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: skin papilloma
Accession: DOID:3178
browse the term
Definition: A skin benign neoplasm that is composed of epithelial cells and a fibrous stalk. (DO)
Synonyms: exact_synonym: cutaneous papilloma; papilloma of skin; verruca; verrucas; wart; warts
primary_id: MESH:D014860
xref: NCI:C4614
For additional species annotation, visit the
Alliance of Genome Resources .
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Ccl20
C-C motif chemokine ligand 20
ISO
protein:decreased expression:skin
RGD
PMID:21715145
RGD:7483622
NCBI chr 1:83,094,487...83,096,888
Ensembl chr 1:83,094,487...83,096,888
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Clu
clusterin
IEP
RGD
PMID:11085517
RGD:8746700
NCBI chr14:66,206,093...66,218,992
Ensembl chr14:66,205,932...66,218,996
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Fgf10
fibroblast growth factor 10
IEP
protein:increased expression:skin (mouse)
RGD
PMID:24582960
RGD:126928134
NCBI chr13:118,851,199...118,928,651
Ensembl chr13:118,806,327...118,928,651
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Mir21a
microRNA 21a
ameliorates
IMP
RGD
PMID:21646541
RGD:41404663
NCBI chr11:86,474,893...86,474,984
Ensembl chr11:86,474,893...86,474,984
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Nrg1
neuregulin 1
ISO
DNA:hypermethylation:
RGD
PMID:31892232
RGD:39456089
NCBI chr 8:32,299,493...33,381,858
Ensembl chr 8:32,304,579...33,374,825 Ensembl chr 8:32,304,579...33,374,825
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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 3:83,743,579...83,749,045
Ensembl chr 3:83,743,579...83,749,074
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Ccl20
C-C motif chemokine ligand 20
ISO
protein:decreased expression:skin
RGD
PMID:17545018
RGD:7483603
NCBI chr 1:83,094,487...83,096,888
Ensembl chr 1:83,094,487...83,096,888
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Cd8a
CD8 subunit alpha
ISO
mRNA:decreased expression:zone of skin (human)
RGD
PMID:25774455
RGD:36174028
NCBI chr 6:71,350,411...71,356,155
Ensembl chr 6:71,350,411...71,356,157
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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 1:60,948,184...60,954,991
Ensembl chr 1:60,926,159...60,954,991
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Foxp3
forkhead box P3
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr X:7,445,915...7,461,482
Ensembl chr X:7,439,883...7,461,484
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Ifna16
interferon alpha 16
treatment
ISO
RGD
PMID:25774455
RGD:36174028
NCBI chr 4:88,594,524...88,595,093
Ensembl chr 4:88,594,152...88,595,161
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Ifna6
interferon alpha 6
treatment
ISO
RGD
PMID:25774455
RGD:36174028
NCBI chr 4:88,745,627...88,746,269
Ensembl chr 4:88,745,653...88,746,222
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Il10
interleukin 10
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 1:130,947,459...130,952,707
Ensembl chr 1:130,947,582...130,952,711
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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 chr11:44,290,890...44,305,504
Ensembl chr11:44,290,890...44,304,860
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Il2
interleukin 2
ISO
protein:decreased expression:peripheral blood mononuclear cells (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 3:37,174,862...37,180,103
Ensembl chr 3:37,174,672...37,180,108
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Il21
interleukin 21
ISO
protein:decreased expression:blood serum (human)
RGD
PMID:31414711
RGD:127285371
NCBI chr 3:37,276,908...37,286,785
Ensembl chr 3:37,276,908...37,286,785
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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 chr11:53,503,287...53,509,492
Ensembl chr11:53,493,809...53,509,496
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Il6
interleukin 6
ISO
protein:decreased expression:peripheral blood mononuclear cells (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 5:30,218,112...30,224,973
Ensembl chr 5:30,218,112...30,224,979
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Klrk1
killer cell lectin-like receptor subfamily K, member 1
ISO
mRNA,protein:decreased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 6:129,587,286...129,600,863
Ensembl chr 6:129,587,286...129,600,827
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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 chr14:33,099,855...33,169,213
Ensembl chr14:33,099,855...33,169,115
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Myd88
myeloid differentiation primary response gene 88
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 9:119,165,000...119,169,084
Ensembl chr 9:119,165,000...119,170,477
