RGD DISEASE ONTOLOGY - ANNOTATIONS
RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term: bullous skin disease
Accession: DOID:8502
browse the term
Definition: A dermatitis that is characterized by blisters filled with a watery fluid, located_in skin. The disease is associated with the amount of gluten ingested. (DO)
Synonyms: exact_synonym: bullous dermatoses; bullous skin diseases
narrow_synonym: autoimmune bullous skin disease
xref: EFO:0008598 ; EFO:1000673
For additional species annotation, visit the
Alliance of Genome Resources .
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HR
HR lysine demethylase and nuclear receptor corepressor
ISO
ClinVar Annotator: match by term: Atrichia with papular lesions | ClinVar Annotator: match by term: Papular Atrichia
OMIM ClinVar
PMID:8790387 PMID:9445480 PMID:9736769 PMID:9758627 PMID:9856480 PMID:9880231 PMID:9892925 PMID:10205263 PMID:10469319 PMID:11410842 PMID:11966690 PMID:12271294 PMID:17609203 PMID:17869066 PMID:18164595 PMID:20087431 PMID:20512917 PMID:21747609 PMID:21919222 PMID:22584530 PMID:23548463 PMID:24033266 PMID:25741868 PMID:28492532 More...
NCBI chr25:35,120,566...35,136,560
Ensembl chr25:35,119,784...35,135,545
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ODC1
ornithine decarboxylase 1
ISO
OMIM:209500
MouseDO
NCBI chr17:7,368,699...7,376,970
Ensembl chr17:7,369,232...7,376,975
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COL7A1
collagen type VII alpha 1 chain
ISO
ClinVar Annotator: match by term: Epidermolysis bullosa dystrophica, autosomal dominant
OMIM ClinVar
PMID:1680286 PMID:2425097 PMID:5910871 PMID:7577595 PMID:7695699 PMID:7738360 PMID:7833933 PMID:7861014 PMID:8088783 PMID:8170945 PMID:8218237 PMID:8288900 PMID:8345225 PMID:8618004 PMID:8618021 PMID:8644729 PMID:8644730 PMID:8752681 PMID:8755915 PMID:9215684 PMID:9242516 PMID:9326325 PMID:9347800 PMID:9536098 PMID:9666834 PMID:9668111 PMID:9740253 PMID:9804332 PMID:9856843 PMID:9856844 PMID:9881948 PMID:9892921 PMID:10084325 PMID:10232408 PMID:10233777 PMID:10383749 PMID:10408773 PMID:10469344 PMID:10504458 PMID:10836608 PMID:11710955 PMID:11781296 PMID:11874498 PMID:11952672 PMID:12207583 PMID:12485454 PMID:12735646 PMID:12787275 PMID:12813757 PMID:14616374 PMID:15816848 PMID:15888141 PMID:16189623 PMID:16199547 PMID:16271705 PMID:16484981 PMID:16557343 PMID:16965329 PMID:16971468 PMID:16971478 PMID:17336503 PMID:17425959 PMID:17576681 PMID:17916216 PMID:18429782 PMID:18440202 PMID:18951764 PMID:19197535 PMID:19269793 PMID:19344236 PMID:19665875 PMID:19681861 PMID:20357813 PMID:20598510 PMID:20920254 PMID:21269315 PMID:21448560 PMID:21471992 PMID:22058051 PMID:22266148 PMID:23237810 PMID:23397949 PMID:23786535 PMID:23947675 PMID:24032424 PMID:24033266 PMID:24210835 PMID:24317394 PMID:24599399 PMID:24794830 PMID:24947307 PMID:25201089 PMID:25222259 PMID:25525159 PMID:25741868 PMID:26039182 PMID:26076072 PMID:26102279 PMID:26148662 PMID:26446410 PMID:26467025 PMID:26763448 PMID:26864810 PMID:27153395 PMID:27899325 PMID:28492532 PMID:28830826 PMID:29473190 PMID:29500833 PMID:29963685 PMID:30280950 PMID:31001817 PMID:31670143 PMID:31709745 PMID:31930626 PMID:32383240 PMID:32506467 PMID:32860008 PMID:33587123 PMID:34435747 PMID:35979658 PMID:36287101 More...
NCBI chr20:40,519,121...40,550,305
Ensembl chr20:40,519,378...40,552,935
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ITGB4
integrin subunit beta 4
ISO
ClinVar Annotator: match by term: Cockayne-Touraine type epidermolysis bullosa
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 9:4,825,148...4,855,266
Ensembl chr 9:4,825,292...4,855,820
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KRT14
keratin 14
ISO
ClinVar Annotator: match by term: Cockayne-Touraine type epidermolysis bullosa
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 9:21,190,672...21,195,060
Ensembl chr 9:21,156,045...21,265,564
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KRT81
keratin 81
ISO
ClinVar Annotator: match by term: Cockayne-Touraine type epidermolysis bullosa
ClinVar
PMID:7520042 PMID:7537780 PMID:7688477 PMID:8807337 PMID:9036937 PMID:16098032 PMID:16601668 PMID:16882168 PMID:20030639 PMID:20301543 PMID:25741868 PMID:26743602 PMID:28492532 PMID:28561874 PMID:30515866 PMID:31579952 More...
NCBI chr27:2,776,693...2,782,016
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ADAM17
ADAM metallopeptidase domain 17
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19167455
NCBI chr17:6,589,874...6,638,788
Ensembl chr17:6,589,878...6,638,731
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ANXA1
annexin A1
ISO
associated with Hypersensitivity, Delayed;protein:increased expression:mononuclear cell
RGD
PMID:10331485
RGD:7421575
NCBI chr 1:84,744,159...84,763,011
Ensembl chr 1:84,744,163...84,763,011
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DSG3
desmoglein 3
ISO
ClinVar Annotator: match by term: Blistering, acantholytic, of oral and laryngeal mucosa
OMIM ClinVar
PMID:25741868 PMID:30528827
NCBI chr 7:58,046,563...58,077,926
Ensembl chr 7:57,982,825...58,077,926
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CCL26
C-C motif chemokine ligand 26
ISO
protein:increased expression:blister, serum (human)
RGD
PMID:21881593
RGD:11087555
NCBI chr 6:7,151,352...7,154,509
Ensembl chr 6:7,151,212...7,154,726
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CFB
complement factor B
ISO
RGD
PMID:17024247
RGD:7421522
NCBI chr12:1,400,143...1,406,267
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CXCL8
C-X-C motif chemokine ligand 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11359455
NCBI chr13:62,435,035...62,438,354
Ensembl chr13:62,434,422...62,438,354
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F2
coagulation factor II, thrombin
ISO
protein:increased expression:plasma
RGD
PMID:21488867
RGD:5147756
NCBI chr18:42,782,744...42,799,531
Ensembl chr18:42,782,751...42,799,459
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ICAM1
intercellular adhesion molecule 1
ISO
RGD
PMID:1377725
RGD:8547591
NCBI chr20:50,818,715...50,827,914
Ensembl chr20:50,818,715...50,827,914
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IL2
interleukin 2
ISO
RGD
PMID:1973607
RGD:8663461
NCBI chr19:17,750,780...17,756,394
Ensembl chr19:17,750,780...17,756,394
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MMP9
matrix metallopeptidase 9
ISO
RGD
PMID:9687525
RGD:8547843
NCBI chr24:33,274,260...33,281,116
Ensembl chr24:33,274,268...33,281,293
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VEGFA
vascular endothelial growth factor A
ISO
mRNA:increased expression: :
RGD
PMID:7738351
RGD:7421578
NCBI chr12:12,209,032...12,224,978
Ensembl chr12:12,208,231...12,224,965
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CLU
clusterin
ISO
mRNA:decreased expression:conjunctiva
RGD
PMID:12036968
RGD:8699507
NCBI chr25:29,982,811...29,999,565
Ensembl chr25:29,982,811...29,999,563
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DLA-DQB1
major histocompatibility complex, class II, DQ beta 1
susceptibility
ISO
DNA:polymorphisms, haplotypes:cds:HLA-DQB1*0301, HLA-DQB1*0201 (human) DNA:polymorphism:cds:HLA-DQB1*0301 (human)
RGD
PMID:9008223 PMID:9683867
RGD:7365096 RGD:7483589
NCBI chr12:2,305,307...2,307,711
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DLA-DRB1
MHC class II DLA DRB1 beta chain
susceptibility
ISO
DNA:polymorphism: :DRB1*1101, DRB1*0701(human) DNA:polymorphism: :HLA-DRB1*04(human)
RGD
PMID:8052655 PMID:9683867
RGD:7365096 RGD:7365103
NCBI chr12:2,151,409...2,164,564
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IL1RN
interleukin 1 receptor antagonist
ISO
protein:increased expression:serum (human)
RGD
PMID:11448121
RGD:8549794
NCBI chr17:37,236,690...37,250,424
Ensembl chr17:37,212,751...37,249,329
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PTGER3
prostaglandin E receptor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21966456
NCBI chr 6:74,932,789...74,986,573
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TNF
tumor necrosis factor
ISO
protein:increased expression:Conjunctiva:
RGD
PMID:7750940
RGD:7394786
NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425
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ELN
elastin
ISO
RGD
PMID:8256113
RGD:9585750
NCBI chr 6:6,299,524...6,331,425
Ensembl chr 6:6,300,727...6,331,325
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LTA
lymphotoxin alpha
ISO
DNA:polymorphism
RGD
PMID:7914110
RGD:8548777
NCBI chr12:1,070,608...1,073,053
Ensembl chr12:1,071,192...1,073,067
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TNF
tumor necrosis factor
ISO
DNA:polymorphism:promoter
RGD
PMID:7914110
RGD:8548777
NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425
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VEGFA
vascular endothelial growth factor A
ISO
mRNA:increased expression: :
RGD
PMID:7738351
RGD:7421578
NCBI chr12:12,209,032...12,224,978
Ensembl chr12:12,208,231...12,224,965
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CCL26
C-C motif chemokine ligand 26
ISO
protein:increased expression:skin, sebocyte (human)
RGD
PMID:22206772
RGD:11081159
NCBI chr 6:7,151,352...7,154,509
Ensembl chr 6:7,151,212...7,154,726
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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 chr20:40,519,121...40,550,305
Ensembl chr20:40,519,378...40,552,935
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EXPH5
exophilin 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 5:24,006,577...24,078,136
Ensembl chr 5:23,985,054...24,075,963
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ITGA6
integrin subunit alpha 6
ISO
ClinVar Annotator: match by term: Epidermolysis bullosa
ClinVar
PMID:14675179 PMID:25741868
NCBI chr36:16,777,363...16,858,725
Ensembl chr36:16,776,863...16,855,449
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ITGB4
integrin subunit beta 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18348258
NCBI chr 9:4,825,148...4,855,266
Ensembl chr 9:4,825,292...4,855,820
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KRT81
keratin 81
ISO
ClinVar Annotator: match by term: Epidermolysis bullosa
ClinVar
PMID:25741868
NCBI chr27:2,776,693...2,782,016
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LAMB3
laminin subunit beta 3
ISO
ClinVar Annotator: match by term: Epidermolysis bullosa
ClinVar
PMID:25741868
NCBI chr 7:8,272,326...8,313,322
Ensembl chr 7:8,272,736...8,310,474
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COL7A1
collagen type VII alpha 1 chain
susceptibility
ISO IAGP
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 Epidermolysis bullosa, dystrophic DNA:insertion-deletion
OMIM ClinVar OMIA RGD
PMID:2425097 PMID:5910871 PMID:7577595 PMID:7695699 PMID:7833933 PMID:7861014 PMID:8037207 PMID:8088783 PMID:8218237 PMID:8275094 PMID:8345225 PMID:8547021 PMID:8592061 PMID:8618004 PMID:8618018 PMID:8618021 PMID:8644729 PMID:8644730 PMID:8752681 PMID:8755915 PMID:8900535 PMID:9042157 PMID:9215684 PMID:9242516 PMID:9326325 PMID:9347800 PMID:9536098 PMID:9666834 PMID:9668111 PMID:9740253 PMID:9804332 PMID:9856844 PMID:9881948 PMID:9892921 PMID:10084325 PMID:10383749 PMID:10408773 PMID:10469344 PMID:10504458 PMID:10583163 PMID:10836608 PMID:10886525 PMID:10944088 PMID:10980546 PMID:11167698 PMID:11378329 PMID:11698408 PMID:11710955 PMID:11781296 PMID:11843659 PMID:11874498 PMID:12207583 PMID:12485454 PMID:12653705 PMID:12735646 PMID:12787275 PMID:12813757 PMID:12874109 PMID:15509587 PMID:15550148 PMID:15816848 PMID:15888141 PMID:16119884 PMID:16189623 PMID:16199547 PMID:16271705 PMID:16439963 PMID:16484981 PMID:16500083 PMID:16965329 PMID:16971478 PMID:17282977 PMID:17425959 PMID:17495952 PMID:17501948 PMID:17576681 PMID:17916216 PMID:18030675 PMID:18414213 PMID:18429782 PMID:18440202 PMID:18450758 PMID:18558993 PMID:18565177 PMID:18951764 PMID:19197535 PMID:19344236 PMID:19439919 PMID:19665875 PMID:19681861 PMID:19694003 PMID:19694005 PMID:19726672 PMID:19814614 PMID:20108398 PMID:20108428 PMID:20184583 PMID:20357813 PMID:20585476 PMID:20598510 PMID:20920254 PMID:21124339 PMID:21269315 PMID:21448560 PMID:21471992 PMID:21697889 PMID:22058051 PMID:22070715 PMID:22209565 PMID:22266148 PMID:23237810 PMID:23397949 PMID:23786535 PMID:23947675 PMID:24032424 PMID:24033266 PMID:24170138 PMID:24210835 PMID:24213372 PMID:24252097 PMID:24279917 PMID:24317394 PMID:24577406 PMID:24599399 PMID:24794830 PMID:24831336 PMID:24947307 PMID:25155989 PMID:25201089 PMID:25222259 PMID:25284350 PMID:25525159 PMID:25556825 PMID:25741868 PMID:25819062 PMID:25913354 PMID:26076072 PMID:26102279 PMID:26148662 PMID:26446410 PMID:26467025 PMID:26612796 PMID:26763448 PMID:26864810 PMID:27153395 PMID:27544590 PMID:27746867 PMID:27899325 PMID:28492532 PMID:28493971 PMID:28830826 PMID:28853495 PMID:29130490 PMID:29229433 PMID:29242947 PMID:29272047 PMID:29334134 PMID:29364557 PMID:29427316 PMID:29473190 PMID:29500833 PMID:29963685 PMID:30280950 PMID:31001817 PMID:31090061 PMID:31670143 PMID:31709745 PMID:31786163 PMID:31930626 PMID:32383240 PMID:32484238 PMID:32506467 PMID:32860008 PMID:33274474 PMID:33291836 PMID:33587123 PMID:33969388 PMID:34046686 PMID:34230977 PMID:34435747 PMID:34606885 PMID:34674926 PMID:34826142 PMID:34948168 PMID:35432467 PMID:35885431 PMID:35979658 PMID:36287101 PMID:36430820 More...
