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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:epidermolysis bullosa
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Accession:DOID:2730 term browser browse the term
Definition:Group of genetically determined disorders characterized by the blistering of skin and mucosae. There are four major forms: acquired, simple, junctional, and dystrophic. Each of the latter three has several varieties.
Synonyms:exact_synonym: Acantholysis Bullosa
 primary_id: MESH:D004820;   RDO:0000630
 xref: GARD:6359;   ICD10CM:Q81;   ICD10CM:Q81.9;   NCI:C67383
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
epidermolysis bullosa term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Exph5 exophilin 5 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:57,885,932...57,962,574
Ensembl chr 8:57,886,168...57,962,708
JBrowse link
G Itgb4 integrin subunit beta 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18348258 NCBI chr10:104,524,000...104,560,180
Ensembl chr10:104,523,996...104,561,078
JBrowse link
autosomal dominant dystrophic epidermolysis bullosa term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col7a1 collagen type VII alpha 1 chain ISO ClinVar Annotator: match by term: Epidermolysis bullosa dystrophica, autosomal dominant
ClinVar Annotator: match by OMIM:131750
OMIM
ClinVar
PMID:1680286 PMID:2653224 PMID:7577595 PMID:7861014 PMID:8170945 PMID:8288900 PMID:8755915 PMID:9347800 PMID:9668111 PMID:9856844 PMID:9892921 PMID:10084325 PMID:10408773 PMID:10469344 PMID:11781296 PMID:11874498 PMID:12485454 PMID:12735646 PMID:12787275 PMID:15888141 PMID:16484981 PMID:16557343 PMID:16965329 PMID:16971478 PMID:19681861 PMID:20598510 PMID:22266148 PMID:24033266 PMID:24794830 PMID:25741868 PMID:28492532 PMID:28830826 PMID:32860008 NCBI chr 8:117,694,441...117,726,844
Ensembl chr 8:117,694,605...117,726,844
JBrowse link
epidermolysis bullosa dystrophica term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col7a1 collagen type VII alpha 1 chain susceptibility ISO DNA:insertion-deletion
ClinVar Annotator: match by term: Dystrophic epidermolysis bullosa
ClinVar Annotator: match by term: Epidermolysis Bullosa Dystrophica
ClinVar Annotator: match by term: Epidermolysis bullosa dystrophica, AD, Epidermolysis bullosa dystrophica, AR
ClinVar Annotator: match by term: Hallopeau-Siemens Disease
ClinVar Annotator: match by OMIM:226600
ClinVar
OMIM
PMID:2653224 PMID:7577595 PMID:7833933 PMID:7861014 PMID:8037207 PMID:8618004 PMID:8644730 PMID:8755915 PMID:8900535 PMID:9042157 PMID:9242516 PMID:9326325 PMID:9347800 PMID:9668111 PMID:9740253 PMID:9804332 PMID:9856844 PMID:9881948 PMID:9892921 PMID:10084325 PMID:10408773 PMID:10469344 PMID:10504458 PMID:10836608 PMID:10944088 PMID:10980546 PMID:11781296 PMID:11843659 PMID:11874498 PMID:12485454 PMID:12653705 PMID:12735646 PMID:12787275 PMID:12813757 PMID:15550148 PMID:15816848 PMID:15888141 PMID:16189623 PMID:16271705 PMID:16439963 PMID:16484981 PMID:16500083 PMID:16971478 PMID:17425959 PMID:17495952 PMID:17501948 PMID:17916216 PMID:18030675 PMID:18414213 PMID:18440202 PMID:18558993 PMID:18565177 PMID:18951764 PMID:19439919 PMID:19665875 PMID:19681861 PMID:19694003 PMID:19694005 PMID:19814614 PMID:20108398 PMID:20108428 PMID:20184583 PMID:20357813 PMID:20585476 PMID:20598510 PMID:20920254 PMID:21448560 PMID:21471992 PMID:22070715 PMID:22209565 PMID:22266148 PMID:23237810 PMID:23786535 PMID:23947675 PMID:24032424 PMID:24033266 PMID:24210835 PMID:24252097 PMID:24279917 PMID:24577406 PMID:24794830 PMID:24831336 PMID:24947307 PMID:25155989 PMID:25525159 PMID:25556825 PMID:25741868 PMID:25819062 PMID:25913354 PMID:26076072 PMID:26102279 PMID:26148662 PMID:26763448 PMID:26864810 PMID:27153395 PMID:27544590 PMID:27899325 PMID:28492532 PMID:28830826 PMID:28853495 PMID:29130490 PMID:29427316 PMID:29473190 PMID:30280950 PMID:32860008, PMID:8275094 RGD:1600946 NCBI chr 8:117,694,441...117,726,844
Ensembl chr 8:117,694,605...117,726,844
JBrowse link
G Igfbp3 insulin-like growth factor binding protein 3 ISO mRNA,protein:decreased expression:skin: RGD PMID:15140235 RGD:12743601 NCBI chr14:87,457,647...87,465,374
Ensembl chr14:87,457,647...87,465,374
JBrowse link
G Mir711 microRNA 711 ISO ClinVar Annotator: match by term: Dystrophic epidermolysis bullosa ClinVar PMID:25741868 NCBI chr 8:117,711,567...117,711,634
Ensembl chr 8:117,711,567...117,711,634
JBrowse link
G Mmp1 matrix metallopeptidase 1 severity ISO DNA:insertion:promoter:g.-1607_-1606insG (human) OMIM PMID:18030675 RGD:8549728 NCBI chr 8:5,703,206...5,723,593
Ensembl chr 8:5,703,206...5,723,591
JBrowse link
Epidermolysis Bullosa Dystrophica, Autosomal Recessive, Localisata Variant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col7a1 collagen type VII alpha 1 chain ISO ClinVar Annotator: match by null ClinVar PMID:8755915 PMID:9804332 PMID:16965329 NCBI chr 8:117,694,441...117,726,844
Ensembl chr 8:117,694,605...117,726,844
JBrowse link
Epidermolysis Bullosa Pruriginosa term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col7a1 collagen type VII alpha 1 chain ISO ClinVar Annotator: match by term: Epidermolysis bullosa pruriginosa
ClinVar Annotator: match by term: DYSTROPHIC EPIDERMOLYSIS BULLOSA PRURIGINOSA
ClinVar Annotator: match by term: Epidermolysis bullosa pruriginosa, autosomal recessive
ClinVar Annotator: match by term: Epidermolysis bullosa pruriginosa, autosomal dominant
OMIM
ClinVar
