix metallopeptidase 9 treatment ISO RGD PMID:27776525 RGD:13204759 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
G 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 1:227,957,363...227,965,312
Ensembl chr 1:227,957,302...227,965,386
JBrowse link
G 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 chr16:23,960,709...23,991,570
Ensembl chr16:23,961,067...23,991,570
JBrowse link
G Nfkbia NFKB inhibitor alpha ISS OMIM:603165 MouseDO NCBI chr 6:76,267,227...76,270,457
Ensembl chr 6:76,267,228...76,270,457
JBrowse link
G Nfkbiz NFKB inhibitor zeta ISS OMIM:603165 MouseDO NCBI chr11:47,243,342...47,271,487
Ensembl chr11:47,243,342...47,271,487
JBrowse link
G Ngf nerve growth factor ISO protein:increased expression:serum: RGD PMID:17073871 RGD:8657069 NCBI chr 2:204,886,158...204,939,523
Ensembl chr 2:204,886,202...204,940,453
JBrowse link
G Ngfr nerve growth factor receptor ISO protein:increased expression:nerve fibers of the papillary dermis (human) RGD PMID:16586073 RGD:5508452 NCBI chr10:83,389,828...83,408,061
Ensembl chr10:83,389,847...83,408,061
JBrowse link
G Ntrk1 neurotrophic receptor tyrosine kinase 1 ISO protein:increased expression:eosinophil RGD PMID:18647313, PMID:17223862 RGD:5144116, RGD:5684771 NCBI chr 2:187,143,568...187,160,373
Ensembl chr 2:187,143,568...187,160,373
JBrowse link
G Ovol1 ovo like transcriptional repressor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23042114 NCBI chr 1:220,927,309...220,938,814
Ensembl chr 1:220,925,605...220,938,814
JBrowse link
G Ppara peroxisome proliferator activated receptor alpha ISO potential therapeutic target with or without glucocorticoid therapy (mouse)
CTD Direct Evidence: marker/mechanism
CTD PMID:18249437, PMID:21633371 RGD:5509940 NCBI chr 7:126,618,872...126,687,282
Ensembl chr 7:126,619,196...126,681,752
JBrowse link
G Relb RELB proto-oncogene, NF-kB subunit ISO
ISS
OMIM:603165 MouseDO PMID:10940923 RGD:7777149 NCBI chr 1:80,517,081...80,545,019
Ensembl chr 1:80,517,411...80,544,825
JBrowse link
G S100a8 S100 calcium binding protein A8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18336422 NCBI chr 2:190,073,239...190,074,333
Ensembl chr 2:190,073,815...190,074,354
JBrowse link
G Sele selectin E ISO CTD Direct Evidence: marker/mechanism CTD PMID:12410700 NCBI chr13:82,355,234...82,365,323
Ensembl chr13:82,355,471...82,365,341
JBrowse link
G Selp selectin P ISO atopy and bronchial hyperresponsiveness, OMIM:147050 RGD PMID:12929084 RGD:1599904 NCBI chr13:82,428,914...82,464,629
Ensembl chr13:82,429,063...82,464,628
JBrowse link
G Sharpin SHANK-associated RH domain interactor ISS OMIM:603165 MouseDO NCBI chr 7:117,413,151...117,417,455
Ensembl chr 7:117,413,152...117,417,363
JBrowse link
G Slc11a1 solute carrier family 11 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16597321 NCBI chr 9:81,655,590...81,666,697
Ensembl chr 9:81,655,629...81,666,706
JBrowse link
G Stat6 signal transducer and activator of transcription 6 ISO CTD Direct Evidence: therapeutic CTD PMID:15306842 NCBI chr 7:70,946,228...70,963,542
Ensembl chr 7:70,946,228...70,964,484
JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO GAD
RGD
PMID:15118671, PMID:11496247 RGD:1331525, RGD:7394812 NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
JBrowse link
G Tlr2 toll-like receptor 2 severity ISO DNA:polymorphism: :-16934A>T(human)
DNA:polymorphism:cds:p.R753Q(human)
RGD PMID:19627277, PMID:22032785, PMID:17531301 RGD:8552997, RGD:8553048, RGD:8552999 NCBI chr 2:182,840,171...182,846,061
Ensembl chr 2:182,840,727...182,846,061
JBrowse link
G 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 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052
JBrowse link
G Tmem79 transmembrane protein 79 ISS OMIM:603165 MouseDO NCBI chr 2:187,701,522...187,706,452
Ensembl chr 2:187,697,509...187,706,321
JBrowse link
G Tnf tumor necrosis factor susceptibility ISO DNA:haplotype:promoter:−308G>A,-238G>A(human) RGD PMID:22533231 RGD:7401246 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Tnfaip6 TNF alpha induced protein 6 ISO mRNA:altered expression:fibroblast RGD PMID:16650051 RGD:7777183 NCBI chr 3:37,545,238...37,564,704
Ensembl chr 3:37,545,238...37,564,699
JBrowse link
G Traf3ip2 Traf3 interacting protein 2 ISS OMIM:603165 MouseDO NCBI chr20:44,679,861...44,722,874
Ensembl chr20:44,680,449...44,722,872
JBrowse link
G Trpv3 transient receptor potential cation channel, subfamily V, member 3 ISS OMIM:603165 MouseDO NCBI chr10:59,829,755...59,863,780
Ensembl chr10:59,831,241...59,860,987
JBrowse link
G Tslp thymic stromal lymphopoietin treatment ISO CTD Direct Evidence: marker/mechanism CTD PMID:16880407 PMID:22355542 PMID:23688403 PMID:27869817, PMID:29310423 RGD:38549374 NCBI chr18:25,613,601...25,618,066
Ensembl chr18:25,613,831...25,617,361
JBrowse link
G 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 7:139,344,452...139,394,138
Ensembl chr 7:139,342,063...139,394,166
JBrowse link
G Vnn1 vanin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19322213 NCBI chr 1:22,614,832...22,625,134
Ensembl chr 1:22,614,783...22,625,204
JBrowse link
G Wasl WASP like actin nucleation promoting factor ISS OMIM:603165 MouseDO NCBI chr 4:51,677,722...51,726,212
Ensembl chr 4:51,677,722...51,726,212
JBrowse link
G Zfp365 zinc finger protein 365 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23042114 NCBI chr20:22,060,160...22,083,766
Ensembl chr20:22,060,224...22,086,108
JBrowse link
atopic dermatitis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Flg filaggrin susceptibility ISO ClinVar Annotator: match by term: Dermatitis, atopic, 2
ClinVar Annotator: match by term: Dermatitis, atopic, 2, susceptibility to
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:16444271 PMID:16550169 PMID:16815158 PMID:17030239 PMID:17291859 PMID:17417636 PMID:18325573 PMID:19501237 PMID:19785597 PMID:19839980 PMID:19874431 PMID:20674819 PMID:21039602 PMID:21377035 PMID:21514438 PMID:22403702 PMID:22407025 PMID:22995991 PMID:23947670 PMID:24033266 PMID:24920311 PMID:25741868 PMID:26451970 PMID:27279822 PMID:27363669 PMID:28143684 PMID:29428354 PMID:29791750 PMID:31637781 NCBI chr 2:193,565,401...193,574,297 JBrowse link
atopic dermatitis 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Socs3 suppressor of cytokine signaling 3 susceptibility ISO OMIM NCBI chr10:106,973,863...106,976,969
Ensembl chr10:106,975,178...106,976,040
JBrowse link
atrichia with papular lesions term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hr HR, lysine demethylase and nuclear receptor corepressor ISO ClinVar Annotator: match by term: Atrichia with papular lesions
ClinVar Annotator: match by OMIM:209500
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:8790387 PMID:9445480 PMID:9736769 PMID:9758627 PMID:9856480 PMID:9880231 PMID:9892925 PMID:10051399 PMID:10205263 PMID:10469319 PMID:11410842 PMID:11966690 PMID:12271294 PMID:17609203 PMID:20087431 PMID:20512917 PMID:21747609 PMID:21919222 PMID:22584530 PMID:23548463 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr15:52,241,801...52,261,276
Ensembl chr15:52,241,801...52,261,276
JBrowse link
G Odc1 ornithine decarboxylase 1 ISS OMIM:209500 MouseDO NCBI chr 6:42,852,529...42,859,142
Ensembl chr 6:42,852,683...42,859,927
JBrowse link
autosomal dominant dystrophic epidermolysis bullosa term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col7a1 collagen type VII alpha 1 chain ISO ClinVar Annotator: match by term: Epidermolysis bullosa dystrophica, autosomal dominant
ClinVar Annotator: match by OMIM:131750
OMIM
ClinVar
PMID:1680286 PMID:2653224 PMID:7577595 PMID:7861014 PMID:8170945 PMID:8288900 PMID:8755915 PMID:9347800 PMID:9668111 PMID:9856844 PMID:9892921 PMID:10084325 PMID:10408773 PMID:10469344 PMID:11781296 PMID:11874498 PMID:12485454 PMID:12787275 PMID:15888141 PMID:16484981 PMID:16557343 PMID:16965329 PMID:16971478 PMID:19681861 PMID:20598510 PMID:22266148 PMID:24033266 PMID:24794830 PMID:25741868 PMID:28492532 PMID:28830826 PMID:32860008 NCBI chr 8:117,694,441...117,726,844
Ensembl chr 8:117,694,605...117,726,844
JBrowse link
Blister term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adam17 ADAM metallopeptidase domain 17 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19167455 NCBI chr 6:43,400,525...43,448,280
Ensembl chr 6:43,400,528...43,448,280
JBrowse link
G Anxa1 annexin A1 ISO associated with Hypersensitivity, Delayed;protein:increased expression:mononuclear cell RGD PMID:10331485 RGD:7421575 NCBI chr 1:237,893,983...237,910,002
Ensembl chr 1:237,893,966...237,910,012
JBrowse link
G Col7a1 collagen type VII alpha 1 chain ISO ClinVar Annotator: match by term: Blisters ClinVar PMID:9881948 PMID:12787275 PMID:22266148 PMID:25741868 PMID:26076072 PMID:26148662 PMID:28492532 PMID:28830826 PMID:32860008 NCBI chr 8:117,694,441...117,726,844
Ensembl chr 8:117,694,605...117,726,844
JBrowse link
G Mfn2 mitofusin 2 ISO ClinVar Annotator: match by term: Blisters ClinVar PMID:15064763 PMID:16437557 PMID:16714318 PMID:16835246 PMID:17296794 PMID:19889647 PMID:21285398 PMID:22442078 PMID:24126688 PMID:24604904 PMID:24862862 PMID:24863639 PMID:25025039 PMID:25741868 PMID:26085578 PMID:26382835 PMID:26467025 PMID:26686600 PMID:26801520 PMID:27549087 PMID:27863451 PMID:28492532 PMID:31188717 NCBI chr 5:164,684,244...164,715,414
Ensembl chr 5:164,684,509...164,714,145
JBrowse link
G Ppox protoporphyrinogen oxidase ISO ClinVar Annotator: match by term: Blisters ClinVar NCBI chr13:89,650,094...89,654,998
Ensembl chr13:89,650,094...89,654,244
JBrowse link
bullous pemphigoid term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccl26 C-C motif chemokine ligand 26 ISO protein:increased expression:blister, serum (human) RGD PMID:21881593 RGD:11087555 NCBI chr12:24,157,182...24,161,870
Ensembl chr12:24,158,766...24,161,869
JBrowse link
G Cfb complement factor B ISO RGD PMID:17024247 RGD:7421522 NCBI chr20:4,536,206...4,542,073
Ensembl chr20:4,536,203...4,561,066
Ensembl chr20:4,536,203...4,561,066
JBrowse link
G Col17a1 collagen type XVII alpha 1 chain ISS MouseDO NCBI chr 1:267,416,681...267,465,049
Ensembl chr 1:267,417,459...267,463,705
JBrowse link
G F2 coagulation factor II ISO protein:increased expression:plasma RGD PMID:21488867 RGD:5147756 NCBI chr 3:80,529,468...80,542,993
Ensembl chr 3:80,529,428...80,543,031
JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO RGD PMID:1377725 RGD:8547591 NCBI chr 8:22,035,287...22,047,049
Ensembl chr 8:22,035,256...22,047,059
JBrowse link
G Il2 interleukin 2 ISO RGD PMID:1973607 RGD:8663461 NCBI chr 2:123,847,150...123,851,854
Ensembl chr 2:123,847,150...123,851,854
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO RGD PMID:9687525 RGD:8547843 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
G Vegfa vascular endothelial growth factor A ISO mRNA:increased expression: : RGD PMID:7738351 RGD:7421578 NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
JBrowse link
cicatricial pemphigoid term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clu clusterin ISO mRNA:decreased expression:conjunctiva RGD PMID:12036968 RGD:8699507 NCBI chr15:42,626,612...42,665,858
Ensembl chr15:42,640,146...42,665,857
JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO protein:increased expression:serum (human) RGD PMID:11448121 RGD:8549794 NCBI chr 3:1,449,778...1,468,624
Ensembl chr 3:1,452,644...1,468,614
JBrowse link
