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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 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 2 | ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 2 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: 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 susceptibility ISO ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 4 OMIM
ClinVar
PMID:22850876 PMID:25741868 PMID:28492532 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 susceptibility ISO ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 5 OMIM
ClinVar
PMID:25981006 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:25741868 PMID:28492532 PMID:31823354 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 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:22668561 PMID:24491404 PMID:25741868 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 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 OMIM NCBI chr10:84,338,695...84,343,279
Ensembl chr10:84,338,706...84,343,701
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 serine (or cysteine) peptidase inhibitor, clade 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 19076
    disease of cellular proliferation 7793
      Neoplasms by Histologic Type 5411
        cell type benign neoplasm 1968
          papilloma 68
            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 + 41
            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 19076
    disease of cellular proliferation 7793
      benign neoplasm 2229
        cell type benign neoplasm 1968
          squamous cell neoplasm 686
            papilloma 68
              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 + 41
              sphenoid sinus Schneiderian papilloma 0
              squamous cell papilloma + 2
              squamous papillomatosis 0
              transitional papilloma + 0
              verrucous papilloma 0
              vulvar squamous papilloma + 0
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