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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:A skin disease characterized by itchy, erythematous, vesicular, weeping and crusting patches of skin. (DO)
Synonyms:exact_synonym: dermatitides;   inflammatory skin disease;   skin inflammation
 primary_id: MESH:D003872
 xref: EFO:1000636;   ICD10CM:L30.9;   NCI:C2983
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
dermatitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adrb2 adrenoceptor beta 2 susceptibility ISO DNA:polymorphism:cds:p.Q27E(human) RGD PMID:16955193 RGD:8548494 NCBI chr18:57,912,760...57,914,802
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 3:163,933,768...164,021,377
Ensembl chr 3:143,555,696...143,561,171 		JBrowse link
G Clock clock circadian regulator ISO RGD PMID:21149897 RGD:10401871 NCBI chr14:32,262,747...32,346,872
Ensembl chr14:31,908,566...31,990,400 		JBrowse link
G Csk C-terminal Src kinase ISO RGD PMID:14975240 RGD:5134363 NCBI chr 8:66,925,650...66,944,861
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 4:152,060,781...152,073,628
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 chr18:11,948,098...11,980,455
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 2:220,893,660...220,976,331
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 chr14:95,378,626...95,551,358
Ensembl chr14:91,177,067...91,344,382 		JBrowse link
G Fgf2 fibroblast growth factor 2 ISO RGD PMID:16507899 RGD:8554852 NCBI chr 2:122,164,454...122,218,796
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 2:178,884,793...178,912,986 JBrowse link
G Foxp3 forkhead box P3 ISO RGD PMID:22466646 RGD:38549359 NCBI chr  X:17,580,380...17,601,181
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 7:10,620,422...10,639,457
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 8:27,829,688...27,841,618
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 chr16:76,021,968...76,075,717
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 chr10:38,290,926...38,293,483
Ensembl chr10:37,790,130...37,792,737 		JBrowse link
G Il18 interleukin 18 ISO RGD PMID:12925208 RGD:8655896 NCBI chr 8:59,802,072...59,829,275
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 chr10:38,272,003...38,277,549
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 chr20:11,061,009...11,097,242
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 chr19:34,555,832...34,596,281
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 chr13:94,839,484...94,871,295
Ensembl chr13:92,307,586...92,339,404 		JBrowse link
G Pla2g4a phospholipase A2 group 4A ISO CTD Direct Evidence: marker/mechanism CTD PMID:18287786 NCBI chr13:64,427,921...64,572,352
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 chr15:33,253,071...33,262,025
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 chr20:4,577,057...4,581,650
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 chr20:3,314,491...3,322,815 JBrowse link
G Sharpin SHANK-associated RH domain interactor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19650867 NCBI chr 7:109,951,336...109,955,552
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 chr17:12,756,493...12,830,927
Ensembl chr17:12,604,619...12,661,410 		JBrowse link
G Tnf tumor necrosis factor ISO RGD PMID:3171214 RGD:7394823 NCBI chr20:3,626,685...3,629,303
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 chr10:58,382,054...58,413,657
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 2:206,723,050...206,742,783
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 1:92,796,628...92,799,108
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 9:91,837,139...91,839,736
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 chr20:5,138,553...5,204,189
Ensembl chr20:5,136,441...5,202,337 		JBrowse link
G Mkln1 muskelin 1 ISO Acrodermatitis, lethal, MKLN1-related 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 chr20:4,668,952...4,674,421
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 7:110,214,017...110,218,202
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
ISS		 DNA:deletions, snp, missense mutations:multiple (human)
ClinVar Annotator: match by term: Acrodermatitis enteropathica zinc deficiency type | ClinVar Annotator: match by term: Hereditary acrodermatitis enteropathica | ClinVar Annotator: match by term: SLC39A4-related condition
OMIM:201100
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:11035780 PMID:11254458 PMID:12032886 PMID:12068297 PMID:12787121 More... RGD:1599005 NCBI chr 7:110,214,017...110,218,202
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 chr20:4,550,594...4,560,182
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 chr13:23,204,464...23,366,900
Ensembl chr13:22,684,989...22,853,743
Ensembl chr13:22,684,989...22,853,743 		JBrowse link
G Bmp6 bone morphogenetic protein 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17374397 NCBI chr17:26,523,704...26,785,558
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 3:89,835,071...89,932,616
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 9:67,747,109...67,806,699
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 chr19:10,208,120...10,218,340
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 5:61,759,220...61,761,164
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 chr10:68,820,330...68,824,906
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 8:132,433,711...132,439,266 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 8:132,611,883...132,619,106
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 8:132,463,533...132,511,601
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 8:132,629,097...132,660,980
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 4:18,209,088...18,302,142
Ensembl chr 4:17,354,466...17,513,903 		JBrowse link
G Cd3d CD3 delta subunit of T-cell receptor complex ISO CTD Direct Evidence: marker/mechanism CTD PMID:17597826 NCBI chr 8:54,184,573...54,190,112
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 4:148,124,924...148,137,806
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 8:116,850,969...116,855,917
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 chr17:58,932,011...59,001,160
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 1:151,440,860...151,472,430
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 chr14:17,465,210...17,467,255
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 8:66,991,940...66,998,014
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 2:50,803,468...50,858,001
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 chr11:48,491,057...48,507,843
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 chr17:28,021,197...28,197,960
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 4:14,602,762...14,608,405
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 chr12:12,333,050...12,504,750
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 1:211,010,259...211,031,013
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 chr13:107,277,526...107,327,462
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 chr16:18,709,570...18,713,635
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 7:55,789,180...55,793,216
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 1:185,041,462...185,051,956
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 chr13:45,024,921...45,029,586
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 8:59,802,072...59,829,275
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 1:165,784,916...165,787,990
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 3:136,979,804...136,990,236
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 2:121,932,968...121,937,672
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 chr17:71,759,802...71,808,475
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 chr10:38,272,003...38,277,549
Ensembl chr10:37,771,203...37,776,750 		JBrowse link
G Il5 interleukin 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15347381 NCBI chr10:38,375,132...38,378,003
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 1:45,654,252...45,857,045
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 1:192,089,496...192,139,947
Ensembl chr 1:182,659,000...182,709,503 		JBrowse link
G Jam2 junctional adhesion molecule 2 ISO RGD PMID:16297198 RGD:7488919 NCBI chr11:37,316,287...37,366,517
Ensembl chr11:23,831,106...23,880,063 		JBrowse link
G Jam3 junctional adhesion molecule 3 ISO RGD PMID:16297198 RGD:7488919 NCBI chr 8:33,767,606...33,828,451
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 chr14:32,572,031...32,615,204
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 chr13:90,089,340...90,121,108
Ensembl chr13:87,557,286...87,588,881 		JBrowse link
G Mc1r melanocortin 1 receptor ISO RGD PMID:20126537 RGD:5687319 NCBI chr19:68,360,950...68,363,877
Ensembl chr19:51,453,239...51,454,192 		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 chr11:37,261,114...37,261,178
Ensembl chr11:23,774,654...23,774,718 		JBrowse link
G Mir21 microRNA 21 treatment IEP RGD PMID:29282578 RGD:41404666 NCBI chr10:71,902,600...71,902,691
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 1:199,926,150...199,952,847
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 8:12,925,267...12,938,828
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 3:174,103,474...174,111,434
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 chr17:82,157,725...82,239,411
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 4:120,654,731...120,678,972
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 6:55,152,756...55,189,547
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 chr16:26,984,882...27,005,194
Ensembl chr16:22,208,194...22,238,520 		JBrowse link
G Nat2 N-acetyltransferase 2 susceptibility ISO DNA:polymorphisms: : RGD PMID:16533241 RGD:8552663 NCBI chr16:26,974,874...27,005,191
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 3:81,001,529...81,031,165
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 chr17:15,659,208...15,668,115
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 1:165,709,893...165,784,848
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 4:148,030,237...148,037,599
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 chr20:7,556,496...7,560,747
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 chr16:75,943,061...76,022,037
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 6:21,716,824...21,748,895
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 1:6,766,448...6,781,258
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 chr13:58,568,844...58,573,187
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:44,008,089...44,011,376
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 chr13:78,935,997...78,945,905
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 4:157,632,887...157,698,034
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 chr19:66,843,808...66,872,412
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 chr10:5,389,574...5,391,265
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 7:31,890,564...31,932,092
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 chr14:5,613,569...5,620,695
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 chr20:4,638,257...4,652,296
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 5:85,161,247...85,174,882
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:30,644,324...30,670,796
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 4:106,568,080...106,569,210
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 chr20:3,626,685...3,629,303
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 3:56,911,398...56,930,797
Ensembl chr 3:36,502,188...36,521,649 		JBrowse link
G Tslp thymic stromal lymphopoietin treatment ISO RGD PMID:30187507 RGD:38596345 NCBI chr18:24,723,990...24,728,419
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 chr14:88,023,155...88,043,036
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 9:22,452,854...22,468,194
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 6:46,601,583...46,663,690
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 6:57,961,423...57,998,901
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 1:88,481,889...88,485,816
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 5:136,750,188...136,755,645
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 3:116,619,633...116,670,212
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 9:2,174,412...2,201,339
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 chr12:18,735,088...18,872,045
Ensembl chr12:13,621,087...13,758,112 		JBrowse link
G Casp8 caspase 8 ISS OMIM:603165 MouseDO NCBI chr 9:67,747,109...67,806,699
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 chr11:69,191,188...69,224,844
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 chr10:67,525,975...67,530,576
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 chr19:10,208,120...10,218,340
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 9:91,837,139...91,839,736
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 chr19:10,263,589...10,270,359
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 chr12:26,737,423...26,741,420
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 chr12:26,745,972...26,750,924
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 5:61,737,261...61,744,375
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 2:53,334,071...53,358,709
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 chr10:68,820,330...68,824,906
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 8:132,611,883...132,619,106
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 8:132,463,533...132,511,601
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 8:132,629,097...132,660,980
Ensembl chr 8:123,752,325...123,759,260 		JBrowse link
G Cd40 CD40 molecule ISO RGD PMID:18693155 RGD:5132274 NCBI chr 3:174,209,113...174,224,592
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...3,184,252
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 chr11:87,926,376...87,941,533
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 chr15:33,387,351...33,390,133
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 9:69,812,859...69,819,959
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 chr19:10,233,326...10,244,856
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 8:128,661,294...128,679,048
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 chr14:15,989,066...15,991,263
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:70,884,293...70,886,944
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 8:66,991,940...66,998,014
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: Atopic eczema ClinVar PMID:25741868 NCBI chr 7:12,082,821...12,156,076
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 1:232,075,468...232,268,830
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, thrombin ISO protein:increased expression:plasma RGD PMID:21488867 RGD:5147756 NCBI chr 3:98,051,958...98,065,246
Ensembl chr 3:77,596,198...77,609,486 		JBrowse link
G Fcgr2a Fc gamma receptor 2A severity ISO protein:increased expression:eosinophil RGD PMID:7564170 PMID:19414806 RGD:5147985, RGD:5508430 NCBI chr13:85,813,516...85,830,269
Ensembl chr13:83,280,784...83,295,967 		JBrowse link
G Flg filaggrin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Atopic eczema | ClinVar Annotator: match by term: Dermatitis, atopic		 CTD
ClinVar		 PMID:3163778 PMID:16444271 PMID:16550169 PMID:16815158 PMID:17030239 More... NCBI chr 2:178,884,793...178,912,986 JBrowse link
G Glb1 galactosidase, beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23042114 NCBI chr 8:122,963,718...123,036,326
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 2:198,338,005...198,346,007
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 1:210,767,237...210,770,242
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 chr20:12,856,068...12,873,020
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 chr10:31,619,914...31,652,955
Ensembl chr10:31,119,088...31,151,698 		JBrowse link
G Hnmt histamine N-methyltransferase ISO RGD PMID:19025430 RGD:5128889 NCBI chr 3:26,978,274...27,010,291
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:33274957 PMID:22101570 RGD:8157618 NCBI chr 7:55,789,180...55,793,216
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 1:92,941,988...92,943,628
Ensembl chr 1:83,814,564...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 chr13:45,024,921...45,029,586
Ensembl chr13:42,472,839...42,477,313 		JBrowse link
G Il13 interleukin 13 severity
treatment		 ISO
ISS		 DNA:SNPs: :rs3091307, rs20541 (human)
OMIM:603165
CTD Direct Evidence: marker/mechanism
DNA:SNP:exon:4257G>A (human)
DNA, protein:SNP, increased expression:promoter, serum:-1112C>T (human)		 MouseDO
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 chr10:38,290,926...38,293,483
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:120,213,670...120,294,777
Ensembl chr  X:115,348,860...115,408,681