G Ptger3 prostaglandin E receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21966456 NCBI chr 2:263,895,093...263,979,682
Ensembl chr 2:263,895,241...263,979,698
JBrowse link
G RT1-Bb RT1 class II, locus Bb susceptibility ISO DNA:polymorphisms, haplotypes:cds:HLA-DQB1*0301, HLA-DQB1*0201 (human)
DNA:polymorphism:cds:HLA-DQB1*0301 (human)
RGD PMID:9683867, PMID:9008223 RGD:7365096, RGD:7483589 NCBI chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
JBrowse link
G RT1-Db1 RT1 class II, locus Db1 susceptibility ISO DNA:polymorphism: :DRB1*1101, DRB1*0701(human)
DNA:polymorphism: :HLA-DRB1*04(human)
RGD PMID:9683867, PMID:8052655 RGD:7365096, RGD:7365103 NCBI chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
JBrowse link
G Tnf tumor necrosis factor ISO protein:increased expression:Conjunctiva: RGD PMID:7750940 RGD:7394786 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
Congenital Erythroderma with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-IgE term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dsg1 desmoglein 1 ISO ClinVar Annotator: match by OMIM:615508 OMIM
ClinVar
PMID:23974871 NCBI chr18:12,008,301...12,040,337
Ensembl chr18:12,008,759...12,038,053
JBrowse link
contact dermatitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ager advanced glycosylation end product-specific receptor ISO RGD PMID:23594597 RGD:8695987 NCBI chr20:4,363,152...4,366,079
Ensembl chr20:4,363,152...4,366,079
JBrowse link
G Ahr aryl hydrocarbon receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:25724174 NCBI chr 6:54,963,990...55,001,806
Ensembl chr 6:54,963,990...55,001,464
JBrowse link
G Akr1b10 aldo-keto reductase family 1 member B10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25724174 NCBI chr 4:61,813,265...61,830,371
Ensembl chr 4:61,771,970...61,828,657
JBrowse link
G Akr1c2 aldo-keto reductase family 1, member C2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25724174 NCBI chr17:69,388,337...69,435,160
Ensembl chr17:69,388,335...69,404,341
JBrowse link
G Anxa1 annexin A1 ISO RGD PMID:23267026 RGD:7421573 NCBI chr 1:237,893,983...237,910,002
Ensembl chr 1:237,893,966...237,910,012
JBrowse link
G Bcl2 BCL2, apoptosis regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:25724174 NCBI chr13:26,605,426...26,769,374
Ensembl chr13:26,605,426...26,769,374
JBrowse link
G Casp8 caspase 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25724174 NCBI chr 9:65,614,142...65,662,624
Ensembl chr 9:65,614,142...65,662,106
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 ISO protein:increased expression:serum (mouse) RGD PMID:22679019 RGD:9590167 NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
JBrowse link
G Ccl27 C-C motif chemokine ligand 27 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25724174 NCBI chr 5:58,159,066...58,166,182
Ensembl chr 5:58,159,066...58,163,584
JBrowse link
G Ccn2 cellular communication network factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25724174 NCBI chr 1:21,851,657...21,854,773
Ensembl chr 1:21,851,660...21,854,773
JBrowse link
G Ccr1 C-C motif chemokine receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25724174 NCBI chr 8:132,996,646...133,002,201
Ensembl chr 8:132,996,649...133,002,201
JBrowse link
G Cd44 CD44 molecule (Indian blood group) ISO CTD Direct Evidence: marker/mechanism CTD PMID:25724174 NCBI chr 3:92,695,083...92,783,820
Ensembl chr 3:92,696,313...92,783,658
JBrowse link
G Cd46 CD46 molecule ISO RGD PMID:12055630 RGD:6483467 NCBI chr13:113,786,525...113,818,741
Ensembl chr13:113,787,349...113,817,995
JBrowse link
G Cd86 CD86 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:25724174 NCBI chr11:67,060,305...67,117,990
Ensembl chr11:67,082,193...67,118,795
JBrowse link
G Cldn1 claudin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23136956 NCBI chr11:77,815,216...77,830,373
Ensembl chr11:77,815,181...77,830,416
JBrowse link
G Crhr1 corticotropin releasing hormone receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12631246 NCBI chr10:92,191,473...92,233,662
Ensembl chr10:92,191,718...92,232,645
JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 ISO RGD PMID:11348467 RGD:7421503 NCBI chr 9:67,699,397...67,706,068
Ensembl chr 9:67,699,379...67,706,065
JBrowse link
G Ctss cathepsin S ISO CTD Direct Evidence: marker/mechanism CTD PMID:25724174 NCBI chr 2:197,655,780...197,679,768
Ensembl chr 2:197,655,786...197,679,458
JBrowse link
G Cxcl14 C-X-C motif chemokine ligand 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25724174 NCBI chr17:9,109,731...9,117,754
Ensembl chr17:9,109,731...9,117,750
JBrowse link
G Cxcr3 C-X-C motif chemokine receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25724174 NCBI chr  X:71,614,346...71,616,997
Ensembl chr  X:71,614,346...71,616,997
JBrowse link
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25724174 NCBI chr 8:62,472,087...62,478,122
Ensembl chr 8:62,472,095...62,478,147
JBrowse link
G Cyp1b1 cytochrome P450, family 1, subfamily b, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25724174 NCBI chr 6:2,308,179...2,316,739
Ensembl chr 6:2,307,808...2,316,722
JBrowse link
G Ddit3 DNA-damage inducible transcript 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25724174 NCBI chr 7:70,578,564...70,585,074
Ensembl chr 7:70,580,198...70,585,084
JBrowse link
G Defb1 defensin beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25724174 NCBI chr16:75,294,385...75,309,127
Ensembl chr16:75,294,376...75,309,176
JBrowse link
G Dusp1 dual specificity phosphatase 1 treatment ISO CTD Direct Evidence: marker/mechanism CTD PMID:25724174, PMID:23076500 RGD:7771535 NCBI chr10:16,970,642...16,973,425
Ensembl chr10:16,970,626...16,973,418
JBrowse link
G Esr2 estrogen receptor 2 severity ISO RGD PMID:18167605 RGD:8694123 NCBI chr 6:99,163,953...99,214,711
Ensembl chr 6:99,164,357...99,214,251
JBrowse link
G F11r F11 receptor ISO RGD PMID:15343392 RGD:7488917 NCBI chr13:89,826,272...89,850,151
Ensembl chr13:89,826,254...89,850,612
JBrowse link
G Fabp4 fatty acid binding protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25724174 NCBI chr 2:93,792,666...93,797,267
Ensembl chr 2:93,792,601...93,797,305
JBrowse link
G Flg filaggrin ISO CTD Direct Evidence: marker/mechanism CTD PMID:25724174 NCBI chr 2:193,565,401...193,574,297 JBrowse link
G Fth1 ferritin heavy chain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25724174 NCBI chr 1:226,030,940...226,033,228
Ensembl chr 1:226,030,938...226,033,228
JBrowse link
G G6pd glucose-6-phosphate dehydrogenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:25724174 NCBI chr  X:156,274,800...156,293,935
Ensembl chr  X:156,274,800...156,293,926
JBrowse link
G Gclc glutamate-cysteine ligase, catalytic subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:25724174 NCBI chr 8:85,059,051...85,097,471
Ensembl chr 8:85,059,051...85,097,468
JBrowse link
G Glb1 galactosidase, beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25724174 NCBI chr 8:122,439,328...122,511,939
Ensembl chr 8:122,439,328...122,511,939
JBrowse link
G Gsr glutathione-disulfide reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:25724174 NCBI chr16:62,197,617...62,239,987
Ensembl chr16:62,197,617...62,241,361
JBrowse link
G Gss glutathione synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:25724174 NCBI chr 3:151,076,254...151,106,557
Ensembl chr 3:151,076,254...151,106,557
JBrowse link
G Gstp1 glutathione S-transferase pi 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25724174 NCBI chr 1:219,291,679...219,294,147
Ensembl chr 1:219,291,679...219,294,147
JBrowse link
G Hdac4 histone deacetylase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25724174 NCBI chr 9:99,052,945...99,299,715
Ensembl chr 9:99,057,089...99,299,715
JBrowse link
G Hmox1 heme oxygenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25724174 NCBI chr19:14,508,634...14,515,455
Ensembl chr19:14,508,616...14,515,456
JBrowse link
G Hsp90aa1 heat shock protein 90 alpha family class A member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25724174 NCBI chr 6:135,107,262...135,112,793
Ensembl chr 6:135,107,271...135,112,775
JBrowse link
G Hspb1 heat shock protein family B (small) member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25724174 NCBI chr12:23,839,390...23,841,051
Ensembl chr12:23,839,399...23,841,049
JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO RGD PMID:20182448 RGD:5685684 NCBI chr 8:22,035,287...22,047,049
Ensembl chr 8:22,035,256...22,047,059
JBrowse link
G Igfbp2 insulin-like growth factor binding protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25724174 NCBI chr 9:80,118,029...80,144,804
Ensembl chr 9:80,118,029...80,144,789
JBrowse link
G Igfbp6 insulin-like growth factor binding protein 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25724174 NCBI chr 7:143,749,385...143,754,018
Ensembl chr 7:143,749,221...143,754,054
JBrowse link
G Il13 interleukin 13 treatment ISO RGD PMID:19951958 RGD:8549563 NCBI chr10:38,982,909...38,985,466
Ensembl chr10:38,982,909...38,985,466
JBrowse link
G Il18 interleukin 18 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25724174 NCBI chr 8:55,009,666...55,016,286
Ensembl chr 8:54,993,859...55,016,299
JBrowse link
G Il4 interleukin 4 treatment ISO RGD PMID:12188032 RGD:7829776 NCBI chr10:38,963,979...38,969,531
Ensembl chr10:38,963,979...38,969,531
JBrowse link
G Ing1 inhibitor of growth family, member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25724174 NCBI chr16:83,277,055...83,278,120
Ensembl chr16:83,276,273...83,278,119
JBrowse link
G Kdr kinase insert domain receptor ISO RGD PMID:15500639 RGD:5684424 NCBI chr14:34,727,677...34,787,127
Ensembl chr14:34,727,623...34,787,183
JBrowse link
G Kif2c kinesin family member 2C ISO CTD Direct Evidence: marker/mechanism CTD PMID:25724174 NCBI chr 5:136,027,923...136,053,268
Ensembl chr 5:136,027,934...136,053,210
JBrowse link
G Krt10 keratin 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25724174 NCBI chr10:87,296,445...87,301,307
Ensembl chr10:87,296,451...87,300,736
JBrowse link
G Krt2 keratin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25724174 NCBI chr 7:143,412,858...143,420,463
Ensembl chr 7:143,412,858...143,420,027
JBrowse link
G Krt4 keratin 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25724174 NCBI chr 7:143,517,562...143,523,522
Ensembl chr 7:143,518,010...143,523,503
JBrowse link
G Lcn2 lipocalin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25724174 NCBI chr 3:11,414,189...11,417,534
Ensembl chr 3:11,414,186...11,417,546
JBrowse link
G LOC103694381 lymphotoxin-beta ISO RGD PMID:11390430 RGD:8548819 NCBI chr20:4,861,343...4,863,513
Ensembl chr20:4,861,335...4,863,198
JBrowse link
G Lta lymphotoxin alpha ISO RGD PMID:11390430 RGD:8548819 NCBI chr20:4,851,889...4,854,677
Ensembl chr20:4,852,496...4,854,677
JBrowse link
G Ltb lymphotoxin beta ISO RGD PMID:11390430 RGD:8548819 NCBI chr20:5,184,631...5,186,476
Ensembl chr20:5,184,515...5,186,503
JBrowse link
G Mlana melan-A ISO CTD Direct Evidence: marker/mechanism CTD PMID:25724174 NCBI chr 1:247,869,756...247,883,558
Ensembl chr 1:247,869,756...247,884,442
JBrowse link
G Mmp10 matrix metallopeptidase 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25724174 NCBI chr 8:5,734,348...5,742,243
Ensembl chr 8:5,734,348...5,742,243
JBrowse link
G Mmp8 matrix metallopeptidase 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25724174 NCBI chr 8:5,768,808...5,777,741
