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: Familial Prostate Cancer
Accession: DOID:9005539
browse the term
Synonyms: exact_synonym: hereditary prostate cancer
related_synonym: prostate cancer susceptibility
primary_id: MESH:C537243
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ADGRG1
adhesion G protein-coupled receptor G1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29892016
NCBI chr 2:58,805,737...58,842,618
Ensembl chr 2:58,805,834...58,852,684
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AR
androgen receptor
ISO
ClinVar Annotator: match by term: Prostate cancer susceptibility
ClinVar
PMID:8530589 PMID:10589774 PMID:11103816 PMID:28492532
NCBI chr24:34,713,390...34,731,461 NCBI chr X:51,969,785...52,167,450
Ensembl chr X:51,969,785...52,151,912
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ARHGAP6
Rho GTPase activating protein 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29892016
NCBI chr X:7,704,838...8,188,358
Ensembl chr X:7,706,156...7,951,557
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ATAT1
alpha tubulin acetyltransferase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29892016
NCBI chr12:441,847...456,349
Ensembl chr12:441,895...456,152
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ATM
ATM serine/threonine kinase
ISO
ClinVar Annotator: match by term: Hereditary prostate cancer
ClinVar
PMID:15928302 PMID:16199547 PMID:16941484 PMID:17124347 PMID:17910737 PMID:19431188 PMID:21665257 PMID:21792198 PMID:22071889 PMID:23454770 PMID:23632773 PMID:23807571 PMID:25122203 PMID:25614872 PMID:25741868 PMID:27913932 PMID:28492532 PMID:28779002 PMID:29600275 PMID:29909963 PMID:30322717 PMID:30338439 PMID:32866655 PMID:33280026 PMID:33436325 PMID:33471991 PMID:34654685 PMID:34755017 PMID:36988593 More...
NCBI chr 5:24,180,129...24,297,207
Ensembl chr 5:24,182,135...24,297,207
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B3GAT1
beta-1,3-glucuronyltransferase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29892016
NCBI chr 5:741,231...747,641
Ensembl chr 5:745,747...748,899
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BCAS1
brain enriched myelin associated protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29892016
NCBI chr24:39,702,242...39,799,787
Ensembl chr24:39,699,931...39,800,185
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BCL2
BCL2 apoptosis regulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29892016
NCBI chr 1:13,733,849...13,900,653
Ensembl chr 1:13,731,406...13,900,658
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BCL2L11
BCL2 like 11
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29892016
NCBI chr17:35,619,804...35,665,782
Ensembl chr17:35,619,582...35,664,587
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BLTP3A
bridge-like lipid transfer protein family member 3A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29892016
NCBI chr12:4,027,333...4,087,988
Ensembl chr12:4,027,455...4,089,578
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BRCA1
BRCA1 DNA repair associated
ISO
ClinVar Annotator: match by term: Hereditary prostate cancer
ClinVar
PMID:17319787 PMID:18489799 PMID:20104584 PMID:21203900 PMID:25525159 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29446198 PMID:31409081 PMID:32295079 More...
NCBI chr 9:19,958,941...20,025,494
Ensembl chr 9:19,958,391...20,025,494
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C5H11orf65
chromosome 5 C11orf65 homolog
ISO
ClinVar Annotator: match by term: Hereditary prostate cancer
ClinVar
PMID:15928302 PMID:16941484 PMID:17124347 PMID:17910737 PMID:19431188 PMID:21665257 PMID:21792198 PMID:22071889 PMID:23454770 PMID:23632773 PMID:25122203 PMID:25741868 PMID:27913932 PMID:28492532 PMID:28779002 PMID:29600275 PMID:29909963 PMID:30338439 PMID:33280026 PMID:33436325 PMID:33471991 PMID:34755017 PMID:36988593 More...
