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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:papilloma
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Accession:DOID:2615 term browser browse the term
Definition:A cell type benign neoplam that is composed of epithelial tissue on papillae of vascularized connective tissue. (DO)
Synonyms:exact_synonym: papillomas;   papillomatoses;   papillomatosis
 narrow_synonym: Lung Papilloma
 primary_id: MESH:D010212
 xref: EFO:1000335;   ICDO:8050/0;   NCI:C24015;   NCI:C3713;   NCI:C7440
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
papilloma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccnd1 cyclin D1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12151359 NCBI chr 1:200,089,002...200,098,524
Ensembl chr 1:200,089,002...200,098,602 		JBrowse link
G Cdkn1a cyclin-dependent kinase inhibitor 1A ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:12151359 PMID:11684723 PMID:10430900 RGD:8662351, RGD:8662432 NCBI chr20:7,149,177...7,159,727
Ensembl chr20:7,149,217...7,159,585 		JBrowse link
G Egfr epidermal growth factor receptor susceptibility ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:8603490 PMID:10943841 RGD:734919 NCBI chr14:91,176,979...91,349,722
Ensembl chr14:91,177,067...91,344,382 		JBrowse link
G Erbb2 erb-b2 receptor tyrosine kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8603490 NCBI chr10:83,411,197...83,435,078
Ensembl chr10:83,411,313...83,435,078 		JBrowse link
G Hras HRas proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:8330346 NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615 		JBrowse link
G Map2k4 mitogen activated protein kinase kinase 4 ISO RGD PMID:20610622 RGD:7495823 NCBI chr10:50,343,227...50,447,956
Ensembl chr10:50,344,915...50,447,993 		JBrowse link
G Mmp2 matrix metallopeptidase 2 treatment ISO associated with Skin Neoplasms RGD PMID:20619141 RGD:8657035 NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870 		JBrowse link
G Nqo1 NAD(P)H quinone dehydrogenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9496914 NCBI chr19:35,295,633...35,310,528
Ensembl chr19:35,295,573...35,310,557 		JBrowse link
G Odc1 ornithine decarboxylase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17928125 NCBI chr 6:40,329,831...40,336,444
Ensembl chr 6:40,329,964...40,336,440 		JBrowse link
G Pla2g4a phospholipase A2 group 4A IEP associated with Bladder Neoplasms;mRNA:increased expression:bladder RGD PMID:16621493 RGD:1642457 NCBI chr13:61,877,818...62,022,261
Ensembl chr13:61,877,813...62,022,266 		JBrowse link
G Ptges prostaglandin E synthase IEP mRNA:increased expression:urinary bladder RGD PMID:16621493 RGD:1642457 NCBI chr 3:14,177,892...14,189,236 JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12151359 PMID:16144915 NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188 		JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11507057 NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189 		JBrowse link
G Sprr1a small proline-rich protein 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:8617999 NCBI chr 2:178,055,096...178,057,012
Ensembl chr 2:178,055,096...178,057,063 		JBrowse link
G Tgfa transforming growth factor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:8603490 NCBI chr 4:118,618,043...118,700,897
Ensembl chr 4:118,618,269...118,700,894 		JBrowse link
G Tgfb1 transforming growth factor, beta 1 disease_progression ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:20172950 PMID:7954410 RGD:7394796 NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847 		JBrowse link
G Tyr tyrosinase treatment ISO RGD PMID:15007389 RGD:8694346 NCBI chr 1:141,115,036...141,210,207
Ensembl chr 1:141,115,036...141,210,207 		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 ISO protein:decreased expression:skin RGD PMID:17545018 RGD:7483603 NCBI chr 9:84,389,031...84,391,629
Ensembl chr 9:84,388,904...84,391,629 		JBrowse link
G Cd8a CD8 subunit alpha ISO mRNA:decreased expression:zone of skin (human) RGD PMID:25774455 RGD:36174028 NCBI chr 4:103,365,804...103,370,041
Ensembl chr 4:103,365,804...103,370,040 		JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963 		JBrowse link
G Foxp3 forkhead box P3 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr  X:14,908,494...14,924,994
Ensembl chr  X:14,908,494...14,923,838 		JBrowse link
G Ifna1 interferon, alpha 1 treatment ISO RGD PMID:25774455 RGD:36174028 NCBI chr 5:103,097,356...103,097,925
Ensembl chr 5:103,097,356...103,097,925 		JBrowse link
G Il10 interleukin 10 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313 		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 chr10:28,888,832...28,903,802
