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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:infertility
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Accession:DOID:5223 term browser browse the term
Definition:A reduced or absent capacity to reproduce.
Synonyms:exact_synonym: male and female infertility;   reproductive sterility;   sterility;   sub-fertility;   subfertility
 primary_id: MESH:D007246
 xref: EFO:0000545;   MIM:PS616814;   NCI:C3836
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
infertility term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAM7 ADAM metallopeptidase domain 7 ISO RGD PMID:26246218 RGD:13831360 NCBI chr 8:24,441,026...24,509,565
Ensembl chr 8:24,440,930...24,526,970 		JBrowse link
G ATM ATM serine/threonine kinase ISO DNA:missense mutation:cds:
DNA:deletion:exon:		 RGD PMID:27895165 PMID:28007901 RGD:12879393, RGD:12879399 NCBI chr11:108,223,067...108,369,102
Ensembl chr11:108,222,804...108,369,102 		JBrowse link
G BRCA2 BRCA2 DNA repair associated ISO RGD PMID:12754522 RGD:727990 NCBI chr13:32,315,077...32,400,268
Ensembl chr13:32,315,086...32,400,268 		JBrowse link
G CATSPER2 cation channel sperm associated 2 IAGP ClinVar Annotator: match by term: Infertility ClinVar NCBI chr15:43,628,503...43,648,884
Ensembl chr15:43,628,503...43,668,118 		JBrowse link
G CCDC103 coiled-coil domain containing 103 IAGP ClinVar Annotator: match by term: Infertility ClinVar PMID:22581229 PMID:23891469 PMID:24033266 PMID:24357714 PMID:25326635 More... NCBI chr17:44,899,729...44,905,390
Ensembl chr17:44,899,142...44,905,390 		JBrowse link
G CCDC39 coiled-coil domain 39 molecular ruler complex subunit IAGP ClinVar Annotator: match by term: Infertility ClinVar PMID:16199547 PMID:21131972 PMID:22693295 PMID:23255504 PMID:25741868 More... NCBI chr 3:180,614,008...180,679,489
Ensembl chr 3:180,602,858...180,684,942 		JBrowse link
G CDC23 cell division cycle 23 ISS MouseDO NCBI chr 5:138,187,650...138,213,323
Ensembl chr 5:138,187,650...138,213,343 		JBrowse link
G CDKN1B cyclin dependent kinase inhibitor 1B ISO RGD PMID:30893315 RGD:126908018 NCBI chr12:12,717,368...12,722,369
Ensembl chr12:12,685,498...12,722,369 		JBrowse link
G CFTR CF transmembrane conductance regulator IAGP ClinVar Annotator: match by term: Infertility ClinVar PMID:1284535 PMID:1379210 PMID:1384326 PMID:1977306 PMID:7508183 More... NCBI chr 7:117,480,025...117,668,665
Ensembl chr 7:117,287,120...117,715,971 		JBrowse link
G CFTR-AS1 CFTR antisense RNA 1 IAGP ClinVar Annotator: match by term: Infertility ClinVar PMID:1284535 PMID:1384326 PMID:1977306 PMID:7508183 PMID:7682884 More... NCBI chr 7:117,542,521...117,564,676
Ensembl chr 7:117,560,733...117,564,676 		JBrowse link
G CSF1R colony stimulating factor 1 receptor ISO RGD PMID:30249809 RGD:41404725 NCBI chr 5:150,053,295...150,113,365
Ensembl chr 5:150,053,291...150,113,372 		JBrowse link
G DICER1 dicer 1, ribonuclease III ISO RGD PMID:25525274 RGD:150340620 NCBI chr14:95,086,228...95,158,010
Ensembl chr14:95,086,228...95,158,010 		JBrowse link
G DNAAF11 dynein axonemal assembly factor 11 IAGP ClinVar Annotator: match by term: Infertility ClinVar PMID:28492532 PMID:30300419 NCBI chr 8:132,570,416...132,702,913
Ensembl chr 8:132,570,416...132,675,592 		JBrowse link
G DNAH11 dynein axonemal heavy chain 11 IAGP ClinVar Annotator: match by term: Infertility ClinVar PMID:28492532 NCBI chr 7:21,543,039...21,901,839
Ensembl chr 7:21,543,039...21,901,839 		JBrowse link
G DNAH5 dynein axonemal heavy chain 5 IAGP ClinVar Annotator: match by term: Infertility ClinVar PMID:11788826 PMID:16627867 PMID:25741868 PMID:27637300 PMID:28492532 More... NCBI chr 5:13,690,328...14,011,818
Ensembl chr 5:13,690,328...14,011,818 		JBrowse link
G DNAI1 dynein axonemal intermediate chain 1 IAGP ClinVar Annotator: match by term: Infertility ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:34,458,805...34,520,984
Ensembl chr 9:34,457,414...34,520,988 		JBrowse link
G EHMT2 euchromatic histone lysine methyltransferase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25975992 NCBI chr 6:31,879,759...31,897,698
Ensembl chr 6:31,879,759...31,897,698 		JBrowse link
G ESR1 estrogen receptor 1 ISO RGD PMID:24506075 RGD:8552987 NCBI chr 6:151,656,672...152,129,619
Ensembl chr 6:151,656,691...152,129,619 		JBrowse link
G FANCA FA complementation group A ISO associated with Hypogonadism RGD PMID:10915769 RGD:11344895 NCBI chr16:89,737,549...89,816,647
Ensembl chr16:89,726,683...89,816,977 		JBrowse link
G FGFR1 fibroblast growth factor receptor 1 IAGP ClinVar Annotator: match by term: Infertility ClinVar PMID:25741868 NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834 		JBrowse link
G GNRHR gonadotropin releasing hormone receptor IAGP ClinVar Annotator: match by term: Infertility ClinVar PMID:7557974 PMID:9371856 PMID:10022417 PMID:10690855 PMID:10999776 More... NCBI chr 4:67,737,118...67,754,388
Ensembl chr 4:67,737,118...67,754,388 		JBrowse link
G KL klotho EXP CTD Direct Evidence: marker/mechanism CTD PMID:9363890 NCBI chr13:33,016,243...33,066,143
Ensembl chr13:33,016,423...33,066,143 		JBrowse link
G LEPR leptin receptor treatment ISO
EXP		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:15093691 PMID:16284652 RGD:10412018 NCBI chr 1:65,420,652...65,641,559
Ensembl chr 1:65,420,652...65,641,559 		JBrowse link
G LOC111674472 DNase I hypersensitive sites in introns 16 and 17a of CFTR IAGP ClinVar Annotator: match by term: Infertility ClinVar PMID:1379210 PMID:8605891 PMID:9921909 PMID:10801389 PMID:10869121 More... NCBI chr 7:117,607,047...117,612,650 JBrowse link
G NPHP4 nephrocystin 4 IAGP ClinVar Annotator: match by term: Infertility ClinVar PMID:11920287 PMID:12205563 PMID:12244321 PMID:23559409 PMID:23574405 More... NCBI chr 1:5,862,811...5,992,425
Ensembl chr 1:5,862,811...5,992,473 		JBrowse link
G POLR2C RNA polymerase II subunit C IAGP ClinVar Annotator: match by term: Infertility ClinVar NCBI chr16:57,462,679...57,472,009
Ensembl chr16:57,462,660...57,472,009 		JBrowse link
G PROKR2 prokineticin receptor 2 IAGP ClinVar Annotator: match by term: Infertility ClinVar PMID:16537498 PMID:17054399 PMID:18559922 PMID:18682503 PMID:18723471 More... NCBI chr20:5,299,218...5,316,954
Ensembl chr20:5,299,218...5,316,954 		JBrowse link
G PTGER2 prostaglandin E receptor 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:10359563 NCBI chr14:52,314,312...52,328,598
Ensembl chr14:52,314,305...52,328,598 		JBrowse link
G TAC3 tachykinin precursor 3 IAGP ClinVar Annotator: match by term: Infertility ClinVar PMID:25636053 PMID:28492532 PMID:29419413 NCBI chr12:57,010,000...57,016,529
Ensembl chr12:57,010,000...57,028,883 		JBrowse link
G TGFBR3 transforming growth factor beta receptor 3 IAGP ClinVar Annotator: match by term: Infertility ClinVar PMID:23265383 NCBI chr 1:91,680,343...91,906,002
Ensembl chr 1:91,680,343...91,906,335 		JBrowse link
G TTC19 tetratricopeptide repeat domain 19 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21278747 NCBI chr17:15,999,824...16,045,015
Ensembl chr17:15,999,784...16,045,015 		JBrowse link
G ZSWIM7 zinc finger SWIM-type containing 7 IAGP ClinVar Annotator: match by term: Infertility ClinVar NCBI chr17:15,976,560...15,999,704
Ensembl chr17:15,976,560...15,999,717 		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 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26181198 NCBI chr11:62,690,262...62,709,537
Ensembl chr11:62,689,289...62,709,845 		JBrowse link
G CFAP251 cilia and flagella associated protein 251 IAGP ClinVar Annotator: match by term: asthenozoospermia ClinVar PMID:30122541 NCBI chr12:121,918,592...122,003,919
Ensembl chr12:121,918,592...122,003,927 		JBrowse link
G FAM83F family with sequence similarity 83 member F IAGP ClinVar Annotator: match by term: asthenozoospermia ClinVar PMID:25741868 NCBI chr22:39,994,954...40,043,534
Ensembl chr22:39,994,954...40,043,534 		JBrowse link
G GSTT1 glutathione S-transferase theta 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19303595
G PLAU plasminogen activator, urokinase ISO
EXP		 mRNA, protein:decreased expression:testes, epididymis (rat)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:18998460 PMID:18998460 RGD:7241809 NCBI chr10:73,909,164...73,917,494
Ensembl chr10:73,909,177...73,917,496 		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 IAGP ClinVar Annotator: match by term: Congenital bilateral aplasia of vas deferens from CFTR mutation ClinVar PMID:25741868 PMID:27476656 NCBI chr  X:18,989,307...19,122,956
Ensembl chr  X:18,989,307...19,122,637 		JBrowse link
G CFTR CF transmembrane conductance regulator IAGP ClinVar Annotator: match by term: Congenital bilateral aplasia of vas deferens from CFTR mutation OMIM
ClinVar		 PMID:754013 PMID:1282016 PMID:1283148 PMID:1283149 PMID:1284466 More... NCBI chr 7:117,480,025...117,668,665
Ensembl chr 7:117,287,120...117,715,971 		JBrowse link
G CFTR-AS1 CFTR antisense RNA 1 IAGP ClinVar Annotator: match by term: Congenital bilateral aplasia of vas deferens from CFTR mutation ClinVar PMID:1282016 PMID:1284466 PMID:1284477 PMID:1370875 PMID:1376016 More... NCBI chr 7:117,542,521...117,564,676
Ensembl chr 7:117,560,733...117,564,676 		JBrowse link
G LOC111674463 CFTR promoter region IAGP ClinVar Annotator: match by term: Congenital bilateral aplasia of vas deferens from CFTR mutation ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:117,476,071...117,480,094 JBrowse link
G LOC111674472 DNase I hypersensitive sites in introns 16 and 17a of CFTR IAGP ClinVar Annotator: match by term: Congenital bilateral aplasia of vas deferens from CFTR mutation ClinVar PMID:1284534 PMID:1284639 PMID:1379210 PMID:1695717 PMID:7504969 More... NCBI chr 7:117,607,047...117,612,650 JBrowse link
G LOC111674475 CFTR intron 11 enhancer IAGP ClinVar Annotator: match by term: Congenital bilateral aplasia of vas deferens from CFTR mutation ClinVar PMID:1283148 PMID:1284534 PMID:1377276 PMID:1379413 PMID:1518030 More... NCBI chr 7:117,587,146...117,589,449 JBrowse link
G LOC111674477 CFTR intron 23 enhancer IAGP ClinVar Annotator: match by term: Congenital bilateral aplasia of vas deferens from CFTR mutation ClinVar PMID:9499426 PMID:10562297 PMID:11504857 PMID:11938439 PMID:12578973 More... NCBI chr 7:117,665,695...117,667,138 JBrowse link
G LOC113633877 CFTR intron 19 DNase I hypersensitive site IAGP ClinVar Annotator: match by term: Congenital bilateral aplasia of vas deferens from CFTR mutation ClinVar PMID:1384328 PMID:7521937 PMID:7526685 PMID:7533604 PMID:8100293 More... NCBI chr 7:117,639,895...117,640,795 JBrowse link
G LOC113664106 CFTR intron 2 DNase I hypersensitive site IAGP ClinVar Annotator: match by term: Congenital bilateral aplasia of vas deferens from CFTR mutation ClinVar PMID:1284534 PMID:1537190 PMID:1695717 PMID:7508414 PMID:7541274 More... NCBI chr 7:117,508,463...117,509,063 JBrowse link
azoospermia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALB albumin EXP CTD Direct Evidence: therapeutic CTD PMID:27289041 NCBI chr 4:73,404,287...73,421,482
Ensembl chr 4:73,397,114...73,421,482 		JBrowse link
G BCL2 BCL2 apoptosis regulator EXP CTD Direct Evidence: marker/mechanism CTD PMID:20610805 NCBI chr18:63,123,346...63,320,090
Ensembl chr18:63,123,346...63,320,128 		JBrowse link
G BCL2L2 BCL2 like 2 ISO RGD PMID:9770502 RGD:14394611 NCBI chr14:23,306,833...23,311,751
Ensembl chr14:23,298,790...23,311,751 		JBrowse link
G BRDT bromodomain testis associated susceptibility IEP
IAGP		 protein:decreased expression:testis:
DNA:SNP: :rs3088232(human)		 RGD PMID:22035730 PMID:22016351 RGD:9586359, RGD:9586360 NCBI chr 1:91,949,371...92,014,428
Ensembl chr 1:91,949,343...92,014,426 		JBrowse link
