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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 C-C motif chemokine ligand 20 ISO protein:decreased expression:skin RGD PMID:17545018 RGD:7483603 NCBI chr 9:88,918,359...88,921,017
Ensembl chr 9:88,918,433...88,921,001
JBrowse link
G Cd8a CD8a molecule ISO mRNA:decreased expression:zone of skin (human) RGD PMID:25774455 RGD:36174028 NCBI chr 4:99,217,640...99,243,352
Ensembl chr 4:99,239,115...99,243,351
JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 9:67,699,397...67,706,068
Ensembl chr 9:67,699,379...67,706,065
JBrowse link
G Foxp3 forkhead box P3 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr  X:15,753,175...15,768,648
Ensembl chr  X:15,753,175...15,768,522
JBrowse link
G Ifna1 interferon, alpha 1 treatment ISO RGD PMID:25774455 RGD:36174028 NCBI chr 5:106,951,822...106,952,908
Ensembl chr 5:106,952,082...106,952,792
JBrowse link
G Il10 interleukin 10 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
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 chr10:30,034,447...30,048,774
Ensembl chr10:30,038,709...30,048,085
JBrowse link
G Il2 interleukin 2 ISO protein:decreased expression:peripheral blood mononuclear cells (human) RGD PMID:23754510 RGD:40400714 NCBI chr 2:123,847,150...123,851,854
Ensembl chr 2:123,847,150...123,851,854
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 chr10:38,963,979...38,969,531
Ensembl chr10:38,963,979...38,969,531
JBrowse link
G Il6 interleukin 6 ISO protein:decreased expression:peripheral blood mononuclear cells (human) RGD PMID:23754510 RGD:40400714 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G Klrk1 killer cell lectin like receptor K1 ISO mRNA,protein:decreased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 4:163,392,652...163,403,735
Ensembl chr 4:163,393,217...163,403,653
JBrowse link
G Myd88 MYD88, innate immune signal transduction adaptor ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 8:128,022,512...128,027,462
Ensembl chr 8:128,022,473...128,026,841
JBrowse link
G Ncr1 natural cytotoxicity triggering receptor 1 ISO mRNA,protein:decreased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 1:73,178,917...73,226,504
Ensembl chr 1:73,179,013...73,226,777
JBrowse link
G Pdcd1 programmed cell death 1 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 9:101,305,742...101,319,937
Ensembl chr 9:101,307,764...101,319,845
Ensembl chr 9:101,307,764...101,319,845
JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO protein:increased expression:foreskin RGD PMID:18543080 RGD:39128248 NCBI chr12:40,895,515...40,955,999
Ensembl chr12:40,895,515...40,955,999
JBrowse link
G Ptpn6 protein tyrosine phosphatase, non-receptor type 6 ISO protein:increased expression:foreskin RGD PMID:18543080 RGD:39128248 NCBI chr 4:157,239,141...157,263,890
Ensembl chr 4:157,239,142...157,263,890
JBrowse link
G Serpinf1 serpin family F member 1 disease_progression ISO mRNA, protein:decreased expression:skin of body (human) RGD PMID:23569025 RGD:27226706 NCBI chr10:62,241,750...62,254,145
Ensembl chr10:62,241,756...62,254,287
JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
JBrowse link
G Tlr2 toll-like receptor 2 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 2:182,840,171...182,846,061
Ensembl chr 2:182,840,727...182,846,061
JBrowse link
G Tlr3 toll-like receptor 3 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr16:50,016,466...50,031,011
Ensembl chr16:50,016,857...50,031,214
JBrowse link
G Tlr4 toll-like receptor 4 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052
JBrowse link
G Tlr7 toll-like receptor 7 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr  X:28,486,836...28,513,004
Ensembl chr  X:28,486,869...28,512,957
JBrowse link
G Tlr8 toll-like receptor 8 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr  X:28,539,158...28,562,803
Ensembl chr  X:28,539,158...28,562,803
JBrowse link
G Tlr9 toll-like receptor 9 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 8:114,916,122...114,920,171
Ensembl chr 8:114,916,122...114,920,171
JBrowse link
G Tnf tumor necrosis factor ISO protein:increased expression:peripheral blood mononuclear cells (human) RGD PMID:23754510 RGD:40400714 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Tnfrsf18 TNF receptor superfamily member 18 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 5:173,459,371...173,463,980
