RGD DISEASE ONTOLOGY - ANNOTATIONS |
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RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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Adrb2 |
adrenoceptor beta 2 |
susceptibility |
ISO |
DNA:polymorphism:cds:p.Q27E(human) |
RGD |
PMID:16955193 |
RGD:8548494 |
NCBI chr18:55,642,459...55,644,501
Ensembl chr18:55,502,903...55,644,512
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Asip |
agouti signaling protein |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:32937126 |
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NCBI chr 3:143,473,584...143,561,170
Ensembl chr 3:143,555,696...143,561,171
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Clock |
clock circadian regulator |
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ISO |
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RGD |
PMID:21149897 |
RGD:10401871 |
NCBI chr14:31,908,542...31,992,673
Ensembl chr14:31,908,566...31,990,400
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Csk |
C-terminal Src kinase |
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ISO |
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RGD |
PMID:14975240 |
RGD:5134363 |
NCBI chr 8:58,029,748...58,048,742
Ensembl chr 8:58,029,749...58,048,292
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Cxcl12 |
C-X-C motif chemokine ligand 12 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27206134 |
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NCBI chr 4:150,388,326...150,401,173
Ensembl chr 4:150,388,325...150,401,168
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Dsg1 |
desmoglein 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23974871 |
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NCBI chr18:11,674,687...11,705,383
Ensembl chr18:11,674,402...11,703,443
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Egf |
epidermal growth factor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27206134 |
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NCBI chr 2:218,219,408...218,302,370
Ensembl chr 2:218,219,415...218,302,064
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Egfr |
epidermal growth factor receptor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27206134 |
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NCBI chr14:91,176,931...91,349,722
Ensembl chr14:91,177,067...91,344,382
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Fgf2 |
fibroblast growth factor 2 |
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ISO |
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RGD |
PMID:16507899 |
RGD:8554852 |
NCBI chr 2:120,236,328...120,290,673
Ensembl chr 2:120,236,328...120,291,221
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Flg |
filaggrin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:31330126 |
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NCBI chr 2:178,888,688...178,912,731
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Foxp3 |
forkhead box P3 |
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ISO |
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RGD |
PMID:22466646 |
RGD:38549359 |
NCBI chr X:14,908,494...14,924,994
Ensembl chr X:14,908,494...14,923,838
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Hcn2 |
hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2 |
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IEP |
protein:increased expression:dorsal root ganglion: |
RGD |
PMID:23236374 |
RGD:9686396 |
NCBI chr 7:9,969,801...9,988,839
Ensembl chr 7:9,970,368...9,988,841
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Icam1 |
intercellular adhesion molecule 1 |
treatment |
ISO |
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RGD |
PMID:9366707 |
RGD:8547708 |
NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
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Ikbkb |
inhibitor of nuclear factor kappa B kinase subunit beta |
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ISO |
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RGD |
PMID:12075355 PMID:20200541 |
RGD:7495756, RGD:7495759 |
NCBI chr16:69,319,487...69,373,251
Ensembl chr16:69,319,554...69,373,250
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Il13 |
interleukin 13 |
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ISO |
DNA:SNP:promoter:rs20541 (human) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:31330126 PMID:23171465 |
RGD:8549505 |
NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737
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Il18 |
interleukin 18 |
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ISO |
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RGD |
PMID:12925208 |
RGD:8655896 |
NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
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Il4 |
interleukin 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:31330126 |
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NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
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Itgb2 |
integrin subunit beta 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9653089 |
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NCBI chr20:11,061,394...11,097,656
Ensembl chr20:11,061,430...11,097,600
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Nlrp3 |
NLR family, pyrin domain containing 3 |
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ISO |
ClinVar Annotator: match by term: Dermatitis |
ClinVar |
PMID:25741868 |
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NCBI chr10:44,326,770...44,353,814
Ensembl chr10:44,328,566...44,352,811
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Nod2 |
nucleotide-binding oligomerization domain containing 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19467619 |
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NCBI chr19:18,379,720...18,422,817
Ensembl chr19:18,382,439...18,417,177
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Parp1 |
poly (ADP-ribose) polymerase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20561897 |
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NCBI chr13:92,307,593...92,339,406
Ensembl chr13:92,307,586...92,339,404
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Pla2g4a |
phospholipase A2 group IVA |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18287786 |
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NCBI chr13:61,877,818...62,022,261
Ensembl chr13:61,877,813...62,022,266
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Ripk3 |
receptor-interacting serine-threonine kinase 3 |
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ISO |
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RGD |
PMID:22000287 |
RGD:7777169 |
NCBI chr15:29,283,153...29,292,107
Ensembl chr15:29,283,145...29,292,121
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RT1-Ba |
RT1 class II, locus Ba |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16836882 |
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NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
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RT1-CE13 |
RT1 class I, locus CE13 |
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ISO |
human gene in rat model; DNA:polymorphisms:cds:HLA-B*2705 (human) |
RGD |
PMID:7573371 |
RGD:7387278 |
NCBI chr20:3,314,984...3,318,037
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Sharpin |
SHANK-associated RH domain interactor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19650867 |
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NCBI chr 7:108,070,681...108,075,012
Ensembl chr 7:108,070,687...108,074,955
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Syk |
spleen associated tyrosine kinase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:33782605 |
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NCBI chr17:12,604,615...12,678,437
Ensembl chr17:12,604,619...12,661,410
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Tnf |
tumor necrosis factor |
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ISO |
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RGD |
PMID:3171214 |
RGD:7394823 |
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Trpv3 |
transient receptor potential cation channel, subfamily V, member 3 |
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IAGP |
DNA:missense mutation:cds:G1717T (rat) |
RGD |
PMID:16858425 |
RGD:150520053 |
NCBI chr10:57,883,546...57,915,865
Ensembl chr10:57,883,546...57,913,296
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Vcam1 |
vascular cell adhesion molecule 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27206134 |
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NCBI chr 2:204,038,120...204,057,852
Ensembl chr 2:204,038,114...204,057,958
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Zfp36 |
zinc finger protein 36 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15944294 |
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NCBI chr 1:83,669,084...83,671,564
Ensembl chr 1:83,669,084...83,671,564
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Ccl20 |
C-C motif chemokine ligand 20 |
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ISO |
mRNA:decreased expression:skin |
RGD |
PMID:17606602 |
RGD:7483609 |
NCBI chr 9:84,389,031...84,391,629
Ensembl chr 9:84,388,904...84,391,629
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Itpr3 |
inositol 1,4,5-trisphosphate receptor, type 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27258892 |
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NCBI chr20:5,136,968...5,202,339
Ensembl chr20:5,136,441...5,202,337
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Mkln1 |
muskelin 1 |
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ISO |
Acrodermatitis, lethal |
OMIA |
PMID:2402865 PMID:3710872 PMID:8981276 PMID:9256960 PMID:10563006 PMID:11105789 PMID:11440398 PMID:14592736 PMID:17693109 PMID:29565995 More...
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NCBI chr 4:59,815,912...60,124,047
Ensembl chr 4:60,002,464...60,123,993
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Psmb9 |
proteasome 20S subunit beta 9 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27258892 |
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NCBI chr20:4,667,044...4,672,512
Ensembl chr20:4,666,046...4,672,512
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Slc39a4 |
solute carrier family 39 member 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16714095 PMID:16819703 PMID:16889938 PMID:17190629 PMID:17202136 |
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NCBI chr 7:108,333,380...108,337,553
Ensembl chr 7:108,333,381...108,337,553
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Slc39a4 |
solute carrier family 39 member 4 |
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ISO |
DNA:deletions, snp, missense mutations:multiple (human) ClinVar Annotator: match by term: Hereditary acrodermatitis enteropathica CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM RGD |
PMID:11035780 PMID:11254458 PMID:12032886 PMID:12068297 PMID:12787121 PMID:12955721 PMID:14709598 PMID:15358787 PMID:16199547 PMID:17483098 PMID:19370757 PMID:20981092 PMID:21762381 PMID:24033266 PMID:25741868 PMID:28492532 PMID:12068297 More...
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RGD:1599005 |
NCBI chr 7:108,333,380...108,337,553
Ensembl chr 7:108,333,381...108,337,553
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RT1-Db1 |
RT1 class II, locus Db1 |
susceptibility |
ISO |
DNA:Polymorphism: :HLA-DRB1*14(human) |
RGD |
PMID:11369906 |
RGD:7365088 |
NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
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Abca6 |
ATP binding cassette subfamily A member 6 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17374397 |
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NCBI chr10:95,142,805...95,212,087
Ensembl chr10:95,142,966...95,211,530
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Asrgl1 |
asparaginase and isoaspartyl peptidase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16033404 |
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NCBI chr 1:206,006,103...206,027,115
Ensembl chr 1:206,006,109...206,027,108
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Bcl2 |
BCL2, apoptosis regulator |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16033404 |
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NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743 Ensembl chr13:22,684,989...22,853,743
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Bmp6 |
bone morphogenetic protein 6 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17374397 |
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NCBI chr17:26,318,121...26,469,034
Ensembl chr17:26,318,569...26,470,365
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Calcrl |
calcitonin receptor like receptor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17374397 |
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NCBI chr 3:69,428,348...69,525,910
Ensembl chr 3:69,430,120...69,525,910
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Casp8 |
caspase 8 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16033404 |
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NCBI chr 9:60,263,863...60,312,542
Ensembl chr 9:60,264,075...60,312,542
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Ccl17 |
C-C motif chemokine ligand 17 |
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ISO |
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RGD |
PMID:15491423 |
RGD:1626251 |
NCBI chr19:10,202,317...10,203,768
Ensembl chr19:10,202,128...10,203,819
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Ccl19 |
C-C motif chemokine ligand 19 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17597826 |
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NCBI chr 5:56,963,364...56,965,308
Ensembl chr 5:56,963,364...56,965,308
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Ccl5 |
C-C motif chemokine ligand 5 |
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ISO |
protein:increased expression:ear (mouse) |
RGD |
PMID:15491423 |
RGD:1626251 |
NCBI chr10:68,322,826...68,327,365
Ensembl chr10:68,322,829...68,327,377
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Ccr1 |
C-C motif chemokine receptor 1 |
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ISO |
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RGD |
PMID:18844696 |
RGD:5688176 |
NCBI chr 8:123,556,286...123,561,841
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Ccr2 |
C-C motif chemokine receptor 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:17374397 PMID:10899907 |
RGD:8661227 |
NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100
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Ccr3 |
C-C motif chemokine receptor 3 |
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ISO |
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RGD |
PMID:22075493 |
RGD:6892916 |
NCBI chr 8:123,586,100...123,634,178
Ensembl chr 8:123,616,236...123,634,990
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Ccr5 |
C-C motif chemokine receptor 5 |
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IEP |
mRNA:increased expression:skin, lymph node (rat) |
RGD |
PMID:16977379 |
RGD:2325935 |
NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
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Cd36 |
CD36 molecule |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17374397 |
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NCBI chr 4:17,317,343...17,410,084
Ensembl chr 4:17,354,466...17,513,903
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Cd3d |
CD3 delta subunit of T-cell receptor complex |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17597826 |
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NCBI chr 8:45,287,803...45,293,342
Ensembl chr 8:45,288,749...45,301,809
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Cidec |
cell death-inducing DFFA-like effector c |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17374397 |
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NCBI chr 4:146,569,288...146,582,173
Ensembl chr 4:146,569,289...146,582,173
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Cish |
cytokine inducible SH2-containing protein |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16033404 |
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NCBI chr 8:107,972,306...107,977,254
Ensembl chr 8:107,972,306...107,977,250
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Cntn3 |
contactin 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17597826 |
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NCBI chr 4:134,841,268...135,214,460
Ensembl chr 4:134,842,266...135,125,613
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Crem |
cAMP responsive element modulator |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17374397 |
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NCBI chr17:54,238,889...54,305,989
Ensembl chr17:54,239,030...54,305,989
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Ctsc |
cathepsin C |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17374397 |
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NCBI chr 1:142,028,386...142,059,841
Ensembl chr 1:142,028,392...142,060,387
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Cxcl2 |
C-X-C motif chemokine ligand 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23178550 |
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NCBI chr14:17,181,030...17,183,075
Ensembl chr14:17,181,062...17,183,075
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Cyp1a1 |
cytochrome P450, family 1, subfamily a, polypeptide 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11312644 PMID:19022366 |
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NCBI chr 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125
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Emb |
embigin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17374397 |
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NCBI chr 2:49,070,509...49,125,042
Ensembl chr 2:49,069,087...49,125,050
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Ets2 |
ETS proto-oncogene 2, transcription factor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16033404 |
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NCBI chr11:35,021,536...35,038,322
Ensembl chr11:35,021,596...35,038,319
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F13a1 |
coagulation factor XIII A1 chain |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17374397 |
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NCBI chr17:27,815,723...27,992,494
Ensembl chr17:27,815,702...27,992,700
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Fgl2 |
fibrinogen-like 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17374397 |
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NCBI chr 4:13,710,566...13,716,207
Ensembl chr 4:13,710,575...13,716,207
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Flt1 |
Fms related receptor tyrosine kinase 1 |
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ISO |
mRNA:protein:skin: |
RGD |
PMID:7876550 |
RGD:7421586 |
NCBI chr12:7,296,899...7,468,626
Ensembl chr12:7,297,292...7,468,626
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Fyb1 |
FYN binding protein 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16033404 |
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NCBI chr 2:55,621,585...55,781,206
Ensembl chr 2:55,632,698...55,779,629
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Grk2 |
G protein-coupled receptor kinase 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16033404 |
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NCBI chr 1:201,581,480...201,601,580
Ensembl chr 1:201,581,480...201,601,582
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Hsd11b1 |
hydroxysteroid 11-beta dehydrogenase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16033404 |
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NCBI chr13:104,728,539...104,798,884
Ensembl chr13:104,728,539...104,788,687
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Ifi30 |
IFI30, lysosomal thiol reductase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17597826 |
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NCBI chr16:18,675,651...18,679,857
Ensembl chr16:18,675,613...18,681,175
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Ifng |
interferon gamma |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11312644 PMID:12484431 PMID:15347381 |
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NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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Igsf6 |
immunoglobulin superfamily, member 6 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16033404 |
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NCBI chr 1:175,610,167...175,620,662
Ensembl chr 1:175,610,167...175,620,722
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Il10 |
interleukin 10 |
treatment |
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:15347381 PMID:23760007 |
RGD:7364806 |
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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Il18 |
interleukin 18 |
treatment |
ISO |
mRNA:increased expression:skin CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:27585668 PMID:9781803 PMID:12874202 |
RGD:8655902, RGD:8655940 |
NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
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Il18bp |
interleukin 18 binding protein |
treatment |
ISO |
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RGD |
PMID:12874202 |
RGD:8655940 |
NCBI chr 1:156,372,923...156,374,963
Ensembl chr 1:156,372,883...156,374,963
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Il1a |
interleukin 1 alpha |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23178550 |
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NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
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Il2 |
interleukin 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11312644 PMID:22245253 |
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NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
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Il2ra |