G BSCL2 BSCL2 lipid droplet biogenesis associated, seipin ISO RGD PMID:25934999 RGD:11085488 NCBI chr11:62,690,262...62,709,537
Ensembl chr11:62,689,289...62,709,845 		JBrowse link
G C14orf39 chromosome 14 open reading frame 39 IAGP ClinVar Annotator: match by term: Azoospermia ClinVar PMID:33508233 NCBI chr14:60,435,956...60,515,544
Ensembl chr14:60,396,469...60,515,543 		JBrowse link
G CFTR CF transmembrane conductance regulator EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Obstructive azoospermia		 CTD
ClinVar		 PMID:1283148 PMID:1284534 PMID:1284535 PMID:1284639 PMID:1370875 More... NCBI chr 7:117,480,025...117,668,665
Ensembl chr 7:117,287,120...117,715,971 		JBrowse link
G CFTR-AS1 CFTR antisense RNA 1 IAGP ClinVar Annotator: match by term: Obstructive azoospermia ClinVar PMID:1284535 PMID:1370875 PMID:1377276 PMID:1379413 PMID:1380673 More... NCBI chr 7:117,542,521...117,564,676
Ensembl chr 7:117,560,733...117,564,676 		JBrowse link
G DDX25 DEAD-box helicase 25 IAGP ClinVar Annotator: match by term: Azoospermia ClinVar NCBI chr11:125,903,328...125,928,843
Ensembl chr11:125,903,348...125,943,702 		JBrowse link
G DMC1 DNA meiotic recombinase 1 IAGP ClinVar Annotator: match by term: Azoospermia ClinVar NCBI chr22:38,509,147...38,570,183
Ensembl chr22:38,518,948...38,570,204 		JBrowse link
G EPAS1 endothelial PAS domain protein 1 ISO RGD PMID:14608355 RGD:734934 NCBI chr 2:46,297,407...46,386,697
Ensembl chr 2:46,293,667...46,386,697 		JBrowse link
G ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit susceptibility IAGP DNA:snp:3' utr:c.8092C>A (human) RGD PMID:18616887 RGD:13207429 NCBI chr19:45,407,334...45,451,547
Ensembl chr19:45,407,334...45,478,828 		JBrowse link
G FAHD1 fumarylacetoacetate hydrolase domain containing 1 IAGP ClinVar Annotator: match by term: Azoospermia ClinVar NCBI chr16:1,827,206...1,840,207
Ensembl chr16:1,826,967...1,840,207 		JBrowse link
G FANCM FA complementation group M IAGP ClinVar Annotator: match by term: Azoospermia ClinVar PMID:17289582 PMID:18174376 PMID:19379763 PMID:23409019 PMID:23932590 More... NCBI chr14:45,135,930...45,200,890
Ensembl chr14:45,135,930...45,200,890 		JBrowse link
G GCNA germ cell nuclear acidic peptidase IAGP ClinVar Annotator: match by term: Azoospermia ClinVar PMID:35172124 NCBI chr  X:71,578,437...71,613,583
Ensembl chr  X:71,578,437...71,613,583 		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 chr 6:117,560,269...117,602,511
Ensembl chr 6:117,560,269...117,602,542 		JBrowse link
G HENMT1 HEN methyltransferase 1 IAGP ClinVar Annotator: match by term: Azoospermia ClinVar NCBI chr 1:108,648,295...108,661,474
Ensembl chr 1:108,648,290...108,661,526 		JBrowse link
G HFM1 helicase for meiosis 1 IAGP ClinVar Annotator: match by term: Azoospermia ClinVar NCBI chr 1:91,260,766...91,408,007
Ensembl chr 1:91,260,766...91,404,856 		JBrowse link
G HSD17B10 hydroxysteroid 17-beta dehydrogenase 10 ISO mRNA:increased expression:testis RGD PMID:9851691 RGD:13792783 NCBI chr  X:53,431,258...53,434,376
Ensembl chr  X:53,431,258...53,434,370 		JBrowse link
G KASH5 KASH domain containing 5 IAGP ClinVar Annotator: match by term: Azoospermia ClinVar NCBI chr19:49,388,249...49,417,990
Ensembl chr19:49,388,219...49,417,990 		JBrowse link
G LOC111674472 DNase I hypersensitive sites in introns 16 and 17a of CFTR IAGP ClinVar Annotator: match by term: Obstructive azoospermia ClinVar PMID:1284534 PMID:1379210 PMID:7512860 PMID:7529319 PMID:7539342 More... NCBI chr 7:117,607,047...117,612,650 JBrowse link
G LOC113664106 CFTR intron 2 DNase I hypersensitive site IAGP ClinVar Annotator: match by term: Obstructive azoospermia ClinVar PMID:23974870 PMID:25741868 PMID:28603918 NCBI chr 7:117,508,463...117,509,063 JBrowse link
G LOC113664107 CFTR intron 3 DNase I hypersensitive site IAGP ClinVar Annotator: match by term: Obstructive azoospermia ClinVar PMID:23974870 PMID:25741868 PMID:28603918 NCBI chr 7:117,509,543...117,510,143 JBrowse link
G MCM8 minichromosome maintenance 8 homologous recombination repair factor IAGP ClinVar Annotator: match by term: Azoospermia ClinVar NCBI chr20:5,950,652...5,998,977
Ensembl chr20:5,950,652...5,998,977 		JBrowse link
G MCMDC2 minichromosome maintenance domain containing 2 IAGP ClinVar Annotator: match by term: Azoospermia ClinVar NCBI chr 8:66,870,771...66,926,382
Ensembl chr 8:66,870,749...66,922,048 		JBrowse link
G MEIOB meiosis specific with OB-fold IAGP ClinVar Annotator: match by term: Azoospermia ClinVar NCBI chr16:1,833,986...1,872,164
Ensembl chr16:1,833,986...1,884,294 		JBrowse link
G MIR506 microRNA 506 EXP CTD Direct Evidence: marker/mechanism CTD PMID:27107421 NCBI chr  X:147,230,720...147,230,843
Ensembl chr  X:147,230,720...147,230,843 		JBrowse link
G MOV10L1 Mov10 like RNA helicase 1 IAGP ClinVar Annotator: match by term: Azoospermia ClinVar NCBI chr22:50,090,006...50,161,687
Ensembl chr22:50,090,006...50,161,690 		JBrowse link
G MSH5 mutS homolog 5 IAGP ClinVar Annotator: match by term: Azoospermia ClinVar NCBI chr 6:31,740,005...31,762,676
Ensembl chr 6:31,739,677...31,762,676 		JBrowse link
G MSH5-SAPCD1 MSH5-SAPCD1 readthrough (NMD candidate) IAGP ClinVar Annotator: match by term: Azoospermia ClinVar NCBI chr 6:31,739,948...31,764,850
Ensembl chr 6:31,740,020...31,764,851 		JBrowse link
G PDHA2 pyruvate dehydrogenase E1 subunit alpha 2 IAGP ClinVar Annotator: match by term: Azoospermia ClinVar PMID:29581481 PMID:35172124 NCBI chr 4:95,840,093...95,841,464
Ensembl chr 4:95,840,093...95,841,464 		JBrowse link
G REC8 REC8 meiotic recombination protein IAGP ClinVar Annotator: match by term: Azoospermia ClinVar NCBI chr14:24,172,080...24,180,923
Ensembl chr14:24,171,853...24,180,257 		JBrowse link
G SYCP3 synaptonemal complex protein 3 EXP
ISS		 CTD Direct Evidence: marker/mechanism CTD
MouseDO		 PMID:14643120 NCBI chr12:101,728,648...101,739,462
Ensembl chr12:101,728,648...101,739,472 		JBrowse link
G TDRD9 tudor domain containing 9 IAGP ClinVar Annotator: match by term: Azoospermia ClinVar NCBI chr14:103,928,456...104,052,667
Ensembl chr14:103,928,456...104,052,667 		JBrowse link
G TDRKH tudor and KH domain containing IAGP ClinVar Annotator: match by term: Azoospermia ClinVar NCBI chr 1:151,766,486...151,790,534
Ensembl chr 1:151,770,107...151,791,416 		JBrowse link
G TERB1 telomere repeat binding bouquet formation protein 1 IAGP ClinVar Annotator: match by term: Azoospermia ClinVar NCBI chr16:66,754,640...66,802,025
Ensembl chr16:66,754,640...66,801,620 		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 IAGP ClinVar Annotator: match by term: Azoospermia, obstructive, with nephrolithiasis ClinVar
OMIM		 PMID:31320686 NCBI chr  X:106,900,164...106,930,861
Ensembl chr  X:106,900,164...106,930,861 		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 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr  X:18,989,307...19,122,956
Ensembl chr  X:18,989,307...19,122,637 		JBrowse link
G CFTR CF transmembrane conductance regulator IAGP
EXP
ISO		 DNA:deletion, nonsense mutations, missense mutations: :multiple
ClinVar Annotator: match by term: Congenital bilateral absence of vas deferens
CTD Direct Evidence: marker/mechanism
associated with Cystic Fibrosis
DNA:deletion, missense mutations: :multiple		 ClinVar
CTD
RGD		 PMID:1381723 PMID:2344617 PMID:7506096 PMID:7539342 PMID:7573058 More... RGD:11566027, RGD:11566051, RGD:11566040 NCBI chr 7:117,480,025...117,668,665
Ensembl chr 7:117,287,120...117,715,971 		JBrowse link
G CFTR-AS1 CFTR antisense RNA 1 IAGP ClinVar Annotator: match by term: Congenital bilateral absence of vas deferens ClinVar PMID:1381723 PMID:2344617 PMID:7506096 PMID:7573058 PMID:7684641 More... NCBI chr 7:117,542,521...117,564,676
Ensembl chr 7:117,560,733...117,564,676 		JBrowse link
G LOC111674472 DNase I hypersensitive sites in introns 16 and 17a of CFTR IAGP ClinVar Annotator: match by term: Congenital bilateral absence of vas deferens ClinVar PMID:7539342 PMID:8530001 PMID:8662892 PMID:10762539 PMID:10923036 More... NCBI chr 7:117,607,047...117,612,650 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 IAGP ClinVar Annotator: match by term: Cryptozoospermia ClinVar PMID:25741868 PMID:32673564 NCBI chr 2:74,557,883...74,648,330
Ensembl chr 2:74,557,883...74,648,338 		JBrowse link
G SYCP2 synaptonemal complex protein 2 IAGP ClinVar Annotator: match by term: Cryptozoospermia ClinVar PMID:25741868 PMID:31866047 NCBI chr20:59,863,571...59,933,637
Ensembl chr20:59,863,564...59,933,655 		JBrowse link
G TRIM71 tripartite motif containing 71 IAGP ClinVar Annotator: match by term: Cryptozoospermia ClinVar PMID:25741868 NCBI chr 3:32,817,997...32,897,824
Ensembl chr 3:32,817,997...32,897,824 		JBrowse link
Deafness-Infertility Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CATSPER2 cation channel sperm associated 2 EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Deafness-infertility syndrome		 CTD
ClinVar		 PMID:19344877 PMID:24033266 PMID:25741868 NCBI chr15:43,628,503...43,648,884
Ensembl chr15:43,628,503...43,668,118 		JBrowse link
G CKMT1A creatine kinase, mitochondrial 1A IAGP ClinVar Annotator: match by term: Deafness-infertility syndrome ClinVar PMID:25741868 NCBI chr15:43,692,786...43,699,222
Ensembl chr15:43,692,886...43,699,222
Ensembl chr15:43,692,886...43,699,222 		JBrowse link
G CKMT1B creatine kinase, mitochondrial 1B IAGP ClinVar Annotator: match by term: Deafness-infertility syndrome ClinVar PMID:25741868 NCBI chr15:43,592,857...43,599,406
Ensembl chr15:43,593,054...43,604,901
Ensembl chr15:43,593,054...43,604,901 		JBrowse link
G LOC130056949 ATAC-STARR-seq lymphoblastoid active region 9317 IAGP ClinVar Annotator: match by term: Deafness-infertility syndrome ClinVar PMID:19344877 PMID:24033266 NCBI chr15:43,638,676...43,639,205 JBrowse link
G PDIA3 protein disulfide isomerase family A member 3 IAGP ClinVar Annotator: match by term: Deafness-infertility syndrome ClinVar PMID:25741868 NCBI chr15:43,746,438...43,773,278
Ensembl chr15:43,746,394...43,773,279 		JBrowse link
G PPIP5K1 diphosphoinositol pentakisphosphate kinase 1 IAGP ClinVar Annotator: match by term: Deafness-infertility syndrome ClinVar PMID:25741868 NCBI chr15:43,533,475...43,590,253
Ensembl chr15:43,533,462...43,590,208 		JBrowse link
G STRC stereocilin EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Deafness-infertility syndrome		 CTD
ClinVar		 PMID:18414213 PMID:21078986 PMID:22147502 PMID:24033266 PMID:25157971 More... NCBI chr15:43,599,563...43,618,800
Ensembl chr15:43,599,563...43,618,800 		JBrowse link
Female Infertility term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADIPOR1 adiponectin receptor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22265003 NCBI chr 1:202,940,825...202,958,572
Ensembl chr 1:202,940,826...202,958,572 		JBrowse link
G ADIPOR2 adiponectin receptor 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22265003 NCBI chr12:1,691,070...1,788,674
Ensembl chr12:1,688,574...1,788,674 		JBrowse link
G AFP alpha fetoprotein ISO RGD PMID:12297623 RGD:1300268 NCBI chr 4:73,436,221...73,456,174
Ensembl chr 4:73,431,138...73,456,174 		JBrowse link
G AHR aryl hydrocarbon receptor EXP CTD Direct Evidence: marker/mechanism CTD PMID:36029422 NCBI chr 7:17,298,652...17,346,147
Ensembl chr 7:16,916,359...17,346,152 		JBrowse link
G AR androgen receptor EXP CTD Direct Evidence: marker/mechanism CTD PMID:23710174 NCBI chr  X:67,544,021...67,730,619
Ensembl chr  X:67,544,021...67,730,619 		JBrowse link
G BMAL1 basic helix-loop-helix ARNT like 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20200203 NCBI chr11:13,276,652...13,387,266
Ensembl chr11:13,276,652...13,387,266 		JBrowse link
G BSG basigin (Ok blood group) ISO RGD PMID:9559645 RGD:734663 NCBI chr19:571,283...583,493
Ensembl chr19:571,277...583,494 		JBrowse link
