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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 HR lysine demethylase and nuclear receptor corepressor ISO ClinVar Annotator: match by term: Atrichia with papular lesions | ClinVar Annotator: match by term: Papular Atrichia OMIM
ClinVar
PMID:8790387 PMID:9445480 PMID:9736769 PMID:9758627 PMID:9856480 More... NCBI chrNW_004955403:45,605,870...45,624,386
Ensembl chrNW_004955403:45,605,510...45,624,402
JBrowse link
G Odc1 ornithine decarboxylase 1 ISO OMIM:209500 MouseDO NCBI chrNW_004955487:5,603,722...5,608,386
Ensembl chrNW_004955487:5,603,722...5,608,386
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 OMIM
ClinVar
PMID:1680286 PMID:2425097 PMID:5910871 PMID:7577595 PMID:7695699 More... NCBI chrNW_004955532:650,913...681,186 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 chrNW_004955506:6,493,466...6,526,778
Ensembl chrNW_004955506:6,493,466...6,526,778
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 chrNW_004955547:2,926,154...2,931,954
Ensembl chrNW_004955547:2,773,523...2,932,609
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 chrNW_004955487:5,180,241...5,218,298
Ensembl chrNW_004955487:5,180,252...5,218,216
JBrowse link
G Anxa1 annexin A1 ISO associated with Hypersensitivity, Delayed;protein:increased expression:mononuclear cell RGD PMID:10331485 RGD:7421575 NCBI chrNW_004955512:5,686,508...5,703,645 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 ClinVar
OMIM
PMID:25741868 PMID:30528827 NCBI chrNW_004955402:18,781,511...18,811,675
Ensembl chrNW_004955402:18,790,243...18,810,305
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 chrNW_004955456:14,554,583...14,558,967 JBrowse link
G Cfb complement factor B ISO RGD PMID:17024247 RGD:7421522 NCBI chrNW_004955437:461,235...466,908
Ensembl chrNW_004955437:461,235...470,464
JBrowse link
G Cxcl8 C-X-C motif chemokine ligand 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11359455 NCBI chrNW_004955474:247,326...250,355
Ensembl chrNW_004955474:241,501...250,643
JBrowse link
G F2 coagulation factor II, thrombin ISO protein:increased expression:plasma RGD PMID:21488867 RGD:5147756 NCBI chrNW_004955422:1,356,675...1,367,788
Ensembl chrNW_004955422:1,356,769...1,367,517
JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO RGD PMID:1377725 RGD:8547591 NCBI chrNW_004955495:1,561,464...1,573,282
Ensembl chrNW_004955495:1,561,714...1,574,755
JBrowse link
G Il2 interleukin 2 ISO RGD PMID:1973607 RGD:8663461 NCBI chrNW_004955428:18,163,010...18,168,157
Ensembl chrNW_004955428:18,162,467...18,168,265
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO RGD PMID:9687525 RGD:8547843 NCBI chrNW_004955445:11,295,500...11,303,322
Ensembl chrNW_004955445:11,295,448...11,303,288
JBrowse link
G Vegfa vascular endothelial growth factor A ISO mRNA:increased expression: : RGD PMID:7738351 RGD:7421578 NCBI chrNW_004955437:9,527,445...9,541,908 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 chrNW_004955403:50,160,598...50,175,876
Ensembl chrNW_004955403:50,160,598...50,175,876
JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO protein:increased expression:serum (human) RGD PMID:11448121 RGD:8549794 NCBI chrNW_004955470:1,145,022...1,159,413
Ensembl chrNW_004955470:1,144,810...1,159,471
JBrowse link
G Ptger3 prostaglandin E receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21966456 NCBI chrNW_004955423:21,096,926...21,164,435 JBrowse link
G Tnf tumor necrosis factor ISO protein:increased expression:Conjunctiva: RGD PMID:7750940 RGD:7394786 NCBI chrNW_004955437:117,267...119,899
Ensembl chrNW_004955437:117,206...120,700
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 chrNW_004955456:13,788,992...13,818,836 JBrowse link
G Lta lymphotoxin alpha ISO DNA:polymorphism RGD PMID:7914110 RGD:8548777 NCBI chrNW_004955437:114,216...116,003
Ensembl chrNW_004955437:114,640...115,529
JBrowse link
G Tnf tumor necrosis factor ISO DNA:polymorphism:promoter RGD PMID:7914110 RGD:8548777 NCBI chrNW_004955437:117,267...119,899
Ensembl chrNW_004955437:117,206...120,700
JBrowse link
G Vegfa vascular endothelial growth factor A ISO mRNA:increased expression: : RGD PMID:7738351 RGD:7421578 NCBI chrNW_004955437:9,527,445...9,541,908 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 chrNW_004955456:14,554,583...14,558,967 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 chrNW_004955532:650,913...681,186 JBrowse link
G Exph5 exophilin 5 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004955412:10,604,853...10,674,683
Ensembl chrNW_004955412:10,604,772...10,674,749
JBrowse link
G Itga6 integrin subunit alpha 6 ISO ClinVar Annotator: match by term: Epidermolysis bullosa ClinVar PMID:14675179 PMID:25741868 NCBI chrNW_004955449:2,590,982...2,665,887
Ensembl chrNW_004955449:2,590,982...2,665,887
JBrowse link
G Itgb4 integrin subunit beta 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18348258 NCBI chrNW_004955506:6,493,466...6,526,778
Ensembl chrNW_004955506:6,493,466...6,526,778
JBrowse link
G Krt5 keratin 5 ISO ClinVar Annotator: match by term: Epidermolysis bullosa ClinVar PMID:25741868 NCBI chrNW_004955547:2,926,154...2,931,954
Ensembl chrNW_004955547:2,773,523...2,932,609
JBrowse link
