RGD DISEASE ONTOLOGY - ANNOTATIONS
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.
Term: Viral Skin Diseases
Accession: DOID:9001063
browse the term
Definition: Skin diseases caused by viruses.
Synonyms: exact_synonym: Viral Skin Disease
primary_id: MESH:D017193 ; RDO:0005546
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Ccl20
C-C motif chemokine ligand 20
ISO
protein:decreased expression:skin
RGD
PMID:17545018
RGD:7483603
NCBI chr 9:91,837,139...91,839,736
Ensembl chr 9:91,836,946...91,839,736
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Cd8a
CD8 subunit alpha
ISO
mRNA:decreased expression:zone of skin (human)
RGD
PMID:25774455
RGD:36174028
NCBI chr 4:104,924,116...104,928,353
Ensembl chr 4:104,900,833...104,928,358
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Ctla4
cytotoxic T-lymphocyte-associated protein 4
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 9:69,812,859...69,819,959
Ensembl chr 9:69,813,265...69,819,973
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Foxp3
forkhead box P3
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr X:17,580,380...17,601,181
Ensembl chr X:17,580,380...17,595,894
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Ifna1
interferon, alpha 1
treatment
ISO
RGD
PMID:25774455
RGD:36174028
NCBI chr 5:108,143,240...108,143,809
Ensembl chr 5:108,143,240...108,143,809
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Il10
interleukin 10
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr13:45,024,921...45,029,586
Ensembl chr13:45,025,087...45,029,580
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Il12b
interleukin 12B
treatment
ISO
protein:decreased expression:peripheral blood mononuclear cells (human)
RGD
PMID:16114559 PMID:23754510
RGD:7829774 , RGD:40400714
NCBI chr10:29,390,300...29,405,194
Ensembl chr10:29,389,905...29,405,194
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Il2
interleukin 2
ISO
protein:decreased expression:peripheral blood mononuclear cells (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 2:121,932,968...121,937,672
Ensembl chr 2:121,932,968...121,937,672
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Il21
interleukin 21
ISO
protein:decreased expression:blood serum (human)
RGD
PMID:31414711
RGD:127285371
NCBI chr 2:122,045,240...122,055,142
Ensembl chr 2:122,045,240...122,055,142
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Il4
interleukin 4
treatment
ISO
protein:increased expression:peripheral blood mononuclear cells (human)
RGD
PMID:16114559 PMID:23754510
RGD:7829774 , RGD:40400714
NCBI chr10:38,272,003...38,277,549
Ensembl chr10:38,272,003...38,277,549
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Il6
interleukin 6
ISO
protein:decreased expression:peripheral blood mononuclear cells (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,889,999...5,894,610
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Klrk1
killer cell lectin like receptor K1
ISO
mRNA,protein:decreased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 4:164,767,377...164,778,453
Ensembl chr 4:164,767,946...164,778,382
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Mapk8
mitogen-activated protein kinase 8
treatment
ISO
mRNA:increased expression:zone of skin (human)
RGD
PMID:25774455
RGD:36174028
NCBI chr16:8,645,171...8,728,225
Ensembl chr16:8,645,198...8,728,427
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Myd88
MYD88, innate immune signal transduction adaptor
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 8:127,952,161...127,956,230
Ensembl chr 8:127,952,161...127,956,230
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Ncr1
natural cytotoxicity triggering receptor 1
ISO
mRNA,protein:decreased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 1:78,657,409...78,665,255
Ensembl chr 1:78,659,262...78,703,273
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Pdcd1
programmed cell death 1
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 9:101,866,124...101,879,278
Ensembl chr 9:101,866,126...101,879,270
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Ptpn11
protein tyrosine phosphatase, non-receptor type 11
ISO
protein:increased expression:foreskin
RGD
PMID:18543080
RGD:39128248
NCBI chr12:41,026,079...41,085,577
Ensembl chr12:41,043,785...41,085,577
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Ptpn6
protein tyrosine phosphatase, non-receptor type 6
ISO
protein:increased expression:foreskin
RGD
PMID:18543080
RGD:39128248
NCBI chr 4:159,212,320...159,237,069
Ensembl chr 4:159,212,320...159,237,069
