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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.


show annotations for term's descendants           Sort by:
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 chr14:6,386,900...6,404,968
Ensembl chr14:6,386,903...6,407,031 		JBrowse link
G ODC1 ornithine decarboxylase 1 ISO OMIM:209500 MouseDO NCBI chr 3:126,087,013...126,095,644
Ensembl chr 3:126,087,242...126,096,051 		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 chr13:31,262,750...31,295,112 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 chr12:5,651,292...5,685,601
Ensembl chr12:5,651,292...5,685,611 		JBrowse link
G KRT5 keratin 5 ISO ClinVar Annotator: match by term: Cockayne-Touraine type epidermolysis bullosa ClinVar PMID:7520042 PMID:7537780 PMID:7688477 PMID:8807337 PMID:9036937 More... NCBI chr 5:17,862,047...17,868,397
Ensembl chr 5:17,862,051...17,868,402 		JBrowse link
G LOC110255312 keratin, type I cytoskeletal 14 ISO ClinVar Annotator: match by term: Cockayne-Touraine type epidermolysis bullosa ClinVar PMID:25741868 PMID:28492532 NCBI chr12:21,074,965...21,079,393
Ensembl chr12:21,074,850...21,079,391 		JBrowse link
Blister term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAM17 ADAM metallopeptidase domain 17 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19167455 NCBI chr 3:126,795,513...126,853,995
Ensembl chr 3:126,795,426...126,853,995 		JBrowse link
G ANXA1 annexin A1 ISO associated with Hypersensitivity, Delayed;protein:increased expression:mononuclear cell RGD PMID:10331485 RGD:7421575 NCBI chr 1:226,414,200...226,431,963
Ensembl chr 1:226,414,306...226,432,279 		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 chr 6:115,352,005...115,383,750
Ensembl chr 6:115,351,925...115,383,743 		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 3:10,381,306...10,385,677
Ensembl chr 3:10,381,306...10,385,677 		JBrowse link
G CFB complement factor B ISO RGD PMID:17024247 RGD:7421522 NCBI chr 7:24,034,077...24,040,523
Ensembl chr 7:24,034,332...24,041,179 		JBrowse link
G CXCL8 C-X-C motif chemokine ligand 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11359455 NCBI chr 8:69,932,646...69,935,861
Ensembl chr 8:69,932,643...69,935,861 		JBrowse link
G F2 coagulation factor II, thrombin ISO protein:increased expression:plasma RGD PMID:21488867 RGD:5147756 NCBI chr 2:15,793,257...15,819,151
Ensembl chr 2:15,791,455...15,819,137 		JBrowse link
G ICAM1 intercellular adhesion molecule 1 ISO RGD PMID:1377725 RGD:8547591 NCBI chr 2:69,097,136...69,107,722
Ensembl chr 2:69,097,122...69,108,205 		JBrowse link
G IL2 interleukin 2 ISO RGD PMID:1973607 RGD:8663461 NCBI chr 8:101,640,938...101,645,683
Ensembl chr 8:101,640,944...101,645,609 		JBrowse link
G MMP9 matrix metallopeptidase 9 ISO RGD PMID:9687525 RGD:8547843 NCBI chr17:48,179,690...48,186,782
Ensembl chr17:48,179,671...48,186,788 		JBrowse link
G VEGFA vascular endothelial growth factor A ISO mRNA:increased expression: : RGD PMID:7738351 RGD:7421578 NCBI chr 7:38,746,393...38,762,282
Ensembl chr 7:38,746,052...38,761,366 		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 chr14:11,336,585...11,352,569
Ensembl chr14:11,336,595...11,349,764 		JBrowse link
G IL1RN interleukin 1 receptor antagonist ISO protein:increased expression:serum (human) RGD PMID:11448121 RGD:8549794
G PTGER3 prostaglandin E receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21966456 NCBI chr 6:141,958,955...142,160,437
Ensembl chr 6:141,958,955...142,161,286 		JBrowse link
G TNF tumor necrosis factor ISO protein:increased expression:Conjunctiva: RGD PMID:7750940 RGD:7394786 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,415 		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 3:11,214,194...11,245,891
Ensembl chr 3:11,214,205...11,244,897 		JBrowse link
G LTA lymphotoxin alpha ISO DNA:polymorphism RGD PMID:7914110 RGD:8548777 NCBI chr 7:23,696,387...23,698,280
Ensembl chr 7:23,696,040...23,698,299 		JBrowse link
G TNF tumor necrosis factor ISO DNA:polymorphism:promoter RGD PMID:7914110 RGD:8548777 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,415 		JBrowse link
G VEGFA vascular endothelial growth factor A ISO mRNA:increased expression: : RGD PMID:7738351 RGD:7421578 NCBI chr 7:38,746,393...38,762,282
Ensembl chr 7:38,746,052...38,761,366 		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 3:10,381,306...10,385,677
Ensembl chr 3:10,381,306...10,385,677 		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 chr13:31,262,750...31,295,112 JBrowse link
G ITGA6 integrin subunit alpha 6 ISO ClinVar Annotator: match by term: Epidermolysis bullosa ClinVar PMID:14675179 PMID:25741868 NCBI chr15:78,504,108...78,591,779
Ensembl chr15:78,504,078...78,591,777 		JBrowse link
G ITGB4 integrin subunit beta 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18348258 NCBI chr12:5,651,292...5,685,601
Ensembl chr12:5,651,292...5,685,611 		JBrowse link
G KRT5 keratin 5 ISO ClinVar Annotator: match by term: Epidermolysis bullosa ClinVar PMID:25741868 NCBI chr 5:17,862,047...17,868,397
Ensembl chr 5:17,862,051...17,868,402 		JBrowse link
G LAMB3 laminin subunit beta 3 ISO ClinVar Annotator: match by term: Epidermolysis bullosa ClinVar PMID:25741868 NCBI chr 9:133,298,009...133,351,162
