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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 chr18:55,642,459...55,644,501
Ensembl chr18:55,502,903...55,644,512
JBrowse link
G Asip agouti signaling protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:32937126 NCBI chr 3:143,473,584...143,561,170
Ensembl chr 3:143,555,696...143,561,171
JBrowse link
G Clock clock circadian regulator ISO RGD PMID:21149897 RGD:10401871 NCBI chr14:31,908,542...31,992,673
Ensembl chr14:31,908,566...31,990,400
JBrowse link
G Csk C-terminal Src kinase ISO RGD PMID:14975240 RGD:5134363 NCBI chr 8:58,029,748...58,048,742
Ensembl chr 8:58,029,749...58,048,292
JBrowse link
G Cxcl12 C-X-C motif chemokine ligand 12 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27206134 NCBI chr 4:150,388,326...150,401,173
Ensembl chr 4:150,388,325...150,401,168
JBrowse link
G Dsg1 desmoglein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23974871 NCBI chr18:11,674,687...11,705,383
Ensembl chr18:11,674,402...11,703,443
JBrowse link
G Egf epidermal growth factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:27206134 NCBI chr 2:218,219,408...218,302,370
Ensembl chr 2:218,219,415...218,302,064
JBrowse link
G Egfr epidermal growth factor receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:27206134 NCBI chr14:91,176,931...91,349,722
Ensembl chr14:91,177,067...91,344,382
JBrowse link
G Fgf2 fibroblast growth factor 2 ISO RGD PMID:16507899 RGD:8554852 NCBI chr 2:120,236,328...120,290,673
Ensembl chr 2:120,236,328...120,291,221
JBrowse link
G Flg filaggrin ISO CTD Direct Evidence: marker/mechanism CTD PMID:31330126 NCBI chr 2:178,888,688...178,912,731 JBrowse link
G Foxp3 forkhead box P3 ISO RGD PMID:22466646 RGD:38549359 NCBI chr  X:14,908,494...14,924,994
Ensembl chr  X:14,908,494...14,923,838
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 7:9,969,801...9,988,839
Ensembl chr 7:9,970,368...9,988,841
JBrowse link
G Icam1 intercellular adhesion molecule 1 treatment ISO RGD PMID:9366707 RGD:8547708 NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
JBrowse link
G Ikbkb inhibitor of nuclear factor kappa B kinase subunit beta ISO RGD PMID:12075355 PMID:20200541 RGD:7495756, RGD:7495759 NCBI chr16:69,319,487...69,373,251
Ensembl chr16:69,319,554...69,373,250
JBrowse link
G Il13 interleukin 13 ISO DNA:SNP:promoter:rs20541 (human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:31330126 PMID:23171465 RGD:8549505 NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737
JBrowse link
G Il18 interleukin 18 ISO RGD PMID:12925208 RGD:8655896 NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
JBrowse link
G Il4 interleukin 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31330126 NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
JBrowse link
G Itgb2 integrin subunit beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9653089 NCBI chr20:11,061,394...11,097,656
Ensembl chr20:11,061,430...11,097,600
JBrowse link
G Nod2 nucleotide-binding oligomerization domain containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19467619 NCBI chr19:18,379,720...18,422,817
Ensembl chr19:18,382,439...18,417,177
JBrowse link
G Parp1 poly (ADP-ribose) polymerase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20561897 NCBI chr13:92,307,593...92,339,406
Ensembl chr13:92,307,586...92,339,404
JBrowse link
G Pla2g4a phospholipase A2 group IVA ISO CTD Direct Evidence: marker/mechanism CTD PMID:18287786 NCBI chr13:61,877,818...62,022,261
Ensembl chr13:61,877,813...62,022,266
JBrowse link
G Ripk3 receptor-interacting serine-threonine kinase 3 ISO RGD PMID:22000287 RGD:7777169 NCBI chr15:29,283,153...29,292,107
Ensembl chr15:29,283,145...29,292,121
JBrowse link
G RT1-Ba RT1 class II, locus Ba ISO CTD Direct Evidence: marker/mechanism CTD PMID:16836882 NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
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 NCBI chr20:3,314,984...3,318,037 JBrowse link
G Sharpin SHANK-associated RH domain interactor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19650867 NCBI chr 7:108,070,681...108,075,012
Ensembl chr 7:108,070,687...108,074,955
JBrowse link
G Syk spleen associated tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:33782605 NCBI chr17:12,604,615...12,678,437
Ensembl chr17:12,604,619...12,661,410
JBrowse link
G Tnf tumor necrosis factor ISO RGD PMID:3171214 RGD:7394823 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
JBrowse link
G Trpv3 transient receptor potential cation channel, subfamily V, member 3 IAGP DNA:missense mutation:cds:G1717T (rat) RGD PMID:16858425 RGD:150520053 NCBI chr10:57,883,546...57,915,865
Ensembl chr10:57,883,546...57,913,296
JBrowse link
G Vcam1 vascular cell adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27206134 NCBI chr 2:204,038,120...204,057,852
Ensembl chr 2:204,038,114...204,057,958
JBrowse link
G Zfp36 zinc finger protein 36 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15944294 NCBI chr 1:83,669,084...83,671,564
Ensembl chr 1:83,669,084...83,671,564
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 9:84,389,031...84,391,629
Ensembl chr 9:84,388,904...84,391,629
JBrowse link
G Itpr3 inositol 1,4,5-trisphosphate receptor, type 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27258892 NCBI chr20:5,136,968...5,202,339
Ensembl chr20:5,136,441...5,202,337
JBrowse link
G Mkln1 muskelin 1 ISO Acrodermatitis, lethal OMIA PMID:2402865 PMID:3710872 PMID:8981276 PMID:9256960 PMID:10563006 More... NCBI chr 4:59,815,912...60,124,047
Ensembl chr 4:60,002,464...60,123,993
JBrowse link
G Psmb9 proteasome 20S subunit beta 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27258892 NCBI chr20:4,667,044...4,672,512
Ensembl chr20:4,666,046...4,672,512
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 7:108,333,380...108,337,553
Ensembl chr 7:108,333,381...108,337,553
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
RGD
PMID:11035780 PMID:11254458 PMID:12032886 PMID:12068297 PMID:12787121 More... RGD:1599005 NCBI chr 7:108,333,380...108,337,553
Ensembl chr 7:108,333,381...108,337,553
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 chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
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 chr10:95,142,805...95,212,087
Ensembl chr10:95,142,966...95,211,530
JBrowse link
G Asrgl1 asparaginase and isoaspartyl peptidase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16033404 NCBI chr 1:206,006,103...206,027,115
Ensembl chr 1:206,006,109...206,027,108
JBrowse link
G Bcl2 BCL2, apoptosis regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:16033404 NCBI chr13:22,689,783...22,853,920 JBrowse link
G Bmp6 bone morphogenetic protein 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17374397 NCBI chr17:26,318,121...26,469,034
Ensembl chr17:26,318,569...26,470,365
JBrowse link
G Calcrl calcitonin receptor like receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:17374397 NCBI chr 3:69,428,348...69,525,910
Ensembl chr 3:69,430,120...69,525,910
JBrowse link
G Casp8 caspase 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16033404 NCBI chr 9:60,263,863...60,312,542
Ensembl chr 9:60,264,075...60,312,542
JBrowse link
G Ccl17 C-C motif chemokine ligand 17 ISO RGD PMID:15491423 RGD:1626251 NCBI chr19:10,202,317...10,203,768
Ensembl chr19:10,202,128...10,203,819
JBrowse link
G Ccl19 C-C motif chemokine ligand 19 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17597826 NCBI chr 5:56,963,364...56,965,308
Ensembl chr 5:56,963,364...56,965,308
JBrowse link
G Ccl5 C-C motif chemokine ligand 5 ISO protein:increased expression:ear (mouse) RGD PMID:15491423 RGD:1626251 NCBI chr10:68,322,826...68,327,365
Ensembl chr10:68,322,829...68,327,377
JBrowse link
G Ccr1 C-C motif chemokine receptor 1 ISO RGD PMID:18844696 RGD:5688176 NCBI chr 8:123,556,286...123,561,841 JBrowse link
G Ccr2 C-C motif chemokine receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:17374397 PMID:10899907 RGD:8661227 NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100
JBrowse link
G Ccr3 C-C motif chemokine receptor 3 ISO RGD PMID:22075493 RGD:6892916 NCBI chr 8:123,586,100...123,634,178
Ensembl chr 8:123,616,236...123,634,990
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 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
JBrowse link
G Cd36 CD36 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:17374397 NCBI chr 4:17,317,343...17,410,084 JBrowse link
G Cd3d CD3d molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:17597826 NCBI chr 8:45,287,803...45,293,342
Ensembl chr 8:45,288,749...45,301,809
JBrowse link
G Cidec cell death-inducing DFFA-like effector c ISO CTD Direct Evidence: marker/mechanism CTD PMID:17374397 NCBI chr 4:146,569,288...146,582,173
Ensembl chr 4:146,569,289...146,582,173
JBrowse link
G Cish cytokine inducible SH2-containing protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:16033404 NCBI chr 8:107,972,306...107,977,254
Ensembl chr 8:107,972,306...107,977,250
JBrowse link
G Cntn3 contactin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17597826 NCBI chr 4:134,841,268...135,214,460
Ensembl chr 4:134,842,266...135,125,613
JBrowse link
G Crem cAMP responsive element modulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:17374397 NCBI chr17:54,238,889...54,305,989
Ensembl chr17:54,239,030...54,305,989
JBrowse link
G Ctsc cathepsin C ISO CTD Direct Evidence: marker/mechanism CTD PMID:17374397 NCBI chr 1:142,028,386...142,059,841
Ensembl chr 1:142,028,392...142,060,387
JBrowse link
G Cxcl2 C-X-C motif chemokine ligand 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23178550 NCBI chr14:17,181,030...17,183,075
Ensembl chr14:17,181,062...17,183,075
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 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125
JBrowse link
G Emb embigin ISO CTD Direct Evidence: marker/mechanism CTD PMID:17374397 NCBI chr 2:49,070,509...49,125,042
Ensembl chr 2:49,069,087...49,125,050
JBrowse link
G Ets2 ETS proto-oncogene 2, transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:16033404 NCBI chr11:35,021,536...35,038,322
Ensembl chr11:35,021,596...35,038,319
JBrowse link
G F13a1 coagulation factor XIII A1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:17374397 NCBI chr17:27,815,723...27,992,494
Ensembl chr17:27,815,702...27,992,700
JBrowse link
G Fgl2 fibrinogen-like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17374397 NCBI chr 4:13,710,566...13,716,207
Ensembl chr 4:13,710,575...13,716,207
JBrowse link
G Flt1 Fms related receptor tyrosine kinase 1 ISO mRNA:protein:skin: RGD PMID:7876550 RGD:7421586 NCBI chr12:7,296,899...7,468,626
Ensembl chr12:7,297,292...7,468,626
JBrowse link
G Fyb1 FYN binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16033404 NCBI chr 2:55,621,585...55,781,206
Ensembl chr 2:55,632,698...55,779,629
JBrowse link
G Grk2 G protein-coupled receptor kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16033404 NCBI chr 1:201,581,480...201,601,580
Ensembl chr 1:201,581,480...201,601,582
JBrowse link
G Hsd11b1 hydroxysteroid 11-beta dehydrogenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16033404 NCBI chr13:104,728,539...104,798,884
Ensembl chr13:104,728,539...104,788,687
JBrowse link
G Ifi30 IFI30, lysosomal thiol reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17597826 NCBI chr16:18,675,651...18,679,857
Ensembl chr16:18,675,613...18,681,175
JBrowse link
G Ifng interferon gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:11312644 PMID:12484431 PMID:15347381 NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
JBrowse link