RGD:1600946
NCBI chr20:40,519,121...40,550,305
Ensembl chr20:40,519,378...40,552,935
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IGFBP3
insulin like growth factor binding protein 3
ISO
mRNA,protein:decreased expression:skin:
RGD
PMID:15140235
RGD:12743601
NCBI chr16:1,021,855...1,027,604
Ensembl chr16:1,021,972...1,026,392
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MMP1
matrix metallopeptidase 1
severity
ISO
DNA:insertion:promoter:g.-1607_-1606insG (human) ClinVar Annotator: match by term: Hallopeau-Siemens Disease
RGD ClinVar
PMID:18030675 PMID:25741868 PMID:28492532
RGD:8549728
NCBI chr 5:28,978,385...28,986,644
Ensembl chr 5:28,978,473...28,986,648
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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 PMID:10408773 PMID:10504458 PMID:11781296 PMID:12485454 PMID:12787275 PMID:15888141 PMID:16271705 PMID:16484981 PMID:16965329 PMID:16971478 PMID:17576681 PMID:18565177 PMID:19344236 PMID:19681861 PMID:20598510 PMID:22058051 PMID:22266148 PMID:24033266 PMID:25741868 PMID:28492532 PMID:31001817 PMID:31930626 PMID:35979658 More...
NCBI chr20:40,519,121...40,550,305
Ensembl chr20:40,519,378...40,552,935
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COL7A1
collagen type VII alpha 1 chain
ISO
ClinVar Annotator: match by term: DYSTROPHIC EPIDERMOLYSIS BULLOSA PRURIGINOSA | ClinVar Annotator: match by term: Epidermolysis bullosa pruriginosa | ClinVar Annotator: match by term: Epidermolysis bullosa pruriginosa, autosomal dominant | ClinVar Annotator: match by term: Epidermolysis bullosa pruriginosa, autosomal recessive
OMIM ClinVar
PMID:7695699 PMID:7833933 PMID:8088783 PMID:8218237 PMID:8644730 PMID:8755915 PMID:9182828 PMID:9242516 PMID:9326325 PMID:9536098 PMID:9666834 PMID:9718359 PMID:9804332 PMID:9856844 PMID:9881948 PMID:10367729 PMID:10383749 PMID:10408773 PMID:10504458 PMID:10836608 PMID:11781296 PMID:12207583 PMID:12485454 PMID:12787275 PMID:12813757 PMID:15816848 PMID:15888141 PMID:16199547 PMID:16271705 PMID:16965329 PMID:16971478 PMID:17425959 PMID:17434045 PMID:17576681 PMID:18429782 PMID:18440202 PMID:18951764 PMID:19344236 PMID:19665875 PMID:19681861 PMID:20357813 PMID:20598510 PMID:20920254 PMID:21448560 PMID:21471992 PMID:22058051 PMID:22209565 PMID:22266148 PMID:23237810 PMID:23947675 PMID:24032424 PMID:24033266 PMID:24210835 PMID:24599399 PMID:24947307 PMID:25201089 PMID:25525159 PMID:25741868 PMID:26076072 PMID:26102279 PMID:26148662 PMID:26446410 PMID:26467025 PMID:26763448 PMID:27153395 PMID:27899325 PMID:28492532 PMID:28830826 PMID:29473190 PMID:30280950 PMID:31001817 PMID:31670143 PMID:31930626 PMID:32383240 PMID:32484238 PMID:32860008 PMID:33274474 PMID:33587123 PMID:34046686 PMID:34435747 PMID:34597860 PMID:35598269 PMID:35979658 PMID:36287101 More...
NCBI chr20:40,519,121...40,550,305
Ensembl chr20:40,519,378...40,552,935
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ITGB4
integrin subunit beta 4
ISO
ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Cockayne-Touraine type
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 9:4,825,148...4,855,266
Ensembl chr 9:4,825,292...4,855,820
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KRT14
keratin 14
susceptibility
ISO
DNA:point mutations ClinVar Annotator: match by term: Epidermolysis bullosa simplex | ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Cockayne-Touraine type | ClinVar Annotator: match by term: Epidermolysis bullosa simplex, autosomal recessive
RGD ClinVar
PMID:1717157 PMID:7682883 PMID:8601736 PMID:10583131 PMID:10733662 PMID:10971341 PMID:11331879 PMID:12925204 PMID:16098032 PMID:16614722 PMID:16786515 PMID:16960809 PMID:18717745 PMID:20151404 PMID:20199538 PMID:20301543 PMID:21375516 PMID:21623745 PMID:25326635 PMID:25741868 PMID:26432462 PMID:26743602 PMID:27283507 PMID:28492532 PMID:28830826 PMID:29130490 PMID:29242947 PMID:31957133 More...
RGD:1600173
NCBI chr 9:21,190,672...21,195,060
Ensembl chr 9:21,156,045...21,265,564
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KRT81
keratin 81
susceptibility
ISO
DNA:mutation ClinVar Annotator: match by term: Epidermolysis bullosa simplex | ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Cockayne-Touraine type
RGD ClinVar
PMID:421361 PMID:1049409 PMID:1372711 PMID:1718160 PMID:2476664 PMID:6457621 PMID:7520042 PMID:7537780 PMID:7682695 PMID:7686424 PMID:7688477 PMID:8595431 PMID:8799157 PMID:8807337 PMID:9036937 PMID:9129237 PMID:10494094 PMID:11167681 PMID:11407988 PMID:11973334 PMID:12925204 PMID:15030360 PMID:15324323 PMID:15647384 PMID:15982306 PMID:16098032 PMID:16465624 PMID:16581562 PMID:16601668 PMID:16786515 PMID:16882168 PMID:17034543 PMID:17039244 PMID:17229601 PMID:17855059 PMID:18384561 PMID:20030639 PMID:20055872 PMID:20108434 PMID:20199538 PMID:20301543 PMID:20849457 PMID:20923750 PMID:21144712 PMID:21375516 PMID:21623745 PMID:22640275 PMID:23889190 PMID:23993914 PMID:24104543 PMID:24964947 PMID:25017986 PMID:25741868 PMID:26286811 PMID:26432462 PMID:26707537 PMID:26743602 PMID:27730678 PMID:28425111 PMID:28492532 PMID:28561874 PMID:30515866 PMID:31001817 PMID:31302245 PMID:31312705 PMID:31579952 PMID:33910931 More...
RGD:1600195
NCBI chr27:2,776,693...2,782,016
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MMP9
matrix metallopeptidase 9
ISO
RGD
PMID:23894602
RGD:13204851
NCBI chr24:33,274,260...33,281,116
Ensembl chr24:33,274,268...33,281,293
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PLEC
plectin
ISO IAGP
ClinVar Annotator: match by term: Epidermolysis bullosa simplex Epidermolysis bullosa, simplex, PLEC-related
ClinVar OMIA
PMID:11851880 PMID:23289980 PMID:25741868 PMID:27878870 PMID:28492532 PMID:36006348 PMID:37582787 More...
NCBI chr13:37,449,379...37,503,752
Ensembl chr13:37,450,248...37,513,523
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KRT81
keratin 81
ISO
ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX 2E, WITH MIGRATORY CIRCINATE ERYTHEMA | ClinVar Annotator: match by term: Epidermolysis bullosa simplex with migratory circinate erythema
OMIM ClinVar
PMID:7520042 PMID:8807337 PMID:9036937 PMID:12925204 PMID:15324323 PMID:15647384 PMID:15982306 PMID:20055872 PMID:20301543 PMID:23889190 PMID:24104543 PMID:25741868 PMID:27730678 PMID:28492532 PMID:29180315 PMID:31965605 More...
NCBI chr27:2,776,693...2,782,016
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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 PMID:24033266 PMID:25059916 PMID:25741868 PMID:25790160 PMID:28492532 PMID:30371979 PMID:31474762 PMID:33471381 More...
NCBI chr12:23,715,637...24,195,220
Ensembl chr12:23,716,466...24,195,416
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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 PMID:27384765 PMID:27730671 PMID:28492532 PMID:28830826 PMID:30016581 PMID:32176379 More...
NCBI chr 5:24,006,577...24,078,136
Ensembl chr 5:23,985,054...24,075,963
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PLEC
plectin
ISO
ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX 5C, WITH PYLORIC ATRESIA | ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5C, with pyloric atresia | ClinVar Annotator: match by term: Epidermolysis bullosa simplex with pyloric atresia
OMIM ClinVar
PMID:9536098 PMID:11851880 PMID:14675180 PMID:15206692 PMID:15654962 PMID:15681471 PMID:15810881 PMID:17576681 PMID:20301336 PMID:21263134 PMID:22144912 PMID:22854623 PMID:23757202 PMID:23774525 PMID:24033266 PMID:25712130 PMID:25741868 PMID:26467025 PMID:26498160 PMID:28492532 PMID:29050564 PMID:29453417 PMID:30691450 PMID:30919572 PMID:31862442 PMID:32017015 PMID:32576226 More...
