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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_004955403:45,605,870...45,624,386
Ensembl chrNW_004955403:45,605,510...45,624,402
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G |
Odc1 |
ornithine decarboxylase 1 |
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ISO |
OMIM:209500 |
MouseDO |
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NCBI chrNW_004955487:5,603,722...5,608,386
Ensembl chrNW_004955487:5,603,722...5,608,386
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G |
Col7a1 |
collagen type VII alpha 1 chain |
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ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa dystrophica, autosomal dominant |
OMIM ClinVar |
PMID:1680286 PMID:2425097 PMID:5910871 PMID:7577595 PMID:7695699 PMID:7738360 PMID:7833933 PMID:7861014 PMID:8088783 PMID:8170945 PMID:8218237 PMID:8288900 PMID:8345225 PMID:8618004 PMID:8618021 PMID:8644729 PMID:8644730 PMID:8752681 PMID:8755915 PMID:9215684 PMID:9242516 PMID:9326325 PMID:9347800 PMID:9536098 PMID:9666834 PMID:9668111 PMID:9740253 PMID:9804332 PMID:9856843 PMID:9856844 PMID:9881948 PMID:9892921 PMID:10084325 PMID:10232408 PMID:10233777 PMID:10383749 PMID:10408773 PMID:10469344 PMID:10504458 PMID:10836608 PMID:11710955 PMID:11781296 PMID:11874498 PMID:11952672 PMID:12207583 PMID:12485454 PMID:12735646 PMID:12787275 PMID:12813757 PMID:14616374 PMID:15816848 PMID:15888141 PMID:16189623 PMID:16199547 PMID:16271705 PMID:16484981 PMID:16557343 PMID:16965329 PMID:16971468 PMID:16971478 PMID:17336503 PMID:17425959 PMID:17576681 PMID:17916216 PMID:18429782 PMID:18440202 PMID:18951764 PMID:19197535 PMID:19269793 PMID:19344236 PMID:19665875 PMID:19681861 PMID:20357813 PMID:20598510 PMID:20920254 PMID:21269315 PMID:21448560 PMID:21471992 PMID:22058051 PMID:22266148 PMID:23237810 PMID:23397949 PMID:23786535 PMID:23947675 PMID:24032424 PMID:24033266 PMID:24210835 PMID:24317394 PMID:24599399 PMID:24794830 PMID:24947307 PMID:25201089 PMID:25222259 PMID:25525159 PMID:25741868 PMID:26039182 PMID:26076072 PMID:26102279 PMID:26148662 PMID:26446410 PMID:26467025 PMID:26763448 PMID:26864810 PMID:27153395 PMID:27899325 PMID:28492532 PMID:28830826 PMID:29473190 PMID:29500833 PMID:29963685 PMID:30280950 PMID:31001817 PMID:31670143 PMID:31709745 PMID:31930626 PMID:32383240 PMID:32506467 PMID:32860008 PMID:33587123 PMID:34435747 PMID:35979658 PMID:36287101 More...
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NCBI chrNW_004955532:650,913...681,186
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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_004955506:6,493,466...6,526,778
Ensembl chrNW_004955506:6,493,466...6,526,778
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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_004955547:2,926,154...2,931,954
Ensembl chrNW_004955547:2,773,523...2,932,609
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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_004955487:5,180,241...5,218,298
Ensembl chrNW_004955487:5,180,252...5,218,216
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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_004955512:5,686,508...5,703,645
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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 |
ClinVar OMIM |
PMID:25741868 PMID:30528827 |
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NCBI chrNW_004955402:18,781,511...18,811,675
Ensembl chrNW_004955402:18,790,243...18,810,305
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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_004955456:14,554,583...14,558,967
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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_004955437:461,235...466,908
Ensembl chrNW_004955437:461,235...470,464
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G |
Cxcl8 |
C-X-C motif chemokine ligand 8 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11359455 |
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NCBI chrNW_004955474:247,326...250,355
Ensembl chrNW_004955474:241,501...250,643
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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_004955422:1,356,675...1,367,788
Ensembl chrNW_004955422:1,356,769...1,367,517
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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_004955495:1,561,464...1,573,282
Ensembl chrNW_004955495:1,561,714...1,574,755
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G |
Il2 |
interleukin 2 |
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ISO |
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RGD |
PMID:1973607 |
RGD:8663461 |
NCBI chrNW_004955428:18,163,010...18,168,157
Ensembl chrNW_004955428:18,162,467...18,168,265
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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_004955445:11,295,500...11,303,322
Ensembl chrNW_004955445:11,295,448...11,303,288
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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_004955437:9,527,445...9,541,908
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G |
Clu |
clusterin |
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ISO |
mRNA:decreased expression:conjunctiva |
RGD |
PMID:12036968 |
RGD:8699507 |
NCBI chrNW_004955403:50,160,598...50,175,876
Ensembl chrNW_004955403:50,160,598...50,175,876
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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_004955470:1,145,022...1,159,413
Ensembl chrNW_004955470:1,144,810...1,159,471
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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_004955423:21,096,926...21,164,435
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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_004955437:117,267...119,899
Ensembl chrNW_004955437:117,206...120,700
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G |
Eln |
elastin |
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ISO |
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RGD |
PMID:8256113 |
RGD:9585750 |
NCBI chrNW_004955456:13,788,992...13,818,836
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G |
Lta |
lymphotoxin alpha |
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ISO |
DNA:polymorphism |
RGD |
PMID:7914110 |
RGD:8548777 |
NCBI chrNW_004955437:114,216...116,003
Ensembl chrNW_004955437:114,640...115,529
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G |
Tnf |
tumor necrosis factor |
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ISO |
DNA:polymorphism:promoter |
RGD |
PMID:7914110 |
RGD:8548777 |
NCBI chrNW_004955437:117,267...119,899
Ensembl chrNW_004955437:117,206...120,700
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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_004955437:9,527,445...9,541,908
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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_004955456:14,554,583...14,558,967
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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_004955532:650,913...681,186
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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_004955412:10,604,853...10,674,683
Ensembl chrNW_004955412:10,604,772...10,674,749
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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_004955449:2,590,982...2,665,887
Ensembl chrNW_004955449:2,590,982...2,665,887