Ensembl chr 9:133,311,834...133,351,197 		JBrowse link
G LOC100512977 KDEL motif-containing protein 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:36,856,092...36,970,940
Ensembl chr 9:36,852,560...36,879,483
Ensembl chr 9:36,852,560...36,879,483 		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 chr13:31,262,750...31,295,112 JBrowse link
G IGFBP3 insulin like growth factor binding protein 3 ISO mRNA,protein:decreased expression:skin: RGD PMID:15140235 RGD:12743601 NCBI chr18:50,002,921...50,009,425
Ensembl chr18:50,003,022...50,010,690 		JBrowse link
G MMP1 matrix metallopeptidase 1 severity ISO DNA:insertion:promoter:g.-1607_-1606insG (human)
ClinVar Annotator: match by term: Hallopeau-Siemens Disease		 RGD
ClinVar		 PMID:18030675 PMID:25741868 PMID:28492532 RGD:8549728 NCBI chr 9:33,411,738...33,420,205
Ensembl chr 9:33,411,065...33,420,076 		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 chr13:31,262,750...31,295,112 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 chr13:31,262,750...31,295,112 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 chr12:5,651,292...5,685,601
Ensembl chr12:5,651,292...5,685,611 		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 chr 5:17,862,047...17,868,397
Ensembl chr 5:17,862,051...17,868,402 		JBrowse link
G LOC110255312 keratin, type I cytoskeletal 14 susceptibility ISO 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		 RGD
ClinVar		 PMID:1717157 PMID:7682883 PMID:8601736 PMID:10583131 PMID:10733662 More... RGD:1600173 NCBI chr12:21,074,965...21,079,393
Ensembl chr12:21,074,850...21,079,391 		JBrowse link
G MMP9 matrix metallopeptidase 9 ISO RGD PMID:23894602 RGD:13204851 NCBI chr17:48,179,690...48,186,782
Ensembl chr17:48,179,671...48,186,788 		JBrowse link
G PLEC plectin ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex ClinVar PMID:11851880 PMID:23289980 PMID:25741868 PMID:28492532 NCBI chr 4:696,355...753,859
Ensembl chr 4:689,034...753,696 		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 chr 5:17,862,047...17,868,397
Ensembl chr 5:17,862,051...17,868,402 		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 7:28,812,423...29,300,149
Ensembl chr 7:28,812,252...29,300,152 		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 LOC100512977 KDEL motif-containing protein 2 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 9:36,856,092...36,970,940
Ensembl chr 9:36,852,560...36,879,483
Ensembl chr 9:36,852,560...36,879,483 		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 chr 4:696,355...753,859
Ensembl chr 4:689,034...753,696 		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 8:80,674,999...81,024,501
Ensembl chr 8:80,675,002...81,024,452 		JBrowse link
G BCLAF1 BCL2 associated transcription factor 1 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy ClinVar NCBI chr 1:27,872,167...27,902,980
Ensembl chr 1:27,872,183...27,902,974 		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 chr11:78,673,582...78,708,959
Ensembl chr11:78,679,039...78,708,846 		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 chr11:13,775,267...14,116,377
Ensembl chr11:13,959,666...14,113,230 		JBrowse link
G GPR33 G protein-coupled receptor 33 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy ClinVar NCBI chr 7:68,084,248...68,088,895
Ensembl chr 7:68,084,248...68,088,895 		JBrowse link
G HRNR hornerin ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy ClinVar PMID:25741868 NCBI chr 4:96,983,596...96,992,606 JBrowse link
G IDS iduronate 2-sulfatase ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy ClinVar NCBI chr  X:121,572,797...121,596,525
Ensembl chr  X:121,572,807...121,596,513 		JBrowse link
G PLEC plectin ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy OMIM
ClinVar		 PMID:9536098 PMID:11851880 PMID:15206692 PMID:15659326 PMID:15810881 More... NCBI chr 4:696,355...753,859
Ensembl chr 4:689,034...753,696 		JBrowse link
G RP1L1 RP1 like 1 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy ClinVar NCBI chr14:13,790,287...13,841,230 JBrowse link
G TMEM249 transmembrane protein 249 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy ClinVar NCBI chr 4:428,339...430,393
Ensembl chr 4:428,535...431,282 		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 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 chr 2:525,000...529,568
Ensembl chr 2:525,051...529,565 		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 chr 5:17,862,047...17,868,397
Ensembl chr 5:17,862,051...17,868,402 		JBrowse link
G LOC110255312 keratin, type I cytoskeletal 14 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex Dowling-Meara type ClinVar PMID:1717157 PMID:9804355 PMID:10583131 PMID:10730767 PMID:10733662 More... NCBI chr12:21,074,965...21,079,393
Ensembl chr12:21,074,850...21,079,391 		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 chr13:121,564,833...121,608,146
Ensembl chr13:121,570,591...121,608,139 		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 chr 5:17,862,047...17,868,397
Ensembl chr 5:17,862,051...17,868,402 		JBrowse link
G LOC110255312 keratin, type I cytoskeletal 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 chr12:21,074,965...21,079,393