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Serpinf1
serpin family F member 1
disease_progression
ISO
mRNA, protein:decreased expression:skin of body (human)
RGD
PMID:23569025
RGD:27226706
NCBI chr10:60,748,504...60,760,898
Ensembl chr10:60,748,506...60,760,898
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Tgfb1
transforming growth factor, beta 1
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 1:90,324,312...90,340,627
Ensembl chr 1:90,324,046...90,340,899
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Tlr2
toll-like receptor 2
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 2:171,499,189...171,504,831
Ensembl chr 2:171,497,060...171,520,194
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Tlr3
toll-like receptor 3
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr16:53,554,916...53,572,321
Ensembl chr16:53,555,131...53,568,385
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Tlr4
toll-like receptor 4
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 5:85,161,247...85,174,882
Ensembl chr 5:85,161,192...85,175,007
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Tlr7
toll-like receptor 7
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr X:30,644,324...30,670,796
Ensembl chr X:30,644,355...30,672,151
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Tlr8
toll-like receptor 8
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr X:30,708,714...30,733,104
Ensembl chr X:30,708,033...30,737,079
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Tlr9
toll-like receptor 9
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 8:115,743,407...115,747,523
Ensembl chr 8:115,742,889...115,750,148
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Tnf
tumor necrosis factor
ISO
protein:increased expression:peripheral blood mononuclear cells (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,626,532...3,629,303
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Tnfrsf18
TNF receptor superfamily member 18
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 5:171,901,734...171,904,578
Ensembl chr 5:171,901,717...171,904,576
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Birc2
baculoviral IAP repeat-containing 2
ISO
mRNA:increased expression:perianal skin (human)
RGD
PMID:20346172
RGD:152998971
NCBI chr 8:13,253,697...13,273,672
Ensembl chr 8:13,253,706...13,271,911
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Birc3
baculoviral IAP repeat-containing 3
ISO
mRNA:increased expression:perianal skin (human)
RGD
PMID:20346172
RGD:152998971
NCBI chr 8:13,285,702...13,313,329
Ensembl chr 8:13,285,703...13,298,590
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Ido1
indoleamine 2,3-dioxygenase 1
severity
ISO
associated with atopic dermatitis; protein:increased activity:serum (human)
RGD
PMID:26198597
RGD:11528429
NCBI chr16:74,133,259...74,145,328
Ensembl chr16:74,133,259...74,145,328
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Ifng
interferon gamma
susceptibility
ISO
mRNA,protein:decreased expression:peripheral mononuclear cell: DNA:haplotype::
RGD
PMID:21458658 PMID:21458658
RGD:6480259 , RGD:6480259
NCBI chr 7:55,789,180...55,793,216
Ensembl chr 7:55,761,736...55,793,216
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Snora31
small nucleolar RNA, H/ACA box 31
susceptibility
ISO
OMIM
NCBI chr15:57,568,564...57,568,693
Ensembl chr15:57,568,564...57,568,693
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Tmc6
transmembrane channel like 6
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Epidermodysplasia verruciformis
CTD ClinVar
PMID:9536098 PMID:12426567 PMID:15042430 PMID:16199547 PMID:17139267 PMID:17576681 PMID:24033266 PMID:25741868 PMID:28492532 PMID:36268689 More...
NCBI chr10:103,480,762...103,498,207
Ensembl chr10:103,480,762...103,497,398
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Tmc8
transmembrane channel-like 8
ISO
ClinVar Annotator: match by term: Epidermodysplasia verruciformis
ClinVar
PMID:9536098 PMID:10084299 PMID:12426567 PMID:16045695 PMID:16199547 PMID:17368633 PMID:17576681 PMID:22158547 PMID:24033266 PMID:25741868 PMID:28492532 More...
NCBI chr10:103,498,505...103,509,496
Ensembl chr10:103,499,041...103,509,294
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Tmc6
transmembrane channel like 6
susceptibility
ISO
ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 1 | ClinVar Annotator: match by term: TMC6-related condition
ClinVar OMIM
PMID:9536098 PMID:12426567 PMID:15042430 PMID:16199547 PMID:17139267 PMID:17576681 PMID:25741868 PMID:28492532 PMID:36268689 More...