NCBI chr 5:24,106,696...24,166,686
Ensembl chr 5:24,121,409...24,166,291
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CASP8
caspase 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29892016
NCBI chr37:10,362,071...10,402,108
Ensembl chr37:10,391,048...10,401,822
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CDCA7
cell division cycle associated 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29892016
NCBI chr36:17,572,311...17,586,414
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CDH1
cadherin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:14961571 PMID:16189707
NCBI chr 5:80,757,508...80,834,878
Ensembl chr 5:80,757,508...80,834,878
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CDKN1B
cyclin dependent kinase inhibitor 1B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29892016
NCBI chr27:33,609,154...33,613,558
Ensembl chr27:33,611,760...33,612,906
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CHD3
chromodomain helicase DNA binding protein 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29892016
NCBI chr 5:32,747,341...32,768,114
Ensembl chr 5:32,747,397...32,766,965
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CHEK2
checkpoint kinase 2
ISO
ClinVar Annotator: match by term: Hereditary prostate cancer
ClinVar
PMID:21876083 PMID:24713400 PMID:25741868 PMID:26467025 PMID:27083775 PMID:28492532 PMID:30128536 PMID:31844177 PMID:32805687 PMID:33471991 More...
NCBI chr26:22,052,256...22,145,675
Ensembl chr26:21,427,961...22,240,624
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COL23A1
collagen type XXIII alpha 1 chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29892016
NCBI chr11:2,997,504...3,319,948
Ensembl chr11:2,997,021...3,318,867
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CYP3A4
cytochrome P450, family 3, subfamily A, polypeptide 4
no_association
ISO
RGD
PMID:15180491
RGD:5685600
NCBI chr 6:9,836,685...9,869,520
Ensembl chr 6:9,777,659...9,869,352
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DENND4B
DENN domain containing 4B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29892016
NCBI chr 7:43,185,637...43,198,309
Ensembl chr 7:43,185,550...43,198,577
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DLA-DOA
HLA class II histocompatibility antigen, DO alpha chain-like
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29892016
NCBI chr12:2,563,673...2,568,328
Ensembl chr12:2,563,673...2,568,328
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DNMT3B
DNA methyltransferase 3 beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29892016
NCBI chr24:22,096,386...22,123,378
Ensembl chr24:22,096,349...22,122,900
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DOCK2
dedicator of cytokinesis 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29892016
NCBI chr 4:41,779,950...42,177,957
Ensembl chr 4:41,780,436...42,235,177
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EMSY
EMSY transcriptional repressor, BRCA2 interacting
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29892016
NCBI chr21:22,149,131...22,289,857
Ensembl chr21:22,149,127...22,289,875
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FBRSL1
fibrosin like 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29892016
NCBI chr26:535,522...613,134
Ensembl chr26:531,248...613,183
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HAUS6
HAUS augmin like complex subunit 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29892016
NCBI chr11:38,889,977...38,935,396
Ensembl chr11:38,893,544...38,935,136
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HOXB13
homeobox B13
ISO
ClinVar Annotator: match by term: Prostate cancer susceptibility
ClinVar
PMID:8756292 PMID:15964834 PMID:17138648 PMID:22236224 PMID:22714738 PMID:22781434 PMID:22841674 PMID:22853031 PMID:23064873 PMID:23292082 PMID:23457453 PMID:23518396 PMID:24026887 PMID:25206306 PMID:25629170 PMID:25741868 PMID:26108461 PMID:26467025 PMID:26517352 PMID:26845104 PMID:27153395 PMID:27424772 PMID:27626483 PMID:27902461 PMID:28050579 PMID:28492532 PMID:28798948 PMID:30527799 PMID:30560549 PMID:32546843 More...
