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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:vesiculobullous skin disease
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Accession:DOID:2731 term browser browse the term
Definition:A bullous skin disease that is characterized by fluid filled blisters. (DO)
Synonyms:exact_synonym: Vesicular Skin Disease;   Vesicular Skin Diseases;   Vesiculobullous Dermatoses;   vesiculobullous skin diseases
 primary_id: MESH:D012872
 xref: EFO:1000774
For additional species annotation, visit the Alliance of Genome Resources.



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vesiculobullous skin disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fermt1 FERM domain containing kindlin 1 ISO Kindler syndrome, OMIM:173650 RGD PMID:12668616 RGD:1600405 NCBI chr 3:120,171,301...120,213,555 JBrowse link
atrichia with papular lesions term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hr HR, lysine demethylase and nuclear receptor corepressor ISO
ISS
OMIM:209500
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Atrichia with papular lesions | ClinVar Annotator: match by term: Papular Atrichia
OMIM
MouseDO
CTD
ClinVar
PMID:8790387 PMID:9445480 PMID:9736769 PMID:9758627 PMID:9856480 More... NCBI chr15:45,626,835...45,646,313 JBrowse link
G Hrurf HR upstream open reading frame ISO ClinVar Annotator: match by term: Atrichia with papular lesions ClinVar PMID:25741868
G Odc1 ornithine decarboxylase 1 ISS OMIM:209500 MouseDO NCBI chr 6:46,058,439...46,065,148 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
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:1680286 PMID:2425097 PMID:5910871 PMID:7577595 PMID:7695699 More... NCBI chr 8:109,604,877...109,637,249 JBrowse link
G Itgb4 integrin subunit beta 4 ISO ClinVar Annotator: match by term: Cockayne-Touraine type epidermolysis bullosa ClinVar PMID:25741868 PMID:28492532 NCBI chr10:101,705,592...101,741,933 JBrowse link
G Krt14 keratin 14 ISO ClinVar Annotator: match by term: Cockayne-Touraine type epidermolysis bullosa ClinVar PMID:25741868 PMID:28492532 NCBI chr10:85,137,786...85,142,054 JBrowse link
G Krt5 keratin 5 ISO ClinVar Annotator: match by term: Cockayne-Touraine type epidermolysis bullosa ClinVar PMID:7520042 PMID:7537780 PMID:7688477 PMID:8807337 PMID:9036937 More... NCBI chr 7:132,846,132...132,851,861 JBrowse link
Blister term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adam17 ADAM metallopeptidase domain 17 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19167455 NCBI chr 6:40,872,936...40,920,700 JBrowse link
G Anxa1 annexin A1 ISO associated with Hypersensitivity, Delayed;protein:increased expression:mononuclear cell RGD PMID:10331485 RGD:7421575 NCBI chr 1:227,287,713...227,306,739 JBrowse link
BLISTERING, ACANTHOLYTIC, OF ORAL AND LARYNGEAL MUCOSA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dsg3 desmoglein 3 ISO ClinVar Annotator: match by term: Blistering, acantholytic, of oral and laryngeal mucosa OMIM
ClinVar
PMID:25741868 PMID:30528827 NCBI chr18:11,799,355...11,830,988 JBrowse link
dermatitis herpetiformis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eln elastin ISO RGD PMID:8256113 RGD:9585750 NCBI chr12:27,604,983...27,648,413 JBrowse link
G Lta lymphotoxin alpha ISO DNA:polymorphism RGD PMID:7914110 RGD:8548777 NCBI chr20:3,622,291...3,625,852 JBrowse link
G Tnf tumor necrosis factor ISO DNA:polymorphism:promoter RGD PMID:7914110 RGD:8548777 NCBI chr20:3,626,685...3,629,303 JBrowse link
G Vegfa vascular endothelial growth factor A ISO mRNA:increased expression: : RGD PMID:7738351 RGD:7421578 NCBI chr 9:22,452,854...22,468,194 JBrowse link
Eosinophilic Pustular Folliculitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccl26 C-C motif chemokine ligand 26 ISO protein:increased expression:skin, sebocyte (human) RGD PMID:22206772 RGD:11081159 NCBI chr12:26,745,972...26,750,924 JBrowse link
epidermolysis bullosa term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col7a1 collagen type VII alpha 1 chain ISO ClinVar Annotator: match by term: Epidermolysis bullosa ClinVar PMID:10504458 PMID:16971478 PMID:25741868 PMID:28492532 NCBI chr 8:109,604,877...109,637,249 JBrowse link
G Exph5 exophilin 5 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:53,698,825...53,775,371 JBrowse link
G Itga6 integrin subunit alpha 6 ISO ClinVar Annotator: match by term: Epidermolysis bullosa ClinVar PMID:14675179 PMID:25741868 NCBI chr 3:56,604,512...56,689,428 JBrowse link
G Itgb4 integrin subunit beta 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18348258 NCBI chr10:101,705,592...101,741,933 JBrowse link
G Krt5 keratin 5 ISO ClinVar Annotator: match by term: Epidermolysis bullosa ClinVar PMID:25741868 NCBI chr 7:132,846,132...132,851,861 JBrowse link
G Lamb3 laminin subunit beta 3 ISO ClinVar Annotator: match by term: Epidermolysis bullosa ClinVar PMID:25741868 NCBI chr13:104,833,810...104,875,405 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, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Epidermolysis bullosa dystrophica | ClinVar Annotator: match by term: Hallopeau-Siemens Disease | ClinVar Annotator: match by term: epidermolysis bullosa dystrophica, autosomal recessive
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
RGD
PMID:2425097 PMID:5910871 PMID:7577595 PMID:7695699 PMID:7833933 More... RGD:1600946 NCBI chr 8:109,604,877...109,637,249 JBrowse link
G Igfbp3 insulin-like growth factor binding protein 3 ISO mRNA,protein:decreased expression:skin: RGD PMID:15140235 RGD:12743601 NCBI chr14:86,270,208...86,277,944 JBrowse link
G Mir711 microRNA 711 ISO ClinVar Annotator: match by term: Epidermolysis bullosa dystrophica ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:109,621,975...109,622,042 JBrowse link
G Mmp1 matrix metallopeptidase 1 severity ISO DNA:insertion:promoter:g.-1607_-1606insG (human)
ClinVar Annotator: match by term: Hallopeau-Siemens Disease
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:25741868 PMID:28492532 PMID:18030675 RGD:8549728 NCBI chr 8:12,943,453...12,963,966 JBrowse link
Epidermolysis Bullosa Dystrophica, Autosomal Recessive, Localisata Variant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col7a1 collagen type VII alpha 1 chain ISO ClinVar Annotator: match by term: Epidermolysis bullosa dystrophica, autosomal recessive, localisata variant ClinVar PMID:7695699 PMID:8218237 PMID:8755915 PMID:9536098 PMID:9804332 More... NCBI chr 8:109,604,877...109,637,249 JBrowse link
Epidermolysis Bullosa Pruriginosa term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col7a1 collagen type VII alpha 1 chain ISO ClinVar Annotator: match by term: DYSTROPHIC EPIDERMOLYSIS BULLOSA PRURIGINOSA | ClinVar Annotator: match by term: Epidermolysis bullosa pruriginosa | ClinVar Annotator: match by term: Epidermolysis bullosa pruriginosa, autosomal dominant | ClinVar Annotator: match by term: Epidermolysis bullosa pruriginosa, autosomal recessive