Ensembl chr 8:5,768,811...5,778,702
JBrowse link
G Nqo1 NAD(P)H quinone dehydrogenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25724174 NCBI chr19:38,422,210...38,437,103
Ensembl chr19:38,422,164...38,437,180
JBrowse link
G Nqo2 N-ribosyldihydronicotinamide:quinone reductase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25724174 NCBI chr17:32,131,847...32,158,559
Ensembl chr17:32,132,347...32,158,538
JBrowse link
G Nrg1 neuregulin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25724174 NCBI chr16:62,969,573...64,065,063
Ensembl chr16:63,837,216...64,057,434
JBrowse link
G Osm oncostatin M ISO CTD Direct Evidence: marker/mechanism CTD PMID:25724174 NCBI chr14:84,457,487...84,469,426
Ensembl chr14:84,465,515...84,470,409
JBrowse link
G Pir pirin ISO CTD Direct Evidence: marker/mechanism CTD PMID:25724174 NCBI chr  X:31,852,322...31,968,152
Ensembl chr  X:31,852,323...31,968,152
JBrowse link
G Prdx6 peroxiredoxin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25724174 NCBI chr13:79,077,567...79,088,113
Ensembl chr13:79,077,033...79,088,127
JBrowse link
G Psmd12 proteasome 26S subunit, non-ATPase 12 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25724174 NCBI chr10:95,706,808...95,725,452
Ensembl chr10:95,706,685...95,725,812
JBrowse link
G RT1-DMa RT1 class II, locus DMa ISO CTD Direct Evidence: marker/mechanism CTD PMID:18348411 NCBI chr20:3,935,512...3,938,915
Ensembl chr20:5,240,975...5,244,386
JBrowse link
G S100a8 S100 calcium binding protein A8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25724174 NCBI chr 2:190,073,239...190,074,333
Ensembl chr 2:190,073,815...190,074,354
JBrowse link
G Sell selectin L ISO RGD PMID:20182448 RGD:5685684 NCBI chr13:82,369,820...82,387,774
Ensembl chr13:82,369,493...82,387,631
JBrowse link
G Serpinb3 serpin family B member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25724174 NCBI chr13:27,186,701...27,193,211
Ensembl chr13:27,187,130...27,192,592
JBrowse link
G Serpinb3a serpin family B member 3A ISO CTD Direct Evidence: marker/mechanism CTD PMID:25724174 NCBI chr13:27,153,500...27,159,319
Ensembl chr13:27,153,925...27,158,628
JBrowse link
G Slc7a11 solute carrier family 7 member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25724174 NCBI chr 2:139,453,774...139,528,479
Ensembl chr 2:139,453,774...139,528,162
JBrowse link
G Sod1 superoxide dismutase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25724174 NCBI chr11:30,363,282...30,368,858
Ensembl chr11:30,363,280...30,368,862
JBrowse link
G Sod3 superoxide dismutase 3 ISO CTD Direct Evidence: therapeutic CTD PMID:17392825 NCBI chr14:60,958,583...60,971,143
Ensembl chr14:60,958,592...60,964,324
JBrowse link
G Stoml2 stomatin like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25724174 NCBI chr 5:58,472,561...58,476,158
Ensembl chr 5:58,472,550...58,476,251
JBrowse link
G Tlr4 toll-like receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18725520 NCBI chr 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052
JBrowse link
G Tlr8 toll-like receptor 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25724174 NCBI chr  X:28,539,158...28,562,803
Ensembl chr  X:28,539,158...28,562,803
JBrowse link
G Tnfsf9 TNF superfamily member 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25724174 NCBI chr 9:9,909,942...9,912,276
Ensembl chr 9:9,909,948...9,912,276
JBrowse link
G Tpsab1 tryptase alpha/beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25724174 NCBI chr10:14,701,253...14,703,668
Ensembl chr10:14,701,253...14,703,668
JBrowse link
G Txn1 thioredoxin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25724174 NCBI chr 5:75,049,735...75,057,731
Ensembl chr 5:75,049,747...75,057,752
JBrowse link
G Txnrd1 thioredoxin reductase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25724174 NCBI chr 7:26,946,124...26,984,400
Ensembl chr 7:26,946,125...26,984,400
JBrowse link
G Ugt1a1 UDP glucuronosyltransferase family 1 member A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25724174 NCBI chr 9:95,295,701...95,302,822
Ensembl chr 9:95,161,157...95,302,822
JBrowse link
G Ugt1a6 UDP glucuronosyltransferase family 1 member A6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25724174 NCBI chr 9:95,241,609...95,302,822
Ensembl chr 9:95,161,157...95,302,822
JBrowse link
G Vegfa vascular endothelial growth factor A ISO CTD Direct Evidence: marker/mechanism CTD PMID:25724174 NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
JBrowse link
De Sanctis-Cacchione syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ercc6 ERCC excision repair 6, chromatin remodeling factor ISO ClinVar Annotator: match by term: DE SANCTIS-CACCHIONE SYNDROME
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:7063265 PMID:9443879 PMID:10196384 PMID:10767341 PMID:11809892 PMID:18414213 PMID:18628313 PMID:18784753 PMID:19894250 PMID:20122405 PMID:20456449 PMID:21143350 PMID:21228398 PMID:22661500 PMID:22904069 PMID:23311583 PMID:23422418 PMID:23428416 PMID:24154677 PMID:25136123 PMID:25326635 PMID:25356239 PMID:25463447 PMID:25741868 PMID:25820262 PMID:26206375 PMID:26218421 PMID:26620705 PMID:27004399 PMID:27186691 PMID:27356891 PMID:28170084 PMID:28440418 PMID:28492532 PMID:29203878 PMID:29572252 PMID:29915382 NCBI chr16:8,734,028...8,804,610
Ensembl chr16:8,734,035...8,804,610
JBrowse link
dermatitis herpetiformis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eln elastin ISO RGD PMID:8256113 RGD:9585750 NCBI chr12:24,978,478...25,021,864
Ensembl chr12:24,978,483...25,021,863
JBrowse link
G Lta lymphotoxin alpha ISO DNA:polymorphism RGD PMID:7914110 RGD:8548777 NCBI chr20:4,851,889...4,854,677
Ensembl chr20:4,852,496...4,854,677
JBrowse link
G Tnf tumor necrosis factor ISO DNA:polymorphism:promoter RGD PMID:7914110 RGD:8548777 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Vegfa vascular endothelial growth factor A ISO mRNA:increased expression: : RGD PMID:7738351 RGD:7421578 NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
JBrowse link
Drug Eruptions term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alox5 arachidonate 5-lipoxygenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16502481 NCBI chr 4:148,398,004...148,446,308
Ensembl chr 4:148,398,892...148,446,303
JBrowse link
G Apoa1 apolipoprotein A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21055120 NCBI chr 8:50,525,091...50,526,875
Ensembl chr 8:50,525,091...50,526,875
JBrowse link
G Apoc2 apolipoprotein C2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21055120 NCBI chr 1:80,589,023...80,593,991
Ensembl chr 1:80,589,023...80,594,136
JBrowse link
G Apoc3 apolipoprotein C3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21055120 NCBI chr 8:50,529,318...50,531,498
Ensembl chr 8:50,529,318...50,531,498
JBrowse link
G Bdnf brain-derived neurotrophic factor ISO mRNA:increased expression:lymph node, ear: RGD PMID:19904815 RGD:8657071 NCBI chr 3:100,768,637...100,819,216
Ensembl chr 3:100,768,637...100,819,210
JBrowse link
G C4b complement C4B (Chido blood group) ISO CTD Direct Evidence: marker/mechanism CTD PMID:21055120 NCBI chr20:4,302,344...4,316,752
Ensembl chr20:4,302,344...4,316,715
JBrowse link
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19351467 NCBI chr 8:62,472,087...62,478,122
Ensembl chr 8:62,472,095...62,478,147
JBrowse link
G Cyp2c6v1 cytochrome P450, family 2, subfamily C, polypeptide 6, variant 1 susceptibility ISO DNA:SNP: :Rs4244285(human) RGD PMID:23551241 RGD:11352742 NCBI chr 1:147,713,879...147,814,410
Ensembl chr 1:147,713,892...147,888,007
JBrowse link
G Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19351467 NCBI chr 1:213,511,892...213,522,195
Ensembl chr 1:213,511,874...213,535,542
JBrowse link
G Fcer1a Fc fragment of IgE receptor Ia ISO CTD Direct Evidence: marker/mechanism CTD PMID:16502481 NCBI chr13:91,727,253...91,737,106
Ensembl chr13:91,730,925...91,737,053
JBrowse link
G Ifng interferon gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:31150805 NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
JBrowse link
G Il17a interleukin 17A ISO CTD Direct Evidence: marker/mechanism CTD PMID:31150805 NCBI chr 9:26,841,299...26,844,786
Ensembl chr 9:26,841,299...26,844,786
JBrowse link
G Il18 interleukin 18 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18204966 NCBI chr 8:55,009,666...55,016,286
Ensembl chr 8:54,993,859...55,016,299
JBrowse link
G Il2 interleukin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31150805 NCBI chr 2:123,847,150...123,851,854
Ensembl chr 2:123,847,150...123,851,854
JBrowse link
G Il4 interleukin 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19351467 NCBI chr10:38,963,979...38,969,531
Ensembl chr10:38,963,979...38,969,531
JBrowse link
G Kng2 kininogen 2 ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:1371395 PMID:3034372 NCBI chr11:81,509,185...81,516,759 JBrowse link
G Mpo myeloperoxidase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18204966 NCBI chr10:75,087,892...75,098,260
Ensembl chr10:75,087,892...75,098,260
JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:14723717 NCBI chr 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
JBrowse link
G Rela RELA proto-oncogene, NF-kB subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:31150805 NCBI chr 1:220,992,770...221,003,249
Ensembl chr 1:220,992,770...221,003,249
JBrowse link
G RT1-Ba RT1 class II, locus Ba susceptibility ISO DNA:polymorphisms:exon: RGD PMID:16836882 RGD:8547665 NCBI chr20:4,066,133...4,070,726
Ensembl chr20:4,066,132...4,070,721
JBrowse link
G RT1-Bb RT1 class II, locus Bb ISO CTD Direct Evidence: marker/mechanism CTD PMID:16502481 NCBI chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
JBrowse link
G Tac1 tachykinin, precursor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:1371395 NCBI chr 4:33,638,853...33,646,819
Ensembl chr 4:33,638,709...33,646,819
JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:31150805 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Ttr transthyretin ISO CTD Direct Evidence: marker/mechanism CTD PMID:21055120 NCBI chr18:15,532,963...15,542,180
Ensembl chr18:15,532,963...15,540,177
JBrowse link
Drug Hypersensitivity Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hspa1l heat shock protein family A (Hsp70) member 1 like ISO DNA:polymorphism, haplotype: :p.M493T (human) RGD PMID:15024131 RGD:8662461 NCBI chr20:4,879,998...4,965,191
Ensembl chr20:4,959,294...4,964,963
JBrowse link
G Il1b interleukin 1 beta ISO DNA:SNP:promoter:-511C>T (rs 16944) (human) RGD PMID:23461376 RGD:11051970 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO DNA:SNP:intron:rs2234663 (human) RGD PMID:23461376 RGD:11051970 NCBI chr 3:1,449,778...1,468,624
Ensembl chr 3:1,452,644...1,468,614
JBrowse link
Eczema term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd14 CD14 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:19759553 NCBI chr18:29,560,341...29,562,290
Ensembl chr18:29,560,365...29,562,153
JBrowse link
G Cd80 Cd80 molecule ISO DNA:SNP RGD PMID:22192168 RGD:6893665 NCBI chr11:64,815,201...64,855,293
Ensembl chr11:64,827,635...64,855,353
JBrowse link
G Dock8 dedicator of cytokinesis 8 ISO DNA:mutations: : RGD PMID:22534316 RGD:40902960 NCBI chr 1:242,934,685...243,153,472
Ensembl chr 1:242,959,488...243,153,465
JBrowse link
G Flg filaggrin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Eczema
