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: Benign Skin Neoplasms, Epithelial
Accession: DOID:9000894
browse the term
Definition: A benign proliferation or tumor of epithelial origin in the skin.
Synonyms: exact_synonym: Benign epithelial neoplasm of skin; Benign tumor of surface epithelium
primary_id: RDO:9000114
For additional species annotation, visit the
Alliance of Genome Resources .
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B9D2
B9 domain containing 2
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 1:112,621,832...112,627,726
Ensembl chr 1:112,621,633...112,643,885
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CCL20
C-C motif chemokine ligand 20
ISO
protein:decreased expression:skin
RGD
PMID:17545018
RGD:7483603
NCBI chr25:40,506,385...40,509,903
Ensembl chr25:40,506,753...40,509,709
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CD8A
CD8a molecule
ISO
mRNA:decreased expression:zone of skin (human)
RGD
PMID:25774455
RGD:36174028
NCBI chr17:38,396,022...38,400,508
Ensembl chr17:38,369,414...38,400,508
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CTLA4
cytotoxic T-lymphocyte associated protein 4
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr37:12,647,712...12,653,874
Ensembl chr37:12,634,563...12,653,874
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FOXP3
forkhead box P3
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr X:42,331,229...42,362,841
Ensembl chr X:42,344,108...42,350,758
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IL10
interleukin 10
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 7:5,933,285...5,937,057
Ensembl chr 7:5,933,285...5,937,057
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IL12B
interleukin 12B
treatment
ISO
protein:decreased expression:peripheral blood mononuclear cells (human)
RGD
PMID:16114559 PMID:23754510
RGD:40400714 RGD:7829774
NCBI chr 4:51,178,637...51,194,606
Ensembl chr 4:51,183,568...51,193,228
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IL2
interleukin 2
ISO
protein:decreased expression:peripheral blood mononuclear cells (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr19:17,750,780...17,756,394
Ensembl chr19:17,750,780...17,756,394
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IL21
interleukin 21
ISO
protein:decreased expression:blood serum (human)
RGD
PMID:31414711
RGD:127285371
NCBI chr19:17,641,833...17,651,275
Ensembl chr19:17,641,833...17,651,266
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IL4
interleukin 4
treatment
ISO
protein:increased expression:peripheral blood mononuclear cells (human)
RGD
PMID:16114559 PMID:23754510
RGD:40400714 RGD:7829774
NCBI chr11:20,972,693...20,981,539
Ensembl chr11:20,972,690...20,981,534
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IL6
interleukin 6
ISO
protein:decreased expression:peripheral blood mononuclear cells (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr14:36,474,268...36,478,519
Ensembl chr14:36,473,394...36,478,519
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KLRK1
killer cell lectin like receptor K1
ISO
mRNA,protein:decreased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr27:35,634,938...35,658,978
Ensembl chr27:35,639,280...35,658,882
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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 chr28:323,361...410,367
Ensembl chr28:368,513...406,401
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MYD88
MYD88 innate immune signal transduction adaptor
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr23:7,901,578...7,905,274
Ensembl chr23:7,901,250...7,904,534
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NCR1
natural cytotoxicity triggering receptor 1
ISO
mRNA,protein:decreased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 1:102,686,058...102,690,350
Ensembl chr 1:102,686,058...102,690,620
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PDCD1
programmed cell death 1
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr25:51,606,559...51,618,903
Ensembl chr25:51,608,173...51,618,723
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PTPN11
protein tyrosine phosphatase non-receptor type 11
ISO
protein:increased expression:foreskin
RGD
PMID:18543080
RGD:39128248
NCBI chr26:9,989,218...10,072,245
Ensembl chr26:9,989,425...10,067,481
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PTPN6
protein tyrosine phosphatase non-receptor type 6
ISO
protein:increased expression:foreskin
RGD
PMID:18543080
RGD:39128248
NCBI chr27:38,084,976...38,101,552
Ensembl chr27:38,084,980...38,101,937
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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 chr 9:45,891,368...45,902,768
Ensembl chr 9:45,891,410...45,902,765
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TLR2
toll like receptor 2
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr15:51,454,557...51,465,429
Ensembl chr15:51,454,695...51,465,241
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TLR3
toll like receptor 3
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr16:44,617,012...44,633,591
Ensembl chr16:44,550,846...44,653,247
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TLR4
toll like receptor 4
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr11:71,356,390...71,367,166
Ensembl chr11:71,356,390...71,367,165
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TLR7
toll like receptor 7
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr X:9,331,243...9,360,461
Ensembl chr X:9,314,815...9,359,603
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TLR8
toll like receptor 8
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr X:9,381,159...9,399,938
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TLR9
toll like receptor 9
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr20:37,529,322...37,547,117
Ensembl chr20:37,542,340...37,547,114 Ensembl chr20:37,542,340...37,547,114
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TNF
tumor necrosis factor
ISO
protein:increased expression:peripheral blood mononuclear cells (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425
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TNFRSF18
TNF receptor superfamily member 18
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 5:56,394,559...56,397,502
Ensembl chr 5:56,394,659...56,397,741
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TMC6
transmembrane channel like 6
ISO
ClinVar Annotator: match by term: Epidermodysplasia verruciformis
ClinVar
PMID:9536098 PMID:12426567 PMID:15042430 PMID:16199547 PMID:17139267 PMID:17576681 PMID:22158547 PMID:24033266 PMID:25741868 PMID:28492532 More...