PMID:8755915 PMID:9182828 PMID:9242516 PMID:9718359 PMID:9856844 PMID:9881948 PMID:10383749 PMID:10408773 PMID:11781296 PMID:12485454 PMID:12787275 PMID:15888141 PMID:16965329 PMID:16971478 PMID:17434045 PMID:19665875 PMID:19681861 PMID:20598510 PMID:21448560 PMID:22266148 PMID:24033266 PMID:25741868 PMID:26076072 PMID:26148662 PMID:28492532 PMID:28830826 PMID:32860008 NCBI chr 8:117,694,441...117,726,844
Ensembl chr 8:117,694,605...117,726,844
JBrowse link
epidermolysis bullosa simplex term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dst dystonin ISS OMIM:601001 | OMIM:615425 MouseDO NCBI chr 9:37,902,336...38,296,961
Ensembl chr 9:37,902,303...38,196,273
JBrowse link
G Itgb4 integrin subunit beta 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:104,524,000...104,560,180
Ensembl chr10:104,523,996...104,561,078
JBrowse link
G Krt14 keratin 14 susceptibility ISO DNA:point mutations
ClinVar Annotator: match by term: Epidermolysis bullosa simplex
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:1717157 PMID:8601736 PMID:10583131 PMID:11331879 PMID:12925204 PMID:20151404 PMID:21623745 PMID:25326635 PMID:25741868, PMID:1717157 RGD:1600173 NCBI chr10:88,118,029...88,122,233
Ensembl chr10:88,055,823...88,122,233
JBrowse link
G Krt5 keratin 5 susceptibility ISO DNA:mutation
ClinVar Annotator: match by term: Epidermolysis bullosa simplex
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:1718160 PMID:2476664 PMID:7682695 PMID:7686424 PMID:8595431 PMID:8799157 PMID:8807337 PMID:9036937 PMID:9129237 PMID:10494094 PMID:11167681 PMID:11407988 PMID:11973334 PMID:12925204 PMID:15324323 PMID:16465624 PMID:16882168 PMID:17039244 PMID:17855059 PMID:18384561 PMID:20030639 PMID:20108434 PMID:20199538 PMID:20923750 PMID:21375516 PMID:21623745 PMID:25741868 PMID:26707537 PMID:26743602 PMID:28492532 PMID:28561874, PMID:1372711 RGD:1600195 NCBI chr 7:143,320,142...143,324,536
Ensembl chr 7:143,316,920...143,453,546
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO RGD PMID:23894602 RGD:13204851 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
G Plec plectin ISO DNA:deletions: ; 2719de19, 5866delC; associated with muscular dystrophies
ClinVar Annotator: match by term: Epidermolysis bullosa simplex
ClinVar PMID:11851880 PMID:23289980 PMID:25741868, PMID:8894687 RGD:1599911 NCBI chr 7:117,230,319...117,291,859
Ensembl chr 7:117,230,319...117,289,961
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 ISO ClinVar Annotator: match by term: Epidermolysis bullosa herpetiformis, Dowling-Meara
ClinVar Annotator: match by term: Epidermolysis bullosa simplex Dowling-Meara type
ClinVar
OMIM
PMID:1717157 PMID:9804355 PMID:10583131 PMID:10730767 PMID:10733662 PMID:11331879 PMID:16098032 PMID:20151404 PMID:21623745 PMID:25326635 PMID:25741868 NCBI chr10:88,118,029...88,122,233
Ensembl chr10:88,055,823...88,122,233
JBrowse link
G Krt5 keratin 5 ISO ClinVar Annotator: match by term: Epidermolysis bullosa herpetiformis, Dowling-Meara
ClinVar Annotator: match by term: Epidermolysis bullosa simplex Dowling-Meara type
ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Dowling-Meara type, with severe palmoplantar keratoderma
ClinVar
OMIM
PMID:1372711 PMID:8757772 PMID:10234505 PMID:10383750 PMID:10730767 PMID:16882168 PMID:20030639 PMID:25741868 PMID:26743602 PMID:28561874 NCBI chr 7:143,320,142...143,324,536
Ensembl chr 7:143,316,920...143,453,546
JBrowse link
epidermolysis bullosa simplex generalized type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Klhl24 kelch-like family member 24 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Koebner type ClinVar PMID:25741868 PMID:27798626 PMID:27889062 NCBI chr11:84,613,101...84,643,674
Ensembl chr11:84,615,760...84,633,504
JBrowse link
G Krt14 keratin 14 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Koebner type ClinVar
OMIM
PMID:1703046 PMID:1720261 PMID:7682883 NCBI chr10:88,118,029...88,122,233
Ensembl chr10:88,055,823...88,122,233
JBrowse link
G Krt5 keratin 5 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Koebner type
ClinVar Annotator: match by term: Epidermolysis bullosa simplex, generalized, with severe palmoplantar keratosis
ClinVar
OMIM
PMID:1718160 PMID:7520042 PMID:7534039 PMID:7686424 PMID:8807337 PMID:9740251 PMID:11407988 PMID:11407989 PMID:16882168 PMID:17039244 PMID:20199538 PMID:25741868 NCBI chr 7:143,320,142...143,324,536
Ensembl chr 7:143,316,920...143,453,546
JBrowse link
epidermolysis bullosa simplex localized type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Galk1 galactokinase 1 ISO ClinVar Annotator: match by term: Localized epidermolysis bullosa simplex ClinVar PMID:25741868 NCBI chr10:104,560,322...104,564,499
Ensembl chr10:104,560,303...104,564,480
JBrowse link
G Itgb4 integrin subunit beta 4 ISO ClinVar Annotator: match by term: Localized epidermolysis bullosa simplex OMIM
ClinVar
PMID:12485428 PMID:25741868 NCBI chr10:104,524,000...104,560,180
Ensembl chr10:104,523,996...104,561,078
JBrowse link
G Krt14 keratin 14 ISO ClinVar Annotator: match by term: Localized epidermolysis bullosa simplex OMIM
ClinVar
PMID:7506606 PMID:7561171 PMID:9284105 NCBI chr10:88,118,029...88,122,233
Ensembl chr10:88,055,823...88,122,233
JBrowse link
G Krt5 keratin 5 ISO ClinVar Annotator: match by term: Localized epidermolysis bullosa simplex OMIM
ClinVar
PMID:7520042 PMID:7537780 PMID:7688477 PMID:8807337 PMID:11973334 PMID:12648226 PMID:16098032 PMID:16882168 PMID:18384561 PMID:20030639 PMID:20199538 PMID:25741868 PMID:26743602 PMID:28492532 PMID:28561874 NCBI chr 7:143,320,142...143,324,536