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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_004955506:6,493,466...6,526,778
Ensembl chrNW_004955506:6,493,466...6,526,778
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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_004955547:2,926,154...2,931,954
Ensembl chrNW_004955547:2,773,523...2,932,609
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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_004955489:2,547,611...2,603,079
Ensembl chrNW_004955489:2,568,650...2,607,595
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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_004955532:650,913...681,186
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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_004955456:6,795,560...6,802,147
Ensembl chrNW_004955456:6,795,604...6,800,845
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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_004955532:650,913...681,186
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G |
Col7a1 |
collagen type VII alpha 1 chain |
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ISO |
ClinVar Annotator: match by term: DYSTROPHIC EPIDERMOLYSIS BULLOSA PRURIGINOSA | ClinVar Annotator: match by term: Epidermolysis bullosa pruriginosa | ClinVar Annotator: match by term: Epidermolysis bullosa pruriginosa, autosomal dominant | ClinVar Annotator: match by term: Epidermolysis bullosa pruriginosa, autosomal recessive |
OMIM ClinVar |
PMID:7695699 PMID:7833933 PMID:8088783 PMID:8218237 PMID:8644730 PMID:8755915 PMID:9182828 PMID:9242516 PMID:9326325 PMID:9536098 PMID:9666834 PMID:9718359 PMID:9804332 PMID:9856844 PMID:9881948 PMID:10367729 PMID:10383749 PMID:10408773 PMID:10504458 PMID:10836608 PMID:11781296 PMID:12207583 PMID:12485454 PMID:12787275 PMID:12813757 PMID:15816848 PMID:15888141 PMID:16199547 PMID:16271705 PMID:16965329 PMID:16971478 PMID:17425959 PMID:17434045 PMID:17576681 PMID:18429782 PMID:18440202 PMID:18951764 PMID:19344236 PMID:19665875 PMID:19681861 PMID:20357813 PMID:20598510 PMID:20920254 PMID:21448560 PMID:21471992 PMID:22058051 PMID:22209565 PMID:22266148 PMID:23237810 PMID:23947675 PMID:24032424 PMID:24033266 PMID:24210835 PMID:24599399 PMID:24947307 PMID:25201089 PMID:25525159 PMID:25741868 PMID:26076072 PMID:26102279 PMID:26148662 PMID:26446410 PMID:26467025 PMID:26763448 PMID:27153395 PMID:27899325 PMID:28492532 PMID:28830826 PMID:29473190 PMID:30280950 PMID:31001817 PMID:31670143 PMID:31930626 PMID:32383240 PMID:32484238 PMID:32860008 PMID:33274474 PMID:33587123 PMID:34046686 PMID:34435747 PMID:34597860 PMID:35598269 PMID:35979658 PMID:36287101 More...
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NCBI chrNW_004955532:650,913...681,186
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G |
Itgb4 |
integrin subunit beta 4 |
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ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Cockayne-Touraine type |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chrNW_004955506:6,493,466...6,526,778
Ensembl chrNW_004955506:6,493,466...6,526,778
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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_004955547:2,926,154...2,931,954
Ensembl chrNW_004955547:2,773,523...2,932,609
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G |
Mmp9 |
matrix metallopeptidase 9 |
|
ISO |
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RGD |
PMID:23894602 |
RGD:13204851 |
NCBI chrNW_004955445:11,295,500...11,303,322
Ensembl chrNW_004955445:11,295,448...11,303,288
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G |
Plec |
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_004955454:2,583,138...2,644,308
Ensembl chrNW_004955454:2,583,138...2,643,211
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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_004955547:2,926,154...2,931,954
Ensembl chrNW_004955547:2,773,523...2,932,609
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G |
Dst |
dystonin |
|
ISO |
ClinVar Annotator: match by term: DST-related condition | ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX 3, LOCALIZED OR GENERALIZED INTERMEDIATE, WITH BP230 DEFICIENCY | ClinVar Annotator: match by term: Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency | ClinVar Annotator: match by term: Epidermolysis bullosa simplex, autosomal recessive 2 |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:20164846 PMID:22113475 PMID:22522446 PMID:24033266 PMID:25059916 PMID:25741868 PMID:25790160 PMID:28492532 PMID:30371979 PMID:31474762 PMID:33471381 More...
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NCBI chrNW_004955502:3,175,918...3,610,823
Ensembl chrNW_004955502:3,267,527...3,610,823
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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_004955412:10,604,853...10,674,683
Ensembl chrNW_004955412:10,604,772...10,674,749
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Plec |
plectin |
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ISO |
ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX 5C, WITH PYLORIC ATRESIA | ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5C, with pyloric atresia | ClinVar Annotator: match by term: Epidermolysis bullosa simplex with pyloric atresia |
OMIM ClinVar |
PMID:9536098 PMID:11851880 PMID:14675180 PMID:15206692 PMID:15654962 PMID:15681471 PMID:15810881 PMID:17576681 PMID:20301336 PMID:21263134 PMID:22144912 PMID:22854623 PMID:23757202 PMID:23774525 PMID:24033266 PMID:25712130 PMID:25741868 PMID:26467025 PMID:26498160 PMID:28492532 PMID:29050564 PMID:29453417 PMID:30691450 PMID:30919572 PMID:31862442 PMID:32017015 PMID:32576226 More...
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NCBI chrNW_004955454:2,583,138...2,644,308
Ensembl chrNW_004955454:2,583,138...2,643,211
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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_004955471:2,757,063...3,052,565
Ensembl chrNW_004955471:2,804,162...3,052,565
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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_004955439:608,849...641,005
Ensembl chrNW_004955439:608,861...641,005
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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_004955404:463,238...491,385
Ensembl chrNW_004955404:463,238...493,047
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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_004955431:7,364,937...7,541,419
Ensembl chrNW_004955431:7,364,937...7,541,648
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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_004955409:29,124,200...29,130,823
Ensembl chrNW_004955409:29,124,200...29,130,823
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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_004955498:1,863,002...1,886,720
Ensembl chrNW_004955498:1,860,628...1,886,867
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Plec |
plectin |
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ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy |
OMIM ClinVar |
PMID:9536098 PMID:11851880 PMID:15206692 PMID:15659326 PMID:15810881 PMID:17576681 PMID:20301336 PMID:20447487 PMID:21109228 PMID:21263134 PMID:22144912 PMID:22854623 PMID:23289980 PMID:23757202 PMID:23774525 PMID:24033266 PMID:25712130 PMID:25741868 PMID:26467025 PMID:26498160 PMID:28492532 PMID:28824526 PMID:28830826 PMID:29050564 PMID:29453417 PMID:30691450 PMID:30919572 PMID:31862442 PMID:32017015 PMID:32576226 PMID:32725257 More...
