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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 chrNW_004936555:5,936,431...5,954,852
Ensembl chrNW_004936555:5,936,220...5,954,974
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G |
Odc1 |
ornithine decarboxylase 1 |
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ISO |
OMIM:209500 |
MouseDO |
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NCBI chrNW_004936532:6,581,717...6,587,116
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G |
Col7a1 |
collagen type VII alpha 1 chain |
|
ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa dystrophica, autosomal dominant |
OMIM ClinVar |
PMID:1680286 PMID:2425097 PMID:5910871 PMID:7577595 PMID:7695699 PMID:7738360 PMID:7833933 PMID:7861014 PMID:8088783 PMID:8170945 PMID:8218237 PMID:8288900 PMID:8345225 PMID:8618004 PMID:8618021 PMID:8644729 PMID:8644730 PMID:8752681 PMID:8755915 PMID:9215684 PMID:9242516 PMID:9326325 PMID:9347800 PMID:9536098 PMID:9666834 PMID:9668111 PMID:9740253 PMID:9804332 PMID:9856843 PMID:9856844 PMID:9881948 PMID:9892921 PMID:10084325 PMID:10232408 PMID:10233777 PMID:10383749 PMID:10408773 PMID:10469344 PMID:10504458 PMID:10836608 PMID:11710955 PMID:11781296 PMID:11874498 PMID:11952672 PMID:12207583 PMID:12485454 PMID:12735646 PMID:12787275 PMID:12813757 PMID:14616374 PMID:15816848 PMID:15888141 PMID:16189623 PMID:16199547 PMID:16271705 PMID:16484981 PMID:16557343 PMID:16965329 PMID:16971468 PMID:16971478 PMID:17336503 PMID:17425959 PMID:17576681 PMID:17916216 PMID:18429782 PMID:18440202 PMID:18951764 PMID:19197535 PMID:19269793 PMID:19344236 PMID:19665875 PMID:19681861 PMID:20357813 PMID:20598510 PMID:20920254 PMID:21269315 PMID:21448560 PMID:21471992 PMID:22058051 PMID:22266148 PMID:23237810 PMID:23397949 PMID:23786535 PMID:23947675 PMID:24032424 PMID:24033266 PMID:24210835 PMID:24317394 PMID:24599399 PMID:24794830 PMID:24947307 PMID:25201089 PMID:25222259 PMID:25525159 PMID:25741868 PMID:26039182 PMID:26076072 PMID:26102279 PMID:26148662 PMID:26446410 PMID:26467025 PMID:26763448 PMID:26864810 PMID:27153395 PMID:27899325 PMID:28492532 PMID:28830826 PMID:29473190 PMID:29500833 PMID:29963685 PMID:30280950 PMID:31001817 PMID:31670143 PMID:31709745 PMID:31930626 PMID:32383240 PMID:32506467 PMID:32860008 PMID:33587123 PMID:34435747 PMID:35979658 PMID:36287101 More...
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NCBI chrNW_004936529:348,938...381,701
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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 chrNW_004936594:912,302...944,819
Ensembl chrNW_004936594:912,291...946,012
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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 chrNW_004936512:9,923,593...9,929,517
Ensembl chrNW_004936512:9,922,523...9,929,517
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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 chrNW_004936532:5,864,851...5,904,005
Ensembl chrNW_004936532:5,864,867...5,904,003
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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 chrNW_004936503:9,124,314...9,142,372
Ensembl chrNW_004936503:9,124,264...9,142,413
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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 chrNW_004936682:1,738,615...1,764,216
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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 chrNW_004936543:2,414,948...2,416,922
Ensembl chrNW_004936543:2,414,850...2,416,953
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G |
Cfb |
complement factor B |
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ISO |
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RGD |
PMID:17024247 |
RGD:7421522 |
NCBI chrNW_004936727:1,595,872...1,602,274
Ensembl chrNW_004936727:1,595,499...1,602,215
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G |
F2 |
coagulation factor II, thrombin |
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ISO |
protein:increased expression:plasma |
RGD |
PMID:21488867 |
RGD:5147756 |
NCBI chrNW_004936562:2,371,725...2,388,617
Ensembl chrNW_004936562:2,372,044...2,388,650
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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 chrNW_004936659:616,570...627,172
Ensembl chrNW_004936659:616,752...627,174
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G |
Il2 |
interleukin 2 |
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ISO |
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RGD |
PMID:1973607 |
RGD:8663461 |
NCBI chrNW_004936662:1,594,953...1,599,625
Ensembl chrNW_004936662:1,594,953...1,599,625
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G |
LOC101964975 |
interleukin-8 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11359455 |
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NCBI chrNW_004936598:1,779,471...1,781,353
Ensembl chrNW_004936598:1,779,471...1,781,353
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G |
Mmp9 |
matrix metallopeptidase 9 |
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ISO |
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RGD |
PMID:9687525 |
RGD:8547843 |
NCBI chrNW_004936514:7,038,240...7,045,873
Ensembl chrNW_004936514:7,037,639...7,045,793
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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 chrNW_004936476:16,245,134...16,261,180
Ensembl chrNW_004936476:16,247,100...16,260,673
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G |
Clu |
clusterin |
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ISO |
mRNA:decreased expression:conjunctiva |
RGD |
PMID:12036968 |
RGD:8699507 |
NCBI chrNW_004936675:499,745...513,515
Ensembl chrNW_004936675:499,199...513,836
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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 chrNW_004936783:1,447,158...1,466,331
Ensembl chrNW_004936783:1,447,106...1,466,340
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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 chrNW_004936591:1,174,364...1,250,233
Ensembl chrNW_004936591:1,174,069...1,249,410
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G |
Tnf |
tumor necrosis factor |
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ISO |
