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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:male infertility
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Accession:DOID:12336 term browser browse the term
Definition:The inability of the male to effect FERTILIZATION of an OVUM after a specified period of unprotected intercourse. Male sterility is permanent infertility.
Synonyms:exact_synonym: male sterility;   male sub-fertility;   male subfertility
 primary_id: MESH:D007248
 xref: ICD10CM:N46;   ICD9CM:606
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
male infertility term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace angiotensin I converting enzyme ISO CTD Direct Evidence: marker/mechanism CTD PMID:8642790 PMID:12075344 NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131 		JBrowse link
G Actl7a actin-like 7a ISO RGD PMID:26957350 RGD:13831339 NCBI chr 5:71,447,447...71,450,440
Ensembl chr 5:71,447,071...71,450,908 		JBrowse link
G Adamts16 ADAM metallopeptidase with thrombospondin type 1 motif, 16 IMP RGD PMID:24983376 PMID:32037220 RGD:13434925, RGD:38548917 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 Adcy10 adenylate cyclase 10 ISO ClinVar Annotator: match by term: Male infertility ClinVar NCBI chr13:77,747,752...77,833,952
Ensembl chr13:77,768,468...77,833,951 		JBrowse link
G Agfg1 ArfGAP with FG repeats 1 ISS MouseDO NCBI chr 9:84,124,878...84,178,149
Ensembl chr 9:84,125,120...84,178,128 		JBrowse link
G Ahr aryl hydrocarbon receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21613234 NCBI chr 6:52,234,089...52,271,568
Ensembl chr 6:52,234,089...52,271,568 		JBrowse link
G Akap4 A-kinase anchoring protein 4 ISO RGD PMID:12167408 RGD:632500 NCBI chr  X:15,435,391...15,445,684
Ensembl chr  X:15,435,410...15,445,684 		JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member ISO CTD Direct Evidence: marker/mechanism CTD PMID:24448831 NCBI chr12:34,949,549...34,982,527 JBrowse link
G Ar androgen receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:12220434 PMID:18554162 PMID:20164437 NCBI chr  X:63,104,771...63,273,934
Ensembl chr  X:63,104,771...63,273,925 		JBrowse link
G Arl2bp ADP-ribosylation factor like GTPase 2 binding protein ISS MouseDO NCBI chr19:10,336,921...10,346,555
Ensembl chr19:10,336,921...10,346,564 		JBrowse link
G Armc2 armadillo repeat containing 2 ISS MouseDO NCBI chr20:45,395,859...45,501,808
Ensembl chr20:45,394,127...45,504,819 		JBrowse link
G Aurkc aurora kinase C ISO CTD Direct Evidence: marker/mechanism CTD PMID:17435757 NCBI chr 1:66,843,653...66,864,348
Ensembl chr 1:66,843,653...66,864,386 		JBrowse link
G Bax BCL2 associated X, apoptosis regulator ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:24723216 PMID:7569956 RGD:734632 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 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24723216 NCBI chr13:22,689,783...22,853,920 JBrowse link
G Brwd1 bromodomain and WD repeat domain containing 1 ISO ClinVar Annotator: match by term: Male infertility ClinVar NCBI chr11:35,286,364...35,378,768
Ensembl chr11:35,288,313...35,378,768 		JBrowse link
G Bscl2 BSCL2 lipid droplet biogenesis associated, seipin ISS MouseDO NCBI chr 1:205,731,814...205,743,430
Ensembl chr 1:205,733,872...205,743,421 		JBrowse link
G Cabyr calcium binding tyrosine phosphorylation regulated ISS MouseDO NCBI chr18:3,892,062...3,904,391
Ensembl chr18:3,892,132...3,903,840 		JBrowse link
G Camk4 calcium/calmodulin-dependent protein kinase IV ISO RGD PMID:10932193 RGD:734683 NCBI chr18:24,582,988...24,811,918
Ensembl chr18:24,585,269...24,802,487 		JBrowse link
G Capza3 capping actin protein of muscle Z-line subunit alpha 3 ISO mRNA:decreased expression:semen
DNA:missense mutation: :p.M44K (human)		 RGD PMID:27114798 PMID:19341723 RGD:18899565, RGD:19165126 NCBI chr 4:172,929,273...172,930,486
Ensembl chr 4:172,928,887...172,932,535 		JBrowse link
G Catsper1 cation channel, sperm associated 1 ISO ClinVar Annotator: match by term: Male infertility ClinVar NCBI chr 1:202,643,009...202,652,059
Ensembl chr 1:202,643,038...202,651,824 		JBrowse link
G Catsper2 cation channel, sperm associated 2 ISO ClinVar Annotator: match by term: Male infertility ClinVar NCBI chr 3:108,368,654...108,389,380
Ensembl chr 3:108,368,668...108,388,050 		JBrowse link
G Cbl Cbl proto-oncogene ISO CTD Direct Evidence: marker/mechanism CTD PMID:16301331 NCBI chr 8:44,487,824...44,571,620
Ensembl chr 8:44,489,410...44,571,176 		JBrowse link
G Ccdc40 coiled-coil domain containing 40 ISO ClinVar Annotator: match by term: Male infertility ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr10:104,486,748...104,527,284
Ensembl chr10:104,486,748...104,527,243 		JBrowse link
G Cdc14a cell division cycle 14A ISO CTD Direct Evidence: marker/mechanism CTD PMID:29293958 NCBI chr 2:204,225,540...204,380,927
Ensembl chr 2:204,225,540...204,380,927 		JBrowse link
G Cfap47 cilia and flagella associated protein 47 ISS MouseDO NCBI chr  X:43,264,687...43,616,607
Ensembl chr  X:43,263,490...43,616,852 		JBrowse link
G Cftr CF transmembrane conductance regulator ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Male infertility		 CTD
ClinVar		 PMID:7739684 PMID:9804160 PMID:11547256 PMID:11883825 PMID:12124706 More... NCBI chr 4:46,561,269...46,728,759
Ensembl chr 4:46,560,885...46,728,756 		JBrowse link
G Chpt1 choline phosphotransferase 1 ISO ClinVar Annotator: match by term: Male infertility ClinVar NCBI chr 7:22,866,455...22,915,111
Ensembl chr 7:22,863,027...22,915,103 		JBrowse link
G Cldn2 claudin 2 ISO ClinVar Annotator: match by term: Male infertility ClinVar PMID:31320686 NCBI chr  X:103,459,870...103,473,794
Ensembl chr  X:103,459,780...103,474,838 		JBrowse link
G Cnot7 CCR4-NOT transcription complex, subunit 7 IEP mRNA:increased expression:testis RGD PMID:22785219 RGD:10755341 NCBI chr16:51,775,416...51,794,581
Ensembl chr16:51,775,412...51,794,576 		JBrowse link
G Csnk2a2 casein kinase 2 alpha 2 ISS MouseDO NCBI chr19:9,556,443...9,596,080
Ensembl chr19:9,556,260...9,596,080 		JBrowse link
G Cst8 cystatin 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20811015 NCBI chr 3:136,244,586...136,255,412
Ensembl chr 3:136,244,636...136,251,273 		JBrowse link
G Cyp17a1 cytochrome P450, family 17, subfamily a, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15890676 NCBI chr 1:245,535,462...245,543,148
Ensembl chr 1:245,535,462...245,541,573 		JBrowse link
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19303595 NCBI chr 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125 		JBrowse link
G Dnaaf4 dynein axonemal assembly factor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23872636 NCBI chr 8:73,696,394...73,711,315
Ensembl chr 8:73,698,103...73,711,292 		JBrowse link
G Dnah10 dynein, axonemal, heavy chain 10 ISO ClinVar Annotator: match by term: Male infertility ClinVar NCBI chr12:31,823,451...31,946,857 JBrowse link
G Dnah11 dynein, axonemal, heavy chain 11 ISO ClinVar Annotator: match by term: Male infertility ClinVar PMID:22184204 PMID:25741868 PMID:28492532 NCBI chr 6:138,839,175...139,155,554
Ensembl chr 6:138,839,177...139,155,536 		JBrowse link
G Dnah5 dynein, axonemal, heavy chain 5 ISO ClinVar Annotator: match by term: Male infertility ClinVar PMID:28492532 NCBI chr 2:78,937,788...79,255,551
Ensembl chr 2:78,937,800...79,254,890 		JBrowse link
G Dnai1 dynein, axonemal, intermediate chain 1 ISO ClinVar Annotator: match by term: Male infertility ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:56,730,179...56,800,926
Ensembl chr 5:56,730,179...56,800,925 		JBrowse link
G Drosha drosha ribonuclease III ISO CTD Direct Evidence: marker/mechanism CTD PMID:22381205 NCBI chr 2:61,864,886...61,976,688
Ensembl chr 2:61,864,970...61,976,688 		JBrowse link
G Elovl2 ELOVL fatty acid elongase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21106902 NCBI chr17:23,544,520...23,584,855
Ensembl chr17:23,544,568...23,584,848 		JBrowse link
