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G |
HR |
HR lysine demethylase and nuclear receptor corepressor |
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IAGP ISS EXP |
ClinVar Annotator: match by term: Atrichia with papular lesions ClinVar Annotator: match by term: Atrichia with papular lesions | ClinVar Annotator: match by term: Papular Atrichia OMIM:209500 CTD Direct Evidence: marker/mechanism |
ClinVar MouseDO CTD OMIM |
PMID:8790387 PMID:9445480 PMID:9736769 PMID:9758627 PMID:9856480 PMID:9880231 PMID:9892925 PMID:10205263 PMID:10469319 PMID:11410842 PMID:11966690 PMID:12271294 PMID:17609203 PMID:17869066 PMID:18164595 PMID:20087431 PMID:20512917 PMID:21747609 PMID:21919222 PMID:22584530 PMID:23548463 PMID:24033266 PMID:25741868 PMID:28492532 More...
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NCBI chr 8:22,114,419...22,131,052
Ensembl chr 8:22,114,419...22,133,384
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G |
HRURF |
HR upstream open reading frame |
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IAGP |
ClinVar Annotator: match by term: Atrichia with papular lesions |
ClinVar |
PMID:25741868 |
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NCBI chr 8:22,130,458...22,131,010
Ensembl chr 8:22,130,458...22,131,010
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G |
ODC1 |
ornithine decarboxylase 1 |
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ISS |
OMIM:209500 |
MouseDO |
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NCBI chr 2:10,439,968...10,448,327
Ensembl chr 2:10,439,968...10,448,327
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G |
COL7A1 |
collagen type VII alpha 1 chain |
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IAGP EXP |
ClinVar Annotator: match by term: Epidermolysis bullosa dystrophica, autosomal dominant CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM |
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:8900535 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:10944088 PMID:11710955 PMID:11781296 PMID:11874498 PMID:11952672 PMID:12207583 PMID:12485454 PMID:12653705 PMID:12735646 PMID:12787275 PMID:12813757 PMID:14616374 PMID:15816848 PMID:15888141 PMID:16189623 PMID:16199547 PMID:16271705 PMID:16484981 PMID:16500083 PMID:16557343 PMID:16965329 PMID:16971468 PMID:16971478 PMID:17336503 PMID:17425959 PMID:17495952 PMID:17576681 PMID:17916216 PMID:18429782 PMID:18440202 PMID:18565177 PMID:18951764 PMID:19197535 PMID:19269793 PMID:19344236 PMID:19439919 PMID:19665875 PMID:19681861 PMID:19694005 PMID:20184583 PMID:20357813 PMID:20598510 PMID:20920254 PMID:21269315 PMID:21448560 PMID:21471992 PMID:22058051 PMID:22209565 PMID:22266148 PMID:23237810 PMID:23397949 PMID:23786535 PMID:23947675 PMID:24032424 PMID:24033266 PMID:24210835 PMID:24213372 PMID:24252097 PMID:24317394 PMID:24599399 PMID:24794830 PMID:24947307 PMID:25155989 PMID:25201089 PMID:25222259 PMID:25525159 PMID:25741868 PMID:26039182 PMID:26076072 PMID:26102279 PMID:26143532 PMID:26148662 PMID:26446410 PMID:26467025 PMID:26763448 PMID:26864810 PMID:27153395 PMID:27544590 PMID:27899325 PMID:28492532 PMID:28830826 PMID:29364557 PMID:29427316 PMID:29473190 PMID:29500833 PMID:29963685 PMID:30280950 PMID:31001817 PMID:31670143 PMID:31709745 PMID:31786163 PMID:31930626 PMID:32383240 PMID:32484238 PMID:32506467 PMID:32860008 PMID:33274474 PMID:33587123 PMID:33969388 PMID:34230977 PMID:34435747 PMID:35979658 PMID:36287101 More...
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NCBI chr 3:48,564,073...48,595,329
Ensembl chr 3:48,564,073...48,595,329
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G |
ITGB4 |
integrin subunit beta 4 |
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IAGP |
ClinVar Annotator: match by term: Cockayne-Touraine type epidermolysis bullosa |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr17:75,721,459...75,757,818
Ensembl chr17:75,721,328...75,757,818
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G |
KRT14 |
keratin 14 |
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IAGP |
ClinVar Annotator: match by term: Cockayne-Touraine type epidermolysis bullosa |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr17:41,582,279...41,586,895
Ensembl chr17:41,582,279...41,586,895
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G |
KRT5 |
keratin 5 |
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IAGP |
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 chr12:52,514,575...52,520,394
Ensembl chr12:52,514,575...52,520,530
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G |
LOC126861525 |
BRD4-independent group 4 enhancer GRCh37_chr12:52909857-52911056 |
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IAGP |
ClinVar Annotator: match by term: Cockayne-Touraine type epidermolysis bullosa |
ClinVar |
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 chr12:52,516,073...52,517,272
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G |
ADAM17 |
ADAM metallopeptidase domain 17 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19167455 |
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NCBI chr 2:9,488,486...9,555,830
Ensembl chr 2:9,488,486...9,556,732
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G |
ANXA1 |
annexin A1 |
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IEP |
associated with Hypersensitivity, Delayed;protein:increased expression:mononuclear cell |
RGD |
PMID:10331485 |
RGD:7421575 |
NCBI chr 9:73,151,865...73,170,393
Ensembl chr 9:73,151,865...73,170,629
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G |
DSG3 |
desmoglein 3 |
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IAGP |
ClinVar Annotator: match by term: Blistering, acantholytic, of oral and laryngeal mucosa |
OMIM ClinVar |
PMID:25741868 PMID:30528827 |
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NCBI chr18:31,447,741...31,478,702
Ensembl chr18:31,447,741...31,478,702
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G |
CCL26 |
C-C motif chemokine ligand 26 |
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IEP |
protein:increased expression:blister, serum (human) |
RGD |
PMID:21881593 |
RGD:11087555 |
NCBI chr 7:75,769,524...75,791,597
Ensembl chr 7:75,769,533...75,789,896
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G |
CFB |
complement factor B |
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ISO |
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RGD |
PMID:17024247 |
RGD:7421522 |
NCBI chr 6:31,946,095...31,952,084
Ensembl chr 6:31,945,650...31,952,086
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G |
CXCL8 |
C-X-C motif chemokine ligand 8 |
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ISO EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11359455 |
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NCBI chr 4:73,740,569...73,743,716
Ensembl chr 4:73,740,519...73,743,716
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G |
F2 |
coagulation factor II, thrombin |
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IEP |
protein:increased expression:plasma |
RGD |
PMID:21488867 |
RGD:5147756 |
NCBI chr11:46,719,213...46,739,506
Ensembl chr11:46,719,196...46,739,506
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G |
ICAM1 |
intercellular adhesion molecule 1 |
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IEP |
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RGD |
PMID:1377725 |
RGD:8547591 |
NCBI chr19:10,271,120...10,286,615
Ensembl chr19:10,271,093...10,286,615
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G |
IL2 |
interleukin 2 |
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IDA |
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RGD |
PMID:1973607 |
RGD:8663461 |
NCBI chr 4:122,451,470...122,456,725
Ensembl chr 4:122,451,470...122,456,725
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G |
MMP9 |
matrix metallopeptidase 9 |
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ISO |
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RGD |
PMID:9687525 |
RGD:8547843 |
NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561
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G |
VEGFA |
vascular endothelial growth factor A |
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IEP |
mRNA:increased expression: : |
RGD |
PMID:7738351 |
RGD:7421578 |
NCBI chr 6:43,770,211...43,786,487
Ensembl chr 6:43,770,184...43,786,487
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G |
CLU |
clusterin |
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IEP |
mRNA:decreased expression:conjunctiva |
RGD |
PMID:12036968 |
RGD:8699507 |
NCBI chr 8:27,596,917...27,614,700
Ensembl chr 8:27,596,917...27,614,700
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G |
HLA-DQB1 |
major histocompatibility complex, class II, DQ beta 1 |
susceptibility |
IAGP |
DNA:polymorphisms, haplotypes:cds:HLA-DQB1*0301, HLA-DQB1*0201 (human) DNA:polymorphism:cds:HLA-DQB1*0301 (human) |
RGD |
PMID:9683867 PMID:9008223 |
RGD:7365096, RGD:7483589 |
NCBI chr 6:32,659,467...32,666,657
Ensembl chr 6:32,659,467...32,668,383
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G |
HLA-DRB1 |
major histocompatibility complex, class II, DR beta 1 |
susceptibility |
IAGP |
DNA:polymorphism: :DRB1*1101, DRB1*0701(human) DNA:polymorphism: :HLA-DRB1*04(human) |
RGD |
PMID:9683867 PMID:8052655 |
RGD:7365096, RGD:7365103 |
NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848
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G |
IL1RN |
interleukin 1 receptor antagonist |
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IEP |
protein:increased expression:serum (human) |
RGD |
PMID:11448121 |
RGD:8549794 |
NCBI chr 2:113,099,360...113,134,014
Ensembl chr 2:113,099,315...113,134,016
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G |
PTGER3 |
prostaglandin E receptor 3 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21966456 |
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NCBI chr 1:70,852,358...71,047,816
Ensembl chr 1:70,852,353...71,047,816
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G |
TNF |
tumor necrosis factor |
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IEP |
protein:increased expression:Conjunctiva: |
RGD |
PMID:7750940 |
RGD:7394786 |
NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
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G |
ELN |
elastin |
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IDA |
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RGD |
PMID:8256113 |
RGD:9585750 |
NCBI chr 7:74,028,173...74,069,907
Ensembl chr 7:74,027,789...74,069,907
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G |
LTA |
lymphotoxin alpha |
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IAGP |
DNA:polymorphism |
RGD |
PMID:7914110 |
RGD:8548777 |
NCBI chr 6:31,560,610...31,574,324
Ensembl chr 6:31,572,054...31,574,324
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G |
TNF |
tumor necrosis factor |
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IAGP |
DNA:polymorphism:promoter |
RGD |
PMID:7914110 |
RGD:8548777 |
NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
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G |
VEGFA |
vascular endothelial growth factor A |
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IEP |
mRNA:increased expression: : |
RGD |
PMID:7738351 |
RGD:7421578 |
NCBI chr 6:43,770,211...43,786,487
Ensembl chr 6:43,770,184...43,786,487
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G |
CCL26 |
C-C motif chemokine ligand 26 |
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IEP |
protein:increased expression:skin, sebocyte (human) |
RGD |
PMID:22206772 |
RGD:11081159 |
NCBI chr 7:75,769,524...75,791,597
Ensembl chr 7:75,769,533...75,789,896
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G |
COL7A1 |
collagen type VII alpha 1 chain |
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IAGP |
ClinVar Annotator: match by term: Epidermolysis bullosa |
ClinVar |
PMID:10504458 PMID:16971478 PMID:25741868 PMID:28492532 |
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NCBI chr 3:48,564,073...48,595,329
Ensembl chr 3:48,564,073...48,595,329
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G |
EXPH5 |
exophilin 5 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr11:108,505,435...108,607,536
Ensembl chr11:108,505,435...108,593,768
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G |
ITGA6 |
integrin subunit alpha 6 |
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IAGP |
ClinVar Annotator: match by term: Epidermolysis bullosa |
ClinVar |
PMID:14675179 PMID:25741868 |
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NCBI chr 2:172,427,336...172,506,459
Ensembl chr 2:172,234,216...172,506,459
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G |
ITGB4 |
integrin subunit beta 4 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18348258 |
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NCBI chr17:75,721,459...75,757,818
Ensembl chr17:75,721,328...75,757,818
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G |
KRT5 |
keratin 5 |
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IAGP |
ClinVar Annotator: match by term: Epidermolysis bullosa |
ClinVar |
PMID:25741868 |
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NCBI chr12:52,514,575...52,520,394
Ensembl chr12:52,514,575...52,520,530
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G |
LAMB3 |
laminin subunit beta 3 |
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IAGP |
ClinVar Annotator: match by term: Epidermolysis bullosa |
ClinVar |
PMID:25741868 |
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NCBI chr 1:209,614,870...209,652,425
Ensembl chr 1:209,614,870...209,652,425
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G |
LOC126861526 |
BRD4-independent group 4 enhancer GRCh37_chr12:52912066-52913265 |
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IAGP |
ClinVar Annotator: match by term: Epidermolysis bullosa |
ClinVar |
PMID:25741868 |
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NCBI chr12:52,518,282...52,519,481
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G |
COL7A1 |
collagen type VII alpha 1 chain |
susceptibility |
IAGP EXP |
DNA:insertion-deletion ClinVar Annotator: match by term: Dystrophic epidermolysis bullosa | ClinVar Annotator: match by term: Epidermolysis bullosa dystrophica 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 Annotator: match by term: EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE |
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:26143532 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 3:48,564,073...48,595,329
Ensembl chr 3:48,564,073...48,595,329
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G |
IGFBP3 |
insulin like growth factor binding protein 3 |
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IEP |
mRNA,protein:decreased expression:skin: |
RGD |
PMID:15140235 |
RGD:12743601 |
NCBI chr 7:45,912,245...45,921,272
Ensembl chr 7:45,912,245...45,921,874
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G |
MIR711 |
microRNA 711 |
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IAGP |
ClinVar Annotator: match by term: Epidermolysis bullosa dystrophica |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 3:48,578,902...48,578,977
Ensembl chr 3:48,578,902...48,578,977
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G |
MMP1 |
matrix metallopeptidase 1 |
severity |
IAGP |
DNA:insertion:promoter:g.-1607_-1606insG (human) ClinVar Annotator: match by term: Hallopeau-Siemens Disease |
ClinVar RGD |
PMID:25741868 PMID:28492532 PMID:18030675 |
RGD:8549728 |
NCBI chr11:102,789,919...102,798,160
Ensembl chr11:102,789,401...102,798,160
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G |
COL7A1 |
collagen type VII alpha 1 chain |
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IAGP |
ClinVar Annotator: match by term: Epidermolysis bullosa dystrophica, autosomal recessive, localisata variant |
ClinVar |
PMID:7695699 PMID:8218237 PMID:8755915 PMID:9536098 PMID:9804332 PMID:10408773 PMID:10504458 PMID:11781296 PMID:12485454 PMID:12787275 PMID:15888141 PMID:16271705 PMID:16484981 PMID:16965329 PMID:16971478 PMID:17576681 PMID:18565177 PMID:19344236 PMID:19681861 PMID:20598510 PMID:22058051 PMID:22266148 PMID:24033266 PMID:25741868 PMID:28492532 PMID:31001817 PMID:31930626 PMID:35979658 More...