NCBI chr10:103,480,762...103,498,207
Ensembl chr10:103,480,762...103,497,398
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Tmc8
transmembrane channel-like 8
ISO
ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 1
ClinVar
PMID:12426567 PMID:22158547 PMID:25741868 PMID:28492532
NCBI chr10:103,498,505...103,509,496
Ensembl chr10:103,499,041...103,509,294
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Tmc8
transmembrane channel-like 8
susceptibility
ISO
ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 2 | ClinVar Annotator: match by term: TMC8-related condition
OMIM ClinVar
PMID:10084299 PMID:12426567 PMID:16199547 PMID:22158547 PMID:24033266 PMID:25741868 PMID:28492532 PMID:28646613 More...
NCBI chr10:103,498,505...103,509,496
Ensembl chr10:103,499,041...103,509,294
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Cib1
calcium and integrin binding 1
susceptibility
ISO
ClinVar Annotator: match by term: CIB1-related condition | ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 3
OMIM ClinVar
PMID:228581 PMID:19702156 PMID:20982046 PMID:21196704 PMID:25741868 PMID:28492532 PMID:28646613 PMID:30068544 More...
NCBI chr 1:143,587,591...143,593,153
Ensembl chr 1:143,587,021...143,593,326
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Ccl5
C-C motif chemokine ligand 5
ISO
RGD
PMID:12502811
RGD:4890015
NCBI chr10:68,820,330...68,824,906
Ensembl chr10:68,738,651...68,824,884
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Ifnar1
interferon alpha and beta receptor subunit 1
exacerbates
ISO
RGD
PMID:28264883
RGD:125093738
NCBI chr11:44,211,769...44,238,206
Ensembl chr11:44,211,845...44,238,205
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Ifng
interferon gamma
ISO
protein:increased expression:vaginal secretion:
RGD
PMID:10366565
RGD:8158034
NCBI chr 7:55,789,180...55,793,216
Ensembl chr 7:55,761,736...55,793,216
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Il21
interleukin 21
treatment
ISO
RGD
PMID:24358128
RGD:127285365
NCBI chr 2:122,045,240...122,055,142
Ensembl chr 2:122,045,240...122,055,142
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Il3
interleukin 3
ISO
RNA: increased expression
RGD
PMID:21175248
RGD:5686876
NCBI chr10:38,906,460...38,908,810
Ensembl chr10:38,906,460...38,908,810
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Irf9
interferon regulatory factor 9
exacerbates
ISO
RGD
PMID:28264883
RGD:125093738
NCBI chr15:33,065,422...33,071,881
Ensembl chr15:33,065,659...33,071,879
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Nfe2l2
NFE2 like bZIP transcription factor 2
ameliorates
ISO
RGD
PMID:31555293
RGD:42722615
NCBI chr 3:81,001,529...81,031,165
Ensembl chr 3:81,001,529...81,029,090
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Rnasel
ribonuclease L
severity
ISO
RGD
PMID:17157346
RGD:40902623
NCBI chr13:68,446,641...68,460,804
Ensembl chr13:68,446,882...68,459,557
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Stat4
signal transducer and activator of transcription 4
treatment severity
ISO
DNA:SNP:intron:rs7572482 (human) DNA:SNPs, haplotype: :multiple
RGD
PMID:22718836 PMID:22718836
RGD:8661697 , RGD:8661697
NCBI chr 9:56,964,617...57,080,523
Ensembl chr 9:56,911,523...57,077,346
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Apoe
apolipoprotein E
ISO
RGD
PMID:17101197
RGD:7771596
NCBI chr 1:88,481,889...88,485,816
Ensembl chr 1:88,481,385...88,485,855
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C3
complement C3
ISO
RGD
PMID:11509581
RGD:7401276
NCBI chr 9:2,174,412...2,201,339
Ensembl chr 9:2,174,412...2,201,339
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Ccl2
C-C motif chemokine ligand 2
ISO
mRNA:increased expression:cornea (mouse)
RGD
PMID:9544579
RGD:8549472
NCBI chr10:67,503,077...67,504,875
Ensembl chr10:67,503,077...67,504,875
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Cd1d1
CD1d1 molecule
exacerbates
ISO
RGD
PMID:18614643
RGD:127345112
NCBI chr 2:174,721,522...174,725,029
Ensembl chr 2:174,721,522...174,725,029
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Cd274
CD274 molecule
ISO
RGD
PMID:29669784
RGD:41412169
NCBI chr 1:236,526,215...236,549,956
Ensembl chr 1:236,496,463...236,549,951
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Cd40lg
CD40 ligand
ISO
RGD
PMID:11134274
RGD:8547770
NCBI chr X:140,164,341...140,176,057