G CACNA2D2 calcium voltage-gated channel auxiliary subunit alpha2delta 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:14660671 NCBI chr 3:50,362,613...50,504,244
Ensembl chr 3:50,362,613...50,504,244 		JBrowse link
G CCN2 cellular communication network factor 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21868453 NCBI chr 6:131,948,176...131,951,372
Ensembl chr 6:131,948,176...131,951,372 		JBrowse link
G CD9 CD9 molecule ISO RGD PMID:10634790 RGD:734730 NCBI chr12:6,199,946...6,238,266
Ensembl chr12:6,199,715...6,238,271 		JBrowse link
G CEBPA CCAAT enhancer binding protein alpha EXP CTD Direct Evidence: marker/mechanism CTD PMID:21177758 NCBI chr19:33,299,934...33,302,534
Ensembl chr19:33,299,934...33,302,534 		JBrowse link
G CEBPB CCAAT enhancer binding protein beta EXP CTD Direct Evidence: marker/mechanism CTD PMID:21177758 NCBI chr20:50,190,583...50,192,690
Ensembl chr20:50,190,830...50,192,668 		JBrowse link
G CYP17A1 cytochrome P450 family 17 subfamily A member 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18645707 NCBI chr10:102,830,531...102,837,413
Ensembl chr10:102,830,531...102,837,472 		JBrowse link
G CYP19A1 cytochrome P450 family 19 subfamily A member 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:14684609 NCBI chr15:51,208,057...51,338,596
Ensembl chr15:51,208,057...51,338,601 		JBrowse link
G DHFR dihydrofolate reductase EXP CTD Direct Evidence: therapeutic CTD PMID:17519396 NCBI chr 5:80,626,226...80,654,983
Ensembl chr 5:80,626,226...80,654,983 		JBrowse link
G DNMT3B DNA methyltransferase 3 beta EXP CTD Direct Evidence: marker/mechanism CTD PMID:34773530 NCBI chr20:32,762,385...32,809,356
Ensembl chr20:32,762,385...32,809,359 		JBrowse link
G ESR1 estrogen receptor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23710174 NCBI chr 6:151,656,672...152,129,619
Ensembl chr 6:151,656,691...152,129,619 		JBrowse link
G ESR2 estrogen receptor 2 EXP
ISO		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:23710174 PMID:28520870 RGD:38548924 NCBI chr14:64,226,707...64,338,613
Ensembl chr14:64,084,232...64,338,112 		JBrowse link
G FANCC FA complementation group C ISO RGD PMID:8704201 RGD:1300317 NCBI chr 9:95,099,054...95,317,709
Ensembl chr 9:95,099,054...95,426,796 		JBrowse link
G FSHB follicle stimulating hormone subunit beta EXP CTD Direct Evidence: marker/mechanism CTD PMID:8220432 NCBI chr11:30,231,014...30,235,194
Ensembl chr11:30,231,014...30,235,261 		JBrowse link
G GSTM1 glutathione S-transferase mu 1 IAGP DNA:deletion:: (human) RGD PMID:25010410 RGD:11556525 NCBI chr 1:109,687,817...109,693,745
Ensembl chr 1:109,687,814...109,709,039 		JBrowse link
G HSP90AB1 heat shock protein 90 alpha family class B member 1 IDA RGD PMID:19022436 RGD:10445839 NCBI chr 6:44,246,194...44,253,883
Ensembl chr 6:44,246,166...44,253,888 		JBrowse link
G HSPA5 heat shock protein family A (Hsp70) member 5 IMP RGD PMID:22143970 RGD:5685640 NCBI chr 9:125,234,853...125,241,343
Ensembl chr 9:125,234,853...125,241,382 		JBrowse link
G HTRA2 HtrA serine peptidase 2 ISO RGD PMID:22976834 RGD:10402865 NCBI chr 2:74,529,405...74,533,556
Ensembl chr 2:74,529,596...74,533,350 		JBrowse link
G ITGA2 integrin subunit alpha 2 ISO associated with Diabetes Mellitus, Insulin-Dependent; protein:altered expression:natural killer cell (mouse) RGD PMID:19146775 RGD:2307422 NCBI chr 5:52,989,352...53,094,779
Ensembl chr 5:52,989,340...53,094,779 		JBrowse link
G LEFTY2 left-right determination factor 2 IEP RGD PMID:10902804 RGD:1598793 NCBI chr 1:225,936,603...225,941,220
Ensembl chr 1:225,936,598...225,941,383 		JBrowse link
G LEP leptin EXP CTD Direct Evidence: marker/mechanism CTD PMID:22265003 NCBI chr 7:128,241,278...128,257,629
Ensembl chr 7:128,241,278...128,257,629 		JBrowse link
G LEPR leptin receptor EXP CTD Direct Evidence: marker/mechanism CTD PMID:22265003 NCBI chr 1:65,420,652...65,641,559
Ensembl chr 1:65,420,652...65,641,559 		JBrowse link
G LHB luteinizing hormone subunit beta EXP CTD Direct Evidence: marker/mechanism CTD PMID:9457942 NCBI chr19:49,015,980...49,019,498
Ensembl chr19:49,015,980...49,017,091 		JBrowse link
G LIF LIF interleukin 6 family cytokine EXP CTD Direct Evidence: marker/mechanism CTD PMID:23407384 NCBI chr22:30,240,453...30,246,759
Ensembl chr22:30,240,453...30,246,759 		JBrowse link
G MAPK1 mitogen-activated protein kinase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21177758 NCBI chr22:21,759,657...21,867,680
Ensembl chr22:21,759,657...21,867,680 		JBrowse link
G MAPK3 mitogen-activated protein kinase 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21177758 NCBI chr16:30,114,105...30,123,220
Ensembl chr16:30,114,105...30,123,506 		JBrowse link
G MTHFR methylenetetrahydrofolate reductase EXP CTD Direct Evidence: marker/mechanism CTD PMID:16679164 NCBI chr 1:11,785,723...11,805,964
Ensembl chr 1:11,785,723...11,806,455 		JBrowse link
G NASP nuclear autoantigenic sperm protein ISO RGD PMID:19219058 RGD:9590110 NCBI chr 1:45,584,041...45,618,893
Ensembl chr 1:45,583,846...45,618,904 		JBrowse link
G NR1I2 nuclear receptor subfamily 1 group I member 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23710174 NCBI chr 3:119,782,101...119,818,487
Ensembl chr 3:119,780,484...119,818,487 		JBrowse link
G NR2F2 nuclear receptor subfamily 2 group F member 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17590085 NCBI chr15:96,326,046...96,340,263
Ensembl chr15:96,325,938...96,340,263 		JBrowse link
G NR5A2 nuclear receptor subfamily 5 group A member 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17409375 NCBI chr 1:200,027,710...200,177,415
Ensembl chr 1:200,027,614...200,177,420 		JBrowse link
G PAPPA pappalysin 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20130263 NCBI chr 9:116,153,791...116,402,321
Ensembl chr 9:116,153,791...116,402,321 		JBrowse link
G PRL prolactin EXP CTD Direct Evidence: marker/mechanism CTD PMID:19531635 NCBI chr 6:22,287,246...22,302,835
Ensembl chr 6:22,287,244...22,302,826 		JBrowse link
G PROC protein C, inactivator of coagulation factors Va and VIIIa IDA RGD PMID:24189967 RGD:11099991 NCBI chr 2:127,418,427...127,429,242
Ensembl chr 2:127,418,427...127,429,242 		JBrowse link
G RNF212B ring finger protein 212B IAGP ClinVar Annotator: match by term: Female infertility ClinVar PMID:25741868 NCBI chr14:23,185,336...23,273,477
Ensembl chr14:23,185,316...23,273,477 		JBrowse link
G SMO smoothened, frizzled class receptor EXP CTD Direct Evidence: marker/mechanism CTD PMID:28560483 NCBI chr 7:129,188,633...129,213,545
Ensembl chr 7:129,188,633...129,213,545 		JBrowse link
G STAG3 STAG3 cohesin complex component IAGP ClinVar Annotator: match by term: Female infertility ClinVar PMID:25741868 NCBI chr 7:100,177,724...100,219,334
Ensembl chr 7:100,177,563...100,214,387 		JBrowse link
G TP53 tumor protein p53 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22532853 NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,546 		JBrowse link
G TSC2 TSC complex subunit 2 ISO RGD PMID:25189766 RGD:11568667 NCBI chr16:2,047,985...2,089,491
Ensembl chr16:2,047,967...2,089,491 		JBrowse link
G TUBB8 tubulin beta 8 class VIII IAGP ClinVar Annotator: match by term: Female infertility ClinVar PMID:25741868 NCBI chr10:46,455...76,621
Ensembl chr10:46,888...74,163 		JBrowse link
hypogonadotropic hypogonadism 24 without anosmia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARL14EP-DT ARL14EP divergent transcript IAGP ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 24 without anosmia ClinVar PMID:4344039 PMID:8220432 PMID:9271483 PMID:9280841 PMID:9624193 More... NCBI chr11:30,042,970...30,322,946 JBrowse link
G FSHB follicle stimulating hormone subunit beta IAGP
EXP		 ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 24 without anosmia
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:4344039 PMID:8220432 PMID:9271483 PMID:9280841 PMID:9624193 More... NCBI chr11:30,231,014...30,235,194
Ensembl chr11:30,231,014...30,235,261 		JBrowse link
male infertility term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACE angiotensin I converting enzyme EXP CTD Direct Evidence: marker/mechanism CTD PMID:8642790 PMID:12075344 NCBI chr17:63,477,061...63,498,373
Ensembl chr17:63,477,061...63,498,380 		JBrowse link
G ACTL7A actin like 7A IDA RGD PMID:26957350 RGD:13831339 NCBI chr 9:108,862,266...108,863,756
Ensembl chr 9:108,862,266...108,863,756 		JBrowse link
G ADAMTS16 ADAM metallopeptidase with thrombospondin type 1 motif 16 ISO RGD PMID:24983376 PMID:32037220 RGD:13434925, RGD:38548917 NCBI chr 5:5,140,330...5,320,304
Ensembl chr 5:5,140,330...5,320,304 		JBrowse link
G ADCY10 adenylate cyclase 10 IAGP ClinVar Annotator: match by term: Male infertility ClinVar NCBI chr 1:167,809,386...167,914,134
Ensembl chr 1:167,809,386...167,914,215 		JBrowse link
G AHR aryl hydrocarbon receptor EXP CTD Direct Evidence: marker/mechanism CTD PMID:21613234 NCBI chr 7:17,298,652...17,346,147
Ensembl chr 7:16,916,359...17,346,152 		JBrowse link
G AKAP4 A-kinase anchoring protein 4 ISO RGD PMID:12167408 RGD:632500 NCBI chr  X:50,190,777...50,201,007
Ensembl chr  X:50,190,777...50,201,007 		JBrowse link
G ALDH2 aldehyde dehydrogenase 2 family member EXP CTD Direct Evidence: marker/mechanism CTD PMID:24448831 NCBI chr12:111,766,933...111,817,532
Ensembl chr12:111,766,887...111,817,532 		JBrowse link
G AMELY amelogenin Y-linked IAGP ClinVar Annotator: match by term: Male infertility ClinVar NCBI chr  Y:6,865,918...6,911,752
Ensembl chr  Y:6,865,918...6,911,752 		JBrowse link
G AR androgen receptor EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Male infertility		 CTD
ClinVar		 PMID:1307250 PMID:1430233 PMID:7581399 PMID:7671849 PMID:8097257 More... NCBI chr  X:67,544,021...67,730,619
Ensembl chr  X:67,544,021...67,730,619 		JBrowse link
G ARL2BP ADP ribosylation factor like GTPase 2 binding protein ISS MouseDO NCBI chr16:57,245,259...57,253,635
Ensembl chr16:57,245,259...57,253,635 		JBrowse link
G ARMC2 armadillo repeat containing 2 ISS MouseDO NCBI chr 6:108,848,422...109,053,040
Ensembl chr 6:108,848,416...108,974,476 		JBrowse link
G AURKC aurora kinase C EXP CTD Direct Evidence: marker/mechanism CTD PMID:17435757 NCBI chr19:57,231,023...57,235,548
Ensembl chr19:57,231,009...57,235,548 		JBrowse link
G BAX BCL2 associated X, apoptosis regulator ISO
EXP		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:24723216 PMID:7569956 RGD:734632 NCBI chr19:48,954,875...48,961,798
Ensembl chr19:48,954,815...48,961,798 		JBrowse link
G BCL2 BCL2 apoptosis regulator EXP CTD Direct Evidence: marker/mechanism CTD PMID:24723216 NCBI chr18:63,123,346...63,320,090
Ensembl chr18:63,123,346...63,320,128 		JBrowse link
G BRWD1 bromodomain and WD repeat domain containing 1 IAGP ClinVar Annotator: match by term: Male infertility ClinVar PMID:33389130 NCBI chr21:39,184,176...39,321,212
Ensembl chr21:39,184,176...39,321,559 		JBrowse link
G BSCL2 BSCL2 lipid droplet biogenesis associated, seipin ISS MouseDO NCBI chr11:62,690,262...62,709,537
Ensembl chr11:62,689,289...62,709,845 		JBrowse link
G CABYR calcium binding tyrosine phosphorylation regulated ISS MouseDO NCBI chr18:24,139,062...24,161,600
Ensembl chr18:24,138,987...24,161,600 		JBrowse link
G CAMK4 calcium/calmodulin dependent protein kinase IV ISO RGD PMID:10932193 RGD:734683 NCBI chr 5:111,223,583...111,494,886
Ensembl chr 5:111,223,653...111,494,886 		JBrowse link
G CAPZA3 capping actin protein of muscle Z-line subunit alpha 3 IEP
ISO		 mRNA:decreased expression:semen
DNA:missense mutation: :p.M44K (human)		 RGD PMID:27114798 PMID:19341723 RGD:18899565, RGD:19165126 NCBI chr12:18,738,119...18,739,188
Ensembl chr12:18,738,119...18,739,188 		JBrowse link
G CATSPER1 cation channel sperm associated 1 IAGP ClinVar Annotator: match by term: Male infertility ClinVar NCBI chr11:66,016,752...66,026,479