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NCBI chr 3:48,564,073...48,595,329
Ensembl chr 3:48,564,073...48,595,329
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G |
COL7A1 |
collagen type VII alpha 1 chain |
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IAGP EXP |
ClinVar Annotator: match by term: Epidermolysis bullosa pruriginosa, autosomal dominant ClinVar Annotator: match by term: DYSTROPHIC EPIDERMOLYSIS BULLOSA PRURIGINOSA ClinVar Annotator: match by term: DYSTROPHIC EPIDERMOLYSIS BULLOSA PRURIGINOSA | ClinVar Annotator: match by term: Epidermolysis bullosa pruriginosa CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Epidermolysis bullosa pruriginosa, autosomal recessive |
ClinVar CTD OMIM |
PMID:7695699 PMID:7833933 PMID:8088783 PMID:8218237 PMID:8618004 PMID:8644730 PMID:8755915 PMID:8900535 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:10944088 PMID:11781296 PMID:12207583 PMID:12485454 PMID:12653705 PMID:12787275 PMID:12813757 PMID:15816848 PMID:15888141 PMID:16189623 PMID:16199547 PMID:16271705 PMID:16484981 PMID:16500083 PMID:16965329 PMID:16971478 PMID:17425959 PMID:17434045 PMID:17495952 PMID:17576681 PMID:17916216 PMID:18429782 PMID:18440202 PMID:18565177 PMID:18951764 PMID:19344236 PMID:19439919 PMID:19665875 PMID:19681861 PMID:19694005 PMID:20184583 PMID:20357813 PMID:20598510 PMID:20920254 PMID:21448560 PMID:21471992 PMID:22058051 PMID:22209565 PMID:22266148 PMID:23237810 PMID:23786535 PMID:23947675 PMID:24032424 PMID:24033266 PMID:24210835 PMID:24213372 PMID:24252097 PMID:24317394 PMID:24599399 PMID:24947307 PMID:25155989 PMID:25201089 PMID:25525159 PMID:25741868 PMID:26076072 PMID:26102279 PMID:26143532 PMID:26148662 PMID:26446410 PMID:26467025 PMID:26763448 PMID:26864810 PMID:27153395 PMID:27544590 PMID:27899325 PMID:28492532 PMID:28830826 PMID:29364557 PMID:29427316 PMID:29473190 PMID:29500833 PMID:30280950 PMID:31001817 PMID:31670143 PMID:31786163 PMID:31930626 PMID:32383240 PMID:32484238 PMID:32506467 PMID:32860008 PMID:33274474 PMID:33587123 PMID:33969388 PMID:34046686 PMID:34230977 PMID:34435747 PMID:34597860 PMID:35598269 PMID:35979658 PMID:36287101 More...
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NCBI chr 3:48,564,073...48,595,329
Ensembl chr 3:48,564,073...48,595,329
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G |
ITGB4 |
integrin subunit beta 4 |
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IAGP |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Cockayne-Touraine type |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr17:75,721,459...75,757,818
Ensembl chr17:75,721,328...75,757,818
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G |
KRT14 |
keratin 14 |
susceptibility |
IAGP ISS EXP |
DNA:point mutations ClinVar Annotator: match by term: Epidermolysis bullosa simplex ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Cockayne-Touraine type OMIM:601001 | OMIM:615425 ClinVar Annotator: match by term: Epidermolysis bullosa simplex, autosomal recessive 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...
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RGD:1600173 |
NCBI chr17:41,582,279...41,586,895
Ensembl chr17:41,582,279...41,586,895
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G |
KRT5 |
keratin 5 |
susceptibility |
IAGP EXP |
DNA:mutation ClinVar Annotator: match by term: Epidermolysis bullosa simplex 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...
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RGD:1600195 |
NCBI chr12:52,514,575...52,520,394
Ensembl chr12:52,514,575...52,520,530
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G |
LOC126861525 |
BRD4-independent group 4 enhancer GRCh37_chr12:52909857-52911056 |
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IAGP |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Cockayne-Touraine type |
ClinVar |
PMID:1718160 PMID:7686424 PMID:8595431 PMID:9036937 PMID:16098032 PMID:16601668 PMID:16786515 PMID:16882168 PMID:17039244 PMID:17855059 PMID:20030639 PMID:20199538 PMID:20301543 PMID:21623745 PMID:25741868 PMID:26743602 PMID:28492532 PMID:28561874 PMID:30515866 PMID:31001817 PMID:31579952 More...
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NCBI chr12:52,516,073...52,517,272
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G |
LOC126861526 |
BRD4-independent group 4 enhancer GRCh37_chr12:52912066-52913265 |
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IAGP |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex |
ClinVar |
PMID:7682695 PMID:8807337 PMID:11407988 PMID:11973334 PMID:16882168 PMID:17034543 PMID:21375516 PMID:21623745 PMID:25741868 PMID:26432462 PMID:26707537 PMID:28492532 More...
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NCBI chr12:52,518,282...52,519,481
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G |
MMP9 |
matrix metallopeptidase 9 |
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IEP |
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RGD |
PMID:23894602 |
RGD:13204851 |
NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561
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G |
PLEC |
plectin |
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IAGP |
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 8:143,915,153...143,976,745
Ensembl chr 8:143,915,153...143,976,734
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G |
KRT5 |
keratin 5 |
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IAGP EXP |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex with migratory circinate erythema CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX 2E, WITH MIGRATORY CIRCINATE ERYTHEMA |
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...
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NCBI chr12:52,514,575...52,520,394
Ensembl chr12:52,514,575...52,520,530
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G |
LOC126861525 |
BRD4-independent group 4 enhancer GRCh37_chr12:52909857-52911056 |
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IAGP |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex with migratory circinate erythema |
ClinVar |
PMID:25741868 PMID:29180315 |
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NCBI chr12:52,516,073...52,517,272
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G |
LOC126861526 |
BRD4-independent group 4 enhancer GRCh37_chr12:52912066-52913265 |
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IAGP |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex with migratory circinate erythema |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr12:52,518,282...52,519,481
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G |
DST |
dystonin |
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IAGP |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency 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: 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, autosomal recessive 2 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, autosomal recessive 2 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 |
ClinVar OMIM |
PMID:9536098 PMID:17576681 PMID:20164846 PMID:22113475 PMID:22522446 PMID:24033266 PMID:25059916 PMID:25741868 PMID:25790160 PMID:28492532 PMID:30371979 PMID:31474762 PMID:33471381 More...
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NCBI chr 6:56,457,996...56,954,830
Ensembl chr 6:56,457,987...56,954,830
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G |
DST-AS1 |
DST antisense RNA 1 |
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IAGP |
ClinVar Annotator: match by term: DST-related condition |
ClinVar |
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NCBI chr 6:56,843,986...56,864,338
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G |
LOC129389544 |
MPRA-validated peak5860 silencer |
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IAGP |
ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX 3, LOCALIZED OR GENERALIZED INTERMEDIATE, WITH BP230 DEFICIENCY |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 6:56,561,318...56,561,518
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G |
LOC129996656 |
ATAC-STARR-seq lymphoblastoid active region 24702 |
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IAGP |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency ClinVar Annotator: match by term: DST-related condition ClinVar Annotator: match by term: Epidermolysis bullosa simplex, autosomal recessive 2 |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 6:56,593,891...56,594,150
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G |
EXPH5 |
exophilin 5 |
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IAGP |
ClinVar Annotator: match by term: EXPH5-related condition | ClinVar Annotator: match by term: Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive |
OMIM ClinVar |
PMID:23176819 PMID:24005056 PMID:24443915 PMID:25741868 PMID:26211931 PMID:27384765 PMID:27730671 PMID:28492532 PMID:28830826 PMID:30016581 PMID:32176379 More...
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NCBI chr11:108,505,435...108,607,536
Ensembl chr11:108,505,435...108,593,768
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G |
LOC130001334 |
ATAC-STARR-seq lymphoblastoid silent region 19628 |
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IAGP |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5C, with pyloric atresia |
ClinVar |
PMID:15681471 |
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NCBI chr 8:143,933,758...143,934,037
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G |
LOC130001338 |
ATAC-STARR-seq lymphoblastoid active region 28078 |
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IAGP |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5C, with pyloric atresia ClinVar Annotator: match by term: Epidermolysis bullosa simplex with pyloric atresia |
ClinVar |
PMID:25712130 PMID:25741868 PMID:26467025 |
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NCBI chr 8:143,939,334...143,939,573
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G |
PLEC |
plectin |
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IAGP EXP |
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 5C, with pyloric atresia | ClinVar Annotator: match by term: Epidermolysis bullosa simplex 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 |
ClinVar CTD OMIM |
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:27456059 PMID:28492532 PMID:29050564 PMID:29453417 PMID:29590070 PMID:30161220 PMID:30691450 PMID:30919572 PMID:31862442 PMID:32017015 PMID:32576226 More...