Ensembl chr12:21,074,850...21,079,391 		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 chr12:5,651,292...5,685,601
Ensembl chr12:5,651,292...5,685,611 		JBrowse link
G KRT5 keratin 5 ISO ClinVar Annotator: match by term: Epidermolysis Bullosa Simplex, Weber-Cockayne Type | ClinVar Annotator: match by term: Localized epidermolysis bullosa simplex ClinVar PMID:7520042 PMID:7537780 PMID:7688477 PMID:8807337 PMID:9036937 More... NCBI chr 5:17,862,047...17,868,397
Ensembl chr 5:17,862,051...17,868,402 		JBrowse link
G LOC110255312 keratin, type I cytoskeletal 14 ISO ClinVar Annotator: match by term: Localized epidermolysis bullosa simplex ClinVar PMID:25741868 PMID:28492532 NCBI chr12:21,074,965...21,079,393
Ensembl chr12:21,074,850...21,079,391 		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 chr 4:696,355...753,859
Ensembl chr 4:689,034...753,696 		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 chr 5:17,862,047...17,868,397
Ensembl chr 5:17,862,051...17,868,402 		JBrowse link
epidermolysis bullosa simplex with muscular dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADCK5 aarF domain containing kinase 5 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 4:393,720...410,582
Ensembl chr 4:393,728...410,559 		JBrowse link
G BOP1 BOP1 ribosomal biogenesis factor ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 4:486,562...507,141
Ensembl chr 4:475,426...507,138 		JBrowse link
G CCDC166 coiled-coil domain containing 166 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 4:920,432...924,051
Ensembl chr 4:920,749...923,197 		JBrowse link
G CPSF1 cleavage and polyadenylation specific factor 1 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 4:382,887...393,732 JBrowse link
G CYC1 cytochrome c1 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 4:606,510...608,991
Ensembl chr 4:606,516...608,996 		JBrowse link
G CYP11B2 cytochrome P450 family 11 subfamily B member 2 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:28492532 NCBI chr 4:1,365,725...1,373,138 JBrowse link
G DGAT1 diacylglycerol O-acyltransferase 1 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 4:452,890...463,665
Ensembl chr 4:452,662...466,684 		JBrowse link
G EEF1D eukaryotic translation elongation factor 1 delta ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 4:969,532...982,250
Ensembl chr 4:969,527...983,270 		JBrowse link
G EPPK1 epiplakin 1 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 4:780,276...798,760
Ensembl chr 4:785,029...798,563 		JBrowse link
G EXOSC4 exosome component 4 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 4:618,993...621,336
Ensembl chr 4:618,990...621,342 		JBrowse link
G FAM83H family with sequence similarity 83 member H ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 4:887,472...907,523
Ensembl chr 4:892,041...907,517 		JBrowse link
G FBXL6 F-box and leucine rich repeat protein 6 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 4:424,433...427,799
Ensembl chr 4:424,508...427,799 		JBrowse link
G FOXH1 forkhead box H1 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 4:320,610...324,570
Ensembl chr 4:322,838...324,481 		JBrowse link
G GFUS GDP-L-fucose synthase ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 4:950,947...955,865
Ensembl chr 4:949,867...959,744 		JBrowse link
G GLI4 GLI family zinc finger 4 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 4:1,195,414...1,222,456
Ensembl chr 4:1,215,075...1,235,163 		JBrowse link
G GML glycosylphosphatidylinositol anchored molecule like ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:28492532 NCBI chr 4:1,355,696...1,364,106 JBrowse link
G GPAA1 glycosylphosphatidylinositol anchor attachment 1 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 4:614,596...618,274
Ensembl chr 4:614,601...618,241 		JBrowse link
G GPIHBP1 glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 4:1,253,401...1,256,921
Ensembl chr 4:1,254,565...1,256,577 		JBrowse link
G GRINA glutamate ionotropic receptor NMDA type subunit associated protein 1 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 4:682,823...686,144
Ensembl chr 4:682,835...686,116 		JBrowse link
G GSDMD gasdermin D ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 4:995,753...1,001,964
Ensembl chr 4:995,763...1,000,271 		JBrowse link
G HGH1 HGH1 homolog ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 4:581,751...585,029
Ensembl chr 4:581,758...585,035 		JBrowse link
G HSF1 heat shock transcription factor 1 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 4:463,531...486,483
Ensembl chr 4:463,393...486,473 		JBrowse link
G KIFC2 kinesin family member C2 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 4:324,623...332,221
Ensembl chr 4:324,626...331,917 		JBrowse link
G LOC100152459 cysteine and histidine-rich protein 1 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 4:335,139...348,472
Ensembl chr 4:335,301...346,534 		JBrowse link
G LOC110260198 ly6/PLAUR domain-containing protein 2-like ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:28492532 NCBI chr 4:1,461,565...1,463,707
Ensembl chr 4:1,461,588...1,465,796 		JBrowse link