G Lamb3 laminin subunit beta 3 ISO ClinVar Annotator: match by term: Epidermolysis bullosa ClinVar PMID:25741868 NCBI chrNW_004955489:2,547,611...2,603,079
Ensembl chrNW_004955489:2,568,650...2,607,595
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 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
DNA:insertion-deletion
OMIM
ClinVar
RGD
PMID:2425097 PMID:5910871 PMID:7577595 PMID:7695699 PMID:7833933 More... RGD:1600946 NCBI chrNW_004955532:650,913...681,186 JBrowse link
G Igfbp3 insulin like growth factor binding protein 3 ISO mRNA,protein:decreased expression:skin: RGD PMID:15140235 RGD:12743601 NCBI chrNW_004955456:6,795,560...6,802,147
Ensembl chrNW_004955456:6,795,604...6,800,845
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 chrNW_004955532:650,913...681,186 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 OMIM
ClinVar
PMID:7695699 PMID:7833933 PMID:8088783 PMID:8218237 PMID:8644730 More... NCBI chrNW_004955532:650,913...681,186 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 chrNW_004955506:6,493,466...6,526,778
Ensembl chrNW_004955506:6,493,466...6,526,778
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
RGD
ClinVar
PMID:421361 PMID:1049409 PMID:1372711 PMID:1718160 PMID:2476664 More... RGD:1600195 NCBI chrNW_004955547:2,926,154...2,931,954
Ensembl chrNW_004955547:2,773,523...2,932,609
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO RGD PMID:23894602 RGD:13204851 NCBI chrNW_004955445:11,295,500...11,303,322
Ensembl chrNW_004955445:11,295,448...11,303,288
JBrowse link
G Plec plectin ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex ClinVar PMID:11851880 PMID:23289980 PMID:25741868 PMID:28492532 NCBI chrNW_004955454:2,583,138...2,644,308
Ensembl chrNW_004955454:2,583,138...2,643,211
JBrowse link
Epidermolysis Bullosa Simplex 2E with Migratory Circinate Erythema term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt5 keratin 5 ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX 2E, WITH MIGRATORY CIRCINATE ERYTHEMA | ClinVar Annotator: match by term: Epidermolysis bullosa simplex with migratory circinate erythema OMIM
ClinVar
PMID:7520042 PMID:8807337 PMID:9036937 PMID:12925204 PMID:15324323 More... NCBI chrNW_004955547:2,926,154...2,931,954
Ensembl chrNW_004955547:2,773,523...2,932,609
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 chrNW_004955502:3,175,918...3,610,823
Ensembl chrNW_004955502:3,267,527...3,610,823
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 chrNW_004955412:10,604,853...10,674,683
Ensembl chrNW_004955412:10,604,772...10,674,749
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 OMIM
ClinVar
PMID:9536098 PMID:11851880 PMID:14675180 PMID:15206692 PMID:15654962 More... NCBI chrNW_004955454:2,583,138...2,644,308
Ensembl chrNW_004955454:2,583,138...2,643,211
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 chrNW_004955471:2,757,063...3,052,565
Ensembl chrNW_004955471:2,804,162...3,052,565
JBrowse link
G Bclaf1 BCL2 associated transcription factor 1 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy ClinVar NCBI chrNW_004955439:608,849...641,005
Ensembl chrNW_004955439:608,861...641,005
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 chrNW_004955404:463,238...491,385
Ensembl chrNW_004955404:463,238...493,047
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 chrNW_004955431:7,364,937...7,541,419
Ensembl chrNW_004955431:7,364,937...7,541,648
JBrowse link
G Gpr33 G protein-coupled receptor 33 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy ClinVar NCBI chrNW_004955409:29,124,200...29,130,823
Ensembl chrNW_004955409:29,124,200...29,130,823
JBrowse link
G Ids iduronate 2-sulfatase ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy ClinVar NCBI chrNW_004955498:1,863,002...1,886,720
Ensembl chrNW_004955498:1,860,628...1,886,867
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 chrNW_004955454:2,583,138...2,644,308
Ensembl chrNW_004955454:2,583,138...2,643,211
JBrowse link
G Rp1l1 RP1 like 1 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy ClinVar NCBI chrNW_004955403:52,180,612...52,200,569 JBrowse link
G Tmem249 transmembrane protein 249 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy ClinVar NCBI chrNW_004955454:2,974,713...2,976,454 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 OMIM
ClinVar
PMID:15265795 PMID:25741868 PMID:25741871 PMID:28492532 NCBI chrNW_004955476:11,294,359...11,298,990
Ensembl chrNW_004955476:11,294,359...11,337,825
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 Krt5 keratin 5 ISO ClinVar Annotator: match by term: Epidermolysis bullosa herpetiformis, Dowling-Meara | ClinVar Annotator: match by term: Epidermolysis bullosa simplex Dowling-Meara type ClinVar PMID:7520042 PMID:8807337 PMID:9036937 PMID:16098032 PMID:16601668 More... NCBI chrNW_004955547:2,926,154...2,931,954
Ensembl chrNW_004955547:2,773,523...2,932,609
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 chrNW_004955420:23,700,030...23,733,021
Ensembl chrNW_004955420:23,700,035...23,735,301
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 chrNW_004955547:2,926,154...2,931,954
Ensembl chrNW_004955547:2,773,523...2,932,609
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 chrNW_004955506:6,493,466...6,526,778
Ensembl chrNW_004955506:6,493,466...6,526,778