Ensembl chr11:115,348,860...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:115,814,620...115,886,080
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 9:30,640,844...30,644,331
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 8:59,802,072...59,829,275
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 3:137,030,200...137,036,581
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 2:121,932,968...121,937,672
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 Il23a interleukin 23 subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:33274957 NCBI chr 7:1,306,320...1,308,434
Ensembl chr 7:721,809...723,923 		JBrowse link
G Il25 interleukin 25 ISO protein:increased expression:arm skin RGD PMID:23657503 RGD:39128244 NCBI chr15:32,378,750...32,382,141
Ensembl chr15:28,408,842...28,411,893 		JBrowse link
G Il31 interleukin 31 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18249437 NCBI chr12:38,756,231...38,765,917
Ensembl chr12:33,092,097...33,105,037 		JBrowse link
G Il33 interleukin 33 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18249437 NCBI chr 1:237,115,478...237,149,897
Ensembl chr 1:227,721,435...227,736,373 		JBrowse link
G Il4 interleukin 4 ISO
ISS		 DNA:SNP:promoter:-590C>T (human)
OMIM:603165
CTD Direct Evidence: marker/mechanism
protein:increased expression:serum		 MouseDO
CTD
RGD		 PMID:11886533 PMID:12230500 PMID:18249437 PMID:9643293 PMID:8363440 RGD:7829786, RGD:7829795 NCBI chr10:38,272,003...38,277,549
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 1:189,545,739...189,570,639
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:33274957 PMID:22299064 RGD:5687175 NCBI chr10:38,375,132...38,378,003
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 4:5,889,999...5,894,575
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: Atopic eczema ClinVar NCBI chr 1:105,727,473...105,731,167
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 chr16:8,645,171...8,728,225
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 1:237,429,873...237,465,567 JBrowse link
G Mc1r melanocortin 1 receptor ISO protein: increased expression: skin RGD PMID:19889022 RGD:5687321 NCBI chr19:68,360,950...68,363,877
Ensembl chr19:51,453,239...51,454,192 		JBrowse link
G Mmp9 matrix metallopeptidase 9 treatment ISO RGD PMID:27776525 RGD:13204759 NCBI chr 3:174,103,474...174,111,434
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 1:217,864,855...217,873,934
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 chr16:26,974,874...27,005,191
Ensembl chr16:22,208,194...22,238,520 		JBrowse link
G Nfkbia NFKB inhibitor alpha ISS OMIM:603165 MouseDO NCBI chr 6:78,593,844...78,597,307
Ensembl chr 6:72,858,712...72,861,941 		JBrowse link
G Nfkbiz NFKB inhibitor zeta ISS OMIM:603165 MouseDO NCBI chr11:58,251,720...58,279,767
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 2:192,589,580...192,642,971
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 chr10:81,012,077...81,030,305
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 2:175,534,844...175,551,664
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 1:212,284,601...212,296,106
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 7:118,712,261...118,780,723
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 chr14:85,491,223...85,496,884
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 1:88,385,717...88,413,380
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 2:178,464,095...178,465,223
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 chr13:78,935,997...78,945,905
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 chr13:79,009,379...79,044,994
Ensembl chr13:76,476,295...76,511,845 		JBrowse link
G Sharpin SHANK-associated RH domain interactor ISS OMIM:603165 MouseDO NCBI chr 7:109,951,336...109,955,552
Ensembl chr 7:108,070,687...108,074,955 		JBrowse link
G Shoc2 SHOC2 leucine-rich repeat scaffold protein ISO associated with Noonan syndrome and related diseases; DNA:mutation:cds:c.4A>G (p.S2G)(human) RGD PMID:20882035 RGD:11071178 NCBI chr 1:262,964,345...263,052,898
Ensembl chr 1:252,959,723...253,047,337 		JBrowse link
G Slc11a1 solute carrier family 11 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16597321 NCBI chr 9:83,406,327...83,417,252
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 7:65,365,505...65,382,825
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 1:90,324,312...90,340,627
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 2:171,499,189...171,504,831
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 5:85,161,247...85,174,882
Ensembl chr 5:80,145,826...80,159,628 		JBrowse link
G Tmem79 transmembrane protein 79 ISS OMIM:603165 MouseDO NCBI chr 2:176,096,092...176,100,996
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 chr20:3,626,685...3,629,303
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 3:56,911,398...56,930,797
Ensembl chr 3:36,502,188...36,521,649 		JBrowse link
G Traf3ip2 Traf3 interacting protein 2 ISS OMIM:603165 MouseDO NCBI chr20:44,565,992...44,609,240
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 chr10:58,382,054...58,413,657
Ensembl chr10:57,883,546...57,913,296 		JBrowse link
G Tslp thymic stromal lymphopoietin treatment ISO
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:603165		 CTD
MouseDO
RGD		 PMID:16880407 PMID:22355542 PMID:23688403 PMID:27869817 PMID:29310423 RGD:38549374 NCBI chr18:24,723,990...24,728,419
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 7:130,864,764...130,916,757
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 1:23,356,324...23,366,629
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 4:54,049,081...54,097,653
Ensembl chr 4:53,083,536...53,132,022 		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
ISS		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Dermatitis, atopic, 2 | ClinVar Annotator: match by term: Dermatitis, atopic, 2, susceptibility to
OMIM:605803		 CTD
OMIM
ClinVar
MouseDO		 PMID:3163778 PMID:16444271 PMID:16550169 PMID:16815158 PMID:17030239 More... NCBI chr 2:178,884,793...178,912,986 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
ISS		 OMIM:209500
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Atrichia with papular lesions | ClinVar Annotator: match by term: Papular Atrichia		 OMIM
MouseDO
CTD
ClinVar		 PMID:8790387 PMID:9445480 PMID:9736769 PMID:9758627 PMID:9856480 More... NCBI chr15:52,036,540...52,056,019
Ensembl chr15:45,626,835...45,646,313 		JBrowse link
G Hrurf HR upstream open reading frame ISO ClinVar Annotator: match by term: Atrichia with papular lesions ClinVar PMID:25741868
G Odc1 ornithine decarboxylase 1 ISS OMIM:209500 MouseDO NCBI chr 6:46,058,439...46,065,148
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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1680286 PMID:2425097 PMID:5910871 PMID:7577595 PMID:7695699 More... NCBI chr 8:118,483,364...118,515,736
Ensembl chr 8:109,604,861...109,637,252 		JBrowse link
G Itgb4 integrin subunit beta 4 ISO ClinVar Annotator: match by term: Cockayne-Touraine type epidermolysis bullosa ClinVar PMID:25741868 PMID:28492532 NCBI chr10:101,705,592...101,741,933
Ensembl chr10:101,206,665...101,243,012 		JBrowse link
G Krt14 keratin 14 ISO ClinVar Annotator: match by term: Cockayne-Touraine type epidermolysis bullosa ClinVar PMID:25741868 PMID:28492532 NCBI chr10:85,137,786...85,142,054
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:7520042 PMID:7537780 PMID:7688477 PMID:8807337 PMID:9036937 More... NCBI chr 7:132,846,132...132,851,861
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 6:46,601,583...46,663,690
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 1:227,287,713...227,306,739
Ensembl chr 1:217,861,175...217,877,343 		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:25741868 PMID:30528827 NCBI chr18:12,074,321...12,105,954
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 chr12:26,745,972...26,750,924
Ensembl chr12:21,109,421...21,114,335 		JBrowse link
G Cfb complement factor B ISO RGD PMID:17024247 RGD:7421522 NCBI chr20:3,975,271...3,981,138
Ensembl chr20:3,951,474...3,976,505 		JBrowse link
G F2 coagulation factor II, thrombin ISO protein:increased expression:plasma RGD PMID:21488867 RGD:5147756 NCBI chr 3:98,051,958...98,065,246
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 8:27,829,688...27,841,618
Ensembl chr 8:19,553,645...19,565,438 		JBrowse link
G Il2 interleukin 2 ISO RGD PMID:1973607 RGD:8663461 NCBI chr 2:121,932,968...121,937,672
Ensembl chr 2:120,004,862...120,009,566 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO RGD PMID:9687525 RGD:8547843 NCBI chr 3:174,103,474...174,111,434
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 9:22,452,854...22,468,194
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 chr15:44,336,619...44,375,861
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 3:27,509,836...27,525,738
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 2:249,264,985...249,409,966
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 chr20:4,598,475...4,604,118
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 chr20:4,550,594...4,560,182
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 chr20:3,626,685...3,629,303
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 term: SAM SYNDROME OMIM
ClinVar		 PMID:23974871 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr18:11,948,098...11,980,455
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 chr20:4,152,758...4,155,956
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 6:57,961,423...57,998,901
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 4:64,005,632...64,027,860
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 chr17:70,669,684...70,717,935
Ensembl chr17:65,759,788...65,775,764 		JBrowse link
G Anxa1 annexin A1 ISO RGD PMID:23267026 RGD:7421573 NCBI chr 1:227,287,713...227,306,739
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 chr13:23,204,464...23,366,900
Ensembl chr13:22,684,989...22,853,743
Ensembl chr13:22,684,989...22,853,743 		JBrowse link
G Casp8 caspase 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25724174 NCBI chr 9:67,747,109...67,806,699
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 chr10:67,503,077...67,504,875
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 5:61,737,261...61,744,375
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 1:22,621,498...22,624,614
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 8:132,433,711...132,439,266 JBrowse link
G Cd44 CD44 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:25724174 NCBI chr 3:109,610,824...109,699,776
Ensembl chr 3:89,157,058...89,244,620 		JBrowse link
G Cd46 CD46 molecule ISO RGD PMID:12055630 RGD:6483467 NCBI chr13:109,104,122...109,134,903
Ensembl chr13:106,574,858...106,660,445 		JBrowse link
G Cd86 CD86 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:25724174 NCBI chr11:77,647,565...77,706,178
Ensembl chr11:64,163,828...64,200,818 		JBrowse link
G Cldn1 claudin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23136956 NCBI chr11:87,926,376...87,941,533
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 chr10:89,540,192...89,583,466
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 9:69,812,859...69,819,959
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 2:185,775,316...185,803,440
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 chr17:8,323,150...8,331,176
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:70,884,293...70,886,944
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 8:66,991,940...66,998,014
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 6:21,093,927...21,103,091
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 7:65,001,695...65,006,517
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 chr16:77,001,326...77,016,068
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 chr10:17,184,853...17,187,646 JBrowse link
G Esr2 estrogen receptor 2 severity ISO RGD PMID:18167605 RGD:8694123 NCBI chr 6:100,589,553...100,645,240
Ensembl chr 6:94,809,547...94,908,919 		JBrowse link
G F11r F11 receptor ISO RGD PMID:15343392 RGD:7488917 NCBI chr13:86,406,229...86,429,819
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 2:93,488,251...93,492,961
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 2:178,884,793...178,912,986 JBrowse link
G Fth1 ferritin heavy chain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25724174 NCBI chr 1:216,052,037...216,054,325
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:157,352,364...157,372,144
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 8:87,510,251...87,548,896
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 8:122,963,718...123,036,326
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 chr16:65,185,574...65,228,742
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 3:164,508,005...164,538,343
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 1:210,767,237...210,770,242
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 9:99,950,972...100,200,994
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 chr19:13,452,365...13,479,823
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 6:135,523,604...135,529,687
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 chr12:26,430,640...26,432,301
Ensembl chr12:20,794,028...20,795,743 		JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO RGD PMID:20182448 RGD:5685684 NCBI chr 8:27,829,688...27,841,618
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 9:81,864,811...81,892,179
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 7:135,154,919...135,159,550
Ensembl chr 7:133,276,234...133,280,966 		JBrowse link
G Il13 interleukin 13 treatment ISO RGD PMID:19951958 RGD:8549563 NCBI chr10:38,290,926...38,293,483
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 8:59,802,072...59,829,275
Ensembl chr 8:50,906,960...50,932,887 		JBrowse link
G Il4 interleukin 4 treatment ISO RGD PMID:12188032 RGD:7829776 NCBI chr10:38,272,003...38,277,549
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 chr16:84,639,378...84,649,498
Ensembl chr16:77,937,279...77,946,264 		JBrowse link
G Kdr kinase insert domain receptor ISO RGD PMID:15500639 RGD:5684424 NCBI chr14:32,572,031...32,615,204
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 5:135,873,925...135,899,267
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 7:132,940,879...132,948,031
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 3:36,078,432...36,081,851
Ensembl chr 3:15,680,687...15,684,095 		JBrowse link
G Lta lymphotoxin alpha ISO RGD PMID:11390430 RGD:8548819 NCBI chr20:3,622,291...3,625,852
Ensembl chr20:3,618,853...3,620,859 		JBrowse link
G Ltb lymphotoxin beta ISO RGD PMID:11390430 RGD:8548819 NCBI chr20:3,632,209...3,634,054
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 8:12,974,707...12,982,613
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 8:13,008,873...13,018,729
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 chr19:52,205,374...52,220,267
Ensembl chr19:35,295,573...35,310,557 		JBrowse link
G Nqo2 N-ribosyldihydronicotinamide:quinone dehydrogenase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25724174 NCBI chr17:31,114,825...31,144,062
Ensembl chr17:30,909,187...30,938,320 		JBrowse link
G Nrg1 neuregulin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25724174 NCBI chr16:65,954,084...67,007,484
Ensembl chr16:59,250,854...60,296,884 		JBrowse link
G Osm oncostatin M ISO CTD Direct Evidence: marker/mechanism CTD PMID:25724174 NCBI chr14:83,327,202...83,332,073
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:33,740,428...33,851,049
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 chr13:76,062,082...76,072,631
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 chr10:92,937,957...92,956,601
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 chr20:4,708,932...4,712,335
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 2:178,464,095...178,465,223
Ensembl chr 2:176,167,124...176,167,643 		JBrowse link
G Sell selectin L ISO RGD PMID:20182448 RGD:5685684 NCBI chr13:78,950,100...78,969,604
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 chr13:23,788,758...23,795,298
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 chr13:23,755,690...23,766,188
Ensembl chr13:23,236,972...23,246,985 		JBrowse link
G Slc7a11 solute carrier family 7 member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25724174 NCBI chr 2:136,532,912...136,668,560
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 chr11:42,942,742...42,948,399
Ensembl chr11:29,456,558...29,462,249 		JBrowse link
G Sod3 superoxide dismutase 3 ISO CTD Direct Evidence: therapeutic CTD PMID:17392825 NCBI chr14:62,822,865...62,828,602
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 5:62,052,042...62,055,639
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 5:85,161,247...85,174,882
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:30,708,714...30,733,104
