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G |
HR |
HR lysine demethylase and nuclear receptor corepressor |
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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...
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NCBI chr 8:20,183,797...20,207,510
Ensembl chr 8:20,183,677...20,198,700
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G |
ODC1 |
ornithine decarboxylase 1 |
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ISO |
OMIM:209500 |
MouseDO |
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NCBI chr14:97,173,338...97,182,253
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G |
COL7A1 |
collagen type VII alpha 1 chain |
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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...
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NCBI chr22:9,964,652...9,996,785
Ensembl chr22:9,964,651...9,996,626
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G |
ITGB4 |
integrin subunit beta 4 |
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ISO |
ClinVar Annotator: match by term: Cockayne-Touraine type epidermolysis bullosa |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr16:45,926,543...45,962,967
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G |
KRT5 |
keratin 5 |
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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...
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NCBI chr11:48,660,946...48,673,593
Ensembl chr11:48,660,961...48,666,830
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G |
LOC103243443 |
keratin, type I cytoskeletal 14 |
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ISO |
ClinVar Annotator: match by term: Cockayne-Touraine type epidermolysis bullosa |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr16:64,654,988...64,660,327
Ensembl chr16:64,655,807...64,660,319
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G |
ADAM17 |
ADAM metallopeptidase domain 17 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19167455 |
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NCBI chr14:98,092,093...98,157,657
Ensembl chr14:98,092,044...98,157,217
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G |
ANXA1 |
annexin A1 |
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ISO |
associated with Hypersensitivity, Delayed;protein:increased expression:mononuclear cell |
RGD |
PMID:10331485 |
RGD:7421575 |
NCBI chr12:84,207,818...84,226,438
Ensembl chr12:84,207,820...84,226,562
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G |
DSG3 |
desmoglein 3 |
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ISO |
ClinVar Annotator: match by term: Blistering, acantholytic, of oral and laryngeal mucosa |
OMIM ClinVar |
PMID:25741868 PMID:30528827 |
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NCBI chr18:49,252,048...49,284,238
Ensembl chr18:49,254,106...49,282,937
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G |
CCL26 |
C-C motif chemokine ligand 26 |
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ISO |
protein:increased expression:blister, serum (human) |
RGD |
PMID:21881593 |
RGD:11087555 |
NCBI chr28:10,036,177...10,038,962
Ensembl chr28:10,036,337...10,038,875
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G |
CFB |
complement factor B |
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ISO |
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RGD |
PMID:17024247 |
RGD:7421522 |
Ensembl chr17:40,069,909...40,094,207
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G |
CXCL8 |
C-X-C motif chemokine ligand 8 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11359455 |
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NCBI chr 7:22,202,497...22,205,730
Ensembl chr 7:22,202,527...22,204,068
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G |
ICAM1 |
intercellular adhesion molecule 1 |
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ISO |
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RGD |
PMID:1377725 |
RGD:8547591 |
NCBI chr 6:9,320,991...9,338,125
Ensembl chr 6:9,322,550...9,338,263
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G |
IL2 |
interleukin 2 |
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ISO |
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RGD |
PMID:1973607 |
RGD:8663461 |
NCBI chr 7:69,729,635...69,736,279
Ensembl chr 7:69,730,282...69,734,969
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G |
MMP9 |
matrix metallopeptidase 9 |
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ISO |
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RGD |
PMID:9687525 |
RGD:8547843 |
NCBI chr 2:17,867,267...17,874,757
Ensembl chr 2:17,867,177...17,874,712
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G |
VEGFA |
vascular endothelial growth factor A |
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ISO |
mRNA:increased expression: : |
RGD |
PMID:7738351 |
RGD:7421578 |
NCBI chr17:28,377,959...28,394,508
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G |
CLU |
clusterin |
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ISO |
mRNA:decreased expression:conjunctiva |
RGD |
PMID:12036968 |
RGD:8699507 |
NCBI chr 8:25,704,441...25,721,789
Ensembl chr 8:25,703,257...25,721,789
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G |
IL1RN |
interleukin 1 receptor antagonist |
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ISO |
protein:increased expression:serum (human) |
RGD |
PMID:11448121 |
RGD:8549794 |
NCBI chr14:16,136,667...16,152,451
Ensembl chr14:16,146,333...16,151,326
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G |
PTGER3 |
prostaglandin E receptor 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21966456 |
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NCBI chr20:62,093,830...62,293,360
Ensembl chr20:62,095,458...62,174,959
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G |
TNF |
tumor necrosis factor |
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ISO |
protein:increased expression:Conjunctiva: |
RGD |
PMID:7750940 |
RGD:7394786 |
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G |
ELN |
elastin |
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ISO |
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RGD |
PMID:8256113 |
RGD:9585750 |
NCBI chr28:8,999,164...9,048,703
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G |
LTA |
lymphotoxin alpha |
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ISO |
DNA:polymorphism |
RGD |
PMID:7914110 |
RGD:8548777 |
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G |
TNF |
tumor necrosis factor |
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ISO |
DNA:polymorphism:promoter |
RGD |
PMID:7914110 |
RGD:8548777 |
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G |
VEGFA |
vascular endothelial growth factor A |
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ISO |
mRNA:increased expression: : |
RGD |
PMID:7738351 |
RGD:7421578 |
NCBI chr17:28,377,959...28,394,508
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G |
CCL26 |
C-C motif chemokine ligand 26 |
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ISO |
protein:increased expression:skin, sebocyte (human) |
RGD |
PMID:22206772 |
RGD:11081159 |
NCBI chr28:10,036,177...10,038,962
Ensembl chr28:10,036,337...10,038,875
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G |
COL7A1 |
collagen type VII alpha 1 chain |
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ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa |
ClinVar |
PMID:10504458 PMID:16971478 PMID:25741868 PMID:28492532 |
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NCBI chr22:9,964,652...9,996,785
Ensembl chr22:9,964,651...9,996,626
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G |
EXPH5 |
exophilin 5 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr 1:99,922,745...100,016,928
Ensembl chr 1:99,919,191...99,984,614
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G |
ITGA6 |
integrin subunit alpha 6 |
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ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa |
ClinVar |
PMID:14675179 PMID:25741868 |
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NCBI chr10:57,933,434...58,013,152
Ensembl chr10:57,933,535...58,014,170
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G |
ITGB4 |
integrin subunit beta 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18348258 |
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NCBI chr16:45,926,543...45,962,967
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G |
KRT5 |
keratin 5 |
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ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa |
ClinVar |
PMID:25741868 |
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NCBI chr11:48,660,946...48,673,593
Ensembl chr11:48,660,961...48,666,830
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G |
LAMB3 |
laminin subunit beta 3 |
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ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa |
ClinVar |
PMID:25741868 |
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NCBI chr25:19,805,234...19,856,025
Ensembl chr25:19,807,045...19,846,684
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G |
COL7A1 |
collagen type VII alpha 1 chain |
susceptibility |
ISO |
ClinVar Annotator: match by term: Dystrophic epidermolysis bullosa | ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Epidermolysis bullosa dystrophica | ClinVar Annotator: match by term: Hallopeau-Siemens Disease | ClinVar Annotator: match by term: epidermolysis bullosa dystrophica, autosomal recessive DNA:insertion-deletion |
OMIM ClinVar RGD |
PMID:2425097 PMID:5910871 PMID:7577595 PMID:7695699 PMID:7833933 PMID:7861014 PMID:8037207 PMID:8088783 PMID:8218237 PMID:8275094 PMID:8345225 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: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:15509587 PMID:15550148 PMID:15816848 PMID:15888141 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: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: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:33587123 PMID:33969388 PMID:34046686 PMID:34230977 PMID:34435747 PMID:34674926 PMID:34826142 PMID:34948168 PMID:35432467 PMID:35885431 PMID:35979658 PMID:36287101 PMID:36430820 More...