CTD
ClinVar
PMID:16444271 PMID:16550169 PMID:16815158 PMID:17030239 PMID:17417636 PMID:18325573 PMID:19501237 PMID:19839980 PMID:19874431 PMID:21514438 PMID:22403702 PMID:23947670 PMID:24033266 PMID:24920311 PMID:25741868 PMID:27279822 PMID:27363669 PMID:31637781 NCBI chr 2:193,565,401...193,574,297 JBrowse link
G Havcr2 hepatitis A virus cellular receptor 2 ISO RGD PMID:16159638 RGD:5128852 NCBI chr10:31,561,838...31,590,624
Ensembl chr10:31,561,895...31,588,943
JBrowse link
G Ifngr1 interferon gamma receptor 1 resistance ISO DNA: snps: rs7749390, rs10457655
DNA: insertion: exon 5: neo cassette
RGD PMID:21458658, PMID:21458658 RGD:6480259, RGD:6480259 NCBI chr 1:15,062,380...15,080,815
Ensembl chr 1:15,062,432...15,080,907
JBrowse link
G Il13 interleukin 13 no_association ISO DNA:polymorphisms: :multiple
DNA:SNP:CDS:p.R130Q (rs20541) (human)
RGD PMID:18410415, PMID:23815671 RGD:8549512, RGD:8549530 NCBI chr10:38,982,909...38,985,466
Ensembl chr10:38,982,909...38,985,466
JBrowse link
G Il18 interleukin 18 ISO DNA:SNPs:promoter, exon:multiple RGD PMID:15806006 RGD:8655937 NCBI chr 8:55,009,666...55,016,286
Ensembl chr 8:54,993,859...55,016,299
JBrowse link
G Il4r interleukin 4 receptor susceptibility ISO DNA:SNP: : rs2057768 (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:19759553, PMID:20002627 RGD:4890389 NCBI chr 1:196,942,343...196,967,221
Ensembl chr 1:196,942,364...196,967,220
JBrowse link
G Plau plasminogen activator, urokinase ISO RGD PMID:19416247 RGD:6483821 NCBI chr15:3,644,296...3,650,765
Ensembl chr15:3,644,769...3,650,819
JBrowse link
G Stat4 signal transducer and activator of transcription 4 ISO RGD PMID:22192168 RGD:6893665 NCBI chr 9:54,340,649...54,457,753
Ensembl chr 9:54,287,541...54,484,533
JBrowse link
G Xdh xanthine dehydrogenase ISO ClinVar Annotator: match by term: Eczema ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:25,149,570...25,211,273
Ensembl chr 6:25,149,235...25,211,494
JBrowse link
Eosinophilic Pustular Folliculitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccl26 C-C motif chemokine ligand 26 ISO protein:increased expression:skin, sebocyte (human) RGD PMID:22206772 RGD:11081159 NCBI chr12:24,157,182...24,161,870
Ensembl chr12:24,158,766...24,161,869
JBrowse link
epidermolysis bullosa term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Exph5 exophilin 5 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:57,885,932...57,962,574
Ensembl chr 8:57,886,168...57,962,708
JBrowse link
G Itgb4 integrin subunit beta 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18348258 NCBI chr10:104,524,000...104,560,180
Ensembl chr10:104,523,996...104,561,078
JBrowse link
epidermolysis bullosa dystrophica term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col7a1 collagen type VII alpha 1 chain susceptibility ISO DNA:insertion-deletion
ClinVar Annotator: match by term: Epidermolysis bullosa dystrophica, AD, Epidermolysis bullosa dystrophica, AR
ClinVar Annotator: match by term: Hallopeau-Siemens Disease
ClinVar Annotator: match by term: Dystrophic epidermolysis bullosa
ClinVar Annotator: match by OMIM:226600
ClinVar
OMIM
PMID:7577595 PMID:7833933 PMID:8755915 PMID:9242516 PMID:9326325 PMID:9668111 PMID:9740253 PMID:9804332 PMID:9881948 PMID:10084325 PMID:10408773 PMID:10469344 PMID:10504458 PMID:10944088 PMID:11781296 PMID:11843659 PMID:12485454 PMID:12653705 PMID:12787275 PMID:12813757 PMID:15550148 PMID:15816848 PMID:15888141 PMID:16271705 PMID:16439963 PMID:16484981 PMID:16500083 PMID:16971478 PMID:17425959 PMID:17501948 PMID:17916216 PMID:18414213 PMID:18440202 PMID:18558993 PMID:18565177 PMID:18951764 PMID:19439919 PMID:19681861 PMID:19814614 PMID:20184583 PMID:20357813 PMID:20585476 PMID:20598510 PMID:21448560 PMID:21471992 PMID:22070715 PMID:22266148 PMID:23237810 PMID:23786535 PMID:24032424 PMID:24033266 PMID:24210835 PMID:24252097 PMID:24279917 PMID:24831336 PMID:24947307 PMID:25155989 PMID:25525159 PMID:25741868 PMID:25819062 PMID:26076072 PMID:26102279 PMID:26148662 PMID:26763448 PMID:27153395 PMID:27544590 PMID:27899325 PMID:28492532 PMID:28853495 PMID:29130490, PMID:8275094 RGD:1600946 NCBI chr 8:117,694,441...117,726,844
Ensembl chr 8:117,694,605...117,726,844
JBrowse link
G Igfbp3 insulin-like growth factor binding protein 3 ISO mRNA,protein:decreased expression:skin: RGD PMID:15140235 RGD:12743601 NCBI chr14:87,457,647...87,465,374
Ensembl chr14:87,457,647...87,465,374
JBrowse link
G Mmp1 matrix metallopeptidase 1 severity ISO DNA:insertion:promoter:g.-1607_-1606insG (human) OMIM PMID:18030675 RGD:8549728 NCBI chr 8:5,703,206...5,723,593
Ensembl chr 8:5,703,206...5,723,591
JBrowse link
Epidermolysis Bullosa Dystrophica, Autosomal Recessive, Localisata Variant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col7a1 collagen type VII alpha 1 chain ISO ClinVar Annotator: match by null ClinVar PMID:8755915 PMID:9804332 PMID:16965329 NCBI chr 8:117,694,441...117,726,844
Ensembl chr 8:117,694,605...117,726,844
JBrowse link
Epidermolysis Bullosa Pruriginosa term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col7a1 collagen type VII alpha 1 chain ISO ClinVar Annotator: match by term: Epidermolysis bullosa pruriginosa
ClinVar Annotator: match by term: DYSTROPHIC EPIDERMOLYSIS BULLOSA PRURIGINOSA
ClinVar Annotator: match by term: Epidermolysis bullosa pruriginosa, autosomal recessive
ClinVar Annotator: match by term: Epidermolysis bullosa pruriginosa, autosomal dominant
OMIM
ClinVar
PMID:8755915 PMID:9182828 PMID:9242516 PMID:9718359 PMID:9856844 PMID:9881948 PMID:10383749 PMID:10408773 PMID:11781296 PMID:12485454 PMID:12787275 PMID:15888141 PMID:16965329 PMID:16971478 PMID:17434045 PMID:19665875 PMID:19681861 PMID:20598510 PMID:21448560 PMID:22266148 PMID:24033266 PMID:25741868 PMID:26076072 PMID:26148662 PMID:28492532 PMID:28830826 PMID:32860008 NCBI chr 8:117,694,441...117,726,844
Ensembl chr 8:117,694,605...117,726,844
JBrowse link
epidermolysis bullosa simplex term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dst dystonin ISS OMIM:601001 | OMIM:615425 MouseDO NCBI chr 9:37,902,336...38,296,961
Ensembl chr 9:37,902,303...38,196,273
JBrowse link
G Itgb4 integrin subunit beta 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:104,524,000...104,560,180
Ensembl chr10:104,523,996...104,561,078
JBrowse link
G Krt14 keratin 14 susceptibility ISO DNA:point mutations
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Epidermolysis bullosa simplex
CTD
ClinVar
PMID:1717157 PMID:10583131 PMID:11331879 PMID:20151404 PMID:25326635 PMID:25741868, PMID:1717157 RGD:1600173 NCBI chr10:88,118,029...88,122,233
Ensembl chr10:88,055,823...88,122,233
JBrowse link
G Krt5 keratin 5 susceptibility ISO DNA:mutation
ClinVar Annotator: match by term: Epidermolysis bullosa simplex
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:7682695 PMID:16465624 PMID:20199538 PMID:21375516 PMID:25741868 PMID:28492532, PMID:1372711 RGD:1600195 NCBI chr 7:143,320,142...143,324,536
Ensembl chr 7:143,316,920...143,453,546
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO RGD PMID:23894602 RGD:13204851 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
G Plec plectin ISO DNA:deletions: ; 2719de19, 5866delC; associated with muscular dystrophies RGD PMID:8894687 RGD:1599911 NCBI chr 7:117,230,319...117,291,859
Ensembl chr 7:117,230,319...117,289,961
JBrowse link
epidermolysis bullosa simplex Dowling-Meara type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt14 keratin 14 ISO ClinVar Annotator: match by term: Epidermolysis bullosa herpetiformis, Dowling-Meara ClinVar
OMIM
PMID:1717157 PMID:9804355 PMID:10583131 PMID:10730767 PMID:10733662 PMID:11331879 PMID:16098032 PMID:20151404 PMID:25326635 PMID:25741868 NCBI chr10:88,118,029...88,122,233
Ensembl chr10:88,055,823...88,122,233
JBrowse link
G Krt5 keratin 5 ISO ClinVar Annotator: match by term: Epidermolysis bullosa herpetiformis, Dowling-Meara
ClinVar Annotator: match by term: Epidermolysis bullosa simplex Dowling-Meara type
ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Dowling-Meara type, with severe palmoplantar keratoderma
ClinVar
OMIM
PMID:1372711 PMID:8757772 PMID:10234505 PMID:10383750 PMID:10730767 PMID:16882168 PMID:20030639 PMID:26743602 PMID:28561874 NCBI chr 7:143,320,142...143,324,536
Ensembl chr 7:143,316,920...143,453,546
JBrowse link
epidermolysis bullosa simplex generalized type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Klhl24 kelch-like family member 24 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Koebner type ClinVar PMID:25741868 PMID:27798626 PMID:27889062 NCBI chr11:84,613,101...84,643,674
Ensembl chr11:84,615,760...84,633,504
JBrowse link
G Krt14 keratin 14 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Koebner type ClinVar
OMIM
PMID:1703046 PMID:1720261 PMID:7682883 NCBI chr10:88,118,029...88,122,233
Ensembl chr10:88,055,823...88,122,233
JBrowse link
G Krt5 keratin 5 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Koebner type
ClinVar Annotator: match by term: Epidermolysis bullosa simplex, generalized, with severe palmoplantar keratosis
ClinVar
OMIM
PMID:1718160 PMID:7520042 PMID:7534039 PMID:7686424 PMID:8807337 PMID:9740251 PMID:11407988 PMID:11407989 PMID:20199538 PMID:25741868 NCBI chr 7:143,320,142...143,324,536
Ensembl chr 7:143,316,920...143,453,546
JBrowse link
epidermolysis bullosa simplex localized type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Galk1 galactokinase 1 ISO ClinVar Annotator: match by term: Localized epidermolysis bullosa simplex ClinVar PMID:25741868 NCBI chr10:104,560,322...104,564,499
Ensembl chr10:104,560,303...104,564,480
JBrowse link
G Itgb4 integrin subunit beta 4 ISO ClinVar Annotator: match by term: Localized epidermolysis bullosa simplex OMIM
ClinVar
PMID:12485428 PMID:25741868 NCBI chr10:104,524,000...104,560,180
Ensembl chr10:104,523,996...104,561,078
JBrowse link
G Krt14 keratin 14 ISO ClinVar Annotator: match by term: Localized epidermolysis bullosa simplex OMIM
ClinVar
PMID:7506606 PMID:7561171 PMID:9284105 NCBI chr10:88,118,029...88,122,233
Ensembl chr10:88,055,823...88,122,233
JBrowse link
G Krt5 keratin 5 ISO ClinVar Annotator: match by term: Localized epidermolysis bullosa simplex OMIM
ClinVar
PMID:7520042 PMID:7537780 PMID:7688477 PMID:8807337 PMID:11973334 PMID:12648226 PMID:16098032 PMID:16882168 PMID:20030639 PMID:25741868 PMID:26743602 PMID:28492532 PMID:28561874 NCBI chr 7:143,320,142...143,324,536
Ensembl chr 7:143,316,920...143,453,546
JBrowse link
epidermolysis bullosa simplex Ogna type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Plec plectin ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Ogna type
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 1
ClinVar Annotator: match by OMIM:131950
OMIM
ClinVar
PMID:11851880 PMID:15810881 PMID:18414213 PMID:20016501 PMID:22864774 PMID:25741868 PMID:26467025 PMID:28400893 PMID:28492532 PMID:29334134 NCBI chr 7:117,230,319...117,291,859
Ensembl chr 7:117,230,319...117,289,961
JBrowse link
Epidermolysis Bullosa Simplex with Migratory Circinate Erythema term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt5 keratin 5 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex with migratory circinate erythema OMIM
ClinVar
PMID:7520042 PMID:8807337 PMID:12925204 PMID:15324323 PMID:25741868 NCBI chr 7:143,320,142...143,324,536
Ensembl chr 7:143,316,920...143,453,546
JBrowse link
