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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 IAGP
ISS
EXP
ClinVar Annotator: match by term: Atrichia with papular lesions
ClinVar Annotator: match by term: Atrichia with papular lesions | ClinVar Annotator: match by term: Papular Atrichia
OMIM:209500
CTD Direct Evidence: marker/mechanism
ClinVar
MouseDO
CTD
OMIM
PMID:8790387 PMID:9445480 PMID:9736769 PMID:9758627 PMID:9856480 More... NCBI chr 8:22,114,419...22,131,052
Ensembl chr 8:22,114,419...22,133,384
JBrowse link
G HRURF HR upstream open reading frame IAGP ClinVar Annotator: match by term: Atrichia with papular lesions ClinVar PMID:25741868 NCBI chr 8:22,130,458...22,131,010
Ensembl chr 8:22,130,458...22,131,010
JBrowse link
G ODC1 ornithine decarboxylase 1 ISS OMIM:209500 MouseDO NCBI chr 2:10,439,968...10,448,327
Ensembl chr 2:10,439,968...10,448,327
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 IAGP
EXP
ClinVar Annotator: match by term: Epidermolysis bullosa dystrophica, autosomal dominant
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:1680286 PMID:2425097 PMID:5910871 PMID:7577595 PMID:7695699 More... NCBI chr 3:48,564,073...48,595,329
Ensembl chr 3:48,564,073...48,595,329
JBrowse link
G ITGB4 integrin subunit beta 4 IAGP ClinVar Annotator: match by term: Cockayne-Touraine type epidermolysis bullosa ClinVar PMID:25741868 PMID:28492532 NCBI chr17:75,721,459...75,757,818
Ensembl chr17:75,721,328...75,757,818
JBrowse link
G KRT14 keratin 14 IAGP ClinVar Annotator: match by term: Cockayne-Touraine type epidermolysis bullosa ClinVar PMID:25741868 PMID:28492532 NCBI chr17:41,582,279...41,586,895
Ensembl chr17:41,582,279...41,586,895
JBrowse link
G KRT5 keratin 5 IAGP ClinVar Annotator: match by term: Cockayne-Touraine type epidermolysis bullosa ClinVar PMID:7520042 PMID:7537780 PMID:7688477 PMID:8807337 PMID:9036937 More... NCBI chr12:52,514,575...52,520,394
Ensembl chr12:52,514,575...52,520,530
JBrowse link
G LOC126861525 BRD4-independent group 4 enhancer GRCh37_chr12:52909857-52911056 IAGP ClinVar Annotator: match by term: Cockayne-Touraine type epidermolysis bullosa ClinVar PMID:9036937 PMID:16098032 PMID:16601668 PMID:16882168 PMID:20030639 More... NCBI chr12:52,516,073...52,517,272 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 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19167455 NCBI chr 2:9,488,486...9,555,830
Ensembl chr 2:9,488,486...9,556,732
JBrowse link
G ANXA1 annexin A1 IEP associated with Hypersensitivity, Delayed;protein:increased expression:mononuclear cell RGD PMID:10331485 RGD:7421575 NCBI chr 9:73,151,865...73,170,393
Ensembl chr 9:73,151,865...73,170,629
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 IAGP ClinVar Annotator: match by term: Blistering, acantholytic, of oral and laryngeal mucosa OMIM
ClinVar
PMID:25741868 PMID:30528827 NCBI chr18:31,447,741...31,478,702
Ensembl chr18:31,447,741...31,478,702
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 IEP protein:increased expression:blister, serum (human) RGD PMID:21881593 RGD:11087555 NCBI chr 7:75,769,524...75,791,597
Ensembl chr 7:75,769,533...75,789,896
JBrowse link
G CFB complement factor B ISO RGD PMID:17024247 RGD:7421522 NCBI chr 6:31,946,095...31,952,084
Ensembl chr 6:31,945,650...31,952,086
JBrowse link
G CXCL8 C-X-C motif chemokine ligand 8 ISO
EXP
CTD Direct Evidence: marker/mechanism CTD PMID:11359455 NCBI chr 4:73,740,569...73,743,716
Ensembl chr 4:73,740,519...73,743,716
JBrowse link
G F2 coagulation factor II, thrombin IEP protein:increased expression:plasma RGD PMID:21488867 RGD:5147756 NCBI chr11:46,719,213...46,739,506
Ensembl chr11:46,719,196...46,739,506
JBrowse link
G ICAM1 intercellular adhesion molecule 1 IEP RGD PMID:1377725 RGD:8547591 NCBI chr19:10,271,120...10,286,615
Ensembl chr19:10,271,093...10,286,615
JBrowse link
G IL2 interleukin 2 IDA RGD PMID:1973607 RGD:8663461 NCBI chr 4:122,451,470...122,456,725
Ensembl chr 4:122,451,470...122,456,725
JBrowse link
G MMP9 matrix metallopeptidase 9 ISO RGD PMID:9687525 RGD:8547843 NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561
JBrowse link
G VEGFA vascular endothelial growth factor A IEP mRNA:increased expression: : RGD PMID:7738351 RGD:7421578 NCBI chr 6:43,770,211...43,786,487
Ensembl chr 6:43,770,184...43,786,487
JBrowse link
cicatricial pemphigoid term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLU clusterin IEP mRNA:decreased expression:conjunctiva RGD PMID:12036968 RGD:8699507 NCBI chr 8:27,596,917...27,614,700
Ensembl chr 8:27,596,917...27,614,700
JBrowse link
G HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 susceptibility IAGP DNA:polymorphisms, haplotypes:cds:HLA-DQB1*0301, HLA-DQB1*0201 (human)
DNA:polymorphism:cds:HLA-DQB1*0301 (human)
RGD PMID:9683867 PMID:9008223 RGD:7365096, RGD:7483589 NCBI chr 6:32,659,467...32,666,657
Ensembl chr 6:32,659,467...32,668,383
JBrowse link
G HLA-DRB1 major histocompatibility complex, class II, DR beta 1 susceptibility IAGP DNA:polymorphism: :DRB1*1101, DRB1*0701(human)
DNA:polymorphism: :HLA-DRB1*04(human)
RGD PMID:9683867 PMID:8052655 RGD:7365096, RGD:7365103 NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848
JBrowse link
G IL1RN interleukin 1 receptor antagonist IEP protein:increased expression:serum (human) RGD PMID:11448121 RGD:8549794 NCBI chr 2:113,099,360...113,134,014
Ensembl chr 2:113,099,315...113,134,016
JBrowse link
G PTGER3 prostaglandin E receptor 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21966456 NCBI chr 1:70,852,358...71,047,816
Ensembl chr 1:70,852,353...71,047,816
JBrowse link
G TNF tumor necrosis factor IEP protein:increased expression:Conjunctiva: RGD PMID:7750940 RGD:7394786 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
JBrowse link
dermatitis herpetiformis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ELN elastin IDA RGD PMID:8256113 RGD:9585750 NCBI chr 7:74,028,173...74,069,907
Ensembl chr 7:74,027,789...74,069,907
JBrowse link
G LTA lymphotoxin alpha IAGP DNA:polymorphism RGD PMID:7914110 RGD:8548777 NCBI chr 6:31,560,610...31,574,324
Ensembl chr 6:31,572,054...31,574,324
JBrowse link
G TNF tumor necrosis factor IAGP DNA:polymorphism:promoter RGD PMID:7914110 RGD:8548777 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
JBrowse link
G VEGFA vascular endothelial growth factor A IEP mRNA:increased expression: : RGD PMID:7738351 RGD:7421578 NCBI chr 6:43,770,211...43,786,487
Ensembl chr 6:43,770,184...43,786,487
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 IEP protein:increased expression:skin, sebocyte (human) RGD PMID:22206772 RGD:11081159 NCBI chr 7:75,769,524...75,791,597
Ensembl chr 7:75,769,533...75,789,896
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 IAGP ClinVar Annotator: match by term: Epidermolysis bullosa ClinVar PMID:10504458 PMID:16971478 PMID:25741868 PMID:28492532 NCBI chr 3:48,564,073...48,595,329
Ensembl chr 3:48,564,073...48,595,329
JBrowse link
G EXPH5 exophilin 5 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr11:108,505,435...108,607,536
Ensembl chr11:108,505,435...108,593,768
JBrowse link
G ITGA6 integrin subunit alpha 6 IAGP ClinVar Annotator: match by term: Epidermolysis bullosa ClinVar PMID:14675179 PMID:25741868 NCBI chr 2:172,427,336...172,506,459
Ensembl chr 2:172,234,216...172,506,459
JBrowse link
G ITGB4 integrin subunit beta 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18348258 NCBI chr17:75,721,459...75,757,818
Ensembl chr17:75,721,328...75,757,818
JBrowse link
G KRT5 keratin 5 IAGP ClinVar Annotator: match by term: Epidermolysis bullosa ClinVar PMID:25741868 NCBI chr12:52,514,575...52,520,394
Ensembl chr12:52,514,575...52,520,530
JBrowse link
G LAMB3 laminin subunit beta 3 IAGP ClinVar Annotator: match by term: Epidermolysis bullosa ClinVar PMID:25741868 NCBI chr 1:209,614,870...209,652,425
Ensembl chr 1:209,614,870...209,652,425
JBrowse link
G LOC126861526 BRD4-independent group 4 enhancer GRCh37_chr12:52912066-52913265 IAGP ClinVar Annotator: match by term: Epidermolysis bullosa ClinVar PMID:25741868 NCBI chr12:52,518,282...52,519,481 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 IAGP
EXP
DNA:insertion-deletion
ClinVar Annotator: match by term: Dystrophic epidermolysis bullosa | ClinVar Annotator: match by term: Epidermolysis bullosa dystrophica
ClinVar Annotator: match by term: epidermolysis bullosa dystrophica, autosomal recessive
ClinVar Annotator: match by term: Epidermolysis bullosa dystrophica | ClinVar Annotator: match by term: Hallopeau-Siemens Disease | ClinVar Annotator: match by term: epidermolysis bullosa dystrophica, autosomal recessive
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE
ClinVar
CTD
OMIM
RGD
PMID:2425097 PMID:5910871 PMID:7577595 PMID:7695699 PMID:7833933 More... RGD:1600946 NCBI chr 3:48,564,073...48,595,329
Ensembl chr 3:48,564,073...48,595,329
JBrowse link
G IGFBP3 insulin like growth factor binding protein 3 IEP mRNA,protein:decreased expression:skin: RGD PMID:15140235 RGD:12743601 NCBI chr 7:45,912,245...45,921,272
Ensembl chr 7:45,912,245...45,921,874
JBrowse link
G MIR711 microRNA 711 IAGP ClinVar Annotator: match by term: Epidermolysis bullosa dystrophica ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:48,578,902...48,578,977
Ensembl chr 3:48,578,902...48,578,977
JBrowse link
G MMP1 matrix metallopeptidase 1 severity IAGP DNA:insertion:promoter:g.-1607_-1606insG (human)
ClinVar Annotator: match by term: Hallopeau-Siemens Disease
ClinVar
RGD
PMID:25741868 PMID:28492532 PMID:18030675 RGD:8549728 NCBI chr11:102,789,919...102,798,160
Ensembl chr11:102,789,401...102,798,160
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 IAGP ClinVar Annotator: match by term: Epidermolysis bullosa dystrophica, autosomal recessive, localisata variant ClinVar PMID:7695699 PMID:8218237 PMID:8755915 PMID:9536098 PMID:9804332 More... NCBI chr 3:48,564,073...48,595,329
Ensembl chr 3:48,564,073...48,595,329
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 IAGP
EXP
ClinVar Annotator: match by term: Epidermolysis bullosa pruriginosa, autosomal dominant
ClinVar Annotator: match by term: DYSTROPHIC EPIDERMOLYSIS BULLOSA PRURIGINOSA
ClinVar Annotator: match by term: DYSTROPHIC EPIDERMOLYSIS BULLOSA PRURIGINOSA | ClinVar Annotator: match by term: Epidermolysis bullosa pruriginosa
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Epidermolysis bullosa pruriginosa, autosomal recessive
ClinVar
CTD
OMIM
PMID:7695699 PMID:7833933 PMID:8088783 PMID:8218237 PMID:8618004 More... NCBI chr 3:48,564,073...48,595,329