NCBI chr13:37,449,379...37,503,752
Ensembl chr13:37,450,248...37,513,523
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ARHGAP10
Rho GTPase activating protein 10
ISO
ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy
ClinVar
PMID:25741868
NCBI chr15:46,064,489...46,382,079
Ensembl chr15:46,070,312...46,381,839
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BCLAF1
BCL2 associated transcription factor 1
ISO
ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy
ClinVar
NCBI chr 1:28,852,654...28,882,095
Ensembl chr 1:28,855,041...28,882,006
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DCUN1D2
defective in cullin neddylation 1 domain containing 2
ISO
ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy
ClinVar
NCBI chr22:60,750,547...60,778,245
Ensembl chr22:60,752,283...60,778,038
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FREM2
FRAS1 related extracellular matrix 2
ISO
ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy
ClinVar
PMID:28492532
NCBI chr25:2,097,264...2,264,049
Ensembl chr25:2,102,849...2,264,456
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GPR33
G protein-coupled receptor 33
ISO
ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy
ClinVar
NCBI chr 8:10,718,470...10,720,029
Ensembl chr 8:10,719,010...10,720,029
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IDS
iduronate 2-sulfatase
ISO
ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy
ClinVar
NCBI chr X:117,490,749...117,515,566
Ensembl chr X:117,491,548...117,515,496
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LOC119863999
hornerin-like
ISO
ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy
ClinVar
PMID:25741868
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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 PMID:17576681 PMID:20301336 PMID:20447487 PMID:21109228 PMID:21263134 PMID:22144912 PMID:22854623 PMID:23289980 PMID:23757202 PMID:23774525 PMID:24033266 PMID:25712130 PMID:25741868 PMID:26467025 PMID:26498160 PMID:28492532 PMID:28824526 PMID:28830826 PMID:29050564 PMID:29453417 PMID:30691450 PMID:30919572 PMID:31862442 PMID:32017015 PMID:32576226 PMID:32725257 More...
NCBI chr13:37,449,379...37,503,752
Ensembl chr13:37,450,248...37,513,523
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RP1L1
RP1 like 1
ISO
ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy
ClinVar
NCBI chr25:27,317,102...27,332,075
Ensembl chr25:27,325,658...27,330,556
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TMEM249
transmembrane protein 249
ISO
ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy
ClinVar
NCBI chr13:37,778,698...37,780,774
Ensembl chr13:37,778,730...37,780,385
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CD151
CD151 molecule
ISO
ClinVar Annotator: match by term: CD151-related condition | ClinVar Annotator: match by term: Epidermolysis bullosa simplex 7, with nephropathy and deafness
OMIM ClinVar
PMID:15265795 PMID:25741868 PMID:25741871 PMID:28492532
NCBI chr18:45,195,875...45,200,066
Ensembl chr18:45,196,237...45,200,081
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KRT14
keratin 14
ISO
ClinVar Annotator: match by term: Epidermolysis bullosa simplex Dowling-Meara type
ClinVar
PMID:1717157 PMID:9804355 PMID:10583131 PMID:10730767 PMID:10733662 PMID:11331879 PMID:11710919 PMID:16098032 PMID:16439965 PMID:16960809 PMID:18717745 PMID:20151404 PMID:20301543 PMID:21623745 PMID:25326635 PMID:25741868 PMID:26432462 PMID:26743602 PMID:28492532 PMID:31957133 More...
NCBI chr 9:21,190,672...21,195,060
Ensembl chr 9:21,156,045...21,265,564
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KRT81
keratin 81
ISO
ClinVar Annotator: match by term: Epidermolysis bullosa herpetiformis, Dowling-Meara | ClinVar Annotator: match by term: Epidermolysis bullosa simplex Dowling-Meara type
ClinVar
PMID:7520042 PMID:8807337 PMID:9036937 PMID:16098032 PMID:16601668 PMID:16882168 PMID:20030639 PMID:20301543 PMID:25741868 PMID:26743602 PMID:28492532 PMID:28561874 PMID:30515866 PMID:31579952 More...
NCBI chr27:2,776,693...2,782,016
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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 PMID:30120936 PMID:30226531 PMID:30715372 PMID:34292882 PMID:34740256 PMID:35975634 More...
NCBI chr34:16,583,683...16,625,778
Ensembl chr34:16,590,368...16,621,041
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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 PMID:10583131 PMID:10733662 PMID:11331879 PMID:11710919 PMID:11990248 PMID:16098032 PMID:16960809 PMID:18717745 PMID:20151404 PMID:20301543 PMID:21623745 PMID:25326635 PMID:25741868 PMID:26743602 PMID:28492532 PMID:31957133 More...
NCBI chr 9:21,190,672...21,195,060
Ensembl chr 9:21,156,045...21,265,564
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KRT81
keratin 81
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 chr27:2,776,693...2,782,016
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ITGB4
integrin subunit beta 4
ISO
ClinVar Annotator: match by term: Localized epidermolysis bullosa simplex
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 9:4,825,148...4,855,266
Ensembl chr 9:4,825,292...4,855,820
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KRT14
keratin 14
ISO
ClinVar Annotator: match by term: Localized epidermolysis bullosa simplex
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 9:21,190,672...21,195,060
Ensembl chr 9:21,156,045...21,265,564
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KRT81
keratin 81
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 PMID:16098032 PMID:16601668 PMID:16882168 PMID:20030639 PMID:20301543 PMID:25741868 PMID:26743602 PMID:28492532 PMID:28561874 PMID:30515866 PMID:31579952 More...
NCBI chr27:2,776,693...2,782,016
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PLEC
plectin
ISO
ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX 5A, OGNA TYPE | ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Ogna type
OMIM ClinVar
PMID:9536098 PMID:11851880 PMID:15206692 PMID:15810881 PMID:17576681 PMID:18414213 PMID:20016501 PMID:20301336 PMID:21263134 PMID:22144912 PMID:22854623 PMID:22864774 PMID:23757202 PMID:23774525 PMID:24033266 PMID:25741868 PMID:26467025 PMID:26498160 PMID:28400893 PMID:28492532 PMID:29050564 PMID:29334134 PMID:29453417 PMID:30691450 PMID:30919572 PMID:31862442 PMID:32017015 PMID:32576226 More...
NCBI chr13:37,449,379...37,503,752
Ensembl chr13:37,450,248...37,513,523
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KRT81
keratin 81
ISO
ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX 2F, WITH MOTTLED PIGMENTATION | ClinVar Annotator: match by term: Epidermolysis bullosa simplex with mottled pigmentation | ClinVar Annotator: match by term: Speckled hyperpigmentation, palmo-plantar punctate keratoses and childhood blistering
OMIM ClinVar
PMID:421361 PMID:1049409 PMID:2476664 PMID:6457621 PMID:7520042 PMID:8799157 PMID:8807337 PMID:9036937 PMID:9129237 PMID:10494094 PMID:11167681 PMID:12925204 PMID:15030360 PMID:15324323 PMID:15647384 PMID:15982306 PMID:16098032 PMID:16581562 PMID:16601668 PMID:16882168 PMID:17229601 PMID:20030639 PMID:20055872 PMID:20108434 PMID:20301543 PMID:20849457 PMID:20923750 PMID:22640275 PMID:23889190 PMID:23993914 PMID:24104543 PMID:24964947 PMID:25017986 PMID:25741868 PMID:26286811 PMID:26432462 PMID:26743602 PMID:27730678 PMID:28492532 PMID:28561874 PMID:30515866 PMID:31001817 PMID:31312705 PMID:31579952 PMID:33910931 More...
NCBI chr27:2,776,693...2,782,016
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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 PMID:28492532 PMID:28824526 More...
NCBI chr13:37,800,562...37,817,449
Ensembl chr13:37,799,956...37,818,256
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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 PMID:28492532 PMID:28824526 More...
NCBI chr13:37,698,635...37,723,803
Ensembl chr13:37,698,698...37,724,457
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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 PMID:28492532 PMID:28824526 More...
NCBI chr13:37,303,107...37,304,843
Ensembl chr13:37,303,254...37,304,649
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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 PMID:28492532 PMID:28824526 More...
NCBI chr13:37,817,440...37,827,868
Ensembl chr13:37,817,442...37,825,212
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CYC1
cytochrome c1
ISO
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy
ClinVar
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
NCBI chr13:37,590,919...37,593,239
Ensembl chr13:37,590,912...37,593,156
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CYHR1
cysteine and histidine rich 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 PMID:28492532 PMID:28824526 More...
NCBI chr13:37,860,452...37,871,982
Ensembl chr13:37,858,424...37,874,624
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CYP11B1
cytochrome P450 family 11 subfamily B member 1
ISO
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy
ClinVar
PMID:28492532
NCBI chr13:36,866,476...36,880,625
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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 PMID:28492532 PMID:28824526 More...
NCBI chr13:37,745,395...37,761,337
Ensembl chr13:37,741,706...37,756,916
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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 PMID:28492532 PMID:28824526 More...
NCBI chr13:37,240,405...37,247,603
Ensembl chr13:37,239,150...37,255,958
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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 PMID:28492532 PMID:28824526 More...
NCBI chr13:37,401,099...37,410,739
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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 PMID:28492532 PMID:28824526 More...
NCBI chr13:37,574,359...37,576,331
Ensembl chr13:37,574,527...37,577,380
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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 PMID:28492532 PMID:28824526 More...
NCBI chr13:37,324,090...37,332,421
Ensembl chr13:37,325,548...37,336,834
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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 PMID:28492532 PMID:28824526 More...
NCBI chr13:37,780,991...37,783,976
Ensembl chr13:37,780,974...37,785,045
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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 PMID:28492532 PMID:28824526 More...
NCBI chr13:37,883,554...37,887,324
Ensembl chr13:37,882,687...37,885,319
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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 PMID:28492532 PMID:28824526 More...
NCBI chr13:37,267,119...37,272,101
Ensembl chr13:37,267,122...37,271,967
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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 PMID:28492532 PMID:28824526 More...
NCBI chr13:37,029,553...37,035,429
Ensembl chr13:37,028,512...37,035,454
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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 PMID:28492532 PMID:28824526 More...
NCBI chr13:37,577,162...37,580,346
Ensembl chr13:37,576,354...37,580,345
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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 PMID:28492532 PMID:28824526 More...
NCBI chr13:37,005,499...37,007,214
Ensembl chr13:37,005,512...37,007,074
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GPT
glutamic--pyruvic transaminase
ISO
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy
ClinVar
PMID:28492532
NCBI chr13:37,923,757...37,927,843
Ensembl chr13:37,924,422...37,926,156
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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 PMID:28492532 PMID:28824526 More...
NCBI chr13:37,512,129...37,514,303
Ensembl chr13:37,512,217...37,514,257
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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 PMID:28492532 PMID:28824526 More...
NCBI chr13:37,221,219...37,226,912
Ensembl chr13:37,193,022...37,228,360
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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 PMID:28492532 PMID:28824526 More...
NCBI chr13:37,621,587...37,624,523
Ensembl chr13:37,621,605...37,623,973
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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 PMID:28492532 PMID:28824526 More...
NCBI chr13:37,724,741...37,745,259
Ensembl chr13:37,724,759...37,745,252
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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 PMID:28492532 PMID:28824526 More...