epidermolysis bullosa simplex with mottled pigmentation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt5 keratin 5 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex with mottled pigmentation OMIM
ClinVar
PMID:2476664 PMID:8799157 PMID:9129237 PMID:10494094 PMID:11167681 PMID:16882168 PMID:20030639 PMID:20923750 PMID:26743602 PMID:28561874 NCBI chr 7:143,320,142...143,324,536
Ensembl chr 7:143,316,920...143,453,546
JBrowse link
epidermolysis bullosa simplex with muscular dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adck5 aarF domain containing kinase 5 ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY ClinVar PMID:28492532 NCBI chr 7:117,643,976...117,661,789
Ensembl chr 7:117,643,206...117,661,845
JBrowse link
G Bop1 BOP1 ribosomal biogenesis factor ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY ClinVar PMID:28492532 NCBI chr 7:117,514,529...117,538,342
Ensembl chr 7:117,514,533...117,538,342
JBrowse link
G Cpsf1 cleavage and polyadenylation specific factor 1 ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY ClinVar PMID:28492532 NCBI chr 7:117,661,779...117,672,373
Ensembl chr 7:117,661,661...117,672,373
JBrowse link
G Cyc1 cytochrome c-1 ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY ClinVar PMID:28492532 NCBI chr 7:117,409,576...117,411,953
Ensembl chr 7:117,409,576...117,411,953
JBrowse link
G Cyhr1 cysteine and histidine rich 1 ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY ClinVar PMID:28492532 NCBI chr 7:117,720,909...117,722,734
Ensembl chr 7:117,706,727...117,722,723
JBrowse link
G Dgat1 diacylglycerol O-acyltransferase 1 ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY ClinVar PMID:28492532 NCBI chr 7:117,566,363...117,576,735
Ensembl chr 7:117,566,368...117,576,737
JBrowse link
G Exosc4 exosome component 4 ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY ClinVar PMID:28492532 NCBI chr 7:117,390,302...117,393,044
Ensembl chr 7:117,390,285...117,393,719
JBrowse link
G Fbxl6 F-box and leucine-rich repeat protein 6 ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY ClinVar PMID:28492532 NCBI chr 7:117,602,056...117,604,954
Ensembl chr 7:117,602,041...117,605,141
JBrowse link
G Foxh1 forkhead box H1 ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY ClinVar PMID:28492532 NCBI chr 7:117,730,307...117,733,076
Ensembl chr 7:117,730,307...117,732,387
JBrowse link
G Gpaa1 glycosylphosphatidylinositol anchor attachment 1 ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY ClinVar PMID:28492532 NCBI chr 7:117,394,367...117,397,950
Ensembl chr 7:117,394,372...117,397,956
JBrowse link
G Grina glutamate ionotropic receptor NMDA type subunit associated protein 1 ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY ClinVar PMID:28492532 NCBI chr 7:117,304,742...117,307,916
Ensembl chr 7:117,304,742...117,307,916
JBrowse link
G Hgh1 HGH1 homolog ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY ClinVar PMID:28492532 NCBI chr 7:117,434,419...117,437,208
Ensembl chr 7:117,434,419...117,437,205
JBrowse link
G Hsf1 heat shock transcription factor 1 ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY ClinVar PMID:28492532 NCBI chr 7:117,538,523...117,565,478
Ensembl chr 7:117,538,523...117,565,478
JBrowse link
G Kifc2 kinesin family member C2 ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY ClinVar PMID:28492532 NCBI chr 7:117,722,732...117,730,702
Ensembl chr 7:117,723,263...117,730,702
JBrowse link
G Maf1 MAF1 homolog, negative regulator of RNA polymerase III ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY ClinVar PMID:28492532 NCBI chr 7:117,417,643...117,420,722
Ensembl chr 7:117,417,687...117,420,719
JBrowse link
G Mroh1 maestro heat-like repeat family member 1 ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY ClinVar PMID:28492532 NCBI chr 7:117,445,191...117,472,418
Ensembl chr 7:117,445,144...117,514,612
JBrowse link
G Oplah 5-oxoprolinase (ATP-hydrolysing) ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY ClinVar PMID:28492532 NCBI chr 7:117,353,951...117,394,205
Ensembl chr 7:117,353,786...117,369,159
JBrowse link
G Parp10 poly (ADP-ribose) polymerase family, member 10 ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY ClinVar PMID:28492532 NCBI chr 7:117,291,592...117,300,878
Ensembl chr 7:117,291,877...117,300,662
JBrowse link
G Plec plectin ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex with muscular dystrophy
ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY
ClinVar Annotator: match by term: Epidermolysa bullosa simplex and limb girdle muscular dystrophy
ClinVar Annotator: match by null
ClinVar Annotator: match by OMIM:226670
OMIM
ClinVar
PMID:8696340 PMID:8830774 PMID:8894687 PMID:10446808 PMID:10652002 PMID:15654962 PMID:15810881 PMID:18414213 PMID:19945614 PMID:20016501 PMID:20665883 PMID:21263134 PMID:22864774 PMID:23289980 PMID:23774525 PMID:24033266 PMID:25741868 PMID:25987458 PMID:26467025 PMID:27392081 PMID:28400893 PMID:28492532 PMID:29050564 PMID:29334134 PMID:29797489 PMID:31319225 PMID:31641117 NCBI chr 7:117,230,319...117,291,859
Ensembl chr 7:117,230,319...117,289,961
JBrowse link
G Scrt1 scratch family transcriptional repressor 1 ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY ClinVar PMID:28492532 NCBI chr 7:117,583,453...117,587,103
Ensembl chr 7:117,583,453...117,587,103
JBrowse link
G Scx scleraxis bHLH transcription factor ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY ClinVar PMID:28492532 NCBI chr 7:117,519,075...117,521,093
Ensembl chr 7:117,519,075...117,521,093
JBrowse link
G Sharpin SHANK-associated RH domain interactor ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY ClinVar PMID:28492532 NCBI chr 7:117,413,151...117,417,455
Ensembl chr 7:117,413,152...117,417,363
JBrowse link
G Slc39a4 solute carrier family 39 member 4 ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY ClinVar PMID:28492532 NCBI chr 7:117,675,718...117,682,586
Ensembl chr 7:117,675,720...117,680,004
JBrowse link
G Slc52a2 solute carrier family 52 member 2 ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY ClinVar PMID:28492532 NCBI chr 7:117,605,038...117,608,460
Ensembl chr 7:117,605,050...117,608,460
JBrowse link
G Spatc1 spermatogenesis and centriole associated 1 ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY ClinVar PMID:28492532 NCBI chr 7:117,326,279...117,349,957
Ensembl chr 7:117,326,279...117,349,957
JBrowse link
G Tmem249 transmembrane protein 249 ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY ClinVar PMID:28492532 NCBI chr 7:117,599,001...117,601,894 JBrowse link
G Tonsl tonsoku-like, DNA repair protein ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY ClinVar PMID:28492532 NCBI chr 7:117,688,397...117,703,139
Ensembl chr 7:117,688,397...117,703,094
JBrowse link
G Vps28 VPS28 subunit of ESCRT-I ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY ClinVar PMID:28492532 NCBI chr 7:117,684,339...117,688,187
Ensembl chr 7:117,684,339...117,688,187
JBrowse link
Epidermolysis Bullosa Simplex with Nail Dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arhgap10 Rho GTPase activating protein 10 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy ClinVar NCBI chr19:34,138,978...34,406,593
Ensembl chr19:34,139,997...34,402,436
JBrowse link
G Bclaf1 BCL2-associated transcription factor 1 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy ClinVar NCBI chr 1:15,799,753...15,828,838
Ensembl chr 1:15,782,477...15,860,624
JBrowse link
G Dcun1d2 defective in cullin neddylation 1 domain containing 2 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy ClinVar NCBI chr16:81,008,177...81,034,869
Ensembl chr16:81,587,446...81,614,553
Ensembl chr16:81,587,446...81,614,553
JBrowse link
G Frem2 FRAS1 related extracellular matrix 2 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy ClinVar NCBI chr 2:142,747,501...142,885,604
Ensembl chr 2:142,747,501...142,885,604
JBrowse link
G Gpr33 G protein-coupled receptor 33 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy ClinVar NCBI chr 6:72,804,843...72,805,848
Ensembl chr 6:72,804,843...72,805,848
JBrowse link
G Hrnr hornerin ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy ClinVar NCBI chr 2:193,626,283...193,639,848
Ensembl chr 2:193,627,243...193,634,181
JBrowse link
G Ids iduronate 2-sulfatase ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy ClinVar NCBI chr 8:69,447,971...69,466,708
Ensembl chr 8:69,449,801...69,466,618
JBrowse link
G Plec plectin ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy OMIM
ClinVar
PMID:15810881 PMID:25712130 PMID:25741868 PMID:26167114 PMID:28492532 NCBI chr 7:117,230,319...117,291,859
Ensembl chr 7:117,230,319...117,289,961
JBrowse link
G Rp1l1 RP1 like 1 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy ClinVar NCBI chr15:47,344,380...47,384,461
Ensembl chr15:47,373,120...47,383,508
JBrowse link
G Tmem249 transmembrane protein 249 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy ClinVar NCBI chr 7:117,599,001...117,601,894 JBrowse link
Epidermolysis Bullosa Simplex with Pyloric Atresia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Plec plectin ISO ClinVar Annotator: match by term: EBS WITH PYLORIC ATRESIA
ClinVar Annotator: match by null
ClinVar Annotator: match by OMIM:612138
OMIM
ClinVar
PMID:14675180 PMID:15654962 PMID:15681471 PMID:15810881 PMID:28492532 NCBI chr 7:117,230,319...117,291,859
Ensembl chr 7:117,230,319...117,289,961
JBrowse link
Epidermolysis Bullosa Simplex, Autosomal Recessive 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dst dystonin ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:37,902,336...38,296,961
Ensembl chr 9:37,902,303...38,196,273
JBrowse link
G Krt14 keratin 14 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex, autosomal recessive
ClinVar Annotator: match by null
ClinVar Annotator: match by OMIM:601001
OMIM
ClinVar
PMID:7525407 PMID:7525408 PMID:7526933 PMID:7561171 PMID:8875963 PMID:9284105 PMID:10971341 PMID:25741868 PMID:28492532 NCBI chr10:88,118,029...88,122,233
Ensembl chr10:88,055,823...88,122,233
JBrowse link
G Krt5 keratin 5 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex, autosomal recessive OMIM
ClinVar
PMID:11973334 NCBI chr 7:143,320,142...143,324,536
Ensembl chr 7:143,316,920...143,453,546
JBrowse link
Epidermolysis Bullosa Simplex, Autosomal Recessive 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dst dystonin ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex, autosomal recessive 2
ClinVar Annotator: match by OMIM:615425
OMIM
ClinVar
PMID:20164846 PMID:22113475 PMID:24033266 PMID:25059916 PMID:25741868 PMID:28492532 PMID:31474762 NCBI chr 9:37,902,336...38,296,961
Ensembl chr 9:37,902,303...38,196,273
JBrowse link
EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED, WITH SCARRING AND HAIR LOSS term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Klhl24 kelch-like family member 24 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex, generalized, with scarring and hair loss ClinVar
OMIM
PMID:25741868 PMID:27798626 PMID:27889062 NCBI chr11:84,613,101...84,643,674
Ensembl chr11:84,615,760...84,633,504
JBrowse link
epidermolysis bullosa with congenital localized absence of skin and deformity of nails term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col7a1 collagen type VII alpha 1 chain ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA DYSTROPHICA, BART TYPE OMIM
ClinVar