G Igsf6 immunoglobulin superfamily, member 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16033404 NCBI chr 1:175,610,167...175,620,662
Ensembl chr 1:175,610,167...175,620,722
JBrowse link
G Il10 interleukin 10 treatment ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:15347381 PMID:23760007 RGD:7364806 NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
JBrowse link
G Il18 interleukin 18 treatment ISO mRNA:increased expression:skin
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:27585668 PMID:9781803 PMID:12874202 RGD:8655902, RGD:8655940 NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
JBrowse link
G Il18bp interleukin 18 binding protein treatment ISO RGD PMID:12874202 RGD:8655940 NCBI chr 1:156,372,923...156,374,963
Ensembl chr 1:156,372,883...156,374,963
JBrowse link
G Il1a interleukin 1 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:23178550 NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
JBrowse link
G Il2 interleukin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11312644 PMID:22245253 NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
JBrowse link
G Il2ra interleukin 2 receptor subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:16033404 NCBI chr17:66,849,974...66,898,665
Ensembl chr17:66,849,974...66,898,697
JBrowse link
G Il4 interleukin 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12484431 PMID:21804303 NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
JBrowse link
G Il5 interleukin 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15347381 NCBI chr10:37,874,342...37,877,213
Ensembl chr10:37,874,342...37,877,213
JBrowse link
G Ipcef1 interaction protein for cytohesin exchange factors 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17374397 NCBI chr 1:43,237,903...43,451,735
Ensembl chr 1:43,269,202...43,427,969
JBrowse link
G Itgam integrin subunit alpha M ISO CTD Direct Evidence: marker/mechanism CTD PMID:16033404 NCBI chr 1:182,659,047...182,709,495
Ensembl chr 1:182,659,000...182,709,503
JBrowse link
G Jam2 junctional adhesion molecule 2 ISO RGD PMID:16297198 RGD:7488919 NCBI chr11:23,830,820...23,880,071
Ensembl chr11:23,831,106...23,880,063
JBrowse link
G Jam3 junctional adhesion molecule 3 ISO RGD PMID:16297198 RGD:7488919 NCBI chr 8:25,508,461...25,569,306
Ensembl chr 8:25,507,057...25,569,355
JBrowse link
G Kdr kinase insert domain receptor ISO mRNA:protein:skin: RGD PMID:7876550 RGD:7421586 NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018
JBrowse link
G Kmo kynurenine 3-monooxygenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16033404 NCBI chr13:87,557,080...87,589,334
Ensembl chr13:87,557,286...87,588,881
JBrowse link
G Mc1r melanocortin 1 receptor ISO RGD PMID:20126537 RGD:5687319 NCBI chr19:51,452,448...51,455,375 JBrowse link
G Meox1 mesenchyme homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16033404 NCBI chr10:86,818,450...86,837,563
Ensembl chr10:86,818,478...86,837,660
JBrowse link
G Mir155 microRNA 155 treatment IEP RGD PMID:29404871 RGD:21079472 NCBI chr11:23,774,654...23,774,718
Ensembl chr11:23,774,654...23,774,718
JBrowse link
G Mir21 microRNA 21 treatment IEP RGD PMID:29282578 RGD:41404666 NCBI chr10:71,405,257...71,405,348
Ensembl chr10:71,405,257...71,405,348
JBrowse link
G Mki67 marker of proliferation Ki-67 ISO RGD PMID:21294775 RGD:6483538 NCBI chr 1:190,496,319...190,522,983
Ensembl chr 1:190,496,319...190,522,762
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 8:4,640,397...4,653,963
Ensembl chr 8:4,640,416...4,653,961
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 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
JBrowse link
G Mrc1 mannose receptor, C type 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16033404 NCBI chr17:77,249,187...77,330,857
Ensembl chr17:77,249,187...77,330,857
JBrowse link
G Mxd1 max dimerization protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17374397 NCBI chr 4:119,097,353...119,118,080
Ensembl chr 4:119,097,353...119,117,751
JBrowse link
G Nampt nicotinamide phosphoribosyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17374397 NCBI chr 6:49,425,316...49,462,109
Ensembl chr 6:49,424,332...49,462,100
JBrowse link
G Nat1 N-acetyltransferase 1 susceptibility ISO DNA:polymorphism: : RGD PMID:19663877 RGD:8552666 NCBI chr16:22,218,217...22,238,516 JBrowse link
G Nat2 N-acetyltransferase 2 susceptibility ISO DNA:polymorphisms: : RGD PMID:16533241 RGD:8552663 NCBI chr16:22,207,362...22,238,513
Ensembl chr16:22,208,194...22,238,520
JBrowse link
G Nfe2l2 NFE2 like bZIP transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23564646 NCBI chr 3:60,594,239...60,621,785
Ensembl chr 3:60,594,242...60,621,737
JBrowse link
G Ninj1 ninjurin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17374397 NCBI chr17:15,452,804...15,461,684
Ensembl chr17:15,452,813...15,461,704
JBrowse link
G Numa1 nuclear mitotic apparatus protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16033404 NCBI chr 1:156,297,907...156,372,855
Ensembl chr 1:156,326,259...156,372,855
JBrowse link
G Ogg1 8-oxoguanine DNA glycosylase ISO RGD PMID:15677345 RGD:8657146 NCBI chr 4:146,474,701...146,481,959
Ensembl chr 4:146,474,750...146,484,766
JBrowse link
G Phlda1 pleckstrin homology-like domain, family A, member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17374397 NCBI chr 7:46,967,433...46,969,637
Ensembl chr 7:46,967,409...46,969,861
JBrowse link
G Pim1 Pim-1 proto-oncogene, serine/threonine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16033404 NCBI chr20:7,554,921...7,559,174
Ensembl chr20:7,554,921...7,559,174
JBrowse link
G Plat plasminogen activator, tissue type ISO CTD Direct Evidence: marker/mechanism CTD PMID:17374397 NCBI chr16:69,240,582...69,265,177
Ensembl chr16:69,240,585...69,268,223
JBrowse link
G Prdx4 peroxiredoxin 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16033404 NCBI chr  X:40,026,762...40,044,066
Ensembl chr  X:40,026,651...40,044,066
JBrowse link
G Qpct glutaminyl-peptide cyclotransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16033404 NCBI chr 6:15,964,656...15,996,925
Ensembl chr 6:15,964,657...15,996,711
JBrowse link
G Rab32 RAB32, member RAS oncogene family ISO CTD Direct Evidence: marker/mechanism CTD PMID:17374397 NCBI chr 1:4,946,193...4,961,003
Ensembl chr 1:4,945,036...4,960,934
JBrowse link
G Rgs1 regulator of G-protein signaling 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17374397 NCBI chr13:56,018,529...56,022,939
Ensembl chr13:56,018,554...56,022,984
JBrowse link
G Sat1 spermidine/spermine N1-acetyl transferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17374397 NCBI chr  X:40,158,354...40,161,641
Ensembl chr  X:40,157,046...40,196,813
JBrowse link
G Sele selectin E ISO CTD Direct Evidence: marker/mechanism CTD PMID:17597826 NCBI chr13:76,402,841...76,412,741
Ensembl chr13:76,403,304...76,412,741
JBrowse link
G Slc2a3 solute carrier family 2 member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17374397 NCBI chr 4:155,960,944...156,026,000
Ensembl chr 4:155,960,946...156,025,472
JBrowse link
G Slc7a5 solute carrier family 7 member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17374397 NCBI chr19:49,935,220...49,963,823
Ensembl chr19:49,935,220...49,963,823
JBrowse link
G Socs1 suppressor of cytokine signaling 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16033404 NCBI chr10:4,882,651...4,884,342
Ensembl chr10:4,882,560...4,884,383
JBrowse link
G Socs2 suppressor of cytokine signaling 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16033404 NCBI chr 7:30,006,360...30,045,161
Ensembl chr 7:30,008,578...30,043,548
JBrowse link
G Spp1 secreted phosphoprotein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14555839 NCBI chr14:5,308,885...5,315,120
Ensembl chr14:5,308,885...5,315,162
JBrowse link
G St6gal1 ST6 beta-galactoside alpha-2,6-sialyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16033404 NCBI chr11:77,526,837...77,653,474
Ensembl chr11:77,526,837...77,653,310
JBrowse link
G Stac SH3 and cysteine rich domain ISO CTD Direct Evidence: marker/mechanism CTD PMID:16033404 NCBI chr 8:111,530,800...111,653,228
Ensembl chr 8:111,530,800...111,654,008
JBrowse link
G Tap2 transporter 2, ATP binding cassette subfamily B member susceptibility ISO RGD PMID:9303338 RGD:6482276 NCBI chr20:4,636,347...4,650,387
Ensembl chr20:4,636,357...4,650,407
JBrowse link
G Tlr4 toll-like receptor 4 ISO RGD PMID:20711192 PMID:18725520 RGD:7777133, RGD:7794737 NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
JBrowse link
G Tlr7 toll-like receptor 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16033404 NCBI chr  X:27,027,380...27,054,309
Ensembl chr  X:27,027,425...27,054,754
JBrowse link
G Tmsb10 thymosin, beta 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17597826 NCBI chr 4:105,009,959...105,011,095
Ensembl chr 4:105,009,212...105,011,028
JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:15849067 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
JBrowse link
G Tnfaip6 TNF alpha induced protein 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16033404 PMID:17374397 NCBI chr 3:36,502,250...36,521,652
Ensembl chr 3:36,502,188...36,521,649
JBrowse link
G Tslp thymic stromal lymphopoietin treatment ISO RGD PMID:30187507 RGD:38596345 NCBI chr18:24,447,409...24,454,244
Ensembl chr18:24,449,844...24,453,548
JBrowse link
G Upp1 uridine phosphorylase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16033404 NCBI chr14:83,809,495...83,829,299
Ensembl chr14:83,809,960...83,829,462
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 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
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 7:14,234,504...14,235,881
Ensembl chr 7:14,234,504...14,235,881
JBrowse link
G Adam17 ADAM metallopeptidase domain 17 ISS OMIM:603165 MouseDO NCBI chr 6:40,872,936...40,920,700
Ensembl chr 6:40,872,856...40,920,639
JBrowse link
G Ahr aryl hydrocarbon receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:27869817 NCBI chr 6:52,234,089...52,271,568
Ensembl chr 6:52,234,089...52,271,568
JBrowse link
G Apoe apolipoprotein E ISO protein:decreased expression:plasma RGD PMID:19116453 RGD:11040546 NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
JBrowse link
G Artn artemin ISO CTD Direct Evidence: marker/mechanism CTD PMID:27869817 NCBI chr 5:131,458,596...131,470,193
Ensembl chr 5:131,464,756...131,468,025
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 3:96,165,042...96,215,621
Ensembl chr 3:96,165,042...96,215,615
JBrowse link
G C3 complement C3 ISO protein:increased expression:plasma RGD PMID:3923750 RGD:7401273 NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429
JBrowse link
G Card11 caspase recruitment domain family, member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23042114 PMID:28628108 NCBI chr12:13,620,979...13,758,115
Ensembl chr12:13,621,087...13,758,112
JBrowse link
G Casp8 caspase 8 ISS OMIM:603165 MouseDO NCBI chr 9:60,263,863...60,312,542
Ensembl chr 9:60,264,075...60,312,542
JBrowse link
G Ccdc80 coiled-coil domain containing 80 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23042114 NCBI chr11:55,685,165...55,718,827
Ensembl chr11:55,685,872...55,719,137
JBrowse link
G Ccl11 C-C motif chemokine ligand 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18249437 NCBI chr10:67,028,328...67,032,929
Ensembl chr10:67,028,328...67,032,926
JBrowse link
G Ccl17 C-C motif chemokine ligand 17 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18249437 NCBI chr19:10,202,317...10,203,768
Ensembl chr19:10,202,128...10,203,819
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 9:84,389,031...84,391,629