Ensembl chr 3:48,564,073...48,595,329
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 IAGP ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Cockayne-Touraine type ClinVar PMID:25741868 PMID:28492532 NCBI chr17:75,721,459...75,757,818
Ensembl chr17:75,721,328...75,757,818
JBrowse link
G KRT14 keratin 14 susceptibility IAGP
ISS
EXP
DNA:point mutations
ClinVar Annotator: match by term: Epidermolysis bullosa simplex
ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Cockayne-Touraine type
OMIM:601001 | OMIM:615425
ClinVar Annotator: match by term: Epidermolysis bullosa simplex, autosomal recessive
CTD Direct Evidence: marker/mechanism
ClinVar
MouseDO
CTD
RGD
PMID:1717157 PMID:7682883 PMID:8601736 PMID:10583131 PMID:10733662 More... RGD:1600173 NCBI chr17:41,582,279...41,586,895
Ensembl chr17:41,582,279...41,586,895
JBrowse link
G KRT5 keratin 5 susceptibility IAGP
EXP
DNA:mutation
ClinVar Annotator: match by term: Epidermolysis bullosa simplex
ClinVar Annotator: match by term: Epidermolysis bullosa simplex | ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Cockayne-Touraine type
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:421361 PMID:1049409 PMID:1718160 PMID:2476664 PMID:6457621 More... RGD:1600195 NCBI chr12:52,514,575...52,520,394
Ensembl chr12:52,514,575...52,520,530
JBrowse link
G LOC126861525 BRD4-independent group 4 enhancer GRCh37_chr12:52909857-52911056 IAGP ClinVar Annotator: match by term: Epidermolysis bullosa simplex
ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Cockayne-Touraine type
ClinVar PMID:1718160 PMID:7686424 PMID:8595431 PMID:9036937 PMID:16098032 More... NCBI chr12:52,516,073...52,517,272 JBrowse link
G LOC126861526 BRD4-independent group 4 enhancer GRCh37_chr12:52912066-52913265 IAGP ClinVar Annotator: match by term: Epidermolysis bullosa simplex ClinVar PMID:7682695 PMID:8807337 PMID:11407988 PMID:11973334 PMID:16882168 More... NCBI chr12:52,518,282...52,519,481 JBrowse link
G MMP9 matrix metallopeptidase 9 IEP RGD PMID:23894602 RGD:13204851 NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561
JBrowse link
G PLEC plectin IAGP DNA:deletions: ; 2719de19, 5866delC; associated with muscular dystrophies
ClinVar Annotator: match by term: Epidermolysis bullosa simplex
ClinVar
RGD
PMID:11851880 PMID:23289980 PMID:25741868 PMID:28492532 PMID:8894687 RGD:1599911 NCBI chr 8:143,915,153...143,976,745
Ensembl chr 8:143,915,153...143,976,734
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 IAGP
EXP
ClinVar Annotator: match by term: Epidermolysis bullosa simplex with migratory circinate erythema
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX 2E, WITH MIGRATORY CIRCINATE ERYTHEMA
OMIM
ClinVar
CTD
PMID:7520042 PMID:8807337 PMID:9036937 PMID:12925204 PMID:15324323 More... NCBI chr12:52,514,575...52,520,394
Ensembl chr12:52,514,575...52,520,530
JBrowse link
G LOC126861525 BRD4-independent group 4 enhancer GRCh37_chr12:52909857-52911056 IAGP ClinVar Annotator: match by term: Epidermolysis bullosa simplex with migratory circinate erythema ClinVar PMID:25741868 PMID:29180315 NCBI chr12:52,516,073...52,517,272 JBrowse link
G LOC126861526 BRD4-independent group 4 enhancer GRCh37_chr12:52912066-52913265 IAGP ClinVar Annotator: match by term: Epidermolysis bullosa simplex with migratory circinate erythema ClinVar PMID:25741868 PMID:28492532 NCBI chr12:52,518,282...52,519,481 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 IAGP ClinVar Annotator: match by term: Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
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: 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, autosomal recessive 2
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, autosomal recessive 2
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
ClinVar
OMIM
PMID:9536098 PMID:17576681 PMID:20164846 PMID:22113475 PMID:22522446 More... NCBI chr 6:56,457,996...56,954,830
Ensembl chr 6:56,457,987...56,954,830
JBrowse link
G DST-AS1 DST antisense RNA 1 IAGP ClinVar Annotator: match by term: DST-related condition ClinVar NCBI chr 6:56,843,986...56,864,338 JBrowse link
G LOC129389544 MPRA-validated peak5860 silencer IAGP ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX 3, LOCALIZED OR GENERALIZED INTERMEDIATE, WITH BP230 DEFICIENCY ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:56,561,318...56,561,518 JBrowse link
G LOC129996656 ATAC-STARR-seq lymphoblastoid active region 24702 IAGP ClinVar Annotator: match by term: Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
ClinVar Annotator: match by term: DST-related condition
ClinVar Annotator: match by term: Epidermolysis bullosa simplex, autosomal recessive 2
ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:56,593,891...56,594,150 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 IAGP 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 chr11:108,505,435...108,607,536
Ensembl chr11:108,505,435...108,593,768
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 LOC130001334 ATAC-STARR-seq lymphoblastoid silent region 19628 IAGP ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5C, with pyloric atresia ClinVar PMID:15681471 NCBI chr 8:143,933,758...143,934,037 JBrowse link
G LOC130001338 ATAC-STARR-seq lymphoblastoid active region 28078 IAGP ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5C, with pyloric atresia
ClinVar Annotator: match by term: Epidermolysis bullosa simplex with pyloric atresia
ClinVar PMID:25712130 PMID:25741868 PMID:26467025 NCBI chr 8:143,939,334...143,939,573 JBrowse link
G PLEC plectin IAGP
EXP
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 5C, with pyloric atresia | ClinVar Annotator: match by term: Epidermolysis bullosa simplex with pyloric atresia
ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX 5C, WITH PYLORIC ATRESIA | ClinVar Annotator: match by term: Epidermolysis bullosa simplex with pyloric atresia
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:9536098 PMID:11851880 PMID:14675180 PMID:15206692 PMID:15654962 More... NCBI chr 8:143,915,153...143,976,745
Ensembl chr 8:143,915,153...143,976,734
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 IAGP ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy ClinVar PMID:25741868 NCBI chr 4:147,732,088...148,072,776
Ensembl chr 4:147,732,063...148,072,776
JBrowse link
G BCLAF1 BCL2 associated transcription factor 1 IAGP ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy ClinVar NCBI chr 6:136,256,627...136,289,846
Ensembl chr 6:136,256,627...136,289,851
JBrowse link
G CCDST cervical cancer associated DHX9 suppressive transcript IAGP ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy ClinVar PMID:25741868 NCBI chr 1:152,189,303...152,366,692
Ensembl chr 1:152,165,553...152,445,456
JBrowse link
G DCUN1D2 defective in cullin neddylation 1 domain containing 2 IAGP ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy ClinVar NCBI chr13:113,455,819...113,491,563
Ensembl chr13:113,455,819...113,490,951
JBrowse link
G FREM2 FRAS1 related extracellular matrix 2 IAGP ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy ClinVar PMID:28492532 NCBI chr13:38,687,077...38,887,131
Ensembl chr13:38,687,077...38,887,131
JBrowse link
G GPR33 G protein-coupled receptor 33 IAGP ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy ClinVar NCBI chr14:31,482,875...31,488,039
Ensembl chr14:31,482,875...31,488,039
JBrowse link
G HRNR hornerin IAGP ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy ClinVar PMID:25741868 NCBI chr 1:152,212,076...152,224,193
Ensembl chr 1:152,212,076...152,224,193
JBrowse link
G IDS iduronate 2-sulfatase IAGP ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy ClinVar NCBI chr  X:149,476,988...149,505,306
Ensembl chr  X:149,476,988...149,521,096
JBrowse link
G LOC130001338 ATAC-STARR-seq lymphoblastoid active region 28078 IAGP ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy ClinVar PMID:25712130 PMID:25741868 PMID:26467025 NCBI chr 8:143,939,334...143,939,573 JBrowse link
G LOC130001342 ATAC-STARR-seq lymphoblastoid silent region 19633 IAGP ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy ClinVar PMID:25741868 NCBI chr 8:143,942,381...143,942,840 JBrowse link
G PLEC plectin IAGP 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 8:143,915,153...143,976,745
Ensembl chr 8:143,915,153...143,976,734
JBrowse link
G RP1L1 RP1 like 1 IAGP ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy ClinVar NCBI chr 8:10,606,349...10,655,143
Ensembl chr 8:10,606,349...10,712,187
JBrowse link
G TMEM249 transmembrane protein 249 IAGP ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy ClinVar NCBI chr 8:144,353,228...144,354,931
Ensembl chr 8:144,352,219...144,354,954
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) IAGP
EXP
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 7, with nephropathy and deafness
ClinVar Annotator: match by term: CD151-related condition | ClinVar Annotator: match by term: Epidermolysis bullosa simplex 7, with nephropathy and deafness
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:9536098 PMID:15265795 PMID:17576681 PMID:25741868 PMID:25741871 More... NCBI chr11:832,952...838,831
Ensembl chr11:832,887...839,831
JBrowse link
epidermolysis bullosa simplex Dowling-Meara type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KRT14 keratin 14 ISS
IAGP
OMIM:131760
ClinVar Annotator: match by term: Epidermolysis bullosa simplex Dowling-Meara type
MouseDO
ClinVar
PMID:1717157 PMID:9804355 PMID:10583131 PMID:10730767 PMID:10733662 More... NCBI chr17:41,582,279...41,586,895
Ensembl chr17:41,582,279...41,586,895
JBrowse link
G KRT5 keratin 5 ISS
IAGP
OMIM:131760
ClinVar Annotator: match by term: Epidermolysis bullosa herpetiformis, Dowling-Meara
ClinVar Annotator: match by term: Epidermolysis bullosa simplex Dowling-Meara type
MouseDO
ClinVar
PMID:7520042 PMID:8807337 PMID:9036937 PMID:16098032 PMID:16601668 More... NCBI chr12:52,514,575...52,520,394
Ensembl chr12:52,514,575...52,520,530
JBrowse link
G LOC126861525 BRD4-independent group 4 enhancer GRCh37_chr12:52909857-52911056 IAGP ClinVar Annotator: match by term: Epidermolysis bullosa herpetiformis, Dowling-Meara ClinVar PMID:9036937 PMID:16098032 PMID:16601668 PMID:16882168 PMID:20030639 More... NCBI chr12:52,516,073...52,517,272 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 IAGP 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 chr 3:183,635,623...183,684,519
Ensembl chr 3:183,635,610...183,684,519
JBrowse link
G KRT14 keratin 14 IAGP 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 chr17:41,582,279...41,586,895
