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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:bullous skin disease
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Accession:DOID:8502 term browser browse the term
Definition:A dermatitis that is characterized by blisters filled with a watery fluid, located_in skin. The disease is associated with the amount of gluten ingested. (DO)
Synonyms:exact_synonym: bullous dermatoses;   bullous skin diseases
 narrow_synonym: autoimmune bullous skin disease
 xref: EFO:0008598;   EFO:1000673
For additional species annotation, visit the Alliance of Genome Resources.



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atrichia with papular lesions term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hr lysine demethylase and nuclear receptor corepressor ISO
IAGP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Atrichia with papular lesions | ClinVar Annotator: match by term: Papular Atrichia
OMIM:209500
OMIM
CTD
ClinVar
MouseDO
PMID:8790387 PMID:9445480 PMID:9736769 PMID:9758627 PMID:9856480 More... NCBI chr14:70,789,644...70,810,988
Ensembl chr14:70,789,652...70,810,988
JBrowse link
G Odc1 ornithine decarboxylase, structural 1 IAGP OMIM:209500 MouseDO NCBI chr12:17,594,906...17,601,503
Ensembl chr12:17,594,795...17,601,506
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 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 9:108,782,654...108,813,943
Ensembl chr 9:108,782,654...108,813,943
JBrowse link
G Itgb4 integrin beta 4 ISO ClinVar Annotator: match by term: Cockayne-Touraine type epidermolysis bullosa ClinVar PMID:25741868 PMID:28492532 NCBI chr11:115,865,556...115,899,238
Ensembl chr11:115,865,535...115,899,238
JBrowse link
G Krt14 keratin 14 ISO ClinVar Annotator: match by term: Cockayne-Touraine type epidermolysis bullosa ClinVar PMID:25741868 PMID:28492532 NCBI chr11:100,093,988...100,098,336
Ensembl chr11:100,093,988...100,098,374
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 chr15:101,615,504...101,621,340
Ensembl chr15:101,615,505...101,621,333
JBrowse link
Blister term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adam17 a disintegrin and metallopeptidase domain 17 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19167455 NCBI chr12:21,373,510...21,423,633
Ensembl chr12:21,373,510...21,423,633
JBrowse link
G Anxa1 annexin A1 ISO associated with Hypersensitivity, Delayed;protein:increased expression:mononuclear cell RGD PMID:10331485 RGD:7421575 NCBI chr19:20,350,798...20,368,035
Ensembl chr19:20,350,792...20,368,308
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 chr18:20,643,331...20,674,367
Ensembl chr18:20,643,331...20,680,516
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 chr 5:135,589,302...135,592,423
Ensembl chr 5:135,589,302...135,592,423
JBrowse link
G Cfb complement factor B IMP RGD PMID:17024247 RGD:7421522 NCBI chr17:35,075,350...35,081,492
Ensembl chr17:35,075,350...35,081,494
JBrowse link
G Cxcl15 C-X-C motif chemokine ligand 15 ISO
EXP
CTD Direct Evidence: marker/mechanism CTD PMID:11359455 NCBI chr 5:90,942,393...90,950,926
Ensembl chr 5:90,942,393...90,950,926
JBrowse link
G F2 coagulation factor II ISO protein:increased expression:plasma RGD PMID:21488867 RGD:5147756 NCBI chr 2:91,442,742...91,466,799
Ensembl chr 2:91,455,665...91,466,759
JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO RGD PMID:1377725 RGD:8547591 NCBI chr 9:20,927,236...20,940,110
Ensembl chr 9:20,927,281...20,940,113
JBrowse link
G Il2 interleukin 2 ISO RGD PMID:1973607 RGD:8663461 NCBI chr 3:37,174,862...37,180,103
Ensembl chr 3:37,174,672...37,180,108
JBrowse link
G Mmp9 matrix metallopeptidase 9 IMP RGD PMID:9687525 RGD:8547843 NCBI chr 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770
JBrowse link
G Vegfa vascular endothelial growth factor A ISO mRNA:increased expression: : RGD PMID:7738351 RGD:7421578 NCBI chr17:46,327,919...46,343,303
Ensembl chr17:46,327,919...46,343,295
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 chr14:66,206,093...66,218,992
Ensembl chr14:66,205,932...66,218,996
JBrowse link
G H2-Ab1 histocompatibility 2, class II antigen A, beta 1 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 chr17:34,482,201...34,488,392
Ensembl chr17:34,476,663...34,488,393
JBrowse link
G H2-Eb1 histocompatibility 2, class II antigen E beta 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 chr17:34,524,841...34,535,648
Ensembl chr17:34,524,841...34,535,648
JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO protein:increased expression:serum (human) RGD PMID:11448121 RGD:8549794 NCBI chr 2:24,226,872...24,241,503
Ensembl chr 2:24,226,865...24,241,506
JBrowse link
G Ptger3 prostaglandin E receptor 3 (subtype EP3) ISO CTD Direct Evidence: marker/mechanism CTD PMID:21966456 NCBI chr 3:157,272,459...157,350,392
Ensembl chr 3:157,272,529...157,351,525
JBrowse link
G Tnf tumor necrosis factor ISO protein:increased expression:Conjunctiva: RGD PMID:7750940 RGD:7394786 NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983
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 chr 5:134,731,449...134,776,300
Ensembl chr 5:134,731,447...134,776,177
JBrowse link
G Lta lymphotoxin A ISO DNA:polymorphism RGD PMID:7914110 RGD:8548777 NCBI chr17:35,422,141...35,424,568
Ensembl chr17:35,422,141...35,424,327
JBrowse link
G Tnf tumor necrosis factor ISO DNA:polymorphism:promoter RGD PMID:7914110 RGD:8548777 NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983
JBrowse link
G Vegfa vascular endothelial growth factor A ISO mRNA:increased expression: : RGD PMID:7738351 RGD:7421578 NCBI chr17:46,327,919...46,343,303
Ensembl chr17:46,327,919...46,343,295
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 chr 5:135,589,302...135,592,423
Ensembl chr 5:135,589,302...135,592,423
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 ISO ClinVar Annotator: match by term: Epidermolysis bullosa ClinVar PMID:10504458 PMID:16971478 PMID:25741868 PMID:28492532 NCBI chr 9:108,782,654...108,813,943
Ensembl chr 9:108,782,654...108,813,943
JBrowse link
G Exph5 exophilin 5 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:53,212,814...53,292,466