Ensembl chr X:140,164,302...140,176,475
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Cd8a
CD8 subunit alpha
ISO
mRNA:increased expression:trigeminal ganglion (mouse)
RGD
PMID:19151393
RGD:124715454
NCBI chr 4:104,924,116...104,928,353
Ensembl chr 4:104,900,833...104,928,358
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Dock8
dedicator of cytokinesis 8
severity
ISO
RGD
PMID:25776845
RGD:11055046
NCBI chr 1:232,075,468...232,268,830
Ensembl chr 1:232,075,588...232,268,833
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Igf2bp1
insulin-like growth factor 2 mRNA binding protein 1
ISO
RGD
PMID:30050136
RGD:40902865
NCBI chr10:81,405,021...81,447,814
Ensembl chr10:81,404,797...81,447,846
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Il18
interleukin 18
treatment
ISO
RGD
PMID:9971824
RGD:8655923
NCBI chr 8:59,802,072...59,829,275
Ensembl chr 8:59,809,592...59,831,286
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Il21
interleukin 21
treatment
ISO
mRNA:increased expression:spleen (mouse)
RGD
PMID:19233474 PMID:16406655
RGD:127285367 , RGD:127285372
NCBI chr 2:122,045,240...122,055,142
Ensembl chr 2:122,045,240...122,055,142
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Il33
interleukin 33
ISO
protein:increased expression:skin
RGD
PMID:26872602 PMID:26872602
RGD:39939003 , RGD:39939003
NCBI chr 1:237,115,478...237,149,897
Ensembl chr 1:237,115,572...237,150,901
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Irf5
interferon regulatory factor 5
susceptibility
ISO
associated with multiple sclerosis;DNA:SNP: :rs3807306 (human)
RGD
PMID:20861862
RGD:40924643
NCBI chr 4:59,092,914...59,104,596
Ensembl chr 4:59,081,357...59,112,552
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Mbl1
mannose binding lectin 1
ISO
protein:increased expression:serum:
RGD
PMID:15498041
RGD:8693727
NCBI chr16:17,063,232...17,069,271
Ensembl chr16:17,060,703...17,069,271
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Mbl2
mannose binding lectin 2
susceptibility disease_progression
ISO
DNA:polymorphism:cds:
RGD
PMID:19480845 PMID:15498041 PMID:15498041
RGD:8693725 , RGD:8693727 , RGD:8693727
NCBI chr 1:237,429,873...237,465,567
Ensembl chr 1:237,429,973...237,437,546
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Nectin1
nectin cell adhesion molecule 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10729168
NCBI chr 8:52,998,662...53,061,745
Ensembl chr 8:52,998,662...53,086,664
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Nectin2
nectin cell adhesion molecule 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10729168 PMID:11602758 PMID:30319691
NCBI chr 1:88,500,086...88,535,474
Ensembl chr 1:88,500,087...88,535,305
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Ripk3
receptor-interacting serine-threonine kinase 3
exacerbates
ISO
RGD
PMID:30050136 PMID:25316792
RGD:40902865 , RGD:127229943
NCBI chr15:33,253,071...33,262,025
Ensembl chr15:33,253,071...33,262,025
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Rpl30
ribosomal protein L30
ISO
protein:increased serine phosphorylation:ribosome
RGD
PMID:7588575
RGD:11039399
NCBI chr 7:67,533,420...67,536,555
Ensembl chr 7:67,465,332...67,536,555
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Apoe
apolipoprotein E
susceptibility
ISO
DNA:polymorphism:exon:
RGD
PMID:11118260
RGD:7771554
NCBI chr 1:88,481,889...88,485,816
Ensembl chr 1:88,481,385...88,485,855
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Aqp4
aquaporin 4
ISO
RGD
PMID:17454447
RGD:8698664
NCBI chr18:6,782,389...6,799,034
Ensembl chr18:6,782,389...6,799,098
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Calca
calcitonin-related polypeptide alpha
treatment
IDA
RGD
PMID:22761571
RGD:7240516
NCBI chr 1:178,312,636...178,317,588
Ensembl chr 1:178,312,638...178,317,529
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Calcr
calcitonin receptor
treatment
IDA
RGD
PMID:22761571
RGD:7240516
NCBI chr 4:32,615,955...32,691,075
Ensembl chr 4:32,615,958...32,691,075
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Ccr2
C-C motif chemokine receptor 2
ISO
RGD
PMID:22377584
RGD:8661752
NCBI chr 8:132,611,883...132,619,106
Ensembl chr 8:132,611,410...132,620,059
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Ccr5
C-C motif chemokine receptor 5
ISO
RGD
PMID:23391218
RGD:8551839
NCBI chr 8:132,629,097...132,660,980