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NCBI chr 8:143,915,153...143,976,745
Ensembl chr 8:143,915,153...143,976,734
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G |
ARHGAP10 |
Rho GTPase activating protein 10 |
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IAGP |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy |
ClinVar |
PMID:25741868 |
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NCBI chr 4:147,732,088...148,072,776
Ensembl chr 4:147,732,063...148,072,776
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G |
BCLAF1 |
BCL2 associated transcription factor 1 |
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IAGP |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy |
ClinVar |
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NCBI chr 6:136,256,627...136,289,846
Ensembl chr 6:136,256,627...136,289,851
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G |
CCDST |
cervical cancer associated DHX9 suppressive transcript |
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IAGP |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy |
ClinVar |
PMID:25741868 |
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NCBI chr 1:152,189,303...152,366,692
Ensembl chr 1:152,165,553...152,445,456
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G |
DCUN1D2 |
defective in cullin neddylation 1 domain containing 2 |
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IAGP |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy |
ClinVar |
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NCBI chr13:113,455,819...113,491,563
Ensembl chr13:113,455,819...113,490,951
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G |
FREM2 |
FRAS1 related extracellular matrix 2 |
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IAGP |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy |
ClinVar |
PMID:28492532 |
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NCBI chr13:38,687,077...38,887,131
Ensembl chr13:38,687,077...38,887,131
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G |
GPR33 |
G protein-coupled receptor 33 |
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IAGP |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy |
ClinVar |
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NCBI chr14:31,482,875...31,488,039
Ensembl chr14:31,482,875...31,488,039
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G |
HRNR |
hornerin |
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IAGP |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy |
ClinVar |
PMID:25741868 |
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NCBI chr 1:152,212,076...152,224,193
Ensembl chr 1:152,212,076...152,224,193
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G |
IDS |
iduronate 2-sulfatase |
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IAGP |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy |
ClinVar |
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NCBI chr X:149,476,988...149,505,306
Ensembl chr X:149,476,988...149,521,096
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G |
LOC130001338 |
ATAC-STARR-seq lymphoblastoid active region 28078 |
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IAGP |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy |
ClinVar |
PMID:25712130 PMID:25741868 PMID:26467025 |
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NCBI chr 8:143,939,334...143,939,573
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G |
LOC130001342 |
ATAC-STARR-seq lymphoblastoid silent region 19633 |
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IAGP |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy |
ClinVar |
PMID:25741868 |
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NCBI chr 8:143,942,381...143,942,840
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G |
PLEC |
plectin |
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IAGP |
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:27456059 PMID:28492532 PMID:28824526 PMID:28830826 PMID:29050564 PMID:29453417 PMID:29590070 PMID:30161220 PMID:30691450 PMID:30919572 PMID:31862442 PMID:32017015 PMID:32576226 PMID:32725257 More...
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NCBI chr 8:143,915,153...143,976,745
Ensembl chr 8:143,915,153...143,976,734
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G |
RP1L1 |
RP1 like 1 |
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IAGP |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy |
ClinVar |
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NCBI chr 8:10,606,349...10,655,143
Ensembl chr 8:10,606,349...10,712,187
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G |
TMEM249 |
transmembrane protein 249 |
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IAGP |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy |
ClinVar |
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NCBI chr 8:144,353,228...144,354,931
Ensembl chr 8:144,352,219...144,354,954
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G |
CD151 |
CD151 molecule (Raph blood group) |
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IAGP EXP |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 7, with nephropathy and deafness ClinVar Annotator: match by term: CD151-related condition | ClinVar Annotator: match by term: Epidermolysis bullosa simplex 7, with nephropathy and deafness CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM |
PMID:9536098 PMID:15265795 PMID:17576681 PMID:25741868 PMID:25741871 PMID:28492532 More...
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NCBI chr11:832,952...838,831
Ensembl chr11:832,887...839,831
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G |
KRT14 |
keratin 14 |
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ISS IAGP |
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 chr17:41,582,279...41,586,895
Ensembl chr17:41,582,279...41,586,895
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G |
KRT5 |
keratin 5 |
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ISS IAGP |
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 chr12:52,514,575...52,520,394
Ensembl chr12:52,514,575...52,520,530
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G |
LOC126861525 |
BRD4-independent group 4 enhancer GRCh37_chr12:52909857-52911056 |
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IAGP |
ClinVar Annotator: match by term: Epidermolysis bullosa herpetiformis, Dowling-Meara |
ClinVar |
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 chr12:52,516,073...52,517,272
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G |
KLHL24 |
kelch like family member 24 |
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IAGP |
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 chr 3:183,635,623...183,684,519
Ensembl chr 3:183,635,610...183,684,519
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G |
KRT14 |
keratin 14 |
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IAGP |
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 chr17:41,582,279...41,586,895
Ensembl chr17:41,582,279...41,586,895
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G |
KRT5 |
keratin 5 |
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IAGP |
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 chr12:52,514,575...52,520,394
Ensembl chr12:52,514,575...52,520,530
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LOC126861525 |
BRD4-independent group 4 enhancer GRCh37_chr12:52909857-52911056 |
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IAGP |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Koebner type |
ClinVar |
PMID:20199538 PMID:25741868 |
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NCBI chr12:52,516,073...52,517,272
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ITGB4 |
integrin subunit beta 4 |
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IAGP |
ClinVar Annotator: match by term: Localized epidermolysis bullosa simplex |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr17:75,721,459...75,757,818
Ensembl chr17:75,721,328...75,757,818
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KRT14 |
keratin 14 |
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IAGP |
ClinVar Annotator: match by term: Localized epidermolysis bullosa simplex |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr17:41,582,279...41,586,895
Ensembl chr17:41,582,279...41,586,895
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KRT5 |
keratin 5 |
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IAGP |
ClinVar Annotator: match by term: Localized epidermolysis bullosa simplex ClinVar Annotator: match by term: Epidermolysis Bullosa Simplex, Weber-Cockayne Type |
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 chr12:52,514,575...52,520,394
Ensembl chr12:52,514,575...52,520,530
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LOC126861525 |
BRD4-independent group 4 enhancer GRCh37_chr12:52909857-52911056 |
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IAGP |
ClinVar Annotator: match by term: Localized epidermolysis bullosa simplex |
ClinVar |
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 chr12:52,516,073...52,517,272
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LOC130001338 |
ATAC-STARR-seq lymphoblastoid active region 28078 |
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IAGP |
ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX 5A, OGNA TYPE |
ClinVar |
PMID:25741868 PMID:26467025 |
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NCBI chr 8:143,939,334...143,939,573
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PLEC |
plectin |
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IAGP ISS EXP |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Ogna type 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:23757202 PMID:23774525 PMID:24033266 PMID:25741868 PMID:26467025 PMID:26498160 PMID:27456059 PMID:28492532 PMID:29050564 PMID:29334134 PMID:29453417 PMID:29590070 PMID:30161220 PMID:30691450 PMID:30919572 PMID:31862442 PMID:32017015 PMID:32576226 More...
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NCBI chr 8:143,915,153...143,976,745
Ensembl chr 8:143,915,153...143,976,734
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KRT5 |
keratin 5 |
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IAGP EXP |
ClinVar Annotator: match by term: Speckled hyperpigmentation, palmo-plantar punctate keratoses and childhood blistering CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Epidermolysis bullosa simplex with mottled pigmentation ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX 2F, WITH MOTTLED PIGMENTATION |
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 chr12:52,514,575...52,520,394
Ensembl chr12:52,514,575...52,520,530
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LOC126861525 |
BRD4-independent group 4 enhancer GRCh37_chr12:52909857-52911056 |
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IAGP |
ClinVar Annotator: match by term: Speckled hyperpigmentation, palmo-plantar punctate keratoses and childhood blistering |
ClinVar |
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 chr12:52,516,073...52,517,272
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ADCK5 |
aarF domain containing kinase 5 |
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IAGP |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 8:144,373,088...144,393,242
Ensembl chr 8:144,373,101...144,393,242
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BOP1 |
BOP1 ribosomal biogenesis factor |
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IAGP |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 8:144,262,045...144,291,438
Ensembl chr 8:144,262,045...144,291,438
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CCDC166 |
coiled-coil domain containing 166 |
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IAGP |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 8:143,706,694...143,708,109
Ensembl chr 8:143,706,694...143,708,109
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CPSF1 |
cleavage and polyadenylation specific factor 1 |
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IAGP |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 8:144,393,231...144,409,335
Ensembl chr 8:144,393,229...144,409,335
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CYC1 |
cytochrome c1 |
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IAGP |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 8:144,095,076...144,097,525
Ensembl chr 8:144,095,039...144,097,525
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CYP11B1 |
cytochrome P450 family 11 subfamily B member 1 |
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IAGP |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:28492532 |
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NCBI chr 8:142,872,357...142,879,825
Ensembl chr 8:142,872,356...142,879,846
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CYP11B2 |
cytochrome P450 family 11 subfamily B member 2 |
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IAGP |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:28492532 |
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NCBI chr 8:142,910,559...142,917,843
Ensembl chr 8:142,910,559...142,917,843
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DGAT1 |
diacylglycerol O-acyltransferase 1 |
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IAGP |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 8:144,314,584...144,326,852
Ensembl chr 8:144,314,584...144,326,910
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EEF1D |
eukaryotic translation elongation factor 1 delta |
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IAGP |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 8:143,579,728...143,597,415
Ensembl chr 8:143,579,697...143,599,541
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EPPK1 |
epiplakin 1 |
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IAGP |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 8:143,857,324...143,879,194
Ensembl chr 8:143,857,324...143,878,467
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EXOSC4 |
exosome component 4 |
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IAGP |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 8:144,064,056...144,080,648
Ensembl chr 8:144,078,648...144,080,648
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FAM83H |
family with sequence similarity 83 member H |
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IAGP |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 8:143,723,933...143,733,779
Ensembl chr 8:143,723,933...143,738,234
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FBXL6 |
F-box and leucine rich repeat protein 6 |
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IAGP |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 8:144,355,431...144,358,472
Ensembl chr 8:144,355,431...144,359,376
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FOXH1 |
forkhead box H1 |
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IAGP |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 8:144,473,412...144,475,849
Ensembl chr 8:144,473,412...144,475,849
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GFUS |
GDP-L-fucose synthase |
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IAGP |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 8:143,612,618...143,618,048
Ensembl chr 8:143,612,618...143,618,048
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GLI4 |
GLI family zinc finger 4 |
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IAGP |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 8:143,267,445...143,276,931
Ensembl chr 8:143,267,433...143,276,931
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GML |
glycosylphosphatidylinositol anchored molecule like |
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IAGP |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:28492532 |
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NCBI chr 8:142,834,801...142,846,851
Ensembl chr 8:142,834,247...142,916,506
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GPAA1 |
glycosylphosphatidylinositol anchor attachment 1 |
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IAGP |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 8:144,082,634...144,086,216
Ensembl chr 8:144,082,337...144,093,149
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GPIHBP1 |
glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1 |
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IAGP |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 8:143,213,218...143,217,170
Ensembl chr 8:143,213,218...143,217,170
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GPT |
glutamic--pyruvic transaminase |
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IAGP |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:28492532 |
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NCBI chr 8:144,503,068...144,507,172
Ensembl chr 8:144,502,973...144,507,174
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GRINA |
glutamate ionotropic receptor NMDA type subunit associated protein 1 |
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IAGP |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 8:143,990,056...143,993,415
Ensembl chr 8:143,990,056...143,993,415
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GSDMD |
gasdermin D |
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IAGP |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 8:143,553,387...143,563,062
Ensembl chr 8:143,553,207...143,563,062
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HGH1 |
HGH1 homolog |
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IAGP |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 8:144,137,774...144,140,851
Ensembl chr 8:144,137,774...144,140,851
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HSF1 |
heat shock transcription factor 1 |
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IAGP |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 8:144,291,604...144,314,720
Ensembl chr 8:144,291,591...144,314,720
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KIFC2 |
kinesin family member C2 |
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IAGP |
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 |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 8:144,466,049...144,474,202
Ensembl chr 8:144,466,043...144,474,202
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LOC121331314 |
Sharpr-MPRA regulatory region 8265 |
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IAGP |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:23289980 PMID:25640679 PMID:28492532 |
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NCBI chr 8:143,940,221...143,940,515
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LOC130001334 |
ATAC-STARR-seq lymphoblastoid silent region 19628 |
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IAGP |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:9536098 PMID:17576681 PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28824526 More...
