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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:papillomavirus infectious disease
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Accession:DOID:11166 term browser browse the term
Definition:Papilloma virus infections commonly cause skin or mucous membrane growths (warts).
Synonyms:exact_synonym: Papillomavirus Infection;   papillomavirus infections
 narrow_synonym: chronic human papillomavirus infection;   human papilloma virus infection;   human papillomavirus infectious disease
 related_synonym: HPV18I1;   HPV18I2;   human papillomavirus type 18 integration site 1;   human papillomavirus type 18 integration site 2;   papillomavirus type 18 integration site 1;   papillomavirus type 18 integration site 2
 primary_id: MESH:D030361
 xref: EFO:0001668;   EFO:0010060
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
papillomavirus infectious disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAR adenosine deaminase RNA specific exacerbates IAGP associated with human immunodeficiency virus infectious disease;DNA:SNPs, haplotype:introns, 3' utr: multiple (human) RGD PMID:31882741 RGD:125097510 NCBI chr 1:154,582,057...154,627,997
Ensembl chr 1:154,581,695...154,628,013 		JBrowse link
G CASP8 caspase 8 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23358896 NCBI chr 2:201,233,463...201,287,711
Ensembl chr 2:201,233,443...201,361,836 		JBrowse link
G CCNA1 cyclin A1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23358896 NCBI chr13:36,431,517...36,442,870
Ensembl chr13:36,431,520...36,442,870 		JBrowse link
G CCNG1 cyclin G1 disease_progression IEP associated with cervix carcinoma; protein:increased expression:cervix (human) RGD PMID:16845792 RGD:2316022 NCBI chr 5:163,437,571...163,457,640
Ensembl chr 5:163,437,569...163,448,199 		JBrowse link
G CD274 CD274 molecule IEP associated with cervix uteri carcinoma in situ; protein:increased expression:dendritic cell RGD PMID:23521696 RGD:40822817 NCBI chr 9:5,450,542...5,470,554
Ensembl chr 9:5,450,503...5,470,566 		JBrowse link
G CDKN2A cyclin dependent kinase inhibitor 2A IEP associated with Cervix Neoplasms;protein:increased expression:uterine cervix
associated with Cervical Intraepithelial Neoplasms;protein:increased expression:uterine cervix		 RGD PMID:16406113 PMID:16415792 RGD:2296058, RGD:2296057 NCBI chr 9:21,967,752...21,995,324
Ensembl chr 9:21,967,752...21,995,301 		JBrowse link
G EGFR epidermal growth factor receptor disease_progression IEP associated with squamous cell carcinoma RGD PMID:31430224 RGD:38599177 NCBI chr 7:55,019,017...55,211,628
Ensembl chr 7:55,019,017...55,211,628 		JBrowse link
G FGFR3 fibroblast growth factor receptor 3 IAGP associated with head and neck squamous cell carcinoma;DNA:missense mutation:cds: p.S249C (human) RGD PMID:25056374 RGD:38500237 NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872 		JBrowse link
G FOXP3 forkhead box P3 susceptibility IAGP DNA:SNP::rs3761548(human) RGD PMID:31177386 RGD:38501104 NCBI chr  X:49,250,438...49,264,710
Ensembl chr  X:49,250,438...49,264,800 		JBrowse link
G GSTM1 glutathione S-transferase mu 1 IAGP DNA:deletion RGD PMID:16360200 RGD:2293831 NCBI chr 1:109,687,817...109,693,745
Ensembl chr 1:109,687,814...109,709,039 		JBrowse link
G HLA-DPB1 major histocompatibility complex, class II, DP beta 1 susceptibility IAGP associated with cervical cancer;DNA:polymorphism: :HLA-DPB1*040101 (human) RGD PMID:17349874 RGD:150429811 NCBI chr 6:33,075,990...33,089,696
Ensembl chr 6:33,075,936...33,089,696 		JBrowse link
G HLA-DRB1 major histocompatibility complex, class II, DR beta 1 susceptibility IAGP RGD PMID:12918070 PMID:19272325 PMID:12941545 RGD:2314694, RGD:2306228, RGD:2314693 NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848 		JBrowse link