Ensembl chr 8:132,629,683...132,637,594
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Cx3cr1
C-X3-C motif chemokine receptor 1
ISO
RGD
PMID:22377584
RGD:8661752
NCBI chr 8:128,661,294...128,679,048
Ensembl chr 8:128,654,833...128,685,983
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Gdnf
glial cell derived neurotrophic factor
ISO
mRNA:increased expression:brain:
RGD
PMID:15950786
RGD:8657070
NCBI chr 2:58,621,327...58,647,242
Ensembl chr 2:58,621,327...58,647,240
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Il1rl1
interleukin 1 receptor-like 1
severity
ISO
RGD
PMID:26872602
RGD:39939003
NCBI chr 9:50,157,326...50,222,888
Ensembl chr 9:50,204,551...50,222,891
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Irf3
interferon regulatory factor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 1:104,616,608...104,621,402
Ensembl chr 1:104,616,469...104,621,401
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Lta
lymphotoxin alpha
ISO
RGD
PMID:11145686
RGD:8548806
NCBI chr20:3,622,291...3,625,852
Ensembl chr20:3,623,527...3,625,533
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Mmp2
matrix metallopeptidase 2
ISO
protein:increased activity:brain
RGD
PMID:15364410
RGD:8547868
NCBI chr19:30,327,643...30,355,856
Ensembl chr19:30,327,643...30,355,856
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Mmp9
matrix metallopeptidase 9
treatment
ISO
protein:increased activity:brain
RGD
PMID:20483026 PMID:15364410
RGD:8547867 , RGD:8547868
NCBI chr 3:174,103,474...174,111,434
Ensembl chr 3:174,084,123...174,111,442
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Stat4
signal transducer and activator of transcription 4
susceptibility
ISO
RGD
PMID:17266445
RGD:8661706
NCBI chr 9:56,964,617...57,080,523
Ensembl chr 9:56,911,523...57,077,346
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Ticam1
TIR domain containing adaptor molecule 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 9:1,189,717...1,197,730
Ensembl chr 9:1,172,963...1,196,892
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Tlr2
toll-like receptor 2
disease_progression
ISO IEP
RGD
PMID:14739339 PMID:20806060
RGD:8553026 , RGD:5130178
NCBI chr 2:171,499,189...171,504,831
Ensembl chr 2:171,497,060...171,520,194
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Tlr3
toll-like receptor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr16:53,554,916...53,572,321
Ensembl chr16:53,555,131...53,568,385
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Tlr4
toll-like receptor 4
IEP
RGD
PMID:20806060
RGD:5130178
NCBI chr 5:85,161,247...85,174,882
Ensembl chr 5:85,161,192...85,175,007
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Tlr9
toll-like receptor 9
resistance
IEP
mRNA:increased expression:cheek (rat)
RGD
PMID:20806060
RGD:5130178
NCBI chr 8:115,743,407...115,747,523
Ensembl chr 8:115,742,889...115,750,148
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Traf3
Tnf receptor-associated factor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 6:136,025,097...136,128,363
Ensembl chr 6:136,027,157...136,128,363
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Unc93b1
unc-93 homolog B1, TLR signaling regulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 1:210,596,639...210,607,579
Ensembl chr 1:210,573,288...210,607,579
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Vwf
von Willebrand factor
ISO
DNA:SNP:rs917859
RGD
PMID:27224245
RGD:617245059
NCBI chr 4:160,042,900...160,177,757
Ensembl chr 4:160,047,982...160,177,757
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Tbk1
TANK-binding kinase 1
ISO
ClinVar Annotator: match by term: HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 1
ClinVar
PMID:25700176 PMID:25803835 PMID:26476236 PMID:26581300 PMID:28492532
NCBI chr 7:58,963,319...58,996,357
Ensembl chr 7:58,963,325...58,996,357
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Tlr3
toll-like receptor 3
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1
ClinVar
PMID:9536098 PMID:16199547 PMID:17434873 PMID:17576681 PMID:17872438 PMID:19625408 PMID:19763152 PMID:20307669 PMID:20472559 PMID:20855885 PMID:21911422 PMID:22174453 PMID:22406018 PMID:24033266 PMID:25339207 PMID:25741868 PMID:26513235 PMID:27872624 PMID:28046022 PMID:28368532 PMID:28492532 PMID:29217828 PMID:29305044 PMID:31217193 PMID:31268141 PMID:32936395 PMID:33174085 PMID:34813006 More...