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 9:2,031,011...2,033,345
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 5:77,507,455...77,519,685
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 7:22,717,620...22,802,553
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 9:96,249,143...96,256,264
Ensembl chr 9:88,713,184...88,808,465 		JBrowse link
G Ugt1a6 UDP glucuronosyltransferase family 1 member A6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25724174 NCBI chr 9:96,195,018...96,256,264
Ensembl chr 9:88,713,184...88,808,465 		JBrowse link
G Vegfa vascular endothelial growth factor A ISO CTD Direct Evidence: marker/mechanism CTD PMID:25724174 NCBI chr 9:22,452,854...22,468,194
Ensembl chr 9:14,955,300...14,970,641 		JBrowse link
G Xrcc1 X-ray repair cross complementing 1 susceptibility ISO associated with nasopharynx carcinoma;DNA:SNP:cds: p.R399Q (human) RGD PMID:23375119 RGD:150539032 NCBI chr 1:89,268,721...89,296,619
Ensembl chr 1:80,141,207...80,168,701 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: DE SANCTIS-CACCHIONE SYNDROME		 CTD
ClinVar
OMIM		 PMID:887325 PMID:1339317 PMID:7063265 PMID:9150142 PMID:9443879 More... NCBI chr16:7,771,311...7,841,895
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 chr12:27,604,983...27,648,413
Ensembl chr12:21,968,544...22,011,928 		JBrowse link
G Lta lymphotoxin alpha ISO DNA:polymorphism RGD PMID:7914110 RGD:8548777 NCBI chr20:3,622,291...3,625,852
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 chr20:3,626,685...3,629,303
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 9:22,452,854...22,468,194
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 4:151,203,948...151,251,126
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 8:55,423,945...55,425,729
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 1:88,457,397...88,462,365
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 8:55,428,172...55,430,352
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 3:116,619,633...116,670,212
Ensembl chr 3:96,165,042...96,215,615 		JBrowse link
G C4b complement C4B ISO CTD Direct Evidence: marker/mechanism CTD PMID:21055120 NCBI chr20:4,201,979...4,216,292
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 8:66,991,940...66,998,014
Ensembl chr 8:58,096,077...58,102,125 		JBrowse link
G Cyp2c6 cytochrome P450, family 2, subfamily C, polypeptide 6 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 1:247,879,058...247,916,804
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 1:205,269,967...205,280,365
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 chr13:88,218,427...88,224,723
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 7:55,789,180...55,793,216
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 9:30,640,844...30,644,331
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 8:59,802,072...59,829,275
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 2:121,932,968...121,937,672
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 chr10:38,272,003...38,277,549
Ensembl chr10:37,771,203...37,776,750 		JBrowse link
G Kng1 kininogen 1 ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:1371395 PMID:3034372 NCBI chr11:91,317,354...91,340,148
Ensembl chr11:77,812,752...77,835,555 		JBrowse link
G Mpo myeloperoxidase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18204966 NCBI chr10:73,092,124...73,102,057
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 5:163,748,346...163,768,141
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 1:212,354,336...212,364,815
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 chr20:4,577,057...4,581,650
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 chr20:4,598,475...4,604,118
Ensembl chr20:4,596,559...4,607,597 		JBrowse link
G RT1-Hb-ps1 RT1 class II, locus Hb, pseudogene 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16502481 NCBI chr20:4,777,494...4,781,486
Ensembl chr20:4,774,650...4,780,618 		JBrowse link
G Tac1 tachykinin, precursor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:1371395 NCBI chr 4:36,645,344...36,653,548
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 chr20:3,626,685...3,629,303
Ensembl chr20:3,622,011...3,624,629 		JBrowse link
G Ttr transthyretin ISO CTD Direct Evidence: marker/mechanism CTD PMID:21055120 NCBI chr18:12,216,684...12,225,972
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 5:154,417,086...154,419,933
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 5:154,402,276...154,407,827
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 5:154,410,845...154,414,208
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 chr13:53,946,298...53,961,282
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 chr13:87,694,062...87,695,978
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 chr20:3,853,496...3,860,223
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 3:137,030,200...137,036,581
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 3:27,509,836...27,525,738
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 3:167,373,786...167,400,941
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 9:1,034,691...1,036,937
Ensembl chr 9:947,516...949,813 		JBrowse link
G Orm1 orosomucoid 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34142820 NCBI chr 5:81,788,509...81,791,661
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 4:160,042,900...160,177,757
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 chr18:28,609,558...28,611,409
Ensembl chr18:28,335,340...28,337,261 		JBrowse link
G Cd80 Cd80 molecule ISO DNA:SNP RGD PMID:22192168 RGD:6893665 NCBI chr11:75,760,073...75,798,978
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 1:232,075,468...232,268,830
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:3163778 PMID:16444271 PMID:16550169 PMID:16815158 PMID:17030239 More... NCBI chr 2:178,884,793...178,912,986 JBrowse link
G Havcr2 hepatitis A virus cellular receptor 2 ISO RGD PMID:16159638 RGD:5128852 NCBI chr10:31,383,801...31,415,334
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 1:16,152,811...16,171,439
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 chr10:38,290,926...38,293,483
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 8:59,802,072...59,829,275
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 1:189,545,739...189,570,639
Ensembl chr 1:180,115,120...180,139,980 		JBrowse link
G Plau plasminogen activator, urokinase ISO RGD PMID:19416247 RGD:6483821 NCBI chr15:3,505,485...3,511,987
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 9:56,964,617...57,080,523
Ensembl chr 9:49,419,340...49,588,540 		JBrowse link
G Xdh xanthine dehydrogenase ISO ClinVar Annotator: match by term: Eczema ClinVar PMID:25741868 PMID:28492532 PMID:30755392 NCBI chr 6:27,282,319...27,344,022
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 chr12:26,745,972...26,750,924
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 Col7a1 collagen type VII alpha 1 chain ISO ClinVar Annotator: match by term: Epidermolysis bullosa ClinVar PMID:10504458 PMID:16971478 PMID:25741868 PMID:28492532 NCBI chr 8:118,483,364...118,515,736
Ensembl chr 8:109,604,861...109,637,252 		JBrowse link
G Exph5 exophilin 5 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:62,595,116...62,671,575
Ensembl chr 8:53,698,852...53,773,169 		JBrowse link
G Itga6 integrin subunit alpha 6 ISO ClinVar Annotator: match by term: Epidermolysis bullosa ClinVar PMID:14675179 PMID:25741868 NCBI chr 3:77,012,168...77,097,076
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:18348258 NCBI chr10:101,705,592...101,741,933
Ensembl chr10:101,206,665...101,243,012 		JBrowse link
G Krt5 keratin 5 ISO ClinVar Annotator: match by term: Epidermolysis bullosa ClinVar PMID:25741868 NCBI chr 7:132,846,132...132,851,861
Ensembl chr 7:132,846,136...132,851,850 		JBrowse link
G Lamb3 laminin subunit beta 3 ISO ClinVar Annotator: match by term: Epidermolysis bullosa ClinVar PMID:25741868 NCBI chr13:107,362,514...107,404,081
Ensembl chr13:104,833,873...104,875,405 		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: EPIDERMOLYSIS BULLOSA DYSTROPHICA, GENERALIZED SEVERE, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Epidermolysis bullosa dystrophica
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM
RGD		 PMID:2425097 PMID:5910871 PMID:7577595 PMID:7695699 PMID:7833933 More... RGD:1600946 NCBI chr 8:118,483,364...118,515,736
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 chr14:86,270,208...86,277,944
Ensembl chr14:82,056,347...82,064,083 		JBrowse link
G Mir711 microRNA 711 ISO ClinVar Annotator: match by term: Epidermolysis bullosa dystrophica ClinVar PMID:25741868 PMID:28492532 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)
ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA DYSTROPHICA, GENERALIZED SEVERE, AUTOSOMAL RECESSIVE		 ClinVar
RGD		 PMID:25741868 PMID:28492532 PMID:18030675 RGD:8549728 NCBI chr 8:12,943,453...12,963,966
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 term: Epidermolysis bullosa dystrophica, autosomal recessive, localisata variant ClinVar PMID:7695699 PMID:8218237 PMID:8755915 PMID:9536098 PMID:9804332 More... NCBI chr 8:118,483,364...118,515,736
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: DYSTROPHIC EPIDERMOLYSIS BULLOSA PRURIGINOSA | ClinVar Annotator: match by term: Epidermolysis bullosa pruriginosa | ClinVar Annotator: match by term: Epidermolysis bullosa pruriginosa, autosomal dominant | ClinVar Annotator: match by term: Epidermolysis bullosa pruriginosa, autosomal recessive
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:7695699 PMID:7833933 PMID:8088783 PMID:8218237 PMID:8618004 More... NCBI chr 8:118,483,364...118,515,736
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 Itgb4 integrin subunit beta 4 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Cockayne-Touraine type ClinVar PMID:25741868 PMID:28492532 NCBI chr10:101,705,592...101,741,933
Ensembl chr10:101,206,665...101,243,012 		JBrowse link
G Krt14 keratin 14 susceptibility ISO
ISS		 DNA:point mutations
ClinVar Annotator: match by term: Epidermolysis bullosa simplex | ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Cockayne-Touraine type | ClinVar Annotator: match by term: Epidermolysis bullosa simplex, autosomal recessive
OMIM:601001 | OMIM:615425
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
RGD		 PMID:1717157 PMID:7682883 PMID:8601736 PMID:10583131 PMID:10733662 More... RGD:1600173 NCBI chr10:85,137,786...85,142,054
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 | ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Cockayne-Touraine type
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:421361 PMID:1049409 PMID:1718160 PMID:2476664 PMID:6457621 More... RGD:1600195 NCBI chr 7:132,846,132...132,851,861
Ensembl chr 7:132,846,136...132,851,850 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO RGD PMID:23894602 RGD:13204851 NCBI chr 3:174,103,474...174,111,434
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:28492532 PMID:8894687 RGD:1599911 NCBI chr 7:109,768,447...109,829,798
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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX 2E, WITH MIGRATORY CIRCINATE ERYTHEMA | ClinVar Annotator: match by term: Epidermolysis bullosa simplex with migratory circinate erythema		 OMIM
CTD
ClinVar		 PMID:7520042 PMID:8807337 PMID:9036937 PMID:12925204 PMID:15324323 More... NCBI chr 7:132,846,132...132,851,861
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: DST-related condition | ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX 3, LOCALIZED OR GENERALIZED INTERMEDIATE, WITH BP230 DEFICIENCY | ClinVar Annotator: match by term: Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency | ClinVar Annotator: match by term: Epidermolysis bullosa simplex, autosomal recessive 2 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:20164846 PMID:22113475 PMID:22522446 More... NCBI chr 9:43,631,716...44,025,535
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: EXPH5-related condition | ClinVar Annotator: match by term: Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive OMIM
ClinVar		 PMID:23176819 PMID:24005056 PMID:24443915 PMID:25741868 PMID:26211931 More... NCBI chr 8:62,595,116...62,671,575
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 5C, WITH PYLORIC ATRESIA | ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5C, with pyloric atresia | ClinVar Annotator: match by term: Epidermolysis bullosa simplex with pyloric atresia
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:11851880 PMID:14675180 PMID:15206692 PMID:15654962 More... NCBI chr 7:109,768,447...109,829,798
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 PMID:25741868 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 1:16,904,572...16,937,106
Ensembl chr 1:15,070,894...15,148,832 		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 PMID:28492532 NCBI chr 2:137,602,784...137,740,785
Ensembl chr 2:137,602,784...137,740,785 		JBrowse link
G Gpr33-ps1 G protein-coupled receptor 33, pseudogene 1 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy ClinVar NCBI chr 6:75,209,776...75,210,781
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 PMID:25741868 NCBI chr 2:181,650,772...181,663,633 JBrowse link
G Ids iduronate 2-sulfatase ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy ClinVar PMID:28492532 NCBI chr  X:149,025,976...149,046,641
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:9536098 PMID:11851880 PMID:15206692 PMID:15659326 PMID:15810881 More... NCBI chr 7:109,768,447...109,829,798
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 chr15:42,435,803...42,447,165
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
Ensembl chr 7:108,257,160...108,262,513 		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: CD151-related condition | ClinVar Annotator: match by term: Epidermolysis bullosa simplex 7, with nephropathy and deafness
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:15265795 PMID:17576681 PMID:25741868 PMID:25741871 More... NCBI chr 1:205,994,300...205,998,307
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 ISS
ISO		 OMIM:131760
ClinVar Annotator: match by term: Epidermolysis bullosa simplex Dowling-Meara type		 MouseDO
ClinVar		 PMID:1717157 PMID:9804355 PMID:10583131 PMID:10730767 PMID:10733662 More... NCBI chr10:85,137,786...85,142,054
Ensembl chr10:85,066,802...85,171,799 		JBrowse link
G Krt5 keratin 5 ISS
ISO		 OMIM:131760
ClinVar Annotator: match by term: Epidermolysis bullosa herpetiformis, Dowling-Meara | ClinVar Annotator: match by term: Epidermolysis bullosa simplex Dowling-Meara type		 MouseDO
ClinVar		 PMID:7520042 PMID:8807337 PMID:9036937 PMID:16098032 PMID:16601668 More... NCBI chr 7:132,846,132...132,851,861
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 Klhl24 kelch-like family member 24 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Koebner type | ClinVar Annotator: match by term: Generalized EBS ClinVar PMID:25741868 PMID:27798626 PMID:27889062 PMID:28492532 PMID:29779254 More... NCBI chr11:94,348,024...94,382,085
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 | ClinVar Annotator: match by term: Generalized EBS ClinVar PMID:1703046 PMID:1717157 PMID:1720261 PMID:2365356 PMID:7682883 More... NCBI chr10:85,137,786...85,142,054
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 Annotator: match by term: Generalized EBS ClinVar PMID:7520042 PMID:8807337 PMID:20199538 PMID:25741868 PMID:28492532 NCBI chr 7:132,846,132...132,851,861
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 Itgb4 integrin subunit beta 4 ISO ClinVar Annotator: match by term: Localized epidermolysis bullosa simplex ClinVar PMID:25741868 PMID:28492532 NCBI chr10:101,705,592...101,741,933
Ensembl chr10:101,206,665...101,243,012 		JBrowse link
G Krt14 keratin 14 ISO ClinVar Annotator: match by term: Localized epidermolysis bullosa simplex ClinVar PMID:25741868 PMID:28492532 NCBI chr10:85,137,786...85,142,054
Ensembl chr10:85,066,802...85,171,799 		JBrowse link
G Krt5 keratin 5 ISO ClinVar Annotator: match by term: Epidermolysis Bullosa Simplex, Weber-Cockayne Type | ClinVar Annotator: match by term: Localized epidermolysis bullosa simplex ClinVar PMID:7520042 PMID:7537780 PMID:7688477 PMID:8807337 PMID:9036937 More... NCBI chr 7:132,846,132...132,851,861
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
ISS		 ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX 5A, OGNA TYPE | ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Ogna type
OMIM:131950
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:9536098 PMID:11851880 PMID:15206692 PMID:15810881 PMID:17576681 More... NCBI chr 7:109,768,447...109,829,798
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 2F, WITH MOTTLED PIGMENTATION | ClinVar Annotator: match by term: Epidermolysis bullosa simplex with mottled pigmentation | ClinVar Annotator: match by term: Speckled hyperpigmentation, palmo-plantar punctate keratoses and childhood blistering