Ensembl chr17:41,582,279...41,586,895
JBrowse link
G KRT5 keratin 5 IAGP 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 chr12:52,514,575...52,520,394
Ensembl chr12:52,514,575...52,520,530
JBrowse link
G LOC126861525 BRD4-independent group 4 enhancer GRCh37_chr12:52909857-52911056 IAGP ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Koebner type ClinVar PMID:20199538 PMID:25741868 NCBI chr12:52,516,073...52,517,272 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 IAGP ClinVar Annotator: match by term: Localized epidermolysis bullosa simplex ClinVar PMID:25741868 PMID:28492532 NCBI chr17:75,721,459...75,757,818
Ensembl chr17:75,721,328...75,757,818
JBrowse link
G KRT14 keratin 14 IAGP ClinVar Annotator: match by term: Localized epidermolysis bullosa simplex ClinVar PMID:25741868 PMID:28492532 NCBI chr17:41,582,279...41,586,895
Ensembl chr17:41,582,279...41,586,895
JBrowse link
G KRT5 keratin 5 IAGP ClinVar Annotator: match by term: Localized epidermolysis bullosa simplex
ClinVar Annotator: match by term: Epidermolysis Bullosa Simplex, Weber-Cockayne Type
ClinVar PMID:7520042 PMID:7537780 PMID:7688477 PMID:8807337 PMID:9036937 More... NCBI chr12:52,514,575...52,520,394
Ensembl chr12:52,514,575...52,520,530
JBrowse link
G LOC126861525 BRD4-independent group 4 enhancer GRCh37_chr12:52909857-52911056 IAGP ClinVar Annotator: match by term: Localized epidermolysis bullosa simplex ClinVar PMID:9036937 PMID:16098032 PMID:16601668 PMID:16882168 PMID:20030639 More... NCBI chr12:52,516,073...52,517,272 JBrowse link
epidermolysis bullosa simplex Ogna type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC130001338 ATAC-STARR-seq lymphoblastoid active region 28078 IAGP ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX 5A, OGNA TYPE ClinVar PMID:25741868 PMID:26467025 NCBI chr 8:143,939,334...143,939,573 JBrowse link
G PLEC plectin IAGP
ISS
EXP
ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Ogna type
ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX 5A, OGNA TYPE | ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Ogna type
OMIM:131950
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
MouseDO
CTD
PMID:9536098 PMID:11851880 PMID:15206692 PMID:15810881 PMID:17576681 More... NCBI chr 8:143,915,153...143,976,745
Ensembl chr 8:143,915,153...143,976,734
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 IAGP
EXP
ClinVar Annotator: match by term: Speckled hyperpigmentation, palmo-plantar punctate keratoses and childhood blistering
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Epidermolysis bullosa simplex with mottled pigmentation
ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX 2F, WITH MOTTLED PIGMENTATION
OMIM
ClinVar
CTD
PMID:421361 PMID:1049409 PMID:2476664 PMID:6457621 PMID:7520042 More... NCBI chr12:52,514,575...52,520,394
Ensembl chr12:52,514,575...52,520,530
JBrowse link
G LOC126861525 BRD4-independent group 4 enhancer GRCh37_chr12:52909857-52911056 IAGP ClinVar Annotator: match by term: Speckled hyperpigmentation, palmo-plantar punctate keratoses and childhood blistering ClinVar PMID:9036937 PMID:16098032 PMID:16601668 PMID:16882168 PMID:20030639 More... NCBI chr12:52,516,073...52,517,272 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 IAGP 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 8:144,373,088...144,393,242
Ensembl chr 8:144,373,101...144,393,242
JBrowse link
G BOP1 BOP1 ribosomal biogenesis factor IAGP 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 8:144,262,045...144,291,438
Ensembl chr 8:144,262,045...144,291,438
JBrowse link
G CCDC166 coiled-coil domain containing 166 IAGP 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 8:143,706,694...143,708,109
Ensembl chr 8:143,706,694...143,708,109
JBrowse link
G CPSF1 cleavage and polyadenylation specific factor 1 IAGP 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 8:144,393,231...144,409,335
Ensembl chr 8:144,393,229...144,409,335
JBrowse link
G CYC1 cytochrome c1 IAGP 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 8:144,095,076...144,097,525
Ensembl chr 8:144,095,039...144,097,525
JBrowse link
G CYP11B1 cytochrome P450 family 11 subfamily B member 1 IAGP ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:28492532 NCBI chr 8:142,872,357...142,879,825
Ensembl chr 8:142,872,356...142,879,846
JBrowse link
G CYP11B2 cytochrome P450 family 11 subfamily B member 2 IAGP ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:28492532 NCBI chr 8:142,910,559...142,917,843
Ensembl chr 8:142,910,559...142,917,843
JBrowse link
G DGAT1 diacylglycerol O-acyltransferase 1 IAGP 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 8:144,314,584...144,326,852
Ensembl chr 8:144,314,584...144,326,910
JBrowse link
G EEF1D eukaryotic translation elongation factor 1 delta IAGP 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 8:143,579,728...143,597,415
Ensembl chr 8:143,579,697...143,599,541
JBrowse link
G EPPK1 epiplakin 1 IAGP 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 8:143,857,324...143,879,194
Ensembl chr 8:143,857,324...143,878,467
JBrowse link
G EXOSC4 exosome component 4 IAGP 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 8:144,064,056...144,080,648
Ensembl chr 8:144,078,648...144,080,648
JBrowse link
G FAM83H family with sequence similarity 83 member H IAGP 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 8:143,723,933...143,733,779
Ensembl chr 8:143,723,933...143,738,234
JBrowse link
G FBXL6 F-box and leucine rich repeat protein 6 IAGP 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 8:144,355,431...144,358,472
Ensembl chr 8:144,355,431...144,359,376
JBrowse link
G FOXH1 forkhead box H1 IAGP 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 8:144,473,412...144,475,849
Ensembl chr 8:144,473,412...144,475,849
JBrowse link
G GFUS GDP-L-fucose synthase IAGP 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 8:143,612,618...143,618,048
Ensembl chr 8:143,612,618...143,618,048
JBrowse link
G GLI4 GLI family zinc finger 4 IAGP 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 8:143,267,445...143,276,931
Ensembl chr 8:143,267,433...143,276,931
JBrowse link
G GML glycosylphosphatidylinositol anchored molecule like IAGP ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:28492532 NCBI chr 8:142,834,801...142,846,851
Ensembl chr 8:142,834,247...142,916,506
JBrowse link
G GPAA1 glycosylphosphatidylinositol anchor attachment 1 IAGP 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 8:144,082,634...144,086,216
Ensembl chr 8:144,082,337...144,093,149
JBrowse link
G GPIHBP1 glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1 IAGP 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 8:143,213,218...143,217,170
Ensembl chr 8:143,213,218...143,217,170
JBrowse link
G GPT glutamic--pyruvic transaminase IAGP ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:28492532 NCBI chr 8:144,503,068...144,507,172
Ensembl chr 8:144,502,973...144,507,174
JBrowse link
G GRINA glutamate ionotropic receptor NMDA type subunit associated protein 1 IAGP 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 8:143,990,056...143,993,415
Ensembl chr 8:143,990,056...143,993,415
JBrowse link
G GSDMD gasdermin D IAGP 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 8:143,553,387...143,563,062
Ensembl chr 8:143,553,207...143,563,062
JBrowse link
G HGH1 HGH1 homolog IAGP 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 8:144,137,774...144,140,851
Ensembl chr 8:144,137,774...144,140,851
JBrowse link
G HSF1 heat shock transcription factor 1 IAGP 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 8:144,291,604...144,314,720
Ensembl chr 8:144,291,591...144,314,720
JBrowse link
G KIFC2 kinesin family member C2 IAGP ClinVar Annotator: match by term: Epidermolysa bullosa simplex and limb girdle muscular dystrophy
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy
ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 8:144,466,049...144,474,202
Ensembl chr 8:144,466,043...144,474,202
JBrowse link
G LOC121331314 Sharpr-MPRA regulatory region 8265 IAGP ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:23289980 PMID:25640679 PMID:28492532 NCBI chr 8:143,940,221...143,940,515 JBrowse link
G LOC130001334 ATAC-STARR-seq lymphoblastoid silent region 19628 IAGP ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:9536098 PMID:17576681 PMID:20301336 PMID:20447487 PMID:21109228 More... NCBI chr 8:143,933,758...143,934,037 JBrowse link
G LOC130001337 ATAC-STARR-seq lymphoblastoid silent region 19630 IAGP ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:23289980 PMID:25640679 PMID:28492532 NCBI chr 8:143,939,214...143,939,313 JBrowse link
G LOC130001338 ATAC-STARR-seq lymphoblastoid active region 28078 IAGP ClinVar Annotator: match by term: Epidermolysis bullosa simplex with muscular dystrophy
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy
ClinVar PMID:23289980 PMID:25640679 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 8:143,939,334...143,939,573 JBrowse link
G LOC130001339 ATAC-STARR-seq lymphoblastoid silent region 19631 IAGP ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:23289980 PMID:25640679 PMID:28492532 NCBI chr 8:143,939,594...143,939,823 JBrowse link
G LOC130001340 ATAC-STARR-seq lymphoblastoid active region 28079 IAGP ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:23289980 PMID:25640679 PMID:28492532 NCBI chr 8:143,939,984...143,940,043 JBrowse link
G LOC130001341 ATAC-STARR-seq lymphoblastoid silent region 19632 IAGP ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:23289980 PMID:25640679 PMID:28492532 NCBI chr 8:143,942,071...143,942,160 JBrowse link
G LOC130001342 ATAC-STARR-seq lymphoblastoid silent region 19633 IAGP ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:23289980 PMID:25640679 PMID:28492532 NCBI chr 8:143,942,381...143,942,840 JBrowse link
G LOC130001343 ATAC-STARR-seq lymphoblastoid active region 28080 IAGP ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:23289980 PMID:25640679 PMID:28492532 NCBI chr 8:143,943,061...143,943,310 JBrowse link
G LOC130001344 ATAC-STARR-seq lymphoblastoid silent region 19634 IAGP ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:23289980 PMID:25640679 PMID:28492532 NCBI chr 8:143,943,911...143,944,180 JBrowse link
G LY6D lymphocyte antigen 6 family member D IAGP ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:28492532 NCBI chr 8:142,784,882...142,786,539
Ensembl chr 8:142,784,882...142,786,539
JBrowse link