G IL1RL1 interleukin 1 receptor like 1 IEP RGD PMID:30935248 RGD:39938848 NCBI chr 2:102,311,563...102,352,356
Ensembl chr 2:102,311,502...102,352,037 		JBrowse link
G MIR20A microRNA 20a IEP associated with oral squamous cell carcinoma RGD PMID:26781875 RGD:26884343 NCBI chr13:91,351,065...91,351,135
Ensembl chr13:91,351,065...91,351,135 		JBrowse link
G MIR21 microRNA 21 IEP RNA:increased expression:cervical cell RGD PMID:26010154 RGD:41404529 NCBI chr17:59,841,266...59,841,337
Ensembl chr17:59,841,266...59,841,337 		JBrowse link
G MTHFR methylenetetrahydrofolate reductase no_association IAGP DNA:transition, transversion:cds:g.677C>T, g.1298A>C (human) RGD PMID:23444906 RGD:38501058 NCBI chr 1:11,785,723...11,805,964
Ensembl chr 1:11,785,723...11,806,455 		JBrowse link
G MX1 MX dynamin like GTPase 1 exacerbates IEP protein:increased expression:body wart (human) RGD PMID:28736973 RGD:126777683 NCBI chr21:41,420,558...41,459,214
Ensembl chr21:41,420,020...41,470,071 		JBrowse link
G PTEN phosphatase and tensin homolog HEP associated with head and neck squamous cell carcinoma;protein:increased expression:oropharynx (human)
associated with tonsil cancer;protein:increased expression:tonsil (human)		 RGD PMID:28945300 PMID:24616007 RGD:127285601, RGD:127285613 NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930 		JBrowse link
G TLR3 toll like receptor 3 resistance IEP mRNA:increased expression:cervix epithelium (human) RGD PMID:20473890 RGD:5129102 NCBI chr 4:186,069,156...186,088,073
Ensembl chr 4:186,068,911...186,088,073 		JBrowse link
G TLR9 toll like receptor 9 resistance IEP mRNA:increased expression:cervix epithelium (human) RGD PMID:20473890 RGD:5129102 NCBI chr 3:52,221,080...52,225,645
Ensembl chr 3:52,221,080...52,225,645 		JBrowse link
G VAMP7 vesicle associated membrane protein 7 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23358896 NCBI chr  X:155,881,345...155,943,769
NCBI chr  Y:57,067,865...57,130,289
Ensembl chr  Y:57,067,865...57,130,289
Ensembl chr  X:57,067,865...57,130,289 		JBrowse link
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 IEP protein:decreased expression:skin RGD PMID:17545018 RGD:7483603 NCBI chr 2:227,813,842...227,817,556
Ensembl chr 2:227,805,739...227,817,564 		JBrowse link
G CD8A CD8 subunit alpha HEP mRNA:decreased expression:zone of skin (human) RGD PMID:25774455 RGD:36174028 NCBI chr 2:86,784,605...86,808,396
Ensembl chr 2:86,784,610...86,808,396 		JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 IEP mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 2:203,867,771...203,873,965
Ensembl chr 2:203,853,888...203,873,965 		JBrowse link
G FOXP3 forkhead box P3 IEP mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr  X:49,250,438...49,264,710
Ensembl chr  X:49,250,438...49,264,800 		JBrowse link
G IFNA6 interferon alpha 6 treatment IEP RGD PMID:25774455 RGD:36174028 NCBI chr 9:21,350,318...21,350,887
Ensembl chr 9:21,350,253...21,350,956 		JBrowse link
G IL10 interleukin 10 IEP mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541 		JBrowse link
G IL12B interleukin 12B treatment IEP protein:decreased expression:peripheral blood mononuclear cells (human) RGD PMID:16114559 PMID:23754510 RGD:7829774, RGD:40400714 NCBI chr 5:159,314,780...159,330,487
Ensembl chr 5:159,314,780...159,330,863 		JBrowse link
G IL2 interleukin 2 IEP protein:decreased expression:peripheral blood mononuclear cells (human) RGD PMID:23754510 RGD:40400714 NCBI chr 4:122,451,470...122,456,725
Ensembl chr 4:122,451,470...122,456,725 		JBrowse link
G IL21 interleukin 21 IEP protein:decreased expression:blood serum (human) RGD PMID:31414711 RGD:127285371 NCBI chr 4:122,610,108...122,621,066