interleukin 2 receptor subunit alpha |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16033404 |
|
NCBI chr17:66,849,974...66,898,665
Ensembl chr17:66,849,974...66,898,697
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G |
Il4 |
interleukin 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12484431 PMID:21804303 |
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NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
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G |
Il5 |
interleukin 5 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15347381 |
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NCBI chr10:37,874,342...37,877,213
Ensembl chr10:37,874,342...37,877,213
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G |
Ipcef1 |
interaction protein for cytohesin exchange factors 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17374397 |
|
NCBI chr 1:43,237,903...43,451,735
Ensembl chr 1:43,269,202...43,427,969
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G |
Itgam |
integrin subunit alpha M |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16033404 |
|
NCBI chr 1:182,659,047...182,709,495
Ensembl chr 1:182,659,000...182,709,503
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G |
Jam2 |
junctional adhesion molecule 2 |
|
ISO |
|
RGD |
PMID:16297198 |
RGD:7488919 |
NCBI chr11:23,830,820...23,880,071
Ensembl chr11:23,831,106...23,880,063
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G |
Jam3 |
junctional adhesion molecule 3 |
|
ISO |
|
RGD |
PMID:16297198 |
RGD:7488919 |
NCBI chr 8:25,508,461...25,569,306
Ensembl chr 8:25,507,057...25,569,355
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G |
Kdr |
kinase insert domain receptor |
|
ISO |
mRNA:protein:skin: |
RGD |
PMID:7876550 |
RGD:7421586 |
NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018
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G |
Kmo |
kynurenine 3-monooxygenase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16033404 |
|
NCBI chr13:87,557,080...87,589,334
Ensembl chr13:87,557,286...87,588,881
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G |
Mc1r |
melanocortin 1 receptor |
|
ISO |
|
RGD |
PMID:20126537 |
RGD:5687319 |
NCBI chr19:51,452,448...51,455,375
Ensembl chr19:51,453,239...51,454,192
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G |
Meox1 |
mesenchyme homeobox 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16033404 |
|
NCBI chr10:86,818,450...86,837,563
Ensembl chr10:86,818,478...86,837,660
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G |
Mir155 |
microRNA 155 |
treatment |
IEP |
|
RGD |
PMID:29404871 |
RGD:21079472 |
NCBI chr11:23,774,654...23,774,718
Ensembl chr11:23,774,654...23,774,718
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G |
Mir21 |
microRNA 21 |
treatment |
IEP |
|
RGD |
PMID:29282578 |
RGD:41404666 |
NCBI chr10:71,405,257...71,405,348
Ensembl chr10:71,405,257...71,405,348
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G |
Mki67 |
marker of proliferation Ki-67 |
|
ISO |
|
RGD |
PMID:21294775 |
RGD:6483538 |
NCBI chr 1:190,496,319...190,522,983
Ensembl chr 1:190,496,319...190,522,762
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G |
Mmp3 |
matrix metallopeptidase 3 |
|
IEP ISO |
mRNA:increased expression:skin, lymph node |
RGD |
PMID:16977379 PMID:10359808 |
RGD:2325935, RGD:8693317 |
NCBI chr 8:4,640,397...4,653,963
Ensembl chr 8:4,640,416...4,653,961
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G |
Mmp9 |
matrix metallopeptidase 9 |
|
IEP ISO |
mRNA:increased expression:skin, lymph node |
RGD |
PMID:16977379 PMID:10359808 PMID:10415717 |
RGD:2325935, RGD:8693317, RGD:8547869 |
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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G |
Mrc1 |
mannose receptor, C type 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16033404 |
|
NCBI chr17:77,249,187...77,330,857
Ensembl chr17:77,249,187...77,330,857
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G |
Mxd1 |
max dimerization protein 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17374397 |
|
NCBI chr 4:119,097,353...119,118,080
Ensembl chr 4:119,097,353...119,117,751
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G |
Nampt |
nicotinamide phosphoribosyltransferase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17374397 |
|
NCBI chr 6:49,425,316...49,462,109
Ensembl chr 6:49,424,332...49,462,100
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G |
Nat1 |
N-acetyltransferase 1 |
susceptibility |
ISO |
DNA:polymorphism: : |
RGD |
PMID:19663877 |
RGD:8552666 |
NCBI chr16:22,218,217...22,238,516
Ensembl chr16:22,208,194...22,238,520
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|
G |
Nat2 |
N-acetyltransferase 2 |
susceptibility |
ISO |
DNA:polymorphisms: : |
RGD |
PMID:16533241 |
RGD:8552663 |
NCBI chr16:22,207,362...22,238,513
Ensembl chr16:22,208,194...22,238,520
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G |
Nfe2l2 |
NFE2 like bZIP transcription factor 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23564646 |
|
NCBI chr 3:60,594,239...60,621,785
Ensembl chr 3:60,594,242...60,621,737
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G |
Ninj1 |
ninjurin 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17374397 |
|
NCBI chr17:15,452,804...15,461,684
Ensembl chr17:15,452,813...15,461,704
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G |
Numa1 |
nuclear mitotic apparatus protein 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16033404 |
|
NCBI chr 1:156,297,907...156,372,855
Ensembl chr 1:156,326,259...156,372,855
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G |
Ogg1 |
8-oxoguanine DNA glycosylase |
|
ISO |
|
RGD |
PMID:15677345 |
RGD:8657146 |
NCBI chr 4:146,474,701...146,481,959
Ensembl chr 4:146,474,750...146,484,766
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G |
Phlda1 |
pleckstrin homology-like domain, family A, member 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17374397 |
|
NCBI chr 7:46,967,433...46,969,637
Ensembl chr 7:46,967,409...46,969,861
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G |
Pim1 |
Pim-1 proto-oncogene, serine/threonine kinase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16033404 |
|
NCBI chr20:7,554,921...7,559,174
Ensembl chr20:7,554,921...7,559,174
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G |
Plat |
plasminogen activator, tissue type |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17374397 |
|
NCBI chr16:69,240,582...69,265,177
Ensembl chr16:69,240,585...69,268,223
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G |
Prdx4 |
peroxiredoxin 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16033404 |
|
NCBI chr X:40,026,762...40,044,066
Ensembl chr X:40,026,651...40,044,066
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G |
Qpct |
glutaminyl-peptide cyclotransferase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16033404 |
|
NCBI chr 6:15,964,656...15,996,925
Ensembl chr 6:15,964,657...15,996,711
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G |
Rab32 |
RAB32, member RAS oncogene family |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17374397 |
|
NCBI chr 1:4,946,193...4,961,003
Ensembl chr 1:4,945,036...4,960,934
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G |
Rgs1 |
regulator of G-protein signaling 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17374397 |
|
NCBI chr13:56,018,529...56,022,939
Ensembl chr13:56,018,554...56,022,984
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G |
Sat1 |
spermidine/spermine N1-acetyl transferase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17374397 |
|
NCBI chr X:40,158,354...40,161,641
Ensembl chr X:40,157,046...40,196,813
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G |
Sele |
selectin E |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17597826 |
|
NCBI chr13:76,402,841...76,412,741
Ensembl chr13:76,403,304...76,412,741
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G |
Slc2a3 |
solute carrier family 2 member 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17374397 |
|
NCBI chr 4:155,960,944...156,026,000
Ensembl chr 4:155,960,946...156,025,472
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G |
Slc7a5 |
solute carrier family 7 member 5 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17374397 |
|
NCBI chr19:49,935,220...49,963,823
Ensembl chr19:49,935,220...49,963,823
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G |
Socs1 |
suppressor of cytokine signaling 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16033404 |
|
NCBI chr10:4,882,651...4,884,342
Ensembl chr10:4,882,560...4,884,383
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G |
Socs2 |
suppressor of cytokine signaling 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16033404 |
|
NCBI chr 7:30,006,360...30,045,161
Ensembl chr 7:30,008,578...30,043,548
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G |
Spp1 |
secreted phosphoprotein 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:14555839 |
|
NCBI chr14:5,308,885...5,315,120
Ensembl chr14:5,308,885...5,315,162
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G |
St6gal1 |
ST6 beta-galactoside alpha-2,6-sialyltransferase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16033404 |
|
NCBI chr11:77,526,837...77,653,474
Ensembl chr11:77,526,837...77,653,310
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G |
Stac |
SH3 and cysteine rich domain |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16033404 |
|
NCBI chr 8:111,530,800...111,653,228
Ensembl chr 8:111,530,800...111,654,008
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G |
Tap2 |
transporter 2, ATP binding cassette subfamily B member |
susceptibility |
ISO |
|
RGD |
PMID:9303338 |
RGD:6482276 |
NCBI chr20:4,636,347...4,650,387
Ensembl chr20:4,636,357...4,650,407
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G |
Tlr4 |
toll-like receptor 4 |
|
ISO |
|
RGD |
PMID:20711192 PMID:18725520 |
RGD:7777133, RGD:7794737 |
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
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G |
Tlr7 |
toll-like receptor 7 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16033404 |
|
NCBI chr X:27,027,380...27,054,309
Ensembl chr X:27,027,425...27,054,754
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G |
Tmsb10 |
thymosin, beta 10 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17597826 |
|
NCBI chr 4:105,009,959...105,011,095
Ensembl chr 4:105,009,212...105,011,028
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G |
Tnf |
tumor necrosis factor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15849067 |
|
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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|
G |
Tnfaip6 |
TNF alpha induced protein 6 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16033404 PMID:17374397 |
|
NCBI chr 3:36,502,250...36,521,652
Ensembl chr 3:36,502,188...36,521,649
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G |
Tslp |
thymic stromal lymphopoietin |
treatment |
ISO |
|
RGD |
PMID:30187507 |
RGD:38596345 |
NCBI chr18:24,447,409...24,454,244
Ensembl chr18:24,449,844...24,453,548
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G |
Upp1 |
uridine phosphorylase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16033404 |
|
NCBI chr14:83,809,495...83,829,299
Ensembl chr14:83,809,960...83,829,462
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G |
Vegfa |
vascular endothelial growth factor A |
|
IEP ISO |
mRNA:protein:skin: |
RGD |
PMID:7876550 PMID:7876550 |
RGD:7421586, RGD:7421586 |
NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
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G |
Actl9 |
actin-like 9 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23042114 |
|
NCBI chr 7:14,234,504...14,235,881
Ensembl chr 7:14,234,504...14,235,881
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G |
Adam17 |
ADAM metallopeptidase domain 17 |
|
ISS |
OMIM:603165 |
MouseDO |
|
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NCBI chr 6:40,872,936...40,920,700
Ensembl chr 6:40,872,856...40,920,639
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G |
Ahr |
aryl hydrocarbon receptor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27869817 |
|
NCBI chr 6:52,234,089...52,271,568
Ensembl chr 6:52,234,089...52,271,568
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G |
Apoe |
apolipoprotein E |
|
ISO |
protein:decreased expression:plasma |
RGD |
PMID:19116453 |
RGD:11040546 |
NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
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G |
Artn |
artemin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27869817 |
|
NCBI chr 5:131,458,596...131,470,193
Ensembl chr 5:131,464,756...131,468,025
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G |
Bdnf |
brain-derived neurotrophic factor |
susceptibility no_association |
ISO |
DNA:polymorphism::C270T(human) protein:increased expression:serum: DNA:polymorphism:cds:p.V66M(human) mRNA:decreased expression:mast cell |
RGD |
PMID:19522715 PMID:17073871 PMID:19038326 PMID:17845420 |
RGD:8657028, RGD:8657069, RGD:8657067, RGD:8657065 |
NCBI chr 3:96,165,042...96,215,621
Ensembl chr 3:96,165,042...96,215,615
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G |
C3 |
complement C3 |
|
ISO |
protein:increased expression:plasma |
RGD |
PMID:3923750 |
RGD:7401273 |
NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429
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G |
Card11 |
caspase recruitment domain family, member 11 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23042114 PMID:28628108 |
|
NCBI chr12:13,620,979...13,758,115
Ensembl chr12:13,621,087...13,758,112
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G |
Casp8 |
caspase 8 |
|
ISS |
OMIM:603165 |
MouseDO |
|
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NCBI chr 9:60,263,863...60,312,542
Ensembl chr 9:60,264,075...60,312,542
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G |
Ccdc80 |
coiled-coil domain containing 80 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23042114 |
|
NCBI chr11:55,685,165...55,718,827
Ensembl chr11:55,685,872...55,719,137
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G |
Ccl11 |
C-C motif chemokine ligand 11 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18249437 |
|
NCBI chr10:67,028,328...67,032,929
Ensembl chr10:67,028,328...67,032,926
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G |
Ccl17 |
C-C motif chemokine ligand 17 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18249437 |
|
NCBI chr19:10,202,317...10,203,768
Ensembl chr19:10,202,128...10,203,819
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G |
Ccl20 |
C-C motif chemokine ligand 20 |
severity treatment |
ISO |
protein:increased expression:plasma |
RGD |
PMID:11133838 PMID:19162238 |
RGD:7483580, RGD:7483583 |
NCBI chr 9:84,389,031...84,391,629
Ensembl chr 9:84,388,904...84,391,629
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G |
Ccl22 |
C-C motif chemokine ligand 22 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18249437 PMID:22125604 |
|
NCBI chr19:10,257,602...10,264,373
Ensembl chr19:10,257,601...10,264,400
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G |
Ccl24 |
C-C motif chemokine ligand 24 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18249437 |
|
NCBI chr12:21,100,835...21,104,832
Ensembl chr12:21,100,835...21,104,893
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G |
Ccl26 |
C-C motif chemokine ligand 26 |
|
ISO |
protein:increased expression:serum (human) |
RGD |
PMID:14616792 |
RGD:11087554 |
NCBI chr12:21,109,384...21,114,336
Ensembl chr12:21,109,421...21,114,335
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|
G |
Ccl27 |
C-C motif chemokine ligand 27 |
|
ISO |
|
RGD |
PMID:12642842 |
RGD:1626250 |
NCBI chr 5:56,941,402...56,948,511
Ensembl chr 5:56,941,402...56,948,506
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|
G |
Ccl28 |
C-C motif chemokine ligand 28 |
severity |
ISO |
associated with Asthma; protein: increased secretion:serum (human) |
RGD |
PMID:20161852 |
RGD:4892193 |
NCBI chr 2:51,601,354...51,625,999
Ensembl chr 2:51,601,331...51,625,997
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|
G |
Ccl5 |
C-C motif chemokine ligand 5 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18249437 |
|
NCBI chr10:68,322,826...68,327,365
Ensembl chr10:68,322,829...68,327,377
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|
G |
Ccr2 |
C-C motif chemokine receptor 2 |
|
ISO |
protein:increased expression:skin,monocyte: |
RGD |
PMID:15370700 |
RGD:8661734 |
NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100
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|
G |
Ccr3 |
C-C motif chemokine receptor 3 |
|
ISO |
protein:increased expression:skin CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:18249437 PMID:16449815 |
RGD:6893391 |
NCBI chr 8:123,586,100...123,634,178
Ensembl chr 8:123,616,236...123,634,990
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|
G |
Ccr5 |
C-C motif chemokine receptor 5 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:18249437 PMID:16449815 |
RGD:6893391 |
NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
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|
G |
Cd40 |
CD40 molecule |
|
ISO |
|
RGD |
PMID:18693155 |
RGD:5132274 |
NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
|
|
G |
Cdsn |
corneodesmosin |
|
ISO |
protein:decreased expression:skin of body (human) |
RGD |
PMID:21211653 |
RGD:42721970 |
NCBI chr20:3,179,432...3,185,854
Ensembl chr20:3,179,438...3,184,250
|
|
G |
Cldn1 |
claudin 1 |
|
ISO |
mRNA,protein:decreased expression:epidermis; DNA:SNPs:intron,promoter :rs17501010,rs9290927,rs893051,rs9290929,rs16865373(human) |
RGD |
PMID:21163515 |
RGD:11344875 |
NCBI chr11:74,421,569...74,436,728
Ensembl chr11:74,421,569...74,436,724
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|
G |
Cldn23 |
claudin 23 |
|
ISO |
mRNA:decreased expression:epidermis: |
RGD |
PMID:21163515 |
RGD:11344875 |
NCBI chr16:56,413,677...56,415,401
Ensembl chr16:56,413,381...56,415,523
|
|
G |
Cma1 |
chymase 1 |
|
ISO |
DNA:polymorphism:5' utr:g.-1903G>A rs1800875 (human) |
RGD |
PMID:16134991 |
RGD:1625394 |
NCBI chr15:29,417,451...29,420,233
Ensembl chr15:29,417,451...29,420,233
|
|
G |
Ctla4 |
cytotoxic T-lymphocyte-associated protein 4 |
susceptibility |
ISO |
DNA:SNP,haplotype:exon,3'UTR:rs3087243,rs231775 (human) mRNA:increased expression:blood: |
RGD |
PMID:16445777 PMID:22357516 |
RGD:7411698, RGD:7411700 |
NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
|
|
G |
Ctse |
cathepsin E |
|
ISS |
OMIM:603165 |
MouseDO |
|
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NCBI chr13:43,091,954...43,114,509
Ensembl chr13:43,092,128...43,114,502
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G |
Cx3cl1 |
C-X3-C motif chemokine ligand 1 |
|
ISO |
protein:increased expression:serum |
RGD |
PMID:15131578 |
RGD:9491761 |
NCBI chr19:10,227,337...10,237,826
Ensembl chr19:10,227,340...10,236,833
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G |
Cx3cr1 |
C-X3-C motif chemokine receptor 1 |
|
ISO |
protein:decreased expression:blood, leukocyte |
RGD |
PMID:24821910 PMID:15131578 |
RGD:9491393, RGD:9491761 |
NCBI chr 8:119,785,726...119,799,431
Ensembl chr 8:119,782,595...119,800,014
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G |
Cxcl10 |
C-X-C motif chemokine ligand 10 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18249437 |
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NCBI chr14:15,704,772...15,706,969
Ensembl chr14:15,704,758...15,706,975
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G |
Cxcr3 |
C-X-C motif chemokine receptor 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18249437 |
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NCBI chr X:66,844,318...66,846,969
Ensembl chr X:66,844,318...66,846,969
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G |
Cyp1a1 |
cytochrome P450, family 1, subfamily a, polypeptide 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27869817 |
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NCBI chr 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125
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G |
Cyp4f39 |
cytochrome P450, family 4, subfamily f, polypeptide 39 |
|
ISO |
ClinVar Annotator: match by term: Atopic eczema |
ClinVar |
PMID:25741868 |
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NCBI chr 7:11,426,806...11,505,553
Ensembl chr 7:11,433,371...11,536,181
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G |
Dock8 |
dedicator of cytokinesis 8 |
|
ISO |
DNA:mutations:cds: |
RGD |
PMID:22476911 |
RGD:40903056 |
NCBI chr 1:222,649,309...222,842,474
Ensembl chr 1:222,649,309...222,842,474
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G |
Emsy |
EMSY transcriptional repressor, BRCA2 interacting |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23042114 |
|
NCBI chr 1:152,881,485...152,960,420
Ensembl chr 1:152,883,992...152,953,528
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G |
F2 |
coagulation factor II |
|
ISO |
protein:increased expression:plasma |
RGD |
PMID:21488867 |
RGD:5147756 |
NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486
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G |
Fcgr2a |
Fc gamma receptor 2A |
severity |
ISO |
protein:increased expression:eosinophil |
RGD |
PMID:7564170 PMID:19414806 |
RGD:5147985, RGD:5508430 |
NCBI chr13:83,280,782...83,297,535
Ensembl chr13:83,280,784...83,295,967
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G |
Flg |
filaggrin |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Atopic eczema |
CTD ClinVar |
PMID:16444271 PMID:16550169 PMID:16815158 PMID:17030239 PMID:17417636 PMID:17657246 PMID:18325573 PMID:19349982 PMID:19501237 PMID:19538357 PMID:19733298 PMID:19785597 PMID:19839980 PMID:19874431 PMID:20426775 PMID:20573035 PMID:21365004 PMID:21377035 PMID:21514438 PMID:21564328 PMID:21777221 PMID:22403702 PMID:22995991 PMID:23039796 PMID:23042114 PMID:23166590 PMID:23343419 PMID:23348739 PMID:23352160 PMID:23947670 PMID:23993222 PMID:24033266 PMID:24061166 PMID:24251354 PMID:24920311 PMID:25333069 PMID:25741868 PMID:26451970 PMID:27279822 PMID:27363669 PMID:27462351 PMID:28164424 PMID:28213896 PMID:28730607 PMID:29054605 PMID:29068602 PMID:29428354 PMID:29431110 PMID:29444371 PMID:29791750 PMID:30665703 PMID:31637781 More...