Ensembl chr 7:143,316,920...143,453,546
JBrowse link
epidermolysis bullosa simplex Ogna type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Plec plectin ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 1
ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Ogna type
OMIM
ClinVar
PMID:11851880 PMID:15810881 PMID:18414213 PMID:20016501 PMID:22864774 PMID:25741868 PMID:26467025 PMID:28400893 PMID:28492532 PMID:29334134 NCBI chr 7:117,230,319...117,291,859
Ensembl chr 7:117,230,319...117,289,961
JBrowse link
Epidermolysis Bullosa Simplex with Migratory Circinate Erythema term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt5 keratin 5 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex with migratory circinate erythema OMIM
ClinVar
PMID:7520042 PMID:8807337 PMID:9036937 PMID:12925204 PMID:15324323 PMID:25741868 NCBI chr 7:143,320,142...143,324,536
Ensembl chr 7:143,316,920...143,453,546
JBrowse link
epidermolysis bullosa simplex with mottled pigmentation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt5 keratin 5 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex with mottled pigmentation OMIM
ClinVar
PMID:2476664 PMID:8799157 PMID:9129237 PMID:10494094 PMID:11167681 PMID:16882168 PMID:20030639 PMID:20108434 PMID:20923750 PMID:25741868 PMID:26743602 PMID:28561874 NCBI chr 7:143,320,142...143,324,536
Ensembl chr 7:143,316,920...143,453,546
JBrowse link
epidermolysis bullosa simplex with muscular dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adck5 aarF domain containing kinase 5 ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY ClinVar PMID:28492532 NCBI chr 7:117,643,976...117,661,789
Ensembl chr 7:117,643,206...117,661,845
JBrowse link
G Bop1 BOP1 ribosomal biogenesis factor ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY ClinVar PMID:28492532 NCBI chr 7:117,514,529...117,538,342
Ensembl chr 7:117,514,533...117,538,342
JBrowse link
G Cpsf1 cleavage and polyadenylation specific factor 1 ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY ClinVar PMID:28492532 NCBI chr 7:117,661,779...117,672,373
Ensembl chr 7:117,661,661...117,672,373
JBrowse link
G Cyc1 cytochrome c-1 ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY ClinVar PMID:28492532 NCBI chr 7:117,409,576...117,411,953
Ensembl chr 7:117,409,576...117,411,953
JBrowse link
G Cyhr1 cysteine and histidine rich 1 ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY ClinVar PMID:28492532 NCBI chr 7:117,720,909...117,722,734
Ensembl chr 7:117,706,727...117,722,723
JBrowse link
G Dgat1 diacylglycerol O-acyltransferase 1 ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY ClinVar PMID:28492532 NCBI chr 7:117,566,363...117,576,735
Ensembl chr 7:117,566,368...117,576,737
JBrowse link
G Exosc4 exosome component 4 ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY ClinVar PMID:28492532 NCBI chr 7:117,390,302...117,393,044
Ensembl chr 7:117,390,285...117,393,719
JBrowse link
G Fbxl6 F-box and leucine-rich repeat protein 6 ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY ClinVar PMID:28492532 NCBI chr 7:117,602,056...117,604,954
Ensembl chr 7:117,602,041...117,605,141
JBrowse link
G Foxh1 forkhead box H1 ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY ClinVar PMID:28492532 NCBI chr 7:117,730,307...117,733,076
Ensembl chr 7:117,730,307...117,732,387
JBrowse link
G Gpaa1 glycosylphosphatidylinositol anchor attachment 1 ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY ClinVar PMID:28492532 NCBI chr 7:117,394,367...117,397,950
Ensembl chr 7:117,394,372...117,397,956
JBrowse link
G Grina glutamate ionotropic receptor NMDA type subunit associated protein 1 ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY ClinVar PMID:28492532 NCBI chr 7:117,304,742...117,307,916
Ensembl chr 7:117,304,742...117,307,916
JBrowse link
G Hgh1 HGH1 homolog ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY ClinVar PMID:28492532 NCBI chr 7:117,434,419...117,437,208
Ensembl chr 7:117,434,419...117,437,205
JBrowse link
G Hsf1 heat shock transcription factor 1 ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY ClinVar PMID:28492532 NCBI chr 7:117,538,523...117,565,478
Ensembl chr 7:117,538,523...117,565,478
JBrowse link
G Kifc2 kinesin family member C2 ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY ClinVar PMID:28492532 NCBI chr 7:117,722,732...117,730,702
Ensembl chr 7:117,723,263...117,730,702
JBrowse link
G Maf1 MAF1 homolog, negative regulator of RNA polymerase III ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY ClinVar PMID:28492532 NCBI chr 7:117,417,643...117,420,722
Ensembl chr 7:117,417,687...117,420,719
JBrowse link
G Mroh1 maestro heat-like repeat family member 1 ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY ClinVar PMID:28492532 NCBI chr 7:117,445,191...117,472,418
Ensembl chr 7:117,445,144...117,514,612
JBrowse link
G Oplah 5-oxoprolinase (ATP-hydrolysing) ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY ClinVar PMID:28492532 NCBI chr 7:117,353,951...117,394,205
Ensembl chr 7:117,353,786...117,369,159
JBrowse link
G Parp10 poly (ADP-ribose) polymerase family, member 10 ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY ClinVar PMID:28492532 NCBI chr 7:117,291,592...117,300,878
Ensembl chr 7:117,291,877...117,300,662
JBrowse link
G Plec plectin ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex with muscular dystrophy
ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY
ClinVar Annotator: match by term: Epidermolysa bullosa simplex and limb girdle muscular dystrophy
ClinVar Annotator: match by null
ClinVar Annotator: match by OMIM:226670
OMIM
ClinVar
PMID:8696340 PMID:8830774 PMID:8894687 PMID:9536098 PMID:10446808 PMID:10652002 PMID:15654962 PMID:15810881 PMID:17576681 PMID:18414213 PMID:19945614 PMID:20016501 PMID:20665883 PMID:21263134 PMID:22864774 PMID:23289980 PMID:23774525 PMID:24033266 PMID:25741868 PMID:25987458 PMID:26467025 PMID:27392081 PMID:28400893 PMID:28492532 PMID:29050564 PMID:29334134 PMID:29797489 PMID:30293987 PMID:31319225 PMID:31641117 NCBI chr 7:117,230,319...117,291,859
Ensembl chr 7:117,230,319...117,289,961
JBrowse link
G Scrt1 scratch family transcriptional repressor 1 ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY ClinVar PMID:28492532 NCBI chr 7:117,583,453...117,587,103
Ensembl chr 7:117,583,453...117,587,103
JBrowse link
G Scx scleraxis bHLH transcription factor ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY ClinVar PMID:28492532 NCBI chr 7:117,519,075...117,521,093
Ensembl chr 7:117,519,075...117,521,093
JBrowse link
G Sharpin SHANK-associated RH domain interactor ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY ClinVar PMID:28492532 NCBI chr 7:117,413,151...117,417,455
Ensembl chr 7:117,413,152...117,417,363
JBrowse link
G Slc39a4 solute carrier family 39 member 4 ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY ClinVar PMID:28492532 NCBI chr 7:117,675,718...117,682,586
Ensembl chr 7:117,675,720...117,680,004
JBrowse link
G Slc52a2 solute carrier family 52 member 2 ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY ClinVar PMID:28492532 NCBI chr 7:117,605,038...117,608,460
Ensembl chr 7:117,605,050...117,608,460
JBrowse link
G Spatc1 spermatogenesis and centriole associated 1 ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY ClinVar PMID:28492532 NCBI chr 7:117,326,279...117,349,957
Ensembl chr 7:117,326,279...117,349,957
JBrowse link
G Tmem249 transmembrane protein 249 ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY ClinVar PMID:28492532 NCBI chr 7:117,599,001...117,601,894 JBrowse link
G Tonsl tonsoku-like, DNA repair protein ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY ClinVar PMID:28492532 NCBI chr 7:117,688,397...117,703,139
Ensembl chr 7:117,688,397...117,703,094
JBrowse link
G Vps28 VPS28 subunit of ESCRT-I ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY ClinVar PMID:28492532 NCBI chr 7:117,684,339...117,688,187
Ensembl chr 7:117,684,339...117,688,187
JBrowse link
Epidermolysis Bullosa Simplex with Nail Dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arhgap10 Rho GTPase activating protein 10 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy ClinVar NCBI chr19:34,138,978...34,406,593
Ensembl chr19:34,139,997...34,402,436
JBrowse link
G Bclaf1 BCL2-associated transcription factor 1 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy ClinVar NCBI chr 1:15,799,753...15,828,838
Ensembl chr 1:15,782,477...15,860,624
JBrowse link
G Dcun1d2 defective in cullin neddylation 1 domain containing 2 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy ClinVar NCBI chr16:81,008,177...81,034,869
Ensembl chr16:81,587,446...81,614,553
Ensembl chr16:81,587,446...81,614,553
JBrowse link
G Frem2 FRAS1 related extracellular matrix 2 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy ClinVar NCBI chr 2:142,747,501...142,885,604
Ensembl chr 2:142,747,501...142,885,604
JBrowse link
G Gpr33 G protein-coupled receptor 33 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy ClinVar NCBI chr 6:72,804,843...72,805,848
Ensembl chr 6:72,804,843...72,805,848
JBrowse link
G Hrnr hornerin ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy ClinVar NCBI chr 2:193,626,283...193,639,848
Ensembl chr 2:193,627,243...193,634,181
JBrowse link
G Ids iduronate 2-sulfatase ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy ClinVar NCBI chr 8:69,447,971...69,466,708
Ensembl chr 8:69,449,801...69,466,618
JBrowse link
G Plec plectin ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy OMIM
ClinVar
PMID:15810881 PMID:25712130 PMID:25741868 PMID:28492532 NCBI chr 7:117,230,319...117,291,859
Ensembl chr 7:117,230,319...117,289,961
JBrowse link
G Rp1l1 RP1 like 1 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy ClinVar NCBI chr15:47,344,380...47,384,461
Ensembl chr15:47,373,120...47,383,508
JBrowse link
G Tmem249 transmembrane protein 249 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy ClinVar NCBI chr 7:117,599,001...117,601,894 JBrowse link
Epidermolysis Bullosa Simplex with Pyloric Atresia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Plec plectin ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex with pyloric atresia
ClinVar Annotator: match by term: EBS WITH PYLORIC ATRESIA
ClinVar Annotator: match by null
ClinVar Annotator: match by OMIM:612138
OMIM
ClinVar
PMID:14675180 PMID:15654962 PMID:15681471 PMID:15810881 PMID:25741868 PMID:28492532 NCBI chr 7:117,230,319...117,291,859
Ensembl chr 7:117,230,319...117,289,961
JBrowse link
Epidermolysis Bullosa Simplex, Autosomal Recessive 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dst dystonin ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:37,902,336...38,296,961
Ensembl chr 9:37,902,303...38,196,273
JBrowse link
G Krt14 keratin 14 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex, autosomal recessive
ClinVar Annotator: match by null
ClinVar Annotator: match by OMIM:601001
OMIM
ClinVar