G LY6E lymphocyte antigen 6 family member E IAGP ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:28492532 NCBI chr 8:143,018,529...143,022,409
Ensembl chr 8:143,017,982...143,023,832
JBrowse link
G LY6H lymphocyte antigen 6 family member H IAGP ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:28492532 NCBI chr 8:143,157,916...143,160,654
Ensembl chr 8:143,157,914...143,160,711
JBrowse link
G LY6S-AS1 LY6S antisense RNA 1 IAGP ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:28492532 NCBI chr 8:143,039,209...143,054,303
Ensembl chr 8:143,039,209...143,060,684
JBrowse link
G LYNX1 Ly6/neurotoxin 1 IAGP ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:28492532 NCBI chr 8:142,771,197...142,777,872
Ensembl chr 8:142,771,197...142,777,810
JBrowse link
G LYPD2 LY6/PLAUR domain containing 2 IAGP ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:28492532 NCBI chr 8:142,750,150...142,752,532
Ensembl chr 8:142,750,150...142,752,532
JBrowse link
G MAF1 MAF1 homolog, negative regulator of RNA polymerase III IAGP 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 8:144,104,461...144,107,611
Ensembl chr 8:144,104,420...144,107,611
JBrowse link
G MAFA MAF bZIP transcription factor A IAGP 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 8:143,428,064...143,430,732
Ensembl chr 8:143,419,182...143,430,732
JBrowse link
G MAPK15 mitogen-activated protein kinase 15 IAGP 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 8:143,716,349...143,722,458
Ensembl chr 8:143,716,340...143,722,458
JBrowse link
G MFSD3 major facilitator superfamily domain containing 3 IAGP ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:28492532 NCBI chr 8:144,509,070...144,511,213
Ensembl chr 8:144,509,070...144,511,213
JBrowse link
G MIR1234 microRNA 1234 IAGP 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 8:144,400,086...144,400,165
Ensembl chr 8:144,400,086...144,400,165
JBrowse link
G MIR661 microRNA 661 IAGP 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 8:143,945,191...143,945,279
Ensembl chr 8:143,945,191...143,945,279
JBrowse link
G MROH1 maestro heat like repeat family member 1 IAGP ClinVar Annotator: match by term: Epidermolysa bullosa simplex and limb girdle muscular dystrophy
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy
ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 8:144,148,016...144,261,926
Ensembl chr 8:144,148,016...144,261,927
JBrowse link
G MROH6 maestro heat like repeat family member 6 IAGP 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 8:143,566,192...143,572,772
Ensembl chr 8:143,566,192...143,572,772
JBrowse link
G NAPRT nicotinate phosphoribosyltransferase IAGP 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 8:143,572,874...143,578,330
Ensembl chr 8:143,574,785...143,578,649
JBrowse link
G NRBP2 nuclear receptor binding protein 2 IAGP 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 8:143,829,776...143,840,973
Ensembl chr 8:143,833,583...143,840,973
JBrowse link
G OPLAH 5-oxoprolinase, ATP-hydrolysing IAGP 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 8:144,050,322...144,063,961
Ensembl chr 8:144,051,266...144,063,965
JBrowse link
G PARP10 poly(ADP-ribose) polymerase family member 10 IAGP 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 8:143,977,158...144,012,764
Ensembl chr 8:143,977,153...144,012,772
JBrowse link
G PLEC plectin IAGP
ISS
EXP
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with 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
ClinVar Annotator: match by term: Epidermolysa bullosa simplex and limb girdle muscular dystrophy | ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy | ClinVar Annotator: match by term: Epidermolysis bullosa simplex with muscular dystrophy
OMIM:226670
CTD Direct Evidence: marker/mechanism
ClinVar
MouseDO
CTD
OMIM
PMID:8696340 PMID:8830774 PMID:8894687 PMID:9536098 PMID:9886273 More... NCBI chr 8:143,915,153...143,976,745
Ensembl chr 8:143,915,153...143,976,734
JBrowse link
G PPP1R16A protein phosphatase 1 regulatory subunit 16A IAGP ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:28492532 NCBI chr 8:144,477,982...144,502,121
Ensembl chr 8:144,477,969...144,502,121
JBrowse link
G PUF60 poly(U) binding splicing factor 60 IAGP 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 8:143,816,344...143,829,315
Ensembl chr 8:143,816,344...143,830,709
JBrowse link
G PYCR3 pyrroline-5-carboxylate reductase 3 IAGP 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 8:143,603,210...143,609,575
Ensembl chr 8:143,603,210...143,609,773
JBrowse link
G RECQL4 RecQ like helicase 4 IAGP ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:28492532 NCBI chr 8:144,511,288...144,517,833
Ensembl chr 8:144,511,288...144,517,845
JBrowse link
G RHPN1 rhophilin Rho GTPase binding protein 1 IAGP 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 8:143,364,255...143,384,221
Ensembl chr 8:143,368,876...143,384,221
JBrowse link
G SCRIB scribble planar cell polarity protein IAGP 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 8:143,790,925...143,815,773
Ensembl chr 8:143,790,920...143,815,773
JBrowse link
G SCRT1 scratch family transcriptional repressor 1 IAGP 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 8:144,330,565...144,336,482
Ensembl chr 8:144,330,565...144,336,482
JBrowse link
G SCX scleraxis bHLH transcription factor IAGP 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 8:144,266,453...144,268,481
Ensembl chr 8:144,266,453...144,268,481
JBrowse link
G SHARPIN SHANK associated RH domain interactor IAGP 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 8:144,098,637...144,103,773
Ensembl chr 8:144,098,633...144,108,124
JBrowse link
G SLC39A4 solute carrier family 39 member 4 IAGP 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 8:144,412,414...144,416,844
Ensembl chr 8:144,409,742...144,416,844
JBrowse link
G SLC52A2 solute carrier family 52 member 2 IAGP 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 8:144,358,552...144,361,272
Ensembl chr 8:144,333,957...144,361,286
JBrowse link
G SLURP1 secreted LY6/PLAUR domain containing 1 IAGP ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:28492532 NCBI chr 8:142,740,949...142,742,406
Ensembl chr 8:142,740,949...142,742,406
JBrowse link
G SPATC1 spermatogenesis and centriole associated 1 IAGP 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 8:144,010,977...144,047,114
Ensembl chr 8:144,012,280...144,047,114
JBrowse link
G TIGD5 tigger transposable element derived 5 IAGP 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 8:143,597,831...143,603,224
Ensembl chr 8:143,597,831...143,603,224
JBrowse link
G TMEM249 transmembrane protein 249 IAGP 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 8:144,353,228...144,354,931
Ensembl chr 8:144,352,219...144,354,954
JBrowse link
G TONSL tonsoku like, DNA repair protein IAGP 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 8:144,428,775...144,444,440
Ensembl chr 8:144,428,775...144,444,440
JBrowse link
G TOP1MT DNA topoisomerase I mitochondrial IAGP 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 8:143,309,324...143,359,977
Ensembl chr 8:143,304,384...143,359,979
JBrowse link
G VPS28 VPS28 subunit of ESCRT-I IAGP 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 8:144,423,617...144,428,548
Ensembl chr 8:144,423,601...144,428,563
JBrowse link
G ZC3H3 zinc finger CCCH-type containing 3 IAGP 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 8:143,437,659...143,541,447
Ensembl chr 8:143,437,659...143,541,447
JBrowse link
G ZFP41 ZFP41 zinc finger protein IAGP 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 8:143,246,939...143,262,705
Ensembl chr 8:143,246,821...143,262,705
JBrowse link
G ZFTRAF1 zinc finger TRAF-type containing 1 IAGP 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 8:144,449,582...144,462,871
Ensembl chr 8:144,449,582...144,462,871
JBrowse link
G ZNF623 zinc finger protein 623 IAGP 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 8:143,636,019...143,653,730
Ensembl chr 8:143,636,019...143,656,418
JBrowse link
G ZNF696 zinc finger protein 696 IAGP 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 8:143,291,417...143,299,952
Ensembl chr 8:143,289,676...143,299,952
JBrowse link
G ZNF707 zinc finger protein 707 IAGP 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 8:143,684,479...143,695,385
Ensembl chr 8:143,684,452...143,713,898
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 IAGP
EXP
ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA DYSTROPHICA, BART TYPE
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:2425097 PMID:5910871 PMID:7695699 PMID:7833933 PMID:8088783 More... NCBI chr 3:48,564,073...48,595,329
Ensembl chr 3:48,564,073...48,595,329
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 IAGP
EXP
ClinVar Annotator: match by term: Lethal acantholytic epidermolysis bullosa
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:2450378 PMID:3198322 PMID:9536098 PMID:10395892 PMID:11063735 More... NCBI chr 6:7,541,671...7,586,714
Ensembl chr 6:7,541,326...7,586,717
JBrowse link
G DSP-AS1 DSP antisense RNA 1 IAGP ClinVar Annotator: match by term: Lethal acantholytic epidermolysis bullosa ClinVar PMID:10395892 PMID:16199547 PMID:16917092 PMID:18632414 PMID:20129281 More... NCBI chr 6:7,540,451...7,543,083
Ensembl chr 6:7,539,659...7,543,119
JBrowse link
erythema multiforme term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CD40 CD40 molecule IEP RGD PMID:18050371 RGD:8547765 NCBI chr20:46,118,314...46,129,858
Ensembl chr20:46,118,271...46,129,863
JBrowse link
G CD40LG CD40 ligand IEP RGD PMID:18050371 RGD:8547765 NCBI chr  X:136,648,158...136,660,390
Ensembl chr  X:136,648,158...136,660,390
JBrowse link
G CD8A CD8 subunit alpha susceptibility IEP associated with adult T-cell leukemia;mRNA:increased expression:blood (human) RGD PMID:32433748 RGD:124715447 NCBI chr 2:86,784,605...86,808,396
Ensembl chr 2:86,784,610...86,808,396
JBrowse link
G HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 IAGP DNA:polymorphisms (human) RGD PMID:9627123 RGD:5147868 NCBI chr 6:32,659,467...32,666,657
Ensembl chr 6:32,659,467...32,668,383
JBrowse link
G MASP2 MBL associated serine protease 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:12904520 NCBI chr 1:11,026,523...11,047,239
Ensembl chr 1:11,022,009...11,047,239
JBrowse link
G VEGFA vascular endothelial growth factor A IEP mRNA:increased expression: : RGD PMID:7738351 RGD:7421578 NCBI chr 6:43,770,211...43,786,487
Ensembl chr 6:43,770,184...43,786,487