G Eno1 enolase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27460355 NCBI chr 5:160,719,951...160,731,337
Ensembl chr 5:160,719,951...160,731,336 		JBrowse link
G Eno4 enolase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23446454 NCBI chr 1:258,096,406...258,119,811
Ensembl chr 1:258,096,432...258,128,984 		JBrowse link
G Esr1 estrogen receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20833731 PMID:23213263 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 protein:increased expression:testis (rat) RGD PMID:23441449 RGD:8663476 NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591 		JBrowse link
G Fkbp6 FKBP prolyl isomerase family member 6 ISO
IAGP		 DNA:deletion:exon (rat) RGD PMID:12764197 PMID:12764197 RGD:1582485, RGD:1582485 NCBI chr12:21,318,251...21,390,350
Ensembl chr12:21,319,568...21,390,350 		JBrowse link
G Foxk2 forkhead box K2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:32522586 NCBI chr10:106,542,643...106,592,569
Ensembl chr10:106,542,566...106,592,563 		JBrowse link
G Fshb follicle stimulating hormone subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:387166 NCBI chr 3:93,548,560...93,552,370
Ensembl chr 3:93,548,560...93,552,370 		JBrowse link
G Galntl5 polypeptide N-acetylgalactosaminyltransferase-like 5 ISO ClinVar Annotator: match by term: Male infertility ClinVar NCBI chr 4:9,873,426...9,923,297
Ensembl chr 4:9,873,428...9,923,136 		JBrowse link
G Gnat3 G protein subunit alpha transducin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23818598 NCBI chr 4:17,162,500...17,212,283
Ensembl chr 4:17,162,490...17,212,283 		JBrowse link
G Gnrh1 gonadotropin releasing hormone 1 ISO CTD Direct Evidence: therapeutic CTD PMID:20063086 NCBI chr15:41,972,482...41,976,690
Ensembl chr15:41,972,905...41,973,581
Ensembl chr15:41,972,905...41,973,581 		JBrowse link
G Gpx4 glutathione peroxidase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19417079 PMID:19744930 NCBI chr 7:9,650,186...9,652,982
Ensembl chr 7:9,650,185...9,652,982 		JBrowse link
G Hoxd11 homeobox D11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:7925020 NCBI chr 3:59,584,840...59,587,257 JBrowse link
G Kit KIT proto-oncogene receptor tyrosine kinase IAGP RGD PMID:12932303 RGD:1600050 NCBI chr14:32,547,459...32,624,694
Ensembl chr14:32,548,877...32,624,652 		JBrowse link
G Klk14 kallikrein related-peptidase 14 ISO ClinVar Annotator: match by term: Male infertility ClinVar NCBI chr 1:94,123,131...94,137,239
Ensembl chr 1:94,131,998...94,137,240 		JBrowse link
G Klk4 kallikrein-related peptidase 4 ISO ClinVar Annotator: match by term: Male infertility ClinVar NCBI chr 1:94,344,608...94,348,979
Ensembl chr 1:94,344,195...94,349,424 		JBrowse link
G Kmt2d lysine methyltransferase 2D ISO CTD Direct Evidence: marker/mechanism CTD PMID:19348672 NCBI chr 7:129,980,744...130,022,088
Ensembl chr 7:129,962,887...130,020,325 		JBrowse link
G Ldhc lactate dehydrogenase C ISO CTD Direct Evidence: marker/mechanism CTD PMID:21565994 PMID:23486916 NCBI chr 1:97,385,984...97,403,382
Ensembl chr 1:97,382,379...97,403,378 		JBrowse link
G Lhb luteinizing hormone subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:387166 PMID:10739843 PMID:15602022 NCBI chr 1:95,898,269...95,901,973
Ensembl chr 1:95,900,984...95,901,972
Ensembl chr 1:95,900,984...95,901,972 		JBrowse link
G Lhcgr luteinizing hormone/choriogonadotropin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20164437 NCBI chr 6:5,661,871...5,728,109
Ensembl chr 6:5,661,871...5,724,521 		JBrowse link
G Mdm2 MDM2 proto-oncogene ISO CTD Direct Evidence: marker/mechanism CTD PMID:22773013 NCBI chr 7:53,290,660...53,315,205
Ensembl chr 7:53,290,664...53,314,915 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility ISO CTD Direct Evidence: marker/mechanism
:DNA:polymorphism: :677C>T(human)		 CTD
RGD		 PMID:16861746 PMID:16247718 RGD:11565106 NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797 		JBrowse link
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16861746 NCBI chr17:58,219,998...58,308,560
Ensembl chr17:58,220,071...58,304,822 		JBrowse link
G Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16861746 NCBI chr 1:34,866,991...34,899,425
Ensembl chr 1:34,867,089...34,899,425 		JBrowse link
G Myo6 myosin VI ISO ClinVar Annotator: match by term: Male infertility ClinVar PMID:24033266 PMID:25741868 PMID:30311386 NCBI chr 8:81,087,157...81,242,022
Ensembl chr 8:81,087,139...81,239,292 		JBrowse link
G Nanos2 nanos C2HC-type zinc finger 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22190708 NCBI chr 1:78,635,668...78,637,128
Ensembl chr 1:78,635,668...78,637,128 		JBrowse link
G Nos3 nitric oxide synthase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25517965 NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166 		JBrowse link
G Nr1h4 nuclear receptor subfamily 1, group H, member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30245210 NCBI chr 7:23,846,122...23,942,085
Ensembl chr 7:23,846,122...23,942,047 		JBrowse link
G Nr5a1 nuclear receptor subfamily 5, group A, member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20887963 NCBI chr 3:22,464,786...22,486,328
Ensembl chr 3:22,465,502...22,486,328 		JBrowse link
G Nsun7 NOP2/Sun RNA methyltransferase family member 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17442852 NCBI chr14:41,877,500...41,935,238
Ensembl chr14:41,879,293...41,934,949 		JBrowse link
G Odad2 outer dynein arm docking complex subunit 2 ISO ClinVar Annotator: match by term: Male infertility ClinVar NCBI chr17:55,216,877...55,409,872
Ensembl chr17:55,218,991...55,409,399 		JBrowse link
G Ogg1 8-oxoguanine DNA glycosylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23376476 NCBI chr 4:146,474,701...146,481,959
Ensembl chr 4:146,474,750...146,484,766 		JBrowse link
G Pmfbp1 polyamine modulated factor 1 binding protein 1 ISS MouseDO NCBI chr19:37,443,432...37,507,880
Ensembl chr19:37,458,108...37,507,879 		JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:17923349 NCBI chr 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567 		JBrowse link
G Pon1 paraoxonase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21561808 PMID:22206979 NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360 		JBrowse link
G Rad23b RAD23 homolog B, nucleotide excision repair protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:11809813 NCBI chr 5:70,090,232...70,128,340
Ensembl chr 5:70,090,232...70,128,319 		JBrowse link
G Ranbp2 RAN binding protein 2 ISO RGD PMID:21310149 RGD:9835350 NCBI chr20:26,442,156...26,493,481
Ensembl chr20:26,442,217...26,493,481 		JBrowse link
G Rnf114 ring finger protein 114 ISO mRNA:decreased expression:testes (human) RGD PMID:12621547 RGD:1303956 NCBI chr 3:156,222,487...156,234,263
Ensembl chr 3:156,222,498...156,234,256 		JBrowse link
G Rpgr retinitis pigmentosa GTPase regulator ISO RGD PMID:18579752 RGD:8553213 NCBI chr  X:12,566,447...12,628,171
Ensembl chr  X:12,566,645...12,747,882 		JBrowse link
G Selenop selenoprotein P ISO CTD Direct Evidence: marker/mechanism CTD PMID:17961124 NCBI chr 2:52,498,123...52,508,409
Ensembl chr 2:52,498,339...52,508,852 		JBrowse link
G Smad1 SMAD family member 1 IEP protein:decreased expression:spermatogonia, spermatocytes, spermatids RGD PMID:15704675 RGD:1643234 NCBI chr19:28,513,130...28,573,665
Ensembl chr19:28,513,131...28,573,651 		JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22206979 NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189 		JBrowse link
G Sox30 SRY-box transcription factor 30 ISO ClinVar Annotator: match by term: Male infertility ClinVar NCBI chr10:30,417,499...30,446,441
Ensembl chr10:30,418,473...30,446,453 		JBrowse link
G Spata16 spermatogenesis associated 16 ISS MouseDO NCBI chr 2:109,485,287...109,865,665
Ensembl chr 2:109,485,274...109,865,659 		JBrowse link
G Stx2 syntaxin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18277055 NCBI chr12:27,678,744...27,714,751
Ensembl chr12:27,689,819...27,714,751 		JBrowse link
