|
G |
Fermt1 |
FERM domain containing kindlin 1 |
|
ISO |
Kindler syndrome, OMIM:173650 |
RGD |
PMID:12668616 |
RGD:1600405 |
NCBI chr 3:120,171,301...120,213,555
|
|
|
G |
Hr |
HR, lysine demethylase and nuclear receptor corepressor |
|
ISO ISS |
OMIM:209500 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Atrichia with papular lesions | ClinVar Annotator: match by term: Papular Atrichia |
OMIM MouseDO CTD ClinVar |
PMID:8790387 PMID:9445480 PMID:9736769 PMID:9758627 PMID:9856480 PMID:9880231 PMID:9892925 PMID:10205263 PMID:10469319 PMID:11410842 PMID:11966690 PMID:12271294 PMID:17609203 PMID:17869066 PMID:18164595 PMID:20087431 PMID:20512917 PMID:21747609 PMID:21919222 PMID:22584530 PMID:23548463 PMID:24033266 PMID:25741868 PMID:28492532 More...
|
|
NCBI chr15:45,626,835...45,646,313
|
|
G |
Hrurf |
HR upstream open reading frame |
|
ISO |
ClinVar Annotator: match by term: Atrichia with papular lesions |
ClinVar |
PMID:25741868 |
|
|
|
G |
Odc1 |
ornithine decarboxylase 1 |
|
ISS |
OMIM:209500 |
MouseDO |
|
|
NCBI chr 6:46,058,439...46,065,148
|
|
|
G |
Col7a1 |
collagen type VII alpha 1 chain |
|
ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa dystrophica, autosomal dominant CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:1680286 PMID:2425097 PMID:5910871 PMID:7577595 PMID:7695699 PMID:7738360 PMID:7833933 PMID:7861014 PMID:8088783 PMID:8170945 PMID:8218237 PMID:8288900 PMID:8345225 PMID:8618004 PMID:8618021 PMID:8644729 PMID:8644730 PMID:8752681 PMID:8755915 PMID:9215684 PMID:9242516 PMID:9326325 PMID:9347800 PMID:9536098 PMID:9666834 PMID:9668111 PMID:9740253 PMID:9804332 PMID:9856843 PMID:9856844 PMID:9881948 PMID:9892921 PMID:10084325 PMID:10232408 PMID:10233777 PMID:10383749 PMID:10408773 PMID:10469344 PMID:10504458 PMID:10836608 PMID:11710955 PMID:11781296 PMID:11874498 PMID:11952672 PMID:12207583 PMID:12485454 PMID:12735646 PMID:12787275 PMID:12813757 PMID:14616374 PMID:15816848 PMID:15888141 PMID:16189623 PMID:16199547 PMID:16271705 PMID:16484981 PMID:16557343 PMID:16965329 PMID:16971468 PMID:16971478 PMID:17336503 PMID:17425959 PMID:17576681 PMID:17916216 PMID:18429782 PMID:18440202 PMID:18951764 PMID:19197535 PMID:19269793 PMID:19344236 PMID:19665875 PMID:19681861 PMID:20357813 PMID:20598510 PMID:20920254 PMID:21269315 PMID:21448560 PMID:21471992 PMID:22058051 PMID:22266148 PMID:23237810 PMID:23397949 PMID:23786535 PMID:23947675 PMID:24032424 PMID:24033266 PMID:24210835 PMID:24317394 PMID:24599399 PMID:24794830 PMID:24947307 PMID:25201089 PMID:25222259 PMID:25525159 PMID:25741868 PMID:26039182 PMID:26076072 PMID:26102279 PMID:26148662 PMID:26446410 PMID:26467025 PMID:26763448 PMID:26864810 PMID:27153395 PMID:27899325 PMID:28492532 PMID:28830826 PMID:29473190 PMID:29500833 PMID:29963685 PMID:30280950 PMID:31001817 PMID:31670143 PMID:31709745 PMID:31930626 PMID:32383240 PMID:32506467 PMID:32860008 PMID:33587123 PMID:34435747 PMID:35979658 PMID:36287101 More...
|
|
NCBI chr 8:109,604,877...109,637,249
|
|
G |
Itgb4 |
integrin subunit beta 4 |
|
ISO |
ClinVar Annotator: match by term: Cockayne-Touraine type epidermolysis bullosa |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr10:101,705,592...101,741,933
|
|
G |
Krt14 |
keratin 14 |
|
ISO |
ClinVar Annotator: match by term: Cockayne-Touraine type epidermolysis bullosa |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr10:85,137,786...85,142,054
|
|
G |
Krt5 |
keratin 5 |
|
ISO |
ClinVar Annotator: match by term: Cockayne-Touraine type epidermolysis bullosa |
ClinVar |
PMID:7520042 PMID:7537780 PMID:7688477 PMID:8807337 PMID:9036937 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 chr 7:132,846,132...132,851,861
|
|
|
G |
Adam17 |
ADAM metallopeptidase domain 17 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19167455 |
|
NCBI chr 6:40,872,936...40,920,700
|
|
G |
Anxa1 |
annexin A1 |
|
ISO |
associated with Hypersensitivity, Delayed;protein:increased expression:mononuclear cell |
RGD |
PMID:10331485 |
RGD:7421575 |
NCBI chr 1:227,287,713...227,306,739
|
|
|
G |
Dsg3 |
desmoglein 3 |
|
ISO |
ClinVar Annotator: match by term: Blistering, acantholytic, of oral and laryngeal mucosa |
OMIM ClinVar |
PMID:25741868 PMID:30528827 |
|
NCBI chr18:11,799,355...11,830,988
|
|
|
G |
Eln |
elastin |
|
ISO |
|
RGD |
PMID:8256113 |
RGD:9585750 |
NCBI chr12:27,604,983...27,648,413
|
|
G |
Lta |
lymphotoxin alpha |
|
ISO |
DNA:polymorphism |
RGD |
PMID:7914110 |
RGD:8548777 |
NCBI chr20:3,622,291...3,625,852
|
|
G |
Tnf |
tumor necrosis factor |
|
ISO |
DNA:polymorphism:promoter |
RGD |
PMID:7914110 |
RGD:8548777 |
NCBI chr20:3,626,685...3,629,303
|
|
G |
Vegfa |
vascular endothelial growth factor A |
|
ISO |
mRNA:increased expression: : |
RGD |
PMID:7738351 |
RGD:7421578 |
NCBI chr 9:22,452,854...22,468,194
|
|
|
G |
Ccl26 |
C-C motif chemokine ligand 26 |
|
ISO |
protein:increased expression:skin, sebocyte (human) |
RGD |
PMID:22206772 |
RGD:11081159 |
NCBI chr12:26,745,972...26,750,924
|
|
|
G |
Col7a1 |
collagen type VII alpha 1 chain |
|
ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa |
ClinVar |
PMID:10504458 PMID:16971478 PMID:25741868 PMID:28492532 |
|
NCBI chr 8:109,604,877...109,637,249
|
|
G |
Exph5 |
exophilin 5 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
|
|
NCBI chr 8:53,698,825...53,775,371
|
|
G |
Itga6 |
integrin subunit alpha 6 |
|
ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa |
ClinVar |
PMID:14675179 PMID:25741868 |
|
NCBI chr 3:56,604,512...56,689,428
|
|
G |
Itgb4 |
integrin subunit beta 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18348258 |
|
NCBI chr10:101,705,592...101,741,933
|
|
G |
Krt5 |
keratin 5 |
|
ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa |
ClinVar |
PMID:25741868 |
|
NCBI chr 7:132,846,132...132,851,861
|
|
G |
Lamb3 |
laminin subunit beta 3 |
|
ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa |
ClinVar |
PMID:25741868 |
|
NCBI chr13:104,833,810...104,875,405
|
|
|
G |
Col7a1 |
collagen type VII alpha 1 chain |
susceptibility |
ISO |
DNA:insertion-deletion ClinVar Annotator: match by term: Dystrophic epidermolysis bullosa | ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Epidermolysis bullosa dystrophica | ClinVar Annotator: match by term: Hallopeau-Siemens Disease | ClinVar Annotator: match by term: epidermolysis bullosa dystrophica, autosomal recessive CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM RGD |
PMID:2425097 PMID:5910871 PMID:7577595 PMID:7695699 PMID:7833933 PMID:7861014 PMID:8037207 PMID:8088783 PMID:8218237 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:32947957 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 PMID:8275094 More...