NCBI chr16:53,554,916...53,572,321
Ensembl chr16:53,555,131...53,568,385
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Unc93b1
unc-93 homolog B1, TLR signaling regulator
susceptibility
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1 | ClinVar Annotator: match by term: UNC93B1-related disorder
OMIM ClinVar
PMID:9536098 PMID:16199547 PMID:16973841 PMID:17576681 PMID:24033266 PMID:25741868 PMID:28492532 More...
NCBI chr 1:210,596,639...210,607,579
Ensembl chr 1:210,573,288...210,607,579
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Ticam1
TIR domain containing adaptor molecule 1
susceptibility
ISO
ClinVar Annotator: match by term: ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 6 | ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 4
OMIM ClinVar
PMID:22105173 PMID:24033266 PMID:25741868 PMID:26513235 PMID:28492532
NCBI chr 9:1,189,717...1,197,730
Ensembl chr 9:1,172,963...1,196,892
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Irf3
interferon regulatory factor 3
susceptibility
ISO
ClinVar Annotator: match by term: Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 7 | ClinVar Annotator: match by term: IRF3-related condition
OMIM ClinVar
PMID:25741868 PMID:26216125 PMID:26513235 PMID:28492532
NCBI chr 1:104,616,608...104,621,402
Ensembl chr 1:104,616,469...104,621,401
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Apoe
apolipoprotein E
treatment
ISO
RGD
PMID:18515564
RGD:7771550
NCBI chr 1:88,481,889...88,485,816
Ensembl chr 1:88,481,385...88,485,855
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Atm
ATM serine/threonine kinase
ameliorates
ISO
RGD
PMID:24370835
RGD:126781690
NCBI chr 8:62,724,939...62,829,040
Ensembl chr 8:62,727,291...62,828,629
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Ccl2
C-C motif chemokine ligand 2
severity
ISO
associated with Herpes Simplex, Type 1
RGD
PMID:16997857
RGD:8548890
NCBI chr10:67,503,077...67,504,875
Ensembl chr10:67,503,077...67,504,875
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Ccl20
C-C motif chemokine ligand 20
ISO
RGD
PMID:15287366
RGD:7483593
NCBI chr 9:91,837,139...91,839,736
Ensembl chr 9:91,836,946...91,839,736
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Ccr5
C-C motif chemokine receptor 5
ISO
RGD
PMID:18798077 PMID:16476970
RGD:8551819 , RGD:8551837
NCBI chr 8:132,629,097...132,660,980
Ensembl chr 8:132,629,683...132,637,594
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Ccr6
C-C motif chemokine receptor 6
ISO
RGD
PMID:15287366
RGD:7483593
NCBI chr 1:55,022,037...55,055,857
Ensembl chr 1:55,021,833...55,046,059
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Cd274
CD274 molecule
ISO
RGD
PMID:16253242
RGD:41410794
NCBI chr 1:236,526,215...236,549,956
Ensembl chr 1:236,496,463...236,549,951
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Cxcr3
C-X-C motif chemokine receptor 3
ISO
RGD
PMID:18798077
RGD:8551819
NCBI chr X:70,884,293...70,886,944
Ensembl chr X:70,883,958...70,886,871
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Eif2ak2
eukaryotic translation initiation factor 2-alpha kinase 2
treatment
ISO
RGD
PMID:15670795
RGD:40902819
NCBI chr 6:21,941,147...21,977,115
Ensembl chr 6:21,952,631...21,977,116
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Ifnb1
interferon beta 1
treatment
ISO
RGD
PMID:15670795
RGD:40902819
NCBI chr 5:108,066,650...108,067,487
Ensembl chr 5:108,066,650...108,067,487
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Ifng
interferon gamma
ISO
RGD
PMID:12162877
RGD:8157603
NCBI chr 7:55,789,180...55,793,216
Ensembl chr 7:55,761,736...55,793,216
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Il10
interleukin 10
treatment
ISO
RGD
PMID:22467659
RGD:7364834
NCBI chr13:45,024,921...45,029,586
Ensembl chr13:45,025,087...45,029,580
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Il1b