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NCBI chr 8:143,933,758...143,934,037
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LOC130001337 |
ATAC-STARR-seq lymphoblastoid silent region 19630 |
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IAGP |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:23289980 PMID:25640679 PMID:28492532 |
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NCBI chr 8:143,939,214...143,939,313
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LOC130001338 |
ATAC-STARR-seq lymphoblastoid active region 28078 |
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IAGP |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex with muscular dystrophy ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:23289980 PMID:25640679 PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr 8:143,939,334...143,939,573
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LOC130001339 |
ATAC-STARR-seq lymphoblastoid silent region 19631 |
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IAGP |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:23289980 PMID:25640679 PMID:28492532 |
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NCBI chr 8:143,939,594...143,939,823
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G |
LOC130001340 |
ATAC-STARR-seq lymphoblastoid active region 28079 |
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IAGP |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:23289980 PMID:25640679 PMID:28492532 |
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NCBI chr 8:143,939,984...143,940,043
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G |
LOC130001341 |
ATAC-STARR-seq lymphoblastoid silent region 19632 |
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IAGP |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:23289980 PMID:25640679 PMID:28492532 |
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NCBI chr 8:143,942,071...143,942,160
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LOC130001342 |
ATAC-STARR-seq lymphoblastoid silent region 19633 |
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IAGP |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:23289980 PMID:25640679 PMID:28492532 |
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NCBI chr 8:143,942,381...143,942,840
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G |
LOC130001343 |
ATAC-STARR-seq lymphoblastoid active region 28080 |
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IAGP |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:23289980 PMID:25640679 PMID:28492532 |
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NCBI chr 8:143,943,061...143,943,310
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LOC130001344 |
ATAC-STARR-seq lymphoblastoid silent region 19634 |
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IAGP |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:23289980 PMID:25640679 PMID:28492532 |
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NCBI chr 8:143,943,911...143,944,180
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LY6D |
lymphocyte antigen 6 family member D |
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IAGP |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:28492532 |
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NCBI chr 8:142,784,882...142,786,539
Ensembl chr 8:142,784,882...142,786,539
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LY6E |
lymphocyte antigen 6 family member E |
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IAGP |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:28492532 |
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NCBI chr 8:143,018,529...143,022,409
Ensembl chr 8:143,017,982...143,023,832
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LY6H |
lymphocyte antigen 6 family member H |
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IAGP |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:28492532 |
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NCBI chr 8:143,157,916...143,160,654
Ensembl chr 8:143,157,914...143,160,711
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G |
LY6S-AS1 |
LY6S antisense RNA 1 |
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IAGP |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:28492532 |
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NCBI chr 8:143,039,209...143,054,303
Ensembl chr 8:143,039,209...143,060,684
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LYNX1 |
Ly6/neurotoxin 1 |
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IAGP |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:28492532 |
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NCBI chr 8:142,771,197...142,777,872
Ensembl chr 8:142,771,197...142,777,810
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LYPD2 |
LY6/PLAUR domain containing 2 |
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IAGP |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:28492532 |
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NCBI chr 8:142,750,150...142,752,532
Ensembl chr 8:142,750,150...142,752,532
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MAF1 |
MAF1 homolog, negative regulator of RNA polymerase III |
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IAGP |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 8:144,104,461...144,107,611
Ensembl chr 8:144,104,420...144,107,611
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G |
MAFA |
MAF bZIP transcription factor A |
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IAGP |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 8:143,428,064...143,430,732
Ensembl chr 8:143,419,182...143,430,732
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MAPK15 |
mitogen-activated protein kinase 15 |
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IAGP |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 8:143,716,349...143,722,458
Ensembl chr 8:143,716,340...143,722,458
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MFSD3 |
major facilitator superfamily domain containing 3 |
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IAGP |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:28492532 |
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NCBI chr 8:144,509,070...144,511,213
Ensembl chr 8:144,509,070...144,511,213
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MIR1234 |
microRNA 1234 |
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IAGP |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 8:144,400,086...144,400,165
Ensembl chr 8:144,400,086...144,400,165
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MIR661 |
microRNA 661 |
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IAGP |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 8:143,945,191...143,945,279
Ensembl chr 8:143,945,191...143,945,279
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MROH1 |
maestro heat like repeat family member 1 |
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IAGP |
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 |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 8:144,148,016...144,261,926
Ensembl chr 8:144,148,016...144,261,927
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MROH6 |
maestro heat like repeat family member 6 |
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IAGP |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 8:143,566,192...143,572,772
Ensembl chr 8:143,566,192...143,572,772
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NAPRT |
nicotinate phosphoribosyltransferase |
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IAGP |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 8:143,572,874...143,578,330
Ensembl chr 8:143,574,785...143,578,649
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NRBP2 |
nuclear receptor binding protein 2 |
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IAGP |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 8:143,829,776...143,840,973
Ensembl chr 8:143,833,583...143,840,973
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OPLAH |
5-oxoprolinase, ATP-hydrolysing |
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IAGP |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 8:144,050,322...144,063,961
Ensembl chr 8:144,051,266...144,063,965
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PARP10 |
poly(ADP-ribose) polymerase family member 10 |
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IAGP |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 8:143,977,158...144,012,764
Ensembl chr 8:143,977,153...144,012,772
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PLEC |
plectin |
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IAGP ISS EXP |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with 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 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 |
ClinVar MouseDO CTD OMIM |
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:23289980 PMID:23757202 PMID:23774525 PMID:24033266 PMID:24253200 PMID:24292195 PMID:25356899 PMID:25454730 PMID:25640679 PMID:25741868 PMID:25987458 PMID:26467025 PMID:26498160 PMID:27234031 PMID:27392081 PMID:27456059 PMID:27813154 PMID:28400893 PMID:28447722 PMID:28492532 PMID:28824526 PMID:28830826 PMID:29050564 PMID:29334134 PMID:29352809 PMID:29453417 PMID:29590070 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:31699123 PMID:31862442 PMID:32017015 PMID:32576226 PMID:32707200 PMID:32725257 PMID:33057194 PMID:33960018 PMID:34046686 PMID:34572129 PMID:35416532 PMID:35579050 PMID:35670010 PMID:35815343 PMID:35982159 PMID:38818036 More...
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NCBI chr 8:143,915,153...143,976,745
Ensembl chr 8:143,915,153...143,976,734
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PPP1R16A |
protein phosphatase 1 regulatory subunit 16A |
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IAGP |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:28492532 |
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NCBI chr 8:144,477,982...144,502,121
Ensembl chr 8:144,477,969...144,502,121
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PUF60 |
poly(U) binding splicing factor 60 |
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IAGP |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 8:143,816,344...143,829,315
Ensembl chr 8:143,816,344...143,830,709
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PYCR3 |
pyrroline-5-carboxylate reductase 3 |
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IAGP |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 8:143,603,210...143,609,575
Ensembl chr 8:143,603,210...143,609,773
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RECQL4 |
RecQ like helicase 4 |
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IAGP |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:28492532 |
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NCBI chr 8:144,511,288...144,517,833
Ensembl chr 8:144,511,288...144,517,845
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RHPN1 |
rhophilin Rho GTPase binding protein 1 |
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IAGP |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 8:143,364,255...143,384,221
Ensembl chr 8:143,368,876...143,384,221
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SCRIB |
scribble planar cell polarity protein |
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IAGP |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 8:143,790,925...143,815,773
Ensembl chr 8:143,790,920...143,815,773
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SCRT1 |
scratch family transcriptional repressor 1 |
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IAGP |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 8:144,330,565...144,336,482
Ensembl chr 8:144,330,565...144,336,482
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SCX |
scleraxis bHLH transcription factor |
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IAGP |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 8:144,266,453...144,268,481
Ensembl chr 8:144,266,453...144,268,481
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SHARPIN |
SHANK associated RH domain interactor |
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IAGP |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 8:144,098,637...144,103,773
Ensembl chr 8:144,098,633...144,108,124
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SLC39A4 |
solute carrier family 39 member 4 |
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IAGP |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 8:144,412,414...144,416,844
Ensembl chr 8:144,409,742...144,416,844
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SLC52A2 |
solute carrier family 52 member 2 |
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IAGP |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 8:144,358,552...144,361,272
Ensembl chr 8:144,333,957...144,361,286
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SLURP1 |
secreted LY6/PLAUR domain containing 1 |
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IAGP |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:28492532 |
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NCBI chr 8:142,740,949...142,742,406
Ensembl chr 8:142,740,949...142,742,406
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SPATC1 |
spermatogenesis and centriole associated 1 |
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IAGP |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 8:144,010,977...144,047,114
Ensembl chr 8:144,012,280...144,047,114
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TIGD5 |
tigger transposable element derived 5 |
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IAGP |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 8:143,597,831...143,603,224
Ensembl chr 8:143,597,831...143,603,224
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TMEM249 |
transmembrane protein 249 |
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IAGP |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 8:144,353,228...144,354,931
Ensembl chr 8:144,352,219...144,354,954
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TONSL |
tonsoku like, DNA repair protein |
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IAGP |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 8:144,428,775...144,444,440
Ensembl chr 8:144,428,775...144,444,440
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TOP1MT |
DNA topoisomerase I mitochondrial |
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IAGP |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 8:143,309,324...143,359,977
Ensembl chr 8:143,304,384...143,359,979
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VPS28 |
VPS28 subunit of ESCRT-I |
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IAGP |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 8:144,423,617...144,428,548
Ensembl chr 8:144,423,601...144,428,563
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ZC3H3 |
zinc finger CCCH-type containing 3 |
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IAGP |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 8:143,437,659...143,541,447
Ensembl chr 8:143,437,659...143,541,447
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ZFP41 |
ZFP41 zinc finger protein |
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IAGP |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 8:143,246,939...143,262,705
Ensembl chr 8:143,246,821...143,262,705
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ZFTRAF1 |
zinc finger TRAF-type containing 1 |
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IAGP |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 8:144,449,582...144,462,871
Ensembl chr 8:144,449,582...144,462,871
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ZNF623 |
zinc finger protein 623 |
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IAGP |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 8:143,636,019...143,653,730
Ensembl chr 8:143,636,019...143,656,418
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ZNF696 |
zinc finger protein 696 |
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IAGP |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 8:143,291,417...143,299,952
Ensembl chr 8:143,289,676...143,299,952
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ZNF707 |
zinc finger protein 707 |
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IAGP |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 8:143,684,479...143,695,385
Ensembl chr 8:143,684,452...143,713,898
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COL7A1 |
collagen type VII alpha 1 chain |
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IAGP EXP |
ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA DYSTROPHICA, BART TYPE CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM |
PMID:2425097 PMID:5910871 PMID:7695699 PMID:7833933 PMID:8088783 PMID:8218237 PMID:8618004 PMID:8618021 PMID:8644730 PMID:8752681 PMID:8755915 PMID:8900535 PMID:9242516 PMID:9326325 PMID:9536098 PMID:9666834 PMID:9804332 PMID:9881948 PMID:10383749 PMID:10408773 PMID:10504458 PMID:10836608 PMID:10944088 PMID:11710955 PMID:11781296 PMID:11843659 PMID:12207583 PMID:12485454 PMID:12653705 PMID:12787275 PMID:12813757 PMID:15816848 PMID:15888141 PMID:16189623 PMID:16199547 PMID:16271705 PMID:16484981 PMID:16500083 PMID:16965329 PMID:16971478 PMID:17425959 PMID:17495952 PMID:17576681 PMID:17916216 PMID:18429782 PMID:18440202 PMID:18565177 PMID:18951764 PMID:19344236 PMID:19439919 PMID:19665875 PMID:19681861 PMID:19694005 PMID:20184583 PMID:20357813 PMID:20598510 PMID:20920254 PMID:21448560 PMID:21471992 PMID:22058051 PMID:22209565 PMID:22266148 PMID:23237810 PMID:23786535 PMID:23947675 PMID:24032424 PMID:24033266 PMID:24210835 PMID:24213372 PMID:24252097 PMID:24317394 PMID:24599399 PMID:24947307 PMID:25155989 PMID:25201089 PMID:25525159 PMID:25741868 PMID:26076072 PMID:26102279 PMID:26143532 PMID:26148662 PMID:26446410 PMID:26467025 PMID:26763448 PMID:26864810 PMID:27153395 PMID:27544590 PMID:27899325 PMID:28492532 PMID:28830826 PMID:29364557 PMID:29427316 PMID:29473190 PMID:29500833 PMID:29963685 PMID:30280950 PMID:31001817 PMID:31670143 PMID:31786163 PMID:31930626 PMID:32383240 PMID:32484238 PMID:32506467 PMID:32860008 PMID:33274474 PMID:33587123 PMID:33969388 PMID:34230977 PMID:34435747 PMID:35979658 PMID:36287101 More...
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NCBI chr 3:48,564,073...48,595,329
Ensembl chr 3:48,564,073...48,595,329
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DSP |
desmoplakin |
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IAGP EXP |
ClinVar Annotator: match by term: Lethal acantholytic epidermolysis bullosa CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM |
PMID:2450378 PMID:3198322 PMID:9536098 PMID:10395892 PMID:11063735 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: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:29386531 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:37198425 PMID:37589201 PMID:37904629 PMID:37936624 PMID:37937776 More...
