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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:penile disease
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Accession:DOID:1529 term browser browse the term
Definition:Pathological processes involving the PENIS or its component tissues.
Synonyms:exact_synonym: Penis Disease;   Penis Diseases;   penile diseases
 primary_id: MESH:D010409;   RDO:0002721
 xref: ICD10CM:N48.8;   ICD10CM:N48.89;   ICD9CM:607.8
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
penile disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atrx ATRX, chromatin remodeler ISO CTD Direct Evidence: marker/mechanism CTD PMID:19291773 NCBI chr  X:70,850,981...70,997,330
Ensembl chr  X:70,850,981...70,997,330
JBrowse link
G Inpp5e inositol polyphosphate-5-phosphatase E ISO CTD Direct Evidence: marker/mechanism CTD PMID:19668215 NCBI chr 3:9,216,776...9,229,539
Ensembl chr 3:9,216,776...9,229,450
JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: marker/mechanism CTD PMID:1358647 PMID:2825910 PMID:3033702 NCBI chr 6:26,939,844...26,945,666
Ensembl chr 6:26,939,837...26,945,664
JBrowse link
Anal Atresia, Hypospadias, and Penoscrotal Inversion term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc4 ATP binding cassette subfamily C member 4 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr15:95,541,186...95,774,898
Ensembl chr15:95,542,315...95,774,283
JBrowse link
G Abhd13 abhydrolase domain containing 13 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr16:79,501,879...79,516,712
Ensembl chr16:79,501,727...79,516,748
JBrowse link
G Ankrd10 ankyrin repeat domain 10 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr16:77,866,489...77,889,745
Ensembl chr16:77,864,261...77,889,745
JBrowse link
G Arglu1 arginine and glutamate rich 1 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr16:80,753,300...80,777,350
Ensembl chr16:80,753,315...80,777,349
JBrowse link
G Bivm basic, immunoglobulin-like variable motif containing ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr 9:46,268,758...46,305,038
Ensembl chr 9:46,269,252...46,305,024
JBrowse link
G Cars2 cysteinyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr16:77,945,468...77,987,163
Ensembl chr16:77,950,008...77,987,772
JBrowse link
G Ccdc168 coiled-coil domain containing 168 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr 9:46,198,234...46,236,325 JBrowse link
G Cldn10 claudin 10 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr15:95,862,785...95,954,526
Ensembl chr15:95,862,760...95,954,526
JBrowse link
G Clybl citramalyl-CoA lyase ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr15:99,283,644...99,505,697
Ensembl chr15:99,283,650...99,505,695
JBrowse link
G Col4a1 collagen type IV alpha 1 chain ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr16:78,183,533...78,294,412
Ensembl chr16:78,183,533...78,294,412
JBrowse link
G Col4a2 collagen type IV alpha 2 chain ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr16:78,047,591...78,183,360
Ensembl chr16:78,047,602...78,183,839
JBrowse link
G Dct dopachrome tautomerase ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr15:95,062,006...95,100,863
Ensembl chr15:95,062,003...95,100,836
JBrowse link
G Dnajc3 DnaJ heat shock protein family (Hsp40) member C3 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr15:96,025,729...96,065,114
Ensembl chr15:96,025,624...96,065,181
JBrowse link
G Dock9 dedicator of cytokinesis 9 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr15:98,611,518...98,883,306
Ensembl chr15:98,618,084...98,883,153
JBrowse link
G Dzip1 DAZ interacting zinc finger protein 1 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr15:95,956,329...96,009,994
Ensembl chr15:95,956,398...96,010,066
JBrowse link
G Efnb2 ephrin B2 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr16:80,783,389...80,827,420
Ensembl chr16:80,783,417...80,824,391
JBrowse link
G Ercc5 ERCC excision repair 5, endonuclease ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr 9:46,309,477...46,354,478
Ensembl chr 9:46,309,389...46,354,472