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:7695699 PMID:7833933 PMID:8088783 PMID:8218237 PMID:8644730 More... NCBI chr 8:109,604,877...109,637,249 JBrowse link
epidermolysis bullosa simplex term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Itgb4 integrin subunit beta 4 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Cockayne-Touraine type ClinVar PMID:25741868 PMID:28492532 NCBI chr10:101,705,592...101,741,933 JBrowse link
G Krt14 keratin 14 susceptibility ISO
ISS
DNA:point mutations
ClinVar Annotator: match by term: Epidermolysis bullosa simplex | ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Cockayne-Touraine type | ClinVar Annotator: match by term: Epidermolysis bullosa simplex, autosomal recessive
OMIM:601001 | OMIM:615425
CTD Direct Evidence: marker/mechanism
ClinVar
MouseDO
CTD
RGD
PMID:1717157 PMID:7682883 PMID:8601736 PMID:10583131 PMID:10733662 More... RGD:1600173 NCBI chr10:85,137,786...85,142,054 JBrowse link
G Krt5 keratin 5 susceptibility ISO DNA:mutation
ClinVar Annotator: match by term: Epidermolysis bullosa simplex | ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Cockayne-Touraine type
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:421361 PMID:1049409 PMID:1718160 PMID:2476664 PMID:6457621 More... RGD:1600195 NCBI chr 7:132,846,132...132,851,861 JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO RGD PMID:23894602 RGD:13204851 NCBI chr 3:174,103,474...174,111,434 JBrowse link
G Plec plectin ISO DNA:deletions: ; 2719de19, 5866delC; associated with muscular dystrophies
ClinVar Annotator: match by term: Epidermolysis bullosa simplex
ClinVar
RGD
PMID:11851880 PMID:23289980 PMID:25741868 PMID:28492532 PMID:8894687 RGD:1599911 NCBI chr 7:109,768,447...109,829,798 JBrowse link
Epidermolysis Bullosa Simplex 2E with Migratory Circinate Erythema term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt5 keratin 5 ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX 2E, WITH MIGRATORY CIRCINATE ERYTHEMA | ClinVar Annotator: match by term: Epidermolysis bullosa simplex with migratory circinate erythema
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:7520042 PMID:8807337 PMID:9036937 PMID:12925204 PMID:15324323 More... NCBI chr 7:132,846,132...132,851,861 JBrowse link
Epidermolysis Bullosa Simplex 3, Localized or Generalized Intermediate, with BP230 Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dst dystonin ISO ClinVar Annotator: match by term: DST-related condition | ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX 3, LOCALIZED OR GENERALIZED INTERMEDIATE, WITH BP230 DEFICIENCY | ClinVar Annotator: match by term: Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency | ClinVar Annotator: match by term: Epidermolysis bullosa simplex, autosomal recessive 2 OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:20164846 PMID:22113475 PMID:22522446 More... NCBI chr 9:36,135,657...36,529,617 JBrowse link
Epidermolysis Bullosa Simplex 4, Localized or Generalized Intermediate, Autosomal Recessive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Exph5 exophilin 5 ISO ClinVar Annotator: match by term: EXPH5-related condition | ClinVar Annotator: match by term: Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive OMIM
ClinVar
PMID:23176819 PMID:24005056 PMID:24443915 PMID:25741868 PMID:26211931 More... NCBI chr 8:53,698,825...53,775,371 JBrowse link
Epidermolysis Bullosa Simplex 5C with Pyloric Atresia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Plec plectin ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX 5C, WITH PYLORIC ATRESIA | ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5C, with pyloric atresia | ClinVar Annotator: match by term: Epidermolysis bullosa simplex with pyloric atresia
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9536098 PMID:11851880 PMID:14675180 PMID:15206692 PMID:15654962 More... NCBI chr 7:109,768,447...109,829,798 JBrowse link
Epidermolysis Bullosa Simplex 5D with Nail Dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arhgap10 Rho GTPase activating protein 10 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy ClinVar PMID:25741868 NCBI chr19:47,352,783...47,614,532 JBrowse link
G Bclaf1 BCL2-associated transcription factor 1 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy ClinVar NCBI chr 1:16,904,572...16,937,106 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 chr16:76,254,433...76,281,139 JBrowse link
G Frem2 FRAS1 related extracellular matrix 2 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy ClinVar PMID:28492532 NCBI chr 2:137,602,784...137,740,785 JBrowse link
G Gpr33-ps1 G protein-coupled receptor 33, pseudogene 1 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy ClinVar NCBI chr 6:69,474,435...69,475,440 JBrowse link
G Hrnr hornerin ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy ClinVar PMID:25741868
G Ids iduronate 2-sulfatase ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy ClinVar NCBI chr  X:149,025,976...149,046,641 JBrowse link
G Plec plectin ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy OMIM
ClinVar
PMID:9536098 PMID:11851880 PMID:15206692 PMID:15659326 PMID:15810881 More... NCBI chr 7:109,768,447...109,829,798 JBrowse link
G Rp1l1 RP1 like 1 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy ClinVar NCBI chr15:38,259,907...38,271,269 JBrowse link
G Tmem249 transmembrane protein 249 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy ClinVar NCBI chr 7:108,256,535...108,259,429 JBrowse link
Epidermolysis Bullosa Simplex 7, with Nephropathy and Deafness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd151 CD151 molecule (Raph blood group) ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CD151-related condition | ClinVar Annotator: match by term: Epidermolysis bullosa simplex 7, with nephropathy and deafness
OMIM
CTD
ClinVar
PMID:15265795 PMID:25741868 PMID:25741871 PMID:28492532 NCBI chr 1:205,994,300...205,998,307 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
ISO
OMIM:131760
ClinVar Annotator: match by term: Epidermolysis bullosa simplex Dowling-Meara type
MouseDO
ClinVar
PMID:1717157 PMID:9804355 PMID:10583131 PMID:10730767 PMID:10733662 More... NCBI chr10:85,137,786...85,142,054 JBrowse link
G Krt5 keratin 5 ISS
ISO
OMIM:131760
ClinVar Annotator: match by term: Epidermolysis bullosa herpetiformis, Dowling-Meara | ClinVar Annotator: match by term: Epidermolysis bullosa simplex Dowling-Meara type
MouseDO
ClinVar
PMID:7520042 PMID:8807337 PMID:9036937 PMID:16098032 PMID:16601668 More... NCBI chr 7:132,846,132...132,851,861 JBrowse link