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RGD:1600946 |
NCBI chr22:9,964,652...9,996,785
Ensembl chr22:9,964,651...9,996,626
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G |
IGFBP3 |
insulin like growth factor binding protein 3 |
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ISO |
mRNA,protein:decreased expression:skin: |
RGD |
PMID:15140235 |
RGD:12743601 |
NCBI chr21:12,905,309...12,914,199
Ensembl chr21:12,905,280...12,914,205
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G |
MMP1 |
matrix metallopeptidase 1 |
severity |
ISO |
DNA:insertion:promoter:g.-1607_-1606insG (human) ClinVar Annotator: match by term: Hallopeau-Siemens Disease |
RGD ClinVar |
PMID:18030675 PMID:25741868 PMID:28492532 |
RGD:8549728 |
NCBI chr 1:94,167,507...94,177,357
Ensembl chr 1:94,167,219...94,176,767
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G |
COL7A1 |
collagen type VII alpha 1 chain |
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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...
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NCBI chr22:9,964,652...9,996,785
Ensembl chr22:9,964,651...9,996,626
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G |
COL7A1 |
collagen type VII alpha 1 chain |
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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...
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NCBI chr22:9,964,652...9,996,785
Ensembl chr22:9,964,651...9,996,626
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G |
ITGB4 |
integrin subunit beta 4 |
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ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Cockayne-Touraine type |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr16:45,926,543...45,962,967
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G |
KRT5 |
keratin 5 |
susceptibility |
ISO |
DNA:mutation ClinVar Annotator: match by term: Epidermolysis bullosa simplex | ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Cockayne-Touraine type |
RGD ClinVar |
PMID:421361 PMID:1049409 PMID:1372711 PMID:1718160 PMID:2476664 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...
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RGD:1600195 |
NCBI chr11:48,660,946...48,673,593
Ensembl chr11:48,660,961...48,666,830
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G |
LOC103243443 |
keratin, type I cytoskeletal 14 |
susceptibility |
ISO |
DNA:point mutations ClinVar Annotator: match by term: Epidermolysis bullosa simplex | ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Cockayne-Touraine type | ClinVar Annotator: match by term: Epidermolysis bullosa simplex, autosomal recessive |
RGD ClinVar |
PMID:1717157 PMID:7682883 PMID:8601736 PMID:10583131 PMID:10733662 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...
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RGD:1600173 |
NCBI chr16:64,654,988...64,660,327
Ensembl chr16:64,655,807...64,660,319
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G |
MMP9 |
matrix metallopeptidase 9 |
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ISO |
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RGD |
PMID:23894602 |
RGD:13204851 |
NCBI chr 2:17,867,267...17,874,757
Ensembl chr 2:17,867,177...17,874,712
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G |
PLEC |
plectin |
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ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex |
ClinVar |
PMID:11851880 PMID:23289980 PMID:25741868 PMID:28492532 |
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NCBI chr 8:138,125,471...138,187,209
Ensembl chr 8:138,125,280...138,149,364
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G |
KRT5 |
keratin 5 |
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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...
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NCBI chr11:48,660,946...48,673,593
Ensembl chr11:48,660,961...48,666,830
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DST |
dystonin |
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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...
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NCBI chr17:14,652,044...15,133,172
Ensembl chr17:14,652,233...15,133,862
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G |
EXPH5 |
exophilin 5 |
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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...
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NCBI chr 1:99,922,745...100,016,928
Ensembl chr 1:99,919,191...99,984,614
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G |
PLEC |
plectin |
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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...
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NCBI chr 8:138,125,471...138,187,209
Ensembl chr 8:138,125,280...138,149,364
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G |
ARHGAP10 |
Rho GTPase activating protein 10 |
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ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy |
ClinVar |
PMID:25741868 |
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NCBI chr 7:94,233,257...94,568,042
Ensembl chr 7:94,216,032...94,568,502
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G |
BCLAF1 |
BCL2 associated transcription factor 1 |
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ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy |
ClinVar |
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NCBI chr13:37,133,898...37,165,296
Ensembl chr13:37,143,772...37,166,793
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G |
DCUN1D2 |
defective in cullin neddylation 1 domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy |
ClinVar |
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NCBI chr 3:91,426,580...91,466,594
Ensembl chr 3:91,428,821...91,458,863
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G |
FREM2 |
FRAS1 related extracellular matrix 2 |
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ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy |
ClinVar |
PMID:28492532 |
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NCBI chr 3:17,121,063...17,310,149
Ensembl chr 3:17,129,126...17,300,363
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G |
HRNR |
hornerin |
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ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy |
ClinVar |
PMID:25741868 |
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NCBI chr20:11,439,492...11,442,174
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G |
IDS |
iduronate 2-sulfatase |
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ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy |
ClinVar |
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G |
PLEC |
plectin |
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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...
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NCBI chr 8:138,125,471...138,187,209
Ensembl chr 8:138,125,280...138,149,364
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G |
RP1L1 |
RP1 like 1 |
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ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy |
ClinVar |
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NCBI chr 8:8,479,768...8,499,497
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TMEM249 |
transmembrane protein 249 |
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ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy |
ClinVar |
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NCBI chr 8:138,565,041...138,567,099
Ensembl chr 8:138,565,177...138,566,548
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G |
CD151 |
CD151 molecule (Raph blood group) |
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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 |
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NCBI chr 1:639,044...645,154
Ensembl chr 1:639,345...647,157
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G |
KRT5 |
keratin 5 |
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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...
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NCBI chr11:48,660,946...48,673,593
Ensembl chr11:48,660,961...48,666,830
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G |
LOC103243443 |
keratin, type I cytoskeletal 14 |
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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...
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NCBI chr16:64,654,988...64,660,327
Ensembl chr16:64,655,807...64,660,319
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G |
KLHL24 |
kelch like family member 24 |
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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...