NCBI chr13:37,875,611...37,883,166
Ensembl chr13:37,875,998...37,882,974
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LOC100684332
glycosyl-phosphatidylinositol-anchored molecule-like protein
ISO
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy
ClinVar
PMID:28492532
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LY6D
lymphocyte antigen 6 family member D
ISO
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy
ClinVar
PMID:28492532
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LY6E
lymphocyte antigen 6 family member E
ISO
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy
ClinVar
PMID:28492532
NCBI chr13:36,926,776...36,930,265
Ensembl chr13:36,925,980...36,974,979
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LY6H
lymphocyte antigen 6 family member H
ISO
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy
ClinVar
PMID:28492532
NCBI chr13:36,984,864...36,987,176
Ensembl chr13:36,984,853...36,987,118
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LYPD2
LY6/PLAUR domain containing 2
ISO
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy
ClinVar
PMID:28492532
NCBI chr13:36,794,662...36,796,706
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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 PMID:28492532 PMID:28824526 More...
NCBI chr13:37,598,819...37,601,713
Ensembl chr13:37,598,600...37,601,591
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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 PMID:28492532 PMID:28824526 More...
NCBI chr13:37,122,653...37,123,895
Ensembl chr13:37,122,731...37,123,771
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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 PMID:28492532 PMID:28824526 More...
NCBI chr13:37,317,061...37,322,792
Ensembl chr13:37,316,424...37,322,792
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MFSD3
major facilitator superfamily domain containing 3
ISO
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy
ClinVar
PMID:28492532
NCBI chr13:37,928,890...37,930,828
Ensembl chr13:37,928,996...37,934,233
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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 PMID:28492532 PMID:28824526 More...
NCBI chr13:37,645,810...37,698,550
Ensembl chr13:37,645,876...37,698,342
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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 PMID:28492532 PMID:28824526 More...
NCBI chr13:37,229,270...37,234,677
Ensembl chr13:37,229,886...37,234,609
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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 PMID:28492532 PMID:28824526 More...
NCBI chr13:37,235,985...37,239,261
Ensembl chr13:37,235,045...37,239,224
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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 PMID:28492532 PMID:28824526 More...
NCBI chr13:37,391,385...37,398,691
Ensembl chr13:37,392,436...37,398,076
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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 PMID:28492532 PMID:28824526 More...
NCBI chr13:37,555,035...37,564,241
Ensembl chr13:37,555,045...37,564,810
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PLEC
plectin
ISO
ClinVar Annotator: match by term: Epidermolysa bullosa simplex and limb girdle muscular dystrophy | ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy | ClinVar Annotator: match by term: Epidermolysis bullosa simplex with muscular dystrophy
OMIM ClinVar
PMID:8696340 PMID:8830774 PMID:8894687 PMID:9536098 PMID:9886273 PMID:10446808 PMID:10652001 PMID:10652002 PMID:11851880 PMID:12071635 PMID:15206692 PMID:15654962 PMID:15659326 PMID:15810881 PMID:16199547 PMID:17576681 PMID:18414213 PMID:19945614 PMID:20016501 PMID:20052759 PMID:20301336 PMID:20447487 PMID:20665883 PMID:21109228 PMID:21263134 PMID:22144912 PMID:22854623 PMID:22864774 PMID:23289980 PMID:23757202 PMID:23774525 PMID:24033266 PMID:24253200 PMID:25454730 PMID:25640679 PMID:25741868 PMID:25987458 PMID:26467025 PMID:26498160 PMID:27234031 PMID:27392081 PMID:27813154 PMID:28400893 PMID:28447722 PMID:28492532 PMID:28824526 PMID:28830826 PMID:29050564 PMID:29334134 PMID:29352809 PMID:29453417 PMID:29797489 PMID:29970176 PMID:30161220 PMID:30293987 PMID:30691450 PMID:30919572 PMID:31001817 PMID:31066050 PMID:31230720 PMID:31269534 PMID:31319225 PMID:31509265 PMID:31513275 PMID:31517061 PMID:31641117 PMID:31862442 PMID:32017015 PMID:32576226 PMID:32707200 PMID:32725257 PMID:33057194 PMID:34046686 PMID:34572129 PMID:35579050 PMID:35670010 PMID:35815343 PMID:35982159 PMID:38818036 More...
NCBI chr13:37,449,379...37,503,752
Ensembl chr13:37,450,248...37,513,523
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PPP1R16A
protein phosphatase 1 regulatory subunit 16A
ISO
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy
ClinVar
PMID:28492532
NCBI chr13:37,887,415...37,922,710
Ensembl chr13:37,914,076...37,922,751
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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 PMID:28492532 PMID:28824526 More...
NCBI chr13:37,375,781...37,387,969
Ensembl chr13:37,375,651...37,387,875
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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 PMID:28492532 PMID:28824526 More...
NCBI chr13:37,259,139...37,264,337
Ensembl chr13:37,259,139...37,264,337
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RECQL4
RecQ like helicase 4
ISO
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy
ClinVar
PMID:28492532
NCBI chr13:37,930,906...37,936,653
Ensembl chr13:37,930,621...37,936,753
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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 PMID:28492532 PMID:28824526 More...
NCBI chr13:37,081,527...37,090,628
Ensembl chr13:37,046,923...37,090,922
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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 PMID:28492532 PMID:28824526 More...
NCBI chr13:37,356,405...37,374,765
Ensembl chr13:37,356,405...37,374,681
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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 PMID:28492532 PMID:28824526 More...
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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 PMID:28492532 PMID:28824526 More...
NCBI chr13:37,701,781...37,704,949
Ensembl chr13:37,703,232...37,704,657
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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 PMID:28492532 PMID:28824526 More...
NCBI chr13:37,594,155...37,598,510
Ensembl chr13:37,594,203...37,599,456
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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 PMID:28492532 PMID:28824526 More...
NCBI chr13:37,833,073...37,838,304
Ensembl chr13:37,833,156...37,838,522
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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 PMID:28492532 PMID:28824526 More...
NCBI chr13:37,779,896...37,786,653
Ensembl chr13:37,783,562...37,786,621
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SLURP1
secreted LY6/PLAUR domain containing 1
ISO
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy
ClinVar
PMID:28492532
NCBI chr13:36,789,738...36,791,013
Ensembl chr13:36,789,721...36,796,831
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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 PMID:28492532 PMID:28824526 More...
NCBI chr13:37,530,211...37,550,797
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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 PMID:28492532 PMID:28824526 More...
NCBI chr13:37,254,327...37,258,521
Ensembl chr13:37,254,327...37,256,279
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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 PMID:28492532 PMID:28824526 More...
NCBI chr13:37,778,698...37,780,774
Ensembl chr13:37,778,730...37,780,385
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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 PMID:28492532 PMID:28824526 More...
NCBI chr13:37,846,010...37,857,633
Ensembl chr13:37,846,149...37,857,668
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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 PMID:28492532 PMID:28824526 More...
NCBI chr13:37,841,524...37,845,954
Ensembl chr13:37,841,518...37,846,339
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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 PMID:28492532 PMID:28824526 More...
NCBI chr13:37,128,915...37,214,643
Ensembl chr13:37,130,999...37,214,997
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ZFP41
ZFP41 zinc finger protein
ISO
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy
ClinVar
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
NCBI chr13:37,015,733...37,027,459
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ZNF623
zinc finger protein 623
ISO
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy
ClinVar
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
NCBI chr13:37,280,457...37,291,676
Ensembl chr13:37,287,946...37,289,442
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ZNF696
zinc finger protein 696
ISO
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy
ClinVar
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
NCBI chr13:37,047,297...37,067,493
Ensembl chr13:37,046,923...37,090,922
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COL7A1
collagen type VII alpha 1 chain
ISO
ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA DYSTROPHICA, BART TYPE
OMIM ClinVar
PMID:2425097 PMID:5910871 PMID:7695699 PMID:7833933 PMID:8088783 PMID:8218237 PMID:8618021 PMID:8644730 PMID:8752681 PMID:8755915 PMID:9242516 PMID:9326325 PMID:9536098 PMID:9666834 PMID:9804332 PMID:9881948 PMID:10383749 PMID:10408773 PMID:10504458 PMID:10836608 PMID:11710955 PMID:11781296 PMID:11843659 PMID:12207583 PMID:12485454 PMID:12787275 PMID:12813757 PMID:15816848 PMID:15888141 PMID:16199547 PMID:16271705 PMID:16965329 PMID:16971478 PMID:17425959 PMID:17576681 PMID:18429782 PMID:18440202 PMID:18951764 PMID:19344236 PMID:19665875 PMID:19681861 PMID:20357813 PMID:20598510 PMID:20920254 PMID:21448560 PMID:21471992 PMID:22058051 PMID:22266148 PMID:23237810 PMID:23947675 PMID:24032424 PMID:24033266 PMID:24210835 PMID:24599399 PMID:24947307 PMID:25201089 PMID:25525159 PMID:25741868 PMID:26076072 PMID:26102279 PMID:26148662 PMID:26446410 PMID:26467025 PMID:26763448 PMID:27153395 PMID:27899325 PMID:28492532 PMID:28830826 PMID:29473190 PMID:29963685 PMID:30280950 PMID:31001817 PMID:31670143 PMID:31930626 PMID:32383240 PMID:32860008 PMID:33587123 PMID:34435747 PMID:35979658 PMID:36287101 More...
NCBI chr20:40,519,121...40,550,305
Ensembl chr20:40,519,378...40,552,935
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DSP
desmoplakin
ISO
ClinVar Annotator: match by term: Lethal acantholytic epidermolysis bullosa
OMIM ClinVar
PMID:2450378 PMID:3198322 PMID:9536098 PMID:10395892 PMID:12101406 PMID:12802069 PMID:15210133 PMID:15941723 PMID:16175511 PMID:16199547 PMID:16774985 PMID:16917092 PMID:17576681 PMID:18382419 PMID:18632414 PMID:19597050 PMID:19863551 PMID:19924139 PMID:20031617 PMID:20129281 PMID:20152563 PMID:20302578 PMID:20400443 PMID:20435227 PMID:20524011 PMID:20525856 PMID:20613772 PMID:20716751 PMID:20738328 PMID:20829228 PMID:20857253 PMID:20864495 PMID:21062920 PMID:21264154 PMID:21397041 PMID:21606390 PMID:21606396 PMID:21636032 PMID:21723241 PMID:21756917 PMID:21859740 PMID:22214898 PMID:22216297 PMID:22995991 PMID:23137101 PMID:23292937 PMID:23299917 PMID:23381804 PMID:23396983 PMID:23465283 PMID:23514727 PMID:23524727 PMID:23651034 PMID:23671136 PMID:23861362 PMID:23891292 PMID:23911551 PMID:24033266 PMID:24055113 PMID:24070718 PMID:24125834 PMID:24448499 PMID:24503780 PMID:24825141 PMID:24981977 PMID:25163546 PMID:25196244 PMID:25225338 PMID:25227139 PMID:25351510 PMID:25447171 PMID:25516398 PMID:25525159 PMID:25550050 PMID:25569433 PMID:25616645 PMID:25637381 PMID:25661095 PMID:25676813 PMID:25691752 PMID:25693453 PMID:25741868 PMID:25765472 PMID:25819062 PMID:25820315 PMID:25856671 PMID:25979592 PMID:26073755 PMID:26099957 PMID:26138720 PMID:26187847 PMID:26220970 PMID:26230511 PMID:26272908 PMID:26332594 PMID:26383259 PMID:26399581 PMID:26498160 PMID:26569459 PMID:26585738 PMID:26604139 PMID:26606670 PMID:26656175 PMID:26675346 PMID:26743238 PMID:26833927 PMID:26899768 PMID:27000522 PMID:27054166 PMID:27097650 PMID:27135274 PMID:27153395 PMID:27194543 PMID:27329731 PMID:27332903 PMID:27435932 PMID:27532257 PMID:27698334 PMID:27707468 PMID:27884173 PMID:27930701 PMID:28008423 PMID:28045975 PMID:28074886 PMID:28087426 PMID:28254189 PMID:28255936 PMID:28288337 PMID:28301460 PMID:28341588 PMID:28416588 PMID:28471438 PMID:28473349 PMID:28492532 PMID:28527814 PMID:28600387 PMID:28611029 PMID:28759816 PMID:28790152 PMID:28798025 PMID:29062697 PMID:29095814 PMID:29178656 PMID:29192238 PMID:29247119 PMID:29253866 PMID:29511324 PMID:29590070 PMID:29606362 PMID:29607617 PMID:29618732 PMID:29633331 PMID:29750433 PMID:29759408 PMID:29802319 PMID:29885824 PMID:29915098 PMID:30086531 PMID:30165862 PMID:30276209 PMID:30354334 PMID:30382575 PMID:30398466 PMID:30615648 PMID:30685992 PMID:30699244 PMID:30731207 PMID:30775854 PMID:30820396 PMID:30847666 PMID:30919684 PMID:30975432 PMID:31073624 PMID:31110529 PMID:31114860 PMID:31118017 PMID:31333075 PMID:31378211 PMID:31402444 PMID:31514951 PMID:31534214 PMID:31568572 PMID:31638414 PMID:31737537 PMID:31770195 PMID:31785789 PMID:31983221 PMID:32114801 PMID:32277046 PMID:32372669 PMID:32516855 PMID:32600061 PMID:32659924 PMID:32746448 PMID:32826072 PMID:32879264 PMID:32880476 PMID:32931854 PMID:32942234 PMID:32969603 PMID:33029862 PMID:33082984 PMID:33232181 PMID:33313835 PMID:33500567 PMID:33552729 PMID:33652588 PMID:33684294 PMID:33722762 PMID:33762593 PMID:33857019 PMID:33874732 PMID:33996946 PMID:34026522 PMID:34033898 PMID:34290054 PMID:34298581 PMID:34317553 PMID:34352074 PMID:34389451 PMID:34815391 PMID:34935411 PMID:35008956 PMID:35026164 PMID:35087879 PMID:35444050 PMID:35581137 PMID:35819174 PMID:36178741 PMID:36431211 PMID:36672924 PMID:36768812 PMID:36868229 PMID:37589201 PMID:37904629 PMID:37936624 PMID:37937776 More...
