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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 ISO associated with human immunodeficiency virus infectious disease;DNA:SNPs, haplotype:introns, 3' utr: multiple (human) RGD PMID:31882741 RGD:125097510 NCBI chr 3:89,622,321...89,660,756
Ensembl chr 3:89,622,329...89,660,753
JBrowse link
G Casp8 caspase 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23358896 NCBI chr 1:58,834,553...58,886,663
Ensembl chr 1:58,834,533...58,886,662
JBrowse link
G Ccna1 cyclin A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23358896 NCBI chr 3:54,952,890...54,965,055
Ensembl chr 3:54,952,890...54,962,922
JBrowse link
G Ccng1 cyclin G1 disease_progression ISO associated with cervix carcinoma; protein:increased expression:cervix (human) RGD PMID:16845792 RGD:2316022 NCBI chr11:40,639,379...40,646,044
Ensembl chr11:40,639,379...40,646,138
JBrowse link
G Cd274 CD274 antigen ISO associated with cervix uteri carcinoma in situ; protein:increased expression:dendritic cell RGD PMID:23521696 RGD:40822817 NCBI chr19:29,339,428...29,365,495
Ensembl chr19:29,344,855...29,365,495
JBrowse link
G Cdkn2a cyclin dependent kinase inhibitor 2A ISO associated with Cervical Intraepithelial Neoplasms;protein:increased expression:uterine cervix
associated with Cervix Neoplasms;protein:increased expression:uterine cervix
RGD PMID:16415792 PMID:16406113 RGD:2296057, RGD:2296058 NCBI chr 4:89,192,710...89,212,856
Ensembl chr 4:89,192,708...89,212,890
JBrowse link
G Egfr epidermal growth factor receptor disease_progression ISO associated with squamous cell carcinoma RGD PMID:31430224 RGD:38599177 NCBI chr11:16,700,153...16,868,158
Ensembl chr11:16,702,203...16,868,158
JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO associated with head and neck squamous cell carcinoma;DNA:missense mutation:cds: p.S249C (human) RGD PMID:25056374 RGD:38500237 NCBI chr 5:33,879,068...33,894,412
Ensembl chr 5:33,879,018...33,894,412
JBrowse link
G Foxp3 forkhead box P3 susceptibility ISO DNA:SNP::rs3761548(human) RGD PMID:31177386 RGD:38501104 NCBI chr  X:7,445,915...7,461,482
Ensembl chr  X:7,439,883...7,461,484
JBrowse link
G Gstm1 glutathione S-transferase, mu 1 ISO DNA:deletion RGD PMID:16360200 RGD:2293831 NCBI chr 3:107,919,566...107,925,289
Ensembl chr 3:107,919,571...107,925,289
JBrowse link
G H2-Eb1 histocompatibility 2, class II antigen E beta susceptibility ISO RGD PMID:12918070 PMID:12941545 PMID:19272325 RGD:2314694, RGD:2314693, RGD:2306228 NCBI chr17:34,524,841...34,535,648
Ensembl chr17:34,524,841...34,535,648
JBrowse link
G Il1rl1 interleukin 1 receptor-like 1 ISO RGD PMID:30935248 RGD:39938848 NCBI chr 1:40,444,105...40,504,575
Ensembl chr 1:40,468,730...40,504,575
JBrowse link
G Mir20a microRNA 20a ISO associated with oral squamous cell carcinoma RGD PMID:26781875 RGD:26884343 NCBI chr14:115,281,589...115,281,695
Ensembl chr14:115,281,589...115,281,695
JBrowse link
G Mir21a microRNA 21a ISO RNA:increased expression:cervical cell RGD PMID:26010154 RGD:41404529 NCBI chr11:86,474,893...86,474,984
Ensembl chr11:86,474,893...86,474,984
JBrowse link
G Mthfr methylenetetrahydrofolate reductase no_association ISO DNA:transition, transversion:cds:g.677C>T, g.1298A>C (human) RGD PMID:23444906 RGD:38501058 NCBI chr 4:148,123,534...148,144,019
Ensembl chr 4:148,123,534...148,144,008
JBrowse link
G Mx1 MX dynamin-like GTPase 1 exacerbates ISO protein:increased expression:body wart (human) RGD PMID:28736973 RGD:126777683 NCBI chr16:97,248,235...97,264,106
Ensembl chr16:97,248,235...97,264,107
JBrowse link
G Pten phosphatase and tensin homolog ISO associated with head and neck squamous cell carcinoma;protein:increased expression:oropharynx (human)
associated with tonsil cancer;protein:increased expression:tonsil (human)
RGD PMID:24616007 PMID:28945300 RGD:127285601 RGD:127285613 NCBI chr19:32,734,977...32,803,560
Ensembl chr19:32,734,897...32,803,560
JBrowse link
G Tlr3 toll-like receptor 3 resistance ISO mRNA:increased expression:cervix epithelium (human) RGD PMID:20473890 RGD:5129102 NCBI chr 8:45,848,702...45,864,112
Ensembl chr 8:45,848,702...45,864,117
JBrowse link
G Tlr9 toll-like receptor 9 resistance ISO mRNA:increased expression:cervix epithelium (human) RGD PMID:20473890 RGD:5129102 NCBI chr 9:106,099,797...106,104,075
Ensembl chr 9:106,099,797...106,104,082
JBrowse link
G Vamp7 vesicle-associated membrane protein 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23358896
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 1:83,094,487...83,096,888
Ensembl chr 1:83,094,487...83,096,888
JBrowse link
G 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
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...33,169,213
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
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 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