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NCBI chr 6:7,541,671...7,586,714
Ensembl chr 6:7,541,326...7,586,717
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DSP-AS1 |
DSP antisense RNA 1 |
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IAGP |
ClinVar Annotator: match by term: Lethal acantholytic epidermolysis bullosa |
ClinVar |
PMID:10395892 PMID:16199547 PMID:16917092 PMID:18632414 PMID:20129281 PMID:20152563 PMID:20716751 PMID:21606396 PMID:21636032 PMID:23137101 PMID:23299917 PMID:23381804 PMID:23671136 PMID:23861362 PMID:24033266 PMID:24070718 PMID:24503780 PMID:25225338 PMID:25227139 PMID:25691752 PMID:25741868 PMID:25765472 PMID:26569459 PMID:26656175 PMID:27054166 PMID:27153395 PMID:27435932 PMID:28473349 PMID:28492532 PMID:30847666 PMID:34298581 PMID:34815391 PMID:34935411 PMID:35581137 More...
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NCBI chr 6:7,540,451...7,543,083
Ensembl chr 6:7,539,659...7,543,119
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G |
CD40 |
CD40 molecule |
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IEP |
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RGD |
PMID:18050371 |
RGD:8547765 |
NCBI chr20:46,118,314...46,129,858
Ensembl chr20:46,118,271...46,129,863
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G |
CD40LG |
CD40 ligand |
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IEP |
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RGD |
PMID:18050371 |
RGD:8547765 |
NCBI chr X:136,648,158...136,660,390
Ensembl chr X:136,648,158...136,660,390
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G |
CD8A |
CD8 subunit alpha |
susceptibility |
IEP |
associated with adult T-cell leukemia;mRNA:increased expression:blood (human) |
RGD |
PMID:32433748 |
RGD:124715447 |
NCBI chr 2:86,784,605...86,808,396
Ensembl chr 2:86,784,610...86,808,396
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G |
HLA-DQB1 |
major histocompatibility complex, class II, DQ beta 1 |
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IAGP |
DNA:polymorphisms (human) |
RGD |
PMID:9627123 |
RGD:5147868 |
NCBI chr 6:32,659,467...32,666,657
Ensembl chr 6:32,659,467...32,668,383
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G |
MASP2 |
MBL associated serine protease 2 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12904520 |
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NCBI chr 1:11,026,523...11,047,239
Ensembl chr 1:11,022,009...11,047,239
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G |
VEGFA |
vascular endothelial growth factor A |
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IEP |
mRNA:increased expression: : |
RGD |
PMID:7738351 |
RGD:7421578 |
NCBI chr 6:43,770,211...43,786,487
Ensembl chr 6:43,770,184...43,786,487
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G |
KLHL24 |
kelch like family member 24 |
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IAGP |
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 chr 3:183,635,623...183,684,519
Ensembl chr 3:183,635,610...183,684,519
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G |
KRT14 |
keratin 14 |
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IAGP |
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 chr17:41,582,279...41,586,895
Ensembl chr17:41,582,279...41,586,895
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G |
KRT5 |
keratin 5 |
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IAGP |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Koebner type |
ClinVar |
PMID:7520042 PMID:8807337 PMID:20199538 PMID:25741868 |
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NCBI chr12:52,514,575...52,520,394
Ensembl chr12:52,514,575...52,520,530
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G |
LOC126861525 |
BRD4-independent group 4 enhancer GRCh37_chr12:52909857-52911056 |
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IAGP |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Koebner type |
ClinVar |
PMID:20199538 PMID:25741868 |
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NCBI chr12:52,516,073...52,517,272
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G |
DST |
dystonin |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr 6:56,457,996...56,954,830
Ensembl chr 6:56,457,987...56,954,830
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G |
KRT14 |
keratin 14 |
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IAGP EXP |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
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 chr17:41,582,279...41,586,895
Ensembl chr17:41,582,279...41,586,895
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G |
KRT5 |
keratin 5 |
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IAGP |
ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX 1D, GENERALIZED, INTERMEDIATE OR SEVERE, AUTOSOMAL RECESSIVE |
ClinVar |
PMID:7520042 PMID:8807337 PMID:25741868 |
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NCBI chr12:52,514,575...52,520,394
Ensembl chr12:52,514,575...52,520,530
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G |
KRT5 |
keratin 5 |
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IAGP |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 2B, generalized intermediate |
OMIM ClinVar |
PMID:1718160 PMID:7534039 PMID:7686424 PMID:9740251 PMID:10354017 PMID:11407988 PMID:11407989 PMID:16439963 PMID:16882168 PMID:17039244 PMID:17549391 PMID:20301543 PMID:21375516 PMID:23746086 PMID:25017986 PMID:25741868 PMID:28492532 PMID:28561874 PMID:34680898 More...
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NCBI chr12:52,514,575...52,520,394
Ensembl chr12:52,514,575...52,520,530
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G |
LOC126861525 |
BRD4-independent group 4 enhancer GRCh37_chr12:52909857-52911056 |
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IAGP |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 2B, generalized intermediate |
ClinVar |
PMID:1718160 PMID:7686424 PMID:10354017 PMID:11407989 PMID:16439963 PMID:17039244 PMID:17549391 PMID:20301543 PMID:21375516 PMID:23746086 PMID:25017986 PMID:25741868 PMID:28492532 More...
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NCBI chr12:52,516,073...52,517,272
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G |
LOC126861526 |
BRD4-independent group 4 enhancer GRCh37_chr12:52912066-52913265 |
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IAGP |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 2B, generalized intermediate |
ClinVar |
PMID:11407988 PMID:16882168 PMID:25741868 |
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NCBI chr12:52,518,282...52,519,481
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G |
KRT5 |
keratin 5 |
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IAGP |
ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX 2D, GENERALIZED SEVERE, AUTOSOMAL RECESSIVE ClinVar Annotator: match by term: Epidermolysis bullosa simplex 2d, generalized, intermediate or severe, autosomal recessive |
OMIM ClinVar |
PMID:16465624 PMID:20199538 PMID:25741868 PMID:31302245 PMID:31312705 |
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NCBI chr12:52,514,575...52,520,394
Ensembl chr12:52,514,575...52,520,530
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G |
KLHL24 |
kelch like family member 24 |
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IAGP |
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 |
ClinVar OMIM |
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 chr 3:183,635,623...183,684,519
Ensembl chr 3:183,635,610...183,684,519
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G |
KRT14 |
keratin 14 |
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IAGP |
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 chr17:41,582,279...41,586,895
Ensembl chr17:41,582,279...41,586,895
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G |
KRT5 |
keratin 5 |
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IAGP |
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 chr12:52,514,575...52,520,394
Ensembl chr12:52,514,575...52,520,530
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G |
LOC126861525 |
BRD4-independent group 4 enhancer GRCh37_chr12:52909857-52911056 |
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IAGP |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 1A, generalized severe |
ClinVar |
PMID:9036937 PMID:10354017 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 chr12:52,516,073...52,517,272
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G |
LOC126861526 |
BRD4-independent group 4 enhancer GRCh37_chr12:52912066-52913265 |
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IAGP |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 1A, generalized severe |
ClinVar |
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NCBI chr12:52,518,282...52,519,481
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G |
KRT5 |
keratin 5 |
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IAGP |
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 chr12:52,514,575...52,520,394
Ensembl chr12:52,514,575...52,520,530
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G |
LOC126861525 |
BRD4-independent group 4 enhancer GRCh37_chr12:52909857-52911056 |
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IAGP |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 2A, generalized severe |
ClinVar |
PMID:1372711 PMID:9036937 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 chr12:52,516,073...52,517,272
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ATP2C1 |
ATPase secretory pathway Ca2+ transporting 1 |
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IAGP EXP |
ClinVar Annotator: match by term: Familial benign pemphigus ClinVar Annotator: match by term: ATP2C1-related condition | ClinVar Annotator: match by term: Familial benign pemphigus CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM |
PMID:3978039 PMID:10615129 PMID:10767338 PMID:11450592 PMID:11841554 PMID:11874499 PMID:15545997 PMID:16621454 PMID:20338123 PMID:21883398 PMID:25741868 PMID:28492532 More...
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NCBI chr 3:130,850,595...131,016,712
Ensembl chr 3:130,850,595...131,016,712
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G |
DSC3 |
desmocollin 3 |
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IAGP EXP |
ClinVar Annotator: match by term: Hypotrichosis and recurrent skin vesicles ClinVar Annotator: match by term: DSC3-related condition | ClinVar Annotator: match by term: Hypotrichosis and recurrent skin vesicles CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM |
PMID:16199547 PMID:18682494 PMID:19765682 PMID:25741868 PMID:28492532 PMID:31790667 More...
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NCBI chr18:30,989,365...31,042,742
Ensembl chr18:30,989,365...31,042,815
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G |
COL17A1 |
collagen type XVII alpha 1 chain |
susceptibility |
IAGP 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 chr10:104,031,286...104,085,880
Ensembl chr10:104,031,286...104,085,880
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GALK1 |
galactokinase 1 |
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IAGP |
ClinVar Annotator: match by term: Junctional epidermolysis bullosa |
ClinVar |
PMID:9792864 PMID:11886501 PMID:25741868 |
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NCBI chr17:75,751,469...75,765,192
Ensembl chr17:75,751,594...75,765,236
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G |
ITGA6 |
integrin subunit alpha 6 |
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IAGP |
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 2:172,427,336...172,506,459
Ensembl chr 2:172,234,216...172,506,459
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ITGB4 |
integrin subunit beta 4 |
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EXP IAGP |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Junctional epidermolysis bullosa |
CTD ClinVar |
PMID:7545057 PMID:9792864 PMID:11886501 PMID:25741868 |
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NCBI chr17:75,721,459...75,757,818
Ensembl chr17:75,721,328...75,757,818
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G |
LAMA3 |
laminin subunit alpha 3 |
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IAGP ISS EXP |
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 chr18:23,689,453...23,955,066
Ensembl chr18:23,689,453...23,956,222
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G |
LAMB3 |
laminin subunit beta 3 |
susceptibility |
IAGP EXP |
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 chr 1:209,614,870...209,652,425
Ensembl chr 1:209,614,870...209,652,425
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G |
LAMC2 |
laminin subunit gamma 2 |
susceptibility |
IAGP EXP |
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 chr 1:183,186,264...183,258,968
Ensembl chr 1:183,186,238...183,245,127
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G |
LOC126805948 |
MED14-independent group 3 enhancer GRCh37_chr1:183154769-183155968 |
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IAGP |
ClinVar Annotator: match by term: Junctional epidermolysis bullosa |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 1:183,185,549...183,186,833
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G |
LOC126805999 |
MED14-independent group 3 enhancer GRCh37_chr1:209825272-209826471 |
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IAGP |
ClinVar Annotator: match by term: Junctional epidermolysis bullosa |
ClinVar |
PMID:25741868 |
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NCBI chr 1:209,651,927...209,653,126
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G |
LOC126862707 |
MED14-independent group 3 enhancer GRCh37_chr18:21452354-21453553 |
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IAGP |
ClinVar Annotator: match by term: Junctional epidermolysis bullosa |
ClinVar |
PMID:10366601 PMID:11810295 PMID:12915477 PMID:16473856 PMID:17362460 PMID:22434185 PMID:23869449 PMID:27827380 PMID:28087116 PMID:28492532 More...