NCBI chr35:7,479,628...7,524,732
Ensembl chr35:7,479,643...7,524,044
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CD40
CD40 molecule
ISO
RGD
PMID:18050371
RGD:8547765
NCBI chr24:33,352,992...33,383,488
Ensembl chr24:33,372,930...33,383,301
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CD40LG
CD40 ligand
ISO
RGD
PMID:18050371
RGD:8547765
NCBI chr X:107,001,421...107,023,007
Ensembl chr X:107,010,890...107,023,006
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CD8A
CD8 subunit alpha
susceptibility
ISO
associated with adult T-cell leukemia;mRNA:increased expression:blood (human)
RGD
PMID:32433748
RGD:124715447
NCBI chr17:38,396,022...38,400,508
Ensembl chr17:38,369,414...38,400,508
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DLA-DQB1
major histocompatibility complex, class II, DQ beta 1
ISO
DNA:polymorphisms (human)
RGD
PMID:9627123
RGD:5147868
NCBI chr12:2,305,307...2,307,711
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MASP2
MBL associated serine protease 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12904520
NCBI chr 2:84,976,366...84,987,376
Ensembl chr 2:84,976,456...84,989,797
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VEGFA
vascular endothelial growth factor A
ISO
mRNA:increased expression: :
RGD
PMID:7738351
RGD:7421578
NCBI chr12:12,209,032...12,224,978
Ensembl chr12:12,208,231...12,224,965
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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 PMID:30120936 PMID:30226531 PMID:30715372 PMID:34292882 PMID:34740256 PMID:35975634 More...
NCBI chr34:16,583,683...16,625,778
Ensembl chr34:16,590,368...16,621,041
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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 PMID:10583131 PMID:10733662 PMID:11331879 PMID:11710919 PMID:11990248 PMID:16098032 PMID:16960809 PMID:18717745 PMID:20151404 PMID:20301543 PMID:21623745 PMID:25326635 PMID:25741868 PMID:26743602 PMID:28492532 PMID:31957133 More...
NCBI chr 9:21,190,672...21,195,060
Ensembl chr 9:21,156,045...21,265,564
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KRT81
keratin 81
ISO
ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Koebner type
ClinVar
PMID:7520042 PMID:8807337 PMID:20199538 PMID:25741868
NCBI chr27:2,776,693...2,782,016
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DST
dystonin
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr12:23,715,637...24,195,220
Ensembl chr12:23,716,466...24,195,416
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KRT14
keratin 14
ISO
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive
OMIM ClinVar
PMID:7525407 PMID:7525408 PMID:7526933 PMID:8875963 PMID:10971341 PMID:16614722 PMID:25741868 PMID:27283507 PMID:28492532 PMID:28830826 PMID:29130490 More...
NCBI chr 9:21,190,672...21,195,060
Ensembl chr 9:21,156,045...21,265,564
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KRT81
keratin 81
ISO
ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX 1D, GENERALIZED, INTERMEDIATE OR SEVERE, AUTOSOMAL RECESSIVE
ClinVar
PMID:7520042 PMID:8807337 PMID:25741868
NCBI chr27:2,776,693...2,782,016
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KRT81
keratin 81
ISO
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 2B, generalized intermediate
OMIM ClinVar
PMID:1718160 PMID:7534039 PMID:7686424 PMID:9740251 PMID:10354017 PMID:11407988 PMID:11407989 PMID:16439963 PMID:16882168 PMID:17039244 PMID:17549391 PMID:20301543 PMID:21375516 PMID:23746086 PMID:25017986 PMID:25741868 PMID:28492532 PMID:28561874 PMID:34680898 More...
NCBI chr27:2,776,693...2,782,016
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KRT81
keratin 81
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 chr27:2,776,693...2,782,016
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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 PMID:30120936 PMID:30226531 PMID:30715372 PMID:31649980 PMID:34292882 PMID:34740256 PMID:35975634 More...
NCBI chr34:16,583,683...16,625,778
Ensembl chr34:16,590,368...16,621,041
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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 PMID:10730767 PMID:10733662 PMID:11331879 PMID:11710919 PMID:16098032 PMID:16439965 PMID:16960809 PMID:18717745 PMID:20151404 PMID:20301543 PMID:21623745 PMID:25326635 PMID:25741868 PMID:26432462 PMID:26743602 PMID:27283507 PMID:28492532 PMID:31957133 More...
NCBI chr 9:21,190,672...21,195,060
Ensembl chr 9:21,156,045...21,265,564
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KRT81
keratin 81
ISO
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 1A, generalized severe
ClinVar
PMID:7520042 PMID:8807337 PMID:9036937 PMID:10354017 PMID:10730767 PMID:16098032 PMID:16439963 PMID:16601668 PMID:16882168 PMID:17549391 PMID:20030639 PMID:20301543 PMID:21375516 PMID:23746086 PMID:25017986 PMID:25741868 PMID:26743602 PMID:28492532 PMID:28561874 PMID:30515866 PMID:31579952 More...
NCBI chr27:2,776,693...2,782,016
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KRT81
keratin 81
ISO
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 2A, generalized severe
OMIM ClinVar
PMID:1372711 PMID:8757772 PMID:9036937 PMID:10234505 PMID:10383750 PMID:16098032 PMID:16601668 PMID:16882168 PMID:17855059 PMID:20030639 PMID:20199538 PMID:20301543 PMID:25741868 PMID:26743602 PMID:28492532 PMID:28561874 PMID:29932457 PMID:30515866 PMID:31001817 PMID:31579952 More...
NCBI chr27:2,776,693...2,782,016
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ATP2C1
ATPase secretory pathway Ca2+ transporting 1
ISO
ClinVar Annotator: match by term: ATP2C1-related condition | ClinVar Annotator: match by term: Familial benign pemphigus
OMIM ClinVar
PMID:3978039 PMID:10615129 PMID:10767338 PMID:11874499 PMID:15545997 PMID:21883398 PMID:25741868 PMID:28492532 More...
NCBI chr23:28,097,831...28,233,675
Ensembl chr23:28,066,639...28,235,215
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DSC3
desmocollin 3
ISO
ClinVar Annotator: match by term: DSC3-related condition | ClinVar Annotator: match by term: Hypotrichosis and recurrent skin vesicles
OMIM ClinVar
PMID:19765682 PMID:25741868 PMID:31790667
NCBI chr 7:58,412,769...58,457,593
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COL17A1
collagen type XVII alpha 1 chain
susceptibility
ISO
ClinVar Annotator: match by term: Junctional epidermolysis bullosa
RGD ClinVar
PMID:7550320 PMID:9199555 PMID:9740252 PMID:10398261 PMID:10577906 PMID:10636730 PMID:11406649 PMID:11851893 PMID:14614394 PMID:16199547 PMID:16473856 PMID:17344927 PMID:20301304 PMID:21357940 PMID:24319098 PMID:25741868 PMID:28492532 PMID:30673110 PMID:33393081 More...
RGD:1600884
NCBI chr28:16,349,926...16,402,213
Ensembl chr28:16,350,564...16,402,056
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GALK1
galactokinase 1
ISO
ClinVar Annotator: match by term: Junctional epidermolysis bullosa
ClinVar
PMID:9792864 PMID:11886501
NCBI chr 9:4,818,558...4,824,845
Ensembl chr 9:4,805,650...4,833,503
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ITGA6
integrin subunit alpha 6
ISO
ClinVar Annotator: match by term: Junctional epidermolysis bullosa
ClinVar
PMID:21357940 PMID:25741868
NCBI chr36:16,777,363...16,858,725
Ensembl chr36:16,776,863...16,855,449
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ITGB4
integrin subunit beta 4
ISO
ClinVar Annotator: match by term: Junctional epidermolysis bullosa
ClinVar
PMID:9792864 PMID:11886501
NCBI chr 9:4,825,148...4,855,266
Ensembl chr 9:4,825,292...4,855,820
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LAMA3
laminin subunit alpha 3
IAGP ISO
Epidermolysis bullosa, junctionalis, LAMA3-related ClinVar Annotator: match by term: Junctional epidermolysis bullosa
OMIA ClinVar
PMID:9349347 PMID:9536098 PMID:10366601 PMID:11810295 PMID:11907499 PMID:12915477 PMID:15538630 PMID:15737193 PMID:16473856 PMID:17362460 PMID:17576681 PMID:17916201 PMID:21257512 PMID:22434185 PMID:23869449 PMID:25741868 PMID:27827380 PMID:28087116 PMID:28492532 PMID:34250689 PMID:34457315 PMID:34644840 PMID:36006348 More...
NCBI chr 7:64,405,719...64,654,910
Ensembl chr 7:64,406,082...64,655,268
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LAMB3
laminin subunit beta 3
susceptibility
ISO
DNA:nonsense mutation ClinVar Annotator: match by term: Junctional epidermolysis bullosa
RGD ClinVar
PMID:7550237 PMID:7698759 PMID:7706760 PMID:8824879 PMID:8983017 PMID:9038345 PMID:9205497 PMID:9242513 PMID:9326326 PMID:9501007 PMID:9536098 PMID:9690563 PMID:9767254 PMID:9856855 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:16199547 PMID:16473856 PMID:17476356 PMID:17576681 PMID:17916201 PMID:19369679 PMID:20301304 PMID:20574443 PMID:21801158 PMID:22931927 PMID:24033266 PMID:24617447 PMID:24947307 PMID:25525159 PMID:25708563 PMID:25741868 PMID:25950805 PMID:27062385 PMID:27375110 PMID:27480391 PMID:28087116 PMID:28492532 PMID:28561256 PMID:28830826 PMID:29334134 PMID:29364557 PMID:29900604 PMID:30046887 PMID:32484238 PMID:33274474 PMID:34231856 PMID:34539738 PMID:36246619 More...
