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
Accession: DOID:2615
browse the term
Definition: A circumscribed benign epithelial tumor projecting from the surrounding surface; more precisely, a benign epithelial neoplasm consisting of villous or arborescent outgrowths of fibrovascular stroma covered by neoplastic cells. (Stedman, 25th ed)
Synonyms: exact_synonym: Papillomas; Papillomatoses; Papillomatosis
primary_id: MESH:D010212
alt_id: RDO:0001385
xref: NCI:C24015 ; NCI:C3713 ; NCI:C7440
For additional species annotation, visit the
Alliance of Genome Resources .
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Ccnd1
cyclin D1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12151359
NCBI chr 1:218,090,750...218,100,447
Ensembl chr 1:218,090,750...218,100,325
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Cdkn1a
cyclin-dependent kinase inhibitor 1A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12151359 , PMID:11684723 , PMID:10430900
RGD:8662351 , RGD:8662432
NCBI chr20:6,348,422...6,358,864
Ensembl chr20:6,351,458...6,358,864
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Egfr
epidermal growth factor receptor
susceptibility
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8603490 , PMID:10943841
RGD:734919
NCBI chr14:99,919,485...100,104,136
Ensembl chr14:99,919,485...100,098,796
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Erbb2
erb-b2 receptor tyrosine kinase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8603490
NCBI chr10:86,367,596...86,391,728
Ensembl chr10:86,367,596...86,391,728
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Hras
HRas proto-oncogene, GTPase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8330346
NCBI chr 1:214,178,404...214,181,841
Ensembl chr 1:214,178,407...214,181,686
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Map2k4
mitogen activated protein kinase kinase 4
ISO
RGD
PMID:20610622
RGD:7495823
NCBI chr10:52,196,121...52,301,887
Ensembl chr10:52,196,124...52,290,657
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Mmp2
matrix metallopeptidase 2
treatment
ISO
associated with Skin Neoplasms
RGD
PMID:20619141
RGD:8657035
NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611
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Nqo1
NAD(P)H quinone dehydrogenase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9496914
NCBI chr19:38,422,210...38,437,103
Ensembl chr19:38,422,164...38,437,180
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Odc1
ornithine decarboxylase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17928125
NCBI chr 6:42,852,529...42,859,142
Ensembl chr 6:42,852,683...42,859,927
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Pla2g4a
phospholipase A2 group IVA
IEP
associated with Bladder Neoplasms;mRNA:increased expression:bladder
RGD
PMID:16621493
RGD:1642457
NCBI chr13:67,062,252...67,206,688
Ensembl chr13:66,988,937...67,206,693
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Ptges
prostaglandin E synthase
IEP
mRNA:increased expression:urinary bladder
RGD
PMID:16621493
RGD:1642457
NCBI chr 3:9,727,408...9,738,752
Ensembl chr 3:9,727,408...9,738,752
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Ptgs2
prostaglandin-endoperoxide synthase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12151359 PMID:16144915
NCBI chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335
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Sod2
superoxide dismutase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11507057
NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
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Sprr1a
small proline-rich protein 1A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8617999
NCBI chr 2:192,669,143...192,671,059
Ensembl chr 2:192,669,143...192,671,059
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Tgfa
transforming growth factor alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8603490
NCBI chr 4:117,961,877...118,045,923
Ensembl chr 4:117,962,319...118,046,344
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Tgfb1
transforming growth factor, beta 1
disease_progression
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20172950 , PMID:7954410
RGD:7394796
NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
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Tyr
tyrosinase
treatment
ISO
RGD
PMID:15007389
RGD:8694346
NCBI chr 1:151,012,598...151,106,802
Ensembl chr 1:151,012,598...151,106,802
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Ccl20
C-C motif chemokine ligand 20
ISO
protein:decreased expression:skin
RGD
PMID:17545018
RGD:7483603
NCBI chr 9:88,918,359...88,921,017
Ensembl chr 9:88,918,433...88,921,001
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Cd8a
CD8a molecule
ISO
mRNA:decreased expression:zone of skin (human)
RGD
PMID:25774455
