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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: NCI:C3836;   OMIM:PS616814
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 chr15:42,833,796...42,882,201
Ensembl chr15:42,833,796...42,882,201
JBrowse link
G Atm ATM serine/threonine kinase IMP DNA:missense mutation:cds:
DNA:deletion:exon:
RGD PMID:27895165 PMID:28007901 RGD:12879393, RGD:12879399 NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437
JBrowse link
G Atmem1Kyo ATM serine/threonine kinase; ZFN induced mutant 1, Kyo IMP RGD PMID:28007901 RGD:12879399
G Atmm1Kyo ATM serine/threonine kinase; ENU induced mutant 1, Kyo IMP RGD PMID:27895165 RGD:12879393
G Brca2 BRCA2, DNA repair associated IMP RGD PMID:12754522 RGD:727990 NCBI chr12:59,492...103,789
Ensembl chr12:59,819...100,567
JBrowse link
G Brca2m1Uwm BRCA2, DNA repair associated; mutation 1, University of Wisconsin-Madison IMP RGD PMID:12754522 RGD:727990
G Catsper2 cation channel, sperm associated 2 ISO ClinVar Annotator: match by term: Infertility ClinVar NCBI chr 3:108,368,654...108,389,380
Ensembl chr 3:108,368,668...108,388,050
JBrowse link
G Ccdc103 coiled-coil domain containing 103 ISO ClinVar Annotator: match by term: Infertility ClinVar PMID:22581229 PMID:23891469 PMID:24033266 PMID:24357714 PMID:25326635 More... NCBI chr10:87,846,327...87,849,959
Ensembl chr10:87,846,357...87,849,757
JBrowse link
G Ccdc39 coiled-coil domain containing 39 ISO ClinVar Annotator: match by term: Infertility ClinVar PMID:16199547 PMID:21131972 PMID:22693295 PMID:23255504 PMID:28492532 NCBI chr 2:116,665,261...116,703,364
Ensembl chr 2:116,665,261...116,703,350
JBrowse link
G Cdkn1b cyclin-dependent kinase inhibitor 1B IMP RGD PMID:30893315 RGD:126908018 NCBI chr 4:167,760,067...167,765,177
Ensembl chr 4:167,760,181...167,764,982
JBrowse link
G Cdkn1bem1Musc cyclin-dependent kinase inhibitor 1B; CRISPR/Cas9 induced mutant 1, Musc IMP RGD PMID:30893315 RGD:126908018
G Cdkn1bem4Musc cyclin-dependent kinase inhibitor 1B; CRISPR/Cas9 induced mutant 4, Musc IMP RGD PMID:30893315 RGD:126908018
G Cftr CF transmembrane conductance regulator ISO ClinVar Annotator: match by term: Infertility ClinVar PMID:1284535 PMID:1379210 PMID:1384326 PMID:1977306 PMID:7508183 More... NCBI chr 4:46,561,269...46,728,759
Ensembl chr 4:46,560,885...46,728,756
JBrowse link
G Csf1r colony stimulating factor 1 receptor IMP RGD PMID:30249809 RGD:41404725 NCBI chr18:54,546,673...54,590,418
Ensembl chr18:54,546,659...54,590,415
JBrowse link
G Csf1rtm(EGFP)Tset colony stimulating factor 1 receptor; target mutant, Tset IMP RGD PMID:30249809 RGD:41404725
G Dicer1 dicer 1 ribonuclease III ISO RGD PMID:25525274 RGD:150340620 NCBI chr 6:123,627,529...123,692,278
Ensembl chr 6:123,631,250...123,693,965
JBrowse link
G Dnaaf11 dynein axonemal assembly factor 11 ISO ClinVar Annotator: match by term: Infertility ClinVar PMID:28492532 NCBI chr 7:98,141,525...98,245,906
Ensembl chr 7:98,144,763...98,245,837
JBrowse link
G Dnah11 dynein, axonemal, heavy chain 11 ISO ClinVar Annotator: match by term: Infertility ClinVar PMID:28492532 NCBI chr 6:138,839,175...139,155,554
Ensembl chr 6:138,839,177...139,155,536
JBrowse link
G Dnah5 dynein, axonemal, heavy chain 5 ISO ClinVar Annotator: match by term: Infertility ClinVar PMID:25741868 PMID:27637300 PMID:28492532 NCBI chr 2:78,937,788...79,255,551
Ensembl chr 2:78,937,800...79,254,890
JBrowse link
G Dnai1 dynein, axonemal, intermediate chain 1 ISO ClinVar Annotator: match by term: Infertility ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:56,730,179...56,800,926
Ensembl chr 5:56,730,179...56,800,925
JBrowse link
G Ehmt2 euchromatic histone lysine methyltransferase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25975992 NCBI chr20:3,919,623...3,936,751
Ensembl chr20:3,919,624...3,941,547
JBrowse link
G Esr1 estrogen receptor 1 IMP RGD PMID:24506075 RGD:8552987 NCBI chr 1:41,106,335...41,499,104
Ensembl chr 1:41,210,475...41,495,002
JBrowse link
G Esr1em1Soar estrogen receptor 1; ZFN induced mutant 1, Soar IMP RGD PMID:24506075 RGD:8552987
G Fanca FA complementation group A ISO associated with Hypogonadism RGD PMID:10915769 RGD:11344895 NCBI chr19:51,304,021...51,362,586
Ensembl chr19:51,304,021...51,362,527
JBrowse link
G Fgfr1 Fibroblast growth factor receptor 1 ISO ClinVar Annotator: match by term: Infertility ClinVar NCBI chr16:66,492,445...66,546,731
Ensembl chr16:66,494,042...66,547,350
JBrowse link
G Gnrhr gonadotropin releasing hormone receptor ISO ClinVar Annotator: match by term: Infertility ClinVar PMID:9371856 PMID:10022417 PMID:10690855 PMID:10999776 PMID:11397842 More... NCBI chr14:21,856,871...21,874,861
Ensembl chr14:21,856,871...21,874,861
JBrowse link
G Kl Klotho ISO CTD Direct Evidence: marker/mechanism CTD PMID:9363890 NCBI chr12:490,402...531,417
Ensembl chr12:490,399...530,080
JBrowse link
G Lepr leptin receptor treatment ISO CTD Direct Evidence: marker/mechanism CTD PMID:15093691 PMID:16284652 RGD:10412018 NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908
JBrowse link
G Nphp4 nephrocystin 4 ISO ClinVar Annotator: match by term: Infertility ClinVar PMID:12244321 PMID:25558065 NCBI chr 5:162,986,157...163,073,708
Ensembl chr 5:162,988,370...163,073,706
JBrowse link
G Polr2c RNA polymerase II subunit C ISO ClinVar Annotator: match by term: Infertility ClinVar NCBI chr19:10,158,153...10,164,935
Ensembl chr19:10,157,823...10,164,945
JBrowse link
G Prokr2 prokineticin receptor 2 ISO ClinVar Annotator: match by term: Infertility ClinVar PMID:16537498 PMID:17054399 PMID:18559922 PMID:18682503 PMID:18723471 More... NCBI chr 3:119,624,738...119,639,442
Ensembl chr 3:119,627,601...119,635,718
JBrowse link
G Ptger2 prostaglandin E receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10359563 NCBI chr15:18,215,013...18,228,714
Ensembl chr15:18,217,285...18,228,714
JBrowse link
G Tac3 tachykinin precursor 3 ISO ClinVar Annotator: match by term: Infertility ClinVar PMID:25636053 NCBI chr 7:63,562,552...63,569,170
Ensembl chr 7:63,562,552...63,569,170
JBrowse link
G Tgfbr3 transforming growth factor beta receptor 3 ISO ClinVar Annotator: match by term: Infertility ClinVar PMID:23265383 NCBI chr14:2,489,397...2,665,383
Ensembl chr14:2,489,397...2,663,341
JBrowse link
G Ttc19 tetratricopeptide repeat domain 19 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21278747 NCBI chr10:46,969,727...46,997,789
Ensembl chr10:46,969,727...46,997,789
JBrowse link
aromatase excess syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp19a1 cytochrome P450, family 19, subfamily a, polypeptide 1 ISO ClinVar Annotator: match by term: Aromatase excess syndrome
ClinVar Annotator: match by term: Aromatase deficiency
ClinVar Annotator: match by OMIM:613546
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:1496995 PMID:1825497 PMID:2973313 PMID:8265607 PMID:8530621 More... NCBI chr 8:54,553,165...54,580,758
Ensembl chr 8:54,553,165...54,580,758
JBrowse link
Asthenozoospermia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bscl2 BSCL2 lipid droplet biogenesis associated, seipin ISO CTD Direct Evidence: marker/mechanism CTD PMID:26181198 NCBI chr 1:205,731,814...205,743,430
Ensembl chr 1:205,733,872...205,743,421
JBrowse link
G Cfap251 cilia and flagella associated protein 251 ISO ClinVar Annotator: match by term: asthenozoospermia ClinVar PMID:30122541 NCBI chr12:33,261,622...33,337,028
Ensembl chr12:33,261,476...33,293,932
JBrowse link
G Gstt1 glutathione S-transferase theta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19303595 NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585
JBrowse link
G Plau plasminogen activator, urokinase IEP
ISO
mRNA, protein:decreased expression:testes, epididymis (rat)
CTD Direct Evidence: marker/mechanism
CTD PMID:18998460 PMID:18998460 RGD:7241809 NCBI chr15:3,456,230...3,462,732
Ensembl chr15:3,456,232...3,462,775
JBrowse link
autosomal recessive congenital bilateral absence of vas deferens term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adgrg2 adhesion G protein-coupled receptor G2 ISO ClinVar Annotator: match by term: Congenital bilateral aplasia of vas deferens from CFTR mutation ClinVar PMID:25741868 PMID:27476656 NCBI chr  X:34,297,402...34,422,590
Ensembl chr  X:34,297,402...34,422,609
JBrowse link
G Cftr CF transmembrane conductance regulator ISO ClinVar Annotator: match by term: Congenital bilateral aplasia of vas deferens from CFTR mutation ClinVar
OMIM
PMID:1283148 PMID:1283149 PMID:1284534 PMID:1284538 PMID:1284540 More... NCBI chr 4:46,561,269...46,728,759
Ensembl chr 4:46,560,885...46,728,756
JBrowse link
azoospermia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alb albumin ISO CTD Direct Evidence: therapeutic CTD PMID:27289041 NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836
JBrowse link
G Aurkc aurora kinase C ISO ClinVar Annotator: match by term: Spermatogenic Failure ClinVar NCBI chr 1:66,843,653...66,864,348
Ensembl chr 1:66,843,653...66,864,386
JBrowse link
G Bcl2 BCL2, apoptosis regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:20610805 NCBI chr13:22,689,783...22,853,920 JBrowse link
G Bcl2l2 Bcl2-like 2 ISO RGD PMID:9770502 RGD:14394611 NCBI chr15:28,346,449...28,361,627
Ensembl chr15:28,356,807...28,361,624
JBrowse link
G Brdt bromodomain testis associated susceptibility ISO protein:decreased expression:testis:
DNA:SNP: :rs3088232(human)
RGD PMID:22035730 PMID:22016351 RGD:9586359, RGD:9586360 NCBI chr14:2,421,094...2,445,842
Ensembl chr14:2,387,796...2,445,842
JBrowse link