RGD:1600209
NCBI chr 7:8,272,326...8,313,322
Ensembl chr 7:8,272,736...8,310,474
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LAMC2
laminin subunit gamma 2
susceptibility
ISO
DNA:splice-site mutation, deletion-insertion ClinVar Annotator: match by term: Junctional epidermolysis bullosa
RGD ClinVar
PMID:8012393 PMID:9856849 PMID:11231327 PMID:11810295 PMID:11907499 PMID:15370542 PMID:15373767 PMID:15538630 PMID:16473856 PMID:17916201 PMID:21198797 PMID:21801158 PMID:25741868 PMID:26739954 PMID:28492532 PMID:28830826 PMID:31395954 PMID:31980526 More...
RGD:1600210
NCBI chr 7:16,543,541...16,625,304
Ensembl chr 7:16,569,086...16,624,085
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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 PMID:16473856 PMID:17344927 PMID:20301304 PMID:21357940 PMID:24319098 PMID:24668667 PMID:24814191 PMID:25741868 PMID:25803036 PMID:28492532 More...
NCBI chr28:16,349,926...16,402,213
Ensembl chr28:16,350,564...16,402,056
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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 PMID:22434185 PMID:23869449 PMID:25741868 PMID:27827380 PMID:28087116 PMID:28492532 More...
NCBI chr 7:64,405,719...64,654,910
Ensembl chr 7:64,406,082...64,655,268
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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 PMID:9205497 PMID:9242513 PMID:9767254 PMID:9856855 PMID:10577906 PMID:11023379 PMID:11298117 PMID:11451332 PMID:11689492 PMID:15311214 PMID:15373767 PMID:15538630 PMID:15663509 PMID:16439963 PMID:16473856 PMID:17476356 PMID:20301304 PMID:21801158 PMID:25708563 PMID:25741868 PMID:27062385 PMID:27375110 PMID:27480391 PMID:28492532 PMID:28830826 PMID:30544381 More...
NCBI chr 7:8,272,326...8,313,322
Ensembl chr 7:8,272,736...8,310,474
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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 PMID:17362460 PMID:17576681 PMID:22434185 PMID:23869449 PMID:25525159 PMID:25741868 PMID:27827380 PMID:28087116 PMID:28492532 PMID:33274474 More...
NCBI chr 7:64,405,719...64,654,910
Ensembl chr 7:64,406,082...64,655,268
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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 PMID:9205497 PMID:9242513 PMID:9767254 PMID:9856855 PMID:10577906 PMID:11023379 PMID:11298117 PMID:11451332 PMID:11689492 PMID:15311214 PMID:15373767 PMID:15538630 PMID:15663509 PMID:16439963 PMID:16473856 PMID:17476356 PMID:20301304 PMID:21801158 PMID:25708563 PMID:25741868 PMID:27062385 PMID:27375110 PMID:27480391 PMID:28492532 PMID:28830826 PMID:30544381 More...
NCBI chr 7:8,272,326...8,313,322
Ensembl chr 7:8,272,736...8,310,474
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LAMC2
laminin subunit gamma 2
ISO
ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 1B, SEVERE
ClinVar
PMID:11907499 PMID:16199547 PMID:16473856 PMID:25741868 PMID:28492532
NCBI chr 7:16,543,541...16,625,304
Ensembl chr 7:16,569,086...16,624,085
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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 PMID:17362460 PMID:22434185 PMID:23869449 PMID:25741868 PMID:27827380 PMID:28087116 PMID:28492532 More...
NCBI chr 7:64,405,719...64,654,910
Ensembl chr 7:64,406,082...64,655,268
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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 PMID:8983017 PMID:10366601 PMID:11810295 PMID:12915477 PMID:16473856 PMID:17362460 PMID:22434185 PMID:23869449 PMID:25741868 PMID:27827380 PMID:28087116 PMID:28492532 More...
NCBI chr 7:64,405,719...64,654,910
Ensembl chr 7:64,406,082...64,655,268
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LAMA3
laminin subunit alpha 3
ISO
ClinVar Annotator: match by term: Laryngo-onycho-cutaneous syndrome
OMIM ClinVar
PMID:7633458 PMID:8530087 PMID:8618022 PMID:8824879 PMID:8983017 PMID:9536098 PMID:10366601 PMID:11810295 PMID:12915477 PMID:16199547 PMID:16473856 PMID:17362460 PMID:17576681 PMID:22434185 PMID:23869449 PMID:24033266 PMID:25363238 PMID:25741868 PMID:26635394 PMID:27827380 PMID:28087116 PMID:28492532 PMID:35314946 More...
NCBI chr 7:64,405,719...64,654,910
Ensembl chr 7:64,406,082...64,655,268
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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 PMID:16473856 PMID:25741868 PMID:28492532 PMID:28830826 More...
NCBI chr 7:16,543,541...16,625,304
Ensembl chr 7:16,569,086...16,624,085
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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 PMID:8983017 PMID:9085255 PMID:10951251 PMID:11810295 PMID:11907499 PMID:15373767 PMID:16473856 PMID:17916201 PMID:20301304 PMID:25741868 PMID:28492532 More...
NCBI chr 7:16,543,541...16,625,304
Ensembl chr 7:16,569,086...16,624,085
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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 PMID:9199555 PMID:9204958 PMID:9457913 PMID:9457914 PMID:9536098 PMID:9583744 PMID:9740252 PMID:10398261 PMID:10577906 PMID:10636730 PMID:10951237 PMID:11406649 PMID:11851893 PMID:14614394 PMID:16199547 PMID:16354180 PMID:16473856 PMID:17344927 PMID:17576681 PMID:19340010 PMID:20301304 PMID:21357940 PMID:21466533 PMID:23550562 PMID:24005051 PMID:24319098 PMID:24668667 PMID:24814191 PMID:25741868 PMID:25803036 PMID:26604146 PMID:28492532 PMID:33274474 More...
NCBI chr28:16,349,926...16,402,213
Ensembl chr28:16,350,564...16,402,056
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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 PMID:16199547 PMID:16473856 PMID:17576681 PMID:25741868 PMID:28492532 More...
NCBI chr 9:4,818,558...4,824,845
Ensembl chr 9:4,805,650...4,833,503
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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 PMID:12485428 PMID:15009117 PMID:16199547 PMID:16473856 PMID:17576681 PMID:25741868 PMID:28492532 PMID:30011071 More...
NCBI chr 9:4,825,148...4,855,266
Ensembl chr 9:4,825,292...4,855,820
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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 PMID:26633545 PMID:28492532 PMID:29127259 More...
NCBI chr 9:26,065,792...26,095,649
Ensembl chr 9:26,062,393...26,094,422
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ITGA6
integrin subunit alpha 6
ISO
OMIM:226700
MouseDO
NCBI chr36:16,777,363...16,858,725
Ensembl chr36:16,776,863...16,855,449
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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 PMID:9536098 PMID:10366601 PMID:11810295 PMID:12915477 PMID:12943669 PMID:15373767 PMID:16199547 PMID:16473856 PMID:16971478 PMID:17362460 PMID:17576681 PMID:22434185 PMID:23869449 PMID:24033266 PMID:25363238 PMID:25525159 PMID:25741868 PMID:26635394 PMID:27375110 PMID:27827380 PMID:28087116 PMID:28492532 PMID:33274474 More...
NCBI chr 7:64,405,719...64,654,910
Ensembl chr 7:64,406,082...64,655,268
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LAMB3
laminin subunit beta 3
ISO
ClinVar Annotator: match by term: Herlitz-Pearson type epidermolysis bullosa | ClinVar Annotator: match by term: Herlitz-type junctional epidermolysis bullosa | ClinVar Annotator: match by term: Junctional epidermolysis bullosa gravis of Herlitz
ClinVar
PMID:7550237 PMID:7698759 PMID:7706760 PMID:8362910 PMID:8541876 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:9856855 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:16199547 PMID:16403119 PMID:16439963 PMID:16473856 PMID:16971478 PMID:17476356 PMID:20301304 PMID:21801158 PMID:22931927 PMID:23278291 PMID:24033266 PMID:24617447 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:29364557 PMID:29900604 PMID:30544381 PMID:32484238 PMID:34231856 More...
NCBI chr 7:8,272,326...8,313,322
Ensembl chr 7:8,272,736...8,310,474
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LAMC2
laminin subunit gamma 2
ISO
ClinVar Annotator: match by term: Herlitz-Pearson type epidermolysis bullosa | ClinVar Annotator: match by term: Herlitz-type junctional epidermolysis bullosa | ClinVar Annotator: match by term: Junctional epidermolysis bullosa gravis of Herlitz
ClinVar
PMID:7849725 PMID:8012114 PMID:8012393 PMID:8012394 PMID:8824879 PMID:8983017 PMID:9085255 PMID:11231327 PMID:11564184 PMID:11907499 PMID:15373767 PMID:16199547 PMID:16473856 PMID:17916201 PMID:20301304 PMID:25741868 PMID:27696112 PMID:28492532 PMID:31395954 More...
NCBI chr 7:16,543,541...16,625,304
Ensembl chr 7:16,569,086...16,624,085
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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 PMID:26598494 PMID:28116237 PMID:28492532 PMID:29655203 PMID:34135856 More...
NCBI chr15:463,307...493,145
Ensembl chr15:463,237...493,140
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COL17A1
collagen type XVII alpha 1 chain
ISO
ClinVar Annotator: match by term: Junctional epidermolysis bullosa, non-Herlitz type
ClinVar
PMID:9077475 PMID:9204958 PMID:9536098 PMID:9583744 PMID:10636730 PMID:11406649 PMID:12813757 PMID:14614394 PMID:16199547 PMID:16354180 PMID:16473856 PMID:17344927 PMID:17576681 PMID:19340010 PMID:20301304 PMID:21357940 PMID:24033266 PMID:24319098 PMID:24668667 PMID:24814191 PMID:25741868 PMID:25803036 PMID:28492532 PMID:28813618 PMID:33274474 More...
NCBI chr28:16,349,926...16,402,213
Ensembl chr28:16,350,564...16,402,056
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GALK1
galactokinase 1
ISO
ClinVar Annotator: match by term: Junctional epidermolysis bullosa, non-Herlitz type
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 9:4,818,558...4,824,845
Ensembl chr 9:4,805,650...4,833,503
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ITGB4
integrin subunit beta 4
ISO
ClinVar Annotator: match by term: Junctional epidermolysis bullosa, non-Herlitz type
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 9:4,825,148...4,855,266
Ensembl chr 9:4,825,292...4,855,820
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LAMA3
laminin subunit alpha 3
ISO
ClinVar Annotator: match by term: Epidermolysis bullosa junctionalis, disentis type | ClinVar Annotator: match by term: Junctional epidermolysis bullosa, non-Herlitz type
ClinVar
PMID:10366601 PMID:11810295 PMID:12915477 PMID:16473856 PMID:17362460 PMID:22434185 PMID:23869449 PMID:24033266 PMID:25363238 PMID:25741868 PMID:27827380 PMID:28087116 PMID:28492532 More...
NCBI chr 7:64,405,719...64,654,910
Ensembl chr 7:64,406,082...64,655,268
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LAMB3
laminin subunit beta 3
ISO
ClinVar Annotator: match by term: Junctional epidermolysis bullosa, non-Herlitz type ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA JUNCTIONALIS, SEVERE NONLETHAL | ClinVar Annotator: match by term: Epidermolysis bullosa junctionalis, disentis type | ClinVar Annotator: match by term: Junctional epidermolysis bullosa, non-Herlitz type
ClinVar
PMID:7550237 PMID:7698759 PMID:7706760 PMID:8824879 PMID:8983017 PMID:9038345 PMID:9205497 PMID:9242513 PMID:9501007 PMID:9536098 PMID:9690563 PMID:9767254 PMID:9856855 PMID:10577906 PMID:11023379 PMID:11298117 PMID:11451332 PMID:11689492 PMID:12813757 PMID:15311214 PMID:15373767 PMID:15538630 PMID:15663509 PMID:15725250 PMID:16199547 PMID:16439963 PMID:16473856 PMID:17115047 PMID:17476356 PMID:17576681 PMID:19369679 PMID:20301304 PMID:20574443 PMID:21801158 PMID:22931927 PMID:23278291 PMID:24617447 PMID:25708563 PMID:25741868 PMID:25950805 PMID:27062385 PMID:27120332 PMID:27375110 PMID:27480391 PMID:28087116 PMID:28492532 PMID:28561256 PMID:28830826 PMID:29334134 PMID:29900604 PMID:30046887 PMID:30544381 PMID:33274474 More...