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 chrNW_004955547:2,926,154...2,931,954
Ensembl chrNW_004955547:2,773,523...2,932,609
JBrowse link
epidermolysis bullosa simplex Ogna type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Plec plectin ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX 5A, OGNA TYPE | ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Ogna type OMIM
ClinVar
PMID:9536098 PMID:11851880 PMID:15206692 PMID:15810881 PMID:17576681 More... NCBI chrNW_004955454:2,583,138...2,644,308
Ensembl chrNW_004955454:2,583,138...2,643,211
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 OMIM
ClinVar
PMID:421361 PMID:1049409 PMID:2476664 PMID:6457621 PMID:7520042 More... NCBI chrNW_004955547:2,926,154...2,931,954
Ensembl chrNW_004955547:2,773,523...2,932,609
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 chrNW_004955454:3,006,851...3,024,430
Ensembl chrNW_004955454:3,006,845...3,024,426
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 chrNW_004955454:2,882,694...2,907,177
Ensembl chrNW_004955454:2,882,755...2,907,081
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 chrNW_004955454:2,394,109...2,396,694
Ensembl chrNW_004955454:2,394,782...2,396,241
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 chrNW_004955454:3,024,324...3,039,004
Ensembl chrNW_004955454:3,024,406...3,039,425
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 chrNW_004955454:2,933,904...2,944,675
Ensembl chrNW_004955454:2,934,152...2,944,492
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 chrNW_004955454:2,284,892...2,299,169 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 chrNW_004955454:2,512,151...2,526,080 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 chrNW_004955454:2,732,308...2,734,398
Ensembl chrNW_004955454:2,732,308...2,734,398
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 chrNW_004955454:2,421,393...2,436,012
Ensembl chrNW_004955454:2,422,237...2,427,194
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 chrNW_004955454:2,976,812...2,979,835
Ensembl chrNW_004955454:2,976,894...2,979,785
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 chrNW_004955454:3,094,015...3,096,060
Ensembl chrNW_004955454:3,094,033...3,095,512
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 chrNW_004955454:2,313,172...2,317,829
Ensembl chrNW_004955454:2,313,172...2,317,829
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 chrNW_004955454:1,996,256...2,004,848
Ensembl chrNW_004955454:1,996,426...2,004,848
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 chrNW_004955454:1,724,929...1,735,380
Ensembl chrNW_004955454:1,724,859...1,735,424
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 chrNW_004955454:2,735,463...2,738,956
Ensembl chrNW_004955454:2,735,463...2,738,956
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 chrNW_004955454:1,965,627...1,972,479
Ensembl chrNW_004955454:1,970,626...1,973,743
JBrowse link
G Gpt glutamic--pyruvic transaminase ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:28492532 NCBI chrNW_004955454:3,127,997...3,132,459
Ensembl chrNW_004955454:3,127,997...3,132,459
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 chrNW_004955454:2,657,374...2,660,591
Ensembl chrNW_004955454:2,658,490...2,660,021
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 chrNW_004955454:2,265,759...2,270,569
Ensembl chrNW_004955454:2,265,753...2,271,655
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 chrNW_004955454:2,788,014...2,790,902
Ensembl chrNW_004955454:2,788,020...2,789,783
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 chrNW_004955454:2,907,265...2,932,352
Ensembl chrNW_004955454:2,907,265...2,932,351
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 chrNW_004955454:3,087,168...3,093,916
Ensembl chrNW_004955454:3,087,437...3,093,190
JBrowse link
G LOC102023109 cytochrome c1, heme protein, 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 chrNW_004955454:2,758,935...2,760,569
Ensembl chrNW_004955454:2,758,292...2,760,376
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 chrNW_004955454:1,473,405...1,474,950
Ensembl chrNW_004955454:1,473,191...1,475,038
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 chrNW_004955454:1,900,316...1,902,907
Ensembl chrNW_004955454:1,900,521...1,902,883
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 chrNW_004955454:2,765,966...2,769,260
Ensembl chrNW_004955454:2,765,966...2,769,260
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 chrNW_004955454:2,134,340...2,136,962
Ensembl chrNW_004955454:2,135,484...2,136,560
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 chrNW_004955454:2,413,393...2,420,703
Ensembl chrNW_004955454:2,413,822...2,419,276
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 chrNW_004955454:3,132,761...3,139,501
Ensembl chrNW_004955454:3,132,762...3,136,109
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 chrNW_004955454:2,799,727...2,882,610
Ensembl chrNW_004955454:2,799,728...2,882,610
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 chrNW_004955454:2,273,127...2,279,674
Ensembl chrNW_004955454:2,274,074...2,278,756
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 chrNW_004955454:2,280,223...2,283,613
Ensembl chrNW_004955454:2,280,223...2,283,613