protein:increased expression:Conjunctiva: |
RGD |
PMID:7750940 |
RGD:7394786 |
NCBI chrNW_004936727:1,936,066...1,937,766
Ensembl chrNW_004936727:1,936,066...1,937,766
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G |
Eln |
elastin |
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ISO |
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RGD |
PMID:8256113 |
RGD:9585750 |
NCBI chrNW_004936543:3,135,169...3,165,023
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G |
Lta |
lymphotoxin alpha |
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ISO |
DNA:polymorphism |
RGD |
PMID:7914110 |
RGD:8548777 |
NCBI chrNW_004936727:1,940,081...1,941,022
Ensembl chrNW_004936727:1,940,081...1,941,022
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G |
Tnf |
tumor necrosis factor |
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ISO |
DNA:polymorphism:promoter |
RGD |
PMID:7914110 |
RGD:8548777 |
NCBI chrNW_004936727:1,936,066...1,937,766
Ensembl chrNW_004936727:1,936,066...1,937,766
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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 chrNW_004936476:16,245,134...16,261,180
Ensembl chrNW_004936476:16,247,100...16,260,673
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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 chrNW_004936543:2,414,948...2,416,922
Ensembl chrNW_004936543:2,414,850...2,416,953
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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 chrNW_004936529:348,938...381,701
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G |
Exph5 |
exophilin 5 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chrNW_004936551:195,321...268,842
Ensembl chrNW_004936551:195,134...270,769
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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 chrNW_004936509:2,508,446...2,587,643
Ensembl chrNW_004936509:2,508,375...2,587,669
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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 chrNW_004936594:912,302...944,819
Ensembl chrNW_004936594:912,291...946,012
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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 chrNW_004936512:9,923,593...9,929,517
Ensembl chrNW_004936512:9,922,523...9,929,517
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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 chrNW_004936557:3,429,488...3,487,995
Ensembl chrNW_004936557:3,450,247...3,487,954
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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 chrNW_004936529:348,938...381,701
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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 chrNW_004936478:20,511,490...20,518,251
Ensembl chrNW_004936478:20,510,137...20,518,306
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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 chrNW_004936551:5,167,909...5,175,149
Ensembl chrNW_004936551:5,168,044...5,174,857
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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 chrNW_004936529:348,938...381,701
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G |
Col7a1 |
collagen type VII alpha 1 chain |
|
ISO |
ClinVar Annotator: match by term: DYSTROPHIC EPIDERMOLYSIS BULLOSA PRURIGINOSA | ClinVar Annotator: match by term: Epidermolysis bullosa pruriginosa | ClinVar Annotator: match by term: Epidermolysis bullosa pruriginosa, autosomal dominant | ClinVar Annotator: match by term: Epidermolysis bullosa pruriginosa, autosomal recessive |
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 chrNW_004936529:348,938...381,701
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G |
Itgb4 |
integrin subunit beta 4 |
|
ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Cockayne-Touraine type |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chrNW_004936594:912,302...944,819
Ensembl chrNW_004936594:912,291...946,012
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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 chrNW_004936512:9,923,593...9,929,517
Ensembl chrNW_004936512:9,922,523...9,929,517
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G |
LOC101957084 |
plectin |
|
ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex |
ClinVar |
PMID:11851880 PMID:23289980 PMID:25741868 PMID:28492532 |
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NCBI chrNW_004936470:8,194,124...8,252,139
Ensembl chrNW_004936470:8,216,205...8,250,978
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G |
Mmp9 |
matrix metallopeptidase 9 |
|
ISO |
|
RGD |
PMID:23894602 |
RGD:13204851 |
NCBI chrNW_004936514:7,038,240...7,045,873
Ensembl chrNW_004936514:7,037,639...7,045,793
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G |
Krt5 |
keratin 5 |
|
ISO |
ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX 2E, WITH MIGRATORY CIRCINATE ERYTHEMA | ClinVar Annotator: match by term: Epidermolysis bullosa simplex with migratory circinate erythema |
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 chrNW_004936512:9,923,593...9,929,517
Ensembl chrNW_004936512:9,922,523...9,929,517
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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 chrNW_004936476:4,344,673...4,772,892
Ensembl chrNW_004936476:4,344,716...4,771,878
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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 chrNW_004936551:195,321...268,842
Ensembl chrNW_004936551:195,134...270,769
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G |
LOC101957084 |
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 chrNW_004936470:8,194,124...8,252,139
Ensembl chrNW_004936470:8,216,205...8,250,978
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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 chrNW_004936535:1,473,693...1,767,437
Ensembl chrNW_004936535:1,473,736...1,767,419
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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 chrNW_004936560:3,681,145...3,711,831
Ensembl chrNW_004936560:3,680,657...3,712,004
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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 chrNW_004936472:285,927...308,123
Ensembl chrNW_004936472:285,990...308,164