G Sycp3 synaptonemal complex protein 3 ISO ClinVar Annotator: match by term: Male infertility ClinVar NCBI chr 7:22,874,055...22,888,512
Ensembl chr 7:22,874,055...22,888,511 		JBrowse link
G Tas1r3 taste 1 receptor member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23818598 NCBI chr 5:166,469,589...166,472,742
Ensembl chr 5:166,469,589...166,472,742 		JBrowse link
G Tcte1 t-complex-associated testis expressed 1 ISS MouseDO NCBI chr 9:15,463,573...15,482,258
Ensembl chr 9:15,463,739...15,472,954 		JBrowse link
G Tdrd7 tudor domain containing 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21436445 NCBI chr 5:60,238,742...60,312,548
Ensembl chr 5:60,238,678...60,312,544 		JBrowse link
G Tp53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22773013 NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524 		JBrowse link
G Tsc22d3 TSC22 domain family, member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22556341 NCBI chr  X:104,217,898...104,277,935
Ensembl chr  X:104,217,925...104,276,861 		JBrowse link
G Txndc8 thioredoxin domain containing 8 ISO protein:increased expression:sperm (human) RGD PMID:15181017 RGD:1303999 NCBI chr 5:72,749,725...72,785,858
Ensembl chr 5:72,749,725...72,785,931 		JBrowse link
G Xrcc1 X-ray repair cross complementing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30998386 NCBI chr 1:80,140,495...80,168,705
Ensembl chr 1:80,141,207...80,168,701 		JBrowse link
G Zmynd15 zinc finger, MYND-type containing 15 ISO ClinVar Annotator: match by term: Male infertility ClinVar NCBI chr10:55,171,198...55,177,812
Ensembl chr10:55,171,198...55,177,812 		JBrowse link
aromatase excess syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp19a1 cytochrome P450, family 19, subfamily a, polypeptide 1 ISO ClinVar Annotator: match by term: Aromatase excess syndrome
ClinVar Annotator: match by term: Aromatase deficiency
ClinVar Annotator: match by OMIM:613546
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1496995 PMID:1825497 PMID:2973313 PMID:8265607 PMID:8530621 More... NCBI chr 8:54,553,165...54,580,758
Ensembl chr 8:54,553,165...54,580,758 		JBrowse link
Asthenozoospermia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bscl2 BSCL2 lipid droplet biogenesis associated, seipin ISO CTD Direct Evidence: marker/mechanism CTD PMID:26181198 NCBI chr 1:205,731,814...205,743,430
Ensembl chr 1:205,733,872...205,743,421 		JBrowse link
G Cfap251 cilia and flagella associated protein 251 ISO ClinVar Annotator: match by term: asthenozoospermia ClinVar PMID:30122541 NCBI chr12:33,261,622...33,337,028
Ensembl chr12:33,261,476...33,293,932 		JBrowse link
G Gstt1 glutathione S-transferase theta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19303595 NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585 		JBrowse link
G Plau plasminogen activator, urokinase IEP
ISO		 mRNA, protein:decreased expression:testes, epididymis (rat)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:18998460 PMID:18998460 RGD:7241809 NCBI chr15:3,456,230...3,462,732
Ensembl chr15:3,456,232...3,462,775 		JBrowse link
autosomal recessive congenital bilateral absence of vas deferens term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adgrg2 adhesion G protein-coupled receptor G2 ISO ClinVar Annotator: match by term: Congenital bilateral aplasia of vas deferens from CFTR mutation ClinVar PMID:25741868 PMID:27476656 NCBI chr  X:34,297,402...34,422,590
Ensembl chr  X:34,297,402...34,422,609 		JBrowse link
G Cftr CF transmembrane conductance regulator ISO ClinVar Annotator: match by term: Congenital bilateral aplasia of vas deferens from CFTR mutation ClinVar
OMIM		 PMID:1283148 PMID:1283149 PMID:1284534 PMID:1284538 PMID:1284540 More... NCBI chr 4:46,561,269...46,728,759
Ensembl chr 4:46,560,885...46,728,756 		JBrowse link
azoospermia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alb albumin ISO CTD Direct Evidence: therapeutic CTD PMID:27289041 NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836 		JBrowse link
G Aurkc aurora kinase C ISO ClinVar Annotator: match by term: Spermatogenic Failure ClinVar NCBI chr 1:66,843,653...66,864,348
Ensembl chr 1:66,843,653...66,864,386 		JBrowse link
G Bcl2 BCL2, apoptosis regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:20610805 NCBI chr13:22,689,783...22,853,920 JBrowse link
G Bcl2l2 Bcl2-like 2 ISO RGD PMID:9770502 RGD:14394611 NCBI chr15:28,346,449...28,361,627
Ensembl chr15:28,356,807...28,361,624 		JBrowse link
G Brdt bromodomain testis associated susceptibility ISO protein:decreased expression:testis:
DNA:SNP: :rs3088232(human)		 RGD PMID:22035730 PMID:22016351 RGD:9586359, RGD:9586360 NCBI chr14:2,421,094...2,445,842
Ensembl chr14:2,387,796...2,445,842 		JBrowse link
G Bscl2 BSCL2 lipid droplet biogenesis associated, seipin IMP RGD PMID:25934999 RGD:11085488 NCBI chr 1:205,731,814...205,743,430
Ensembl chr 1:205,733,872...205,743,421 		JBrowse link
G Bscl2m1Kyo BSCL2, seipin lipid droplet biogenesis associated; ENU induced mutant1, Kyo IMP RGD PMID:25934999 RGD:11085488
G Cftr CF transmembrane conductance regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:10856487 NCBI chr 4:46,561,269...46,728,759
Ensembl chr 4:46,560,885...46,728,756 		JBrowse link
G Chpt1 choline phosphotransferase 1 ISO ClinVar Annotator: match by term: Spermatogenic Failure ClinVar NCBI chr 7:22,866,455...22,915,111
Ensembl chr 7:22,863,027...22,915,103 		JBrowse link
G Epas1 endothelial PAS domain protein 1 ISO RGD PMID:14608355 RGD:734934 NCBI chr 6:7,790,236...7,871,246
Ensembl chr 6:7,790,647...7,871,228 		JBrowse link
G Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit susceptibility ISO DNA:snp:3' utr:c.8092C>A (human) RGD PMID:18616887 RGD:13207429 NCBI chr 1:78,971,310...79,007,963
Ensembl chr 1:78,996,390...79,007,963 		JBrowse link
G Gopc golgi associated PDZ and coiled-coil motif containing ISS OMIM:102530 | OMIM:108420 | OMIM:243060 | OMIM:258150 | OMIM:270960 | OMIM:309120 | OMIM:415000 | OMIM:606766 | OMIM:612997 | OMIM:613957 | OMIM:613958 | OMIM:614822 | OMIM:615081 | OMIM:615413 | OMIM:615841 | OMIM:615842 MouseDO NCBI chr20:31,727,617...31,776,928
Ensembl chr20:31,727,620...31,776,903 		JBrowse link
G Hsd17b10 hydroxysteroid (17-beta) dehydrogenase 10 ISO mRNA:increased expression:testis RGD PMID:9851691 RGD:13792783 NCBI chr  X:21,089,152...21,091,597
Ensembl chr  X:21,089,122...21,109,488 		JBrowse link
G Nlrp14 NLR family, pyrin domain containing 14 ISO ClinVar Annotator: match by term: Spermatogenic Failure ClinVar PMID:16931801 PMID:20981092 PMID:22344438 PMID:24033266 PMID:25741868 NCBI chr 1:161,069,141...161,089,158
Ensembl chr 1:161,061,165...161,089,222 		JBrowse link
G Sohlh1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 ISO ClinVar Annotator: match by term: Spermatogenic Failure ClinVar PMID:20506135 PMID:28492532 PMID:28718531 NCBI chr 3:8,662,995...8,667,521
Ensembl chr 3:8,663,318...8,667,388 		JBrowse link
G Spata16 spermatogenesis associated 16 ISO ClinVar Annotator: match by term: Spermatogenic Failure ClinVar NCBI chr 2:109,485,287...109,865,665
Ensembl chr 2:109,485,274...109,865,659 		JBrowse link
G Sycp3 synaptonemal complex protein 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Spermatogenic Failure		 CTD
ClinVar		 PMID:14643120 NCBI chr 7:22,874,055...22,888,512
Ensembl chr 7:22,874,055...22,888,511 		JBrowse link
AZOOSPERMIA, OBSTRUCTIVE, WITH NEPHROLITHIASIS term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cldn2 claudin 2 ISO ClinVar Annotator: match by term: AZOOSPERMIA, OBSTRUCTIVE, WITH NEPHROLITHIASIS ClinVar
OMIM		 PMID:31320686 NCBI chr  X:103,459,870...103,473,794
Ensembl chr  X:103,459,780...103,474,838 		JBrowse link
congenital bilateral absence of vas deferens term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adgrg2 adhesion G protein-coupled receptor G2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr  X:34,297,402...34,422,590
Ensembl chr  X:34,297,402...34,422,609 		JBrowse link
G Cftr CF transmembrane conductance regulator ISO
IMP		 CTD Direct Evidence: marker/mechanism