G LY6D lymphocyte antigen 6 family member D ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:28492532 NCBI chr 4:1,444,029...1,445,714
Ensembl chr 4:1,444,114...1,445,712 		JBrowse link
G LY6E lymphocyte antigen 6 family member E ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:28492532 NCBI chr 4:1,336,112...1,341,112
Ensembl chr 4:1,337,196...1,340,786 		JBrowse link
G LY6H lymphocyte antigen 6 family member H ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:28492532 NCBI chr 4:1,268,671...1,271,896
Ensembl chr 4:1,269,466...1,271,893 		JBrowse link
G LYNX1 Ly6/neurotoxin 1 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:28492532 NCBI chr 4:1,450,112...1,455,000
Ensembl chr 4:1,450,147...1,455,889 		JBrowse link
G MAF1 MAF1 homolog, negative regulator of RNA polymerase III ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 4:597,410...600,520
Ensembl chr 4:597,472...600,447 		JBrowse link
G MAFA MAF bZIP transcription factor A ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 4:1,090,018...1,093,600
Ensembl chr 4:1,090,874...1,093,600 		JBrowse link
G MAPK15 mitogen-activated protein kinase 15 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 4:909,266...915,537
Ensembl chr 4:909,268...915,475 		JBrowse link
G MFSD3 major facilitator superfamily domain containing 3 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:28492532 NCBI chr 4:293,707...295,955
Ensembl chr 4:293,708...295,789 		JBrowse link
G MROH1 maestro heat like repeat family member 1 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 4:507,223...577,859
Ensembl chr 4:507,228...577,132 		JBrowse link
G MROH6 maestro heat like repeat family member 6 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 4:988,367...994,613
Ensembl chr 4:988,185...993,815 		JBrowse link
G NAPRT nicotinate phosphoribosyltransferase ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 4:983,428...986,750
Ensembl chr 4:983,423...986,748 		JBrowse link
G NRBP2 nuclear receptor binding protein 2 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 4:800,722...808,031
Ensembl chr 4:800,063...807,174 		JBrowse link
G OPLAH 5-oxoprolinase, ATP-hydrolysing ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 4:629,901...639,420
Ensembl chr 4:629,870...639,406 		JBrowse link
G PARP10 poly(ADP-ribose) polymerase family member 10 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 4:688,511...695,808 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 chr 4:696,355...753,859
Ensembl chr 4:689,034...753,696 		JBrowse link
G PPP1R16A protein phosphatase 1 regulatory subunit 16A ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:28492532 NCBI chr 4:302,621...320,048
Ensembl chr 4:297,748...320,056 		JBrowse link
G PUF60 poly(U) binding splicing factor 60 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 4:812,137...824,321
Ensembl chr 4:812,131...824,318 		JBrowse link
G PYCR3 pyrroline-5-carboxylate reductase 3 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 4:959,709...964,195
Ensembl chr 4:959,710...964,192 		JBrowse link
G RECQL4 RecQ like helicase 4 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:28492532 NCBI chr 4:287,206...293,629
Ensembl chr 4:287,214...293,913 		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 chr 4:1,123,098...1,133,030
Ensembl chr 4:1,123,105...1,132,966 		JBrowse link
G SCRIB scribble planar cell polarity protein ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 4:824,925...852,360
Ensembl chr 4:825,062...852,664 		JBrowse link
G SCRT1 scratch family transcriptional repressor 1 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 4:443,100...449,113
Ensembl chr 4:443,311...447,677 		JBrowse link
G SCX scleraxis bHLH transcription factor ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 4:500,884...503,276
Ensembl chr 4:500,526...503,193 		JBrowse link
G SHARPIN SHANK associated RH domain interactor ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 4:600,698...605,711
Ensembl chr 4:600,698...605,701 		JBrowse link
G SLC39A4 solute carrier family 39 member 4 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 4:372,681...378,519
Ensembl chr 4:372,660...378,516 		JBrowse link
G SLC52A2 solute carrier family 52 member 2 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 4:421,457...429,360
Ensembl chr 4:421,474...424,384 		JBrowse link
G SPATC1 spermatogenesis and centriole associated 1 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 4:642,962...665,330
Ensembl chr 4:643,094...664,649 		JBrowse link
G TIGD5 tigger transposable element derived 5 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 4:964,727...969,391
Ensembl chr 4:967,370...969,283 		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 chr 4:428,339...430,393
Ensembl chr 4:428,535...431,282 		JBrowse link
G TONSL tonsoku like, DNA repair protein ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 4:349,992...361,749
Ensembl chr 4:350,060...362,167 		JBrowse link
G TOP1MT DNA topoisomerase I mitochondrial ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 4:1,134,179...1,188,149
Ensembl chr 4:1,148,890...1,188,130 		JBrowse link
G VPS28 VPS28 subunit of ESCRT-I ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 4:362,902...368,038