epidermolysis bullosa simplex generalized type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Klhl24 kelch-like family member 24 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Koebner type | ClinVar Annotator: match by term: Generalized EBS ClinVar PMID:25741868 PMID:27798626 PMID:27889062 PMID:28492532 PMID:29779254 More... NCBI chr11:80,843,621...80,877,649 JBrowse link
G Krt14 keratin 14 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Koebner type | ClinVar Annotator: match by term: Generalized EBS ClinVar PMID:1703046 PMID:1717157 PMID:1720261 PMID:2365356 PMID:7682883 More... NCBI chr10:85,137,786...85,142,054 JBrowse link
G Krt5 keratin 5 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Koebner type | ClinVar Annotator: match by term: Generalized EBS ClinVar PMID:7520042 PMID:8807337 PMID:20199538 PMID:25741868 NCBI chr 7:132,846,132...132,851,861 JBrowse link
epidermolysis bullosa simplex localized type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Itgb4 integrin subunit beta 4 ISO ClinVar Annotator: match by term: Localized epidermolysis bullosa simplex ClinVar PMID:25741868 PMID:28492532 NCBI chr10:101,705,592...101,741,933 JBrowse link
G Krt14 keratin 14 ISO ClinVar Annotator: match by term: Localized epidermolysis bullosa simplex ClinVar PMID:25741868 PMID:28492532 NCBI chr10:85,137,786...85,142,054 JBrowse link
G Krt5 keratin 5 ISO ClinVar Annotator: match by term: Epidermolysis Bullosa Simplex, Weber-Cockayne Type | ClinVar Annotator: match by term: Localized epidermolysis bullosa simplex ClinVar PMID:7520042 PMID:7537780 PMID:7688477 PMID:8807337 PMID:9036937 More... NCBI chr 7:132,846,132...132,851,861 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
ISS
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 7:109,768,447...109,829,798 JBrowse link
epidermolysis bullosa simplex with mottled pigmentation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt5 keratin 5 ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX 2F, WITH MOTTLED PIGMENTATION | ClinVar Annotator: match by term: Epidermolysis bullosa simplex with mottled pigmentation | ClinVar Annotator: match by term: Speckled hyperpigmentation, palmo-plantar punctate keratoses and childhood blistering
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:421361 PMID:1049409 PMID:2476664 PMID:6457621 PMID:7520042 More... NCBI chr 7:132,846,132...132,851,861 JBrowse link
epidermolysis bullosa simplex with muscular dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adck5 aarF domain containing kinase 5 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:108,301,623...108,319,439 JBrowse link
G Bop1 BOP1 ribosomal biogenesis factor ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:108,172,062...108,195,875 JBrowse link
G Ccdc166 coiled-coil domain containing 166 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:107,693,572...107,695,375 JBrowse link
G Cpsf1 cleavage and polyadenylation specific factor 1 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:110,200,078...110,210,644 JBrowse link
G Cyc1 cytochrome c-1 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:109,947,750...109,950,142 JBrowse link
G Cyp11b2 cytochrome P450, family 11, subfamily b, polypeptide 2 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:28492532 NCBI chr 7:108,719,349...108,726,024 JBrowse link
G Cyp11b3 cytochrome P450, family 11, subfamily b, polypeptide 3 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:28492532 NCBI chr 7:106,808,559...106,814,048 JBrowse link
G Dgat1 diacylglycerol O-acyltransferase 1 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:110,104,514...110,119,091 JBrowse link
G Eef1d eukaryotic translation elongation factor 1 delta ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:109,462,645...109,478,021 JBrowse link
G Eppk1 epiplakin 1 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:107,816,919...107,842,946 JBrowse link
G Exosc4 exosome component 4 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:109,928,491...109,931,233 JBrowse link
G Fam83h family with sequence similarity 83, member H ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:107,716,431...107,724,619 JBrowse link
G Fbxl6 F-box and leucine-rich repeat protein 6 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:108,259,097...108,262,528 JBrowse link
G Foxh1 forkhead box H1 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:108,387,969...108,391,566 JBrowse link
G Gfus GDP-L-fucose synthase ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:107,612,087...107,617,005 JBrowse link
G Gli4 GLI family zinc finger 4 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:107,325,584...107,330,911 JBrowse link
G Gml glycosylphosphatidylinositol anchored molecule like ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:28492532 NCBI chr 7:106,683,749...106,712,802 JBrowse link
G Gpaa1 glycosylphosphatidylinositol anchor attachment 1 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:109,932,556...109,936,139 JBrowse link
G Gpihbp1 glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:107,285,584...107,288,702 JBrowse link
G Gpt glutamic--pyruvic transaminase ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:28492532 NCBI chr 7:110,295,599...110,300,134 JBrowse link
G Grina glutamate ionotropic receptor NMDA type subunit associated protein 1 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:107,962,194...107,965,372 JBrowse link
G Gsdmd gasdermin D ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:109,423,209...109,427,771 JBrowse link
G Hgh1 HGH1 homolog ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:108,091,918...108,094,740 JBrowse link
G Hsf1 heat shock transcription factor 1 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:110,076,710...110,103,665 JBrowse link
G Kifc2 kinesin family member C2 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:108,380,634...108,388,364 JBrowse link
G Ly6d lymphocyte antigen 6 family member D ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:28492532 NCBI chr 7:108,532,207...108,533,943 JBrowse link
G Ly6e lymphocyte antigen 6 family member E ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:28492532 NCBI chr 7:106,935,530...106,939,689 JBrowse link
G Ly6h lymphocyte antigen 6 family member H ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:28492532 NCBI chr 7:107,258,779...107,261,270 JBrowse link
G Lynx1 Ly6/neurotoxin 1 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:28492532 NCBI chr 7:106,632,800...106,638,003 JBrowse link
G Lypd2 Ly6/Plaur domain containing 2 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:28492532 NCBI chr 7:106,617,561...106,619,598 JBrowse link
G Maf1 MAF1 homolog, negative regulator of RNA polymerase III ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:108,075,173...108,078,252 JBrowse link