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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 chrNW_004936565:6,671,578...6,837,514
Ensembl chrNW_004936565:6,671,737...6,837,514
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G |
Gpr33 |
G protein-coupled receptor 33 |
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ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy |
ClinVar |
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NCBI chrNW_004936494:6,074,140...6,078,747
Ensembl chrNW_004936494:6,074,140...6,078,747
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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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NCBI chrNW_004936513:62,966...88,844
Ensembl chrNW_004936513:62,993...88,774
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LOC101957084 |
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 chrNW_004936470:8,194,124...8,252,139
Ensembl chrNW_004936470:8,216,205...8,250,978
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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 chrNW_004936675:2,527,406...2,564,464
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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 chrNW_004936470:7,892,463...7,893,914
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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 chrNW_004936888:592,325...597,116
Ensembl chrNW_004936888:592,849...597,107
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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 chrNW_004936512:9,923,593...9,929,517
Ensembl chrNW_004936512:9,922,523...9,929,517
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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 chrNW_004936578:6,116,117...6,151,244
Ensembl chrNW_004936578:6,116,068...6,151,297
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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 chrNW_004936512:9,923,593...9,929,517
Ensembl chrNW_004936512:9,922,523...9,929,517
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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 chrNW_004936594:912,302...944,819
Ensembl chrNW_004936594:912,291...946,012
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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 chrNW_004936512:9,923,593...9,929,517
Ensembl chrNW_004936512:9,922,523...9,929,517
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G |
LOC101957084 |
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 chrNW_004936470:8,194,124...8,252,139
Ensembl chrNW_004936470:8,216,205...8,250,978
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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 chrNW_004936512:9,923,593...9,929,517
Ensembl chrNW_004936512:9,922,523...9,929,517
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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 chrNW_004936470:7,857,284...7,870,180
Ensembl chrNW_004936470:7,857,446...7,870,377
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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 chrNW_004936470:7,950,952...7,977,186
Ensembl chrNW_004936470:7,950,982...7,977,540
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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 chrNW_004936470:8,435,940...8,438,861
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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 chrNW_004936470:7,848,846...7,857,291
Ensembl chrNW_004936470:7,849,329...7,857,214
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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 chrNW_004936470:7,916,438...7,926,089
Ensembl chrNW_004936470:7,916,438...7,926,088
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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 chrNW_004936470:8,538,899...8,553,645
Ensembl chrNW_004936470:8,538,821...8,553,970
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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 chrNW_004936470:8,097,218...8,099,319
Ensembl chrNW_004936470:8,097,267...8,099,201
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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 chrNW_004936470:8,413,055...8,418,360
Ensembl chrNW_004936470:8,406,912...8,418,895
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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 chrNW_004936470:7,888,676...7,891,796
Ensembl chrNW_004936470:7,888,048...7,893,460
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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 chrNW_004936470:7,789,486...7,791,067
Ensembl chrNW_004936470:7,789,541...7,791,039
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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 chrNW_004936470:8,523,240...8,527,451
Ensembl chrNW_004936470:8,523,562...8,527,546
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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 chrNW_004936470:8,767,797...8,772,590
Ensembl chrNW_004936470:8,767,408...8,772,529
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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 chrNW_004936470:8,978,825...8,997,476
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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 chrNW_004936470:8,092,758...8,096,277
Ensembl chrNW_004936470:8,092,855...8,096,074
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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 chrNW_004936470:8,798,095...8,800,176
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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 chrNW_004936470:7,765,810...7,770,837
Ensembl chrNW_004936470:7,765,703...7,768,465
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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 chrNW_004936470:8,180,468...8,183,694
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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 chrNW_004936470:8,567,085...8,571,448
Ensembl chrNW_004936470:8,567,091...8,571,467
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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 chrNW_004936470:8,058,775...8,061,025
Ensembl chrNW_004936470:8,058,988...8,060,940