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NCBI chrNW_004955454:2,583,138...2,644,308
Ensembl chrNW_004955454:2,583,138...2,643,211
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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_004955403:52,180,612...52,200,569
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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_004955454:2,974,713...2,976,454
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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_004955476:11,294,359...11,298,990
Ensembl chrNW_004955476:11,294,359...11,337,825
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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_004955547:2,926,154...2,931,954
Ensembl chrNW_004955547:2,773,523...2,932,609
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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_004955420:23,700,030...23,733,021
Ensembl chrNW_004955420:23,700,035...23,735,301
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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_004955547:2,926,154...2,931,954
Ensembl chrNW_004955547:2,773,523...2,932,609
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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_004955506:6,493,466...6,526,778
Ensembl chrNW_004955506:6,493,466...6,526,778
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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_004955547:2,926,154...2,931,954
Ensembl chrNW_004955547:2,773,523...2,932,609
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Plec |
plectin |
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ISO |
ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX 5A, OGNA TYPE | ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Ogna type |
OMIM ClinVar |
PMID:9536098 PMID:11851880 PMID:15206692 PMID:15810881 PMID:17576681 PMID:18414213 PMID:20016501 PMID:20301336 PMID:21263134 PMID:22144912 PMID:22854623 PMID:22864774 PMID:23757202 PMID:23774525 PMID:24033266 PMID:25741868 PMID:26467025 PMID:26498160 PMID:28400893 PMID:28492532 PMID:29050564 PMID:29334134 PMID:29453417 PMID:30691450 PMID:30919572 PMID:31862442 PMID:32017015 PMID:32576226 More...
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NCBI chrNW_004955454:2,583,138...2,644,308
Ensembl chrNW_004955454:2,583,138...2,643,211
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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_004955547:2,926,154...2,931,954
Ensembl chrNW_004955547:2,773,523...2,932,609
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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_004955454:3,006,851...3,024,430
Ensembl chrNW_004955454:3,006,845...3,024,426
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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_004955454:2,882,694...2,907,177
Ensembl chrNW_004955454:2,882,755...2,907,081
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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_004955454:2,394,109...2,396,694
Ensembl chrNW_004955454:2,394,782...2,396,241
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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_004955454:3,024,324...3,039,004
Ensembl chrNW_004955454:3,024,406...3,039,425
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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_004955454:2,933,904...2,944,675
Ensembl chrNW_004955454:2,934,152...2,944,492
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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_004955454:2,284,892...2,299,169
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Eppk1 |
epiplakin 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_004955454:2,512,151...2,526,080
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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_004955454:2,732,308...2,734,398
Ensembl chrNW_004955454:2,732,308...2,734,398
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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_004955454:2,421,393...2,436,012
Ensembl chrNW_004955454:2,422,237...2,427,194
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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_004955454:2,976,812...2,979,835
Ensembl chrNW_004955454:2,976,894...2,979,785
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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_004955454:3,094,015...3,096,060
Ensembl chrNW_004955454:3,094,033...3,095,512
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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_004955454:2,313,172...2,317,829
Ensembl chrNW_004955454:2,313,172...2,317,829
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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_004955454:1,996,256...2,004,848
Ensembl chrNW_004955454:1,996,426...2,004,848
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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_004955454:1,724,929...1,735,380
Ensembl chrNW_004955454:1,724,859...1,735,424
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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_004955454:2,735,463...2,738,956
Ensembl chrNW_004955454:2,735,463...2,738,956
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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_004955454:1,965,627...1,972,479
Ensembl chrNW_004955454:1,970,626...1,973,743
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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_004955454:3,127,997...3,132,459
Ensembl chrNW_004955454:3,127,997...3,132,459
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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_004955454:2,657,374...2,660,591
Ensembl chrNW_004955454:2,658,490...2,660,021
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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_004955454:2,265,759...2,270,569
Ensembl chrNW_004955454:2,265,753...2,271,655
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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_004955454:2,788,014...2,790,902
Ensembl chrNW_004955454:2,788,020...2,789,783
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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_004955454:2,907,265...2,932,352
Ensembl chrNW_004955454:2,907,265...2,932,351
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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_004955454:3,087,168...3,093,916
Ensembl chrNW_004955454:3,087,437...3,093,190
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LOC102023109 |
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_004955454:2,758,935...2,760,569
Ensembl chrNW_004955454:2,758,292...2,760,376
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G |
Ly6d |
lymphocyte antigen 6 family member D |
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ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955454:1,473,405...1,474,950
Ensembl chrNW_004955454:1,473,191...1,475,038
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G |
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_004955454:1,900,316...1,902,907
Ensembl chrNW_004955454:1,900,521...1,902,883
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G |
Maf1 |
MAF1 homolog, negative regulator of RNA polymerase III |
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ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chrNW_004955454:2,765,966...2,769,260
Ensembl chrNW_004955454:2,765,966...2,769,260
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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_004955454:2,134,340...2,136,962
Ensembl chrNW_004955454:2,135,484...2,136,560
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G |
Mapk15 |
mitogen-activated protein kinase 15 |
|
ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chrNW_004955454:2,413,393...2,420,703
Ensembl chrNW_004955454:2,413,822...2,419,276
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G |
Mfsd3 |
major facilitator superfamily domain containing 3 |
|
ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955454:3,132,761...3,139,501
Ensembl chrNW_004955454:3,132,762...3,136,109
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G |
Mroh1 |
maestro heat like repeat family member 1 |
|
ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chrNW_004955454:2,799,727...2,882,610
Ensembl chrNW_004955454:2,799,728...2,882,610
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G |
Mroh6 |
maestro heat like repeat family member 6 |
|
ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chrNW_004955454:2,273,127...2,279,674
Ensembl chrNW_004955454:2,274,074...2,278,756
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G |
Naprt |
nicotinate phosphoribosyltransferase |
|
ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chrNW_004955454:2,280,223...2,283,613
Ensembl chrNW_004955454:2,280,223...2,283,613
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G |
Nrbp2 |
nuclear receptor binding protein 2 |
|
ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chrNW_004955454:2,500,360...2,507,372
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G |
Oplah |
5-oxoprolinase, ATP-hydrolysing |
|
ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chrNW_004955454:2,707,819...2,735,375
Ensembl chrNW_004955454:2,707,819...2,720,992
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G |
Parp10 |
poly(ADP-ribose) polymerase family member 10 |
|
ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chrNW_004955454:2,644,718...2,651,962
Ensembl chrNW_004955454:2,645,003...2,651,604
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G |
Plec |
plectin |
|
ISO |
ClinVar Annotator: match by term: Epidermolysa bullosa simplex and limb girdle muscular dystrophy | ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy | ClinVar Annotator: match by term: Epidermolysis bullosa simplex with muscular dystrophy |
OMIM ClinVar |
PMID:8696340 PMID:8830774 PMID:8894687 PMID:9536098 PMID:9886273 PMID:10446808 PMID:10652001 PMID:10652002 PMID:11851880 PMID:12071635 PMID:15206692 PMID:15654962 PMID:15659326 PMID:15810881 PMID:16199547 PMID:17576681 PMID:18414213 PMID:19945614 PMID:20016501 PMID:20052759 PMID:20301336 PMID:20447487 PMID:20665883 PMID:21109228 PMID:21263134 PMID:22144912 PMID:22854623 PMID:22864774 PMID:23289980 PMID:23757202 PMID:23774525 PMID:24033266 PMID:24253200 PMID:25454730 PMID:25640679 PMID:25741868 PMID:25987458 PMID:26467025 PMID:26498160 PMID:27234031 PMID:27392081 PMID:27813154 PMID:28400893 PMID:28447722 PMID:28492532 PMID:28824526 PMID:28830826 PMID:29050564 PMID:29334134 PMID:29352809 PMID:29453417 PMID:29797489 PMID:29970176 PMID:30161220 PMID:30293987 PMID:30691450 PMID:30919572 PMID:31001817 PMID:31066050 PMID:31230720 PMID:31269534 PMID:31319225 PMID:31509265 PMID:31513275 PMID:31517061 PMID:31641117 PMID:31862442 PMID:32017015 PMID:32576226 PMID:32707200 PMID:32725257 PMID:33057194 PMID:34046686 PMID:34572129 PMID:35579050 PMID:35670010 PMID:35815343 PMID:35982159 PMID:38818036 More...