Ensembl chr10:28,893,008...28,902,903 		JBrowse link
G Il2 interleukin 2 ISO protein:decreased expression:peripheral blood mononuclear cells (human) RGD PMID:23754510 RGD:40400714 NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566 		JBrowse link
G Il21 interleukin 21 ISO protein:decreased expression:blood serum (human) RGD PMID:31414711 RGD:127285371 NCBI chr 2:120,117,105...120,127,012
Ensembl chr 2:120,119,444...120,126,996 		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 chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750 		JBrowse link
G Il6 interleukin 6 ISO protein:decreased expression:peripheral blood mononuclear cells (human) RGD PMID:23754510 RGD:40400714 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178 		JBrowse link
G Klrk1 killer cell lectin like receptor K1 ISO mRNA,protein:decreased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 4:163,079,887...163,092,434
Ensembl chr 4:163,081,927...163,092,459 		JBrowse link
G Mapk8 mitogen-activated protein kinase 8 treatment ISO mRNA:increased expression:zone of skin (human) RGD PMID:25774455 RGD:36174028 NCBI chr16:8,638,897...8,721,960
Ensembl chr16:8,638,924...8,721,981 		JBrowse link
G Myd88 MYD88, innate immune signal transduction adaptor ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 8:119,074,439...119,078,508
Ensembl chr 8:119,074,437...119,079,415 		JBrowse link
G Ncr1 natural cytotoxicity triggering receptor 1 ISO mRNA,protein:decreased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 1:69,614,744...69,622,594
Ensembl chr 1:69,616,601...69,660,558 		JBrowse link
G Pdcd1 programmed cell death 1 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 9:94,418,786...94,431,945
Ensembl chr 9:94,418,791...94,431,937 		JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO protein:increased expression:foreskin RGD PMID:18543080 RGD:39128248 NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925 		JBrowse link
G Ptpn6 protein tyrosine phosphatase, non-receptor type 6 ISO protein:increased expression:foreskin RGD PMID:18543080 RGD:39128248 NCBI chr 4:157,526,034...157,550,783
Ensembl chr 4:157,526,035...157,550,984 		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 chr10:60,250,198...60,262,593
Ensembl chr10:60,249,708...60,262,646 		JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847 		JBrowse link
G Tlr2 toll-like receptor 2 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630 		JBrowse link
G Tlr3 toll-like receptor 3 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr16:46,821,980...46,837,900
Ensembl chr16:46,822,039...46,836,545 		JBrowse link
G Tlr4 toll-like receptor 4 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628 		JBrowse link
G Tlr7 toll-like receptor 7 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr  X:27,027,380...27,054,309
Ensembl chr  X:27,027,425...27,054,754 		JBrowse link
G Tlr8 toll-like receptor 8 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr  X:27,091,780...27,116,092
Ensembl chr  X:27,091,778...27,116,549 		JBrowse link
G Tlr9 toll-like receptor 9 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 8:106,864,680...106,868,796
Ensembl chr 8:106,864,680...106,868,796 		JBrowse link
G Tnf tumor necrosis factor ISO protein:increased expression:peripheral blood mononuclear cells (human) RGD PMID:23754510 RGD:40400714 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629 		JBrowse link
G Tnfrsf18 TNF receptor superfamily member 18 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 5:166,618,461...166,622,353
Ensembl chr 5:166,618,969...166,622,353 		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 8:4,968,856...4,989,325
Ensembl chr 8:4,968,842...4,988,732 		JBrowse link
G Birc3 baculoviral IAP repeat-containing 3 ISO mRNA:increased expression:perianal skin (human) RGD PMID:20346172 RGD:152998971 NCBI chr 8:5,000,844...5,028,470
Ensembl chr 8:5,000,845...5,015,802 		JBrowse link
choroid plexus papilloma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tp53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Choroid plexus papilloma | ClinVar Annotator: match by term: Papilloma of choroid plexus		 CTD
ClinVar
OMIM		 PMID:1565143 PMID:1565144 PMID:1591732 PMID:1631137 PMID:1683921 More... NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524 		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:9536098 PMID:12426567 PMID:15042430 PMID:16199547 PMID:17139267 More... NCBI chr10:102,982,059...102,999,509
Ensembl chr10:102,971,229...102,998,960 		JBrowse link
G Tmc8 transmembrane channel-like 8 ISO ClinVar Annotator: match by term: Epidermodysplasia verruciformis ClinVar PMID:9536098 PMID:10084299 PMID:12426567 PMID:16045695 PMID:16199547 More... NCBI chr10:103,000,038...103,010,601