interleukin 1 beta
ISO
mRNA:increased expression:cornea
RGD
PMID:10624423
RGD:7401196
NCBI chr 3:137,030,200...137,036,581
Ensembl chr 3:137,030,205...137,036,601
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Il1rn
interleukin 1 receptor antagonist
treatment
ISO
human protein in a mouse model
RGD
PMID:15258192
RGD:8549793
NCBI chr 3:27,509,836...27,525,738
Ensembl chr 3:27,509,798...27,525,732
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Il21
interleukin 21
treatment
ISO
RGD
PMID:29370719 PMID:21204603
RGD:127285376 , RGD:127285545
NCBI chr 2:122,045,240...122,055,142
Ensembl chr 2:122,045,240...122,055,142
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Il23a
interleukin 23 subunit alpha
ISO
mRNA;increased expression:trigeminal ganglion (mouse)
RGD
PMID:12162874
RGD:39457946
NCBI chr 7:1,306,320...1,308,434
Ensembl chr 7:1,306,320...1,308,434
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Kdr
kinase insert domain receptor
treatment
ISO
protein:increased expression:cornea:
RGD
PMID:16951377 PMID:16951377
RGD:8549742 , RGD:8549742
NCBI chr14:32,572,031...32,615,204
Ensembl chr14:32,572,049...32,615,192
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Rnasel
ribonuclease L
treatment
ISO
RGD
PMID:15670795
RGD:40902819
NCBI chr13:68,446,641...68,460,804
Ensembl chr13:68,446,882...68,459,557
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Stat4
signal transducer and activator of transcription 4
susceptibility
ISO
RGD
PMID:17266445
RGD:8661706
NCBI chr 9:56,964,617...57,080,523
Ensembl chr 9:56,911,523...57,077,346
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Tlr2
toll-like receptor 2
ISO
RGD
PMID:17686871
RGD:7794851
NCBI chr 2:171,499,189...171,504,831
Ensembl chr 2:171,497,060...171,520,194
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Tlr4
toll-like receptor 4
ISO
mRNA:increased expression:cornea:
RGD
PMID:17686871 PMID:17667620
RGD:7794851 , RGD:8552970
NCBI chr 5:85,161,247...85,174,882
Ensembl chr 5:85,161,192...85,175,007
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Tlr9
toll-like receptor 9
ISO
RGD
PMID:17686871
RGD:7794851
NCBI chr 8:115,743,407...115,747,523
Ensembl chr 8:115,742,889...115,750,148
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Tnf
tumor necrosis factor
ISO
mRNA:increased expression:cornea
RGD
PMID:10624423 PMID:12162877
RGD:7401196 , RGD:8157603
NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,626,532...3,629,303
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Cd28
Cd28 molecule
ISO
ClinVar Annotator: match by term: Immunodeficiency 123 with HPV-related verrucosis
OMIM ClinVar
NCBI chr 9:69,660,316...69,689,192
Ensembl chr 9:69,545,326...69,689,192
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Rhoh
ras homolog family member H
ISO
ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 4 | ClinVar Annotator: match by term: RHOH-related condition
OMIM ClinVar
PMID:22850876 PMID:25741868 PMID:28492532 PMID:38775840
NCBI chr14:42,694,860...42,725,690
Ensembl chr14:42,693,413...42,749,967
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Il7
interleukin 7
ISO
ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 5 | ClinVar Annotator: match by term: IL7-related condition
OMIM ClinVar
PMID:25741868 PMID:25981006 PMID:28492532 PMID:31900472 PMID:39352394
NCBI chr 2:96,142,523...96,186,282
Ensembl chr 2:96,142,092...96,187,389
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Traf3
Tnf receptor-associated factor 3
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3 | ClinVar Annotator: match by term: TRAF3 haploinsufficiency | ClinVar Annotator: match by term: TRAF3 related condition
OMIM ClinVar
PMID:9536098 PMID:17576681 PMID:20832341 PMID:25741868 PMID:28492532 PMID:31681265 PMID:35960817 PMID:36004314 PMID:39579173 More...