G Bscl2 BSCL2 lipid droplet biogenesis associated, seipin IMP RGD PMID:25934999 RGD:11085488 NCBI chr 1:205,731,814...205,743,430
Ensembl chr 1:205,733,872...205,743,421
JBrowse link
G Bscl2m1Kyo BSCL2, seipin lipid droplet biogenesis associated; ENU induced mutant1, Kyo IMP RGD PMID:25934999 RGD:11085488
G Cftr CF transmembrane conductance regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:10856487 NCBI chr 4:46,561,269...46,728,759
Ensembl chr 4:46,560,885...46,728,756
JBrowse link
G Chpt1 choline phosphotransferase 1 ISO ClinVar Annotator: match by term: Spermatogenic Failure ClinVar NCBI chr 7:22,866,455...22,915,111
Ensembl chr 7:22,863,027...22,915,103
JBrowse link
G Epas1 endothelial PAS domain protein 1 ISO RGD PMID:14608355 RGD:734934 NCBI chr 6:7,790,236...7,871,246
Ensembl chr 6:7,790,647...7,871,228
JBrowse link
G Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit susceptibility ISO DNA:snp:3' utr:c.8092C>A (human) RGD PMID:18616887 RGD:13207429 NCBI chr 1:78,971,310...79,007,963
Ensembl chr 1:78,996,390...79,007,963
JBrowse link
G Gopc golgi associated PDZ and coiled-coil motif containing ISS OMIM:102530 | OMIM:108420 | OMIM:243060 | OMIM:258150 | OMIM:270960 | OMIM:309120 | OMIM:415000 | OMIM:606766 | OMIM:612997 | OMIM:613957 | OMIM:613958 | OMIM:614822 | OMIM:615081 | OMIM:615413 | OMIM:615841 | OMIM:615842 MouseDO NCBI chr20:31,727,617...31,776,928
Ensembl chr20:31,727,620...31,776,903
JBrowse link
G Hsd17b10 hydroxysteroid (17-beta) dehydrogenase 10 ISO mRNA:increased expression:testis RGD PMID:9851691 RGD:13792783 NCBI chr  X:21,089,152...21,091,597
Ensembl chr  X:21,089,122...21,109,488
JBrowse link
G Nlrp14 NLR family, pyrin domain containing 14 ISO ClinVar Annotator: match by term: Spermatogenic Failure ClinVar PMID:16931801 PMID:20981092 PMID:22344438 PMID:24033266 PMID:25741868 NCBI chr 1:161,069,141...161,089,158
Ensembl chr 1:161,061,165...161,089,222
JBrowse link
G Sohlh1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 ISO ClinVar Annotator: match by term: Spermatogenic Failure ClinVar PMID:20506135 PMID:28492532 PMID:28718531 NCBI chr 3:8,662,995...8,667,521
Ensembl chr 3:8,663,318...8,667,388
JBrowse link
G Spata16 spermatogenesis associated 16 ISO ClinVar Annotator: match by term: Spermatogenic Failure ClinVar NCBI chr 2:109,485,287...109,865,665
Ensembl chr 2:109,485,274...109,865,659
JBrowse link
G Sycp3 synaptonemal complex protein 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Spermatogenic Failure
CTD
ClinVar
PMID:14643120 NCBI chr 7:22,874,055...22,888,512
Ensembl chr 7:22,874,055...22,888,511
JBrowse link
AZOOSPERMIA, OBSTRUCTIVE, WITH NEPHROLITHIASIS term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cldn2 claudin 2 ISO ClinVar Annotator: match by term: AZOOSPERMIA, OBSTRUCTIVE, WITH NEPHROLITHIASIS ClinVar
OMIM
PMID:31320686 NCBI chr  X:103,459,870...103,473,794
Ensembl chr  X:103,459,780...103,474,838
JBrowse link
congenital bilateral absence of vas deferens term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adgrg2 adhesion G protein-coupled receptor G2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr  X:34,297,402...34,422,590
Ensembl chr  X:34,297,402...34,422,609
JBrowse link
G Cftr CF transmembrane conductance regulator ISO
IMP
CTD Direct Evidence: marker/mechanism
associated with Cystic Fibrosis
DNA:deletion, missense mutations: :multiple
DNA:deletion, nonsense mutations, missense mutations: :multiple
CTD PMID:10875853 PMID:11119745 PMID:24608905 PMID:10653141 PMID:11119745 RGD:11566051, RGD:11566040, RGD:11566027 NCBI chr 4:46,561,269...46,728,759
Ensembl chr 4:46,560,885...46,728,756
JBrowse link
CRYPTOZOOSPERMIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G M1ap meiosis 1 associated protein ISO ClinVar Annotator: match by term: Cryptozoospermia ClinVar PMID:25741868 PMID:32673564 NCBI chr 4:115,445,910...115,536,745
Ensembl chr 4:115,455,397...115,536,487
JBrowse link
G Sycp2 synaptonemal complex protein 2 ISO ClinVar Annotator: match by term: Cryptozoospermia ClinVar PMID:25741868 PMID:31866047 NCBI chr 3:165,431,715...165,502,134
Ensembl chr 3:165,436,331...165,498,789
JBrowse link
G Trim71 tripartite motif containing 71 ISO ClinVar Annotator: match by term: Cryptozoospermia ClinVar PMID:25741868 NCBI chr 8:114,193,439...114,250,807
Ensembl chr 8:114,199,187...114,250,807
JBrowse link
Female Infertility term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adipor1 adiponectin receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22265003 NCBI chr13:45,859,461...45,879,248
Ensembl chr13:45,859,533...45,879,241
JBrowse link
G Adipor2 adiponectin receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22265003 NCBI chr 4:152,524,604...152,588,848
Ensembl chr 4:152,524,623...152,559,355
JBrowse link
G Afp alpha-fetoprotein ISO RGD PMID:12297623 RGD:1300268 NCBI chr14:17,573,412...17,591,476
Ensembl chr14:17,573,412...17,591,480
JBrowse link
G Ar androgen receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:23710174 NCBI chr  X:63,104,771...63,273,934
Ensembl chr  X:63,104,771...63,273,925
JBrowse link
G Arntl aryl hydrocarbon receptor nuclear translocator-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:20200203 NCBI chr 1:167,331,756...167,430,235
Ensembl chr 1:167,331,633...167,430,231
JBrowse link
G Bsg basigin (Ok blood group) ISO RGD PMID:9559645 RGD:734663 NCBI chr 7:9,993,170...10,000,387
Ensembl chr 7:9,993,170...10,000,387
JBrowse link
G Cacna2d2 calcium voltage-gated channel auxiliary subunit alpha2delta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14660671 NCBI chr 8:108,072,208...108,203,516
Ensembl chr 8:108,072,454...108,203,173
JBrowse link
G Ccn2 cellular communication network factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21868453 NCBI chr 1:20,802,199...20,805,315
Ensembl chr 1:20,802,199...20,805,734
JBrowse link
G Cd9 CD9 molecule ISO RGD PMID:10634790 RGD:734730 NCBI chr 4:158,256,328...158,289,136
Ensembl chr 4:158,256,328...158,289,222
JBrowse link
G Cebpa CCAAT/enhancer binding protein alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:21177758 NCBI chr 1:87,759,631...87,762,303
Ensembl chr 1:87,759,433...87,762,412
JBrowse link
G Cebpb CCAAT/enhancer binding protein beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:21177758 NCBI chr 3:156,398,035...156,399,466
Ensembl chr 3:156,397,052...156,399,473
JBrowse link
G Cyp17a1 cytochrome P450, family 17, subfamily a, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18645707 NCBI chr 1:245,535,462...245,543,148
Ensembl chr 1:245,535,462...245,541,573
JBrowse link
G Cyp19a1 cytochrome P450, family 19, subfamily a, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14684609 NCBI chr 8:54,553,165...54,580,758
Ensembl chr 8:54,553,165...54,580,758
JBrowse link
G Dhfr dihydrofolate reductase ISO CTD Direct Evidence: therapeutic CTD PMID:17519396 NCBI chr 2:23,585,876...23,611,199
Ensembl chr 2:23,586,031...23,613,713
JBrowse link
G Esr1 estrogen receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23710174 NCBI chr 1:41,106,335...41,499,104
Ensembl chr 1:41,210,475...41,495,002
JBrowse link
G Esr2 estrogen receptor 2 ISO
IMP
CTD Direct Evidence: marker/mechanism CTD PMID:23710174 PMID:28520870 RGD:38548924 NCBI chr 6:94,858,438...94,909,630
Ensembl chr 6:94,809,547...94,908,919
JBrowse link
G Esr2em1Soar estrogen receptor 2; ZFN induced mutant 1, Soar IMP RGD PMID:28520870 RGD:38548924
G Fancc FA complementation group C ISO RGD PMID:8704201 RGD:1300317 NCBI chr17:1,680,660...1,822,610
Ensembl chr17:1,681,324...1,829,376
JBrowse link
G Fshb follicle stimulating hormone subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:8220432 NCBI chr 3:93,548,560...93,552,370
Ensembl chr 3:93,548,560...93,552,370
JBrowse link
G Gstm1 glutathione S-transferase mu 1 ISO DNA:deletion:: (human) RGD PMID:25010410 RGD:11556525 NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
JBrowse link
G Hsp90ab1 heat shock protein 90 alpha family class B member 1 ISO RGD PMID:19022436 RGD:10445839 NCBI chr 9:15,432,986...15,438,358
Ensembl chr 9:15,433,691...15,438,488
JBrowse link
G Hspa5 heat shock protein family A (Hsp70) member 5 ISO RGD PMID:22143970 RGD:5685640 NCBI chr 3:18,055,507...18,059,969
Ensembl chr 3:18,055,405...18,059,891
JBrowse link
G Htra2 HtrA serine peptidase 2 ISO RGD PMID:22976834 RGD:10402865 NCBI chr 4:115,556,914...115,560,202
Ensembl chr 4:115,556,916...115,560,095
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 2:46,520,345...46,621,487
Ensembl chr 2:46,523,948...46,621,481
JBrowse link
G Lefty2 Left-right determination factor 2 ISO RGD PMID:10902804 RGD:1598793 NCBI chr13:92,610,185...92,620,918
Ensembl chr13:92,615,360...92,619,880
JBrowse link
G Lep leptin ISO CTD Direct Evidence: marker/mechanism CTD PMID:22265003 NCBI chr 4:57,661,127...57,675,262
Ensembl chr 4:57,661,131...57,675,262
JBrowse link
G Lepr leptin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:22265003 NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908
JBrowse link
G Lhb luteinizing hormone subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:9457942 NCBI chr 1:95,898,269...95,901,973
Ensembl chr 1:95,900,984...95,901,972
Ensembl chr 1:95,900,984...95,901,972
JBrowse link
G Lif LIF, interleukin 6 family cytokine ISO CTD Direct Evidence: marker/mechanism CTD PMID:23407384 NCBI chr14:79,131,049...79,140,486
Ensembl chr14:79,134,574...79,140,482
JBrowse link
G Mapk1 mitogen activated protein kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21177758 NCBI chr11:83,957,813...84,023,629
