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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:testicular disease
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Accession:DOID:2519 term browser browse the term
Definition:Pathological processes of the TESTIS.
Synonyms:exact_synonym: disorder of testis;   testicular diseases;   testis disorder
 primary_id: MESH:D013733
 xref: EFO:0009601;   NCI:C26890
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
testicular disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Faslg Fas ligand ISO CTD Direct Evidence: marker/mechanism CTD PMID:19429229 NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215 		JBrowse link
G Igsf1 immunoglobulin superfamily, member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143598 NCBI chr  X:129,069,891...129,085,331
Ensembl chr  X:129,069,896...129,085,139 		JBrowse link
G Ppp3ca protein phosphatase 3 catalytic subunit alpha treatment ISO CTD Direct Evidence: marker/mechanism
associated with Cadmium Poisoning		 CTD
RGD		 PMID:17785681 PMID:17785681 RGD:13515119 NCBI chr 2:225,165,981...225,440,978
Ensembl chr 2:225,165,766...225,438,974 		JBrowse link
G Tsc22d3 TSC22 domain family, member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22556341 NCBI chr  X:104,217,898...104,277,886
Ensembl chr  X:104,217,925...104,276,861 		JBrowse link
3MC syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Colec11 collectin sub-family member 11 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: 3MC syndrome 2 | ClinVar Annotator: match by term: COLEC11-related condition		 OMIM
CTD
ClinVar		 PMID:2569826 PMID:8933348 PMID:21258343 PMID:25741868 PMID:28301481 More... NCBI chr 6:45,223,974...45,256,640
Ensembl chr 6:45,223,980...45,271,145 		JBrowse link
G Masp1 MBL associated serine protease 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21258343 NCBI chr11:77,334,794...77,405,271
Ensembl chr11:77,334,859...77,402,974 		JBrowse link
G Slc26a2 solute carrier family 26 member 2 ISO ClinVar Annotator: match by term: OSA syndrome ClinVar PMID:7695699 PMID:7923357 PMID:8218237 PMID:8528239 PMID:8571951 More... NCBI chr18:54,648,276...54,666,627
Ensembl chr18:54,652,951...54,666,626 		JBrowse link
Alazami-Yuan Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap4m1 adaptor related protein complex 4 subunit mu 1 ISO ClinVar Annotator: match by term: Alazami-Yuan syndrome | ClinVar Annotator: match by term: TAF6-related condition ClinVar PMID:25741868 PMID:28492532 NCBI chr12:17,049,766...17,055,954
Ensembl chr12:17,049,777...17,058,026 		JBrowse link
G Larp7 La ribonucleoprotein 7, transcriptional regulator ISO ClinVar Annotator: match by term: Alazami-Yuan syndrome ClinVar PMID:25741868 NCBI chr 2:215,997,641...216,012,833
Ensembl chr 2:215,997,649...216,012,865 		JBrowse link
G Taf6 TATA-box binding protein associated factor 6 ISO ClinVar Annotator: match by term: Alazami-Yuan syndrome | ClinVar Annotator: match by term: TAF6-related condition OMIM
ClinVar		 PMID:11295558 PMID:25558065 PMID:25574841 PMID:25741868 PMID:28492532 NCBI chr12:17,055,864...17,064,244
Ensembl chr12:17,055,873...17,064,247 		JBrowse link
atrophy of testis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bcl2l2 Bcl2-like 2 ISO RGD PMID:9500547 RGD:734642 NCBI chr15:28,346,449...28,361,627
Ensembl chr15:28,356,807...28,361,624 		JBrowse link
G Brca2 BRCA2, DNA repair associated IMP RGD PMID:12754522 RGD:727990 NCBI chr12:59,492...103,789
Ensembl chr12:59,819...100,567 		JBrowse link
G Brca2m1Uwm BRCA2, DNA repair associated; mutation 1, University of Wisconsin-Madison IMP RGD PMID:12754522 RGD:727990
Autosomal Recessive Syndrome of Syndactyly, Undescended Testes and Central Nervous System Defects term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbln1 fibulin 1 ISO ClinVar Annotator: match by term: Autosomal recessive syndrome of syndactyly, undescended testes and central nervous system defects ClinVar PMID:24084572 NCBI chr 7:116,310,582...116,390,075
Ensembl chr 7:116,310,582...116,390,075 		JBrowse link
cryptorchidism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc8 ATP binding cassette subfamily C member 8 ISO ClinVar Annotator: match by term: Bilateral cryptorchidism ClinVar PMID:16613899 PMID:16885549 PMID:18025408 PMID:18981553 PMID:21989597 More... NCBI chr 1:96,598,568...96,679,563
Ensembl chr 1:96,598,647...96,679,510 		JBrowse link
G Adamts16 ADAM metallopeptidase with thrombospondin type 1 motif, 16 IMP RGD PMID:32037220 PMID:24983376 RGD:38548917, RGD:13434925 NCBI chr 1:32,430,436...32,562,481
Ensembl chr 1:32,430,436...32,560,494 		JBrowse link
G Adamts16em1Bj ADAM metallopeptidase with thrombospondin type 1 motif, 16; ZFN mutant1,Bj IMP RGD PMID:24983376 PMID:32037220 RGD:13434925, RGD:38548917
G Anxa5 annexin A5 IEP protein:increased expression: seminiferous tubulle RGD PMID:19376566 RGD:10053693 NCBI chr 2:119,314,007...119,344,703
Ensembl chr 2:119,314,007...119,353,369 		JBrowse link
G Ar androgen receptor ISO DNA:repeats:exon RGD PMID:15472213 PMID:15757859 RGD:1578685, RGD:11576231 NCBI chr  X:63,104,771...63,273,934
Ensembl chr  X:63,104,771...63,273,925 		JBrowse link
G Atrx ATRX, chromatin remodeler ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: undescended testicle		 CTD
ClinVar		 PMID:7697714 PMID:19291773 PMID:23820649 PMID:24690944 PMID:24805811 More... NCBI chr  X:70,850,981...70,997,330
Ensembl chr  X:70,850,981...70,997,330 		JBrowse link
G Bcl2l1 Bcl2-like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26050606 NCBI chr 3:141,253,508...141,304,582
Ensembl chr 3:141,253,523...141,303,479