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:421361 PMID:1049409 PMID:2476664 PMID:6457621 PMID:7520042 More... NCBI chr 7:132,846,132...132,851,861
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 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... 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 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:108,172,062...108,195,875
Ensembl chr 7:108,172,066...108,195,931 		JBrowse link
G Ccdc166 coiled-coil domain containing 166 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:107,693,572...107,695,375
Ensembl chr 7:107,693,574...107,695,375 		JBrowse link
G Cpsf1 cleavage and polyadenylation specific factor 1 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:108,319,429...108,330,018
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 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:109,947,750...109,950,142
Ensembl chr 7:108,067,115...108,069,479 		JBrowse link
G Cyp11b2 cytochrome P450, family 11, subfamily b, polypeptide 2 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:28492532 NCBI chr 7:108,719,349...108,726,024
Ensembl chr 7:106,838,590...106,845,004 		JBrowse link
G Cyp11b3 cytochrome P450, family 11, subfamily b, polypeptide 3 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:28492532 NCBI chr 7:108,689,319...108,694,808
Ensembl chr 7:106,808,559...106,814,048 		JBrowse link
G Dgat1 diacylglycerol O-acyltransferase 1 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:110,104,514...110,119,091
Ensembl chr 7:108,218,524...108,234,299 		JBrowse link
G Eef1d eukaryotic translation elongation factor 1 delta ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:109,462,645...109,478,021
Ensembl chr 7:107,581,930...107,608,799 		JBrowse link
G Eppk1 epiplakin 1 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:109,697,607...109,718,468
Ensembl chr 7:107,817,693...107,831,159 		JBrowse link
G Exosc4 exosome component 4 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:108,047,831...108,050,573
Ensembl chr 7:108,047,831...108,050,573 		JBrowse link
G Fam83h family with sequence similarity 83, member H ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:107,716,431...107,724,619
Ensembl chr 7:107,716,431...107,728,672 		JBrowse link
G Fbxl6 F-box and leucine-rich repeat protein 6 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... 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 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:110,268,608...110,272,105
Ensembl chr 7:108,387,969...108,390,049 		JBrowse link
G Gfus GDP-L-fucose synthase ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:109,492,808...109,497,719
Ensembl chr 7:107,612,094...107,616,948 		JBrowse link
G Gli4 GLI family zinc finger 4 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:107,325,584...107,330,911
Ensembl chr 7:107,325,607...107,330,907 		JBrowse link
G Gml glycosylphosphatidylinositol anchored molecule like ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:28492532 NCBI chr 7:108,578,386...108,601,738
Ensembl chr 7:106,689,410...106,712,724 		JBrowse link
G Gpaa1 glycosylphosphatidylinositol anchor attachment 1 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:108,051,896...108,055,479
Ensembl chr 7:108,051,861...108,055,484 		JBrowse link
G Gpihbp1 glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:109,166,334...109,169,448
Ensembl chr 7:107,285,654...107,288,702 		JBrowse link
G Gpt glutamic--pyruvic transaminase ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:28492532 NCBI chr 7:110,295,599...110,300,134
Ensembl chr 7:108,416,642...108,419,494 		JBrowse link
G Grina glutamate ionotropic receptor NMDA type subunit associated protein 1 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:109,842,870...109,846,048
Ensembl chr 7:107,962,207...107,965,366 		JBrowse link
G Gsdmd gasdermin D ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:109,423,209...109,427,771
Ensembl chr 7:107,542,083...107,547,055 		JBrowse link
G Hgh1 HGH1 homolog ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... 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 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:110,076,710...110,103,665
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 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:108,380,634...108,388,364
Ensembl chr 7:108,376,011...108,388,484 		JBrowse link
G Ly6d lymphocyte antigen 6 family member D ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:28492532 NCBI chr 7:108,532,207...108,533,943
Ensembl chr 7:106,643,232...106,644,733 		JBrowse link
G Ly6e lymphocyte antigen 6 family member E ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:28492532 NCBI chr 7:108,815,970...108,820,444
Ensembl chr 7:106,935,761...106,939,689 		JBrowse link
G Ly6h lymphocyte antigen 6 family member H ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:28492532 NCBI chr 7:109,139,527...109,142,108
Ensembl chr 7:107,258,779...107,261,454 		JBrowse link
G Lynx1 Ly6/neurotoxin 1 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:28492532 NCBI chr 7:108,521,783...108,527,012
Ensembl chr 7:106,632,797...106,638,023 		JBrowse link
G Lypd2 Ly6/Plaur domain containing 2 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:28492532 NCBI chr 7:106,617,561...106,619,598
Ensembl chr 7:106,617,561...106,619,598 		JBrowse link
G Maf1 MAF1 homolog, negative regulator of RNA polymerase III ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:109,955,876...109,958,909
Ensembl chr 7:108,075,189...108,078,249 		JBrowse link
G Mafa MAF bZIP transcription factor A ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:107,432,292...107,435,084
Ensembl chr 7:107,433,605...107,434,690 		JBrowse link
G Mapk15 mitogen-activated protein kinase 15 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:109,575,619...109,595,339
Ensembl chr 7:107,694,964...107,714,645 		JBrowse link
G Mfsd3 major facilitator superfamily domain containing 3 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:28492532 NCBI chr 7:108,419,644...108,423,469
Ensembl chr 7:108,421,350...108,423,461 		JBrowse link
G Mroh1 maestro heat-like repeat family member 1 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:109,979,344...110,052,800
Ensembl chr 7:108,102,734...108,172,146 		JBrowse link
G Mroh6 maestro heat-like repeat family member 6 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:107,566,212...107,576,469
Ensembl chr 7:107,569,554...107,574,173 		JBrowse link
G Naprt nicotinate phosphoribosyltransferase ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:107,576,645...107,580,102
Ensembl chr 7:107,576,627...107,580,102 		JBrowse link
G Nrbp2 nuclear receptor binding protein 2 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:107,798,642...107,805,225
Ensembl chr 7:107,799,497...107,805,230 		JBrowse link
G Oplah 5-oxoprolinase (ATP-hydrolysing) ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... 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 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:109,829,721...109,839,054
Ensembl chr 7:107,949,043...107,958,304 		JBrowse link
G Plec plectin ISO
ISS		 ClinVar Annotator: match by term: Epidermolysa bullosa simplex and limb girdle muscular dystrophy | ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy | ClinVar Annotator: match by term: Epidermolysis bullosa simplex with muscular dystrophy
OMIM:226670
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:8696340 PMID:8830774 PMID:8894687 PMID:9536098 PMID:9886273 More... NCBI chr 7:109,768,447...109,829,798
Ensembl chr 7:107,887,764...107,945,467 		JBrowse link
G Ppp1r16a protein phosphatase 1, regulatory subunit 16A ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:28492532 NCBI chr 7:108,391,664...108,414,812
Ensembl chr 7:108,391,656...108,419,509 		JBrowse link
G Puf60 poly-U binding splicing factor 60 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:109,663,490...109,674,443
Ensembl chr 7:107,782,770...107,794,531 		JBrowse link
G Pycr3 pyrroline-5-carboxylate reductase 3 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:109,484,263...109,489,554
Ensembl chr 7:107,581,930...107,608,799 		JBrowse link
G Recql4 RecQ like helicase 4 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:28492532 NCBI chr 7:110,304,092...110,311,426
Ensembl chr 7:108,423,455...108,430,619 		JBrowse link
G Rhpn1 rhophilin, Rho GTPase binding protein 1 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy | ClinVar Annotator: match by term: Epidermolysis bullosa simplex with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:107,391,948...107,402,713
Ensembl chr 7:107,391,984...107,402,713 		JBrowse link
G Scrib scribble planar cell polarity protein ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:109,640,034...109,663,354
Ensembl chr 7:107,759,343...107,782,331 		JBrowse link
G Scrt1 scratch family transcriptional repressor 1 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... 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 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:110,056,897...110,059,283
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 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:109,951,336...109,955,552
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 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:110,214,017...110,218,202
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 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:110,126,632...110,146,647
Ensembl chr 7:108,262,612...108,268,034 		JBrowse link
G Slurp1 secreted Ly6/Plaur domain containing 1 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:28492532 NCBI chr 7:106,611,949...106,613,365
Ensembl chr 7:106,611,949...106,613,365 		JBrowse link
G Spatc1 spermatogenesis and centriole associated 1 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:107,980,857...108,007,716
Ensembl chr 7:107,983,796...108,007,479 		JBrowse link
G Tigd5 tigger transposable element derived 5 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:107,596,724...107,599,243
Ensembl chr 7:107,596,724...107,599,243 		JBrowse link
G Tmem249 transmembrane protein 249 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy | ClinVar Annotator: match by term: Epidermolysis bullosa simplex with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:108,256,535...108,259,429
Ensembl chr 7:108,257,160...108,262,513 		JBrowse link
G Tonsl tonsoku-like, DNA repair protein ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:110,226,696...110,241,459
Ensembl chr 7:108,346,047...108,360,750 		JBrowse link
G Top1mt DNA topoisomerase I mitochondrial ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:107,338,092...107,368,125
Ensembl chr 7:107,342,527...107,366,049 		JBrowse link
G Vps28 VPS28 subunit of ESCRT-I ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:110,222,638...110,226,486
Ensembl chr 7:108,341,989...108,345,837 		JBrowse link
G Zc3h3 zinc finger CCCH type containing 3 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:107,440,694...107,525,451
Ensembl chr 7:107,440,694...107,525,451 		JBrowse link
G Zfp41 zinc finger protein 41 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:107,307,303...107,320,164
Ensembl chr 7:107,306,867...107,320,270 		JBrowse link
G Zfp623 zinc finger protein 623 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:107,627,334...107,636,254
Ensembl chr 7:107,627,267...107,636,321 		JBrowse link
G Zfp707 zinc finger protein 707 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:107,679,597...107,686,556
Ensembl chr 7:107,650,217...107,703,459 		JBrowse link
G Zftraf1 zinc finger TRAF type containing 1 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:108,363,989...108,377,428
Ensembl chr 7:108,364,381...108,380,021 		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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:2425097 PMID:5910871 PMID:7695699 PMID:7833933 PMID:8088783 More... NCBI chr 8:118,483,364...118,515,736
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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:2450378 PMID:3198322 PMID:9536098 PMID:10395892 PMID:11063735 More... NCBI chr17:26,829,153...26,877,419
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 3:174,209,113...174,224,592
Ensembl chr 3:153,790,449...153,805,534 		JBrowse link
G Cd40lg CD40 ligand ISO RGD PMID:18050371 RGD:8547765 NCBI chr  X:140,164,341...140,176,057
Ensembl chr  X:135,126,969...135,138,306 		JBrowse link
G Cd8a CD8 subunit alpha susceptibility ISO associated with adult T-cell leukemia;mRNA:increased expression:blood (human) RGD PMID:32433748 RGD:124715447 NCBI chr 4:104,924,116...104,928,353
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 5:164,319,017...164,332,686
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 chr20:4,598,475...4,604,118
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 9:22,452,854...22,468,194
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 9:2,174,412...2,201,339
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 chr20:3,975,271...3,981,138
Ensembl chr20:3,951,474...3,976,505 		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 2:198,338,005...198,346,007
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 chr20:3,622,291...3,625,852
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 chr20:3,314,491...3,322,815 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 chr20:3,626,685...3,629,303
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 7:130,864,764...130,916,757
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 chr18:36,515,347...36,584,038
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 PMID:28492532 PMID:29779254 More... NCBI chr11:94,348,024...94,382,085
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:1717157 PMID:1720261 PMID:2365356 PMID:7682883 More... NCBI chr10:85,137,786...85,142,054
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:7520042 PMID:8807337 PMID:20199538 PMID:25741868 PMID:28492532 NCBI chr 7:132,846,132...132,851,861
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 9:43,631,716...44,025,535
Ensembl chr 9:36,135,284...36,529,615 		JBrowse link
G Krt14 keratin 14 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive		 OMIM
CTD
ClinVar		 PMID:7525407 PMID:7525408 PMID:7526933 PMID:8875963 PMID:10971341 More... NCBI chr10:85,137,786...85,142,054
Ensembl chr10:85,066,802...85,171,799 		JBrowse link
G Krt5 keratin 5 ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX 1D, GENERALIZED, INTERMEDIATE OR SEVERE, AUTOSOMAL RECESSIVE ClinVar PMID:7520042 PMID:8807337 PMID:25741868 PMID:28492532 NCBI chr 7:132,846,132...132,851,861
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 ClinVar Annotator: match by term: Epidermolysis bullosa simplex 2B, generalized intermediate OMIM
ClinVar		 PMID:1718160 PMID:7534039 PMID:7686424 PMID:9740251 PMID:10354017 More... NCBI chr 7:132,846,132...132,851,861
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 ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX 2D, GENERALIZED SEVERE, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Epidermolysis bullosa simplex 2d, generalized, intermediate or severe, autosomal recessive OMIM
ClinVar		 PMID:16465624 PMID:20199538 PMID:25741868 PMID:31302245 PMID:31312705 NCBI chr 7:132,846,132...132,851,861
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 6, generalized, with scarring and hair loss | ClinVar Annotator: match by term: Epidermolysis bullosa simplex, generalized, with scarring and hair loss OMIM
ClinVar		 PMID:25741868 PMID:27798626 PMID:27889062 PMID:28492532 PMID:29779254 More... NCBI chr11:94,348,024...94,382,085
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 ClinVar Annotator: match by term: Epidermolysis bullosa simplex 1A, generalized severe OMIM
ClinVar		 PMID:1703046 PMID:1717157 PMID:1720261 PMID:9804355 PMID:10583131 More... NCBI chr10:85,137,786...85,142,054
Ensembl chr10:85,066,802...85,171,799 		JBrowse link
G Krt5 keratin 5 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 1A, generalized severe ClinVar PMID:7520042 PMID:8807337 PMID:9036937 PMID:10354017 PMID:10730767 More... NCBI chr 7:132,846,132...132,851,861
Ensembl chr 7:132,846,136...132,851,850 		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 ClinVar Annotator: match by term: Epidermolysis bullosa simplex 2A, generalized severe OMIM
ClinVar		 PMID:1372711 PMID:8757772 PMID:9036937 PMID:10234505 PMID:10383750 More... NCBI chr 7:132,846,132...132,851,861
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: ATP2C1-related condition | ClinVar Annotator: match by term: Familial benign pemphigus
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:3978039 PMID:10615129 PMID:10767338 PMID:11450592 PMID:11841554 More... NCBI chr 8:114,913,551...115,034,706
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 chr14:32,572,031...32,615,204