associated with Cystic Fibrosis
DNA:deletion, missense mutations: :multiple
DNA:deletion, nonsense mutations, missense mutations: :multiple		 CTD
RGD		 PMID:10875853 PMID:11119745 PMID:24608905 PMID:10653141 PMID:11119745 RGD:11566051, RGD:11566040, RGD:11566027 NCBI chr 4:46,561,269...46,728,759
Ensembl chr 4:46,560,885...46,728,756 		JBrowse link
CRYPTOZOOSPERMIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G M1ap meiosis 1 associated protein ISO ClinVar Annotator: match by term: Cryptozoospermia ClinVar PMID:25741868 PMID:32673564 NCBI chr 4:115,445,910...115,536,745
Ensembl chr 4:115,455,397...115,536,487 		JBrowse link
G Sycp2 synaptonemal complex protein 2 ISO ClinVar Annotator: match by term: Cryptozoospermia ClinVar PMID:25741868 PMID:31866047 NCBI chr 3:165,431,715...165,502,134
Ensembl chr 3:165,436,331...165,498,789 		JBrowse link
G Trim71 tripartite motif containing 71 ISO ClinVar Annotator: match by term: Cryptozoospermia ClinVar PMID:25741868 NCBI chr 8:114,193,439...114,250,807
Ensembl chr 8:114,199,187...114,250,807 		JBrowse link
Globozoospermia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Spata16 spermatogenesis associated 16 ISO ClinVar Annotator: match by term: Globozoospermia ClinVar PMID:17847006 PMID:24265589 PMID:28492532 PMID:29065458 NCBI chr 2:109,485,287...109,865,665
Ensembl chr 2:109,485,274...109,865,659 		JBrowse link
hypogonadotropic hypogonadism 24 without anosmia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fshb follicle stimulating hormone subunit beta ISO ClinVar Annotator: match by term: isolated follicle-stimulating hormone deficiency
ClinVar Annotator: match by term: Follicle-stimulating hormone deficiency, isolated
ClinVar Annotator: match by OMIM:229070		 OMIM
ClinVar		 PMID:4344039 PMID:8220432 PMID:9271483 PMID:9280841 PMID:9624193 More... NCBI chr 3:93,548,560...93,552,370
Ensembl chr 3:93,548,560...93,552,370 		JBrowse link
Morbid Obesity and Spermatogenic Failure term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cep19 centrosomal protein 19 ISO ClinVar Annotator: match by term: Morbid obesity and spermatogenic failure OMIM
ClinVar		 PMID:24268657 PMID:28492532 NCBI chr11:68,677,869...68,687,117
Ensembl chr11:68,677,871...68,687,022 		JBrowse link
oligoasthenoteratozoospermia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cfap58 cilia and flagella associated protein 58 ISS MouseDO NCBI chr 1:246,802,681...246,911,363
Ensembl chr 1:246,802,665...246,911,374 		JBrowse link
G Spata20 spermatogenesis associated 20 ISS MouseDO NCBI chr10:79,427,525...79,435,472
Ensembl chr10:79,427,528...79,434,368 		JBrowse link
oligospermia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bckdk branched chain ketoacid dehydrogenase kinase IAGP DNA:missense mutation:cds:G369E (rat) RGD PMID:27472223 RGD:39131293 NCBI chr 1:182,515,335...182,520,007
Ensembl chr 1:182,515,327...182,536,633 		JBrowse link
G Brdt bromodomain testis associated susceptibility ISO DNA:SNP: :rs3088232(human) RGD PMID:22016351 RGD:9586360 NCBI chr14:2,421,094...2,445,842
Ensembl chr14:2,387,796...2,445,842 		JBrowse link
G Brwd1 bromodomain and WD repeat domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18353305 NCBI chr11:35,286,364...35,378,768
Ensembl chr11:35,288,313...35,378,768 		JBrowse link
G Bscl2 BSCL2 lipid droplet biogenesis associated, seipin ISO CTD Direct Evidence: marker/mechanism CTD PMID:26181198 NCBI chr 1:205,731,814...205,743,430
Ensembl chr 1:205,733,872...205,743,421 		JBrowse link
G Cdc14a cell division cycle 14A ISO CTD Direct Evidence: marker/mechanism CTD PMID:29293958 NCBI chr 2:204,225,540...204,380,927
Ensembl chr 2:204,225,540...204,380,927 		JBrowse link
G Cga glycoprotein hormones, alpha polypeptide ISO CTD Direct Evidence: therapeutic CTD PMID:16483355 NCBI chr 5:49,486,915...49,499,192
Ensembl chr 5:49,487,068...49,499,191 		JBrowse link
G Dicer1 dicer 1 ribonuclease III ISO CTD Direct Evidence: marker/mechanism CTD PMID:22381205 NCBI chr 6:123,627,529...123,692,278
Ensembl chr 6:123,631,250...123,693,965 		JBrowse link
G Esr1 estrogen receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20833731 NCBI chr 1:41,106,335...41,499,104
Ensembl chr 1:41,210,475...41,495,002 		JBrowse link
G Fshb follicle stimulating hormone subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:4607150 NCBI chr 3:93,548,560...93,552,370
Ensembl chr 3:93,548,560...93,552,370 		JBrowse link
G Kif3b kinesin family member 3B ISO ClinVar Annotator: match by term: Oligospermia ClinVar NCBI chr 3:141,758,466...141,798,012
Ensembl chr 3:141,758,466...141,797,963 		JBrowse link
G Msh4 mutS homolog 4 ISO ClinVar Annotator: match by term: Oligospermia ClinVar PMID:25741868 PMID:33448284 NCBI chr 2:242,785,392...242,844,609
Ensembl chr 2:242,792,661...242,843,487 		JBrowse link
G Nos3 nitric oxide synthase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29983398 NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166 		JBrowse link
G Nr0b1 nuclear receptor subfamily 0, group B, member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23384712 NCBI chr  X:50,756,886...50,761,014
Ensembl chr  X:50,756,886...50,761,011 		JBrowse link
G Piwil4 piwi-like RNA-mediated gene silencing 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20940137 NCBI chr 8:11,536,520...11,579,883
Ensembl chr 8:11,536,520...11,579,761 		JBrowse link
G Tbc1d25 TBC1 domain family, member 25 ISO ClinVar Annotator: match by term: Oligospermia ClinVar NCBI chr  X:14,314,095...14,339,171
Ensembl chr  X:14,314,414...14,338,275 		JBrowse link
G Tpcn1 two pore segment channel 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24451262 NCBI chr12:35,972,813...36,029,632
Ensembl chr12:35,972,846...36,029,626 		JBrowse link
Sensorineural Deafness and Male Infertility term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Catsper2 cation channel, sperm associated 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Deafness-infertility syndrome		 CTD
ClinVar		 PMID:19344877 PMID:24033266 PMID:25741868 NCBI chr 3:108,368,654...108,389,380
Ensembl chr 3:108,368,668...108,388,050 		JBrowse link
G Ckmt1 creatine kinase, mitochondrial 1 ISO ClinVar Annotator: match by term: Deafness-infertility syndrome ClinVar PMID:25741868 NCBI chr 3:108,329,859...108,335,760
Ensembl chr 3:108,330,705...108,335,758 		JBrowse link
G Strc stereocilin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Deafness-infertility syndrome		 CTD
ClinVar		 PMID:18414213 PMID:24033266 PMID:25741868 NCBI chr 3:108,335,920...108,355,114
Ensembl chr 3:108,335,747...108,354,134 		JBrowse link
Sertoli cell-only syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dmc1 DNA meiotic recombinase 1 ISS OMIM:305700 | OMIM:400042 MouseDO NCBI chr 7:111,124,888...111,167,465
Ensembl chr 7:111,124,888...111,167,952 		JBrowse link
G Hnrnpl heterogeneous nuclear ribonucleoprotein L ISO protein:decreased expression:testis (human) RGD PMID:22245417 RGD:9999426 NCBI chr 1:84,098,558...84,111,568
Ensembl chr 1:84,100,879...84,111,553 		JBrowse link
G Nupr1 nuclear protein 1, transcriptional regulator ISS OMIM:305700 | OMIM:400042 MouseDO NCBI chr 1:181,213,292...181,215,327 JBrowse link
spermatogenic failure term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aurkc aurora kinase C ISO ClinVar Annotator: match by term: Spermatogenic Failure ClinVar NCBI chr 1:66,843,653...66,864,348
Ensembl chr 1:66,843,653...66,864,386 		JBrowse link
G Chpt1 choline phosphotransferase 1 ISO ClinVar Annotator: match by term: Spermatogenic Failure ClinVar NCBI chr 7:22,866,455...22,915,111
Ensembl chr 7:22,863,027...22,915,103 		JBrowse link
G Nlrp14 NLR family, pyrin domain containing 14 ISO ClinVar Annotator: match by term: Spermatogenic Failure ClinVar PMID:16931801 PMID:20981092 PMID:22344438 PMID:24033266 PMID:25741868 NCBI chr 1:161,069,141...161,089,158
Ensembl chr 1:161,061,165...161,089,222 		JBrowse link
G Sohlh1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 ISO ClinVar Annotator: match by term: Spermatogenic Failure ClinVar PMID:20506135 PMID:28492532 PMID:28718531 NCBI chr 3:8,662,995...8,667,521