PMID:7525407 PMID:7525408 PMID:7526933 PMID:7561171 PMID:8875963 PMID:9284105 PMID:10971341 PMID:25741868 PMID:28492532 PMID:29130490 NCBI chr10:88,118,029...88,122,233
Ensembl chr10:88,055,823...88,122,233
JBrowse link
G Krt5 keratin 5 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex, autosomal recessive OMIM
ClinVar
PMID:11973334 PMID:18384561 PMID:25741868 NCBI chr 7:143,320,142...143,324,536
Ensembl chr 7:143,316,920...143,453,546
JBrowse link
Epidermolysis Bullosa Simplex, Autosomal Recessive 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dst dystonin ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex, autosomal recessive 2
ClinVar Annotator: match by OMIM:615425
OMIM
ClinVar
PMID:20164846 PMID:22113475 PMID:24033266 PMID:25059916 PMID:25741868 PMID:28492532 PMID:31474762 NCBI chr 9:37,902,336...38,296,961
Ensembl chr 9:37,902,303...38,196,273
JBrowse link
EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED, WITH SCARRING AND HAIR LOSS term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Klhl24 kelch-like family member 24 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex, generalized, with scarring and hair loss ClinVar
OMIM
PMID:25741868 PMID:27798626 PMID:27889062 NCBI chr11:84,613,101...84,643,674
Ensembl chr11:84,615,760...84,633,504
JBrowse link
epidermolysis bullosa with congenital localized absence of skin and deformity of nails term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col7a1 collagen type VII alpha 1 chain ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA DYSTROPHICA, BART TYPE OMIM
ClinVar
PMID:2425097 PMID:5910871 PMID:8618021 PMID:8755915 PMID:10408773 PMID:11710955 PMID:11781296 PMID:11843659 PMID:12485454 PMID:12787275 PMID:15888141 PMID:16971478 PMID:19681861 PMID:20598510 PMID:22266148 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 8:117,694,441...117,726,844
Ensembl chr 8:117,694,605...117,726,844
JBrowse link
Epidermolysis Bullosa, Lethal Acantholytic term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dsp desmoplakin ISO ClinVar Annotator: match by term: Lethal acantholytic epidermolysis bullosa
ClinVar Annotator: match by term: Epidermolysis bullosa, lethal acantholytic
ClinVar Annotator: match by OMIM:609638
OMIM
ClinVar
PMID:10395892 PMID:15210133 PMID:15941723 PMID:16175511 PMID:16774985 PMID:16917092 PMID:18382419 PMID:18632414 PMID:19863551 PMID:19924139 PMID:20031617 PMID:20129281 PMID:20152563 PMID:20302578 PMID:20400443 PMID:20435227 PMID:20525856 PMID:20613772 PMID:20716751 PMID:20738328 PMID:20829228 PMID:20864495 PMID:21062920 PMID:21397041 PMID:21606390 PMID:21606396 PMID:21636032 PMID:21723241 PMID:21756917 PMID:21859740 PMID:22214898 PMID:22949226 PMID:23137101 PMID:23292937 PMID:23299917 PMID:23381804 PMID:23396983 PMID:23465283 PMID:23514727 PMID:23524727 PMID:23861362 PMID:23911551 PMID:24033266 PMID:24055113 PMID:24070718 PMID:24125834 PMID:24448499 PMID:24503780 PMID:24704780 PMID:25163546 PMID:25196244 PMID:25225338 PMID:25351510 PMID:25447171 PMID:25550050 PMID:25569433 PMID:25616645 PMID:25637381 PMID:25661095 PMID:25676813 PMID:25691752 PMID:25693453 PMID:25741868 PMID:25820315 PMID:26073755 PMID:26138720 PMID:26230511 PMID:26332594 PMID:26383259 PMID:26498160 PMID:26569459 PMID:26585738 PMID:26604139 PMID:26656175 PMID:26743238 PMID:26833927 PMID:26899768 PMID:27000522 PMID:27097650 PMID:27153395 PMID:27194543 PMID:27329731 PMID:27435932 PMID:27532257 PMID:27707468 PMID:27884173 PMID:27930701 PMID:28074886 PMID:28087426 PMID:28166811 PMID:28254189 PMID:28301460 PMID:28341588 PMID:28416588 PMID:28473349 PMID:28492532 PMID:28527814 PMID:28759816 PMID:28798025 PMID:29511324 PMID:29750433 PMID:29759408 PMID:29802319 PMID:30354334 PMID:30731207 PMID:30775854 PMID:30820396 PMID:30919684 PMID:31118017 PMID:31264976 PMID:31333075 PMID:31568572 NCBI chr17:27,286,811...27,334,453
Ensembl chr17:27,286,796...27,334,379
JBrowse link
Epidermolysis Bullosa, Nonspecific, Autosomal Recessive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Exph5 exophilin 5 ISO ClinVar Annotator: match by This custom term has been created by RGD curators.
ClinVar Annotator: match by term: Epidermolysis bullosa, nonspecific, autosomal recessive
OMIM
ClinVar
PMID:23176819 PMID:25741868 NCBI chr 8:57,885,932...57,962,574
Ensembl chr 8:57,886,168...57,962,708
JBrowse link
Interstitial Lung Disease, Nephrotic Syndrome, and Epidermolysis Bullosa, Congenital term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Itga3 integrin subunit alpha 3 ISO ClinVar Annotator: match by term: Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital
ClinVar Annotator: match by OMIM:614748
OMIM
ClinVar
PMID:22512483 PMID:24088041 PMID:25741868 PMID:25810266 PMID:26633545 NCBI chr10:82,855,841...82,887,755
Ensembl chr10:82,855,613...82,887,497
JBrowse link
junctional epidermolysis bullosa term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col17a1 collagen type XVII alpha 1 chain susceptibility ISO ClinVar Annotator: match by term: Epidermolysis bullosa junctionalis
ClinVar Annotator: match by term: Junctional epidermolysis bullosa
ClinVar Annotator: match by term: Epidermolysis bullosa, junctional
ClinVar PMID:7550320 PMID:9199555 PMID:9740252 PMID:10398261 PMID:10577906 PMID:16473856 PMID:25741868, PMID:7550320 RGD:1600884 NCBI chr 1:267,416,681...267,465,049
Ensembl chr 1:267,417,459...267,463,705
JBrowse link
G Itga6 integrin subunit alpha 6 ISO epidermolysis bullosa with pyloric atresia, OMIM:226730 RGD PMID:9185503 RGD:1600016 NCBI chr 3:58,442,904...58,515,124