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 term: DSC3-related condition | ClinVar Annotator: match by term: Hypotrichosis and recurrent skin vesicles
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:16199547 PMID:18682494 PMID:19765682 PMID:25741868 PMID:28492532 More... 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 ClinVar Annotator: match by term: Ichthyosis hystrix, Curth Macklin type
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:16417221 PMID:21844476 PMID:22834809 NCBI chr 7:134,855,311...134,860,537
Ensembl chr 7:132,976,620...132,981,844 		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 chr20:3,944,722...3,975,006
Ensembl chr20:3,951,474...3,976,505 		JBrowse link
G Cbr1 carbonyl reductase 1 ISO CTD Direct Evidence: therapeutic CTD PMID:25818598 NCBI chr11:46,346,405...46,348,815
Ensembl chr11:32,908,950...32,911,393
Ensembl chr11:32,908,950...32,911,393
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 chr20:2,933,173...2,934,377
Ensembl chr20:2,928,378...2,929,583 		JBrowse link
G Il4 interleukin 4 IEP RGD PMID:19690449 RGD:2317271 NCBI chr10:38,272,003...38,277,549
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 chr20:4,762,425...4,772,439
Ensembl chr20:4,760,118...4,770,244 		JBrowse link
G RT1-Hb-ps1 RT1 class II, locus Hb, pseudogene 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27258892 NCBI chr20:4,777,494...4,781,486
Ensembl chr20:4,774,650...4,780,618 		JBrowse link
G Stat3 signal transducer and activator of transcription 3 treatment ISO RGD PMID:21511023 RGD:8694305 NCBI chr10:86,311,528...86,363,513
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 chr20:1,658,386...1,671,711
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 chr20:1,676,114...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
ISS		 ClinVar Annotator: match by term: Junctional epidermolysis bullosa MouseDO
ClinVar
RGD		 PMID:7550320 PMID:9199555 PMID:9740252 PMID:10398261 PMID:10577906 More... RGD:1600884 NCBI chr 1:256,472,648...256,518,857
Ensembl chr 1:246,531,367...246,577,632 		JBrowse link
G Galk1 galactokinase 1 ISO ClinVar Annotator: match by term: Junctional epidermolysis bullosa ClinVar PMID:9792864 PMID:11886501 PMID:25741868 NCBI chr10:101,742,067...101,746,244
Ensembl chr10:101,235,994...101,247,337 		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 3:77,012,168...77,097,076
Ensembl chr 3:56,617,268...56,689,428 		JBrowse link
G Itgb4 integrin subunit beta 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Junctional epidermolysis bullosa		 CTD
ClinVar		 PMID:7545057 PMID:9792864 PMID:11886501 PMID:25741868 NCBI chr10:101,705,592...101,741,933
Ensembl chr10:101,206,665...101,243,012 		JBrowse link
G Lama3 laminin subunit alpha 3 ISO
ISS		 ClinVar Annotator: match by term: Junctional epidermolysis bullosa
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
RGD		 PMID:9536098 PMID:10366601 PMID:11810295 PMID:11907499 PMID:12915477 More... RGD:1600080 NCBI chr18:3,797,898...4,033,021
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
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:7550237 PMID:7698759 PMID:7706760 PMID:8824879 PMID:8983017 More... RGD:1600209 NCBI chr13:107,362,514...107,404,081
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
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:9856849 PMID:11231327 PMID:11564184 PMID:11810295 PMID:11907499 More... RGD:1600210 NCBI chr13:67,835,199...67,894,694
Ensembl chr13:65,284,664...65,344,200 		JBrowse link
Junctional Epidermolysis Bullosa 1A, Intermediate 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: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 1A, INTERMEDIATE ClinVar PMID:9583744 PMID:10636730 PMID:11406649 PMID:14614394 PMID:16199547 More... NCBI chr 1:256,472,648...256,518,857
Ensembl chr 1:246,531,367...246,577,632 		JBrowse link
G Lama3 laminin subunit alpha 3 ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 1A, INTERMEDIATE ClinVar PMID:10366601 PMID:11810295 PMID:12915477 PMID:16473856 PMID:17362460 More... NCBI chr18:3,797,898...4,033,021
Ensembl chr18:3,523,133...3,751,353 		JBrowse link
G Lamb3 laminin subunit beta 3 ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 1A, INTERMEDIATE OMIM
ClinVar		 PMID:7550237 PMID:7698759 PMID:7706760 PMID:8824879 PMID:8983017 More... NCBI chr13:107,362,514...107,404,081
Ensembl chr13:104,833,873...104,875,405 		JBrowse link
Junctional Epidermolysis Bullosa 1B, Severe term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lama3 laminin subunit alpha 3 ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 1B, SEVERE ClinVar PMID:9536098 PMID:10366601 PMID:11810295 PMID:12915477 PMID:16473856 More... NCBI chr18:3,797,898...4,033,021
Ensembl chr18:3,523,133...3,751,353 		JBrowse link
G Lamb3 laminin subunit beta 3 ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 1B, SEVERE OMIM
ClinVar		 PMID:7550237 PMID:7698759 PMID:7706760 PMID:8824879 PMID:8983017 More... NCBI chr13:107,362,514...107,404,081
Ensembl chr13:104,833,873...104,875,405 		JBrowse link
G Lamc2 laminin subunit gamma 2 ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 1B, SEVERE ClinVar PMID:11907499 PMID:16199547 PMID:16473856 PMID:25741868 PMID:28492532 NCBI chr13:67,835,199...67,894,694
Ensembl chr13:65,284,664...65,344,200 		JBrowse link
Junctional Epidermolysis Bullosa 2A, Intermediate term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lama3 laminin subunit alpha 3 ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 2A, NON-HERLITZ TYPE | ClinVar Annotator: match by term: Epidermolysis bullosa, junctional 2A, intermediate OMIM
ClinVar		 PMID:10366601 PMID:11810295 PMID:12915477 PMID:16199547 PMID:16473856 More... NCBI chr18:3,797,898...4,033,021
Ensembl chr18:3,523,133...3,751,353 		JBrowse link
Junctional Epidermolysis Bullosa 2B, Severe term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lama3 laminin subunit alpha 3 ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 2B, HERLITZ TYPE | ClinVar Annotator: match by term: Epidermolysis bullosa, junctional 2B, severe OMIM
ClinVar		 PMID:7633458 PMID:8530087 PMID:8586427 PMID:8618022 PMID:8824879 More... NCBI chr18:3,797,898...4,033,021
Ensembl chr18:3,523,133...3,751,353 		JBrowse link
Junctional Epidermolysis Bullosa 2C, Laryngoonychocutaneous term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lama3 laminin subunit alpha 3 ISO ClinVar Annotator: match by term: Laryngo-onycho-cutaneous syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:7633458 PMID:8530087 PMID:8618022 PMID:8824879 PMID:8983017 More... NCBI chr18:3,797,898...4,033,021
Ensembl chr18:3,523,133...3,751,353 		JBrowse link
Junctional Epidermolysis Bullosa 3A, Intermediate term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lamc2 laminin subunit gamma 2 ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 3A, NON-HERLITZ TYPE | ClinVar Annotator: match by term: Epidermolysis bullosa, junctional 3A, intermediate | ClinVar Annotator: match by term: LAMC2-related condition OMIM
ClinVar		 PMID:7849725 PMID:9536098 PMID:9856849 PMID:11564184 PMID:11810295 More... NCBI chr13:67,835,199...67,894,694
Ensembl chr13:65,284,664...65,344,200 		JBrowse link
Junctional Epidermolysis Bullosa 3B, Severe term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lamc2 laminin subunit gamma 2 ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 3B, HERLITZ TYPE | ClinVar Annotator: match by term: Epidermolysis bullosa, junctional 3B, severe OMIM
ClinVar		 PMID:7849725 PMID:8012114 PMID:8012393 PMID:8012394 PMID:8824879 More... NCBI chr13:67,835,199...67,894,694
Ensembl chr13:65,284,664...65,344,200 		JBrowse link
Junctional Epidermolysis Bullosa 4, Intermediate 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: COL17A1-related condition | ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN | ClinVar Annotator: match by term: Epidermolysis bullosa, junctional 4, intermediate OMIM
ClinVar		 PMID:7092249 PMID:7550320 PMID:8618019 PMID:9012408 PMID:9077475 More... NCBI chr 1:256,472,648...256,518,857
Ensembl chr 1:246,531,367...246,577,632 		JBrowse link
Junctional Epidermolysis Bullosa 5A, Intermediate 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, JUNCTIONAL 5A, NON-HERLITZ TYPE | ClinVar Annotator: match by term: Epidermolysis bullosa, junctional 5A, intermediate ClinVar PMID:9536098 PMID:9546354 PMID:9892956 PMID:11328943 PMID:12485428 More... NCBI chr10:101,742,067...101,746,244
Ensembl chr10:101,235,994...101,247,337 		JBrowse link
G Itgb4 integrin subunit beta 4 ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5A, NON-HERLITZ TYPE | ClinVar Annotator: match by term: Epidermolysis bullosa, junctional 5A, intermediate OMIM
ClinVar		 PMID:9536098 PMID:9546354 PMID:9892956 PMID:10792571 PMID:11328943 More... NCBI chr10:101,705,592...101,741,933
Ensembl chr10:101,206,665...101,243,012 		JBrowse link
Junctional Epidermolysis Bullosa 7, with Interstitial Lung Disease and Nephrotic Syndrome 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: Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome | ClinVar Annotator: match by term: ITGA3-related condition | ClinVar Annotator: match by term: Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital OMIM
ClinVar		 PMID:16199547 PMID:22512483 PMID:24088041 PMID:24220332 PMID:25741868 More... NCBI chr10:80,486,998...80,522,548
Ensembl chr10:79,990,161...80,022,118 		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 3:77,012,168...77,097,076
Ensembl chr 3:56,617,268...56,689,428 		JBrowse link
G Lama3 laminin subunit alpha 3 ISO ClinVar Annotator: match by term: Herlitz-Pearson type epidermolysis bullosa | ClinVar Annotator: match by term: Herlitz-type junctional epidermolysis bullosa | ClinVar Annotator: match by term: Junctional epidermolysis bullosa gravis of Herlitz ClinVar PMID:7633458 PMID:8530087 PMID:8618022 PMID:8824879 PMID:8983017 More... NCBI chr18:3,797,898...4,033,021
Ensembl chr18:3,523,133...3,751,353 		JBrowse link
G Lamb3 laminin subunit beta 3 ISS
ISO		 OMIM:226700
ClinVar Annotator: match by term: Herlitz-Pearson type epidermolysis bullosa | ClinVar Annotator: match by term: Herlitz-type junctional epidermolysis bullosa | ClinVar Annotator: match by term: Junctional epidermolysis bullosa gravis of Herlitz		 MouseDO
ClinVar		 PMID:7550237 PMID:7698759 PMID:7706760 PMID:8362910 PMID:8541876 More... NCBI chr13:107,362,514...107,404,081
Ensembl chr13:104,833,873...104,875,405 		JBrowse link
G Lamc2 laminin subunit gamma 2 ISS
ISO		 OMIM:226700
ClinVar Annotator: match by term: Herlitz-Pearson type epidermolysis bullosa | ClinVar Annotator: match by term: Herlitz-type junctional epidermolysis bullosa | ClinVar Annotator: match by term: Junctional epidermolysis bullosa gravis of Herlitz		 MouseDO
ClinVar		 PMID:7849725 PMID:8012114 PMID:8012393 PMID:8012394 PMID:8824879 More... NCBI chr13:67,835,199...67,894,694
Ensembl chr13:65,284,664...65,344,200 		JBrowse link
G Slc2a1 solute carrier family 2 member 1 ISO ClinVar Annotator: match by term: Herlitz-type junctional epidermolysis bullosa ClinVar PMID:20129935 PMID:25564316 PMID:25741868 PMID:25982116 PMID:26537434 More... NCBI chr 5:138,002,522...138,030,742
Ensembl chr 5:132,717,196...132,745,416 		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
ISS		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Junctional epidermolysis bullosa, non-Herlitz type
OMIM:226650		 CTD
ClinVar
MouseDO		 PMID:9077475 PMID:9204958 PMID:9536098 PMID:9583744 PMID:10636730 More... NCBI chr 1:256,472,648...256,518,857
Ensembl chr 1:246,531,367...246,577,632 		JBrowse link
G Galk1 galactokinase 1 ISO ClinVar Annotator: match by term: Junctional epidermolysis bullosa, non-Herlitz type ClinVar PMID:25741868 PMID:28492532 NCBI chr10:101,742,067...101,746,244
Ensembl chr10:101,235,994...101,247,337 		JBrowse link
G Itgb4 integrin subunit beta 4 ISO
ISS		 ClinVar Annotator: match by term: Junctional epidermolysis bullosa, non-Herlitz type
OMIM:226650		 ClinVar
MouseDO		 PMID:25741868 PMID:28492532 NCBI chr10:101,705,592...101,741,933
Ensembl chr10:101,206,665...101,243,012 		JBrowse link
G Lama3 laminin subunit alpha 3 ISS
ISO		 OMIM:226650
ClinVar Annotator: match by term: Epidermolysis bullosa junctionalis, disentis type | ClinVar Annotator: match by term: Junctional epidermolysis bullosa, non-Herlitz type		 MouseDO
ClinVar		 PMID:10366601 PMID:11810295 PMID:12915477 PMID:16473856 PMID:17362460 More... NCBI chr18:3,797,898...4,033,021
Ensembl chr18:3,523,133...3,751,353 		JBrowse link
G Lamb3 laminin subunit beta 3 ISO
ISS		 ClinVar Annotator: match by term: Junctional epidermolysis bullosa, non-Herlitz type
ClinVar Annotator: match by term: Epidermolysis bullosa junctionalis, disentis type | ClinVar Annotator: match by term: Junctional epidermolysis bullosa, non-Herlitz type
OMIM:226650
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD		 PMID:7550237 PMID:7698759 PMID:7706760 PMID:8824879 PMID:8983017 More... NCBI chr13:107,362,514...107,404,081
Ensembl chr13:104,833,873...104,875,405 		JBrowse link
G Lamc2 laminin subunit gamma 2 ISO
ISS		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Junctional epidermolysis bullosa, non-Herlitz type
OMIM:226650		 CTD
ClinVar
MouseDO		 PMID:11564184 PMID:24550734 PMID:25741868 PMID:27375110 PMID:28492532 More... NCBI chr13:67,835,199...67,894,694
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: Junctional epidermolysis bullosa with pyloric atresia
ClinVar Annotator: match by term: ITGB4-related condition | ClinVar Annotator: match by term: Junctional epidermolysis bullosa with pyloric atresia		 ClinVar PMID:9536098 PMID:9792864 PMID:9892956 PMID:10484780 PMID:11328943 More... NCBI chr10:101,742,067...101,746,244
Ensembl chr10:101,235,994...101,247,337 		JBrowse link
G Itga6 integrin subunit alpha 6 ISO ClinVar Annotator: match by term: Epidermolysis bullosa, junctional 6, with pyloric atresia | ClinVar Annotator: match by term: ITGA6-related condition | ClinVar Annotator: match by term: Junctional epidermolysis bullosa with pyloric atresia OMIM
ClinVar		 PMID:9158140 PMID:9185503 PMID:9804362 PMID:14675179 PMID:23496044 More... NCBI chr 3:77,012,168...77,097,076
Ensembl chr 3:56,617,268...56,689,428 		JBrowse link
G Itgb4 integrin subunit beta 4 ISO
ISS		 ClinVar Annotator: match by term: ITGB4-related condition | ClinVar Annotator: match by term: Junctional epidermolysis bullosa with pyloric atresia
OMIM:226730
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:6177243 PMID:7545057 PMID:9422533 PMID:9536098 PMID:9546354 More... NCBI chr10:101,705,592...101,741,933
Ensembl chr10:101,206,665...101,243,012 		JBrowse link
G Myo6 myosin VI ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5B, WITH PYLORIC ATRESIA ClinVar PMID:12687499 PMID:18348273 PMID:23767834 PMID:25080041 PMID:25741868 More... NCBI chr 8:89,967,351...90,122,219
Ensembl chr 8:81,087,139...81,239,292 		JBrowse link
G Plec plectin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5B, WITH PYLORIC ATRESIA | ClinVar Annotator: match by term: Junctional epidermolysis bullosa with pyloric atresia		 CTD
ClinVar		 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 7:109,768,447...109,829,798
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
ISS		 ClinVar Annotator: match by term: FERMT1-related condition | ClinVar Annotator: match by term: Kindler syndrome
OMIM:173650
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:12668616 PMID:12789646 PMID:14507403 PMID:14962093 PMID:15313809 More... NCBI chr 3:140,624,434...140,666,419
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 chr10:80,380,458...80,397,461
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 Galk1 galactokinase 1 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 1C, localized ClinVar PMID:25741868 PMID:28492532 NCBI chr10:101,742,067...101,746,244
Ensembl chr10:101,235,994...101,247,337 		JBrowse link
G Itgb4 integrin subunit beta 4 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 1C, localized ClinVar PMID:11328943 PMID:16473856 PMID:25741868 PMID:28492532 NCBI chr10:101,705,592...101,741,933
Ensembl chr10:101,206,665...101,243,012 		JBrowse link
G Krt14 keratin 14 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 1C, localized OMIM
ClinVar		 PMID:7506606 PMID:7561171 PMID:9284105 PMID:10733662 PMID:11710919 More... NCBI chr10:85,137,786...85,142,054
Ensembl chr10:85,066,802...85,171,799 		JBrowse link
G Krt5 keratin 5 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 1C, localized ClinVar PMID:7506097 PMID:7520042 PMID:7537780 PMID:7688477 PMID:8807337 More... NCBI chr 7:132,846,132...132,851,861
Ensembl chr 7:132,846,136...132,851,850 		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 ClinVar Annotator: match by term: Epidermolysis bullosa simplex 2C, Weber-Cockayne type | ClinVar Annotator: match by term: Epidermolysis bullosa simplex 2C, localized | ClinVar Annotator: match by term: Epidermolysis bullosa simplex 2C, localized, modifier of OMIM