Ensembl chr 9:53,212,970...53,288,814
JBrowse link
G Itga6 integrin alpha 6 ISO ClinVar Annotator: match by term: Epidermolysis bullosa ClinVar PMID:14675179 PMID:25741868 NCBI chr 2:71,617,236...71,688,761
Ensembl chr 2:71,575,960...71,688,760
JBrowse link
G Itgb4 integrin beta 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18348258 NCBI chr11:115,865,556...115,899,238
Ensembl chr11:115,865,535...115,899,238
JBrowse link
G Krt5 keratin 5 ISO ClinVar Annotator: match by term: Epidermolysis bullosa ClinVar PMID:25741868 NCBI chr15:101,615,504...101,621,340
Ensembl chr15:101,615,505...101,621,333
JBrowse link
G Lamb3 laminin, beta 3 ISO ClinVar Annotator: match by term: Epidermolysis bullosa ClinVar PMID:25741868 NCBI chr 1:192,976,661...193,026,186
Ensembl chr 1:192,890,007...193,026,186
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 susceptibility ISO DNA:insertion-deletion
ClinVar Annotator: match by term: Dystrophic epidermolysis bullosa | ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Epidermolysis bullosa dystrophica | ClinVar Annotator: match by term: Hallopeau-Siemens Disease | ClinVar Annotator: match by term: epidermolysis bullosa dystrophica, autosomal recessive
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
RGD
PMID:2425097 PMID:5910871 PMID:7577595 PMID:7695699 PMID:7833933 More... RGD:1600946 NCBI chr 9:108,782,654...108,813,943
Ensembl chr 9:108,782,654...108,813,943
JBrowse link
G Igfbp3 insulin-like growth factor binding protein 3 ISO mRNA,protein:decreased expression:skin: RGD PMID:15140235 RGD:12743601 NCBI chr11:7,156,086...7,165,498
Ensembl chr11:7,156,086...7,163,923
JBrowse link
G Mir711 microRNA 711 ISO ClinVar Annotator: match by term: Epidermolysis bullosa dystrophica ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:108,798,990...108,799,071
Ensembl chr 9:108,798,990...108,799,071
JBrowse link
G Mmp1a matrix metallopeptidase 1a (interstitial collagenase) severity ISO DNA:insertion:promoter:g.-1607_-1606insG (human) RGD PMID:18030675 RGD:8549728 NCBI chr 9:7,464,141...7,476,870
Ensembl chr 9:7,464,141...7,476,857
JBrowse link
G Mmp1b matrix metallopeptidase 1b (interstitial collagenase) severity ISO DNA:insertion:promoter:g.-1607_-1606insG (human)
ClinVar Annotator: match by term: Hallopeau-Siemens Disease
CTD Direct Evidence: marker/mechanism
RGD
ClinVar
CTD
PMID:18030675 PMID:25741868 PMID:28492532 RGD:8549728 NCBI chr 9:7,367,670...7,388,026
Ensembl chr 9:7,368,239...7,388,047
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 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 9:108,782,654...108,813,943
Ensembl chr 9:108,782,654...108,813,943
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 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:8644730 More... NCBI chr 9:108,782,654...108,813,943
Ensembl chr 9:108,782,654...108,813,943
JBrowse link
epidermolysis bullosa simplex term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Itgb4 integrin beta 4 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Cockayne-Touraine type ClinVar PMID:25741868 PMID:28492532 NCBI chr11:115,865,556...115,899,238
Ensembl chr11:115,865,535...115,899,238
JBrowse link
G Krt14 keratin 14 susceptibility ISO
IAGP
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
CTD Direct Evidence: marker/mechanism
OMIM:601001 | OMIM:615425
ClinVar
CTD
MouseDO
RGD
PMID:1717157 PMID:7682883 PMID:8601736 PMID:10583131 PMID:10733662 More... RGD:1600173 NCBI chr11:100,093,988...100,098,336
Ensembl chr11:100,093,988...100,098,374
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 chr15:101,615,504...101,621,340
Ensembl chr15:101,615,505...101,621,333
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO RGD PMID:23894602 RGD:13204851 NCBI chr 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770
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 chr15:76,055,174...76,115,578
Ensembl chr15:76,055,174...76,116,774
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 chr15:101,615,504...101,621,340
Ensembl chr15:101,615,505...101,621,333
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 1:33,946,969...34,347,743
Ensembl chr 1:33,947,306...34,347,742
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 9:53,212,814...53,292,466
Ensembl chr 9:53,212,970...53,288,814
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 chr15:76,055,174...76,115,578
Ensembl chr15:76,055,174...76,116,774
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 chr 8:77,976,995...78,244,628
Ensembl chr 8:77,976,995...78,244,582
JBrowse link
G Bclaf1 BCL2-associated transcription factor 1 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy ClinVar NCBI chr10:20,187,897...20,218,390
Ensembl chr10:20,188,215...20,220,359
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 chr 8:13,305,963...13,337,833
Ensembl chr 8:13,305,963...13,338,131
JBrowse link
G Frem2 Fras1 related extracellular matrix protein 2 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy ClinVar PMID:28492532 NCBI chr 3:53,421,359...53,566,014
Ensembl chr 3:53,421,359...53,564,776
JBrowse link
G Gpr33 G protein-coupled receptor 33 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy ClinVar NCBI chr12:52,069,786...52,074,887
Ensembl chr12:52,069,786...52,074,846
JBrowse link
G Hrnr hornerin ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy ClinVar PMID:25741868 NCBI chr 3:93,227,056...93,240,879
Ensembl chr 3:93,227,056...93,240,877
JBrowse link
G Ids iduronate 2-sulfatase ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy ClinVar NCBI chr  X:69,386,675...69,429,437
Ensembl chr  X:69,386,675...69,408,690
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 chr15:76,055,174...76,115,578
Ensembl chr15:76,055,174...76,116,774
JBrowse link
G Rp1l1 retinitis pigmentosa 1 homolog like 1 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy ClinVar NCBI chr14:64,229,880...64,270,955
Ensembl chr14:64,229,955...64,272,474
JBrowse link
G Tmem249 transmembrane protein 249 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy ClinVar NCBI chr15:76,417,411...76,419,197
Ensembl chr15:76,417,410...76,419,220