Ensembl chr11:83,957,813...84,023,616
JBrowse link
G Mapk3 mitogen activated protein kinase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21177758 NCBI chr 1:181,366,646...181,372,863
Ensembl chr 1:181,366,637...181,372,863
JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16679164 NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
JBrowse link
G Nasp nuclear autoantigenic sperm protein ISO RGD PMID:19219058 RGD:9590110 NCBI chr 5:130,057,363...130,083,003
Ensembl chr 5:130,057,363...130,082,928
JBrowse link
G Nr1i2 nuclear receptor subfamily 1, group I, member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23710174 NCBI chr11:62,460,213...62,496,665
Ensembl chr11:62,460,213...62,496,658
JBrowse link
G Nr2f2 nuclear receptor subfamily 2, group F, member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17590085 NCBI chr 1:124,008,282...124,022,521
Ensembl chr 1:124,009,181...124,022,031
JBrowse link
G Nr5a2 nuclear receptor subfamily 5, group A, member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17409375 NCBI chr13:48,313,634...48,433,494
Ensembl chr13:48,316,301...48,433,326
JBrowse link
G Pappa1 pappalysin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20130263 NCBI chr 5:78,497,660...78,735,873
Ensembl chr 5:78,498,300...78,730,666
JBrowse link
G Prl prolactin ISO CTD Direct Evidence: marker/mechanism CTD PMID:19531635 NCBI chr17:37,859,999...37,870,062
Ensembl chr17:37,860,007...37,870,062
JBrowse link
G Proc protein C, inactivator of coagulation factors Va and VIIIa ISO RGD PMID:24189967 RGD:11099991 NCBI chr18:23,764,367...23,774,816
Ensembl chr18:23,764,368...23,775,133
JBrowse link
G Smo smoothened, frizzled class receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:28560483 NCBI chr 4:58,344,101...58,372,828
Ensembl chr 4:58,343,529...58,373,829
JBrowse link
G Stag3 stromal antigen 3 ISO ClinVar Annotator: match by term: Female infertility ClinVar PMID:25741868 NCBI chr12:17,284,677...17,314,936
Ensembl chr12:17,284,794...17,314,935
JBrowse link
G Tp53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22532853 NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
JBrowse link
G Tsc2 TSC complex subunit 2 ISO RGD PMID:25189766 RGD:11568667 NCBI chr10:13,621,135...13,655,773
Ensembl chr10:13,621,136...13,655,951
JBrowse link
Globozoospermia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Spata16 spermatogenesis associated 16 ISO ClinVar Annotator: match by term: Globozoospermia ClinVar PMID:17847006 PMID:24265589 PMID:28492532 PMID:29065458 NCBI chr 2:109,485,287...109,865,665
Ensembl chr 2:109,485,274...109,865,659
JBrowse link
hypogonadotropic hypogonadism 24 without anosmia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fshb follicle stimulating hormone subunit beta ISO ClinVar Annotator: match by term: isolated follicle-stimulating hormone deficiency
ClinVar Annotator: match by term: Follicle-stimulating hormone deficiency, isolated
ClinVar Annotator: match by OMIM:229070
OMIM
ClinVar
PMID:4344039 PMID:8220432 PMID:9271483 PMID:9280841 PMID:9624193 More... NCBI chr 3:93,548,560...93,552,370
Ensembl chr 3:93,548,560...93,552,370
JBrowse link
male infertility term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace angiotensin I converting enzyme ISO CTD Direct Evidence: marker/mechanism CTD PMID:8642790 PMID:12075344 NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
JBrowse link
G Actl7a actin-like 7a ISO RGD PMID:26957350 RGD:13831339 NCBI chr 5:71,447,447...71,450,440
Ensembl chr 5:71,447,071...71,450,908
JBrowse link
G Adamts16 ADAM metallopeptidase with thrombospondin type 1 motif, 16 IMP RGD PMID:24983376 PMID:32037220 RGD:13434925, RGD:38548917 NCBI chr 1:32,430,436...32,562,481
Ensembl chr 1:32,430,436...32,560,494
JBrowse link
G Adamts16em1Bj ADAM metallopeptidase with thrombospondin type 1 motif, 16; ZFN mutant1,Bj IMP RGD PMID:24983376 PMID:32037220 RGD:13434925, RGD:38548917
G Adcy10 adenylate cyclase 10 ISO ClinVar Annotator: match by term: Male infertility ClinVar NCBI chr13:77,747,752...77,833,952
Ensembl chr13:77,768,468...77,833,951
JBrowse link
G Agfg1 ArfGAP with FG repeats 1 ISS MouseDO NCBI chr 9:84,124,878...84,178,149
Ensembl chr 9:84,125,120...84,178,128
JBrowse link
G Ahr aryl hydrocarbon receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21613234 NCBI chr 6:52,234,089...52,271,568
Ensembl chr 6:52,234,089...52,271,568
JBrowse link
G Akap4 A-kinase anchoring protein 4 ISO RGD PMID:12167408 RGD:632500 NCBI chr  X:15,435,391...15,445,684
Ensembl chr  X:15,435,410...15,445,684
JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member ISO CTD Direct Evidence: marker/mechanism CTD PMID:24448831 NCBI chr12:34,949,549...34,982,527 JBrowse link
G Ar androgen receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:12220434 PMID:18554162 PMID:20164437 NCBI chr  X:63,104,771...63,273,934
Ensembl chr  X:63,104,771...63,273,925
JBrowse link
G Arl2bp ADP-ribosylation factor like GTPase 2 binding protein ISS MouseDO NCBI chr19:10,336,921...10,346,555
Ensembl chr19:10,336,921...10,346,564
JBrowse link
G Armc2 armadillo repeat containing 2 ISS MouseDO NCBI chr20:45,395,859...45,501,808
Ensembl chr20:45,394,127...45,504,819
JBrowse link
G Aurkc aurora kinase C ISO CTD Direct Evidence: marker/mechanism CTD PMID:17435757 NCBI chr 1:66,843,653...66,864,348
Ensembl chr 1:66,843,653...66,864,386
JBrowse link
G Bax BCL2 associated X, apoptosis regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:24723216 PMID:7569956 RGD:734632 NCBI chr 1:95,940,001...95,945,407
Ensembl chr 1:95,938,808...95,945,368
JBrowse link
G Bcl2 BCL2, apoptosis regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:24723216 NCBI chr13:22,689,783...22,853,920 JBrowse link
G Brwd1 bromodomain and WD repeat domain containing 1 ISO ClinVar Annotator: match by term: Male infertility ClinVar NCBI chr11:35,286,364...35,378,768
Ensembl chr11:35,288,313...35,378,768
JBrowse link
G Bscl2 BSCL2 lipid droplet biogenesis associated, seipin ISS MouseDO NCBI chr 1:205,731,814...205,743,430
Ensembl chr 1:205,733,872...205,743,421
JBrowse link
G Cabyr calcium binding tyrosine phosphorylation regulated ISS MouseDO NCBI chr18:3,892,062...3,904,391
Ensembl chr18:3,892,132...3,903,840
JBrowse link
G Camk4 calcium/calmodulin-dependent protein kinase IV ISO RGD PMID:10932193 RGD:734683 NCBI chr18:24,582,988...24,811,918
Ensembl chr18:24,585,269...24,802,487
JBrowse link
G Capza3 capping actin protein of muscle Z-line subunit alpha 3 ISO mRNA:decreased expression:semen
DNA:missense mutation: :p.M44K (human)
RGD PMID:27114798 PMID:19341723 RGD:18899565, RGD:19165126 NCBI chr 4:172,929,273...172,930,486
Ensembl chr 4:172,928,887...172,932,535
JBrowse link
G Catsper1 cation channel, sperm associated 1 ISO ClinVar Annotator: match by term: Male infertility ClinVar NCBI chr 1:202,643,009...202,652,059
Ensembl chr 1:202,643,038...202,651,824
JBrowse link
G Catsper2 cation channel, sperm associated 2 ISO ClinVar Annotator: match by term: Male infertility ClinVar NCBI chr 3:108,368,654...108,389,380
Ensembl chr 3:108,368,668...108,388,050
JBrowse link
G Cbl Cbl proto-oncogene ISO CTD Direct Evidence: marker/mechanism CTD PMID:16301331 NCBI chr 8:44,487,824...44,571,620
Ensembl chr 8:44,489,410...44,571,176
JBrowse link
G Ccdc40 coiled-coil domain containing 40 ISO ClinVar Annotator: match by term: Male infertility ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr10:104,486,748...104,527,284
Ensembl chr10:104,486,748...104,527,243
JBrowse link
G Cdc14a cell division cycle 14A ISO CTD Direct Evidence: marker/mechanism CTD PMID:29293958 NCBI chr 2:204,225,540...204,380,927
Ensembl chr 2:204,225,540...204,380,927
JBrowse link
G Cfap47 cilia and flagella associated protein 47 ISS MouseDO NCBI chr  X:43,264,687...43,616,607
Ensembl chr  X:43,263,490...43,616,852
JBrowse link
G Cftr CF transmembrane conductance regulator ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Male infertility
CTD
ClinVar
PMID:7739684 PMID:9804160 PMID:11547256 PMID:11883825 PMID:12124706 More... NCBI chr 4:46,561,269...46,728,759
Ensembl chr 4:46,560,885...46,728,756
JBrowse link
G Chpt1 choline phosphotransferase 1 ISO ClinVar Annotator: match by term: Male infertility ClinVar NCBI chr 7:22,866,455...22,915,111
Ensembl chr 7:22,863,027...22,915,103
JBrowse link
G Cldn2 claudin 2 ISO ClinVar Annotator: match by term: Male infertility ClinVar PMID:31320686 NCBI chr  X:103,459,870...103,473,794
Ensembl chr  X:103,459,780...103,474,838
JBrowse link
G Cnot7 CCR4-NOT transcription complex, subunit 7 IEP mRNA:increased expression:testis RGD PMID:22785219 RGD:10755341 NCBI chr16:51,775,416...51,794,581
Ensembl chr16:51,775,412...51,794,576
JBrowse link
G Csnk2a2 casein kinase 2 alpha 2 ISS MouseDO NCBI chr19:9,556,443...9,596,080
Ensembl chr19:9,556,260...9,596,080
JBrowse link
G Cst8 cystatin 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20811015 NCBI chr 3:136,244,586...136,255,412
Ensembl chr 3:136,244,636...136,251,273
JBrowse link
G Cyp17a1 cytochrome P450, family 17, subfamily a, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15890676 NCBI chr 1:245,535,462...245,543,148
Ensembl chr 1:245,535,462...245,541,573
JBrowse link
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19303595 NCBI chr 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125
JBrowse link
G Dnaaf4 dynein axonemal assembly factor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23872636 NCBI chr 8:73,696,394...73,711,315
Ensembl chr 8:73,698,103...73,711,292