Ensembl chr10:102,998,402...103,010,590 		JBrowse link
G Tnrc6c trinucleotide repeat containing adaptor 6C ISO ClinVar Annotator: match by term: Epidermodysplasia verruciformis ClinVar PMID:28492532 NCBI chr10:102,908,958...102,979,543
Ensembl chr10:102,868,828...102,978,194 		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 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 chr10:102,982,059...102,999,509
Ensembl chr10:102,971,229...102,998,960 		JBrowse link
G Tmc8 transmembrane channel-like 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 chr10:103,000,038...103,010,601
Ensembl chr10:102,998,402...103,010,590 		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 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 chr10:102,982,059...102,999,509
Ensembl chr10:102,971,229...102,998,960 		JBrowse link
G Tmc8 transmembrane channel-like 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 chr10:103,000,038...103,010,601
Ensembl chr10:102,998,402...103,010,590 		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 1:134,178,331...134,183,895
Ensembl chr 1:134,178,331...134,213,423 		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 chr14:42,341,135...42,371,971
Ensembl chr14:42,337,751...42,386,369 		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 2:94,235,219...94,280,075
Ensembl chr 2:94,234,766...94,280,075 		JBrowse link
focal nonepidermolytic palmoplantar keratoderma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt16 keratin 16 ISO ClinVar Annotator: match by term: Palmoplantar keratoderma, nonepidermolytic, focal ClinVar PMID:8595410 PMID:16250206 PMID:22336941 PMID:24611874 PMID:25741868 More... NCBI chr10:85,168,357...85,171,816
Ensembl chr10:85,066,802...85,171,799 		JBrowse link
G Krt6c keratin 6c ISO ClinVar Annotator: match by term: Focal palmoplantar keratoderma ClinVar PMID:19609311 NCBI chr 7:132,799,608...132,804,045
Ensembl chr 7:132,799,616...132,804,045 		JBrowse link
G Spata22 spermatogenesis associated 22 ISO ClinVar Annotator: match by term: Isolated focal non-epidermolytic palmoplantar keratoderma ClinVar PMID:25741868 NCBI chr10:57,945,272...57,963,081
Ensembl chr10:57,932,187...57,963,081 		JBrowse link
G Trpv3 transient receptor potential cation channel, subfamily V, member 3 ISO ClinVar Annotator: match by term: Isolated focal non-epidermolytic palmoplantar keratoderma ClinVar PMID:9536098 PMID:17576681 PMID:21285946 PMID:24452206 PMID:25285920 More... NCBI chr10:57,883,546...57,915,865
Ensembl chr10:57,883,546...57,913,296 		JBrowse link
focal nonepidermolytic palmoplantar keratoderma 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt16 keratin 16 ISO ClinVar Annotator: match by term: Palmoplantar keratoderma, nonepidermolytic, focal 1 OMIM
ClinVar		 PMID:8595410 PMID:16250206 PMID:22336941 PMID:22668561 PMID:24491404 More... NCBI chr10:85,168,357...85,171,816
Ensembl chr10:85,066,802...85,171,799 		JBrowse link
focal nonepidermolytic palmoplantar keratoderma 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trpv3 transient receptor potential cation channel, subfamily V, member 3 ISO ClinVar Annotator: match by term: Palmoplantar keratoderma, nonepidermolytic, focal 2 | ClinVar Annotator: match by term: TRPV3-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr10:57,883,546...57,915,865
Ensembl chr10:57,883,546...57,913,296 		JBrowse link
Ichthyosis Hystrix Gravior term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt10 keratin 10 ISO ClinVar Annotator: match by term: Ichthyosis hystrix gravior OMIM
ClinVar		 PMID:17355236 PMID:27212473 NCBI chr10:84,338,695...84,343,279
Ensembl chr10:84,338,706...84,343,701 		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 ISO ClinVar Annotator: match by term: Immunodeficiency 123 with HPV-related verrucosis OMIM
ClinVar		 NCBI chr 9:62,166,324...62,194,674
Ensembl chr 9:62,166,192...62,194,685 		JBrowse link
inverted papilloma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdkn1a cyclin-dependent kinase inhibitor 1A ISO protein:increased expression:nucleus: RGD PMID:19863319 PMID:21608063 RGD:8662353, RGD:8662357 NCBI chr20:7,149,177...7,159,727
Ensembl chr20:7,149,217...7,159,585 		JBrowse link
G Hgf hepatocyte growth factor ISO protein:increased expression:inferior nasal concha: RGD PMID:22730814 RGD:8548614 NCBI chr 4:18,673,736...18,745,582
Ensembl chr 4:18,677,101...18,745,409 		JBrowse link
G Kdr kinase insert domain receptor ISO protein:increased expression:inferior nasal concha: RGD PMID:12541477 RGD:8551779 NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018 		JBrowse link