Ensembl chr 4:362,912...370,588 		JBrowse link
G ZC3H3 zinc finger CCCH-type containing 3 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 4:1,009,927...1,084,133
Ensembl chr 4:1,010,638...1,089,738 		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 chr 4:928,786...950,917
Ensembl chr 4:928,798...940,679 		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 chr13:31,262,750...31,295,112 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 chr 7:4,862,649...4,915,626
Ensembl chr 7:4,862,649...4,915,623 		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 chr17:48,286,116...48,298,188
Ensembl chr17:48,286,029...48,298,528 		JBrowse link
G CD40LG CD40 ligand ISO RGD PMID:18050371 RGD:8547765 NCBI chr  X:111,778,666...111,788,901
Ensembl chr  X:111,778,493...111,789,709 		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 3:57,999,228...58,029,768
Ensembl chr 3:57,998,891...58,029,760 		JBrowse link
G MASP2 MBL associated serine protease 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12904520 NCBI chr 6:71,224,637...71,243,041
Ensembl chr 6:71,224,637...71,243,874 		JBrowse link
G VEGFA vascular endothelial growth factor A ISO mRNA:increased expression: : RGD PMID:7738351 RGD:7421578 NCBI chr 7:38,746,393...38,762,282
Ensembl chr 7:38,746,052...38,761,366 		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 chr13:121,564,833...121,608,146
Ensembl chr13:121,570,591...121,608,139 		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 chr 5:17,862,047...17,868,397
Ensembl chr 5:17,862,051...17,868,402 		JBrowse link
G LOC110255312 keratin, type I cytoskeletal 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 chr12:21,074,965...21,079,393
Ensembl chr12:21,074,850...21,079,391 		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 7:28,812,423...29,300,149
Ensembl chr 7:28,812,252...29,300,152 		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 chr 5:17,862,047...17,868,397
Ensembl chr 5:17,862,051...17,868,402 		JBrowse link
G LOC110255312 keratin, type I cytoskeletal 14 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive OMIM
ClinVar		 PMID:7525407 PMID:7525408 PMID:7526933 PMID:8875963 PMID:10971341 More... NCBI chr12:21,074,965...21,079,393
Ensembl chr12:21,074,850...21,079,391 		JBrowse link
Generalized Epidermolysis Bullosa Simplex 2B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KRT5 keratin 5 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 2B, generalized intermediate OMIM
ClinVar		 PMID:1718160 PMID:7534039 PMID:7686424 PMID:9740251 PMID:10354017 More... NCBI chr 5:17,862,047...17,868,397
Ensembl chr 5:17,862,051...17,868,402 		JBrowse link
Generalized Epidermolysis Bullosa Simplex 2D term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KRT5 keratin 5 ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX 2D, GENERALIZED SEVERE, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Epidermolysis bullosa simplex 2d, generalized, intermediate or severe, autosomal recessive OMIM
ClinVar		 PMID:16465624 PMID:20199538 PMID:25741868 PMID:31302245 PMID:31312705 NCBI chr 5:17,862,047...17,868,397
Ensembl chr 5:17,862,051...17,868,402 		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 chr13:121,564,833...121,608,146
Ensembl chr13:121,570,591...121,608,139 		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 chr 5:17,862,047...17,868,397
Ensembl chr 5:17,862,051...17,868,402 		JBrowse link
G LOC110255312 keratin, type I cytoskeletal 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 chr12:21,074,965...21,079,393
Ensembl chr12:21,074,850...21,079,391 		JBrowse link
Generalized Severe Epidermolysis Bullosa Simplex 2A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KRT5 keratin 5 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 2A, generalized severe OMIM
ClinVar		 PMID:1372711 PMID:8757772 PMID:9036937 PMID:10234505 PMID:10383750 More... NCBI chr 5:17,862,047...17,868,397
Ensembl chr 5:17,862,051...17,868,402 		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 chr13:1,461,562...1,580,035
Ensembl chr13:1,438,615...1,612,676 		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 chr 6:114,916,759...114,963,688
Ensembl chr 6:114,916,767...114,963,609 		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 chr14:114,959,404...115,007,734
Ensembl chr14:114,959,411...115,064,783 		JBrowse link
G GALK1 galactokinase 1 ISO ClinVar Annotator: match by term: Junctional epidermolysis bullosa ClinVar PMID:9792864 PMID:11886501 NCBI chr12:5,642,012...5,651,186
Ensembl chr12:5,642,025...5,651,183 		JBrowse link
G ITGA6 integrin subunit alpha 6 ISO ClinVar Annotator: match by term: Junctional epidermolysis bullosa ClinVar PMID:21357940 PMID:25741868 NCBI chr15:78,504,108...78,591,779
Ensembl chr15:78,504,078...78,591,777 		JBrowse link
G ITGB4 integrin subunit beta 4 ISO ClinVar Annotator: match by term: Junctional epidermolysis bullosa ClinVar PMID:9792864 PMID:11886501 NCBI chr12:5,651,292...5,685,601
Ensembl chr12:5,651,292...5,685,611 		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 chr 6:108,548,818...108,805,700
Ensembl chr 6:108,548,715...108,805,690 		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 chr 9:133,298,009...133,351,162