Ensembl chr 4:122,610,108...122,621,066 		JBrowse link
G IL4 interleukin 4 treatment IEP protein:increased expression:peripheral blood mononuclear cells (human) RGD PMID:16114559 PMID:23754510 RGD:7829774, RGD:40400714 NCBI chr 5:132,673,989...132,682,678
Ensembl chr 5:132,673,986...132,682,678 		JBrowse link
G IL6 interleukin 6 IEP protein:decreased expression:peripheral blood mononuclear cells (human) RGD PMID:23754510 RGD:40400714 NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002 		JBrowse link
G KLRK1 killer cell lectin like receptor K1 IEP mRNA,protein:decreased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr12:10,372,353...10,390,041
Ensembl chr12:10,372,353...10,391,874 		JBrowse link
G MAPK8 mitogen-activated protein kinase 8 treatment HEP mRNA:increased expression:zone of skin (human) RGD PMID:25774455 RGD:36174028 NCBI chr10:48,306,677...48,439,360
Ensembl chr10:48,306,639...48,439,360 		JBrowse link
G MYD88 MYD88 innate immune signal transduction adaptor IEP mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 3:38,138,661...38,143,022
Ensembl chr 3:38,138,552...38,143,024 		JBrowse link
G NCR1 natural cytotoxicity triggering receptor 1 IEP mRNA,protein:decreased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr19:54,898,198...54,938,208
Ensembl chr19:54,906,148...54,916,140 		JBrowse link
G PDCD1 programmed cell death 1 IEP mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 2:241,849,884...241,858,894
Ensembl chr 2:241,849,884...241,858,894 		JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 IEP protein:increased expression:foreskin RGD PMID:18543080 RGD:39128248 NCBI chr12:112,418,947...112,509,918
Ensembl chr12:112,418,351...112,509,918 		JBrowse link
G PTPN6 protein tyrosine phosphatase non-receptor type 6 IEP protein:increased expression:foreskin RGD PMID:18543080 RGD:39128248 NCBI chr12:6,946,577...6,961,316
Ensembl chr12:6,946,468...6,961,316 		JBrowse link
G SERPINF1 serpin family F member 1 disease_progression IEP mRNA, protein:decreased expression:skin of body (human) RGD PMID:23569025 RGD:27226706 NCBI chr17:1,762,060...1,777,565
Ensembl chr17:1,762,029...1,777,565 		JBrowse link
G TGFB1 transforming growth factor beta 1 IEP mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922 		JBrowse link
G TLR2 toll like receptor 2 IEP mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 4:153,684,280...153,710,637
Ensembl chr 4:153,684,050...153,706,260 		JBrowse link
G TLR3 toll like receptor 3 IEP mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 4:186,069,156...186,088,073
Ensembl chr 4:186,068,911...186,088,073 		JBrowse link
G TLR4 toll like receptor 4 IEP mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 9:117,704,403...117,724,735
Ensembl chr 9:117,704,175...117,724,735 		JBrowse link
G TLR7 toll like receptor 7 IEP mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr  X:12,867,072...12,890,361
Ensembl chr  X:12,867,072...12,890,361 		JBrowse link
G TLR8 toll like receptor 8 IEP mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr  X:12,906,620...12,923,169
Ensembl chr  X:12,906,620...12,923,169 		JBrowse link
G TLR9 toll like receptor 9 IEP mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 3:52,221,080...52,225,645
Ensembl chr 3:52,221,080...52,225,645 		JBrowse link
G TNF tumor necrosis factor IEP protein:increased expression:peripheral blood mononuclear cells (human) RGD PMID:23754510 RGD:40400714 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336 		JBrowse link
G TNFRSF18 TNF receptor superfamily member 18 IEP mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 1:1,203,508...1,206,592
