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
Accession: DOID:11166
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 .
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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Vamp7
vesicle-associated membrane protein 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23358896
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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 chr14:33,099,855...33,169,213
Ensembl chr14:33,099,855...33,169,115
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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 PMID:17576681 PMID:22158547 PMID:24033266 PMID:25741868 PMID:28492532 PMID:36268689 More...
NCBI chr11:117,656,811...117,673,019
Ensembl chr11:117,656,814...117,673,024
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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 PMID:17368633 PMID:17576681 PMID:22158547 PMID:24033266 PMID:25741868 PMID:28492532 More...
NCBI chr11:117,672,396...117,683,963
Ensembl chr11:117,672,902...117,683,936
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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
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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 PMID:17576681 PMID:25741868 PMID:28492532 PMID:36268689 More...
NCBI chr11:117,656,811...117,673,019
Ensembl chr11:117,656,814...117,673,024
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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 PMID:28492532 More...
NCBI chr11:117,672,396...117,683,963
Ensembl chr11:117,672,902...117,683,936
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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
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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 PMID:22158547 PMID:24033266 PMID:25741868 PMID:28492532 PMID:28646613 More...
NCBI chr11:117,672,396...117,683,963
Ensembl chr11:117,672,902...117,683,936
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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 PMID:28492532 PMID:28646613 PMID:30068544 More...
NCBI chr 7:79,876,904...79,882,367
Ensembl chr 7:79,876,895...79,882,561
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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Clu
clusterin
IEP
RGD
PMID:11085517
RGD:8746700
NCBI chr14:66,206,093...66,218,992
Ensembl chr14:66,205,932...66,218,996
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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
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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
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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
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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
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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 PMID:17803866 PMID:18436740 PMID:19043667 PMID:19476565 PMID:19956569 PMID:20472031 PMID:20736454 PMID:21070597 PMID:22748845 PMID:23009155 PMID:23734232 PMID:23794067 PMID:25571909 PMID:25662009 PMID:25741868 PMID:28353164 PMID:28492532 PMID:29659363 PMID:30819232 PMID:31313072 PMID:31493092 PMID:32784523 PMID:35947323 PMID:36089616 PMID:12692554 More...
RGD:734860
NCBI chr 1:128,515,936...128,520,036
Ensembl chr 1:128,515,936...128,520,030
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