Ensembl chr 1:141,253,523...141,303,479 		JBrowse link
G Btd biotinidase ISO ClinVar Annotator: match by term: Cryptorchidism ClinVar NCBI chr16:6,863,068...6,894,345
Ensembl chr16:6,862,407...6,940,945 		JBrowse link
G Casp3 caspase 3 ISO
IEP		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:26050606 PMID:29606031 RGD:13792609 NCBI chr16:45,662,910...45,681,171
Ensembl chr16:45,662,910...45,684,648 		JBrowse link
G Cbl Cbl proto-oncogene ISO CTD Direct Evidence: marker/mechanism CTD PMID:20694012 NCBI chr 8:44,487,824...44,571,620
Ensembl chr 8:44,489,410...44,571,176 		JBrowse link
G Cftr CF transmembrane conductance regulator ISO mRNA, protein:decreased expression:testis RGD PMID:22777528 RGD:11567213 NCBI chr 4:46,561,269...46,728,759
Ensembl chr 4:46,560,885...46,728,756 		JBrowse link
G Chrm3 cholinergic receptor, muscarinic 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22077972 NCBI chr17:60,005,137...60,467,250
Ensembl chr17:60,005,202...60,467,278 		JBrowse link
G Esr1 estrogen receptor 1 IEP mRNA:decreased expression:testis RGD PMID:20951417 RGD:8553220 NCBI chr 1:41,106,335...41,499,104
Ensembl chr 1:41,210,475...41,495,002 		JBrowse link
G Fas Fas cell surface death receptor IEP RGD PMID:29606031 RGD:13792609 NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591 		JBrowse link
G Gfer growth factor, augmenter of liver regeneration IEP protein:decreased expression:male germ cell: RGD PMID:17918708 RGD:9685739 NCBI chr10:13,718,489...13,721,782
Ensembl chr10:13,718,489...13,720,869 		JBrowse link
G Gpx4 glutathione peroxidase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26050606 NCBI chr 7:9,650,186...9,652,982
Ensembl chr 7:9,650,185...9,652,982 		JBrowse link
G Hoxd13 homeo box D13 ISO DNA:splice-site mutation:exon:180A>G (human) RGD PMID:17216618 RGD:12743597 NCBI chr 3:59,570,647...59,573,963
Ensembl chr 3:59,570,646...59,573,963 		JBrowse link
G Hsd3b2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26050606 NCBI chr 2:186,095,897...186,105,354
Ensembl chr 2:186,095,897...186,101,852 		JBrowse link
G Hsf1 heat shock transcription factor 1 IEP protein:increased expression:testis, spermatocyte, nucleus (rat) RGD PMID:21480429 RGD:10402945 NCBI chr 7:108,196,040...108,223,011
Ensembl chr 7:108,196,056...108,223,011 		JBrowse link
G Htra2 HtrA serine peptidase 2 IEP RGD PMID:16563141 RGD:10402928 NCBI chr 4:115,556,914...115,560,202
Ensembl chr 4:115,556,916...115,560,095 		JBrowse link
G Igf1r insulin-like growth factor 1 receptor IEP protein:decreased expression:testis (rat) RGD PMID:7473418 RGD:12904727 NCBI chr 1:121,549,831...121,838,548
Ensembl chr 1:121,550,743...121,831,777 		JBrowse link
G Insl3 insulin-like 3 ISO
ISS		 idiopathic cryptorchidism, OMIM:219050
ClinVar Annotator: match by term: Bilateral cryptorchidism | ClinVar Annotator: match by term: Cryptorchidism
CTD Direct Evidence: marker/mechanism		 MouseDO
ClinVar
CTD
OMIM
RGD		 PMID:11095425 PMID:11746019 PMID:12601553 PMID:12970298 PMID:14687758 More... RGD:1600162 NCBI chr16:18,398,682...18,400,566
Ensembl chr16:18,384,829...18,400,560 		JBrowse link
G Kat6b lysine acetyltransferase 6B ISO ClinVar Annotator: match by term: Cryptorchidism ClinVar PMID:25741868 NCBI chr15:2,638,885...2,811,977
Ensembl chr15:2,639,200...2,812,316 		JBrowse link
G Kdm5a lysine demethylase 5A IEP mRNA:increased expression:testes (rat) RGD PMID:24679876 RGD:9588526 NCBI chr 4:153,565,909...153,643,912
Ensembl chr 4:153,565,846...153,642,422 		JBrowse link
G Kiss1r KISS1 receptor ISO ClinVar Annotator: match by term: Bilateral cryptorchidism ClinVar PMID:15598687 PMID:25741868 PMID:28492532 PMID:29452377 NCBI chr 7:9,785,135...9,790,283
Ensembl chr 7:9,785,135...9,788,793 		JBrowse link
G Lsm1 LSM1 homolog, mRNA degradation associated ISO ClinVar Annotator: match by term: Cryptorchidism ClinVar PMID:25741868 PMID:31010896 NCBI chr16:66,277,345...66,288,852
Ensembl chr16:66,277,345...66,288,852 		JBrowse link
G Mefv MEFV innate immunity regulator, pyrin ISO ClinVar Annotator: match by term: Cryptorchidism | ClinVar Annotator: match by term: undescended testicle ClinVar PMID:9288094 PMID:9288758 PMID:9781020 PMID:10364520 PMID:10787449 More... NCBI chr10:11,786,948...11,796,977
Ensembl chr10:11,787,422...11,796,973 		JBrowse link
G Mfsd2a MFSD2 lysolipid transporter A, lysophospholipid ISO ClinVar Annotator: match by term: Cryptorchidism ClinVar NCBI chr 5:135,225,801...135,240,744
Ensembl chr 5:135,225,816...135,240,690 		JBrowse link
G Msx1 msh homeobox 1 IEP RGD PMID:18222913 RGD:5132606 NCBI chr14:72,961,036...72,964,970
Ensembl chr14:72,961,148...72,964,966 		JBrowse link
G Nfkbia NFKB inhibitor alpha ISO protein:decreased expression:testis RGD PMID:22777528 RGD:11567213 NCBI chr 6:72,858,713...72,861,941
Ensembl chr 6:72,858,712...72,861,941 		JBrowse link
G Ngf nerve growth factor IEP mRNA,protein:decreased expression:testis RGD PMID:22490502 RGD:402463952 NCBI chr 2:189,901,058...189,954,452
Ensembl chr 2:189,901,058...189,954,452 		JBrowse link
G Nipbl NIPBL, cohesin loading factor ISO ClinVar Annotator: match by term: Cryptorchidism ClinVar PMID:25741868 NCBI chr 2:57,399,443...57,586,770
Ensembl chr 2:57,399,445...57,565,899 		JBrowse link
G Plod1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 ISO ClinVar Annotator: match by term: Bilateral cryptorchidism ClinVar PMID:25741868 NCBI chr 5:158,340,674...158,367,581
Ensembl chr 5:158,340,490...158,367,620 		JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO mRNA, protein:increased expression:testis RGD PMID:22777528 RGD:11567213 NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188 		JBrowse link