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RGD:1600946 |
NCBI chr 8:109,604,877...109,637,249
|
|
G |
Igfbp3 |
insulin-like growth factor binding protein 3 |
|
ISO |
mRNA,protein:decreased expression:skin: |
RGD |
PMID:15140235 |
RGD:12743601 |
NCBI chr14:86,270,208...86,277,944
|
|
G |
Mir711 |
microRNA 711 |
|
ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa dystrophica |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 8:109,621,975...109,622,042
|
|
G |
Mmp1 |
matrix metallopeptidase 1 |
severity |
ISO |
DNA:insertion:promoter:g.-1607_-1606insG (human) ClinVar Annotator: match by term: Hallopeau-Siemens Disease CTD Direct Evidence: marker/mechanism |
ClinVar CTD RGD |
PMID:25741868 PMID:28492532 PMID:18030675 |
RGD:8549728 |
NCBI chr 8:12,943,453...12,963,966
|
|
|
G |
Col7a1 |
collagen type VII alpha 1 chain |
|
ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa dystrophica, autosomal recessive, localisata variant |
ClinVar |
PMID:7695699 PMID:8218237 PMID:8755915 PMID:9536098 PMID:9804332 PMID:10408773 PMID:10504458 PMID:11781296 PMID:12485454 PMID:12787275 PMID:15888141 PMID:16271705 PMID:16484981 PMID:16965329 PMID:16971478 PMID:17576681 PMID:18565177 PMID:19344236 PMID:19681861 PMID:20598510 PMID:22058051 PMID:22266148 PMID:24033266 PMID:25741868 PMID:28492532 PMID:31001817 PMID:31930626 PMID:35979658 More...
|
|
NCBI chr 8:109,604,877...109,637,249
|
|
|
G |
Col7a1 |
collagen type VII alpha 1 chain |
|
ISO |
ClinVar Annotator: match by term: DYSTROPHIC EPIDERMOLYSIS BULLOSA PRURIGINOSA | ClinVar Annotator: match by term: Epidermolysis bullosa pruriginosa | ClinVar Annotator: match by term: Epidermolysis bullosa pruriginosa, autosomal dominant | ClinVar Annotator: match by term: Epidermolysis bullosa pruriginosa, autosomal recessive CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:7695699 PMID:7833933 PMID:8088783 PMID:8218237 PMID:8644730 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 chr 8:109,604,877...109,637,249
|
|
|
G |
Itgb4 |
integrin subunit beta 4 |
|
ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Cockayne-Touraine type |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr10:101,705,592...101,741,933
|
|
G |
Krt14 |
keratin 14 |
susceptibility |
ISO ISS |
DNA:point mutations ClinVar Annotator: match by term: Epidermolysis bullosa simplex | ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Cockayne-Touraine type | ClinVar Annotator: match by term: Epidermolysis bullosa simplex, autosomal recessive OMIM:601001 | OMIM:615425 CTD Direct Evidence: marker/mechanism |
ClinVar MouseDO CTD RGD |
PMID:1717157 PMID:7682883 PMID:8601736 PMID:10583131 PMID:10733662 PMID:10971341 PMID:11331879 PMID:12925204 PMID:16098032 PMID:16614722 PMID:16786515 PMID:16960809 PMID:18717745 PMID:20151404 PMID:20199538 PMID:20301543 PMID:21375516 PMID:21623745 PMID:25326635 PMID:25741868 PMID:26432462 PMID:26743602 PMID:27283507 PMID:28492532 PMID:28830826 PMID:29130490 PMID:29242947 PMID:31957133 PMID:1717157 More...
|
RGD:1600173 |
NCBI chr10:85,137,786...85,142,054
|
|
G |
Krt5 |
keratin 5 |
susceptibility |
ISO |
DNA:mutation ClinVar Annotator: match by term: Epidermolysis bullosa simplex | ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Cockayne-Touraine type CTD Direct Evidence: marker/mechanism |
ClinVar CTD RGD |
PMID:421361 PMID:1049409 PMID:1718160 PMID:2476664 PMID:6457621 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 PMID:1372711 More...
|
RGD:1600195 |
NCBI chr 7:132,846,132...132,851,861
|
|
G |
Mmp9 |
matrix metallopeptidase 9 |
|
ISO |
|
RGD |
PMID:23894602 |
RGD:13204851 |
NCBI chr 3:174,103,474...174,111,434
|
|
G |
Plec |
plectin |
|
ISO |
DNA:deletions: ; 2719de19, 5866delC; associated with muscular dystrophies ClinVar Annotator: match by term: Epidermolysis bullosa simplex |
ClinVar RGD |
PMID:11851880 PMID:23289980 PMID:25741868 PMID:28492532 PMID:8894687 |
RGD:1599911 |
NCBI chr 7:109,768,447...109,829,798
|
|
|
G |
Krt5 |
keratin 5 |
|
ISO |
ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX 2E, WITH MIGRATORY CIRCINATE ERYTHEMA | ClinVar Annotator: match by term: Epidermolysis bullosa simplex with migratory circinate erythema CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:7520042 PMID:8807337 PMID:9036937 PMID:12925204 PMID:15324323 PMID:15647384 PMID:15982306 PMID:20055872 PMID:20301543 PMID:23889190 PMID:24104543 PMID:25741868 PMID:27730678 PMID:28492532 PMID:29180315 PMID:31965605 More...
|
|
NCBI chr 7:132,846,132...132,851,861
|
|
|
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...
|
|
NCBI chr 9:36,135,657...36,529,617
|
|
|
G |
Exph5 |
exophilin 5 |
|
ISO |
ClinVar Annotator: match by term: EXPH5-related condition | ClinVar Annotator: match by term: Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive |
OMIM ClinVar |
PMID:23176819 PMID:24005056 PMID:24443915 PMID:25741868 PMID:26211931 PMID:27384765 PMID:27730671 PMID:28492532 PMID:28830826 PMID:30016581 PMID:32176379 More...
|
|
NCBI chr 8:53,698,825...53,775,371
|
|
|
G |
Plec |
plectin |
|
ISO |
ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX 5C, WITH PYLORIC ATRESIA | ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5C, with pyloric atresia | ClinVar Annotator: match by term: Epidermolysis bullosa simplex with pyloric atresia CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9536098 PMID:11851880 PMID:14675180 PMID:15206692 PMID:15654962 PMID:15681471 PMID:15810881 PMID:17576681 PMID:20301336 PMID:21263134 PMID:22144912 PMID:22854623 PMID:23757202 PMID:23774525 PMID:24033266 PMID:25712130 PMID:25741868 PMID:26467025 PMID:26498160 PMID:28492532 PMID:29050564 PMID:29453417 PMID:30691450 PMID:30919572 PMID:31862442 PMID:32017015 PMID:32576226 More...
|
|
NCBI chr 7:109,768,447...109,829,798
|
|
|
G |
Arhgap10 |
Rho GTPase activating protein 10 |
|
ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy |
ClinVar |
PMID:25741868 |
|
NCBI chr19:47,352,783...47,614,532
|
|
G |
Bclaf1 |
BCL2-associated transcription factor 1 |
|
ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy |
ClinVar |
|
|
NCBI chr 1:16,904,572...16,937,106
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G |
Dcun1d2 |
defective in cullin neddylation 1 domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy |
ClinVar |
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|
NCBI chr16:76,254,433...76,281,139
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G |
Frem2 |
FRAS1 related extracellular matrix 2 |
|
ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy |
ClinVar |
PMID:28492532 |
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NCBI chr 2:137,602,784...137,740,785
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|
G |
Gpr33-ps1 |
G protein-coupled receptor 33, pseudogene 1 |
|
ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy |
ClinVar |
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|
NCBI chr 6:69,474,435...69,475,440
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G |
Hrnr |
hornerin |
|
ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy |
ClinVar |
PMID:25741868 |
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|
|
G |
Ids |
iduronate 2-sulfatase |
|
ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy |
ClinVar |
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|
NCBI chr X:149,025,976...149,046,641
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G |
Plec |
plectin |
|
ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy |
OMIM ClinVar |
PMID:9536098 PMID:11851880 PMID:15206692 PMID:15659326 PMID:15810881 PMID:17576681 PMID:20301336 PMID:20447487 PMID:21109228 PMID:21263134 PMID:22144912 PMID:22854623 PMID:23289980 PMID:23757202 PMID:23774525 PMID:24033266 PMID:25712130 PMID:25741868 PMID:26467025 PMID:26498160 PMID:28492532 PMID:28824526 PMID:28830826 PMID:29050564 PMID:29453417 PMID:30691450 PMID:30919572 PMID:31862442 PMID:32017015 PMID:32576226 PMID:32725257 More...