Ensembl chr 1:1,203,508...1,206,592 		JBrowse link
bowenoid papulosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BIRC2 baculoviral IAP repeat containing 2 IEP mRNA:increased expression:perianal skin (human) RGD PMID:20346172 RGD:152998971 NCBI chr11:102,347,214...102,378,670
Ensembl chr11:102,347,211...102,378,670 		JBrowse link
G BIRC3 baculoviral IAP repeat containing 3 IEP mRNA:increased expression:perianal skin (human) RGD PMID:20346172 RGD:152998971 NCBI chr11:102,317,484...102,339,403
Ensembl chr11:102,317,484...102,339,403 		JBrowse link
epidermodysplasia verruciformis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC130061783 ATAC-STARR-seq lymphoblastoid active region 12855 IAGP ClinVar Annotator: match by term: Epidermodysplasia verruciformis ClinVar PMID:28492532 NCBI chr17:78,121,180...78,121,239 JBrowse link
G LOC130061785 ATAC-STARR-seq lymphoblastoid active region 12857 IAGP ClinVar Annotator: match by term: Epidermodysplasia verruciformis ClinVar PMID:25741868 PMID:28492532 NCBI chr17:78,122,490...78,122,639 JBrowse link
G LOC130061786 ATAC-STARR-seq lymphoblastoid silent region 9039 IAGP ClinVar Annotator: match by term: Epidermodysplasia verruciformis ClinVar PMID:25741868 PMID:28492532 NCBI chr17:78,124,789...78,125,038 JBrowse link
G LOC130061792 ATAC-STARR-seq lymphoblastoid silent region 9043 IAGP ClinVar Annotator: match by term: Epidermodysplasia verruciformis ClinVar PMID:9536098 PMID:12426567 PMID:17576681 PMID:22158547 PMID:25741868 More... NCBI chr17:78,131,459...78,131,978 JBrowse link
G LOC130061793 ATAC-STARR-seq lymphoblastoid silent region 9044 IAGP ClinVar Annotator: match by term: Epidermodysplasia verruciformis ClinVar PMID:12426567 PMID:22158547 PMID:28492532 NCBI chr17:78,132,089...78,132,478 JBrowse link
G LOC130061795 ATAC-STARR-seq lymphoblastoid active region 12864 IAGP ClinVar Annotator: match by term: Epidermodysplasia verruciformis ClinVar PMID:9536098 PMID:12426567 PMID:16199547 PMID:17576681 PMID:22158547 More... NCBI chr17:78,138,134...78,138,303 JBrowse link
G TMC6 transmembrane channel like 6 EXP
IAGP		 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 chr17:78,107,397...78,132,427
Ensembl chr17:78,107,397...78,132,407 		JBrowse link
G TMC8 transmembrane channel like 8 IAGP ClinVar Annotator: match by term: Epidermodysplasia verruciformis ClinVar PMID:9536098 PMID:10084299 PMID:12426567 PMID:16045695 PMID:16199547 More... NCBI chr17:78,130,771...78,142,968
Ensembl chr17:78,130,770...78,142,968 		JBrowse link
G TNRC6C trinucleotide repeat containing adaptor 6C IAGP ClinVar Annotator: match by term: Epidermodysplasia verruciformis ClinVar PMID:28492532 NCBI chr17:77,957,557...78,108,835
Ensembl chr17:77,958,703...78,108,822 		JBrowse link
Epidermodysplasia Verruciformis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC130061785 ATAC-STARR-seq lymphoblastoid active region 12857 IAGP ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr17:78,122,490...78,122,639 JBrowse link
G LOC130061786 ATAC-STARR-seq lymphoblastoid silent region 9039 IAGP ClinVar Annotator: match by term: TMC6-related condition ClinVar PMID:25741868 PMID:28492532 NCBI chr17:78,124,789...78,125,038 JBrowse link
G LOC130061792 ATAC-STARR-seq lymphoblastoid silent region 9043 IAGP ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 1 ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 NCBI chr17:78,131,459...78,131,978 JBrowse link
G LOC130061795 ATAC-STARR-seq lymphoblastoid active region 12864 IAGP ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 1 ClinVar PMID:25741868 NCBI chr17:78,138,134...78,138,303 JBrowse link
G TMC6 transmembrane channel like 6 susceptibility IAGP ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 1