G Rab3gap1 RAB3 GTPase activating protein catalytic subunit 1 ISO ClinVar Annotator: match by term: Cryptorchidism ClinVar NCBI chr13:39,355,698...39,429,154
Ensembl chr13:39,352,247...39,429,169 		JBrowse link
G Rela RELA proto-oncogene, NF-kB subunit ISO protein:increased expression:testis RGD PMID:22777528 RGD:11567213 NCBI chr 1:202,925,001...202,935,484
Ensembl chr 1:202,924,945...202,935,484 		JBrowse link
G Rxfp2 relaxin family peptide receptor 2 ISO bilateral cryptorchidism, OMIM:219050
ClinVar Annotator: match by term: Bilateral cryptorchidism | ClinVar Annotator: match by term: Cryptorchidism		 ClinVar
RGD		 PMID:12217959 PMID:12970298 PMID:20636340 PMID:25741868 PMID:12217959 RGD:1600187 NCBI chr12:4,924,747...4,986,672
Ensembl chr12:4,925,722...4,986,596 		JBrowse link
G Smchd1 structural maintenance of chromosomes flexible hinge domain containing 1 ISO ClinVar Annotator: match by term: Cryptorchidism ClinVar PMID:25741868 PMID:28067909 NCBI chr 9:111,243,445...111,387,272
Ensembl chr 9:111,247,702...111,349,665 		JBrowse link
G Sox3 SRY-box transcription factor 3 ISO ClinVar Annotator: match by term: undescended testicle ClinVar PMID:23757202 PMID:25741868 PMID:28492532 NCBI chr  X:139,308,608...139,310,687
Ensembl chr  X:139,309,329...139,310,678 		JBrowse link
G Sts steroid sulfatase IEP protein:increased expression:scrotum, testis RGD PMID:2576297 RGD:1601402 NCBI chr  X:42,225,131...42,233,403
Ensembl chr  X:42,225,372...42,233,402 		JBrowse link
G Syne2 spectrin repeat containing nuclear envelope protein 2 IAGP DNA:deletion:exon: RGD PMID:26502805 RGD:12911229 NCBI chr 6:94,537,088...94,848,085
Ensembl chr 6:94,537,088...94,848,064 		JBrowse link
G Szt2 SZT2 subunit of KICSTOR complex ISO ClinVar Annotator: match by term: Cryptorchidism | ClinVar Annotator: match by term: undescended testicle ClinVar PMID:25741868 PMID:28492532 PMID:30564332 PMID:30755392 PMID:35773235 NCBI chr 5:131,897,250...131,943,953
Ensembl chr 5:131,897,275...131,943,904 		JBrowse link
G Tmco1 transmembrane and coiled-coil domains 1 ISO ClinVar Annotator: match by term: undescended testicle ClinVar PMID:25741868 PMID:30755392 PMID:31102500 PMID:32214227 NCBI chr13:79,460,229...79,483,557
Ensembl chr13:79,460,135...79,483,555 		JBrowse link
G Tuba1a tubulin, alpha 1A ISO ClinVar Annotator: match by term: Cryptorchidism ClinVar PMID:18954413 PMID:24860126 PMID:25741868 PMID:28492532 PMID:30744660 More... NCBI chr 7:130,113,214...130,116,880
Ensembl chr 7:130,081,032...130,196,186 		JBrowse link
Experimental Autoimmune Orchitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccl2 C-C motif chemokine ligand 2 IEP protein:increased expression:testis (rat) RGD PMID:14638441 RGD:1358455 NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226 		JBrowse link
G Hnrnph1 heterogeneous nuclear ribonucleoprotein H1 IDA RGD PMID:16092147 RGD:1624236 NCBI chr10:34,692,868...34,702,849
Ensembl chr10:34,693,555...34,702,846 		JBrowse link
G Hspd1 heat shock protein family D (Hsp60) member 1 IDA RGD PMID:16092147 RGD:1624236 NCBI chr 9:56,579,195...56,590,011
Ensembl chr 9:56,579,201...56,589,662 		JBrowse link
G Inha inhibin subunit alpha IEP protein:decreased expression:serum: RGD PMID:11431143 RGD:8694089 NCBI chr 9:76,994,465...76,997,366
Ensembl chr 9:76,993,589...76,997,248 		JBrowse link
G Serpina1 serpin family A member 1 IEP protein:increased expression:serum RGD PMID:16092147 RGD:1624236 NCBI chr 6:122,866,314...122,888,339
Ensembl chr 6:122,866,312...122,888,339 		JBrowse link
frontonasal dysplasia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alx4 ALX homeobox 4 ISO ClinVar Annotator: match by term: Frontonasal dysplasia 2 ClinVar
OMIM		 PMID:19692347 PMID:22140057 PMID:24668755 PMID:25741868 PMID:28492532 NCBI chr 3:79,611,682...79,648,260
Ensembl chr 3:79,611,719...79,648,260 		JBrowse link
Growth Mental Deficiency Syndrome of Myhre term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ltbp3 latent transforming growth factor beta binding protein 3 ISO ClinVar Annotator: match by term: Heritable Thoracic Aortic Disease ClinVar PMID:25741868 PMID:29625025 NCBI chr 1:203,029,412...203,045,975
Ensembl chr 1:203,029,877...203,045,975 		JBrowse link
G Smad4 SMAD family member 4 ISO ClinVar Annotator: match by term: Growth mental deficiency syndrome of Myhre | ClinVar Annotator: match by term: Heritable thoracic aortic disease without juvenile polyposis and hereditary hemorrhagic telangiectasia | ClinVar Annotator: match by term: LAPS SYNDROME | ClinVar Annotator: match by term: LARYNGOTRACHEAL STENOSIS, ARTHROPATHY, PROGNATHISM, AND SHORT STATURE | ClinVar Annotator: match by term: Myhre syndrome
ClinVar Annotator: match by term: Growth mental deficiency syndrome of Myhre | ClinVar Annotator: match by term: Heritable thoracic aortic disease without juvenile polyposis and hereditary hemorrhagic telangiectasia | ClinVar Annotator: match by term: LAPS SYNDROME | ClinVar Annotator: match by term: Myhre syndrome
DNA:missense mutations:exon:p.I500T (c.1498A>G), p.I500V, p.I500M (human)
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD
RGD		 PMID:7296942 PMID:8898652 PMID:9582123 PMID:9679244 PMID:9811934 More... RGD:12880042 NCBI chr18:67,243,742...67,274,438
Ensembl chr18:67,243,742...67,274,438 		JBrowse link
IGSF1 deficiency syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aopep aminopeptidase O ISO ClinVar Annotator: match by term: X-linked central congenital hypothyroidism with late-onset testicular enlargement ClinVar PMID:25741868 NCBI chr17:1,811,281...2,127,316
Ensembl chr17:1,811,980...2,127,331 		JBrowse link