Ensembl chr 3:58,443,101...58,515,124
JBrowse link
G Itgb4 integrin subunit beta 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:7545057 NCBI chr10:104,524,000...104,560,180
Ensembl chr10:104,523,996...104,561,078
JBrowse link
G Lama3 laminin subunit alpha 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:226700
CTD
ClinVar
PMID:12915477, PMID:8586427 RGD:1600080 NCBI chr18:3,704,866...3,941,215
Ensembl chr18:3,705,916...3,940,838
JBrowse link
G Lamb3 laminin subunit beta 3 susceptibility ISO DNA:nonsense mutation
ClinVar Annotator: match by term: Junctional epidermolysis bullosa
ClinVar Annotator: match by term: Epidermolysis bullosa junctionalis
ClinVar Annotator: match by term: Epidermolysis bullosa, junctional
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:226700
ClinVar
CTD
PMID:7698759 PMID:8824879 PMID:8983017 PMID:9205497 PMID:9242513 PMID:9326326 PMID:9767254 PMID:10577906 PMID:11023379 PMID:11296269 PMID:11298117 PMID:11451332 PMID:11689492 PMID:11810295 PMID:12813757 PMID:15311214 PMID:15538630 PMID:15663509 PMID:16473856 PMID:17476356 PMID:17916201 PMID:21801158 PMID:22931927 PMID:24033266 PMID:25708563 PMID:25741868 PMID:25950805 PMID:27062385 PMID:27375110 PMID:28492532 PMID:28561256 PMID:28830826 PMID:29334134 PMID:29900604, PMID:7698759 RGD:1600209 NCBI chr13:112,031,614...112,073,187
Ensembl chr13:112,031,594...112,073,186
JBrowse link
G Lamc2 laminin subunit gamma 2 susceptibility ISO DNA:splice-site mutation, deletion-insertion
ClinVar Annotator: match by term: Junctional epidermolysis bullosa
ClinVar Annotator: match by term: Epidermolysis bullosa, junctional
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:11810295 PMID:15370542 PMID:15373767 PMID:15538630 PMID:16473856 PMID:17916201 PMID:25741868 PMID:28492532 PMID:28830826 PMID:31395954, PMID:8012393 RGD:1600210 NCBI chr13:70,566,643...70,632,126
Ensembl chr13:70,566,643...70,626,252
JBrowse link
junctional epidermolysis bullosa Herlitz type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Itga6 integrin subunit alpha 6 ISS OMIM:226700 MouseDO NCBI chr 3:58,442,904...58,515,124
Ensembl chr 3:58,443,101...58,515,124
JBrowse link
G Lama3 laminin subunit alpha 3 ISO ClinVar Annotator: match by term: Herlitz-type junctional epidermolysis bullosa
ClinVar Annotator: match by term: Junctional epidermolysis bullosa gravis of Herlitz
ClinVar
OMIM
PMID:7633458 PMID:8530087 PMID:8586427 PMID:8618022 PMID:8824879 PMID:8983017 PMID:10366601 PMID:11810295 PMID:12915477 PMID:12943669 PMID:15373767 PMID:16473856 PMID:16971478 PMID:17362460 PMID:22434185 PMID:23869449 PMID:24033266 PMID:25363238 PMID:25525159 PMID:25741868 PMID:26635394 PMID:27375110 PMID:27827380 PMID:28087116 PMID:28492532 NCBI chr18:3,704,866...3,941,215
Ensembl chr18:3,705,916...3,940,838
JBrowse link
G Lamb3 laminin subunit beta 3 ISO ClinVar Annotator: match by term: Herlitz-type junctional epidermolysis bullosa
ClinVar Annotator: match by term: Junctional epidermolysis bullosa gravis of Herlitz
ClinVar
OMIM
PMID:7550237 PMID:7698759 PMID:7706760 PMID:8362910 PMID:8541876 PMID:8755931 PMID:8824879 PMID:8983017 PMID:9160387 PMID:9205497 PMID:9242513 PMID:9326326 PMID:9457915 PMID:9579554 PMID:9690563 PMID:9767254 PMID:9856852 PMID:10577906 PMID:11023379 PMID:11296269 PMID:11298117 PMID:11451332 PMID:11689492 PMID:11810295 PMID:12813757 PMID:15311214 PMID:15373767 PMID:15538630 PMID:15663509 PMID:15725250 PMID:16403119 PMID:16439963 PMID:16473856 PMID:16971478 PMID:17476356 PMID:17916201 PMID:21801158 PMID:22931927 PMID:23278291 PMID:24947307 PMID:25525159 PMID:25708563 PMID:25741868 PMID:25950805 PMID:27062385 PMID:27375110 PMID:27480391 PMID:28087116 PMID:28392661 PMID:28492532 PMID:28830826 PMID:29334134 PMID:29900604 PMID:30544381 NCBI chr13:112,031,614...112,073,187
Ensembl chr13:112,031,594...112,073,186
JBrowse link
G Lamc2 laminin subunit gamma 2 ISO ClinVar Annotator: match by term: Herlitz-type junctional epidermolysis bullosa
ClinVar Annotator: match by term: Junctional epidermolysis bullosa gravis of Herlitz
ClinVar
OMIM
PMID:7849725 PMID:8012393 PMID:8012394 PMID:8824879 PMID:8983017 PMID:9085255 PMID:10951251 PMID:11231327 PMID:11564184 PMID:11810295 PMID:11907499 PMID:15373767 PMID:16473856 PMID:17916201 PMID:25741868 PMID:27696112 PMID:28492532 PMID:31395954 NCBI chr13:70,566,643...70,632,126
Ensembl chr13:70,566,643...70,626,252
JBrowse link
junctional epidermolysis bullosa non-Herlitz type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col17a1 collagen type XVII alpha 1 chain ISO ClinVar Annotator: match by term: Junctional epidermolysis bullosa, non-Herlitz type
ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA JUNCTIONALIS, NON-HERLITZ TYPE
ClinVar Annotator: match by term: Epidermolysis bullosa, junctional, localisata variant
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:226650
ClinVar Annotator: match by synonym: Epidermolysis bullosa, junctional, localisata variant
OMIM
ClinVar
CTD
PMID:7092249 PMID:7550320 PMID:9012408 PMID:9077475 PMID:9199555 PMID:9204958 PMID:9457913 PMID:9457914 PMID:9583744 PMID:9740252 PMID:10398261 PMID:10577906 PMID:10636730 PMID:10951237 PMID:11406649 PMID:12813757 PMID:14614394 PMID:16354180 PMID:16473856 PMID:19340010 PMID:21357940 PMID:24033266 PMID:24550734 PMID:24668667 PMID:24814191 PMID:25741868 PMID:25803036 PMID:28492532 NCBI chr 1:267,416,681...267,465,049
Ensembl chr 1:267,417,459...267,463,705
JBrowse link
G Itgb4 integrin subunit beta 4 ISO ClinVar Annotator: match by OMIM:226650 OMIM