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NCBI chr 7:109,768,447...109,829,798
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G |
Rp1l1 |
RP1 like 1 |
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ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy |
ClinVar |
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NCBI chr15:38,259,907...38,271,269
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G |
Tmem249 |
transmembrane protein 249 |
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ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy |
ClinVar |
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NCBI chr 7:108,256,535...108,259,429
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G |
Cd151 |
CD151 molecule (Raph blood group) |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: CD151-related condition | ClinVar Annotator: match by term: Epidermolysis bullosa simplex 7, with nephropathy and deafness |
OMIM CTD ClinVar |
PMID:15265795 PMID:25741868 PMID:25741871 PMID:28492532 |
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NCBI chr 1:205,994,300...205,998,307
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G |
Krt14 |
keratin 14 |
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ISS ISO |
OMIM:131760 ClinVar Annotator: match by term: Epidermolysis bullosa simplex Dowling-Meara type |
MouseDO ClinVar |
PMID:1717157 PMID:9804355 PMID:10583131 PMID:10730767 PMID:10733662 PMID:11331879 PMID:11710919 PMID:16098032 PMID:16439965 PMID:16960809 PMID:18717745 PMID:20151404 PMID:20301543 PMID:21623745 PMID:25326635 PMID:25741868 PMID:26432462 PMID:26743602 PMID:28492532 PMID:31957133 More...
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NCBI chr10:85,137,786...85,142,054
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G |
Krt5 |
keratin 5 |
|
ISS ISO |
OMIM:131760 ClinVar Annotator: match by term: Epidermolysis bullosa herpetiformis, Dowling-Meara | ClinVar Annotator: match by term: Epidermolysis bullosa simplex Dowling-Meara type |
MouseDO ClinVar |
PMID:7520042 PMID:8807337 PMID:9036937 PMID:16098032 PMID:16601668 PMID:16882168 PMID:20030639 PMID:20301543 PMID:25741868 PMID:26743602 PMID:28492532 PMID:28561874 PMID:30515866 PMID:31579952 More...
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NCBI chr 7:132,846,132...132,851,861
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G |
Klhl24 |
kelch-like family member 24 |
|
ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Koebner type | ClinVar Annotator: match by term: Generalized EBS |
ClinVar |
PMID:25741868 PMID:27798626 PMID:27889062 PMID:28492532 PMID:29779254 PMID:30120936 PMID:30226531 PMID:30715372 PMID:34292882 PMID:34740256 PMID:35975634 More...
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NCBI chr11:80,843,621...80,877,649
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G |
Krt14 |
keratin 14 |
|
ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Koebner type | ClinVar Annotator: match by term: Generalized EBS |
ClinVar |
PMID:1703046 PMID:1717157 PMID:1720261 PMID:2365356 PMID:7682883 PMID:10583131 PMID:10733662 PMID:11331879 PMID:11710919 PMID:11990248 PMID:16098032 PMID:16960809 PMID:18717745 PMID:20151404 PMID:20301543 PMID:21623745 PMID:25326635 PMID:25741868 PMID:26743602 PMID:28492532 PMID:31957133 More...
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NCBI chr10:85,137,786...85,142,054
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G |
Krt5 |
keratin 5 |
|
ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Koebner type | ClinVar Annotator: match by term: Generalized EBS |
ClinVar |
PMID:7520042 PMID:8807337 PMID:20199538 PMID:25741868 |
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NCBI chr 7:132,846,132...132,851,861
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G |
Itgb4 |
integrin subunit beta 4 |
|
ISO |
ClinVar Annotator: match by term: Localized epidermolysis bullosa simplex |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr10:101,705,592...101,741,933
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G |
Krt14 |
keratin 14 |
|
ISO |
ClinVar Annotator: match by term: Localized epidermolysis bullosa simplex |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr10:85,137,786...85,142,054
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G |
Krt5 |
keratin 5 |
|
ISO |
ClinVar Annotator: match by term: Epidermolysis Bullosa Simplex, Weber-Cockayne Type | ClinVar Annotator: match by term: Localized epidermolysis bullosa simplex |
ClinVar |
PMID:7520042 PMID:7537780 PMID:7688477 PMID:8807337 PMID:9036937 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 chr 7:132,846,132...132,851,861
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G |
Plec |
plectin |
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ISO ISS |
ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX 5A, OGNA TYPE | ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Ogna type OMIM:131950 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:9536098 PMID:11851880 PMID:15206692 PMID:15810881 PMID:17576681 PMID:18414213 PMID:20016501 PMID:20301336 PMID:21263134 PMID:22144912 PMID:22854623 PMID:22864774 PMID:23757202 PMID:23774525 PMID:24033266 PMID:25741868 PMID:26467025 PMID:26498160 PMID:28400893 PMID:28492532 PMID:29050564 PMID:29334134 PMID:29453417 PMID:30691450 PMID:30919572 PMID:31862442 PMID:32017015 PMID:32576226 More...
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NCBI chr 7:109,768,447...109,829,798
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G |
Krt5 |
keratin 5 |
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ISO |
ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX 2F, WITH MOTTLED PIGMENTATION | ClinVar Annotator: match by term: Epidermolysis bullosa simplex with mottled pigmentation | ClinVar Annotator: match by term: Speckled hyperpigmentation, palmo-plantar punctate keratoses and childhood blistering CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
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 chr 7:132,846,132...132,851,861
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G |
Adck5 |
aarF domain containing kinase 5 |
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ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 7:108,301,623...108,319,439
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G |
Bop1 |
BOP1 ribosomal biogenesis factor |
|
ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 7:108,172,062...108,195,875
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G |
Ccdc166 |
coiled-coil domain containing 166 |
|
ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 7:107,693,572...107,695,375
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G |
Cpsf1 |
cleavage and polyadenylation specific factor 1 |
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ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 7:110,200,078...110,210,644
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G |
Cyc1 |
cytochrome c-1 |
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ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 7:109,947,750...109,950,142
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G |
Cyp11b2 |
cytochrome P450, family 11, subfamily b, polypeptide 2 |
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ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:28492532 |
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NCBI chr 7:108,719,349...108,726,024
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G |
Cyp11b3 |
cytochrome P450, family 11, subfamily b, polypeptide 3 |
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ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:28492532 |
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NCBI chr 7:106,808,559...106,814,048
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G |
Dgat1 |
diacylglycerol O-acyltransferase 1 |
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ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 7:110,104,514...110,119,091
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G |
Eef1d |
eukaryotic translation elongation factor 1 delta |
|
ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 7:109,462,645...109,478,021
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G |
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 chr 7:107,816,919...107,842,946
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G |
Exosc4 |
exosome component 4 |
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ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 7:109,928,491...109,931,233
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G |
Fam83h |
family with sequence similarity 83, member H |
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ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 7:107,716,431...107,724,619
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G |
Fbxl6 |
F-box and leucine-rich repeat protein 6 |
|
ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 7:108,259,097...108,262,528
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G |
Foxh1 |
forkhead box H1 |
|
ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
|
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NCBI chr 7:108,387,969...108,391,566
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G |
Gfus |
GDP-L-fucose synthase |
|
ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 7:107,612,087...107,617,005
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G |
Gli4 |
GLI family zinc finger 4 |
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ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 7:107,325,584...107,330,911
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G |
Gml |
glycosylphosphatidylinositol anchored molecule like |
|
ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:28492532 |
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NCBI chr 7:106,683,749...106,712,802
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G |
Gpaa1 |
glycosylphosphatidylinositol anchor attachment 1 |
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ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
|
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NCBI chr 7:109,932,556...109,936,139
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G |
Gpihbp1 |
glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
|
|
NCBI chr 7:107,285,584...107,288,702
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G |
Gpt |
glutamic--pyruvic transaminase |
|
ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:110,295,599...110,300,134
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G |
Grina |
glutamate ionotropic receptor NMDA type subunit associated protein 1 |
|
ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 7:107,962,194...107,965,372
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G |
Gsdmd |
gasdermin D |
|
ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
|
|
NCBI chr 7:109,423,209...109,427,771
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G |
Hgh1 |
HGH1 homolog |
|
ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
|
|
NCBI chr 7:108,091,918...108,094,740
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G |
Hsf1 |
heat shock transcription factor 1 |
|
ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
|
|
NCBI chr 7:110,076,710...110,103,665
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G |
Kifc2 |
kinesin family member C2 |
|
ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
|
|
NCBI chr 7:108,380,634...108,388,364
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G |
Ly6d |
lymphocyte antigen 6 family member D |
|
ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:108,532,207...108,533,943
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G |
Ly6e |
lymphocyte antigen 6 family member E |
|
ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:106,935,530...106,939,689
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G |
Ly6h |
lymphocyte antigen 6 family member H |
|
ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:107,258,779...107,261,270
|
|
G |
Lynx1 |
Ly6/neurotoxin 1 |
|
ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:106,632,800...106,638,003
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G |
Lypd2 |
Ly6/Plaur domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:106,617,561...106,619,598
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G |
Maf1 |
MAF1 homolog, negative regulator of RNA polymerase III |
|
ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
|
|
NCBI chr 7:108,075,173...108,078,252
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G |
Mafa |
MAF bZIP transcription factor A |
|
ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
|
|
NCBI chr 7:109,313,021...109,315,813
|
|
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...