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NCBI chrNW_004955454:2,583,138...2,644,308
Ensembl chrNW_004955454:2,583,138...2,643,211
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G |
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 |
|
NCBI chrNW_004955454:3,097,218...3,127,896
Ensembl chrNW_004955454:3,119,774...3,128,774
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G |
Puf60 |
poly(U) binding splicing factor 60 |
|
ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chrNW_004955454:2,482,968...2,497,339
Ensembl chrNW_004955454:2,482,968...2,497,339
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G |
Pycr3 |
pyrroline-5-carboxylate reductase 3 |
|
ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chrNW_004955454:2,305,485...2,311,280
Ensembl chrNW_004955454:2,305,485...2,311,280
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G |
Recql4 |
RecQ like helicase 4 |
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ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955454:3,136,097...3,142,525
Ensembl chrNW_004955454:3,136,216...3,142,422
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G |
Rhpn1 |
rhophilin Rho GTPase binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chrNW_004955454:2,086,054...2,099,018
Ensembl chrNW_004955454:2,086,212...2,097,728
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G |
Scrib |
scribble planar cell polarity protein |
|
ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chrNW_004955454:2,461,526...2,482,734
Ensembl chrNW_004955454:2,461,760...2,482,098
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G |
Scrt1 |
scratch family transcriptional repressor 1 |
|
ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chrNW_004955454:2,948,137...2,953,955
Ensembl chrNW_004955454:2,950,663...2,953,645
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G |
Scx |
scleraxis bHLH transcription factor |
|
ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chrNW_004955454:2,886,981...2,888,829
Ensembl chrNW_004955454:2,886,981...2,888,829
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G |
Sharpin |
SHANK associated RH domain interactor |
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ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chrNW_004955454:2,761,725...2,765,929
Ensembl chrNW_004955454:2,761,725...2,765,929
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G |
Slc39a4 |
solute carrier family 39 member 4 |
|
ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chrNW_004955454:3,041,316...3,047,419
Ensembl chrNW_004955454:3,040,877...3,046,250
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G |
Slc52a2 |
solute carrier family 52 member 2 |
|
ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chrNW_004955454:2,944,169...2,982,203
Ensembl chrNW_004955454:2,979,889...2,982,203
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G |
Slurp1 |
secreted LY6/PLAUR domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955454:1,440,534...1,449,123
Ensembl chrNW_004955454:1,447,437...1,449,299 Ensembl chrNW_004955454:1,447,437...1,449,299
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G |
Spatc1 |
spermatogenesis and centriole associated 1 |
|
ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chrNW_004955454:2,675,857...2,703,729
Ensembl chrNW_004955454:2,676,247...2,703,335
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G |
Tigd5 |
tigger transposable element derived 5 |
|
ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chrNW_004955454:2,299,244...2,304,795
Ensembl chrNW_004955454:2,299,640...2,301,574
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G |
Tmem249 |
transmembrane protein 249 |
|
ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chrNW_004955454:2,974,713...2,976,454
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G |
Tonsl |
tonsoku like, DNA repair protein |
|
ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chrNW_004955454:3,054,727...3,067,785
Ensembl chrNW_004955454:3,054,400...3,068,028
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G |
Top1mt |
DNA topoisomerase I mitochondrial |
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ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chrNW_004955454:2,020,884...2,045,939
Ensembl chrNW_004955454:2,021,563...2,046,190
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G |
Vps28 |
VPS28 subunit of ESCRT-I |
|
ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chrNW_004955454:3,049,977...3,054,078
Ensembl chrNW_004955454:3,048,042...3,054,361
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G |
Zc3h3 |
zinc finger CCCH-type containing 3 |
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ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chrNW_004955454:2,145,605...2,239,643
Ensembl chrNW_004955454:2,142,062...2,239,518
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G |
Zfp41 |
ZFP41 zinc finger protein |
|
ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chrNW_004955454:1,979,990...1,994,537
Ensembl chrNW_004955454:1,979,990...1,994,537
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G |
Zftraf1 |
zinc finger TRAF-type containing 1 |
|
ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chrNW_004955454:3,069,887...3,087,172
Ensembl chrNW_004955454:3,069,887...3,086,954
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G |
Znf623 |
zinc finger protein 623 |
|
ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chrNW_004955454:2,355,353...2,366,636
Ensembl chrNW_004955454:2,355,353...2,366,636
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G |
Znf696 |
zinc finger protein 696 |
|
ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chrNW_004955454:2,015,577...2,021,102
Ensembl chrNW_004955454:2,017,085...2,025,445
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G |
Col7a1 |
collagen type VII alpha 1 chain |
|
ISO |
ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA DYSTROPHICA, BART TYPE |
OMIM ClinVar |
PMID:2425097 PMID:5910871 PMID: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_004955532:650,913...681,186
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G |
Dsp |
desmoplakin |
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ISO |
ClinVar Annotator: match by term: Lethal acantholytic epidermolysis bullosa |
OMIM ClinVar |
