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: seminoma
Accession: DOID:4440
browse the term
Definition: A germinoma that has_material_basis_in cells that make sperm and eggs. (DO)
Synonyms: exact_synonym: pure seminoma; seminomas
primary_id: MESH:D018239
xref: ICDO:9061/3
For additional species annotation, visit the
Alliance of Genome Resources .
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Ccnd2
cyclin D2
ISO
mRNA, protein:increased expression:testis
RGD
PMID:15747581
RGD:2289154
NCBI chr 4:159,966,883...159,989,261
Ensembl chr 4:159,962,363...159,989,495
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Chek2
checkpoint kinase 2
ISO
protein:decreased expression:testis
RGD
PMID:11593395
RGD:2298484
NCBI chr12:45,788,823...45,821,382
Ensembl chr12:45,788,827...45,821,286
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Entpd6
ectonucleoside triphosphate diphosphohydrolase 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21519793
NCBI chr 3:139,575,659...139,598,163
Ensembl chr 3:139,575,686...139,598,154
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Fas
Fas cell surface death receptor
ISO
mRNA, protein:decreased expression:testis
RGD
PMID:17916181
RGD:2290049
NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
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Faslg
Fas ligand
ISO
mRNA, protein:increased expression:testis
RGD
PMID:17916181
RGD:2290049
NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215
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Fgfr3
fibroblast growth factor receptor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19855393
NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
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Fhit
fragile histidine triad diadenosine triphosphatase
ISO
RGD
PMID:12379753
RGD:2289879
NCBI chr15:13,935,029...15,442,620
Ensembl chr15:13,934,995...15,442,340
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Hmbs
hydroxymethylbilane synthase
ISO
mRNA:increased expression:tumor (human)
RGD
PMID:15823405
RGD:2301683
NCBI chr 8:44,673,554...44,680,950
Ensembl chr 8:44,673,554...44,680,957
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Hras
HRas proto-oncogene, GTPase
ISO
DNA:mutations: :multiple (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:19855393 PMID:19855393
RGD:2314832
NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615
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Inha
inhibin subunit alpha
ISO
RGD
PMID:11720904
RGD:2290380
NCBI chr 9:76,994,465...76,997,366
Ensembl chr 9:76,993,589...76,997,248
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Insr
insulin receptor
ISO
RGD
PMID:15967097
RGD:2290460
NCBI chr12:1,193,193...1,330,976
Ensembl chr12:1,197,100...1,330,883
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Jup
junction plakoglobin
ISO
RGD
PMID:11956097
RGD:2291872
NCBI chr10:85,300,438...85,327,378
Ensembl chr10:85,300,440...85,327,057
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Kcne1
potassium voltage-gated channel subfamily E regulatory subunit 1
ISO
RGD
PMID:15389592
RGD:1580497
NCBI chr11:31,580,951...31,594,116
Ensembl chr11:31,580,742...31,593,901
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Kcnq1
potassium voltage-gated channel subfamily Q member 1
ISO
RGD
PMID:15389592
RGD:1580497
NCBI chr 1:198,291,711...198,624,683
Ensembl chr 1:198,291,766...198,624,669
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Kit
KIT proto-oncogene receptor tyrosine kinase
ISO
RGD
PMID:10362788
RGD:2292181
NCBI chr14:32,547,459...32,624,694
Ensembl chr14:32,548,877...32,624,652
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Kras
KRAS proto-oncogene, GTPase
ISO
RGD
PMID:8816895
RGD:2314915
NCBI chr 4:178,185,418...178,218,484
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Pcna
proliferating cell nuclear antigen
disease_progression
ISO
RGD
PMID:7474604
RGD:2315012
NCBI chr 3:119,499,039...119,502,911
Ensembl chr 3:119,498,810...119,502,995
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Pdgfra