Ensembl chr 9:84,388,904...84,391,629
JBrowse link
G Ccl22 C-C motif chemokine ligand 22 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18249437 PMID:22125604 NCBI chr19:10,257,602...10,264,373
Ensembl chr19:10,257,601...10,264,400
JBrowse link
G Ccl24 C-C motif chemokine ligand 24 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18249437 NCBI chr12:21,100,835...21,104,832
Ensembl chr12:21,100,835...21,104,893
JBrowse link
G Ccl26 C-C motif chemokine ligand 26 ISO protein:increased expression:serum (human) RGD PMID:14616792 RGD:11087554 NCBI chr12:21,109,384...21,114,336
Ensembl chr12:21,109,421...21,114,335
JBrowse link
G Ccl27 C-C motif chemokine ligand 27 ISO RGD PMID:12642842 RGD:1626250 NCBI chr 5:56,941,402...56,948,511
Ensembl chr 5:56,941,402...56,948,506
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 2:51,601,354...51,625,999
Ensembl chr 2:51,601,331...51,625,997
JBrowse link
G Ccl5 C-C motif chemokine ligand 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18249437 NCBI chr10:68,322,826...68,327,365
Ensembl chr10:68,322,829...68,327,377
JBrowse link
G Ccr2 C-C motif chemokine receptor 2 ISO protein:increased expression:skin,monocyte: RGD PMID:15370700 RGD:8661734 NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100
JBrowse link
G Ccr3 C-C motif chemokine receptor 3 ISO protein:increased expression:skin
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:18249437 PMID:16449815 RGD:6893391 NCBI chr 8:123,586,100...123,634,178
Ensembl chr 8:123,616,236...123,634,990
JBrowse link
G Ccr5 C-C motif chemokine receptor 5 ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:18249437 PMID:16449815 RGD:6893391 NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
JBrowse link
G Cd40 CD40 molecule ISO RGD PMID:18693155 RGD:5132274 NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
JBrowse link
G Cdsn corneodesmosin ISO protein:decreased expression:skin of body (human) RGD PMID:21211653 RGD:42721970 NCBI chr20:3,179,432...3,185,854
Ensembl chr20:3,179,438...3,184,250
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 chr11:74,421,569...74,436,728
Ensembl chr11:74,421,569...74,436,724
JBrowse link
G Cldn23 claudin 23 ISO mRNA:decreased expression:epidermis: RGD PMID:21163515 RGD:11344875 NCBI chr16:56,413,677...56,415,401
Ensembl chr16:56,413,381...56,415,523
JBrowse link
G Cma1 chymase 1 ISO DNA:polymorphism:5' utr:g.-1903G>A rs1800875 (human) RGD PMID:16134991 RGD:1625394 NCBI chr15:29,417,451...29,420,233
Ensembl chr15:29,417,451...29,420,233
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 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
JBrowse link
G Ctse cathepsin E ISS OMIM:603165 MouseDO NCBI chr13:43,091,954...43,114,509
Ensembl chr13:43,092,128...43,114,502
JBrowse link
G Cx3cl1 C-X3-C motif chemokine ligand 1 ISO protein:increased expression:serum RGD PMID:15131578 RGD:9491761 NCBI chr19:10,227,337...10,237,826
Ensembl chr19:10,227,340...10,236,833
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 8:119,785,726...119,799,431
Ensembl chr 8:119,782,595...119,800,014
JBrowse link
G Cxcl10 C-X-C motif chemokine ligand 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18249437 NCBI chr14:15,704,772...15,706,969
Ensembl chr14:15,704,758...15,706,975
JBrowse link
G Cxcr3 C-X-C motif chemokine receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18249437 NCBI chr  X:66,844,318...66,846,969
Ensembl chr  X:66,844,318...66,846,969
JBrowse link
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27869817 NCBI chr 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125
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 7:11,426,806...11,505,553
Ensembl chr 7:11,433,371...11,536,181
JBrowse link
G Dock8 dedicator of cytokinesis 8 ISO DNA:mutations:cds: RGD PMID:22476911 RGD:40903056 NCBI chr 1:222,649,309...222,842,474
Ensembl chr 1:222,649,309...222,842,474
JBrowse link
G Emsy EMSY transcriptional repressor, BRCA2 interacting ISO CTD Direct Evidence: marker/mechanism CTD PMID:23042114 NCBI chr 1:152,881,485...152,960,420
Ensembl chr 1:152,883,992...152,953,528
JBrowse link
G F2 coagulation factor II ISO protein:increased expression:plasma RGD PMID:21488867 RGD:5147756 NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486
JBrowse link
G Fcgr2a Fc gamma receptor IIa severity ISO protein:increased expression:eosinophil RGD PMID:7564170 PMID:19414806 RGD:5147985, RGD:5508430 NCBI chr13:83,280,782...83,297,535
Ensembl chr13:83,280,784...83,295,967
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:17417636 More... NCBI chr 2:178,888,688...178,912,731 JBrowse link
G Glb1 galactosidase, beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23042114 NCBI chr 8:114,085,508...114,158,127
Ensembl chr 8:114,085,508...114,158,127
JBrowse link
G Gstm1 glutathione S-transferase mu 1 susceptibility ISO DNA:deletion: : RGD PMID:21176116 PMID:20674822 RGD:5490539, RGD:5490981 NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
JBrowse link
G Gstp1 glutathione S-transferase pi 1 susceptibility ISO DNA:polymorphism:exon:p.I105V (rs1695) (human) RGD PMID:19842992 PMID:20674822 RGD:5490540, RGD:5490981 NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226
JBrowse link
G Gstt1 glutathione S-transferase theta 1 ISO DNA:deletion, haplotype: : RGD PMID:19842992 RGD:5490540 NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585
JBrowse link
G Havcr1 hepatitis A virus cellular receptor 1 ISO RGD PMID:16159638 RGD:5128852 NCBI chr10:31,118,667...31,151,730
Ensembl chr10:31,119,088...31,151,698
JBrowse link
G Hnmt histamine N-methyltransferase ISO RGD PMID:19025430 RGD:5128889 NCBI chr 3:6,591,804...6,623,821
Ensembl chr 3:6,591,463...6,624,012
JBrowse link
G Ifng interferon gamma ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:18249437 PMID:22101570 RGD:8157618 NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
JBrowse link
G Ifnl3 interferon, lambda 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22295096 NCBI chr 1:83,814,456...83,816,096 JBrowse link
G Il10 interleukin 10 treatment ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:18249437 PMID:23843958 RGD:7364805 NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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
RGD
PMID:18249437 PMID:22355542 PMID:21913997 PMID:16672002 PMID:17313488 More... RGD:5684364, RGD:8549583, RGD:8549539, RGD:8549531, RGD:8549529, RGD:8549509 NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737
JBrowse link
G Il13ra1 interleukin 13 receptor subunit alpha 1 ISO mRNA:increased expression:skin RGD PMID:14527737 RGD:8549525 NCBI chr  X:115,348,860...115,408,682
Ensembl chr  X:115,348,860...115,408,681
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:111,002,590...111,074,053
Ensembl chr  X:111,002,592...111,072,381
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 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889
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
RGD
PMID:15317323 PMID:22840759 PMID:22840759 PMID:11490156 PMID:17517100 RGD:8655872, RGD:8655914, RGD:8655914, RGD:8655908, RGD:8655876 NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:18249437 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
JBrowse link
G Il21r interleukin 21 receptor ISO protein:increased expression:skin RGD PMID:19075398 PMID:19075398 RGD:6892938, RGD:6892938 NCBI chr 1:180,168,028...180,195,690
Ensembl chr 1:180,168,097...180,195,522
JBrowse link
G Il25 interleukin 25 ISO protein:increased expression:arm skin RGD PMID:23657503 RGD:39128244 NCBI chr15:28,408,842...28,411,676
Ensembl chr15:28,408,842...28,411,893
JBrowse link
G Il31 interleukin 31 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18249437 NCBI chr12:33,095,108...33,105,026 JBrowse link
G Il33 interleukin 33 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18249437 NCBI chr 1:227,701,964...227,736,374
Ensembl chr 1:227,721,435...227,736,373
JBrowse link
G Il4 interleukin 4 ISO DNA:SNP:promoter:-590C>T (human)
CTD Direct Evidence: marker/mechanism
protein:increased expression:serum
CTD
RGD
PMID:11886533 PMID:12230500 PMID:18249437 PMID:9643293 PMID:8363440 RGD:7829786, RGD:7829795 NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
JBrowse link
G Il4r interleukin 4 receptor susceptibility ISO DNA:mutation:cds:p.Q576R(human) RGD PMID:9392697 RGD:11530001 NCBI chr 1:180,115,061...180,139,981
Ensembl chr 1:180,115,120...180,139,980
JBrowse link
G Il5 interleukin 5 ISO mRNA: increased expression: skin
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:11886533 PMID:18249437 PMID:22299064 RGD:5687175 NCBI chr10:37,874,342...37,877,213
Ensembl chr10:37,874,342...37,877,213
JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18249437 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
JBrowse link
G Kcnj11 potassium inwardly-rectifying channel, subfamily J, member 11 ISO ClinVar Annotator: match by term: Dermatitis, atopic ClinVar NCBI chr 1:96,591,048...96,594,574
Ensembl chr 1:96,591,049...96,594,082
JBrowse link
G Mapk8 mitogen-activated protein kinase 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24046278 NCBI chr16:8,638,897...8,721,960
Ensembl chr16:8,638,924...8,721,981
JBrowse link
G Mbl2 mannose binding lectin 2 susceptibility ISO DNA:polymorphisms:promoter, exon: RGD PMID:20642202 RGD:8693720 NCBI chr 1:228,016,439...228,024,736 JBrowse link
G Mc1r melanocortin 1 receptor ISO protein: increased expression: skin RGD PMID:19889022 RGD:5687321 NCBI chr19:51,452,448...51,455,375 JBrowse link
G Mmp9 matrix metallopeptidase 9 treatment ISO RGD PMID:27776525 RGD:13204759 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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 1:208,440,179...208,448,716
Ensembl chr 1:208,440,361...208,448,310
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 chr16:22,207,362...22,238,513
Ensembl chr16:22,208,194...22,238,520
JBrowse link
G Nfkbia NFKB inhibitor alpha ISS OMIM:603165 MouseDO NCBI chr 6:72,858,713...72,861,941
Ensembl chr 6:72,858,712...72,861,941
JBrowse link
G Nfkbiz NFKB inhibitor zeta ISS OMIM:603165 MouseDO NCBI chr11:44,782,676...44,810,723
Ensembl chr11:44,782,676...44,810,723
JBrowse link
G Ngf nerve growth factor ISO protein:increased expression:serum: RGD PMID:17073871 RGD:8657069 NCBI chr 2:189,901,058...189,954,452
Ensembl chr 2:189,901,058...189,954,452
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 chr10:80,515,287...80,533,518
Ensembl chr10:80,515,299...80,533,518
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 2:173,236,961...173,253,806
Ensembl chr 2:173,236,963...173,253,770
JBrowse link
G Ovol1 ovo like transcriptional repressor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23042114 NCBI chr 1:202,855,261...202,868,858
Ensembl chr 1:202,855,265...202,866,831
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
RGD
PMID:18249437 PMID:21633371 RGD:5509940 NCBI chr 7:116,832,405...116,900,878
Ensembl chr 7:116,832,756...116,895,346
JBrowse link
G Ppia peptidylprolyl isomerase A ISO mRNA:increased expression:zone of skin (human) RGD PMID:32496587 RGD:150383342 NCBI chr14:81,279,292...81,282,960
Ensembl chr14:81,275,091...81,299,601
JBrowse link
G Relb RELB proto-oncogene, NF-kB subunit ISO
ISS
OMIM:603165 MouseDO
RGD
PMID:10940923 RGD:7777149 NCBI chr 1:79,257,738...79,285,490
Ensembl chr 1:79,257,725...79,285,507
JBrowse link
G S100a8 S100 calcium binding protein A8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18336422 NCBI chr 2:176,166,517...176,167,645
Ensembl chr 2:176,167,124...176,167,643
JBrowse link
G Sele selectin E ISO CTD Direct Evidence: marker/mechanism CTD PMID:12410700 NCBI chr13:76,402,841...76,412,741