PMID:2450378 PMID:3198322 PMID:9536098 PMID:10395892 PMID:12101406 PMID:12802069 PMID:15210133 PMID:15941723 PMID:16175511 PMID:16199547 PMID:16774985 PMID:16917092 PMID:17576681 PMID:18382419 PMID:18632414 PMID:19597050 PMID:19863551 PMID:19924139 PMID:20031617 PMID:20129281 PMID:20152563 PMID:20302578 PMID:20400443 PMID:20435227 PMID:20524011 PMID:20525856 PMID:20613772 PMID:20716751 PMID:20738328 PMID:20829228 PMID:20857253 PMID:20864495 PMID:21062920 PMID:21264154 PMID:21397041 PMID:21606390 PMID:21606396 PMID:21636032 PMID:21723241 PMID:21756917 PMID:21859740 PMID:22214898 PMID:22216297 PMID:22995991 PMID:23137101 PMID:23292937 PMID:23299917 PMID:23381804 PMID:23396983 PMID:23465283 PMID:23514727 PMID:23524727 PMID:23651034 PMID:23671136 PMID:23861362 PMID:23891292 PMID:23911551 PMID:24033266 PMID:24055113 PMID:24070718 PMID:24125834 PMID:24448499 PMID:24503780 PMID:24825141 PMID:24981977 PMID:25163546 PMID:25196244 PMID:25225338 PMID:25227139 PMID:25351510 PMID:25447171 PMID:25516398 PMID:25525159 PMID:25550050 PMID:25569433 PMID:25616645 PMID:25637381 PMID:25661095 PMID:25676813 PMID:25691752 PMID:25693453 PMID:25741868 PMID:25765472 PMID:25819062 PMID:25820315 PMID:25856671 PMID:25979592 PMID:26073755 PMID:26099957 PMID:26138720 PMID:26187847 PMID:26220970 PMID:26230511 PMID:26272908 PMID:26332594 PMID:26383259 PMID:26399581 PMID:26498160 PMID:26569459 PMID:26585738 PMID:26604139 PMID:26606670 PMID:26656175 PMID:26675346 PMID:26743238 PMID:26833927 PMID:26899768 PMID:27000522 PMID:27054166 PMID:27097650 PMID:27135274 PMID:27153395 PMID:27194543 PMID:27329731 PMID:27332903 PMID:27435932 PMID:27532257 PMID:27698334 PMID:27707468 PMID:27884173 PMID:27930701 PMID:28008423 PMID:28045975 PMID:28074886 PMID:28087426 PMID:28254189 PMID:28255936 PMID:28288337 PMID:28301460 PMID:28341588 PMID:28416588 PMID:28471438 PMID:28473349 PMID:28492532 PMID:28527814 PMID:28600387 PMID:28611029 PMID:28759816 PMID:28790152 PMID:28798025 PMID:29062697 PMID:29095814 PMID:29178656 PMID:29192238 PMID:29247119 PMID:29253866 PMID:29511324 PMID:29590070 PMID:29606362 PMID:29607617 PMID:29618732 PMID:29633331 PMID:29750433 PMID:29759408 PMID:29802319 PMID:29885824 PMID:29915098 PMID:30086531 PMID:30165862 PMID:30276209 PMID:30354334 PMID:30382575 PMID:30398466 PMID:30615648 PMID:30685992 PMID:30699244 PMID:30731207 PMID:30775854 PMID:30820396 PMID:30847666 PMID:30919684 PMID:30975432 PMID:31073624 PMID:31110529 PMID:31114860 PMID:31118017 PMID:31333075 PMID:31378211 PMID:31402444 PMID:31514951 PMID:31534214 PMID:31568572 PMID:31638414 PMID:31737537 PMID:31770195 PMID:31785789 PMID:31983221 PMID:32114801 PMID:32277046 PMID:32372669 PMID:32516855 PMID:32600061 PMID:32659924 PMID:32746448 PMID:32826072 PMID:32879264 PMID:32880476 PMID:32931854 PMID:32942234 PMID:32969603 PMID:33029862 PMID:33082984 PMID:33232181 PMID:33313835 PMID:33500567 PMID:33552729 PMID:33652588 PMID:33684294 PMID:33722762 PMID:33762593 PMID:33857019 PMID:33874732 PMID:33996946 PMID:34026522 PMID:34033898 PMID:34290054 PMID:34298581 PMID:34317553 PMID:34352074 PMID:34389451 PMID:34815391 PMID:34935411 PMID:35008956 PMID:35026164 PMID:35087879 PMID:35444050 PMID:35581137 PMID:35819174 PMID:36178741 PMID:36431211 PMID:36672924 PMID:36768812 PMID:36868229 PMID:37589201 PMID:37904629 PMID:37936624 PMID:37937776 More...
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NCBI chrNW_004955465:6,356,970...6,391,206
Ensembl chrNW_004955465:6,356,863...6,392,207
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G |
Cd40 |
CD40 molecule |
|
ISO |
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RGD |
PMID:18050371 |
RGD:8547765 |
NCBI chrNW_004955445:11,191,817...11,202,156
Ensembl chrNW_004955445:11,190,603...11,202,093
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G |
Cd40lg |
CD40 ligand |
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ISO |
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RGD |
PMID:18050371 |
RGD:8547765 |
NCBI chrNW_004955489:8,465,571...8,477,714
Ensembl chrNW_004955489:8,465,164...8,477,746
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G |
Cd8a |
CD8 subunit alpha |
susceptibility |
ISO |
associated with adult T-cell leukemia;mRNA:increased expression:blood (human) |
RGD |
PMID:32433748 |
RGD:124715447 |
NCBI chrNW_004955424:952,595...979,159
Ensembl chrNW_004955424:952,502...978,636
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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_004955486:2,641,730...2,655,125
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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_004955437:9,527,445...9,541,908
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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_004955420:23,700,030...23,733,021
Ensembl chrNW_004955420:23,700,035...23,735,301
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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_004955547:2,926,154...2,931,954
Ensembl chrNW_004955547:2,773,523...2,932,609
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G |
Dst |
dystonin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chrNW_004955502:3,175,918...3,610,823
Ensembl chrNW_004955502:3,267,527...3,610,823
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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_004955547:2,926,154...2,931,954
Ensembl chrNW_004955547:2,773,523...2,932,609
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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_004955547:2,926,154...2,931,954
Ensembl chrNW_004955547:2,773,523...2,932,609
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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_004955547:2,926,154...2,931,954
Ensembl chrNW_004955547:2,773,523...2,932,609
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G |
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_004955420:23,700,030...23,733,021
Ensembl chrNW_004955420:23,700,035...23,735,301
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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_004955547:2,926,154...2,931,954
Ensembl chrNW_004955547:2,773,523...2,932,609
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G |
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_004955547:2,926,154...2,931,954
Ensembl chrNW_004955547:2,773,523...2,932,609
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G |
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_004955501:7,382,657...7,519,789
Ensembl chrNW_004955501:7,383,150...7,519,988
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G |
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_004955402:18,401,065...18,439,827
Ensembl chrNW_004955402:18,399,220...18,439,878
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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_004955485:6,568,178...6,616,972
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G |
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_004955506:6,489,799...6,493,354
Ensembl chrNW_004955506:6,489,800...6,493,354
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G |
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_004955449:2,590,982...2,665,887
Ensembl chrNW_004955449:2,590,982...2,665,887
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G |
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_004955506:6,493,466...6,526,778
Ensembl chrNW_004955506:6,493,466...6,526,778
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G |
Lama3 |
laminin subunit alpha 3 |
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ISO |
ClinVar Annotator: match by term: Junctional epidermolysis bullosa |
ClinVar |
PMID:9536098 PMID:10366601 PMID:11810295 PMID:11907499 PMID:12915477 PMID:15538630 PMID:16473856 PMID:17362460 PMID:17576681 PMID:17916201 PMID:22434185 PMID:23869449 PMID:25741868 PMID:27827380 PMID:28087116 PMID:28492532 More...