G Mafa MAF bZIP transcription factor A ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:109,313,021...109,315,813 JBrowse link
G Mapk15 mitogen-activated protein kinase 15 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:109,575,619...109,595,339 JBrowse link
G Mfsd3 major facilitator superfamily domain containing 3 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:28492532 NCBI chr 7:108,419,644...108,423,469 JBrowse link
G Mroh1 maestro heat-like repeat family member 1 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:108,098,708...108,172,146 JBrowse link
G Mroh6 maestro heat-like repeat family member 6 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:107,566,212...107,576,469 JBrowse link
G Naprt nicotinate phosphoribosyltransferase ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:107,576,645...107,580,102 JBrowse link
G Nrbp2 nuclear receptor binding protein 2 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:109,679,330...109,685,656 JBrowse link
G Oplah 5-oxoprolinase (ATP-hydrolysing) ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:108,011,472...108,051,751 JBrowse link
G Parp10 poly (ADP-ribose) polymerase family, member 10 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:107,949,031...107,958,377 JBrowse link
G Plec plectin ISO
ISS
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
OMIM
ClinVar
MouseDO
CTD
PMID:8696340 PMID:8830774 PMID:8894687 PMID:9536098 PMID:9886273 More... NCBI chr 7:109,768,447...109,829,798 JBrowse link
G Ppp1r16a protein phosphatase 1, regulatory subunit 16A ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:28492532 NCBI chr 7:108,391,664...108,414,812 JBrowse link
G Puf60 poly-U binding splicing factor 60 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:109,663,490...109,674,443 JBrowse link
G Pycr3 pyrroline-5-carboxylate reductase 3 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:109,484,263...109,489,554 JBrowse link
G Recql4 RecQ like helicase 4 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:28492532 NCBI chr 7:110,304,092...110,311,426 JBrowse link
G Rhpn1 rhophilin, Rho GTPase binding protein 1 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:107,391,948...107,402,713 JBrowse link
G Scrib scribble planar cell polarity protein ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:107,759,343...107,782,364 JBrowse link
G Scrt1 scratch family transcriptional repressor 1 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:108,240,986...108,244,636 JBrowse link
G Scx scleraxis bHLH transcription factor ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:108,176,608...108,178,626 JBrowse link
G Sharpin SHANK-associated RH domain interactor ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:109,951,336...109,955,552 JBrowse link
G Slc39a4 solute carrier family 39 member 4 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:110,214,017...110,218,202 JBrowse link
G Slc52a2 solute carrier family 52 member 2 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:108,246,003...108,267,642 JBrowse link
G Slurp1 secreted Ly6/Plaur domain containing 1 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:28492532 NCBI chr 7:106,611,949...106,613,365 JBrowse link
G Spatc1 spermatogenesis and centriole associated 1 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:107,980,857...108,007,716 JBrowse link
G Tigd5 tigger transposable element derived 5 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:107,596,724...107,599,243 JBrowse link
G Tmem249 transmembrane protein 249 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:108,256,535...108,259,429 JBrowse link
G Tonsl tonsoku-like, DNA repair protein ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:108,345,704...108,360,792 JBrowse link
G Top1mt DNA topoisomerase I mitochondrial ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:107,338,092...107,368,125 JBrowse link
G Vps28 VPS28 subunit of ESCRT-I ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:108,341,989...108,345,837 JBrowse link
G Zc3h3 zinc finger CCCH type containing 3 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:109,321,423...109,406,241 JBrowse link
G Zfp41 zinc finger protein 41 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:107,307,303...107,320,164 JBrowse link
G Zfp623 zinc finger protein 623 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:107,627,334...107,636,254 JBrowse link
G Zfp707 zinc finger protein 707 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:107,679,597...107,686,556 JBrowse link
G Zftraf1 zinc finger TRAF type containing 1 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:108,363,989...108,377,428 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
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:2425097 PMID:5910871 PMID:7695699 PMID:7833933 PMID:8088783 More... NCBI chr 8:109,604,877...109,637,249 JBrowse link
Epidermolysis Bullosa, Lethal Acantholytic term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dsp desmoplakin ISO ClinVar Annotator: match by term: Lethal acantholytic epidermolysis bullosa
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:2450378 PMID:3198322 PMID:9536098 PMID:10395892 PMID:12101406 More... NCBI chr17:26,623,602...26,671,692 JBrowse link
erythema multiforme term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd40 CD40 molecule ISO RGD PMID:18050371 RGD:8547765 NCBI chr 3:174,209,113...174,224,592 JBrowse link
G Cd40lg CD40 ligand ISO RGD PMID:18050371 RGD:8547765 NCBI chr  X:140,164,341...140,176,057 JBrowse link
G Cd8a CD8 subunit alpha susceptibility ISO associated with adult T-cell leukemia;mRNA:increased expression:blood (human) RGD PMID:32433748 RGD:124715447 NCBI chr 4:104,924,116...104,928,353 JBrowse link
G Masp2 MBL associated serine protease 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12904520 NCBI chr 5:164,319,017...164,332,686 JBrowse link
G RT1-Bb RT1 class II, locus Bb ISO DNA:polymorphisms (human) RGD PMID:9627123 RGD:5147868 NCBI chr20:4,598,475...4,604,118 JBrowse link
G Vegfa vascular endothelial growth factor A ISO mRNA:increased expression: : RGD PMID:7738351 RGD:7421578 NCBI chr 9:22,452,854...22,468,194 JBrowse link
Generalized Epidermolysis Bullosa Simplex 1B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Klhl24 kelch-like family member 24 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Koebner type ClinVar PMID:25741868 PMID:27798626 PMID:27889062 PMID:28492532 PMID:29779254 More... NCBI chr11:80,843,621...80,877,649 JBrowse link
G Krt14 keratin 14 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Koebner type OMIM
ClinVar
PMID:1703046 PMID:1717157 PMID:1720261 PMID:2365356 PMID:7682883 More... NCBI chr10:85,137,786...85,142,054 JBrowse link