NCBI chr 9:24,958,020...24,961,353
Ensembl chr 9:24,959,183...24,961,588
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INCENP
inner centromere protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29892016
NCBI chr18:54,361,376...54,384,649
Ensembl chr18:54,361,378...54,384,641
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ITGB8
integrin subunit beta 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29892016
NCBI chr14:34,370,957...34,449,091
Ensembl chr14:34,349,232...34,444,235
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KDM2A
lysine demethylase 2A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29892016
NCBI chr18:50,178,511...50,294,097
Ensembl chr18:50,181,024...50,291,127
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KNL1
kinetochore scaffold 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29892016
NCBI chr30:7,753,515...7,825,019
Ensembl chr30:7,753,432...7,821,588
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LARP4B
La ribonucleoprotein 4B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29892016
NCBI chr 2:34,026,788...34,122,144
Ensembl chr 2:34,026,534...34,119,443
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LOC119865560
U6 spliceosomal RNA
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29892016
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LOC119871686
U6 spliceosomal RNA
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29892016
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MAD1L1
mitotic arrest deficient 1 like 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29892016
NCBI chr 6:14,889,126...15,236,194
Ensembl chr 6:14,882,875...15,236,192
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MAP2K1
mitogen-activated protein kinase kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29892016
NCBI chr30:30,683,192...30,760,479
Ensembl chr30:30,683,107...30,760,479
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MBD2
methyl-CpG binding domain protein 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29892016
NCBI chr 1:21,232,260...21,283,687
Ensembl chr 1:21,235,967...21,283,346
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MBNL1
muscleblind like splicing regulator 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29892016
NCBI chr23:46,697,755...46,941,300
Ensembl chr23:46,737,790...46,938,233
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MECOM
MDS1 and EVI1 complex locus
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29892016
NCBI chr34:33,747,495...34,299,389
Ensembl chr34:33,748,843...34,299,276
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MMP14
matrix metallopeptidase 14
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29892016
NCBI chr 8:3,183,419...3,193,079
Ensembl chr 8:3,183,606...3,194,122
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MOB2
MOB kinase activator 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29892016
NCBI chr18:45,698,096...45,776,402
Ensembl chr18:45,682,790...45,776,349
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MSH6
mutS homolog 6
ISO
ClinVar Annotator: match by term: Hereditary prostate cancer
ClinVar
PMID:18269114 PMID:24362816 PMID:25741868 PMID:28492532
NCBI chr10:49,825,330...49,838,036
Ensembl chr10:49,803,898...49,838,028
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MYO9B
myosin IXB
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29892016
NCBI chr20:45,512,286...45,582,619
Ensembl chr20:45,512,276...45,582,619
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OACYL
O-acyltransferase like
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29892016
NCBI chr 1:17,074,103...17,143,844
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PAX9
paired box 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29892016
NCBI chr 8:15,221,852...15,239,629
Ensembl chr 8:15,221,730...15,239,099
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PKNOX2
PBX/knotted 1 homeobox 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29892016
NCBI chr 5:9,054,138...9,363,750
Ensembl chr 5:9,056,134...9,178,159
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POU2F2
POU class 2 homeobox 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29892016
NCBI chr 1:112,165,908...112,252,712
Ensembl chr 1:112,220,511...112,321,672
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PPFIBP2
PPFIA binding protein 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29892016
NCBI chr21:31,165,386...31,335,231
Ensembl chr21:31,165,194...31,334,973
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RASSF3
Ras association domain family member 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29892016
NCBI chr10:7,323,272...7,353,378
Ensembl chr10:7,212,460...7,351,395
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RFX7
regulatory factor X7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29892016
NCBI chr30:21,305,458...21,437,901
Ensembl chr30:21,308,282...21,437,935
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RNASEL
ribonuclease L
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 7:15,978,055...16,001,604
Ensembl chr 7:15,856,151...16,001,569
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RNF43