ClinVar		 PMID:7520042 PMID:7537780 PMID:7688477 PMID:8807337 PMID:11973334 More... NCBI chr 7:132,846,132...132,851,861
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: MSMO1-related condition | ClinVar Annotator: match by term: Microcephaly, congenital cataract, and psoriasiform dermatitis OMIM
ClinVar		 PMID:21285510 PMID:24144731 PMID:25741868 PMID:28492532 NCBI chr16:29,747,113...29,764,360
Ensembl chr16:24,980,697...24,998,016 		JBrowse link
Nakajo Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Psmb8 proteasome 20S subunit beta 8 ISO ClinVar Annotator: match by term: Nodular erythema digital changes ClinVar PMID:20159315 PMID:20534754 PMID:21129723 PMID:21953331 PMID:25741868 More... NCBI chr20:4,654,068...4,657,049
Ensembl chr20:4,652,159...4,655,283 		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 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22010916 PMID:25640679 More... NCBI chr 6:46,601,583...46,663,690
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:16199547 PMID:17576681 PMID:22010916 PMID:25741868 More... NCBI chr 6:46,594,177...46,601,394
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 OMIM
ClinVar		 PMID:7630400 PMID:11423618 PMID:15272417 PMID:15728811 PMID:15737014 More... NCBI chr14:95,378,626...95,551,358
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 chr12:40,610,244...40,643,220
Ensembl chr12:34,901,219...34,982,521 		JBrowse link
G Bdkrb2 bradykinin receptor B2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30685357 NCBI chr 6:130,237,055...130,267,205
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:17,580,380...17,601,181
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 chr13:45,024,921...45,029,586
Ensembl chr13:42,472,839...42,477,313 		JBrowse link
G Il13 interleukin 13 ISO RGD PMID:19254288 RGD:8549579 NCBI chr10:38,290,926...38,293,483
Ensembl chr10:37,790,130...37,792,737 		JBrowse link
G Kng1 kininogen 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30685357 NCBI chr11:91,317,354...91,340,148
Ensembl chr11:77,812,752...77,835,555 		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 chr16:26,984,882...27,005,194
Ensembl chr16:22,208,194...22,238,520 		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 chr16:26,974,874...27,005,191
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 chr20:4,708,932...4,712,335
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 Arid3b AT-rich interaction domain 3B ISO ClinVar Annotator: match by term: PAPA SYNDROME ClinVar PMID:28492532 NCBI chr 8:58,193,268...58,240,901
Ensembl chr 8:58,193,418...58,238,318 		JBrowse link
G C8h15orf39 similar to human chromosome 15 open reading frame 39 ISO ClinVar Annotator: match by term: PAPA SYNDROME ClinVar PMID:28492532 NCBI chr 8:57,646,324...57,655,896
Ensembl chr 8:57,645,756...57,655,941 		JBrowse link
G Ccdc33 coiled-coil domain containing 33 ISO ClinVar Annotator: match by term: PAPA SYNDROME ClinVar PMID:28492532 NCBI chr 8:58,434,798...58,534,338
Ensembl chr 8:58,435,661...58,534,370 		JBrowse link
G Cimap1c ciliary microtubule associated protein 1C ISO ClinVar Annotator: match by term: PAPA SYNDROME ClinVar PMID:28492532 NCBI chr 8:57,248,746...57,281,084
Ensembl chr 8:57,248,746...57,281,004 		JBrowse link
G Clk3 CDC-like kinase 3 ISO ClinVar Annotator: match by term: PAPA SYNDROME ClinVar PMID:28492532 NCBI chr 8:58,152,155...58,167,196
Ensembl chr 8:58,152,155...58,168,181 		JBrowse link
G Commd4 COMM domain containing 4 ISO ClinVar Annotator: match by term: PAPA SYNDROME ClinVar PMID:28492532 NCBI chr 8:57,566,236...57,569,701
Ensembl chr 8:57,566,236...57,569,760 		JBrowse link
G Cox5a cytochrome c oxidase subunit 5A ISO ClinVar Annotator: match by term: PAPA SYNDROME ClinVar PMID:28492532 NCBI chr 8:66,818,284...66,829,691
Ensembl chr 8:57,922,290...57,933,781 		JBrowse link
G Cplx3 complexin 3 ISO ClinVar Annotator: match by term: PAPA SYNDROME ClinVar PMID:28492532 NCBI chr 8:66,899,438...66,906,200
Ensembl chr 8:58,003,535...58,010,297 		JBrowse link
G Csk C-terminal Src kinase ISO ClinVar Annotator: match by term: PAPA SYNDROME ClinVar PMID:28492532 NCBI chr 8:66,925,650...66,944,861
Ensembl chr 8:58,029,749...58,048,292 		JBrowse link
G Cspg4 chondroitin sulfate proteoglycan 4 ISO ClinVar Annotator: match by term: PAPA SYNDROME ClinVar PMID:28492532 NCBI chr 8:66,160,942...66,195,987
Ensembl chr 8:57,264,962...57,300,010 		JBrowse link
G Cyp11a1 cytochrome P450, family 11, subfamily a, polypeptide 1 ISO ClinVar Annotator: match by term: PAPA SYNDROME ClinVar PMID:28492532 NCBI chr 8:67,318,665...67,330,196
Ensembl chr 8:58,404,669...58,434,338 		JBrowse link
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 ISO ClinVar Annotator: match by term: PAPA SYNDROME ClinVar PMID:28492532 NCBI chr 8:66,991,940...66,998,014
Ensembl chr 8:58,096,077...58,102,125 		JBrowse link
G Cyp1a2 cytochrome P450, family 1, subfamily a, polypeptide 2 ISO ClinVar Annotator: match by term: PAPA SYNDROME ClinVar PMID:28492532 NCBI chr 8:66,971,261...66,978,149
Ensembl chr 8:58,075,367...58,082,312 		JBrowse link
G Edc3 enhancer of mRNA decapping 3 ISO ClinVar Annotator: match by term: PAPA SYNDROME ClinVar PMID:28492532 NCBI chr 8:58,106,147...58,151,685
Ensembl chr 8:58,106,175...58,151,671 		JBrowse link
G Etfa electron transfer flavoprotein subunit alpha ISO ClinVar Annotator: match by term: PAPA SYNDROME ClinVar PMID:28492532 NCBI chr 8:64,731,192...64,787,965
Ensembl chr 8:55,835,134...55,891,969 		JBrowse link
G Fam219b family with sequence similarity 219, member B ISO ClinVar Annotator: match by term: PAPA SYNDROME ClinVar PMID:28492532 NCBI chr 8:57,941,327...57,946,916
Ensembl chr 8:57,941,294...57,946,906 		JBrowse link
G Fbxo22 F-box protein 22 ISO ClinVar Annotator: match by term: PAPA SYNDROME ClinVar PMID:28492532 NCBI chr 8:64,476,034...64,492,063
Ensembl chr 8:55,579,891...55,596,148 		JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:27106250 NCBI chr 3:137,030,200...137,036,581
Ensembl chr 3:116,577,010...116,583,415 		JBrowse link
G Imp3 IMP U3 small nucleolar ribonucleoprotein 3 ISO ClinVar Annotator: match by term: PAPA SYNDROME ClinVar PMID:28492532 NCBI chr 8:57,339,528...57,340,416
Ensembl chr 8:57,339,496...57,340,414 		JBrowse link
G Isl2 ISL LIM homeobox 2 ISO ClinVar Annotator: match by term: PAPA SYNDROME ClinVar PMID:28492532 NCBI chr 8:55,923,805...55,928,790
Ensembl chr 8:55,923,805...55,928,790 		JBrowse link
G Islr immunoglobulin superfamily containing leucine-rich repeat ISO ClinVar Annotator: match by term: PAPA SYNDROME ClinVar PMID:28492532 NCBI chr 8:58,571,155...58,574,128
Ensembl chr 8:58,570,777...58,574,130 		JBrowse link
G Islr2 immunoglobulin superfamily containing leucine-rich repeat 2 ISO ClinVar Annotator: match by term: PAPA SYNDROME ClinVar PMID:28492532 NCBI chr 8:58,608,165...58,616,246
Ensembl chr 8:58,608,709...58,614,650 		JBrowse link
G Lman1l lectin, mannose-binding, 1 like ISO ClinVar Annotator: match by term: PAPA SYNDROME ClinVar PMID:28492532 NCBI chr 8:58,010,839...58,029,599
Ensembl chr 8:58,010,839...58,023,681 		JBrowse link
G Loxl1 lysyl oxidase-like 1 ISO ClinVar Annotator: match by term: PAPA SYNDROME ClinVar PMID:28492532 NCBI chr 8:67,587,636...67,612,224
Ensembl chr 8:58,692,593...58,716,356 		JBrowse link
G Man2c1 mannosidase, alpha, class 2C, member 1 ISO ClinVar Annotator: match by term: PAPA SYNDROME ClinVar PMID:28492532 NCBI chr 8:57,537,879...57,549,691
Ensembl chr 8:57,537,321...57,549,690 		JBrowse link
G Mpi mannose phosphate isomerase ISO ClinVar Annotator: match by term: PAPA SYNDROME ClinVar PMID:28492532 NCBI chr 8:66,843,802...66,852,108
Ensembl chr 8:57,947,893...57,956,150 		JBrowse link
G Neil1 nei-like DNA glycosylase 1 ISO ClinVar Annotator: match by term: PAPA SYNDROME ClinVar PMID:28492532 NCBI chr 8:66,446,106...66,452,844
Ensembl chr 8:57,550,147...57,556,258 		JBrowse link
G Nrg4 neuregulin 4 ISO ClinVar Annotator: match by term: PAPA SYNDROME ClinVar PMID:28492532 NCBI chr 8:64,483,559...64,555,671
Ensembl chr 8:55,592,893...55,677,483 		JBrowse link
G Pml PML nuclear body scaffold ISO ClinVar Annotator: match by term: PAPA SYNDROME ClinVar PMID:28492532 NCBI chr 8:67,523,164...67,557,801
Ensembl chr 8:58,628,837...58,658,971 		JBrowse link
G Ppcdc phosphopantothenoylcysteine decarboxylase ISO ClinVar Annotator: match by term: PAPA SYNDROME ClinVar PMID:28492532 NCBI chr 8:66,711,115...66,738,782
Ensembl chr 8:57,815,195...58,000,570 		JBrowse link
G Pstpip1 proline-serine-threonine phosphatase-interacting protein 1 ISO ClinVar Annotator: match by term: Familial recurrent arthritis | ClinVar Annotator: match by term: PAPA SYNDROME | ClinVar Annotator: match by term: Pyogenic arthritis, pyoderma gangrenosum, and severe cystic acne
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9262226 PMID:9536098 PMID:11971877 PMID:14595024 PMID:15580218 More... NCBI chr 8:65,395,328...65,434,616
Ensembl chr 8:56,499,590...56,538,580 		JBrowse link
G Ptpn9 protein tyrosine phosphatase, non-receptor type 9 ISO ClinVar Annotator: match by term: PAPA SYNDROME ClinVar PMID:28492532 NCBI chr 8:57,391,290...57,472,352
Ensembl chr 8:57,391,259...57,470,952 		JBrowse link
G Rcn2 reticulocalbin 2 ISO ClinVar Annotator: match by term: PAPA SYNDROME ClinVar PMID:28492532 NCBI chr 8:56,449,206...56,466,253
Ensembl chr 8:56,449,206...56,466,251 		JBrowse link
G Rpp25 ribonuclease P and MRP subunit p25 ISO ClinVar Annotator: match by term: PAPA SYNDROME ClinVar PMID:28492532 NCBI chr 8:57,907,352...57,908,732
Ensembl chr 8:57,907,352...57,908,732 		JBrowse link
G Scamp2 secretory carrier membrane protein 2 ISO ClinVar Annotator: match by term: PAPA SYNDROME ClinVar PMID:28492532 NCBI chr 8:66,861,504...66,888,151
Ensembl chr 8:57,965,631...57,992,646 		JBrowse link
G Scamp5 secretory carrier membrane protein 5 ISO ClinVar Annotator: match by term: PAPA SYNDROME ClinVar PMID:28492532 NCBI chr 8:57,845,831...57,884,516
Ensembl chr 8:57,846,659...57,872,027 		JBrowse link
G Scaper S-phase cyclin A-associated protein in the ER ISO ClinVar Annotator: match by term: PAPA SYNDROME ClinVar PMID:28492532 NCBI chr 8:55,932,717...56,332,222
Ensembl chr 8:55,933,306...56,332,122 		JBrowse link
G Sema7a semaphorin 7A (John Milton Hagen blood group) ISO ClinVar Annotator: match by term: PAPA SYNDROME ClinVar PMID:28492532 NCBI chr 8:67,244,318...67,267,060
Ensembl chr 8:58,348,448...58,370,536 		JBrowse link
G Sin3a SIN3 transcription regulator family member A ISO ClinVar Annotator: match by term: PAPA SYNDROME ClinVar PMID:28492532 NCBI chr 8:66,377,471...66,432,150
Ensembl chr 8:57,481,573...57,536,192 		JBrowse link
G Snupn snurportin 1 ISO ClinVar Annotator: match by term: PAPA SYNDROME ClinVar PMID:28492532 NCBI chr 8:66,242,940...66,286,651
Ensembl chr 8:57,348,130...57,380,912 		JBrowse link
G Snx33 sorting nexin 33 ISO ClinVar Annotator: match by term: PAPA SYNDROME ClinVar PMID:28492532 NCBI chr 8:66,213,133...66,224,926
Ensembl chr 8:57,317,161...57,327,538 		JBrowse link
G Stoml1 stomatin like 1 ISO ClinVar Annotator: match by term: PAPA SYNDROME ClinVar PMID:28492532 NCBI chr 8:58,661,980...58,669,860
Ensembl chr 8:58,661,992...58,669,860 		JBrowse link
G Stra6 signaling receptor and transporter of retinol STRA6 ISO ClinVar Annotator: match by term: PAPA SYNDROME ClinVar PMID:28492532 NCBI chr 8:67,444,757...67,464,719
Ensembl chr 8:58,549,736...58,568,860 		JBrowse link
G Tmem266 transmembrane protein 266 ISO ClinVar Annotator: match by term: PAPA SYNDROME ClinVar PMID:28492532 NCBI chr 8:64,603,199...64,716,770
Ensembl chr 8:55,707,122...55,820,692 		JBrowse link
G Ube2q2 ubiquitin conjugating enzyme E2 Q2 ISO ClinVar Annotator: match by term: PAPA SYNDROME ClinVar PMID:28492532 NCBI chr 8:55,518,402...55,578,342
Ensembl chr 8:55,519,147...55,577,212 		JBrowse link
G Ubl7 ubiquitin-like 7 ISO ClinVar Annotator: match by term: PAPA SYNDROME ClinVar PMID:28492532 NCBI chr 8:58,321,279...58,340,353
Ensembl chr 8:58,320,866...58,340,344 		JBrowse link
G Ulk3 unc-51 like kinase 3 ISO ClinVar Annotator: match by term: PAPA SYNDROME ClinVar PMID:28492532 NCBI chr 8:57,992,396...58,000,220
Ensembl chr 8:57,992,723...57,999,467 		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
ClinVar Annotator: match by term: KERATOLYSIS EXFOLIATIVA CONGENITA		 CTD
ClinVar		 PMID:28492532 NCBI chr20:3,179,432...3,184,252
Ensembl chr20:3,179,438...3,184,250 		JBrowse link
G Serpinb8 serpin family B member 8 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr13:23,626,936...23,650,277
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 C20h6orf15 similar to human chromosome 6 open reading frame 15 ISO ClinVar Annotator: match by term: Peeling skin syndrome 1 ClinVar PMID:31690835 NCBI chr20:3,172,330...3,173,886
Ensembl chr20:3,172,330...3,173,886 		JBrowse link
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...3,184,252
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 3:128,461,836...128,497,761
Ensembl chr 3:108,008,143...108,043,976 		JBrowse link
peeling skin syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tgm5 transglutaminase 5 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Acral peeling skin syndrome | ClinVar Annotator: match by term: Peeling skin syndrome 2		 OMIM
CTD
ClinVar		 PMID:16380904 PMID:19440220 PMID:20164844 PMID:21469335 PMID:22036214 More... NCBI chr 3:128,461,836...128,497,761
Ensembl chr 3:108,008,143...108,043,976 		JBrowse link
peeling skin syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chst8 carbohydrate sulfotransferase 8 ISO ClinVar Annotator: match by term: Peeling skin syndrome type A ClinVar PMID:22289416 PMID:25741868 PMID:28204496 PMID:28492532 NCBI chr 1:87,294,144...87,435,900
Ensembl chr 1:87,294,540...87,435,900 		JBrowse link
peeling skin syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Csta cystatin A ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Peeling skin syndrome 4		 OMIM
CTD
ClinVar		 PMID:12890214 PMID:21944047 PMID:22066523 PMID:23534700 PMID:25400170 NCBI chr11:78,125,813...78,136,818
Ensembl chr11:64,620,483...64,631,488 		JBrowse link
G Krt2 keratin 2 ISO ClinVar Annotator: match by term: Exfoliative ichthyosis ClinVar PMID:2004005 PMID:7521371 PMID:7524919 PMID:8077693 PMID:10233323 More... NCBI chr 7:132,940,879...132,948,031
Ensembl chr 7:132,940,862...132,947,963 		JBrowse link
peeling skin syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Serpinb8 serpin family B member 8 ISO ClinVar Annotator: match by term: Peeling skin syndrome 5 | ClinVar Annotator: match by term: SERPINB8-related condition OMIM
ClinVar		 PMID:25741868 PMID:27476651 PMID:28492532 NCBI chr13:23,626,936...23,650,277
Ensembl chr13:23,626,945...23,650,835 		JBrowse link
peeling skin syndrome 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Flg2 filaggrin 2 ISO ClinVar Annotator: match by term: Peeling skin syndrome 6 OMIM
ClinVar		 PMID:25741868 PMID:28884927 PMID:29505760 PMID:29758285 PMID:36403663 NCBI chr 2:178,789,792...178,802,232 JBrowse link
pemphigus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C3 complement C3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:74171 NCBI chr 9:2,174,412...2,201,339
Ensembl chr 9:2,087,437...2,114,429 		JBrowse link
G Cast calpastatin ISO RGD PMID:16314468 RGD:5509814 NCBI chr 2:5,707,633...5,817,213
Ensembl chr 2:3,973,112...4,082,659 		JBrowse link
G Cat catalase ISO protein:increased activities:skin: RGD PMID:22738420 RGD:9479165 NCBI chr 3:110,297,340...110,329,526
Ensembl chr 3:89,842,399...89,874,478 		JBrowse link
G Cd36 CD36 molecule ISO RGD PMID:21255096 RGD:5490304 NCBI chr 4:18,209,088...18,302,142
Ensembl chr 4:17,354,466...17,513,903 		JBrowse link
G Cd40 CD40 molecule ISO RGD PMID:21255096 RGD:5490304 NCBI chr 3:174,209,113...174,224,592
Ensembl chr 3:153,790,449...153,805,534 		JBrowse link
G Cd40lg CD40 ligand ISO mRNA, protein:increased expression:skin, serum RGD PMID:17531537 RGD:8547773 NCBI chr  X:140,164,341...140,176,057
Ensembl chr  X:135,126,969...135,138,306 		JBrowse link
G Il2 interleukin 2 ISO RGD PMID:6432916 RGD:8693324 NCBI chr 2:121,932,968...121,937,672
Ensembl chr 2:120,004,862...120,009,566 		JBrowse link
G Mbl2 mannose binding lectin 2 ISO protein:increased expression:skin: RGD PMID:21327568 RGD:8693728 NCBI chr 1:237,429,873...237,465,567 JBrowse link
G RT1-Ba RT1 class II, locus Ba ISO DNA:polymorphisms:cds:HLA-DQA1*0104, HLA-DQA1*03011 (human) RGD PMID:18780165 RGD:5147619 NCBI chr20:4,577,057...4,581,650
Ensembl chr20:4,575,134...4,579,744 		JBrowse link
G RT1-Bb RT1 class II, locus Bb ISO DNA:polymorphisms:cds:HLA-DQB1*0302, HLA-DQB1*0502 (human) RGD PMID:18780165 RGD:5147619 NCBI chr20:4,598,475...4,604,118
Ensembl chr20:4,596,559...4,607,597 		JBrowse link
G RT1-Db1 RT1 class II, locus Db1 susceptibility ISO DNA:polymorphisms (human)
DNA:polymorphism:cds:HLA-DRB1*0403, *0406, *1401, *1405, *1406 (human)		 RGD PMID:9347787 PMID:18780165 RGD:40818304, RGD:5147619 NCBI chr20:4,550,594...4,560,182