JBrowse link
G Farp1 FERM, ARH/RhoGEF and pleckstrin domain protein 1 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr15:98,124,304...98,363,299
Ensembl chr15:98,182,329...98,363,299
JBrowse link
G Fgf14 fibroblast growth factor 14 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr15:101,045,038...101,679,888
Ensembl chr15:101,045,036...101,679,900
JBrowse link
G Ggact gamma-glutamylamine cyclotransferase ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr15:99,969,246...99,998,343
Ensembl chr15:99,968,282...99,993,455
JBrowse link
G Gpc6 glypican 6 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr15:94,030,218...95,027,883
Ensembl chr15:94,029,884...95,024,006
JBrowse link
G Gpr18 G protein-coupled receptor 18 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr15:98,997,427...99,001,177
Ensembl chr15:98,997,259...99,001,470
JBrowse link
G Gpr180 G protein-coupled receptor 180 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr15:95,195,782...95,224,955
Ensembl chr15:95,199,777...95,228,373
JBrowse link
G Gpr183 G protein-coupled receptor 183 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr15:99,037,764...99,050,550
Ensembl chr15:99,036,367...99,050,559
JBrowse link
G Hs6st3 heparan sulfate 6-O-sulfotransferase 3 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr15:96,281,502...97,000,804
Ensembl chr15:96,281,646...97,000,462
JBrowse link
G Ing1 inhibitor of growth family, member 1 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr16:77,937,276...77,945,320
Ensembl chr16:77,937,279...77,946,264
JBrowse link
G Ipo5 importin 5 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr15:97,990,755...98,041,074
Ensembl chr15:98,005,299...98,041,126
JBrowse link
G Irs2 insulin receptor substrate 2 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr16:78,488,249...78,512,482
Ensembl chr16:78,485,045...78,512,482
JBrowse link
G Itgbl1 integrin subunit beta like 1 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr15:100,780,184...101,041,734
Ensembl chr15:100,780,184...101,041,733
JBrowse link
G Lig4 DNA ligase 4 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr16:79,518,393...79,526,956
Ensembl chr16:79,518,312...79,527,040
JBrowse link
G Mbnl2 muscleblind-like splicing regulator 2 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr15:97,385,238...97,542,924
Ensembl chr15:97,385,244...97,542,937
JBrowse link
G Mettl21c methyltransferase like 21C ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr 9:46,130,451...46,145,128
Ensembl chr 9:46,134,001...46,145,112
JBrowse link
G Myo16 myosin XVI ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr16:78,884,405...79,364,445
Ensembl chr16:78,884,406...79,248,388
JBrowse link
G Nalcn sodium leak channel, non-selective ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr15:100,398,615...100,712,283
Ensembl chr15:100,398,615...100,741,001
JBrowse link
G Nalf1 NALCN channel auxiliary factor 1 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr16:79,713,577...80,236,424 JBrowse link
G Naxd NAD(P)HX dehydratase ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr16:77,986,148...78,004,200
Ensembl chr16:77,987,726...78,004,192
JBrowse link
G Oxgr1 oxoglutarate receptor 1 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr15:97,145,947...97,146,960
Ensembl chr15:97,144,293...97,166,612
JBrowse link
G Pcca propionyl-CoA carboxylase subunit alpha ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr15:99,627,955...99,969,555
Ensembl chr15:99,627,982...99,968,266
JBrowse link
G Poglut2 protein O-glucosyltransferase 2 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr 9:46,256,388...46,268,714
Ensembl chr 9:46,256,390...46,268,532
JBrowse link
G Rab20 RAB20, member RAS oncogene family ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr16:78,019,337...78,043,529
Ensembl chr16:78,019,337...78,043,529
JBrowse link
G Rap2a RAP2A, member of RAS oncogene family ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr15:97,596,848...97,597,338
Ensembl chr15:97,596,020...97,624,138
JBrowse link
