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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
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Accession:DOID:9000894 term browser 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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anogenital venereal wart term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccl20 chemokine (C-C motif) 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 		JBrowse link
G Cd8a CD8 antigen, alpha chain 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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...33,169,215
Ensembl chr14:33,099,855...33,169,115 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
epidermodysplasia verruciformis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 More... NCBI chr11:117,656,811...117,673,019
Ensembl chr11:117,656,814...117,673,024 		JBrowse link
G Tmc8 transmembrane channel-like gene family 8 ISO ClinVar Annotator: match by term: Epidermodysplasia verruciformis ClinVar PMID:9536098 PMID:10084299 PMID:12426567 PMID:16199547 PMID:17576681 More... NCBI chr11:117,672,396...117,683,963
Ensembl chr11:117,672,902...117,683,936 		JBrowse link
G 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 		JBrowse link
Epidermodysplasia Verruciformis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmc6 transmembrane channel-like gene family 6 ISO ClinVar Annotator: match by term: EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 1 OMIM
ClinVar		 PMID:9536098 PMID:12426567 PMID:15042430 PMID:17139267 PMID:17576681 More... NCBI chr11:117,656,811...117,673,019
Ensembl chr11:117,656,814...117,673,024 		JBrowse link
G 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 More... NCBI chr11:117,672,396...117,683,963
Ensembl chr11:117,672,902...117,683,936 		JBrowse link
Epidermodysplasia Verruciformis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmc6 transmembrane channel-like gene family 6 ISO ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 2 ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr11:117,656,811...117,673,019
Ensembl chr11:117,656,814...117,673,024 		JBrowse link
G Tmc8 transmembrane channel-like gene family 8 ISO ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 2 OMIM
ClinVar		 PMID:10084299 PMID:12426567 PMID:22158547 PMID:24033266 PMID:25741868 More... NCBI chr11:117,672,396...117,683,963
Ensembl chr11:117,672,902...117,683,936 		JBrowse link
Epidermodysplasia Verruciformis 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cib1 calcium and integrin binding 1 (calmyrin) ISO ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 3 OMIM
ClinVar		 PMID:228581 PMID:19702156 PMID:20982046 PMID:21196704 PMID:28492532 More... NCBI chr 7:79,876,904...79,882,553
Ensembl chr 7:79,876,895...79,882,561 		JBrowse link
Epidermodysplasia Verruciformis 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rhoh ras homolog family member H susceptibility ISO ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 4 ClinVar
OMIM		 PMID:22850876 NCBI chr 5:66,018,092...66,054,043
Ensembl chr 5:66,018,556...66,054,043 		JBrowse link
Epidermodysplasia Verruciformis 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 		JBrowse link
skin papilloma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccl20 chemokine (C-C motif) 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 		JBrowse link
G Clu clusterin IEP RGD PMID:11085517 RGD:8746700 NCBI chr14:66,205,932...66,218,997
Ensembl chr14:66,205,932...66,218,996 		JBrowse link
G Fgf10 fibroblast growth factor 10 IEP protein:increased expression:skin (mouse) RGD PMID:24582960 RGD:126928134 NCBI chr13:118,851,235...118,929,109
Ensembl chr13:118,806,327...118,928,651 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
WHIM syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cxcr4 chemokine (C-X-C motif) receptor 4 ISO
IEA		 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:17803866 More... RGD:734860 NCBI chr 1:128,515,936...128,520,036
Ensembl chr 1:128,515,936...128,520,030 		JBrowse link
G Dars aspartyl-tRNA synthetase 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 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15244
    sensory system disease 6360
      skin disease 3636
        Skin Neoplasms 265
          skin benign neoplasm 76
            Benign Skin Neoplasms, Epithelial 40
              skin papilloma + 40
Path 2
Term Annotations click to browse term
  disease 15244
    disease of anatomical entity 14892
      nervous system disease 12574
        sensory system disease 6360
          skin disease 3636
            Skin Neoplasms 265
              skin benign neoplasm 76
                Benign Skin Neoplasms, Epithelial 40
                  skin papilloma + 40
paths to the root