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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 chrNW_004936470:7,927,734...7,950,805
Ensembl chrNW_004936470:7,928,095...7,933,337
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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 chrNW_004936470:7,791,137...7,800,221
Ensembl chrNW_004936470:7,790,593...7,798,459
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G |
LOC101954680 |
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 chrNW_004936470:8,082,791...8,085,197
Ensembl chrNW_004936470:8,082,791...8,085,185
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G |
LOC101957084 |
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 chrNW_004936470:8,194,124...8,252,139
Ensembl chrNW_004936470:8,216,205...8,250,978
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LOC101961294 |
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 chrNW_004936470:8,308,135...8,317,259
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LOC101968671 |
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 chrNW_004936470:9,099,502...9,101,105
Ensembl chrNW_004936470:9,099,477...9,101,112
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LOC101969996 |
ly6/PLAUR domain-containing protein 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 chrNW_004936470:9,126,833...9,128,808
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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 chrNW_004936470:8,879,217...8,880,777
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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 chrNW_004936470:8,834,904...8,836,493
Ensembl chrNW_004936470:8,834,899...8,837,886
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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 chrNW_004936470:9,109,888...9,115,271
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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 chrNW_004936470:8,073,228...8,076,338
Ensembl chrNW_004936470:8,072,606...8,076,338
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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 chrNW_004936470:8,684,392...8,686,758
Ensembl chrNW_004936470:8,684,393...8,685,475
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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 chrNW_004936470:8,420,850...8,425,996
Ensembl chrNW_004936470:8,420,732...8,425,884
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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 chrNW_004936470:7,761,645...7,764,230
Ensembl chrNW_004936470:7,761,721...7,764,269
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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 chrNW_004936470:7,977,338...8,049,414
Ensembl chrNW_004936470:7,977,525...8,039,096
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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 chrNW_004936470:8,559,368...8,564,425
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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 chrNW_004936470:8,554,739...8,557,889
Ensembl chrNW_004936470:8,554,641...8,557,919
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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 chrNW_004936470:8,327,326...8,333,573
Ensembl chrNW_004936470:8,327,258...8,332,200
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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 chrNW_004936470:8,126,677...8,139,556
Ensembl chrNW_004936470:8,130,548...8,143,021
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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 chrNW_004936470:7,770,627...7,788,039
Ensembl chrNW_004936470:7,770,776...7,788,006
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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 chrNW_004936470:8,336,852...8,348,335
Ensembl chrNW_004936470:8,336,390...8,348,609
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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 chrNW_004936470:8,527,896...8,531,788
Ensembl chrNW_004936470:8,528,103...8,531,569
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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 chrNW_004936470:7,755,253...7,761,705
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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 chrNW_004936470:8,718,341...8,730,668
Ensembl chrNW_004936470:8,719,627...8,729,487
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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 chrNW_004936470:8,349,175...8,370,099
Ensembl chrNW_004936470:8,349,188...8,369,864
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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 chrNW_004936470:7,907,294...7,913,136
Ensembl chrNW_004936470:7,907,272...7,914,686
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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 chrNW_004936470:7,966,096...7,972,379
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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 chrNW_004936470:8,076,605...8,081,872
Ensembl chrNW_004936470:8,077,019...8,086,600
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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 chrNW_004936470:7,836,612...7,842,262
Ensembl chrNW_004936470:7,838,030...7,842,262
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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 chrNW_004936470:7,886,169...7,888,592
Ensembl chrNW_004936470:7,881,890...7,888,592
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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 |
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NCBI chrNW_004936470:9,132,641...9,134,868
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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 chrNW_004936470:8,144,660...8,165,407
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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 chrNW_004936470:8,533,548...8,537,888
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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 chrNW_004936470:7,892,463...7,893,914
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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 chrNW_004936470:7,817,444...7,829,124