G Fancb FA complementation group B ISO ClinVar Annotator: match by term: X-linked central congenital hypothyroidism with late-onset testicular enlargement ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr  X:29,403,771...29,420,484
Ensembl chr  X:29,403,771...29,420,192 		JBrowse link
G Fancc FA complementation group C ISO ClinVar Annotator: match by term: X-linked central congenital hypothyroidism with late-onset testicular enlargement ClinVar PMID:25741868 NCBI chr17:1,680,660...1,822,610
Ensembl chr17:1,681,324...1,829,376 		JBrowse link
G Igsf1 immunoglobulin superfamily, member 1 ISO
ISS		 ClinVar Annotator: match by term: IGSF1-related condition | ClinVar Annotator: match by term: X-linked central congenital hypothyroidism with late-onset testicular enlargement
OMIM:300888		 OMIM
ClinVar
MouseDO		 PMID:23143598 PMID:23966245 PMID:25741868 PMID:26840047 PMID:27310681 More... NCBI chr  X:129,069,891...129,085,331
Ensembl chr  X:129,069,896...129,085,139 		JBrowse link
lepromatous leprosy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C3 complement C3 severity ISO protein:decreased expression:serum RGD PMID:6342123 RGD:7411735 NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429 		JBrowse link
G Cd163 CD163 molecule exacerbates ISO protein:increased expression:blood serum (human) RGD PMID:22851198 PMID:28355218 RGD:39939078, RGD:127345133 NCBI chr 4:157,085,080...157,118,470
Ensembl chr 4:157,085,093...157,117,878 		JBrowse link
G Cfb complement factor B severity ISO RGD PMID:6342123 RGD:7411735 NCBI chr20:3,970,643...3,976,510
Ensembl chr20:3,951,474...3,976,505 		JBrowse link
G Il27 interleukin 27 ameliorates ISO mRNA:decreased expression:skin of body (human) RGD PMID:26030183 RGD:126790539 NCBI chr 1:181,173,108...181,178,720
Ensembl chr 1:181,173,372...181,178,582 		JBrowse link
G Mbl2 mannose binding lectin 2 susceptibility ISO DNA:SNP:cds:161G>A (human) RGD PMID:20650301 RGD:8694069 NCBI chr 1:228,016,439...228,024,736 JBrowse link
G RT1-Ba RT1 class II, locus Ba susceptibility ISO DNA:polymorphisms: :HLA-DQA1*03, HLA-DQA1*05 (human) RGD PMID:19698125 RGD:5147788 NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744 		JBrowse link
G Vdr vitamin D receptor ISO GAD PMID:15118671 RGD:1331525 NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677 		JBrowse link
leprosy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Batf3 basic leucine zipper ATF-like transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25642632 NCBI chr13:102,689,657...102,701,241
Ensembl chr13:102,689,657...102,701,139 		JBrowse link
G Ccdc122 coiled-coil domain containing 122 ISO ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 ClinVar PMID:25741868 NCBI chr15:52,407,717...52,470,163
Ensembl chr15:52,407,717...52,470,163 		JBrowse link
G Ccdc88b coiled-coil domain containing 88B ISO CTD Direct Evidence: marker/mechanism CTD PMID:25642632 NCBI chr 1:204,036,913...204,052,878
Ensembl chr 1:204,036,918...204,052,970 		JBrowse link
G Cd8a CD8 subunit alpha exacerbates ISO mRNA:increased expression:blood (human) RGD PMID:31784594 RGD:124715449 NCBI chr 4:103,365,804...103,370,041
Ensembl chr 4:103,365,804...103,370,040 		JBrowse link
G Il10 interleukin 10 ISO ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 ClinVar PMID:28492532 NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313 		JBrowse link
G Il17a interleukin 17A severity ISO mRNA:decreased expression:epidermis (human) RGD PMID:22641009 RGD:8698644 NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889 		JBrowse link
G Il19 interleukin 19 ISO ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 ClinVar PMID:28492532 NCBI chr13:42,397,715...42,411,637
Ensembl chr13:42,399,138...42,405,473 		JBrowse link
G Il23r interleukin 23 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:22019778 NCBI chr 4:96,580,568...96,672,540
Ensembl chr 4:96,580,714...96,674,021 		JBrowse link
G Lacc1 laccase domain containing 1 ISO ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 ClinVar PMID:25741868 NCBI chr15:52,390,267...52,407,630
Ensembl chr15:52,395,183...52,407,545 		JBrowse link
G Lrrk2 leucine-rich repeat kinase 2 ISO ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 7:122,826,696...122,987,711
Ensembl chr 7:122,826,696...122,987,703 		JBrowse link
G Lta lymphotoxin alpha susceptibility ISO ClinVar Annotator: match by term: Leprosy, early-onset, susceptibility to
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 PMID:15052269 PMID:17353895 NCBI chr20:3,618,853...3,621,324
Ensembl chr20:3,618,853...3,620,859 		JBrowse link
G Mrc1 mannose receptor, C type 1 ISO ClinVar Annotator: match by term: Susceptibility to leprosy and multibacillary leprosy ClinVar PMID:20035344 NCBI chr17:77,249,187...77,330,857
Ensembl chr17:77,249,187...77,330,857 		JBrowse link
G Nod2 nucleotide-binding oligomerization domain containing 2 ISO DNA:polymorphisms: :multiple (human)
ClinVar Annotator: match by term: Leprosy, susceptibility to, 1		 ClinVar
RGD		 PMID:25741868 PMID:20350193 RGD:5508743 NCBI chr19:18,382,369...18,422,817
Ensembl chr19:18,382,439...18,417,177 		JBrowse link
G Parl presenilin associated, rhomboid-like ISO ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 ClinVar NCBI chr11:80,594,059...80,620,506
Ensembl chr11:80,593,192...80,620,506 		JBrowse link
G Pink1 PTEN induced kinase 1 ISO ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 ClinVar NCBI chr 5:150,530,523...150,542,635
Ensembl chr 5:150,530,523...150,542,635 		JBrowse link
G Prkn parkin RBR E3 ubiquitin protein ligase ISO ClinVar Annotator: match by term: LPRS2 ClinVar PMID:10072423 PMID:11558785 PMID:11889248 PMID:12114481 PMID:12730996 More... NCBI chr 1:48,688,651...49,882,520