RGD:36174028
NCBI chr 4:99,217,640...99,243,352
Ensembl chr 4:99,239,115...99,243,351
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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 9:67,699,397...67,706,068
Ensembl chr 9:67,699,379...67,706,065
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Foxp3
forkhead box P3
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr X:15,753,175...15,768,648
Ensembl chr X:15,753,175...15,768,522
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Ifna1
interferon, alpha 1
treatment
ISO
RGD
PMID:25774455
RGD:36174028
NCBI chr 5:106,951,822...106,952,908
Ensembl chr 5:106,952,082...106,952,792
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Il10
interleukin 10
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
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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 chr10:30,034,447...30,048,774
Ensembl chr10:30,038,709...30,048,085
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Il2
interleukin 2
ISO
protein:decreased expression:peripheral blood mononuclear cells (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 2:123,847,150...123,851,854
Ensembl chr 2:123,847,150...123,851,854
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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 chr10:38,963,979...38,969,531
Ensembl chr10:38,963,979...38,969,531
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Il6
interleukin 6
ISO
protein:decreased expression:peripheral blood mononuclear cells (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
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Klrk1
killer cell lectin like receptor K1
ISO
mRNA,protein:decreased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 4:163,392,652...163,403,735
Ensembl chr 4:163,393,217...163,403,653
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Myd88
MYD88, innate immune signal transduction adaptor
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 8:128,022,512...128,027,462
Ensembl chr 8:128,022,473...128,026,841
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Ncr1
natural cytotoxicity triggering receptor 1
ISO
mRNA,protein:decreased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 1:73,178,917...73,226,504
Ensembl chr 1:73,179,013...73,226,777
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Pdcd1
programmed cell death 1
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 9:101,305,742...101,319,937
Ensembl chr 9:101,307,764...101,319,845 Ensembl chr 9:101,307,764...101,319,845
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Ptpn11
protein tyrosine phosphatase, non-receptor type 11
ISO
protein:increased expression:foreskin
RGD
PMID:18543080
RGD:39128248
NCBI chr12:40,895,515...40,955,999
Ensembl chr12:40,895,515...40,955,999
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Ptpn6
protein tyrosine phosphatase, non-receptor type 6
ISO
protein:increased expression:foreskin
RGD
PMID:18543080
RGD:39128248
NCBI chr 4:157,239,141...157,263,890
Ensembl chr 4:157,239,142...157,263,890
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Serpinf1
serpin family F member 1
disease_progression
ISO
mRNA, protein:decreased expression:skin of body (human)
RGD
PMID:23569025
RGD:27226706
NCBI chr10:62,241,750...62,254,145
Ensembl chr10:62,241,756...62,254,287
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Tgfb1
transforming growth factor, beta 1
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
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Tlr2
toll-like receptor 2
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 2:182,840,171...182,846,061
Ensembl chr 2:182,840,727...182,846,061
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Tlr3
toll-like receptor 3
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr16:50,016,466...50,031,011
Ensembl chr16:50,016,857...50,031,214
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Tlr4
toll-like receptor 4
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052
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Tlr7
toll-like receptor 7
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr X:28,486,836...28,513,004
Ensembl chr X:28,486,869...28,512,957
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Tlr8
toll-like receptor 8
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr X:28,539,158...28,562,803
Ensembl chr X:28,539,158...28,562,803
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Tlr9
toll-like receptor 9
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 8:114,916,122...114,920,171
Ensembl chr 8:114,916,122...114,920,171
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Tnf
tumor necrosis factor
ISO
protein:increased expression:peripheral blood mononuclear cells (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000 Ensembl chr20:5,189,390...5,192,000