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NCBI chr18:23,872,390...23,873,589
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G |
COL17A1 |
collagen type XVII alpha 1 chain |
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IAGP |
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 chr10:104,031,286...104,085,880
Ensembl chr10:104,031,286...104,085,880
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G |
LAMA3 |
laminin subunit alpha 3 |
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IAGP |
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 chr18:23,689,453...23,955,066
Ensembl chr18:23,689,453...23,956,222
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G |
LAMB3 |
laminin subunit beta 3 |
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IAGP |
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 chr 1:209,614,870...209,652,425
Ensembl chr 1:209,614,870...209,652,425
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G |
LAMA3 |
laminin subunit alpha 3 |
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IAGP |
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 chr18:23,689,453...23,955,066
Ensembl chr18:23,689,453...23,956,222
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G |
LAMB3 |
laminin subunit beta 3 |
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IAGP |
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 chr 1:209,614,870...209,652,425
Ensembl chr 1:209,614,870...209,652,425
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G |
LAMC2 |
laminin subunit gamma 2 |
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IAGP |
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 chr 1:183,186,264...183,258,968
Ensembl chr 1:183,186,238...183,245,127
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G |
LAMA3 |
laminin subunit alpha 3 |
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IAGP |
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 chr18:23,689,453...23,955,066
Ensembl chr18:23,689,453...23,956,222
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G |
LOC126862707 |
MED14-independent group 3 enhancer GRCh37_chr18:21452354-21453553 |
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IAGP |
ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 2A, NON-HERLITZ TYPE |
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 chr18:23,872,390...23,873,589
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G |
LAMA3 |
laminin subunit alpha 3 |
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IAGP |
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 chr18:23,689,453...23,955,066
Ensembl chr18:23,689,453...23,956,222
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G |
LOC126862707 |
MED14-independent group 3 enhancer GRCh37_chr18:21452354-21453553 |
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IAGP |
ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 2B, HERLITZ TYPE |
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 chr18:23,872,390...23,873,589
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G |
LAMA3 |
laminin subunit alpha 3 |
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IAGP EXP |
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:17916201 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 chr18:23,689,453...23,955,066
Ensembl chr18:23,689,453...23,956,222
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G |
LOC126862707 |
MED14-independent group 3 enhancer GRCh37_chr18:21452354-21453553 |
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IAGP |
ClinVar Annotator: match by term: Laryngo-onycho-cutaneous syndrome |
ClinVar |
PMID:10366601 PMID:11810295 PMID:12915477 PMID:16473856 PMID:17362460 PMID:22434185 PMID:23869449 PMID:25741868 PMID:27827380 PMID:28087116 PMID:28492532 PMID:35314946 More...
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NCBI chr18:23,872,390...23,873,589
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G |
LAMC2 |
laminin subunit gamma 2 |
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IAGP |
ClinVar Annotator: match by term: Epidermolysis bullosa, junctional 3A, intermediate ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 3A, NON-HERLITZ TYPE | ClinVar Annotator: match by term: Epidermolysis bullosa, junctional 3A, intermediate ClinVar Annotator: match by term: LAMC2-related condition ClinVar Annotator: match by term: Epidermolysis bullosa, junctional 3A, intermediate | ClinVar Annotator: match by term: LAMC2-related condition |
OMIM ClinVar |
PMID:7849725 PMID:9536098 PMID:9856849 PMID:11564184 PMID:11810295 PMID:11907499 PMID:15373767 PMID:15538630 PMID:16199547 PMID:16473856 PMID:17576681 PMID:17916201 PMID:21198797 PMID:21801158 PMID:25741868 PMID:28492532 PMID:28830826 PMID:31395954 More...
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NCBI chr 1:183,186,264...183,258,968
Ensembl chr 1:183,186,238...183,245,127
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G |
LOC126805948 |
MED14-independent group 3 enhancer GRCh37_chr1:183154769-183155968 |
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IAGP |
ClinVar Annotator: match by term: Epidermolysis bullosa, junctional 3A, intermediate |
ClinVar |
PMID:25741868 |
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NCBI chr 1:183,185,549...183,186,833
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G |
LAMC2 |
laminin subunit gamma 2 |
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IAGP |
ClinVar Annotator: match by term: Epidermolysis bullosa, junctional 3B, severe ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 3B, HERLITZ TYPE | 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:11564184 PMID:11810295 PMID:11907499 PMID:15373767 PMID:16473856 PMID:17916201 PMID:20301304 PMID:25741868 PMID:28492532 More...
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NCBI chr 1:183,186,264...183,258,968
Ensembl chr 1:183,186,238...183,245,127
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G |
COL17A1 |
collagen type XVII alpha 1 chain |
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IAGP |
ClinVar Annotator: match by term: Epidermolysis bullosa, junctional 4, intermediate ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN | ClinVar Annotator: match by term: Epidermolysis bullosa, junctional 4, intermediate ClinVar Annotator: match by term: COL17A1-related condition 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 chr10:104,031,286...104,085,880
Ensembl chr10:104,031,286...104,085,880
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G |
GALK1 |
galactokinase 1 |
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IAGP |
ClinVar Annotator: match by term: Epidermolysis bullosa, junctional 5A, intermediate ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5A, NON-HERLITZ TYPE 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 chr17:75,751,469...75,765,192
Ensembl chr17:75,751,594...75,765,236
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G |
ITGB4 |
integrin subunit beta 4 |
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IAGP |
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 chr17:75,721,459...75,757,818
Ensembl chr17:75,721,328...75,757,818
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G |
ITGA3 |
integrin subunit alpha 3 |
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IAGP |
ClinVar Annotator: match by term: Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome | ClinVar Annotator: match by term: Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital ClinVar Annotator: match by term: ITGA3-related condition 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:24220332 PMID:25741868 PMID:25810266 PMID:26633545 PMID:28492532 PMID:29127259 More...
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NCBI chr17:50,056,110...50,090,481
Ensembl chr17:50,055,968...50,090,481
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G |
LOC126862584 |
P300/CBP strongly-dependent group 1 enhancer GRCh37_chr17:48141472-48142671 |
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IAGP |
ClinVar Annotator: match by term: Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome |
ClinVar |
PMID:22512483 PMID:25741868 PMID:28492532 |
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NCBI chr17:50,064,108...50,065,307
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G |
ITGA6 |
integrin subunit alpha 6 |
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ISS |
OMIM:226700 |
MouseDO |
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NCBI chr 2:172,427,336...172,506,459
Ensembl chr 2:172,234,216...172,506,459
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G |
LAMA3 |
laminin subunit alpha 3 |
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IAGP |
ClinVar Annotator: match by term: Junctional epidermolysis bullosa gravis of Herlitz ClinVar Annotator: match by term: Herlitz-Pearson type epidermolysis bullosa | ClinVar Annotator: match by term: Junctional epidermolysis bullosa gravis of Herlitz 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 chr18:23,689,453...23,955,066
Ensembl chr18:23,689,453...23,956,222
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G |
LAMB3 |
laminin subunit beta 3 |
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IAGP ISS |
ClinVar Annotator: match by term: Junctional epidermolysis bullosa gravis of Herlitz 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 OMIM:226700 |
ClinVar MouseDO |
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 chr 1:209,614,870...209,652,425
Ensembl chr 1:209,614,870...209,652,425
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G |
LAMC2 |
laminin subunit gamma 2 |
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IAGP ISS |
ClinVar Annotator: match by term: Junctional epidermolysis bullosa gravis of Herlitz ClinVar Annotator: match by term: Herlitz-Pearson type epidermolysis bullosa | ClinVar Annotator: match by term: Junctional epidermolysis bullosa gravis of Herlitz ClinVar Annotator: match by term: Herlitz-type junctional epidermolysis bullosa | ClinVar Annotator: match by term: Junctional epidermolysis bullosa gravis of Herlitz OMIM:226700 |
ClinVar MouseDO |
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 chr 1:183,186,264...183,258,968
Ensembl chr 1:183,186,238...183,245,127
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G |
LOC126805948 |
MED14-independent group 3 enhancer GRCh37_chr1:183154769-183155968 |
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IAGP |
ClinVar Annotator: match by term: Junctional epidermolysis bullosa gravis of Herlitz |
ClinVar |
PMID:25741868 |
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NCBI chr 1:183,185,549...183,186,833
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G |
LOC126805999 |
MED14-independent group 3 enhancer GRCh37_chr1:209825272-209826471 |
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IAGP |
ClinVar Annotator: match by term: Junctional epidermolysis bullosa gravis of Herlitz |
ClinVar |
PMID:25741868 |
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NCBI chr 1:209,651,927...209,653,126
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G |
LOC126862707 |
MED14-independent group 3 enhancer GRCh37_chr18:21452354-21453553 |
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IAGP |
ClinVar Annotator: match by term: Junctional epidermolysis bullosa gravis of Herlitz |
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 chr18:23,872,390...23,873,589
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G |
MIR4260 |
microRNA 4260 |
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IAGP |
ClinVar Annotator: match by term: Junctional epidermolysis bullosa gravis of Herlitz |
ClinVar |
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NCBI chr 1:209,623,444...209,623,510
Ensembl chr 1:209,623,444...209,623,510
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G |
SLC2A1 |
solute carrier family 2 member 1 |
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IAGP |
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 1:42,925,353...42,958,868
Ensembl chr 1:42,925,353...42,958,893
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G |
COL17A1 |
collagen type XVII alpha 1 chain |
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EXP IAGP 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 chr10:104,031,286...104,085,880
Ensembl chr10:104,031,286...104,085,880
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G |
GALK1 |
galactokinase 1 |
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IAGP |
ClinVar Annotator: match by term: Junctional epidermolysis bullosa, non-Herlitz type |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr17:75,751,469...75,765,192
Ensembl chr17:75,751,594...75,765,236
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G |
ITGB4 |
integrin subunit beta 4 |
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ISS IAGP |
OMIM:226650 ClinVar Annotator: match by term: Junctional epidermolysis bullosa, non-Herlitz type |
MouseDO ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr17:75,721,459...75,757,818
Ensembl chr17:75,721,328...75,757,818
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G |
LAMA3 |
laminin subunit alpha 3 |
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IAGP ISS |
ClinVar Annotator: match by term: Junctional epidermolysis bullosa, non-Herlitz type ClinVar Annotator: match by term: Epidermolysis bullosa junctionalis, disentis type | ClinVar Annotator: match by term: Junctional epidermolysis bullosa, non-Herlitz type OMIM:226650 |
ClinVar MouseDO |
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 chr18:23,689,453...23,955,066
Ensembl chr18:23,689,453...23,956,222
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G |
LAMB3 |
laminin subunit beta 3 |
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IAGP ISS EXP |
ClinVar Annotator: match by term: Junctional epidermolysis bullosa, non-Herlitz type ClinVar Annotator: match by term: Epidermolysis bullosa junctionalis, disentis 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 chr 1:209,614,870...209,652,425
Ensembl chr 1:209,614,870...209,652,425
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G |
LAMC2 |
laminin subunit gamma 2 |
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EXP IAGP ISS |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Junctional epidermolysis bullosa, non-Herlitz type OMIM:226650 |
CTD ClinVar MouseDO |
PMID:11564184 PMID:24550734 PMID:25741868 PMID:27375110 PMID:28492532 |
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NCBI chr 1:183,186,264...183,258,968
Ensembl chr 1:183,186,238...183,245,127
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G |
LOC126805948 |
MED14-independent group 3 enhancer GRCh37_chr1:183154769-183155968 |
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IAGP |
ClinVar Annotator: match by term: Junctional epidermolysis bullosa, non-Herlitz type |
ClinVar |
PMID:25741868 |
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NCBI chr 1:183,185,549...183,186,833
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G |
LOC126861025 |
CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:105813739-105814938 |
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IAGP |
ClinVar Annotator: match by term: Junctional epidermolysis bullosa, non-Herlitz type |
ClinVar |
PMID:28492532 |
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NCBI chr10:104,053,981...104,055,180
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G |
GALK1 |
galactokinase 1 |
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IAGP |
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 chr17:75,751,469...75,765,192
Ensembl chr17:75,751,594...75,765,236
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G |
ITGA6 |
integrin subunit alpha 6 |
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IAGP |
ClinVar Annotator: match by term: Junctional epidermolysis bullosa with pyloric atresia ClinVar Annotator: match by term: ITGA6-related condition | ClinVar Annotator: match by term: Junctional epidermolysis bullosa with pyloric atresia ClinVar Annotator: match by term: Epidermolysis bullosa, junctional 6, with pyloric atresia | ClinVar Annotator: match by term: Junctional epidermolysis bullosa with pyloric atresia ClinVar Annotator: match by term: Epidermolysis bullosa, junctional 6, with pyloric atresia | ClinVar Annotator: match by term: ITGA6-related condition | ClinVar Annotator: match by term: Junctional epidermolysis bullosa with pyloric atresia |
ClinVar OMIM |
PMID:9158140 PMID:9185503 PMID:9804362 PMID:14675179 PMID:23496044 PMID:25741868 PMID:27607025 PMID:28492532 More...