|
|
NCBI chr 7:109,575,619...109,595,339
|
|
G |
Mfsd3 |
major facilitator superfamily domain containing 3 |
|
ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:108,419,644...108,423,469
|
|
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...
|
|
NCBI chr 7:108,098,708...108,172,146
|
|
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...
|
|
NCBI chr 7:107,566,212...107,576,469
|
|
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...
|
|
NCBI chr 7:107,576,645...107,580,102
|
|
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...
|
|
NCBI chr 7:109,679,330...109,685,656
|
|
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 chr 7:108,011,472...108,051,751
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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 chr 7:107,949,031...107,958,377
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|
G |
Plec |
plectin |
|
ISO ISS |
ClinVar Annotator: match by term: Epidermolysa bullosa simplex and limb girdle muscular dystrophy | ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy | ClinVar Annotator: match by term: Epidermolysis bullosa simplex with muscular dystrophy OMIM:226670 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:8696340 PMID:8830774 PMID:8894687 PMID:9536098 PMID:9886273 PMID:10446808 PMID:10652001 PMID:10652002 PMID:11851880 PMID:12071635 PMID:15206692 PMID:15654962 PMID:15659326 PMID:15810881 PMID:16199547 PMID:17576681 PMID:18414213 PMID:19945614 PMID:20016501 PMID:20052759 PMID:20301336 PMID:20447487 PMID:20665883 PMID:21109228 PMID:21263134 PMID:22144912 PMID:22854623 PMID:22864774 PMID:23289980 PMID:23757202 PMID:23774525 PMID:24033266 PMID:24253200 PMID:25454730 PMID:25640679 PMID:25741868 PMID:25987458 PMID:26467025 PMID:26498160 PMID:27234031 PMID:27392081 PMID:27813154 PMID:28400893 PMID:28447722 PMID:28492532 PMID:28824526 PMID:28830826 PMID:29050564 PMID:29334134 PMID:29352809 PMID:29453417 PMID:29797489 PMID:29970176 PMID:30161220 PMID:30293987 PMID:30691450 PMID:30919572 PMID:31001817 PMID:31066050 PMID:31230720 PMID:31269534 PMID:31319225 PMID:31509265 PMID:31513275 PMID:31517061 PMID:31641117 PMID:31862442 PMID:32017015 PMID:32576226 PMID:32707200 PMID:32725257 PMID:33057194 PMID:34046686 PMID:34572129 PMID:35579050 PMID:35670010 PMID:35815343 PMID:35982159 PMID:38818036 More...
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NCBI chr 7:109,768,447...109,829,798
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|
G |
Ppp1r16a |
protein phosphatase 1, regulatory subunit 16A |
|
ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:108,391,664...108,414,812
|
|
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 chr 7:109,663,490...109,674,443
|
|
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...
|
|
NCBI chr 7:109,484,263...109,489,554
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|
G |
Recql4 |
RecQ like helicase 4 |
|
ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:110,304,092...110,311,426
|
|
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 chr 7:107,391,948...107,402,713
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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 chr 7:107,759,343...107,782,364
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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 chr 7:108,240,986...108,244,636
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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 chr 7:108,176,608...108,178,626
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G |
Sharpin |
SHANK-associated RH domain interactor |
|
ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 7:109,951,336...109,955,552
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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 chr 7:110,214,017...110,218,202
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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 chr 7:108,246,003...108,267,642
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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 chr 7:106,611,949...106,613,365
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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 chr 7:107,980,857...108,007,716
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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 chr 7:107,596,724...107,599,243
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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 chr 7:108,256,535...108,259,429
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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 chr 7:108,345,704...108,360,792
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|
G |
Top1mt |
DNA topoisomerase I mitochondrial |
|
ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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|
NCBI chr 7:107,338,092...107,368,125
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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 chr 7:108,341,989...108,345,837
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|
G |
Zc3h3 |
zinc finger CCCH type containing 3 |
|
ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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|
NCBI chr 7:109,321,423...109,406,241
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|
G |
Zfp41 |
zinc finger protein 41 |
|
ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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|
NCBI chr 7:107,307,303...107,320,164
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|
G |
Zfp623 |
zinc finger protein 623 |
|
ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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|
NCBI chr 7:107,627,334...107,636,254
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G |
Zfp707 |
zinc finger protein 707 |
|
ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
|
|
NCBI chr 7:107,679,597...107,686,556
|
|
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...
|
|
NCBI chr 7:108,363,989...108,377,428
|
|
|
G |
Col7a1 |
collagen type VII alpha 1 chain |
|
ISO |
ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA DYSTROPHICA, BART TYPE CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:2425097 PMID:5910871 PMID:7695699 PMID:7833933 PMID:8088783 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 chr 8:109,604,877...109,637,249
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|
|
G |
Dsp |
desmoplakin |
|
ISO |
ClinVar Annotator: match by term: Lethal acantholytic epidermolysis bullosa CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:2450378 PMID:3198322 PMID:9536098 PMID:10395892 PMID:12101406 PMID:12802069 PMID:15210133 PMID:15941723 PMID:16175511 PMID:16199547 PMID:16774985 PMID:16917092 PMID:17576681 PMID:18382419 PMID:18632414 PMID:19597050 PMID:19863551 PMID:19924139 PMID:20031617 PMID:20129281 PMID:20152563 PMID:20302578 PMID:20400443 PMID:20435227 PMID:20524011 PMID:20525856 PMID:20613772 PMID:20716751 PMID:20738328 PMID:20829228 PMID:20857253 PMID:20864495 PMID:21062920 PMID:21264154 PMID:21397041 PMID:21606390 PMID:21606396 PMID:21636032 PMID:21723241 PMID:21756917 PMID:21859740 PMID:22214898 PMID:22216297 PMID:22995991 PMID:23137101 PMID:23292937 PMID:23299917 PMID:23381804 PMID:23396983 PMID:23465283 PMID:23514727 PMID:23524727 PMID:23651034 PMID:23671136 PMID:23861362 PMID:23891292 PMID:23911551 PMID:24033266 PMID:24055113 PMID:24070718 PMID:24125834 PMID:24448499 PMID:24503780 PMID:24825141 PMID:24981977 PMID:25163546 PMID:25196244 PMID:25225338 PMID:25227139 PMID:25351510 PMID:25447171 PMID:25516398 PMID:25525159 PMID:25550050 PMID:25569433 PMID:25616645 PMID:25637381 PMID:25661095 PMID:25676813 PMID:25691752 PMID:25693453 PMID:25741868 PMID:25765472 PMID:25819062 PMID:25820315 PMID:25856671 PMID:25979592 PMID:26073755 PMID:26099957 PMID:26138720 PMID:26187847 PMID:26220970 PMID:26230511 PMID:26272908 PMID:26332594 PMID:26383259 PMID:26399581 PMID:26498160 PMID:26569459 PMID:26585738 PMID:26604139 PMID:26606670 PMID:26656175 PMID:26675346 PMID:26743238 PMID:26833927 PMID:26899768 PMID:27000522 PMID:27054166 PMID:27097650 PMID:27135274 PMID:27153395 PMID:27194543 PMID:27329731 PMID:27332903 PMID:27435932 PMID:27532257 PMID:27698334 PMID:27707468 PMID:27884173 PMID:27930701 PMID:28008423 PMID:28045975 PMID:28074886 PMID:28087426 PMID:28254189 PMID:28255936 PMID:28288337 PMID:28301460 PMID:28341588 PMID:28416588 PMID:28471438 PMID:28473349 PMID:28492532 PMID:28527814 PMID:28600387 PMID:28611029 PMID:28759816 PMID:28790152 PMID:28798025 PMID:29062697 PMID:29095814 PMID:29178656 PMID:29192238 PMID:29247119 PMID:29253866 PMID:29511324 PMID:29590070 PMID:29606362 PMID:29607617 PMID:29618732 PMID:29633331 PMID:29750433 PMID:29759408 PMID:29802319 PMID:29885824 PMID:29915098 PMID:30086531 PMID:30165862 PMID:30276209 PMID:30354334 PMID:30382575 PMID:30398466 PMID:30615648 PMID:30685992 PMID:30699244 PMID:30731207 PMID:30775854 PMID:30820396 PMID:30847666 PMID:30919684 PMID:30975432 PMID:31073624 PMID:31110529 PMID:31114860 PMID:31118017 PMID:31333075 PMID:31378211 PMID:31402444 PMID:31514951 PMID:31534214 PMID:31568572 PMID:31638414 PMID:31737537 PMID:31770195 PMID:31785789 PMID:31983221 PMID:32114801 PMID:32277046 PMID:32372669 PMID:32516855 PMID:32600061 PMID:32659924 PMID:32746448 PMID:32826072 PMID:32879264 PMID:32880476 PMID:32931854 PMID:32942234 PMID:32969603 PMID:33029862 PMID:33082984 PMID:33232181 PMID:33313835 PMID:33500567 PMID:33552729 PMID:33652588 PMID:33684294 PMID:33722762 PMID:33762593 PMID:33857019 PMID:33874732 PMID:33996946 PMID:34026522 PMID:34033898 PMID:34290054 PMID:34298581 PMID:34317553 PMID:34352074 PMID:34389451 PMID:34815391 PMID:34935411 PMID:35008956 PMID:35026164 PMID:35087879 PMID:35444050 PMID:35581137 PMID:35819174 PMID:36178741 PMID:36431211 PMID:36672924 PMID:36768812 PMID:36868229 PMID:37589201 PMID:37904629 PMID:37936624 PMID:37937776 More...