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 chrNW_004955454:2,500,360...2,507,372 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 chrNW_004955454:2,707,819...2,735,375
Ensembl chrNW_004955454:2,707,819...2,720,992
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 chrNW_004955454:2,644,718...2,651,962
Ensembl chrNW_004955454:2,645,003...2,651,604
JBrowse link
G Plec plectin ISO 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
ClinVar
PMID:8696340 PMID:8830774 PMID:8894687 PMID:9536098 PMID:9886273 More... NCBI chrNW_004955454:2,583,138...2,644,308
Ensembl chrNW_004955454:2,583,138...2,643,211
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 chrNW_004955454:3,097,218...3,127,896
Ensembl chrNW_004955454:3,119,774...3,128,774
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 chrNW_004955454:2,482,968...2,497,339
Ensembl chrNW_004955454:2,482,968...2,497,339
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 chrNW_004955454:2,305,485...2,311,280
Ensembl chrNW_004955454:2,305,485...2,311,280
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 chrNW_004955454:3,136,097...3,142,525
Ensembl chrNW_004955454:3,136,216...3,142,422
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 chrNW_004955454:2,086,054...2,099,018
Ensembl chrNW_004955454:2,086,212...2,097,728
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 chrNW_004955454:2,461,526...2,482,734
Ensembl chrNW_004955454:2,461,760...2,482,098
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 chrNW_004955454:2,948,137...2,953,955
Ensembl chrNW_004955454:2,950,663...2,953,645
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 chrNW_004955454:2,886,981...2,888,829
Ensembl chrNW_004955454:2,886,981...2,888,829
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 chrNW_004955454:2,761,725...2,765,929
Ensembl chrNW_004955454:2,761,725...2,765,929
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 chrNW_004955454:3,041,316...3,047,419
Ensembl chrNW_004955454:3,040,877...3,046,250
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 chrNW_004955454:2,944,169...2,982,203
Ensembl chrNW_004955454:2,979,889...2,982,203
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 chrNW_004955454:1,440,534...1,449,123
Ensembl chrNW_004955454:1,447,437...1,449,299
Ensembl chrNW_004955454:1,447,437...1,449,299
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 chrNW_004955454:2,675,857...2,703,729
Ensembl chrNW_004955454:2,676,247...2,703,335
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 chrNW_004955454:2,299,244...2,304,795
Ensembl chrNW_004955454:2,299,640...2,301,574
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 chrNW_004955454:2,974,713...2,976,454 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 chrNW_004955454:3,054,727...3,067,785
Ensembl chrNW_004955454:3,054,400...3,068,028
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 chrNW_004955454:2,020,884...2,045,939
Ensembl chrNW_004955454:2,021,563...2,046,190
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 chrNW_004955454:3,049,977...3,054,078
Ensembl chrNW_004955454:3,048,042...3,054,361
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 chrNW_004955454:2,145,605...2,239,643
Ensembl chrNW_004955454:2,142,062...2,239,518
JBrowse link
G Zfp41 ZFP41 zinc finger 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 chrNW_004955454:1,979,990...1,994,537
Ensembl chrNW_004955454:1,979,990...1,994,537
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 chrNW_004955454:3,069,887...3,087,172
Ensembl chrNW_004955454:3,069,887...3,086,954
JBrowse link
G Znf623 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 chrNW_004955454:2,355,353...2,366,636
Ensembl chrNW_004955454:2,355,353...2,366,636
JBrowse link
G Znf696 zinc finger protein 696 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 chrNW_004955454:2,015,577...2,021,102
Ensembl chrNW_004955454:2,017,085...2,025,445
JBrowse link
epidermolysis bullosa with congenital localized absence of skin and deformity of nails term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col7a1 collagen type VII alpha 1 chain ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA DYSTROPHICA, BART TYPE OMIM
ClinVar
PMID:2425097 PMID:5910871 PMID:7695699 PMID:7833933 PMID:8088783 More... NCBI chrNW_004955532:650,913...681,186 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 OMIM
ClinVar
PMID:2450378 PMID:3198322 PMID:9536098 PMID:10395892 PMID:12101406 More... NCBI chrNW_004955465:6,356,970...6,391,206
Ensembl chrNW_004955465:6,356,863...6,392,207
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 chrNW_004955445:11,191,817...11,202,156
Ensembl chrNW_004955445:11,190,603...11,202,093
JBrowse link
G Cd40lg CD40 ligand ISO RGD PMID:18050371 RGD:8547765 NCBI chrNW_004955489:8,465,571...8,477,714
Ensembl chrNW_004955489:8,465,164...8,477,746
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 chrNW_004955424:952,595...979,159
Ensembl chrNW_004955424:952,502...978,636
JBrowse link
G Masp2 MBL associated serine protease 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12904520 NCBI chrNW_004955486:2,641,730...2,655,125 JBrowse link
G Vegfa vascular endothelial growth factor A ISO mRNA:increased expression: : RGD PMID:7738351 RGD:7421578 NCBI chrNW_004955437:9,527,445...9,541,908 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 chrNW_004955420:23,700,030...23,733,021