Ensembl chr20:4,548,666...4,558,258 		JBrowse link
pemphigus vulgaris term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dsg3 desmoglein 3 ISS OMIM:169610 MouseDO NCBI chr18:12,074,321...12,105,954
Ensembl chr18:11,798,900...11,830,818 		JBrowse link
G RT1-Bb RT1 class II, locus Bb ISO RGD PMID:28197992 RGD:14747041 NCBI chr20:4,598,475...4,604,118
Ensembl chr20:4,596,559...4,607,597 		JBrowse link
photosensitive trichothiodystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit ISS
ISO		 OMIM:601675
ClinVar Annotator: match by term: TRICHOTHIODYSTROPHY WITH CONGENITAL ICHTHYOSIS		 MouseDO
ClinVar		 PMID:7585650 PMID:7920640 PMID:8571952 PMID:9195225 PMID:9238033 More... NCBI chr 1:88,161,342...88,175,102
Ensembl chr 1:79,033,326...79,047,102 		JBrowse link
photosensitive trichothiodystrophy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cirop ciliated left-right organizer metallopeptidase ISO ClinVar Annotator: match by term: Trichothiodystrophy 1, photosensitive ClinVar PMID:25741868 NCBI chr15:28,151,018...28,158,149
Ensembl chr15:28,151,019...28,158,129 		JBrowse link
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit ISO ClinVar Annotator: match by term: Trichothiodystrophy 1, photosensitive OMIM
ClinVar		 PMID:7585650 PMID:7849702 PMID:7920640 PMID:8571952 PMID:9195225 More... NCBI chr 1:88,161,342...88,175,102
Ensembl chr 1:79,033,326...79,047,102 		JBrowse link
G Gtf2h5 general transcription factor IIH subunit 5 ISO RGD PMID:22824526 RGD:7246919 NCBI chr 1:46,656,804...46,663,512
Ensembl chr 1:46,656,859...46,664,939 		JBrowse link
G Mplkip M-phase specific PLK1 interacting protein ISO ClinVar Annotator: match by term: Trichothiodystrophy 1, photosensitive ClinVar NCBI chr17:47,373,624...47,376,199
Ensembl chr17:47,373,845...47,376,204 		JBrowse link
photosensitive trichothiodystrophy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ercc3 ERCC excision repair 3, TFIIH core complex helicase subunit ISO DNA:missense mutation:cds:p.T119P (human)
ClinVar Annotator: match by term: ERCC3-related condition | ClinVar Annotator: match by term: Trichothiodystrophy 2, photosensitive		 ClinVar
OMIM
RGD		 PMID:9012405 PMID:16947863 PMID:24728327 PMID:25741868 PMID:26023681 More... RGD:13207496 NCBI chr18:23,883,613...23,914,326
Ensembl chr18:23,883,580...23,914,329 		JBrowse link
photosensitive trichothiodystrophy 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gtf2h5 general transcription factor IIH subunit 5 ISO ClinVar Annotator: match by term: Trichothiodystrophy 3, photosensitive OMIM
ClinVar		 PMID:15220921 PMID:24986372 PMID:25620205 PMID:25741868 PMID:28492532 More... NCBI chr 1:46,656,804...46,663,512
Ensembl chr 1:46,656,859...46,664,939 		JBrowse link
photosensitivity disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Brd2 bromodomain containing 2 susceptibility ISO DNA:SNPs,haplotype: : RGD PMID:16516380 RGD:9586343 NCBI chr20:4,728,282...4,737,286
Ensembl chr20:4,728,151...4,735,388 		JBrowse link
G Eln elastin ISO protein:decreased expression:skin: RGD PMID:18753059 RGD:9585765 NCBI chr12:27,604,983...27,648,413
Ensembl chr12:21,968,544...22,011,928 		JBrowse link
PLACK syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cast calpastatin ISO ClinVar Annotator: match by term: CAST-related condition | ClinVar Annotator: match by term: Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads OMIM
ClinVar		 PMID:3527073 PMID:25683118 PMID:25741868 PMID:28492532 NCBI chr 2:5,707,633...5,817,213
Ensembl chr 2:3,973,112...4,082,659 		JBrowse link
G Erap1 endoplasmic reticulum aminopeptidase 1 ISO ClinVar Annotator: match by term: CAST-related condition | ClinVar Annotator: match by term: Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads ClinVar PMID:3527073 PMID:25683118 PMID:28492532 NCBI chr 2:5,666,337...5,705,256
Ensembl chr 2:3,931,904...3,972,447 		JBrowse link
pretibial 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, pretibial, autosomal recessive | ClinVar Annotator: match by term: Pretibial dystrophic epidermolysis bullosa | ClinVar Annotator: match by term: Pretibial epidermolysis bullosa
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:7695699 PMID:7833933 PMID:7861014 PMID:8088783 PMID:8218237 More... NCBI chr 8:118,483,364...118,515,736
Ensembl chr 8:109,604,861...109,637,252 		JBrowse link
pustulosis of palm and sole term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lta lymphotoxin alpha ISO DNA:SNP:intron:IVS1 (human) RGD PMID:12691703 RGD:8548804 NCBI chr20:3,622,291...3,625,852
Ensembl chr20:3,618,853...3,620,859 		JBrowse link
G Tnf tumor necrosis factor no_association ISO DNA:SNPs:promoter:multiple
DNA:SNPs, haplotype:5' utr:multiple		 RGD PMID:11019918 PMID:12691703 RGD:8548803, RGD:8548804 NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,622,011...3,624,629 		JBrowse link
pyoderma gangrenosum term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mefv MEFV innate immunity regulator, pyrin ISO CTD Direct Evidence: marker/mechanism CTD PMID:27106250 NCBI chr10:12,288,514...12,303,337
Ensembl chr10:11,787,422...11,796,973 		JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO protein:increased expression:skin RGD PMID:21658319 RGD:8657060 NCBI chr19:30,327,643...30,355,856
Ensembl chr19:14,154,657...14,182,870 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:skin RGD PMID:21658319 RGD:8657060 NCBI chr 3:174,103,474...174,111,434
Ensembl chr 3:153,683,858...153,692,120 		JBrowse link
G Nlrp3 NLR family, pyrin domain containing 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27106250 NCBI chr10:44,826,299...44,853,373
Ensembl chr10:44,328,566...44,352,811 		JBrowse link
G Nod2 nucleotide-binding oligomerization domain containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27106250 NCBI chr19:34,555,832...34,596,281
Ensembl chr19:18,382,439...18,417,177 		JBrowse link
G Pstpip1 proline-serine-threonine phosphatase-interacting protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27106250 NCBI chr 8:65,395,328...65,434,616
Ensembl chr 8:56,499,590...56,538,580 		JBrowse link
recessive 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 ISS
ISO		 OMIM:226600
ClinVar Annotator: match by term: Epidermolysis bullosa dystrophica inversa, autosomal recessive | ClinVar Annotator: match by term: Recessive dystrophic epidermolysis bullosa		 MouseDO
ClinVar		 PMID:1050445 PMID:7577595 PMID:7695699 PMID:7833933 PMID:7883979 More... NCBI chr 8:118,483,364...118,515,736
Ensembl chr 8:109,604,861...109,637,252 		JBrowse link
G Grip1 glutamate receptor interacting protein 1 ISS OMIM:226600 MouseDO NCBI chr 7:56,820,501...57,477,877
Ensembl chr 7:54,934,250...55,592,273 		JBrowse link
G Mir711 microRNA 711 ISO ClinVar Annotator: match by term: Epidermolysis bullosa dystrophica inversa, autosomal recessive ClinVar PMID:28492532 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 ISO ClinVar Annotator: match by term: Recessive dystrophic epidermolysis bullosa ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:12,943,453...12,963,966
Ensembl chr 8:4,658,588...4,679,097 		JBrowse link
Seborrhea-Like Dermatitis with Psoriasiform Elements term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbcd tubulin folding cofactor D ISO ClinVar Annotator: match by term: Seborrhea-like dermatitis with psoriasiform elements | ClinVar Annotator: match by term: ZNF750-related condition ClinVar PMID:16751772 PMID:25741868 PMID:28492532 NCBI chr10:107,215,626...107,372,398
Ensembl chr10:106,717,367...106,874,122 		JBrowse link
G Znf750 zinc finger protein 750 ISO ClinVar Annotator: match by term: Seborrhea-like dermatitis with psoriasiform elements | ClinVar Annotator: match by term: ZNF750-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:16751772 PMID:25741868 PMID:28492532 NCBI chr10:106,772,162...106,781,186
Ensembl chr10:106,772,669...106,781,200 		JBrowse link
seborrheic dermatitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cat catalase ISO protein:increased activity:scalp: RGD PMID:24001414 RGD:9479166 NCBI chr 3:110,297,340...110,329,526
Ensembl chr 3:89,842,399...89,874,478 		JBrowse link
G Tlr2 toll-like receptor 2 treatment ISO RGD PMID:21566548 RGD:8553045 NCBI chr 2:171,499,189...171,504,831
Ensembl chr 2:169,197,419...169,206,630 		JBrowse link
Serum Sickness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alb albumin ISO CTD Direct Evidence: marker/mechanism CTD PMID:350256 PMID:9380243 NCBI chr14:17,891,564...17,907,043
Ensembl chr14:17,607,381...17,622,836 		JBrowse link
Stevens-Johnson syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alb albumin ISO CTD Direct Evidence: therapeutic CTD PMID:12239465 NCBI chr14:17,891,564...17,907,043
Ensembl chr14:17,607,381...17,622,836 		JBrowse link
G Apcs amyloid P component, serum ISO CTD Direct Evidence: marker/mechanism CTD PMID:34142820 NCBI chr13:87,905,532...87,906,508
Ensembl chr13:85,373,220...85,374,298 		JBrowse link
G C1qa complement C1q A chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:34142820 NCBI chr 5:154,417,086...154,419,933
Ensembl chr 5:149,133,636...149,136,534 		JBrowse link
G C1qc complement C1q C chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:34142820 NCBI chr 5:154,410,845...154,414,208
Ensembl chr 5:149,127,415...149,131,017 		JBrowse link
G Cav1 caveolin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 4:46,606,538...46,639,616
Ensembl chr 4:45,634,918...45,673,705 		JBrowse link
G Celf2 CUGBP, Elav-like family member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr17:70,904,462...71,729,072
Ensembl chr17:71,210,853...71,728,333 		JBrowse link
G Cfhr1 complement factor H-related 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34142820 NCBI chr13:53,946,298...53,961,282
Ensembl chr13:51,369,211...51,410,592 		JBrowse link
G Cfp complement factor properdin ISO CTD Direct Evidence: marker/mechanism CTD PMID:34142820 NCBI chr  X:3,715,551...3,721,113
Ensembl chr  X:1,161,979...1,167,573 		JBrowse link
G Clu clusterin ISO mRNA:decreased expression:conjunctiva RGD PMID:12036968 RGD:8699507 NCBI chr15:44,336,619...44,375,861
Ensembl chr15:40,174,617...40,200,315 		JBrowse link
G Cops5 COP9 signalosome subunit 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 5:13,975,198...13,993,391
Ensembl chr 5:9,192,100...9,210,731 		JBrowse link
G Crp C-reactive protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:34142820 NCBI chr13:87,694,062...87,695,978
Ensembl chr13:85,124,977...85,175,178 		JBrowse link
G Csf3 colony stimulating factor 3 ISO CTD Direct Evidence: therapeutic CTD PMID:11321886 NCBI chr10:84,157,485...84,159,860
Ensembl chr10:83,661,207...83,663,603 		JBrowse link
G Ctnnb1 catenin beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 8:129,517,576...129,544,661
Ensembl chr 8:120,639,995...120,667,111 		JBrowse link
G Cul1 cullin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 4:77,551,781...77,634,210
Ensembl chr 4:76,551,983...76,627,980 		JBrowse link
G Cul4a cullin 4A ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr16:83,086,688...83,124,503
Ensembl chr16:76,384,546...76,422,330 		JBrowse link
G Derl1 derlin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 7:91,293,963...91,316,639
Ensembl chr 7:89,404,417...89,427,145 		JBrowse link
G Elmo1 engulfment and cell motility 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr17:48,982,188...49,518,525
Ensembl chr17:44,286,485...44,822,788 		JBrowse link
G Ep300 E1A binding protein p300 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 7:114,987,857...115,058,652
Ensembl chr 7:113,106,247...113,136,088
Ensembl chr 7:113,106,247...113,136,088 		JBrowse link
G Fbxo6 F-box protein 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 5:158,576,729...158,582,520
Ensembl chr 5:158,576,759...158,582,525 		JBrowse link
G Gstm1 glutathione S-transferase mu 1 ISO RGD PMID:28689274 RGD:14700974 NCBI chr 2:198,338,005...198,346,007
Ensembl chr 2:195,649,845...195,655,411 		JBrowse link
G Ifng interferon gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 7:55,789,180...55,793,216
Ensembl chr 7:53,903,337...53,907,375 		JBrowse link
G Lbp lipopolysaccharide binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:34142820 NCBI chr 3:167,373,786...167,400,941
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 9:1,034,691...1,036,937
Ensembl chr 9:947,516...949,813 		JBrowse link
G Mif macrophage migration inhibitory factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:9372356 NCBI chr20:12,767,138...12,791,222
Ensembl chr20:12,790,902...12,799,504
Ensembl chr 4:12,790,902...12,799,504 		JBrowse link
G Mir18a microRNA 18a ISO CTD Direct Evidence: marker/mechanism CTD PMID:34142820 NCBI chr15:98,587,984...98,588,079
Ensembl chr15:92,180,765...92,180,860 		JBrowse link
G Nedd4 NEDD4 E3 ubiquitin protein ligase ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 8:82,264,751...82,349,642
Ensembl chr 8:73,383,695...73,468,951 		JBrowse link
G Nfkbiz NFKB inhibitor zeta ISS MouseDO NCBI chr11:58,251,720...58,279,767
Ensembl chr11:44,782,676...44,810,723 		JBrowse link
G Nos2 nitric oxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10620138 NCBI chr10:64,313,335...64,349,221
Ensembl chr10:63,815,308...63,851,210 		JBrowse link
G Nucb1 nucleobindin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 1:105,104,793...105,135,730
Ensembl chr 1:95,968,326...96,003,220 		JBrowse link
G Orm1 orosomucoid 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34142820 NCBI chr 5:81,788,509...81,791,661
Ensembl chr 5:76,772,941...76,776,154 		JBrowse link
G Parp1 poly (ADP-ribose) polymerase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr13:94,839,484...94,871,295
Ensembl chr13:92,307,586...92,339,404 		JBrowse link
G Pml PML nuclear body scaffold ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 8:67,523,164...67,557,801
Ensembl chr 8:58,628,837...58,658,971 		JBrowse link
G Pros1 protein S ISO CTD Direct Evidence: marker/mechanism CTD PMID:34142820 NCBI chr11:13,676,310...13,757,858
Ensembl chr11:230,696...311,286 		JBrowse link
G Psmc5 proteasome 26S subunit, ATPase 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr10:91,687,553...91,693,487
Ensembl chr10:91,187,743...91,213,135 		JBrowse link
G Ptger3 prostaglandin E receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21966456 NCBI chr 2:249,264,985...249,409,966
Ensembl chr 2:246,606,183...246,684,434 		JBrowse link
G Ptgis prostaglandin I2 synthase ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 3:176,347,589...176,383,251
Ensembl chr 3:155,916,412...155,965,451 		JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr15:54,780,858...54,911,989
Ensembl chr15:48,371,296...48,502,302 		JBrowse link
G Rbx1 ring-box 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 7:114,870,893...114,881,194
Ensembl chr 7:112,990,835...113,001,051 		JBrowse link
G RT1-Bb RT1 class II, locus Bb susceptibility ISO DNA:polymorphism:cds:HLA-DQB1*0601 (human) RGD PMID:8841298 RGD:7483570 NCBI chr20:4,598,475...4,604,118
Ensembl chr20:4,596,559...4,607,597 		JBrowse link
G RT1-CE13 RT1 class I, locus CE13 susceptibility ISO DNA:polymorphisms:cds:HLA-B*5801 (human, Japanese)
DNA:polymorphisms:cds:HLA-B*15:02, HLA-B*40:01, HLA-B*58:02 (human) 		RGD PMID:19018717 PMID:23692434 RGD:7364874, RGD:7365090 NCBI chr20:3,314,491...3,322,815 JBrowse link
G RT1-CE16 RT1 class I, locus CE16 susceptibility ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hypersensitivity syndrome, carbamazepine-induced, susceptibility to		 CTD
OMIM
ClinVar		 PMID:16538176 PMID:21428769 PMID:23588310 NCBI chr20:3,261,656...3,265,548
Ensembl chr20:3,257,123...3,279,563 		JBrowse link
G Tnf tumor necrosis factor ISO protein:increased expression:blister: RGD PMID:9852250 RGD:7401184 NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,622,011...3,624,629 		JBrowse link
G Vcp valosin-containing protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 5:62,005,984...62,025,387
Ensembl chr 5:57,210,168...57,229,571 		JBrowse link
G Vwf von Willebrand factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:34142820 NCBI chr 4:160,042,900...160,177,757
Ensembl chr 4:158,360,152...158,491,539 		JBrowse link
Sunburn term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ahcy adenosylhomocysteinase ISO ClinVar Annotator: match by term: ASIP-related condition | ClinVar Annotator: match by term: SKIN/HAIR/EYE PIGMENTATION 9, DARK/LIGHT HAIR ClinVar PMID:11833005 PMID:18488028 PMID:25741868 PMID:28492532 NCBI chr 3:164,029,338...164,044,562
Ensembl chr 3:143,569,094...143,584,393 		JBrowse link
G Asip agouti signaling protein ISO ClinVar Annotator: match by term: ASIP-related condition | ClinVar Annotator: match by term: SKIN/HAIR/EYE PIGMENTATION 9, DARK/LIGHT HAIR OMIM
ClinVar		 PMID:11833005 PMID:18488028 PMID:25741868 PMID:28492532 NCBI chr 3:163,933,768...164,021,377
Ensembl chr 3:143,555,696...143,561,171 		JBrowse link