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NCBI chr 2:172,427,336...172,506,459
Ensembl chr 2:172,234,216...172,506,459
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ITGA6-AS1 |
ITGA6 and PDK1 antisense RNA 1 |
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IAGP |
ClinVar Annotator: match by term: Junctional epidermolysis bullosa with pyloric atresia ClinVar Annotator: match by term: Epidermolysis bullosa, junctional 6, with pyloric atresia ClinVar Annotator: match by term: ITGA6-related condition |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 2:172,464,262...172,466,022
Ensembl chr 2:172,464,259...172,556,596
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G |
ITGB4 |
integrin subunit beta 4 |
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IAGP ISS EXP |
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 OMIM:226730 CTD Direct Evidence: marker/mechanism |
ClinVar MouseDO CTD OMIM |
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:18779879 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 PMID:36413997 PMID:36458141 More...
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NCBI chr17:75,721,459...75,757,818
Ensembl chr17:75,721,328...75,757,818
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LOC130001338 |
ATAC-STARR-seq lymphoblastoid active region 28078 |
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IAGP |
ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5B, WITH PYLORIC ATRESIA |
ClinVar |
PMID:25741868 PMID:26467025 |
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NCBI chr 8:143,939,334...143,939,573
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MYO6 |
myosin VI |
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IAGP |
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 6:75,749,239...75,919,537
Ensembl chr 6:75,749,201...75,919,537
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G |
PDK1-AS1 |
PDK1 and ITGA6 antisense RNA 1 |
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IAGP |
ClinVar Annotator: match by term: Epidermolysis bullosa, junctional 6, with pyloric atresia ClinVar Annotator: match by term: Junctional epidermolysis bullosa with pyloric atresia ClinVar Annotator: match by term: Epidermolysis bullosa, junctional 6, with pyloric atresia | ClinVar Annotator: match by term: Junctional epidermolysis bullosa with pyloric atresia ClinVar Annotator: match by term: Epidermolysis bullosa, junctional 6, with pyloric atresia | ClinVar Annotator: match by term: ITGA6-related condition | ClinVar Annotator: match by term: Junctional epidermolysis bullosa with pyloric atresia |
ClinVar |
PMID:9158140 PMID:9185503 PMID:9804362 PMID:25741868 PMID:27607025 PMID:28492532 More...
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NCBI chr 2:172,480,732...172,556,464
Ensembl chr 2:172,464,259...172,556,596
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PLEC |
plectin |
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IAGP EXP |
ClinVar Annotator: match by term: Junctional epidermolysis bullosa with pyloric atresia ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5B, WITH PYLORIC ATRESIA | ClinVar Annotator: match by term: Junctional epidermolysis bullosa with pyloric atresia CTD Direct Evidence: marker/mechanism |
ClinVar CTD |
PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr 8:143,915,153...143,976,745
Ensembl chr 8:143,915,153...143,976,734
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G |
FERMT1 |
FERM domain containing kindlin 1 |
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IAGP ISS EXP |
ClinVar Annotator: match by term: Kindler syndrome ClinVar Annotator: match by term: FERMT1-related condition | ClinVar Annotator: match by term: Kindler syndrome OMIM:173650 CTD Direct Evidence: marker/mechanism |
ClinVar MouseDO CTD OMIM |
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 chr20:6,074,845...6,123,030
Ensembl chr20:6,074,845...6,123,214
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G |
LOC130065404 |
ATAC-STARR-seq lymphoblastoid silent region 12663 |
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IAGP |
ClinVar Annotator: match by term: Kindler syndrome |
ClinVar |
PMID:24635080 PMID:25741868 |
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NCBI chr20:6,122,916...6,123,035
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G |
GALK1 |
galactokinase 1 |
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IAGP |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 1C, localized |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr17:75,751,469...75,765,192
Ensembl chr17:75,751,594...75,765,236
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G |
ITGB4 |
integrin subunit beta 4 |
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IAGP |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 1C, localized |
ClinVar |
PMID:11328943 PMID:16473856 PMID:25741868 PMID:28492532 |
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NCBI chr17:75,721,459...75,757,818
Ensembl chr17:75,721,328...75,757,818
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KRT14 |
keratin 14 |
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IAGP |
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 chr17:41,582,279...41,586,895
Ensembl chr17:41,582,279...41,586,895
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G |
KRT5 |
keratin 5 |
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IAGP |
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 chr12:52,514,575...52,520,394
Ensembl chr12:52,514,575...52,520,530
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G |
LOC126861525 |
BRD4-independent group 4 enhancer GRCh37_chr12:52909857-52911056 |
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IAGP |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 1C, localized |
ClinVar |
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 chr12:52,516,073...52,517,272
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G |
KRT5 |
keratin 5 |
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IAGP |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 2C, localized ClinVar Annotator: match by term: Epidermolysis bullosa simplex 2C, localized, modifier of ClinVar Annotator: match by term: Epidermolysis bullosa simplex 2C, Weber-Cockayne type |
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 chr12:52,514,575...52,520,394
Ensembl chr12:52,514,575...52,520,530
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G |
LOC126861525 |
BRD4-independent group 4 enhancer GRCh37_chr12:52909857-52911056 |
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IAGP |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 2C, localized, modifier of |
ClinVar |
PMID:11973334 |
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NCBI chr12:52,516,073...52,517,272
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LOC126861526 |
BRD4-independent group 4 enhancer GRCh37_chr12:52912066-52913265 |
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IAGP |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 2C, localized |
ClinVar |
PMID:8807337 PMID:25741868 |
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NCBI chr12:52,518,282...52,519,481
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G |
C3 |
complement C3 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:74171 |
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NCBI chr19:6,677,704...6,720,650
Ensembl chr19:6,677,704...6,730,562
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G |
CAST |
calpastatin |
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IDA |
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RGD |
PMID:16314468 |
RGD:5509814 |
NCBI chr 5:95,961,429...96,774,683
Ensembl chr 5:96,247,756...96,779,595 Ensembl chr 5:96,247,756...96,779,595
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G |
CAT |
catalase |
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IEP |
protein:increased activities:skin: |
RGD |
PMID:22738420 |
RGD:9479165 |
NCBI chr11:34,438,934...34,472,060
Ensembl chr11:34,438,934...34,472,060
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G |
CD36 |
CD36 molecule (CD36 blood group) |
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IDA |
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RGD |
PMID:21255096 |
RGD:5490304 |
NCBI chr 7:80,602,207...80,679,274
Ensembl chr 7:80,369,575...80,679,277
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G |
CD40 |
CD40 molecule |
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IDA |
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RGD |
PMID:21255096 |
RGD:5490304 |
NCBI chr20:46,118,314...46,129,858
Ensembl chr20:46,118,271...46,129,863
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G |
CD40LG |
CD40 ligand |
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IEP |
mRNA, protein:increased expression:skin, serum |
RGD |
PMID:17531537 |
RGD:8547773 |
NCBI chr X:136,648,158...136,660,390
Ensembl chr X:136,648,158...136,660,390
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G |
HLA-DQA1 |
major histocompatibility complex, class II, DQ alpha 1 |
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IAGP |
DNA:polymorphisms:cds:HLA-DQA1*0104, HLA-DQA1*03011 (human) |
RGD |
PMID:18780165 |
RGD:5147619 |
NCBI chr 6:32,637,406...32,655,272
Ensembl chr 6:32,628,179...32,647,062
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G |
HLA-DQB1 |
major histocompatibility complex, class II, DQ beta 1 |
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IAGP |
DNA:polymorphisms:cds:HLA-DQB1*0302, HLA-DQB1*0502 (human) |
RGD |
PMID:18780165 |
RGD:5147619 |
NCBI chr 6:32,659,467...32,666,657
Ensembl chr 6:32,659,467...32,668,383
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G |
HLA-DRB1 |
major histocompatibility complex, class II, DR beta 1 |
susceptibility |
IAGP |
DNA:polymorphisms (human) DNA:polymorphism:cds:HLA-DRB1*0403, *0406, *1401, *1405, *1406 (human) |
RGD |
PMID:18780165 PMID:9347787 |
RGD:5147619, RGD:40818304 |
NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848
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G |
IL2 |
interleukin 2 |
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IDA |
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RGD |
PMID:6432916 |
RGD:8693324 |
NCBI chr 4:122,451,470...122,456,725
Ensembl chr 4:122,451,470...122,456,725
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G |
MBL2 |
mannose binding lectin 2 |
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IEP |
protein:increased expression:skin: |
RGD |
PMID:21327568 |
RGD:8693728 |
NCBI chr10:52,765,380...52,772,784
Ensembl chr10:52,765,380...52,772,784
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G |
DSG3 |
desmoglein 3 |
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ISS |
OMIM:169610 |
MouseDO |
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NCBI chr18:31,447,741...31,478,702
Ensembl chr18:31,447,741...31,478,702
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G |
HLA-DQB1 |
major histocompatibility complex, class II, DQ beta 1 |
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IAGP |
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RGD |
PMID:28197992 |
RGD:14747041 |
NCBI chr 6:32,659,467...32,666,657
Ensembl chr 6:32,659,467...32,668,383
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G |
COL7A1 |
collagen type VII alpha 1 chain |
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IAGP EXP |
ClinVar Annotator: match by term: Pretibial dystrophic epidermolysis bullosa ClinVar Annotator: match by term: Pretibial epidermolysis bullosa ClinVar Annotator: match by term: Pretibial dystrophic epidermolysis bullosa | ClinVar Annotator: match by term: Pretibial epidermolysis bullosa ClinVar Annotator: match by term: Epidermolysis bullosa, pretibial, autosomal recessive CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM |
PMID:7695699 PMID:7833933 PMID:7861014 PMID:8088783 PMID:8218237 PMID:8541842 PMID:8618004 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:12653705 PMID:12787275 PMID:12813757 PMID:15816848 PMID:15888141 PMID:16189623 PMID:16199547 PMID:16271705 PMID:16484981 PMID:16500083 PMID:16965329 PMID:16971478 PMID:17425959 PMID:17495952 PMID:17576681 PMID:17916216 PMID:18429782 PMID:18440202 PMID:18565177 PMID:18951764 PMID:19197535 PMID:19344236 PMID:19439919 PMID:19665875 PMID:19681861 PMID:19694005 PMID:20184583 PMID:20357813 PMID:20598510 PMID:20920254 PMID:21448560 PMID:21471992 PMID:22058051 PMID:22209565 PMID:22266148 PMID:23237810 PMID:23786535 PMID:23947675 PMID:24032424 PMID:24033266 PMID:24210835 PMID:24213372 PMID:24252097 PMID:24317394 PMID:24599399 PMID:24794830 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:26763448 PMID:26864810 PMID:27153395 PMID:27544590 PMID:27899325 PMID:28492532 PMID:28830826 PMID:29364557 PMID:29427316 PMID:29473190 PMID:29500833 PMID:30280950 PMID:31001817 PMID:31670143 PMID:31786163 PMID:31930626 PMID:32383240 PMID:32484238 PMID:32506467 PMID:32860008 PMID:33274474 PMID:33587123 PMID:33969388 PMID:34230977 PMID:34435747 PMID:35979658 PMID:36287101 More...