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 IAGP ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Koebner type ClinVar PMID:25741868 PMID:27798626 PMID:27889062 PMID:28492532 PMID:29779254 More... NCBI chr 3:183,635,623...183,684,519
Ensembl chr 3:183,635,610...183,684,519
JBrowse link
G KRT14 keratin 14 IAGP ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Koebner type OMIM
ClinVar
PMID:1703046 PMID:1717157 PMID:1720261 PMID:2365356 PMID:7682883 More... NCBI chr17:41,582,279...41,586,895
Ensembl chr17:41,582,279...41,586,895
JBrowse link
G KRT5 keratin 5 IAGP ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Koebner type ClinVar PMID:7520042 PMID:8807337 PMID:20199538 PMID:25741868 NCBI chr12:52,514,575...52,520,394
Ensembl chr12:52,514,575...52,520,530
JBrowse link
G LOC126861525 BRD4-independent group 4 enhancer GRCh37_chr12:52909857-52911056 IAGP ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Koebner type ClinVar PMID:20199538 PMID:25741868 NCBI chr12:52,516,073...52,517,272 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 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr 6:56,457,996...56,954,830
Ensembl chr 6:56,457,987...56,954,830
JBrowse link
G KRT14 keratin 14 IAGP
EXP
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:7525407 PMID:7525408 PMID:7526933 PMID:8875963 PMID:10971341 More... NCBI chr17:41,582,279...41,586,895
Ensembl chr17:41,582,279...41,586,895
JBrowse link
G KRT5 keratin 5 IAGP ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX 1D, GENERALIZED, INTERMEDIATE OR SEVERE, AUTOSOMAL RECESSIVE ClinVar PMID:7520042 PMID:8807337 PMID:25741868 NCBI chr12:52,514,575...52,520,394
Ensembl chr12:52,514,575...52,520,530
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 IAGP 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 chr12:52,514,575...52,520,394
Ensembl chr12:52,514,575...52,520,530
JBrowse link
G LOC126861525 BRD4-independent group 4 enhancer GRCh37_chr12:52909857-52911056 IAGP ClinVar Annotator: match by term: Epidermolysis bullosa simplex 2B, generalized intermediate ClinVar PMID:1718160 PMID:7686424 PMID:10354017 PMID:11407989 PMID:16439963 More... NCBI chr12:52,516,073...52,517,272 JBrowse link
G LOC126861526 BRD4-independent group 4 enhancer GRCh37_chr12:52912066-52913265 IAGP ClinVar Annotator: match by term: Epidermolysis bullosa simplex 2B, generalized intermediate ClinVar PMID:11407988 PMID:16882168 PMID:25741868 NCBI chr12:52,518,282...52,519,481 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 IAGP 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 chr12:52,514,575...52,520,394
Ensembl chr12:52,514,575...52,520,530
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 IAGP 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
ClinVar
OMIM
PMID:25741868 PMID:27798626 PMID:27889062 PMID:28492532 PMID:29779254 More... NCBI chr 3:183,635,623...183,684,519
Ensembl chr 3:183,635,610...183,684,519
JBrowse link
Generalized Severe Epidermolysis Bullosa Simplex 1A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KRT14 keratin 14 IAGP 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 chr17:41,582,279...41,586,895
Ensembl chr17:41,582,279...41,586,895
JBrowse link
G KRT5 keratin 5 IAGP ClinVar Annotator: match by term: Epidermolysis bullosa simplex 1A, generalized severe ClinVar PMID:7520042 PMID:8807337 PMID:9036937 PMID:10354017 PMID:10730767 More... NCBI chr12:52,514,575...52,520,394
Ensembl chr12:52,514,575...52,520,530
JBrowse link
G LOC126861525 BRD4-independent group 4 enhancer GRCh37_chr12:52909857-52911056 IAGP ClinVar Annotator: match by term: Epidermolysis bullosa simplex 1A, generalized severe ClinVar PMID:9036937 PMID:10354017 PMID:16098032 PMID:16439963 PMID:16601668 More... NCBI chr12:52,516,073...52,517,272 JBrowse link
G LOC126861526 BRD4-independent group 4 enhancer GRCh37_chr12:52912066-52913265 IAGP ClinVar Annotator: match by term: Epidermolysis bullosa simplex 1A, generalized severe ClinVar NCBI chr12:52,518,282...52,519,481 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 IAGP 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 chr12:52,514,575...52,520,394
Ensembl chr12:52,514,575...52,520,530
JBrowse link
G LOC126861525 BRD4-independent group 4 enhancer GRCh37_chr12:52909857-52911056 IAGP ClinVar Annotator: match by term: Epidermolysis bullosa simplex 2A, generalized severe ClinVar PMID:1372711 PMID:9036937 PMID:10383750 PMID:16098032 PMID:16601668 More... NCBI chr12:52,516,073...52,517,272 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 IAGP
EXP
ClinVar Annotator: match by term: Familial benign pemphigus
ClinVar Annotator: match by term: ATP2C1-related condition | ClinVar Annotator: match by term: Familial benign pemphigus
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:3978039 PMID:10615129 PMID:10767338 PMID:11450592 PMID:11841554 More... NCBI chr 3:130,850,595...131,016,712
Ensembl chr 3:130,850,595...131,016,712
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 IAGP
EXP
ClinVar Annotator: match by term: Hypotrichosis and recurrent skin vesicles
ClinVar Annotator: match by term: DSC3-related condition | ClinVar Annotator: match by term: Hypotrichosis and recurrent skin vesicles
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:16199547 PMID:18682494 PMID:19765682 PMID:25741868 PMID:28492532 More... NCBI chr18:30,989,365...31,042,742
Ensembl chr18:30,989,365...31,042,815
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 IAGP
ISS
ClinVar Annotator: match by term: Junctional epidermolysis bullosa MouseDO
ClinVar
RGD
PMID:7550320 PMID:9199555 PMID:9740252 PMID:10398261 PMID:10577906 More... RGD:1600884 NCBI chr10:104,031,286...104,085,880
Ensembl chr10:104,031,286...104,085,880
JBrowse link
G GALK1 galactokinase 1 IAGP ClinVar Annotator: match by term: Junctional epidermolysis bullosa ClinVar PMID:9792864 PMID:11886501 PMID:25741868 NCBI chr17:75,751,469...75,765,192
Ensembl chr17:75,751,594...75,765,236
JBrowse link
G ITGA6 integrin subunit alpha 6 IAGP epidermolysis bullosa with pyloric atresia, OMIM:226730
ClinVar Annotator: match by term: Junctional epidermolysis bullosa
ClinVar
RGD
PMID:21357940 PMID:25741868 PMID:9185503 RGD:1600016 NCBI chr 2:172,427,336...172,506,459
Ensembl chr 2:172,234,216...172,506,459
JBrowse link
G ITGB4 integrin subunit beta 4 EXP
IAGP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Junctional epidermolysis bullosa
CTD
ClinVar
PMID:7545057 PMID:9792864 PMID:11886501 PMID:25741868 NCBI chr17:75,721,459...75,757,818
Ensembl chr17:75,721,328...75,757,818
JBrowse link
G LAMA3 laminin subunit alpha 3 IAGP
ISS
EXP
ClinVar Annotator: match by term: Junctional epidermolysis bullosa
CTD Direct Evidence: marker/mechanism
ClinVar
MouseDO
CTD
RGD
PMID:9536098 PMID:10366601 PMID:11810295 PMID:11907499 PMID:12915477 More... RGD:1600080 NCBI chr18:23,689,453...23,955,066
Ensembl chr18:23,689,453...23,956,222
JBrowse link
G LAMB3 laminin subunit beta 3 susceptibility IAGP
EXP
DNA:nonsense mutation
ClinVar Annotator: match by term: Junctional epidermolysis bullosa
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:7550237 PMID:7698759 PMID:7706760 PMID:8824879 PMID:8983017 More... RGD:1600209 NCBI chr 1:209,614,870...209,652,425
Ensembl chr 1:209,614,870...209,652,425
JBrowse link
G LAMC2 laminin subunit gamma 2 susceptibility IAGP
EXP
DNA:splice-site mutation, deletion-insertion
ClinVar Annotator: match by term: Junctional epidermolysis bullosa
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:9856849 PMID:11231327 PMID:11810295 PMID:11907499 PMID:15370542 More... RGD:1600210 NCBI chr 1:183,186,264...183,258,968
Ensembl chr 1:183,186,238...183,245,127
JBrowse link
G LOC126805948 MED14-independent group 3 enhancer GRCh37_chr1:183154769-183155968 IAGP ClinVar Annotator: match by term: Junctional epidermolysis bullosa ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:183,185,549...183,186,833 JBrowse link
G LOC126805999 MED14-independent group 3 enhancer GRCh37_chr1:209825272-209826471 IAGP ClinVar Annotator: match by term: Junctional epidermolysis bullosa ClinVar PMID:25741868 NCBI chr 1:209,651,927...209,653,126 JBrowse link
G LOC126862707 MED14-independent group 3 enhancer GRCh37_chr18:21452354-21453553 IAGP ClinVar Annotator: match by term: Junctional epidermolysis bullosa ClinVar PMID:10366601 PMID:11810295 PMID:12915477 PMID:16473856 PMID:17362460 More... NCBI chr18:23,872,390...23,873,589 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 IAGP ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 1A, INTERMEDIATE ClinVar PMID:9583744 PMID:10636730 PMID:11406649 PMID:14614394 PMID:16199547 More... NCBI chr10:104,031,286...104,085,880
Ensembl chr10:104,031,286...104,085,880
JBrowse link
G LAMA3 laminin subunit alpha 3 IAGP ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 1A, INTERMEDIATE ClinVar PMID:10366601 PMID:11810295 PMID:12915477 PMID:16473856 PMID:17362460 More... NCBI chr18:23,689,453...23,955,066
Ensembl chr18:23,689,453...23,956,222
JBrowse link
G LAMB3 laminin subunit beta 3 IAGP ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 1A, INTERMEDIATE OMIM
ClinVar
PMID:7550237 PMID:7698759 PMID:7706760 PMID:8824879 PMID:8983017 More... NCBI chr 1:209,614,870...209,652,425
Ensembl chr 1:209,614,870...209,652,425
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 IAGP ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 1B, SEVERE ClinVar PMID:9536098 PMID:10366601 PMID:11810295 PMID:12915477 PMID:16473856 More... NCBI chr18:23,689,453...23,955,066
Ensembl chr18:23,689,453...23,956,222
JBrowse link
G LAMB3 laminin subunit beta 3 IAGP ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 1B, SEVERE OMIM
ClinVar
PMID:7550237 PMID:7698759 PMID:7706760 PMID:8824879 PMID:8983017 More... NCBI chr 1:209,614,870...209,652,425
Ensembl chr 1:209,614,870...209,652,425
JBrowse link
G LAMC2 laminin subunit gamma 2 IAGP ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 1B, SEVERE ClinVar PMID:11907499 PMID:16199547 PMID:16473856 PMID:25741868 PMID:28492532 NCBI chr 1:183,186,264...183,258,968
Ensembl chr 1:183,186,238...183,245,127
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 IAGP ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 2A, NON-HERLITZ TYPE | ClinVar Annotator: match by term: Epidermolysis bullosa, junctional 2A, intermediate OMIM
ClinVar
PMID:10366601 PMID:11810295 PMID:12915477 PMID:16199547 PMID:16473856 More... NCBI chr18:23,689,453...23,955,066
Ensembl chr18:23,689,453...23,956,222
JBrowse link