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NCBI chr 2:178,888,688...178,912,731
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G |
Glb1 |
galactosidase, beta 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23042114 |
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NCBI chr 8:114,085,508...114,158,127
Ensembl chr 8:114,085,508...114,158,127
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|
G |
Gstm1 |
glutathione S-transferase mu 1 |
susceptibility |
ISO |
DNA:deletion: : |
RGD |
PMID:21176116 PMID:20674822 |
RGD:5490539, RGD:5490981 |
NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
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G |
Gstp1 |
glutathione S-transferase pi 1 |
susceptibility |
ISO |
DNA:polymorphism:exon:p.I105V (rs1695) (human) |
RGD |
PMID:19842992 PMID:20674822 |
RGD:5490540, RGD:5490981 |
NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226
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G |
Gstt1 |
glutathione S-transferase theta 1 |
|
ISO |
DNA:deletion, haplotype: : |
RGD |
PMID:19842992 |
RGD:5490540 |
NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585
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G |
Havcr1 |
hepatitis A virus cellular receptor 1 |
|
ISO |
|
RGD |
PMID:16159638 |
RGD:5128852 |
NCBI chr10:31,118,667...31,151,730
Ensembl chr10:31,119,088...31,151,698
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G |
Hnmt |
histamine N-methyltransferase |
|
ISO |
|
RGD |
PMID:19025430 |
RGD:5128889 |
NCBI chr 3:6,591,804...6,623,821
Ensembl chr 3:6,591,463...6,624,012
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G |
Ifng |
interferon gamma |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:18249437 PMID:33274957 PMID:22101570 |
RGD:8157618 |
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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G |
Ifnl3 |
interferon, lambda 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22295096 |
|
NCBI chr 1:83,814,456...83,816,096
Ensembl chr 1:83,814,564...83,816,096
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G |
Il10 |
interleukin 10 |
treatment |
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:18249437 PMID:23843958 |
RGD:7364805 |
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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G |
Il13 |
interleukin 13 |
severity treatment |
ISO |
DNA:SNPs: :rs3091307, rs20541 (human) CTD Direct Evidence: marker/mechanism DNA:SNP:exon:4257G>A (human) DNA, protein:SNP, increased expression:promoter, serum:-1112C>T (human) |
CTD RGD |
PMID:18249437 PMID:22355542 PMID:21913997 PMID:16672002 PMID:17313488 PMID:19006098 PMID:10887320 PMID:23317483 More...
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RGD:5684364, RGD:8549583, RGD:8549539, RGD:8549531, RGD:8549529, RGD:8549509 |
NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737
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G |
Il13ra1 |
interleukin 13 receptor subunit alpha 1 |
|
ISO |
mRNA:increased expression:skin |
RGD |
PMID:14527737 |
RGD:8549525 |
NCBI chr X:115,348,860...115,408,682
Ensembl chr X:115,348,860...115,408,681
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G |
Il13ra2 |
interleukin 13 receptor subunit alpha 2 |
|
ISO |
protein:increased expression:serum |
RGD |
PMID:21462799 PMID:20971924 |
RGD:8549521, RGD:8549556 |
NCBI chr X:111,002,590...111,074,053
Ensembl chr X:111,002,592...111,072,381
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G |
Il17a |
interleukin 17A |
treatment severity |
ISO |
protein:increased expression:dermis, lymphocyte (human) protein:increased expression:epidermis (mouse) |
RGD |
PMID:24337738 PMID:18432274 PMID:22848348 |
RGD:8698670, RGD:9068436, RGD:9068417 |
NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889
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G |
Il18 |
interleukin 18 |
severity no_association |
ISO ISS |
protein:increased expression:serum OMIM:603165 DNA:SNP:promoter:-140C>G (rs360721) (human) DNA:SNP:promoter:-137G>C (rs187238) (human) DNA:SNPs, haplotype: :rs795467, rs4937113, rs5744247 (human) |
MouseDO RGD |
PMID:15317323 PMID:22840759 PMID:22840759 PMID:11490156 PMID:17517100 |
RGD:8655872, RGD:8655914, RGD:8655914, RGD:8655908, RGD:8655876 |
NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
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G |
Il1b |
interleukin 1 beta |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18249437 |
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NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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G |
Il2 |
interleukin 2 |
susceptibility |
ISO |
associated with food hypersensitivity; protein:increased expression:CD8+ T cell: DNA:SNP:promoter:rs2069762(human) |
RGD |
PMID:7547077 PMID:1673687 PMID:16672002 PMID:16333313 PMID:21982597 |
RGD:8662961, RGD:8693325, RGD:8549583, RGD:8663473, RGD:8663444 |
NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
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G |
Il21r |
interleukin 21 receptor |
|
ISO |
protein:increased expression:skin |
RGD |
PMID:19075398 PMID:19075398 |
RGD:6892938, RGD:6892938 |
NCBI chr 1:180,168,028...180,195,690
Ensembl chr 1:180,168,097...180,195,522
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G |
Il23a |
interleukin 23 subunit alpha |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:33274957 |
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NCBI chr 7:721,809...723,923
Ensembl chr 7:721,809...723,923
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G |
Il25 |
interleukin 25 |
|
ISO |
protein:increased expression:arm skin |
RGD |
PMID:23657503 |
RGD:39128244 |
NCBI chr15:28,408,842...28,411,676
Ensembl chr15:28,408,842...28,411,893
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G |
Il31 |
interleukin 31 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18249437 |
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NCBI chr12:33,095,108...33,105,026
Ensembl chr12:33,092,097...33,105,037
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G |
Il33 |
interleukin 33 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18249437 |
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NCBI chr 1:227,701,964...227,736,374
Ensembl chr 1:227,721,435...227,736,373
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G |
Il4 |
interleukin 4 |
|
ISO |
DNA:SNP:promoter:-590C>T (human) CTD Direct Evidence: marker/mechanism protein:increased expression:serum |
CTD RGD |
PMID:11886533 PMID:12230500 PMID:18249437 PMID:9643293 PMID:8363440 |
RGD:7829786, RGD:7829795 |
NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
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G |
Il4r |
interleukin 4 receptor |
susceptibility |
ISO |
DNA:mutation:cds:p.Q576R(human) |
RGD |
PMID:9392697 |
RGD:11530001 |
NCBI chr 1:180,115,061...180,139,981
Ensembl chr 1:180,115,120...180,139,980
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G |
Il5 |
interleukin 5 |
|
ISO |
mRNA: increased expression: skin CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:11886533 PMID:18249437 PMID:33274957 PMID:22299064 |
RGD:5687175 |
NCBI chr10:37,874,342...37,877,213
Ensembl chr10:37,874,342...37,877,213
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G |
Il6 |
interleukin 6 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18249437 |
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NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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G |
Kcnj11 |
potassium inwardly-rectifying channel, subfamily J, member 11 |
|
ISO |
ClinVar Annotator: match by term: Atopic eczema |
ClinVar |
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NCBI chr 1:96,591,048...96,594,574
Ensembl chr 1:96,591,049...96,594,082
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G |
Mapk8 |
mitogen-activated protein kinase 8 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24046278 |
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NCBI chr16:8,638,897...8,721,960
Ensembl chr16:8,638,924...8,721,981
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G |
Mbl2 |
mannose binding lectin 2 |
susceptibility |
ISO |
DNA:polymorphisms:promoter, exon: |
RGD |
PMID:20642202 |
RGD:8693720 |
NCBI chr 1:228,016,439...228,024,736
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G |
Mc1r |
melanocortin 1 receptor |
|
ISO |
protein: increased expression: skin |
RGD |
PMID:19889022 |
RGD:5687321 |
NCBI chr19:51,452,448...51,455,375
Ensembl chr19:51,453,239...51,454,192
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G |
Mmp9 |
matrix metallopeptidase 9 |
treatment |
ISO |
|
RGD |
PMID:27776525 |
RGD:13204759 |
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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G |
Ms4a2 |
membrane spanning 4-domains A2 |
susceptibility |
ISO |
Atopy and bronchial hyperresponsiveness, OMIM:147050 Atopy and bronchial hyperresponsiveness, OMIM:147050 DNA:polymorphism:CDS:amino acid E237G |
RGD |
PMID:8817330 PMID:8817330 |
RGD:1599903, RGD:1599903 |
NCBI chr 1:208,440,179...208,448,716
Ensembl chr 1:208,440,361...208,448,310
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G |
Nat2 |
N-acetyltransferase 2 |
susceptibility no_association |
ISO |
DNA:polymorphisms: :481C>T, 590G>A(human) DNA:polymorphisms: :481C>T,590G>A,857G>A(human) |
RGD |
PMID:16224574 PMID:14528063 |
RGD:8552664, RGD:8552668 |
NCBI chr16:22,207,362...22,238,513
Ensembl chr16:22,208,194...22,238,520
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G |
Nfkbia |
NFKB inhibitor alpha |
|
ISS |
OMIM:603165 |
MouseDO |
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NCBI chr 6:72,858,713...72,861,941
Ensembl chr 6:72,858,712...72,861,941
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G |
Nfkbiz |
NFKB inhibitor zeta |
|
ISS |
OMIM:603165 |
MouseDO |
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NCBI chr11:44,782,676...44,810,723
Ensembl chr11:44,782,676...44,810,723
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G |
Ngf |
nerve growth factor |
|
ISO |
protein:increased expression:serum: |
RGD |
PMID:17073871 |
RGD:8657069 |
NCBI chr 2:189,901,058...189,954,452
Ensembl chr 2:189,901,058...189,954,452
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G |
Ngfr |
nerve growth factor receptor |
|
ISO |
protein:increased expression:nerve fibers of the papillary dermis (human) |
RGD |
PMID:16586073 |
RGD:5508452 |
NCBI chr10:80,515,287...80,533,518
Ensembl chr10:80,515,299...80,533,518
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G |
Ntrk1 |
neurotrophic receptor tyrosine kinase 1 |
|
ISO |
protein:increased expression:eosinophil |
RGD |
PMID:18647313 PMID:17223862 |
RGD:5144116, RGD:5684771 |
NCBI chr 2:173,236,961...173,253,806
Ensembl chr 2:173,236,963...173,253,770
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G |
Ovol1 |
ovo like transcriptional repressor 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23042114 |
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NCBI chr 1:202,855,261...202,868,858
Ensembl chr 1:202,855,265...202,866,831
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G |
Ppara |
peroxisome proliferator activated receptor alpha |
|
ISO |
potential therapeutic target with or without glucocorticoid therapy (mouse) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:18249437 PMID:21633371 |
RGD:5509940 |
NCBI chr 7:116,832,405...116,900,878
Ensembl chr 7:116,832,756...116,895,346
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G |
Ppia |
peptidylprolyl isomerase A |
|
ISO |
mRNA:increased expression:zone of skin (human) |
RGD |
PMID:32496587 |
RGD:150383342 |
NCBI chr14:81,279,292...81,282,960
Ensembl chr14:81,275,091...81,299,601
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G |
Relb |
RELB proto-oncogene, NF-kB subunit |
|
ISO ISS |
OMIM:603165 |
MouseDO RGD |
PMID:10940923 |
RGD:7777149 |
NCBI chr 1:79,257,738...79,285,490
Ensembl chr 1:79,257,725...79,285,507
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G |
S100a8 |
S100 calcium binding protein A8 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18336422 |
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NCBI chr 2:176,166,517...176,167,645
Ensembl chr 2:176,167,124...176,167,643
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G |
Sele |
selectin E |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12410700 |
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NCBI chr13:76,402,841...76,412,741
Ensembl chr13:76,403,304...76,412,741
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G |
Selp |
selectin P |
|
ISO |
atopy and bronchial hyperresponsiveness, OMIM:147050 |
RGD |
PMID:12929084 |
RGD:1599904 |
NCBI chr13:76,476,229...76,511,846
Ensembl chr13:76,476,295...76,511,845
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G |
Sharpin |
SHANK-associated RH domain interactor |
|
ISS |
OMIM:603165 |
MouseDO |
|
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NCBI chr 7:108,070,681...108,075,012
Ensembl chr 7:108,070,687...108,074,955
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|
G |
Shoc2 |
SHOC2 leucine-rich repeat scaffold protein |
|
ISO |
associated with Noonan syndrome and related diseases; DNA:mutation:cds:c.4A>G (p.S2G)(human) |
RGD |
PMID:20882035 |
RGD:11071178 |
NCBI chr 1:252,958,939...253,048,820
Ensembl chr 1:252,959,723...253,047,337
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G |
Slc11a1 |
solute carrier family 11 member 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16597321 |
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NCBI chr 9:75,957,193...75,968,115
Ensembl chr 9:75,957,316...75,968,101
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G |
Stat6 |
signal transducer and activator of transcription 6 |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:15306842 |
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NCBI chr 7:63,480,229...63,497,551
Ensembl chr 7:63,479,642...63,498,495
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|
G |
Tgfb1 |
transforming growth factor, beta 1 |
|
ISO |
|
GAD RGD |
PMID:15118671 PMID:11496247 |
RGD:1331525, RGD:7394812 |
NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
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G |
Tlr2 |
toll-like receptor 2 |
severity |
ISO |
DNA:polymorphism: :-16934A>T(human) DNA:polymorphism:cds:p.R753Q(human) |
RGD |
PMID:19627277 PMID:22032785 PMID:17531301 |
RGD:8552997, RGD:8553048, RGD:8552999 |
NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
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G |
Tlr4 |
toll-like receptor 4 |
|
ISO |
DNA:polymorphism: :896G>A(human) mRNA:increased expression:blood cell: |
RGD |
PMID:23821954 PMID:19764566 |
RGD:7794689, RGD:7794745 |
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
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G |
Tmem79 |
transmembrane protein 79 |
|
ISS |
OMIM:603165 |
MouseDO |
|
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NCBI chr 2:173,798,267...173,803,151
Ensembl chr 2:173,798,267...173,803,046
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G |
Tnf |
tumor necrosis factor |
susceptibility |
ISO |
DNA:haplotype:promoter:−308G>A,-238G>A(human) |
RGD |
PMID:22533231 |
RGD:7401246 |
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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G |
Tnfaip6 |
TNF alpha induced protein 6 |
|
ISO |
mRNA:altered expression:fibroblast |
RGD |
PMID:16650051 |
RGD:7777183 |
NCBI chr 3:36,502,250...36,521,652
Ensembl chr 3:36,502,188...36,521,649
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G |
Traf3ip2 |
Traf3 interacting protein 2 |
|
ISS |
OMIM:603165 |
MouseDO |
|
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NCBI chr20:43,011,405...43,054,654
Ensembl chr20:43,011,450...43,054,667
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|
G |
Trpv3 |
transient receptor potential cation channel, subfamily V, member 3 |
|
ISS |
OMIM:603165 |
MouseDO |
|
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NCBI chr10:57,883,546...57,915,865
Ensembl chr10:57,883,546...57,913,296
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G |
Tslp |
thymic stromal lymphopoietin |
treatment |
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:16880407 PMID:22355542 PMID:23688403 PMID:27869817 PMID:29310423 |
RGD:38549374 |
NCBI chr18:24,447,409...24,454,244
Ensembl chr18:24,449,844...24,453,548
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Vdr |
vitamin D receptor |
severity no_association |
ISO |
DNA:SNPs, haplotype: :rs731236, rs1544410, rs7975232 (human) DNA:SNP: :rs2228570 (human) |
RGD |
PMID:23034014 PMID:23034014 |
RGD:8157625, RGD:8157625 |
NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677
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Vnn1 |
vanin 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19322213 |
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NCBI chr 1:21,537,084...21,547,395
Ensembl chr 1:21,537,094...21,547,395
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Wasl |
WASP like actin nucleation promoting factor |
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ISS |
OMIM:603165 |
MouseDO |
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NCBI chr 4:53,083,536...53,132,061
Ensembl chr 4:53,083,536...53,132,022
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Flg |
filaggrin |
susceptibility |
ISO |
ClinVar Annotator: match by term: Dermatitis, atopic, 2 | ClinVar Annotator: match by term: Dermatitis, atopic, 2, susceptibility to CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:16444271 PMID:16550169 PMID:16815158 PMID:17030239 PMID:17291859 PMID:17417636 PMID:17657246 PMID:18325573 PMID:18396323 PMID:19183181 PMID:19501237 PMID:19538357 PMID:19733298 PMID:19785597 PMID:19839980 PMID:19874431 PMID:20426775 PMID:20573035 PMID:20674819 PMID:21039602 PMID:21365004 PMID:21377035 PMID:21514438 PMID:21564328 PMID:21777221 PMID:22403702 PMID:22407025 PMID:22951058 PMID:22995991 PMID:23039796 PMID:23166590 PMID:23343419 PMID:23352160 PMID:23947670 PMID:23993222 PMID:24033266 PMID:24251354 PMID:24565632 PMID:24920311 PMID:25314673 PMID:25333069 PMID:25741868 PMID:26451970 PMID:27279822 PMID:27363669 PMID:27462351 PMID:28143684 PMID:28164424 PMID:28213896 PMID:28730607 PMID:29054605 PMID:29068602 PMID:29428354 PMID:29431110 PMID:29444371 PMID:29791750 PMID:30665703 PMID:31365035 PMID:31637781 More...