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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 chrNW_004936470:7,829,207...7,833,213
Ensembl chrNW_004936470:7,830,114...7,833,047
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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 chrNW_004936470:8,591,564...8,675,505
Ensembl chrNW_004936470:8,591,540...8,675,519
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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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NCBI chrNW_004936470:8,775,403...8,784,882
Ensembl chrNW_004936470:8,775,423...8,784,786
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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 chrNW_004936470:7,799,304...7,813,420
Ensembl chrNW_004936470:7,799,298...7,815,737
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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 chrNW_004936470:8,469,827...8,477,937
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Znf696 |
zinc finger protein 696 |
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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 chrNW_004936470:8,753,476...8,759,552
Ensembl chrNW_004936470:8,752,601...8,756,568
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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 chrNW_004936529:348,938...381,701
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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 chrNW_004936534:5,029,008...5,076,467
Ensembl chrNW_004936534:5,028,911...5,077,199
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Cd40 |
CD40 molecule |
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ISO |
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RGD |
PMID:18050371 |
RGD:8547765 |
NCBI chrNW_004936514:6,936,915...6,947,246
Ensembl chrNW_004936514:6,936,572...6,947,280
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G |
Cd40lg |
CD40 ligand |
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ISO |
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RGD |
PMID:18050371 |
RGD:8547765 |
NCBI chrNW_004936513:10,607,617...10,620,403
Ensembl chrNW_004936513:10,607,617...10,620,403
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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 chrNW_004936712:885,301...891,247
Ensembl chrNW_004936712:885,458...890,852
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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 chrNW_004936474:100,584...113,781
Ensembl chrNW_004936474:101,402...114,313
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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 chrNW_004936476:16,245,134...16,261,180
Ensembl chrNW_004936476:16,247,100...16,260,673
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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 chrNW_004936578:6,116,117...6,151,244
Ensembl chrNW_004936578:6,116,068...6,151,297
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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 chrNW_004936512:9,923,593...9,929,517
Ensembl chrNW_004936512:9,922,523...9,929,517
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G |
Dst |
dystonin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chrNW_004936476:4,344,673...4,772,892
Ensembl chrNW_004936476:4,344,716...4,771,878
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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 chrNW_004936512:9,923,593...9,929,517
Ensembl chrNW_004936512:9,922,523...9,929,517
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G |
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 chrNW_004936512:9,923,593...9,929,517
Ensembl chrNW_004936512:9,922,523...9,929,517
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G |
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 chrNW_004936512:9,923,593...9,929,517
Ensembl chrNW_004936512:9,922,523...9,929,517
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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 chrNW_004936578:6,116,117...6,151,244
Ensembl chrNW_004936578:6,116,068...6,151,297
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G |
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 chrNW_004936512:9,923,593...9,929,517
Ensembl chrNW_004936512:9,922,523...9,929,517
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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 chrNW_004936512:9,923,593...9,929,517
Ensembl chrNW_004936512:9,922,523...9,929,517
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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 chrNW_004936529:4,340,131...4,474,884
Ensembl chrNW_004936529:4,361,424...4,474,436
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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 chrNW_004936682:2,126,394...2,161,672
Ensembl chrNW_004936682:2,057,190...2,164,429
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G |
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 chrNW_004936600:2,084,854...2,133,028
Ensembl chrNW_004936600:2,091,150...2,132,173
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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 chrNW_004936594:944,936...950,537
Ensembl chrNW_004936594:944,944...949,838
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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 chrNW_004936509:2,508,446...2,587,643
Ensembl chrNW_004936509:2,508,375...2,587,669
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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 chrNW_004936594:912,302...944,819
Ensembl chrNW_004936594:912,291...946,012
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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 chrNW_004936557:3,429,488...3,487,995
Ensembl chrNW_004936557:3,450,247...3,487,954
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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 chrNW_004936481:6,588,797...6,647,167
Ensembl chrNW_004936481:6,588,865...6,647,188
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LOC101971816 |
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 chrNW_004936550:3,121,163...3,357,517
Ensembl chrNW_004936550:3,122,089...3,355,319
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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 chrNW_004936600:2,084,854...2,133,028