JBrowse link
G Dnah10 dynein, axonemal, heavy chain 10 ISO ClinVar Annotator: match by term: Male infertility ClinVar NCBI chr12:31,823,451...31,946,857 JBrowse link
G Dnah11 dynein, axonemal, heavy chain 11 ISO ClinVar Annotator: match by term: Male infertility ClinVar PMID:22184204 PMID:25741868 PMID:28492532 NCBI chr 6:138,839,175...139,155,554
Ensembl chr 6:138,839,177...139,155,536
JBrowse link
G Dnah5 dynein, axonemal, heavy chain 5 ISO ClinVar Annotator: match by term: Male infertility ClinVar PMID:28492532 NCBI chr 2:78,937,788...79,255,551
Ensembl chr 2:78,937,800...79,254,890
JBrowse link
G Dnai1 dynein, axonemal, intermediate chain 1 ISO ClinVar Annotator: match by term: Male infertility ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:56,730,179...56,800,926
Ensembl chr 5:56,730,179...56,800,925
JBrowse link
G Drosha drosha ribonuclease III ISO CTD Direct Evidence: marker/mechanism CTD PMID:22381205 NCBI chr 2:61,864,886...61,976,688
Ensembl chr 2:61,864,970...61,976,688
JBrowse link
G Elovl2 ELOVL fatty acid elongase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21106902 NCBI chr17:23,544,520...23,584,855
Ensembl chr17:23,544,568...23,584,848
JBrowse link
G Eno1 enolase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27460355 NCBI chr 5:160,719,951...160,731,337
Ensembl chr 5:160,719,951...160,731,336
JBrowse link
G Eno4 enolase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23446454 NCBI chr 1:258,096,406...258,119,811
Ensembl chr 1:258,096,432...258,128,984
JBrowse link
G Esr1 estrogen receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20833731 PMID:23213263 NCBI chr 1:41,106,335...41,499,104
Ensembl chr 1:41,210,475...41,495,002
JBrowse link
G Fas Fas cell surface death receptor IEP protein:increased expression:testis (rat) RGD PMID:23441449 RGD:8663476 NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
JBrowse link
G Fkbp6 FKBP prolyl isomerase family member 6 ISO
IAGP
DNA:deletion:exon (rat) RGD PMID:12764197 PMID:12764197 RGD:1582485, RGD:1582485 NCBI chr12:21,318,251...21,390,350
Ensembl chr12:21,319,568...21,390,350
JBrowse link
G Foxk2 forkhead box K2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:32522586 NCBI chr10:106,542,643...106,592,569
Ensembl chr10:106,542,566...106,592,563
JBrowse link
G Fshb follicle stimulating hormone subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:387166 NCBI chr 3:93,548,560...93,552,370
Ensembl chr 3:93,548,560...93,552,370
JBrowse link
G Galntl5 polypeptide N-acetylgalactosaminyltransferase-like 5 ISO ClinVar Annotator: match by term: Male infertility ClinVar NCBI chr 4:9,873,426...9,923,297
Ensembl chr 4:9,873,428...9,923,136
JBrowse link
G Gnat3 G protein subunit alpha transducin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23818598 NCBI chr 4:17,162,500...17,212,283
Ensembl chr 4:17,162,490...17,212,283
JBrowse link
G Gnrh1 gonadotropin releasing hormone 1 ISO CTD Direct Evidence: therapeutic CTD PMID:20063086 NCBI chr15:41,972,482...41,976,690
Ensembl chr15:41,972,905...41,973,581
Ensembl chr15:41,972,905...41,973,581
JBrowse link
G Gpx4 glutathione peroxidase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19417079 PMID:19744930 NCBI chr 7:9,650,186...9,652,982
Ensembl chr 7:9,650,185...9,652,982
JBrowse link
G Hoxd11 homeobox D11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:7925020 NCBI chr 3:59,584,840...59,587,257 JBrowse link
G Kit KIT proto-oncogene receptor tyrosine kinase IAGP RGD PMID:12932303 RGD:1600050 NCBI chr14:32,547,459...32,624,694
Ensembl chr14:32,548,877...32,624,652
JBrowse link
G Klk14 kallikrein related-peptidase 14 ISO ClinVar Annotator: match by term: Male infertility ClinVar NCBI chr 1:94,123,131...94,137,239
Ensembl chr 1:94,131,998...94,137,240
JBrowse link
G Klk4 kallikrein-related peptidase 4 ISO ClinVar Annotator: match by term: Male infertility ClinVar NCBI chr 1:94,344,608...94,348,979
Ensembl chr 1:94,344,195...94,349,424
JBrowse link
G Kmt2d lysine methyltransferase 2D ISO CTD Direct Evidence: marker/mechanism CTD PMID:19348672 NCBI chr 7:129,980,744...130,022,088
Ensembl chr 7:129,962,887...130,020,325
JBrowse link
G Ldhc lactate dehydrogenase C ISO CTD Direct Evidence: marker/mechanism CTD PMID:21565994 PMID:23486916 NCBI chr 1:97,385,984...97,403,382
Ensembl chr 1:97,382,379...97,403,378
JBrowse link
G Lhb luteinizing hormone subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:387166 PMID:10739843 PMID:15602022 NCBI chr 1:95,898,269...95,901,973
Ensembl chr 1:95,900,984...95,901,972
Ensembl chr 1:95,900,984...95,901,972
JBrowse link
G Lhcgr luteinizing hormone/choriogonadotropin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20164437 NCBI chr 6:5,661,871...5,728,109
Ensembl chr 6:5,661,871...5,724,521
JBrowse link
G Mdm2 MDM2 proto-oncogene ISO CTD Direct Evidence: marker/mechanism CTD PMID:22773013 NCBI chr 7:53,290,660...53,315,205
Ensembl chr 7:53,290,664...53,314,915
JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility ISO CTD Direct Evidence: marker/mechanism
:DNA:polymorphism: :677C>T(human)
CTD PMID:16861746 PMID:16247718 RGD:11565106 NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
JBrowse link
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16861746 NCBI chr17:58,219,998...58,308,560
Ensembl chr17:58,220,071...58,304,822
JBrowse link
G Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16861746 NCBI chr 1:34,866,991...34,899,425
Ensembl chr 1:34,867,089...34,899,425
JBrowse link
G Myo6 myosin VI ISO ClinVar Annotator: match by term: Male infertility ClinVar PMID:24033266 PMID:25741868 PMID:30311386 NCBI chr 8:81,087,157...81,242,022
Ensembl chr 8:81,087,139...81,239,292
JBrowse link
G Nanos2 nanos C2HC-type zinc finger 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22190708 NCBI chr 1:78,635,668...78,637,128
Ensembl chr 1:78,635,668...78,637,128
JBrowse link
G Nos3 nitric oxide synthase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25517965 NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
JBrowse link
G Nr1h4 nuclear receptor subfamily 1, group H, member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30245210 NCBI chr 7:23,846,122...23,942,085
Ensembl chr 7:23,846,122...23,942,047
JBrowse link
G Nr5a1 nuclear receptor subfamily 5, group A, member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20887963 NCBI chr 3:22,464,786...22,486,328
Ensembl chr 3:22,465,502...22,486,328
JBrowse link
G Nsun7 NOP2/Sun RNA methyltransferase family member 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17442852 NCBI chr14:41,877,500...41,935,238
Ensembl chr14:41,879,293...41,934,949
JBrowse link
G Odad2 outer dynein arm docking complex subunit 2 ISO ClinVar Annotator: match by term: Male infertility ClinVar NCBI chr17:55,216,877...55,409,872
Ensembl chr17:55,218,991...55,409,399
JBrowse link
G Ogg1 8-oxoguanine DNA glycosylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23376476 NCBI chr 4:146,474,701...146,481,959
Ensembl chr 4:146,474,750...146,484,766
JBrowse link
G Pmfbp1 polyamine modulated factor 1 binding protein 1 ISS MouseDO NCBI chr19:37,443,432...37,507,880
Ensembl chr19:37,458,108...37,507,879
JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:17923349 NCBI chr 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567
JBrowse link
G Pon1 paraoxonase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21561808 PMID:22206979 NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360
JBrowse link
G Rad23b RAD23 homolog B, nucleotide excision repair protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:11809813 NCBI chr 5:70,090,232...70,128,340
Ensembl chr 5:70,090,232...70,128,319
JBrowse link
G Ranbp2 RAN binding protein 2 ISO RGD PMID:21310149 RGD:9835350 NCBI chr20:26,442,156...26,493,481
Ensembl chr20:26,442,217...26,493,481
JBrowse link
G Rnf114 ring finger protein 114 ISO mRNA:decreased expression:testes (human) RGD PMID:12621547 RGD:1303956 NCBI chr 3:156,222,487...156,234,263
Ensembl chr 3:156,222,498...156,234,256
JBrowse link
G Rpgr retinitis pigmentosa GTPase regulator ISO RGD PMID:18579752 RGD:8553213 NCBI chr  X:12,566,447...12,628,171
Ensembl chr  X:12,566,645...12,747,882
JBrowse link
G Selenop selenoprotein P ISO CTD Direct Evidence: marker/mechanism CTD PMID:17961124 NCBI chr 2:52,498,123...52,508,409
Ensembl chr 2:52,498,339...52,508,852
JBrowse link
G Smad1 SMAD family member 1 IEP protein:decreased expression:spermatogonia, spermatocytes, spermatids RGD PMID:15704675 RGD:1643234 NCBI chr19:28,513,130...28,573,665
Ensembl chr19:28,513,131...28,573,651
JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22206979 NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
JBrowse link
G Sox30 SRY-box transcription factor 30 ISO ClinVar Annotator: match by term: Male infertility ClinVar NCBI chr10:30,417,499...30,446,441
Ensembl chr10:30,418,473...30,446,453
JBrowse link
G Spata16 spermatogenesis associated 16 ISS MouseDO NCBI chr 2:109,485,287...109,865,665
Ensembl chr 2:109,485,274...109,865,659
JBrowse link
G Stx2 syntaxin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18277055 NCBI chr12:27,678,744...27,714,751
Ensembl chr12:27,689,819...27,714,751
JBrowse link
G Sycp3 synaptonemal complex protein 3 ISO ClinVar Annotator: match by term: Male infertility ClinVar NCBI chr 7:22,874,055...22,888,512
Ensembl chr 7:22,874,055...22,888,511
JBrowse link
G Tas1r3 taste 1 receptor member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23818598 NCBI chr 5:166,469,589...166,472,742
Ensembl chr 5:166,469,589...166,472,742