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NCBI chr 2:178,888,688...178,912,731
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Socs3 |
suppressor of cytokine signaling 3 |
susceptibility |
ISO |
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OMIM |
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NCBI chr10:103,193,909...103,197,322
Ensembl chr10:103,193,537...103,197,787
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Hr |
HR, lysine demethylase and nuclear receptor corepressor |
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ISO |
ClinVar Annotator: match by term: Atrichia with papular lesions | ClinVar Annotator: match by term: Papular Atrichia |
OMIM ClinVar |
PMID:8790387 PMID:9445480 PMID:9736769 PMID:9758627 PMID:9856480 PMID:9880231 PMID:9892925 PMID:10205263 PMID:10469319 PMID:11410842 PMID:11966690 PMID:12271294 PMID:17609203 PMID:17869066 PMID:18164595 PMID:20087431 PMID:20512917 PMID:21747609 PMID:21919222 PMID:22584530 PMID:23548463 PMID:24033266 PMID:25741868 PMID:28492532 More...
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NCBI chr15:45,626,835...45,646,313
Ensembl chr15:45,626,835...45,646,313
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G |
Odc1 |
ornithine decarboxylase 1 |
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ISS |
OMIM:209500 |
MouseDO |
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NCBI chr 6:40,329,831...40,336,444
Ensembl chr 6:40,329,964...40,336,440
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G |
Col7a1 |
collagen type VII alpha 1 chain |
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ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa dystrophica, autosomal dominant |
OMIM ClinVar |
PMID:1680286 PMID:7577595 PMID:7695699 PMID:7861014 PMID:8170945 PMID:8218237 PMID:8288900 PMID:8345225 PMID:8644729 PMID:8755915 PMID:9215684 PMID:9347800 PMID:9536098 PMID:9668111 PMID:9856843 PMID:9856844 PMID:9881948 PMID:9892921 PMID:10084325 PMID:10232408 PMID:10233777 PMID:10408773 PMID:10469344 PMID:10504458 PMID:10836608 PMID:11781296 PMID:11874498 PMID:11952672 PMID:12485454 PMID:12735646 PMID:12787275 PMID:14616374 PMID:15888141 PMID:16189623 PMID:16484981 PMID:16557343 PMID:16965329 PMID:16971478 PMID:17336503 PMID:17425959 PMID:17576681 PMID:18429782 PMID:19197535 PMID:19344236 PMID:19665875 PMID:19681861 PMID:20598510 PMID:21448560 PMID:22058051 PMID:22266148 PMID:24033266 PMID:24794830 PMID:25741868 PMID:26076072 PMID:26148662 PMID:26467025 PMID:28492532 PMID:28830826 PMID:30280950 PMID:32860008 PMID:35979658 More...
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NCBI chr 8:109,604,877...109,637,252
Ensembl chr 8:109,604,861...109,637,252
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G |
Adam17 |
ADAM metallopeptidase domain 17 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19167455 |
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NCBI chr 6:40,872,936...40,920,700
Ensembl chr 6:40,872,856...40,920,639
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G |
Anxa1 |
annexin A1 |
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ISO |
associated with Hypersensitivity, Delayed;protein:increased expression:mononuclear cell |
RGD |
PMID:10331485 |
RGD:7421575 |
NCBI chr 1:217,861,175...217,877,205
Ensembl chr 1:217,861,175...217,877,343
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G |
Dsg3 |
desmoglein 3 |
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ISO |
ClinVar Annotator: match by term: Blistering, acantholytic, of oral and laryngeal mucosa |
OMIM ClinVar |
PMID:30528827 |
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NCBI chr18:11,798,905...11,833,415
Ensembl chr18:11,798,900...11,830,818
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G |
Ccl26 |
C-C motif chemokine ligand 26 |
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ISO |
protein:increased expression:blister, serum (human) |
RGD |
PMID:21881593 |
RGD:11087555 |
NCBI chr12:21,109,384...21,114,336
Ensembl chr12:21,109,421...21,114,335
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G |
Cfb |
complement factor B |
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ISO |
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RGD |
PMID:17024247 |
RGD:7421522 |
NCBI chr20:3,970,643...3,976,510
Ensembl chr20:3,951,474...3,976,505
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G |
F2 |
coagulation factor II |
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ISO |
protein:increased expression:plasma |
RGD |
PMID:21488867 |
RGD:5147756 |
NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486
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G |
Icam1 |
intercellular adhesion molecule 1 |
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ISO |
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RGD |
PMID:1377725 |
RGD:8547591 |
NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
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G |
Il2 |
interleukin 2 |
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ISO |
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RGD |
PMID:1973607 |
RGD:8663461 |
NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
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G |
Mmp9 |
matrix metallopeptidase 9 |
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ISO |
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RGD |
PMID:9687525 |
RGD:8547843 |
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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G |
Vegfa |
vascular endothelial growth factor A |
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ISO |
mRNA:increased expression: : |
RGD |
PMID:7738351 |
RGD:7421578 |
NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
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G |
Clu |
clusterin |
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ISO |
mRNA:decreased expression:conjunctiva |
RGD |
PMID:12036968 |
RGD:8699507 |
NCBI chr15:40,161,068...40,200,315
Ensembl chr15:40,174,617...40,200,315
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G |
Il1rn |
interleukin 1 receptor antagonist |
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ISO |
protein:increased expression:serum (human) |
RGD |
PMID:11448121 |
RGD:8549794 |
NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
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G |
Ptger3 |
prostaglandin E receptor 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21966456 |
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NCBI chr 2:246,606,131...246,750,970
Ensembl chr 2:246,606,183...246,684,434
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G |
RT1-Bb |
RT1 class II, locus Bb |
susceptibility |
ISO |
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 chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
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G |
RT1-Db1 |
RT1 class II, locus Db1 |
susceptibility |
ISO |
DNA:polymorphism: :DRB1*1101, DRB1*0701(human) DNA:polymorphism: :HLA-DRB1*04(human) |
RGD |
PMID:9683867 PMID:8052655 |
RGD:7365096, RGD:7365103 |
NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
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G |
Tnf |
tumor necrosis factor |
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ISO |
protein:increased expression:Conjunctiva: |
RGD |
PMID:7750940 |
RGD:7394786 |
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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G |
Dsg1 |
desmoglein 1 |
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ISO |
ClinVar Annotator: match by term: Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige | ClinVar Annotator: match by term: SAM SYNDROME |
OMIM ClinVar |
PMID:23974871 PMID:24033266 PMID:25741868 PMID:28492532 |
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NCBI chr18:11,674,687...11,705,383
Ensembl chr18:11,674,402...11,703,443
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G |
Ager |
advanced glycosylation end product-specific receptor |
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ISO |
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RGD |
PMID:23594597 |
RGD:8695987 |
NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078
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G |
Ahr |
aryl hydrocarbon receptor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25724174 |
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NCBI chr 6:52,234,089...52,271,568
Ensembl chr 6:52,234,089...52,271,568
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G |
Akr1b10 |
aldo-keto reductase family 1 member B10 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25724174 |
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NCBI chr 4:63,038,459...63,060,336
Ensembl chr 4:63,040,169...63,053,852
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G |
Akr1c2 |
aldo-keto reductase family 1, member C2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25724174 |
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NCBI chr17:65,759,778...65,808,013
Ensembl chr17:65,759,788...65,775,764
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G |
Anxa1 |
annexin A1 |
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ISO |
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RGD |
PMID:23267026 |
RGD:7421573 |
NCBI chr 1:217,861,175...217,877,205
Ensembl chr 1:217,861,175...217,877,343
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G |
Bcl2 |
BCL2, apoptosis regulator |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25724174 |
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NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743 Ensembl chr13:22,684,989...22,853,743
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G |
Casp8 |
caspase 8 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25724174 |
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NCBI chr 9:60,263,863...60,312,542
Ensembl chr 9:60,264,075...60,312,542
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G |
Ccl2 |
C-C motif chemokine ligand 2 |
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ISO |
protein:increased expression:serum (mouse) |
RGD |
PMID:22679019 |
RGD:9590167 |
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
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G |
Ccl27 |
C-C motif chemokine ligand 27 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25724174 |
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NCBI chr 5:56,941,402...56,948,511
Ensembl chr 5:56,941,402...56,948,506
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G |
Ccn2 |
cellular communication network factor 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25724174 |
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NCBI chr 1:20,802,199...20,805,315
Ensembl chr 1:20,802,199...20,805,734
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G |
Ccr1 |
C-C motif chemokine receptor 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25724174 |
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NCBI chr 8:123,556,286...123,561,841
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G |
Cd44 |
CD44 molecule (Indian blood group) |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25724174 |
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NCBI chr 3:89,155,850...89,244,615
Ensembl chr 3:89,157,058...89,244,620
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G |
Cd46 |
CD46 molecule |
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ISO |
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RGD |
PMID:12055630 |
RGD:6483467 |
NCBI chr13:106,575,586...106,606,325
Ensembl chr13:106,574,858...106,660,445
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G |
Cd86 |
CD86 molecule |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25724174 |
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NCBI chr11:64,142,193...64,200,816
Ensembl chr11:64,163,828...64,200,818
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G |
Cldn1 |
claudin 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23136956 |
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NCBI chr11:74,421,569...74,436,728
Ensembl chr11:74,421,569...74,436,724
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G |
Crhr1 |
corticotropin releasing hormone receptor 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12631246 |
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NCBI chr10:89,040,203...89,083,481
Ensembl chr10:89,040,203...89,083,481
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G |
Ctla4 |
cytotoxic T-lymphocyte-associated protein 4 |
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ISO |
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RGD |
PMID:11348467 |
RGD:7421503 |
NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
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G |
Ctss |
cathepsin S |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25724174 |
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NCBI chr 2:183,089,192...183,114,483
Ensembl chr 2:183,086,437...183,114,483
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G |
Cxcl14 |
C-X-C motif chemokine ligand 14 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25724174 |
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NCBI chr17:8,317,933...8,325,956
Ensembl chr17:8,317,933...8,324,839
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G |
Cxcr3 |
C-X-C motif chemokine receptor 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25724174 |
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NCBI chr X:66,844,318...66,846,969
Ensembl chr X:66,844,318...66,846,969
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G |
Cyp1a1 |
cytochrome P450, family 1, subfamily a, polypeptide 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25724174 |
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NCBI chr 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125
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G |
Cyp1b1 |
cytochrome P450, family 1, subfamily b, polypeptide 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25724174 |
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NCBI chr 6:15,342,312...15,350,886
Ensembl chr 6:15,342,344...15,350,917
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G |
Ddit3 |
DNA-damage inducible transcript 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25724174 |
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NCBI chr 7:63,115,645...63,121,203
Ensembl chr 7:63,116,380...63,121,201
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G |
Defb1 |
defensin beta 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25724174 |
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NCBI chr16:70,298,862...70,313,604
Ensembl chr16:70,298,863...70,313,604
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G |
Dusp1 |
dual specificity phosphatase 1 |
treatment |
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:25724174 PMID:23076500 |
RGD:7771535 |
NCBI chr10:16,680,489...16,683,276
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G |
Esr2 |
estrogen receptor 2 |
severity |
ISO |
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RGD |
PMID:18167605 |
RGD:8694123 |
NCBI chr 6:94,858,438...94,909,630
Ensembl chr 6:94,809,547...94,908,919
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G |
F11r |
F11 receptor |
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ISO |
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RGD |
PMID:15343392 |
RGD:7488917 |
NCBI chr13:83,873,797...83,897,388
Ensembl chr13:83,873,797...83,897,402
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G |
Fabp4 |
fatty acid binding protein 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25724174 |
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NCBI chr 2:91,580,858...91,585,578
Ensembl chr 2:91,580,885...91,585,578
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G |
Flg |
filaggrin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25724174 |
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NCBI chr 2:178,888,688...178,912,731
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G |
Fth1 |
ferritin heavy chain 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25724174 |
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NCBI chr 1:206,627,142...206,629,430
Ensembl chr 1:206,627,103...206,725,424
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G |
G6pd |
glucose-6-phosphate dehydrogenase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25724174 |
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NCBI chr X:152,201,081...152,220,863
Ensembl chr X:152,201,098...152,220,801
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G |
Gclc |
glutamate-cysteine ligase, catalytic subunit |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25724174 |
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NCBI chr 8:78,629,899...78,668,547
Ensembl chr 8:78,630,127...78,668,544
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G |
Glb1 |
galactosidase, beta 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25724174 |
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NCBI chr 8:114,085,508...114,158,127
Ensembl chr 8:114,085,508...114,158,127
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G |
Gsr |
glutathione-disulfide reductase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25724174 |
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NCBI chr16:58,482,209...58,525,256
Ensembl chr16:58,482,505...58,525,661
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G |
Gss |
glutathione synthetase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25724174 |
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NCBI chr 3:144,047,849...144,078,197
Ensembl chr 3:144,047,850...144,078,198
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G |
Gstp1 |
glutathione S-transferase pi 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25724174 |
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NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226
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G |
Hdac4 |
histone deacetylase 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25724174 |
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NCBI chr 9:92,503,467...92,750,164
Ensembl chr 9:92,507,611...92,750,164
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G |
Hmox1 |
heme oxygenase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25724174 |
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NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
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G |
Hsp90aa1 |
heat shock protein 90 alpha family class A member 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25724174 |
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NCBI chr 6:129,702,376...129,707,907
Ensembl chr 6:129,702,383...129,707,268
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G |
Hspb1 |
heat shock protein family B (small) member 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25724174 |
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NCBI chr12:20,794,014...20,795,675
Ensembl chr12:20,794,028...20,795,743
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G |
Icam1 |
intercellular adhesion molecule 1 |
|
ISO |
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RGD |
PMID:20182448 |
RGD:5685684 |
NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
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G |
Igfbp2 |
insulin-like growth factor binding protein 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25724174 |
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NCBI chr 9:74,415,574...74,442,945
Ensembl chr 9:74,415,546...74,442,937
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G |
Igfbp6 |
insulin-like growth factor binding protein 6 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25724174 |
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NCBI chr 7:133,276,309...133,280,944
Ensembl chr 7:133,276,234...133,280,966
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G |
Il13 |
interleukin 13 |
treatment |
ISO |
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RGD |
PMID:19951958 |
RGD:8549563 |
NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737
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G |
Il18 |
interleukin 18 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25724174 |
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NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
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G |
Il4 |
interleukin 4 |
treatment |
ISO |
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RGD |
PMID:12188032 |
RGD:7829776 |
NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
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G |
Ing1 |
inhibitor of growth family, member 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25724174 |
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NCBI chr16:77,937,276...77,945,320
Ensembl chr16:77,937,279...77,946,264
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G |
Kdr |