Ensembl chrNW_004936600:2,091,150...2,132,173
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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 chrNW_004936557:3,429,488...3,487,995
Ensembl chrNW_004936557:3,450,247...3,487,954
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LOC101971816 |
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 chrNW_004936550:3,121,163...3,357,517
Ensembl chrNW_004936550:3,122,089...3,355,319
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G |
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 chrNW_004936557:3,429,488...3,487,995
Ensembl chrNW_004936557:3,450,247...3,487,954
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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 chrNW_004936481:6,588,797...6,647,167
Ensembl chrNW_004936481:6,588,865...6,647,188
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LOC101971816 |
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 chrNW_004936550:3,121,163...3,357,517
Ensembl chrNW_004936550:3,122,089...3,355,319
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G |
LOC101971816 |
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 chrNW_004936550:3,121,163...3,357,517
Ensembl chrNW_004936550:3,122,089...3,355,319
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G |
LOC101971816 |
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 chrNW_004936550:3,121,163...3,357,517
Ensembl chrNW_004936550:3,122,089...3,355,319
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G |
LOC101971816 |
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 chrNW_004936550:3,121,163...3,357,517
Ensembl chrNW_004936550:3,122,089...3,355,319
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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 chrNW_004936481:6,588,797...6,647,167
Ensembl chrNW_004936481:6,588,865...6,647,188
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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 chrNW_004936481:6,588,797...6,647,167
Ensembl chrNW_004936481:6,588,865...6,647,188
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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 chrNW_004936600:2,084,854...2,133,028
Ensembl chrNW_004936600:2,091,150...2,132,173
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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 chrNW_004936594:944,936...950,537
Ensembl chrNW_004936594:944,944...949,838
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G |
Itgb4 |
integrin subunit beta 4 |
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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 |
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 chrNW_004936594:912,302...944,819
Ensembl chrNW_004936594:912,291...946,012
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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 chrNW_004936490:11,553,904...11,583,387
Ensembl chrNW_004936490:11,553,861...11,583,380
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G |
Itga6 |
integrin subunit alpha 6 |
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ISO |
OMIM:226700 |
MouseDO |
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NCBI chrNW_004936509:2,508,446...2,587,643
Ensembl chrNW_004936509:2,508,375...2,587,669
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G |
Lamb3 |
laminin subunit beta 3 |
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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 chrNW_004936557:3,429,488...3,487,995
Ensembl chrNW_004936557:3,450,247...3,487,954
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G |
Lamc2 |
laminin subunit gamma 2 |
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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 chrNW_004936481:6,588,797...6,647,167
Ensembl chrNW_004936481:6,588,865...6,647,188
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G |
LOC101971816 |
laminin subunit alpha-3 |
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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 chrNW_004936550:3,121,163...3,357,517
Ensembl chrNW_004936550:3,122,089...3,355,319
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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 chrNW_004936474:24,205,878...24,236,611
Ensembl chrNW_004936474:24,206,644...24,236,713
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G |
Col17a1 |
collagen type XVII alpha 1 chain |
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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 chrNW_004936600:2,084,854...2,133,028
Ensembl chrNW_004936600:2,091,150...2,132,173
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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 chrNW_004936594:944,936...950,537
Ensembl chrNW_004936594:944,944...949,838
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G |
Itgb4 |
integrin subunit beta 4 |
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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 chrNW_004936594:912,302...944,819
Ensembl chrNW_004936594:912,291...946,012
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G |
Lamb3 |
laminin subunit beta 3 |
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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 chrNW_004936557:3,429,488...3,487,995
Ensembl chrNW_004936557:3,450,247...3,487,954
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G |
Lamc2 |
laminin subunit gamma 2 |
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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 chrNW_004936481:6,588,797...6,647,167
Ensembl chrNW_004936481:6,588,865...6,647,188
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G |
LOC101971816 |
laminin subunit alpha-3 |
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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 chrNW_004936550:3,121,163...3,357,517
Ensembl chrNW_004936550:3,122,089...3,355,319
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G |
Galk1 |
galactokinase 1 |
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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 chrNW_004936594:944,936...950,537
Ensembl chrNW_004936594:944,944...949,838
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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 chrNW_004936509:2,508,446...2,587,643