JBrowse link
G Tcte1 t-complex-associated testis expressed 1 ISS MouseDO NCBI chr 9:15,463,573...15,482,258
Ensembl chr 9:15,463,739...15,472,954
JBrowse link
G Tdrd7 tudor domain containing 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21436445 NCBI chr 5:60,238,742...60,312,548
Ensembl chr 5:60,238,678...60,312,544
JBrowse link
G Tp53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22773013 NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
JBrowse link
G Tsc22d3 TSC22 domain family, member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22556341 NCBI chr  X:104,217,898...104,277,935
Ensembl chr  X:104,217,925...104,276,861
JBrowse link
G Txndc8 thioredoxin domain containing 8 ISO protein:increased expression:sperm (human) RGD PMID:15181017 RGD:1303999 NCBI chr 5:72,749,725...72,785,858
Ensembl chr 5:72,749,725...72,785,931
JBrowse link
G Xrcc1 X-ray repair cross complementing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30998386 NCBI chr 1:80,140,495...80,168,705
Ensembl chr 1:80,141,207...80,168,701
JBrowse link
G Zmynd15 zinc finger, MYND-type containing 15 ISO ClinVar Annotator: match by term: Male infertility ClinVar NCBI chr10:55,171,198...55,177,812
Ensembl chr10:55,171,198...55,177,812
JBrowse link
Morbid Obesity and Spermatogenic Failure term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cep19 centrosomal protein 19 ISO ClinVar Annotator: match by term: Morbid obesity and spermatogenic failure OMIM
ClinVar
PMID:24268657 PMID:28492532 NCBI chr11:68,677,869...68,687,117
Ensembl chr11:68,677,871...68,687,022
JBrowse link
oligoasthenoteratozoospermia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cfap58 cilia and flagella associated protein 58 ISS MouseDO NCBI chr 1:246,802,681...246,911,363
Ensembl chr 1:246,802,665...246,911,374
JBrowse link
G Spata20 spermatogenesis associated 20 ISS MouseDO NCBI chr10:79,427,525...79,435,472
Ensembl chr10:79,427,528...79,434,368
JBrowse link
oligospermia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bckdk branched chain ketoacid dehydrogenase kinase IAGP DNA:missense mutation:cds:G369E (rat) RGD PMID:27472223 RGD:39131293 NCBI chr 1:182,515,335...182,520,007
Ensembl chr 1:182,515,327...182,536,633
JBrowse link
G Brdt bromodomain testis associated susceptibility ISO DNA:SNP: :rs3088232(human) RGD PMID:22016351 RGD:9586360 NCBI chr14:2,421,094...2,445,842
Ensembl chr14:2,387,796...2,445,842
JBrowse link
G Brwd1 bromodomain and WD repeat domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18353305 NCBI chr11:35,286,364...35,378,768
Ensembl chr11:35,288,313...35,378,768
JBrowse link
G Bscl2 BSCL2 lipid droplet biogenesis associated, seipin ISO CTD Direct Evidence: marker/mechanism CTD PMID:26181198 NCBI chr 1:205,731,814...205,743,430
Ensembl chr 1:205,733,872...205,743,421
JBrowse link
G Cdc14a cell division cycle 14A ISO CTD Direct Evidence: marker/mechanism CTD PMID:29293958 NCBI chr 2:204,225,540...204,380,927
Ensembl chr 2:204,225,540...204,380,927
JBrowse link
G Cga glycoprotein hormones, alpha polypeptide ISO CTD Direct Evidence: therapeutic CTD PMID:16483355 NCBI chr 5:49,486,915...49,499,192
Ensembl chr 5:49,487,068...49,499,191
JBrowse link
G Dicer1 dicer 1 ribonuclease III ISO CTD Direct Evidence: marker/mechanism CTD PMID:22381205 NCBI chr 6:123,627,529...123,692,278
Ensembl chr 6:123,631,250...123,693,965
JBrowse link
G Esr1 estrogen receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20833731 NCBI chr 1:41,106,335...41,499,104
Ensembl chr 1:41,210,475...41,495,002
JBrowse link
G Fshb follicle stimulating hormone subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:4607150 NCBI chr 3:93,548,560...93,552,370
Ensembl chr 3:93,548,560...93,552,370
JBrowse link
G Kif3b kinesin family member 3B ISO ClinVar Annotator: match by term: Oligospermia ClinVar NCBI chr 3:141,758,466...141,798,012
Ensembl chr 3:141,758,466...141,797,963
JBrowse link
G Msh4 mutS homolog 4 ISO ClinVar Annotator: match by term: Oligospermia ClinVar PMID:25741868 PMID:33448284 NCBI chr 2:242,785,392...242,844,609
Ensembl chr 2:242,792,661...242,843,487
JBrowse link
G Nos3 nitric oxide synthase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29983398 NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
JBrowse link
G Nr0b1 nuclear receptor subfamily 0, group B, member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23384712 NCBI chr  X:50,756,886...50,761,014
Ensembl chr  X:50,756,886...50,761,011
JBrowse link
G Piwil4 piwi-like RNA-mediated gene silencing 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20940137 NCBI chr 8:11,536,520...11,579,883
Ensembl chr 8:11,536,520...11,579,761
JBrowse link
G Tbc1d25 TBC1 domain family, member 25 ISO ClinVar Annotator: match by term: Oligospermia ClinVar NCBI chr  X:14,314,095...14,339,171
Ensembl chr  X:14,314,414...14,338,275
JBrowse link
G Tpcn1 two pore segment channel 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24451262 NCBI chr12:35,972,813...36,029,632
Ensembl chr12:35,972,846...36,029,626
JBrowse link
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 ISO ClinVar Annotator: match by term: Oocyte maturation defect 1 ClinVar NCBI chr 3:152,692,825...152,725,997
Ensembl chr 3:152,693,700...152,725,997
JBrowse link
G Zp1 zona pellucida glycoprotein 1 ISO ClinVar Annotator: match by term: Oocyte maturation defect 1
ClinVar Annotator: match by OMIM:615774
OMIM
ClinVar
PMID:24670168 PMID:30810869 NCBI chr 1:207,560,881...207,567,261
Ensembl chr 1:207,560,881...207,567,261
JBrowse link
Oocyte Maturation Defect 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rec114 REC114 meiotic recombination protein ISO ClinVar Annotator: match by term: OOCYTE MATURATION DEFECT 10 OMIM
ClinVar
PMID:31704776 NCBI chr 8:59,063,352...59,221,439
Ensembl chr 8:59,063,352...59,149,887
JBrowse link
Oocyte Maturation Defect 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Patl2 PAT1 homolog 2 ISO ClinVar Annotator: match by term: Oocyte maturation defect 2 ClinVar PMID:24033266 PMID:25741868 PMID:28965844 PMID:29661911 PMID:32552793 NCBI chr 3:109,072,958...109,087,425
Ensembl chr 3:109,075,290...109,083,253
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 ISO ClinVar Annotator: match by term: OOCYTE MATURATION DEFECT 3 ClinVar PMID:25741868 NCBI chr 1:207,560,881...207,567,261
Ensembl chr 1:207,560,881...207,567,261
JBrowse link
G Zp3 zona pellucida glycoprotein 3 ISO ClinVar Annotator: match by term: OOCYTE MATURATION DEFECT 3 ClinVar
OMIM
PMID:28886344 PMID:30810869 NCBI chr12:20,690,547...20,697,513
Ensembl chr12:20,690,547...20,697,513
JBrowse link
Oocyte Maturation Defect 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Patl2 PAT1 homolog 2 ISO ClinVar Annotator: match by term: OOCYTE MATURATION DEFECT 4
ClinVar Annotator: match by term: Oocyte maturation defect 4
ClinVar
OMIM
PMID:24033266 PMID:25741868 PMID:28965844 PMID:28965849 PMID:29661911 More... NCBI chr 3:109,072,958...109,087,425
Ensembl chr 3:109,075,290...109,083,253
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 ISO ClinVar Annotator: match by term: OOCYTE MATURATION DEFECT 5 ClinVar
OMIM
PMID:29606300 PMID:30628060 NCBI chr 4:69,239,043...69,261,576
Ensembl chr 4:69,239,299...69,261,093
JBrowse link
Oocyte Maturation Defect 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zp2 zona pellucida glycoprotein 2 ISO ClinVar Annotator: match by term: OOCYTE MATURATION DEFECT 6 OMIM
ClinVar
PMID:29895852 PMID:30810869 NCBI chr 1:174,513,507...174,525,288
Ensembl chr 1:174,513,511...174,525,288
JBrowse link
Oocyte Maturation Defect 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Panx1 Pannexin 1 ISO ClinVar Annotator: match by term: OOCYTE MATURATION DEFECT 7 OMIM
ClinVar
PMID:30918116 NCBI chr 8:11,851,176...11,889,774
Ensembl chr 8:11,850,730...11,889,774
JBrowse link
Oocyte Maturation Defect 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Btg4 BTG anti-proliferation factor 4 ISO ClinVar Annotator: match by term: Oocyte maturation defect 8
ClinVar Annotator: match by term: OOCYTE MATURATION DEFECT 8
OMIM
ClinVar
PMID:25741868 PMID:32502391 NCBI chr 8:51,410,774...51,425,802
Ensembl chr 8:51,422,061...51,425,796
JBrowse link
Oocyte Maturation Defect 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trip13 thyroid hormone receptor interactor 13 ISO ClinVar Annotator: match by term: OOCYTE MATURATION DEFECT 9 OMIM
ClinVar
PMID:32473092 NCBI chr 1:29,357,093...29,402,078
Ensembl chr 1:29,357,130...29,402,074
JBrowse link
Preimplantation Embryonic Lethality 1 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 ISO ClinVar Annotator: match by term: Preimplantation embryonic lethality 1 ClinVar
OMIM
PMID:25741868 PMID:26537248 NCBI chr 7:8,107,050...8,118,639
Ensembl chr 7:8,107,207...8,118,639
JBrowse link
Preimplantation Embryonic Lethality 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Padi6 peptidyl arginine deiminase 6 ISO ClinVar Annotator: match by term: PREIMPLANTATION EMBRYONIC LETHALITY 2 ClinVar
OMIM
PMID:27545678 NCBI chr 5:153,022,089...153,037,376
Ensembl chr 5:153,021,965...153,037,414
JBrowse link
Sensorineural Deafness and Male Infertility term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Catsper2 cation channel, sperm associated 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Deafness-infertility syndrome
CTD
ClinVar
PMID:19344877 PMID:24033266 PMID:25741868 NCBI chr 3:108,368,654...108,389,380
Ensembl chr 3:108,368,668...108,388,050
JBrowse link