Ensembl chr13:76,403,304...76,412,741
JBrowse link
G Selp selectin P ISO atopy and bronchial hyperresponsiveness, OMIM:147050 RGD PMID:12929084 RGD:1599904 NCBI chr13:76,476,229...76,511,846
Ensembl chr13:76,476,295...76,511,845
JBrowse link
G Sharpin SHANK-associated RH domain interactor ISS OMIM:603165 MouseDO NCBI chr 7:108,070,681...108,075,012
Ensembl chr 7:108,070,687...108,074,955
JBrowse link
G Slc11a1 solute carrier family 11 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16597321 NCBI chr 9:75,957,193...75,968,115
Ensembl chr 9:75,957,316...75,968,101
JBrowse link
G Stat6 signal transducer and activator of transcription 6 ISO CTD Direct Evidence: therapeutic CTD PMID:15306842 NCBI chr 7:63,480,229...63,497,551
Ensembl chr 7:63,479,642...63,498,495
JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO GAD
RGD
PMID:15118671 PMID:11496247 RGD:1331525, RGD:7394812 NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
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 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
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 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
JBrowse link
G Tmem79 transmembrane protein 79 ISS OMIM:603165 MouseDO NCBI chr 2:173,798,267...173,803,151
Ensembl chr 2:173,798,267...173,803,046
JBrowse link
G Tnf tumor necrosis factor susceptibility ISO DNA:haplotype:promoter:−308G>A,-238G>A(human) RGD PMID:22533231 RGD:7401246 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
JBrowse link
G Tnfaip6 TNF alpha induced protein 6 ISO mRNA:altered expression:fibroblast RGD PMID:16650051 RGD:7777183 NCBI chr 3:36,502,250...36,521,652
Ensembl chr 3:36,502,188...36,521,649
JBrowse link
G Traf3ip2 Traf3 interacting protein 2 ISS OMIM:603165 MouseDO NCBI chr20:43,011,405...43,054,654
Ensembl chr20:43,011,450...43,054,667
JBrowse link
G Trpv3 transient receptor potential cation channel, subfamily V, member 3 ISS OMIM:603165 MouseDO NCBI chr10:57,883,546...57,915,865
Ensembl chr10:57,883,546...57,913,296
JBrowse link
G Tslp thymic stromal lymphopoietin treatment ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:16880407 PMID:22355542 PMID:23688403 PMID:27869817 PMID:29310423 RGD:38549374 NCBI chr18:24,447,409...24,454,244
Ensembl chr18:24,449,844...24,453,548
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 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677
JBrowse link
G Vnn1 vanin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19322213 NCBI chr 1:21,537,084...21,547,395
Ensembl chr 1:21,537,094...21,547,395
JBrowse link
G Wasl WASP like actin nucleation promoting factor ISS OMIM:603165 MouseDO NCBI chr 4:53,083,536...53,132,061
Ensembl chr 4:53,083,536...53,132,022
JBrowse link
G Zfp365 zinc finger protein 365 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23042114 NCBI chr20:20,666,240...20,689,734
Ensembl chr20:20,666,240...20,691,238
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 More... NCBI chr 2:178,888,688...178,912,731 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 chr10:103,193,909...103,197,322
Ensembl chr10:103,193,537...103,197,787
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 More... NCBI chr15:45,626,835...45,646,313
Ensembl chr15:45,626,835...45,646,313
JBrowse link
G Odc1 ornithine decarboxylase 1 ISS OMIM:209500 MouseDO NCBI chr 6:40,329,831...40,336,444
Ensembl chr 6:40,329,964...40,336,440
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 More... NCBI chr 8:109,604,877...109,637,252
Ensembl chr 8:109,604,861...109,637,252
JBrowse link
G Krt14 keratin 14 ISO ClinVar Annotator: match by term: Cockayne-Touraine type epidermolysis bullosa ClinVar PMID:7561171 PMID:9284105 NCBI chr10:85,137,932...85,141,990
Ensembl chr10:85,066,802...85,171,799
JBrowse link
G Krt5 keratin 5 ISO ClinVar Annotator: match by term: Cockayne-Touraine type epidermolysis bullosa ClinVar PMID:11973334 PMID:18384561 PMID:21144712 PMID:25741868 PMID:28425111 More... NCBI chr 7:132,846,355...132,851,986
Ensembl chr 7:132,846,136...132,851,850
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 6:40,872,936...40,920,700
Ensembl chr 6:40,872,856...40,920,639
JBrowse link
G Anxa1 annexin A1 ISO associated with Hypersensitivity, Delayed;protein:increased expression:mononuclear cell RGD PMID:10331485 RGD:7421575 NCBI chr 1:217,861,175...217,877,205
Ensembl chr 1:217,861,175...217,877,343
JBrowse link
G Col7a1 collagen type VII alpha 1 chain ISO ClinVar Annotator: match by term: Blisters ClinVar PMID:9881948 PMID:12787275 PMID:16971478 PMID:22266148 PMID:25741868 More... NCBI chr 8:109,604,877...109,637,252
Ensembl chr 8:109,604,861...109,637,252
JBrowse link
G Mfn2 mitofusin 2 ISO ClinVar Annotator: match by term: Blisters ClinVar PMID:15064763 PMID:16437557 PMID:16714318 PMID:16835246 PMID:17215403 More... NCBI chr 5:158,304,285...158,335,502
Ensembl chr 5:158,304,287...158,335,342
JBrowse link
G Ppox protoporphyrinogen oxidase ISO ClinVar Annotator: match by term: Blisters ClinVar NCBI chr13:83,697,661...83,701,998
Ensembl chr13:83,664,891...83,701,805
JBrowse link
BLISTERING, ACANTHOLYTIC, OF ORAL AND LARYNGEAL MUCOSA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dsg3 desmoglein 3 ISO ClinVar Annotator: match by term: BLISTERING, ACANTHOLYTIC, OF ORAL AND LARYNGEAL MUCOSA OMIM
ClinVar
PMID:30528827 NCBI chr18:11,798,905...11,833,415
Ensembl chr18:11,798,900...11,830,818
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 chr12:21,109,384...21,114,336
Ensembl chr12:21,109,421...21,114,335
JBrowse link
G Cfb complement factor B ISO RGD PMID:17024247 RGD:7421522 NCBI chr20:3,970,643...3,976,510 JBrowse link
G Col17a1 collagen type XVII alpha 1 chain ISS MouseDO NCBI chr 1:246,530,589...246,577,632
Ensembl chr 1:246,531,367...246,577,632
JBrowse link
G F2 coagulation factor II ISO protein:increased expression:plasma RGD PMID:21488867 RGD:5147756 NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486
JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO RGD PMID:1377725 RGD:8547591 NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
JBrowse link
G Il2 interleukin 2 ISO RGD PMID:1973607 RGD:8663461 NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO RGD PMID:9687525 RGD:8547843 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
JBrowse link
G Vegfa vascular endothelial growth factor A ISO mRNA:increased expression: : RGD PMID:7738351 RGD:7421578 NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
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 chr15:40,161,068...40,200,315
Ensembl chr15:40,174,617...40,200,315
JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO protein:increased expression:serum (human) RGD PMID:11448121 RGD:8549794 NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
JBrowse link
G Ptger3 prostaglandin E receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21966456 NCBI chr 2:246,606,131...246,750,970
Ensembl chr 2:246,606,183...246,684,434
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 chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
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 chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
JBrowse link
G Tnf tumor necrosis factor ISO protein:increased expression:Conjunctiva: RGD PMID:7750940 RGD:7394786 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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 term: Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige
ClinVar Annotator: match by OMIM:615508
OMIM
ClinVar
PMID:23974871 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr18:11,674,687...11,705,383
Ensembl chr18:11,674,402...11,703,443
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 chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078
JBrowse link
G Ahr aryl hydrocarbon receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:25724174 NCBI chr 6:52,234,089...52,271,568
Ensembl chr 6:52,234,089...52,271,568
JBrowse link
G Akr1b10 aldo-keto reductase family 1 member B10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25724174 NCBI chr 4:63,038,459...63,060,336
Ensembl chr 4:63,040,169...63,053,852
JBrowse link
G Akr1c2 aldo-keto reductase family 1, member C2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25724174 NCBI chr17:65,759,778...65,808,013
Ensembl chr17:65,759,788...65,775,764
JBrowse link
G Anxa1 annexin A1 ISO RGD PMID:23267026 RGD:7421573 NCBI chr 1:217,861,175...217,877,205
Ensembl chr 1:217,861,175...217,877,343
JBrowse link
G Bcl2 BCL2, apoptosis regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:25724174 NCBI chr13:22,689,783...22,853,920 JBrowse link
G Casp8 caspase 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25724174 NCBI chr 9:60,263,863...60,312,542
Ensembl chr 9:60,264,075...60,312,542
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 ISO protein:increased expression:serum (mouse) RGD PMID:22679019 RGD:9590167 NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
JBrowse link
G Ccl27 C-C motif chemokine ligand 27 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25724174 NCBI chr 5:56,941,402...56,948,511
Ensembl chr 5:56,941,402...56,948,506
JBrowse link
G Ccn2 cellular communication network factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25724174 NCBI chr 1:20,802,199...20,805,315
Ensembl chr 1:20,802,199...20,805,734
JBrowse link
G Ccr1 C-C motif chemokine receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25724174 NCBI chr 8:123,556,286...123,561,841 JBrowse link
G Cd44 CD44 molecule (Indian blood group) ISO CTD Direct Evidence: marker/mechanism CTD PMID:25724174 NCBI chr 3:89,155,850...89,244,615
Ensembl chr 3:89,157,058...89,244,620
JBrowse link
G Cd46 CD46 molecule ISO RGD PMID:12055630 RGD:6483467 NCBI chr13:106,575,586...106,606,325 JBrowse link
G Cd86 CD86 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:25724174 NCBI chr11:64,142,193...64,200,816
Ensembl chr11:64,163,828...64,200,818
JBrowse link
G Cldn1 claudin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23136956 NCBI chr11:74,421,569...74,436,728
Ensembl chr11:74,421,569...74,436,724
JBrowse link
G Crhr1 corticotropin releasing hormone receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12631246 NCBI chr10:89,040,203...89,083,481
Ensembl chr10:89,040,203...89,083,481
JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 ISO RGD PMID:11348467 RGD:7421503 NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
JBrowse link
G Ctss cathepsin S ISO CTD Direct Evidence: marker/mechanism CTD PMID:25724174 NCBI chr 2:183,089,192...183,114,483
Ensembl chr 2:183,086,437...183,114,483
JBrowse link
G Cxcl14 C-X-C motif chemokine ligand 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25724174 NCBI chr17:8,317,933...8,325,956
Ensembl chr17:8,317,933...8,324,839
JBrowse link
G Cxcr3 C-X-C motif chemokine receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25724174 NCBI chr  X:66,844,318...66,846,969
Ensembl chr  X:66,844,318...66,846,969
JBrowse link
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25724174 NCBI chr 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125
JBrowse link
G Cyp1b1 cytochrome P450, family 1, subfamily b, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25724174 NCBI chr 6:15,342,312...15,350,886
Ensembl chr 6:15,342,344...15,350,917
JBrowse link
G Ddit3 DNA-damage inducible transcript 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25724174 NCBI chr 7:63,115,645...63,121,203
Ensembl chr 7:63,116,380...63,121,201
JBrowse link
G Defb1 defensin beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25724174 NCBI chr16:70,298,862...70,313,604