kinase insert domain receptor |
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ISO |
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RGD |
PMID:15500639 |
RGD:5684424 |
NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018
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G |
Kif2c |
kinesin family member 2C |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25724174 |
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NCBI chr 5:130,637,347...130,662,680
Ensembl chr 5:130,637,347...130,662,637
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G |
Krt10 |
keratin 10 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25724174 |
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NCBI chr10:84,338,695...84,343,279
Ensembl chr10:84,338,706...84,343,701
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G |
Krt2 |
keratin 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25724174 |
|
NCBI chr 7:132,941,275...132,947,963
Ensembl chr 7:132,940,862...132,947,963
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G |
Krt4 |
keratin 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25724174 |
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NCBI chr 7:133,046,067...133,052,027
Ensembl chr 7:133,046,515...133,052,019
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G |
Lcn2 |
lipocalin 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25724174 |
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NCBI chr 3:15,680,688...15,684,033
Ensembl chr 3:15,680,687...15,684,095
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G |
Lta |
lymphotoxin alpha |
|
ISO |
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RGD |
PMID:11390430 |
RGD:8548819 |
NCBI chr20:3,618,853...3,621,324
Ensembl chr20:3,618,853...3,620,859
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G |
Ltb |
lymphotoxin beta |
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ISO |
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RGD |
PMID:11390430 |
RGD:8548819 |
NCBI chr20:3,627,536...3,629,381
Ensembl chr20:3,627,537...3,629,381
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G |
Mlana |
melan-A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25724174 |
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NCBI chr 1:227,469,537...227,483,343
Ensembl chr 1:227,469,537...227,483,343
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G |
Mmp10 |
matrix metallopeptidase 10 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25724174 |
|
NCBI chr 8:4,689,840...4,697,748
Ensembl chr 8:4,689,840...4,697,748
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G |
Mmp8 |
matrix metallopeptidase 8 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25724174 |
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NCBI chr 8:4,724,009...4,732,956
Ensembl chr 8:4,724,029...4,733,520
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G |
Nqo1 |
NAD(P)H quinone dehydrogenase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25724174 |
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NCBI chr19:35,295,633...35,310,528
Ensembl chr19:35,295,573...35,310,557
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G |
Nqo2 |
N-ribosyldihydronicotinamide:quinone reductase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25724174 |
|
NCBI chr17:30,909,482...30,938,725
Ensembl chr17:30,909,187...30,938,320
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G |
Nrg1 |
neuregulin 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25724174 |
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NCBI chr16:59,250,658...60,303,024
Ensembl chr16:59,250,854...60,296,884
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G |
Osm |
oncostatin M |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25724174 |
|
NCBI chr14:79,103,638...79,108,500
Ensembl chr14:79,104,344...79,108,313
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G |
Pir |
pirin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25724174 |
|
NCBI chr X:30,108,536...30,219,269
Ensembl chr X:30,108,538...30,219,218
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G |
Prdx6 |
peroxiredoxin 6 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25724174 |
|
NCBI chr13:73,528,746...73,539,295
Ensembl chr13:73,528,210...73,539,355
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G |
Psmd12 |
proteasome 26S subunit, non-ATPase 12 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25724174 |
|
NCBI chr10:92,438,223...92,457,323
Ensembl chr10:92,438,298...92,457,287
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G |
RT1-DMa |
RT1 class II, locus DMa |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18348411 |
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NCBI chr20:4,707,028...4,710,432
Ensembl chr20:4,707,028...4,710,432
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G |
S100a8 |
S100 calcium binding protein A8 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25724174 |
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NCBI chr 2:176,166,517...176,167,645
Ensembl chr 2:176,167,124...176,167,643
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G |
Sell |
selectin L |
|
ISO |
|
RGD |
PMID:20182448 |
RGD:5685684 |
NCBI chr13:76,416,969...76,436,444
Ensembl chr13:76,416,915...76,436,456
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G |
Serpinb3 |
serpin family B member 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25724174 |
|
NCBI chr13:23,274,120...23,280,082
Ensembl chr13:23,274,484...23,313,682
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G |
Serpinb3a |
serpin family B member 3A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25724174 |
|
NCBI chr13:23,241,303...23,246,328
Ensembl chr13:23,236,972...23,246,985
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G |
Slc7a11 |
solute carrier family 7 member 11 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25724174 |
|
NCBI chr 2:134,382,002...134,517,622
Ensembl chr 2:133,963,107...134,517,536
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G |
Sod1 |
superoxide dismutase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25724174 |
|
NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249
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G |
Sod3 |
superoxide dismutase 3 |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:17392825 |
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NCBI chr14:58,610,104...58,615,845
Ensembl chr14:58,609,958...58,615,990
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G |
Stoml2 |
stomatin like 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25724174 |
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NCBI chr 5:57,256,227...57,259,824
Ensembl chr 5:57,256,220...57,259,920
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G |
Tlr4 |
toll-like receptor 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18725520 |
|
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
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G |
Tlr8 |
toll-like receptor 8 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25724174 |
|
NCBI chr X:27,091,780...27,116,092
Ensembl chr X:27,091,778...27,116,549
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G |
Tnfsf9 |
TNF superfamily member 9 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25724174 |
|
NCBI chr 9:1,944,017...1,946,351
Ensembl chr 9:1,944,017...1,946,345
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G |
Tpsab1 |
tryptase alpha/beta 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25724174 |
|
NCBI chr10:14,360,396...14,362,811
Ensembl chr10:14,360,396...14,362,811
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G |
Txn1 |
thioredoxin 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25724174 |
|
NCBI chr 5:72,712,334...72,724,564
Ensembl chr 5:72,711,933...72,724,629
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G |
Txnrd1 |
thioredoxin reductase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25724174 |
|
NCBI chr 7:20,830,042...20,914,990
Ensembl chr 7:20,830,045...20,907,863
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G |
Ugt1a1 |
UDP glucuronosyltransferase family 1 member A1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25724174 |
|
NCBI chr 9:88,801,344...88,808,465
Ensembl chr 9:88,713,184...88,808,465
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G |
Ugt1a6 |
UDP glucuronosyltransferase family 1 member A6 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25724174 |
|
NCBI chr 9:88,747,229...88,808,465
Ensembl chr 9:88,713,184...88,808,465
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|
G |
Vegfa |
vascular endothelial growth factor A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25724174 |
|
NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
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|
G |
Xrcc1 |
X-ray repair cross complementing 1 |
susceptibility |
ISO |
associated with nasopharynx carcinoma;DNA:SNP:cds: p.R399Q (human) |
RGD |
PMID:23375119 |
RGD:150539032 |
NCBI chr 1:80,140,495...80,168,705
Ensembl chr 1:80,141,207...80,168,701
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G |
Ercc6 |
ERCC excision repair 6, chromatin remodeling factor |
|
ISO |
ClinVar Annotator: match by term: DE SANCTIS-CACCHIONE SYNDROME CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:887325 PMID:1339317 PMID:7063265 PMID:9150142 PMID:9443879 PMID:10196384 PMID:10767341 PMID:11809892 PMID:16199547 PMID:18414213 PMID:18628313 PMID:18784753 PMID:19894250 PMID:20122405 PMID:20456449 PMID:21143350 PMID:21228398 PMID:22661500 PMID:22904069 PMID:23311583 PMID:23422418 PMID:23428416 PMID:24033266 PMID:25136123 PMID:25326635 PMID:25356239 PMID:25463447 PMID:25741868 PMID:25820262 PMID:26206375 PMID:26218421 PMID:26620705 PMID:27004399 PMID:27186691 PMID:27356891 PMID:28440418 PMID:28492532 PMID:29203878 PMID:29572252 PMID:29915382 PMID:30111349 PMID:31130284 PMID:31501894 PMID:32453336 PMID:32496904 PMID:32504035 PMID:32557569 PMID:32853555 PMID:34005834 More...
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NCBI chr16:7,764,983...7,835,587
Ensembl chr16:7,765,013...7,835,587
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G |
Eln |
elastin |
|
ISO |
|
RGD |
PMID:8256113 |
RGD:9585750 |
NCBI chr12:21,968,544...22,011,929
Ensembl chr12:21,968,544...22,011,928
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G |
Lta |
lymphotoxin alpha |
|
ISO |
DNA:polymorphism |
RGD |
PMID:7914110 |
RGD:8548777 |
NCBI chr20:3,618,853...3,621,324
Ensembl chr20:3,618,853...3,620,859
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G |
Tnf |
tumor necrosis factor |
|
ISO |
DNA:polymorphism:promoter |
RGD |
PMID:7914110 |
RGD:8548777 |
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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G |
Vegfa |
vascular endothelial growth factor A |
|
ISO |
mRNA:increased expression: : |
RGD |
PMID:7738351 |
RGD:7421578 |
NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
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G |
Alox5 |
arachidonate 5-lipoxygenase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16502481 |
|
NCBI chr 4:149,531,329...149,578,696
Ensembl chr 4:149,531,515...149,578,743
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G |
Apoa1 |
apolipoprotein A1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21055120 |
|
NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035
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G |
Apoc2 |
apolipoprotein C2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21055120 |
|
NCBI chr 1:79,329,429...79,334,397
Ensembl chr 1:79,329,428...79,334,476
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G |
Apoc3 |
apolipoprotein C3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21055120 |
|
NCBI chr 8:46,531,478...46,533,658
Ensembl chr 8:46,531,478...46,533,583
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G |
Bdnf |
brain-derived neurotrophic factor |
|
ISO |
mRNA:increased expression:lymph node, ear: |
RGD |
PMID:19904815 |
RGD:8657071 |
NCBI chr 3:96,165,042...96,215,621
Ensembl chr 3:96,165,042...96,215,615
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G |
C4b |
complement C4B (Chido blood group) |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21055120 |
|
NCBI chr20:4,197,371...4,211,684
Ensembl chr20:4,197,366...4,211,681
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|
G |
Cyp1a1 |
cytochrome P450, family 1, subfamily a, polypeptide 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19351467 |
|
NCBI chr 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125
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G |
Cyp2c6v1 |
cytochrome P450, family 2, subfamily C, polypeptide 6, variant 1 |
susceptibility treatment |
ISO |
DNA:SNP: :Rs4244285(human) associated with tuberculosis; DNA.polymorphism, haplotype:cds:p.W212X (human) |
RGD |
PMID:23551241 PMID:20941486 |
RGD:11352742, RGD:124713543 |
NCBI chr 1:237,938,521...237,976,238
Ensembl chr 1:237,693,094...238,057,596
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G |
Cyp2e1 |
cytochrome P450, family 2, subfamily e, polypeptide 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19351467 |
|
NCBI chr 1:195,840,330...195,850,728
Ensembl chr 1:195,840,058...195,864,023
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G |
Fcer1a |
Fc epsilon receptor Ia |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16502481 |
|
NCBI chr13:85,686,099...85,692,394
Ensembl chr13:85,686,092...85,692,351
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G |
Ifng |
interferon gamma |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:31150805 |
|
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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G |
Il17a |
interleukin 17A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:31150805 |
|
NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889
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G |
Il18 |
interleukin 18 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18204966 |
|
NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
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G |
Il2 |
interleukin 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:31150805 |
|
NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
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G |
Il4 |
interleukin 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19351467 |
|
NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
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G |
Kng2 |
kininogen 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism|therapeutic |
CTD |
PMID:1371395 PMID:3034372 |
|
NCBI chr11:77,913,876...77,936,247
Ensembl chr11:77,909,612...78,002,971
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G |
Mpo |
myeloperoxidase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18204966 |
|
NCBI chr10:72,594,458...72,608,862
Ensembl chr10:72,594,661...72,604,819
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G |
Mthfr |
methylenetetrahydrofolate reductase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:14723717 |
|
NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
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G |
Rela |
RELA proto-oncogene, NF-kB subunit |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:31150805 |
|
NCBI chr 1:202,925,001...202,935,484
Ensembl chr 1:202,924,945...202,935,484
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G |
RT1-Ba |
RT1 class II, locus Ba |
susceptibility |
ISO |
DNA:polymorphisms:exon: |
RGD |
PMID:16836882 |
RGD:8547665 |
NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
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G |
RT1-Bb |
RT1 class II, locus Bb |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16502481 |
|
NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
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G |
Tac1 |
tachykinin, precursor 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:1371395 |
|
NCBI chr 4:35,679,183...35,687,180
Ensembl chr 4:35,679,704...35,687,178
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G |
Tnf |
tumor necrosis factor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:31150805 |
|
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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G |
Ttr |
transthyretin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21055120 |
|
NCBI chr18:11,941,791...11,951,008
Ensembl chr18:11,943,789...11,951,008
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G |
C1qa |
complement C1q A chain |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:34142820 |
|
NCBI chr 5:149,133,635...149,136,482
Ensembl chr 5:149,133,636...149,136,534
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G |
C1qb |
complement C1q B chain |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:34142820 |
|
NCBI chr 5:149,118,843...149,124,394
Ensembl chr 5:149,118,846...149,124,407
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G |
C1qc |
complement C1q C chain |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:34142820 |
|
NCBI chr 5:149,127,424...149,130,732
Ensembl chr 5:149,127,415...149,131,017
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G |
Cfhr1 |
complement factor H-related 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:34142820 |
|
NCBI chr13:51,395,583...51,410,571
Ensembl chr13:51,369,211...51,410,592
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G |
Crp |
C-reactive protein |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:34142820 |
|
NCBI chr13:85,131,635...85,175,179
Ensembl chr13:85,124,977...85,175,178
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|
G |
Hspa1l |
heat shock protein family A (Hsp70) member 1 like |
|
ISO |
DNA:polymorphism, haplotype: :p.M493T (human) |
RGD |
PMID:15024131 |
RGD:8662461 |
NCBI chr20:3,848,843...3,855,571
Ensembl chr20:3,848,843...3,855,571
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G |
Il1b |
interleukin 1 beta |
|
ISO |
DNA:SNP:promoter:-511C>T (rs 16944) (human) |
RGD |
PMID:23461376 |
RGD:11051970 |
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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G |
Il1rn |
interleukin 1 receptor antagonist |
|
ISO |
DNA:SNP:intron:rs2234663 (human) |
RGD |
PMID:23461376 |
RGD:11051970 |
NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
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G |
Lbp |
lipopolysaccharide binding protein |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:34142820 |
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NCBI chr 3:146,953,889...146,981,032
Ensembl chr 3:146,954,015...146,981,586
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G |
Lrg1 |
leucine-rich alpha-2-glycoprotein 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:34142820 |
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NCBI chr 9:947,516...949,773
Ensembl chr 9:947,516...949,813
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G |
Orm1 |
orosomucoid 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:34142820 |
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NCBI chr 5:76,766,637...76,776,149
Ensembl chr 5:76,772,941...76,776,154
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G |
Vwf |
von Willebrand factor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:34142820 |
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NCBI chr 4:158,360,152...158,491,539
Ensembl chr 4:158,360,152...158,491,539
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G |
Cd14 |
CD14 molecule |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19759553 |
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NCBI chr18:28,335,522...28,337,383
Ensembl chr18:28,335,340...28,337,261
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G |
Cd80 |
Cd80 molecule |
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ISO |
DNA:SNP |
RGD |
PMID:22192168 |
RGD:6893665 |
NCBI chr11:62,254,543...62,293,414
Ensembl chr11:62,254,624...62,292,030
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G |
Dock8 |
dedicator of cytokinesis 8 |
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ISO |
DNA:mutations: : |
RGD |
PMID:22534316 |
RGD:40902960 |
NCBI chr 1:222,649,309...222,842,474
Ensembl chr 1:222,649,309...222,842,474
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G |
Flg |
filaggrin |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Eczema |
CTD ClinVar |
PMID:16444271 PMID:16550169 PMID:16815158 PMID:17030239 PMID:17417636 PMID:17657246 PMID:18325573 PMID:19501237 PMID:19538357 PMID:19733298 PMID:19785597 PMID:19839980 PMID:19874431 PMID:20426775 PMID:20573035 PMID:21365004 PMID:21377035 PMID:21514438 PMID:21564328 PMID:21777221 PMID:22403702 PMID:22995991 PMID:23039796 PMID:23166590 PMID:23343419 PMID:23352160 PMID:23947670 PMID:23993222 PMID:24033266 PMID:24251354 PMID:24920311 PMID:25333069 PMID:25741868 PMID:26451970 PMID:27279822 PMID:27363669 PMID:27462351 PMID:28164424 PMID:28213896 PMID:28730607 PMID:29054605 PMID:29068602 PMID:29428354 PMID:29431110 PMID:29444371 PMID:29791750 PMID:30665703 PMID:31637781 More...