Ensembl chrNW_004955420:23,700,035...23,735,301
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 chrNW_004955547:2,926,154...2,931,954
Ensembl chrNW_004955547:2,773,523...2,932,609
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 chrNW_004955502:3,175,918...3,610,823
Ensembl chrNW_004955502:3,267,527...3,610,823
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 chrNW_004955547:2,926,154...2,931,954
Ensembl chrNW_004955547:2,773,523...2,932,609
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 chrNW_004955547:2,926,154...2,931,954
Ensembl chrNW_004955547:2,773,523...2,932,609
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 chrNW_004955547:2,926,154...2,931,954
Ensembl chrNW_004955547:2,773,523...2,932,609
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 chrNW_004955420:23,700,030...23,733,021
Ensembl chrNW_004955420:23,700,035...23,735,301
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 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 chrNW_004955547:2,926,154...2,931,954
Ensembl chrNW_004955547:2,773,523...2,932,609
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 chrNW_004955547:2,926,154...2,931,954
Ensembl chrNW_004955547:2,773,523...2,932,609
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 OMIM
ClinVar
PMID:3978039 PMID:10615129 PMID:10767338 PMID:11874499 PMID:15545997 More... NCBI chrNW_004955501:7,382,657...7,519,789
Ensembl chrNW_004955501:7,383,150...7,519,988
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 OMIM
ClinVar
PMID:19765682 PMID:25741868 PMID:31790667 NCBI chrNW_004955402:18,401,065...18,439,827
Ensembl chrNW_004955402:18,399,220...18,439,878
JBrowse link
junctional epidermolysis bullosa term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col17a1 collagen type XVII alpha 1 chain susceptibility ISO ClinVar Annotator: match by term: Junctional epidermolysis bullosa RGD
ClinVar
PMID:7550320 PMID:9199555 PMID:9740252 PMID:10398261 PMID:10577906 More... RGD:1600884 NCBI chrNW_004955485:6,568,178...6,616,972 JBrowse link
G Galk1 galactokinase 1 ISO ClinVar Annotator: match by term: Junctional epidermolysis bullosa ClinVar PMID:9792864 PMID:11886501 NCBI chrNW_004955506:6,489,799...6,493,354
Ensembl chrNW_004955506:6,489,800...6,493,354
JBrowse link
G Itga6 integrin subunit alpha 6 ISO ClinVar Annotator: match by term: Junctional epidermolysis bullosa ClinVar PMID:21357940 PMID:25741868 NCBI chrNW_004955449:2,590,982...2,665,887
Ensembl chrNW_004955449:2,590,982...2,665,887
JBrowse link
G Itgb4 integrin subunit beta 4 ISO ClinVar Annotator: match by term: Junctional epidermolysis bullosa ClinVar PMID:9792864 PMID:11886501 NCBI chrNW_004955506:6,493,466...6,526,778
Ensembl chrNW_004955506:6,493,466...6,526,778
JBrowse link
G Lama3 laminin subunit alpha 3 ISO ClinVar Annotator: match by term: Junctional epidermolysis bullosa ClinVar PMID:9536098 PMID:10366601 PMID:11810295 PMID:11907499 PMID:12915477 More... NCBI chrNW_004955402:11,980,980...12,362,143 JBrowse link
G Lamb3 laminin subunit beta 3 susceptibility ISO DNA:nonsense mutation
ClinVar Annotator: match by term: Junctional epidermolysis bullosa
RGD
ClinVar
PMID:7550237 PMID:7698759 PMID:7706760 PMID:8824879 PMID:8983017 More... RGD:1600209 NCBI chrNW_004955489:2,547,611...2,603,079
Ensembl chrNW_004955489:2,568,650...2,607,595
JBrowse link
G Lamc2 laminin subunit gamma 2 susceptibility ISO DNA:splice-site mutation, deletion-insertion
ClinVar Annotator: match by term: Junctional epidermolysis bullosa
RGD
ClinVar
PMID:8012393 PMID:9856849 PMID:11231327 PMID:11810295 PMID:11907499 More... RGD:1600210 NCBI chrNW_004955406:22,020,330...22,074,271
Ensembl chrNW_004955406:22,020,024...22,075,942
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 chrNW_004955485:6,568,178...6,616,972 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 chrNW_004955402:11,980,980...12,362,143 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 chrNW_004955489:2,547,611...2,603,079
Ensembl chrNW_004955489:2,568,650...2,607,595
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 chrNW_004955402:11,980,980...12,362,143 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 chrNW_004955489:2,547,611...2,603,079
Ensembl chrNW_004955489:2,568,650...2,607,595
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 chrNW_004955406:22,020,330...22,074,271
Ensembl chrNW_004955406:22,020,024...22,075,942
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 chrNW_004955402:11,980,980...12,362,143 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 ClinVar
OMIM
PMID:7633458 PMID:8530087 PMID:8586427 PMID:8618022 PMID:8824879 More... NCBI chrNW_004955402:11,980,980...12,362,143 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 OMIM
ClinVar
PMID:7633458 PMID:8530087 PMID:8618022 PMID:8824879 PMID:8983017 More... NCBI chrNW_004955402:11,980,980...12,362,143 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, intermediate | ClinVar Annotator: match by term: LAMC2-related condition OMIM
ClinVar
PMID:11564184 PMID:11810295 PMID:11907499 PMID:15538630 PMID:16199547 More... NCBI chrNW_004955406:22,020,330...22,074,271
Ensembl chrNW_004955406:22,020,024...22,075,942
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, severe ClinVar
OMIM