G Krt5 keratin 5 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Koebner type ClinVar PMID:7520042 PMID:8807337 PMID:20199538 PMID:25741868 NCBI chr 7:132,846,132...132,851,861 JBrowse link
Generalized Epidermolysis Bullosa Simplex 1D term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dst dystonin ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:36,135,657...36,529,617 JBrowse link
G Krt14 keratin 14 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive
OMIM
CTD
ClinVar
PMID:7525407 PMID:7525408 PMID:7526933 PMID:8875963 PMID:10971341 More... NCBI chr10:85,137,786...85,142,054 JBrowse link
G Krt5 keratin 5 ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX 1D, GENERALIZED, INTERMEDIATE OR SEVERE, AUTOSOMAL RECESSIVE ClinVar PMID:7520042 PMID:8807337 PMID:25741868 NCBI chr 7:132,846,132...132,851,861 JBrowse link
Generalized Epidermolysis Bullosa Simplex 2B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt5 keratin 5 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 2B, generalized intermediate OMIM
ClinVar
PMID:1718160 PMID:7534039 PMID:7686424 PMID:9740251 PMID:10354017 More... NCBI chr 7:132,846,132...132,851,861 JBrowse link
Generalized Epidermolysis Bullosa Simplex 2D term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt5 keratin 5 ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX 2D, GENERALIZED SEVERE, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Epidermolysis bullosa simplex 2d, generalized, intermediate or severe, autosomal recessive OMIM
ClinVar
PMID:16465624 PMID:20199538 PMID:25741868 PMID:31302245 PMID:31312705 NCBI chr 7:132,846,132...132,851,861 JBrowse link
Generalized Epidermolysis Bullosa Simplex 6 with Scarring and Hair Loss term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Klhl24 kelch-like family member 24 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 6, generalized, with scarring and hair loss | ClinVar Annotator: match by term: Epidermolysis bullosa simplex, generalized, with scarring and hair loss OMIM
ClinVar
PMID:25741868 PMID:27798626 PMID:27889062 PMID:28492532 PMID:29779254 More... NCBI chr11:80,843,621...80,877,649 JBrowse link
Generalized Severe Epidermolysis Bullosa Simplex 1A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt14 keratin 14 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 1A, generalized severe OMIM
ClinVar
PMID:1703046 PMID:1717157 PMID:1720261 PMID:9804355 PMID:10583131 More... NCBI chr10:85,137,786...85,142,054 JBrowse link
G Krt5 keratin 5 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 1A, generalized severe ClinVar PMID:7520042 PMID:8807337 PMID:9036937 PMID:10354017 PMID:10730767 More... NCBI chr 7:132,846,132...132,851,861 JBrowse link
Generalized Severe Epidermolysis Bullosa Simplex 2A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt5 keratin 5 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 2A, generalized severe OMIM
ClinVar
PMID:1372711 PMID:8757772 PMID:9036937 PMID:10234505 PMID:10383750 More... NCBI chr 7:132,846,132...132,851,861 JBrowse link
Hypotrichosis and Recurrent Skin Vesicles term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dsc3 desmocollin 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: DSC3-related condition | ClinVar Annotator: match by term: Hypotrichosis and recurrent skin vesicles
OMIM
CTD
ClinVar
PMID:19765682 PMID:25741868 PMID:31790667 NCBI chr18:11,379,759...11,413,797 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
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 chr 1:246,530,589...246,577,559 JBrowse link
G Galk1 galactokinase 1 ISO ClinVar Annotator: match by term: Junctional epidermolysis bullosa ClinVar PMID:9792864 PMID:11886501 NCBI chr10:101,742,067...101,746,244 JBrowse link
G Itga6 integrin subunit alpha 6 ISO epidermolysis bullosa with pyloric atresia, OMIM:226730
ClinVar Annotator: match by term: Junctional epidermolysis bullosa
ClinVar
RGD
PMID:21357940 PMID:25741868 PMID:9185503 RGD:1600016 NCBI chr 3:56,604,512...56,689,428 JBrowse link
G Itgb4 integrin subunit beta 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Junctional epidermolysis bullosa
CTD
ClinVar
PMID:7545057 PMID:9792864 PMID:11886501 NCBI chr10:101,705,592...101,741,933 JBrowse link
G Lama3 laminin subunit alpha 3 ISO
ISS
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 chr18:3,523,168...3,751,722 JBrowse link
G Lamb3 laminin subunit beta 3 susceptibility ISO DNA:nonsense mutation
ClinVar Annotator: match by term: Junctional epidermolysis bullosa
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:7550237 PMID:7698759 PMID:7706760 PMID:8824879 PMID:8983017 More... RGD:1600209 NCBI chr13:104,833,810...104,875,405 JBrowse link
G Lamc2 laminin subunit gamma 2 susceptibility ISO DNA:splice-site mutation, deletion-insertion
ClinVar Annotator: match by term: Junctional epidermolysis bullosa
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:9856849 PMID:11231327 PMID:11810295 PMID:11907499 PMID:15370542 More... RGD:1600210 NCBI chr13:67,835,199...67,894,694 JBrowse link
Junctional Epidermolysis Bullosa 1A, Intermediate term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col17a1 collagen type XVII alpha 1 chain ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 1A, INTERMEDIATE ClinVar PMID:9583744 PMID:10636730 PMID:11406649 PMID:14614394 PMID:16199547 More... NCBI chr 1:246,530,589...246,577,559 JBrowse link
G Lama3 laminin subunit alpha 3 ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 1A, INTERMEDIATE ClinVar PMID:10366601 PMID:11810295 PMID:12915477 PMID:16473856 PMID:17362460 More... NCBI chr18:3,523,168...3,751,722 JBrowse link
G Lamb3 laminin subunit beta 3 ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 1A, INTERMEDIATE OMIM
ClinVar
PMID:7550237 PMID:7698759 PMID:7706760 PMID:8824879 PMID:8983017 More... NCBI chr13:104,833,810...104,875,405 JBrowse link
Junctional Epidermolysis Bullosa 1B, Severe term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lama3 laminin subunit alpha 3 ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 1B, SEVERE ClinVar PMID:9536098 PMID:10366601 PMID:11810295 PMID:12915477 PMID:16473856 More... NCBI chr18:3,523,168...3,751,722 JBrowse link
G Lamb3 laminin subunit beta 3 ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 1B, SEVERE OMIM
ClinVar
PMID:7550237 PMID:7698759 PMID:7706760 PMID:8824879 PMID:8983017 More... NCBI chr13:104,833,810...104,875,405 JBrowse link
G Lamc2 laminin subunit gamma 2 ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 1B, SEVERE ClinVar PMID:11907499 PMID:16199547 PMID:16473856 PMID:25741868 PMID:28492532 NCBI chr13:67,835,199...67,894,694 JBrowse link