NCBI chr 9:3,002,689...3,018,059
Ensembl chr 9:2,805,651...3,016,309
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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:16199547 PMID:17576681 PMID:22158547 PMID:24033266 PMID:25741868 PMID:28492532 More...
NCBI chr 9:2,989,095...2,999,702
Ensembl chr 9:2,990,419...2,999,778
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TNRC6C
trinucleotide repeat containing adaptor 6C
ISO
ClinVar Annotator: match by term: Epidermodysplasia verruciformis
ClinVar
PMID:28492532
NCBI chr 9:3,018,599...3,122,664
Ensembl chr 9:3,020,533...3,171,471
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TMC6
transmembrane channel like 6
ISO
ClinVar Annotator: match by term: EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 1
OMIM ClinVar
PMID:9536098 PMID:12426567 PMID:15042430 PMID:17139267 PMID:17576681 PMID:25741868 PMID:28492532 More...
NCBI chr 9:3,002,689...3,018,059
Ensembl chr 9:2,805,651...3,016,309
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TMC8
transmembrane channel like 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 chr 9:2,989,095...2,999,702
Ensembl chr 9:2,990,419...2,999,778
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TMC6
transmembrane channel like 6
ISO
ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 2
ClinVar
PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr 9:3,002,689...3,018,059
Ensembl chr 9:2,805,651...3,016,309
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TMC8
transmembrane channel like 8
ISO
ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 2
OMIM ClinVar
PMID:10084299 PMID:12426567 PMID:22158547 PMID:24033266 PMID:25741868 PMID:28492532 PMID:28646613 More...
NCBI chr 9:2,989,095...2,999,702
Ensembl chr 9:2,990,419...2,999,778
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CIB1
calcium and integrin binding 1
ISO
ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 3
OMIM ClinVar
PMID:228581 PMID:19702156 PMID:20982046 PMID:21196704 PMID:28492532 PMID:28646613 PMID:30068544 More...
NCBI chr 3:53,184,713...53,209,195
Ensembl chr 3:53,184,714...53,188,224
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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
NCBI chr 3:72,272,446...72,277,015
Ensembl chr 3:72,276,418...72,276,993
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IL7
interleukin 7
susceptibility
ISO
ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 5
OMIM ClinVar
PMID:25981006
NCBI chr29:26,384,493...26,422,586
Ensembl chr29:26,384,493...26,422,737
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CCL20
C-C motif chemokine ligand 20
ISO
protein:decreased expression:skin
RGD
PMID:21715145
RGD:7483622
NCBI chr25:40,506,385...40,509,903
Ensembl chr25:40,506,753...40,509,709
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CLU
clusterin
ISO
RGD
PMID:11085517
RGD:8746700
NCBI chr25:29,982,811...29,999,565
Ensembl chr25:29,982,811...29,999,563
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FGF10
fibroblast growth factor 10
ISO
protein:increased expression:skin (mouse)
RGD
PMID:24582960
RGD:126928134
NCBI chr 4:65,851,130...65,930,944
Ensembl chr 4:65,851,069...65,928,192
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MIR21
microRNA mir-21
ameliorates
ISO
RGD
PMID:21646541
RGD:41404663
NCBI chr 9:34,340,550...34,340,609
Ensembl chr 9:34,340,533...34,340,624
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NRG1
neuregulin 1
ISO
DNA:hypermethylation:
RGD
PMID:31892232
RGD:39456089
NCBI chr16:31,697,958...32,771,888
Ensembl chr16:31,706,851...32,771,932
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TLR2
toll like receptor 2
ISO
protein:increased expression,altered expression:cytoplasm,membrane, nucleus:
RGD
PMID:24617037
RGD:8553046
NCBI chr15:51,454,557...51,465,429
Ensembl chr15:51,454,695...51,465,241
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CXCR4
C-X-C motif chemokine receptor 4
ISO
ClinVar Annotator: match by term: WHIM syndrome 1 | ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis
OMIM ClinVar
PMID:12692554 PMID:15026312 PMID:15536153 PMID:16275383 PMID:17803866 PMID:18436740 PMID:19043667 PMID:19476565 PMID:19956569 PMID:20472031 PMID:20736454 PMID:21070597 PMID:22748845 PMID:23009155 PMID:23794067 PMID:25571909 PMID:25662009 PMID:25741868 PMID:28353164 PMID:28492532 PMID:29659363 PMID:30819232 PMID:31313072 PMID:31493092 More...
NCBI chr19:38,874,650...38,877,740
Ensembl chr19:38,874,145...38,877,740
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DARS1
aspartyl-tRNA synthetase 1
ISO
ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis
ClinVar
PMID:28492532
NCBI chr19:38,690,170...38,751,360
Ensembl chr19:38,668,527...38,751,310
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