Ensembl chr 1:48,690,556...49,882,555 		JBrowse link
G Rab32 RAB32, member RAS oncogene family ISO CTD Direct Evidence: marker/mechanism CTD PMID:22019778 NCBI chr 1:4,946,193...4,961,003
Ensembl chr 1:4,945,036...4,960,934 		JBrowse link
G Ripk2 receptor-interacting serine-threonine kinase 2 ISO ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 ClinVar NCBI chr 5:29,630,806...29,662,804
Ensembl chr 5:29,631,570...29,662,657 		JBrowse link
G RT1-Db1 RT1 class II, locus Db1 susceptibility ISO DNA:polymorphisms (human) RGD PMID:20003324 PMID:19698125 RGD:5147585, RGD:5147788 NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258 		JBrowse link
G Slc11a1 solute carrier family 11 member 1 susceptibility ISO DNA:repeat:promoter (human)
CTD Direct Evidence: marker/mechanism
DNA:polymorphisms, haplotype (human)		 CTD
RGD		 PMID:16597321 PMID:15755200 PMID:10608779 RGD:5684957, RGD:5684972 NCBI chr 9:75,957,193...75,968,115
Ensembl chr 9:75,957,316...75,968,101 		JBrowse link
G Tlr1 toll-like receptor 1 susceptibility ISO DNA:snp:cds:p.I602S (human)
ClinVar Annotator: match by term: LPRS1 | ClinVar Annotator: match by term: TLR1-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD
RGD		 PMID:17475868 PMID:17548585 PMID:18461142 PMID:19456232 PMID:23105135 More... RGD:7246917 NCBI chr14:43,384,127...43,396,765
Ensembl chr14:43,384,932...43,397,125 		JBrowse link
G Tlr2 toll-like receptor 2 susceptibility ISO DNA:polymorphisms:microsatellite,597C>T(human)
ClinVar Annotator: match by term: Leprosy, susceptibility to, 3
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM
RGD		 PMID:11476982 PMID:12646604 PMID:15726416 PMID:19111445 PMID:25741868 More... RGD:8553055 NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630 		JBrowse link
G Tlr6 toll-like receptor 6 ISO ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 ClinVar NCBI chr14:43,362,164...43,374,500
Ensembl chr14:43,362,164...43,375,685 		JBrowse link
G Tnf tumor necrosis factor susceptibility ISO DNA:SNP:promoter:−308G>A (human) RGD PMID:20650301 RGD:8694069 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629 		JBrowse link
G Tnfsf15 TNF superfamily member 15 ISO ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 ClinVar NCBI chr 5:77,134,885...77,156,171
Ensembl chr 5:77,139,878...77,156,228 		JBrowse link
G Tnfsf8 TNF superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25320285 NCBI chr 5:77,250,942...77,277,364
Ensembl chr 5:77,251,373...77,277,421 		JBrowse link
Multibacillary Leprosy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ggt1 gamma-glutamyltransferase 1 ISO protein:increased activity:blood: RGD PMID:1680936 RGD:14747017 NCBI chr20:13,074,695...13,104,095
Ensembl chr20:13,074,700...13,108,442 		JBrowse link
G RT1-Db1 RT1 class II, locus Db1 ISO DNA:polymorphism (human) RGD PMID:20353806 RGD:5147577 NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258 		JBrowse link
G Slc11a1 solute carrier family 11 member 1 ISO DNA:insertion/deletion:3' utr (human) RGD PMID:11791966 RGD:5684970 NCBI chr 9:75,957,193...75,968,115
Ensembl chr 9:75,957,316...75,968,101 		JBrowse link
Nonseminomatous Germ Cell Tumor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Germ cell tumor, nonseminomatous ClinVar PMID:12068308 PMID:12198537 PMID:12447372 PMID:12619120 PMID:12644542 More... NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463 		JBrowse link
orchitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccl2 C-C motif chemokine ligand 2 IEP protein:increased expression:testicle, fluid (rat) RGD PMID:14638441 RGD:1358455 NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226 		JBrowse link
G Ccl5 C-C motif chemokine ligand 5 IDA RGD PMID:11897701 RGD:704384 NCBI chr10:68,322,826...68,327,380
Ensembl chr10:68,322,829...68,327,377 		JBrowse link
G Ccr5 C-C motif chemokine receptor 5 severity IEP RGD PMID:22351899 RGD:6767571 NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260 		JBrowse link
G Cd86 CD86 molecule IEP protein:increased expression:testis, macrophage (rat) RGD PMID:18381617 RGD:4892229 NCBI chr11:64,142,193...64,200,816
Ensembl chr11:64,163,828...64,200,818 		JBrowse link
G Il6r interleukin 6 receptor IEP protein:increased expression:male germ cell RGD PMID:16458979 RGD:1625434 NCBI chr 2:175,289,157...175,347,719
Ensembl chr 2:175,298,686...175,347,536 		JBrowse link
G Pecam1 platelet and endothelial cell adhesion molecule 1 IEP protein:increased expression:testes, endothelial cells (rat) RGD PMID:22351899 RGD:6767571 NCBI chr10:91,590,521...91,652,279
Ensembl chr10:91,590,521...91,652,116 		JBrowse link
Paucibacillary Leprosy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ggt1 gamma-glutamyltransferase 1 ISO protein:increased activity:blood: RGD PMID:1680936 RGD:14747017 NCBI chr20:13,074,695...13,104,095
Ensembl chr20:13,074,700...13,108,442 		JBrowse link
Skeletal Defects, Genital Hypoplasia, And Mental Retardation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zbtb16 zinc finger and BTB domain containing 16 ISO ClinVar Annotator: match by term: SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT ClinVar PMID:11891687 PMID:18611983 NCBI chr 8:48,989,376...49,177,011
Ensembl chr 8:48,994,566...49,177,011 		JBrowse link
spermatic cord torsion term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Casp3 caspase 3 IEP RGD PMID:29250764 RGD:13782294 NCBI chr16:45,662,910...45,681,171
Ensembl chr16:45,662,910...45,684,648 		JBrowse link
G Gpx3 glutathione peroxidase 3 treatment IEP RGD PMID:24440694 RGD:401827921 NCBI chr10:39,028,624...39,036,695