Ensembl chr 5:173,460,354...173,463,140
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 6 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Epidermodysplasia verruciformis
CTD
ClinVar
PMID:15042430 PMID:17139267 PMID:25741868 PMID:28492532 NCBI chr10:106,766,857...106,783,004 JBrowse link
G Tmc8 transmembrane channel-like 8 ISO ClinVar Annotator: match by term: Epidermodysplasia verruciformis ClinVar PMID:12426567 PMID:22158547 PMID:25741868 PMID:28492532 NCBI chr10:106,784,819...106,795,307
Ensembl chr10:106,785,077...106,795,299
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 6 ISO ClinVar Annotator: match by term: EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 1 ClinVar
OMIM
PMID:12426567 PMID:15042430 PMID:17139267 PMID:25741868 PMID:28492532 NCBI chr10:106,766,857...106,783,004 JBrowse link
G Tmc8 transmembrane channel-like 8 ISO ClinVar Annotator: match by term: EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr10:106,784,819...106,795,307
Ensembl chr10:106,785,077...106,795,299
JBrowse link
Epidermodysplasia Verruciformis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmc8 transmembrane channel-like 8 ISO ClinVar Annotator: match by term: EPIDERMODYSPLASIA VERRUCIFORMIS 2
ClinVar Annotator: match by term: EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 2
ClinVar
OMIM
PMID:10084299 PMID:12426567 PMID:28646613 NCBI chr10:106,784,819...106,795,307
Ensembl chr10:106,785,077...106,795,299
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 ISO ClinVar Annotator: match by term: EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 3 ClinVar
OMIM
PMID:228581 PMID:19702156 PMID:20982046 PMID:21196704 PMID:28646613 PMID:30068544 NCBI chr 1:142,014,962...142,020,461
Ensembl chr 1:142,014,958...142,020,525
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 chr14:43,961,756...43,992,587
Ensembl chr14:43,961,756...43,992,587
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 2:96,427,884...96,474,979
Ensembl chr 2:96,439,286...96,474,977
JBrowse link
skin papilloma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccl20 C-C motif chemokine ligand 20 ISO protein:decreased expression:skin RGD PMID:21715145 RGD:7483622 NCBI chr 9:88,918,359...88,921,017
Ensembl chr 9:88,918,433...88,921,001
JBrowse link
G Clu clusterin ISO RGD PMID:11085517 RGD:8746700 NCBI chr15:42,626,612...42,665,858
Ensembl chr15:42,640,146...42,665,857
JBrowse link
G Mir21 microRNA 21 ameliorates ISO RGD PMID:21646541 RGD:41404663 NCBI chr10:73,902,210...73,902,301
Ensembl chr10:73,902,210...73,902,301
JBrowse link
G Nrg1 neuregulin 1 ISO DNA:hypermethylation: RGD PMID:31892232 RGD:39456089 NCBI chr16:62,969,573...64,065,063
Ensembl chr16:63,837,216...64,057,434
JBrowse link
G Tlr2 toll-like receptor 2 ISO protein:increased expression,altered expression:cytoplasm,membrane, nucleus: RGD PMID:24617037 RGD:8553046 NCBI chr 2:182,840,171...182,846,061
Ensembl chr 2:182,840,727...182,846,061
JBrowse link
WHIM syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cxcr4 C-X-C motif chemokine receptor 4 ISO DNA:frame shift, nonsense mutations:cds:1016_1017delCT,p.R334X,E343X(human)
ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:193670
ClinVar
CTD
OMIM
PMID:12692554 PMID:15536153 PMID:16899028 PMID:18436740 PMID:19956569 PMID:23734232 PMID:23794067 PMID:25662009 PMID:25741868 PMID:28492532, PMID:12692554 RGD:734860 NCBI chr13:45,314,952...45,318,856
Ensembl chr13:45,314,933...45,318,878
JBrowse link
G Dars1 aspartyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis ClinVar PMID:28492532 NCBI chr13:45,074,067...45,127,815
Ensembl chr13:45,074,072...45,127,815
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16158
    sensory system disease 5201
      skin disease 2722
        Skin Neoplasms 247
          skin benign neoplasm 70
            Benign Skin Neoplasms, Epithelial 36
              skin papilloma + 36
Path 2
Term Annotations click to browse term
  disease 16158
    disease of anatomical entity 15408
      nervous system disease 11007
        sensory system disease 5201
          skin disease 2722
            Skin Neoplasms 247
              skin benign neoplasm 70
                Benign Skin Neoplasms, Epithelial 36
                  skin papilloma + 36
paths to the root