Ensembl chr 9:133,311,834...133,351,197 		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 chr 9:124,427,545...124,499,672
Ensembl chr 9:124,435,807...124,495,351 		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 chr14:114,959,404...115,007,734
Ensembl chr14:114,959,411...115,064,783 		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 chr 6:108,548,818...108,805,700
Ensembl chr 6:108,548,715...108,805,690 		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 chr 9:133,298,009...133,351,162
Ensembl chr 9:133,311,834...133,351,197 		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 chr 6:108,548,818...108,805,700
Ensembl chr 6:108,548,715...108,805,690 		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 chr 9:133,298,009...133,351,162
Ensembl chr 9:133,311,834...133,351,197 		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 chr 9:124,427,545...124,499,672
Ensembl chr 9:124,435,807...124,495,351 		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 chr 6:108,548,818...108,805,700
Ensembl chr 6:108,548,715...108,805,690 		JBrowse link
Junctional Epidermolysis Bullosa 2B, Severe term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LAMA3 laminin subunit alpha 3 ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 2B, HERLITZ TYPE | ClinVar Annotator: match by term: Epidermolysis bullosa, junctional 2B, severe OMIM
ClinVar		 PMID:7633458 PMID:8530087 PMID:8586427 PMID:8618022 PMID:8824879 More... NCBI chr 6:108,548,818...108,805,700
Ensembl chr 6:108,548,715...108,805,690 		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 chr 6:108,548,818...108,805,700
Ensembl chr 6:108,548,715...108,805,690 		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 chr 9:124,427,545...124,499,672
Ensembl chr 9:124,435,807...124,495,351 		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 OMIM
ClinVar		 PMID:7849725 PMID:8012114 PMID:8012393 PMID:8012394 PMID:8824879 More... NCBI chr 9:124,427,545...124,499,672
Ensembl chr 9:124,435,807...124,495,351 		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 chr14:114,959,404...115,007,734
Ensembl chr14:114,959,411...115,064,783 		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 chr12:5,642,012...5,651,186
Ensembl chr12:5,642,025...5,651,183 		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 chr12:5,651,292...5,685,601
Ensembl chr12:5,651,292...5,685,611 		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 chr12:26,234,769...26,269,327
Ensembl chr12:26,235,258...26,269,324 		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 chr15:78,504,108...78,591,779
Ensembl chr15:78,504,078...78,591,777 		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 chr 6:108,548,818...108,805,700
Ensembl chr 6:108,548,715...108,805,690 		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 chr 9:133,298,009...133,351,162
Ensembl chr 9:133,311,834...133,351,197 		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 chr 9:124,427,545...124,499,672
Ensembl chr 9:124,435,807...124,495,351 		JBrowse link
G SLC2A1 solute carrier family 2 member 1 ISO ClinVar Annotator: match by term: Herlitz-type junctional epidermolysis bullosa ClinVar PMID:20129935 PMID:25564316 PMID:25741868 PMID:25982116 PMID:26537434 More... NCBI chr 6:168,535,398...168,561,170
Ensembl chr 6:168,535,440...168,560,867 		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 chr14:114,959,404...115,007,734
Ensembl chr14:114,959,411...115,064,783 		JBrowse link
G GALK1 galactokinase 1 ISO ClinVar Annotator: match by term: Junctional epidermolysis bullosa, non-Herlitz type ClinVar PMID:25741868 PMID:28492532 NCBI chr12:5,642,012...5,651,186
Ensembl chr12:5,642,025...5,651,183 		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 chr12:5,651,292...5,685,601
Ensembl chr12:5,651,292...5,685,611 		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 chr 6:108,548,818...108,805,700
Ensembl chr 6:108,548,715...108,805,690 		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 chr 9:133,298,009...133,351,162
Ensembl chr 9:133,311,834...133,351,197 		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 chr 9:124,427,545...124,499,672
Ensembl chr 9:124,435,807...124,495,351 		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 chr12:5,642,012...5,651,186
Ensembl chr12:5,642,025...5,651,183 		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 chr15:78,504,108...78,591,779
Ensembl chr15:78,504,078...78,591,777 		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 chr12:5,651,292...5,685,601
Ensembl chr12:5,651,292...5,685,611 		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 1:89,992,860...90,137,767
Ensembl chr 1:89,992,866...90,137,734 		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 chr 4:696,355...753,859
Ensembl chr 4:689,034...753,696 		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 chr17:15,080,585...15,137,947
Ensembl chr17:15,080,587...15,137,753 		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 chr12:5,642,012...5,651,186
Ensembl chr12:5,642,025...5,651,183 		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 chr12:5,651,292...5,685,601
Ensembl chr12:5,651,292...5,685,611 		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 chr 5:17,862,047...17,868,397
Ensembl chr 5:17,862,051...17,868,402 		JBrowse link