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NCBI chr15:5,732,347...5,780,154
Ensembl chr15:5,732,928...5,780,143
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G |
KRT5 |
keratin 5 |
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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 |
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NCBI chr11:48,660,946...48,673,593
Ensembl chr11:48,660,961...48,666,830
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G |
LOC103243443 |
keratin, type I cytoskeletal 14 |
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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...
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NCBI chr16:64,654,988...64,660,327
Ensembl chr16:64,655,807...64,660,319
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G |
ITGB4 |
integrin subunit beta 4 |
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ISO |
ClinVar Annotator: match by term: Localized epidermolysis bullosa simplex |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr16:45,926,543...45,962,967
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G |
KRT5 |
keratin 5 |
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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...
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NCBI chr11:48,660,946...48,673,593
Ensembl chr11:48,660,961...48,666,830
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G |
LOC103243443 |
keratin, type I cytoskeletal 14 |
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ISO |
ClinVar Annotator: match by term: Localized epidermolysis bullosa simplex |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr16:64,654,988...64,660,327
Ensembl chr16:64,655,807...64,660,319
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G |
PLEC |
plectin |
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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...
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NCBI chr 8:138,125,471...138,187,209
Ensembl chr 8:138,125,280...138,149,364
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G |
KRT5 |
keratin 5 |
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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...
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NCBI chr11:48,660,946...48,673,593
Ensembl chr11:48,660,961...48,666,830
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G |
ADCK5 |
aarF domain containing kinase 5 |
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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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NCBI chr 8:138,585,353...138,602,759
Ensembl chr 8:138,585,376...138,602,569
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G |
BOP1 |
BOP1 ribosomal biogenesis factor |
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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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NCBI chr 8:138,473,377...138,503,715
Ensembl chr 8:138,473,441...138,503,661
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G |
CCDC166 |
coiled-coil domain containing 166 |
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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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NCBI chr 8:137,917,181...137,920,051
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G |
CPSF1 |
cleavage and polyadenylation specific factor 1 |
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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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NCBI chr 8:138,602,549...138,618,802
Ensembl chr 8:138,602,835...138,617,071
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G |
CYP11B1 |
cytochrome P450 family 11 subfamily B member 1 |
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ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:28492532 |
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NCBI chr 8:137,125,409...137,132,267
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G |
DGAT1 |
diacylglycerol O-acyltransferase 1 |
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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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NCBI chr 8:138,531,113...138,541,721
Ensembl chr 8:138,531,384...138,541,637
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G |
EEF1D |
eukaryotic translation elongation factor 1 delta |
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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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NCBI chr 8:137,800,115...137,818,264
Ensembl chr 8:137,799,428...137,813,120
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G |
EXOSC4 |
exosome component 4 |
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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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NCBI chr 8:138,290,581...138,292,621
Ensembl chr 8:138,290,705...138,292,570
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G |
FAM83H |
family with sequence similarity 83 member H |
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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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NCBI chr 8:137,941,390...137,949,992
Ensembl chr 8:137,941,754...137,949,394
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G |
FBXL6 |
F-box and leucine rich repeat protein 6 |
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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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NCBI chr 8:138,565,041...138,570,403
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G |
FOXH1 |
forkhead box H1 |
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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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NCBI chr 8:138,685,137...138,688,451
Ensembl chr 8:138,685,626...138,687,144
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G |
GFUS |
GDP-L-fucose synthase |
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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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NCBI chr 8:137,833,033...137,837,975
Ensembl chr 8:137,833,317...137,837,943
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G |
GLI4 |
GLI family zinc finger 4 |
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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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NCBI chr 8:137,477,338...137,501,762
Ensembl chr 8:137,491,467...137,498,821
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G |
GML |
glycosylphosphatidylinositol anchored molecule like |
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ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:28492532 |
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NCBI chr 8:137,070,864...137,095,154
Ensembl chr 8:137,088,766...137,094,991
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G |
GPAA1 |
glycosylphosphatidylinositol anchor attachment 1 |
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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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NCBI chr 8:138,295,851...138,299,461
Ensembl chr 8:138,296,002...138,299,370
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G |
GPIHBP1 |
glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1 |
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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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NCBI chr 8:137,433,669...137,440,681
Ensembl chr 8:137,436,997...137,440,909
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G |
GPT |
glutamic--pyruvic transaminase |
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ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:28492532 |
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NCBI chr 8:138,716,802...138,721,421
Ensembl chr 8:138,718,767...138,721,251
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G |
GRINA |
glutamate ionotropic receptor NMDA type subunit associated protein 1 |
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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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NCBI chr 8:138,199,642...138,202,989
Ensembl chr 8:138,200,792...138,202,453
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G |
GSDMD |
gasdermin D |
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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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NCBI chr 8:137,778,290...137,783,542
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G |
HGH1 |
HGH1 homolog |
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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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NCBI chr 8:138,347,835...138,350,791
Ensembl chr 8:138,347,922...138,349,671
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G |
HSF1 |
heat shock transcription factor 1 |
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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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NCBI chr 8:138,503,836...138,529,562
Ensembl chr 8:138,503,831...138,529,165
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G |
KIFC2 |
kinesin family member C2 |
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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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NCBI chr 8:138,677,652...138,685,504
Ensembl chr 8:138,677,411...138,686,661
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G |
LOC103237609 |
cytochrome c1, heme protein, mitochondrial |
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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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NCBI chr 8:138,307,537...138,310,037
Ensembl chr 8:138,307,581...138,312,915
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G |
LOC103237730 |
epiplakin |
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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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NCBI chr 8:138,072,057...138,086,757
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G |
LY6D |
lymphocyte antigen 6 family member D |
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ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:28492532 |
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NCBI chr 8:137,033,609...137,038,589
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G |
LY6E |
lymphocyte antigen 6 family member E |
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ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:28492532 |
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NCBI chr 8:137,265,510...137,269,397
Ensembl chr 8:137,265,535...137,269,404
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LY6H |
lymphocyte antigen 6 family member H |
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ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:28492532 |
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NCBI chr 8:137,388,806...137,391,547
Ensembl chr 8:137,388,732...137,391,212
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G |
LYNX1 |
Ly6/neurotoxin 1 |
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ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:28492532 |
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NCBI chr 8:137,014,986...137,026,502
Ensembl chr 8:137,015,247...137,025,381
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G |
LYPD2 |
LY6/PLAUR domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:28492532 |
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NCBI chr 8:137,002,203...137,010,702
Ensembl chr 8:137,002,571...137,004,668
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G |
MAF1 |
MAF1 homolog, negative regulator of RNA polymerase III |
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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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NCBI chr 8:138,315,739...138,318,963
Ensembl chr 8:138,316,980...138,319,456
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G |
MAFA |
MAF bZIP transcription factor A |
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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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NCBI chr 8:137,647,459...137,650,169
Ensembl chr 8:137,648,746...137,649,804
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G |
MAPK15 |
mitogen-activated protein kinase 15 |
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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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NCBI chr 8:137,932,291...137,938,392
Ensembl chr 8:137,932,364...137,938,626
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G |
MFSD3 |
major facilitator superfamily domain containing 3 |
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ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:28492532 |
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NCBI chr 8:138,721,514...138,725,434
Ensembl chr 8:138,723,161...138,725,389
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G |
MROH1 |
maestro heat like repeat family member 1 |
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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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NCBI chr 8:138,357,119...138,473,212
Ensembl chr 8:138,357,843...138,473,001
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G |
MROH6 |
maestro heat like repeat family member 6 |
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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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NCBI chr 8:137,786,500...137,793,567
Ensembl chr 8:137,787,542...137,792,830
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NAPRT |
nicotinate phosphoribosyltransferase |
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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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NCBI chr 8:137,794,933...137,799,145
Ensembl chr 8:137,792,993...137,798,658
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G |
NRBP2 |
nuclear receptor binding protein 2 |
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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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NCBI chr 8:138,051,058...138,059,484
Ensembl chr 8:138,048,903...138,058,553
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OPLAH |
5-oxoprolinase, ATP-hydrolysing |
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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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NCBI chr 8:138,263,419...138,273,279
Ensembl chr 8:138,259,670...138,273,179
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PARP10 |
poly(ADP-ribose) polymerase family member 10 |
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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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NCBI chr 8:138,187,635...138,195,541
Ensembl chr 8:138,187,562...138,195,504
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PLEC |
plectin |
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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...