Ensembl chr10:39,028,570...39,037,035 		JBrowse link
spermatocytoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 More... NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341 		JBrowse link
G Hras HRas proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Spermatocytic seminoma ClinVar PMID:12727991 PMID:19855393 PMID:25741868 PMID:31775759 NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615 		JBrowse link
G Lrrc56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: Spermatocytic seminoma ClinVar PMID:12727991 PMID:19855393 PMID:25741868 PMID:31775759 NCBI chr 1:196,299,843...196,315,170
Ensembl chr 1:196,299,846...196,315,172 		JBrowse link
Testicular Anomalies with or without Congenital Heart Disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gata4 GATA binding protein 4 ISO ClinVar Annotator: match by term: Testicular anomalies with or without congenital heart disease OMIM
ClinVar		 PMID:9536098 PMID:15863664 PMID:17576681 PMID:17643447 PMID:18672102 More... NCBI chr15:37,459,601...37,531,291
Ensembl chr15:37,459,601...37,505,636 		JBrowse link
testicular cancer term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bcl10 BCL10, immune signaling adaptor ISO ClinVar Annotator: match by term: Malignant tumor of testis ClinVar PMID:10582682 NCBI chr 2:234,840,880...234,850,520
Ensembl chr 2:234,840,858...234,850,523 		JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Cancer of the testes ClinVar PMID:1908846 PMID:7649548 PMID:7670477 PMID:7702086 PMID:7773297 More... NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341 		JBrowse link
G Gstp1 glutathione S-transferase pi 1 ISO RGD PMID:9111193 RGD:6906883 NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226 		JBrowse link
G Kit KIT proto-oncogene receptor tyrosine kinase ISO ClinVar Annotator: match by term: Cancer of the testes | ClinVar Annotator: match by term: Malignant tumor of testis ClinVar PMID:25741868 PMID:28492532 PMID:28724667 PMID:31350202 NCBI chr14:32,547,459...32,624,694
Ensembl chr14:32,548,877...32,624,652 		JBrowse link
G Slco1b2 solute carrier organic anion transporter family member 1B2 ISO mRNA:decreased expression:testis (human) RGD PMID:21625523 RGD:152995425 NCBI chr 4:174,551,463...174,619,988
Ensembl chr 4:174,551,480...174,619,981 		JBrowse link
G Stk11 serine/threonine kinase 11 ISO ClinVar Annotator: match by term: Cancer of the testes | ClinVar Annotator: match by term: Malignant tumor of testis ClinVar PMID:9605748 PMID:9887330 PMID:25741868 PMID:26467025 PMID:28135145 More... NCBI chr 7:9,574,553...9,591,315
Ensembl chr 7:9,575,269...9,591,315 		JBrowse link
testicular germ cell cancer term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Germ cell tumor of testis ClinVar PMID:7647778 PMID:8078586 PMID:8723101 PMID:8723106 PMID:8841188 More... NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341 		JBrowse link
G Kit KIT proto-oncogene receptor tyrosine kinase ISO ClinVar Annotator: match by term: Germ cell tumor of testis ClinVar PMID:10362788 PMID:25741868 PMID:26822237 PMID:28492532 NCBI chr14:32,547,459...32,624,694
Ensembl chr14:32,548,877...32,624,652 		JBrowse link
G Stk11 serine/threonine kinase 11 ISO ClinVar Annotator: match by term: Germ cell tumor of testis ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 7:9,574,553...9,591,315
Ensembl chr 7:9,575,269...9,591,315 		JBrowse link
Testicular Germ Cell Tumor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alox12b arachidonate 12-lipoxygenase, 12R type ISO CTD Direct Evidence: marker/mechanism CTD PMID:30258081 NCBI chr10:53,863,060...53,874,938
Ensembl chr10:53,863,060...53,874,938 		JBrowse link
G Alox5 arachidonate 5-lipoxygenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:30258081 NCBI chr 4:149,531,329...149,578,696
Ensembl chr 4:149,531,515...149,578,743 		JBrowse link
G Bcl10 BCL10, immune signaling adaptor ISO ClinVar Annotator: match by term: MALE GERM CELL TUMOR, SOMATIC
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9989495 PMID:10380920 PMID:10408400 PMID:25365219 PMID:28492532 More... NCBI chr 2:234,840,880...234,850,520
Ensembl chr 2:234,840,858...234,850,523 		JBrowse link
G Birc2 baculoviral IAP repeat-containing 2 exacerbates ISO mRNA:increased expression:testis (human) RGD PMID:31964418 RGD:153344516 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 exacerbates ISO mRNA:increased expression:testis (human) RGD PMID:31964418 RGD:153344516 NCBI chr 8:5,000,844...5,028,470
Ensembl chr 8:5,000,845...5,015,802 		JBrowse link
G Birc5 baculoviral IAP repeat-containing 5 exacerbates ISO mRNA:increased expression:testis (human) RGD PMID:31964418 RGD:153344516 NCBI chr10:103,072,530...103,081,382
Ensembl chr10:103,073,408...103,081,380 		JBrowse link
G Birc6 baculoviral IAP repeat-containing 6 disease_progression ISO mRNA:decreased expression:testis (human) RGD PMID:31964418 RGD:153344516 NCBI chr 6:20,722,922...20,916,396
Ensembl chr 6:20,722,922...20,916,434 		JBrowse link
G Dazl deleted in azoospermia-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:23666240 NCBI chr 9:10,695,593...10,712,330
Ensembl chr 9:10,695,592...10,712,323 		JBrowse link
G Eif2s2 eukaryotic translation initiation factor 2 subunit beta ISO RGD PMID:19168544 RGD:10755431 NCBI chr 3:143,374,652...143,395,460
Ensembl chr 3:143,373,686...143,395,432 		JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Testicular germ cell tumor
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:7647778 PMID:8078586 PMID:8723101 PMID:8723106 PMID:8841188 More... NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341 		JBrowse link