G LOC126862707 MED14-independent group 3 enhancer GRCh37_chr18:21452354-21453553 IAGP ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 2A, NON-HERLITZ TYPE ClinVar PMID:10366601 PMID:11810295 PMID:12915477 PMID:16473856 PMID:17362460 More... NCBI chr18:23,872,390...23,873,589 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 IAGP ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 2B, HERLITZ TYPE | ClinVar Annotator: match by term: Epidermolysis bullosa, junctional 2B, severe OMIM
ClinVar
PMID:7633458 PMID:8530087 PMID:8586427 PMID:8618022 PMID:8824879 More... NCBI chr18:23,689,453...23,955,066
Ensembl chr18:23,689,453...23,956,222
JBrowse link
G LOC126862707 MED14-independent group 3 enhancer GRCh37_chr18:21452354-21453553 IAGP ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 2B, HERLITZ TYPE ClinVar PMID:10366601 PMID:11810295 PMID:12915477 PMID:16473856 PMID:17362460 More... NCBI chr18:23,872,390...23,873,589 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 IAGP
EXP
ClinVar Annotator: match by term: Laryngo-onycho-cutaneous syndrome
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:7633458 PMID:8530087 PMID:8618022 PMID:8824879 PMID:8983017 More... NCBI chr18:23,689,453...23,955,066
Ensembl chr18:23,689,453...23,956,222
JBrowse link
G LOC126862707 MED14-independent group 3 enhancer GRCh37_chr18:21452354-21453553 IAGP ClinVar Annotator: match by term: Laryngo-onycho-cutaneous syndrome ClinVar PMID:10366601 PMID:11810295 PMID:12915477 PMID:16473856 PMID:17362460 More... NCBI chr18:23,872,390...23,873,589 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 IAGP ClinVar Annotator: match by term: Epidermolysis bullosa, junctional 3A, intermediate
ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 3A, NON-HERLITZ TYPE | ClinVar Annotator: match by term: Epidermolysis bullosa, junctional 3A, intermediate
ClinVar Annotator: match by term: LAMC2-related condition
ClinVar Annotator: match by term: Epidermolysis bullosa, junctional 3A, intermediate | ClinVar Annotator: match by term: LAMC2-related condition
OMIM
ClinVar
PMID:7849725 PMID:9536098 PMID:9856849 PMID:11564184 PMID:11810295 More... NCBI chr 1:183,186,264...183,258,968
Ensembl chr 1:183,186,238...183,245,127
JBrowse link
G LOC126805948 MED14-independent group 3 enhancer GRCh37_chr1:183154769-183155968 IAGP ClinVar Annotator: match by term: Epidermolysis bullosa, junctional 3A, intermediate ClinVar PMID:25741868 NCBI chr 1:183,185,549...183,186,833 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 IAGP ClinVar Annotator: match by term: Epidermolysis bullosa, junctional 3B, severe
ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 3B, HERLITZ TYPE | ClinVar Annotator: match by term: Epidermolysis bullosa, junctional 3B, severe
OMIM
ClinVar
PMID:7849725 PMID:8012114 PMID:8012393 PMID:8012394 PMID:8824879 More... NCBI chr 1:183,186,264...183,258,968
Ensembl chr 1:183,186,238...183,245,127
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 IAGP ClinVar Annotator: match by term: Epidermolysis bullosa, junctional 4, intermediate
ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN | ClinVar Annotator: match by term: Epidermolysis bullosa, junctional 4, intermediate
ClinVar Annotator: match by term: COL17A1-related condition
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 chr10:104,031,286...104,085,880
Ensembl chr10:104,031,286...104,085,880
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 IAGP ClinVar Annotator: match by term: Epidermolysis bullosa, junctional 5A, intermediate
ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5A, NON-HERLITZ TYPE
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 chr17:75,751,469...75,765,192
Ensembl chr17:75,751,594...75,765,236
JBrowse link
G ITGB4 integrin subunit beta 4 IAGP 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 chr17:75,721,459...75,757,818
Ensembl chr17:75,721,328...75,757,818
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 IAGP ClinVar Annotator: match by term: Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome | ClinVar Annotator: match by term: Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital
ClinVar Annotator: match by term: ITGA3-related condition
ClinVar Annotator: match by term: Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome | ClinVar Annotator: match by term: ITGA3-related condition | ClinVar Annotator: match by term: Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital
OMIM
ClinVar
PMID:16199547 PMID:22512483 PMID:24088041 PMID:24220332 PMID:25741868 More... NCBI chr17:50,056,110...50,090,481
Ensembl chr17:50,055,968...50,090,481
JBrowse link
G LOC126862584 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr17:48141472-48142671 IAGP ClinVar Annotator: match by term: Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome ClinVar PMID:22512483 PMID:25741868 PMID:28492532 NCBI chr17:50,064,108...50,065,307 JBrowse link
junctional epidermolysis bullosa Herlitz type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ITGA6 integrin subunit alpha 6 ISS OMIM:226700 MouseDO NCBI chr 2:172,427,336...172,506,459
Ensembl chr 2:172,234,216...172,506,459
JBrowse link
G LAMA3 laminin subunit alpha 3 IAGP ClinVar Annotator: match by term: Junctional epidermolysis bullosa gravis of Herlitz
ClinVar Annotator: match by term: Herlitz-Pearson type epidermolysis bullosa | ClinVar Annotator: match by term: Junctional epidermolysis bullosa gravis of Herlitz
ClinVar Annotator: match by term: Herlitz-type junctional epidermolysis bullosa | ClinVar Annotator: match by term: Junctional epidermolysis bullosa gravis of Herlitz
ClinVar PMID:7633458 PMID:8530087 PMID:8618022 PMID:8824879 PMID:8983017 More... NCBI chr18:23,689,453...23,955,066
Ensembl chr18:23,689,453...23,956,222
JBrowse link
G LAMB3 laminin subunit beta 3 IAGP
ISS
ClinVar Annotator: match by term: Junctional epidermolysis bullosa gravis of Herlitz
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
OMIM:226700
ClinVar
MouseDO
PMID:7550237 PMID:7698759 PMID:7706760 PMID:8362910 PMID:8541876 More... NCBI chr 1:209,614,870...209,652,425
Ensembl chr 1:209,614,870...209,652,425
JBrowse link
G LAMC2 laminin subunit gamma 2 IAGP
ISS
ClinVar Annotator: match by term: Junctional epidermolysis bullosa gravis of Herlitz
ClinVar Annotator: match by term: Herlitz-Pearson type epidermolysis bullosa | ClinVar Annotator: match by term: Junctional epidermolysis bullosa gravis of Herlitz
ClinVar Annotator: match by term: Herlitz-type junctional epidermolysis bullosa | ClinVar Annotator: match by term: Junctional epidermolysis bullosa gravis of Herlitz
OMIM:226700
ClinVar
MouseDO
PMID:7849725 PMID:8012114 PMID:8012393 PMID:8012394 PMID:8824879 More... NCBI chr 1:183,186,264...183,258,968
Ensembl chr 1:183,186,238...183,245,127
JBrowse link
G LOC126805948 MED14-independent group 3 enhancer GRCh37_chr1:183154769-183155968 IAGP ClinVar Annotator: match by term: Junctional epidermolysis bullosa gravis of Herlitz ClinVar PMID:25741868 NCBI chr 1:183,185,549...183,186,833 JBrowse link
G LOC126805999 MED14-independent group 3 enhancer GRCh37_chr1:209825272-209826471 IAGP ClinVar Annotator: match by term: Junctional epidermolysis bullosa gravis of Herlitz ClinVar PMID:25741868 NCBI chr 1:209,651,927...209,653,126 JBrowse link
G LOC126862707 MED14-independent group 3 enhancer GRCh37_chr18:21452354-21453553 IAGP ClinVar Annotator: match by term: Junctional epidermolysis bullosa gravis of Herlitz ClinVar PMID:10366601 PMID:11810295 PMID:12915477 PMID:16473856 PMID:17362460 More... NCBI chr18:23,872,390...23,873,589 JBrowse link
G MIR4260 microRNA 4260 IAGP ClinVar Annotator: match by term: Junctional epidermolysis bullosa gravis of Herlitz ClinVar NCBI chr 1:209,623,444...209,623,510
Ensembl chr 1:209,623,444...209,623,510
JBrowse link
G SLC2A1 solute carrier family 2 member 1 IAGP ClinVar Annotator: match by term: Herlitz-type junctional epidermolysis bullosa ClinVar PMID:20129935 PMID:25564316 PMID:25741868 PMID:25982116 PMID:26537434 More... NCBI chr 1:42,925,353...42,958,868
Ensembl chr 1:42,925,353...42,958,893
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 EXP
IAGP
ISS
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Junctional epidermolysis bullosa, non-Herlitz type
OMIM:226650
CTD
ClinVar
MouseDO
PMID:9077475 PMID:9204958 PMID:9536098 PMID:9583744 PMID:10636730 More... NCBI chr10:104,031,286...104,085,880
Ensembl chr10:104,031,286...104,085,880
JBrowse link
G GALK1 galactokinase 1 IAGP ClinVar Annotator: match by term: Junctional epidermolysis bullosa, non-Herlitz type ClinVar PMID:25741868 PMID:28492532 NCBI chr17:75,751,469...75,765,192
Ensembl chr17:75,751,594...75,765,236
JBrowse link
G ITGB4 integrin subunit beta 4 ISS
IAGP
OMIM:226650
ClinVar Annotator: match by term: Junctional epidermolysis bullosa, non-Herlitz type
MouseDO
ClinVar
PMID:25741868 PMID:28492532 NCBI chr17:75,721,459...75,757,818
Ensembl chr17:75,721,328...75,757,818
JBrowse link
G LAMA3 laminin subunit alpha 3 IAGP
ISS
ClinVar Annotator: match by term: Junctional epidermolysis bullosa, non-Herlitz type
ClinVar Annotator: match by term: Epidermolysis bullosa junctionalis, disentis type | ClinVar Annotator: match by term: Junctional epidermolysis bullosa, non-Herlitz type
OMIM:226650
ClinVar
MouseDO
PMID:10366601 PMID:11810295 PMID:12915477 PMID:16473856 PMID:17362460 More... NCBI chr18:23,689,453...23,955,066
Ensembl chr18:23,689,453...23,956,222
JBrowse link
G LAMB3 laminin subunit beta 3 IAGP
ISS
EXP
ClinVar Annotator: match by term: Junctional epidermolysis bullosa, non-Herlitz type
ClinVar Annotator: match by term: Epidermolysis bullosa junctionalis, disentis type
OMIM:226650
CTD Direct Evidence: marker/mechanism
ClinVar
MouseDO
CTD
PMID:7550237 PMID:7698759 PMID:7706760 PMID:8824879 PMID:8983017 More... NCBI chr 1:209,614,870...209,652,425
Ensembl chr 1:209,614,870...209,652,425
JBrowse link
G LAMC2 laminin subunit gamma 2 EXP
IAGP
ISS
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Junctional epidermolysis bullosa, non-Herlitz type
OMIM:226650
CTD
ClinVar
MouseDO
PMID:11564184 PMID:24550734 PMID:25741868 PMID:27375110 PMID:28492532 NCBI chr 1:183,186,264...183,258,968
Ensembl chr 1:183,186,238...183,245,127
JBrowse link
G LOC126805948 MED14-independent group 3 enhancer GRCh37_chr1:183154769-183155968 IAGP ClinVar Annotator: match by term: Junctional epidermolysis bullosa, non-Herlitz type ClinVar PMID:25741868 NCBI chr 1:183,185,549...183,186,833 JBrowse link