NCBI chr 7:8,272,326...8,313,322
Ensembl chr 7:8,272,736...8,310,474
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LAMC2
laminin subunit gamma 2
ISO
ClinVar Annotator: match by term: Junctional epidermolysis bullosa, non-Herlitz type
ClinVar
PMID:11564184 PMID:25741868 PMID:27375110 PMID:28492532
NCBI chr 7:16,543,541...16,625,304
Ensembl chr 7:16,569,086...16,624,085
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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 PMID:11886501 PMID:12485428 PMID:16199547 PMID:16473856 PMID:17576681 PMID:18955862 PMID:20301304 PMID:22674212 PMID:23496044 PMID:25741868 PMID:28492532 PMID:33274474 More...
NCBI chr 9:4,818,558...4,824,845
Ensembl chr 9:4,805,650...4,833,503
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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: Junctional epidermolysis bullosa with pyloric atresia
OMIM ClinVar
PMID:9158140 PMID:9185503 PMID:9804362 PMID:14675179 PMID:23496044 PMID:25741868 PMID:27607025 PMID:28492532 More...
NCBI chr36:16,777,363...16,858,725
Ensembl chr36:16,776,863...16,855,449
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ITGB4
integrin subunit beta 4
ISO
ClinVar Annotator: match by term: ITGB4-related condition | ClinVar Annotator: match by term: Junctional epidermolysis bullosa with pyloric atresia
OMIM ClinVar
PMID:6177243 PMID:7545057 PMID:9422533 PMID:9536098 PMID:9546354 PMID:9674902 PMID:9792864 PMID:9892956 PMID:10484780 PMID:11251584 PMID:11328943 PMID:11886501 PMID:12485428 PMID:15009117 PMID:16199547 PMID:16473856 PMID:17576681 PMID:18348258 PMID:18955862 PMID:20301304 PMID:20301336 PMID:22674212 PMID:23013259 PMID:23496044 PMID:24033266 PMID:25741868 PMID:26739954 PMID:28492532 PMID:30011071 PMID:33274474 PMID:33937469 PMID:34046686 PMID:34597860 PMID:35432467 More...
NCBI chr 9:4,825,148...4,855,266
Ensembl chr 9:4,825,292...4,855,820
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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 PMID:25999546 PMID:26969326 PMID:28492532 PMID:30582396 PMID:33279834 PMID:33297549 More...
NCBI chr12:37,359,200...37,502,342
Ensembl chr12:37,413,570...37,500,724
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PLEC
plectin
ISO
ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5B, WITH PYLORIC ATRESIA | ClinVar Annotator: match by term: Junctional epidermolysis bullosa with pyloric atresia
ClinVar
PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532
NCBI chr13:37,449,379...37,503,752
Ensembl chr13:37,450,248...37,513,523
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FERMT1
FERM domain containing kindlin 1
ISO
ClinVar Annotator: match by term: FERMT1-related condition | ClinVar Annotator: match by term: Kindler syndrome
OMIM ClinVar
PMID:12668616 PMID:12789646 PMID:14507403 PMID:14962093 PMID:15313809 PMID:16199547 PMID:16675959 PMID:16702500 PMID:17178989 PMID:17460733 PMID:17916195 PMID:18528435 PMID:19292718 PMID:19762715 PMID:20938162 PMID:21336475 PMID:21936020 PMID:22220914 PMID:22466645 PMID:24346923 PMID:24635075 PMID:24635080 PMID:25156791 PMID:25437880 PMID:25599393 PMID:25741868 PMID:26937547 PMID:27293055 PMID:27862150 PMID:28443301 PMID:28492532 PMID:29130490 PMID:29453417 PMID:30838128 PMID:31340837 PMID:31957900 More...
NCBI chr24:15,748,632...15,785,025
Ensembl chr24:15,748,629...15,782,880
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GALK1
galactokinase 1
ISO
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 1C, localized
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 9:4,818,558...4,824,845
Ensembl chr 9:4,805,650...4,833,503
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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 chr 9:4,825,148...4,855,266
Ensembl chr 9:4,825,292...4,855,820
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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 PMID:17039244 PMID:23746086 PMID:25741868 PMID:27283507 PMID:28492532 PMID:32884918 PMID:32885477 More...
NCBI chr 9:21,190,672...21,195,060
Ensembl chr 9:21,156,045...21,265,564
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KRT81
keratin 81
ISO
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 1C, localized
ClinVar
PMID:7520042 PMID:7537780 PMID:7688477 PMID:8807337 PMID:9036937 PMID:16098032 PMID:16601668 PMID:16882168 PMID:20030639 PMID:20199538 PMID:20301543 PMID:25741868 PMID:26743602 PMID:28492532 PMID:28561874 PMID:30515866 PMID:31579952 More...
NCBI chr27:2,776,693...2,782,016
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KRT81
keratin 81
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 PMID:12648226 PMID:16098032 PMID:18384561 PMID:21144712 PMID:25741868 PMID:28425111 PMID:28492532 PMID:31302245 More...
NCBI chr27:2,776,693...2,782,016
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C3
complement C3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:74171
NCBI chr20:53,566,226...53,598,365
Ensembl chr20:53,566,261...53,598,761
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CAST
calpastatin
ISO
RGD
PMID:16314468
RGD:5509814
NCBI chr 3:12,920,514...13,031,974
Ensembl chr 3:12,922,453...13,031,959
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CAT
catalase
ISO
protein:increased activities:skin:
RGD
PMID:22738420
RGD:9479165
NCBI chr18:33,383,005...33,422,447
Ensembl chr18:33,383,005...33,422,447
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CD36
CD36 molecule (CD36 blood group)
ISO
RGD
PMID:21255096
RGD:5490304
NCBI chr18:20,299,808...20,375,856
Ensembl chr18:20,339,050...20,372,639
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CD40
CD40 molecule
ISO
RGD
PMID:21255096
RGD:5490304
NCBI chr24:33,352,992...33,383,488
Ensembl chr24:33,372,930...33,383,301
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CD40LG
CD40 ligand
ISO
mRNA, protein:increased expression:skin, serum
RGD
PMID:17531537
RGD:8547773
NCBI chr X:107,001,421...107,023,007
Ensembl chr X:107,010,890...107,023,006
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DLA-DQB1
major histocompatibility complex, class II, DQ beta 1
ISO
DNA:polymorphisms:cds:HLA-DQB1*0302, HLA-DQB1*0502 (human)
RGD
PMID:18780165
RGD:5147619
NCBI chr12:2,305,307...2,307,711
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DLA-DRB1
MHC class II DLA DRB1 beta chain
susceptibility
ISO
DNA:polymorphisms (human) DNA:polymorphism:cds:HLA-DRB1*0403, *0406, *1401, *1405, *1406 (human)
RGD
PMID:9347787 PMID:18780165
RGD:40818304 RGD:5147619
NCBI chr12:2,151,409...2,164,564
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IL2
interleukin 2
ISO
RGD
PMID:6432916
RGD:8693324
NCBI chr19:17,750,780...17,756,394
Ensembl chr19:17,750,780...17,756,394
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MBL1
mannose binding lectin 1
ISO
protein:increased expression:skin:
RGD
PMID:21327568
RGD:8693728
NCBI chr 4:29,419,886...29,424,377
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DLA-DQB1
major histocompatibility complex, class II, DQ beta 1
ISO
RGD
PMID:28197992
RGD:14747041
NCBI chr12:2,305,307...2,307,711
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DSG3
desmoglein 3
ISO
OMIM:169610
MouseDO
NCBI chr 7:58,046,563...58,077,926
Ensembl chr 7:57,982,825...58,077,926
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COL7A1
collagen type VII alpha 1 chain
ISO
ClinVar Annotator: match by term: Epidermolysis bullosa, pretibial, autosomal recessive | ClinVar Annotator: match by term: Pretibial dystrophic epidermolysis bullosa | ClinVar Annotator: match by term: Pretibial epidermolysis bullosa
OMIM ClinVar
PMID:7695699 PMID:7833933 PMID:7861014 PMID:8088783 PMID:8218237 PMID:8541842 PMID:8644730 PMID:8755915 PMID:8900535 PMID:9215684 PMID:9242516 PMID:9326325 PMID:9536098 PMID:9666834 PMID:9804332 PMID:9881948 PMID:9892921 PMID:10383749 PMID:10408773 PMID:10504458 PMID:10583163 PMID:10836608 PMID:10944088 PMID:11378329 PMID:11781296 PMID:12207583 PMID:12485454 PMID:12787275 PMID:12813757 PMID:15816848 PMID:15888141 PMID:16199547 PMID:16271705 PMID:16965329 PMID:16971478 PMID:17425959 PMID:17576681 PMID:18429782 PMID:18440202 PMID:18951764 PMID:19197535 PMID:19344236 PMID:19665875 PMID:19681861 PMID:20357813 PMID:20598510 PMID:20920254 PMID:21448560 PMID:21471992 PMID:22058051 PMID:22266148 PMID:23237810 PMID:23947675 PMID:24032424 PMID:24033266 PMID:24210835 PMID:24213372 PMID:24599399 PMID:24794830 PMID:24947307 PMID:25201089 PMID:25284350 PMID:25525159 PMID:25741868 PMID:26076072 PMID:26102279 PMID:26148662 PMID:26446410 PMID:26467025 PMID:26763448 PMID:26864810 PMID:27153395 PMID:27899325 PMID:28492532 PMID:28830826 PMID:29473190 PMID:30280950 PMID:31001817 PMID:31670143 PMID:31930626 PMID:32383240 PMID:32860008 PMID:33587123 PMID:34435747 PMID:35979658 PMID:36287101 More...