Ensembl chr11:66,016,752...66,026,479 		JBrowse link
G CATSPER2 cation channel sperm associated 2 IAGP ClinVar Annotator: match by term: Male infertility ClinVar NCBI chr15:43,628,503...43,648,884
Ensembl chr15:43,628,503...43,668,118 		JBrowse link
G CATSPERB cation channel sperm associated auxiliary subunit beta IAGP ClinVar Annotator: match by term: Male infertility ClinVar NCBI chr14:91,580,698...91,732,086
Ensembl chr14:91,580,696...91,780,707 		JBrowse link
G CBL Cbl proto-oncogene EXP CTD Direct Evidence: marker/mechanism CTD PMID:16301331 NCBI chr11:119,206,339...119,308,149
Ensembl chr11:119,206,298...119,313,926 		JBrowse link
G CCDC146 coiled-coil domain containing 146 ISS MouseDO NCBI chr 7:77,122,615...77,295,204
Ensembl chr 7:77,122,434...77,329,533 		JBrowse link
G CCDC40 coiled-coil domain 40 molecular ruler complex subunit IAGP ClinVar Annotator: match by term: Male infertility ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr17:80,036,642...80,100,613
Ensembl chr17:80,036,632...80,100,613 		JBrowse link
G CDC14A cell division cycle 14A EXP CTD Direct Evidence: marker/mechanism CTD PMID:29293958 NCBI chr 1:100,345,001...100,520,277
Ensembl chr 1:100,345,001...100,520,277 		JBrowse link
G CFAP47 cilia and flagella associated protein 47 ISS MouseDO NCBI chr  X:35,919,734...36,385,317
Ensembl chr  X:35,919,734...36,385,317 		JBrowse link
G CFAP57 cilia and flagella associated protein 57 ISS MouseDO NCBI chr 1:43,172,330...43,254,358
Ensembl chr 1:43,172,330...43,254,358 		JBrowse link
G CFTR CF transmembrane conductance regulator EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Male infertility		 CTD
ClinVar		 PMID:7586569 PMID:7739684 PMID:9804160 PMID:11180668 PMID:11547256 More... NCBI chr 7:117,480,025...117,668,665
Ensembl chr 7:117,287,120...117,715,971 		JBrowse link
G CHEK1 checkpoint kinase 1 IAGP ClinVar Annotator: match by term: Male infertility due to gonadal dysgenesis or sperm disorder ClinVar PMID:25741868 NCBI chr11:125,625,136...125,681,124
Ensembl chr11:125,625,163...125,676,255 		JBrowse link
G CLDN2 claudin 2 IAGP ClinVar Annotator: match by term: Male infertility ClinVar PMID:31320686 NCBI chr  X:106,900,164...106,930,861
Ensembl chr  X:106,900,164...106,930,861 		JBrowse link
G CNOT7 CCR4-NOT transcription complex subunit 7 ISO mRNA:increased expression:testis RGD PMID:22785219 RGD:10755341 NCBI chr 8:17,224,966...17,246,857
Ensembl chr 8:17,224,966...17,246,878 		JBrowse link
G CSNK2A2 casein kinase 2 alpha 2 ISS MouseDO NCBI chr16:58,157,907...58,198,106
Ensembl chr16:58,157,907...58,198,106 		JBrowse link
G CST8 cystatin 8 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20811015 NCBI chr20:23,491,117...23,507,124
Ensembl chr20:23,491,101...23,496,010 		JBrowse link
G CYLC1 cylicin 1 ISS MouseDO NCBI chr  X:83,861,146...83,886,698
Ensembl chr  X:83,861,126...83,886,699 		JBrowse link
G CYP17A1 cytochrome P450 family 17 subfamily A member 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15890676 NCBI chr10:102,830,531...102,837,413
Ensembl chr10:102,830,531...102,837,472 		JBrowse link
G CYP1A1 cytochrome P450 family 1 subfamily A member 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19303595 NCBI chr15:74,719,542...74,725,528
Ensembl chr15:74,719,542...74,725,536 		JBrowse link
G DCAF6 DDB1 and CUL4 associated factor 6 IAGP ClinVar Annotator: match by term: Male infertility ClinVar NCBI chr 1:167,863,576...168,075,836
Ensembl chr 1:167,935,783...168,075,843 		JBrowse link
G DDX4 DEAD-box helicase 4 IAGP ClinVar Annotator: match by term: Male infertility ClinVar NCBI chr 5:55,738,061...55,817,157
Ensembl chr 5:55,738,017...55,817,157 		JBrowse link
G DNAAF4 dynein axonemal assembly factor 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23872636 NCBI chr15:55,417,755...55,508,234
Ensembl chr15:55,410,525...55,508,234 		JBrowse link
G DNAAF5 dynein axonemal assembly factor 5 ISS MouseDO NCBI chr 7:726,699...786,475
Ensembl chr 7:726,699...786,475 		JBrowse link
G DNAH10 dynein axonemal heavy chain 10 IAGP ClinVar Annotator: match by term: Male infertility ClinVar NCBI chr12:123,762,301...123,935,720
Ensembl chr12:123,762,188...123,935,720 		JBrowse link
G DNAH11 dynein axonemal heavy chain 11 IAGP ClinVar Annotator: match by term: Male infertility ClinVar PMID:22184204 PMID:25741868 NCBI chr 7:21,543,039...21,901,839
Ensembl chr 7:21,543,039...21,901,839 		JBrowse link
G DNAH5 dynein axonemal heavy chain 5 IAGP ClinVar Annotator: match by term: Male infertility ClinVar PMID:11788826 PMID:16627867 PMID:19357118 PMID:25741868 PMID:28492532 More... NCBI chr 5:13,690,328...14,011,818
Ensembl chr 5:13,690,328...14,011,818 		JBrowse link
G DNAI1 dynein axonemal intermediate chain 1 IAGP ClinVar Annotator: match by term: Male infertility ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:34,458,805...34,520,984
Ensembl chr 9:34,457,414...34,520,988 		JBrowse link
G DROSHA drosha ribonuclease III EXP CTD Direct Evidence: marker/mechanism CTD PMID:22381205 NCBI chr 5:31,400,494...31,532,093
Ensembl chr 5:31,400,494...31,532,196 		JBrowse link
G ELOVL2 ELOVL fatty acid elongase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21106902 NCBI chr 6:10,980,759...11,044,305
Ensembl chr 6:10,980,759...11,044,305 		JBrowse link
G ENO1 enolase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:27460355 NCBI chr 1:8,861,000...8,878,686
Ensembl chr 1:8,861,000...8,879,190 		JBrowse link
G ENO4 enolase 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23446454 NCBI chr10:116,849,499...116,912,375
Ensembl chr10:116,849,499...116,911,788 		JBrowse link
G ESR1 estrogen receptor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20833731 PMID:23213263 NCBI chr 6:151,656,672...152,129,619
Ensembl chr 6:151,656,691...152,129,619 		JBrowse link
G FAS Fas cell surface death receptor ISO protein:increased expression:testis (rat) RGD PMID:23441449 RGD:8663476 NCBI chr10:88,964,050...89,017,059
Ensembl chr10:88,953,813...89,029,605 		JBrowse link
G FKBP6 FKBP prolyl isomerase family member 6 (inactive) ISO
IAGP		 DNA:deletion:exon (rat)
ClinVar Annotator: match by term: Male infertility		 ClinVar
RGD		 PMID:25741868 PMID:36150389 PMID:12764197 PMID:12764197 RGD:1582485, RGD:1582485 NCBI chr 7:73,328,161...73,358,625
Ensembl chr 7:73,328,161...73,358,637 		JBrowse link
G FOXK2 forkhead box K2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:32522586 NCBI chr17:82,519,732...82,604,602
Ensembl chr17:82,519,713...82,644,662 		JBrowse link
G FSHB follicle stimulating hormone subunit beta EXP CTD Direct Evidence: marker/mechanism CTD PMID:387166 NCBI chr11:30,231,014...30,235,194
Ensembl chr11:30,231,014...30,235,261 		JBrowse link
G GALNTL5 polypeptide N-acetylgalactosaminyltransferase like 5 IAGP ClinVar Annotator: match by term: Male infertility ClinVar NCBI chr 7:151,956,446...152,019,929
Ensembl chr 7:151,956,379...152,019,929 		JBrowse link
G GNRH1 gonadotropin releasing hormone 1 EXP CTD Direct Evidence: therapeutic CTD PMID:20063086 NCBI chr 8:25,419,258...25,425,040
Ensembl chr 8:25,419,258...25,424,654 		JBrowse link
G GPAT2 glycerol-3-phosphate acyltransferase 2, mitochondrial IAGP ClinVar Annotator: match by term: Male infertility ClinVar NCBI chr 2:96,021,946...96,036,265
Ensembl chr 2:96,021,946...96,039,451 		JBrowse link
G GPR84-AS1 GPR84, ZNF385A, ITGA5 and GTSF1 antisense RNA 1 IAGP ClinVar Annotator: match by term: Male infertility ClinVar NCBI chr12:54,353,691...54,467,030
Ensembl chr12:54,353,661...54,497,688 		JBrowse link
G GPX3 glutathione peroxidase 3 treatment ISO RGD PMID:37260555 RGD:401827915 NCBI chr 5:151,020,591...151,028,988
Ensembl chr 5:151,020,591...151,028,988 		JBrowse link
G GPX4 glutathione peroxidase 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19417079 PMID:19744930 NCBI chr19:1,103,994...1,106,779
Ensembl chr19:1,103,982...1,106,791 		JBrowse link
G GTSF1 gametocyte specific factor 1 IAGP ClinVar Annotator: match by term: Male infertility ClinVar NCBI chr12:54,455,957...54,473,602
Ensembl chr12:54,455,950...54,473,602 		JBrowse link
G HENMT1 HEN methyltransferase 1 IAGP ClinVar Annotator: match by term: Male infertility ClinVar NCBI chr 1:108,648,295...108,661,474
Ensembl chr 1:108,648,290...108,661,526 		JBrowse link
G HORMAD1 HORMA domain containing 1 IAGP ClinVar Annotator: match by term: Male infertility ClinVar PMID:25741868 NCBI chr 1:150,698,060...150,720,895
Ensembl chr 1:150,698,060...150,720,895 		JBrowse link
G HOXD11 homeobox D11 EXP CTD Direct Evidence: marker/mechanism CTD PMID:7925020 NCBI chr 2:176,107,280...176,115,679
Ensembl chr 2:176,104,216...176,109,754 		JBrowse link
G KIF7 kinesin family member 7 IAGP ClinVar Annotator: match by term: Male infertility due to gonadal dysgenesis or sperm disorder ClinVar PMID:25741868 PMID:28492532 PMID:29286531 NCBI chr15:89,617,309...89,663,049
Ensembl chr15:89,608,789...89,663,086 		JBrowse link
G KIT KIT proto-oncogene, receptor tyrosine kinase ISO RGD PMID:12932303 RGD:1600050 NCBI chr 4:54,657,957...54,740,715
Ensembl chr 4:54,657,267...54,740,783 		JBrowse link
G KLK14 kallikrein related peptidase 14 IAGP ClinVar Annotator: match by term: Male infertility ClinVar NCBI chr19:51,077,494...51,084,210
Ensembl chr19:51,077,495...51,084,245 		JBrowse link
G KLK4 kallikrein related peptidase 4 IAGP ClinVar Annotator: match by term: Male infertility ClinVar NCBI chr19:50,906,351...50,911,395
Ensembl chr19:50,906,351...50,911,395 		JBrowse link
G KMT2D lysine methyltransferase 2D EXP CTD Direct Evidence: marker/mechanism CTD PMID:19348672 NCBI chr12:49,018,978...49,060,794
Ensembl chr12:49,018,975...49,060,794 		JBrowse link
G LDHC lactate dehydrogenase C EXP CTD Direct Evidence: marker/mechanism CTD PMID:21565994 PMID:23486916 NCBI chr11:18,412,318...18,452,063
Ensembl chr11:18,412,318...18,452,063 		JBrowse link
G LHB luteinizing hormone subunit beta EXP CTD Direct Evidence: marker/mechanism CTD PMID:387166 PMID:10739843 PMID:15602022 NCBI chr19:49,015,980...49,019,498
Ensembl chr19:49,015,980...49,017,091 		JBrowse link
G LHCGR luteinizing hormone/choriogonadotropin receptor EXP CTD Direct Evidence: marker/mechanism CTD PMID:20164437 NCBI chr 2:48,686,774...48,755,724
Ensembl chr 2:48,686,774...48,755,730 		JBrowse link
G LOC109504725 androgen receptor repeat instability region IAGP ClinVar Annotator: match by term: Male infertility ClinVar PMID:24033266 PMID:25741868 PMID:36572623 NCBI chr  X:67,545,317...67,545,419 JBrowse link
G LOC126861667 CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:124402328-124403527 IAGP ClinVar Annotator: match by term: Male infertility ClinVar NCBI chr12:123,917,781...123,918,980 JBrowse link
G LOC130055588 ATAC-STARR-seq lymphoblastoid silent region 5718 IAGP ClinVar Annotator: match by term: Male infertility due to gonadal dysgenesis or sperm disorder ClinVar PMID:29493581 NCBI chr14:50,231,170...50,232,249 JBrowse link
G LOC130056949 ATAC-STARR-seq lymphoblastoid active region 9317 IAGP ClinVar Annotator: match by term: Male infertility ClinVar NCBI chr15:43,638,676...43,639,205 JBrowse link
G LOC130066680 ATAC-STARR-seq lymphoblastoid silent region 13322 IAGP ClinVar Annotator: match by term: Male infertility ClinVar NCBI chr21:39,312,826...39,312,905 JBrowse link
G MAEL maelstrom spermatogenic transposon silencer IAGP ClinVar Annotator: match by term: Male infertility ClinVar NCBI chr 1:166,975,582...167,022,214
Ensembl chr 1:166,975,582...167,022,214 		JBrowse link
G MDM2 MDM2 proto-oncogene EXP CTD Direct Evidence: marker/mechanism CTD PMID:22773013 NCBI chr12:68,808,172...68,850,686
Ensembl chr12:68,808,177...68,845,544 		JBrowse link
G MOV10L1 Mov10 like RNA helicase 1 IAGP ClinVar Annotator: match by term: Male infertility ClinVar NCBI chr22:50,090,006...50,161,687