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|
NCBI chr17:26,623,602...26,671,692
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G |
Cd40 |
CD40 molecule |
|
ISO |
|
RGD |
PMID:18050371 |
RGD:8547765 |
NCBI chr 3:174,209,113...174,224,592
|
|
G |
Cd40lg |
CD40 ligand |
|
ISO |
|
RGD |
PMID:18050371 |
RGD:8547765 |
NCBI chr X:140,164,341...140,176,057
|
|
G |
Cd8a |
CD8 subunit alpha |
susceptibility |
ISO |
associated with adult T-cell leukemia;mRNA:increased expression:blood (human) |
RGD |
PMID:32433748 |
RGD:124715447 |
NCBI chr 4:104,924,116...104,928,353
|
|
G |
Masp2 |
MBL associated serine protease 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12904520 |
|
NCBI chr 5:164,319,017...164,332,686
|
|
G |
RT1-Bb |
RT1 class II, locus Bb |
|
ISO |
DNA:polymorphisms (human) |
RGD |
PMID:9627123 |
RGD:5147868 |
NCBI chr20:4,598,475...4,604,118
|
|
G |
Vegfa |
vascular endothelial growth factor A |
|
ISO |
mRNA:increased expression: : |
RGD |
PMID:7738351 |
RGD:7421578 |
NCBI chr 9:22,452,854...22,468,194
|
|
|
G |
Klhl24 |
kelch-like family member 24 |
|
ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Koebner type |
ClinVar |
PMID:25741868 PMID:27798626 PMID:27889062 PMID:28492532 PMID:29779254 PMID:30120936 PMID:30226531 PMID:30715372 PMID:34292882 PMID:34740256 PMID:35975634 More...
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|
NCBI chr11:80,843,621...80,877,649
|
|
G |
Krt14 |
keratin 14 |
|
ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Koebner type |
OMIM ClinVar |
PMID:1703046 PMID:1717157 PMID:1720261 PMID:2365356 PMID:7682883 PMID:10583131 PMID:10733662 PMID:11331879 PMID:11710919 PMID:11990248 PMID:16098032 PMID:16960809 PMID:18717745 PMID:20151404 PMID:20301543 PMID:21623745 PMID:25326635 PMID:25741868 PMID:26743602 PMID:28492532 PMID:31957133 More...
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|
NCBI chr10:85,137,786...85,142,054
|
|
G |
Krt5 |
keratin 5 |
|
ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Koebner type |
ClinVar |
PMID:7520042 PMID:8807337 PMID:20199538 PMID:25741868 |
|
NCBI chr 7:132,846,132...132,851,861
|
|
|
G |
Dst |
dystonin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
|
|
NCBI chr 9:36,135,657...36,529,617
|
|
G |
Krt14 |
keratin 14 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive |
OMIM CTD ClinVar |
PMID:7525407 PMID:7525408 PMID:7526933 PMID:8875963 PMID:10971341 PMID:16614722 PMID:25741868 PMID:27283507 PMID:28492532 PMID:28830826 PMID:29130490 More...
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|
NCBI chr10:85,137,786...85,142,054
|
|
G |
Krt5 |
keratin 5 |
|
ISO |
ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX 1D, GENERALIZED, INTERMEDIATE OR SEVERE, AUTOSOMAL RECESSIVE |
ClinVar |
PMID:7520042 PMID:8807337 PMID:25741868 |
|
NCBI chr 7:132,846,132...132,851,861
|
|
|
G |
Krt5 |
keratin 5 |
|
ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 2B, generalized intermediate |
OMIM ClinVar |
PMID:1718160 PMID:7534039 PMID:7686424 PMID:9740251 PMID:10354017 PMID:11407988 PMID:11407989 PMID:16439963 PMID:16882168 PMID:17039244 PMID:17549391 PMID:20301543 PMID:21375516 PMID:23746086 PMID:25017986 PMID:25741868 PMID:28492532 PMID:28561874 PMID:34680898 More...
|
|
NCBI chr 7:132,846,132...132,851,861
|
|
|
G |
Krt5 |
keratin 5 |
|
ISO |
ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX 2D, GENERALIZED SEVERE, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Epidermolysis bullosa simplex 2d, generalized, intermediate or severe, autosomal recessive |
OMIM ClinVar |
PMID:16465624 PMID:20199538 PMID:25741868 PMID:31302245 PMID:31312705 |
|
NCBI chr 7:132,846,132...132,851,861
|
|
|
G |
Klhl24 |
kelch-like family member 24 |
|
ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 6, generalized, with scarring and hair loss | ClinVar Annotator: match by term: Epidermolysis bullosa simplex, generalized, with scarring and hair loss |
OMIM ClinVar |
PMID:25741868 PMID:27798626 PMID:27889062 PMID:28492532 PMID:29779254 PMID:30120936 PMID:30226531 PMID:30715372 PMID:31649980 PMID:34292882 PMID:34740256 PMID:35975634 More...
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NCBI chr11:80,843,621...80,877,649
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G |
Krt14 |
keratin 14 |
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ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 1A, generalized severe |
OMIM ClinVar |
PMID:1703046 PMID:1717157 PMID:1720261 PMID:9804355 PMID:10583131 PMID:10730767 PMID:10733662 PMID:11331879 PMID:11710919 PMID:16098032 PMID:16439965 PMID:16960809 PMID:18717745 PMID:20151404 PMID:20301543 PMID:21623745 PMID:25326635 PMID:25741868 PMID:26432462 PMID:26743602 PMID:27283507 PMID:28492532 PMID:31957133 More...
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NCBI chr10:85,137,786...85,142,054
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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 chr 7:132,846,132...132,851,861
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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 chr 7:132,846,132...132,851,861
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G |
Dsc3 |
desmocollin 3 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: DSC3-related condition | ClinVar Annotator: match by term: Hypotrichosis and recurrent skin vesicles |
OMIM CTD ClinVar |
PMID:19765682 PMID:25741868 PMID:31790667 |
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NCBI chr18:11,379,759...11,413,797
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G |
Col17a1 |
collagen type XVII alpha 1 chain |
susceptibility |
ISO ISS |
ClinVar Annotator: match by term: Junctional epidermolysis bullosa |
MouseDO ClinVar RGD |
PMID:7550320 PMID:9199555 PMID:9740252 PMID:10398261 PMID:10577906 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 PMID:7550320 More...