Ensembl chr 3:8,663,318...8,667,388 		JBrowse link
G Spata16 spermatogenesis associated 16 ISO ClinVar Annotator: match by term: Spermatogenic Failure ClinVar NCBI chr 2:109,485,287...109,865,665
Ensembl chr 2:109,485,274...109,865,659 		JBrowse link
G Sycp3 synaptonemal complex protein 3 ISO ClinVar Annotator: match by term: Spermatogenic Failure ClinVar NCBI chr 7:22,874,055...22,888,512
Ensembl chr 7:22,874,055...22,888,511 		JBrowse link
spermatogenic failure 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ank2 ankyrin 2 ISO ClinVar Annotator: match by term: Oligosynaptic infertility ClinVar PMID:228900 PMID:258150 NCBI chr 2:215,378,028...215,954,015
Ensembl chr 2:215,379,680...215,862,923 		JBrowse link
G Dnah1 dynein, axonemal, heavy chain 1 ISO ClinVar Annotator: match by term: Oligosynaptic infertility ClinVar PMID:25741868 PMID:28492532 NCBI chr16:6,455,514...6,517,103
Ensembl chr16:6,456,002...6,518,350 		JBrowse link
G Nr5a1 nuclear receptor subfamily 5, group A, member 1 ISO ClinVar Annotator: match by term: Oligosynaptic infertility ClinVar PMID:9536098 PMID:10369247 PMID:11038323 PMID:12907682 PMID:17576681 More... NCBI chr 3:22,464,786...22,486,328
Ensembl chr 3:22,465,502...22,486,328 		JBrowse link
G Pdha2 pyruvate dehydrogenase E1 subunit alpha 2 ISO ClinVar Annotator: match by term: Oligosynaptic infertility ClinVar NCBI chr 2:229,872,300...229,873,848 JBrowse link
G Sycp2 synaptonemal complex protein 2 ISO ClinVar Annotator: match by term: Oligosynaptic infertility OMIM
ClinVar		 PMID:25741868 PMID:31866047 NCBI chr 3:165,431,715...165,502,134
Ensembl chr 3:165,436,331...165,498,789 		JBrowse link
G Tex15 testis expressed 15, meiosis and synapsis associated ISO ClinVar Annotator: match by term: Oligosynaptic infertility ClinVar PMID:26199321 NCBI chr16:58,598,991...58,659,005
Ensembl chr16:58,598,989...58,658,467 		JBrowse link
spermatogenic failure 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Septin12 septin 12 ISO ClinVar Annotator: match by OMIM:614822 OMIM
ClinVar		 PMID:22275165 PMID:22479503 NCBI chr10:10,580,900...10,590,582
Ensembl chr10:10,581,008...10,590,581 		JBrowse link
spermatogenic failure 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Klhl10 kelch-like family member 10 ISO ClinVar Annotator: match by term: Spermatogenic failure 11
ClinVar Annotator: match by OMIM:615081		 OMIM
ClinVar		 PMID:17047026 PMID:25741868 PMID:28492532 NCBI chr10:85,376,442...85,392,720
Ensembl chr10:85,376,442...85,392,720 		JBrowse link
spermatogenic failure 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nanos1 nanos C2HC-type zinc finger 1 ISO OMIM NCBI chr 1:259,897,659...259,901,501
Ensembl chr 1:259,897,939...259,898,730 		JBrowse link
spermatogenic failure 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Taf4b TATA-box binding protein associated factor 4b ISO ClinVar Annotator: match by OMIM:615841 OMIM
ClinVar		 PMID:24431330 NCBI chr18:5,952,737...6,086,408
Ensembl chr18:5,952,769...6,068,307 		JBrowse link
spermatogenic failure 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zmynd15 zinc finger, MYND-type containing 15 ISO ClinVar Annotator: match by term: Spermatogenic failure 14 OMIM
ClinVar		 PMID:33169450 NCBI chr10:55,171,198...55,177,812
Ensembl chr10:55,171,198...55,177,812 		JBrowse link
spermatogenic failure 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Syce1 synaptonemal complex central element protein 1 ISO ClinVar Annotator: match by term: Spermatogenic failure 15 ClinVar
OMIM		 PMID:25899990 NCBI chr 1:195,852,171...195,863,174
Ensembl chr 1:195,852,172...195,863,174 		JBrowse link
spermatogenic failure 16 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sun5 Sad1 and UNC84 domain containing 5 ISO ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 16
ClinVar Annotator: match by term: Spermatogenic failure 16		 ClinVar
OMIM		 PMID:27640305 PMID:28492532 PMID:29331481 NCBI chr 3:142,334,902...142,355,330
Ensembl chr 3:142,334,928...142,355,330 		JBrowse link
spermatogenic failure 17 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pik3c2g phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma ISO ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 17
ClinVar Annotator: match by term: Spermatogenic failure 17		 ClinVar PMID:25741868 PMID:26721930 PMID:31463947 NCBI chr 4:172,483,752...172,851,623
Ensembl chr 4:172,484,345...172,850,544 		JBrowse link
G Plcz1 phospholipase C, zeta 1 ISO ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 17
ClinVar Annotator: match by term: Spermatogenic failure 17		 ClinVar
OMIM		 PMID:25741868 PMID:26721930 PMID:31463947 NCBI chr 4:172,873,110...172,929,191
Ensembl chr 4:172,873,112...172,928,358 		JBrowse link
spermatogenic failure 18 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cfap251 cilia and flagella associated protein 251 ISO ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 18 ClinVar PMID:30122540 NCBI chr12:33,261,622...33,337,028
Ensembl chr12:33,261,476...33,293,932 		JBrowse link
G Dnah1 dynein, axonemal, heavy chain 1 ISO ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 18
ClinVar Annotator: match by term: Spermatogenic failure 18		 ClinVar
OMIM		 PMID:9536098 PMID:11371505 PMID:16199547 PMID:17576681 PMID:24033266 More... NCBI chr16:6,455,514...6,517,103
Ensembl chr16:6,456,002...6,518,350 		JBrowse link
spermatogenic failure 19 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cfap43 cilia and flagella associated protein 43 ISO ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 19
ClinVar Annotator: match by term: Spermatogenic failure 19		 ClinVar
OMIM		 PMID:25741868 PMID:28552195 PMID:29277146 PMID:29449551 NCBI chr 1:246,625,259...246,712,438
Ensembl chr 1:246,625,262...246,712,443 		JBrowse link
spermatogenic failure 20 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cfap44 cilia and flagella associated protein 44 ISO ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 20
ClinVar Annotator: match by term: Spermatogenic failure 20		 ClinVar
OMIM		 PMID:25741868 PMID:28552195 PMID:29277146 PMID:29449551 NCBI chr11:56,199,050...56,284,053
Ensembl chr11:56,201,049...56,283,986 		JBrowse link
spermatogenic failure 21 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Brdt bromodomain testis associated ISO ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 21 ClinVar
OMIM		 PMID:28199965 NCBI chr14:2,421,094...2,445,842
Ensembl chr14:2,387,796...2,445,842 		JBrowse link
spermatogenic failure 22 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Meiob meiosis specific with OB-fold ISO ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 22 ClinVar
OMIM		 PMID:28206990 NCBI chr10:13,833,170...13,865,684
Ensembl chr10:13,833,750...13,865,046 		JBrowse link
spermatogenic failure 23 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tex14 testis expressed 14, intercellular bridge forming factor ISO ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 23 ClinVar
OMIM		 PMID:28206990 PMID:29790874 NCBI chr10:72,231,766...72,356,938
Ensembl chr10:72,231,801...72,355,805 		JBrowse link
spermatogenic failure 24 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cfap69 cilia and flagella associated protein 69 ISO ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 24
ClinVar Annotator: match by term: Spermatogenic failure 24		 ClinVar
OMIM		 PMID:25741868 PMID:29606301 PMID:30415212 NCBI chr 4:28,379,604...28,452,562
Ensembl chr 4:28,375,996...28,450,698 		JBrowse link
spermatogenic failure 25 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tex15 testis expressed 15, meiosis and synapsis associated ISO ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 25
ClinVar Annotator: match by term: Spermatogenic failure 25		 ClinVar
OMIM		 PMID:25741868 PMID:26199321 PMID:28355598 NCBI chr16:58,598,991...58,659,005
Ensembl chr16:58,598,989...58,658,467 		JBrowse link