Ensembl chr22:50,090,006...50,161,690 		JBrowse link
G MTHFR methylenetetrahydrofolate reductase susceptibility IAGP
EXP		 DNA:polymorphism: :677C>T(human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:16861746 PMID:16247718 RGD:11565106 NCBI chr 1:11,785,723...11,805,964
Ensembl chr 1:11,785,723...11,806,455 		JBrowse link
G MTR 5-methyltetrahydrofolate-homocysteine methyltransferase EXP CTD Direct Evidence: marker/mechanism CTD PMID:16861746 NCBI chr 1:236,795,281...236,903,981
Ensembl chr 1:236,795,260...236,921,278 		JBrowse link
G MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase EXP CTD Direct Evidence: marker/mechanism CTD PMID:16861746 NCBI chr 5:7,850,859...7,901,113
Ensembl chr 5:7,851,186...7,906,025 		JBrowse link
G MYO6 myosin VI IAGP ClinVar Annotator: match by term: Male infertility ClinVar PMID:9536098 PMID:17576681 PMID:24033266 PMID:25741868 PMID:28492532 More... NCBI chr 6:75,749,239...75,919,537
Ensembl chr 6:75,749,201...75,919,537 		JBrowse link
G NANOS2 nanos C2HC-type zinc finger 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22190708 NCBI chr19:45,913,214...45,914,778
Ensembl chr19:45,913,214...45,914,778 		JBrowse link
G NOS3 nitric oxide synthase 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25517965 NCBI chr 7:150,991,017...151,014,588
Ensembl chr 7:150,991,017...151,014,588 		JBrowse link
G NR1H4 nuclear receptor subfamily 1 group H member 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:30245210 NCBI chr12:100,473,866...100,564,414
Ensembl chr12:100,473,708...100,564,414 		JBrowse link
G NR5A1 nuclear receptor subfamily 5 group A member 1 EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Male infertility		 CTD
ClinVar		 PMID:17940071 PMID:20887963 PMID:25741868 PMID:25989977 PMID:28492532 More... NCBI chr 9:124,481,236...124,507,399
Ensembl chr 9:124,481,236...124,507,420 		JBrowse link
G NSUN7 NOP2/Sun RNA methyltransferase family member 7 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17442852 NCBI chr 4:40,749,955...40,811,184
Ensembl chr 4:40,749,925...40,811,184 		JBrowse link
G NXF3 nuclear RNA export factor 3 IAGP ClinVar Annotator: match by term: Male infertility ClinVar PMID:25741868 NCBI chr  X:103,075,810...103,093,143
Ensembl chr  X:103,075,810...103,093,143 		JBrowse link
G NXT2 nuclear transport factor 2 like export factor 2 IAGP ClinVar Annotator: match by term: Male infertility ClinVar PMID:25741868 NCBI chr  X:109,535,824...109,544,698
Ensembl chr  X:109,535,781...109,544,698 		JBrowse link
G ODAD2 outer dynein arm docking complex subunit 2 IAGP ClinVar Annotator: match by term: Male infertility ClinVar NCBI chr10:27,812,168...27,999,675
Ensembl chr10:27,775,186...27,999,079 		JBrowse link
G OGG1 8-oxoguanine DNA glycosylase EXP CTD Direct Evidence: marker/mechanism CTD PMID:23376476 NCBI chr 3:9,749,952...9,783,108
Ensembl chr 3:9,749,944...9,788,219 		JBrowse link
G PDCL2 phosducin like 2 IAGP ClinVar Annotator: match by term: Male infertility ClinVar NCBI chr 4:55,556,519...55,592,245
Ensembl chr 4:55,556,519...55,592,245 		JBrowse link
G PIWIL1 piwi like RNA-mediated gene silencing 1 IAGP ClinVar Annotator: match by term: Male infertility ClinVar NCBI chr12:130,337,887...130,426,260
Ensembl chr12:130,337,887...130,372,637 		JBrowse link
G PIWIL2 piwi like RNA-mediated gene silencing 2 IAGP ClinVar Annotator: match by term: Male infertility ClinVar NCBI chr 8:22,275,316...22,357,568
Ensembl chr 8:22,275,316...22,357,568 		JBrowse link
G PLD6 phospholipase D family member 6 IAGP ClinVar Annotator: match by term: Male infertility ClinVar NCBI chr17:17,200,995...17,206,333
Ensembl chr17:17,200,995...17,206,333 		JBrowse link
G PMFBP1 polyamine modulated factor 1 binding protein 1 ISS MouseDO NCBI chr16:72,116,657...72,249,949
Ensembl chr16:72,112,157...72,176,878 		JBrowse link
G PNLDC1 PARN like ribonuclease domain containing exonuclease 1 IAGP ClinVar Annotator: match by term: Male infertility ClinVar NCBI chr 6:159,799,455...159,820,704
Ensembl chr 6:159,800,249...159,820,704 		JBrowse link
G POLG DNA polymerase gamma, catalytic subunit EXP CTD Direct Evidence: marker/mechanism CTD PMID:17923349 NCBI chr15:89,316,320...89,334,824
Ensembl chr15:89,305,198...89,334,861 		JBrowse link
G PON1 paraoxonase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21561808 PMID:22206979 NCBI chr 7:95,297,676...95,324,532
Ensembl chr 7:95,297,676...95,324,532 		JBrowse link
G RAD23B RAD23 homolog B, nucleotide excision repair protein EXP CTD Direct Evidence: marker/mechanism CTD PMID:11809813 NCBI chr 9:107,283,279...107,332,194
Ensembl chr 9:107,283,137...107,332,192 		JBrowse link
G RANBP2 RAN binding protein 2 ISO RGD PMID:21310149 RGD:9835350 NCBI chr 2:108,719,482...109,842,301
Ensembl chr 2:108,719,482...108,785,810 		JBrowse link
G RNF114 ring finger protein 114 IEP mRNA:decreased expression:testes (human) RGD PMID:12621547 RGD:1303956 NCBI chr20:49,936,397...49,953,885
Ensembl chr20:49,936,336...49,953,885 		JBrowse link
G RPGR retinitis pigmentosa GTPase regulator ISO RGD PMID:18579752 RGD:8553213 NCBI chr  X:38,269,163...38,327,509
Ensembl chr  X:38,269,163...38,327,544 		JBrowse link
G SELENOP selenoprotein P EXP CTD Direct Evidence: marker/mechanism CTD PMID:17961124 NCBI chr 5:42,799,880...42,811,892
Ensembl chr 5:42,799,880...42,887,392 		JBrowse link
G SMAD1 SMAD family member 1 ISO protein:decreased expression:spermatogonia, spermatocytes, spermatids RGD PMID:15704675 RGD:1643234 NCBI chr 4:145,480,770...145,559,176
Ensembl chr 4:145,481,194...145,559,176 		JBrowse link
G SOD2 superoxide dismutase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22206979 NCBI chr 6:159,669,069...159,762,281
Ensembl chr 6:159,669,069...159,762,529 		JBrowse link
G SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 IAGP ClinVar Annotator: match by term: Male subfertility ClinVar PMID:21387466 PMID:22585553 PMID:24033266 PMID:24451042 PMID:24803665 More... NCBI chr 2:38,981,549...39,124,868
Ensembl chr 2:38,962,206...39,124,345 		JBrowse link
G SOS2 SOS Ras/Rho guanine nucleotide exchange factor 2 IAGP ClinVar Annotator: match by term: Male infertility due to gonadal dysgenesis or sperm disorder ClinVar PMID:29493581 NCBI chr14:50,117,130...50,231,882
Ensembl chr14:50,117,130...50,231,578 		JBrowse link
G SOX30 SRY-box transcription factor 30 IAGP ClinVar Annotator: match by term: Male infertility ClinVar NCBI chr 5:157,625,679...157,671,480
Ensembl chr 5:157,625,679...157,671,480 		JBrowse link
G SPATA16 spermatogenesis associated 16 ISS MouseDO NCBI chr 3:172,889,357...173,141,235
Ensembl chr 3:172,889,357...173,141,235 		JBrowse link
G STX2 syntaxin 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18277055 NCBI chr12:130,789,600...130,839,250
Ensembl chr12:130,789,600...130,839,254 		JBrowse link
G SYCP3 synaptonemal complex protein 3 IAGP ClinVar Annotator: match by term: Male infertility ClinVar NCBI chr12:101,728,648...101,739,462
Ensembl chr12:101,728,648...101,739,472 		JBrowse link
G TAS1R3 taste 1 receptor member 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23818598 NCBI chr 1:1,331,280...1,335,314
Ensembl chr 1:1,331,280...1,335,314 		JBrowse link
G TCTE1 t-complex-associated-testis-expressed 1 ISS MouseDO NCBI chr 6:44,278,734...44,297,698
Ensembl chr 6:44,278,734...44,297,698 		JBrowse link
G TDRD1 tudor domain containing 1 IAGP ClinVar Annotator: match by term: Male infertility ClinVar NCBI chr10:114,174,874...114,232,666
Ensembl chr10:114,179,270...114,232,666 		JBrowse link
G TDRD12 tudor domain containing 12 IAGP ClinVar Annotator: match by term: Male infertility ClinVar PMID:25741868 NCBI chr19:32,719,767...32,829,580
Ensembl chr19:32,719,753...32,829,580 		JBrowse link
G TDRD7 tudor domain containing 7 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21436445 NCBI chr 9:97,412,096...97,496,125
Ensembl chr 9:97,412,096...97,496,125 		JBrowse link
G TDRD9 tudor domain containing 9 IAGP ClinVar Annotator: match by term: Male infertility ClinVar NCBI chr14:103,928,456...104,052,667
Ensembl chr14:103,928,456...104,052,667 		JBrowse link
G TP53 tumor protein p53 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22773013 NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,546 		JBrowse link
G TSC22D3 TSC22 domain family member 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22556341 NCBI chr  X:107,713,221...107,775,988
Ensembl chr  X:107,713,221...107,777,342 		JBrowse link
G TXNDC8 thioredoxin domain containing 8 IEP protein:increased expression:sperm (human) RGD PMID:15181017 RGD:1303999 NCBI chr 9:110,301,231...110,337,863
Ensembl chr 9:110,303,476...110,337,891 		JBrowse link
G USP26 ubiquitin specific peptidase 26 IAGP ClinVar Annotator: match by term: Male infertility ClinVar NCBI chr  X:133,023,168...133,097,109
Ensembl chr  X:133,023,168...133,097,109 		JBrowse link
G XRCC1 X-ray repair cross complementing 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:30998386 NCBI chr19:43,543,311...43,575,527
Ensembl chr19:43,543,311...43,580,473 		JBrowse link
G ZMYND15 zinc finger MYND-type containing 15 IAGP ClinVar Annotator: match by term: Male infertility ClinVar NCBI chr17:4,739,833...4,746,119
Ensembl chr17:4,739,833...4,746,119 		JBrowse link
male infertility due to acephalic spermatozoa term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCDC159 coiled-coil domain containing 159 ISS MouseDO NCBI chr19:11,346,519...11,354,944
Ensembl chr19:11,344,684...11,354,944 		JBrowse link
G CNTROB centrobin, centriole duplication and spindle assembly protein ISO DNA:insertion:intron 10 (rat) RGD PMID:19710508 RGD:150521555 NCBI chr17:7,932,081...7,949,920
Ensembl chr17:7,932,101...7,949,920 		JBrowse link
male infertility due to globozoospermia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HSP90B1 heat shock protein 90 beta family member 1 ISS MouseDO NCBI chr12:103,930,410...103,947,926
Ensembl chr12:103,930,107...103,953,931 		JBrowse link
G SPATA16 spermatogenesis associated 16 IAGP ClinVar Annotator: match by term: Globozoospermia ClinVar PMID:17847006 PMID:24265589 PMID:25741868 PMID:28492532 PMID:29065458 NCBI chr 3:172,889,357...173,141,235
Ensembl chr 3:172,889,357...173,141,235 		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 IAGP ClinVar Annotator: match by term: Morbid obesity and spermatogenic failure OMIM
ClinVar		 PMID:24268657 PMID:25741868 PMID:28492532 NCBI chr 3:196,706,277...196,712,250
Ensembl chr 3:196,706,277...196,712,250 		JBrowse link
oligoasthenoteratozoospermia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AGFG1 ArfGAP with FG repeats 1 ISS MouseDO NCBI chr 2:227,472,156...227,561,217
Ensembl chr 2:227,472,152...227,561,217 		JBrowse link
G BCORL1 BCL6 corepressor like 1 IAGP ClinVar Annotator: match by term: Oligoasthenoteratozoospermia ClinVar PMID:32376790 NCBI chr  X:129,980,313...130,058,071
Ensembl chr  X:129,981,107...130,058,071 		JBrowse link
G CCDC157 coiled-coil domain containing 157 ISS MouseDO NCBI chr22:30,356,624...30,378,673
Ensembl chr22:30,356,635...30,378,673 		JBrowse link
G CFAP58 cilia and flagella associated protein 58 ISS MouseDO NCBI chr10:104,338,520...104,455,102
Ensembl chr10:104,353,833...104,455,102 		JBrowse link
G CFAP61 cilia and flagella associated protein 61 ISS MouseDO NCBI chr20:20,052,532...20,360,698
Ensembl chr20:20,052,514...20,360,703 		JBrowse link
G CFAP70 cilia and flagella associated protein 70 ISS MouseDO NCBI chr10:73,253,762...73,362,979
Ensembl chr10:73,253,762...73,358,864 		JBrowse link
G MLX MAX dimerization protein MLX ISS MouseDO NCBI chr17:42,567,100...42,573,203
Ensembl chr17:42,567,072...42,573,239 		JBrowse link
G POC1B POC1 centriolar protein B ISS MouseDO NCBI chr12:89,401,467...89,526,047