platelet derived growth factor receptor alpha
ISO
mRNA:splice variant:testis
RGD
PMID:8610136
RGD:2292154
NCBI chr14:33,005,838...33,054,347
Ensembl chr14:33,005,839...33,054,335
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Pdpn
podoplanin
ISO
RGD
PMID:17951198
RGD:2292234
NCBI chr 5:155,601,691...155,635,656
Ensembl chr 5:155,601,691...155,635,656
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Plaat3
phospholipase A and acyltransferase 3
ISO
RGD
PMID:11526504
RGD:2290002
NCBI chr 1:204,782,608...204,816,397
Ensembl chr 1:204,782,729...204,817,667
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Pou5f1
POU class 5 homeobox 1
ISO
protein:increased expression:chest DNA:hypomethylation:promoter mRNA, protein:increased expression:testis
RGD
PMID:18162782 PMID:17549357 PMID:17785371
RGD:2292429 , RGD:2292433 , RGD:2292432
NCBI chr20:3,223,128...3,227,891
Ensembl chr20:3,223,129...3,227,891
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Prmt5
protein arginine methyltransferase 5
ISO
protein:altered localization
RGD
PMID:17437848
RGD:2299953
NCBI chr15:27,968,893...27,978,291
Ensembl chr15:27,968,910...27,978,296
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Rb1
RB transcriptional corepressor 1
ISO
protein:decreased expression:testis
RGD
PMID:12754735
RGD:2299891
NCBI chr15:48,371,295...48,502,473
Ensembl chr15:48,371,296...48,502,302
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Smad4
SMAD family member 4
ISO
DNA, protein:insertion, decreased expression:1521insT
RGD
PMID:10706106
RGD:2299975
NCBI chr18:67,243,742...67,274,438
Ensembl chr18:67,243,742...67,274,438
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Tspy1
testis specific protein, Y-linked 1
ISO
protein:increased expression:testis
RGD
PMID:17521702
RGD:2315445
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Tymp
thymidine phosphorylase
ISO
protein:increased expression:testis
RGD
PMID:10886088
RGD:2293724
NCBI chr 7:120,438,768...120,444,088
Ensembl chr 7:120,438,770...120,443,874 Ensembl chr 7:120,438,770...120,443,874
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Vegfa
vascular endothelial growth factor A
disease_progression
ISO
protein:increased expression:testis
RGD
PMID:19288744
RGD:2315467
NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
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Xrcc1
X-ray repair cross complementing 1
susceptibility
ISO
DNA:polymorphism: :p.R399Q
RGD
PMID:16596238
RGD:2302576
NCBI chr 1:80,140,495...80,168,705
Ensembl chr 1:80,141,207...80,168,701
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Zfp354a
zinc finger protein 354A
ISO
mRNA:increased expression:testis
RGD
PMID:9788609
RGD:2291889
NCBI chr10:35,396,242...35,408,069
Ensembl chr10:35,396,231...35,408,068
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Fgfr3
fibroblast growth factor receptor 3
ISO
ClinVar Annotator: match by term: Spermatocytic seminoma
ClinVar
PMID:7773297 PMID:8599935 PMID:8754806 PMID:9207791 PMID:9677066 PMID:10053006 PMID:10471491 PMID:11055896 PMID:11241532 PMID:11429702 PMID:12624096 PMID:15843401 PMID:16752380 PMID:16912704 PMID:19088846 PMID:19855393 PMID:20301540 PMID:20453470 PMID:20704477 PMID:21273588 PMID:21510009 PMID:23972473 PMID:24075385 PMID:25614871 PMID:25741868 PMID:28492532 PMID:31994750 PMID:33942288 PMID:34930662 More...
NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
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Hras
HRas proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: Spermatocytic seminoma
ClinVar
PMID:12727991 PMID:19855393 PMID:25157968 PMID:25741868 PMID:31775759
NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615
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Lrrc56
leucine rich repeat containing 56
ISO
ClinVar Annotator: match by term: Spermatocytic seminoma
ClinVar
PMID:12727991 PMID:19855393 PMID:25157968 PMID:25741868 PMID:31775759
NCBI chr 1:196,299,843...196,315,170
Ensembl chr 1:196,299,846...196,315,172
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