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NCBI chr 8:138,125,471...138,187,209
Ensembl chr 8:138,125,280...138,149,364
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PPP1R16A |
protein phosphatase 1 regulatory subunit 16A |
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ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:28492532 |
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NCBI chr 8:138,689,414...138,716,707
Ensembl chr 8:138,689,414...138,716,488
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PUF60 |
poly(U) binding splicing factor 60 |
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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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NCBI chr 8:138,034,526...138,047,485
Ensembl chr 8:138,034,395...138,042,468
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G |
PYCR3 |
pyrroline-5-carboxylate reductase 3 |
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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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NCBI chr 8:137,823,685...137,830,630
Ensembl chr 8:137,826,293...137,830,546
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G |
RECQL4 |
RecQ like helicase 4 |
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ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:28492532 |
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NCBI chr 8:138,725,494...138,732,286
Ensembl chr 8:138,725,633...138,732,096
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G |
RHPN1 |
rhophilin Rho GTPase binding protein 1 |
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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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NCBI chr 8:137,591,656...137,604,616
Ensembl chr 8:137,591,673...137,604,452
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SCRIB |
scribble planar cell polarity protein |
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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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NCBI chr 8:138,008,722...138,033,874
Ensembl chr 8:138,008,579...138,033,843
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G |
SCRT1 |
scratch family transcriptional repressor 1 |
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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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NCBI chr 8:138,545,221...138,551,544
Ensembl chr 8:138,547,817...138,551,146
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G |
SCX |
scleraxis bHLH transcription factor |
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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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NCBI chr 8:138,476,902...138,482,185
Ensembl chr 8:138,478,458...138,480,459
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G |
SHARPIN |
SHANK associated RH domain interactor |
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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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NCBI chr 8:138,310,036...138,315,120
Ensembl chr 8:138,307,581...138,315,101
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G |
SLC39A4 |
solute carrier family 39 member 4 |
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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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NCBI chr 8:138,622,100...138,626,749
Ensembl chr 8:138,622,224...138,626,376
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G |
SLC52A2 |
solute carrier family 52 member 2 |
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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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NCBI chr 8:138,570,451...138,573,072
Ensembl chr 8:138,571,081...138,573,079
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G |
SLURP1 |
secreted LY6/PLAUR domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:136,989,380...136,995,279
Ensembl chr 8:136,993,754...136,994,996
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G |
SPATC1 |
spermatogenesis and centriole associated 1 |
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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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NCBI chr 8:138,223,802...138,260,402
Ensembl chr 8:138,224,033...138,260,330
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G |
TIGD5 |
tigger transposable element derived 5 |
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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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NCBI chr 8:137,818,156...137,820,900
Ensembl chr 8:137,818,489...137,820,420
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G |
TMEM249 |
transmembrane protein 249 |
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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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NCBI chr 8:138,565,041...138,567,099
Ensembl chr 8:138,565,177...138,566,548
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G |
TONSL |
tonsoku like, DNA repair protein |
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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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NCBI chr 8:138,641,514...138,657,429
Ensembl chr 8:138,641,575...138,656,673
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G |
TOP1MT |
DNA topoisomerase I mitochondrial |
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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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VPS28 |
VPS28 subunit of ESCRT-I |
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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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NCBI chr 8:138,636,092...138,641,011
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G |
ZC3H3 |
zinc finger CCCH-type containing 3 |
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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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NCBI chr 8:137,656,299...137,762,448
Ensembl chr 8:137,656,302...137,762,403
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G |
ZFP41 |
ZFP41 zinc finger protein |
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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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G |
ZFTRAF1 |
zinc finger TRAF-type containing 1 |
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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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NCBI chr 8:138,661,584...138,677,000
Ensembl chr 8:138,662,031...138,674,142 Ensembl chr 8:138,662,031...138,674,142
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G |
ZNF623 |
zinc finger protein 623 |
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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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NCBI chr 8:137,858,065...137,874,944
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G |
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...
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NCBI chr 8:137,506,136...137,518,808
Ensembl chr 8:137,506,198...137,518,134
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COL7A1 |
collagen type VII alpha 1 chain |
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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...
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NCBI chr22:9,964,652...9,996,785
Ensembl chr22:9,964,651...9,996,626
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G |
DSP |
desmoplakin |
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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...
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NCBI chr17:64,611,243...64,656,297
Ensembl chr17:64,611,103...64,656,366
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CD40 |
CD40 molecule |
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ISO |
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RGD |
PMID:18050371 |
RGD:8547765 |
NCBI chr 2:17,753,713...17,765,134
Ensembl chr 2:17,753,394...17,764,566
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CD40LG |
CD40 ligand |
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ISO |
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RGD |
PMID:18050371 |
RGD:8547765 |
NCBI chr X:111,655,301...111,667,602
Ensembl chr X:111,655,397...111,666,639
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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 chr14:18,878,013...18,885,183
Ensembl chr14:18,878,622...18,883,885
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G |
MASP2 |
MBL associated serine protease 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12904520 |
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NCBI chr20:120,731,591...120,753,104
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VEGFA |
vascular endothelial growth factor A |
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ISO |
mRNA:increased expression: : |
RGD |
PMID:7738351 |
RGD:7421578 |
NCBI chr17:28,377,959...28,394,508
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G |
KLHL24 |
kelch like family member 24 |
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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...