G LOC126861025 CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:105813739-105814938 IAGP ClinVar Annotator: match by term: Junctional epidermolysis bullosa, non-Herlitz type ClinVar PMID:28492532 NCBI chr10:104,053,981...104,055,180 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 IAGP 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 chr17:75,751,469...75,765,192
Ensembl chr17:75,751,594...75,765,236
JBrowse link
G ITGA6 integrin subunit alpha 6 IAGP ClinVar Annotator: match by term: Junctional epidermolysis bullosa with pyloric atresia
ClinVar Annotator: match by term: ITGA6-related condition | ClinVar Annotator: match by term: Junctional epidermolysis bullosa with pyloric atresia
ClinVar Annotator: match by term: Epidermolysis bullosa, junctional 6, with pyloric atresia | ClinVar Annotator: match by term: Junctional epidermolysis bullosa with pyloric atresia
ClinVar Annotator: match by term: Epidermolysis bullosa, junctional 6, with pyloric atresia | ClinVar Annotator: match by term: ITGA6-related condition | ClinVar Annotator: match by term: Junctional epidermolysis bullosa with pyloric atresia
ClinVar
OMIM
PMID:9158140 PMID:9185503 PMID:9804362 PMID:14675179 PMID:23496044 More... NCBI chr 2:172,427,336...172,506,459
Ensembl chr 2:172,234,216...172,506,459
JBrowse link
G ITGA6-AS1 ITGA6 and PDK1 antisense RNA 1 IAGP ClinVar Annotator: match by term: Junctional epidermolysis bullosa with pyloric atresia
ClinVar Annotator: match by term: Epidermolysis bullosa, junctional 6, with pyloric atresia
ClinVar Annotator: match by term: ITGA6-related condition
ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:172,464,262...172,466,022
Ensembl chr 2:172,464,259...172,556,596
JBrowse link
G ITGB4 integrin subunit beta 4 IAGP
ISS
EXP
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
OMIM:226730
CTD Direct Evidence: marker/mechanism
ClinVar
MouseDO
CTD
OMIM
PMID:6177243 PMID:7545057 PMID:9422533 PMID:9536098 PMID:9546354 More... NCBI chr17:75,721,459...75,757,818
Ensembl chr17:75,721,328...75,757,818
JBrowse link
G LOC130001338 ATAC-STARR-seq lymphoblastoid active region 28078 IAGP ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5B, WITH PYLORIC ATRESIA ClinVar PMID:25741868 PMID:26467025 NCBI chr 8:143,939,334...143,939,573 JBrowse link
G MYO6 myosin VI IAGP 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 6:75,749,239...75,919,537
Ensembl chr 6:75,749,201...75,919,537
JBrowse link
G PDK1-AS1 PDK1 and ITGA6 antisense RNA 1 IAGP ClinVar Annotator: match by term: Epidermolysis bullosa, junctional 6, with pyloric atresia
ClinVar Annotator: match by term: Junctional epidermolysis bullosa with pyloric atresia
ClinVar Annotator: match by term: Epidermolysis bullosa, junctional 6, with pyloric atresia | ClinVar Annotator: match by term: Junctional epidermolysis bullosa with pyloric atresia
ClinVar Annotator: match by term: Epidermolysis bullosa, junctional 6, with pyloric atresia | ClinVar Annotator: match by term: ITGA6-related condition | ClinVar Annotator: match by term: Junctional epidermolysis bullosa with pyloric atresia
ClinVar PMID:9158140 PMID:9185503 PMID:9804362 PMID:25741868 PMID:27607025 More... NCBI chr 2:172,480,732...172,556,464
Ensembl chr 2:172,464,259...172,556,596
JBrowse link
G PLEC plectin IAGP
EXP
ClinVar Annotator: match by term: Junctional epidermolysis bullosa with pyloric atresia
ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5B, WITH PYLORIC ATRESIA | ClinVar Annotator: match by term: Junctional epidermolysis bullosa with pyloric atresia
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 8:143,915,153...143,976,745
Ensembl chr 8:143,915,153...143,976,734
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 IAGP
ISS
EXP
ClinVar Annotator: match by term: Kindler syndrome
ClinVar Annotator: match by term: FERMT1-related condition | ClinVar Annotator: match by term: Kindler syndrome
OMIM:173650
CTD Direct Evidence: marker/mechanism
ClinVar
MouseDO
CTD
OMIM
PMID:12668616 PMID:12789646 PMID:14507403 PMID:14962093 PMID:15313809 More... NCBI chr20:6,074,845...6,123,030
Ensembl chr20:6,074,845...6,123,214
JBrowse link
G LOC130065404 ATAC-STARR-seq lymphoblastoid silent region 12663 IAGP ClinVar Annotator: match by term: Kindler syndrome ClinVar PMID:24635080 PMID:25741868 NCBI chr20:6,122,916...6,123,035 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 IAGP ClinVar Annotator: match by term: Epidermolysis bullosa simplex 1C, localized ClinVar PMID:25741868 PMID:28492532 NCBI chr17:75,751,469...75,765,192
Ensembl chr17:75,751,594...75,765,236
JBrowse link
G ITGB4 integrin subunit beta 4 IAGP ClinVar Annotator: match by term: Epidermolysis bullosa simplex 1C, localized ClinVar PMID:11328943 PMID:16473856 PMID:25741868 PMID:28492532 NCBI chr17:75,721,459...75,757,818
Ensembl chr17:75,721,328...75,757,818
JBrowse link
G KRT14 keratin 14 IAGP ClinVar Annotator: match by term: Epidermolysis bullosa simplex 1C, localized OMIM
ClinVar
PMID:7506606 PMID:7561171 PMID:9284105 PMID:10733662 PMID:11710919 More... NCBI chr17:41,582,279...41,586,895
Ensembl chr17:41,582,279...41,586,895
JBrowse link
G KRT5 keratin 5 IAGP ClinVar Annotator: match by term: Epidermolysis bullosa simplex 1C, localized ClinVar PMID:7520042 PMID:7537780 PMID:7688477 PMID:8807337 PMID:9036937 More... NCBI chr12:52,514,575...52,520,394
Ensembl chr12:52,514,575...52,520,530
JBrowse link
G LOC126861525 BRD4-independent group 4 enhancer GRCh37_chr12:52909857-52911056 IAGP ClinVar Annotator: match by term: Epidermolysis bullosa simplex 1C, localized ClinVar PMID:9036937 PMID:16098032 PMID:16601668 PMID:16882168 PMID:20030639 More... NCBI chr12:52,516,073...52,517,272 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 IAGP ClinVar Annotator: match by term: Epidermolysis bullosa simplex 2C, localized
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 2C, localized, modifier of
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 2C, Weber-Cockayne type
OMIM
ClinVar
PMID:7520042 PMID:7537780 PMID:7688477 PMID:8807337 PMID:11973334 More... NCBI chr12:52,514,575...52,520,394
Ensembl chr12:52,514,575...52,520,530
JBrowse link
G LOC126861525 BRD4-independent group 4 enhancer GRCh37_chr12:52909857-52911056 IAGP ClinVar Annotator: match by term: Epidermolysis bullosa simplex 2C, localized, modifier of ClinVar PMID:11973334 NCBI chr12:52,516,073...52,517,272 JBrowse link
G LOC126861526 BRD4-independent group 4 enhancer GRCh37_chr12:52912066-52913265 IAGP ClinVar Annotator: match by term: Epidermolysis bullosa simplex 2C, localized ClinVar PMID:8807337 PMID:25741868 NCBI chr12:52,518,282...52,519,481 JBrowse link
pemphigus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C3 complement C3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:74171 NCBI chr19:6,677,704...6,720,650
Ensembl chr19:6,677,704...6,730,562
JBrowse link
G CAST calpastatin IDA RGD PMID:16314468 RGD:5509814 NCBI chr 5:95,961,429...96,774,683
Ensembl chr 5:96,247,756...96,779,595
Ensembl chr 5:96,247,756...96,779,595
JBrowse link
G CAT catalase IEP protein:increased activities:skin: RGD PMID:22738420 RGD:9479165 NCBI chr11:34,438,934...34,472,060
Ensembl chr11:34,438,934...34,472,060
JBrowse link
G CD36 CD36 molecule (CD36 blood group) IDA RGD PMID:21255096 RGD:5490304 NCBI chr 7:80,602,207...80,679,274
Ensembl chr 7:80,369,575...80,679,277
JBrowse link
G CD40 CD40 molecule IDA RGD PMID:21255096 RGD:5490304 NCBI chr20:46,118,314...46,129,858
Ensembl chr20:46,118,271...46,129,863
JBrowse link
G CD40LG CD40 ligand IEP mRNA, protein:increased expression:skin, serum RGD PMID:17531537 RGD:8547773 NCBI chr  X:136,648,158...136,660,390
Ensembl chr  X:136,648,158...136,660,390
JBrowse link
G HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1 IAGP DNA:polymorphisms:cds:HLA-DQA1*0104, HLA-DQA1*03011 (human) RGD PMID:18780165 RGD:5147619 NCBI chr 6:32,637,406...32,655,272
Ensembl chr 6:32,628,179...32,647,062
JBrowse link
G HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 IAGP DNA:polymorphisms:cds:HLA-DQB1*0302, HLA-DQB1*0502 (human) RGD PMID:18780165 RGD:5147619 NCBI chr 6:32,659,467...32,666,657
Ensembl chr 6:32,659,467...32,668,383
JBrowse link
G HLA-DRB1 major histocompatibility complex, class II, DR beta 1 susceptibility IAGP DNA:polymorphisms (human)
DNA:polymorphism:cds:HLA-DRB1*0403, *0406, *1401, *1405, *1406 (human)
RGD PMID:18780165 PMID:9347787 RGD:5147619, RGD:40818304 NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848
JBrowse link
G IL2 interleukin 2 IDA RGD PMID:6432916 RGD:8693324 NCBI chr 4:122,451,470...122,456,725
Ensembl chr 4:122,451,470...122,456,725
JBrowse link
G MBL2 mannose binding lectin 2 IEP protein:increased expression:skin: RGD PMID:21327568 RGD:8693728 NCBI chr10:52,765,380...52,772,784
Ensembl chr10:52,765,380...52,772,784
JBrowse link
pemphigus vulgaris term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DSG3 desmoglein 3 ISS OMIM:169610 MouseDO NCBI chr18:31,447,741...31,478,702
Ensembl chr18:31,447,741...31,478,702
JBrowse link
G HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 IAGP RGD PMID:28197992 RGD:14747041 NCBI chr 6:32,659,467...32,666,657
Ensembl chr 6:32,659,467...32,668,383
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 IAGP
EXP
ClinVar Annotator: match by term: Pretibial dystrophic epidermolysis bullosa
ClinVar Annotator: match by term: Pretibial epidermolysis bullosa
ClinVar Annotator: match by term: Pretibial dystrophic epidermolysis bullosa | ClinVar Annotator: match by term: Pretibial epidermolysis bullosa
ClinVar Annotator: match by term: Epidermolysis bullosa, pretibial, autosomal recessive
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:7695699 PMID:7833933 PMID:7861014 PMID:8088783 PMID:8218237 More... NCBI chr 3:48,564,073...48,595,329
Ensembl chr 3:48,564,073...48,595,329
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 IAGP
ISS
ClinVar Annotator: match by term: Recessive dystrophic epidermolysis bullosa
ClinVar Annotator: match by term: Epidermolysis bullosa dystrophica inversa, autosomal recessive
ClinVar Annotator: match by term: Epidermolysis bullosa dystrophica inversa, autosomal recessive | ClinVar Annotator: match by term: Recessive dystrophic epidermolysis bullosa
OMIM:226600
ClinVar
MouseDO
PMID:1050445 PMID:7577595 PMID:7695699 PMID:7833933 PMID:7883979 More... NCBI chr 3:48,564,073...48,595,329
Ensembl chr 3:48,564,073...48,595,329
JBrowse link
G GRIP1 glutamate receptor interacting protein 1 ISS OMIM:226600 MouseDO NCBI chr12:66,347,431...67,069,338
Ensembl chr12:66,347,431...67,069,162
JBrowse link
G MIR711 microRNA 711 IAGP ClinVar Annotator: match by term: Epidermolysis bullosa dystrophica inversa, autosomal recessive ClinVar PMID:28492532 NCBI chr 3:48,578,902...48,578,977