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NCBI chrNW_004955402:11,980,980...12,362,143
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G |
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_004955489:2,547,611...2,603,079
Ensembl chrNW_004955489:2,568,650...2,607,595
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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_004955406:22,020,330...22,074,271
Ensembl chrNW_004955406:22,020,024...22,075,942
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G |
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_004955485:6,568,178...6,616,972
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G |
Lama3 |
laminin subunit alpha 3 |
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ISO |
ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 1A, INTERMEDIATE |
ClinVar |
PMID:10366601 PMID:11810295 PMID:12915477 PMID:16473856 PMID:17362460 PMID:22434185 PMID:23869449 PMID:25741868 PMID:27827380 PMID:28087116 PMID:28492532 More...
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NCBI chrNW_004955402:11,980,980...12,362,143
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G |
Lamb3 |
laminin subunit beta 3 |
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ISO |
ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 1A, INTERMEDIATE |
OMIM ClinVar |
PMID:7550237 PMID:7698759 PMID:7706760 PMID:8824879 PMID:8983017 PMID:9205497 PMID:9242513 PMID:9767254 PMID:9856855 PMID:10577906 PMID:11023379 PMID:11298117 PMID:11451332 PMID:11689492 PMID:15311214 PMID:15373767 PMID:15538630 PMID:15663509 PMID:16439963 PMID:16473856 PMID:17476356 PMID:20301304 PMID:21801158 PMID:25708563 PMID:25741868 PMID:27062385 PMID:27375110 PMID:27480391 PMID:28492532 PMID:28830826 PMID:30544381 More...
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NCBI chrNW_004955489:2,547,611...2,603,079
Ensembl chrNW_004955489:2,568,650...2,607,595
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G |
Lama3 |
laminin subunit alpha 3 |
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ISO |
ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 1B, SEVERE |
ClinVar |
PMID:9536098 PMID:10366601 PMID:11810295 PMID:12915477 PMID:16473856 PMID:17362460 PMID:17576681 PMID:22434185 PMID:23869449 PMID:25525159 PMID:25741868 PMID:27827380 PMID:28087116 PMID:28492532 PMID:33274474 More...
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NCBI chrNW_004955402:11,980,980...12,362,143
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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_004955489:2,547,611...2,603,079
Ensembl chrNW_004955489:2,568,650...2,607,595
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G |
Lamc2 |
laminin subunit gamma 2 |
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ISO |
ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 1B, SEVERE |
ClinVar |
PMID:11907499 PMID:16199547 PMID:16473856 PMID:25741868 PMID:28492532 |
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NCBI chrNW_004955406:22,020,330...22,074,271
Ensembl chrNW_004955406:22,020,024...22,075,942
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G |
Lama3 |
laminin subunit alpha 3 |
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ISO |
ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 2A, NON-HERLITZ TYPE | ClinVar Annotator: match by term: Epidermolysis bullosa, junctional 2A, intermediate |
OMIM ClinVar |
PMID:10366601 PMID:11810295 PMID:12915477 PMID:16199547 PMID:16473856 PMID:17362460 PMID:22434185 PMID:23869449 PMID:25741868 PMID:27827380 PMID:28087116 PMID:28492532 More...
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NCBI chrNW_004955402:11,980,980...12,362,143
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G |
Lama3 |
laminin subunit alpha 3 |
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ISO |
ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 2B, HERLITZ TYPE | ClinVar Annotator: match by term: Epidermolysis bullosa, junctional 2B, severe |
ClinVar OMIM |
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_004955402:11,980,980...12,362,143
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G |
Lama3 |
laminin subunit alpha 3 |
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ISO |
ClinVar Annotator: match by term: Laryngo-onycho-cutaneous syndrome |
OMIM ClinVar |
PMID:7633458 PMID:8530087 PMID:8618022 PMID:8824879 PMID:8983017 PMID:9536098 PMID:10366601 PMID:11810295 PMID:12915477 PMID:16199547 PMID:16473856 PMID:17362460 PMID:17576681 PMID:22434185 PMID:23869449 PMID:24033266 PMID:25363238 PMID:25741868 PMID:26635394 PMID:27827380 PMID:28087116 PMID:28492532 PMID:35314946 More...
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NCBI chrNW_004955402:11,980,980...12,362,143
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G |
Lamc2 |
laminin subunit gamma 2 |
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ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa, junctional 3A, intermediate | ClinVar Annotator: match by term: LAMC2-related condition |
OMIM ClinVar |
PMID:11564184 PMID:11810295 PMID:11907499 PMID:15538630 PMID:16199547 PMID:16473856 PMID:25741868 PMID:28492532 PMID:28830826 More...
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NCBI chrNW_004955406:22,020,330...22,074,271
Ensembl chrNW_004955406:22,020,024...22,075,942
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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 |
ClinVar OMIM |
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_004955406:22,020,330...22,074,271
Ensembl chrNW_004955406:22,020,024...22,075,942
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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_004955485:6,568,178...6,616,972
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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_004955506:6,489,799...6,493,354
Ensembl chrNW_004955506:6,489,800...6,493,354
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G |
Itgb4 |
integrin subunit beta 4 |
|
ISO |
ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5A, NON-HERLITZ TYPE | ClinVar Annotator: match by term: Epidermolysis bullosa, junctional 5A, intermediate |
OMIM ClinVar |
PMID:9536098 PMID:9546354 PMID:9892956 PMID:10792571 PMID:11328943 PMID:12485428 PMID:15009117 PMID:16199547 PMID:16473856 PMID:17576681 PMID:25741868 PMID:28492532 PMID:30011071 More...