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NCBI chr15:5,732,347...5,780,154
Ensembl chr15:5,732,928...5,780,143
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G |
KRT5 |
keratin 5 |
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ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Koebner type |
ClinVar |
PMID:7520042 PMID:8807337 PMID:20199538 PMID:25741868 |
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NCBI chr11:48,660,946...48,673,593
Ensembl chr11:48,660,961...48,666,830
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LOC103243443 |
keratin, type I cytoskeletal 14 |
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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...
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NCBI chr16:64,654,988...64,660,327
Ensembl chr16:64,655,807...64,660,319
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DST |
dystonin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr17:14,652,044...15,133,172
Ensembl chr17:14,652,233...15,133,862
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G |
KRT5 |
keratin 5 |
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ISO |
ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX 1D, GENERALIZED, INTERMEDIATE OR SEVERE, AUTOSOMAL RECESSIVE |
ClinVar |
PMID:7520042 PMID:8807337 PMID:25741868 |
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NCBI chr11:48,660,946...48,673,593
Ensembl chr11:48,660,961...48,666,830
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LOC103243443 |
keratin, type I cytoskeletal 14 |
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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...
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NCBI chr16:64,654,988...64,660,327
Ensembl chr16:64,655,807...64,660,319
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KRT5 |
keratin 5 |
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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...
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NCBI chr11:48,660,946...48,673,593
Ensembl chr11:48,660,961...48,666,830
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KRT5 |
keratin 5 |
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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 |
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NCBI chr11:48,660,946...48,673,593
Ensembl chr11:48,660,961...48,666,830
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KLHL24 |
kelch like family member 24 |
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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...
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NCBI chr15:5,732,347...5,780,154
Ensembl chr15:5,732,928...5,780,143
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KRT5 |
keratin 5 |
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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...
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NCBI chr11:48,660,946...48,673,593
Ensembl chr11:48,660,961...48,666,830
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LOC103243443 |
keratin, type I cytoskeletal 14 |
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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...
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NCBI chr16:64,654,988...64,660,327
Ensembl chr16:64,655,807...64,660,319
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KRT5 |
keratin 5 |
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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...
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NCBI chr11:48,660,946...48,673,593
Ensembl chr11:48,660,961...48,666,830
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ATP2C1 |
ATPase secretory pathway Ca2+ transporting 1 |
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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...
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NCBI chr15:59,189,075...59,348,684
Ensembl chr15:59,188,225...59,311,709
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DSC3 |
desmocollin 3 |
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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 |
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NCBI chr18:49,660,067...49,709,762
Ensembl chr18:49,662,094...49,709,529
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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...
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RGD:1600884 |
NCBI chr 9:97,079,444...97,136,878
Ensembl chr 9:97,080,191...97,135,545
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GALK1 |
galactokinase 1 |
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ISO |
ClinVar Annotator: match by term: Junctional epidermolysis bullosa |
ClinVar |
PMID:9792864 PMID:11886501 |
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NCBI chr16:45,919,316...45,926,423
Ensembl chr16:45,919,402...45,926,304
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ITGA6 |
integrin subunit alpha 6 |
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ISO |
ClinVar Annotator: match by term: Junctional epidermolysis bullosa |
ClinVar |
PMID:21357940 PMID:25741868 |
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NCBI chr10:57,933,434...58,013,152
Ensembl chr10:57,933,535...58,014,170
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ITGB4 |
integrin subunit beta 4 |
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ISO |
ClinVar Annotator: match by term: Junctional epidermolysis bullosa |
ClinVar |
PMID:9792864 PMID:11886501 |
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NCBI chr16:45,926,543...45,962,967
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LAMA3 |
laminin subunit alpha 3 |
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ISO |
ClinVar Annotator: match by term: Junctional epidermolysis bullosa |
ClinVar |
PMID:9536098 PMID:10366601 PMID:11810295 PMID:11907499 PMID:12915477 PMID:15538630 PMID:16473856 PMID:17362460 PMID:17576681 PMID:17916201 PMID:22434185 PMID:23869449 PMID:25741868 PMID:27827380 PMID:28087116 PMID:28492532 More...
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NCBI chr18:56,580,245...56,851,381
Ensembl chr18:56,580,700...56,850,451
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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...
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RGD:1600209 |
NCBI chr25:19,805,234...19,856,025
Ensembl chr25:19,807,045...19,846,684
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G |
LAMC2 |
laminin subunit gamma 2 |
susceptibility |
ISO |
DNA:splice-site mutation, deletion-insertion ClinVar Annotator: match by term: Junctional epidermolysis bullosa |
RGD ClinVar |
PMID:8012393 PMID:9856849 PMID:11231327 PMID:11810295 PMID:11907499 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...
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RGD:1600210 |
NCBI chr25:46,133,079...46,199,960
Ensembl chr25:46,131,827...46,199,753
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COL17A1 |
collagen type XVII alpha 1 chain |
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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...
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NCBI chr 9:97,079,444...97,136,878
Ensembl chr 9:97,080,191...97,135,545
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LAMA3 |
laminin subunit alpha 3 |
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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...
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NCBI chr18:56,580,245...56,851,381
Ensembl chr18:56,580,700...56,850,451
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G |
LAMB3 |
laminin subunit beta 3 |
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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...
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NCBI chr25:19,805,234...19,856,025
Ensembl chr25:19,807,045...19,846,684
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LAMA3 |
laminin subunit alpha 3 |
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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...
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NCBI chr18:56,580,245...56,851,381
Ensembl chr18:56,580,700...56,850,451
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LAMB3 |
laminin subunit beta 3 |
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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...
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NCBI chr25:19,805,234...19,856,025
Ensembl chr25:19,807,045...19,846,684
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G |
LAMC2 |
laminin subunit gamma 2 |
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ISO |
ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 1B, SEVERE |
ClinVar |
PMID:11907499 PMID:16199547 PMID:16473856 PMID:25741868 PMID:28492532 |
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NCBI chr25:46,133,079...46,199,960
Ensembl chr25:46,131,827...46,199,753
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LAMA3 |
laminin subunit alpha 3 |
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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...
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NCBI chr18:56,580,245...56,851,381
Ensembl chr18:56,580,700...56,850,451
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G |
LAMA3 |
laminin subunit alpha 3 |
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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...
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NCBI chr18:56,580,245...56,851,381
Ensembl chr18:56,580,700...56,850,451
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G |
LAMA3 |
laminin subunit alpha 3 |
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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...
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NCBI chr18:56,580,245...56,851,381
Ensembl chr18:56,580,700...56,850,451
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G |
LAMC2 |
laminin subunit gamma 2 |
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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...