G Hpgds hematopoietic prostaglandin D synthase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23666239 NCBI chr 4:94,368,426...94,397,931
Ensembl chr 4:94,373,342...94,397,883 		JBrowse link
G Kit KIT proto-oncogene receptor tyrosine kinase ISO ClinVar Annotator: match by term: Germ cell tumor of testis | ClinVar Annotator: match by term: Testicular germ cell tumor
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:10362788 PMID:25741868 PMID:26822237 PMID:28492532 NCBI chr14:32,547,459...32,624,694
Ensembl chr14:32,548,877...32,624,652 		JBrowse link
G Mad1l1 mitotic arrest deficient 1 like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23666239 NCBI chr12:14,320,892...14,630,750
Ensembl chr12:14,320,892...14,630,703 		JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22321834 NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870 		JBrowse link
G Naip6 NLR family, apoptosis inhibitory protein 6 exacerbates ISO mRNA:increased expression:testis (human) RGD PMID:31964418 RGD:153344516 NCBI chr 2:31,507,423...31,559,098
Ensembl chr 2:31,507,424...31,570,542 		JBrowse link
G Pitx1 paired-like homeodomain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23666240 NCBI chr17:8,794,134...8,800,292
Ensembl chr17:8,794,134...8,800,291 		JBrowse link
G Prdm14 PR/SET domain 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23666240 NCBI chr 5:6,082,163...6,092,712
Ensembl chr 5:6,082,442...6,092,712 		JBrowse link
G Rfwd3 ring finger and WD repeat domain 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23666239 NCBI chr19:39,235,883...39,268,479
Ensembl chr19:39,236,787...39,268,479 		JBrowse link
G Sall4 spalt-like transcription factor 4 ISO protein:increased expression:testis (human) RGD PMID:19390421 RGD:11556205 NCBI chr 3:157,474,067...157,491,055
Ensembl chr 3:157,474,642...157,490,822 		JBrowse link
G Stk11 serine/threonine kinase 11 ISO ClinVar Annotator: match by term: Germ cell tumor of testis | ClinVar Annotator: match by term: Testicular germ cell tumor
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 7:9,574,553...9,591,315
Ensembl chr 7:9,575,269...9,591,315 		JBrowse link
Testicular Injury term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 treatment IEP RGD PMID:27130490 RGD:14700916 NCBI chr 1:195,840,330...195,850,728
Ensembl chr 1:195,840,058...195,864,023 		JBrowse link
G Fas Fas cell surface death receptor ISO mRNA:increased expression:testis (rat) RGD PMID:9112408 RGD:8662900 NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591 		JBrowse link
G Fto FTO, alpha-ketoglutarate dependent dioxygenase IEP mRNA:decreased expression:testis RGD PMID:31923814 RGD:329951021 NCBI chr19:15,284,898...15,692,142
Ensembl chr19:15,349,696...15,692,083 		JBrowse link
G G6pd glucose-6-phosphate dehydrogenase treatment IEP RGD PMID:25446862 RGD:10401887 NCBI chr  X:152,201,081...152,220,863
Ensembl chr  X:152,201,098...152,220,801 		JBrowse link
G Gsr glutathione-disulfide reductase treatment IEP RGD PMID:25446862 RGD:10401887 NCBI chr16:58,482,209...58,525,256
Ensembl chr16:58,482,505...58,525,661 		JBrowse link
testicular lymphoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myd88 MYD88, innate immune signal transduction adaptor ISO associated with diffuse large B-cell lymphoma;DNA:missense mutation:CDS:p.L265P (human) RGD PMID:28868954 RGD:150524335 NCBI chr 8:119,074,439...119,078,508
Ensembl chr 8:119,074,437...119,079,415 		JBrowse link
Testicular Neoplasms term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alox12 arachidonate 12-lipoxygenase, 12S type ISO protein:increased expression:testis RGD PMID:14767568 RGD:2315609 NCBI chr10:54,958,263...54,970,542
Ensembl chr10:54,958,271...54,970,542 		JBrowse link
G Atf7ip activating transcription factor 7 interacting protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:20543847 NCBI chr 4:169,385,872...169,471,652
Ensembl chr 4:169,385,872...169,471,650 		JBrowse link
G Bap1 BRCA1 associated deubiquitinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25231345 NCBI chr16:6,446,709...6,455,535
Ensembl chr16:6,446,709...6,455,535 		JBrowse link
G Ccna1 cyclin A1 ISO mRNA:decreased expression:testis (human) RGD PMID:15800920 RGD:2289152 NCBI chr 2:139,231,738...139,278,066
Ensembl chr 2:139,201,074...139,243,157 		JBrowse link
G Ccnd2 cyclin D2 ISO mRNA:increased expression:testis RGD PMID:15800920 RGD:2289152 NCBI chr 4:159,966,883...159,989,261
Ensembl chr 4:159,962,363...159,989,495 		JBrowse link
G Cdkn1b cyclin-dependent kinase inhibitor 1B ISO protein:decreased expression:testis RGD PMID:11376116 RGD:2293610 NCBI chr 4:167,760,067...167,765,177
Ensembl chr 4:167,760,181...167,764,982 		JBrowse link
G Dmrt1 doublesex and mab-3 related transcription factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20543847 NCBI chr 1:223,142,859...223,241,333
Ensembl chr 1:223,142,859...223,241,333 		JBrowse link
G Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:19956886 NCBI chr 1:78,971,310...79,007,963
Ensembl chr 1:78,996,390...79,007,963 		JBrowse link
G Ercc4 ERCC excision repair 4, endonuclease catalytic subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:19956886 NCBI chr10:2,416,259...2,448,364
Ensembl chr10:2,419,038...2,448,369
Ensembl chr10:2,419,038...2,448,369 		JBrowse link
G Fgf9 fibroblast growth factor 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:33172093 NCBI chr15:32,208,993...32,254,952
Ensembl chr15:32,210,074...32,253,309 		JBrowse link
G Gstm1 glutathione S-transferase mu 1 ISO DNA:deletion RGD PMID:18162130 RGD:2293826 NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411 		JBrowse link