PMID:7849725 PMID:8012114 PMID:8012393 PMID:8012394 PMID:8824879 More... NCBI chrNW_004955406:22,020,330...22,074,271
Ensembl chrNW_004955406:22,020,024...22,075,942
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, junctional 4, intermediate OMIM
ClinVar
PMID:7092249 PMID:7550320 PMID:8618019 PMID:9012408 PMID:9077475 More... NCBI chrNW_004955485:6,568,178...6,616,972 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 chrNW_004955506:6,489,799...6,493,354
Ensembl chrNW_004955506:6,489,800...6,493,354
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 chrNW_004955506:6,493,466...6,526,778
Ensembl chrNW_004955506:6,493,466...6,526,778
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:25741868 PMID:25810266 More... NCBI chrNW_004955451:11,563,120...11,590,119
Ensembl chrNW_004955451:11,561,704...11,589,727
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 ISO OMIM:226700 MouseDO NCBI chrNW_004955449:2,590,982...2,665,887
Ensembl chrNW_004955449:2,590,982...2,665,887
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 chrNW_004955402:11,980,980...12,362,143 JBrowse link
G Lamb3 laminin subunit beta 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:7550237 PMID:7698759 PMID:7706760 PMID:8362910 PMID:8541876 More... NCBI chrNW_004955489:2,547,611...2,603,079
Ensembl chrNW_004955489:2,568,650...2,607,595
JBrowse link
G Lamc2 laminin subunit gamma 2 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:7849725 PMID:8012114 PMID:8012393 PMID:8012394 PMID:8824879 More... NCBI chrNW_004955406:22,020,330...22,074,271
Ensembl chrNW_004955406:22,020,024...22,075,942
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 chrNW_004955537:2,408,042...2,438,788
Ensembl chrNW_004955537:2,408,042...2,439,511
JBrowse link
junctional epidermolysis bullosa non-Herlitz type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col17a1 collagen type XVII alpha 1 chain ISO ClinVar Annotator: match by term: Junctional epidermolysis bullosa, non-Herlitz type ClinVar PMID:9077475 PMID:9204958 PMID:9536098 PMID:9583744 PMID:10636730 More... NCBI chrNW_004955485:6,568,178...6,616,972 JBrowse link
G Galk1 galactokinase 1 ISO ClinVar Annotator: match by term: Junctional epidermolysis bullosa, non-Herlitz type ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955506:6,489,799...6,493,354
Ensembl chrNW_004955506:6,489,800...6,493,354
JBrowse link
G Itgb4 integrin subunit beta 4 ISO ClinVar Annotator: match by term: Junctional epidermolysis bullosa, non-Herlitz type ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955506:6,493,466...6,526,778
Ensembl chrNW_004955506:6,493,466...6,526,778
JBrowse link
G Lama3 laminin subunit alpha 3 ISO ClinVar Annotator: match by term: Epidermolysis bullosa junctionalis, disentis type | ClinVar Annotator: match by term: Junctional epidermolysis bullosa, non-Herlitz type ClinVar PMID:10366601 PMID:11810295 PMID:12915477 PMID:16473856 PMID:17362460 More... NCBI chrNW_004955402:11,980,980...12,362,143 JBrowse link
G Lamb3 laminin subunit beta 3 ISO ClinVar Annotator: match by term: Junctional epidermolysis bullosa, non-Herlitz type
ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA JUNCTIONALIS, SEVERE NONLETHAL | ClinVar Annotator: match by term: Epidermolysis bullosa junctionalis, disentis type | ClinVar Annotator: match by term: Junctional epidermolysis bullosa, non-Herlitz type
ClinVar PMID:7550237 PMID:7698759 PMID:7706760 PMID:8824879 PMID:8983017 More... NCBI chrNW_004955489:2,547,611...2,603,079
Ensembl chrNW_004955489:2,568,650...2,607,595
JBrowse link
G Lamc2 laminin subunit gamma 2 ISO ClinVar Annotator: match by term: Junctional epidermolysis bullosa, non-Herlitz type ClinVar PMID:11564184 PMID:25741868 PMID:27375110 PMID:28492532 NCBI chrNW_004955406:22,020,330...22,074,271
Ensembl chrNW_004955406:22,020,024...22,075,942
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 chrNW_004955506:6,489,799...6,493,354
Ensembl chrNW_004955506:6,489,800...6,493,354
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: 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 chrNW_004955449:2,590,982...2,665,887
Ensembl chrNW_004955449:2,590,982...2,665,887
JBrowse link
G Itgb4 integrin subunit beta 4 ISO ClinVar Annotator: match by term: ITGB4-related condition | ClinVar Annotator: match by term: Junctional epidermolysis bullosa with pyloric atresia OMIM
ClinVar
PMID:6177243 PMID:7545057 PMID:9422533 PMID:9536098 PMID:9546354 More... NCBI chrNW_004955506:6,493,466...6,526,778
Ensembl chrNW_004955506:6,493,466...6,526,778
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 chrNW_004955502:4,219,067...4,356,988
Ensembl chrNW_004955502:4,218,885...4,356,988
JBrowse link
G Plec plectin ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5B, WITH PYLORIC ATRESIA | ClinVar Annotator: match by term: Junctional epidermolysis bullosa with pyloric atresia ClinVar PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chrNW_004955454:2,583,138...2,644,308
Ensembl chrNW_004955454:2,583,138...2,643,211
JBrowse link
Kindler syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fermt1 FERM domain containing kindlin 1 ISO ClinVar Annotator: match by term: FERMT1-related condition | ClinVar Annotator: match by term: Kindler syndrome OMIM
ClinVar