spermatogenic failure 26 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tsga10 testis specific 10 ISO ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 26 ClinVar
OMIM		 PMID:28905369 NCBI chr 9:39,991,822...40,098,239
Ensembl chr 9:39,991,830...40,098,232 		JBrowse link
spermatogenic failure 27 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ak7 adenylate kinase 7 ISO ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 27 ClinVar
OMIM		 PMID:25741868 PMID:29365104 NCBI chr 6:124,611,789...124,679,978
Ensembl chr 6:124,611,902...124,679,961 		JBrowse link
spermatogenic failure 28 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fancm FA complementation group M ISO ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 28
ClinVar Annotator: match by term: Spermatogenic failure 28		 ClinVar
OMIM		 PMID:9536098 PMID:17289582 PMID:17576681 PMID:18174376 PMID:18414213 More... NCBI chr 6:83,126,903...83,180,455
Ensembl chr 6:83,127,093...83,180,028 		JBrowse link
spermatogenic failure 29 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Spink2 serine peptidase inhibitor, Kazal type 2 ISO ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 29
ClinVar Annotator: match by term: Spermatogenic failure 29		 ClinVar
OMIM		 PMID:25741868 PMID:28554943 NCBI chr14:30,967,682...30,974,326
Ensembl chr14:30,967,714...30,974,326 		JBrowse link
spermatogenic failure 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dmrt1 doublesex and mab-3 related transcription factor 1 ISO ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar PMID:24934491 PMID:25741868 PMID:28492532 PMID:31479588 NCBI chr 1:223,142,859...223,241,333
Ensembl chr 1:223,142,859...223,241,333 		JBrowse link
G Dnmt3b DNA methyltransferase 3 beta ISO ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar PMID:10647011 PMID:11102980 PMID:11919202 PMID:15580563 PMID:25741868 More... NCBI chr 3:142,130,592...142,169,124
Ensembl chr 3:142,130,592...142,169,124 		JBrowse link
G Foxp3 forkhead box P3 ISO ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar PMID:24258212 PMID:28492532 NCBI chr  X:14,908,494...14,924,994
Ensembl chr  X:14,908,494...14,923,838 		JBrowse link
G Klhl10 kelch-like family member 10 ISO ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar PMID:25741868 PMID:28492532 PMID:31479588 NCBI chr10:85,376,442...85,392,720
Ensembl chr10:85,376,442...85,392,720 		JBrowse link
G M1ap meiosis 1 associated protein ISO ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar PMID:25741868 PMID:32673564 NCBI chr 4:115,445,910...115,536,745
Ensembl chr 4:115,455,397...115,536,487 		JBrowse link
G Mon1b MON1 homolog B, secretory trafficking associated ISO ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar PMID:25741868 PMID:28492532 PMID:31479588 NCBI chr19:41,617,201...41,625,347
Ensembl chr19:41,617,364...41,625,347 		JBrowse link
G Msh4 mutS homolog 4 ISO ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar PMID:25741868 PMID:33448284 NCBI chr 2:242,785,392...242,844,609
Ensembl chr 2:242,792,661...242,843,487 		JBrowse link
G Msh5 mutS homolog 5 ISO ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar PMID:25741868 NCBI chr20:3,773,867...3,793,337
Ensembl chr20:3,776,942...3,793,336 		JBrowse link
G Npas2 neuronal PAS domain protein 2 ISO ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar PMID:25956372 NCBI chr 9:41,463,361...41,642,322
Ensembl chr 9:41,463,830...41,642,320 		JBrowse link
G Rec8 REC8 meiotic recombination protein ISO ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar PMID:25741868 PMID:31479588 NCBI chr15:29,109,862...29,117,327
Ensembl chr15:29,109,863...29,117,326 		JBrowse link
G Six6os1 Six6 opposite strand transcript 1 ISO ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar PMID:33508233 NCBI chr 6:91,579,185...91,615,183
Ensembl chr 6:91,579,325...91,615,148 		JBrowse link
G Slc26a8 solute carrier family 26 member 8 ISO ClinVar Annotator: match by OMIM:606766 OMIM
ClinVar		 PMID:23582645 NCBI chr20:6,686,206...6,749,478
Ensembl chr20:6,697,723...6,749,478 		JBrowse link
G Srsf6 serine and arginine rich splicing factor 6 susceptibility ISO DNA:snp:intron:g.IVS2+305T>C (rs6103330) (human) RGD PMID:24661730 RGD:11039404 NCBI chr 3:151,589,546...151,594,869
Ensembl chr 3:151,589,535...151,594,860 		JBrowse link
G Stag3 stromal antigen 3 ISO ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar PMID:25741868 NCBI chr12:17,284,677...17,314,936
Ensembl chr12:17,284,794...17,314,935 		JBrowse link
G Syce1l synaptonemal complex central element protein 1-like ISO ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar PMID:25741868 PMID:28492532 PMID:31479588 NCBI chr19:41,625,074...41,635,541
Ensembl chr19:41,617,180...41,635,526 		JBrowse link
G Tex11 testis expressed 11 ISO ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar PMID:25970010 PMID:28132688 NCBI chr  X:65,932,904...66,196,525
Ensembl chr  X:65,932,988...66,196,187 		JBrowse link
G Tex14 testis expressed 14, intercellular bridge forming factor ISO ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar PMID:25741868 PMID:28492532 PMID:31479588 NCBI chr10:72,231,766...72,356,938
Ensembl chr10:72,231,801...72,355,805 		JBrowse link
G Tex15 testis expressed 15, meiosis and synapsis associated ISO ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar PMID:25741868 PMID:28492532 PMID:31479588 NCBI chr16:58,598,991...58,659,005
Ensembl chr16:58,598,989...58,658,467 		JBrowse link
G Trim71 tripartite motif containing 71 ISO ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar PMID:25741868 NCBI chr 8:114,193,439...114,250,807
Ensembl chr 8:114,199,187...114,250,807 		JBrowse link
G Zswim7 zinc finger, SWIM-type containing 7 ISO ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar NCBI chr10:46,953,311...46,969,800
Ensembl chr10:46,957,525...46,969,671 		JBrowse link
spermatogenic failure 30 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tdrd9 tudor domain containing 9 ISO ClinVar Annotator: match by term: Spermatogenic failure 30 OMIM
ClinVar		 PMID:25741868 NCBI chr 6:131,029,644...131,145,076
Ensembl chr 6:131,029,652...131,144,651 		JBrowse link
spermatogenic failure 31 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyba cytochrome b-245 alpha chain ISO ClinVar Annotator: match by term: CYBA DEFICIENCY ClinVar PMID:3368442 PMID:9445163 PMID:10440830 PMID:19388116 PMID:25741868 More... NCBI chr19:50,487,598...50,495,669
Ensembl chr19:50,487,597...50,495,721 		JBrowse link
G Pmfbp1 polyamine modulated factor 1 binding protein 1 ISO ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 31 ClinVar
OMIM		 PMID:30032984 PMID:30298696 NCBI chr19:37,443,432...37,507,880
Ensembl chr19:37,458,108...37,507,879 		JBrowse link
spermatogenic failure 32 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sohlh1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 ISO ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 32 OMIM
ClinVar		 PMID:20506135 PMID:28492532 PMID:28718531 NCBI chr 3:8,662,995...8,667,521
Ensembl chr 3:8,663,318...8,667,388 		JBrowse link
spermatogenic failure 33 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cfap251 cilia and flagella associated protein 251 ISO ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 33 ClinVar
OMIM		 PMID:30122540 PMID:30122541 NCBI chr12:33,261,622...33,337,028
Ensembl chr12:33,261,476...33,293,932 		JBrowse link
G Dnah1 dynein, axonemal, heavy chain 1 ISO ClinVar Annotator: match by term: Non-syndromic male infertility due to sperm motility disorder ClinVar PMID:24033266 NCBI chr16:6,455,514...6,517,103
Ensembl chr16:6,456,002...6,518,350 		JBrowse link
spermatogenic failure 34 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fsip2 fibrous sheath-interacting protein 2 ISO ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 34 ClinVar
OMIM		 PMID:30137358 NCBI chr 3:67,962,345...68,032,866
Ensembl chr 3:67,962,360...68,032,868 		JBrowse link
spermatogenic failure 35 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Qrich2 glutamine rich 2 ISO ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 35 OMIM