Ensembl chr16:70,298,863...70,313,604
JBrowse link
G Dusp1 dual specificity phosphatase 1 treatment ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:25724174 PMID:23076500 RGD:7771535 NCBI chr10:16,680,489...16,683,276 JBrowse link
G Esr2 estrogen receptor 2 severity ISO RGD PMID:18167605 RGD:8694123 NCBI chr 6:94,858,438...94,909,630
Ensembl chr 6:94,809,547...94,908,919
JBrowse link
G F11r F11 receptor ISO RGD PMID:15343392 RGD:7488917 NCBI chr13:83,873,797...83,897,388
Ensembl chr13:83,873,797...83,897,402
JBrowse link
G Fabp4 fatty acid binding protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25724174 NCBI chr 2:91,580,858...91,585,578
Ensembl chr 2:91,580,885...91,585,578
JBrowse link
G Flg filaggrin ISO CTD Direct Evidence: marker/mechanism CTD PMID:25724174 NCBI chr 2:178,888,688...178,912,731 JBrowse link
G Fth1 ferritin heavy chain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25724174 NCBI chr 1:206,627,142...206,629,430
Ensembl chr 1:206,627,103...206,725,424
JBrowse link
G G6pd glucose-6-phosphate dehydrogenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:25724174 NCBI chr  X:152,201,081...152,220,863
Ensembl chr  X:152,201,098...152,220,801
JBrowse link
G Gclc glutamate-cysteine ligase, catalytic subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:25724174 NCBI chr 8:78,629,899...78,668,547
Ensembl chr 8:78,630,127...78,668,544
JBrowse link
G Glb1 galactosidase, beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25724174 NCBI chr 8:114,085,508...114,158,127
Ensembl chr 8:114,085,508...114,158,127
JBrowse link
G Gsr glutathione-disulfide reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:25724174 NCBI chr16:58,482,209...58,525,256
Ensembl chr16:58,482,505...58,525,661
JBrowse link
G Gss glutathione synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:25724174 NCBI chr 3:144,047,849...144,078,197
Ensembl chr 3:144,047,850...144,078,198
JBrowse link
G Gstp1 glutathione S-transferase pi 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25724174 NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226
JBrowse link
G Hdac4 histone deacetylase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25724174 NCBI chr 9:92,503,467...92,750,164
Ensembl chr 9:92,507,611...92,750,164
JBrowse link
G Hmox1 heme oxygenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25724174 NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
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 6:129,702,376...129,707,907
Ensembl chr 6:129,702,383...129,707,268
JBrowse link
G Hspb1 heat shock protein family B (small) member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25724174 NCBI chr12:20,794,014...20,795,675
Ensembl chr12:20,794,028...20,795,743
JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO RGD PMID:20182448 RGD:5685684 NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
JBrowse link
G Igfbp2 insulin-like growth factor binding protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25724174 NCBI chr 9:74,415,574...74,442,945
Ensembl chr 9:74,415,546...74,442,937
JBrowse link
G Igfbp6 insulin-like growth factor binding protein 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25724174 NCBI chr 7:133,276,309...133,280,944
Ensembl chr 7:133,276,234...133,280,966
JBrowse link
G Il13 interleukin 13 treatment ISO RGD PMID:19951958 RGD:8549563 NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737
JBrowse link
G Il18 interleukin 18 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25724174 NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
JBrowse link
G Il4 interleukin 4 treatment ISO RGD PMID:12188032 RGD:7829776 NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
JBrowse link
G Ing1 inhibitor of growth family, member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25724174 NCBI chr16:77,937,276...77,945,320
Ensembl chr16:77,937,279...77,946,264
JBrowse link
G Kdr kinase insert domain receptor ISO RGD PMID:15500639 RGD:5684424 NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018
JBrowse link
G Kif2c kinesin family member 2C ISO CTD Direct Evidence: marker/mechanism CTD PMID:25724174 NCBI chr 5:130,637,347...130,662,680
Ensembl chr 5:130,637,347...130,662,637
JBrowse link
G Krt10 keratin 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25724174 NCBI chr10:84,338,695...84,343,279
Ensembl chr10:84,338,706...84,343,701
JBrowse link
G Krt2 keratin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25724174 NCBI chr 7:132,941,275...132,947,963
Ensembl chr 7:132,940,862...132,947,963
JBrowse link
G Krt4 keratin 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25724174 NCBI chr 7:133,046,067...133,052,027
Ensembl chr 7:133,046,515...133,052,019
JBrowse link
G Lcn2 lipocalin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25724174 NCBI chr 3:15,680,688...15,684,033
Ensembl chr 3:15,680,687...15,684,095
JBrowse link
G Lta lymphotoxin alpha ISO RGD PMID:11390430 RGD:8548819 NCBI chr20:3,618,853...3,621,324
Ensembl chr20:3,618,853...3,620,859
JBrowse link
G Ltb lymphotoxin beta ISO RGD PMID:11390430 RGD:8548819 NCBI chr20:3,627,536...3,629,381
Ensembl chr20:3,627,537...3,629,381
JBrowse link
G Mlana melan-A ISO CTD Direct Evidence: marker/mechanism CTD PMID:25724174 NCBI chr 1:227,469,537...227,483,343
Ensembl chr 1:227,469,537...227,483,343
JBrowse link
G Mmp10 matrix metallopeptidase 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25724174 NCBI chr 8:4,689,840...4,697,748
Ensembl chr 8:4,689,840...4,697,748
JBrowse link
G Mmp8 matrix metallopeptidase 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25724174 NCBI chr 8:4,724,009...4,732,956
Ensembl chr 8:4,724,029...4,733,520
JBrowse link
G Nqo1 NAD(P)H quinone dehydrogenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25724174 NCBI chr19:35,295,633...35,310,528
Ensembl chr19:35,295,573...35,310,557
JBrowse link
G Nqo2 N-ribosyldihydronicotinamide:quinone reductase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25724174 NCBI chr17:30,909,482...30,938,725
Ensembl chr17:30,909,187...30,938,320
JBrowse link
G Nrg1 neuregulin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25724174 NCBI chr16:59,250,658...60,303,024
Ensembl chr16:59,250,854...60,296,884
JBrowse link
G Osm oncostatin M ISO CTD Direct Evidence: marker/mechanism CTD PMID:25724174 NCBI chr14:79,103,638...79,108,500
Ensembl chr14:79,104,344...79,108,313
JBrowse link
G Pir pirin ISO CTD Direct Evidence: marker/mechanism CTD PMID:25724174 NCBI chr  X:30,108,536...30,219,269
Ensembl chr  X:30,108,538...30,219,218
JBrowse link
G Prdx6 peroxiredoxin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25724174 NCBI chr13:73,528,746...73,539,295
Ensembl chr13:73,528,210...73,539,355
JBrowse link
G Psmd12 proteasome 26S subunit, non-ATPase 12 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25724174 NCBI chr10:92,438,223...92,457,323
Ensembl chr10:92,438,298...92,457,287
JBrowse link
G RT1-DMa RT1 class II, locus DMa ISO CTD Direct Evidence: marker/mechanism CTD PMID:18348411 NCBI chr20:4,707,028...4,710,432
Ensembl chr20:4,707,028...4,710,432
JBrowse link
G S100a8 S100 calcium binding protein A8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25724174 NCBI chr 2:176,166,517...176,167,645
Ensembl chr 2:176,167,124...176,167,643
JBrowse link
G Sell selectin L ISO RGD PMID:20182448 RGD:5685684 NCBI chr13:76,416,969...76,436,444
Ensembl chr13:76,416,915...76,436,456
JBrowse link
G Serpinb3 serpin family B member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25724174 NCBI chr13:23,274,120...23,280,082
Ensembl chr13:23,274,484...23,313,682
JBrowse link
G Serpinb3a serpin family B member 3A ISO CTD Direct Evidence: marker/mechanism CTD PMID:25724174 NCBI chr13:23,241,303...23,246,328 JBrowse link
G Slc7a11 solute carrier family 7 member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25724174 NCBI chr 2:134,382,002...134,517,622
Ensembl chr 2:133,963,107...134,517,536
JBrowse link
G Sod1 superoxide dismutase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25724174 NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249
JBrowse link
G Sod3 superoxide dismutase 3 ISO CTD Direct Evidence: therapeutic CTD PMID:17392825 NCBI chr14:58,610,104...58,615,845
Ensembl chr14:58,609,958...58,615,990
JBrowse link
G Stoml2 stomatin like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25724174 NCBI chr 5:57,256,227...57,259,824
Ensembl chr 5:57,256,220...57,259,920
JBrowse link
G Tlr4 toll-like receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18725520 NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
JBrowse link
G Tlr8 toll-like receptor 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25724174 NCBI chr  X:27,091,780...27,116,092
Ensembl chr  X:27,091,778...27,116,549
JBrowse link
G Tnfsf9 TNF superfamily member 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25724174 NCBI chr 9:1,944,017...1,946,351
Ensembl chr 9:1,944,017...1,946,345
JBrowse link
G Tpsab1 tryptase alpha/beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25724174 NCBI chr10:14,360,396...14,362,811
Ensembl chr10:14,360,396...14,362,811
JBrowse link
G Txn1 thioredoxin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25724174 NCBI chr 5:72,712,334...72,724,564
Ensembl chr 5:72,711,933...72,724,629
JBrowse link
G Txnrd1 thioredoxin reductase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25724174 NCBI chr 7:20,830,042...20,914,990
Ensembl chr 7:20,830,045...20,907,863
JBrowse link
G Ugt1a1 UDP glucuronosyltransferase family 1 member A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25724174 NCBI chr 9:88,801,344...88,808,465 JBrowse link
G Ugt1a6 UDP glucuronosyltransferase family 1 member A6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25724174 NCBI chr 9:88,747,229...88,808,465 JBrowse link
G Vegfa vascular endothelial growth factor A ISO CTD Direct Evidence: marker/mechanism CTD PMID:25724174 NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
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:887325 PMID:1339317 PMID:7063265 PMID:9150142 PMID:9443879 More... NCBI chr16:7,764,983...7,835,587
Ensembl chr16:7,765,013...7,835,587
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 chr12:21,968,544...22,011,929
Ensembl chr12:21,968,544...22,011,928
JBrowse link
G Lta lymphotoxin alpha ISO DNA:polymorphism RGD PMID:7914110 RGD:8548777 NCBI chr20:3,618,853...3,621,324
Ensembl chr20:3,618,853...3,620,859
JBrowse link
G Tnf tumor necrosis factor ISO DNA:polymorphism:promoter RGD PMID:7914110 RGD:8548777 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
JBrowse link
G Vegfa vascular endothelial growth factor A ISO mRNA:increased expression: : RGD PMID:7738351 RGD:7421578 NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
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 4:149,531,329...149,578,696
Ensembl chr 4:149,531,515...149,578,743
JBrowse link
G Apoa1 apolipoprotein A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21055120 NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035
JBrowse link
G Apoc2 apolipoprotein C2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21055120 NCBI chr 1:79,329,429...79,334,397
Ensembl chr 1:79,329,428...79,334,476
JBrowse link
G Apoc3 apolipoprotein C3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21055120 NCBI chr 8:46,531,478...46,533,658
Ensembl chr 8:46,531,478...46,533,583
JBrowse link
G Bdnf brain-derived neurotrophic factor ISO mRNA:increased expression:lymph node, ear: RGD PMID:19904815 RGD:8657071 NCBI chr 3:96,165,042...96,215,621
Ensembl chr 3:96,165,042...96,215,615
JBrowse link