G Vegfa vascular endothelial growth factor A ISO protein:increased expression:inferior nasal concha: RGD PMID:12541477 RGD:8551779 NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641 		JBrowse link
Laryngeal Papillomatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO RGD PMID:19736197 RGD:5135499 NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188 		JBrowse link
G Serpina3n serpin family A member 3N ISO protein:decreased expression:serum RGD PMID:16273852 RGD:5147435 NCBI chr 6:123,323,623...123,331,181
Ensembl chr 6:123,323,629...123,332,433 		JBrowse link
G Tap1 transporter 1, ATP binding cassette subfamily B member ISO RGD PMID:10618282 RGD:5147846 NCBI chr20:4,656,262...4,666,634
Ensembl chr20:4,656,263...4,666,901 		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 9:84,389,031...84,391,629
Ensembl chr 9:84,388,904...84,391,629 		JBrowse link
G Clu clusterin ISO RGD PMID:11085517 RGD:8746700 NCBI chr15:40,161,068...40,200,315
Ensembl chr15:40,174,617...40,200,315 		JBrowse link
G Fgf10 fibroblast growth factor 10 ISO protein:increased expression:skin (mouse) RGD PMID:24582960 RGD:126928134 NCBI chr 2:50,801,171...50,878,218
Ensembl chr 2:50,800,992...50,876,866 		JBrowse link
G Mir21 microRNA 21 ameliorates ISO RGD PMID:21646541 RGD:41404663 NCBI chr10:71,405,257...71,405,348
Ensembl chr10:71,405,257...71,405,348 		JBrowse link
G Nrg1 neuregulin 1 ISO DNA:hypermethylation: RGD PMID:31892232 RGD:39456089 NCBI chr16:59,250,658...60,304,519
Ensembl chr16:59,250,854...60,296,884 		JBrowse link
G Tlr2 toll-like receptor 2 ISO protein:increased expression,altered expression:cytoplasm,membrane, nucleus: RGD PMID:24617037 RGD:8553046 NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630 		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
ISS		 DNA:frame shift, nonsense mutations:cds:1016_1017delCT,p.R334X,E343X(human)
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 chr13:40,077,976...40,081,883
Ensembl chr13:40,077,976...40,081,883 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19137
    disease of cellular proliferation 7889
      Neoplasms by Histologic Type 5346
        cell type benign neoplasm 1958
          papilloma 69
            Davenport Donlan Syndrome 0
            Familial Cutaneous Papillomatosis 0
            Florid Papillomatosis of Nipple 0
            Ichthyosis Hystrix Gravior 1
            Laryngeal Papillomatosis 3
            biliary papillomatosis + 0
            breast duct papilloma + 0
            breast intraductal papillomatosis 0
            cervix squamous papilloma 0
            choroid plexus papilloma + 1
            ethmoid sinus Schneiderian papilloma 0
            focal nonepidermolytic palmoplantar keratoderma + 4
            frontal sinus Schneiderian papilloma 0
            gallbladder papillomatosis 0
            intraductal papilloma 0
            inverted papilloma + 4
            nasal vestibule papilloma 0
            papillary adenoma + 0
            renal pelvis papillary tumor + 0
            serous surface papilloma 0
            skin papilloma + 42
            sphenoid sinus Schneiderian papilloma 0
            squamous cell papilloma + 2
            squamous papillomatosis 0
            transitional papilloma + 0
            verrucous papilloma 0
            vulvar squamous papilloma + 0
Path 2
Term Annotations click to browse term
  disease 19137
    disease of cellular proliferation 7889
      benign neoplasm 2219
        cell type benign neoplasm 1958
          squamous cell neoplasm 673
            papilloma 69
              Davenport Donlan Syndrome 0
              Familial Cutaneous Papillomatosis 0
              Florid Papillomatosis of Nipple 0
              Ichthyosis Hystrix Gravior 1
              Laryngeal Papillomatosis 3
              biliary papillomatosis + 0
              breast duct papilloma + 0
              breast intraductal papillomatosis 0
              cervix squamous papilloma 0
              choroid plexus papilloma + 1
              ethmoid sinus Schneiderian papilloma 0
              focal nonepidermolytic palmoplantar keratoderma + 4
              frontal sinus Schneiderian papilloma 0
              gallbladder papillomatosis 0
              intraductal papilloma 0
              inverted papilloma + 4
              nasal vestibule papilloma 0
              papillary adenoma + 0
              renal pelvis papillary tumor + 0
              serous surface papilloma 0
              skin papilloma + 42
              sphenoid sinus Schneiderian papilloma 0
              squamous cell papilloma + 2
              squamous papillomatosis 0
              transitional papilloma + 0
              verrucous papilloma 0
              vulvar squamous papilloma + 0
paths to the root