G Slc10a2 solute carrier family 10 member 2 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr16:84,386,528...84,409,475
Ensembl chr16:84,374,862...84,409,475
JBrowse link
G Slc15a1 solute carrier family 15 member 1 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr15:98,537,641...98,582,544
Ensembl chr15:98,537,641...98,582,545
JBrowse link
G Sox21 SRY-box transcription factor 21 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr15:95,292,272...95,295,316 JBrowse link
G Stk24 serine/threonine kinase 24 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr15:98,363,707...98,458,940
Ensembl chr15:98,365,791...98,460,553
JBrowse link
G Tex30 testis expressed 30 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr 9:46,242,748...46,252,273
Ensembl chr 9:46,242,748...46,252,249
JBrowse link
G Tgds TDP-glucose 4,6-dehydratase ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr15:95,174,607...95,195,577
Ensembl chr15:95,174,608...95,195,554
JBrowse link
G Tm9sf2 transmembrane 9 superfamily member 2 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr15:99,201,556...99,254,054
Ensembl chr15:99,201,489...99,254,049
JBrowse link
G Tmtc4 transmembrane O-mannosyltransferase targeting cadherins 4 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr15:100,000,157...100,056,573
Ensembl chr15:100,000,152...100,056,543
JBrowse link
G Tnfsf13b TNF superfamily member 13b ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr16:79,462,406...79,492,888
Ensembl chr16:79,462,402...79,492,693
JBrowse link
G Tpp2 tripeptidyl peptidase 2 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr 9:46,046,712...46,128,157
Ensembl chr 9:46,046,632...46,128,157
JBrowse link
G Ubac2 UBA domain containing 2 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr15:98,960,139...99,107,795
Ensembl chr15:98,960,139...99,107,787
JBrowse link
G Uggt2 UDP-glucose glycoprotein glucosyltransferase 2 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr15:96,074,557...96,239,365
Ensembl chr15:96,074,564...96,237,806
JBrowse link
G Zic2 Zic family member 2 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr15:99,576,697...99,581,522
Ensembl chr15:99,576,697...99,581,522
JBrowse link
G Zic5 Zic family member 5 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr15:99,558,229...99,567,035
Ensembl chr15:99,560,323...99,567,035
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 CD8a molecule 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 5:103,095,767...103,098,260 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...28,903,796
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 2:120,119,598...120,126,941
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...69,622,570 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
Guttmacher syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hoxa13 homeo box A13 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:176305
OMIM
CTD
ClinVar
PMID:8484413 PMID:11968094 PMID:24239177 NCBI chr 4:81,358,956...81,361,091
Ensembl chr 4:81,358,956...81,361,091
JBrowse link
hypospadias term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ar androgen receptor ISO
ISS
OMIM:146450 | OMIM:300633 | OMIM:300758 | OMIM:300856
mRNA:decreased expression:mucosa of urethra
MouseDO
RGD
PMID:15472213 PMID:23386417 RGD:1578685, RGD:11576230 NCBI chr  X:63,104,771...63,273,934
Ensembl chr  X:63,104,771...63,273,925
JBrowse link
G Atf3 activating transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18001166 NCBI chr13:102,751,278...102,800,520
Ensembl chr13:102,751,321...102,764,631
JBrowse link
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 no_association ISO RGD PMID:15579657 PMID:21300689 RGD:11576312, RGD:11576313 NCBI chr 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125
JBrowse link
G Dgkk diacylglycerol kinase kappa ISO CTD Direct Evidence: marker/mechanism CTD PMID:21113153 PMID:27098078 NCBI chr  X:15,581,991...15,713,814
Ensembl chr  X:15,583,572...15,712,987
JBrowse link
G Esr2 estrogen receptor 2 susceptibility ISO DNA:snps, repeat:promoter, 3' utr:rs2987983, rs10483774, g.dupCA (rs1256062) (human) RGD PMID:17579196 PMID:17579196 RGD:1626506, RGD:1626506 NCBI chr 6:94,858,438...94,909,630