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Ncr1
natural cytotoxicity triggering receptor 1
ISO
mRNA,protein:decreased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 7:4,340,714...4,348,183
Ensembl chr 7:4,340,723...4,348,163
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Pdcd1
programmed cell death 1
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 1:93,966,027...93,980,278
Ensembl chr 1:93,966,027...93,980,278
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Ptpn11
protein tyrosine phosphatase, non-receptor type 11
ISO
protein:increased expression:foreskin
RGD
PMID:18543080
RGD:39128248
NCBI chr 5:121,268,596...121,329,460
Ensembl chr 5:121,268,596...121,329,460
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Ptpn6
protein tyrosine phosphatase, non-receptor type 6
ISO
protein:increased expression:foreskin
RGD
PMID:18543080
RGD:39128248
NCBI chr 6:124,697,670...124,715,672
Ensembl chr 6:124,697,670...124,715,677
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Serpinf1
serine (or cysteine) peptidase inhibitor, clade F, member 1
disease_progression
ISO
mRNA, protein:decreased expression:skin of body (human)
RGD
PMID:23569025
RGD:27226706
NCBI chr11:75,300,855...75,313,449
Ensembl chr11:75,300,595...75,313,527
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Tgfb1
transforming growth factor, beta 1
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 7:25,386,406...25,404,503
Ensembl chr 7:25,386,427...25,404,502
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Tlr2
toll-like receptor 2
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 3:83,743,579...83,749,045
Ensembl chr 3:83,743,579...83,749,074
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Tlr3
toll-like receptor 3
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 8:45,848,702...45,864,112
Ensembl chr 8:45,848,702...45,864,117
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Tlr4
toll-like receptor 4
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 4:66,745,788...66,765,338
Ensembl chr 4:66,745,821...66,848,521
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Tlr7
toll-like receptor 7
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr X:166,086,376...166,113,570
Ensembl chr X:166,087,925...166,113,554
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Tlr8
toll-like receptor 8
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr X:166,024,119...166,047,325
Ensembl chr X:166,025,692...166,047,325
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Tlr9
toll-like receptor 9
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 9:106,099,797...106,104,075
Ensembl chr 9:106,099,797...106,104,082
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Tnf
tumor necrosis factor
ISO
protein:increased expression:peripheral blood mononuclear cells (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983
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Tnfrsf18
tumor necrosis factor receptor superfamily, member 18
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 4:156,110,779...156,113,351
Ensembl chr 4:156,110,621...156,113,352
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Birc2
baculoviral IAP repeat-containing 2
ISO
mRNA:increased expression:perianal skin (human)
RGD
PMID:20346172
RGD:152998971
NCBI chr 9:7,818,227...7,837,123
Ensembl chr 9:7,818,228...7,837,065
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Birc3
baculoviral IAP repeat-containing 3
ISO
mRNA:increased expression:perianal skin (human)
RGD
PMID:20346172
RGD:152998971
NCBI chr 9:7,848,698...7,873,199
Ensembl chr 9:7,848,700...7,873,187
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Tmc6
transmembrane channel-like gene family 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:22158547 PMID:24033266 PMID:25741868 PMID:28492532 PMID:36268689 More...
NCBI chr11:117,656,811...117,673,019
Ensembl chr11:117,656,814...117,673,024
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Tmc8
transmembrane channel-like gene family 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 chr11:117,672,396...117,683,963
Ensembl chr11:117,672,902...117,683,936
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Tnrc6c
trinucleotide repeat containing 6C
ISO
ClinVar Annotator: match by term: Epidermodysplasia verruciformis
ClinVar
PMID:28492532
NCBI chr11:117,544,529...117,654,265
Ensembl chr11:117,545,115...117,654,265
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Tmc6
transmembrane channel-like gene family 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 chr11:117,656,811...117,673,019
Ensembl chr11:117,656,814...117,673,024
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Tmc8
transmembrane channel-like gene family 8
ISO
ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 1
ClinVar
PMID:9536098 PMID:12426567 PMID:17576681 PMID:22158547 PMID:25741868 PMID:28492532 More...