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 More... NCBI chr17:78,107,397...78,132,427
Ensembl chr17:78,107,397...78,132,407 		JBrowse link
G TMC8 transmembrane channel like 8 IAGP ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 1 ClinVar PMID:9536098 PMID:12426567 PMID:17576681 PMID:22158547 PMID:25741868 More... NCBI chr17:78,130,771...78,142,968
Ensembl chr17:78,130,770...78,142,968 		JBrowse link
Epidermodysplasia Verruciformis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC130061792 ATAC-STARR-seq lymphoblastoid silent region 9043 IAGP ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 2 ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 NCBI chr17:78,131,459...78,131,978 JBrowse link
G LOC130061795 ATAC-STARR-seq lymphoblastoid active region 12864 IAGP ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 2 ClinVar PMID:25741868 NCBI chr17:78,138,134...78,138,303 JBrowse link
G TMC6 transmembrane channel like 6 IAGP ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 2 ClinVar PMID:9536098 PMID:17576681 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr17:78,107,397...78,132,427
Ensembl chr17:78,107,397...78,132,407 		JBrowse link
G TMC8 transmembrane channel like 8 susceptibility IAGP ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 2
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:16199547 PMID:17576681 More... NCBI chr17:78,130,771...78,142,968
Ensembl chr17:78,130,770...78,142,968 		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 susceptibility IAGP ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 3 ClinVar
OMIM		 PMID:228581 PMID:19702156 PMID:20982046 PMID:21196704 PMID:25741868 More... NCBI chr15:90,229,975...90,265,759
Ensembl chr15:90,229,975...90,234,047 		JBrowse link
G LOC130057907 ATAC-STARR-seq lymphoblastoid silent region 6817 IAGP ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 3 ClinVar PMID:30068544 NCBI chr15:90,233,434...90,233,883 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 IAGP ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 4 ClinVar
OMIM		 PMID:22850876 PMID:25741868 PMID:28492532 NCBI chr 4:40,191,080...40,246,967
Ensembl chr 4:40,191,011...40,246,967 		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 IAGP ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 5 ClinVar
OMIM		 PMID:25981006 NCBI chr 8:78,675,044...78,805,463
Ensembl chr 8:78,675,743...78,805,523 		JBrowse link
IMMUNODEFICIENCY 123 WITH HPV-RELATED VERRUCOSIS term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CD28 CD28 molecule IAGP ClinVar Annotator: match by term: Immunodeficiency 123 with HPV-related verrucosis OMIM
ClinVar		 NCBI chr 2:203,706,482...203,738,912
Ensembl chr 2:203,706,517...203,739,756 		JBrowse link
Recurrent Respiratory Papillomatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CD274 CD274 molecule IEP protein:increased expression: larynx RGD PMID:22322668 RGD:40822813 NCBI chr 9:5,450,542...5,470,554
Ensembl chr 9:5,450,503...5,470,566 		JBrowse link
G FOXP3 forkhead box P3 susceptibility IAGP DNA:SNPs:promoter:rs5902434,rs2232365 (human) RGD PMID:28298239 RGD:38549360 NCBI chr  X:49,250,438...49,264,710
Ensembl chr  X:49,250,438...49,264,800 		JBrowse link
G HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 severity IAGP DNA:polymorphisms:cds:HLA-DQB1*0201, HLA-DQB1*0602 (human)
DNA:polymorphism: :HLA-DQB1*0602(human)		 RGD PMID:15336778 PMID:19861144 RGD:5147657, RGD:36174013 NCBI chr 6:32,659,467...32,666,657
Ensembl chr 6:32,659,467...32,668,383 		JBrowse link
G HLA-DRB1 major histocompatibility complex, class II, DR beta 1 severity IAGP DNA:polymorphisms:cds:HLA-DRB1*0301, HLA-DRB1*0102 (human) RGD PMID:15336778 RGD:5147657 NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848 		JBrowse link