G Kitlg KIT ligand ISO CTD Direct Evidence: marker/mechanism CTD PMID:19483681 PMID:19483682 NCBI chr 7:34,896,075...34,977,215
Ensembl chr 7:34,896,053...34,977,214 		JBrowse link
G Klk10 kallikrein related-peptidase 10 ISO mRNA, protein:decreased expression:testis RGD PMID:11920956 RGD:2314851 NCBI chr 1:94,234,536...94,239,369
Ensembl chr 1:94,235,096...94,239,376 		JBrowse link
G Mgmt O-6-methylguanine-DNA methyltransferase ISO DNA:hypermethylation:promoter (human) RGD PMID:12483540 RGD:2317686 NCBI chr 1:191,710,980...191,937,760
Ensembl chr 1:191,710,930...191,937,756 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G Rnf4 ring finger protein 4 ISO mRNA:decreased expression:testes (human) RGD PMID:14644130 RGD:9831408 NCBI chr14:76,401,292...76,423,270
Ensembl chr14:76,401,299...76,422,566 		JBrowse link
G Smad1 SMAD family member 1 ISO RGD PMID:17967875 RGD:2299978 NCBI chr19:28,513,130...28,573,665
Ensembl chr19:28,513,131...28,573,651 		JBrowse link
G Smad5 SMAD family member 5 ISO RGD PMID:17967875 RGD:2299978 NCBI chr17:7,862,332...7,891,678
Ensembl chr17:7,864,720...7,891,634 		JBrowse link
Testis Reperfusion Injury term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apaf1 apoptotic peptidase activating factor 1 treatment IEP RGD PMID:27748062 RGD:13703108 NCBI chr 7:25,494,143...25,579,540
Ensembl chr 7:25,494,609...25,579,540 		JBrowse link
G Bax BCL2 associated X, apoptosis regulator IEP RGD PMID:26754107 RGD:11555349 NCBI chr 1:95,940,001...95,945,407
Ensembl chr 1:95,938,808...95,945,368 		JBrowse link
G Bcl2 BCL2, apoptosis regulator IEP RGD PMID:26754107 RGD:11555349 NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743
Ensembl chr13:22,684,989...22,853,743 		JBrowse link
G Casp3 caspase 3 IEP RGD PMID:26754107 RGD:11555349 NCBI chr16:45,662,910...45,681,171
Ensembl chr16:45,662,910...45,684,648 		JBrowse link
G Casp9 caspase 9 IEP RGD PMID:26754107 RGD:11555349 NCBI chr 5:154,108,872...154,126,628
Ensembl chr 5:154,109,046...154,126,626 		JBrowse link
G Hif1a hypoxia inducible factor 1 subunit alpha IEP protein:increased expression:testes (rat) RGD PMID:12193413 RGD:632997 NCBI chr 6:92,624,059...92,669,262
Ensembl chr 6:92,624,390...92,669,261 		JBrowse link
G Hmox1 heme oxygenase 1 treatment IMP RGD PMID:23142244 RGD:10755740 NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079 		JBrowse link
G Mapk1 mitogen activated protein kinase 1 treatment IMP RGD PMID:15944243 RGD:13800876 NCBI chr11:83,957,813...84,023,629
Ensembl chr11:83,957,813...84,023,616 		JBrowse link
G Mapk3 mitogen activated protein kinase 3 treatment IMP RGD PMID:15944243 RGD:13800876 NCBI chr 1:181,366,646...181,372,863
Ensembl chr 1:181,366,637...181,372,863 		JBrowse link
G Nos3 nitric oxide synthase 3 IEP protein:increased expression:testis RGD PMID:18205898 RGD:2292105 NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166 		JBrowse link
G Uchl5 ubiquitin C-terminal hydrolase L5 IEP mRNA, protein:decreased expression:testis RGD PMID:24189580 RGD:9588240 NCBI chr13:55,520,722...55,556,503
Ensembl chr13:55,520,729...55,556,502 		JBrowse link
G Xdh xanthine dehydrogenase treatment IDA RGD PMID:23769121 RGD:7247698 NCBI chr 6:21,530,463...21,592,172
Ensembl chr 6:21,530,113...21,592,268 		JBrowse link
tuberculoid leprosy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tap2 transporter 2, ATP binding cassette subfamily B member susceptibility ISO DNA:polymorphism: : RGD PMID:9062973 RGD:5147851 NCBI chr20:4,636,347...4,650,387
Ensembl chr20:4,636,357...4,650,407 		JBrowse link
G Vdr vitamin D receptor ISO GAD PMID:15118671 RGD:1331525 NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677 		JBrowse link
ZIEGLER-HUANG SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc30a7 solute carrier family 30 member 7 ISO ClinVar Annotator: match by term: Ziegler-Huang syndrome ClinVar
OMIM		 PMID:25741868 PMID:36821639 NCBI chr 2:203,855,484...203,922,155
Ensembl chr 2:203,859,175...203,922,132 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19137
    disease of anatomical entity 18450
      endocrine system disease 7033
        gonadal disease 1388
          testicular disease 180
            IGSF1 deficiency syndrome 4
            Sohval Soffer Syndrome 0
            Testicular Injury 5
            Testicular Microlithiasis 0
            Testicular Neoplasms + 46
            Testis Reperfusion Injury 12
            ZIEGLER-HUANG SYNDROME 1
            atrophy of testis 4
            cryptorchidism + 60
            granulomatous orchitis 0
            hematocele of tunica vaginalis testis 0
            leprosy + 35
            orchitis + 11
            spermatic cord torsion 2
            testicular gonadoblastoma 0
            testicular infarct 0
Path 2
Term Annotations click to browse term
  disease 19137
    disease of anatomical entity 18450
      Urogenital Diseases 5390
        reproductive system disease 3190
          male reproductive system disease 2044
            testicular disease 180
              IGSF1 deficiency syndrome 4
              Sohval Soffer Syndrome 0
              Testicular Injury 5
              Testicular Microlithiasis 0
              Testicular Neoplasms + 46
              Testis Reperfusion Injury 12
              ZIEGLER-HUANG SYNDROME 1
              atrophy of testis 4
              cryptorchidism + 60
              granulomatous orchitis 0
              hematocele of tunica vaginalis testis 0
              leprosy + 35
              orchitis + 11
              spermatic cord torsion 2
              testicular gonadoblastoma 0
              testicular infarct 0
paths to the root