G C4b complement C4B (Chido blood group) ISO CTD Direct Evidence: marker/mechanism CTD PMID:21055120 NCBI chr20:4,197,371...4,211,684
Ensembl chr20:4,197,366...4,211,681
JBrowse link
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19351467 NCBI chr 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125
JBrowse link
G Cyp2c6v1 cytochrome P450, family 2, subfamily C, polypeptide 6, variant 1 susceptibility
treatment
ISO DNA:SNP: :Rs4244285(human)
associated with tuberculosis; DNA.polymorphism, haplotype:cds:p.W212X (human)
RGD PMID:23551241 PMID:20941486 RGD:11352742, RGD:124713543 NCBI chr 1:237,938,521...237,976,238
Ensembl chr 1:237,693,094...238,057,596
JBrowse link
G Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19351467 NCBI chr 1:195,840,330...195,850,728
Ensembl chr 1:195,840,058...195,864,023
JBrowse link
G Fcer1a Fc epsilon receptor Ia ISO CTD Direct Evidence: marker/mechanism CTD PMID:16502481 NCBI chr13:85,686,099...85,692,394
Ensembl chr13:85,686,092...85,692,351
JBrowse link
G Ifng interferon gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:31150805 NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
JBrowse link
G Il17a interleukin 17A ISO CTD Direct Evidence: marker/mechanism CTD PMID:31150805 NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889
JBrowse link
G Il18 interleukin 18 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18204966 NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
JBrowse link
G Il2 interleukin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31150805 NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
JBrowse link
G Il4 interleukin 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19351467 NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
JBrowse link
G Kng2 kininogen 2 ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:1371395 PMID:3034372 NCBI chr11:77,913,876...77,936,247 JBrowse link
G Mpo myeloperoxidase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18204966 NCBI chr10:72,594,458...72,608,862
Ensembl chr10:72,594,661...72,604,819
JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:14723717 NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
JBrowse link
G Rela RELA proto-oncogene, NF-kB subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:31150805 NCBI chr 1:202,925,001...202,935,484
Ensembl chr 1:202,924,945...202,935,484
JBrowse link
G RT1-Ba RT1 class II, locus Ba susceptibility ISO DNA:polymorphisms:exon: RGD PMID:16836882 RGD:8547665 NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
JBrowse link
G RT1-Bb RT1 class II, locus Bb ISO CTD Direct Evidence: marker/mechanism CTD PMID:16502481 NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
JBrowse link
G Tac1 tachykinin, precursor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:1371395 NCBI chr 4:35,679,183...35,687,180
Ensembl chr 4:35,679,704...35,687,178
JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:31150805 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
JBrowse link
G Ttr transthyretin ISO CTD Direct Evidence: marker/mechanism CTD PMID:21055120 NCBI chr18:11,941,791...11,951,008
Ensembl chr18:11,943,789...11,951,008
JBrowse link
Drug Hypersensitivity Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C1qa complement C1q A chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:34142820 NCBI chr 5:149,133,635...149,136,482
Ensembl chr 5:149,133,636...149,136,534
JBrowse link
G C1qb complement C1q B chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:34142820 NCBI chr 5:149,118,843...149,124,394
Ensembl chr 5:149,118,846...149,124,407
JBrowse link
G C1qc complement C1q C chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:34142820 NCBI chr 5:149,127,424...149,130,732
Ensembl chr 5:149,127,415...149,131,017
JBrowse link
G Cfhr1 complement factor H-related 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34142820 NCBI chr13:51,395,583...51,410,571
Ensembl chr13:51,369,211...51,410,592
JBrowse link
G Crp C-reactive protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:34142820 NCBI chr13:85,131,635...85,175,179
Ensembl chr13:85,124,977...85,175,178
JBrowse link
G Hspa1l heat shock protein family A (Hsp70) member 1 like ISO DNA:polymorphism, haplotype: :p.M493T (human) RGD PMID:15024131 RGD:8662461 NCBI chr20:3,848,843...3,855,571
Ensembl chr20:3,848,843...3,855,571
JBrowse link
G Il1b interleukin 1 beta ISO DNA:SNP:promoter:-511C>T (rs 16944) (human) RGD PMID:23461376 RGD:11051970 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO DNA:SNP:intron:rs2234663 (human) RGD PMID:23461376 RGD:11051970 NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
JBrowse link
G Lbp lipopolysaccharide binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:34142820 NCBI chr 3:146,953,889...146,981,032
Ensembl chr 3:146,954,015...146,981,586
JBrowse link
G Lrg1 leucine-rich alpha-2-glycoprotein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34142820 NCBI chr 9:947,516...949,773
Ensembl chr 9:947,516...949,813
JBrowse link
G Orm1 orosomucoid 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34142820 NCBI chr 5:76,766,637...76,776,149
Ensembl chr 5:76,772,941...76,776,154
JBrowse link
G Vwf von Willebrand factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:34142820 NCBI chr 4:158,360,152...158,491,539
Ensembl chr 4:158,360,152...158,491,539
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 chr18:28,335,522...28,337,383
Ensembl chr18:28,335,340...28,337,261
JBrowse link
G Cd80 Cd80 molecule ISO DNA:SNP RGD PMID:22192168 RGD:6893665 NCBI chr11:62,254,543...62,293,414
Ensembl chr11:62,254,624...62,292,030
JBrowse link
G Dock8 dedicator of cytokinesis 8 ISO DNA:mutations: : RGD PMID:22534316 RGD:40902960 NCBI chr 1:222,649,309...222,842,474
Ensembl chr 1:222,649,309...222,842,474
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 More... NCBI chr 2:178,888,688...178,912,731 JBrowse link
G Havcr2 hepatitis A virus cellular receptor 2 ISO RGD PMID:16159638 RGD:5128852 NCBI chr10:30,882,484...30,914,018
Ensembl chr10:30,882,606...30,909,137
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 1:14,333,167...14,351,799
Ensembl chr 1:14,333,187...14,351,785
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 chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737
JBrowse link
G Il18 interleukin 18 ISO DNA:SNPs:promoter, exon:multiple RGD PMID:15806006 RGD:8655937 NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
JBrowse link
G Il4r interleukin 4 receptor susceptibility ISO DNA:SNP: : rs2057768 (human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:19759553 PMID:20002627 RGD:4890389 NCBI chr 1:180,115,061...180,139,981
Ensembl chr 1:180,115,120...180,139,980
JBrowse link
G Plau plasminogen activator, urokinase ISO RGD PMID:19416247 RGD:6483821 NCBI chr15:3,456,230...3,462,732
Ensembl chr15:3,456,232...3,462,775
JBrowse link
G Stat4 signal transducer and activator of transcription 4 ISO RGD PMID:22192168 RGD:6893665 NCBI chr 9:49,472,660...49,588,540 JBrowse link
G Xdh xanthine dehydrogenase ISO ClinVar Annotator: match by term: Eczema ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:21,530,463...21,592,172
Ensembl chr 6:21,530,113...21,592,268
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 chr12:21,109,384...21,114,336
Ensembl chr12:21,109,421...21,114,335
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 8:53,698,825...53,775,371
Ensembl chr 8:53,698,852...53,773,169
JBrowse link
G Itgb4 integrin subunit beta 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18348258 NCBI chr10:101,206,657...101,243,012
Ensembl chr10:101,206,665...101,243,012
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: Dystrophic epidermolysis bullosa
ClinVar Annotator: match by term: Hallopeau-Siemens Disease
ClinVar Annotator: match by term: Epidermolysis Bullosa Dystrophica
ClinVar Annotator: match by term: Epidermolysis bullosa dystrophica, AD, Epidermolysis bullosa dystrophica, AR
ClinVar Annotator: match by OMIM:226600
ClinVar
OMIM
RGD
PMID:2653224 PMID:7577595 PMID:7695699 PMID:7833933 PMID:7861014 More... RGD:1600946 NCBI chr 8:109,604,877...109,637,252
Ensembl chr 8:109,604,861...109,637,252
JBrowse link
G Igfbp3 insulin-like growth factor binding protein 3 ISO mRNA,protein:decreased expression:skin: RGD PMID:15140235 RGD:12743601 NCBI chr14:82,056,347...82,064,083
Ensembl chr14:82,056,347...82,064,083
JBrowse link
G Mir711 microRNA 711 ISO ClinVar Annotator: match by term: Dystrophic epidermolysis bullosa ClinVar PMID:25741868 NCBI chr 8:109,621,975...109,622,042
Ensembl chr 8:109,621,975...109,622,042
JBrowse link
G Mmp1 matrix metallopeptidase 1 severity ISO DNA:insertion:promoter:g.-1607_-1606insG (human) OMIM
RGD
PMID:18030675 RGD:8549728 NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097
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 Annotator: match by term: Epidermolysis bullosa dystrophica, autosomal recessive, localisata variant
ClinVar PMID:7695699 PMID:8218237 PMID:8755915 PMID:9536098 PMID:9804332 More... NCBI chr 8:109,604,877...109,637,252
Ensembl chr 8:109,604,861...109,637,252
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, autosomal recessive
ClinVar Annotator: match by term: DYSTROPHIC EPIDERMOLYSIS BULLOSA PRURIGINOSA
ClinVar Annotator: match by term: Epidermolysis bullosa pruriginosa, autosomal dominant
OMIM
ClinVar
PMID:8755915 PMID:9182828 PMID:9242516 PMID:9718359 PMID:9856844 More... NCBI chr 8:109,604,877...109,637,252
Ensembl chr 8:109,604,861...109,637,252
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 9:36,135,657...36,529,617
Ensembl chr 9:36,135,284...36,529,615
JBrowse link
G Itgb4 integrin subunit beta 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:101,206,657...101,243,012
Ensembl chr10:101,206,665...101,243,012
JBrowse link
G Krt14 keratin 14 susceptibility ISO DNA:point mutations
ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Cockayne-Touraine type
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:1717157 PMID:7561171 PMID:8601736 PMID:9284105 PMID:10583131 More... RGD:1600173 NCBI chr10:85,137,932...85,141,990
Ensembl chr10:85,066,802...85,171,799
JBrowse link
G Krt5 keratin 5 susceptibility ISO DNA:mutation
ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Cockayne-Touraine type
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:421361 PMID:1718160 PMID:2476664 PMID:6457621 PMID:7682695 More... RGD:1600195 NCBI chr 7:132,846,355...132,851,986
Ensembl chr 7:132,846,136...132,851,850
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO RGD PMID:23894602 RGD:13204851 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
JBrowse link
G Plec plectin ISO DNA:deletions: ; 2719de19, 5866delC; associated with muscular dystrophies
ClinVar Annotator: match by term: Epidermolysis bullosa simplex
ClinVar
RGD
PMID:11851880 PMID:23289980 PMID:25741868 PMID:8894687 RGD:1599911 NCBI chr 7:107,887,764...107,949,100
Ensembl chr 7:107,887,764...107,945,467
JBrowse link
Epidermolysis Bullosa Simplex 2E 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:9036937 PMID:12925204 PMID:15324323 More... NCBI chr 7:132,846,355...132,851,986
Ensembl chr 7:132,846,136...132,851,850
JBrowse link
Epidermolysis Bullosa Simplex 3, Localized or Generalized Intermediate, with BP230 Deficiency 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 More... NCBI chr 9:36,135,657...36,529,617
Ensembl chr 9:36,135,284...36,529,615
JBrowse link
Epidermolysis Bullosa Simplex 4, Localized or Generalized Intermediate, 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 term: Epidermolysis bullosa, nonspecific, autosomal recessive
ClinVar Annotator: match by This custom term has been created by RGD curators.