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RGD:1600884 |
NCBI chr 1:246,530,589...246,577,559
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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 chr10:101,742,067...101,746,244
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G |
Itga6 |
integrin subunit alpha 6 |
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ISO |
epidermolysis bullosa with pyloric atresia, OMIM:226730 ClinVar Annotator: match by term: Junctional epidermolysis bullosa |
ClinVar RGD |
PMID:21357940 PMID:25741868 PMID:9185503 |
RGD:1600016 |
NCBI chr 3:56,604,512...56,689,428
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G |
Itgb4 |
integrin subunit beta 4 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Junctional epidermolysis bullosa |
CTD ClinVar |
PMID:7545057 PMID:9792864 PMID:11886501 |
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NCBI chr10:101,705,592...101,741,933
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G |
Lama3 |
laminin subunit alpha 3 |
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ISO ISS |
ClinVar Annotator: match by term: Junctional epidermolysis bullosa CTD Direct Evidence: marker/mechanism |
ClinVar MouseDO CTD RGD |
PMID:9536098 PMID:10366601 PMID:11810295 PMID:11907499 PMID:12915477 PMID:15538630 PMID:16473856 PMID:17362460 PMID:17576681 PMID:17916201 PMID:22434185 PMID:23869449 PMID:25741868 PMID:27827380 PMID:28087116 PMID:28492532 PMID:8586427 More...
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RGD:1600080 |
NCBI chr18:3,523,168...3,751,722
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G |
Lamb3 |
laminin subunit beta 3 |
susceptibility |
ISO |
DNA:nonsense mutation ClinVar Annotator: match by term: Junctional epidermolysis bullosa CTD Direct Evidence: marker/mechanism |
ClinVar CTD RGD |
PMID:7550237 PMID:7698759 PMID:7706760 PMID:8824879 PMID:8983017 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 PMID:7698759 More...
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RGD:1600209 |
NCBI chr13:104,833,810...104,875,405
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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 CTD Direct Evidence: marker/mechanism |
ClinVar CTD RGD |
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 PMID:8012393 More...
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RGD:1600210 |
NCBI chr13:67,835,199...67,894,694
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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 chr 1:246,530,589...246,577,559
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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 chr18:3,523,168...3,751,722
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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 chr13:104,833,810...104,875,405
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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 chr18:3,523,168...3,751,722
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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 chr13:104,833,810...104,875,405
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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 chr13:67,835,199...67,894,694
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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 chr18:3,523,168...3,751,722
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G |
Lama3 |
laminin subunit alpha 3 |
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ISO |
ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 2B, HERLITZ TYPE | ClinVar Annotator: match by term: Epidermolysis bullosa, junctional 2B, severe |
OMIM ClinVar |
PMID:7633458 PMID:8530087 PMID:8586427 PMID:8618022 PMID:8824879 PMID:8983017 PMID:10366601 PMID:11810295 PMID:12915477 PMID:16473856 PMID:17362460 PMID:22434185 PMID:23869449 PMID:25741868 PMID:27827380 PMID:28087116 PMID:28492532 More...
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NCBI chr18:3,523,168...3,751,722
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G |
Lama3 |
laminin subunit alpha 3 |
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ISO |
ClinVar Annotator: match by term: Laryngo-onycho-cutaneous syndrome CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:7633458 PMID:8530087 PMID:8618022 PMID:8824879 PMID:8983017 PMID:9536098 PMID:10366601 PMID:11810295 PMID:12915477 PMID:16199547 PMID:16473856 PMID:17362460 PMID:17576681 PMID:22434185 PMID:23869449 PMID:24033266 PMID:25363238 PMID:25741868 PMID:26635394 PMID:27827380 PMID:28087116 PMID:28492532 PMID:35314946 More...
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NCBI chr18:3,523,168...3,751,722
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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 chr13:67,835,199...67,894,694
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G |
Lamc2 |
laminin subunit gamma 2 |
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ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa, junctional 3B, severe |
OMIM ClinVar |
PMID:7849725 PMID:8012114 PMID:8012393 PMID:8012394 PMID:8824879 PMID:8983017 PMID:9085255 PMID:10951251 PMID:11810295 PMID:11907499 PMID:15373767 PMID:16473856 PMID:17916201 PMID:20301304 PMID:25741868 PMID:28492532 More...
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NCBI chr13:67,835,199...67,894,694
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G |
Col17a1 |
collagen type XVII alpha 1 chain |
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ISO |
ClinVar Annotator: match by term: COL17A1-related condition | ClinVar Annotator: match by term: Epidermolysis bullosa, junctional 4, intermediate |
OMIM ClinVar |
PMID:7092249 PMID:7550320 PMID:8618019 PMID:9012408 PMID:9077475 PMID:9199555 PMID:9204958 PMID:9457913 PMID:9457914 PMID:9536098 PMID:9583744 PMID:9740252 PMID:10398261 PMID:10577906 PMID:10636730 PMID:10951237 PMID:11406649 PMID:11851893 PMID:14614394 PMID:16199547 PMID:16354180 PMID:16473856 PMID:17344927 PMID:17576681 PMID:19340010 PMID:20301304 PMID:21357940 PMID:21466533 PMID:23550562 PMID:24005051 PMID:24319098 PMID:24668667 PMID:24814191 PMID:25741868 PMID:25803036 PMID:26604146 PMID:28492532 PMID:33274474 More...
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NCBI chr 1:246,530,589...246,577,559
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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 chr10:101,742,067...101,746,244
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G |
Itgb4 |
integrin subunit beta 4 |
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ISO |
ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5A, NON-HERLITZ TYPE | ClinVar Annotator: match by term: Epidermolysis bullosa, junctional 5A, intermediate |
OMIM ClinVar |
PMID:9536098 PMID:9546354 PMID:9892956 PMID:10792571 PMID:11328943 PMID:12485428 PMID:15009117 PMID:16199547 PMID:16473856 PMID:17576681 PMID:25741868 PMID:28492532 PMID:30011071 More...
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NCBI chr10:101,705,592...101,741,933
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G |
Itga3 |
integrin subunit alpha 3 |
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ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome | ClinVar Annotator: match by term: ITGA3-related condition | ClinVar Annotator: match by term: Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital |
OMIM ClinVar |
PMID:16199547 PMID:22512483 PMID:24088041 PMID:25741868 PMID:25810266 PMID:26633545 PMID:28492532 PMID:29127259 More...
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NCBI chr10:79,990,160...80,022,206
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G |
Itga6 |
integrin subunit alpha 6 |
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ISS |
OMIM:226700 |
MouseDO |
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NCBI chr 3:56,604,512...56,689,428
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G |
Lama3 |
laminin subunit alpha 3 |
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ISO |
ClinVar Annotator: match by term: Herlitz-Pearson type epidermolysis bullosa | ClinVar Annotator: match by term: Herlitz-type junctional epidermolysis bullosa | ClinVar Annotator: match by term: Junctional epidermolysis bullosa gravis of Herlitz |
ClinVar |
PMID:7633458 PMID:8530087 PMID:8618022 PMID:8824879 PMID:8983017 PMID:9536098 PMID:10366601 PMID:11810295 PMID:12915477 PMID:12943669 PMID:15373767 PMID:16199547 PMID:16473856 PMID:16971478 PMID:17362460 PMID:17576681 PMID:22434185 PMID:23869449 PMID:24033266 PMID:25363238 PMID:25525159 PMID:25741868 PMID:26635394 PMID:27375110 PMID:27827380 PMID:28087116 PMID:28492532 PMID:33274474 More...