G Eln elastin ISO mRNA:increased expression:skin: RGD PMID:8040608 RGD:9585745 NCBI chr12:27,604,983...27,648,413
Ensembl chr12:21,968,544...22,011,928 		JBrowse link
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:17470448 NCBI chr 1:88,161,342...88,175,102
Ensembl chr 1:79,033,326...79,047,102 		JBrowse link
G Mmp9 matrix metallopeptidase 9 susceptibility ISO associated with skin melanoma;DNA:missense mutations:cds:p.Q279R, p.R668Q (human) RGD PMID:17346338 RGD:8547886 NCBI chr 3:174,103,474...174,111,434
Ensembl chr 3:153,683,858...153,692,120 		JBrowse link
G Nfe2l2 NFE2 like bZIP transcription factor 2 ISO RGD PMID:18200051 RGD:6893371 NCBI chr 3:81,001,529...81,031,165
Ensembl chr 3:60,594,242...60,621,737 		JBrowse link
G Vdr vitamin D receptor susceptibility ISO DNA:SNP: :rs2228570 (human) RGD PMID:19105801 RGD:8158067 NCBI chr 7:130,864,764...130,916,757
Ensembl chr 7:128,987,981...129,037,677 		JBrowse link
transient bullous dermolysis of the newborn 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, NEONATAL FORM | ClinVar Annotator: match by term: Epidermolysis bullosa dystrophica, dominant neonatal form | ClinVar Annotator: match by term: Transient bullous dermolysis of the newborn
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:2653224 PMID:7695699 PMID:7833933 PMID:8088783 PMID:8218237 More... NCBI chr 8:118,483,364...118,515,736
Ensembl chr 8:109,604,861...109,637,252 		JBrowse link
UV-Induced Skin Damage term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mc1r melanocortin 1 receptor ISO ClinVar Annotator: match by term: UV-induced skin damage, susceptibility to ClinVar PMID:16463023 PMID:28492532 NCBI chr19:68,360,950...68,363,877
Ensembl chr19:51,453,239...51,454,192 		JBrowse link
UV-sensitive 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 CTD Direct Evidence: marker/mechanism CTD PMID:26972010 NCBI chr16:7,771,311...7,841,895
Ensembl chr16:7,765,013...7,835,587 		JBrowse link
G Ercc8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:41,380,901...41,418,294
Ensembl chr 2:39,647,452...39,684,859 		JBrowse link
G Uvssa UV-stimulated scaffold protein A ISO CTD Direct Evidence: marker/mechanism CTD PMID:22466610 PMID:22466612 NCBI chr14:77,309,188...77,351,922
Ensembl chr14:77,314,056...77,351,903 		JBrowse link
UV-Sensitive Syndrome 1 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: UV-SENSITIVE SYNDROME 1 | ClinVar Annotator: match by term: UV-sensitive syndrome 1 ClinVar
OMIM		 PMID:887325 PMID:1339317 PMID:7264357 PMID:9150142 PMID:9443879 More... NCBI chr16:7,771,311...7,841,895
Ensembl chr16:7,765,013...7,835,587 		JBrowse link
UV-Sensitive Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ercc8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit ISO ClinVar Annotator: match by term: UV-sensitive syndrome 2 OMIM
ClinVar		 PMID:18414213 PMID:19329487 PMID:19894250 PMID:25741868 PMID:28492532 More... NCBI chr 2:41,380,901...41,418,294
Ensembl chr 2:39,647,452...39,684,859 		JBrowse link
UV-Sensitive Syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Uvssa UV-stimulated scaffold protein A ISO ClinVar Annotator: match by term: UV-sensitive syndrome 3 | ClinVar Annotator: match by term: UVSSA-related condition OMIM
ClinVar		 PMID:3774595 PMID:3974603 PMID:7513056 PMID:10771487 PMID:19329487 More... NCBI chr14:77,309,188...77,351,922
Ensembl chr14:77,314,056...77,351,903 		JBrowse link
vesiculobullous skin disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fermt1 FERM domain containing kindlin 1 ISO Kindler syndrome, OMIM:173650 RGD PMID:12668616 RGD:1600405 NCBI chr 3:140,624,434...140,666,419
Ensembl chr 3:120,171,561...120,213,555 		JBrowse link
xeroderma pigmentosum term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ddb1 damage-specific DNA binding protein 1 ISO RGD PMID:22824526 RGD:7246919 NCBI chr 1:216,677,810...216,703,605
Ensembl chr 1:207,252,890...207,278,676 		JBrowse link
G Ddb2 damage specific DNA binding protein 2 susceptibility ISO DNA:transitions: :p.K244E, p.R273H
ClinVar Annotator: match by term: Xeroderma pigmentosum		 ClinVar
RGD		 PMID:24728327 PMID:25741868 PMID:26580448 PMID:28492532 PMID:8798680 RGD:1601050 NCBI chr 3:77,185,114...77,207,650
Ensembl chr 3:77,185,109...77,207,631 		JBrowse link
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit ISO XPD,OMIM:278730;DNA:point mutation:exon:L461V, Q726X,
ClinVar Annotator: match by term: Xeroderma pigmentosum		 ClinVar
RGD		 PMID:3341805 PMID:7585650 PMID:7825573 PMID:7849702 PMID:7920640 More... RGD:1601068 NCBI chr 1:88,161,342...88,175,102
Ensembl chr 1:79,033,326...79,047,102 		JBrowse link
G Ercc3 ERCC excision repair 3, TFIIH core complex helicase subunit ISO ClinVar Annotator: match by term: Xeroderma pigmentosum ClinVar
RGD		 PMID:8304337 PMID:9536098 PMID:16199547 PMID:16550608 PMID:16947863 More... RGD:1598912, RGD:7246919 NCBI chr18:23,883,613...23,914,326
Ensembl chr18:23,883,580...23,914,329 		JBrowse link
G Ercc4 ERCC excision repair 4, endonuclease catalytic subunit ISO DNA:deletion, point mutation:2281delTCTC, p.R788W
ClinVar Annotator: match by term: Xeroderma pigmentosum		 ClinVar
RGD		 PMID:8797827 PMID:9485007 PMID:9579555 PMID:9580660 PMID:15159313 More... RGD:1601093, RGD:7246919 NCBI chr10:2,926,085...2,958,176
Ensembl chr10:2,419,038...2,448,369
Ensembl chr10:2,419,038...2,448,369 		JBrowse link
G Ercc5 ERCC excision repair 5, endonuclease ISO ClinVar Annotator: match by term: Xeroderma pigmentosum ClinVar
RGD		 PMID:2478446 PMID:7951246 PMID:8317483 PMID:9096355 PMID:11841555 More... RGD:7246919 NCBI chr 9:46,309,477...46,354,478
Ensembl chr 9:46,309,389...46,354,472 		JBrowse link
G Klc3 kinesin light chain 3 ISO ClinVar Annotator: match by term: Xeroderma pigmentosum ClinVar NCBI chr 1:88,173,842...88,183,806
Ensembl chr 1:79,045,844...79,055,416 		JBrowse link
G Polh DNA polymerase eta ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Xeroderma pigmentosum		 CTD
ClinVar		 PMID:10398605 PMID:10871396 PMID:11121129 PMID:11773631 PMID:17344931 More... NCBI chr 9:22,275,929...22,310,576
Ensembl chr 9:14,777,888...14,812,723 		JBrowse link
G Terf2 telomeric repeat binding factor 2 ISS MouseDO NCBI chr19:51,887,221...51,915,756
Ensembl chr19:34,977,471...35,005,819 		JBrowse link
G Tmem43 transmembrane protein 43 ISO ClinVar Annotator: match by term: Xeroderma pigmentosum ClinVar PMID:18414213 PMID:23400628 PMID:25741868 PMID:28492532 NCBI chr 4:125,534,844...125,549,986
Ensembl chr 4:123,977,625...123,992,825 		JBrowse link
G Tp53 tumor protein p53 ISO GAD PMID:15118671 RGD:1331525 NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,300,048...54,311,524 		JBrowse link
G Xpa XPA, DNA damage recognition and repair factor ISO ClinVar Annotator: match by term: Xeroderma pigmentosum
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:1339397 PMID:1352672 PMID:1372102 PMID:1372103 PMID:1601884 More... RGD:1331525, RGD:7246919, RGD:1599876 NCBI chr 5:65,227,281...65,275,784
Ensembl chr 5:60,431,673...60,475,726 		JBrowse link
G Xpc XPC complex subunit, DNA damage recognition and repair factor ISO ClinVar Annotator: match by term: Xeroderma pigmentosum
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:8298653 PMID:9804340 PMID:10766188 PMID:11511294 PMID:15654957 More... RGD:1599878, RGD:7246919 NCBI chr 4:125,550,833...125,578,084
Ensembl chr 4:123,993,666...124,021,010 		JBrowse link
xeroderma pigmentosum group A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Xpa XPA, DNA damage recognition and repair factor ISO
ISS		 ClinVar Annotator: match by term: XPA-related condition | ClinVar Annotator: match by term: Xeroderma pigmentosum group A
OMIM:278700		 OMIM
ClinVar
MouseDO		 PMID:1339397 PMID:1352672 PMID:1372102 PMID:1372103 PMID:1601884 More... NCBI chr 5:65,227,281...65,275,784
Ensembl chr 5:60,431,673...60,475,726 		JBrowse link
G Xpc XPC complex subunit, DNA damage recognition and repair factor ISO ClinVar Annotator: match by term: Xeroderma pigmentosum group A ClinVar PMID:12177305 PMID:17119055 PMID:18414213 PMID:23400628 PMID:24728327 More... NCBI chr 4:125,550,833...125,578,084
Ensembl chr 4:123,993,666...124,021,010 		JBrowse link
xeroderma pigmentosum group B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ercc3 ERCC excision repair 3, TFIIH core complex helicase subunit ISO
ISS		 ClinVar Annotator: match by term: Xeroderma pigmentosum group B
OMIM:610651
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:2167179 PMID:4811796 PMID:8304337 PMID:8408834 PMID:8663148 More... NCBI chr18:23,883,613...23,914,326
Ensembl chr18:23,883,580...23,914,329 		JBrowse link
xeroderma pigmentosum group C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit ISO ClinVar Annotator: match by term: Xeroderma pigmentosum, group C ClinVar PMID:25741868 NCBI chr 1:88,161,342...88,175,102
Ensembl chr 1:79,033,326...79,047,102 		JBrowse link
G Tmem43 transmembrane protein 43 ISO ClinVar Annotator: match by term: Xeroderma pigmentosum, group C ClinVar PMID:18414213 PMID:23400628 PMID:25741868 PMID:28492532 NCBI chr 4:125,534,844...125,549,986
Ensembl chr 4:123,977,625...123,992,825 		JBrowse link
G Xpc XPC complex subunit, DNA damage recognition and repair factor ISO
ISS		 ClinVar Annotator: match by term: XPC-related condition | ClinVar Annotator: match by term: Xeroderma pigmentosum, group C
OMIM:278720
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:8298653 PMID:9536098 PMID:9804340 PMID:10766188 PMID:11511294 More... NCBI chr 4:125,550,833...125,578,084
Ensembl chr 4:123,993,666...124,021,010 		JBrowse link
xeroderma pigmentosum group D term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit ISO ClinVar Annotator: match by term: Xeroderma pigmentosum, group D ClinVar NCBI chr 1:88,099,308...88,135,966
Ensembl chr 1:78,996,390...79,007,963 		JBrowse link
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit ISO
ISS		 ClinVar Annotator: match by term: XP4 XERODERMA PIGMENTOSUM VIII | ClinVar Annotator: match by term: Xeroderma pigmentosum, group D
OMIM:278730
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:7585650 PMID:7849702 PMID:7920640 PMID:8571952 PMID:9101292 More... NCBI chr 1:88,161,342...88,175,102
Ensembl chr 1:79,033,326...79,047,102 		JBrowse link
G Klc3 kinesin light chain 3 ISO ClinVar Annotator: match by term: Xeroderma pigmentosum, group D ClinVar PMID:25741868 NCBI chr 1:88,173,842...88,183,806
Ensembl chr 1:79,045,844...79,055,416 		JBrowse link
G Msh6 mutS homolog 6 ISO ClinVar Annotator: match by term: XP4 XERODERMA PIGMENTOSUM VIII ClinVar PMID:25741868 PMID:28492532 PMID:33471991 NCBI chr 6:12,316,190...12,333,505
Ensembl chr 6:6,562,632...6,579,956 		JBrowse link
xeroderma pigmentosum group E term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ddb2 damage specific DNA binding protein 2 ISO
ISS		 ClinVar Annotator: match by term: DDB2-related condition | ClinVar Annotator: match by term: Xeroderma pigmentosum, group E
OMIM:278740
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:8798680 PMID:10469312 PMID:10585395 PMID:10777490 PMID:12812979 More... NCBI chr 3:77,185,114...77,207,650
Ensembl chr 3:77,185,109...77,207,631 		JBrowse link
xeroderma pigmentosum group F term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ercc4 ERCC excision repair 4, endonuclease catalytic subunit ISO
ISS		 ClinVar Annotator: match by term: Xeroderma pigmentosum, group F | ClinVar Annotator: match by term: Xeroderma pigmentosum, type F/Cockayne syndrome
OMIM:278760
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:8797827 PMID:9485007 PMID:9536098 PMID:9579555 PMID:9580660 More... NCBI chr10:2,926,085...2,958,176
Ensembl chr10:2,419,038...2,448,369
Ensembl chr10:2,419,038...2,448,369 		JBrowse link
G Mir193b microRNA 193b ISO ClinVar Annotator: match by term: Xeroderma pigmentosum, group F ClinVar PMID:28492532 NCBI chr10:1,824,944...1,825,026
Ensembl chr10:1,317,742...1,317,824 		JBrowse link
G Mrtfb myocardin related transcription factor B ISO ClinVar Annotator: match by term: Xeroderma pigmentosum, group F ClinVar PMID:28492532 NCBI chr10:1,623,887...1,789,658
Ensembl chr10:1,116,310...1,277,897 		JBrowse link
G Parn poly(A)-specific ribonuclease ISO ClinVar Annotator: match by term: Xeroderma pigmentosum, group F ClinVar PMID:28492532 NCBI chr10:1,410,636...1,548,573
Ensembl chr10:1,410,642...1,548,560 		JBrowse link
xeroderma pigmentosum group G term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ercc5 ERCC excision repair 5, endonuclease ISO
ISS		 ClinVar Annotator: match by term: Xeroderma pigmentosum, group G
OMIM:278780
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:492197 PMID:698095 PMID:7951246 PMID:9096355 PMID:10026181 More... NCBI chr 9:46,309,477...46,354,478
Ensembl chr 9:46,309,389...46,354,472 		JBrowse link
xeroderma pigmentosum variant type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Polh DNA polymerase eta ISO
ISS		 ClinVar Annotator: match by term: POLH-related condition | ClinVar Annotator: match by term: Xeroderma pigmentosum variant type
OMIM:278750
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:9536098 PMID:10385124 PMID:10398605 PMID:10871396 PMID:11121129 More... NCBI chr 9:22,275,929...22,310,576
Ensembl chr 9:14,777,888...14,812,723 		JBrowse link
XFE progeroid syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit ISS OMIM:610965 MouseDO NCBI chr 1:88,099,308...88,135,966
Ensembl chr 1:78,996,390...79,007,963 		JBrowse link
G Ercc4 ERCC excision repair 4, endonuclease catalytic subunit ISO ClinVar Annotator: match by term: XFE progeroid syndrome | ClinVar Annotator: match by term: XPF-ERCC1 PROGEROID SYNDROME
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:8797827 PMID:9485007 PMID:9579555 PMID:15159313 PMID:15886521 More... NCBI chr10:2,926,085...2,958,176
Ensembl chr10:2,419,038...2,448,369
Ensembl chr10:2,419,038...2,448,369 		JBrowse link
G Pole DNA polymerase epsilon, catalytic subunit ISO ClinVar Annotator: match by term: XFE progeroid syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr12:52,005,155...52,053,761
Ensembl chr12:46,345,420...46,393,939 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19139
    sensory system disease 7383
      skin disease 4322
        dermatitis 528
          Agammaglobulinemia, Microcephaly, and Severe Dermatitis 0
          Autoimmune Progesterone Dermatitis 0
          Bahemuka Brown Syndrome 0
          Dandruff 0
          Drug Eruptions + 76
          Eczema + 12
          Exfoliative Dermatitis + 12
          Intertrigo 0
          Lipodermatosclerosis 1
          Microcephaly, Congenital Cataract, and Psoriasiform Dermatitis 1
          Neonatal Inflammatory Skin and Bowel Disease + 3
          Perioral Dermatitis 0
          Radiodermatitis 0
          Seborrhea-Like Dermatitis with Psoriasiform Elements 2
          acneiform dermatitis 0
          acrodermatitis + 5
          bullous skin disease + 168
          contact dermatitis + 246
          dermatosis papulosa nigra 0
          erysipelas 0
          folliculitis + 1
          granuloma annulare 0
          granulomatous dermatitis 0
          neurodermatitis 0
          neurotic excoriation 0
          photosensitivity disease + 35
          pityriasis rosea 0
          pustulosis of palm and sole 2
          pyoderma + 52
          seborrheic dermatitis + 3
          spongiotic dermatitis 0
Path 2
Term Annotations click to browse term
  disease 19139
    Pathological Conditions, Signs and Symptoms 13625
      Signs and Symptoms 11221
        Neurologic Manifestations 10463
          sensory system disease 7383
            skin disease 4322
              dermatitis 528
                Agammaglobulinemia, Microcephaly, and Severe Dermatitis 0
                Autoimmune Progesterone Dermatitis 0
                Bahemuka Brown Syndrome 0
                Dandruff 0
                Drug Eruptions + 76
                Eczema + 12
                Exfoliative Dermatitis + 12
                Intertrigo 0
                Lipodermatosclerosis 1
                Microcephaly, Congenital Cataract, and Psoriasiform Dermatitis 1
                Neonatal Inflammatory Skin and Bowel Disease + 3
                Perioral Dermatitis 0
                Radiodermatitis 0
                Seborrhea-Like Dermatitis with Psoriasiform Elements 2
                acneiform dermatitis 0
                acrodermatitis + 5
                bullous skin disease + 168
                contact dermatitis + 246
                dermatosis papulosa nigra 0
                erysipelas 0
                folliculitis + 1
                granuloma annulare 0
                granulomatous dermatitis 0
                neurodermatitis 0
                neurotic excoriation 0
                photosensitivity disease + 35
                pityriasis rosea 0
                pustulosis of palm and sole 2
                pyoderma + 52
                seborrheic dermatitis + 3
                spongiotic dermatitis 0
paths to the root