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NCBI chr25:46,133,079...46,199,960
Ensembl chr25:46,131,827...46,199,753
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G |
LAMC2 |
laminin subunit gamma 2 |
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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...
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NCBI chr25:46,133,079...46,199,960
Ensembl chr25:46,131,827...46,199,753
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G |
COL17A1 |
collagen type XVII alpha 1 chain |
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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...
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NCBI chr 9:97,079,444...97,136,878
Ensembl chr 9:97,080,191...97,135,545
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G |
GALK1 |
galactokinase 1 |
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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...
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NCBI chr16:45,919,316...45,926,423
Ensembl chr16:45,919,402...45,926,304
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G |
ITGB4 |
integrin subunit beta 4 |
|
ISO |
ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5A, NON-HERLITZ TYPE | ClinVar Annotator: match by term: Epidermolysis bullosa, junctional 5A, intermediate |
OMIM ClinVar |
PMID:9536098 PMID:9546354 PMID:9892956 PMID:10792571 PMID:11328943 PMID:12485428 PMID:15009117 PMID:16199547 PMID:16473856 PMID:17576681 PMID:25741868 PMID:28492532 PMID:30011071 More...
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NCBI chr16:45,926,543...45,962,967
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G |
ITGA3 |
integrin subunit alpha 3 |
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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...
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NCBI chr16:43,248,341...43,282,045
Ensembl chr16:43,250,435...43,281,670
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G |
ITGA6 |
integrin subunit alpha 6 |
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ISO |
OMIM:226700 |
MouseDO |
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NCBI chr10:57,933,434...58,013,152
Ensembl chr10:57,933,535...58,014,170
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G |
LAMA3 |
laminin subunit alpha 3 |
|
ISO |
ClinVar Annotator: match by term: Herlitz-Pearson type epidermolysis bullosa | ClinVar Annotator: match by term: Herlitz-type junctional epidermolysis bullosa | ClinVar Annotator: match by term: Junctional epidermolysis bullosa gravis of Herlitz |
ClinVar |
PMID:7633458 PMID:8530087 PMID:8618022 PMID:8824879 PMID:8983017 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...
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NCBI chr18:56,580,245...56,851,381
Ensembl chr18:56,580,700...56,850,451
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G |
LAMB3 |
laminin subunit beta 3 |
|
ISO |
ClinVar Annotator: match by term: Herlitz-Pearson type epidermolysis bullosa | ClinVar Annotator: match by term: Herlitz-type junctional epidermolysis bullosa | ClinVar Annotator: match by term: Junctional epidermolysis bullosa gravis of Herlitz |
ClinVar |
PMID:7550237 PMID:7698759 PMID:7706760 PMID:8362910 PMID:8541876 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...
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NCBI chr25:19,805,234...19,856,025
Ensembl chr25:19,807,045...19,846,684
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G |
LAMC2 |
laminin subunit gamma 2 |
|
ISO |
ClinVar Annotator: match by term: Herlitz-Pearson type epidermolysis bullosa | ClinVar Annotator: match by term: Herlitz-type junctional epidermolysis bullosa | ClinVar Annotator: match by term: Junctional epidermolysis bullosa gravis of Herlitz |
ClinVar |
PMID:7849725 PMID:8012114 PMID:8012393 PMID:8012394 PMID:8824879 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...
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NCBI chr25:46,133,079...46,199,960
Ensembl chr25:46,131,827...46,199,753
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G |
SLC2A1 |
solute carrier family 2 member 1 |
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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...
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NCBI chr20:89,974,567...90,007,977
Ensembl chr20:90,002,030...90,008,033
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G |
COL17A1 |
collagen type XVII alpha 1 chain |
|
ISO |
ClinVar Annotator: match by term: Junctional epidermolysis bullosa, non-Herlitz type |
ClinVar |
PMID:9077475 PMID:9204958 PMID:9536098 PMID:9583744 PMID:10636730 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...
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NCBI chr 9:97,079,444...97,136,878
Ensembl chr 9:97,080,191...97,135,545
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G |
GALK1 |
galactokinase 1 |
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ISO |
ClinVar Annotator: match by term: Junctional epidermolysis bullosa, non-Herlitz type |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr16:45,919,316...45,926,423
Ensembl chr16:45,919,402...45,926,304
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G |
ITGB4 |
integrin subunit beta 4 |
|
ISO |
ClinVar Annotator: match by term: Junctional epidermolysis bullosa, non-Herlitz type |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr16:45,926,543...45,962,967
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G |
LAMA3 |
laminin subunit alpha 3 |
|
ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa junctionalis, disentis type | ClinVar Annotator: match by term: Junctional epidermolysis bullosa, non-Herlitz type |
ClinVar |
PMID:10366601 PMID:11810295 PMID:12915477 PMID:16473856 PMID:17362460 PMID:22434185 PMID:23869449 PMID:24033266 PMID:25363238 PMID:25741868 PMID:27827380 PMID:28087116 PMID:28492532 More...
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NCBI chr18:56,580,245...56,851,381
Ensembl chr18:56,580,700...56,850,451
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G |
LAMB3 |
laminin subunit beta 3 |
|
ISO |
ClinVar Annotator: match by term: Junctional epidermolysis bullosa, non-Herlitz type ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA JUNCTIONALIS, SEVERE NONLETHAL | ClinVar Annotator: match by term: Epidermolysis bullosa junctionalis, disentis type | ClinVar Annotator: match by term: Junctional epidermolysis bullosa, non-Herlitz type |
ClinVar |
PMID:7550237 PMID:7698759 PMID:7706760 PMID:8824879 PMID:8983017 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...
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NCBI chr25:19,805,234...19,856,025
Ensembl chr25:19,807,045...19,846,684
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G |
LAMC2 |
laminin subunit gamma 2 |
|
ISO |
ClinVar Annotator: match by term: Junctional epidermolysis bullosa, non-Herlitz type |
ClinVar |
PMID:11564184 PMID:25741868 PMID:27375110 PMID:28492532 |
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NCBI chr25:46,133,079...46,199,960
Ensembl chr25:46,131,827...46,199,753
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G |
GALK1 |
galactokinase 1 |
|
ISO |
ClinVar Annotator: match by term: Junctional epidermolysis bullosa with pyloric atresia ClinVar Annotator: match by term: ITGB4-related condition | ClinVar Annotator: match by term: Junctional epidermolysis bullosa with pyloric atresia |
ClinVar |
PMID:9536098 PMID:9792864 PMID:9892956 PMID:10484780 PMID:11328943 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...