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 antigen ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CD151-related condition | ClinVar Annotator: match by term: Epidermolysis bullosa simplex 7, with nephropathy and deafness
OMIM
CTD
ClinVar
PMID:15265795 PMID:25741868 PMID:25741871 PMID:28492532 NCBI chr 7:141,047,275...141,051,394
Ensembl chr 7:141,047,305...141,051,386
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 IAGP
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 chr11:100,093,988...100,098,336
Ensembl chr11:100,093,988...100,098,374
JBrowse link
G Krt5 keratin 5 IAGP
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 chr15:101,615,504...101,621,340
Ensembl chr15:101,615,505...101,621,333
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 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 chr16:19,916,286...19,947,976
Ensembl chr16:19,916,292...19,947,971
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 chr11:100,093,988...100,098,336
Ensembl chr11:100,093,988...100,098,374
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 NCBI chr15:101,615,504...101,621,340
Ensembl chr15:101,615,505...101,621,333
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 beta 4 ISO ClinVar Annotator: match by term: Localized epidermolysis bullosa simplex ClinVar PMID:25741868 PMID:28492532 NCBI chr11:115,865,556...115,899,238
Ensembl chr11:115,865,535...115,899,238
JBrowse link
G Krt14 keratin 14 ISO ClinVar Annotator: match by term: Localized epidermolysis bullosa simplex ClinVar PMID:25741868 PMID:28492532 NCBI chr11:100,093,988...100,098,336
Ensembl chr11:100,093,988...100,098,374
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 chr15:101,615,504...101,621,340
Ensembl chr15:101,615,505...101,621,333
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
IAGP
ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX 5A, OGNA TYPE | ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Ogna type
CTD Direct Evidence: marker/mechanism
OMIM:131950
OMIM
ClinVar
CTD
MouseDO
PMID:9536098 PMID:11851880 PMID:15206692 PMID:15810881 PMID:17576681 More... NCBI chr15:76,055,174...76,115,578
Ensembl chr15:76,055,174...76,116,774
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 chr15:101,615,504...101,621,340
Ensembl chr15:101,615,505...101,621,333
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 2810039B14Rik RIKEN cDNA 2810039B14 gene 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 chr15:75,513,232...75,519,286
Ensembl chr15:75,515,335...75,518,816
JBrowse link
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 chr15:76,460,559...76,480,012
Ensembl chr15:76,460,558...76,480,016
JBrowse link
G Bop1 block of proliferation 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 chr15:76,337,188...76,361,449
Ensembl chr15:76,337,189...76,361,477
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 chr15:75,851,721...75,854,134
Ensembl chr15:75,851,721...75,854,304
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 chr15:76,480,008...76,491,861
Ensembl chr15:76,480,003...76,491,791
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 chr15:76,227,711...76,230,460
Ensembl chr15:76,227,723...76,230,460
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 chr15:74,722,467...74,728,080
Ensembl chr15:74,722,467...74,728,167
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 chr15:76,386,215...76,396,167
Ensembl chr15:76,386,215...76,396,153
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 chr15:75,766,643...75,781,425
Ensembl chr15:75,766,054...75,781,405
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 chr15:75,973,337...76,004,395
Ensembl chr15:75,973,330...76,004,395
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 chr15:76,211,597...76,214,870
Ensembl chr15:76,211,597...76,214,877
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 chr15:75,872,941...75,886,185
Ensembl chr15:75,872,942...75,886,185
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 chr15:76,419,923...76,422,946
Ensembl chr15:76,419,921...76,422,946
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 chr15:76,552,029...76,554,286
Ensembl chr15:76,552,425...76,554,148
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 chr15:75,796,532...75,801,613
Ensembl chr15:75,796,525...75,801,681
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 chr15:74,685,283...74,691,898
Ensembl chr15:74,685,301...74,690,664
JBrowse link
G Gpaa1 GPI anchor attachment 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 chr15:76,215,494...76,219,099
Ensembl chr15:76,215,431...76,219,107
JBrowse link
G Gpihbp1 GPI-anchored HDL-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 chr15:75,468,479...75,470,062
Ensembl chr15:75,468,477...75,471,330
JBrowse link
G Gpt glutamic pyruvic transaminase, soluble ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:28492532 NCBI chr15:76,580,926...76,583,875
Ensembl chr15:76,579,916...76,583,886
JBrowse link
G Grina glutamate receptor, ionotropic, N-methyl D-aspartate-associated protein 1 (glutamate binding) 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 chr15:76,130,917...76,134,109
Ensembl chr15:76,130,964...76,134,104
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 chr15:75,733,990...75,739,257
Ensembl chr15:75,734,176...75,739,257
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 chr15:76,253,064...76,256,056
Ensembl chr15:76,253,098...76,255,637
JBrowse link
G Hsf1 heat shock 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 chr15:76,361,562...76,385,355
Ensembl chr15:76,361,622...76,386,113
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 chr15:76,543,984...76,552,396
Ensembl chr15:76,544,058...76,552,396
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 chr15:74,633,905...74,635,416
Ensembl chr15:74,633,905...74,635,469
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 chr15:74,826,874...74,831,753
Ensembl chr15:74,826,900...74,831,752
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 chr15:75,436,594...75,439,114
Ensembl chr15:75,424,894...75,439,104
JBrowse link
G Lynx1 Ly6/neurotoxin 1 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:28492532 NCBI chr15:74,619,705...74,624,828
Ensembl chr15:74,619,701...74,624,895