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NCBI chr 2:178,888,688...178,912,731
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G |
Havcr2 |
hepatitis A virus cellular receptor 2 |
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ISO |
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RGD |
PMID:16159638 |
RGD:5128852 |
NCBI chr10:30,882,484...30,914,018
Ensembl chr10:30,882,606...30,909,137
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G |
Ifngr1 |
interferon gamma receptor 1 |
resistance |
ISO |
DNA: snps: rs7749390, rs10457655 DNA: insertion: exon 5: neo cassette |
RGD |
PMID:21458658 PMID:21458658 |
RGD:6480259, RGD:6480259 |
NCBI chr 1:14,333,167...14,351,799
Ensembl chr 1:14,333,187...14,351,785
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G |
Il13 |
interleukin 13 |
no_association |
ISO |
DNA:polymorphisms: :multiple DNA:SNP:CDS:p.R130Q (rs20541) (human) |
RGD |
PMID:18410415 PMID:23815671 |
RGD:8549512, RGD:8549530 |
NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737
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G |
Il18 |
interleukin 18 |
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ISO |
DNA:SNPs:promoter, exon:multiple |
RGD |
PMID:15806006 |
RGD:8655937 |
NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
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G |
Il4r |
interleukin 4 receptor |
susceptibility |
ISO |
DNA:SNP: : rs2057768 (human) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:19759553 PMID:20002627 |
RGD:4890389 |
NCBI chr 1:180,115,061...180,139,981
Ensembl chr 1:180,115,120...180,139,980
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G |
Itga3 |
integrin subunit alpha 3 |
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ISO |
ClinVar Annotator: match by term: Eczema |
ClinVar |
PMID:25741868 |
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NCBI chr10:79,990,160...80,022,206
Ensembl chr10:79,990,161...80,022,118
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G |
Plau |
plasminogen activator, urokinase |
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ISO |
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RGD |
PMID:19416247 |
RGD:6483821 |
NCBI chr15:3,456,230...3,462,732
Ensembl chr15:3,456,232...3,462,775
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G |
Stat4 |
signal transducer and activator of transcription 4 |
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ISO |
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RGD |
PMID:22192168 |
RGD:6893665 |
NCBI chr 9:49,472,660...49,588,540
Ensembl chr 9:49,419,340...49,588,540
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G |
Xdh |
xanthine dehydrogenase |
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ISO |
ClinVar Annotator: match by term: Eczema |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 6:21,530,463...21,592,172
Ensembl chr 6:21,530,113...21,592,268
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G |
Ccl26 |
C-C motif chemokine ligand 26 |
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ISO |
protein:increased expression:skin, sebocyte (human) |
RGD |
PMID:22206772 |
RGD:11081159 |
NCBI chr12:21,109,384...21,114,336
Ensembl chr12:21,109,421...21,114,335
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G |
Exph5 |
exophilin 5 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr 8:53,698,825...53,775,371
Ensembl chr 8:53,698,852...53,773,169
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G |
Itgb4 |
integrin subunit beta 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18348258 |
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NCBI chr10:101,206,657...101,243,012
Ensembl chr10:101,206,665...101,243,012
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G |
Krt5 |
keratin 5 |
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ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa |
ClinVar |
PMID:25741868 |
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NCBI chr 7:132,846,355...132,851,986
Ensembl chr 7:132,846,136...132,851,850
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G |
Col7a1 |
collagen type VII alpha 1 chain |
susceptibility |
ISO |
DNA:insertion-deletion ClinVar Annotator: match by term: Dystrophic epidermolysis bullosa | ClinVar Annotator: match by term: Epidermolysis bullosa dystrophica | ClinVar Annotator: match by term: Hallopeau-Siemens Disease |
ClinVar OMIM RGD |
PMID:2425097 PMID:5910871 PMID:7577595 PMID:7695699 PMID:7833933 PMID:7861014 PMID:8037207 PMID:8088783 PMID:8218237 PMID:8345225 PMID:8618004 PMID:8618018 PMID:8618021 PMID:8644729 PMID:8644730 PMID:8755915 PMID:8900535 PMID:9042157 PMID:9242516 PMID:9326325 PMID:9347800 PMID:9536098 PMID:9668111 PMID:9740253 PMID:9804332 PMID:9856844 PMID:9881948 PMID:9892921 PMID:10084325 PMID:10383749 PMID:10408773 PMID:10469344 PMID:10504458 PMID:10836608 PMID:10944088 PMID:10980546 PMID:11167698 PMID:11710955 PMID:11781296 PMID:11843659 PMID:11874498 PMID:12207583 PMID:12485454 PMID:12653705 PMID:12735646 PMID:12787275 PMID:12813757 PMID:15550148 PMID:15816848 PMID:15888141 PMID:16189623 PMID:16199547 PMID:16271705 PMID:16439963 PMID:16484981 PMID:16500083 PMID:16965329 PMID:16971478 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: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:21448560 PMID:21471992 PMID:22058051 PMID:22070715 PMID:22209565 PMID:22266148 PMID:23237810 PMID:23786535 PMID:23947675 PMID:24032424 PMID:24033266 PMID:24210835 PMID:24252097 PMID:24279917 PMID:24577406 PMID:24794830 PMID:24831336 PMID:24947307 PMID:25155989 PMID:25525159 PMID:25556825 PMID:25741868 PMID:25819062 PMID:25913354 PMID:26076072 PMID:26102279 PMID:26148662 PMID:26467025 PMID:26763448 PMID:26864810 PMID:27153395 PMID:27544590 PMID:27746867 PMID:27899325 PMID:28492532 PMID:28830826 PMID:28853495 PMID:29130490 PMID:29334134 PMID:29427316 PMID:29473190 PMID:30280950 PMID:31001817 PMID:31090061 PMID:31930626 PMID:32860008 PMID:35979658 PMID:8275094 More...
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RGD:1600946 |
NCBI chr 8:109,604,877...109,637,252
Ensembl chr 8:109,604,861...109,637,252
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G |
Igfbp3 |
insulin-like growth factor binding protein 3 |
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ISO |
mRNA,protein:decreased expression:skin: |
RGD |
PMID:15140235 |
RGD:12743601 |
NCBI chr14:82,056,347...82,064,083
Ensembl chr14:82,056,347...82,064,083
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G |
Mir711 |
microRNA 711 |
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ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa dystrophica |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 8:109,621,975...109,622,042
Ensembl chr 8:109,621,975...109,622,042
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G |
Mmp1 |
matrix metallopeptidase 1 |
severity |
ISO |
DNA:insertion:promoter:g.-1607_-1606insG (human) |
OMIM RGD |
PMID:18030675 |
RGD:8549728 |
NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097
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G |
Col7a1 |
collagen type VII alpha 1 chain |
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ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa dystrophica, autosomal recessive, localisata variant |
ClinVar |
PMID:7695699 PMID:8218237 PMID:8755915 PMID:9536098 PMID:9804332 PMID:10408773 PMID:10504458 PMID:11781296 PMID:12485454 PMID:12787275 PMID:15888141 PMID:16271705 PMID:16484981 PMID:16965329 PMID:16971478 PMID:17576681 PMID:18565177 PMID:19344236 PMID:19681861 PMID:20598510 PMID:22058051 PMID:22266148 PMID:24033266 PMID:25741868 PMID:28492532 PMID:31001817 PMID:31930626 PMID:35979658 More...
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NCBI chr 8:109,604,877...109,637,252
Ensembl chr 8:109,604,861...109,637,252
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G |
Col7a1 |
collagen type VII alpha 1 chain |
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ISO |
ClinVar Annotator: match by term: DYSTROPHIC EPIDERMOLYSIS BULLOSA PRURIGINOSA | ClinVar Annotator: match by term: Epidermolysis bullosa pruriginosa | ClinVar Annotator: match by term: Epidermolysis bullosa pruriginosa, autosomal dominant | ClinVar Annotator: match by term: Epidermolysis bullosa pruriginosa, autosomal recessive |
OMIM ClinVar |
PMID:7695699 PMID:8218237 PMID:8755915 PMID:9182828 PMID:9242516 PMID:9326325 PMID:9718359 PMID:9856844 PMID:9881948 PMID:10367729 PMID:10383749 PMID:10408773 PMID:10504458 PMID:10836608 PMID:11781296 PMID:12485454 PMID:12787275 PMID:15888141 PMID:16199547 PMID:16271705 PMID:16965329 PMID:16971478 PMID:17434045 PMID:18429782 PMID:19344236 PMID:19665875 PMID:19681861 PMID:20598510 PMID:21448560 PMID:22058051 PMID:22209565 PMID:22266148 PMID:24033266 PMID:25741868 PMID:26076072 PMID:26148662 PMID:26467025 PMID:27899325 PMID:28492532 PMID:28830826 PMID:30280950 PMID:32484238 PMID:32860008 PMID:35979658 More...
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NCBI chr 8:109,604,877...109,637,252
Ensembl chr 8:109,604,861...109,637,252
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G |
Krt14 |
keratin 14 |
susceptibility |
ISO |
DNA:point mutations ClinVar Annotator: match by term: Epidermolysis bullosa simplex | ClinVar Annotator: match by term: Epidermolysis bullosa simplex, autosomal recessive CTD Direct Evidence: marker/mechanism |
ClinVar CTD RGD |
PMID:1717157 PMID:8601736 PMID:10583131 PMID:10971341 PMID:11331879 PMID:12925204 PMID:16614722 PMID:20151404 PMID:20301543 PMID:21623745 PMID:25326635 PMID:25741868 PMID:26743602 PMID:27283507 PMID:28492532 PMID:28830826 PMID:29130490 PMID:31957133 PMID:1717157 More...
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RGD:1600173 |
NCBI chr10:85,137,932...85,141,990
Ensembl chr10:85,066,802...85,171,799
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G |
Krt5 |
keratin 5 |
susceptibility |
ISO |
DNA:mutation ClinVar Annotator: match by term: Epidermolysis bullosa simplex CTD Direct Evidence: marker/mechanism |
ClinVar CTD RGD |
PMID:421361 PMID:1049409 PMID:1718160 PMID:2476664 PMID:6457621 PMID:7682695 PMID:7686424 PMID:8595431 PMID:8799157 PMID:8807337 PMID:9036937 PMID:9129237 PMID:10494094 PMID:11167681 PMID:11407988 PMID:11973334 PMID:12925204 PMID:15324323 PMID:15647384 PMID:15982306 PMID:16098032 PMID:16465624 PMID:16601668 PMID:16882168 PMID:17039244 PMID:17855059 PMID:18384561 PMID:20030639 PMID:20055872 PMID:20108434 PMID:20199538 PMID:20301543 PMID:20923750 PMID:21144712 PMID:21375516 PMID:21623745 PMID:23889190 PMID:24104543 PMID:25741868 PMID:26707537 PMID:26743602 PMID:27730678 PMID:28425111 PMID:28492532 PMID:28561874 PMID:31302245 PMID:31312705 PMID:1372711 More...
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RGD:1600195 |
NCBI chr 7:132,846,355...132,851,986
Ensembl chr 7:132,846,136...132,851,850
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G |
Mmp9 |
matrix metallopeptidase 9 |
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ISO |
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RGD |
PMID:23894602 |
RGD:13204851 |
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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G |
Plec |
plectin |
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ISO |
DNA:deletions: ; 2719de19, 5866delC; associated with muscular dystrophies ClinVar Annotator: match by term: Epidermolysis bullosa simplex |
ClinVar RGD |
PMID:11851880 PMID:23289980 PMID:25741868 PMID:8894687 |
RGD:1599911 |
NCBI chr 7:107,887,764...107,949,100
Ensembl chr 7:107,887,764...107,945,467
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G |
Krt5 |
keratin 5 |
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ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex with migratory circinate erythema |
OMIM ClinVar |
PMID:7520042 PMID:8807337 PMID:9036937 PMID:12925204 PMID:15324323 PMID:15647384 PMID:15982306 PMID:20055872 PMID:20301543 PMID:23889190 PMID:24104543 PMID:25741868 PMID:27730678 PMID:28492532 PMID:29180315 PMID:31965605 More...
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NCBI chr 7:132,846,355...132,851,986
Ensembl chr 7:132,846,136...132,851,850
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G |
Dst |
dystonin |
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ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency | ClinVar Annotator: match by term: Epidermolysis bullosa simplex, autosomal recessive 2 |
OMIM ClinVar |
PMID:20164846 PMID:22113475 PMID:24033266 PMID:25741868 PMID:28492532 PMID:31474762 PMID:33471381 More...
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NCBI chr 9:36,135,657...36,529,617
Ensembl chr 9:36,135,284...36,529,615
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G |
Exph5 |
exophilin 5 |
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ISO |
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:30016581 PMID:32176379 More...
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NCBI chr 8:53,698,825...53,775,371
Ensembl chr 8:53,698,852...53,773,169
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G |
Plec |
plectin |
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ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5C, with pyloric atresia | ClinVar Annotator: match by term: Epidermolysis bullosa simplex with pyloric atresia |
OMIM ClinVar |
PMID:11851880 PMID:14675180 PMID:15206692 PMID:15654962 PMID:15681471 PMID:15810881 PMID:20301336 PMID:22854623 PMID:23757202 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29453417 PMID:32017015 More...
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NCBI chr 7:107,887,764...107,949,100
Ensembl chr 7:107,887,764...107,945,467
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G |
Arhgap10 |
Rho GTPase activating protein 10 |
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ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy |
ClinVar |
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NCBI chr19:30,448,572...30,710,315
Ensembl chr19:30,448,637...30,710,313
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G |
Dcun1d2 |
defective in cullin neddylation 1 domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy |
ClinVar |
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NCBI chr16:76,254,433...76,281,139
Ensembl chr16:76,254,413...76,281,146
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G |
Frem2 |
FRAS1 related extracellular matrix 2 |
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ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy |
ClinVar |
PMID:28492532 |
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NCBI chr 2:137,602,784...137,740,785
Ensembl chr 2:137,602,784...137,740,785
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G |
Gpr33-ps1 |
G protein-coupled receptor 33, pseudogene 1 |
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ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy |
ClinVar |
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NCBI chr 6:69,474,435...69,475,440
Ensembl chr 6:69,474,435...69,475,440
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G |
Hrnr |
hornerin |
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ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy |
ClinVar |
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G |
Ids |
iduronate 2-sulfatase |
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ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy |
ClinVar |
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NCBI chr X:149,025,977...149,046,639
Ensembl chr X:149,025,976...149,046,663
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G |
Plec |
plectin |
|
ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy |
OMIM ClinVar |
PMID:11851880 PMID:15206692 PMID:15659326 PMID:15810881 PMID:20301336 PMID:20447487 PMID:21109228 PMID:21263134 PMID:22854623 PMID:23289980 PMID:23757202 PMID:24033266 PMID:25712130 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28824526 PMID:28830826 PMID:29453417 PMID:32017015 PMID:32725257 More...
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NCBI chr 7:107,887,764...107,949,100
Ensembl chr 7:107,887,764...107,945,467
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G |
Rp1l1 |
RP1 like 1 |
|
ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy |
ClinVar |
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NCBI chr15:38,259,595...38,271,269
Ensembl chr15:38,259,928...38,270,316
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G |
Tmem249 |
transmembrane protein 249 |
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ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy |
ClinVar |
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NCBI chr 7:108,256,535...108,259,429
Ensembl chr 7:108,257,160...108,262,513
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G |
Cd151 |
CD151 molecule (Raph blood group) |
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ISO |
ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX 7, WITH NEPHROPATHY AND DEAFNESS | ClinVar Annotator: match by term: Nephropathy with pretibial epidermolysis bullosa and deafness |
OMIM ClinVar |
PMID:15265795 PMID:25741868 PMID:25741871 PMID:28492532 |
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NCBI chr 1:196,564,744...196,568,753
Ensembl chr 1:196,565,181...196,568,753
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G |
Krt14 |
keratin 14 |
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ISS |
OMIM:131760 |
MouseDO |
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NCBI chr10:85,137,932...85,141,990
Ensembl chr10:85,066,802...85,171,799
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G |
Krt5 |
keratin 5 |
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ISS |
OMIM:131760 |
MouseDO |
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NCBI chr 7:132,846,355...132,851,986
Ensembl chr 7:132,846,136...132,851,850
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G |
Klhl24 |
kelch-like family member 24 |
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ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Koebner type |
ClinVar |
PMID:25741868 PMID:27798626 PMID:27889062 |
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NCBI chr11:80,843,621...80,877,693
Ensembl chr11:80,846,755...80,877,636
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G |
Krt14 |
keratin 14 |
|
ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Koebner type |
ClinVar |
PMID:1703046 PMID:1717157 PMID:1720261 PMID:2365356 PMID:7682883 PMID:10583131 PMID:11331879 PMID:11710919 PMID:11990248 PMID:20151404 PMID:20301543 PMID:21623745 PMID:25326635 PMID:25741868 PMID:26743602 PMID:31957133 More...
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NCBI chr10:85,137,932...85,141,990
Ensembl chr10:85,066,802...85,171,799
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G |
Krt5 |
keratin 5 |
|
ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Koebner type |
ClinVar |
PMID:7520042 PMID:8807337 PMID:20199538 PMID:25741868 |
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NCBI chr 7:132,846,355...132,851,986
Ensembl chr 7:132,846,136...132,851,850
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Plec |
plectin |
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ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Ogna type |
OMIM ClinVar |
PMID:11851880 PMID:15206692 PMID:15810881 PMID:18414213 PMID:20016501 PMID:20301336 PMID:22854623 PMID:22864774 PMID:23757202 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28400893 PMID:28492532 PMID:29334134 PMID:29453417 PMID:32017015 More...