Junctional Epidermolysis Bullosa 2A, Intermediate term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lama3 laminin subunit alpha 3 ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 2A, NON-HERLITZ TYPE | ClinVar Annotator: match by term: Epidermolysis bullosa, junctional 2A, intermediate OMIM
ClinVar
PMID:10366601 PMID:11810295 PMID:12915477 PMID:16199547 PMID:16473856 More... NCBI chr18:3,523,168...3,751,722 JBrowse link
Junctional Epidermolysis Bullosa 2B, Severe term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lama3 laminin subunit alpha 3 ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 2B, HERLITZ TYPE | ClinVar Annotator: match by term: Epidermolysis bullosa, junctional 2B, severe OMIM
ClinVar
PMID:7633458 PMID:8530087 PMID:8586427 PMID:8618022 PMID:8824879 More... NCBI chr18:3,523,168...3,751,722 JBrowse link
Junctional Epidermolysis Bullosa 2C, Laryngoonychocutaneous term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lama3 laminin subunit alpha 3 ISO ClinVar Annotator: match by term: Laryngo-onycho-cutaneous syndrome
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:7633458 PMID:8530087 PMID:8618022 PMID:8824879 PMID:8983017 More... NCBI chr18:3,523,168...3,751,722 JBrowse link
Junctional Epidermolysis Bullosa 3A, Intermediate term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lamc2 laminin subunit gamma 2 ISO ClinVar Annotator: match by term: Epidermolysis bullosa, junctional 3A, intermediate | ClinVar Annotator: match by term: LAMC2-related condition OMIM
ClinVar
PMID:11564184 PMID:11810295 PMID:11907499 PMID:15538630 PMID:16199547 More... NCBI chr13:67,835,199...67,894,694 JBrowse link
Junctional Epidermolysis Bullosa 3B, Severe term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lamc2 laminin subunit gamma 2 ISO ClinVar Annotator: match by term: Epidermolysis bullosa, junctional 3B, severe OMIM
ClinVar
PMID:7849725 PMID:8012114 PMID:8012393 PMID:8012394 PMID:8824879 More... NCBI chr13:67,835,199...67,894,694 JBrowse link
Junctional Epidermolysis Bullosa 4, Intermediate term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col17a1 collagen type XVII alpha 1 chain ISO ClinVar Annotator: match by term: COL17A1-related condition | ClinVar Annotator: match by term: Epidermolysis bullosa, junctional 4, intermediate OMIM
ClinVar
PMID:7092249 PMID:7550320 PMID:8618019 PMID:9012408 PMID:9077475 More... NCBI chr 1:246,530,589...246,577,559 JBrowse link
Junctional Epidermolysis Bullosa 5A, Intermediate term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Galk1 galactokinase 1 ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5A, NON-HERLITZ TYPE | ClinVar Annotator: match by term: Epidermolysis bullosa, junctional 5A, intermediate ClinVar PMID:9536098 PMID:9546354 PMID:9892956 PMID:11328943 PMID:12485428 More... NCBI chr10:101,742,067...101,746,244 JBrowse link
G Itgb4 integrin subunit beta 4 ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5A, NON-HERLITZ TYPE | ClinVar Annotator: match by term: Epidermolysis bullosa, junctional 5A, intermediate OMIM
ClinVar
PMID:9536098 PMID:9546354 PMID:9892956 PMID:10792571 PMID:11328943 More... NCBI chr10:101,705,592...101,741,933 JBrowse link
Junctional Epidermolysis Bullosa 7, with Interstitial Lung Disease and Nephrotic Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Itga3 integrin subunit alpha 3 ISO ClinVar Annotator: match by term: Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome | ClinVar Annotator: match by term: ITGA3-related condition | ClinVar Annotator: match by term: Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital OMIM
ClinVar
PMID:16199547 PMID:22512483 PMID:24088041 PMID:25741868 PMID:25810266 More... NCBI chr10:79,990,160...80,022,206 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 3:56,604,512...56,689,428 JBrowse link
G Lama3 laminin subunit alpha 3 ISO ClinVar Annotator: match by term: Herlitz-Pearson type epidermolysis bullosa | ClinVar Annotator: match by term: Herlitz-type junctional epidermolysis bullosa | ClinVar Annotator: match by term: Junctional epidermolysis bullosa gravis of Herlitz ClinVar PMID:7633458 PMID:8530087 PMID:8618022 PMID:8824879 PMID:8983017 More... NCBI chr18:3,523,168...3,751,722 JBrowse link
G Lamb3 laminin subunit beta 3 ISS
ISO
OMIM:226700
ClinVar Annotator: match by term: Herlitz-Pearson type epidermolysis bullosa | ClinVar Annotator: match by term: Herlitz-type junctional epidermolysis bullosa | ClinVar Annotator: match by term: Junctional epidermolysis bullosa gravis of Herlitz
MouseDO
ClinVar
PMID:7550237 PMID:7698759 PMID:7706760 PMID:8362910 PMID:8541876 More... NCBI chr13:104,833,810...104,875,405 JBrowse link
G Lamc2 laminin subunit gamma 2 ISS
ISO
OMIM:226700
ClinVar Annotator: match by term: Herlitz-Pearson type epidermolysis bullosa | ClinVar Annotator: match by term: Herlitz-type junctional epidermolysis bullosa | ClinVar Annotator: match by term: Junctional epidermolysis bullosa gravis of Herlitz
MouseDO
ClinVar
PMID:7849725 PMID:8012114 PMID:8012393 PMID:8012394 PMID:8824879 More... NCBI chr13:67,835,199...67,894,694 JBrowse link
G Slc2a1 solute carrier family 2 member 1 ISO ClinVar Annotator: match by term: Herlitz-type junctional epidermolysis bullosa ClinVar PMID:20129935 PMID:25564316 PMID:25741868 PMID:25982116 PMID:26537434 More... NCBI chr 5:138,002,522...138,030,742 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
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 chr 1:246,530,589...246,577,559 JBrowse link
G Galk1 galactokinase 1 ISO ClinVar Annotator: match by term: Junctional epidermolysis bullosa, non-Herlitz type ClinVar PMID:25741868 PMID:28492532 NCBI chr10:101,742,067...101,746,244 JBrowse link
G Itgb4 integrin subunit beta 4 ISO
ISS
ClinVar Annotator: match by term: Junctional epidermolysis bullosa, non-Herlitz type
OMIM:226650
ClinVar
MouseDO
PMID:25741868 PMID:28492532 NCBI chr10:101,705,592...101,741,933 JBrowse link
G Lama3 laminin subunit alpha 3 ISS
ISO
OMIM:226650
ClinVar Annotator: match by term: Epidermolysis bullosa junctionalis, disentis type | ClinVar Annotator: match by term: Junctional epidermolysis bullosa, non-Herlitz type
MouseDO
ClinVar
PMID:10366601 PMID:11810295 PMID:12915477 PMID:16473856 PMID:17362460 More... NCBI chr18:3,523,168...3,751,722 JBrowse link
G Lamb3 laminin subunit beta 3 ISO
ISS
ClinVar Annotator: match by term: Junctional epidermolysis bullosa, non-Herlitz type
ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA JUNCTIONALIS, SEVERE NONLETHAL | ClinVar Annotator: match by term: Epidermolysis bullosa junctionalis, disentis type | ClinVar Annotator: match by term: Junctional epidermolysis bullosa, non-Herlitz type
OMIM:226650
CTD Direct Evidence: marker/mechanism
ClinVar
MouseDO
CTD
PMID:7550237 PMID:7698759 PMID:7706760 PMID:8824879 PMID:8983017 More... NCBI chr13:104,833,810...104,875,405 JBrowse link