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 chr15:74,604,095...74,606,644
Ensembl chr15:74,604,096...74,606,178
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 chr15:76,235,494...76,238,578
Ensembl chr15:76,235,494...76,238,580
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 chr15:75,617,350...75,620,170
Ensembl chr15:75,617,339...75,620,077
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 chr15:75,865,581...75,871,002
Ensembl chr15:75,865,618...75,871,003
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 chr15:76,585,742...76,588,439
Ensembl chr15:76,585,665...76,588,439
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 chr15:76,264,638...76,337,239
Ensembl chr15:76,264,461...76,337,238
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 chr15:75,753,085...75,762,544
Ensembl chr15:75,755,986...75,760,619
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 chr15:75,762,812...75,766,330
Ensembl chr15:75,762,805...75,766,330
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 chr15:75,957,364...75,963,539
Ensembl chr15:75,957,367...75,963,476
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 chr15:76,180,803...76,215,381
Ensembl chr15:76,180,801...76,212,215
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 chr15:76,117,195...76,127,640
Ensembl chr15:76,115,374...76,127,641
JBrowse link
G Plec plectin ISO
IAGP
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
CTD Direct Evidence: marker/mechanism
OMIM:226670
OMIM
ClinVar
CTD
MouseDO
PMID:8696340 PMID:8830774 PMID:8894687 PMID:9536098 PMID:9886273 More... NCBI chr15:76,055,174...76,115,578
Ensembl chr15:76,055,174...76,116,774
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 chr15:76,555,843...76,579,119
Ensembl chr15:76,555,815...76,579,119
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 chr15:75,942,031...75,954,386
Ensembl chr15:75,942,031...75,952,773
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 chr15:75,788,319...75,793,369
Ensembl chr15:75,788,326...75,793,409
JBrowse link
G Recql4 RecQ protein-like 4 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:28492532 NCBI chr15:76,587,753...76,594,820
Ensembl chr15:76,587,753...76,594,748
JBrowse link
G Rhpn1 rhophilin, Rho GTPase 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 chr15:75,576,097...75,586,268
Ensembl chr15:75,576,129...75,587,334
JBrowse link
G Scrib scribbled planar cell polarity 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 chr15:75,919,011...75,941,633
Ensembl chr15:75,919,007...75,941,633
JBrowse link
G Scrt1 scratch family zinc finger 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 chr15:76,400,403...76,406,329
Ensembl chr15:76,400,403...76,406,699
JBrowse link
G Scx scleraxis 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 chr15:76,341,594...76,343,668
Ensembl chr15:76,341,652...76,343,658
JBrowse link
G Sharpin SHANK-associated RH domain interacting 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 chr15:76,231,240...76,235,310
Ensembl chr15:76,231,240...76,235,311
JBrowse link
G Slc39a4 solute carrier family 39 (zinc transporter), 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 chr15:76,496,583...76,501,579
Ensembl chr15:76,496,583...76,501,584
JBrowse link
G Slc52a2 solute carrier protein 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 chr15:76,422,994...76,432,078
Ensembl chr15:76,423,032...76,428,808
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 chr15:74,598,493...74,599,872
Ensembl chr15:74,596,167...74,599,883
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 chr15:76,150,731...76,176,777
Ensembl chr15:76,152,289...76,176,772
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 chr15:75,781,584...75,786,384
Ensembl chr15:75,781,584...75,786,384
JBrowse link
G Tmem249 transmembrane protein 249 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 chr15:76,417,411...76,419,197
Ensembl chr15:76,417,410...76,419,220
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 chr15:76,510,437...76,524,129
Ensembl chr15:76,510,202...76,524,158
JBrowse link
G Top1mt DNA topoisomerase 1, 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 chr15:75,528,878...75,551,184
Ensembl chr15:75,528,884...75,550,649
JBrowse link
G Vps28 vacuolar protein sorting 28 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 chr15:76,506,286...76,510,284
Ensembl chr15:76,506,287...76,510,286
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 chr15:75,626,279...75,713,772
Ensembl chr15:75,626,279...75,713,764
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 chr15:75,486,972...75,501,676
Ensembl chr15:75,488,528...75,501,676
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 chr15:75,812,798...75,821,251
Ensembl chr15:75,812,801...75,821,249
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 chr15:75,840,972...75,847,717
Ensembl chr15:75,840,972...75,847,717
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 chr15:76,527,586...76,541,120
Ensembl chr15:76,531,127...76,541,120
Ensembl chr15:76,531,127...76,541,120
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 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 9:108,782,654...108,813,943
Ensembl chr 9:108,782,654...108,813,943
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:12101406 More... NCBI chr13:38,335,357...38,382,553
Ensembl chr13:38,335,270...38,382,553
JBrowse link
erythema multiforme term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd40 CD40 antigen ISO RGD PMID:18050371 RGD:8547765 NCBI chr 2:164,897,535...164,913,574
Ensembl chr 2:164,897,547...164,914,868
JBrowse link
G Cd40lg CD40 ligand ISO RGD PMID:18050371 RGD:8547765 NCBI chr  X:56,257,448...56,269,402
Ensembl chr  X:56,257,503...56,269,402
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 6:71,350,411...71,356,155
Ensembl chr 6:71,350,411...71,356,157
JBrowse link
G H2-Ab1 histocompatibility 2, class II antigen A, beta 1 ISO DNA:polymorphisms (human) RGD PMID:9627123 RGD:5147868 NCBI chr17:34,482,201...34,488,392
Ensembl chr17:34,476,663...34,488,393
JBrowse link
G Masp2 MBL associated serine protease 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12904520 NCBI chr 4:148,679,079...148,699,939