ClinVar		 PMID:31110204 PMID:31292949 NCBI chr10:101,669,235...101,685,281
Ensembl chr10:101,669,224...101,697,656 		JBrowse link
spermatogenic failure 36 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ppp2r3c protein phosphatase 2, regulatory subunit B'', gamma ISO ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 36 OMIM
ClinVar		 PMID:30893644 NCBI chr 6:72,647,025...72,670,885
Ensembl chr 6:72,647,025...72,672,491 		JBrowse link
spermatogenic failure 37 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ttc21a tetratricopeptide repeat domain 21A ISO ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 37 OMIM
ClinVar		 PMID:30929735 NCBI chr 8:119,667,044...119,702,028
Ensembl chr 8:119,666,933...119,702,456 		JBrowse link
spermatogenic failure 38 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Armc2 armadillo repeat containing 2 ISO ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 38 ClinVar
OMIM		 PMID:30686508 NCBI chr20:45,395,859...45,501,808
Ensembl chr20:45,394,127...45,504,819 		JBrowse link
G Cfap206 cilia and flagella associated protein 206 ISO ClinVar Annotator: match by term: Sperm tail anomaly ClinVar PMID:24360805 NCBI chr 5:49,254,399...49,299,145
Ensembl chr 5:49,254,408...49,299,090 		JBrowse link
G Cfap91 cilia and flagella associated protein 91 ISO ClinVar Annotator: match by term: Male infertility with teratozoospermia due to single gene mutation ClinVar PMID:32161152 NCBI chr11:62,413,613...62,457,281
Ensembl chr11:62,413,602...62,457,293 		JBrowse link
spermatogenic failure 39 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnah17 dynein, axonemal, heavy chain 17 ISO ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 39 OMIM
ClinVar		 PMID:25741868 PMID:31178125 NCBI chr10:103,244,144...103,364,953
Ensembl chr10:103,249,363...103,364,901 		JBrowse link
spermatogenic failure 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chpt1 choline phosphotransferase 1 ISO ClinVar Annotator: match by term: Spermatogenesis arrest
ClinVar Annotator: match by term: Spermatogenic failure 4		 ClinVar PMID:19110213 PMID:28492532 PMID:28801929 PMID:29713536 NCBI chr 7:22,866,455...22,915,111
Ensembl chr 7:22,863,027...22,915,103 		JBrowse link
G M1ap meiosis 1 associated protein ISO ClinVar Annotator: match by term: Spermatogenesis maturation arrest ClinVar PMID:32017041 NCBI chr 4:115,445,910...115,536,745
Ensembl chr 4:115,455,397...115,536,487 		JBrowse link
G Rpl10l ribosomal protein L10-like ISO ClinVar Annotator: match by term: Spermatogenesis maturation arrest ClinVar PMID:32111475 NCBI chr 6:84,544,771...84,545,863 JBrowse link
G Sycp2 synaptonemal complex protein 2 ISO ClinVar Annotator: match by term: Early spermatogenesis maturation arrest ClinVar PMID:25741868 PMID:31866047 NCBI chr 3:165,431,715...165,502,134
Ensembl chr 3:165,436,331...165,498,789 		JBrowse link
G Sycp3 synaptonemal complex protein 3 ISO ClinVar Annotator: match by term: Spermatogenic failure 4
ClinVar Annotator: match by term: Spermatogenesis arrest
ClinVar Annotator: match by OMIM:270960		 OMIM
ClinVar		 PMID:14643120 PMID:19110213 PMID:28492532 PMID:28801929 PMID:29713536 NCBI chr 7:22,874,055...22,888,512
Ensembl chr 7:22,874,055...22,888,511 		JBrowse link
spermatogenic failure 40 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cfap65 cilia and flagella associated protein 65 ISO ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 40
ClinVar Annotator: match by term: Spermatogenic failure 40		 ClinVar
OMIM		 PMID:25741868 PMID:28552195 PMID:31413122 PMID:31501240 PMID:31571197 NCBI chr 9:76,459,211...76,494,199
Ensembl chr 9:76,459,211...76,494,128 		JBrowse link
spermatogenic failure 41 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cfap70 cilia and flagella associated protein 70 ISO ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 41 ClinVar
OMIM		 PMID:31621862 NCBI chr15:3,852,381...3,918,036
Ensembl chr15:3,852,509...3,918,014 		JBrowse link
spermatogenic failure 42 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ttc29 tetratricopeptide repeat domain 29 ISO ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 42 ClinVar
OMIM		 PMID:31735292 PMID:31735294 NCBI chr19:29,531,707...29,750,635
Ensembl chr19:29,532,663...29,750,615 		JBrowse link
spermatogenic failure 43 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Spef2 sperm flagellar 2 ISO ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 43 ClinVar
OMIM		 PMID:31048344 PMID:31151990 PMID:31278745 NCBI chr 2:58,512,489...58,694,718
Ensembl chr 2:58,512,489...58,694,664 		JBrowse link
spermatogenic failure 44 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cep112 centrosomal protein 112 ISO ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 44 OMIM
ClinVar		 PMID:31654588 NCBI chr10:93,366,059...93,833,133
Ensembl chr10:93,366,136...93,833,131 		JBrowse link
spermatogenic failure 45 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnah2 dynein, axonemal, heavy chain 2 ISO ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 45 OMIM
ClinVar		 PMID:30811583 NCBI chr10:54,142,648...54,268,901
Ensembl chr10:54,142,737...54,267,298 		JBrowse link
spermatogenic failure 46 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnah8 dynein, axonemal, heavy chain 8 ISO ClinVar Annotator: match by term: Spermatogenic failure 46
ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 46		 OMIM
ClinVar		 PMID:24033266 PMID:25741868 PMID:28492532 PMID:32619401 PMID:32681648 NCBI chr20:8,692,939...8,946,780
Ensembl chr20:8,692,963...8,946,772 		JBrowse link
spermatogenic failure 47 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dzip1 DAZ interacting zinc finger protein 1 ISO ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 47 OMIM
ClinVar		 PMID:32051257 NCBI chr15:95,956,329...96,009,994
Ensembl chr15:95,956,398...96,010,066 		JBrowse link
spermatogenic failure 48 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G M1ap meiosis 1 associated protein ISO ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 48 ClinVar
OMIM		 PMID:25741868 PMID:32017041 PMID:32673564 NCBI chr 4:115,445,910...115,536,745
Ensembl chr 4:115,455,397...115,536,487 		JBrowse link
spermatogenic failure 49 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cfap58 cilia and flagella associated protein 58 ISO ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 49 OMIM
ClinVar		 PMID:32791035 NCBI chr 1:246,802,681...246,911,363
Ensembl chr 1:246,802,665...246,911,374 		JBrowse link
spermatogenic failure 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aurkc aurora kinase C ISO ClinVar Annotator: match by OMIM:243060
ClinVar Annotator: match by term: Male infertility with spermatogenesis disorder
ClinVar Annotator: match by term: Infertility associated with multi-tailed spermatozoa and excessive DNA		 ClinVar
OMIM		 PMID:17435757 PMID:19147683 PMID:21733974 PMID:22888167 PMID:24033266 More... NCBI chr 1:66,843,653...66,864,348
Ensembl chr 1:66,843,653...66,864,386 		JBrowse link
spermatogenic failure 50 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Xrcc2 X-ray repair cross complementing 2 ISO ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 50 OMIM
ClinVar		 PMID:30042186 PMID:30489636 NCBI chr 4:9,423,873...9,502,980
Ensembl chr 4:9,423,898...9,442,482 		JBrowse link
spermatogenic failure 51 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cfap91 cilia and flagella associated protein 91 ISO ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 51 OMIM
ClinVar		 PMID:32161152 NCBI chr11:62,413,613...62,457,281
Ensembl chr11:62,413,602...62,457,293 		JBrowse link
spermatogenic failure 52 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Six6os1 Six6 opposite strand transcript 1 ISO ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 52 OMIM
ClinVar		 PMID:33508233 NCBI chr 6:91,579,185...91,615,183
Ensembl chr 6:91,579,325...91,615,148 		JBrowse link
spermatogenic failure 53 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actl9 actin-like 9 ISO ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 53 OMIM