G Ckmt1 creatine kinase, mitochondrial 1 ISO ClinVar Annotator: match by term: Deafness-infertility syndrome ClinVar PMID:25741868 NCBI chr 3:108,329,859...108,335,760
Ensembl chr 3:108,330,705...108,335,758
JBrowse link
G Strc stereocilin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Deafness-infertility syndrome
CTD
ClinVar
PMID:18414213 PMID:24033266 PMID:25741868 NCBI chr 3:108,335,920...108,355,114
Ensembl chr 3:108,335,747...108,354,134
JBrowse link
Sertoli cell-only syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dmc1 DNA meiotic recombinase 1 ISS OMIM:305700 | OMIM:400042 MouseDO NCBI chr 7:111,124,888...111,167,465
Ensembl chr 7:111,124,888...111,167,952
JBrowse link
G Hnrnpl heterogeneous nuclear ribonucleoprotein L ISO protein:decreased expression:testis (human) RGD PMID:22245417 RGD:9999426 NCBI chr 1:84,098,558...84,111,568
Ensembl chr 1:84,100,879...84,111,553
JBrowse link
G Nupr1 nuclear protein 1, transcriptional regulator ISS OMIM:305700 | OMIM:400042 MouseDO NCBI chr 1:181,213,292...181,215,327 JBrowse link
spermatogenic failure term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aurkc aurora kinase C ISO ClinVar Annotator: match by term: Spermatogenic Failure ClinVar NCBI chr 1:66,843,653...66,864,348
Ensembl chr 1:66,843,653...66,864,386
JBrowse link
G Chpt1 choline phosphotransferase 1 ISO ClinVar Annotator: match by term: Spermatogenic Failure ClinVar NCBI chr 7:22,866,455...22,915,111
Ensembl chr 7:22,863,027...22,915,103
JBrowse link
G Nlrp14 NLR family, pyrin domain containing 14 ISO ClinVar Annotator: match by term: Spermatogenic Failure ClinVar PMID:16931801 PMID:20981092 PMID:22344438 PMID:24033266 PMID:25741868 NCBI chr 1:161,069,141...161,089,158
Ensembl chr 1:161,061,165...161,089,222
JBrowse link
G Sohlh1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 ISO ClinVar Annotator: match by term: Spermatogenic Failure ClinVar PMID:20506135 PMID:28492532 PMID:28718531 NCBI chr 3:8,662,995...8,667,521
Ensembl chr 3:8,663,318...8,667,388
JBrowse link
G Spata16 spermatogenesis associated 16 ISO ClinVar Annotator: match by term: Spermatogenic Failure ClinVar NCBI chr 2:109,485,287...109,865,665
Ensembl chr 2:109,485,274...109,865,659
JBrowse link
G Sycp3 synaptonemal complex protein 3 ISO ClinVar Annotator: match by term: Spermatogenic Failure ClinVar NCBI chr 7:22,874,055...22,888,512
Ensembl chr 7:22,874,055...22,888,511
JBrowse link
spermatogenic failure 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ank2 ankyrin 2 ISO ClinVar Annotator: match by term: Oligosynaptic infertility ClinVar PMID:228900 PMID:258150 NCBI chr 2:215,378,028...215,954,015
Ensembl chr 2:215,379,680...215,862,923
JBrowse link
G Dnah1 dynein, axonemal, heavy chain 1 ISO ClinVar Annotator: match by term: Oligosynaptic infertility ClinVar PMID:25741868 PMID:28492532 NCBI chr16:6,455,514...6,517,103
Ensembl chr16:6,456,002...6,518,350
JBrowse link
G Nr5a1 nuclear receptor subfamily 5, group A, member 1 ISO ClinVar Annotator: match by term: Oligosynaptic infertility ClinVar PMID:9536098 PMID:10369247 PMID:11038323 PMID:12907682 PMID:17576681 More... NCBI chr 3:22,464,786...22,486,328
Ensembl chr 3:22,465,502...22,486,328
JBrowse link
G Pdha2 pyruvate dehydrogenase E1 subunit alpha 2 ISO ClinVar Annotator: match by term: Oligosynaptic infertility ClinVar NCBI chr 2:229,872,300...229,873,848 JBrowse link
G Sycp2 synaptonemal complex protein 2 ISO ClinVar Annotator: match by term: Oligosynaptic infertility OMIM
ClinVar
PMID:25741868 PMID:31866047 NCBI chr 3:165,431,715...165,502,134
Ensembl chr 3:165,436,331...165,498,789
JBrowse link
G Tex15 testis expressed 15, meiosis and synapsis associated ISO ClinVar Annotator: match by term: Oligosynaptic infertility ClinVar PMID:26199321 NCBI chr16:58,598,991...58,659,005
Ensembl chr16:58,598,989...58,658,467
JBrowse link
spermatogenic failure 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Septin12 septin 12 ISO ClinVar Annotator: match by OMIM:614822 OMIM
ClinVar
PMID:22275165 PMID:22479503 NCBI chr10:10,580,900...10,590,582
Ensembl chr10:10,581,008...10,590,581
JBrowse link
spermatogenic failure 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Klhl10 kelch-like family member 10 ISO ClinVar Annotator: match by term: Spermatogenic failure 11
ClinVar Annotator: match by OMIM:615081
OMIM
ClinVar
PMID:17047026 PMID:25741868 PMID:28492532 NCBI chr10:85,376,442...85,392,720
Ensembl chr10:85,376,442...85,392,720
JBrowse link
spermatogenic failure 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nanos1 nanos C2HC-type zinc finger 1 ISO OMIM NCBI chr 1:259,897,659...259,901,501
Ensembl chr 1:259,897,939...259,898,730
JBrowse link
spermatogenic failure 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Taf4b TATA-box binding protein associated factor 4b ISO ClinVar Annotator: match by OMIM:615841 OMIM
ClinVar
PMID:24431330 NCBI chr18:5,952,737...6,086,408
Ensembl chr18:5,952,769...6,068,307
JBrowse link
spermatogenic failure 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zmynd15 zinc finger, MYND-type containing 15 ISO ClinVar Annotator: match by term: Spermatogenic failure 14 OMIM
ClinVar
PMID:33169450 NCBI chr10:55,171,198...55,177,812
Ensembl chr10:55,171,198...55,177,812
JBrowse link
spermatogenic failure 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Syce1 synaptonemal complex central element protein 1 ISO ClinVar Annotator: match by term: Spermatogenic failure 15 ClinVar
OMIM
PMID:25899990 NCBI chr 1:195,852,171...195,863,174
Ensembl chr 1:195,852,172...195,863,174
JBrowse link
spermatogenic failure 16 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sun5 Sad1 and UNC84 domain containing 5 ISO ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 16
ClinVar Annotator: match by term: Spermatogenic failure 16
ClinVar
OMIM
PMID:27640305 PMID:28492532 PMID:29331481 NCBI chr 3:142,334,902...142,355,330
Ensembl chr 3:142,334,928...142,355,330
JBrowse link
spermatogenic failure 17 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pik3c2g phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma ISO ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 17
ClinVar Annotator: match by term: Spermatogenic failure 17
ClinVar PMID:25741868 PMID:26721930 PMID:31463947 NCBI chr 4:172,483,752...172,851,623
Ensembl chr 4:172,484,345...172,850,544
JBrowse link
G Plcz1 phospholipase C, zeta 1 ISO ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 17
ClinVar Annotator: match by term: Spermatogenic failure 17
ClinVar
OMIM
PMID:25741868 PMID:26721930 PMID:31463947 NCBI chr 4:172,873,110...172,929,191
Ensembl chr 4:172,873,112...172,928,358
JBrowse link
spermatogenic failure 18 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cfap251 cilia and flagella associated protein 251 ISO ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 18 ClinVar PMID:30122540 NCBI chr12:33,261,622...33,337,028
Ensembl chr12:33,261,476...33,293,932
JBrowse link
G Dnah1 dynein, axonemal, heavy chain 1 ISO ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 18
ClinVar Annotator: match by term: Spermatogenic failure 18
ClinVar
OMIM
PMID:9536098 PMID:11371505 PMID:16199547 PMID:17576681 PMID:24033266 More... NCBI chr16:6,455,514...6,517,103
Ensembl chr16:6,456,002...6,518,350
JBrowse link
spermatogenic failure 19 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cfap43 cilia and flagella associated protein 43 ISO ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 19
ClinVar Annotator: match by term: Spermatogenic failure 19
ClinVar
OMIM
PMID:25741868 PMID:28552195 PMID:29277146 PMID:29449551 NCBI chr 1:246,625,259...246,712,438
Ensembl chr 1:246,625,262...246,712,443
JBrowse link
spermatogenic failure 20 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cfap44 cilia and flagella associated protein 44 ISO ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 20
ClinVar Annotator: match by term: Spermatogenic failure 20
ClinVar
OMIM
PMID:25741868 PMID:28552195 PMID:29277146 PMID:29449551 NCBI chr11:56,199,050...56,284,053
Ensembl chr11:56,201,049...56,283,986
JBrowse link
spermatogenic failure 21 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Brdt bromodomain testis associated ISO ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 21 ClinVar
OMIM
PMID:28199965 NCBI chr14:2,421,094...2,445,842
Ensembl chr14:2,387,796...2,445,842
JBrowse link
spermatogenic failure 22 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Meiob meiosis specific with OB-fold ISO ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 22 ClinVar
OMIM
PMID:28206990 NCBI chr10:13,833,170...13,865,684
Ensembl chr10:13,833,750...13,865,046
JBrowse link
spermatogenic failure 23 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tex14 testis expressed 14, intercellular bridge forming factor ISO ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 23 ClinVar
OMIM
PMID:28206990 PMID:29790874 NCBI chr10:72,231,766...72,356,938
Ensembl chr10:72,231,801...72,355,805
JBrowse link
spermatogenic failure 24 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cfap69 cilia and flagella associated protein 69 ISO ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 24
ClinVar Annotator: match by term: Spermatogenic failure 24
ClinVar
OMIM
PMID:25741868 PMID:29606301 PMID:30415212 NCBI chr 4:28,379,604...28,452,562
Ensembl chr 4:28,375,996...28,450,698
JBrowse link
spermatogenic failure 25 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tex15 testis expressed 15, meiosis and synapsis associated ISO ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 25
ClinVar Annotator: match by term: Spermatogenic failure 25