Ensembl chr12:89,419,718...89,526,047 		JBrowse link
G PPP4C protein phosphatase 4 catalytic subunit ISS MouseDO NCBI chr16:30,075,994...30,085,376
Ensembl chr16:30,075,978...30,085,376 		JBrowse link
G SPATA20 spermatogenesis associated 20 ISS MouseDO NCBI chr17:50,547,174...50,555,852
Ensembl chr17:50,543,058...50,555,852 		JBrowse link
oligospermia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BCKDK branched chain keto acid dehydrogenase kinase ISO DNA:missense mutation:cds:G369E (rat) RGD PMID:27472223 RGD:39131293 NCBI chr16:31,108,386...31,117,640
Ensembl chr16:31,106,107...31,112,791 		JBrowse link
G BRDT bromodomain testis associated susceptibility IAGP DNA:SNP: :rs3088232(human) RGD PMID:22016351 RGD:9586360 NCBI chr 1:91,949,371...92,014,428
Ensembl chr 1:91,949,343...92,014,426 		JBrowse link
G BRWD1 bromodomain and WD repeat domain containing 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18353305 NCBI chr21:39,184,176...39,321,212
Ensembl chr21:39,184,176...39,321,559 		JBrowse link
G BSCL2 BSCL2 lipid droplet biogenesis associated, seipin EXP CTD Direct Evidence: marker/mechanism CTD PMID:26181198 NCBI chr11:62,690,262...62,709,537
Ensembl chr11:62,689,289...62,709,845 		JBrowse link
G CDC14A cell division cycle 14A EXP CTD Direct Evidence: marker/mechanism CTD PMID:29293958 NCBI chr 1:100,345,001...100,520,277
Ensembl chr 1:100,345,001...100,520,277 		JBrowse link
G CGA glycoprotein hormones, alpha polypeptide EXP CTD Direct Evidence: therapeutic CTD PMID:16483355 NCBI chr 6:87,085,498...87,095,106
Ensembl chr 6:87,085,498...87,095,106 		JBrowse link
G DICER1 dicer 1, ribonuclease III EXP CTD Direct Evidence: marker/mechanism CTD PMID:22381205 NCBI chr14:95,086,228...95,158,010
Ensembl chr14:95,086,228...95,158,010 		JBrowse link
G ESR1 estrogen receptor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20833731 NCBI chr 6:151,656,672...152,129,619
Ensembl chr 6:151,656,691...152,129,619 		JBrowse link
G FAM83F family with sequence similarity 83 member F IAGP ClinVar Annotator: match by term: Oligozoospermia ClinVar PMID:25741868 NCBI chr22:39,994,954...40,043,534
Ensembl chr22:39,994,954...40,043,534 		JBrowse link
G FSHB follicle stimulating hormone subunit beta EXP CTD Direct Evidence: marker/mechanism CTD PMID:4607150 NCBI chr11:30,231,014...30,235,194
Ensembl chr11:30,231,014...30,235,261 		JBrowse link
G KIF3B kinesin family member 3B IAGP ClinVar Annotator: match by term: Oligospermia ClinVar NCBI chr20:32,277,651...32,335,011
Ensembl chr20:32,277,651...32,335,011 		JBrowse link
G MSH4 mutS homolog 4 IAGP ClinVar Annotator: match by term: Oligospermia ClinVar PMID:25741868 PMID:33448284 NCBI chr 1:75,796,882...75,913,242
Ensembl chr 1:75,796,882...75,913,242 		JBrowse link
G NOS3 nitric oxide synthase 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:29983398 NCBI chr 7:150,991,017...151,014,588
Ensembl chr 7:150,991,017...151,014,588 		JBrowse link
G NR0B1 nuclear receptor subfamily 0 group B member 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23384712 NCBI chr  X:30,304,206...30,309,390
Ensembl chr  X:30,304,206...30,309,390 		JBrowse link
G PIWIL4 piwi like RNA-mediated gene silencing 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20940137 NCBI chr11:94,567,368...94,621,421
Ensembl chr11:94,543,840...94,621,421 		JBrowse link
G PNLDC1 PARN like ribonuclease domain containing exonuclease 1 IAGP ClinVar Annotator: match by term: Oligospermia ClinVar PMID:25741868 NCBI chr 6:159,799,455...159,820,704
Ensembl chr 6:159,800,249...159,820,704 		JBrowse link
G TBC1D25 TBC1 domain family member 25 IAGP ClinVar Annotator: match by term: Oligospermia ClinVar NCBI chr  X:48,539,714...48,562,609
Ensembl chr  X:48,539,714...48,562,609 		JBrowse link
G TERT telomerase reverse transcriptase EXP CTD Direct Evidence: marker/mechanism CTD PMID:37579952 NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068 		JBrowse link
G TPCN1 two pore segment channel 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:24451262 NCBI chr12:113,221,464...113,298,585
Ensembl chr12:113,221,050...113,298,585 		JBrowse link
G YTHDC2 YTH N6-methyladenosine RNA binding protein C2 EXP CTD Direct Evidence: therapeutic CTD PMID:34822792 NCBI chr 5:113,513,694...113,595,284
Ensembl chr 5:113,513,694...113,595,285 		JBrowse link
Oocyte Maturation Defect 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PABPC1L poly(A) binding protein cytoplasmic 1 like IAGP ClinVar Annotator: match by term: Oocyte maturation defect 1 ClinVar NCBI chr20:44,910,060...44,939,316
Ensembl chr20:44,910,060...44,959,035 		JBrowse link
G ZP1 zona pellucida glycoprotein 1 IAGP ClinVar Annotator: match by term: Oocyte maturation defect 1
ClinVar Annotator: match by term: OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 1 | ClinVar Annotator: match by term: Oocyte maturation defect 1		 ClinVar
OMIM		 PMID:24670168 PMID:25741868 PMID:30810869 NCBI chr11:60,867,542...60,875,687
Ensembl chr11:60,867,542...60,875,693 		JBrowse link
Oocyte Maturation Defect 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC130056977 ATAC-STARR-seq lymphoblastoid active region 9346 IAGP ClinVar Annotator: match by term: Oocyte maturation defect 2 ClinVar PMID:24033266 PMID:25741868 PMID:28965844 PMID:29661911 PMID:32552793 NCBI chr15:44,672,372...44,672,441 JBrowse link
G PATL2 PAT1 homolog 2 IAGP ClinVar Annotator: match by term: Oocyte maturation defect 2 ClinVar PMID:24033266 PMID:25741868 PMID:28965844 PMID:29661911 PMID:32552793 NCBI chr15:44,665,732...44,711,390
Ensembl chr15:44,665,732...44,711,323 		JBrowse link
G TUBB8 tubulin beta 8 class VIII IAGP ClinVar Annotator: match by term: Oocyte maturation defect 2 ClinVar
OMIM		 PMID:25741868 PMID:26789871 PMID:27273344 PMID:32063091 PMID:32524331 More... NCBI chr10:46,455...76,621
Ensembl chr10:46,888...74,163 		JBrowse link
Oocyte Maturation Defect 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ZP1 zona pellucida glycoprotein 1 IAGP ClinVar Annotator: match by term: Oocyte maturation defect 3 ClinVar PMID:25741868 NCBI chr11:60,867,542...60,875,687
Ensembl chr11:60,867,542...60,875,693 		JBrowse link
G ZP3 zona pellucida glycoprotein 3 IAGP ClinVar Annotator: match by term: Oocyte maturation defect 3 ClinVar
OMIM		 PMID:25741868 PMID:28886344 PMID:30810869 NCBI chr 7:76,397,522...76,442,069
Ensembl chr 7:76,397,518...76,442,071 		JBrowse link
Oocyte Maturation Defect 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC130056977 ATAC-STARR-seq lymphoblastoid active region 9346 IAGP ClinVar Annotator: match by term: Oocyte maturation defect 4 ClinVar PMID:24033266 PMID:25741868 PMID:28965844 PMID:29661911 PMID:32552793 NCBI chr15:44,672,372...44,672,441 JBrowse link
G PATL2 PAT1 homolog 2 IAGP ClinVar Annotator: match by term: Oocyte maturation defect 4 ClinVar
OMIM		 PMID:24033266 PMID:25741868 PMID:28965844 PMID:28965849 PMID:29661911 More... NCBI chr15:44,665,732...44,711,390
Ensembl chr15:44,665,732...44,711,323 		JBrowse link
Oocyte Maturation Defect 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G WEE2 WEE2 oocyte meiosis inhibiting kinase IAGP ClinVar Annotator: match by term: Oocyte maturation defect 5 OMIM
ClinVar		 PMID:25741868 PMID:29606300 PMID:30628060 NCBI chr 7:141,708,353...141,731,271
Ensembl chr 7:141,708,353...141,731,271 		JBrowse link
G WEE2-AS1 WEE2 antisense RNA 1 IAGP ClinVar Annotator: match by term: Oocyte maturation defect 5 ClinVar PMID:25741868 PMID:29606300 PMID:30628060 NCBI chr 7:141,704,338...141,738,230
Ensembl chr 7:141,704,003...141,738,346 		JBrowse link
Oocyte/Zygote/Embryo Maturation Arrest 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G REC114 REC114 meiotic recombination protein IAGP ClinVar Annotator: match by term: Oocyte maturation defect 10 OMIM
ClinVar		 PMID:31704776 NCBI chr15:73,443,164...73,560,013
Ensembl chr15:73,443,164...73,560,013 		JBrowse link
Oocyte/Zygote/Embryo Maturation Arrest 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ASTL astacin like metalloendopeptidase IAGP ClinVar Annotator: match by term: Oocyte maturation defect 11 OMIM
ClinVar		 PMID:34704130 NCBI chr 2:96,122,818...96,138,564
Ensembl chr 2:96,122,818...96,138,502 		JBrowse link
Oocyte/Zygote/Embryo Maturation Arrest 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FBXO43 F-box protein 43 IAGP ClinVar Annotator: match by term: Oocyte maturation defect 12 OMIM
ClinVar		 PMID:34052850 PMID:34595750 NCBI chr 8:100,133,351...100,150,569
Ensembl chr 8:100,133,351...100,145,817 		JBrowse link
Oocyte/Zygote/Embryo Maturation Arrest 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ZFP36L2 ZFP36 ring finger protein like 2 IAGP ClinVar Annotator: match by term: Oocyte maturation defect 13 OMIM
ClinVar		 PMID:34611029 NCBI chr 2:43,222,402...43,226,606
Ensembl chr 2:43,222,402...43,226,606 		JBrowse link
Oocyte/Zygote/Embryo Maturation Arrest 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDC20 cell division cycle 20 IAGP ClinVar Annotator: match by term: Oocyte maturation defect 14 ClinVar
OMIM		 PMID:25741868 PMID:32666501 PMID:33683667 PMID:33898437 PMID:34218387 NCBI chr 1:43,358,981...43,363,203
Ensembl chr 1:43,358,981...43,363,203 		JBrowse link
Oocyte/Zygote/Embryo Maturation Arrest 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TLE6 TLE family member 6, subcortical maternal complex member IAGP ClinVar Annotator: match by term: Preimplantation embryonic lethality 1 ClinVar
OMIM		 PMID:25741868 PMID:26537248 PMID:36271123 NCBI chr19:2,977,401...2,995,179
Ensembl chr19:2,977,538...2,995,179 		JBrowse link
Oocyte/Zygote/Embryo Maturation Arrest 16 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC126805634 CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:17707761-17708960 IAGP ClinVar Annotator: match by term: Preimplantation embryonic lethality 2 ClinVar PMID:25741868 PMID:27545678 PMID:34987164 NCBI chr 1:17,381,266...17,382,465 JBrowse link
G LOC126805635 BRD4-independent group 4 enhancer GRCh37_chr1:17720217-17721416 IAGP ClinVar Annotator: match by term: Preimplantation embryonic lethality 2 ClinVar PMID:25741868 PMID:27545678 PMID:34987164 NCBI chr 1:17,393,721...17,394,920 JBrowse link
G PADI6 peptidyl arginine deiminase 6 IAGP ClinVar Annotator: match by term: Preimplantation embryonic lethality 2 OMIM
ClinVar		 PMID:17587491 PMID:18599511 PMID:25741868 PMID:27545678 PMID:34987164 More... NCBI chr 1:17,372,196...17,401,699
Ensembl chr 1:17,372,196...17,401,699 		JBrowse link
Oocyte/Zygote/Embryo Maturation Arrest 17 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KPNA7 karyopherin subunit alpha 7 IAGP ClinVar Annotator: match by term: Oocyte/zygote/embryo maturation arrest 17 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29302074 PMID:36647821 NCBI chr 7:99,145,804...99,219,419
Ensembl chr 7:99,173,572...99,250,075 		JBrowse link
Oocyte/Zygote/Embryo Maturation Arrest 18 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NLRP2 NLR family pyrin domain containing 2 IAGP ClinVar Annotator: match by term: Oocyte/zygote/embryo maturation arrest 18 OMIM
ClinVar		 PMID:25741868 PMID:30877238 NCBI chr19:54,965,284...55,001,138
Ensembl chr19:54,953,130...55,001,142 		JBrowse link
Oocyte/Zygote/Embryo Maturation Arrest 19 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC126862935 BRD4-independent group 4 enhancer GRCh37_chr19:56537936-56539135 IAGP ClinVar Annotator: match by term: Oocyte/zygote/embryo maturation arrest 19 ClinVar PMID:30877238 NCBI chr19:56,026,570...56,027,769 JBrowse link
G NLRP5 NLR family pyrin domain containing 5 IAGP ClinVar Annotator: match by term: Oocyte/zygote/embryo maturation arrest 19 OMIM
ClinVar		 PMID:30877238 PMID:35946397 NCBI chr19:55,999,726...56,061,810
Ensembl chr19:55,999,726...56,061,810 		JBrowse link