ring finger protein 43
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29892016
NCBI chr 9:32,996,668...33,061,781
Ensembl chr 9:32,997,937...33,060,313
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RNLS
renalase, FAD dependent amine oxidase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29892016
NCBI chr26:38,137,662...38,413,666
Ensembl chr26:38,083,371...38,414,033
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SUGCT
succinyl-CoA:glutarate-CoA transferase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29892016
NCBI chr18:9,051,920...9,766,342
Ensembl chr18:9,030,745...9,766,277
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TCF4
transcription factor 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29892016
NCBI chr 1:20,060,788...20,417,367
Ensembl chr 1:20,060,788...20,417,348
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TCF7L2
transcription factor 7 like 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29892016
NCBI chr28:23,966,079...24,162,775
Ensembl chr28:23,966,073...24,163,737
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TOR1A
torsin family 1 member A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29892016
NCBI chr 9:54,017,895...54,027,049
Ensembl chr 9:54,017,952...54,026,680
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TSHZ1
teashirt zinc finger homeobox 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29892016
NCBI chr 1:4,224,875...4,229,755
Ensembl chr 1:4,226,210...4,246,762
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TTC28
tetratricopeptide repeat domain 28
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29892016
NCBI chr26:21,424,249...22,049,579
Ensembl chr26:21,427,961...22,240,624
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BRAF
B-Raf proto-oncogene, serine/threonine kinase
ISO
ClinVar Annotator: match by term: Prostate cancer, hereditary, 1
ClinVar
PMID:11727201 PMID:12068308 PMID:12460918 PMID:12460919 PMID:12673792 PMID:14679157 PMID:15035987 PMID:16439621 PMID:17096326 PMID:17119447 PMID:17311103 PMID:17704260 PMID:18039235 PMID:18042262 PMID:18368129 PMID:18413255 PMID:19010912 PMID:19206169 PMID:19238210 PMID:19376813 PMID:19383316 PMID:19913317 PMID:20186801 PMID:20301365 PMID:20301601 PMID:21483012 PMID:21871821 PMID:22495831 PMID:22649091 PMID:23093928 PMID:23833300 PMID:23907581 PMID:24033266 PMID:24918823 PMID:25157968 PMID:25463315 PMID:25741868 PMID:26582644 PMID:26619011 PMID:28492532 PMID:29084544 PMID:29533785 PMID:33683002 More...
NCBI chr16:8,222,909...8,318,179
Ensembl chr16:8,222,907...8,317,906
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HOXB13
homeobox B13
ISO
ClinVar Annotator: match by term: Prostate cancer, hereditary, 1
ClinVar
PMID:9536098 PMID:17576681 PMID:25741868 PMID:26467025 PMID:28492532
NCBI chr 9:24,958,020...24,961,353
Ensembl chr 9:24,959,183...24,961,588
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HRAS
HRas proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: Prostate cancer, hereditary, 1
ClinVar
NCBI chr18:25,642,844...25,644,717
Ensembl chr18:25,642,844...25,644,717
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KRAS
KRAS proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: Prostate cancer, hereditary, 1
ClinVar
PMID:17056636 PMID:17468812 PMID:17704260 PMID:18386799 PMID:20949621 PMID:21909114 PMID:22211815 PMID:24033266 PMID:24037001 PMID:24803665 PMID:25741868 PMID:28492532 PMID:28583095 PMID:29402968 PMID:32078254 PMID:33452774 More...
NCBI chr27:22,261,753...22,296,704
Ensembl chr27:22,257,941...22,293,369
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LRRC56
leucine rich repeat containing 56
ISO
ClinVar Annotator: match by term: Prostate cancer, hereditary, 1
ClinVar
NCBI chr18:25,647,024...25,662,646
Ensembl chr18:25,647,882...25,664,220
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NRAS
NRAS proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: Prostate cancer, hereditary, 1
ClinVar
NCBI chr17:52,411,733...52,418,788
Ensembl chr17:52,411,733...52,418,788
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PTEN
phosphatase and tensin homolog
ISO
ClinVar Annotator: match by term: Prostate cancer, hereditary, 1
ClinVar
PMID:9467011 PMID:9600246 PMID:10051160 PMID:12786840 PMID:16773562 PMID:17324556 PMID:17942903 PMID:18669439 PMID:19329485 PMID:20685300 PMID:21194675 PMID:21659347 PMID:23160955 PMID:25527629 PMID:25741868 PMID:27477328 PMID:28492532 PMID:29785012 PMID:30886105 PMID:31594918 PMID:32670512 PMID:33482532 PMID:34184188 More...
NCBI chr26:37,853,148...37,913,176
Ensembl chr26:37,835,661...37,913,176
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RNASEL
ribonuclease L
ISO
ClinVar Annotator: match by term: Prostate cancer, hereditary, 1
OMIM ClinVar
PMID:11799394 PMID:12415269 PMID:16609730 PMID:25741868 PMID:28492532
NCBI chr 7:15,978,055...16,001,604
Ensembl chr 7:15,856,151...16,001,569
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TP53
tumor protein p53
ISO
ClinVar Annotator: match by term: Prostate cancer, hereditary, 1
ClinVar
PMID:12826609 PMID:20522432 PMID:25741868 PMID:27545002 PMID:28492532 PMID:29070607 PMID:29979965 PMID:30224644 PMID:30816478 PMID:32658383 More...