Ensembl chr 3:48,578,902...48,578,977
JBrowse link
G MMP1 matrix metallopeptidase 1 IAGP ClinVar Annotator: match by term: Recessive dystrophic epidermolysis bullosa ClinVar PMID:25741868 PMID:28492532 NCBI chr11:102,789,919...102,798,160
Ensembl chr11:102,789,401...102,798,160
JBrowse link
Stevens-Johnson syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALB albumin EXP CTD Direct Evidence: therapeutic CTD PMID:12239465 NCBI chr 4:73,404,287...73,421,482
Ensembl chr 4:73,397,114...73,421,482
JBrowse link
G APCS amyloid P component, serum EXP CTD Direct Evidence: marker/mechanism CTD PMID:34142820 NCBI chr 1:159,587,826...159,588,865
Ensembl chr 1:159,587,826...159,588,865
JBrowse link
G C1QA complement C1q A chain EXP CTD Direct Evidence: marker/mechanism CTD PMID:34142820 NCBI chr 1:22,636,463...22,639,678
Ensembl chr 1:22,635,077...22,639,678
JBrowse link
G C1QC complement C1q C chain EXP CTD Direct Evidence: marker/mechanism CTD PMID:34142820 NCBI chr 1:22,643,633...22,648,108
Ensembl chr 1:22,643,014...22,648,110
JBrowse link
G CAV1 caveolin 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 7:116,525,009...116,561,185
Ensembl chr 7:116,524,994...116,561,179
JBrowse link
G CELF2 CUGBP Elav-like family member 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr10:10,462,550...11,336,675
Ensembl chr10:10,798,397...11,336,675
JBrowse link
G CFHR1 complement factor H related 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:34142820 NCBI chr 1:196,819,731...196,832,189
Ensembl chr 1:196,819,731...196,837,159
JBrowse link
G CFP complement factor properdin EXP CTD Direct Evidence: marker/mechanism CTD PMID:34142820 NCBI chr  X:47,623,282...47,630,305
Ensembl chr  X:47,623,172...47,630,305
JBrowse link
G CLU clusterin IEP mRNA:decreased expression:conjunctiva RGD PMID:12036968 RGD:8699507 NCBI chr 8:27,596,917...27,614,700
Ensembl chr 8:27,596,917...27,614,700
JBrowse link
G COPS5 COP9 signalosome subunit 5 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 8:67,043,079...67,062,133
Ensembl chr 8:67,043,079...67,083,783
JBrowse link
G CRP C-reactive protein EXP CTD Direct Evidence: marker/mechanism CTD PMID:34142820 NCBI chr 1:159,712,289...159,714,589
Ensembl chr 1:159,712,289...159,714,589
JBrowse link
G CSF3 colony stimulating factor 3 EXP CTD Direct Evidence: therapeutic CTD PMID:11321886 NCBI chr17:40,015,440...40,017,813
Ensembl chr17:40,015,361...40,017,813
JBrowse link
G CTNNB1 catenin beta 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 3:41,199,505...41,240,443
Ensembl chr 3:41,194,741...41,260,096
JBrowse link
G CUL1 cullin 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 7:148,697,756...148,801,110
Ensembl chr 7:148,697,914...148,801,110
JBrowse link
G CUL4A cullin 4A EXP CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr13:113,208,193...113,267,108
Ensembl chr13:113,208,193...113,267,108
JBrowse link
G DERL1 derlin 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 8:123,013,170...123,042,302
Ensembl chr 8:123,013,170...123,042,302
JBrowse link
G ELMO1 engulfment and cell motility 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 7:36,852,906...37,449,326
Ensembl chr 7:36,852,906...37,449,223
JBrowse link
G EP300 E1A binding protein p300 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr22:41,092,592...41,180,077
Ensembl chr22:41,092,510...41,180,077
JBrowse link
G FBXO6 F-box protein 6 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 1:11,664,200...11,674,354
Ensembl chr 1:11,664,200...11,674,354
JBrowse link
G GSTM1 glutathione S-transferase mu 1 IAGP RGD PMID:28689274 RGD:14700974 NCBI chr 1:109,687,817...109,693,745
Ensembl chr 1:109,687,814...109,709,039
JBrowse link
G HLA-A major histocompatibility complex, class I, A susceptibility IAGP
EXP
ClinVar Annotator: match by term: Hypersensitivity syndrome, carbamazepine-induced, susceptibility to
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:16538176 PMID:21428769 PMID:23588310 NCBI chr 6:29,942,532...29,945,870
Ensembl chr 6:29,941,260...29,949,572
JBrowse link
G HLA-B major histocompatibility complex, class I, B susceptibility IAGP
EXP
DNA:polymorphism:cds:HLA-B*5801 (human, Japanese)
CTD Direct Evidence: marker/mechanism
DNA:polymorphisms:cds:HLA-B*15:02, HLA-B*40:01, HLA-B*58:02 (human)
CTD
RGD
PMID:15057820 PMID:15743917 PMID:16538176 PMID:18855540 PMID:19694795 More... RGD:7364874, RGD:7365090 NCBI chr 6:31,353,875...31,357,179
Ensembl chr 6:31,353,872...31,367,067
JBrowse link
G HLA-C major histocompatibility complex, class I, C EXP CTD Direct Evidence: marker/mechanism CTD PMID:19629158 NCBI chr 6:31,268,749...31,272,092
Ensembl chr 6:31,268,749...31,272,130
JBrowse link
G HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 susceptibility IAGP DNA:polymorphism:cds:HLA-DQB1*0601 (human) RGD PMID:8841298 RGD:7483570 NCBI chr 6:32,659,467...32,666,657
Ensembl chr 6:32,659,467...32,668,383
JBrowse link
G IFNA2 interferon alpha 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 9:21,384,255...21,385,398
Ensembl chr 9:21,384,255...21,385,398
JBrowse link
G IFNG interferon gamma EXP CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740
JBrowse link
G LBP lipopolysaccharide binding protein EXP CTD Direct Evidence: marker/mechanism CTD PMID:34142820 NCBI chr20:38,346,482...38,377,013
Ensembl chr20:38,346,482...38,377,013
JBrowse link
G LRG1 leucine rich alpha-2-glycoprotein 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:34142820 NCBI chr19:4,536,402...4,540,036
Ensembl chr19:4,536,402...4,540,036
JBrowse link
G MIF macrophage migration inhibitory factor EXP CTD Direct Evidence: marker/mechanism CTD PMID:9372356 NCBI chr22:23,894,383...23,895,223
Ensembl chr22:23,894,383...23,895,227
JBrowse link
G MIR18A microRNA 18a EXP CTD Direct Evidence: marker/mechanism CTD PMID:34142820 NCBI chr13:91,350,751...91,350,821
Ensembl chr13:91,350,751...91,350,821
JBrowse link
G NEDD4 NEDD4 E3 ubiquitin protein ligase EXP CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr15:55,826,917...55,993,612
Ensembl chr15:55,826,922...55,993,660
JBrowse link
G NFKBIZ NFKB inhibitor zeta ISS MouseDO NCBI chr 3:101,827,990...101,861,022
Ensembl chr 3:101,827,991...101,861,022
JBrowse link
G NOS2 nitric oxide synthase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:10620138 NCBI chr17:27,756,766...27,800,529
Ensembl chr17:27,756,766...27,800,529
JBrowse link
G NUCB1 nucleobindin 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr19:48,900,312...48,923,372
Ensembl chr19:48,900,050...48,923,473
JBrowse link
G ORM1 orosomucoid 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:34142820 NCBI chr 9:114,323,098...114,326,479
Ensembl chr 9:114,323,098...114,326,479
JBrowse link
G ORM2 orosomucoid 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:34142820 NCBI chr 9:114,329,869...114,333,251
Ensembl chr 9:114,329,869...114,333,251
JBrowse link
G PARP1 poly(ADP-ribose) polymerase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 1:226,360,691...226,408,093
Ensembl chr 1:226,360,210...226,408,154
JBrowse link
G PML PML nuclear body scaffold EXP CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr15:73,994,716...74,047,827
Ensembl chr15:73,994,673...74,047,827
JBrowse link
G PROS1 protein S EXP CTD Direct Evidence: marker/mechanism CTD PMID:34142820 NCBI chr 3:93,873,051...93,973,896
Ensembl chr 3:93,873,051...93,980,003
JBrowse link
G PSMC5 proteasome 26S subunit, ATPase 5 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr17:63,827,431...63,832,019
Ensembl chr17:63,827,152...63,832,026
JBrowse link
G PTGER3 prostaglandin E receptor 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21966456 NCBI chr 1:70,852,358...71,047,816
Ensembl chr 1:70,852,353...71,047,816
JBrowse link
G PTGIS prostaglandin I2 synthase EXP CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr20:49,503,874...49,568,137
Ensembl chr20:49,503,874...49,568,137
JBrowse link
G RB1 RB transcriptional corepressor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr13:48,303,751...48,481,890
Ensembl chr13:48,303,744...48,599,436
JBrowse link
G RBX1 ring-box 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr22:40,951,378...40,973,309
Ensembl chr22:40,951,347...40,973,309
JBrowse link
G TNF tumor necrosis factor IEP protein:increased expression:blister: RGD PMID:9852250 RGD:7401184 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
JBrowse link
G VCP valosin containing protein EXP CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 9:35,056,064...35,072,625
Ensembl chr 9:35,053,928...35,072,668
JBrowse link
G VWF von Willebrand factor EXP CTD Direct Evidence: marker/mechanism CTD PMID:34142820 NCBI chr12:5,948,877...6,124,670
Ensembl chr12:5,948,877...6,124,770
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 IAGP
EXP
ClinVar Annotator: match by term: Transient bullous dermolysis of the newborn
ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA DYSTROPHICA, NEONATAL FORM
ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA DYSTROPHICA, NEONATAL FORM | ClinVar Annotator: match by term: Transient bullous dermolysis of the newborn
ClinVar Annotator: match by term: Epidermolysis bullosa dystrophica, dominant neonatal form
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:2653224 PMID:7695699 PMID:7833933 PMID:8088783 PMID:8218237 More... NCBI chr 3:48,564,073...48,595,329
Ensembl chr 3:48,564,073...48,595,329
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 IAGP Kindler syndrome, OMIM:173650 DNA:point_mutation:CDS:C787T, amino acid Q263X RGD PMID:12668616 RGD:1600405 NCBI chr20:6,074,845...6,123,030
Ensembl chr20:6,074,845...6,123,214
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 121157
    sensory system disease 24596
      skin disease 12826
        dermatitis 1396
          bullous skin disease 313
            pemphigoid + 40
            pemphigus + 27
            subcorneal pustular dermatosis 0
            vesiculobullous skin disease + 259
Path 2
Term Annotations click to browse term
  disease 121157
    Pathological Conditions, Signs and Symptoms 68282
      Signs and Symptoms 45558
        Neurologic Manifestations 35780
          sensory system disease 24596
            skin disease 12826
              dermatitis 1396
                bullous skin disease 313
                  pemphigoid + 40
                  pemphigus + 27
                  subcorneal pustular dermatosis 0
                  vesiculobullous skin disease + 259
paths to the root