PMID:2425097 PMID:5910871 PMID:8618021 PMID:8755915 PMID:10408773 PMID:11710955 PMID:11781296 PMID:11843659 PMID:12485454 PMID:12787275 PMID:15888141 PMID:16971478 PMID:19681861 PMID:20598510 PMID:22266148 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 8:117,694,441...117,726,844
Ensembl chr 8:117,694,605...117,726,844
JBrowse link
Epidermolysis Bullosa, Lethal Acantholytic term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dsp desmoplakin ISO ClinVar Annotator: match by term: Lethal acantholytic epidermolysis bullosa
ClinVar Annotator: match by term: Epidermolysis bullosa, lethal acantholytic
ClinVar Annotator: match by OMIM:609638
OMIM
ClinVar
PMID:10395892 PMID:15210133 PMID:16175511 PMID:16774985 PMID:16917092 PMID:18382419 PMID:18632414 PMID:19863551 PMID:19924139 PMID:20031617 PMID:20129281 PMID:20152563 PMID:20302578 PMID:20400443 PMID:20435227 PMID:20525856 PMID:20613772 PMID:20716751 PMID:20738328 PMID:20829228 PMID:20864495 PMID:21062920 PMID:21397041 PMID:21606390 PMID:21606396 PMID:21636032 PMID:21723241 PMID:21756917 PMID:21859740 PMID:22214898 PMID:22949226 PMID:23137101 PMID:23292937 PMID:23299917 PMID:23381804 PMID:23396983 PMID:23465283 PMID:23514727 PMID:23524727 PMID:23861362 PMID:23911551 PMID:24033266 PMID:24055113 PMID:24070718 PMID:24125834 PMID:24448499 PMID:24503780 PMID:24704780 PMID:25163546 PMID:25196244 PMID:25225338 PMID:25351510 PMID:25447171 PMID:25550050 PMID:25569433 PMID:25616645 PMID:25637381 PMID:25661095 PMID:25676813 PMID:25691752 PMID:25693453 PMID:25741868 PMID:25820315 PMID:26073755 PMID:26138720 PMID:26230511 PMID:26332594 PMID:26383259 PMID:26498160 PMID:26569459 PMID:26585738 PMID:26604139 PMID:26656175 PMID:26743238 PMID:26833927 PMID:26899768 PMID:27000522 PMID:27097650 PMID:27153395 PMID:27194543 PMID:27329731 PMID:27435932 PMID:27532257 PMID:27707468 PMID:27884173 PMID:27930701 PMID:28074886 PMID:28087426 PMID:28254189 PMID:28301460 PMID:28341588 PMID:28416588 PMID:28473349 PMID:28492532 PMID:28527814 PMID:28759816 PMID:28798025 PMID:29511324 PMID:29750433 PMID:29759408 PMID:30354334 PMID:30775854 PMID:30820396 PMID:30919684 PMID:31264976 PMID:31333075 PMID:31568572 NCBI chr17:27,286,811...27,334,453
Ensembl chr17:27,286,796...27,334,379
JBrowse link
Epidermolysis Bullosa, Nonspecific, Autosomal Recessive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Exph5 exophilin 5 ISO ClinVar Annotator: match by This custom term has been created by RGD curators. OMIM
ClinVar
PMID:23176819 NCBI chr 8:57,885,932...57,962,574
Ensembl chr 8:57,886,168...57,962,708
JBrowse link
erythema multiforme term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd40 CD40 molecule ISO RGD PMID:18050371 RGD:8547765 NCBI chr 3:161,519,789...161,534,943
Ensembl chr 3:161,519,743...161,534,704
JBrowse link
G Cd40lg CD40 ligand ISO RGD PMID:18050371 RGD:8547765 NCBI chr  X:159,703,703...159,714,886
Ensembl chr  X:159,703,578...159,716,562
JBrowse link
G Masp2 MBL associated serine protease 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12904520 NCBI chr 5:165,415,105...165,429,857
Ensembl chr 5:165,415,136...165,430,054
JBrowse link
G RT1-Bb RT1 class II, locus Bb ISO DNA:polymorphisms (human) RGD PMID:9627123 RGD:5147868 NCBI chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
JBrowse link
G Vegfa vascular endothelial growth factor A ISO mRNA:increased expression: : RGD PMID:7738351 RGD:7421578 NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
JBrowse link
erythema nodosum term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C3 complement C3 ISO associated with Leprosy RGD PMID:2783924 RGD:7421527 NCBI chr 9:9,721,137...9,747,084
Ensembl chr 9:9,721,105...9,747,167
JBrowse link
G Cfb complement factor B ISO associated with Leprosy RGD PMID:2783924 RGD:7421527 NCBI chr20:4,536,206...4,542,073
Ensembl chr20:4,536,203...4,561,066
Ensembl chr20:4,536,203...4,561,066
JBrowse link
G Gstm1 glutathione S-transferase mu 1 susceptibility ISO associated with Behcet Syndrome;DNA:deletion:: (human) RGD PMID:22766250 RGD:7794848 NCBI chr 2:210,803,869...210,809,461
Ensembl chr 2:210,803,869...210,809,306
JBrowse link
G Lta lymphotoxin alpha ISO associated with Sarcoidosis;DNA:polymorphism:intron RGD PMID:19225544 RGD:8548773 NCBI chr20:4,851,889...4,854,677
Ensembl chr20:4,852,496...4,854,677
JBrowse link
G RT1-CE13 RT1 class I, locus CE13 ISO associated with Inflammatory Bowel Diseases; DNA:polymorphisms:cds:multiple (human) RGD PMID:12198697 RGD:7364926
G Tnf tumor necrosis factor susceptibility ISO associated with Inflammatory Bowel Diseases;DNA:polymorphisms: :-1031T>C(human) RGD PMID:12198697 RGD:7364926 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Vdr vitamin D receptor susceptibility ISO associated with Behcet Syndrome;DNA:polymorphism: : rs7975232(human) RGD PMID:24880677 RGD:13217417 NCBI chr 7:139,344,452...139,394,138
Ensembl chr 7:139,342,063...139,394,166
JBrowse link
Exfoliative Dermatitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Spink5 serine peptidase inhibitor, Kazal type 5 ISO ClinVar Annotator: match by term: Erythroderma ClinVar PMID:19683336 PMID:22089833 PMID:22377713 PMID:25665175 PMID:25741868 PMID:28289593 PMID:28492532 NCBI chr18:35,118,300...35,190,458
Ensembl chr18:35,121,967...35,191,069
Ensembl chr 1:35,121,967...35,191,069
JBrowse link
Hailey-Hailey disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp2c1 ATPase secretory pathway Ca2+ transporting 1 ISO ClinVar Annotator: match by term: Familial benign pemphigus
ClinVar Annotator: match by OMIM:169600
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:3978039 PMID:10615129 PMID:10767338 PMID:11450592 PMID:11874499 PMID:15545997 PMID:16621454 PMID:20338123 PMID:21883398 PMID:25741868 PMID:28492532 NCBI chr 8:113,953,959...114,039,965
Ensembl chr 8:113,955,647...114,013,623
JBrowse link
Hand-Foot Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kdr kinase insert domain receptor treatment ISO DNA:polymorphism:cds:p.H472Q(human) RGD PMID:20630084 RGD:8552374 NCBI chr14:34,727,677...34,787,127
Ensembl chr14:34,727,623...34,787,183
JBrowse link
hypotrichosis and recurrent skin vesicles term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dsc3 desmocollin 3 ISO ClinVar Annotator: match by OMIM:613102 ClinVar
OMIM
PMID:19765682 NCBI chr18:11,753,047...11,789,846
Ensembl chr18:11,753,047...11,789,708
JBrowse link
Ichthyosis Hystrix, Curth Macklin Type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt1 keratin 1 ISO OMIM NCBI chr 7:143,448,318...143,453,544
Ensembl chr 7:143,448,318...143,453,544
JBrowse link
Interstitial Lung Disease, Nephrotic Syndrome, and Epidermolysis Bullosa, Congenital term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Itga3 integrin subunit alpha 3 ISO ClinVar Annotator: match by term: Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital
ClinVar Annotator: match by OMIM:614748
OMIM
ClinVar
PMID:22512483 PMID:24088041 PMID:25741868 PMID:25810266 PMID:26633545 NCBI chr10:82,855,841...82,887,755
Ensembl chr10:82,855,613...82,887,497
JBrowse link
irritant dermatitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C2 complement C2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27258892 NCBI chr20:4,542,340...4,561,152
Ensembl chr20:4,542,340...4,561,152
JBrowse link
G Cbr1 carbonyl reductase 1 ISO CTD Direct Evidence: therapeutic CTD PMID:25818598 NCBI chr11:33,813,041...33,815,418
Ensembl chr11:33,845,463...33,847,793
JBrowse link
G Ier3 immediate early response 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27258892 NCBI chr20:3,438,798...3,440,002
Ensembl chr20:3,438,798...3,440,769
JBrowse link
G Il4 interleukin 4 IEP RGD PMID:19690449 RGD:2317271 NCBI chr10:38,963,979...38,969,531
Ensembl chr10:38,963,979...38,969,531
JBrowse link
G RT1-Ha RT1 class II, locus Ha ISO CTD Direct Evidence: marker/mechanism CTD PMID:27258892 NCBI chr20:3,875,478...3,885,140
Ensembl chr20:3,875,706...3,881,461
JBrowse link
G Stat3 signal transducer and activator of transcription 3 treatment ISO RGD PMID:21511023 RGD:8694305 NCBI chr10:88,790,401...88,842,263
Ensembl chr10:88,790,408...88,842,233
JBrowse link
G Trim10 tripartite motif-containing 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27258892 NCBI chr20:2,182,945...2,191,640
Ensembl chr20:2,182,941...2,191,640
JBrowse link
G Trim31 tripartite motif-containing 31 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27258892 NCBI chr20:2,146,245...2,159,875
Ensembl chr20:2,146,257...2,159,631
JBrowse link
G Trim40 tripartite motif-containing 40 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27258892 NCBI chr20:2,169,674...2,178,477
Ensembl chr20:2,169,545...2,178,601
JBrowse link
junctional epidermolysis bullosa term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col17a1 collagen type XVII alpha 1 chain susceptibility ISO ClinVar Annotator: match by term: Junctional epidermolysis bullosa
ClinVar Annotator: match by term: Epidermolysis bullosa, junctional
ClinVar PMID:25741868, PMID:7550320 RGD:1600884 NCBI chr 1:267,416,681...267,465,049
Ensembl chr 1:267,417,459...267,463,705
JBrowse link
G Itga6 integrin subunit alpha 6 ISO epidermolysis bullosa with pyloric atresia, OMIM:226730 RGD PMID:9185503 RGD:1600016 NCBI chr 3:58,442,904...58,515,124
Ensembl chr 3:58,443,101...58,515,124
JBrowse link
G Itgb4 integrin subunit beta 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:7545057 NCBI chr10:104,524,000...104,560,180
Ensembl chr10:104,523,996...104,561,078
JBrowse link
G Lama3 laminin subunit alpha 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:226700
CTD
ClinVar
PMID:12915477, PMID:8586427 RGD:1600080 NCBI chr18:3,704,866...3,941,215
Ensembl chr18:3,705,916...3,940,838
JBrowse link
G Lamb3 laminin subunit beta 3 susceptibility ISO DNA:nonsense mutation
ClinVar Annotator: match by term: Junctional epidermolysis bullosa
ClinVar Annotator: match by term: Epidermolysis bullosa, junctional
ClinVar Annotator: match by term: Junctional Epidermolysis Bullosa
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:226700
ClinVar
CTD
PMID:7698759 PMID:8824879 PMID:8983017 PMID:9205497 PMID:9242513 PMID:9326326 PMID:9767254 PMID:10577906 PMID:11023379 PMID:11296269 PMID:11298117 PMID:11451332 PMID:11689492 PMID:11810295 PMID:12813757 PMID:15311214 PMID:15538630 PMID:15663509 PMID:16473856 PMID:17476356 PMID:17916201 PMID:21801158 PMID:22931927 PMID:24033266 PMID:25708563 PMID:25741868 PMID:25950805 PMID:27062385 PMID:27375110 PMID:28492532 PMID:28561256 PMID:28830826 PMID:29334134 PMID:29900604, PMID:7698759 RGD:1600209 NCBI chr13:112,031,614...112,073,187
Ensembl chr13:112,031,594...112,073,186
JBrowse link
G Lamc2 laminin subunit gamma 2 susceptibility ISO DNA:splice-site mutation, deletion-insertion
ClinVar Annotator: match by term: Junctional epidermolysis bullosa
ClinVar Annotator: match by term: Epidermolysis bullosa, junctional
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:11810295 PMID:15370542 PMID:15373767 PMID:15538630 PMID:16473856 PMID:17916201 PMID:25741868 PMID:28492532 PMID:28830826 PMID:31395954, PMID:8012393 RGD:1600210 NCBI chr13:70,566,643...70,632,126
Ensembl chr13:70,566,643...70,626,252
JBrowse link
junctional epidermolysis bullosa Herlitz type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Itga6 integrin subunit alpha 6 ISS OMIM:226700 MouseDO NCBI chr 3:58,442,904...58,515,124
Ensembl chr 3:58,443,101...58,515,124
JBrowse link