Ensembl chr 4:148,687,011...148,699,956
JBrowse link
G Vegfa vascular endothelial growth factor A ISO mRNA:increased expression: : RGD PMID:7738351 RGD:7421578 NCBI chr17:46,327,919...46,343,303
Ensembl chr17:46,327,919...46,343,295
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 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 chr16:19,916,286...19,947,976
Ensembl chr16:19,916,292...19,947,971
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 chr11:100,093,988...100,098,336
Ensembl chr11:100,093,988...100,098,374
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 NCBI chr15:101,615,504...101,621,340
Ensembl chr15:101,615,505...101,621,333
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 1:33,946,969...34,347,743
Ensembl chr 1:33,947,306...34,347,742
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 chr11:100,093,988...100,098,336
Ensembl chr11:100,093,988...100,098,374
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 NCBI chr15:101,615,504...101,621,340
Ensembl chr15:101,615,505...101,621,333
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 chr15:101,615,504...101,621,340
Ensembl chr15:101,615,505...101,621,333
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 chr15:101,615,504...101,621,340
Ensembl chr15:101,615,505...101,621,333
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 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 chr16:19,916,286...19,947,976
Ensembl chr16:19,916,292...19,947,971
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 chr11:100,093,988...100,098,336
Ensembl chr11:100,093,988...100,098,374
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 chr15:101,615,504...101,621,340
Ensembl chr15:101,615,505...101,621,333
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 chr15:101,615,504...101,621,340
Ensembl chr15:101,615,505...101,621,333
JBrowse link
Hailey-Hailey disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp2c1 ATPase, Ca++-sequestering 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:11874499 More... NCBI chr 9:105,288,561...105,398,456
Ensembl chr 9:105,280,738...105,404,518
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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: DSC3-related condition | ClinVar Annotator: match by term: Hypotrichosis and recurrent skin vesicles
OMIM
CTD
ClinVar
PMID:19765682 PMID:25741868 PMID:31790667 NCBI chr18:20,093,987...20,135,465
Ensembl chr18:20,093,987...20,135,408
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 susceptibility ISO
IAGP
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 chr19:47,634,783...47,680,460
Ensembl chr19:47,634,783...47,680,533
JBrowse link
G Galk1 galactokinase 1 ISO ClinVar Annotator: match by term: Junctional epidermolysis bullosa ClinVar PMID:9792864 PMID:11886501 NCBI chr11:115,899,183...115,903,545
Ensembl chr11:115,899,283...115,903,545
JBrowse link
G Itga6 integrin 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 2:71,617,236...71,688,761
Ensembl chr 2:71,575,960...71,688,760
JBrowse link
G Itgb4 integrin beta 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Junctional epidermolysis bullosa
CTD
ClinVar
PMID:7545057 PMID:9792864 PMID:11886501 NCBI chr11:115,865,556...115,899,238
Ensembl chr11:115,865,535...115,899,238
JBrowse link
G Lama3 laminin, alpha 3 ISO
IAGP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Junctional epidermolysis bullosa
CTD
ClinVar
MouseDO
PMID:9536098 PMID:10366601 PMID:11810295 PMID:11907499 PMID:12915477 More... NCBI chr18:12,466,806...12,716,070
Ensembl chr18:12,466,876...12,716,070
JBrowse link
G Lamb3 laminin, 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 chr 1:192,976,661...193,026,186
Ensembl chr 1:192,890,007...193,026,186
JBrowse link
G Lamc2 laminin, 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:11810295 PMID:11907499 PMID:15370542 More... RGD:1600210 NCBI chr 1:152,998,502...153,062,193
Ensembl chr 1:152,998,502...153,062,193
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 ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 1A, INTERMEDIATE ClinVar PMID:9583744 PMID:10636730 PMID:11406649 PMID:14614394 PMID:16199547 More... NCBI chr19:47,634,783...47,680,460
Ensembl chr19:47,634,783...47,680,533
JBrowse link
G Lama3 laminin, 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 chr18:12,466,806...12,716,070
Ensembl chr18:12,466,876...12,716,070
JBrowse link
G Lamb3 laminin, 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 chr 1:192,976,661...193,026,186
Ensembl chr 1:192,890,007...193,026,186
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, 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 chr18:12,466,806...12,716,070
Ensembl chr18:12,466,876...12,716,070
JBrowse link
G Lamb3 laminin, 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 chr 1:192,976,661...193,026,186
Ensembl chr 1:192,890,007...193,026,186
JBrowse link
G Lamc2 laminin, 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 chr 1:152,998,502...153,062,193
Ensembl chr 1:152,998,502...153,062,193
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, 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 chr18:12,466,806...12,716,070
Ensembl chr18:12,466,876...12,716,070
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, 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 chr18:12,466,806...12,716,070
Ensembl chr18:12,466,876...12,716,070
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, 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 chr18:12,466,806...12,716,070
Ensembl chr18:12,466,876...12,716,070
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, gamma 2 ISO ClinVar Annotator: match by term: Epidermolysis bullosa, junctional 3A, intermediate | ClinVar Annotator: match by term: LAMC2-related condition OMIM
ClinVar
PMID:11564184 PMID:11810295 PMID:11907499 PMID:15538630 PMID:16199547 More... NCBI chr 1:152,998,502...153,062,193
Ensembl chr 1:152,998,502...153,062,193
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, gamma 2 ISO ClinVar Annotator: match by term: Epidermolysis bullosa, junctional 3B, severe OMIM
ClinVar
PMID:7849725 PMID:8012114 PMID:8012393 PMID:8012394 PMID:8824879 More... NCBI chr 1:152,998,502...153,062,193