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NCBI chr 3:48,564,073...48,595,329
Ensembl chr 3:48,564,073...48,595,329
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G |
COL7A1 |
collagen type VII alpha 1 chain |
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IAGP ISS |
ClinVar Annotator: match by term: Recessive dystrophic epidermolysis bullosa ClinVar Annotator: match by term: Epidermolysis bullosa dystrophica inversa, autosomal recessive ClinVar Annotator: match by term: Epidermolysis bullosa dystrophica inversa, autosomal recessive | ClinVar Annotator: match by term: Recessive dystrophic epidermolysis bullosa OMIM:226600 |
ClinVar MouseDO |
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:16500083 PMID:16871478 PMID:16965329 PMID:16965439 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:20585476 PMID:20598510 PMID:20920254 PMID:21113014 PMID:21124339 PMID:21182502 PMID:21196708 PMID:21269315 PMID:21382783 PMID:21448560 PMID:21471992 PMID:22058051 PMID:22209565 PMID:22266148 PMID:22352907 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:29427316 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:32978145 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 3:48,564,073...48,595,329
Ensembl chr 3:48,564,073...48,595,329
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GRIP1 |
glutamate receptor interacting protein 1 |
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ISS |
OMIM:226600 |
MouseDO |
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NCBI chr12:66,347,431...67,069,338
Ensembl chr12:66,347,431...67,069,162
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G |
MIR711 |
microRNA 711 |
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IAGP |
ClinVar Annotator: match by term: Epidermolysis bullosa dystrophica inversa, autosomal recessive |
ClinVar |
PMID:28492532 |
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NCBI chr 3:48,578,902...48,578,977
Ensembl chr 3:48,578,902...48,578,977
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MMP1 |
matrix metallopeptidase 1 |
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IAGP |
ClinVar Annotator: match by term: Recessive dystrophic epidermolysis bullosa |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr11:102,789,919...102,798,160
Ensembl chr11:102,789,401...102,798,160
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ALB |
albumin |
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EXP |
CTD Direct Evidence: therapeutic |
CTD |
PMID:12239465 |
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NCBI chr 4:73,404,287...73,421,482
Ensembl chr 4:73,397,114...73,421,482
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G |
APCS |
amyloid P component, serum |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:34142820 |
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NCBI chr 1:159,587,826...159,588,865
Ensembl chr 1:159,587,826...159,588,865
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G |
C1QA |
complement C1q A chain |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:34142820 |
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NCBI chr 1:22,636,463...22,639,678
Ensembl chr 1:22,635,077...22,639,678
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G |
C1QC |
complement C1q C chain |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:34142820 |
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NCBI chr 1:22,643,633...22,648,108
Ensembl chr 1:22,643,014...22,648,110
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G |
CAV1 |
caveolin 1 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25811541 |
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NCBI chr 7:116,525,009...116,561,185
Ensembl chr 7:116,524,994...116,561,179
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G |
CELF2 |
CUGBP Elav-like family member 2 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25811541 |
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NCBI chr10:10,462,550...11,336,675
Ensembl chr10:10,798,397...11,336,675
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G |
CFHR1 |
complement factor H related 1 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:34142820 |
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NCBI chr 1:196,819,731...196,832,189
Ensembl chr 1:196,819,731...196,837,159
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CFP |
complement factor properdin |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:34142820 |
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NCBI chr X:47,623,282...47,630,305
Ensembl chr X:47,623,172...47,630,305
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G |
CLU |
clusterin |
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IEP |
mRNA:decreased expression:conjunctiva |
RGD |
PMID:12036968 |
RGD:8699507 |
NCBI chr 8:27,596,917...27,614,700
Ensembl chr 8:27,596,917...27,614,700
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G |
COPS5 |
COP9 signalosome subunit 5 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25811541 |
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NCBI chr 8:67,043,079...67,062,133
Ensembl chr 8:67,043,079...67,083,783
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G |
CRP |
C-reactive protein |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:34142820 |
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NCBI chr 1:159,712,289...159,714,589
Ensembl chr 1:159,712,289...159,714,589
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CSF3 |
colony stimulating factor 3 |
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EXP |
CTD Direct Evidence: therapeutic |
CTD |
PMID:11321886 |
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NCBI chr17:40,015,440...40,017,813
Ensembl chr17:40,015,361...40,017,813
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G |
CTNNB1 |
catenin beta 1 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25811541 |
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NCBI chr 3:41,199,505...41,240,443
Ensembl chr 3:41,194,741...41,260,096
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G |
CUL1 |
cullin 1 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25811541 |
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NCBI chr 7:148,697,756...148,801,110
Ensembl chr 7:148,697,914...148,801,110
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CUL4A |
cullin 4A |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25811541 |
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NCBI chr13:113,208,193...113,267,108
Ensembl chr13:113,208,193...113,267,108
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DERL1 |
derlin 1 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25811541 |
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NCBI chr 8:123,013,170...123,042,302
Ensembl chr 8:123,013,170...123,042,302
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ELMO1 |
engulfment and cell motility 1 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25811541 |
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NCBI chr 7:36,852,906...37,449,326
Ensembl chr 7:36,852,906...37,449,223
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EP300 |
E1A binding protein p300 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25811541 |
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NCBI chr22:41,092,592...41,180,077
Ensembl chr22:41,092,510...41,180,077
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G |
FBXO6 |
F-box protein 6 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25811541 |
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NCBI chr 1:11,664,200...11,674,354
Ensembl chr 1:11,664,200...11,674,354
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GSTM1 |
glutathione S-transferase mu 1 |
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IAGP |
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RGD |
PMID:28689274 |
RGD:14700974 |
NCBI chr 1:109,687,817...109,693,745
Ensembl chr 1:109,687,814...109,709,039
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HLA-A |
major histocompatibility complex, class I, A |
susceptibility |
IAGP EXP |
ClinVar Annotator: match by term: Hypersensitivity syndrome, carbamazepine-induced, susceptibility to CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM |
PMID:16538176 PMID:21428769 PMID:23588310 |
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NCBI chr 6:29,942,532...29,945,870
Ensembl chr 6:29,941,260...29,949,572
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HLA-B |
major histocompatibility complex, class I, B |
susceptibility |
IAGP EXP |
DNA:polymorphism:cds:HLA-B*5801 (human, Japanese) CTD Direct Evidence: marker/mechanism DNA:polymorphisms:cds:HLA-B*15:02, HLA-B*40:01, HLA-B*58:02 (human) |
CTD RGD |
PMID:15057820 PMID:15743917 PMID:16538176 PMID:18855540 PMID:19694795 PMID:19915237 PMID:20235791 PMID:20485159 PMID:21428768 PMID:25099164 PMID:19018717 PMID:23692434 More...
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RGD:7364874, RGD:7365090 |
NCBI chr 6:31,353,875...31,357,179
Ensembl chr 6:31,353,872...31,367,067
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HLA-C |
major histocompatibility complex, class I, C |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19629158 |
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NCBI chr 6:31,268,749...31,272,092
Ensembl chr 6:31,268,749...31,272,130
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HLA-DQB1 |
major histocompatibility complex, class II, DQ beta 1 |
susceptibility |
IAGP |
DNA:polymorphism:cds:HLA-DQB1*0601 (human) |
RGD |
PMID:8841298 |
RGD:7483570 |
NCBI chr 6:32,659,467...32,666,657
Ensembl chr 6:32,659,467...32,668,383
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IFNA2 |
interferon alpha 2 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25811541 |
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NCBI chr 9:21,384,255...21,385,398
Ensembl chr 9:21,384,255...21,385,398
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IFNG |
interferon gamma |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25811541 |
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NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740
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G |
LBP |
lipopolysaccharide binding protein |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:34142820 |
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NCBI chr20:38,346,482...38,377,013
Ensembl chr20:38,346,482...38,377,013
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G |
LRG1 |
leucine rich alpha-2-glycoprotein 1 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:34142820 |
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NCBI chr19:4,536,402...4,540,036
Ensembl chr19:4,536,402...4,540,036
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G |
MIF |
macrophage migration inhibitory factor |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9372356 |
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NCBI chr22:23,894,383...23,895,223
Ensembl chr22:23,894,383...23,895,227
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G |
MIR18A |
microRNA 18a |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:34142820 |
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NCBI chr13:91,350,751...91,350,821
Ensembl chr13:91,350,751...91,350,821
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G |
NEDD4 |
NEDD4 E3 ubiquitin protein ligase |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25811541 |
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NCBI chr15:55,826,917...55,993,612
Ensembl chr15:55,826,922...55,993,660
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NFKBIZ |
NFKB inhibitor zeta |
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ISS |
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MouseDO |
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NCBI chr 3:101,827,990...101,861,022
Ensembl chr 3:101,827,991...101,861,022
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NOS2 |
nitric oxide synthase 2 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10620138 |
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NCBI chr17:27,756,766...27,800,529
Ensembl chr17:27,756,766...27,800,529
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G |
NUCB1 |
nucleobindin 1 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25811541 |
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NCBI chr19:48,900,312...48,923,372
Ensembl chr19:48,900,050...48,923,473
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G |
ORM1 |
orosomucoid 1 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:34142820 |
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NCBI chr 9:114,323,098...114,326,479
Ensembl chr 9:114,323,098...114,326,479
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G |
ORM2 |
orosomucoid 2 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:34142820 |
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NCBI chr 9:114,329,869...114,333,251
Ensembl chr 9:114,329,869...114,333,251
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G |
PARP1 |
poly(ADP-ribose) polymerase 1 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25811541 |
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NCBI chr 1:226,360,691...226,408,093
Ensembl chr 1:226,360,210...226,408,154
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PML |
PML nuclear body scaffold |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25811541 |
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NCBI chr15:73,994,716...74,047,827
Ensembl chr15:73,994,673...74,047,827
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PROS1 |
protein S |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:34142820 |
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NCBI chr 3:93,873,051...93,973,896
Ensembl chr 3:93,873,051...93,980,003
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G |
PSMC5 |
proteasome 26S subunit, ATPase 5 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25811541 |
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NCBI chr17:63,827,431...63,832,019
Ensembl chr17:63,827,152...63,832,026
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G |
PTGER3 |
prostaglandin E receptor 3 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21966456 |
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NCBI chr 1:70,852,358...71,047,816
Ensembl chr 1:70,852,353...71,047,816
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PTGIS |
prostaglandin I2 synthase |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25811541 |
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NCBI chr20:49,503,874...49,568,137
Ensembl chr20:49,503,874...49,568,137
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G |
RB1 |
RB transcriptional corepressor 1 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25811541 |
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NCBI chr13:48,303,751...48,481,890
Ensembl chr13:48,303,744...48,599,436
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G |
RBX1 |
ring-box 1 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25811541 |
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NCBI chr22:40,951,378...40,973,309
Ensembl chr22:40,951,347...40,973,309
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G |
TNF |
tumor necrosis factor |
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IEP |
protein:increased expression:blister: |
RGD |
PMID:9852250 |
RGD:7401184 |
NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
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G |
VCP |
valosin containing protein |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25811541 |
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NCBI chr 9:35,056,064...35,072,625
Ensembl chr 9:35,053,928...35,072,668
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G |
VWF |
von Willebrand factor |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:34142820 |
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NCBI chr12:5,948,877...6,124,670
Ensembl chr12:5,948,877...6,124,770
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COL7A1 |
collagen type VII alpha 1 chain |
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IAGP EXP |
ClinVar Annotator: match by term: Transient bullous dermolysis of the newborn ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA DYSTROPHICA, NEONATAL FORM ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA DYSTROPHICA, NEONATAL FORM | ClinVar Annotator: match by term: Transient bullous dermolysis of the newborn ClinVar Annotator: match by term: Epidermolysis bullosa dystrophica, dominant neonatal form CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM |
PMID:2653224 PMID:7695699 PMID:7833933 PMID:8088783 PMID:8218237 PMID:8618004 PMID:8644730 PMID:8755915 PMID:8900535 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:10944088 PMID:11781296 PMID:12207583 PMID:12485454 PMID:12653705 PMID:12787275 PMID:12813757 PMID:15816848 PMID:15888141 PMID:16189623 PMID:16199547 PMID:16225626 PMID:16271705 PMID:16484981 PMID:16500083 PMID:16965329 PMID:16971478 PMID:17425959 PMID:17434045 PMID:17495952 PMID:17501948 PMID:17576681 PMID:17916216 PMID:18429782 PMID:18440202 PMID:18565177 PMID:18951764 PMID:19344236 PMID:19439919 PMID:19665875 PMID:19681861 PMID:19694005 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:24213372 PMID:24252097 PMID:24317394 PMID:24533879 PMID:24599399 PMID:24947307 PMID:25155989 PMID:25201089 PMID:25525159 PMID:25741868 PMID:26076072 PMID:26102279 PMID:26143532 PMID:26148662 PMID:26446410 PMID:26467025 PMID:26707537 PMID:26763448 PMID:26864810 PMID:27153395 PMID:27544590 PMID:27899325 PMID:28492532 PMID:28830826 PMID:29364557 PMID:29427316 PMID:29473190 PMID:29500833 PMID:30280950 PMID:31001817 PMID:31670143 PMID:31786163 PMID:31930626 PMID:32383240 PMID:32484238 PMID:32506467 PMID:32860008 PMID:33274474 PMID:33587123 PMID:33969388 PMID:34230977 PMID:34435747 PMID:35979658 PMID:36287101 More...
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NCBI chr 3:48,564,073...48,595,329
Ensembl chr 3:48,564,073...48,595,329
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G |
FERMT1 |
FERM domain containing kindlin 1 |
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IAGP |
Kindler syndrome, OMIM:173650 DNA:point_mutation:CDS:C787T, amino acid Q263X |
RGD |
PMID:12668616 |
RGD:1600405 |
NCBI chr20:6,074,845...6,123,030
Ensembl chr20:6,074,845...6,123,214
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