OMIM
ClinVar
PMID:23176819 PMID:25741868 NCBI chr 8:53,698,825...53,775,371
Ensembl chr 8:53,698,852...53,773,169
JBrowse link
Epidermolysis Bullosa Simplex 5C 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: Epidermolysis bullosa simplex with pyloric atresia
ClinVar Annotator: match by term: EBS WITH PYLORIC ATRESIA
ClinVar Annotator: match by null
ClinVar Annotator: match by OMIM:612138
OMIM
ClinVar
PMID:11851880 PMID:14675180 PMID:15654962 PMID:15681471 PMID:15810881 More... NCBI chr 7:107,887,764...107,949,100
Ensembl chr 7:107,887,764...107,945,467
JBrowse link
Epidermolysis Bullosa Simplex 5D 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 chr19:30,448,572...30,710,315
Ensembl chr19:30,448,637...30,710,313
JBrowse link
G Bclaf1 BCL2-associated transcription factor 1 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy ClinVar NCBI chr 1:15,088,436...15,117,666 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 chr16:76,254,433...76,281,139
Ensembl chr16:76,254,413...76,281,146
JBrowse link
G Frem2 FRAS1 related extracellular matrix 2 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy ClinVar NCBI chr 2:137,602,784...137,740,785
Ensembl chr 2:137,602,784...137,740,785
JBrowse link
G Gpr33 G protein-coupled receptor 33 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy ClinVar NCBI chr 6:69,474,435...69,475,440
Ensembl chr 6:69,474,435...69,475,440
JBrowse link
G Hrnr hornerin ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy ClinVar
G Ids iduronate 2-sulfatase ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy ClinVar NCBI chr  X:149,025,977...149,046,639
Ensembl chr  X:149,025,976...149,046,663
JBrowse link
G Plec plectin ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy OMIM
ClinVar
PMID:11851880 PMID:15810881 PMID:22854623 PMID:25712130 PMID:25741868 More... NCBI chr 7:107,887,764...107,949,100
Ensembl chr 7:107,887,764...107,945,467
JBrowse link
G Rp1l1 RP1 like 1 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy ClinVar NCBI chr15:38,259,595...38,271,269
Ensembl chr15:38,259,928...38,270,316
JBrowse link
G Tmem249 transmembrane protein 249 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy ClinVar NCBI chr 7:108,256,535...108,259,429 JBrowse link
Epidermolysis Bullosa Simplex 7, with Nephropathy 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 term: Nephropathy with pretibial epidermolysis bullosa and deafness
ClinVar Annotator: match by OMIM:609057
OMIM
ClinVar
PMID:15265795 PMID:25741868 PMID:25741871 NCBI chr 1:196,564,744...196,568,753
Ensembl chr 1:196,565,181...196,568,753
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
ISS
ClinVar Annotator: match by term: Epidermolysis bullosa herpetiformis, Dowling-Meara
OMIM:131760
ClinVar Annotator: match by term: Epidermolysis bullosa simplex Dowling-Meara type
ClinVar
MouseDO
PMID:1717157 PMID:9804355 PMID:10583131 PMID:10730767 PMID:10733662 More... NCBI chr10:85,137,932...85,141,990
Ensembl chr10:85,066,802...85,171,799
JBrowse link
G Krt5 keratin 5 ISO
ISS
ClinVar Annotator: match by term: Epidermolysis bullosa herpetiformis, Dowling-Meara
OMIM:131760
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
MouseDO
PMID:1372711 PMID:8757772 PMID:10234505 PMID:10383750 PMID:10730767 More... NCBI chr 7:132,846,355...132,851,986
Ensembl chr 7:132,846,136...132,851,850
JBrowse link
epidermolysis bullosa simplex generalized type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt14 keratin 14 ISS OMIM:131900 MouseDO NCBI chr10:85,137,932...85,141,990
Ensembl chr10:85,066,802...85,171,799
JBrowse link
G Krt5 keratin 5 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex, generalized, with severe palmoplantar keratosis ClinVar PMID:11407989 NCBI chr 7:132,846,355...132,851,986
Ensembl chr 7:132,846,136...132,851,850
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 chr10:101,243,146...101,247,323
Ensembl chr10:101,235,994...101,247,337
JBrowse link
G Itgb4 integrin subunit beta 4 ISO
ISS
ClinVar Annotator: match by term: Localized epidermolysis bullosa simplex
OMIM:131800
ClinVar
MouseDO
PMID:12485428 PMID:25741868 NCBI chr10:101,206,657...101,243,012
Ensembl chr10:101,206,665...101,243,012
JBrowse link
G Krt14 keratin 14 ISO
ISS
ClinVar Annotator: match by term: Localized epidermolysis bullosa simplex
OMIM:131800
ClinVar
MouseDO
PMID:7506606 PMID:7561171 PMID:9284105 NCBI chr10:85,137,932...85,141,990
Ensembl chr10:85,066,802...85,171,799
JBrowse link
G Krt5 keratin 5 ISO ClinVar Annotator: match by term: Localized epidermolysis bullosa simplex ClinVar PMID:7520042 PMID:7537780 PMID:7688477 PMID:8807337 PMID:11973334 More... NCBI chr 7:132,846,355...132,851,986
Ensembl chr 7:132,846,136...132,851,850
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
OMIM
ClinVar
PMID:11851880 PMID:15810881 PMID:18414213 PMID:20016501 PMID:22854623 More... NCBI chr 7:107,887,764...107,949,100
Ensembl chr 7:107,887,764...107,945,467
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:421361 PMID:2476664 PMID:6457621 PMID:8799157 PMID:9129237 More... NCBI chr 7:132,846,355...132,851,986
Ensembl chr 7:132,846,136...132,851,850
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 7:108,301,623...108,319,439
Ensembl chr 7:108,301,415...108,319,436
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 7:108,172,062...108,195,875
Ensembl chr 7:108,172,066...108,195,931
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 7:108,319,429...108,330,023
Ensembl chr 7:108,319,434...108,329,934
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 7:108,067,106...108,069,483
Ensembl chr 7:108,067,115...108,069,479
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 7:108,377,943...108,380,824
Ensembl chr 7:108,364,381...108,380,021
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 7:108,223,860...108,235,413
Ensembl chr 7:108,218,524...108,234,299
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 7:108,047,831...108,050,573
Ensembl chr 7:108,047,831...108,050,573
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 7:108,259,097...108,262,528
Ensembl chr 7:108,257,160...108,262,513
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 7:108,387,969...108,391,566
Ensembl chr 7:108,387,969...108,390,049
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 7:108,051,896...108,055,479
Ensembl chr 7:108,051,861...108,055,484
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 7:107,962,194...107,965,368
Ensembl chr 7:107,962,207...107,965,366
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 7:108,091,918...108,094,740
Ensembl chr 7:108,091,951...108,094,737
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 7:108,196,040...108,223,011
Ensembl chr 7:108,196,056...108,223,011
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 7:108,380,634...108,388,364
Ensembl chr 7:108,376,011...108,388,484
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 7:108,075,173...108,078,252
Ensembl chr 7:108,075,189...108,078,249
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 7:108,098,708...108,172,146
Ensembl chr 7:108,102,734...108,172,146
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 7:108,011,472...108,051,751
Ensembl chr 7:108,011,475...108,035,297
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 7:107,949,031...107,958,377
Ensembl chr 7:107,949,043...107,958,304
JBrowse link
G Plec plectin ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex with muscular dystrophy
ClinVar Annotator: match by term: Epidermolysa bullosa simplex and limb girdle muscular dystrophy
ClinVar Annotator: match by term: EPIDERMOLYSIS 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:9536098 PMID:10446808 More... NCBI chr 7:107,887,764...107,949,100
Ensembl chr 7:107,887,764...107,945,467
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 7:108,240,986...108,244,636
Ensembl chr 7:108,240,986...108,244,636
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 7:108,176,608...108,178,626
Ensembl chr 7:108,176,608...108,178,626
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 7:108,070,681...108,075,012
Ensembl chr 7:108,070,687...108,074,955
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 7:108,333,380...108,337,553
Ensembl chr 7:108,333,381...108,337,553
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 7:108,246,003...108,267,642
Ensembl chr 7:108,262,612...108,268,034
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 7:107,980,857...108,007,716
Ensembl chr 7:107,983,796...108,007,479
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 7:108,256,535...108,259,429 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 7:108,345,704...108,360,792
Ensembl chr 7:108,346,047...108,360,750
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 7:108,341,989...108,345,837
Ensembl chr 7:108,341,989...108,345,837
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 More... NCBI chr 8:109,604,877...109,637,252
Ensembl chr 8:109,604,861...109,637,252
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:9536098 PMID:10395892 PMID:15210133 PMID:15941723 PMID:16175511 More... NCBI chr17:26,623,602...26,671,692
Ensembl chr17:26,623,588...26,671,800
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 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
JBrowse link
G Cd40lg CD40 ligand ISO RGD PMID:18050371 RGD:8547765 NCBI chr  X:135,127,119...135,138,302
Ensembl chr  X:135,126,969...135,138,306
JBrowse link
G Cd8a CD8a molecule susceptibility ISO associated with adult T-cell leukemia;mRNA:increased expression:blood (human) RGD PMID:32433748 RGD:124715447 NCBI chr 4:103,365,804...103,370,041
Ensembl chr 4:103,365,804...103,370,040
JBrowse link
G Masp2 MBL associated serine protease 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12904520 NCBI chr 5:159,035,892...159,049,561
Ensembl chr 5:159,035,911...159,049,580
JBrowse link
G RT1-Bb RT1 class II, locus Bb ISO DNA:polymorphisms (human) RGD PMID:9627123 RGD:5147868 NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
JBrowse link
G Vegfa vascular endothelial growth factor A ISO mRNA:increased expression: : RGD PMID:7738351 RGD:7421578 NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
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 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429
JBrowse link
G Cfb complement factor B ISO associated with Leprosy RGD PMID:2783924 RGD:7421527 NCBI chr20:3,970,643...3,976,510 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 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
JBrowse link
G Lta lymphotoxin alpha ISO associated with Sarcoidosis;DNA:polymorphism:intron RGD PMID:19225544 RGD:8548773 NCBI chr20:3,618,853...3,621,324
Ensembl chr20:3,618,853...3,620,859
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 NCBI chr20:3,314,984...3,318,037 JBrowse link
G Tnf tumor necrosis factor susceptibility ISO associated with Inflammatory Bowel Diseases;DNA:polymorphisms: :-1031T>C(human) RGD PMID:12198697 RGD:7364926 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
JBrowse link
G Vdr vitamin D receptor susceptibility ISO associated with Behcet Syndrome;DNA:polymorphism: : rs7975232(human) RGD PMID:24880677 RGD:13217417 NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677
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:15304086 PMID:19683336 PMID:21255986 PMID:22089833 PMID:22377713 More... NCBI chr18:36,264,452...36,333,143
Ensembl chr18:36,264,452...36,332,185
JBrowse link
Generalized Epidermolysis Bullosa Simplex 1B 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 chr11:80,843,621...80,877,693
Ensembl chr11:80,846,755...80,877,636
JBrowse link
G Krt14 keratin 14 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Koebner type OMIM
ClinVar
PMID:1703046 PMID:1720261 PMID:7682883 NCBI chr10:85,137,932...85,141,990
Ensembl chr10:85,066,802...85,171,799
JBrowse link
G Krt5 keratin 5 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Koebner type ClinVar PMID:1718160 PMID:7520042 PMID:7534039 PMID:7686424 PMID:8807337 More... NCBI chr 7:132,846,355...132,851,986