ClinVar		 PMID:33626338 NCBI chr 7:14,234,504...14,235,881
Ensembl chr 7:14,234,504...14,235,881 		JBrowse link
Spermatogenic Failure 54 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Catip ciliogenesis associated TTC17 interacting protein ISO ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 54 OMIM
ClinVar		 PMID:32503832 NCBI chr 9:75,945,933...75,953,618
Ensembl chr 9:75,945,961...75,953,607 		JBrowse link
Spermatogenic Failure 55 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Spag17 sperm associated antigen 17 ISO ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 55 ClinVar
OMIM		 PMID:28548327 NCBI chr 2:187,264,004...187,511,061
Ensembl chr 2:187,264,009...187,510,501 		JBrowse link
Spermatogenic Failure 56 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnah10 dynein, axonemal, heavy chain 10 ISO OMIM NCBI chr12:31,823,451...31,946,857 JBrowse link
Spermatogenic Failure 57 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pnldc1 PARN like ribonuclease domain containing exonuclease 1 ISO OMIM NCBI chr 1:47,843,224...47,861,675
Ensembl chr 1:47,843,224...47,861,674 		JBrowse link
spermatogenic failure 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Spata16 spermatogenesis associated 16 ISO OMIM NCBI chr 2:109,485,287...109,865,665
Ensembl chr 2:109,485,274...109,865,659 		JBrowse link
spermatogenic failure 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Catsper1 cation channel, sperm associated 1 ISO ClinVar Annotator: match by term: Spermatogenic failure 7 OMIM
ClinVar		 PMID:19344877 PMID:20301780 PMID:21255775 PMID:24442342 PMID:25741868 More... NCBI chr 1:202,643,009...202,652,059
Ensembl chr 1:202,643,038...202,651,824 		JBrowse link
G Catsper2 cation channel, sperm associated 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:108,368,654...108,389,380
Ensembl chr 3:108,368,668...108,388,050 		JBrowse link
G Strc stereocilin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 7		 CTD
ClinVar		 PMID:24033266 PMID:25741868 NCBI chr 3:108,335,920...108,355,114
Ensembl chr 3:108,335,747...108,354,134 		JBrowse link
spermatogenic failure 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nr5a1 nuclear receptor subfamily 5, group A, member 1 ISO ClinVar Annotator: match by OMIM:613957 OMIM
ClinVar		 PMID:20887963 NCBI chr 3:22,464,786...22,486,328
Ensembl chr 3:22,465,502...22,486,328 		JBrowse link
spermatogenic failure 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dpy19l2 dpy-19 like 2 ISO ClinVar Annotator: match by term: Spermatogenic failure 9
ClinVar Annotator: match by OMIM:613958		 OMIM
ClinVar		 PMID:15533374 PMID:21397063 PMID:21397064 PMID:22627659 PMID:22653751 More... NCBI chr 8:23,062,592...23,181,817
Ensembl chr 8:23,063,115...23,181,798 		JBrowse link
Teratozoospermia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nectin2 nectin cell adhesion molecule 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28689229 NCBI chr 1:79,372,123...79,407,379
Ensembl chr 1:79,372,119...79,407,360 		JBrowse link
G Nectin3 nectin cell adhesion molecule 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28689229 NCBI chr11:54,362,712...54,461,316
Ensembl chr11:54,364,487...54,462,519 		JBrowse link
G Nos3 nitric oxide synthase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29983398 NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166 		JBrowse link
Visceral Heterotaxy 9, Autosomal term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mns1 meiosis-specific nuclear structural 1 ISO ClinVar Annotator: match by term: HETEROTAXY, VISCERAL, 9, AUTOSOMAL, WITH MALE INFERTILITY ClinVar
OMIM		 PMID:30148830 NCBI chr 8:73,148,877...73,169,570
Ensembl chr 8:73,148,877...73,176,925 		JBrowse link
G Tex9 testis expressed 9 ISO ClinVar Annotator: match by term: HETEROTAXY, VISCERAL, 9, AUTOSOMAL, WITH MALE INFERTILITY ClinVar PMID:30148830 NCBI chr 8:73,168,519...73,213,935
Ensembl chr 8:73,177,810...73,214,261 		JBrowse link
X-linked congenital bilateral absence of vas deferens term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adgrg2 adhesion G protein-coupled receptor G2 ISO ClinVar Annotator: match by term: Vas deferens, congenital bilateral aplasia of, X-linked ClinVar
OMIM		 PMID:25741868 PMID:27476656 NCBI chr  X:34,297,402...34,422,590
Ensembl chr  X:34,297,402...34,422,609 		JBrowse link
X-linked spermatogenic failure 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tex11 testis expressed 11 ISO ClinVar Annotator: match by term: Spermatogenic failure, X-linked, 2 OMIM
ClinVar		 PMID:25970010 PMID:28492532 NCBI chr  X:65,932,904...66,196,525
Ensembl chr  X:65,932,988...66,196,187 		JBrowse link
X-linked spermatogenic failure 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cfap47 cilia and flagella associated protein 47 ISO ClinVar Annotator: match by term: SPERMATOGENIC FAILURE, X-LINKED, 3 ClinVar
OMIM		 PMID:33472045 NCBI chr  X:43,264,687...43,616,607
Ensembl chr  X:43,263,490...43,616,852 		JBrowse link
Y-linked spermatogenic failure 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ddx3 DEAD (Asp-Glu-Ala-Asp) box polypeptide 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr  Y:1,115,095...1,135,754
Ensembl chr  Y:1,116,309...1,135,706 		JBrowse link
G Kdm5d lysine demethylase 5D ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr  Y:527,069...624,019
Ensembl chr  Y:530,401...624,018 		JBrowse link
G Rps4y2 ribosomal protein S4, Y-linked 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:181,269,507...181,270,440
Ensembl chr 4:181,269,081...181,270,349 		JBrowse link
G Usp9y ubiquitin specific peptidase 9, Y-linked ISO ClinVar Annotator: match by OMIM:415000
ClinVar Annotator: match by term: Hypospermatogenesis, nonobstructive, Y-linked		 ClinVar
OMIM		 PMID:9384609 PMID:10402373 PMID:10507722 PMID:10581029 PMID:10767340 More... NCBI chr  Y:1,156,135...1,300,965
Ensembl chr  Y:1,156,135...1,300,943 		JBrowse link
Young Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pgk1 phosphoglycerate kinase 1 ISO ClinVar Annotator: match by term: Male infertility due to obstructive azoospermia ClinVar NCBI chr  X:71,271,454...71,287,429
Ensembl chr  X:71,271,440...71,287,418 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17240
    disease of anatomical entity 16581
      reproductive system disease 2738
        male reproductive system disease 1861
          male infertility 202
            Aspermia 0
            Asthenozoospermia + 9
            Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities 0
            Male Sterility due to Y-Chromosome Deletions 0
            Sensorineural Deafness and Male Infertility 3
            Sertoli cell-only syndrome + 3
            Teratozoospermia + 7
            Visceral Heterotaxy 9, Autosomal 2
            aromatase excess syndrome 1
            azoospermia + 46
            infertility due to extratesticular cause 0
            oligospermia + 23
            spermatogenic failure + 82
Path 2
Term Annotations click to browse term
  disease 17240
    disease of anatomical entity 16581
      Urogenital Diseases 4360
        Female Urogenital Diseases and Pregnancy Complications 2047
          Female Urogenital Diseases 1742
            female reproductive system disease 1738
              infertility 284
                male infertility 202
                  Aspermia 0
                  Asthenozoospermia + 9
                  Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities 0
                  Male Sterility due to Y-Chromosome Deletions 0
                  Sensorineural Deafness and Male Infertility 3
                  Sertoli cell-only syndrome + 3
                  Teratozoospermia + 7
                  Visceral Heterotaxy 9, Autosomal 2
                  aromatase excess syndrome 1
                  azoospermia + 46
                  infertility due to extratesticular cause 0
                  oligospermia + 23
                  spermatogenic failure + 82
paths to the root