ClinVar
PMID:10792571 NCBI chr10:104,524,000...104,560,180
Ensembl chr10:104,523,996...104,561,078
JBrowse link
G Lama3 laminin subunit alpha 3 ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA JUNCTIONALIS, NON-HERLITZ TYPE
ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE
ClinVar Annotator: match by OMIM:226650
OMIM
ClinVar
PMID:11810295 PMID:16473856 PMID:25525159 PMID:25741868 PMID:28492532 NCBI chr18:3,704,866...3,941,215
Ensembl chr18:3,705,916...3,940,838
JBrowse link
G Lamb3 laminin subunit beta 3 ISO ClinVar Annotator: match by term: Junctional epidermolysis bullosa, non-Herlitz type
ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA JUNCTIONALIS, NON-HERLITZ TYPE
ClinVar Annotator: match by OMIM:226650
OMIM
ClinVar
PMID:7698759 PMID:7706760 PMID:8824879 PMID:8983017 PMID:9038345 PMID:9205497 PMID:9242513 PMID:9501007 PMID:9690563 PMID:9767254 PMID:9856855 PMID:10577906 PMID:11023379 PMID:11298117 PMID:11451332 PMID:11689492 PMID:12813757 PMID:15311214 PMID:15538630 PMID:15663509 PMID:16439963 PMID:16473856 PMID:17115047 PMID:17476356 PMID:21801158 PMID:22931927 PMID:23278291 PMID:24617447 PMID:25708563 PMID:25741868 PMID:27062385 PMID:27375110 PMID:28492532 PMID:28830826 PMID:30544381 NCBI chr13:112,031,614...112,073,187
Ensembl chr13:112,031,594...112,073,186
JBrowse link
G Lamc2 laminin subunit gamma 2 ISO ClinVar Annotator: match by term: Junctional epidermolysis bullosa, non-Herlitz type
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:226650
OMIM
ClinVar
CTD
PMID:11564184 PMID:11810295 PMID:11907499 PMID:15538630 PMID:16473856 PMID:24550734 PMID:28492532 PMID:28830826 NCBI chr13:70,566,643...70,632,126
Ensembl chr13:70,566,643...70,626,252
JBrowse link
junctional epidermolysis bullosa with pyloric atresia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Galk1 galactokinase 1 ISO ClinVar Annotator: match by term: Epidermolysis bullosa with pyloric atresia
ClinVar Annotator: match by term: Epidermolysis bullosa junctionalis with pyloric atresia
ClinVar PMID:9792864 PMID:9892956 PMID:10484780 PMID:11328943 PMID:11886501 PMID:12485428 PMID:18955862 PMID:20301304 PMID:23496044 PMID:25741868 PMID:28492532 NCBI chr10:104,560,322...104,564,499
Ensembl chr10:104,560,303...104,564,480
JBrowse link
G Itga6 integrin subunit alpha 6 ISO ClinVar Annotator: match by term: Epidermolysis bullosa with pyloric atresia
ClinVar Annotator: match by term: Epidermolysis bullosa junctionalis with pyloric atresia
ClinVar Annotator: match by OMIM:226730
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:9185503 PMID:25741868 PMID:28492532 NCBI chr 3:58,442,904...58,515,124
Ensembl chr 3:58,443,101...58,515,124
JBrowse link
G Itgb4 integrin subunit beta 4 ISO ClinVar Annotator: match by term: Epidermolysis bullosa junctionalis with pyloric atresia
ClinVar Annotator: match by term: Epidermolysis bullosa with pyloric atresia
ClinVar Annotator: match by OMIM:226730
ClinVar Annotator: match by term: Epidermolysis bullosa, junctional, with pyloric atresia and aplasia cutis congenita
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by null
OMIM
ClinVar
CTD
PMID:6177243 PMID:7545057 PMID:9546354 PMID:9674902 PMID:9792864 PMID:9892956 PMID:10484780 PMID:11251584 PMID:11328943 PMID:11886501 PMID:12485428 PMID:18348258 PMID:18955862 PMID:20301304 PMID:20301336 PMID:23013259 PMID:23496044 PMID:24033266 PMID:25741868 PMID:26739954 PMID:28492532 NCBI chr10:104,524,000...104,560,180
Ensembl chr10:104,523,996...104,561,078
JBrowse link
G Plec plectin ISO ClinVar Annotator: match by OMIM:226730
ClinVar Annotator: match by term: Epidermolysis Bullosa with Pyloric Atresia
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:11851880 PMID:15810881 PMID:25741868 PMID:28492532 NCBI chr 7:117,230,319...117,291,859
Ensembl chr 7:117,230,319...117,289,961
JBrowse link
Kindler syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fermt1 FERM domain containing kindlin 1 ISO ClinVar Annotator: match by term: Kindler's syndrome ClinVar
OMIM
PMID:12668616 PMID:12789646 PMID:14507403 PMID:14962093 PMID:15313809 PMID:16675959 PMID:17460733 PMID:18528435 PMID:19292718 PMID:19762715 PMID:21336475 PMID:21936020 PMID:22220914 PMID:24635075 PMID:24635080 PMID:25156791 PMID:25437880 PMID:25599393 PMID:25741868 PMID:28443301 PMID:28492532 PMID:29130490 NCBI chr 3:125,566,744...125,607,864
Ensembl chr 3:125,566,643...125,607,735
JBrowse link
Nephropathy with Pretibial Epidermolysis Bullosa and Deafness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd151 CD151 molecule (Raph blood group) ISO ClinVar Annotator: match by term: Nephropathy with pretibial epidermolysis bullosa and deafness
ClinVar Annotator: match by OMIM:609057
OMIM
ClinVar
PMID:15265795 PMID:25741868 NCBI chr 1:214,446,659...214,450,668
Ensembl chr 1:214,009,784...214,013,765
Ensembl chr 1:214,009,784...214,013,765
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Pretibial Epidermolysis Bullosa term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col7a1 collagen type VII alpha 1 chain ISO ClinVar Annotator: match by term: Epidermolysis bullosa, pretibial, autosomal recessive
ClinVar Annotator: match by term: DYSTROPHIC EPIDERMOLYSIS BULLOSA, PRETIBIAL
ClinVar Annotator: match by term: Pretibial epidermolysis bullosa
ClinVar Annotator: match by OMIM:131850
OMIM
ClinVar