NCBI chr11:117,672,396...117,683,963
Ensembl chr11:117,672,902...117,683,936
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Tmc6
transmembrane channel-like gene family 6
ISO
ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 2
ClinVar
PMID:9536098 PMID:17576681 PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr11:117,656,811...117,673,019
Ensembl chr11:117,656,814...117,673,024
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Tmc8
transmembrane channel-like gene family 8
susceptibility
ISO
ClinVar Annotator: match by term: Epidermodysplasia verruciformis 2 | ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 2
ClinVar OMIM
PMID:9536098 PMID:10084299 PMID:12426567 PMID:17576681 PMID:22158547 PMID:24033266 PMID:25741868 PMID:28492532 PMID:28646613 More...
NCBI chr11:117,672,396...117,683,963
Ensembl chr11:117,672,902...117,683,936
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Cib1
calcium and integrin binding 1
susceptibility
ISO
ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 3
ClinVar OMIM
PMID:228581 PMID:19702156 PMID:20982046 PMID:21196704 PMID:28492532 PMID:28646613 PMID:30068544 More...
NCBI chr 7:79,876,904...79,882,367
Ensembl chr 7:79,876,895...79,882,561
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Rhoh
ras homolog family member H
susceptibility
ISO
ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 4
OMIM ClinVar
PMID:22850876 PMID:25741868 PMID:28492532
NCBI chr 5:66,018,092...66,054,043
Ensembl chr 5:66,018,556...66,054,043
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Il7
interleukin 7
susceptibility
ISO
ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 5
OMIM ClinVar
PMID:25981006
NCBI chr 3:7,637,088...7,678,820
Ensembl chr 3:7,635,054...7,678,820
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Cxcr4
C-X-C motif chemokine receptor 4
ISO IAGP
ClinVar Annotator: match by term: CXCR4-related condition | ClinVar Annotator: match by term: WHIM syndrome 1 | ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis OMIM:193670 CTD Direct Evidence: marker/mechanism DNA:frame shift, nonsense mutations:cds:1016_1017delCT,p.R334X,E343X(human)
OMIM ClinVar MouseDO CTD RGD
PMID:12692554 PMID:15026312 PMID:15536153 PMID:16275383 PMID:16899028 PMID:17803866 PMID:18436740 PMID:19043667 PMID:19476565 PMID:19956569 PMID:20472031 PMID:20736454 PMID:21070597 PMID:22748845 PMID:23009155 PMID:23734232 PMID:23794067 PMID:25571909 PMID:25662009 PMID:25741868 PMID:28353164 PMID:28492532 PMID:29659363 PMID:30819232 PMID:31313072 PMID:31493092 PMID:32784523 PMID:34573280 PMID:35947323 PMID:36089616 PMID:12692554 More...
RGD:734860
NCBI chr 1:128,515,936...128,520,036
Ensembl chr 1:128,515,936...128,520,030
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Dars1
aspartyl-tRNA synthetase 1
ISO
ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis
ClinVar
PMID:28492532
NCBI chr 1:128,291,444...128,345,153
Ensembl chr 1:128,291,444...128,345,105
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Lct
lactase
ISO
ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis
ClinVar
PMID:28492532
NCBI chr 1:128,212,493...128,256,055
Ensembl chr 1:128,212,493...128,256,055
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Mcm6
minichromosome maintenance complex component 6
ISO
ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis
ClinVar
PMID:28492532
NCBI chr 1:128,259,312...128,287,442
Ensembl chr 1:128,259,327...128,287,401
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Mir128-1
microRNA 128-1
ISO
ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis
ClinVar
PMID:28492532
NCBI chr 1:128,130,098...128,130,167
Ensembl chr 1:128,130,098...128,130,167
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R3hdm1
R3H domain containing 1
ISO
ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis
ClinVar
PMID:28492532
NCBI chr 1:128,031,016...128,165,475
Ensembl chr 1:128,031,038...128,165,473
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Rab3gap1
RAB3 GTPase activating protein subunit 1
ISO
ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis
ClinVar
PMID:28492532
NCBI chr 1:127,796,492...127,871,612
Ensembl chr 1:127,796,510...127,871,605
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Ubxn4
UBX domain protein 4
ISO
ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis
ClinVar
PMID:28492532
NCBI chr 1:128,171,635...128,207,115
Ensembl chr 1:128,171,701...128,207,115
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Zranb3
zinc finger, RAN-binding domain containing 3
ISO
ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis
ClinVar
PMID:28492532
NCBI chr 1:127,881,916...128,030,799
Ensembl chr 1:127,881,921...128,030,784
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