G LOC110255312 keratin, type I cytoskeletal 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 chr12:21,074,965...21,079,393
Ensembl chr12:21,074,850...21,079,391 		JBrowse link
Localized Epidermolysis Bullosa Simplex 2C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KRT5 keratin 5 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 2C, Weber-Cockayne type | ClinVar Annotator: match by term: Epidermolysis bullosa simplex 2C, localized | ClinVar Annotator: match by term: Epidermolysis bullosa simplex 2C, localized, modifier of OMIM
ClinVar		 PMID:7520042 PMID:7537780 PMID:7688477 PMID:8807337 PMID:11973334 More... NCBI chr 5:17,862,047...17,868,397
Ensembl chr 5:17,862,051...17,868,402 		JBrowse link
pemphigus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C3 complement C3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:74171 NCBI chr 2:72,431,470...72,471,622
Ensembl chr 2:72,431,212...72,472,228 		JBrowse link
G CAST calpastatin ISO RGD PMID:16314468 RGD:5509814 NCBI chr 2:103,255,738...103,378,623
Ensembl chr 2:103,255,750...103,378,623 		JBrowse link
G CAT catalase ISO protein:increased activities:skin: RGD PMID:22738420 RGD:9479165 NCBI chr 2:26,493,664...26,533,881
Ensembl chr 2:26,487,653...26,581,452 		JBrowse link
G CD36 CD36 molecule ISO RGD PMID:21255096 RGD:5490304 NCBI chr 9:99,685,748...99,782,296
Ensembl chr 9:99,605,181...99,782,105 		JBrowse link
G CD40 CD40 molecule ISO RGD PMID:21255096 RGD:5490304 NCBI chr17:48,286,116...48,298,188
Ensembl chr17:48,286,029...48,298,528 		JBrowse link
G CD40LG CD40 ligand ISO mRNA, protein:increased expression:skin, serum RGD PMID:17531537 RGD:8547773 NCBI chr  X:111,778,666...111,788,901
Ensembl chr  X:111,778,493...111,789,709 		JBrowse link
G IL2 interleukin 2 ISO RGD PMID:6432916 RGD:8693324 NCBI chr 8:101,640,938...101,645,683
Ensembl chr 8:101,640,944...101,645,609 		JBrowse link
G MBL2 mannose binding lectin 2 ISO protein:increased expression:skin: RGD PMID:21327568 RGD:8693728 NCBI chr14:97,103,926...97,107,635
Ensembl chr14:97,102,823...97,108,083 		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 chr 6:115,352,005...115,383,750
Ensembl chr 6:115,351,925...115,383,743 		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 chr13:31,262,750...31,295,112 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 chr13:31,262,750...31,295,112 JBrowse link
G GRIP1 glutamate receptor interacting protein 1 ISO OMIM:226600 MouseDO NCBI chr 5:30,697,018...31,175,412
Ensembl chr 5:30,697,040...31,020,901 		JBrowse link
G MMP1 matrix metallopeptidase 1 ISO ClinVar Annotator: match by term: Recessive dystrophic epidermolysis bullosa ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:33,411,738...33,420,205
Ensembl chr 9:33,411,065...33,420,076 		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 8:69,643,427...69,663,152
Ensembl chr 8:69,531,487...69,721,696 		JBrowse link
G APCS amyloid P component, serum ISO CTD Direct Evidence: marker/mechanism CTD PMID:34142820 NCBI chr 4:90,900,585...90,901,854
Ensembl chr 4:90,898,689...90,901,874 		JBrowse link
G C1QA complement C1q A chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:34142820 NCBI chr 6:80,586,259...80,589,213
Ensembl chr 6:80,586,280...80,589,204 		JBrowse link
G C1QC complement C1q C chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:34142820 NCBI chr 6:80,592,591...80,597,464
Ensembl chr 6:80,592,473...80,597,452 		JBrowse link
G CAV1 caveolin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr18:29,648,120...29,682,451
Ensembl chr18:29,649,992...29,682,465 		JBrowse link
G CELF2 CUGBP Elav-like family member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr10:60,504,925...60,867,631
Ensembl chr10:60,506,504...61,084,960 		JBrowse link
G CFP complement factor properdin ISO CTD Direct Evidence: marker/mechanism CTD PMID:34142820 NCBI chr  X:42,145,754...42,152,879
Ensembl chr  X:42,143,697...42,152,868 		JBrowse link
G CLU clusterin ISO mRNA:decreased expression:conjunctiva RGD PMID:12036968 RGD:8699507 NCBI chr14:11,336,585...11,352,569
Ensembl chr14:11,336,595...11,349,764 		JBrowse link
G COPS5 COP9 signalosome subunit 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 4:67,740,528...67,758,153
Ensembl chr 4:67,739,251...67,758,150 		JBrowse link
G CRP C-reactive protein, pentraxin-related ISO CTD Direct Evidence: marker/mechanism CTD PMID:34142820 NCBI chr 4:90,793,361...90,801,020
Ensembl chr 4:90,793,350...90,805,218 		JBrowse link
G CSF3 colony stimulating factor 3 ISO CTD Direct Evidence: therapeutic CTD PMID:11321886 NCBI chr12:22,333,445...22,335,949
Ensembl chr12:22,333,449...22,338,753 		JBrowse link
G CTNNB1 catenin beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr13:25,163,550...25,208,314
Ensembl chr13:25,164,277...25,208,311 		JBrowse link
G CUL1 cullin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 9:109,454,523...109,559,114
Ensembl chr 9:109,454,534...109,557,649 		JBrowse link
G CUL4A cullin 4A ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr11:78,557,030...78,588,964
Ensembl chr11:78,557,013...78,589,193 		JBrowse link
G DERL1 derlin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 4:16,310,407...16,341,405