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NCBI chr16:45,919,316...45,926,423
Ensembl chr16:45,919,402...45,926,304
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G |
ITGA6 |
integrin subunit alpha 6 |
|
ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa, junctional 6, with pyloric atresia | ClinVar Annotator: match by term: ITGA6-related condition | ClinVar Annotator: match by term: ITGB4-related condition | ClinVar Annotator: match by term: Junctional epidermolysis bullosa with pyloric atresia |
OMIM ClinVar |
PMID:9158140 PMID:9185503 PMID:9804362 PMID:14675179 PMID:23496044 PMID:25741868 PMID:27607025 PMID:28492532 More...
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NCBI chr10:57,933,434...58,013,152
Ensembl chr10:57,933,535...58,014,170
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G |
ITGB4 |
integrin subunit beta 4 |
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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...
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NCBI chr16:45,926,543...45,962,967
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G |
MYO6 |
myosin VI |
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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...
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NCBI chr13:527,361...620,418
Ensembl chr13:457,495...618,858
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G |
PLEC |
plectin |
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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 |
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NCBI chr 8:138,125,471...138,187,209
Ensembl chr 8:138,125,280...138,149,364
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G |
FERMT1 |
FERM domain containing kindlin 1 |
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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...
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NCBI chr 2:32,006,824...32,060,838
Ensembl chr 2:32,009,615...32,062,211
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G |
GALK1 |
galactokinase 1 |
|
ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 1C, localized |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr16:45,919,316...45,926,423
Ensembl chr16:45,919,402...45,926,304
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G |
ITGB4 |
integrin subunit beta 4 |
|
ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 1C, localized |
ClinVar |
PMID:11328943 PMID:16473856 PMID:25741868 PMID:28492532 |
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NCBI chr16:45,926,543...45,962,967
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G |
KRT5 |
keratin 5 |
|
ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 1C, localized |
ClinVar |
PMID:7520042 PMID:7537780 PMID:7688477 PMID:8807337 PMID:9036937 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...
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NCBI chr11:48,660,946...48,673,593
Ensembl chr11:48,660,961...48,666,830
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G |
LOC103243443 |
keratin, type I cytoskeletal 14 |
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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...
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NCBI chr16:64,654,988...64,660,327
Ensembl chr16:64,655,807...64,660,319
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G |
KRT5 |
keratin 5 |
|
ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 2C, Weber-Cockayne type | ClinVar Annotator: match by term: Epidermolysis bullosa simplex 2C, localized | ClinVar Annotator: match by term: Epidermolysis bullosa simplex 2C, localized, modifier of |
OMIM ClinVar |
PMID:7520042 PMID:7537780 PMID:7688477 PMID:8807337 PMID:11973334 PMID:12648226 PMID:16098032 PMID:18384561 PMID:21144712 PMID:25741868 PMID:28425111 PMID:28492532 PMID:31302245 More...
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NCBI chr11:48,660,946...48,673,593
Ensembl chr11:48,660,961...48,666,830
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G |
C3 |
complement C3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:74171 |
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NCBI chr 6:6,250,422...6,289,264
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G |
CAST |
calpastatin |
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ISO |
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RGD |
PMID:16314468 |
RGD:5509814 |
NCBI chr 4:90,496,867...90,607,019
Ensembl chr 4:90,497,754...90,605,481
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G |
CAT |
catalase |
|
ISO |
protein:increased activities:skin: |
RGD |
PMID:22738420 |
RGD:9479165 |
NCBI chr 1:30,792,533...30,828,920
Ensembl chr 1:30,792,399...30,829,592
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G |
CD36 |
CD36 molecule (CD36 blood group) |
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ISO |
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RGD |
PMID:21255096 |
RGD:5490304 |
NCBI chr21:68,214,875...68,309,336
Ensembl chr21:68,216,201...68,268,669
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G |
CD40 |
CD40 molecule |
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ISO |
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RGD |
PMID:21255096 |
RGD:5490304 |
NCBI chr 2:17,753,713...17,765,134
Ensembl chr 2:17,753,394...17,764,566
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G |
CD40LG |
CD40 ligand |
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ISO |
mRNA, protein:increased expression:skin, serum |
RGD |
PMID:17531537 |
RGD:8547773 |
NCBI chr X:111,655,301...111,667,602
Ensembl chr X:111,655,397...111,666,639
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G |
IL2 |
interleukin 2 |
|
ISO |
|
RGD |
PMID:6432916 |
RGD:8693324 |
NCBI chr 7:69,729,635...69,736,279
Ensembl chr 7:69,730,282...69,734,969
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G |
MBL2 |
mannose binding lectin 2 |
|
ISO |
protein:increased expression:skin: |
RGD |
PMID:21327568 |
RGD:8693728 |
NCBI chr 9:78,389,534...78,394,753
Ensembl chr 9:78,389,947...78,396,079
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G |
MHC-DQA1 |
major histocompatibility complex, class II, DQ alpha 1 |
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ISO |
DNA:polymorphisms:cds:HLA-DQA1*0104, HLA-DQA1*03011 (human) |
RGD |
PMID:18780165 |
RGD:5147619 |
NCBI chr17:39,422,445...39,428,777
Ensembl chr17:39,420,134...39,428,871
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G |
DSG3 |
desmoglein 3 |
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ISO |
OMIM:169610 |
MouseDO |
|
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NCBI chr18:49,252,048...49,284,238
Ensembl chr18:49,254,106...49,282,937
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G |
COL7A1 |
collagen type VII alpha 1 chain |
|
ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa, pretibial, autosomal recessive | ClinVar Annotator: match by term: Pretibial dystrophic epidermolysis bullosa | ClinVar Annotator: match by term: Pretibial epidermolysis bullosa |
OMIM ClinVar |
PMID:7695699 PMID:7833933 PMID:7861014 PMID:8088783 PMID:8218237 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...
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NCBI chr22:9,964,652...9,996,785
Ensembl chr22:9,964,651...9,996,626
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COL7A1 |
collagen type VII alpha 1 chain |
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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...