PMID:7861014 PMID:8541842 PMID:8755915 PMID:9215684 PMID:9892921 PMID:10408773 PMID:10583163 PMID:11781296 PMID:12485454 PMID:12787275 PMID:15888141 PMID:16971478 PMID:19681861 PMID:20598510 PMID:22266148 PMID:24033266 PMID:24794830 PMID:25741868 PMID:28492532 PMID:28830826 NCBI chr 8:117,694,441...117,726,844
Ensembl chr 8:117,694,605...117,726,844
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recessive dystrophic epidermolysis bullosa term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col7a1 collagen type VII alpha 1 chain ISO
ISS
ClinVar Annotator: match by term: Epidermolysis bullosa dystrophica inversa, autosomal recessive
ClinVar Annotator: match by term: Recessive dystrophic epidermolysis bullosa
ClinVar Annotator: match by term: RDEB, severe generalized
OMIM:226600
ClinVar
MouseDO
PMID:2653224 PMID:7577595 PMID:7695699 PMID:7833933 PMID:7861014 PMID:7883979 PMID:8037207 PMID:8088783 PMID:8218237 PMID:8513326 PMID:8644729 PMID:8644730 PMID:8755915 PMID:8900535 PMID:9215684 PMID:9242516 PMID:9326325 PMID:9347800 PMID:9668111 PMID:9740253 PMID:9804332 PMID:9856844 PMID:9881948 PMID:9892921 PMID:10084325 PMID:10408773 PMID:10469344 PMID:10504458 PMID:10583163 PMID:10836608 PMID:10944088 PMID:11000732 PMID:11167698 PMID:11781296 PMID:11843659 PMID:11874498 PMID:12485454 PMID:12653705 PMID:12735646 PMID:12787275 PMID:12813757 PMID:15816848 PMID:15888141 PMID:16189623 PMID:16271705 PMID:16439963 PMID:16484981 PMID:16965329 PMID:16971478 PMID:17425959 PMID:17495952 PMID:17501948 PMID:17916216 PMID:18030675 PMID:18414213 PMID:18558993 PMID:18951764 PMID:19344236 PMID:19439919 PMID:19643583 PMID:19665875 PMID:19681861 PMID:20184583 PMID:20357813 PMID:20598510 PMID:20920254 PMID:21448560 PMID:21471992 PMID:22058051 PMID:22266148 PMID:23237810 PMID:23786535 PMID:23947675 PMID:24032424 PMID:24033266 PMID:24252097 PMID:24317394 PMID:24794830 PMID:24947307 PMID:25155989 PMID:25525159 PMID:25741868 PMID:26076072 PMID:26102279 PMID:26143532 PMID:26148662 PMID:26763448 PMID:27153395 PMID:27544590 PMID:27746867 PMID:27899325 PMID:28492532 PMID:28830826 PMID:29531004 PMID:32860008 NCBI chr 8:117,694,441...117,726,844
Ensembl chr 8:117,694,605...117,726,844
JBrowse link
G Grip1 glutamate receptor interacting protein 1 ISS OMIM:226600 MouseDO NCBI chr 7:64,672,723...64,854,939
Ensembl chr 7:64,672,722...64,864,404
JBrowse link
G Mir711 microRNA 711 ISO ClinVar Annotator: match by term: Epidermolysis bullosa dystrophica inversa, autosomal recessive ClinVar PMID:28492532 NCBI chr 8:117,711,567...117,711,634
Ensembl chr 8:117,711,567...117,711,634
JBrowse link
G Mmp1 matrix metallopeptidase 1 ISS OMIM:226600 MouseDO NCBI chr 8:5,703,206...5,723,593
Ensembl chr 8:5,703,206...5,723,591
JBrowse link
transient bullous dermolysis of the newborn term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col7a1 collagen type VII alpha 1 chain ISO ClinVar Annotator: match by term: Epidermolysis bullosa dystrophica, dominant neonatal form
ClinVar Annotator: match by term: Transient bullous dermolysis of the newborn
ClinVar Annotator: match by null
ClinVar Annotator: match by OMIM:131705
OMIM
ClinVar
PMID:8345225 PMID:8755915 PMID:9406826 PMID:9856844 PMID:10408773 PMID:10504458 PMID:11781296 PMID:12485454 PMID:12787275 PMID:15888141 PMID:16225626 PMID:16971478 PMID:17434045 PMID:19681861 PMID:20598510 PMID:22266148 PMID:23786535 PMID:24033266 PMID:24317394 PMID:25741868 PMID:28492532 NCBI chr 8:117,694,441...117,726,844
Ensembl chr 8:117,694,605...117,726,844
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16937
    sensory system disease 5336
      skin disease 2747
        Genetic Skin Diseases 915
          epidermolysis bullosa 58
            Bullous Dystrophy, Hereditary Macular Type 0
            Epidermolysis Bullosa with Deficiency of Galactosylhydroxylysyl Glucosyltransferase 0
            Epidermolysis Bullosa with Diaphragmatic Hernia 0
            Epidermolysis Bullosa, Lethal Acantholytic 1
            Epidermolysis Bullosa, Nonspecific, Autosomal Recessive 1
            Interstitial Lung Disease, Nephrotic Syndrome, and Epidermolysis Bullosa, Congenital 1
            Kindler syndrome 1
            Nephropathy with Pretibial Epidermolysis Bullosa and Deafness 1
            epidermolysis bullosa acquisita 0
            epidermolysis bullosa dystrophica + 5
            epidermolysis bullosa simplex + 43
            junctional epidermolysis bullosa + 8
Path 2
Term Annotations click to browse term
  disease 16937
    disease of anatomical entity 16303
      nervous system disease 11877
        sensory system disease 5336
          skin disease 2747
            dermatitis 420
              bullous skin disease 118
                vesiculobullous skin disease 105
                  epidermolysis bullosa 58
                    Bullous Dystrophy, Hereditary Macular Type 0
                    Epidermolysis Bullosa with Deficiency of Galactosylhydroxylysyl Glucosyltransferase 0
                    Epidermolysis Bullosa with Diaphragmatic Hernia 0
                    Epidermolysis Bullosa, Lethal Acantholytic 1
                    Epidermolysis Bullosa, Nonspecific, Autosomal Recessive 1
                    Interstitial Lung Disease, Nephrotic Syndrome, and Epidermolysis Bullosa, Congenital 1
                    Kindler syndrome 1
                    Nephropathy with Pretibial Epidermolysis Bullosa and Deafness 1
                    epidermolysis bullosa acquisita 0
                    epidermolysis bullosa dystrophica + 5
                    epidermolysis bullosa simplex + 43
                    junctional epidermolysis bullosa + 8
paths to the root