ClinVar
OMIM
PMID:25741868 PMID:26199321 PMID:28355598 NCBI chr16:58,598,991...58,659,005
Ensembl chr16:58,598,989...58,658,467
JBrowse link
spermatogenic failure 26 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tsga10 testis specific 10 ISO ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 26 ClinVar
OMIM
PMID:28905369 NCBI chr 9:39,991,822...40,098,239
Ensembl chr 9:39,991,830...40,098,232
JBrowse link
spermatogenic failure 27 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ak7 adenylate kinase 7 ISO ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 27 ClinVar
OMIM
PMID:25741868 PMID:29365104 NCBI chr 6:124,611,789...124,679,978
Ensembl chr 6:124,611,902...124,679,961
JBrowse link
spermatogenic failure 28 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fancm FA complementation group M ISO ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 28
ClinVar Annotator: match by term: Spermatogenic failure 28
ClinVar
OMIM
PMID:9536098 PMID:17289582 PMID:17576681 PMID:18174376 PMID:18414213 More... NCBI chr 6:83,126,903...83,180,455
Ensembl chr 6:83,127,093...83,180,028
JBrowse link
spermatogenic failure 29 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Spink2 serine peptidase inhibitor, Kazal type 2 ISO ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 29
ClinVar Annotator: match by term: Spermatogenic failure 29
ClinVar
OMIM
PMID:25741868 PMID:28554943 NCBI chr14:30,967,682...30,974,326
Ensembl chr14:30,967,714...30,974,326
JBrowse link
spermatogenic failure 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dmrt1 doublesex and mab-3 related transcription factor 1 ISO ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar PMID:24934491 PMID:25741868 PMID:28492532 PMID:31479588 NCBI chr 1:223,142,859...223,241,333
Ensembl chr 1:223,142,859...223,241,333
JBrowse link
G Dnmt3b DNA methyltransferase 3 beta ISO ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar PMID:10647011 PMID:11102980 PMID:11919202 PMID:15580563 PMID:25741868 More... NCBI chr 3:142,130,592...142,169,124
Ensembl chr 3:142,130,592...142,169,124
JBrowse link
G Foxp3 forkhead box P3 ISO ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar PMID:24258212 PMID:28492532 NCBI chr  X:14,908,494...14,924,994
Ensembl chr  X:14,908,494...14,923,838
JBrowse link
G Klhl10 kelch-like family member 10 ISO ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar PMID:25741868 PMID:28492532 PMID:31479588 NCBI chr10:85,376,442...85,392,720
Ensembl chr10:85,376,442...85,392,720
JBrowse link
G M1ap meiosis 1 associated protein ISO ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar PMID:25741868 PMID:32673564 NCBI chr 4:115,445,910...115,536,745
Ensembl chr 4:115,455,397...115,536,487
JBrowse link
G Mon1b MON1 homolog B, secretory trafficking associated ISO ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar PMID:25741868 PMID:28492532 PMID:31479588 NCBI chr19:41,617,201...41,625,347
Ensembl chr19:41,617,364...41,625,347
JBrowse link
G Msh4 mutS homolog 4 ISO ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar PMID:25741868 PMID:33448284 NCBI chr 2:242,785,392...242,844,609
Ensembl chr 2:242,792,661...242,843,487
JBrowse link
G Msh5 mutS homolog 5 ISO ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar PMID:25741868 NCBI chr20:3,773,867...3,793,337
Ensembl chr20:3,776,942...3,793,336
JBrowse link
G Npas2 neuronal PAS domain protein 2 ISO ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar PMID:25956372 NCBI chr 9:41,463,361...41,642,322
Ensembl chr 9:41,463,830...41,642,320
JBrowse link
G Rec8 REC8 meiotic recombination protein ISO ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar PMID:25741868 PMID:31479588 NCBI chr15:29,109,862...29,117,327
Ensembl chr15:29,109,863...29,117,326
JBrowse link
G Six6os1 Six6 opposite strand transcript 1 ISO ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar PMID:33508233 NCBI chr 6:91,579,185...91,615,183
Ensembl chr 6:91,579,325...91,615,148
JBrowse link
G Slc26a8 solute carrier family 26 member 8 ISO ClinVar Annotator: match by OMIM:606766 OMIM
ClinVar
PMID:23582645 NCBI chr20:6,686,206...6,749,478
Ensembl chr20:6,697,723...6,749,478
JBrowse link
G Srsf6 serine and arginine rich splicing factor 6 susceptibility ISO DNA:snp:intron:g.IVS2+305T>C (rs6103330) (human) RGD PMID:24661730 RGD:11039404 NCBI chr 3:151,589,546...151,594,869
Ensembl chr 3:151,589,535...151,594,860
JBrowse link
G Stag3 stromal antigen 3 ISO ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar PMID:25741868 NCBI chr12:17,284,677...17,314,936
Ensembl chr12:17,284,794...17,314,935
JBrowse link
G Syce1l synaptonemal complex central element protein 1-like ISO ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar PMID:25741868 PMID:28492532 PMID:31479588 NCBI chr19:41,625,074...41,635,541
Ensembl chr19:41,617,180...41,635,526
JBrowse link
G Tex11 testis expressed 11 ISO ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar PMID:25970010 PMID:28132688 NCBI chr  X:65,932,904...66,196,525
Ensembl chr  X:65,932,988...66,196,187
JBrowse link
G Tex14 testis expressed 14, intercellular bridge forming factor ISO ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar PMID:25741868 PMID:28492532 PMID:31479588 NCBI chr10:72,231,766...72,356,938
Ensembl chr10:72,231,801...72,355,805
JBrowse link
G Tex15 testis expressed 15, meiosis and synapsis associated ISO ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar PMID:25741868 PMID:28492532 PMID:31479588 NCBI chr16:58,598,991...58,659,005
Ensembl chr16:58,598,989...58,658,467
JBrowse link
G Trim71 tripartite motif containing 71 ISO ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar PMID:25741868 NCBI chr 8:114,193,439...114,250,807
Ensembl chr 8:114,199,187...114,250,807
JBrowse link
G Zswim7 zinc finger, SWIM-type containing 7 ISO ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar NCBI chr10:46,953,311...46,969,800
Ensembl chr10:46,957,525...46,969,671
JBrowse link
spermatogenic failure 30 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tdrd9 tudor domain containing 9 ISO ClinVar Annotator: match by term: Spermatogenic failure 30 OMIM
ClinVar
PMID:25741868 NCBI chr 6:131,029,644...131,145,076
Ensembl chr 6:131,029,652...131,144,651
JBrowse link
spermatogenic failure 31 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyba cytochrome b-245 alpha chain ISO ClinVar Annotator: match by term: CYBA DEFICIENCY ClinVar PMID:3368442 PMID:9445163 PMID:10440830 PMID:19388116 PMID:25741868 More... NCBI chr19:50,487,598...50,495,669
Ensembl chr19:50,487,597...50,495,721
JBrowse link
G Pmfbp1 polyamine modulated factor 1 binding protein 1 ISO ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 31 ClinVar
OMIM
PMID:30032984 PMID:30298696 NCBI chr19:37,443,432...37,507,880
Ensembl chr19:37,458,108...37,507,879
JBrowse link
spermatogenic failure 32 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sohlh1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 ISO ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 32 OMIM
ClinVar
PMID:20506135 PMID:28492532 PMID:28718531 NCBI chr 3:8,662,995...8,667,521
Ensembl chr 3:8,663,318...8,667,388
JBrowse link
spermatogenic failure 33 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cfap251 cilia and flagella associated protein 251 ISO ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 33 ClinVar
OMIM
PMID:30122540 PMID:30122541 NCBI chr12:33,261,622...33,337,028
Ensembl chr12:33,261,476...33,293,932
JBrowse link
G Dnah1 dynein, axonemal, heavy chain 1 ISO ClinVar Annotator: match by term: Non-syndromic male infertility due to sperm motility disorder ClinVar PMID:24033266 NCBI chr16:6,455,514...6,517,103
Ensembl chr16:6,456,002...6,518,350
JBrowse link
spermatogenic failure 34 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fsip2 fibrous sheath-interacting protein 2 ISO ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 34 ClinVar
OMIM
PMID:30137358 NCBI chr 3:67,962,345...68,032,866
Ensembl chr 3:67,962,360...68,032,868
JBrowse link
spermatogenic failure 35 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Qrich2 glutamine rich 2 ISO ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 35 OMIM
ClinVar
PMID:31110204 PMID:31292949 NCBI chr10:101,669,235...101,685,281
Ensembl chr10:101,669,224...101,697,656
JBrowse link
spermatogenic failure 36 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ppp2r3c protein phosphatase 2, regulatory subunit B'', gamma ISO ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 36 OMIM
ClinVar
PMID:30893644 NCBI chr 6:72,647,025...72,670,885
Ensembl chr 6:72,647,025...72,672,491
JBrowse link
spermatogenic failure 37 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ttc21a tetratricopeptide repeat domain 21A ISO ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 37 OMIM
ClinVar
PMID:30929735 NCBI chr 8:119,667,044...119,702,028
Ensembl chr 8:119,666,933...119,702,456
JBrowse link
spermatogenic failure 38 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Armc2 armadillo repeat containing 2 ISO ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 38 ClinVar
OMIM
PMID:30686508 NCBI chr20:45,395,859...45,501,808
Ensembl chr20:45,394,127...45,504,819
JBrowse link
G Cfap206 cilia and flagella associated protein 206 ISO ClinVar Annotator: match by term: Sperm tail anomaly ClinVar PMID:24360805 NCBI chr 5:49,254,399...49,299,145
Ensembl chr 5:49,254,408...49,299,090
JBrowse link