Ensembl chr 4:16,310,314...16,341,433 		JBrowse link
G ELMO1 engulfment and cell motility 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr18:36,755,026...37,336,095
Ensembl chr18:36,786,378...37,347,283 		JBrowse link
G EP300 E1A binding protein p300 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 5:7,311,165...7,394,515
Ensembl chr 5:7,311,171...7,393,760 		JBrowse link
G FBXO6 F-box protein 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 6:71,755,335...71,774,264
Ensembl chr 6:71,768,498...71,774,243 		JBrowse link
G IFNG interferon gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 5:32,477,906...32,482,670
Ensembl chr 5:32,477,906...32,482,670 		JBrowse link
G LBP lipopolysaccharide binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:34142820 NCBI chr17:41,398,935...41,429,467
Ensembl chr17:41,398,791...41,429,551 		JBrowse link
G LRG1 leucine rich alpha-2-glycoprotein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34142820 NCBI chr 2:74,300,598...74,303,117
Ensembl chr 2:74,300,619...74,314,315 		JBrowse link
G MIF macrophage migration inhibitory factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:9372356 NCBI chr14:49,840,303...49,841,063
Ensembl chr14:49,840,305...49,841,068 		JBrowse link
G MIR18A microRNA mir-18a ISO CTD Direct Evidence: marker/mechanism CTD PMID:34142820 NCBI chr11:60,734,791...60,734,882
Ensembl chr11:60,734,791...60,734,882 		JBrowse link
G NEDD4 NEDD4 E3 ubiquitin protein ligase ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 1:115,941,945...116,069,884
Ensembl chr 1:115,941,940...116,070,305 		JBrowse link
G NFKBIZ NFKB inhibitor zeta ISO MouseDO NCBI chr13:157,261,419...157,273,119
Ensembl chr13:157,261,419...157,272,688 		JBrowse link
G NOS2 nitric oxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10620138 NCBI chr12:44,174,944...44,219,875
Ensembl chr12:44,174,948...44,218,146 		JBrowse link
G NUCB1 nucleobindin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 6:54,186,610...54,209,457
Ensembl chr 6:54,180,038...54,209,930 		JBrowse link
G ORM1 orosomucoid 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34142820 NCBI chr 1:254,939,154...254,943,065 JBrowse link
G PARP1 poly(ADP-ribose) polymerase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr10:14,203,157...14,241,164
Ensembl chr10:14,203,160...14,241,196 		JBrowse link
G PML PML nuclear body scaffold ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 7:59,405,044...59,450,155
Ensembl chr 7:59,405,053...59,450,105 		JBrowse link
G PROS1 protein S ISO CTD Direct Evidence: marker/mechanism CTD PMID:34142820 NCBI chr13:165,915,298...165,999,118
Ensembl chr13:165,911,366...165,999,811 		JBrowse link
G PSMC5 proteasome 26S subunit, ATPase 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr12:15,101,946...15,106,326
Ensembl chr12:15,101,859...15,106,213 		JBrowse link
G PTGER3 prostaglandin E receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21966456 NCBI chr 6:141,958,955...142,160,437
Ensembl chr 6:141,958,955...142,161,286 		JBrowse link
G PTGIS prostaglandin I2 synthase ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr17:51,153,151...51,200,515
Ensembl chr17:51,153,154...51,200,300 		JBrowse link
G RB1 RB transcriptional corepressor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr11:19,186,754...19,317,642
Ensembl chr11:19,186,761...19,317,690 		JBrowse link
G RBX1 ring-box 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 5:7,500,492...7,515,388
Ensembl chr 5:7,500,490...7,515,370 		JBrowse link
G SLA-3 MHC class I antigen 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19629158 NCBI chr 7:22,938,211...22,942,735 JBrowse link
G TNF tumor necrosis factor ISO protein:increased expression:blister: RGD PMID:9852250 RGD:7401184 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,415 		JBrowse link
G VCP valosin containing protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 1:235,854,532...235,869,712
Ensembl chr 1:235,851,206...235,869,634 		JBrowse link
G VWF von Willebrand factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:34142820 NCBI chr 5:64,516,627...64,655,938
Ensembl chr 5:64,517,555...64,655,938 		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 chr13:31,262,750...31,295,112 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 chr17:15,080,585...15,137,947
Ensembl chr17:15,080,587...15,137,753 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15429
    sensory system disease 6942
      skin disease 4060
        dermatitis 499
          bullous skin disease 156
            pemphigoid + 12
            pemphigus + 10
            subcorneal pustular dermatosis 0
            vesiculobullous skin disease + 144
Path 2
Term Annotations click to browse term
  disease 15429
    Pathological Conditions, Signs and Symptoms 12090
      Signs and Symptoms 10144
        Neurologic Manifestations 9824
          sensory system disease 6942
            skin disease 4060
              dermatitis 499
                bullous skin disease 156
                  pemphigoid + 12
                  pemphigus + 10
                  subcorneal pustular dermatosis 0
                  vesiculobullous skin disease + 144
paths to the root