PMID:12668616 PMID:12789646 PMID:14507403 PMID:14962093 PMID:15313809 More... NCBI chrNW_004955415:16,447,921...16,483,221
Ensembl chrNW_004955415:16,446,934...16,483,369
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 chrNW_004955506:6,489,799...6,493,354
Ensembl chrNW_004955506:6,489,800...6,493,354
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 chrNW_004955506:6,493,466...6,526,778
Ensembl chrNW_004955506:6,493,466...6,526,778
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 chrNW_004955547:2,926,154...2,931,954
Ensembl chrNW_004955547:2,773,523...2,932,609
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 chrNW_004955547:2,926,154...2,931,954
Ensembl chrNW_004955547:2,773,523...2,932,609
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 chrNW_004955495:2,796,601...2,824,233
Ensembl chrNW_004955495:2,796,663...2,824,697
JBrowse link
G Cast calpastatin ISO RGD PMID:16314468 RGD:5509814 NCBI chrNW_004955418:15,859,951...15,974,141
Ensembl chrNW_004955418:15,862,729...15,916,169
JBrowse link
G Cat catalase ISO protein:increased activities:skin: RGD PMID:22738420 RGD:9479165 NCBI chrNW_004955422:11,783,973...11,826,970
Ensembl chrNW_004955422:11,781,835...11,827,464
JBrowse link
G Cd36 CD36 molecule (CD36 blood group) ISO RGD PMID:21255096 RGD:5490304 NCBI chrNW_004955410:5,003,720...5,120,903
Ensembl chrNW_004955410:5,003,668...5,075,313
JBrowse link
G Cd40 CD40 molecule ISO RGD PMID:21255096 RGD:5490304 NCBI chrNW_004955445:11,191,817...11,202,156
Ensembl chrNW_004955445:11,190,603...11,202,093
JBrowse link
G Cd40lg CD40 ligand ISO mRNA, protein:increased expression:skin, serum RGD PMID:17531537 RGD:8547773 NCBI chrNW_004955489:8,465,571...8,477,714
Ensembl chrNW_004955489:8,465,164...8,477,746
JBrowse link
G Il2 interleukin 2 ISO RGD PMID:6432916 RGD:8693324 NCBI chrNW_004955428:18,163,010...18,168,157
Ensembl chrNW_004955428:18,162,467...18,168,265
JBrowse link
G Mbl2 mannose binding lectin 2 ISO protein:increased expression:skin: RGD PMID:21327568 RGD:8693728 NCBI chrNW_004955425:7,704,371...7,708,951
Ensembl chrNW_004955425:7,702,137...7,709,006
JBrowse link
pemphigus vulgaris term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dsg3 desmoglein 3 ISO OMIM:169610 MouseDO NCBI chrNW_004955402:18,781,511...18,811,675
Ensembl chrNW_004955402:18,790,243...18,810,305
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 OMIM
ClinVar
PMID:7695699 PMID:7833933 PMID:7861014 PMID:8088783 PMID:8218237 More... NCBI chrNW_004955532:650,913...681,186 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 ISO ClinVar Annotator: match by term: Epidermolysis bullosa dystrophica inversa, autosomal recessive | ClinVar Annotator: match by term: Recessive dystrophic epidermolysis bullosa ClinVar PMID:1050445 PMID:7577595 PMID:7695699 PMID:7833933 PMID:7883979 More... NCBI chrNW_004955532:650,913...681,186 JBrowse link
G Grip1 glutamate receptor interacting protein 1 ISO OMIM:226600 MouseDO NCBI chrNW_004955458:12,970,858...13,179,369
Ensembl chrNW_004955458:12,967,089...13,214,838
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 chrNW_004955447:9,327...21,212 JBrowse link
G Apcs amyloid P component, serum ISO CTD Direct Evidence: marker/mechanism CTD PMID:34142820 NCBI chrNW_004955468:11,388,154...11,389,259
Ensembl chrNW_004955468:11,388,192...11,390,314
JBrowse link
G C1qa complement C1q A chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:34142820 NCBI chrNW_004955452:2,753,362...2,756,220
Ensembl chrNW_004955452:2,752,970...2,756,488
JBrowse link
G C1qc complement C1q C chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:34142820 NCBI chrNW_004955452:2,759,079...2,762,522
Ensembl chrNW_004955452:2,758,821...2,762,522
JBrowse link
G Cav1 caveolin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chrNW_004955432:22,258,262...22,292,403
Ensembl chrNW_004955432:22,258,250...22,292,403
JBrowse link
G Celf2 CUGBP Elav-like family member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chrNW_004955421:27,064,497...27,374,850
Ensembl chrNW_004955421:26,992,734...27,374,850
JBrowse link
G Cfp complement factor properdin ISO CTD Direct Evidence: marker/mechanism CTD PMID:34142820 NCBI chrNW_004955516:449,993...455,897
Ensembl chrNW_004955516:449,993...456,492
JBrowse link
G Clu clusterin ISO mRNA:decreased expression:conjunctiva RGD PMID:12036968 RGD:8699507 NCBI chrNW_004955403:50,160,598...50,175,876
Ensembl chrNW_004955403:50,160,598...50,175,876
JBrowse link
G Cops5 COP9 signalosome subunit 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chrNW_004955444:12,217,337...12,233,570
Ensembl chrNW_004955444:12,217,337...12,234,193
JBrowse link
G Csf3 colony stimulating factor 3 ISO CTD Direct Evidence: therapeutic CTD PMID:11321886 NCBI chrNW_004955451:14,688,181...14,690,126
Ensembl chrNW_004955451:14,688,181...14,690,126
JBrowse link
G Ctnnb1 catenin beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chrNW_004955420:29,030,716...29,047,447
Ensembl chrNW_004955420:29,030,716...29,047,449
JBrowse link
G Cul1 cullin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chrNW_004955491:4,165,400...4,212,483
Ensembl chrNW_004955491:4,165,561...4,212,054
JBrowse link
G Cul4a cullin 4A ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chrNW_004955404:583,261...617,914
Ensembl chrNW_004955404:583,261...617,914