Ensembl chr 1:152,998,502...153,062,193
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 ISO ClinVar Annotator: match by term: COL17A1-related condition | ClinVar Annotator: match by term: Epidermolysis bullosa, junctional 4, intermediate OMIM
ClinVar
PMID:7092249 PMID:7550320 PMID:8618019 PMID:9012408 PMID:9077475 More... NCBI chr19:47,634,783...47,680,460
Ensembl chr19:47,634,783...47,680,533
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 chr11:115,899,183...115,903,545
Ensembl chr11:115,899,283...115,903,545
JBrowse link
G Itgb4 integrin 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 chr11:115,865,556...115,899,238
Ensembl chr11:115,865,535...115,899,238
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 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:25741868 PMID:25810266 More... NCBI chr11:94,935,301...94,967,637
Ensembl chr11:94,935,300...94,967,627
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 alpha 6 IAGP OMIM:226700 MouseDO NCBI chr 2:71,617,236...71,688,761
Ensembl chr 2:71,575,960...71,688,760
JBrowse link
G Lama3 laminin, 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 chr18:12,466,806...12,716,070
Ensembl chr18:12,466,876...12,716,070
JBrowse link
G Lamb3 laminin, beta 3 IAGP
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 chr 1:192,976,661...193,026,186
Ensembl chr 1:192,890,007...193,026,186
JBrowse link
G Lamc2 laminin, gamma 2 IAGP
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 chr 1:152,998,502...153,062,193
Ensembl chr 1:152,998,502...153,062,193
JBrowse link
G Slc2a1 solute carrier family 2 (facilitated glucose transporter), 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 4:118,966,001...118,994,527
Ensembl chr 4:118,965,908...118,995,180
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 ISO
IAGP
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 chr19:47,634,783...47,680,460
Ensembl chr19:47,634,783...47,680,533
JBrowse link
G Galk1 galactokinase 1 ISO ClinVar Annotator: match by term: Junctional epidermolysis bullosa, non-Herlitz type ClinVar PMID:25741868 PMID:28492532 NCBI chr11:115,899,183...115,903,545
Ensembl chr11:115,899,283...115,903,545
JBrowse link
G Itgb4 integrin beta 4 IAGP
ISO
OMIM:226650
ClinVar Annotator: match by term: Junctional epidermolysis bullosa, non-Herlitz type
MouseDO
ClinVar
PMID:25741868 PMID:28492532 NCBI chr11:115,865,556...115,899,238
Ensembl chr11:115,865,535...115,899,238
JBrowse link
G Lama3 laminin, alpha 3 IAGP
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 chr18:12,466,806...12,716,070
Ensembl chr18:12,466,876...12,716,070
JBrowse link
G Lamb3 laminin, beta 3 IAGP
ISO
OMIM:226650
ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA JUNCTIONALIS, SEVERE NONLETHAL | ClinVar Annotator: match by term: Epidermolysis bullosa junctionalis, disentis type | ClinVar Annotator: match by term: Junctional epidermolysis bullosa, non-Herlitz type
CTD Direct Evidence: marker/mechanism
MouseDO
ClinVar
CTD
PMID:7550237 PMID:7698759 PMID:7706760 PMID:8824879 PMID:8983017 More... NCBI chr 1:192,976,661...193,026,186
Ensembl chr 1:192,890,007...193,026,186
JBrowse link
G Lamc2 laminin, gamma 2 ISO
IAGP
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 NCBI chr 1:152,998,502...153,062,193
Ensembl chr 1:152,998,502...153,062,193
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 chr11:115,899,183...115,903,545
Ensembl chr11:115,899,283...115,903,545
JBrowse link
G Itga6 integrin 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: ITGB4-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 2:71,617,236...71,688,761
Ensembl chr 2:71,575,960...71,688,760
JBrowse link
G Itgb4 integrin beta 4 ISO
IAGP
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 chr11:115,865,556...115,899,238
Ensembl chr11:115,865,535...115,899,238
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 9:80,072,262...80,219,011
Ensembl chr 9:80,072,313...80,219,011
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 chr15:76,055,174...76,115,578
Ensembl chr15:76,055,174...76,116,774
JBrowse link
Kindler syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fermt1 fermitin family member 1 IAGP
ISO
OMIM:173650
ClinVar Annotator: match by term: FERMT1-related condition | ClinVar Annotator: match by term: Kindler syndrome
CTD Direct Evidence: marker/mechanism
MouseDO
ClinVar
CTD
OMIM
PMID:12668616 PMID:12789646 PMID:14507403 PMID:14962093 PMID:15313809 More... NCBI chr 2:132,746,097...132,787,956
Ensembl chr 2:132,746,309...132,787,826
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 chr11:115,899,183...115,903,545
Ensembl chr11:115,899,283...115,903,545
JBrowse link
G Itgb4 integrin beta 4 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 1C, localized ClinVar PMID:11328943 PMID:16473856 PMID:25741868 PMID:28492532 NCBI chr11:115,865,556...115,899,238
Ensembl chr11:115,865,535...115,899,238
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 chr11:100,093,988...100,098,336
Ensembl chr11:100,093,988...100,098,374
JBrowse link
G Krt5 keratin 5 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 1C, localized ClinVar PMID:7520042 PMID:7537780 PMID:7688477 PMID:8807337 PMID:9036937 More... NCBI chr15:101,615,504...101,621,340
Ensembl chr15:101,615,505...101,621,333
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 chr15:101,615,504...101,621,340
Ensembl chr15:101,615,505...101,621,333
JBrowse link
pemphigus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C3 complement component 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:74171 NCBI chr17:57,510,967...57,535,136
Ensembl chr17:57,510,970...57,535,136
JBrowse link
G Cast calpastatin ISO RGD PMID:16314468 RGD:5509814 NCBI chr13:74,840,485...74,956,993
Ensembl chr13:74,840,487...74,956,929
JBrowse link
G Cat catalase ISO protein:increased activities:skin: RGD PMID:22738420 RGD:9479165 NCBI chr 2:103,284,249...103,315,498
Ensembl chr 2:103,284,194...103,315,505
JBrowse link
G Cd36 CD36 molecule ISO RGD PMID:21255096 RGD:5490304 NCBI chr 5:17,986,680...18,093,828
Ensembl chr 5:17,986,688...18,093,799
JBrowse link