NCBI chr 6:136,025,097...136,128,363
Ensembl chr 6:136,027,157...136,128,363
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Tlr3
toll-like receptor 3
susceptibility
ISO
ClinVar Annotator: match by term: Immunodeficiency 83, susceptibility to viral infections
ClinVar OMIM
PMID:17872438 PMID:19625408 PMID:20472559 PMID:20855885 PMID:21911422 PMID:22174453 PMID:24033266 PMID:25339207 PMID:25741868 PMID:26513235 PMID:28046022 PMID:28368532 PMID:28492532 PMID:29217828 PMID:29305044 PMID:31217193 PMID:31268141 PMID:32936395 PMID:33174085 PMID:34813006 More...
NCBI chr16:53,554,916...53,572,321
Ensembl chr16:53,555,131...53,568,385
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Tlr2
toll-like receptor 2
ISO
protein:increased expression,altered expression:cytoplasm,membrane, nucleus:
RGD
PMID:24617037
RGD:8553046
NCBI chr 2:171,499,189...171,504,831
Ensembl chr 2:171,497,060...171,520,194
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Ccl20
C-C motif chemokine ligand 20
ISO
protein:decreased expression:skin
RGD
PMID:21715145
RGD:7483622
NCBI chr 9:91,837,139...91,839,736
Ensembl chr 9:91,836,946...91,839,736
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Clu
clusterin
ISO
RGD
PMID:11085517
RGD:8746700
NCBI chr15:44,336,619...44,375,861
Ensembl chr15:44,359,914...44,375,860
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Fgf10
fibroblast growth factor 10
ISO
protein:increased expression:skin (mouse)
RGD
PMID:24582960
RGD:126928134
NCBI chr 2:52,533,939...52,610,980
Ensembl chr 2:52,533,939...52,610,980
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Mir21
microRNA 21
ameliorates
ISO
RGD
PMID:21646541
RGD:41404663
NCBI chr10:71,902,600...71,902,691
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Nrg1
neuregulin 1
ISO
DNA:hypermethylation:
RGD
PMID:31892232
RGD:39456089
NCBI chr16:65,954,084...67,007,484
Ensembl chr16:65,953,865...66,999,849
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Tlr2
toll-like receptor 2
ISO
protein:increased expression,altered expression:cytoplasm,membrane, nucleus:
RGD
PMID:24617037
RGD:8553046
NCBI chr 2:171,499,189...171,504,831
Ensembl chr 2:171,497,060...171,520,194
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Irf1
interferon regulatory factor 1
treatment
ISO
DNA:SNPs,haplotype: :rs839, rs9282763(human)
RGD
PMID:18454680
RGD:42722608
NCBI chr10:38,417,935...38,424,946
Ensembl chr10:38,417,148...38,424,947
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Mthfr
methylenetetrahydrofolate reductase
treatment
ISO
DNA:SNP:exon:rs1801133(human)
RGD
PMID:18454680
RGD:42722608
NCBI chr 5:163,748,346...163,768,141
Ensembl chr 5:163,748,321...163,768,105
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Cxcr4
C-X-C motif chemokine receptor 4
ISO ISS
DNA:frame shift, nonsense mutations:cds:1016_1017delCT,p.R334X,E343X(human) ClinVar Annotator: match by term: CXCR4-related condition | ClinVar Annotator: match by term: WHIM syndrome 1 OMIM:193670 CTD Direct Evidence: marker/mechanism
ClinVar MouseDO CTD OMIM RGD
PMID:12692554 PMID:15026312 PMID:15536153 PMID:16275383 PMID:16899028 PMID:17803866 PMID:18436740 PMID:19043667 PMID:19321197 PMID:19476565 PMID:19956569 PMID:20472031 PMID:20736454 PMID:21070597 PMID:21835955 PMID:22596258 PMID:22748845 PMID:23009155 PMID:23734232 PMID:23794067 PMID:24139496 PMID:25571909 PMID:25662009 PMID:25741868 PMID:27059040 PMID:28353164 PMID:28492532 PMID:29659363 PMID:30819232 PMID:31313072 PMID:31493092 PMID:32784523 PMID:32870250 PMID:33415666 PMID:33485325 PMID:34697698 PMID:34973340 PMID:35493524 PMID:35947323 PMID:36089616 PMID:36883568 PMID:38286463 PMID:39575248 PMID:12692554 More...
RGD:734860
NCBI chr13:42,630,383...42,634,288
Ensembl chr13:42,630,104...42,634,459
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