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NCBI chr 7:107,887,764...107,949,100
Ensembl chr 7:107,887,764...107,945,467
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Krt5 |
keratin 5 |
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ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex with mottled pigmentation |
OMIM ClinVar |
PMID:421361 PMID:1049409 PMID:2476664 PMID:6457621 PMID:8799157 PMID:9036937 PMID:9129237 PMID:10494094 PMID:11167681 PMID:12925204 PMID:15324323 PMID:15647384 PMID:15982306 PMID:16098032 PMID:16601668 PMID:16882168 PMID:20030639 PMID:20055872 PMID:20108434 PMID:20301543 PMID:20923750 PMID:23889190 PMID:24104543 PMID:25741868 PMID:26743602 PMID:27730678 PMID:28492532 PMID:28561874 More...
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NCBI chr 7:132,846,355...132,851,986
Ensembl chr 7:132,846,136...132,851,850
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Adck5 |
aarF domain containing kinase 5 |
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ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 7:108,301,623...108,319,439
Ensembl chr 7:108,301,415...108,319,436
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Bop1 |
BOP1 ribosomal biogenesis factor |
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ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 7:108,172,062...108,195,875
Ensembl chr 7:108,172,066...108,195,931
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Ccdc166 |
coiled-coil domain containing 166 |
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ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 7:107,693,572...107,695,375
Ensembl chr 7:107,693,574...107,695,375
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Cpsf1 |
cleavage and polyadenylation specific factor 1 |
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ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 7:108,319,429...108,330,023
Ensembl chr 7:108,319,434...108,329,934
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Cyc1 |
cytochrome c-1 |
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ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 7:108,067,106...108,069,483
Ensembl chr 7:108,067,115...108,069,479
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Dgat1 |
diacylglycerol O-acyltransferase 1 |
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ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 7:108,223,860...108,235,413
Ensembl chr 7:108,218,524...108,234,299
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Eef1d |
eukaryotic translation elongation factor 1 delta |
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ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 7:107,581,930...107,596,735
Ensembl chr 7:107,581,930...107,608,799
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Eppk1 |
epiplakin 1 |
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ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 7:107,816,919...107,842,946
Ensembl chr 7:107,817,693...107,831,159
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Exosc4 |
exosome component 4 |
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ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 7:108,047,831...108,050,573
Ensembl chr 7:108,047,831...108,050,573
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Fam83h |
family with sequence similarity 83, member H |
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ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 7:107,716,431...107,724,619
Ensembl chr 7:107,716,431...107,728,672
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Fbxl6 |
F-box and leucine-rich repeat protein 6 |
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ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 7:108,259,097...108,262,528
Ensembl chr 7:108,257,160...108,262,513
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Foxh1 |
forkhead box H1 |
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ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 7:108,387,969...108,391,566
Ensembl chr 7:108,387,969...108,390,049
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Gfus |
GDP-L-fucose synthase |
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ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 7:107,612,087...107,617,005
Ensembl chr 7:107,612,094...107,616,948
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Gli4 |
GLI family zinc finger 4 |
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ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 7:107,325,584...107,330,911
Ensembl chr 7:107,325,607...107,330,907
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Gpaa1 |
glycosylphosphatidylinositol anchor attachment 1 |
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ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 7:108,051,896...108,055,479
Ensembl chr 7:108,051,861...108,055,484
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Gpihbp1 |
glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1 |
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ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 7:107,285,584...107,288,702
Ensembl chr 7:107,285,654...107,288,702
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Grina |
glutamate ionotropic receptor NMDA type subunit associated protein 1 |
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ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 7:107,962,194...107,965,368
Ensembl chr 7:107,962,207...107,965,366
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Gsdmd |
gasdermin D |
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ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 7:107,542,242...107,547,052
Ensembl chr 7:107,542,083...107,547,055
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Hgh1 |
HGH1 homolog |
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ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 7:108,091,918...108,094,740
Ensembl chr 7:108,091,951...108,094,737
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Hsf1 |
heat shock transcription factor 1 |
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ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 7:108,196,040...108,223,011
Ensembl chr 7:108,196,056...108,223,011
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G |
Kifc2 |
kinesin family member C2 |
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ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 7:108,380,634...108,388,364
Ensembl chr 7:108,376,011...108,388,484
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G |
Maf1 |
MAF1 homolog, negative regulator of RNA polymerase III |
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ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 7:108,075,173...108,078,252
Ensembl chr 7:108,075,189...108,078,249
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Mafa |
MAF bZIP transcription factor A |
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ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 7:107,432,292...107,435,061
Ensembl chr 7:107,433,605...107,434,690
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Mapk15 |
mitogen-activated protein kinase 15 |
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ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 7:107,694,907...107,714,640
Ensembl chr 7:107,694,964...107,714,645
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G |
Mroh1 |
maestro heat-like repeat family member 1 |
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ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 7:108,098,708...108,172,146
Ensembl chr 7:108,102,734...108,172,146
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G |
Mroh6 |
maestro heat-like repeat family member 6 |
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ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 7:107,566,212...107,576,469
Ensembl chr 7:107,569,554...107,574,173
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Naprt |
nicotinate phosphoribosyltransferase |
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ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 7:107,576,645...107,580,102
Ensembl chr 7:107,576,627...107,580,102
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G |
Nrbp2 |
nuclear receptor binding protein 2 |
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ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 7:107,798,642...107,805,230
Ensembl chr 7:107,799,497...107,805,230
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Oplah |
5-oxoprolinase (ATP-hydrolysing) |
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ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 7:108,011,472...108,051,751
Ensembl chr 7:108,011,475...108,035,297
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Parp10 |
poly (ADP-ribose) polymerase family, member 10 |
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ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 7:107,949,031...107,958,377
Ensembl chr 7:107,949,043...107,958,304
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G |
Plec |
plectin |
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ISO |
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 ClinVar |
PMID:8696340 PMID:8830774 PMID:8894687 PMID:9536098 PMID:10446808 PMID:10652002 PMID:11851880 PMID:12071635 PMID:15206692 PMID:15654962 PMID:15659326 PMID:15810881 PMID:17576681 PMID:18414213 PMID:19945614 PMID:20016501 PMID:20052759 PMID:20301336 PMID:20447487 PMID:20665883 PMID:21109228 PMID:21263134 PMID:22854623 PMID:22864774 PMID:23289980 PMID:23757202 PMID:23774525 PMID:24033266 PMID:24253200 PMID:25640679 PMID:25741868 PMID:25987458 PMID:26467025 PMID:27392081 PMID:27813154 PMID:28400893 PMID:28447722 PMID:28492532 PMID:28824526 PMID:28830826 PMID:29050564 PMID:29334134 PMID:29352809 PMID:29453417 PMID:29797489 PMID:30293987 PMID:30691450 PMID:30919572 PMID:31319225 PMID:31513275 PMID:31517061 PMID:31641117 PMID:32017015 PMID:32707200 PMID:32725257 PMID:34572129 More...
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NCBI chr 7:107,887,764...107,949,100
Ensembl chr 7:107,887,764...107,945,467
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Puf60 |
poly-U binding splicing factor 60 |
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ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 7:107,782,770...107,793,814
Ensembl chr 7:107,782,770...107,794,531
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Pycr3 |
pyrroline-5-carboxylate reductase 3 |
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ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 7:107,603,543...107,608,831
Ensembl chr 7:107,581,930...107,608,799
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Rhpn1 |
rhophilin, Rho GTPase binding protein 1 |
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ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 7:107,391,948...107,402,713
Ensembl chr 7:107,391,984...107,402,713
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Scrib |
scribble planar cell polarity protein |
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ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 7:107,759,343...107,782,364
Ensembl chr 7:107,759,343...107,782,331
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Scrt1 |
scratch family transcriptional repressor 1 |
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ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 7:108,240,986...108,244,636
Ensembl chr 7:108,240,986...108,244,636
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Scx |
scleraxis bHLH transcription factor |
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ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 7:108,176,608...108,178,626
Ensembl chr 7:108,176,608...108,178,626
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Sharpin |
SHANK-associated RH domain interactor |
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ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 7:108,070,681...108,075,012
Ensembl chr 7:108,070,687...108,074,955
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Slc39a4 |
solute carrier family 39 member 4 |
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ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 7:108,333,380...108,337,553
Ensembl chr 7:108,333,381...108,337,553
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Slc52a2 |
solute carrier family 52 member 2 |
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ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 7:108,246,003...108,267,642
Ensembl chr 7:108,262,612...108,268,034
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Spatc1 |
spermatogenesis and centriole associated 1 |
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ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 7:107,980,857...108,007,716
Ensembl chr 7:107,983,796...108,007,479
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G |
Tigd5 |
tigger transposable element derived 5 |
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ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 7:107,596,724...107,599,243
Ensembl chr 7:107,596,724...107,599,243
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Tmem249 |
transmembrane protein 249 |
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ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 7:108,256,535...108,259,429
Ensembl chr 7:108,257,160...108,262,513
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G |
Tonsl |
tonsoku-like, DNA repair protein |
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ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 7:108,345,704...108,360,792
Ensembl chr 7:108,346,047...108,360,750
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Top1mt |
DNA topoisomerase I mitochondrial |
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ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 7:107,338,092...107,368,125
Ensembl chr 7:107,342,527...107,366,049
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G |
Vps28 |
VPS28 subunit of ESCRT-I |
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ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 7:108,341,989...108,345,837
Ensembl chr 7:108,341,989...108,345,837
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G |
Zc3h3 |
zinc finger CCCH type containing 3 |
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ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 7:107,440,694...107,525,451
Ensembl chr 7:107,440,694...107,525,451
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G |
Zfp41 |
zinc finger protein 41 |
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ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 7:107,307,303...107,320,164
Ensembl chr 7:107,306,867...107,320,270
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G |
Zfp623 |
zinc finger protein 623 |
|
ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 7:107,627,296...107,636,254
Ensembl chr 7:107,627,267...107,636,321
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G |
Zfp707 |
zinc finger protein 707 |
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ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 7:107,679,597...107,686,556
Ensembl chr 7:107,650,217...107,703,459
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G |
Zftraf1 |
zinc finger TRAF-type containing 1 |
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ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 7:108,377,943...108,380,824
Ensembl chr 7:108,364,381...108,380,021
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G |
Col7a1 |
collagen type VII alpha 1 chain |
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ISO |
ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA DYSTROPHICA, BART TYPE |
OMIM ClinVar |
PMID:2425097 PMID:5910871 PMID:7695699 PMID:8218237 PMID:8618021 PMID:8755915 PMID:9881948 PMID:10408773 PMID:10836608 PMID:11710955 PMID:11781296 PMID:11843659 PMID:12485454 PMID:12787275 PMID:15888141 PMID:16965329 PMID:16971478 PMID:18429782 PMID:19344236 PMID:19665875 PMID:19681861 PMID:20598510 PMID:22058051 PMID:22266148 PMID:24033266 PMID:25741868 PMID:26076072 PMID:26148662 PMID:26467025 PMID:28492532 PMID:28830826 PMID:30280950 PMID:32860008 PMID:35979658 More...
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NCBI chr 8:109,604,877...109,637,252
Ensembl chr 8:109,604,861...109,637,252
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G |
Dsp |
desmoplakin |
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ISO |
ClinVar Annotator: match by term: Lethal acantholytic epidermolysis bullosa |
OMIM ClinVar |
PMID:9536098 PMID:10395892 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:20525856 PMID:20613772 PMID:20716751 PMID:20738328 PMID:20829228 PMID:20864495 PMID:21062920 PMID:21397041 PMID:21606390 PMID:21606396 PMID:21636032 PMID:21723241 PMID:21756917 PMID:21859740 PMID:22214898 PMID:22949226 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:23911551 PMID:24033266 PMID:24055113 PMID:24070718 PMID:24125834 PMID:24448499 PMID:24503780 PMID:24704780 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:25820315 PMID:25856671 PMID:25979592 PMID:26073755 PMID:26138720 PMID:26187847 PMID:26220970 PMID:26230511 PMID:26272908 PMID:26332594 PMID:26383259 PMID:26399581 PMID:26498160 PMID:26569459 PMID:26585738 PMID:26604139 PMID:26606670 PMID:26656175 PMID:26675346 PMID:26743238 PMID:26833927 PMID:26899768 PMID:27000522 PMID:27097650 PMID:27135274 PMID:27153395 PMID:27329731 PMID:27332903 PMID:27435932 PMID:27532257 PMID:27707468 PMID:27884173 PMID:27930701 PMID:28045975 PMID:28074886 PMID:28087426 PMID:28166811 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:28798025 PMID:29178656 PMID:29192238 PMID:29247119 PMID:29511324 PMID:29590070 PMID:29607617 PMID:29633331 PMID:29750433 PMID:29759408 PMID:29802319 PMID:29915098 PMID:30086531 PMID:30165862 PMID:30276209 PMID:30354334 PMID:30398466 PMID:30731207 PMID:30775854 PMID:30820396 PMID:30847666 PMID:30919684 PMID:30975432 PMID:31110529 PMID:31118017 PMID:31264976 PMID:31333075 PMID:31378211 PMID:31402444 PMID:31514951 PMID:31568572 PMID:31638414 PMID:31737537 PMID:31785789 PMID:31983221 PMID:32277046 PMID:32372669 PMID:32600061 PMID:32746448 PMID:32879264 PMID:32931854 PMID:32942234 PMID:33082984 PMID:33232181 PMID:33500567 PMID:33652588 PMID:33857019 PMID:34033898 PMID:34290054 PMID:34317553 PMID:35087879 More...
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NCBI chr17:26,623,602...26,671,692
Ensembl chr17:26,623,588...26,671,800
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G |
Cd40 |
CD40 molecule |
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ISO |
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RGD |
PMID:18050371 |
RGD:8547765 |
NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
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G |
Cd40lg |
CD40 ligand |
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ISO |
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RGD |
PMID:18050371 |
RGD:8547765 |
NCBI chr X:135,127,119...135,138,302
Ensembl chr X:135,126,969...135,138,306
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G |
Cd8a |
CD8 subunit alpha |
susceptibility |
ISO |
associated with adult T-cell leukemia;mRNA:increased expression:blood (human) |
RGD |
PMID:32433748 |
RGD:124715447 |
NCBI chr 4:103,365,804...103,370,041
Ensembl chr 4:103,365,804...103,370,040
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G |
Masp2 |
MBL associated serine protease 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12904520 |
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NCBI chr 5:159,035,892...159,049,561
Ensembl chr 5:159,035,911...159,049,580
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G |
RT1-Bb |
RT1 class II, locus Bb |
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ISO |
DNA:polymorphisms (human) |
RGD |
PMID:9627123 |
RGD:5147868 |
NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
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G |
Vegfa |
vascular endothelial growth factor A |
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ISO |
mRNA:increased expression: : |
RGD |
PMID:7738351 |
RGD:7421578 |
NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
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G |
C3 |
complement C3 |
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ISO |
associated with Leprosy |
RGD |
PMID:2783924 |
RGD:7421527 |
NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429
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G |
Cfb |
complement factor B |
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ISO |
associated with Leprosy |
RGD |
PMID:2783924 |
RGD:7421527 |
NCBI chr20:3,970,643...3,976,510
Ensembl chr20:3,951,474...3,976,505
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G |
Gstm1 |
glutathione S-transferase mu 1 |
susceptibility |
ISO |
associated with Behcet Syndrome;DNA:deletion:: (human) |
RGD |
PMID:22766250 |
RGD:7794848 |
NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
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G |
Lta |
lymphotoxin alpha |
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ISO |
associated with Sarcoidosis;DNA:polymorphism:intron |
RGD |
PMID:19225544 |
RGD:8548773 |
NCBI chr20:3,618,853...3,621,324
Ensembl chr20:3,618,853...3,620,859
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G |
RT1-CE13 |
RT1 class I, locus CE13 |
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ISO |
associated with Inflammatory Bowel Diseases; DNA:polymorphisms:cds:multiple (human) |
RGD |
PMID:12198697 |
RGD:7364926 |
NCBI chr20:3,314,984...3,318,037
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G |
Tnf |
tumor necrosis factor |
susceptibility |
ISO |
associated with Inflammatory Bowel Diseases;DNA:polymorphisms: :-1031T>C(human) |
RGD |
PMID:12198697 |
RGD:7364926 |
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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G |
Vdr |
vitamin D receptor |
susceptibility |
ISO |
associated with Behcet Syndrome;DNA:polymorphism: : rs7975232(human) |
RGD |
PMID:24880677 |
RGD:13217417 |
NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677
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G |
Spink5 |
serine peptidase inhibitor, Kazal type 5 |
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ISO |
ClinVar Annotator: match by term: Erythroderma |
ClinVar |
PMID:19683336 PMID:22089833 PMID:22377713 PMID:25665175 PMID:25741868 PMID:28289593 PMID:28492532 More...
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NCBI chr18:36,264,452...36,333,143
Ensembl chr18:36,264,452...36,332,185
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G |
Klhl24 |
kelch-like family member 24 |
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ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Koebner type |
ClinVar |
PMID:25741868 PMID:27798626 PMID:27889062 |
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NCBI chr11:80,843,621...80,877,693
Ensembl chr11:80,846,755...80,877,636
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G |
Krt14 |
keratin 14 |
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ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Koebner type |
OMIM ClinVar |
PMID:1703046 PMID:1717157 PMID:1720261 PMID:2365356 PMID:7682883 PMID:10583131 PMID:11331879 PMID:11710919 PMID:11990248 PMID:20151404 PMID:20301543 PMID:21623745 PMID:25326635 PMID:25741868 PMID:26743602 PMID:31957133 More...