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NCBI chr18:3,523,168...3,751,722
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G |
Lamb3 |
laminin subunit beta 3 |
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ISS ISO |
OMIM:226700 ClinVar Annotator: match by term: Herlitz-Pearson type epidermolysis bullosa | ClinVar Annotator: match by term: Herlitz-type junctional epidermolysis bullosa | ClinVar Annotator: match by term: Junctional epidermolysis bullosa gravis of Herlitz |
MouseDO ClinVar |
PMID:7550237 PMID:7698759 PMID:7706760 PMID:8362910 PMID:8541876 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 chr13:104,833,810...104,875,405
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G |
Lamc2 |
laminin subunit gamma 2 |
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ISS ISO |
OMIM:226700 ClinVar Annotator: match by term: Herlitz-Pearson type epidermolysis bullosa | ClinVar Annotator: match by term: Herlitz-type junctional epidermolysis bullosa | ClinVar Annotator: match by term: Junctional epidermolysis bullosa gravis of Herlitz |
MouseDO ClinVar |
PMID:7849725 PMID:8012114 PMID:8012393 PMID:8012394 PMID:8824879 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 chr13:67,835,199...67,894,694
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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 chr 5:138,002,522...138,030,742
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G |
Col17a1 |
collagen type XVII alpha 1 chain |
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ISO ISS |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Junctional epidermolysis bullosa, non-Herlitz type OMIM:226650 |
CTD ClinVar MouseDO |
PMID:9077475 PMID:9204958 PMID:9536098 PMID:9583744 PMID:10636730 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:24550734 PMID:24668667 PMID:24814191 PMID:25741868 PMID:25803036 PMID:28492532 PMID:28813618 PMID:33274474 More...
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NCBI chr 1:246,530,589...246,577,559
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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 chr10:101,742,067...101,746,244
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G |
Itgb4 |
integrin subunit beta 4 |
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ISO ISS |
ClinVar Annotator: match by term: Junctional epidermolysis bullosa, non-Herlitz type OMIM:226650 |
ClinVar MouseDO |
PMID:25741868 PMID:28492532 |
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NCBI chr10:101,705,592...101,741,933
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G |
Lama3 |
laminin subunit alpha 3 |
|
ISS ISO |
OMIM:226650 ClinVar Annotator: match by term: Epidermolysis bullosa junctionalis, disentis type | ClinVar Annotator: match by term: Junctional epidermolysis bullosa, non-Herlitz type |
MouseDO ClinVar |
PMID:10366601 PMID:11810295 PMID:12915477 PMID:16473856 PMID:17362460 PMID:22434185 PMID:23869449 PMID:24033266 PMID:25363238 PMID:25741868 PMID:27827380 PMID:28087116 PMID:28492532 More...
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NCBI chr18:3,523,168...3,751,722
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G |
Lamb3 |
laminin subunit beta 3 |
|
ISO ISS |
ClinVar Annotator: match by term: Junctional epidermolysis bullosa, non-Herlitz type ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA JUNCTIONALIS, SEVERE NONLETHAL | ClinVar Annotator: match by term: Epidermolysis bullosa junctionalis, disentis type | ClinVar Annotator: match by term: Junctional epidermolysis bullosa, non-Herlitz type OMIM:226650 CTD Direct Evidence: marker/mechanism |
ClinVar MouseDO CTD |
PMID:7550237 PMID:7698759 PMID:7706760 PMID:8824879 PMID:8983017 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 chr13:104,833,810...104,875,405
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G |
Lamc2 |
laminin subunit gamma 2 |
|
ISO ISS |
CTD Direct Evidence: marker/mechanism OMIM:226650 ClinVar Annotator: match by term: Junctional epidermolysis bullosa, non-Herlitz type |
CTD MouseDO ClinVar |
PMID:11564184 PMID:24550734 PMID:25741868 PMID:27375110 PMID:28492532 |
|
NCBI chr13:67,835,199...67,894,694
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|
|
G |
Galk1 |
galactokinase 1 |
|
ISO |
ClinVar Annotator: match by term: Junctional epidermolysis bullosa with pyloric atresia ClinVar Annotator: match by term: ITGB4-related condition | ClinVar Annotator: match by term: Junctional epidermolysis bullosa with pyloric atresia |
ClinVar |
PMID:9536098 PMID:9792864 PMID:9892956 PMID:10484780 PMID:11328943 PMID:11886501 PMID:12485428 PMID:16199547 PMID:16473856 PMID:17576681 PMID:18955862 PMID:20301304 PMID:22674212 PMID:23496044 PMID:25741868 PMID:28492532 PMID:33274474 More...
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NCBI chr10:101,742,067...101,746,244
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G |
Itga6 |
integrin subunit alpha 6 |
|
ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa, junctional 6, with pyloric atresia | ClinVar Annotator: match by term: ITGA6-related condition | ClinVar Annotator: match by term: ITGB4-related condition | ClinVar Annotator: match by term: Junctional epidermolysis bullosa with pyloric atresia |
OMIM ClinVar |
PMID:9158140 PMID:9185503 PMID:9804362 PMID:14675179 PMID:23496044 PMID:25741868 PMID:27607025 PMID:28492532 More...
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NCBI chr 3:56,604,512...56,689,428
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G |
Itgb4 |
integrin subunit beta 4 |
|
ISO ISS |
ClinVar Annotator: match by term: ITGB4-related condition | ClinVar Annotator: match by term: Junctional epidermolysis bullosa with pyloric atresia OMIM:226730 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:6177243 PMID:7545057 PMID:9422533 PMID:9536098 PMID:9546354 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 chr10:101,705,592...101,741,933
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G |
Myo6 |
myosin VI |
|
ISO |
ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5B, WITH PYLORIC ATRESIA |
ClinVar |
PMID:12687499 PMID:18348273 PMID:23767834 PMID:25080041 PMID:25741868 PMID:25999546 PMID:26969326 PMID:28492532 PMID:30582396 PMID:33279834 PMID:33297549 More...
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NCBI chr 8:81,087,157...81,242,022
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G |
Plec |
plectin |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5B, WITH PYLORIC ATRESIA | ClinVar Annotator: match by term: Junctional epidermolysis bullosa with pyloric atresia |
CTD ClinVar |
PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 |
|
NCBI chr 7:109,768,447...109,829,798
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G |
Fermt1 |
FERM domain containing kindlin 1 |
|
ISO ISS |
ClinVar Annotator: match by term: FERMT1-related condition | ClinVar Annotator: match by term: Kindler syndrome OMIM:173650 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:12668616 PMID:12789646 PMID:14507403 PMID:14962093 PMID:15313809 PMID:16199547 PMID:16675959 PMID:16702500 PMID:17178989 PMID:17460733 PMID:17916195 PMID:18528435 PMID:19292718 PMID:19762715 PMID:20938162 PMID:21336475 PMID:21936020 PMID:22220914 PMID:22466645 PMID:24346923 PMID:24635075 PMID:24635080 PMID:25156791 PMID:25437880 PMID:25599393 PMID:25741868 PMID:26937547 PMID:27293055 PMID:27862150 PMID:28443301 PMID:28492532 PMID:29130490 PMID:29453417 PMID:30838128 PMID:31340837 PMID:31957900 More...
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NCBI chr 3:120,171,301...120,213,555
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|
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G |
Galk1 |
galactokinase 1 |
|
ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 1C, localized |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr10:101,742,067...101,746,244
|
|
G |
Itgb4 |
integrin subunit beta 4 |
|
ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 1C, localized |
ClinVar |
PMID:11328943 PMID:16473856 PMID:25741868 PMID:28492532 |
|
NCBI chr10:101,705,592...101,741,933
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G |
Krt14 |
keratin 14 |
|
ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 1C, localized |
OMIM ClinVar |
PMID:7506606 PMID:7561171 PMID:9284105 PMID:10733662 PMID:11710919 PMID:17039244 PMID:23746086 PMID:25741868 PMID:27283507 PMID:28492532 PMID:32884918 PMID:32885477 More...
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NCBI chr10:85,137,786...85,142,054
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G |
Krt5 |
keratin 5 |
|
ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 1C, localized |
ClinVar |
PMID:7520042 PMID:7537780 PMID:7688477 PMID:8807337 PMID:9036937 PMID:16098032 PMID:16601668 PMID:16882168 PMID:20030639 PMID:20199538 PMID:20301543 PMID:25741868 PMID:26743602 PMID:28492532 PMID:28561874 PMID:30515866 PMID:31579952 More...
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NCBI chr 7:132,846,132...132,851,861
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G |
Krt5 |
keratin 5 |
|
ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 2C, Weber-Cockayne type | ClinVar Annotator: match by term: Epidermolysis bullosa simplex 2C, localized | ClinVar Annotator: match by term: Epidermolysis bullosa simplex 2C, localized, modifier of |
OMIM ClinVar |
PMID:7520042 PMID:7537780 PMID:7688477 PMID:8807337 PMID:11973334 PMID:12648226 PMID:16098032 PMID:18384561 PMID:21144712 PMID:25741868 PMID:28425111 PMID:28492532 PMID:31302245 More...