Oocyte/Zygote/Embryo Maturation Arrest 20 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MOS MOS proto-oncogene, serine/threonine kinase IAGP ClinVar Annotator: match by term: Oocyte/zygote/embryo maturation arrest 20 OMIM
ClinVar		 PMID:34779126 PMID:34997960 PMID:35670744 PMID:36403623 NCBI chr 8:56,112,942...56,113,982
Ensembl chr 8:56,112,942...56,113,982 		JBrowse link
Oocyte/Zygote/Embryo Maturation Arrest 21 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CHEK1 checkpoint kinase 1 IAGP ClinVar Annotator: match by term: Oocyte/zygote/embryo maturation arrest 21 OMIM
ClinVar		 PMID:25741868 PMID:33948904 PMID:33953335 NCBI chr11:125,625,136...125,681,124
Ensembl chr11:125,625,163...125,676,255 		JBrowse link
Oocyte/Zygote/Embryo Maturation Arrest 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ZP2 zona pellucida glycoprotein 2 IAGP ClinVar Annotator: match by term: Oocyte maturation defect 6 OMIM
ClinVar		 PMID:25741868 PMID:28971300 PMID:29895852 PMID:30810869 PMID:35211729 NCBI chr16:21,197,450...21,214,510
Ensembl chr16:21,197,450...21,214,510 		JBrowse link
Oocyte/Zygote/Embryo Maturation Arrest 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC130006599 ATAC-STARR-seq lymphoblastoid active region 5402 IAGP ClinVar Annotator: match by term: Oocyte maturation defect 7 ClinVar PMID:25741868 PMID:30918116 NCBI chr11:94,129,154...94,129,413 JBrowse link
G PANX1 pannexin 1 IAGP ClinVar Annotator: match by term: Oocyte maturation defect 7 OMIM
ClinVar		 PMID:25741868 PMID:30918116 NCBI chr11:94,128,841...94,181,968
Ensembl chr11:94,128,841...94,181,968 		JBrowse link
Oocyte/Zygote/Embryo Maturation Arrest 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BTG4 BTG anti-proliferation factor 4 IAGP ClinVar Annotator: match by term: Oocyte maturation defect 8 OMIM
ClinVar		 PMID:25741868 PMID:32502391 PMID:34647228 NCBI chr11:111,383,826...111,514,725
Ensembl chr11:111,467,526...111,514,367 		JBrowse link
Oocyte/Zygote/Embryo Maturation Arrest 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TRIP13 thyroid hormone receptor interactor 13 IAGP ClinVar Annotator: match by term: Oocyte maturation defect 9 OMIM
ClinVar		 PMID:25741868 PMID:32473092 NCBI chr 5:892,884...919,348
Ensembl chr 5:892,884...919,357 		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 chr22:38,509,147...38,570,183
Ensembl chr22:38,518,948...38,570,204 		JBrowse link
G HNRNPL heterogeneous nuclear ribonucleoprotein L IEP protein:decreased expression:testis (human) RGD PMID:22245417 RGD:9999426 NCBI chr19:38,836,370...38,852,347
Ensembl chr19:38,836,370...38,852,347 		JBrowse link
G NUPR1 nuclear protein 1, transcriptional regulator ISS OMIM:305700 | OMIM:400042 MouseDO NCBI chr16:28,532,708...28,538,974
Ensembl chr16:28,532,708...28,539,008 		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 IAGP ClinVar Annotator: match by term: Spermatogenic Failure ClinVar NCBI chr19:57,231,023...57,235,548
Ensembl chr19:57,231,009...57,235,548 		JBrowse link
G CCDC34 coiled-coil domain containing 34 ISS MouseDO NCBI chr11:27,338,512...27,363,215
Ensembl chr11:27,330,827...27,363,234 		JBrowse link
G DNAH10 dynein axonemal heavy chain 10 ISS MouseDO NCBI chr12:123,762,301...123,935,720
Ensembl chr12:123,762,188...123,935,720 		JBrowse link
G NLRP14 NLR family pyrin domain containing 14 IAGP ClinVar Annotator: match by term: Spermatogenic Failure ClinVar PMID:16931801 PMID:20981092 PMID:22344438 PMID:24033266 PMID:25741868 NCBI chr11:7,020,446...7,090,900
Ensembl chr11:7,020,479...7,071,526 		JBrowse link
G REDIC1 regulator of DNA class I crossover intermediates 1 IAGP ClinVar Annotator: match by term: Spermatogenic Failure ClinVar NCBI chr12:39,626,183...39,908,300
Ensembl chr12:39,626,167...39,908,300 		JBrowse link
G SOHLH1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 IAGP ClinVar Annotator: match by term: Spermatogenic Failure ClinVar PMID:20506135 PMID:28492532 PMID:28718531 NCBI chr 9:135,693,407...135,702,112
Ensembl chr 9:135,693,407...135,704,498 		JBrowse link
G SPATA16 spermatogenesis associated 16 IAGP ClinVar Annotator: match by term: Spermatogenic Failure ClinVar NCBI chr 3:172,889,357...173,141,235
Ensembl chr 3:172,889,357...173,141,235 		JBrowse link
G SYCP3 synaptonemal complex protein 3 IAGP ClinVar Annotator: match by term: Spermatogenic Failure ClinVar NCBI chr12:101,728,648...101,739,462
Ensembl chr12:101,728,648...101,739,472 		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 IAGP ClinVar Annotator: match by term: Oligosynaptic infertility ClinVar PMID:228900 PMID:258150 NCBI chr 4:112,705,622...113,383,736
Ensembl chr 4:112,818,032...113,384,221 		JBrowse link
G ANKRD36 ankyrin repeat domain 36 IAGP ClinVar Annotator: match by term: Oligosynaptic infertility ClinVar NCBI chr 2:97,113,153...97,264,521
Ensembl chr 2:97,113,153...97,264,521 		JBrowse link
G DNAH1 dynein axonemal heavy chain 1 IAGP ClinVar Annotator: match by term: Oligosynaptic infertility ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:52,310,920...52,400,492
Ensembl chr 3:52,316,319...52,400,492 		JBrowse link
G LOC126807137 CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:114276560-114277759 IAGP ClinVar Annotator: match by term: Oligosynaptic infertility ClinVar PMID:228900 PMID:258150 NCBI chr 4:113,355,404...113,356,603 JBrowse link
G NR5A1 nuclear receptor subfamily 5 group A member 1 IAGP ClinVar Annotator: match by term: Oligosynaptic infertility ClinVar PMID:9536098 PMID:10369247 PMID:11038323 PMID:12907682 PMID:16199547 More... NCBI chr 9:124,481,236...124,507,399
Ensembl chr 9:124,481,236...124,507,420 		JBrowse link
G PDHA2 pyruvate dehydrogenase E1 subunit alpha 2 IAGP ClinVar Annotator: match by term: Oligosynaptic infertility ClinVar PMID:29581481 PMID:35172124 NCBI chr 4:95,840,093...95,841,464
Ensembl chr 4:95,840,093...95,841,464 		JBrowse link
G SYCP2 synaptonemal complex protein 2 IAGP ClinVar Annotator: match by term: Oligosynaptic infertility
ClinVar Annotator: match by term: OLIGOCHIASMATIC INFERTILITY | ClinVar Annotator: match by term: Oligosynaptic infertility		 OMIM
ClinVar		 PMID:25741868 PMID:31866047 NCBI chr20:59,863,571...59,933,637
Ensembl chr20:59,863,564...59,933,655 		JBrowse link
G TEX15 testis expressed 15, meiosis and synapsis associated IAGP ClinVar Annotator: match by term: Oligosynaptic infertility ClinVar PMID:26199321 NCBI chr 8:30,831,544...30,913,008
Ensembl chr 8:30,831,544...30,913,008 		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 IAGP ClinVar Annotator: match by term: Spermatogenic failure 10 ClinVar
OMIM		 PMID:22275165 PMID:22479503 PMID:25741868 NCBI chr16:4,777,606...4,791,828
Ensembl chr16:4,777,606...4,788,398 		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 IAGP ClinVar Annotator: match by term: Spermatogenic failure 11 ClinVar
OMIM		 PMID:17047026 PMID:25741868 PMID:28492532 NCBI chr17:41,835,685...41,848,384
Ensembl chr17:41,835,685...41,848,384 		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 IAGP OMIM NCBI chr10:119,029,714...119,033,730
Ensembl chr10:119,029,714...119,033,730 		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 IAGP ClinVar Annotator: match by term: Spermatogenic failure 13 ClinVar
OMIM		 PMID:24431330 NCBI chr18:26,226,445...26,391,685
Ensembl chr18:26,226,445...26,391,685 		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 IAGP ClinVar Annotator: match by term: Spermatogenic failure 14 OMIM
ClinVar		 PMID:33169450 NCBI chr17:4,739,833...4,746,119
Ensembl chr17:4,739,833...4,746,119 		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 IAGP ClinVar Annotator: match by term: Spermatogenic failure 15 ClinVar
OMIM		 PMID:25899990 NCBI chr10:133,553,899...133,568,291
Ensembl chr10:133,553,901...133,569,835 		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 IAGP ClinVar Annotator: match by term: Spermatogenic failure 16 OMIM
ClinVar		 PMID:25741868 PMID:27640305 PMID:28492532 PMID:29331481 NCBI chr20:32,983,775...33,004,433
Ensembl chr20:32,983,773...33,004,433 		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 IAGP ClinVar Annotator: match by term: Spermatogenic failure 17 ClinVar PMID:25741868 PMID:26721930 PMID:31463947 PMID:36593593 PMID:37004249 NCBI chr12:18,242,961...18,726,817
Ensembl chr12:18,242,961...18,648,416 		JBrowse link
G PLCZ1 phospholipase C zeta 1 IAGP ClinVar Annotator: match by term: Spermatogenic failure 17 OMIM
ClinVar		 PMID:25741868 PMID:26721930 PMID:31463947 PMID:36593593 PMID:37004249 NCBI chr12:18,645,609...18,738,012
Ensembl chr12:18,683,169...18,738,100 		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 IAGP ClinVar Annotator: match by term: Spermatogenic failure 18 ClinVar PMID:30122540 NCBI chr12:121,918,592...122,003,919
Ensembl chr12:121,918,592...122,003,927 		JBrowse link
G DNAH1 dynein axonemal heavy chain 1 IAGP ClinVar Annotator: match by term: Spermatogenic failure 18 ClinVar
OMIM		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:24033266 PMID:24360805 More... NCBI chr 3:52,310,920...52,400,492
Ensembl chr 3:52,316,319...52,400,492 		JBrowse link
G DNAH3 dynein axonemal heavy chain 3 IAGP ClinVar Annotator: match by term: Spermatogenic failure 18 ClinVar PMID:32017041 NCBI chr16:20,933,111...21,159,459
Ensembl chr16:20,933,111...21,159,441 		JBrowse link
G LOC124849266 Sharpr-MPRA regulatory region 10891 IAGP ClinVar Annotator: match by term: Spermatogenic failure 18 ClinVar PMID:30122540 NCBI chr12:121,995,023...121,995,317 JBrowse link
G PSMD12 proteasome 26S subunit, non-ATPase 12 IAGP ClinVar Annotator: match by term: Spermatogenic failure 18 ClinVar NCBI chr17:67,337,916...67,366,577
Ensembl chr17:67,337,916...67,366,605 		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 IAGP
ISS		 ClinVar Annotator: match by term: Spermatogenic failure 19
OMIM:617592		 ClinVar
MouseDO
OMIM		 PMID:25741868 PMID:28552195 PMID:29277146 PMID:29449551 NCBI chr10:104,129,888...104,232,364
Ensembl chr10:104,129,888...104,232,364 		JBrowse link
spermatogenic failure 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MSH4 mutS homolog 4 IAGP ClinVar Annotator: match by term: Spermatogenic failure 2 OMIM
ClinVar		 PMID:25741868 PMID:33437391 PMID:33448284 PMID:34755185 PMID:35090489 NCBI chr 1:75,796,882...75,913,242
Ensembl chr 1:75,796,882...75,913,242 		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 IAGP
ISS		 ClinVar Annotator: match by term: Spermatogenic failure 20
OMIM:617593		 ClinVar
MouseDO
OMIM		 PMID:25741868 PMID:28552195 PMID:29277146 PMID:29449551 NCBI chr 3:113,286,930...113,441,514
Ensembl chr 3:113,286,930...113,441,610 		JBrowse link
G CFAP44-AS1 CFAP44 antisense RNA 1 IAGP ClinVar Annotator: match by term: Spermatogenic failure 20 ClinVar PMID:25741868 NCBI chr 3:113,403,998...113,433,992
Ensembl chr 3:113,403,988...113,433,992 		JBrowse link
G SPICE1 spindle and centriole associated protein 1 IAGP ClinVar Annotator: match by term: Spermatogenic failure 20 ClinVar PMID:25741868 PMID:28552195 PMID:29277146 PMID:29449551 NCBI chr 3:113,286,930...113,515,156
Ensembl chr 3:113,442,718...113,515,187 		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 IAGP ClinVar Annotator: match by term: Spermatogenic failure 21 ClinVar
OMIM		 PMID:28199965 NCBI chr 1:91,949,371...92,014,428
Ensembl chr 1:91,949,343...92,014,426 		JBrowse link
spermatogenic failure 22 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FAHD1 fumarylacetoacetate hydrolase domain containing 1 IAGP ClinVar Annotator: match by term: Spermatogenic failure 22 ClinVar PMID:35991565 NCBI chr16:1,827,206...1,840,207
Ensembl chr16:1,826,967...1,840,207 		JBrowse link
G MEIOB meiosis specific with OB-fold IAGP ClinVar Annotator: match by term: Spermatogenic failure 22 ClinVar