G Lama3 laminin subunit alpha 3 ISO ClinVar Annotator: match by term: Herlitz-type junctional epidermolysis bullosa
ClinVar Annotator: match by term: Junctional epidermolysis bullosa gravis of Herlitz
ClinVar
OMIM
PMID:7633458 PMID:8530087 PMID:8586427 PMID:8618022 PMID:8824879 PMID:8983017 PMID:10366601 PMID:11810295 PMID:12915477 PMID:12943669 PMID:15373767 PMID:16473856 PMID:16971478 PMID:17362460 PMID:22434185 PMID:23869449 PMID:24033266 PMID:25363238 PMID:25525159 PMID:25741868 PMID:26635394 PMID:27375110 PMID:27827380 PMID:28087116 PMID:28492532 NCBI chr18:3,704,866...3,941,215
Ensembl chr18:3,705,916...3,940,838
JBrowse link
G Lamb3 laminin subunit beta 3 ISO ClinVar Annotator: match by term: Herlitz-type junctional epidermolysis bullosa
ClinVar Annotator: match by term: Junctional epidermolysis bullosa gravis of Herlitz
ClinVar
OMIM
PMID:7550237 PMID:7698759 PMID:7706760 PMID:8362910 PMID:8541876 PMID:8755931 PMID:8824879 PMID:8983017 PMID:9160387 PMID:9205497 PMID:9242513 PMID:9326326 PMID:9457915 PMID:9579554 PMID:9690563 PMID:9767254 PMID:9856852 PMID:10577906 PMID:11023379 PMID:11296269 PMID:11298117 PMID:11451332 PMID:11689492 PMID:11810295 PMID:12813757 PMID:15311214 PMID:15373767 PMID:15538630 PMID:15663509 PMID:15725250 PMID:16403119 PMID:16439963 PMID:16473856 PMID:16971478 PMID:17476356 PMID:17916201 PMID:21801158 PMID:22931927 PMID:23278291 PMID:24947307 PMID:25525159 PMID:25708563 PMID:25741868 PMID:25950805 PMID:27062385 PMID:27375110 PMID:27480391 PMID:28087116 PMID:28392661 PMID:28492532 PMID:28830826 PMID:29334134 PMID:29900604 PMID:30544381 NCBI chr13:112,031,614...112,073,187
Ensembl chr13:112,031,594...112,073,186
JBrowse link
G Lamc2 laminin subunit gamma 2 ISO ClinVar Annotator: match by term: Herlitz-type junctional epidermolysis bullosa
ClinVar Annotator: match by term: Junctional epidermolysis bullosa gravis of Herlitz
ClinVar
OMIM
PMID:7849725 PMID:8012393 PMID:8012394 PMID:8824879 PMID:8983017 PMID:9085255 PMID:10951251 PMID:11231327 PMID:11564184 PMID:11810295 PMID:11907499 PMID:15373767 PMID:16473856 PMID:17916201 PMID:25741868 PMID:27696112 PMID:28492532 PMID:31395954 NCBI chr13:70,566,643...70,632,126
Ensembl chr13:70,566,643...70,626,252
JBrowse link
junctional epidermolysis bullosa non-Herlitz type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col17a1 collagen type XVII alpha 1 chain ISO ClinVar Annotator: match by term: Junctional epidermolysis bullosa, non-Herlitz type
ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA JUNCTIONALIS, NON-HERLITZ TYPE
ClinVar Annotator: match by term: Epidermolysis bullosa, junctional, localisata variant
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:226650
ClinVar Annotator: match by synonym: Epidermolysis bullosa, junctional, localisata variant
OMIM
ClinVar
CTD
PMID:7092249 PMID:7550320 PMID:9012408 PMID:9077475 PMID:9199555 PMID:9204958 PMID:9457913 PMID:9457914 PMID:9583744 PMID:9740252 PMID:10398261 PMID:10577906 PMID:10636730 PMID:10951237 PMID:11406649 PMID:12813757 PMID:14614394 PMID:16354180 PMID:19340010 PMID:21357940 PMID:24033266 PMID:24550734 PMID:24668667 PMID:24814191 PMID:25741868 PMID:25803036 PMID:28492532 NCBI chr 1:267,416,681...267,465,049
Ensembl chr 1:267,417,459...267,463,705
JBrowse link
G Itgb4 integrin subunit beta 4 ISO ClinVar Annotator: match by OMIM:226650 OMIM
ClinVar
PMID:10792571 NCBI chr10:104,524,000...104,560,180
Ensembl chr10:104,523,996...104,561,078
JBrowse link
G Lama3 laminin subunit alpha 3 ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA JUNCTIONALIS, NON-HERLITZ TYPE
ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE
ClinVar Annotator: match by OMIM:226650
OMIM
ClinVar
PMID:11810295 PMID:16473856 PMID:25525159 PMID:25741868 PMID:28492532 NCBI chr18:3,704,866...3,941,215
Ensembl chr18:3,705,916...3,940,838
JBrowse link
G Lamb3 laminin subunit beta 3 ISO ClinVar Annotator: match by term: Junctional epidermolysis bullosa, non-Herlitz type
ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA JUNCTIONALIS, NON-HERLITZ TYPE
ClinVar Annotator: match by OMIM:226650
OMIM
ClinVar
PMID:7698759 PMID:7706760 PMID:8824879 PMID:8983017 PMID:9038345 PMID:9205497 PMID:9242513 PMID:9501007 PMID:9690563 PMID:9767254 PMID:9856855 PMID:10577906 PMID:11023379 PMID:11298117 PMID:11451332 PMID:11689492 PMID:12813757 PMID:15311214 PMID:15538630 PMID:15663509 PMID:16439963 PMID:16473856 PMID:17115047 PMID:17476356 PMID:21801158 PMID:22931927 PMID:23278291 PMID:24617447 PMID:25708563 PMID:25741868 PMID:27062385 PMID:27375110 PMID:28492532 PMID:28830826 PMID:30544381 NCBI chr13:112,031,614...112,073,187
Ensembl chr13:112,031,594...112,073,186
JBrowse link
G Lamc2 laminin subunit gamma 2 ISO ClinVar Annotator: match by term: Junctional epidermolysis bullosa, non-Herlitz type
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:226650
OMIM
ClinVar
CTD
PMID:11564184 PMID:11810295 PMID:11907499 PMID:15538630 PMID:16473856 PMID:24550734 PMID:28492532 PMID:28830826 NCBI chr13:70,566,643...70,632,126
Ensembl chr13:70,566,643...70,626,252
JBrowse link
junctional epidermolysis bullosa with pyloric atresia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Galk1 galactokinase 1 ISO ClinVar Annotator: match by term: Epidermolysis bullosa with pyloric atresia
ClinVar Annotator: match by term: Epidermolysis bullosa junctionalis with pyloric atresia
ClinVar PMID:9792864 PMID:9892956 PMID:10484780 PMID:11328943 PMID:11886501 PMID:12485428 PMID:18955862 PMID:20301304 PMID:23496044 PMID:25741868 PMID:28492532 NCBI chr10:104,560,322...104,564,499
Ensembl chr10:104,560,303...104,564,480
JBrowse link
G Itga6 integrin subunit alpha 6 ISO ClinVar Annotator: match by term: Epidermolysis bullosa with pyloric atresia
ClinVar Annotator: match by term: Epidermolysis bullosa junctionalis with pyloric atresia
ClinVar Annotator: match by OMIM:226730
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:9185503 PMID:25741868 PMID:28492532 NCBI chr 3:58,442,904...58,515,124
Ensembl chr 3:58,443,101...58,515,124
JBrowse link
G Itgb4 integrin subunit beta 4 ISO ClinVar Annotator: match by term: Epidermolysis bullosa junctionalis with pyloric atresia
ClinVar Annotator: match by term: Epidermolysis bullosa with pyloric atresia
ClinVar Annotator: match by OMIM:226730
ClinVar Annotator: match by term: Epidermolysis bullosa, junctional, with pyloric atresia and aplasia cutis congenita
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by null
OMIM
ClinVar
CTD
PMID:6177243 PMID:7545057 PMID:9546354 PMID:9674902 PMID:9792864 PMID:9892956 PMID:10484780 PMID:11328943 PMID:11886501 PMID:12485428 PMID:18348258 PMID:18955862 PMID:20301304 PMID:20301336 PMID:23496044 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr10:104,524,000...104,560,180
Ensembl chr10:104,523,996...104,561,078
JBrowse link
G Plec plectin ISO ClinVar Annotator: match by OMIM:226730
ClinVar Annotator: match by term: Epidermolysis Bullosa with Pyloric Atresia
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:15810881 PMID:28492532 NCBI chr 7:117,230,319...117,291,859
Ensembl chr 7:117,230,319...117,289,961
JBrowse link
Kindler syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fermt1 FERM domain containing kindlin 1 ISO ClinVar Annotator: match by term: Kindler's syndrome ClinVar
OMIM
PMID:12668616 PMID:12789646 PMID:14507403 PMID:14962093 PMID:15313809 PMID:16675959 PMID:18528435 PMID:19292718 PMID:19762715 PMID:21336475 PMID:22220914 PMID:24635075 PMID:24635080 PMID:25156791 PMID:25437880 PMID:25599393 PMID:25741868 PMID:28443301 PMID:28492532 NCBI chr 3:125,566,744...125,607,864
Ensembl chr 3:125,566,643...125,607,735
JBrowse link
Lipodermatosclerosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col1a1 collagen type I alpha 1 chain ISO mRNA:increased expression:dermis RGD PMID:15727634 RGD:5688298 NCBI chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789
JBrowse link
MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Msmo1 methylsterol monooxygenase 1 ISO ClinVar Annotator: match by term: MICROCEPHALY, CONGENITAL CATARACTS, AND PSORIASIFORM DERMATITIS
ClinVar Annotator: match by term: Microcephaly, congenital cataract, and psoriasiform dermatitis
ClinVar
OMIM
PMID:21285510 PMID:24144731 NCBI chr16:26,859,441...26,875,880
Ensembl chr16:26,859,397...26,875,973
JBrowse link
Neonatal Inflammatory Skin and Bowel Disease 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adam17 ADAM metallopeptidase domain 17 ISO ClinVar Annotator: match by term: Inflammatory skin and bowel disease, neonatal 1 ClinVar
OMIM
PMID:22010916 PMID:28492532 NCBI chr 6:43,400,525...43,448,280
Ensembl chr 6:43,400,528...43,448,280
JBrowse link
G Iah1 isoamyl acetate hydrolyzing esterase 1 ISO ClinVar Annotator: match by term: Inflammatory skin and bowel disease, neonatal 1 ClinVar PMID:28492532 NCBI chr 6:43,393,113...43,400,330
Ensembl chr 6:43,393,113...43,400,328
JBrowse link
Neonatal Inflammatory Skin and Bowel Disease 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Egfr epidermal growth factor receptor ISO ClinVar Annotator: match by term: Inflammatory skin and bowel disease, neonatal, 2 ClinVar
OMIM
PMID:24691054 NCBI chr14:99,919,485...100,104,136
Ensembl chr14:99,919,485...100,098,796
JBrowse link
Nephropathy with Pretibial Epidermolysis Bullosa and Deafness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd151 CD151 molecule (Raph blood group) ISO ClinVar Annotator: match by OMIM:609057 OMIM
ClinVar
PMID:15265795 NCBI chr 1:214,446,659...214,450,668
Ensembl chr 1:214,009,784...214,013,765
Ensembl chr 1:214,009,784...214,013,765
JBrowse link
occupational dermatitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh2 aldehyde dehydrogenase 2 family member ISO CTD Direct Evidence: marker/mechanism CTD PMID:16758956 NCBI chr12:40,466,418...40,498,813
Ensembl chr12:40,466,495...40,498,752
JBrowse link
G Bdkrb2 bradykinin receptor B2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30685357 NCBI chr 6:129,399,468...129,429,676
Ensembl chr 6:129,399,468...129,429,676
JBrowse link
G Foxp3 forkhead box P3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29477354 NCBI chr  X:15,753,175...15,768,648
Ensembl chr  X:15,753,175...15,768,522
JBrowse link
G Il10 interleukin 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29477354 NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
JBrowse link
G Il13 interleukin 13 ISO RGD PMID:19254288 RGD:8549579 NCBI chr10:38,982,909...38,985,466
Ensembl chr10:38,982,909...38,985,466
JBrowse link
G Kng2 kininogen 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30685357 NCBI chr11:81,509,185...81,516,759 JBrowse link
G Nat1 N-acetyltransferase 1 susceptibility ISO DNA:polymorphisms::
CTD Direct Evidence: marker/mechanism
CTD PMID:19834256, PMID:19834256 RGD:8552685 NCBI chr16:23,970,742...23,991,573
Ensembl chr16:23,970,743...23,991,573
JBrowse link
G Nat2 N-acetyltransferase 2 susceptibility ISO DNA:polymorphisms::
CTD Direct Evidence: marker/mechanism
CTD PMID:19834256, PMID:19834256 RGD:8552685 NCBI chr16:23,960,709...23,991,570
Ensembl chr16:23,961,067...23,991,570
JBrowse link
G RT1-DMa RT1 class II, locus DMa ISO CTD Direct Evidence: marker/mechanism CTD PMID:16737583 NCBI chr20:3,935,512...3,938,915
Ensembl chr20:5,240,975...5,244,386
JBrowse link
PAPA syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:27106250 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
JBrowse link