Ensembl chr 6:94,809,547...94,908,919
JBrowse link
G Fgf10 fibroblast growth factor 10 IEP RGD PMID:19464577 RGD:2314151 NCBI chr 2:50,801,897...50,875,428
Ensembl chr 2:50,800,992...50,876,866
JBrowse link
G Fgf8 fibroblast growth factor 8 IEP RGD PMID:19464577 RGD:2314151 NCBI chr 1:244,584,477...244,590,359
Ensembl chr 1:244,584,652...244,590,359
JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 IEP mRNA:decreased expression:male genital tubercle (rat) RGD PMID:19464577 RGD:2314151 NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626
JBrowse link
G Gli3 GLI family zinc finger 3 IEP mRNA:decreased expression:male genital tubercle RGD PMID:27079746 RGD:12743602 NCBI chr17:49,438,567...49,709,712
Ensembl chr17:49,438,567...49,709,712
JBrowse link
G Gstm1 glutathione S-transferase mu 1 ISO DNA:deletion, haplotype: : (human) RGD PMID:21300689 RGD:11576313 NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
JBrowse link
G Gstt1 glutathione S-transferase theta 1 ISO DNA:deletion, haplotype: : (human) RGD PMID:21300689 RGD:11576313 NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585
JBrowse link
G Hhip Hedgehog-interacting protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:31568847 NCBI chr19:27,863,684...27,952,528
Ensembl chr19:27,863,213...27,952,528
JBrowse link
G Hoxa13 homeo box A13 IEP mRNA:decreased expression:male genital tubercle RGD PMID:27079746 RGD:12743602 NCBI chr 4:81,358,956...81,361,091
Ensembl chr 4:81,358,956...81,361,091
JBrowse link
G Hoxd13 homeo box D13 IEP mRNA:decreased expression:male genital tubercle RGD PMID:27079746 RGD:12743602 NCBI chr 3:59,570,647...59,573,963
Ensembl chr 3:59,570,646...59,573,963
JBrowse link
G Hsd3b1 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 ISO DNA:point mutation:CDS:heterozygous S213T or S284R, result in decreased enzyme activity RGD PMID:14764821 RGD:1625114 NCBI chr 2:186,169,864...186,175,984
Ensembl chr 2:186,169,863...186,175,999
JBrowse link
G Hsd3b2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14764821 NCBI chr 2:186,095,897...186,105,354
Ensembl chr 2:186,095,897...186,101,852
JBrowse link
G Srd5a2 steroid 5 alpha-reductase 2 susceptibility ISO protein:missense mutations:cds:p.R227Q, p.F186L (human) RGD PMID:10514539 RGD:1600059 NCBI chr 6:21,426,225...21,465,727
Ensembl chr 6:21,426,215...21,462,112
JBrowse link
Hypospadias 1, X-Linked term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ar androgen receptor ISO ClinVar Annotator: match by term: Hypospadias 1, X-linked
ClinVar Annotator: match by OMIM:300633
OMIM
ClinVar
PMID:8097257 PMID:8683794 PMID:25326637 PMID:25741868 PMID:28492532 NCBI chr  X:63,104,771...63,273,934
Ensembl chr  X:63,104,771...63,273,925
JBrowse link
MORM Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Inpp5e inositol polyphosphate-5-phosphatase E ISO DNA:nonsense mutation:exon:p.Q627X (c.1879C>T) (human)
ClinVar Annotator: match by OMIM:610156
OMIM
ClinVar
RGD
PMID:19668215 PMID:19668215 RGD:12911209 NCBI chr 3:9,216,776...9,229,539
Ensembl chr 3:9,216,776...9,229,450
JBrowse link
Opitz GBBB syndrome type I term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mid1 midline 1 ISO ClinVar Annotator: match by term: Opitz GBBB syndrome, type I
ClinVar Annotator: match by term: OPITZ-G SYNDROME, TYPE I
OMIM
ClinVar
PMID:9354791 PMID:11030761 PMID:12545276 PMID:15121778 PMID:15558842 More... NCBI chr  X:24,116,674...24,491,205
Ensembl chr  X:24,120,293...24,248,353
JBrowse link
Opitz GBBB syndrome type II term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Specc1l sperm antigen with calponin homology and coiled-coil domains 1-like ISO ClinVar Annotator: match by term: Opitz GBBB syndrome, type II OMIM
ClinVar
PMID:3228142 PMID:25412741 PMID:25741868 NCBI chr20:13,337,983...13,443,665
Ensembl chr20:13,339,692...13,443,665
JBrowse link
Opitz-GBBB syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mid1 midline 1 ISS
ISO
OMIM:145410 | OMIM:300000
ClinVar Annotator: match by term: TELECANTHUS-HYPOSPADIAS SYNDROME