NCBI chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109
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EHBP1
EH domain binding protein 1
ISO
ClinVar Annotator: match by term: Prostate cancer, hereditary, 12
OMIM ClinVar
PMID:18264098
NCBI chr10:62,480,466...62,825,978
Ensembl chr10:62,366,512...62,825,693
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ELAC2
elaC ribonuclease Z 2
ISO
ClinVar Annotator: match by term: Prostate cancer, hereditary, 2
ClinVar OMIM
PMID:10986046 PMID:11175785 PMID:11254448 PMID:11507049 PMID:12515253 PMID:12522685 PMID:15863270 PMID:24033266 PMID:25326635 PMID:25741868 PMID:28492532 PMID:31045291 More...
NCBI chr 5:36,957,901...36,978,646
Ensembl chr 5:36,958,264...36,978,606
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HOXB13
homeobox B13
ISO
ClinVar Annotator: match by term: Prostate cancer, hereditary, 9
OMIM ClinVar
PMID:8756292 PMID:15964834 PMID:17138648 PMID:22236224 PMID:22714738 PMID:22781434 PMID:22841674 PMID:22853031 PMID:23064873 PMID:23292082 PMID:23457453 PMID:23518396 PMID:24026887 PMID:25206306 PMID:25629170 PMID:25741868 PMID:26108461 PMID:26176944 PMID:26467025 PMID:26517352 PMID:26845104 PMID:27153395 PMID:27424772 PMID:27626483 PMID:27902461 PMID:28050579 PMID:28492532 PMID:28798948 PMID:30527799 PMID:30560549 PMID:31214711 PMID:32546843 More...
NCBI chr 9:24,958,020...24,961,353
Ensembl chr 9:24,959,183...24,961,588
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all
Path 1
disease
17773
disease of anatomical entity
15130
reproductive system disease
2891
reproductive organ cancer
1234
male reproductive organ cancer
821
prostate cancer
817
Familial Prostate Cancer
69
Prostate Cancer, Hereditary, 1
9
Prostate Cancer, Hereditary, 10
0
Prostate Cancer, Hereditary, 11
0
Prostate Cancer, Hereditary, 12
1
Prostate Cancer, Hereditary, 13
0
Prostate Cancer, Hereditary, 14
0
Prostate Cancer, Hereditary, 15
0
Prostate Cancer, Hereditary, 2
1
Prostate Cancer, Hereditary, 3
0
Prostate Cancer, Hereditary, 4
0
Prostate Cancer, Hereditary, 5
0
Prostate Cancer, Hereditary, 6
0
Prostate Cancer, Hereditary, 7
0
Prostate Cancer, Hereditary, 8
0
Prostate Cancer, Hereditary, 9
1
Prostate Cancer, Hereditary, X-Linked 1
0
Prostate Cancer, Hereditary, X-Linked 2
0
Path 2
disease
17773
disease of anatomical entity
15130
Urogenital Diseases
4710
reproductive system disease
2891
male reproductive system disease
1895
Male Genital Neoplasms
1304
Prostatic Neoplasms
1278
prostate cancer
817
Familial Prostate Cancer
69
Prostate Cancer, Hereditary, 1
9
Prostate Cancer, Hereditary, 10
0
Prostate Cancer, Hereditary, 11
0
Prostate Cancer, Hereditary, 12
1
Prostate Cancer, Hereditary, 13
0
Prostate Cancer, Hereditary, 14
0
Prostate Cancer, Hereditary, 15
0
Prostate Cancer, Hereditary, 2
1
Prostate Cancer, Hereditary, 3
0
Prostate Cancer, Hereditary, 4
0
Prostate Cancer, Hereditary, 5
0
Prostate Cancer, Hereditary, 6
0
Prostate Cancer, Hereditary, 7
0
Prostate Cancer, Hereditary, 8
0
Prostate Cancer, Hereditary, 9
1
Prostate Cancer, Hereditary, X-Linked 1
0
Prostate Cancer, Hereditary, X-Linked 2
0