G Pstpip1 proline-serine-threonine phosphatase-interacting protein 1 ISO ClinVar Annotator: match by term: Familial recurrent arthritis
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Pyogenic arthritis, pyoderma gangrenosum and acne
ClinVar Annotator: match by OMIM:604416
OMIM
ClinVar
CTD
PMID:11971877 PMID:14595024 PMID:15580218 PMID:16527883 PMID:19673875 PMID:19934105 PMID:20506269 PMID:22161697 PMID:22513199 PMID:25741868 PMID:25845478 PMID:26025129 PMID:27106250 PMID:27577878 PMID:28492532 PMID:30290665 PMID:31443670 NCBI chr 8:60,760,040...60,799,364
Ensembl chr 8:60,760,078...60,799,361
JBrowse link
peeling skin syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdsn corneodesmosin ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr20:3,704,626...3,707,266 JBrowse link
G Chst8 carbohydrate sulfotransferase 8 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:90,542,095...90,685,257
Ensembl chr 1:90,542,096...90,685,257
JBrowse link
G Serpinb8 serpin family B member 8 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr13:27,876,662...27,914,038
Ensembl chr13:27,889,345...27,914,006
JBrowse link
Peeling Skin Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdsn corneodesmosin ISO ClinVar Annotator: match by term: Peeling skin syndrome 1 OMIM
ClinVar
PMID:2434123 PMID:20691404 PMID:21191406 PMID:22146835 PMID:23957618 NCBI chr20:3,704,626...3,707,266 JBrowse link
G Tgm5 transglutaminase 5 ISO ClinVar Annotator: match by term: Peeling skin syndrome 1 ClinVar PMID:22622422 NCBI chr 3:112,995,469...113,033,110
Ensembl chr 3:112,995,568...113,023,532
JBrowse link
Peeling Skin Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tgm5 transglutaminase 5 ISO ClinVar Annotator: match by OMIM:609796
ClinVar Annotator: match by term: Peeling skin syndrome 2
ClinVar Annotator: match by term: Peeling skin syndrome, acral type
ClinVar
OMIM
PMID:16380904 PMID:19440220 PMID:20164844 PMID:21469335 PMID:22036214 PMID:22622422 PMID:24019772 PMID:24628291 PMID:25644735 PMID:26091878 PMID:26707537 PMID:26925801 PMID:28492532 PMID:29242947 NCBI chr 3:112,995,469...113,033,110
Ensembl chr 3:112,995,568...113,023,532
JBrowse link
Peeling Skin Syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chst8 carbohydrate sulfotransferase 8 ISO ClinVar Annotator: match by term: Peeling skin syndrome 3 OMIM
ClinVar
PMID:22289416 PMID:28492532 NCBI chr 1:90,542,095...90,685,257
Ensembl chr 1:90,542,096...90,685,257
JBrowse link
Peeling Skin Syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Csta cystatin A ISO ClinVar Annotator: match by OMIM:607936 OMIM
ClinVar
PMID:12890214 PMID:21944047 PMID:22066523 PMID:23534700 PMID:25400170 NCBI chr11:67,555,792...67,566,980
Ensembl chr11:67,555,658...67,566,972
JBrowse link
Peeling Skin Syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Serpinb8 serpin family B member 8 ISO ClinVar Annotator: match by term: PEELING SKIN SYNDROME 5 ClinVar
OMIM
PMID:27476651 NCBI chr13:27,876,662...27,914,038
Ensembl chr13:27,889,345...27,914,006
JBrowse link
Peeling Skin Syndrome 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Flg2 filaggrin family member 2 ISO ClinVar Annotator: match by term: PEELING SKIN SYNDROME 6
ClinVar Annotator: match by term: Peeling skin syndrome 6
ClinVar
OMIM
PMID:25741868 PMID:28884927 PMID:29505760 PMID:29758285 NCBI chr 2:193,480,880...193,485,463
Ensembl chr 2:193,483,793...193,485,313
JBrowse link
PEELING SKIN WITH LEUKONYCHIA, ACRAL PUNCTATE KERATOSES, CHEILITIS, AND KNUCKLE PADS term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cast calpastatin ISO ClinVar Annotator: match by OMIM:616295 ClinVar
OMIM
PMID:3527073 PMID:25683118 NCBI chr 2:1,452,111...1,561,669
Ensembl chr 2:1,452,116...1,561,464
JBrowse link
G Erap1 endoplasmic reticulum aminopeptidase 1 ISO ClinVar Annotator: match by term: PEELING SKIN WITH LEUKONYCHIA, ACRAL PUNCTATE KERATOSES, CHEILITIS, AND KNUCKLE PADS ClinVar PMID:3527073 PMID:25683118 NCBI chr 2:1,410,877...1,449,734
Ensembl chr 2:1,410,934...1,449,733
JBrowse link
pemphigus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C3 complement C3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:74171 NCBI chr 9:9,721,137...9,747,084
Ensembl chr 9:9,721,105...9,747,167
JBrowse link
G Cast calpastatin ISO RGD PMID:16314468 RGD:5509814 NCBI chr 2:1,452,111...1,561,669
Ensembl chr 2:1,452,116...1,561,464
JBrowse link
G Cat catalase ISO protein:increased activities:skin: RGD PMID:22738420 RGD:9479165 NCBI chr 3:93,379,872...93,412,058
Ensembl chr 3:93,379,874...93,412,058
JBrowse link
G Cd36 CD36 molecule ISO RGD PMID:21255096 RGD:5490304 NCBI chr 4:14,150,309...14,191,498
Ensembl chr 4:14,001,761...14,249,749
JBrowse link
G Cd40 CD40 molecule ISO RGD PMID:21255096 RGD:5490304 NCBI chr 3:161,519,789...161,534,943
Ensembl chr 3:161,519,743...161,534,704
JBrowse link
G Cd40lg CD40 ligand ISO mRNA, protein:increased expression:skin, serum RGD PMID:17531537 RGD:8547773 NCBI chr  X:159,703,703...159,714,886
Ensembl chr  X:159,703,578...159,716,562
JBrowse link
G Il2 interleukin 2 ISO RGD PMID:6432916 RGD:8693324 NCBI chr 2:123,847,150...123,851,854
Ensembl chr 2:123,847,150...123,851,854
JBrowse link
G Mbl2 mannose binding lectin 2 ISO protein:increased expression:skin: RGD PMID:21327568 RGD:8693728 NCBI chr 1:248,435,069...248,442,669
Ensembl chr 1:248,723,397...248,729,962
JBrowse link
G RT1-Ba RT1 class II, locus Ba ISO DNA:polymorphisms:cds:HLA-DQA1*0104, HLA-DQA1*03011 (human) RGD PMID:18780165 RGD:5147619 NCBI chr20:4,066,133...4,070,726
Ensembl chr20:4,066,132...4,070,721
JBrowse link
G RT1-Bb RT1 class II, locus Bb ISO DNA:polymorphisms:cds:HLA-DQB1*0302, HLA-DQB1*0502 (human) RGD PMID:18780165 RGD:5147619 NCBI chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
JBrowse link
G RT1-Db1 RT1 class II, locus Db1 susceptibility ISO DNA:polymorphisms (human)
DNA:polymorphism:cds:HLA-DRB1*0403, *0406, *1401, *1405, *1406 (human)
RGD PMID:9347787, PMID:18780165 RGD:40818304, RGD:5147619 NCBI chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
JBrowse link
pemphigus vulgaris term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dsg3 desmoglein 3 ISS OMIM:169610 MouseDO NCBI chr18:15,652,948...15,688,605
Ensembl chr18:15,650,526...15,688,284
JBrowse link
G RT1-Bb RT1 class II, locus Bb ISO RGD PMID:28197992 RGD:14747041 NCBI chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
JBrowse link
photosensitive trichothiodystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit ISS
ISO
OMIM:601675
ClinVar Annotator: match by term: TRICHOTHIODYSTROPHY WITH CONGENITAL ICHTHYOSIS
MouseDO
ClinVar
PMID:7920640 PMID:8571952 PMID:9238033 PMID:20944642 PMID:23232694 PMID:25620205 PMID:25741868 NCBI chr 1:80,293,574...80,307,334
Ensembl chr 1:80,293,566...80,307,344
JBrowse link
photosensitive trichothiodystrophy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit ISO ClinVar Annotator: match by term: Trichothiodystrophy 1, photosensitive
ClinVar Annotator: match by OMIM:601675
OMIM
ClinVar
PMID:7849702 PMID:7920640 PMID:8571952 PMID:9195225 PMID:9238033 PMID:9758621 PMID:11242112 PMID:11709541 PMID:20944642 PMID:23232694 PMID:24728327 PMID:25620205 PMID:25741868 PMID:28492532 NCBI chr 1:80,293,574...80,307,334
Ensembl chr 1:80,293,566...80,307,344
JBrowse link
G Gtf2h5 general transcription factor IIH subunit 5 ISO RGD PMID:22824526 RGD:7246919 NCBI chr 1:46,978,345...46,985,032
Ensembl chr 1:46,978,458...46,985,032
JBrowse link
G Mplkip M-phase specific PLK1 interacting protein ISO ClinVar Annotator: match by term: Trichothiodystrophy 1, photosensitive ClinVar NCBI chr17:49,955,060...49,990,982
Ensembl chr17:49,955,060...49,991,059
JBrowse link
photosensitive trichothiodystrophy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ercc3 ERCC excision repair 3, TFIIH core complex helicase subunit ISO ClinVar Annotator: match by term: Trichothiodystrophy 2, photosensitive
DNA:missense mutation:cds:p.T119P (human)
ClinVar
OMIM
PMID:9012405, PMID:9012405 RGD:13207496 NCBI chr18:25,037,668...25,068,380
Ensembl chr18:25,037,625...25,068,389
JBrowse link
photosensitive trichothiodystrophy 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit ISO ClinVar Annotator: match by term: Trichothiodystrophy, complementation group A ClinVar PMID:7920640 PMID:8571952 PMID:9238033 PMID:20944642 PMID:23232694 PMID:25620205 PMID:25741868 NCBI chr 1:80,293,574...80,307,334
Ensembl chr 1:80,293,566...80,307,344
JBrowse link
G Gtf2h5 general transcription factor IIH subunit 5 ISO ClinVar Annotator: match by term: Trichothiodystrophy 3, photosensitive
ClinVar Annotator: match by term: Trichothiodystrophy, complementation group a
OMIM
ClinVar
PMID:15220921 PMID:24986372 PMID:25741868 PMID:30359777 NCBI chr 1:46,978,345...46,985,032
Ensembl chr 1:46,978,458...46,985,032
JBrowse link
photosensitivity disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Brd2 bromodomain containing 2 susceptibility ISO DNA:SNPs,haplotype: : RGD PMID:16516380 RGD:9586343 NCBI chr20:3,910,555...3,921,074
Ensembl chr20:3,910,555...3,917,426
Ensembl chr20:3,910,555...3,917,426
JBrowse link
G Eln elastin ISO protein:decreased expression:skin: RGD PMID:18753059 RGD:9585765 NCBI chr12:24,978,478...25,021,864
Ensembl chr12:24,978,483...25,021,863
JBrowse link
Pretibial Epidermolysis Bullosa term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col7a1 collagen type VII alpha 1 chain ISO ClinVar Annotator: match by term: DYSTROPHIC EPIDERMOLYSIS BULLOSA, PRETIBIAL
ClinVar Annotator: match by term: Pretibial epidermolysis bullosa
ClinVar Annotator: match by term: Epidermolysis bullosa, pretibial, autosomal recessive
ClinVar Annotator: match by OMIM:131850
OMIM
ClinVar
PMID:7861014 PMID:8541842 PMID:8755915 PMID:9215684 PMID:9892921 PMID:10408773 PMID:10583163 PMID:11781296 PMID:12485454 PMID:12787275 PMID:15888141 PMID:16971478 PMID:19681861 PMID:20598510 PMID:22266148 PMID:24033266 PMID:24794830 PMID:25741868 PMID:28492532 PMID:28830826 NCBI chr 8:117,694,441...117,726,844
Ensembl chr 8:117,694,605...117,726,844
JBrowse link
pustulosis of palm and sole term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lta lymphotoxin alpha ISO DNA:SNP:intron:IVS1 (human) RGD PMID:12691703 RGD:8548804 NCBI chr20:4,851,889...4,854,677
Ensembl chr20:4,852,496...4,854,677
JBrowse link
G Tnf tumor necrosis factor no_association ISO DNA:SNPs:promoter:multiple
DNA:SNPs, haplotype:5' utr:multiple
RGD PMID:11019918, PMID:12691703 RGD:8548803, RGD:8548804 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
pyoderma gangrenosum term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mefv MEFV innate immuity regulator, pyrin ISO CTD Direct Evidence: marker/mechanism CTD PMID:27106250 NCBI chr10:12,045,813...12,056,229
Ensembl chr10:12,046,541...12,056,311
JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO protein:increased expression:skin RGD PMID:21658319 RGD:8657060 NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:skin RGD PMID:21658319 RGD:8657060 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
G Nlrp3 NLR family, pyrin domain containing 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27106250 NCBI chr10:45,884,324...45,918,290
Ensembl chr10:45,893,018...45,918,254
JBrowse link
G Nod2 nucleotide-binding oligomerization domain containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27106250 NCBI chr19:19,342,061...19,389,366
Ensembl chr19:19,332,594...19,377,492