JBrowse link
G Derl1 derlin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chrNW_004955540:1,918,230...1,944,186
Ensembl chrNW_004955540:1,917,655...1,944,214
JBrowse link
G Elmo1 engulfment and cell motility 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chrNW_004955460:6,044,827...6,580,770
Ensembl chrNW_004955460:6,044,725...6,581,269
JBrowse link
G Ep300 E1A binding protein p300 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chrNW_004955413:26,647,553...26,727,875
Ensembl chrNW_004955413:26,648,339...26,727,933
JBrowse link
G Fbxo6 F-box protein 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chrNW_004955486:2,197,296...2,205,947
Ensembl chrNW_004955486:2,197,467...2,201,256
JBrowse link
G Ifng interferon gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chrNW_004955458:14,643,333...14,648,020
Ensembl chrNW_004955458:14,643,313...14,648,045
JBrowse link
G Lrg1 leucine rich alpha-2-glycoprotein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34142820 NCBI chrNW_004955495:4,402,670...4,405,666
Ensembl chrNW_004955495:4,402,746...4,406,943
JBrowse link
G Mif macrophage migration inhibitory factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:9372356 NCBI chrNW_004955455:8,367,566...8,368,460
Ensembl chrNW_004955455:8,367,566...8,368,460
JBrowse link
G Nedd4 NEDD4 E3 ubiquitin protein ligase ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chrNW_004955409:183,645...281,252
Ensembl chrNW_004955409:183,545...281,318
JBrowse link
G Nfkbiz NFKB inhibitor zeta ISO MouseDO NCBI chrNW_004955427:3,350,174...3,358,609
Ensembl chrNW_004955427:3,350,174...3,360,379
JBrowse link
G Nos2 nitric oxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10620138 NCBI chrNW_004955481:5,197,957...5,232,406
Ensembl chrNW_004955481:5,201,234...5,231,961
JBrowse link
G Nucb1 nucleobindin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chrNW_004955559:1,723,986...1,739,776
Ensembl chrNW_004955559:1,722,411...1,740,596
JBrowse link
G Orm1 orosomucoid 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34142820 NCBI chrNW_004955419:13,262,119...13,264,986 JBrowse link
G Parp1 poly(ADP-ribose) polymerase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chrNW_004955489:520,875...557,609
Ensembl chrNW_004955489:520,875...557,615
JBrowse link
G Pml PML nuclear body scaffold ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chrNW_004955450:3,654,854...3,692,057
Ensembl chrNW_004955450:3,656,498...3,692,406
JBrowse link
G Pros1 protein S ISO CTD Direct Evidence: marker/mechanism CTD PMID:34142820 NCBI chrNW_004955407:3,514,900...3,566,165
Ensembl chrNW_004955407:3,535,388...3,565,058
JBrowse link
G Psmc5 proteasome 26S subunit, ATPase 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chrNW_004955478:7,996,902...8,002,183
Ensembl chrNW_004955478:7,996,902...8,002,183
JBrowse link
G Ptger3 prostaglandin E receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21966456 NCBI chrNW_004955423:21,096,926...21,164,435 JBrowse link
G Ptgis prostaglandin I2 synthase ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chrNW_004955445:8,624,228...8,663,385
Ensembl chrNW_004955445:8,623,430...8,677,658
JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chrNW_004955431:1,960,765...2,124,576
Ensembl chrNW_004955431:1,960,661...2,124,576
JBrowse link
G Rbx1 ring-box 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chrNW_004955413:26,579,759...26,592,980
Ensembl chrNW_004955413:26,579,759...26,592,980
JBrowse link
G Tnf tumor necrosis factor ISO protein:increased expression:blister: RGD PMID:9852250 RGD:7401184 NCBI chrNW_004955437:117,267...119,899
Ensembl chrNW_004955437:117,206...120,700
JBrowse link
G Vcp valosin containing protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chrNW_004955472:1,111,649...1,124,076
Ensembl chrNW_004955472:1,107,164...1,124,076
JBrowse link
G Vwf von Willebrand factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:34142820 NCBI chrNW_004955413:3,672,470...3,825,588
Ensembl chrNW_004955413:3,672,470...3,819,571
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 OMIM
ClinVar
PMID:2653224 PMID:7695699 PMID:7833933 PMID:8088783 PMID:8218237 More... NCBI chrNW_004955532:650,913...681,186 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 DNA:point_mutation:CDS:C787T, amino acid Q263X RGD PMID:12668616 RGD:1600405 NCBI chrNW_004955415:16,447,921...16,483,221
Ensembl chrNW_004955415:16,446,934...16,483,369
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14337
    sensory system disease 6559
      skin disease 3840
        dermatitis 469
          bullous skin disease 149
            pemphigoid + 12
            pemphigus + 10
            subcorneal pustular dermatosis 0
            vesiculobullous skin disease + 137
Path 2
Term Annotations click to browse term
  disease 14337
    Pathological Conditions, Signs and Symptoms 11318
      Signs and Symptoms 9516
        Neurologic Manifestations 9210
          sensory system disease 6559
            skin disease 3840
              dermatitis 469
                bullous skin disease 149
                  pemphigoid + 12
                  pemphigus + 10
                  subcorneal pustular dermatosis 0
                  vesiculobullous skin disease + 137
paths to the root