Ensembl chr 7:132,846,136...132,851,850
JBrowse link
Generalized Epidermolysis Bullosa Simplex 1D 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 9:36,135,657...36,529,617
Ensembl chr 9:36,135,284...36,529,615
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:8875963 PMID:10971341 More... NCBI chr10:85,137,932...85,141,990
Ensembl chr10:85,066,802...85,171,799
JBrowse link
G Krt5 keratin 5 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:132,846,355...132,851,986
Ensembl chr 7:132,846,136...132,851,850
JBrowse link
Generalized Epidermolysis Bullosa Simplex 2B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt5 keratin 5 ISO OMIM NCBI chr 7:132,846,355...132,851,986
Ensembl chr 7:132,846,136...132,851,850
JBrowse link
Generalized Epidermolysis Bullosa Simplex 2D term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt5 keratin 5 ISO OMIM NCBI chr 7:132,846,355...132,851,986
Ensembl chr 7:132,846,136...132,851,850
JBrowse link
Generalized Epidermolysis Bullosa Simplex 6 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 chr11:80,843,621...80,877,693
Ensembl chr11:80,846,755...80,877,636
JBrowse link
Generalized Severe Epidermolysis Bullosa Simplex 1A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt14 keratin 14 ISO OMIM NCBI chr10:85,137,932...85,141,990
Ensembl chr10:85,066,802...85,171,799
JBrowse link
Generalized Severe Epidermolysis Bullosa Simplex 2A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt5 keratin 5 ISO OMIM NCBI chr 7:132,846,355...132,851,986
Ensembl chr 7:132,846,136...132,851,850
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 More... NCBI chr 8:106,034,777...106,155,854
Ensembl chr 8:106,034,636...106,156,006
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 chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018
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 Annotator: match by term: Hypotrichosis and recurrent skin vesicles
ClinVar
OMIM
PMID:19765682 PMID:31790667 NCBI chr18:11,379,759...11,413,797
Ensembl chr18:11,377,347...11,413,797
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 7:132,976,618...132,981,844
Ensembl chr 7:132,976,620...132,981,844
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 chr10:79,990,160...80,022,206
Ensembl chr10:79,990,161...80,022,118
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 chr20:3,951,474...3,970,376
Ensembl chr20:3,951,474...3,976,505
JBrowse link
G Cbr1 carbonyl reductase 1 ISO CTD Direct Evidence: therapeutic CTD PMID:25818598 NCBI chr11:32,860,618...32,862,981
Ensembl chr11:32,908,950...32,911,393
JBrowse link
G Ier3 immediate early response 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27258892 NCBI chr20:2,928,378...2,929,582
Ensembl chr20:2,928,378...2,929,583
JBrowse link
G Il4 interleukin 4 IEP RGD PMID:19690449 RGD:2317271 NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
JBrowse link
G RT1-Ha RT1 class II, locus Ha ISO CTD Direct Evidence: marker/mechanism CTD PMID:27258892 NCBI chr20:4,760,631...4,770,662 JBrowse link
G Stat3 signal transducer and activator of transcription 3 treatment ISO RGD PMID:21511023 RGD:8694305 NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057
JBrowse link
G Trim10 tripartite motif-containing 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27258892 NCBI chr20:1,689,554...1,698,948
Ensembl chr20:1,689,562...1,698,252
JBrowse link
G Trim31 tripartite motif-containing 31 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27258892 NCBI chr20:1,653,165...1,666,494
Ensembl chr20:1,653,165...1,666,494
JBrowse link
G Trim40 tripartite motif-containing 40 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27258892 NCBI chr20:1,676,188...1,685,906
Ensembl chr20:1,676,270...1,685,214
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 junctionalis
ClinVar Annotator: match by term: Epidermolysis bullosa, junctional
ClinVar
RGD
PMID:7550320 PMID:9199555 PMID:9740252 PMID:10398261 PMID:10577906 More... RGD:1600884 NCBI chr 1:246,530,589...246,577,632
Ensembl chr 1:246,531,367...246,577,632
JBrowse link
G Itga6 integrin subunit alpha 6 ISO epidermolysis bullosa with pyloric atresia, OMIM:226730
ClinVar Annotator: match by term: Junctional epidermolysis bullosa
ClinVar
RGD
PMID:21357940 PMID:25741868 PMID:9185503 RGD:1600016 NCBI chr 3:56,604,512...56,689,428
Ensembl chr 3:56,617,268...56,689,428
JBrowse link
G Itgb4 integrin subunit beta 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:7545057 NCBI chr10:101,206,657...101,243,012
Ensembl chr10:101,206,665...101,243,012
JBrowse link
G Lama3 laminin subunit alpha 3 ISO ClinVar Annotator: match by term: Junctional epidermolysis bullosa
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:226700
ClinVar
CTD
RGD
PMID:12915477 PMID:25741868 PMID:8586427 RGD:1600080 NCBI chr18:3,523,168...3,751,722
Ensembl chr18:3,523,133...3,751,353
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
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:226700
ClinVar
CTD
RGD
PMID:7698759 PMID:8824879 PMID:8983017 PMID:9205497 PMID:9242513 More... RGD:1600209 NCBI chr13:104,833,810...104,875,405
Ensembl chr13:104,833,873...104,875,405
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
RGD
PMID:9856849 PMID:11231327 PMID:11810295 PMID:11907499 PMID:15370542 More... RGD:1600210 NCBI chr13:65,284,664...65,344,200
Ensembl chr13:65,284,664...65,344,200
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 3:56,604,512...56,689,428
Ensembl chr 3:56,617,268...56,689,428
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 More... NCBI chr18:3,523,168...3,751,722
Ensembl chr18:3,523,133...3,751,353
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 More... NCBI chr13:104,833,810...104,875,405
Ensembl chr13:104,833,873...104,875,405
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 More... NCBI chr13:65,284,664...65,344,200
Ensembl chr13:65,284,664...65,344,200
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 More... NCBI chr 1:246,530,589...246,577,632
Ensembl chr 1:246,531,367...246,577,632
JBrowse link
G Itgb4 integrin subunit beta 4 ISO ClinVar Annotator: match by OMIM:226650 OMIM
ClinVar
PMID:10792571 NCBI chr10:101,206,657...101,243,012
Ensembl chr10:101,206,665...101,243,012
JBrowse link
G Lama3 laminin subunit alpha 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 term: EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE
ClinVar Annotator: match by OMIM:226650
OMIM
ClinVar
PMID:11810295 PMID:16473856 PMID:24033266 PMID:25363238 PMID:25525159 More... NCBI chr18:3,523,168...3,751,722
Ensembl chr18:3,523,133...3,751,353
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 More... NCBI chr13:104,833,810...104,875,405
Ensembl chr13:104,833,873...104,875,405
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:16199547 More... NCBI chr13:65,284,664...65,344,200
Ensembl chr13:65,284,664...65,344,200
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 More... NCBI chr10:101,243,146...101,247,323
Ensembl chr10:101,235,994...101,247,337
JBrowse link
G Itga6 integrin subunit alpha 6 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 null
OMIM
ClinVar
PMID:9185503 PMID:25741868 PMID:28492532 NCBI chr 3:56,604,512...56,689,428
Ensembl chr 3:56,617,268...56,689,428
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 More... NCBI chr10:101,206,657...101,243,012
Ensembl chr10:101,206,665...101,243,012
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:11851880 PMID:15810881 PMID:22854623 PMID:25741868 PMID:28492532 More... NCBI chr 7:107,887,764...107,949,100
Ensembl chr 7:107,887,764...107,945,467
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 Annotator: match by term: Kindler syndrome
ClinVar
OMIM
PMID:12668616 PMID:12789646 PMID:14507403 PMID:14962093 PMID:15313809 More... NCBI chr 3:120,171,301...120,213,555
Ensembl chr 3:120,171,561...120,213,555
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 chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
JBrowse link
Localized Epidermolysis Bullosa Simplex 1C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Itgb4 integrin subunit beta 4 ISO OMIM NCBI chr10:101,206,657...101,243,012
Ensembl chr10:101,206,665...101,243,012
JBrowse link
G Krt14 keratin 14 ISO OMIM NCBI chr10:85,137,932...85,141,990
Ensembl chr10:85,066,802...85,171,799
JBrowse link
Localized Epidermolysis Bullosa Simplex 2C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt5 keratin 5 ISO OMIM NCBI chr 7:132,846,355...132,851,986
Ensembl chr 7:132,846,136...132,851,850
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 chr16:24,980,680...24,997,927
Ensembl chr16:24,980,697...24,998,016
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:9536098 PMID:17576681 PMID:22010916 PMID:25741868 PMID:25804906 More... NCBI chr 6:40,872,936...40,920,700
Ensembl chr 6:40,872,856...40,920,639
JBrowse link
G Iah1 isoamyl acetate hydrolyzing esterase 1 ISO ClinVar Annotator: match by term: Inflammatory skin and bowel disease, neonatal 1 ClinVar PMID:9536098 PMID:17576681 PMID:22010916 PMID:25741868 PMID:25804906 More... NCBI chr 6:40,865,530...40,872,747
Ensembl chr 6:40,865,502...40,872,978
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:24033266 PMID:24691054 PMID:24728327 PMID:25741868 PMID:28492532 NCBI chr14:91,176,931...91,349,722
Ensembl chr14:91,177,067...91,344,382
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 chr12:34,949,549...34,982,527 JBrowse link
G Bdkrb2 bradykinin receptor B2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30685357 NCBI chr 6:124,472,317...124,502,497
Ensembl chr 6:124,472,566...124,502,497
JBrowse link
G Foxp3 forkhead box P3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29477354 NCBI chr  X:14,908,494...14,924,994
Ensembl chr  X:14,908,494...14,923,838
JBrowse link
G Il10 interleukin 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29477354 NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
JBrowse link
G Il13 interleukin 13 ISO RGD PMID:19254288 RGD:8549579 NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737
JBrowse link
G Kng2 kininogen 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30685357 NCBI chr11:77,913,876...77,936,247 JBrowse link
G Nat1 N-acetyltransferase 1 susceptibility ISO DNA:polymorphisms::
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:19834256 PMID:19834256 RGD:8552685 NCBI chr16:22,218,217...22,238,516 JBrowse link
G Nat2 N-acetyltransferase 2 susceptibility ISO DNA:polymorphisms::
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:19834256 PMID:19834256 RGD:8552685 NCBI chr16:22,207,362...22,238,513
Ensembl chr16:22,208,194...22,238,520
JBrowse link
G RT1-DMa RT1 class II, locus DMa ISO CTD Direct Evidence: marker/mechanism CTD PMID:16737583 NCBI chr20:4,707,028...4,710,432
Ensembl chr20:4,707,028...4,710,432
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 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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:9536098 PMID:11971877 PMID:14595024 PMID:15580218 PMID:16527883 More... NCBI chr 8:56,499,287...56,538,593
Ensembl chr 8:56,499,590...56,538,580
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 chr20:3,179,432...3,185,854
Ensembl chr20:3,179,438...3,184,250
JBrowse link
G Chst8 carbohydrate sulfotransferase 8 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:87,294,144...87,435,900
Ensembl chr 1:87,294,540...87,435,900
JBrowse link
G Serpinb8 serpin family B member 8 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr13:23,626,945...23,650,270
Ensembl chr13:23,626,945...23,650,835
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 More... NCBI chr20:3,179,432...3,185,854
Ensembl chr20:3,179,438...3,184,250
JBrowse link
G Tgm5 transglutaminase 5 ISO ClinVar Annotator: match by term: Peeling skin syndrome 1 ClinVar PMID:22622422 NCBI chr 3:108,008,087...108,014,813
Ensembl chr 3:108,008,143...108,043,976
JBrowse link
Peeling Skin Syndrome 2 term browser