G Cd40 CD40 antigen ISO RGD PMID:21255096 RGD:5490304 NCBI chr 2:164,897,535...164,913,574
Ensembl chr 2:164,897,547...164,914,868
JBrowse link
G Cd40lg CD40 ligand ISO mRNA, protein:increased expression:skin, serum RGD PMID:17531537 RGD:8547773 NCBI chr  X:56,257,448...56,269,402
Ensembl chr  X:56,257,503...56,269,402
JBrowse link
G H2-Aa histocompatibility 2, class II antigen A, alpha ISO DNA:polymorphisms:cds:HLA-DQA1*0104, HLA-DQA1*03011 (human) RGD PMID:18780165 RGD:5147619 NCBI chr17:34,501,718...34,506,797
Ensembl chr17:34,501,718...34,506,797
JBrowse link
G H2-Ab1 histocompatibility 2, class II antigen A, beta 1 ISO DNA:polymorphisms:cds:HLA-DQB1*0302, HLA-DQB1*0502 (human) RGD PMID:18780165 RGD:5147619 NCBI chr17:34,482,201...34,488,392
Ensembl chr17:34,476,663...34,488,393
JBrowse link
G H2-Eb1 histocompatibility 2, class II antigen E beta 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 chr17:34,524,841...34,535,648
Ensembl chr17:34,524,841...34,535,648
JBrowse link
G Il2 interleukin 2 ISO RGD PMID:6432916 RGD:8693324 NCBI chr 3:37,174,862...37,180,103
Ensembl chr 3:37,174,672...37,180,108
JBrowse link
G Mbl2 mannose-binding lectin (protein C) 2 ISO protein:increased expression:skin: RGD PMID:21327568 RGD:8693728 NCBI chr19:30,210,306...30,217,087
Ensembl chr19:30,210,342...30,217,087
JBrowse link
pemphigus vulgaris term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dsg3 desmoglein 3 IAGP OMIM:169610 MouseDO NCBI chr18:20,643,331...20,674,367
Ensembl chr18:20,643,331...20,680,516
JBrowse link
G H2-Ab1 histocompatibility 2, class II antigen A, beta 1 ISO RGD PMID:28197992 RGD:14747041 NCBI chr17:34,482,201...34,488,392
Ensembl chr17:34,476,663...34,488,393
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 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 9:108,782,654...108,813,943
Ensembl chr 9:108,782,654...108,813,943
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 IAGP
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 9:108,782,654...108,813,943
Ensembl chr 9:108,782,654...108,813,943
JBrowse link
G Grip1 glutamate receptor interacting protein 1 IAGP OMIM:226600 MouseDO NCBI chr10:119,289,810...119,923,172
Ensembl chr10:119,289,735...119,923,166
JBrowse link
G Mir711 microRNA 711 ISO ClinVar Annotator: match by term: Epidermolysis bullosa dystrophica inversa, autosomal recessive ClinVar PMID:28492532 NCBI chr 9:108,798,990...108,799,071
Ensembl chr 9:108,798,990...108,799,071
JBrowse link
G Mmp1b matrix metallopeptidase 1b (interstitial collagenase) ISO ClinVar Annotator: match by term: Recessive dystrophic epidermolysis bullosa ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:7,367,670...7,388,026
Ensembl chr 9:7,368,239...7,388,047
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 chr 5:90,608,729...90,624,461
Ensembl chr 5:90,608,756...90,624,461
JBrowse link
G Apcs amyloid P component, serum ISO CTD Direct Evidence: marker/mechanism CTD PMID:34142820 NCBI chr 1:172,721,528...172,722,516
Ensembl chr 1:172,721,528...172,722,608
JBrowse link
G C1qa complement component 1, q subcomponent, alpha polypeptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:34142820 NCBI chr 4:136,623,227...136,626,155
Ensembl chr 4:136,623,228...136,626,114
JBrowse link
G C1qc complement component 1, q subcomponent, C chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:34142820 NCBI chr 4:136,617,115...136,620,225
Ensembl chr 4:136,617,115...136,620,376
JBrowse link
G Cav1 caveolin 1, caveolae protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 6:17,306,387...17,341,323
Ensembl chr 6:17,306,334...17,341,451
JBrowse link
G Celf2 CUGBP, Elav-like family member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 2:6,544,505...7,401,345
Ensembl chr 2:6,544,505...7,514,374
JBrowse link
G Cfhr1 complement factor H-related 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34142820 NCBI chr 1:139,474,802...139,487,960
Ensembl chr 1:139,474,791...139,488,010
JBrowse link
G Cfp complement factor properdin ISO CTD Direct Evidence: marker/mechanism CTD PMID:34142820 NCBI chr  X:20,791,693...20,797,794
Ensembl chr  X:20,791,693...20,797,794
JBrowse link
G Clu clusterin ISO mRNA:decreased expression:conjunctiva RGD PMID:12036968 RGD:8699507 NCBI chr14:66,206,093...66,218,992
Ensembl chr14:66,205,932...66,218,996
JBrowse link
G Cops5 COP9 signalosome subunit 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 1:10,094,825...10,108,384
Ensembl chr 1:10,094,826...10,108,393
JBrowse link
G Crp C-reactive protein, pentraxin-related ISO CTD Direct Evidence: marker/mechanism CTD PMID:34142820 NCBI chr 1:172,525,623...172,527,533
Ensembl chr 1:172,525,622...172,660,598
JBrowse link
G Csf3 colony stimulating factor 3 (granulocyte) ISO CTD Direct Evidence: therapeutic CTD PMID:11321886 NCBI chr11:98,591,287...98,594,457
Ensembl chr11:98,592,089...98,594,455
JBrowse link
G Ctnnb1 catenin beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 9:120,762,466...120,789,573
Ensembl chr 9:120,758,282...120,789,573
JBrowse link
G Cul1 cullin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 6:47,430,516...47,503,078
Ensembl chr 6:47,430,332...47,503,073
JBrowse link
G Cul4a cullin 4A ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 8:13,155,623...13,197,940
Ensembl chr 8:13,155,621...13,197,940
JBrowse link
G Derl1 Der1-like domain family, member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr15:57,732,898...57,755,814
Ensembl chr15:57,732,898...57,755,844
JBrowse link
G Elmo1 engulfment and cell motility 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr13:20,274,677...20,792,523
Ensembl chr13:20,274,766...20,792,523
JBrowse link
G Ep300 E1A binding protein p300 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr15:81,470,329...81,536,273
Ensembl chr15:81,469,552...81,536,278
JBrowse link
G Fbxo6 F-box protein 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 4:148,230,173...148,236,592
Ensembl chr 4:148,230,173...148,236,597
JBrowse link
G Gstm1 glutathione S-transferase, mu 1 ISO RGD PMID:28689274 RGD:14700974 NCBI chr 3:107,919,566...107,925,289
Ensembl chr 3:107,919,571...107,925,289
JBrowse link