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NCBI chr22:9,964,652...9,996,785
Ensembl chr22:9,964,651...9,996,626
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GRIP1 |
glutamate receptor interacting protein 1 |
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ISO |
OMIM:226600 |
MouseDO |
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NCBI chr11:62,018,037...62,464,440
Ensembl chr11:62,015,463...62,335,876
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MMP1 |
matrix metallopeptidase 1 |
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ISO |
ClinVar Annotator: match by term: Recessive dystrophic epidermolysis bullosa |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 1:94,167,507...94,177,357
Ensembl chr 1:94,167,219...94,176,767
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ALB |
albumin |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:12239465 |
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NCBI chr 7:21,872,036...21,890,095
Ensembl chr 7:21,876,132...21,891,407
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APCS |
amyloid P component, serum |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:34142820 |
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NCBI chr20:4,360,955...4,363,810
Ensembl chr20:4,358,654...4,362,095
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C1QA |
complement C1q A chain |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:34142820 |
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NCBI chr20:110,024,847...110,027,868
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C1QC |
complement C1q C chain |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:34142820 |
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NCBI chr20:110,016,355...110,021,123
Ensembl chr20:110,016,362...110,020,854
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CAV1 |
caveolin 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25811541 |
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NCBI chr21:85,222,724...85,258,562
Ensembl chr21:85,222,879...85,258,627
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CELF2 |
CUGBP Elav-like family member 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25811541 |
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NCBI chr 9:10,534,623...11,395,516
Ensembl chr 9:11,080,404...11,388,136
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CLU |
clusterin |
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ISO |
mRNA:decreased expression:conjunctiva |
RGD |
PMID:12036968 |
RGD:8699507 |
NCBI chr 8:25,704,441...25,721,789
Ensembl chr 8:25,703,257...25,721,789
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COPS5 |
COP9 signalosome subunit 5 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25811541 |
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NCBI chr 8:62,905,924...62,925,205
Ensembl chr 8:62,905,906...62,925,201
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CRP |
C-reactive protein |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:34142820 |
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NCBI chr20:4,232,262...4,235,826
Ensembl chr20:4,232,913...4,235,377
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CSF3 |
colony stimulating factor 3 |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:11321886 |
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NCBI chr16:66,162,814...66,166,192
Ensembl chr16:66,163,681...66,165,172
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CTNNB1 |
catenin beta 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25811541 |
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NCBI chr22:2,679,488...2,725,034
Ensembl chr22:2,684,022...2,723,949
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CUL1 |
cullin 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25811541 |
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NCBI chr21:117,271,477...117,373,983
Ensembl chr21:117,271,548...117,374,379
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CUL4A |
cullin 4A |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25811541 |
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NCBI chr 3:91,211,238...91,267,236
Ensembl chr 3:91,212,193...91,268,838
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DERL1 |
derlin 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25811541 |
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NCBI chr 8:117,587,373...117,617,233
Ensembl chr 8:117,586,496...117,617,194
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ELMO1 |
engulfment and cell motility 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25811541 |
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NCBI chr21:21,066,910...21,639,149
Ensembl chr21:21,066,924...21,640,705
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EP300 |
E1A binding protein p300 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25811541 |
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NCBI chr19:23,634,132...23,726,095
Ensembl chr19:23,634,571...23,724,979
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FBXO6 |
F-box protein 6 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25811541 |
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NCBI chr20:120,116,125...120,127,025
Ensembl chr20:120,116,169...120,126,920
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IFNA2 |
interferon alpha 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25811541 |
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NCBI chr12:58,468,018...58,469,825
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IFNG |
interferon gamma |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25811541 |
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NCBI chr11:63,785,493...63,791,071
Ensembl chr11:63,786,041...63,790,473
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LBP |
lipopolysaccharide binding protein |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:34142820 |
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NCBI chr 2:25,375,364...25,407,181
Ensembl chr 2:25,374,755...25,406,839
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LOC103218970 |
alpha-1-acid glycoprotein 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:34142820 |
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NCBI chr12:25,257,002...25,261,255
Ensembl chr12:25,256,969...25,260,446
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LOC103224275 |
glutathione S-transferase Mu 1 |
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ISO |
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RGD |
PMID:28689274 |
RGD:14700974 |
NCBI chr20:23,854,969...23,861,634
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LOC103231897 |
properdin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:34142820 |
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NCBI chr X:44,801,388...44,807,177
Ensembl chr X:44,801,354...44,807,402
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LRG1 |
leucine rich alpha-2-glycoprotein 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:34142820 |
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NCBI chr 6:4,272,231...4,275,060
Ensembl chr 6:4,272,214...4,274,460
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MIF |
macrophage migration inhibitory factor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9372356 |
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NCBI chr19:7,000,837...7,001,700
Ensembl chr19:7,000,793...7,001,757
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NEDD4 |
NEDD4 E3 ubiquitin protein ligase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25811541 |
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NCBI chr26:27,487,652...27,655,742
Ensembl chr26:27,487,796...27,655,992
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NFKBIZ |
NFKB inhibitor zeta |
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ISO |
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MouseDO |
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NCBI chr22:79,044,624...79,077,736
Ensembl chr22:79,044,619...79,055,776
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NOS2 |
nitric oxide synthase 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10620138 |
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NCBI chr16:21,533,011...21,576,645
Ensembl chr16:21,533,484...21,574,257
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NUCB1 |
nucleobindin 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25811541 |
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NCBI chr 6:42,133,505...42,154,461
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PARP1 |
poly(ADP-ribose) polymerase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25811541 |
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NCBI chr25:3,350,798...3,405,040
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PML |
PML nuclear body scaffold |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25811541 |
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NCBI chr26:9,441,998...9,494,949
Ensembl chr26:9,451,112...9,494,931
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PROS1 |
protein S |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:34142820 |
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NCBI chr22:86,728,089...86,840,413
Ensembl chr22:86,728,339...86,840,356
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PSMC5 |
proteasome 26S subunit, ATPase 5 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25811541 |
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NCBI chr16:57,457,670...57,462,321
Ensembl chr16:57,457,720...57,462,249
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PTGER3 |
prostaglandin E receptor 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21966456 |
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NCBI chr20:62,093,830...62,293,360
Ensembl chr20:62,095,458...62,174,959
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PTGIS |
prostaglandin I2 synthase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25811541 |
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NCBI chr 2:14,420,318...14,484,667
Ensembl chr 2:14,441,983...14,488,264
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RB1 |
RB transcriptional corepressor 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25811541 |
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NCBI chr 3:26,220,783...26,393,671
Ensembl chr 3:26,220,803...26,394,546
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RBX1 |
ring-box 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25811541 |
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NCBI chr19:23,500,361...23,521,676
Ensembl chr19:23,500,356...23,522,723
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TNF |
tumor necrosis factor |
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ISO |
protein:increased expression:blister: |
RGD |
PMID:9852250 |
RGD:7401184 |
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VCP |
valosin containing protein |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25811541 |
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NCBI chr12:45,545,139...45,560,702
Ensembl chr12:45,545,507...45,563,380
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VWF |
von Willebrand factor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:34142820 |
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NCBI chr11:5,994,499...6,176,949
Ensembl chr11:5,994,039...6,162,260
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COL7A1 |
collagen type VII alpha 1 chain |
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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...
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NCBI chr22:9,964,652...9,996,785
Ensembl chr22:9,964,651...9,996,626
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FERMT1 |
FERM domain containing kindlin 1 |
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ISO |
Kindler syndrome, OMIM:173650 DNA:point_mutation:CDS:C787T, amino acid Q263X |
RGD |
PMID:12668616 |
RGD:1600405 |
NCBI chr 2:32,006,824...32,060,838
Ensembl chr 2:32,009,615...32,062,211
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