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NCBI chr 7:132,846,132...132,851,861
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G |
Col7a1 |
collagen type VII alpha 1 chain |
|
ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa, pretibial, autosomal recessive | ClinVar Annotator: match by term: Pretibial dystrophic epidermolysis bullosa | ClinVar Annotator: match by term: Pretibial epidermolysis bullosa CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
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 chr 8:109,604,877...109,637,249
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|
|
G |
Col7a1 |
collagen type VII alpha 1 chain |
|
ISS ISO |
OMIM:226600 ClinVar Annotator: match by term: Epidermolysis bullosa dystrophica inversa, autosomal recessive | ClinVar Annotator: match by term: Recessive dystrophic epidermolysis bullosa |
MouseDO ClinVar |
PMID:1050445 PMID:7577595 PMID:7695699 PMID:7833933 PMID:7883979 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 chr 8:109,604,877...109,637,249
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|
G |
Grip1 |
glutamate receptor interacting protein 1 |
|
ISS |
OMIM:226600 |
MouseDO |
|
|
NCBI chr 7:56,820,501...57,477,877
|
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G |
Mir711 |
microRNA 711 |
|
ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa dystrophica inversa, autosomal recessive |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:109,621,975...109,622,042
|
|
G |
Mmp1 |
matrix metallopeptidase 1 |
|
ISO |
ClinVar Annotator: match by term: Recessive dystrophic epidermolysis bullosa |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 8:12,943,453...12,963,966
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|
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G |
Alb |
albumin |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:12239465 |
|
NCBI chr14:17,891,564...17,907,043
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G |
Apcs |
amyloid P component, serum |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:34142820 |
|
NCBI chr13:85,373,219...85,374,195
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G |
C1qa |
complement C1q A chain |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:34142820 |
|
NCBI chr 5:154,417,086...154,419,933
|
|
G |
C1qc |
complement C1q C chain |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:34142820 |
|
NCBI chr 5:154,410,845...154,414,208
|
|
G |
Cav1 |
caveolin 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25811541 |
|
NCBI chr 4:46,606,538...46,639,616
|
|
G |
Celf2 |
CUGBP, Elav-like family member 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25811541 |
|
NCBI chr17:70,904,462...71,729,072
|
|
G |
Cfhr1 |
complement factor H-related 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:34142820 |
|
NCBI chr13:51,395,583...51,410,571
|
|
G |
Cfp |
complement factor properdin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:34142820 |
|
NCBI chr X:1,162,014...1,167,576
|
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G |
Clu |
clusterin |
|
ISO |
mRNA:decreased expression:conjunctiva |
RGD |
PMID:12036968 |
RGD:8699507 |
NCBI chr15:40,161,068...40,200,315
|
|
G |
Cops5 |
COP9 signalosome subunit 5 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25811541 |
|
NCBI chr 5:13,975,198...13,993,391
|
|
G |
Crp |
C-reactive protein |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:34142820 |
|
NCBI chr13:87,694,062...87,695,978
|
|
G |
Csf3 |
colony stimulating factor 3 |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:11321886 |
|
NCBI chr10:84,157,485...84,159,860
|
|
G |
Ctnnb1 |
catenin beta 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25811541 |
|
NCBI chr 8:129,517,576...129,544,661
|
|
G |
Cul1 |
cullin 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25811541 |
|
NCBI chr 4:77,551,781...77,634,210
|
|
G |
Cul4a |
cullin 4A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25811541 |
|
NCBI chr16:83,086,688...83,124,503
|
|
G |
Derl1 |
derlin 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25811541 |
|
NCBI chr 7:89,404,413...89,427,095
|
|
G |
Elmo1 |
engulfment and cell motility 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25811541 |
|
NCBI chr17:44,286,495...44,822,668
|
|
G |
Ep300 |
E1A binding protein p300 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25811541 |
|
NCBI chr 7:114,987,857...115,058,652
|
|
G |
Fbxo6 |
F-box protein 6 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25811541 |
|
NCBI chr 5:163,859,909...163,865,693
|
|
G |
Gstm1 |
glutathione S-transferase mu 1 |
|
ISO |
|
RGD |
PMID:28689274 |
RGD:14700974 |
NCBI chr 2:198,338,005...198,346,007
|
|
G |
Ifng |
interferon gamma |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25811541 |
|
NCBI chr 7:55,789,180...55,793,216
|
|
G |
Lbp |
lipopolysaccharide binding protein |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:34142820 |
|
NCBI chr 3:146,953,889...146,981,032
|
|
G |
Lrg1 |
leucine-rich alpha-2-glycoprotein 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:34142820 |
|
NCBI chr 9:947,516...949,773
|
|
G |
Mif |
macrophage migration inhibitory factor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9372356 |
|
NCBI chr20:12,790,919...12,791,784
|
|
G |
Mir18a |
microRNA 18a |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:34142820 |
|
NCBI chr15:92,180,765...92,180,860
|
|
G |
Nedd4 |
NEDD4 E3 ubiquitin protein ligase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25811541 |
|
NCBI chr 8:82,264,751...82,349,642
|
|
G |
Nfkbiz |
NFKB inhibitor zeta |
|
ISS |
|
MouseDO |
|
|
NCBI chr11:58,251,720...58,279,767
|
|
G |
Nos2 |
nitric oxide synthase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10620138 |
|
NCBI chr10:64,313,335...64,349,221
|
|
G |
Nucb1 |
nucleobindin 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25811541 |
|
NCBI chr 1:105,104,793...105,135,730
|
|
G |
Orm1 |
orosomucoid 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:34142820 |
|
NCBI chr 5:81,788,509...81,791,661
|
|
G |
Parp1 |
poly (ADP-ribose) polymerase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25811541 |
|
NCBI chr13:94,839,484...94,871,295
|
|
G |
Pml |
PML nuclear body scaffold |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25811541 |
|
NCBI chr 8:58,627,347...58,661,927
|
|
G |
Pros1 |
protein S |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:34142820 |
|
NCBI chr11:13,676,310...13,757,858
|
|
G |
Psmc5 |
proteasome 26S subunit, ATPase 5 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25811541 |
|
NCBI chr10:91,187,763...91,193,697
|
|
G |
Ptger3 |
prostaglandin E receptor 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21966456 |
|
NCBI chr 2:246,606,131...246,750,970
|
|
G |
Ptgis |
prostaglandin I2 synthase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25811541 |
|
NCBI chr 3:155,928,564...155,964,228
|
|
G |
Rb1 |
RB transcriptional corepressor 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25811541 |
|
NCBI chr15:54,780,858...54,911,989
|
|
G |
Rbx1 |
ring-box 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25811541 |
|
NCBI chr 7:114,870,893...114,881,194
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G |
RT1-Bb |
RT1 class II, locus Bb |
susceptibility |
ISO |
DNA:polymorphism:cds:HLA-DQB1*0601 (human) |
RGD |
PMID:8841298 |
RGD:7483570 |
NCBI chr20:4,598,475...4,604,118
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G |
RT1-CE13 |
RT1 class I, locus CE13 |
susceptibility |
ISO |
DNA:polymorphisms:cds:HLA-B*5801 (human, Japanese) DNA:polymorphisms:cds:HLA-B*15:02, HLA-B*40:01, HLA-B*58:02 (human) |
RGD |
PMID:19018717 PMID:23692434 |
RGD:7364874, RGD:7365090 |
NCBI chr20:3,314,491...3,322,815
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G |
RT1-CE16 |
RT1 class I, locus CE16 |
susceptibility |
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hypersensitivity syndrome, carbamazepine-induced, susceptibility to |
CTD OMIM ClinVar |
PMID:16538176 PMID:21428769 PMID:23588310 |
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NCBI chr20:3,261,656...3,265,548
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G |
Tnf |
tumor necrosis factor |
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ISO |
protein:increased expression:blister: |
RGD |
PMID:9852250 |
RGD:7401184 |
NCBI chr20:3,626,685...3,629,303
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G |
Vcp |
valosin-containing protein |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25811541 |
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NCBI chr 5:62,005,984...62,025,387
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G |
Vwf |
von Willebrand factor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:34142820 |
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NCBI chr 4:160,042,900...160,177,757
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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, NEONATAL FORM | ClinVar Annotator: match by term: Epidermolysis bullosa dystrophica, dominant neonatal form | ClinVar Annotator: match by term: Transient bullous dermolysis of the newborn CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:2653224 PMID:7695699 PMID:7833933 PMID:8088783 PMID:8218237 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 chr 8:109,604,877...109,637,249
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