G Lamc2 laminin subunit gamma 2 ISO
ISS
CTD Direct Evidence: marker/mechanism
OMIM:226650
ClinVar Annotator: match by term: Junctional epidermolysis bullosa, non-Herlitz type
CTD
MouseDO
ClinVar
PMID:11564184 PMID:24550734 PMID:25741868 PMID:27375110 PMID:28492532 NCBI chr13:67,835,199...67,894,694 JBrowse link
junctional epidermolysis bullosa with pyloric atresia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Galk1 galactokinase 1 ISO ClinVar Annotator: match by term: Junctional epidermolysis bullosa with pyloric atresia
ClinVar Annotator: match by term: ITGB4-related condition | ClinVar Annotator: match by term: Junctional epidermolysis bullosa with pyloric atresia
ClinVar PMID:9536098 PMID:9792864 PMID:9892956 PMID:10484780 PMID:11328943 More... NCBI chr10:101,742,067...101,746,244 JBrowse link
G Itga6 integrin subunit alpha 6 ISO ClinVar Annotator: match by term: Epidermolysis bullosa, junctional 6, with pyloric atresia | ClinVar Annotator: match by term: ITGA6-related condition | ClinVar Annotator: match by term: ITGB4-related condition | ClinVar Annotator: match by term: Junctional epidermolysis bullosa with pyloric atresia OMIM
ClinVar
PMID:9158140 PMID:9185503 PMID:9804362 PMID:14675179 PMID:23496044 More... NCBI chr 3:56,604,512...56,689,428 JBrowse link
G Itgb4 integrin subunit beta 4 ISO
ISS
ClinVar Annotator: match by term: ITGB4-related condition | ClinVar Annotator: match by term: Junctional epidermolysis bullosa with pyloric atresia
OMIM:226730
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
MouseDO
CTD
PMID:6177243 PMID:7545057 PMID:9422533 PMID:9536098 PMID:9546354 More... NCBI chr10:101,705,592...101,741,933 JBrowse link
G Myo6 myosin VI ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5B, WITH PYLORIC ATRESIA ClinVar PMID:12687499 PMID:18348273 PMID:23767834 PMID:25080041 PMID:25741868 More... NCBI chr 8:81,087,157...81,242,022 JBrowse link
G Plec plectin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5B, WITH PYLORIC ATRESIA | ClinVar Annotator: match by term: Junctional epidermolysis bullosa with pyloric atresia
CTD
ClinVar
PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 7:109,768,447...109,829,798 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
ISS
ClinVar Annotator: match by term: FERMT1-related condition | ClinVar Annotator: match by term: Kindler syndrome
OMIM:173650
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
MouseDO
CTD
PMID:12668616 PMID:12789646 PMID:14507403 PMID:14962093 PMID:15313809 More... NCBI chr 3:120,171,301...120,213,555 JBrowse link
Localized Epidermolysis Bullosa Simplex 1C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Galk1 galactokinase 1 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 1C, localized ClinVar PMID:25741868 PMID:28492532 NCBI chr10:101,742,067...101,746,244 JBrowse link
G Itgb4 integrin subunit beta 4 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 1C, localized ClinVar PMID:11328943 PMID:16473856 PMID:25741868 PMID:28492532 NCBI chr10:101,705,592...101,741,933 JBrowse link
G Krt14 keratin 14 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 1C, localized OMIM
ClinVar
PMID:7506606 PMID:7561171 PMID:9284105 PMID:10733662 PMID:11710919 More... NCBI chr10:85,137,786...85,142,054 JBrowse link
G Krt5 keratin 5 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 1C, localized ClinVar PMID:7520042 PMID:7537780 PMID:7688477 PMID:8807337 PMID:9036937 More... NCBI chr 7:132,846,132...132,851,861 JBrowse link
Localized Epidermolysis Bullosa Simplex 2C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt5 keratin 5 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 2C, Weber-Cockayne type | ClinVar Annotator: match by term: Epidermolysis bullosa simplex 2C, localized | ClinVar Annotator: match by term: Epidermolysis bullosa simplex 2C, localized, modifier of OMIM
ClinVar
PMID:7520042 PMID:7537780 PMID:7688477 PMID:8807337 PMID:11973334 More... NCBI chr 7:132,846,132...132,851,861 JBrowse link
pretibial dystrophic epidermolysis bullosa term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col7a1 collagen type VII alpha 1 chain ISO ClinVar Annotator: match by term: Epidermolysis bullosa, pretibial, autosomal recessive | ClinVar Annotator: match by term: Pretibial dystrophic epidermolysis bullosa | ClinVar Annotator: match by term: Pretibial epidermolysis bullosa
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:7695699 PMID:7833933 PMID:7861014 PMID:8088783 PMID:8218237 More... NCBI chr 8:109,604,877...109,637,249 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 ISS
ISO
OMIM:226600
ClinVar Annotator: match by term: Epidermolysis bullosa dystrophica inversa, autosomal recessive | ClinVar Annotator: match by term: Recessive dystrophic epidermolysis bullosa
MouseDO
ClinVar
PMID:1050445 PMID:7577595 PMID:7695699 PMID:7833933 PMID:7883979 More... NCBI chr 8:109,604,877...109,637,249 JBrowse link
G Grip1 glutamate receptor interacting protein 1 ISS OMIM:226600 MouseDO NCBI chr 7:56,820,501...57,477,877 JBrowse link
G Mir711 microRNA 711 ISO ClinVar Annotator: match by term: Epidermolysis bullosa dystrophica inversa, autosomal recessive ClinVar PMID:28492532 NCBI chr 8:109,621,975...109,622,042 JBrowse link
G Mmp1 matrix metallopeptidase 1 ISO ClinVar Annotator: match by term: Recessive dystrophic epidermolysis bullosa ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:12,943,453...12,963,966 JBrowse link
Stevens-Johnson syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alb albumin ISO CTD Direct Evidence: therapeutic CTD PMID:12239465 NCBI chr14:17,891,564...17,907,043 JBrowse link
G Apcs amyloid P component, serum ISO CTD Direct Evidence: marker/mechanism CTD PMID:34142820 NCBI chr13:85,373,219...85,374,195 JBrowse link
G C1qa complement C1q A chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:34142820 NCBI chr 5:154,417,086...154,419,933 JBrowse link
G C1qc complement C1q C chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:34142820 NCBI chr 5:154,410,845...154,414,208 JBrowse link
G Cav1 caveolin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 4:46,606,538...46,639,616 JBrowse link
G Celf2 CUGBP, Elav-like family member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr17:70,904,462...71,729,072 JBrowse link
G Cfhr1 complement factor H-related 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34142820 NCBI chr13:51,395,583...51,410,571 JBrowse link
G Cfp complement factor properdin ISO CTD Direct Evidence: marker/mechanism CTD PMID:34142820 NCBI chr  X:1,162,014...1,167,576 JBrowse link
G Clu clusterin ISO mRNA:decreased expression:conjunctiva RGD PMID:12036968 RGD:8699507 NCBI chr15:40,161,068...40,200,315 JBrowse link
G Cops5 COP9 signalosome subunit 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 5:13,975,198...13,993,391 JBrowse link