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Tnfrsf18
TNF receptor superfamily member 18
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 5:173,459,371...173,463,980
Ensembl chr 5:173,460,354...173,463,140
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Tp53
tumor protein p53
ISO
ClinVar Annotator: match by term: Papilloma of choroid plexus ClinVar Annotator: match by OMIM:260500
OMIM ClinVar
PMID:1565143 PMID:1565144 PMID:1683921 PMID:7732013 PMID:7887414 PMID:8164043 PMID:8423216 PMID:8825920 PMID:9047394 PMID:9242456 PMID:9569050 PMID:10411893 PMID:10797439 PMID:10864200 PMID:11101847 PMID:11139324 PMID:11479205 PMID:11782540 PMID:12007217 PMID:12085209 PMID:12619118 PMID:12672316 PMID:12826609 PMID:15004724 PMID:15381368 PMID:15390294 PMID:15607980 PMID:15607981 PMID:15951970 PMID:15977174 PMID:16401470 PMID:16489069 PMID:16682957 PMID:16818505 PMID:17540308 PMID:17606709 PMID:17636407 PMID:18391940 PMID:18511570 PMID:19127115 PMID:19556618 PMID:19881536 PMID:20113312 PMID:20128691 PMID:20407015 PMID:20516128 PMID:20689556 PMID:20693561 PMID:21187651 PMID:21305319 PMID:21343334 PMID:21484931 PMID:21519010 PMID:21552135 PMID:21601526 PMID:21761402 PMID:22006311 PMID:22110706 PMID:22186996 PMID:22233476 PMID:22698404 PMID:22811390 PMID:22899716 PMID:22915647 PMID:23161690 PMID:23246812 PMID:23263379 PMID:23538418 PMID:23792586 PMID:24033266 PMID:24381225 PMID:24487413 PMID:24501221 PMID:24573247 PMID:24641375 PMID:24651012 PMID:24677579 PMID:24810334 PMID:25157968 PMID:25584008 PMID:25741868 PMID:25787918 PMID:25952993 PMID:26230955 PMID:26467025 PMID:26585234 PMID:26619011 PMID:26681312 PMID:26822237 PMID:26845104 PMID:27153395 PMID:27276561 PMID:27374712 PMID:27463065 PMID:27516001 PMID:27680515 PMID:27683180 PMID:27895058 PMID:27959731 PMID:28349240 PMID:28369373 PMID:28453743 PMID:28492532 PMID:29478780 PMID:29489754 PMID:30076369 PMID:30224644 PMID:30327374 PMID:30816478 PMID:31775759 PMID:32000721
NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
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Tmc6
transmembrane channel like 6
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Epidermodysplasia verruciformis
CTD ClinVar
PMID:9536098 PMID:15042430 PMID:17139267 PMID:17576681 PMID:25741868 PMID:28492532
NCBI chr10:106,766,857...106,783,004
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Tmc8
transmembrane channel-like 8
ISO
ClinVar Annotator: match by term: Epidermodysplasia verruciformis
ClinVar
PMID:9536098 PMID:12426567 PMID:17576681 PMID:22158547 PMID:25741868 PMID:28492532
NCBI chr10:106,784,819...106,795,307
Ensembl chr10:106,785,077...106,795,299
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Tmc6
transmembrane channel like 6
ISO
ClinVar Annotator: match by term: EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 1
ClinVar OMIM
PMID:9536098 PMID:12426567 PMID:15042430 PMID:17139267 PMID:17576681 PMID:25741868 PMID:28492532
NCBI chr10:106,766,857...106,783,004
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Tmc8
transmembrane channel-like 8
ISO
ClinVar Annotator: match by term: EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 1
ClinVar
PMID:25741868 PMID:28492532
NCBI chr10:106,784,819...106,795,307
Ensembl chr10:106,785,077...106,795,299
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Tmc8
transmembrane channel-like 8
ISO
ClinVar Annotator: match by term: EPIDERMODYSPLASIA VERRUCIFORMIS 2 ClinVar Annotator: match by term: EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 2
ClinVar OMIM
PMID:10084299 PMID:12426567 PMID:28646613
NCBI chr10:106,784,819...106,795,307
Ensembl chr10:106,785,077...106,795,299
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Cib1
calcium and integrin binding 1
ISO
ClinVar Annotator: match by term: EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 3
ClinVar OMIM
PMID:228581 PMID:19702156 PMID:20982046 PMID:21196704 PMID:28646613 PMID:30068544
NCBI chr 1:142,014,962...142,020,461
Ensembl chr 1:142,014,958...142,020,525
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Rhoh
ras homolog family member H
susceptibility
ISO
ClinVar Annotator: match by term: EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 4
ClinVar OMIM
PMID:22850876
NCBI chr14:43,961,756...43,992,587
Ensembl chr14:43,961,756...43,992,587
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Il7
interleukin 7
susceptibility
ISO
ClinVar Annotator: match by term: EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 5
OMIM ClinVar
PMID:25981006
NCBI chr 2:96,427,884...96,474,979
Ensembl chr 2:96,439,286...96,474,977
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Kb15
type II keratin Kb15
ISO
ClinVar Annotator: match by term: Palmoplantar keratoderma, nonepidermolytic, focal
ClinVar
PMID:19609311
NCBI chr 7:143,208,034...143,217,771
Ensembl chr 7:143,208,527...143,217,535