NCBI chr20:40,519,121...40,550,305
Ensembl chr20:40,519,378...40,552,935
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COL7A1
collagen type VII alpha 1 chain
ISO
ClinVar Annotator: match by term: Epidermolysis bullosa dystrophica inversa, autosomal recessive | ClinVar Annotator: match by term: Recessive dystrophic epidermolysis bullosa
ClinVar
PMID:1050445 PMID:7577595 PMID:7695699 PMID:7833933 PMID:7883979 PMID:8037207 PMID:8088783 PMID:8218237 PMID:8345225 PMID:8513326 PMID:8592061 PMID:8618004 PMID:8644729 PMID:8644730 PMID:8755915 PMID:8900535 PMID:9215684 PMID:9242516 PMID:9326325 PMID:9347800 PMID:9536098 PMID:9666834 PMID:9668111 PMID:9740253 PMID:9804332 PMID:9856844 PMID:9881948 PMID:10084325 PMID:10367729 PMID:10383749 PMID:10408773 PMID:10469344 PMID:10504458 PMID:10583163 PMID:10836608 PMID:10944088 PMID:11000732 PMID:11167698 PMID:11378329 PMID:11698408 PMID:11722462 PMID:11781296 PMID:11843659 PMID:11874498 PMID:12207583 PMID:12485454 PMID:12653705 PMID:12735646 PMID:12787275 PMID:12813757 PMID:15509587 PMID:15816848 PMID:15888141 PMID:16189623 PMID:16199547 PMID:16271705 PMID:16439963 PMID:16484981 PMID:16965329 PMID:16971478 PMID:17073998 PMID:17425959 PMID:17495952 PMID:17501948 PMID:17576681 PMID:17916216 PMID:18030675 PMID:18414213 PMID:18429782 PMID:18440202 PMID:18450758 PMID:18558993 PMID:18565177 PMID:18951764 PMID:19197535 PMID:19344236 PMID:19439919 PMID:19643583 PMID:19665875 PMID:19681861 PMID:19694003 PMID:19694005 PMID:20184583 PMID:20357813 PMID:20555349 PMID:20598510 PMID:20920254 PMID:21113014 PMID:21124339 PMID:21196708 PMID:21269315 PMID:21382783 PMID:21448560 PMID:21471992 PMID:22058051 PMID:22209565 PMID:22266148 PMID:23237810 PMID:23397949 PMID:23688405 PMID:23786535 PMID:23947675 PMID:24032424 PMID:24033266 PMID:24170138 PMID:24210835 PMID:24213372 PMID:24252097 PMID:24279917 PMID:24317394 PMID:24533879 PMID:24599399 PMID:24899116 PMID:24947307 PMID:25155989 PMID:25201089 PMID:25284350 PMID:25525159 PMID:25741868 PMID:26076072 PMID:26102279 PMID:26143532 PMID:26148662 PMID:26446410 PMID:26467025 PMID:26612796 PMID:26707537 PMID:26763448 PMID:26833212 PMID:26864810 PMID:27153395 PMID:27408687 PMID:27544590 PMID:27746867 PMID:27899325 PMID:28492532 PMID:28830826 PMID:29130490 PMID:29229433 PMID:29272047 PMID:29334134 PMID:29364557 PMID:29473190 PMID:29500833 PMID:29512197 PMID:29531004 PMID:29963685 PMID:30280950 PMID:31001817 PMID:31589614 PMID:31634165 PMID:31670143 PMID:31709745 PMID:31786163 PMID:31930626 PMID:32383240 PMID:32484238 PMID:32506467 PMID:32860008 PMID:33258232 PMID:33274474 PMID:33502061 PMID:33587123 PMID:33969388 PMID:34046686 PMID:34230977 PMID:34435747 PMID:34597860 PMID:34674926 PMID:34826142 PMID:34948168 PMID:35598269 PMID:35885431 PMID:35979658 PMID:36287101 PMID:36430820 More...
NCBI chr20:40,519,121...40,550,305
Ensembl chr20:40,519,378...40,552,935
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GRIP1
glutamate receptor interacting protein 1
ISO
OMIM:226600
MouseDO
NCBI chr10:8,801,023...9,187,684
Ensembl chr10:8,802,529...9,063,848
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MMP1
matrix metallopeptidase 1
ISO
ClinVar Annotator: match by term: Recessive dystrophic epidermolysis bullosa
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 5:28,978,385...28,986,644
Ensembl chr 5:28,978,473...28,986,648
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ALB
albumin
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:12239465
NCBI chr13:62,133,747...62,169,349
Ensembl chr13:62,053,814...62,294,709
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C1QA
complement C1q A chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34142820
NCBI chr 2:76,668,086...76,671,082
Ensembl chr 2:76,668,217...76,670,977
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C1QC
complement C1q C chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34142820
NCBI chr 2:76,660,039...76,664,602
Ensembl chr 2:76,660,035...76,664,577
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CAV1
caveolin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25811541
NCBI chr14:55,458,934...55,494,563
Ensembl chr14:55,461,048...55,492,935
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CELF2
CUGBP Elav-like family member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25811541
NCBI chr 2:25,003,810...25,818,264
Ensembl chr 2:25,004,580...25,520,136
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CFP
complement factor properdin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34142820
NCBI chr X:41,245,868...41,252,194
Ensembl chr X:41,245,905...41,251,623
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CLU
clusterin
ISO
mRNA:decreased expression:conjunctiva
RGD
PMID:12036968
RGD:8699507
NCBI chr25:29,982,811...29,999,565
Ensembl chr25:29,982,811...29,999,563
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COPS5
COP9 signalosome subunit 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25811541
NCBI chr29:16,562,234...16,579,082
Ensembl chr29:16,562,234...16,578,847
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CRP
C-reactive protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34142820
NCBI chr38:22,396,787...22,398,180
Ensembl chr38:22,396,263...22,399,166
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CSF3
colony stimulating factor 3
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:11321886
NCBI chr 9:22,529,643...22,532,326
Ensembl chr 9:22,530,698...22,533,108
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CTNNB1
catenin beta 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25811541
NCBI chr23:10,559,722...10,572,933
Ensembl chr23:10,559,718...10,572,927
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CUL1
cullin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25811541
NCBI chr16:1,995,637...2,086,853
Ensembl chr16:1,995,960...2,052,864
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CUL4A
cullin 4A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25811541
NCBI chr22:60,624,215...60,667,844
Ensembl chr22:60,624,241...60,666,616
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DERL1
derlin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25811541
NCBI chr13:21,423,501...21,452,594
Ensembl chr13:21,419,352...21,482,133
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DLA-DQB1
major histocompatibility complex, class II, DQ beta 1
susceptibility
ISO
DNA:polymorphism:cds:HLA-DQB1*0601 (human)
RGD
PMID:8841298
RGD:7483570
NCBI chr12:2,305,307...2,307,711
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DLA88
MHC class I DLA-88
susceptibility
ISO
DNA:polymorphism:cds:HLA-B*5801 (human, Japanese) DNA:polymorphisms:cds:HLA-B*15:02, HLA-B*40:01, HLA-B*58:02 (human) CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:15057820 PMID:15743917 PMID:16538176 PMID:18855540 PMID:19018717 PMID:19694795 PMID:19915237 PMID:20235791 PMID:20485159 PMID:21428768 PMID:23692434 PMID:25099164 More...
RGD:7364874 RGD:7365090
NCBI chr12:892,442...895,691
Ensembl chr12:892,388...1,021,690
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ELMO1
engulfment and cell motility 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25811541
NCBI chr14:48,163,218...48,610,626
Ensembl chr14:48,164,049...48,730,248
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EP300
E1A binding protein p300
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25811541
NCBI chr10:24,076,538...24,156,708
Ensembl chr10:24,077,971...24,156,396
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FBXO6
F-box protein 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25811541
NCBI chr 2:84,549,519...84,554,176
Ensembl chr 2:84,549,560...84,580,756
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IFNG
interferon gamma
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25811541
NCBI chr10:10,406,866...10,411,698
Ensembl chr10:10,406,867...10,411,698
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LBP
lipopolysaccharide binding protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34142820
NCBI chr24:26,810,369...26,833,515
Ensembl chr24:26,809,843...26,833,434
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LOC100685620
alpha-1-acid glycoprotein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34142820
NCBI chr11:68,557,340...68,560,079
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LRG1
leucine rich alpha-2-glycoprotein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34142820
NCBI chr20:55,177,777...55,180,382
Ensembl chr20:55,177,824...55,180,369
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MIF
macrophage migration inhibitory factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9372356
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MIR18A
microRNA mir-18a
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34142820
NCBI chr22:42,478,138...42,478,229
Ensembl chr22:42,478,138...42,478,229
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NEDD4
NEDD4 E3 ubiquitin protein ligase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25811541
NCBI chr30:21,123,333...21,229,907
Ensembl chr30:21,126,043...21,229,870
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NFKBIZ
NFKB inhibitor zeta
ISO
MouseDO
NCBI chr33:8,147,160...8,154,401
Ensembl chr33:8,073,840...8,154,561
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NOS2
nitric oxide synthase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10620138
NCBI chr 9:42,171,821...42,210,217
Ensembl chr 9:42,171,821...42,208,588
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NUCB1
nucleobindin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25811541
NCBI chr 1:107,453,965...107,476,458
Ensembl chr 1:107,454,636...107,476,375
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PARP1
poly(ADP-ribose) polymerase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25811541
NCBI chr 7:38,503,072...38,542,556
Ensembl chr 7:38,503,067...38,542,127
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PML
PML nuclear body scaffold
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25811541
NCBI chr30:37,232,337...37,278,434
Ensembl chr30:37,232,306...37,277,741
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PROS1
protein S
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34142820
NCBI chr33:1,628,074...1,691,441
Ensembl chr33:1,628,105...1,692,058
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PSMC5
proteasome 26S subunit, ATPase 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25811541
NCBI chr 9:11,783,422...11,787,624
Ensembl chr 9:11,783,466...11,787,617
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PTGER3
prostaglandin E receptor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21966456
NCBI chr 6:74,932,789...74,986,573
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PTGIS
prostaglandin I2 synthase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25811541
NCBI chr24:36,129,091...36,162,525
Ensembl chr24:36,132,173...36,162,509
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RB1
RB transcriptional corepressor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25811541
NCBI chr22:3,061,621...3,204,625
Ensembl chr22:3,063,239...3,257,726
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RBX1
ring-box 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25811541
NCBI chr10:24,265,733...24,280,253
Ensembl chr10:24,266,408...24,280,235
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TNF
tumor necrosis factor
ISO
protein:increased expression:blister:
RGD
PMID:9852250
RGD:7401184
NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425
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VCP
valosin containing protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25811541
NCBI chr11:51,636,986...51,651,749
Ensembl chr11:51,637,411...51,651,714
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VWF
von Willebrand factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34142820
NCBI chr27:38,834,812...38,972,614
Ensembl chr27:38,833,837...39,320,142
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COL7A1
collagen type VII alpha 1 chain
ISO
ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA DYSTROPHICA, NEONATAL FORM | ClinVar Annotator: match by term: Epidermolysis bullosa dystrophica, dominant neonatal form | ClinVar Annotator: match by term: Transient bullous dermolysis of the newborn
OMIM ClinVar
PMID:2653224 PMID:7695699 PMID:7833933 PMID:8088783 PMID:8218237 PMID:8644730 PMID:8755915 PMID:9242516 PMID:9326325 PMID:9406826 PMID:9536098 PMID:9666834 PMID:9740253 PMID:9804332 PMID:9856844 PMID:9881948 PMID:10084325 PMID:10383749 PMID:10408773 PMID:10504458 PMID:10836608 PMID:11781296 PMID:12207583 PMID:12485454 PMID:12787275 PMID:12813757 PMID:15816848 PMID:15888141 PMID:16189623 PMID:16199547 PMID:16225626 PMID:16271705 PMID:16965329 PMID:16971478 PMID:17425959 PMID:17434045 PMID:17501948 PMID:17576681 PMID:18429782 PMID:18440202 PMID:18951764 PMID:19344236 PMID:19665875 PMID:19681861 PMID:20184583 PMID:20357813 PMID:20598510 PMID:20920254 PMID:21448560 PMID:21471992 PMID:22058051 PMID:22209565 PMID:22266148 PMID:23106673 PMID:23237810 PMID:23786535 PMID:23947675 PMID:24032424 PMID:24033266 PMID:24210835 PMID:24317394 PMID:24533879 PMID:24599399 PMID:24947307 PMID:25201089 PMID:25525159 PMID:25741868 PMID:26076072 PMID:26102279 PMID:26148662 PMID:26446410 PMID:26467025 PMID:26707537 PMID:26763448 PMID:27153395 PMID:27899325 PMID:28492532 PMID:28830826 PMID:29473190 PMID:30280950 PMID:31001817 PMID:31670143 PMID:31930626 PMID:32383240 PMID:32484238 PMID:32506467 PMID:32860008 PMID:33587123 PMID:34435747 PMID:35979658 PMID:36287101 More...
NCBI chr20:40,519,121...40,550,305
Ensembl chr20:40,519,378...40,552,935
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FERMT1
FERM domain containing kindlin 1
ISO
Kindler syndrome, OMIM:173650 DNA:point_mutation:CDS:C787T, amino acid Q263X
RGD
PMID:12668616
RGD:1600405
NCBI chr24:15,748,632...15,785,025
Ensembl chr24:15,748,629...15,782,880
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