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NCBI chrNW_004955506:6,493,466...6,526,778
Ensembl chrNW_004955506:6,493,466...6,526,778
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G |
Itga3 |
integrin subunit alpha 3 |
|
ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome | ClinVar Annotator: match by term: ITGA3-related condition | ClinVar Annotator: match by term: Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital |
OMIM ClinVar |
PMID:16199547 PMID:22512483 PMID:24088041 PMID:25741868 PMID:25810266 PMID:26633545 PMID:28492532 PMID:29127259 More...
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NCBI chrNW_004955451:11,563,120...11,590,119
Ensembl chrNW_004955451:11,561,704...11,589,727
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G |
Itga6 |
integrin subunit alpha 6 |
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ISO |
OMIM:226700 |
MouseDO |
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NCBI chrNW_004955449:2,590,982...2,665,887
Ensembl chrNW_004955449:2,590,982...2,665,887
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G |
Lama3 |
laminin subunit alpha 3 |
|
ISO |
ClinVar Annotator: match by term: Herlitz-Pearson type epidermolysis bullosa | ClinVar Annotator: match by term: Herlitz-type junctional epidermolysis bullosa | ClinVar Annotator: match by term: Junctional epidermolysis bullosa gravis of Herlitz |
ClinVar |
PMID:7633458 PMID:8530087 PMID:8618022 PMID:8824879 PMID:8983017 PMID:9536098 PMID:10366601 PMID:11810295 PMID:12915477 PMID:12943669 PMID:15373767 PMID:16199547 PMID:16473856 PMID:16971478 PMID:17362460 PMID:17576681 PMID:22434185 PMID:23869449 PMID:24033266 PMID:25363238 PMID:25525159 PMID:25741868 PMID:26635394 PMID:27375110 PMID:27827380 PMID:28087116 PMID:28492532 PMID:33274474 More...
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NCBI chrNW_004955402:11,980,980...12,362,143
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G |
Lamb3 |
laminin subunit beta 3 |
|
ISO |
ClinVar Annotator: match by term: Herlitz-Pearson type epidermolysis bullosa | ClinVar Annotator: match by term: Herlitz-type junctional epidermolysis bullosa | ClinVar Annotator: match by term: Junctional epidermolysis bullosa gravis of Herlitz |
ClinVar |
PMID:7550237 PMID:7698759 PMID:7706760 PMID:8362910 PMID:8541876 PMID:8755931 PMID:8824879 PMID:8983017 PMID:9160387 PMID:9205497 PMID:9242513 PMID:9326326 PMID:9457915 PMID:9579554 PMID:9690563 PMID:9767254 PMID:9856852 PMID:9856855 PMID:10577906 PMID:11023379 PMID:11296269 PMID:11298117 PMID:11451332 PMID:11689492 PMID:11810295 PMID:12813757 PMID:15311214 PMID:15373767 PMID:15538630 PMID:15663509 PMID:15725250 PMID:16199547 PMID:16403119 PMID:16439963 PMID:16473856 PMID:16971478 PMID:17476356 PMID:20301304 PMID:21801158 PMID:22931927 PMID:23278291 PMID:24033266 PMID:24617447 PMID:24947307 PMID:25525159 PMID:25708563 PMID:25741868 PMID:25950805 PMID:27062385 PMID:27375110 PMID:27480391 PMID:28087116 PMID:28392661 PMID:28492532 PMID:28830826 PMID:29334134 PMID:29364557 PMID:29900604 PMID:30544381 PMID:32484238 PMID:34231856 More...
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NCBI chrNW_004955489:2,547,611...2,603,079
Ensembl chrNW_004955489:2,568,650...2,607,595
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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_004955406:22,020,330...22,074,271
Ensembl chrNW_004955406:22,020,024...22,075,942
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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_004955537:2,408,042...2,438,788
Ensembl chrNW_004955537:2,408,042...2,439,511
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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_004955485:6,568,178...6,616,972
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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_004955506:6,489,799...6,493,354
Ensembl chrNW_004955506:6,489,800...6,493,354
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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_004955506:6,493,466...6,526,778
Ensembl chrNW_004955506:6,493,466...6,526,778
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G |
Lama3 |
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_004955402:11,980,980...12,362,143
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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_004955489:2,547,611...2,603,079
Ensembl chrNW_004955489:2,568,650...2,607,595
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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_004955406:22,020,330...22,074,271
Ensembl chrNW_004955406:22,020,024...22,075,942
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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_004955506:6,489,799...6,493,354
Ensembl chrNW_004955506:6,489,800...6,493,354
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Itga6 |
integrin subunit alpha 6 |
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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_004955449:2,590,982...2,665,887
Ensembl chrNW_004955449:2,590,982...2,665,887
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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_004955506:6,493,466...6,526,778
Ensembl chrNW_004955506:6,493,466...6,526,778
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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_004955502:4,219,067...4,356,988
Ensembl chrNW_004955502:4,218,885...4,356,988
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Plec |
plectin |
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ISO |
ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5B, WITH PYLORIC ATRESIA | ClinVar Annotator: match by term: Junctional epidermolysis bullosa with pyloric atresia |
ClinVar |
PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chrNW_004955454:2,583,138...2,644,308
Ensembl chrNW_004955454:2,583,138...2,643,211
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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_004955415:16,447,921...16,483,221
Ensembl chrNW_004955415:16,446,934...16,483,369
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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_004955506:6,489,799...6,493,354
Ensembl chrNW_004955506:6,489,800...6,493,354
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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_004955506:6,493,466...6,526,778
Ensembl chrNW_004955506:6,493,466...6,526,778
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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_004955547:2,926,154...2,931,954
Ensembl chrNW_004955547:2,773,523...2,932,609
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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_004955547:2,926,154...2,931,954
Ensembl chrNW_004955547:2,773,523...2,932,609
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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_004955495:2,796,601...2,824,233
Ensembl chrNW_004955495:2,796,663...2,824,697
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G |
Cast |
calpastatin |
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ISO |
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RGD |
PMID:16314468 |
RGD:5509814 |
NCBI chrNW_004955418:15,859,951...15,974,141
Ensembl chrNW_004955418:15,862,729...15,916,169
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G |
Cat |
catalase |
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ISO |
protein:increased activities:skin: |
RGD |
PMID:22738420 |
RGD:9479165 |
NCBI chrNW_004955422:11,783,973...11,826,970
Ensembl chrNW_004955422:11,781,835...11,827,464
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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_004955410:5,003,720...5,120,903
Ensembl chrNW_004955410:5,003,668...5,075,313
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Cd40 |
CD40 molecule |
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ISO |
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RGD |
PMID:21255096 |
RGD:5490304 |
NCBI chrNW_004955445:11,191,817...11,202,156
Ensembl chrNW_004955445:11,190,603...11,202,093
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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_004955489:8,465,571...8,477,714
Ensembl chrNW_004955489:8,465,164...8,477,746
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G |
Il2 |
interleukin 2 |
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ISO |
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RGD |
PMID:6432916 |
RGD:8693324 |
NCBI chrNW_004955428:18,163,010...18,168,157
Ensembl chrNW_004955428:18,162,467...18,168,265
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G |
Mbl2 |
mannose binding lectin 2 |
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ISO |
protein:increased expression:skin: |
RGD |
PMID:21327568 |
RGD:8693728 |
NCBI chrNW_004955425:7,704,371...7,708,951
Ensembl chrNW_004955425:7,702,137...7,709,006