G Crp C-reactive protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:34142820 NCBI chr13:87,694,062...87,695,978 JBrowse link
G Csf3 colony stimulating factor 3 ISO CTD Direct Evidence: therapeutic CTD PMID:11321886 NCBI chr10:84,157,485...84,159,860 JBrowse link
G Ctnnb1 catenin beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 8:129,517,576...129,544,661 JBrowse link
G Cul1 cullin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 4:77,551,781...77,634,210 JBrowse link
G Cul4a cullin 4A ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr16:83,086,688...83,124,503 JBrowse link
G Derl1 derlin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 7:89,404,413...89,427,095 JBrowse link
G Elmo1 engulfment and cell motility 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr17:44,286,495...44,822,668 JBrowse link
G Ep300 E1A binding protein p300 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 7:114,987,857...115,058,652 JBrowse link
G Fbxo6 F-box protein 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 5:163,859,909...163,865,693 JBrowse link
G Gstm1 glutathione S-transferase mu 1 ISO RGD PMID:28689274 RGD:14700974 NCBI chr 2:198,338,005...198,346,007 JBrowse link
G Ifng interferon gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 7:55,789,180...55,793,216 JBrowse link
G Lbp lipopolysaccharide binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:34142820 NCBI chr 3:146,953,889...146,981,032 JBrowse link
G Lrg1 leucine-rich alpha-2-glycoprotein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34142820 NCBI chr 9:947,516...949,773 JBrowse link
G Mif macrophage migration inhibitory factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:9372356 NCBI chr20:12,790,919...12,791,784 JBrowse link
G Mir18a microRNA 18a ISO CTD Direct Evidence: marker/mechanism CTD PMID:34142820 NCBI chr15:92,180,765...92,180,860 JBrowse link
G Nedd4 NEDD4 E3 ubiquitin protein ligase ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 8:82,264,751...82,349,642 JBrowse link
G Nfkbiz NFKB inhibitor zeta ISS MouseDO NCBI chr11:58,251,720...58,279,767 JBrowse link
G Nos2 nitric oxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10620138 NCBI chr10:64,313,335...64,349,221 JBrowse link
G Nucb1 nucleobindin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 1:105,104,793...105,135,730 JBrowse link
G Orm1 orosomucoid 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34142820 NCBI chr 5:81,788,509...81,791,661 JBrowse link
G Parp1 poly (ADP-ribose) polymerase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr13:94,839,484...94,871,295 JBrowse link
G Pml PML nuclear body scaffold ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 8:58,627,347...58,661,927 JBrowse link
G Pros1 protein S ISO CTD Direct Evidence: marker/mechanism CTD PMID:34142820 NCBI chr11:13,676,310...13,757,858 JBrowse link
G Psmc5 proteasome 26S subunit, ATPase 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr10:91,187,763...91,193,697 JBrowse link
G Ptger3 prostaglandin E receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21966456 NCBI chr 2:246,606,131...246,750,970 JBrowse link
G Ptgis prostaglandin I2 synthase ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 3:155,928,564...155,964,228 JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr15:54,780,858...54,911,989 JBrowse link
G Rbx1 ring-box 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 7:114,870,893...114,881,194 JBrowse link
G RT1-Bb RT1 class II, locus Bb susceptibility ISO DNA:polymorphism:cds:HLA-DQB1*0601 (human) RGD PMID:8841298 RGD:7483570 NCBI chr20:4,598,475...4,604,118 JBrowse link
G RT1-CE13 RT1 class I, locus CE13 susceptibility ISO DNA:polymorphisms:cds:HLA-B*5801 (human, Japanese)
DNA:polymorphisms:cds:HLA-B*15:02, HLA-B*40:01, HLA-B*58:02 (human)
RGD PMID:19018717 PMID:23692434 RGD:7364874, RGD:7365090 NCBI chr20:3,314,491...3,322,815 JBrowse link
G RT1-CE16 RT1 class I, locus CE16 susceptibility ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hypersensitivity syndrome, carbamazepine-induced, susceptibility to
CTD
OMIM
ClinVar
PMID:16538176 PMID:21428769 PMID:23588310 NCBI chr20:3,261,656...3,265,548 JBrowse link
G Tnf tumor necrosis factor ISO protein:increased expression:blister: RGD PMID:9852250 RGD:7401184 NCBI chr20:3,626,685...3,629,303 JBrowse link
G Vcp valosin-containing protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 5:62,005,984...62,025,387 JBrowse link
G Vwf von Willebrand factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:34142820 NCBI chr 4:160,042,900...160,177,757 JBrowse link
transient bullous dermolysis of the newborn term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col7a1 collagen type VII alpha 1 chain ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA DYSTROPHICA, NEONATAL FORM | ClinVar Annotator: match by term: Epidermolysis bullosa dystrophica, dominant neonatal form | ClinVar Annotator: match by term: Transient bullous dermolysis of the newborn
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:2653224 PMID:7695699 PMID:7833933 PMID:8088783 PMID:8218237 More... NCBI chr 8:109,604,877...109,637,249 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19139
    sensory system disease 7376
      skin disease 4320
        dermatitis 529
          bullous skin disease 168
            vesiculobullous skin disease 155
              Acantholysis + 0
              Blister + 5
              Cutaneous Bullous Amyloidosis 0
              Eosinophilic Pustular Folliculitis 1
              Hydroa Vacciniforme + 0
              Linear IgA Bullous Dermatosis 0
              Papular Urticaria 0
              atrichia with papular lesions 3
              dermatitis herpetiformis + 4
              epidermolysis bullosa + 96
              erythema multiforme + 49
              pompholyx 0
Path 2
Term Annotations click to browse term
  disease 19139
    Pathological Conditions, Signs and Symptoms 13623
      Signs and Symptoms 11213
        Neurologic Manifestations 10448
          sensory system disease 7376
            skin disease 4320
              dermatitis 529
                bullous skin disease 168
                  vesiculobullous skin disease 155
                    Acantholysis + 0
                    Blister + 5
                    Cutaneous Bullous Amyloidosis 0
                    Eosinophilic Pustular Folliculitis 1
                    Hydroa Vacciniforme + 0
                    Linear IgA Bullous Dermatosis 0
                    Papular Urticaria 0
                    atrichia with papular lesions 3
                    dermatitis herpetiformis + 4
                    epidermolysis bullosa + 96
                    erythema multiforme + 49
                    pompholyx 0
paths to the root