MouseDO
ClinVar
PMID:25741868 PMID:28492532 NCBI chr  X:24,116,674...24,491,205
Ensembl chr  X:24,120,293...24,248,353
JBrowse link
penile benign neoplasm term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccnd1 cyclin D1 ISO protein:increased expression:nucleus RGD PMID:17695500 RGD:2289129 NCBI chr 1:200,089,002...200,098,524
Ensembl chr 1:200,089,002...200,098,602
JBrowse link
G Ptges prostaglandin E synthase ISO protein:increased expression:penis, skin RGD PMID:14871981 RGD:2300087 NCBI chr 3:14,177,892...14,189,236 JBrowse link
G Top2a DNA topoisomerase II alpha severity ISO RGD PMID:18489530 RGD:2315128 NCBI chr10:83,946,186...83,975,694
Ensembl chr10:83,945,735...83,976,874
JBrowse link
Penile Neoplasms term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hras HRas proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18355852 NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615
JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18355852 NCBI chr 4:178,185,418...178,218,484 JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:18355852 NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032
JBrowse link
G Tp53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9626339 NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
JBrowse link
Peyronie's disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hdac2 histone deacetylase 2 IMP RGD PMID:24841412 RGD:9590209 NCBI chr20:40,548,250...40,571,609
Ensembl chr20:40,548,250...40,571,609
JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14996430 NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
JBrowse link
priapism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bcl2 BCL2, apoptosis regulator IEP protein:increased expression:erectile tissue (rat) RGD PMID:21085184 RGD:10412315 NCBI chr13:22,689,783...22,853,920 JBrowse link
G F13a1 coagulation factor XIII A1 chain susceptibility ISO associated with sickle cell anemia;DNA:SNPs::multiple(human) RGD PMID:17408468 RGD:10450728 NCBI chr17:27,815,723...27,992,494
Ensembl chr17:27,815,702...27,992,700
JBrowse link
G Mdm2 MDM2 proto-oncogene IEP protein:increased expression:corpus cavernosum RGD PMID:21085184 RGD:10412315 NCBI chr 7:53,290,660...53,315,205
Ensembl chr 7:53,290,664...53,314,915
JBrowse link
Pseudovaginal Perineoscrotal Hypospadias term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Srd5a2 steroid 5 alpha-reductase 2 ISO ClinVar Annotator: match by term: 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:264600
OMIM
ClinVar
CTD
PMID:431680 PMID:835597 PMID:1406794 PMID:1522235 PMID:1944596 More... NCBI chr 6:21,426,225...21,465,727
Ensembl chr 6:21,426,215...21,462,112
JBrowse link
scalp-ear-nipple syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kctd1 potassium channel tetramerization domain containing 1 ISO ClinVar Annotator: match by term: Scalp-ear-nipple syndrome
ClinVar Annotator: match by OMIM:181270
OMIM
ClinVar
PMID:1799422 PMID:8042668 PMID:9383029 PMID:10517259 PMID:16411189 More... NCBI chr18:6,122,390...6,316,434
Ensembl chr18:6,122,390...6,317,393
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      reproductive system disease 2756
        male reproductive system disease 1873
          penile disease 117
            MORM Syndrome 1
            Penile Neoplasms + 7
            Peyronie's disease 2
            anogenital venereal wart + 28
            balanitis + 0
            balanoposthitis 0
            hypospadias + 75
            leukoplakia of penis 0
            phimosis + 0
            priapism + 3
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      Urogenital Diseases 4386
        reproductive system disease 2756
          male reproductive system disease 1873
            penile disease 117
              MORM Syndrome 1
              Penile Neoplasms + 7
              Peyronie's disease 2
              anogenital venereal wart + 28
              balanitis + 0
              balanoposthitis 0
              hypospadias + 75
              leukoplakia of penis 0
              phimosis + 0
              priapism + 3
paths to the root