Ensembl chrNW_004936509:2,508,375...2,587,669
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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 chrNW_004936594:912,302...944,819
Ensembl chrNW_004936594:912,291...946,012
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G |
LOC101957084 |
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 chrNW_004936470:8,194,124...8,252,139
Ensembl chrNW_004936470:8,216,205...8,250,978
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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 chrNW_004936788:1,125,332...1,264,372
Ensembl chrNW_004936788:1,174,544...1,262,746
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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 chrNW_004936485:12,985,552...13,016,997
Ensembl chrNW_004936485:12,985,552...13,016,906
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G |
Galk1 |
galactokinase 1 |
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ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 1C, localized |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chrNW_004936594:944,936...950,537
Ensembl chrNW_004936594:944,944...949,838
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G |
Itgb4 |
integrin subunit beta 4 |
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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 chrNW_004936594:912,302...944,819
Ensembl chrNW_004936594:912,291...946,012
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G |
Krt5 |
keratin 5 |
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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 chrNW_004936512:9,923,593...9,929,517
Ensembl chrNW_004936512:9,922,523...9,929,517
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G |
Krt5 |
keratin 5 |
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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 chrNW_004936512:9,923,593...9,929,517
Ensembl chrNW_004936512:9,922,523...9,929,517
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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 chrNW_004936588:3,985,732...4,023,221
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G |
Cast |
calpastatin |
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ISO |
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RGD |
PMID:16314468 |
RGD:5509814 |
NCBI chrNW_004936523:6,688,153...6,798,184
Ensembl chrNW_004936523:6,686,519...6,798,321
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G |
Cat |
catalase |
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ISO |
protein:increased activities:skin: |
RGD |
PMID:22738420 |
RGD:9479165 |
NCBI chrNW_004936533:3,601,270...3,637,128
Ensembl chrNW_004936533:3,600,955...3,637,422
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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 chrNW_004936810:791,823...838,303
Ensembl chrNW_004936810:758,182...838,365
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G |
Cd40 |
CD40 molecule |
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ISO |
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RGD |
PMID:21255096 |
RGD:5490304 |
NCBI chrNW_004936514:6,936,915...6,947,246
Ensembl chrNW_004936514:6,936,572...6,947,280
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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 chrNW_004936513:10,607,617...10,620,403
Ensembl chrNW_004936513:10,607,617...10,620,403
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G |
Il2 |
interleukin 2 |
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ISO |
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RGD |
PMID:6432916 |
RGD:8693324 |
NCBI chrNW_004936662:1,594,953...1,599,625
Ensembl chrNW_004936662:1,594,953...1,599,625
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G |
Dsg3 |
desmoglein 3 |
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ISO |
OMIM:169610 |
MouseDO |
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NCBI chrNW_004936682:1,738,615...1,764,216
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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 chrNW_004936529:348,938...381,701
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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 chrNW_004936529:348,938...381,701
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Grip1 |
glutamate receptor interacting protein 1 |
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ISO |
OMIM:226600 |
MouseDO |
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NCBI chrNW_004936545:4,353,056...4,606,196
Ensembl chrNW_004936545:4,353,040...5,002,725
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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 chrNW_004936551:5,167,909...5,175,149
Ensembl chrNW_004936551:5,168,044...5,174,857
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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 chrNW_004936740:979,007...987,312
Ensembl chrNW_004936740:986,460...987,361
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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 chrNW_004936474:8,007,953...8,010,591
Ensembl chrNW_004936474:8,008,534...8,010,191
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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 chrNW_004936589:2,504,235...2,536,778
Ensembl chrNW_004936589:2,504,224...2,537,170
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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 chrNW_004936484:3,904,726...4,401,560
Ensembl chrNW_004936484:3,904,720...4,399,567
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Cfp |
complement factor properdin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:34142820 |
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NCBI chrNW_004936502:13,391,613...13,398,723
Ensembl chrNW_004936502:13,391,535...13,397,440
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Clu |
clusterin |
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ISO |
mRNA:decreased expression:conjunctiva |
RGD |
PMID:12036968 |
RGD:8699507 |
NCBI chrNW_004936675:499,745...513,515
Ensembl chrNW_004936675:499,199...513,836
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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 chrNW_004936496:7,035,973...7,050,538