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NCBI chr10:85,137,932...85,141,990
Ensembl chr10:85,066,802...85,171,799
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G |
Krt5 |
keratin 5 |
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ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Koebner type |
ClinVar |
PMID:7520042 PMID:8807337 PMID:20199538 PMID:25741868 |
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NCBI chr 7:132,846,355...132,851,986
Ensembl chr 7:132,846,136...132,851,850
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G |
Dst |
dystonin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr 9:36,135,657...36,529,617
Ensembl chr 9:36,135,284...36,529,615
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G |
Krt14 |
keratin 14 |
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ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive |
OMIM ClinVar |
PMID:7525407 PMID:7525408 PMID:7526933 PMID:8875963 PMID:10971341 PMID:16614722 PMID:25741868 PMID:27283507 PMID:28492532 PMID:28830826 PMID:29130490 More...
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NCBI chr10:85,137,932...85,141,990
Ensembl chr10:85,066,802...85,171,799
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G |
Krt5 |
keratin 5 |
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ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 2B, generalized intermediate |
OMIM ClinVar |
PMID:1718160 PMID:7534039 PMID:7686424 PMID:9740251 PMID:11407988 PMID:11407989 PMID:16882168 PMID:17039244 PMID:25741868 PMID:28492532 PMID:34680898 More...
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NCBI chr 7:132,846,355...132,851,986
Ensembl chr 7:132,846,136...132,851,850
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G |
Krt5 |
keratin 5 |
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ISO |
ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX 2D, GENERALIZED SEVERE, AUTOSOMAL RECESSIVE |
OMIM ClinVar |
PMID:16465624 PMID:20199538 PMID:25741868 PMID:31312705 |
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NCBI chr 7:132,846,355...132,851,986
Ensembl chr 7:132,846,136...132,851,850
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G |
Klhl24 |
kelch-like family member 24 |
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ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 6, generalized, with scarring and hair loss |
OMIM ClinVar |
PMID:25741868 PMID:27798626 PMID:27889062 |
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NCBI chr11:80,843,621...80,877,693
Ensembl chr11:80,846,755...80,877,636
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G |
Krt14 |
keratin 14 |
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ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 1A, generalized severe |
OMIM ClinVar |
PMID:1717157 PMID:9804355 PMID:10583131 PMID:10730767 PMID:11331879 PMID:11710919 PMID:16098032 PMID:16439965 PMID:20151404 PMID:20301543 PMID:21623745 PMID:25326635 PMID:25741868 PMID:26743602 PMID:27283507 PMID:28492532 PMID:31957133 More...
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NCBI chr10:85,137,932...85,141,990
Ensembl chr10:85,066,802...85,171,799
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G |
Krt5 |
keratin 5 |
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ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 1A, generalized severe |
ClinVar |
PMID:9036937 PMID:10730767 PMID:16098032 PMID:16601668 PMID:16882168 PMID:20030639 PMID:20301543 PMID:25741868 PMID:26743602 PMID:28561874 More...
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NCBI chr 7:132,846,355...132,851,986
Ensembl chr 7:132,846,136...132,851,850
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G |
Krt5 |
keratin 5 |
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ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 2A, generalized severe |
OMIM ClinVar |
PMID:1372711 PMID:8757772 PMID:9036937 PMID:10234505 PMID:10383750 PMID:16098032 PMID:16601668 PMID:16882168 PMID:20030639 PMID:20301543 PMID:25741868 PMID:26743602 PMID:28561874 More...
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NCBI chr 7:132,846,355...132,851,986
Ensembl chr 7:132,846,136...132,851,850
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G |
Atp2c1 |
ATPase secretory pathway Ca2+ transporting 1 |
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ISO |
ClinVar Annotator: match by term: Familial benign pemphigus CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:3978039 PMID:10615129 PMID:10767338 PMID:11450592 PMID:11874499 PMID:15545997 PMID:16621454 PMID:20338123 PMID:21883398 PMID:25741868 PMID:28492532 More...
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NCBI chr 8:106,034,777...106,155,854
Ensembl chr 8:106,034,636...106,156,006
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G |
Kdr |
kinase insert domain receptor |
treatment |
ISO |
DNA:polymorphism:cds:p.H472Q(human) |
RGD |
PMID:20630084 |
RGD:8552374 |
NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018
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G |
Dsc3 |
desmocollin 3 |
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ISO |
ClinVar Annotator: match by term: Hypotrichosis and recurrent skin vesicles |
OMIM ClinVar |
PMID:19765682 PMID:31790667 |
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NCBI chr18:11,379,759...11,413,797
Ensembl chr18:11,377,347...11,413,797
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G |
Krt1 |
keratin 1 |
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ISO |
ClinVar Annotator: match by term: Ichthyosis hystrix, Curth Macklin type |
OMIM ClinVar |
PMID:16417221 PMID:21844476 PMID:22834809 |
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NCBI chr 7:132,976,618...132,981,844
Ensembl chr 7:132,976,620...132,981,844
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G |
C2 |
complement C2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27258892 |
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NCBI chr20:3,951,474...3,970,376
Ensembl chr20:3,951,474...3,976,505
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G |
Cbr1 |
carbonyl reductase 1 |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:25818598 |
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NCBI chr11:32,876,563...32,884,234
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G |
Ier3 |
immediate early response 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27258892 |
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NCBI chr20:2,928,378...2,929,582
Ensembl chr20:2,928,378...2,929,583
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G |
Il4 |
interleukin 4 |
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IEP |
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RGD |
PMID:19690449 |
RGD:2317271 |
NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
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G |
RT1-Ha |
RT1 class II, locus Ha |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27258892 |
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NCBI chr20:4,760,631...4,770,662
Ensembl chr20:4,760,118...4,770,244
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G |
Stat3 |
signal transducer and activator of transcription 3 |
treatment |
ISO |
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RGD |
PMID:21511023 |
RGD:8694305 |
NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057
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G |
Trim10 |
tripartite motif-containing 10 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27258892 |
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NCBI chr20:1,689,554...1,698,948
Ensembl chr20:1,689,562...1,698,252
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G |
Trim31 |
tripartite motif-containing 31 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27258892 |
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NCBI chr20:1,653,165...1,666,494
Ensembl chr20:1,653,165...1,666,494
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G |
Trim40 |
tripartite motif-containing 40 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27258892 |
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NCBI chr20:1,676,188...1,685,906
Ensembl chr20:1,676,270...1,685,214
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G |
Col17a1 |
collagen type XVII alpha 1 chain |
susceptibility |
ISO |
ClinVar Annotator: match by term: Junctional epidermolysis bullosa |
ClinVar RGD |
PMID:7550320 PMID:9199555 PMID:9740252 PMID:10398261 PMID:10577906 PMID:11851893 PMID:16473856 PMID:17344927 PMID:20301304 PMID:21357940 PMID:24319098 PMID:25741868 PMID:28492532 PMID:7550320 More...
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RGD:1600884 |
NCBI chr 1:246,530,589...246,577,632
Ensembl chr 1:246,531,367...246,577,632
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G |
Itga6 |
integrin subunit alpha 6 |
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ISO |
epidermolysis bullosa with pyloric atresia, OMIM:226730 ClinVar Annotator: match by term: Junctional epidermolysis bullosa |
ClinVar RGD |
PMID:21357940 PMID:25741868 PMID:9185503 |
RGD:1600016 |
NCBI chr 3:56,604,512...56,689,428
Ensembl chr 3:56,617,268...56,689,428
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G |
Itgb4 |
integrin subunit beta 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:7545057 |
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NCBI chr10:101,206,657...101,243,012
Ensembl chr10:101,206,665...101,243,012
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G |
Lama3 |
laminin subunit alpha 3 |
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ISO |
ClinVar Annotator: match by term: Junctional epidermolysis bullosa CTD Direct Evidence: marker/mechanism |
ClinVar CTD RGD |
PMID:10366601 PMID:11810295 PMID:12915477 PMID:16473856 PMID:17362460 PMID:17916201 PMID:22434185 PMID:23869449 PMID:25741868 PMID:27827380 PMID:28087116 PMID:28492532 PMID:8586427 More...
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RGD:1600080 |
NCBI chr18:3,523,168...3,751,722
Ensembl chr18:3,523,133...3,751,353
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G |
Lamb3 |
laminin subunit beta 3 |
susceptibility |
ISO |
DNA:nonsense mutation ClinVar Annotator: match by term: Junctional epidermolysis bullosa CTD Direct Evidence: marker/mechanism |
ClinVar CTD RGD |
PMID:7550237 PMID:7698759 PMID:8824879 PMID:8983017 PMID:9038345 PMID:9205497 PMID:9242513 PMID:9326326 PMID:9536098 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:20301304 PMID:21801158 PMID:22931927 PMID:24033266 PMID:24617447 PMID:25525159 PMID:25708563 PMID:25741868 PMID:25950805 PMID:27062385 PMID:27375110 PMID:27480391 PMID:28492532 PMID:28561256 PMID:28830826 PMID:29334134 PMID:29900604 PMID:30046887 PMID:32484238 PMID:33274474 PMID:34231856 PMID:7698759 More...
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RGD:1600209 |
NCBI chr13:104,833,810...104,875,405
Ensembl chr13:104,833,873...104,875,405
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Lamc2 |
laminin subunit gamma 2 |
susceptibility |
ISO |
DNA:splice-site mutation, deletion-insertion ClinVar Annotator: match by term: Junctional epidermolysis bullosa CTD Direct Evidence: marker/mechanism |
ClinVar CTD RGD |
PMID:9856849 PMID:11231327 PMID:11810295 PMID:11907499 PMID:15370542 PMID:15373767 PMID:15538630 PMID:16473856 PMID:17916201 PMID:21198797 PMID:21801158 PMID:25741868 PMID:26739954 PMID:28492532 PMID:28830826 PMID:31395954 PMID:8012393 More...
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RGD:1600210 |
NCBI chr13:65,284,664...65,344,200
Ensembl chr13:65,284,664...65,344,200
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Lamb3 |
laminin subunit beta 3 |
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ISO |
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OMIM |
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NCBI chr13:104,833,810...104,875,405
Ensembl chr13:104,833,873...104,875,405
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Lama3 |
laminin subunit alpha 3 |
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ISO |
ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 1B, SEVERE |
ClinVar |
PMID:10366601 PMID:11810295 PMID:12915477 PMID:16473856 PMID:17362460 PMID:22434185 PMID:23869449 PMID:25525159 PMID:27827380 PMID:28087116 PMID:28492532 PMID:33274474 More...
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NCBI chr18:3,523,168...3,751,722
Ensembl chr18:3,523,133...3,751,353
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G |
Lamb3 |
laminin subunit beta 3 |
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ISO |
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OMIM |
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NCBI chr13:104,833,810...104,875,405
Ensembl chr13:104,833,873...104,875,405
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Lama3 |
laminin subunit alpha 3 |
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ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa, junctional 2A, intermediate |
OMIM ClinVar |
PMID:11810295 |
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NCBI chr18:3,523,168...3,751,722
Ensembl chr18:3,523,133...3,751,353
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Lama3 |
laminin subunit alpha 3 |
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ISO |
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:22434185 PMID:25741868 PMID:28492532 More...
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NCBI chr18:3,523,168...3,751,722
Ensembl chr18:3,523,133...3,751,353
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Lama3 |
laminin subunit alpha 3 |
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ISO |
ClinVar Annotator: match by term: Laryngo-onycho-cutaneous syndrome CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:7633458 PMID:8530087 PMID:8618022 PMID:8824879 PMID:8983017 PMID:11810295 PMID:12915477 PMID:23869449 PMID:24033266 PMID:25363238 PMID:25741868 PMID:26635394 PMID:28492532 PMID:35314946 More...
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NCBI chr18:3,523,168...3,751,722
Ensembl chr18:3,523,133...3,751,353
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Lamc2 |
laminin subunit gamma 2 |
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ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa, junctional 3A, intermediate |
OMIM ClinVar |
PMID:11564184 PMID:11810295 PMID:11907499 PMID:15538630 PMID:16199547 PMID:16473856 PMID:28492532 PMID:28830826 More...
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NCBI chr13:65,284,664...65,344,200
Ensembl chr13:65,284,664...65,344,200
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Lamc2 |
laminin subunit gamma 2 |
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ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa, junctional 3B, severe |
OMIM ClinVar |
PMID:7849725 PMID:8012114 PMID:8012393 PMID:8012394 PMID:8824879 PMID:8983017 PMID:9085255 PMID:10951251 PMID:11810295 PMID:11907499 PMID:15373767 PMID:16473856 PMID:17916201 PMID:20301304 PMID:25741868 PMID:28492532 More...
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NCBI chr13:65,284,664...65,344,200
Ensembl chr13:65,284,664...65,344,200
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Col17a1 |
collagen type XVII alpha 1 chain |
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ISO |
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:9740252 PMID:10398261 PMID:10577906 PMID:10636730 PMID:10951237 PMID:11851893 PMID:16199547 PMID:16354180 PMID:16473856 PMID:17344927 PMID:19340010 PMID:20301304 PMID:21357940 PMID:24319098 PMID:25741868 PMID:28492532 More...
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NCBI chr 1:246,530,589...246,577,632
Ensembl chr 1:246,531,367...246,577,632
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Galk1 |
galactokinase 1 |
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ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa, junctional 5A, intermediate |
ClinVar |
PMID:9546354 PMID:9892956 PMID:12485428 PMID:25741868 |
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NCBI chr10:101,243,146...101,247,323
Ensembl chr10:101,235,994...101,247,337
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Itgb4 |
integrin subunit beta 4 |
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ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa, junctional 5A, intermediate |
OMIM ClinVar |
PMID:9546354 PMID:9892956 PMID:10792571 PMID:12485428 PMID:25741868 |
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NCBI chr10:101,206,657...101,243,012
Ensembl chr10:101,206,665...101,243,012
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Itga3 |
integrin subunit alpha 3 |
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ISO |
ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 7, WITH INTERSTITIAL LUNG DISEASE AND NEPHROTIC SYNDROME | ClinVar Annotator: match by term: Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital |
OMIM ClinVar |
PMID:22512483 PMID:24088041 PMID:25741868 PMID:25810266 PMID:26633545 PMID:28492532 PMID:29127259 More...
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NCBI chr10:79,990,160...80,022,206
Ensembl chr10:79,990,161...80,022,118
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Itga6 |
integrin subunit alpha 6 |
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ISS |
OMIM:226700 |
MouseDO |
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NCBI chr 3:56,604,512...56,689,428
Ensembl chr 3:56,617,268...56,689,428
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Lama3 |
laminin subunit alpha 3 |
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ISO |
ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA, JUNCTIONAL, GENERALIZED SEVERE | ClinVar Annotator: match by term: Junctional epidermolysis bullosa gravis of Herlitz |
ClinVar |
PMID:7633458 PMID:8530087 PMID:8618022 PMID:8824879 PMID:8983017 PMID:10366601 PMID:11810295 PMID:12915477 PMID:12943669 PMID:15373767 PMID:16199547 PMID:16473856 PMID:16971478 PMID:17362460 PMID:22434185 PMID:23869449 PMID:24033266 PMID:25363238 PMID:25525159 PMID:25741868 PMID:26635394 PMID:27375110 PMID:27827380 PMID:28087116 PMID:28492532 PMID:33274474 More...
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NCBI chr18:3,523,168...3,751,722
Ensembl chr18:3,523,133...3,751,353
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G |
Lamb3 |
laminin subunit beta 3 |
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ISS ISO |
OMIM:226700 ClinVar Annotator: match by term: Junctional epidermolysis bullosa gravis of Herlitz |
MouseDO ClinVar |
PMID:7550237 PMID:7698759 PMID:7706760 PMID:8362910 PMID:8541876 PMID:8755931 PMID:8824879 PMID:8983017 PMID:9160387 PMID:9205497 PMID:9242513 PMID:9326326 PMID:9457915 PMID:9579554 PMID:9690563 PMID:9767254 PMID:9856852 PMID: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: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:29900604 PMID:30544381 PMID:32484238 PMID:34231856 More...
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NCBI chr13:104,833,810...104,875,405
Ensembl chr13:104,833,873...104,875,405
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G |
Lamc2 |
laminin subunit gamma 2 |
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ISS ISO |
OMIM:226700 ClinVar Annotator: match by term: Junctional epidermolysis bullosa gravis of Herlitz |
MouseDO ClinVar |
PMID:7849725 PMID:8012114 PMID:8012393 PMID:8012394 PMID:8824879 PMID:8983017 PMID:9085255 PMID:11231327 PMID:11564184 PMID:11907499 PMID:15373767 PMID:16199547 PMID:16473856 PMID:17916201 PMID:20301304 PMID:25741868 PMID:27696112 PMID:28492532 PMID:31395954 More...
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NCBI chr13:65,284,664...65,344,200
Ensembl chr13:65,284,664...65,344,200
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