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Krt16
keratin 16
ISO
ClinVar Annotator: match by term: Palmoplantar keratoderma, nonepidermolytic, focal
ClinVar
PMID:8595410 PMID:16250206 PMID:25741868
NCBI chr10:88,149,210...88,152,167
Ensembl chr10:88,149,345...88,152,064
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Krt16
keratin 16
ISO
OMIM
NCBI chr10:88,149,210...88,152,167
Ensembl chr10:88,149,345...88,152,064
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Spata22
spermatogenesis associated 22
ISO
ClinVar Annotator: match by term: Palmoplantar keratoderma, nonepidermolytic, focal 2
ClinVar
NCBI chr10:59,893,064...59,910,769
Ensembl chr10:59,879,850...59,911,051
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Trpv3
transient receptor potential cation channel, subfamily V, member 3
ISO
ClinVar Annotator: match by term: Palmoplantar keratoderma, nonepidermolytic, focal 2
OMIM ClinVar
PMID:21285946 PMID:24452206 PMID:25285920 PMID:25741868 PMID:28492532 PMID:28587736
NCBI chr10:59,829,755...59,863,780
Ensembl chr10:59,831,241...59,860,987
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Cdkn1a
cyclin-dependent kinase inhibitor 1A
ISO
protein:increased expression:nucleus:
RGD
PMID:19863319 , PMID:21608063
RGD:8662353 , RGD:8662357
NCBI chr20:6,348,422...6,358,864
Ensembl chr20:6,351,458...6,358,864
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Hgf
hepatocyte growth factor
ISO
protein:increased expression:inferior nasal concha:
RGD
PMID:22730814
RGD:8548614
NCBI chr 4:15,435,460...15,505,377
Ensembl chr 4:15,433,295...15,505,362
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Kdr
kinase insert domain receptor
ISO
protein:increased expression:inferior nasal concha:
RGD
PMID:12541477
RGD:8551779
NCBI chr14:34,727,677...34,787,127
Ensembl chr14:34,727,623...34,787,183
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Vegfa
vascular endothelial growth factor A
ISO
protein:increased expression:inferior nasal concha:
RGD
PMID:12541477
RGD:8551779
NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
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LOC299277
similar to serine (or cysteine) peptidase inhibitor, clade A, member 3B
ISO
protein:decreased expression:serum
RGD
PMID:16273852
RGD:5147435
NCBI chr 6:127,871,895...127,888,287
Ensembl chr 6:127,872,666...127,886,540
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Ptgs2
prostaglandin-endoperoxide synthase 2
ISO
RGD
PMID:19736197
RGD:5135499
NCBI chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335
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Serpina3n
serine (or cysteine) peptidase inhibitor, clade A, member 3N
ISO
protein:decreased expression:serum
RGD
PMID:16273852
RGD:5147435
NCBI chr 6:128,073,344...128,080,878
Ensembl chr 6:127,941,526...128,080,889
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Tap1
transporter 1, ATP binding cassette subfamily B member
ISO
RGD
PMID:10618282
RGD:5147846
NCBI chr20:3,979,302...3,989,669
Ensembl chr20:3,979,035...3,989,669
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Ccl20
C-C motif chemokine ligand 20
ISO
protein:decreased expression:skin
RGD
PMID:21715145
RGD:7483622
NCBI chr 9:88,918,359...88,921,017
Ensembl chr 9:88,918,433...88,921,001
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Clu
clusterin
ISO
RGD
PMID:11085517
RGD:8746700
NCBI chr15:42,626,612...42,665,858
Ensembl chr15:42,640,146...42,665,857
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Mir21
microRNA 21
ameliorates
ISO
RGD
PMID:21646541
RGD:41404663
NCBI chr10:73,902,210...73,902,301
Ensembl chr10:73,902,210...73,902,301
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Nrg1
neuregulin 1
ISO
DNA:hypermethylation:
RGD
PMID:31892232
RGD:39456089
NCBI chr16:62,969,573...64,065,063
Ensembl chr16:63,837,216...64,057,434
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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 2:182,840,171...182,846,061
Ensembl chr 2:182,840,727...182,846,061
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Cxcr4
C-X-C motif chemokine receptor 4
ISO
DNA:frame shift, nonsense mutations:cds:1016_1017delCT,p.R334X,E343X(human) ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by OMIM:193670
ClinVar CTD OMIM
PMID:12692554 PMID:15536153 PMID:16899028 PMID:18436740 PMID:19956569 PMID:23009155 PMID:23734232 PMID:23794067 PMID:25662009 PMID:25741868 PMID:28166811 PMID:28492532 , PMID:12692554
RGD:734860
NCBI chr13:45,314,952...45,318,856
Ensembl chr13:45,314,933...45,318,878
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Dars1
aspartyl-tRNA synthetase 1
ISO
ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis
ClinVar
PMID:28492532
NCBI chr13:45,074,067...45,127,815
Ensembl chr13:45,074,072...45,127,815
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