G H2-Ab1 histocompatibility 2, class II antigen A, beta 1 susceptibility ISO DNA:polymorphism:cds:HLA-DQB1*0601 (human) RGD PMID:8841298 RGD:7483570 NCBI chr17:34,482,201...34,488,392
Ensembl chr17:34,476,663...34,488,393
JBrowse link
G H2-M2 histocompatibility 2, M region locus 2 susceptibility ISO CTD Direct Evidence: marker/mechanism
DNA:polymorphisms:cds:HLA-B*15:02, HLA-B*40:01, HLA-B*58:02 (human)
CTD
RGD
PMID:15057820 PMID:15743917 PMID:16538176 PMID:18855540 PMID:19694795 More... RGD:7365090 NCBI chr17:37,791,742...37,794,445
Ensembl chr17:37,791,742...37,794,443
JBrowse link
G H2-Q1 histocompatibility 2, Q region locus 1 susceptibility ISO ClinVar Annotator: match by term: Hypersensitivity syndrome, carbamazepine-induced, susceptibility to
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:16538176 PMID:21428769 PMID:23588310 NCBI chr17:35,539,503...35,547,118
Ensembl chr17:35,539,381...35,544,075
JBrowse link
G H2-Q4 histocompatibility 2, Q region locus 4 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 chr17:35,598,593...35,603,650
Ensembl chr17:35,598,593...35,604,266
JBrowse link
G Ifng interferon gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr10:118,276,951...118,281,799
Ensembl chr10:118,276,951...118,281,797
JBrowse link
G Lbp lipopolysaccharide binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:34142820 NCBI chr 2:158,148,413...158,174,772
Ensembl chr 2:158,148,413...158,174,772
JBrowse link
G Lrg1 leucine-rich alpha-2-glycoprotein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34142820 NCBI chr17:56,426,678...56,428,946
Ensembl chr17:56,426,678...56,429,001
JBrowse link
G Mif macrophage migration inhibitory factor (glycosylation-inhibiting factor) ISO CTD Direct Evidence: marker/mechanism CTD PMID:9372356 NCBI chr10:75,695,187...75,696,111
Ensembl chr10:75,695,187...75,696,074
JBrowse link
G Mir18 microRNA 18 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34142820 NCBI chr14:115,281,283...115,281,378
Ensembl chr14:115,281,283...115,281,378
JBrowse link
G Nedd4 neural precursor cell expressed, developmentally down-regulated 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 9:72,569,613...72,657,133
Ensembl chr 9:72,569,628...72,657,134
JBrowse link
G Nfkbiz nuclear factor of kappa light polypeptide gene enhancer in B cells inhibitor, zeta IAGP MouseDO NCBI chr16:55,631,740...55,659,018
Ensembl chr16:55,631,738...55,659,262
JBrowse link
G Nos2 nitric oxide synthase 2, inducible ISO CTD Direct Evidence: marker/mechanism CTD PMID:10620138 NCBI chr11:78,811,613...78,851,052
Ensembl chr11:78,811,613...78,851,080
JBrowse link
G Nucb1 nucleobindin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 7:45,142,300...45,159,813
Ensembl chr 7:45,139,882...45,159,830
JBrowse link
G Orm1 orosomucoid 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34142820 NCBI chr 4:63,262,793...63,266,400
Ensembl chr 4:63,262,797...63,266,400
JBrowse link
G Orm2 orosomucoid 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34142820 NCBI chr 4:63,280,543...63,284,114
Ensembl chr 4:63,280,686...63,284,115
JBrowse link
G Parp1 poly (ADP-ribose) polymerase family, member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 1:180,396,456...180,428,564
Ensembl chr 1:180,396,489...180,428,819
JBrowse link
G Pml promyelocytic leukemia ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 9:58,125,359...58,157,077
Ensembl chr 9:58,125,359...58,157,069
JBrowse link
G Pros1 protein S (alpha) ISO CTD Direct Evidence: marker/mechanism CTD PMID:34142820 NCBI chr16:62,674,670...62,749,709
Ensembl chr16:62,674,670...62,749,709
JBrowse link
G Psmc5 protease (prosome, macropain) 26S subunit, ATPase 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr11:106,147,011...106,153,938
Ensembl chr11:106,146,980...106,153,946
JBrowse link
G Ptger3 prostaglandin E receptor 3 (subtype EP3) ISO CTD Direct Evidence: marker/mechanism CTD PMID:21966456 NCBI chr 3:157,272,459...157,350,392
Ensembl chr 3:157,272,529...157,351,525
JBrowse link
G Ptgis prostaglandin I2 (prostacyclin) synthase ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 2:167,045,114...167,095,069
Ensembl chr 2:167,033,725...167,082,524
JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr14:73,430,298...73,563,446
Ensembl chr14:73,421,113...73,563,262
JBrowse link
G Rbx1 ring-box 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr15:81,350,517...81,360,570
Ensembl chr15:81,350,497...81,360,570
JBrowse link
G Tnf tumor necrosis factor ISO protein:increased expression:blister: RGD PMID:9852250 RGD:7401184 NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983
JBrowse link
G Vcp valosin containing protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 4:42,979,964...43,000,507
Ensembl chr 4:42,979,963...43,000,507
JBrowse link
G Vwf Von Willebrand factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:34142820 NCBI chr 6:125,529,911...125,663,642
Ensembl chr 6:125,523,737...125,663,642
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 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 9:108,782,654...108,813,943
Ensembl chr 9:108,782,654...108,813,943
JBrowse link
vesiculobullous skin disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fermt1 fermitin family member 1 ISO Kindler syndrome, OMIM:173650 RGD PMID:12668616 RGD:1600405 NCBI chr 2:132,746,097...132,787,956
Ensembl chr 2:132,746,309...132,787,826
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16269
    sensory system disease 7186
      skin disease 4180
        dermatitis 531
          bullous skin disease 170
            pemphigoid + 14
            pemphigus + 13
            subcorneal pustular dermatosis 0
            vesiculobullous skin disease + 156
Path 2
Term Annotations click to browse term
  disease 16269
    Pathological Conditions, Signs and Symptoms 12654
      Signs and Symptoms 10542
        Neurologic Manifestations 10199
          sensory system disease 7186
            skin disease 4180
              dermatitis 531
                bullous skin disease 170
                  pemphigoid + 14
                  pemphigus + 13
                  subcorneal pustular dermatosis 0
                  vesiculobullous skin disease + 156
paths to the root