G IL32 interleukin 32 IEP mRNA:decreased expression:blood serum (human) RGD PMID:24015634 RGD:150340746 NCBI chr16:3,065,403...3,069,530
Ensembl chr16:3,065,297...3,082,192 		JBrowse link
G KIR2DS1 killer cell immunoglobulin like receptor, two Ig domains and short cytoplasmic tail 1 severity IAGP RGD PMID:19861144 RGD:36174013
G KIR2DS5 killer cell immunoglobulin like receptor, two Ig domains and short cytoplasmic tail 5 severity IAGP RGD PMID:19861144 RGD:36174013
G KIR3DS1 killer cell immunoglobulin like receptor, three Ig domains and short cytoplasmic tail 1 severity IAGP RGD PMID:19861144 RGD:36174013
G NLRP1 NLR family pyrin domain containing 1 IAGP ClinVar Annotator: match by term: Respiratory papillomatosis, juvenile recurrent, congenital ClinVar
OMIM		 PMID:17377159 PMID:24033266 PMID:25741868 PMID:28492532 PMID:31484767 NCBI chr17:5,501,396...5,584,509
Ensembl chr17:5,499,415...5,619,424 		JBrowse link
G PDCD1 programmed cell death 1 IEP RGD PMID:22322668 RGD:40822813 NCBI chr 2:241,849,884...241,858,894
Ensembl chr 2:241,849,884...241,858,894 		JBrowse link
G TAP1 transporter 1, ATP binding cassette subfamily B member severity IAGP DNA:polymorphism:cds:p.D637G(human) RGD PMID:14976605 RGD:5147844 NCBI chr 6:32,845,209...32,853,704
Ensembl chr 6:32,845,209...32,853,816 		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 IEP protein:decreased expression:skin RGD PMID:21715145 RGD:7483622 NCBI chr 2:227,813,842...227,817,556
Ensembl chr 2:227,805,739...227,817,564 		JBrowse link
G CLU clusterin ISO RGD PMID:11085517 RGD:8746700 NCBI chr 8:27,596,917...27,614,700
Ensembl chr 8:27,596,917...27,614,700 		JBrowse link
G FGF10 fibroblast growth factor 10 ISO protein:increased expression:skin (mouse) RGD PMID:24582960 RGD:126928134 NCBI chr 5:44,300,247...44,389,420
Ensembl chr 5:44,300,247...44,389,706 		JBrowse link
G MIR21 microRNA 21 ameliorates ISO RGD PMID:21646541 RGD:41404663 NCBI chr17:59,841,266...59,841,337
Ensembl chr17:59,841,266...59,841,337 		JBrowse link
G NRG1 neuregulin 1 HEP DNA:hypermethylation: RGD PMID:31892232 RGD:39456089 NCBI chr 8:31,639,245...32,774,046
Ensembl chr 8:31,639,222...32,855,666 		JBrowse link
G TLR2 toll like receptor 2 IEP protein:increased expression,altered expression:cytoplasm,membrane, nucleus: RGD PMID:24617037 RGD:8553046 NCBI chr 4:153,684,280...153,710,637
Ensembl chr 4:153,684,050...153,706,260 		JBrowse link
WHIM syndrome 1 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 IAGP
ISS
EXP		 DNA:frame shift, nonsense mutations:cds:1016_1017delCT,p.R334X,E343X(human)
ClinVar Annotator: match by term: WHIM syndrome 1
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 More... RGD:734860 NCBI chr 2:136,114,349...136,118,149
Ensembl chr 2:136,114,349...136,119,177 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 97419
    disease by infectious agent 4423
      viral infectious disease 3242
        Tumor Virus Infections 247
          papillomavirus infectious disease 155
            Recurrent Respiratory Papillomatosis 11
            skin papilloma + 49
Path 2
Term Annotations click to browse term
  disease 97419
    disease of anatomical entity 91051
      Urogenital Diseases 13191
        Female Urogenital Diseases and Pregnancy Complications 5822
          Female Urogenital Diseases 4827
            female reproductive system disease 4824
              uterine disease 1354
                Uterine Neoplasms 1273
                  Uterine Cervical Neoplasms 506
                    papillomavirus infectious disease 155
                      Recurrent Respiratory Papillomatosis 11
                      skin papilloma + 49
paths to the root