OMIM		 PMID:28206990 PMID:28492532 PMID:30838384 PMID:34392356 PMID:35991565 More... NCBI chr16:1,833,986...1,872,164
Ensembl chr16:1,833,986...1,884,294 		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 IAGP ClinVar Annotator: match by term: Spermatogenic failure 23 ClinVar
OMIM		 PMID:25741868 PMID:28206990 PMID:28492532 PMID:29790874 PMID:31479588 NCBI chr17:58,556,678...58,692,045
Ensembl chr17:58,556,678...58,692,055 		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 IAGP
ISS		 ClinVar Annotator: match by term: Spermatogenic failure 24
OMIM:617959		 OMIM
ClinVar
MouseDO		 PMID:25741868 PMID:29606301 PMID:30415212 NCBI chr 7:90,245,174...90,323,723
Ensembl chr 7:90,245,174...90,311,063 		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 IAGP ClinVar Annotator: match by term: Spermatogenic failure 25 ClinVar
OMIM		 PMID:25741868 PMID:26199321 PMID:28355598 PMID:28492532 NCBI chr 8:30,831,544...30,913,008
Ensembl chr 8:30,831,544...30,913,008 		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 IAGP ClinVar Annotator: match by term: Spermatogenic failure 26 ClinVar
OMIM		 PMID:28905369 NCBI chr 2:98,997,261...99,154,966
Ensembl chr 2:98,997,261...99,154,964 		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 IAGP ClinVar Annotator: match by term: Spermatogenic failure 27 ClinVar
OMIM		 PMID:25741868 PMID:28492532 PMID:29365104 NCBI chr14:96,392,128...96,489,427
Ensembl chr14:96,392,128...96,489,427 		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 IAGP ClinVar Annotator: match by term: Spermatogenic failure 28 ClinVar
OMIM		 PMID:2867840 PMID:9536098 PMID:17289582 PMID:17576681 PMID:18174376 More... NCBI chr14:45,135,930...45,200,890
Ensembl chr14:45,135,930...45,200,890 		JBrowse link
G LOC130055524 ATAC-STARR-seq lymphoblastoid active region 8299 IAGP ClinVar Annotator: match by term: Spermatogenic failure 28 ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:33471991 NCBI chr14:45,136,084...45,136,133 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 IAGP ClinVar Annotator: match by term: Spermatogenic failure 29 ClinVar
OMIM		 PMID:25741868 PMID:28554943 NCBI chr 4:56,809,860...56,821,869
Ensembl chr 4:56,809,860...56,821,742 		JBrowse link
spermatogenic failure 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AC009123.1 novel transcript, antisense to ADAD2 IAGP ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar PMID:25741868 NCBI chr16:84,192,558...84,197,053
Ensembl chr16:84,192,558...84,197,053 		JBrowse link
G ADAD2 adenosine deaminase domain containing 2 IAGP ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar PMID:25741868 NCBI chr16:84,191,157...84,197,166
Ensembl chr16:84,191,138...84,197,168 		JBrowse link
G AR androgen receptor IAGP ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar PMID:25741868 PMID:28492532 PMID:36572623 NCBI chr  X:67,544,021...67,730,619
Ensembl chr  X:67,544,021...67,730,619 		JBrowse link
G AXDND1 axonemal dynein light chain domain containing 1 IAGP ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar PMID:25741868 NCBI chr 1:179,365,705...179,554,735
Ensembl chr 1:179,365,720...179,554,735 		JBrowse link
G C14orf39 chromosome 14 open reading frame 39 IAGP ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar PMID:33508233 NCBI chr14:60,435,956...60,515,544
Ensembl chr14:60,396,469...60,515,543 		JBrowse link
G DDX3Y DEAD-box helicase 3 Y-linked IAGP ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar PMID:25741868 NCBI chr  Y:12,903,999...12,920,478
Ensembl chr  Y:12,904,108...12,920,478 		JBrowse link
G DMRT1 doublesex and mab-3 related transcription factor 1 IAGP ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar PMID:24934491 PMID:25741868 PMID:28492532 PMID:31479588 NCBI chr 9:841,697...969,090
Ensembl chr 9:841,690...969,090 		JBrowse link
G DNMT3B DNA methyltransferase 3 beta IAGP ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar PMID:10647011 PMID:11102980 PMID:11919202 PMID:15580563 PMID:25741868 More... NCBI chr20:32,762,385...32,809,356
Ensembl chr20:32,762,385...32,809,359 		JBrowse link
G FOXP3 forkhead box P3 IAGP ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar PMID:24258212 PMID:25741868 PMID:28492532 NCBI chr  X:49,250,438...49,264,710
Ensembl chr  X:49,250,438...49,264,800 		JBrowse link
G GCNA germ cell nuclear acidic peptidase IAGP ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar PMID:25741868 PMID:33963445 PMID:34413498 NCBI chr  X:71,578,437...71,613,583
Ensembl chr  X:71,578,437...71,613,583 		JBrowse link
G KLHL10 kelch like family member 10 IAGP ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar PMID:25741868 PMID:28492532 PMID:31479588 NCBI chr17:41,835,685...41,848,384
Ensembl chr17:41,835,685...41,848,384 		JBrowse link
G L3MBTL2 L3MBTL histone methyl-lysine binding protein 2 IAGP ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar NCBI chr22:41,205,312...41,231,271
Ensembl chr22:41,205,282...41,231,271 		JBrowse link
G LOC126862424 CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:84227912-84229111 IAGP ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar PMID:25741868 NCBI chr16:84,194,306...84,195,505 JBrowse link
G LOC130001446 ATAC-STARR-seq lymphoblastoid active region 28121 IAGP ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar PMID:24934491 PMID:25741868 PMID:28492532 PMID:31479588 NCBI chr 9:893,926...894,245 JBrowse link
G M1AP meiosis 1 associated protein IAGP ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar PMID:25741868 PMID:32673564 NCBI chr 2:74,557,883...74,648,330
Ensembl chr 2:74,557,883...74,648,338 		JBrowse link
G MCM9 minichromosome maintenance 9 homologous recombination repair factor IAGP ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar PMID:25480036 PMID:25741868 PMID:31042289 NCBI chr 6:118,813,455...118,935,159
Ensembl chr 6:118,813,442...118,935,162 		JBrowse link
G MON1B MON1 homolog B, secretory trafficking associated IAGP ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar PMID:25741868 PMID:28492532 PMID:31479588 NCBI chr16:77,191,190...77,202,398
Ensembl chr16:77,190,835...77,202,398 		JBrowse link
G MOV10L1 Mov10 like RNA helicase 1 IAGP ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar PMID:25741868 PMID:35476666 NCBI chr22:50,090,006...50,161,687
Ensembl chr22:50,090,006...50,161,690 		JBrowse link
G MSH4 mutS homolog 4 IAGP ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar PMID:25741868 PMID:33448284 PMID:34755185 NCBI chr 1:75,796,882...75,913,242
Ensembl chr 1:75,796,882...75,913,242 		JBrowse link
G MSH5 mutS homolog 5 IAGP ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar PMID:25741868 PMID:34755185 NCBI chr 6:31,740,005...31,762,676
Ensembl chr 6:31,739,677...31,762,676 		JBrowse link
G MSH5-SAPCD1 MSH5-SAPCD1 readthrough (NMD candidate) IAGP ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar PMID:25741868 PMID:34755185 NCBI chr 6:31,739,948...31,764,850
Ensembl chr 6:31,740,020...31,764,851 		JBrowse link
G NPAS2 neuronal PAS domain protein 2 IAGP ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar PMID:25956372 NCBI chr 2:100,818,723...100,996,829
Ensembl chr 2:100,820,139...100,996,829 		JBrowse link
G NPAS2-AS1 NPAS2 antisense RNA 1 IAGP ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar PMID:25956372 NCBI chr 2:100,972,648...100,977,161 JBrowse link
G NR5A1 nuclear receptor subfamily 5 group A member 1 IAGP ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar PMID:18414213 PMID:20887963 PMID:25741868 PMID:25989977 PMID:28492532 More... NCBI chr 9:124,481,236...124,507,399
Ensembl chr 9:124,481,236...124,507,420 		JBrowse link
G PNLDC1 PARN like ribonuclease domain containing exonuclease 1 IAGP ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar PMID:25741868 NCBI chr 6:159,799,455...159,820,704
Ensembl chr 6:159,800,249...159,820,704 		JBrowse link
G RAD21L1 RAD21 cohesin complex component like 1 IAGP ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar PMID:25741868 NCBI chr20:1,226,044...1,255,876
Ensembl chr20:1,226,044...1,296,421 		JBrowse link
G REC8 REC8 meiotic recombination protein IAGP ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar PMID:25741868 PMID:31479588 NCBI chr14:24,172,080...24,180,923
Ensembl chr14:24,171,853...24,180,257 		JBrowse link
G RNF212 ring finger protein 212 IAGP ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar PMID:25741868 NCBI chr 4:1,056,251...1,113,710
Ensembl chr 4:1,056,250...1,113,564 		JBrowse link
G SLC26A8 solute carrier family 26 member 8 IAGP
EXP		 ClinVar Annotator: match by term: Spermatogenic failure 3
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:23582645 PMID:25741868 PMID:28492532 PMID:34923715 NCBI chr 6:35,943,516...36,024,641
Ensembl chr 6:35,943,516...36,024,868 		JBrowse link
G SPO11 SPO11 initiator of meiotic double strand breaks IAGP ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar PMID:25741868 NCBI chr20:57,329,803...57,343,993
Ensembl chr20:57,329,803...57,343,994 		JBrowse link
G SRSF6 serine and arginine rich splicing factor 6 susceptibility IAGP DNA:snp:intron:g.IVS2+305T>C (rs6103330) (human) RGD PMID:24661730 RGD:11039404 NCBI chr20:43,457,896...43,464,243
Ensembl chr20:43,457,893...43,466,046 		JBrowse link
G STAG3 STAG3 cohesin complex component IAGP ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar PMID:25741868 PMID:31682730 PMID:35176428 NCBI chr 7:100,177,724...100,219,334
Ensembl chr 7:100,177,563...100,214,387 		JBrowse link
G SYCE1L synaptonemal complex central element protein 1 like IAGP ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar PMID:25741868 PMID:28492532 PMID:31479588 NCBI chr16:77,199,408...77,213,215
Ensembl chr16:77,199,408...77,213,215 		JBrowse link
G SYCP2 synaptonemal complex protein 2 IAGP ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar PMID:25741868 PMID:31866047 NCBI chr20:59,863,571...59,933,637
Ensembl chr20:59,863,564...59,933,655 		JBrowse link
G TERB1 telomere repeat binding bouquet formation protein 1 IAGP ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar PMID:25741868 PMID:33211200 NCBI chr16:66,754,640...66,802,025
Ensembl chr16:66,754,640...66,801,620 		JBrowse link
G TERB2 telomere repeat binding bouquet formation protein 2 IAGP ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar PMID:25741868 NCBI chr15:44,956,687...44,979,229
Ensembl chr15:44,956,687...44,979,229 		JBrowse link
G TEX11 testis expressed 11 IAGP ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar PMID:25970010 PMID:28132688 NCBI chr  X:70,511,227...70,908,711
Ensembl chr  X:70,528,940...70,908,711 		JBrowse link
G TEX14 testis expressed 14, intercellular bridge forming factor IAGP ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar PMID:25741868 PMID:28492532 PMID:31479588 NCBI chr17:58,556,678...58,692,045
Ensembl chr17:58,556,678...58,692,055 		JBrowse link
G TEX15 testis expressed 15, meiosis and synapsis associated IAGP ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar PMID:25741868 PMID:28492532 PMID:31479588 NCBI chr 8:30,831,544...30,913,008
Ensembl chr 8:30,831,544...30,913,008 		JBrowse link
G TRIM71 tripartite motif containing 71 IAGP ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar PMID:25741868 NCBI chr 3:32,817,997...32,897,824
Ensembl chr 3:32,817,997...32,897,824 		JBrowse link
G ZMYND15 zinc finger MYND-type containing 15 IAGP ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar PMID:25741868 NCBI chr17:4,739,833...4,746,119
Ensembl chr17:4,739,833...4,746,119 		JBrowse link
G ZSWIM7 zinc finger SWIM-type containing 7 IAGP ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar PMID:25741868 PMID:32719396 PMID:33713115 NCBI chr17:15,976,560...15,999,704
Ensembl chr17:15,976,560...15,999,717 		JBrowse link
spermatogenic failure 30 term browser