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G |
Dsg3 |
desmoglein 3 |
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ISO |
OMIM:169610 |
MouseDO |
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NCBI chrNW_004955402:18,781,511...18,811,675
Ensembl chrNW_004955402:18,790,243...18,810,305
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G |
Col7a1 |
collagen type VII alpha 1 chain |
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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_004955532:650,913...681,186
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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 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_004955532:650,913...681,186
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G |
Grip1 |
glutamate receptor interacting protein 1 |
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ISO |
OMIM:226600 |
MouseDO |
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NCBI chrNW_004955458:12,970,858...13,179,369
Ensembl chrNW_004955458:12,967,089...13,214,838
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G |
Alb |
albumin |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:12239465 |
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NCBI chrNW_004955447:9,327...21,212
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G |
Apcs |
amyloid P component, serum |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:34142820 |
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NCBI chrNW_004955468:11,388,154...11,389,259
Ensembl chrNW_004955468:11,388,192...11,390,314
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G |
C1qa |
complement C1q A chain |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:34142820 |
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NCBI chrNW_004955452:2,753,362...2,756,220
Ensembl chrNW_004955452:2,752,970...2,756,488
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G |
C1qc |
complement C1q C chain |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:34142820 |
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NCBI chrNW_004955452:2,759,079...2,762,522
Ensembl chrNW_004955452:2,758,821...2,762,522
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G |
Cav1 |
caveolin 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25811541 |
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NCBI chrNW_004955432:22,258,262...22,292,403
Ensembl chrNW_004955432:22,258,250...22,292,403
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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_004955421:27,064,497...27,374,850
Ensembl chrNW_004955421:26,992,734...27,374,850
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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_004955516:449,993...455,897
Ensembl chrNW_004955516:449,993...456,492
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Clu |
clusterin |
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ISO |
mRNA:decreased expression:conjunctiva |
RGD |
PMID:12036968 |
RGD:8699507 |
NCBI chrNW_004955403:50,160,598...50,175,876
Ensembl chrNW_004955403:50,160,598...50,175,876
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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_004955444:12,217,337...12,233,570
Ensembl chrNW_004955444:12,217,337...12,234,193
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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_004955451:14,688,181...14,690,126
Ensembl chrNW_004955451:14,688,181...14,690,126
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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_004955420:29,030,716...29,047,447
Ensembl chrNW_004955420:29,030,716...29,047,449
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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_004955491:4,165,400...4,212,483
Ensembl chrNW_004955491:4,165,561...4,212,054
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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_004955404:583,261...617,914
Ensembl chrNW_004955404:583,261...617,914
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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_004955540:1,918,230...1,944,186
Ensembl chrNW_004955540:1,917,655...1,944,214
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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_004955460:6,044,827...6,580,770
Ensembl chrNW_004955460:6,044,725...6,581,269
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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_004955413:26,647,553...26,727,875
Ensembl chrNW_004955413:26,648,339...26,727,933
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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_004955486:2,197,296...2,205,947
Ensembl chrNW_004955486:2,197,467...2,201,256
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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_004955458:14,643,333...14,648,020
Ensembl chrNW_004955458:14,643,313...14,648,045
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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_004955495:4,402,670...4,405,666
Ensembl chrNW_004955495:4,402,746...4,406,943
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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_004955455:8,367,566...8,368,460
Ensembl chrNW_004955455:8,367,566...8,368,460
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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_004955409:183,645...281,252
Ensembl chrNW_004955409:183,545...281,318
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Nfkbiz |
NFKB inhibitor zeta |
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ISO |
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MouseDO |
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NCBI chrNW_004955427:3,350,174...3,358,609
Ensembl chrNW_004955427:3,350,174...3,360,379
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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_004955481:5,197,957...5,232,406
Ensembl chrNW_004955481:5,201,234...5,231,961
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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_004955559:1,723,986...1,739,776
Ensembl chrNW_004955559:1,722,411...1,740,596
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Orm1 |
orosomucoid 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:34142820 |
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NCBI chrNW_004955419:13,262,119...13,264,986
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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_004955489:520,875...557,609
Ensembl chrNW_004955489:520,875...557,615
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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_004955450:3,654,854...3,692,057
Ensembl chrNW_004955450:3,656,498...3,692,406
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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_004955407:3,514,900...3,566,165
Ensembl chrNW_004955407:3,535,388...3,565,058
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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_004955478:7,996,902...8,002,183
Ensembl chrNW_004955478:7,996,902...8,002,183
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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_004955423:21,096,926...21,164,435
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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_004955445:8,624,228...8,663,385
Ensembl chrNW_004955445:8,623,430...8,677,658
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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_004955431:1,960,765...2,124,576
Ensembl chrNW_004955431:1,960,661...2,124,576
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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_004955413:26,579,759...26,592,980
Ensembl chrNW_004955413:26,579,759...26,592,980
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Tnf |
tumor necrosis factor |
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ISO |
protein:increased expression:blister: |
RGD |
PMID:9852250 |
RGD:7401184 |
NCBI chrNW_004955437:117,267...119,899
Ensembl chrNW_004955437:117,206...120,700
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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_004955472:1,111,649...1,124,076
Ensembl chrNW_004955472:1,107,164...1,124,076
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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_004955413:3,672,470...3,825,588
Ensembl chrNW_004955413:3,672,470...3,819,571
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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_004955532:650,913...681,186
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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_004955415:16,447,921...16,483,221
Ensembl chrNW_004955415:16,446,934...16,483,369
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