JBrowse link
G 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
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:16045695 PMID:16199547 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 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 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 Annotator: match by term: TMC8-related condition 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
JBrowse link
G Tmc8 transmembrane channel-like gene family 8 susceptibility ISO ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 2 | ClinVar Annotator: match by term: TMC8-related condition OMIM
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
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 ISO ClinVar Annotator: match by term: CIB1-related condition | ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 3 OMIM
ClinVar
PMID:228581 PMID:19702156 PMID:20982046 PMID:21196704 PMID:25741868 More... NCBI chr 7:79,876,904...79,882,367
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 ISO ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 4 | ClinVar Annotator: match by term: RHOH-related condition OMIM
ClinVar
PMID:22850876 PMID:25741868 PMID:28492532 PMID:38775840 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 ISO ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 5 | ClinVar Annotator: match by term: IL7-related condition OMIM
ClinVar
PMID:25741868 PMID:25981006 PMID:28492532 PMID:31900472 PMID:39352394 NCBI chr 3:7,637,088...7,678,820
Ensembl chr 3:7,635,054...7,678,820
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 antigen ISO ClinVar Annotator: match by term: Immunodeficiency 123 with HPV-related verrucosis OMIM
ClinVar
NCBI chr 1:60,785,547...60,812,521
Ensembl chr 1:60,755,959...60,812,518
JBrowse link
Recurrent Respiratory Papillomatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd274 CD274 antigen ISO protein:increased expression: larynx RGD PMID:22322668 RGD:40822813 NCBI chr19:29,339,428...29,365,495
Ensembl chr19:29,344,855...29,365,495
JBrowse link
G Foxp3 forkhead box P3 susceptibility ISO DNA:SNPs:promoter:rs5902434,rs2232365 (human) RGD PMID:28298239 RGD:38549360 NCBI chr  X:7,445,915...7,461,482
Ensembl chr  X:7,439,883...7,461,484
JBrowse link
G H2-Ab1 histocompatibility 2, class II antigen A, beta 1 severity ISO 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 chr17:34,482,201...34,488,392
Ensembl chr17:34,476,663...34,488,393
JBrowse link
G H2-Eb1 histocompatibility 2, class II antigen E beta severity ISO DNA:polymorphisms:cds:HLA-DRB1*0301, HLA-DRB1*0102 (human) RGD PMID:15336778 RGD:5147657 NCBI chr17:34,524,841...34,535,648
Ensembl chr17:34,524,841...34,535,648
JBrowse link
G Nlrp1a NLR family, pyrin domain containing 1A ISO ClinVar Annotator: match by term: Respiratory papillomatosis, juvenile recurrent, congenital ClinVar
OMIM
PMID:17377159 PMID:24033266 PMID:25741868 PMID:28492532 PMID:31484767 NCBI chr11:70,982,023...71,035,780
Ensembl chr11:70,983,062...71,035,530
JBrowse link
G Pdcd1 programmed cell death 1 ISO RGD PMID:22322668 RGD:40822813 NCBI chr 1:93,966,027...93,980,278
Ensembl chr 1:93,966,027...93,980,278
JBrowse link
G Tap1 transporter 1, ATP-binding cassette, sub-family B (MDR/TAP) severity ISO DNA:polymorphism:cds:p.D637G(human) RGD PMID:14976605 RGD:5147844 NCBI chr17:34,406,530...34,416,199
Ensembl chr17:34,406,527...34,416,199
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 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 chr14:66,206,093...66,218,992
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 chr13:118,851,199...118,928,651
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 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 ISO
IAGP
ClinVar Annotator: match by term: CXCR4-related condition | ClinVar Annotator: match by term: WHIM syndrome 1
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 More... RGD:734860 NCBI chr 1:128,515,936...128,520,036
Ensembl chr 1:128,515,936...128,520,030
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16271
    disease by infectious agent 2237
      viral infectious disease 1726
        Tumor Virus Infections 107
          papillomavirus infectious disease 61
            Recurrent Respiratory Papillomatosis 7
            skin papilloma + 42
Path 2
Term Annotations click to browse term
  disease 16271
    disease of anatomical entity 15862
      Urogenital Diseases 5059
        Female Urogenital Diseases and Pregnancy Complications 2659
          Female Urogenital Diseases 2171
            female reproductive system disease 2168
              uterine disease 498
                Uterine Neoplasms 451
                  Uterine Cervical Neoplasms 223
                    papillomavirus infectious disease 61
                      Recurrent Respiratory Papillomatosis 7
                      skin papilloma + 42
paths to the root