Ensembl chrNW_004936496:7,035,924...7,050,786
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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 chrNW_004936740:885,855...888,854
Ensembl chrNW_004936740:883,272...890,606
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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 chrNW_004936490:15,142,526...15,146,375
Ensembl chrNW_004936490:15,142,808...15,144,487
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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 chrNW_004936473:29,999,542...30,034,610
Ensembl chrNW_004936473:29,999,562...30,038,293
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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 chrNW_004936527:4,971,002...5,019,465
Ensembl chrNW_004936527:4,971,000...5,019,562
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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 chrNW_004936472:409,083...432,442
Ensembl chrNW_004936472:408,659...432,379
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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 chrNW_004936470:24,262,401...24,286,713
Ensembl chrNW_004936470:24,262,091...24,286,577
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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 chrNW_004936478:12,308,255...12,754,957
Ensembl chrNW_004936478:12,306,450...12,754,963
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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 chrNW_004936492:696,982...778,132
Ensembl chrNW_004936492:696,960...778,138
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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 chrNW_004936474:531,873...538,596
Ensembl chrNW_004936474:533,254...542,907
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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 chrNW_004936545:6,139,130...6,144,543
Ensembl chrNW_004936545:6,139,116...6,148,452
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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 chrNW_004936561:3,017,471...3,035,481
Ensembl chrNW_004936561:3,016,926...3,035,552
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LOC101960229 |
complement C1q subcomponent subunit C |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:34142820 |
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NCBI chrNW_004936474:8,013,395...8,016,937
Ensembl chrNW_004936474:8,013,359...8,016,959
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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 chrNW_004936588:2,638,597...2,640,856
Ensembl chrNW_004936588:2,638,601...2,640,868
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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 chrNW_004936619:1,207,058...1,208,010
Ensembl chrNW_004936619:1,203,746...1,208,442
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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 chrNW_004936471:17,254,777...17,374,725
Ensembl chrNW_004936471:17,252,234...17,374,804
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Nfkbiz |
NFKB inhibitor zeta |
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ISO |
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MouseDO |
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NCBI chrNW_004936630:1,601,006...1,633,844
Ensembl chrNW_004936630:1,601,010...1,632,745
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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 chrNW_004936538:4,052,277...4,097,051
Ensembl chrNW_004936538:4,052,448...4,097,051
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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 chrNW_004936664:2,924,186...2,946,035
Ensembl chrNW_004936664:2,924,719...2,945,178
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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 chrNW_004936526:3,102,468...3,147,601
Ensembl chrNW_004936526:3,102,039...3,147,642
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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 chrNW_004936471:33,135,186...33,173,218
Ensembl chrNW_004936471:33,135,164...33,177,666
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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 chrNW_004936666:18,303...110,357
Ensembl chrNW_004936666:19,387...110,014
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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 chrNW_004936541:4,470,210...4,475,233
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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 chrNW_004936591:1,174,364...1,250,233
Ensembl chrNW_004936591:1,174,069...1,249,410
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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 chrNW_004936514:4,775,884...4,814,574
Ensembl chrNW_004936514:4,791,031...4,812,027
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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 chrNW_004936565:1,596,227...1,746,706
Ensembl chrNW_004936565:1,597,593...1,746,846
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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 chrNW_004936492:872,316...890,860
Ensembl chrNW_004936492:873,576...890,835
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Tnf |
tumor necrosis factor |
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ISO |
protein:increased expression:blister: |
RGD |
PMID:9852250 |
RGD:7401184 |
NCBI chrNW_004936727:1,936,066...1,937,766
Ensembl chrNW_004936727:1,936,066...1,937,766
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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 chrNW_004936524:3,085,959...3,102,461
Ensembl chrNW_004936524:3,085,500...3,102,466
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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 chrNW_004936709:1,578,137...1,741,877
Ensembl chrNW_004936709:1,579,096...1,741,754
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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 chrNW_004936529:348,938...381,701
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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 chrNW_004936485:12,985,552...13,016,997
Ensembl chrNW_004936485:12,985,552...13,016,906
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