G Cfap91 cilia and flagella associated protein 91 ISO ClinVar Annotator: match by term: Male infertility with teratozoospermia due to single gene mutation ClinVar PMID:32161152 NCBI chr11:62,413,613...62,457,281
Ensembl chr11:62,413,602...62,457,293
JBrowse link
spermatogenic failure 39 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnah17 dynein, axonemal, heavy chain 17 ISO ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 39 OMIM
ClinVar
PMID:25741868 PMID:31178125 NCBI chr10:103,244,144...103,364,953
Ensembl chr10:103,249,363...103,364,901
JBrowse link
spermatogenic failure 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chpt1 choline phosphotransferase 1 ISO ClinVar Annotator: match by term: Spermatogenesis arrest
ClinVar Annotator: match by term: Spermatogenic failure 4
ClinVar PMID:19110213 PMID:28492532 PMID:28801929 PMID:29713536 NCBI chr 7:22,866,455...22,915,111
Ensembl chr 7:22,863,027...22,915,103
JBrowse link
G M1ap meiosis 1 associated protein ISO ClinVar Annotator: match by term: Spermatogenesis maturation arrest ClinVar PMID:32017041 NCBI chr 4:115,445,910...115,536,745
Ensembl chr 4:115,455,397...115,536,487
JBrowse link
G Rpl10l ribosomal protein L10-like ISO ClinVar Annotator: match by term: Spermatogenesis maturation arrest ClinVar PMID:32111475 NCBI chr 6:84,544,771...84,545,863 JBrowse link
G Sycp2 synaptonemal complex protein 2 ISO ClinVar Annotator: match by term: Early spermatogenesis maturation arrest ClinVar PMID:25741868 PMID:31866047 NCBI chr 3:165,431,715...165,502,134
Ensembl chr 3:165,436,331...165,498,789
JBrowse link
G Sycp3 synaptonemal complex protein 3 ISO ClinVar Annotator: match by term: Spermatogenic failure 4
ClinVar Annotator: match by term: Spermatogenesis arrest
ClinVar Annotator: match by OMIM:270960
OMIM
ClinVar
PMID:14643120 PMID:19110213 PMID:28492532 PMID:28801929 PMID:29713536 NCBI chr 7:22,874,055...22,888,512
Ensembl chr 7:22,874,055...22,888,511
JBrowse link
spermatogenic failure 40 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cfap65 cilia and flagella associated protein 65 ISO ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 40
ClinVar Annotator: match by term: Spermatogenic failure 40
ClinVar
OMIM
PMID:25741868 PMID:28552195 PMID:31413122 PMID:31501240 PMID:31571197 NCBI chr 9:76,459,211...76,494,199
Ensembl chr 9:76,459,211...76,494,128
JBrowse link
spermatogenic failure 41 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cfap70 cilia and flagella associated protein 70 ISO ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 41 ClinVar
OMIM
PMID:31621862 NCBI chr15:3,852,381...3,918,036
Ensembl chr15:3,852,509...3,918,014
JBrowse link
spermatogenic failure 42 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ttc29 tetratricopeptide repeat domain 29 ISO ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 42 ClinVar
OMIM
PMID:31735292 PMID:31735294 NCBI chr19:29,531,707...29,750,635
Ensembl chr19:29,532,663...29,750,615
JBrowse link
spermatogenic failure 43 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Spef2 sperm flagellar 2 ISO ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 43 ClinVar
OMIM
PMID:31048344 PMID:31151990 PMID:31278745 NCBI chr 2:58,512,489...58,694,718
Ensembl chr 2:58,512,489...58,694,664
JBrowse link
spermatogenic failure 44 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cep112 centrosomal protein 112 ISO ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 44 OMIM
ClinVar
PMID:31654588 NCBI chr10:93,366,059...93,833,133
Ensembl chr10:93,366,136...93,833,131
JBrowse link
spermatogenic failure 45 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnah2 dynein, axonemal, heavy chain 2 ISO ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 45 OMIM
ClinVar
PMID:30811583 NCBI chr10:54,142,648...54,268,901
Ensembl chr10:54,142,737...54,267,298
JBrowse link
spermatogenic failure 46 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnah8 dynein, axonemal, heavy chain 8 ISO ClinVar Annotator: match by term: Spermatogenic failure 46
ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 46
OMIM
ClinVar
PMID:24033266 PMID:25741868 PMID:28492532 PMID:32619401 PMID:32681648 NCBI chr20:8,692,939...8,946,780
Ensembl chr20:8,692,963...8,946,772
JBrowse link
spermatogenic failure 47 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dzip1 DAZ interacting zinc finger protein 1 ISO ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 47 OMIM
ClinVar
PMID:32051257 NCBI chr15:95,956,329...96,009,994
Ensembl chr15:95,956,398...96,010,066
JBrowse link
spermatogenic failure 48 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G M1ap meiosis 1 associated protein ISO ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 48 ClinVar
OMIM
PMID:25741868 PMID:32017041 PMID:32673564 NCBI chr 4:115,445,910...115,536,745
Ensembl chr 4:115,455,397...115,536,487
JBrowse link
spermatogenic failure 49 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cfap58 cilia and flagella associated protein 58 ISO ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 49 OMIM
ClinVar
PMID:32791035 NCBI chr 1:246,802,681...246,911,363
Ensembl chr 1:246,802,665...246,911,374
JBrowse link
spermatogenic failure 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aurkc aurora kinase C ISO ClinVar Annotator: match by OMIM:243060
ClinVar Annotator: match by term: Male infertility with spermatogenesis disorder
ClinVar Annotator: match by term: Infertility associated with multi-tailed spermatozoa and excessive DNA
ClinVar
OMIM
PMID:17435757 PMID:19147683 PMID:21733974 PMID:22888167 PMID:24033266 More... NCBI chr 1:66,843,653...66,864,348
Ensembl chr 1:66,843,653...66,864,386
JBrowse link
spermatogenic failure 50 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Xrcc2 X-ray repair cross complementing 2 ISO ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 50 OMIM
ClinVar
PMID:30042186 PMID:30489636 NCBI chr 4:9,423,873...9,502,980
Ensembl chr 4:9,423,898...9,442,482
JBrowse link
spermatogenic failure 51 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cfap91 cilia and flagella associated protein 91 ISO ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 51 OMIM
ClinVar
PMID:32161152 NCBI chr11:62,413,613...62,457,281
Ensembl chr11:62,413,602...62,457,293
JBrowse link
spermatogenic failure 52 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Six6os1 Six6 opposite strand transcript 1 ISO ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 52 OMIM
ClinVar
PMID:33508233 NCBI chr 6:91,579,185...91,615,183
Ensembl chr 6:91,579,325...91,615,148
JBrowse link
spermatogenic failure 53 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actl9 actin-like 9 ISO ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 53 OMIM
ClinVar
PMID:33626338 NCBI chr 7:14,234,504...14,235,881
Ensembl chr 7:14,234,504...14,235,881
JBrowse link
Spermatogenic Failure 54 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Catip ciliogenesis associated TTC17 interacting protein ISO ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 54 OMIM
ClinVar
PMID:32503832 NCBI chr 9:75,945,933...75,953,618
Ensembl chr 9:75,945,961...75,953,607
JBrowse link
Spermatogenic Failure 55 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Spag17 sperm associated antigen 17 ISO ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 55 ClinVar
OMIM
PMID:28548327 NCBI chr 2:187,264,004...187,511,061
Ensembl chr 2:187,264,009...187,510,501
JBrowse link
Spermatogenic Failure 56 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnah10 dynein, axonemal, heavy chain 10 ISO OMIM NCBI chr12:31,823,451...31,946,857 JBrowse link
spermatogenic failure 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Spata16 spermatogenesis associated 16 ISO OMIM NCBI chr 2:109,485,287...109,865,665
Ensembl chr 2:109,485,274...109,865,659
JBrowse link
spermatogenic failure 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Catsper1 cation channel, sperm associated 1 ISO ClinVar Annotator: match by term: Spermatogenic failure 7 OMIM
ClinVar
PMID:19344877 PMID:20301780 PMID:21255775 PMID:24442342 PMID:25741868 More... NCBI chr 1:202,643,009...202,652,059
Ensembl chr 1:202,643,038...202,651,824
JBrowse link
G Catsper2 cation channel, sperm associated 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:108,368,654...108,389,380
Ensembl chr 3:108,368,668...108,388,050
JBrowse link
G Strc stereocilin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 7
CTD
ClinVar
PMID:24033266 PMID:25741868 NCBI chr 3:108,335,920...108,355,114
Ensembl chr 3:108,335,747...108,354,134
JBrowse link
spermatogenic failure 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nr5a1 nuclear receptor subfamily 5, group A, member 1 ISO ClinVar Annotator: match by OMIM:613957 OMIM
ClinVar
PMID:20887963 NCBI chr 3:22,464,786...22,486,328
Ensembl chr 3:22,465,502...22,486,328
JBrowse link
spermatogenic failure 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dpy19l2 dpy-19 like 2 ISO ClinVar Annotator: match by term: Spermatogenic failure 9
ClinVar Annotator: match by OMIM:613958
OMIM
ClinVar
PMID:15533374 PMID:21397063 PMID:21397064 PMID:22627659 PMID:22653751 More... NCBI chr 8:23,062,592...23,181,817
Ensembl chr 8:23,063,115...23,181,798
JBrowse link
Teratozoospermia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nectin2 nectin cell adhesion molecule 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28689229 NCBI chr 1:79,372,123...79,407,379
Ensembl chr 1:79,372,119...79,407,360
JBrowse link
G Nectin3 nectin cell adhesion molecule 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28689229 NCBI chr11:54,362,712...54,461,316
Ensembl chr11:54,364,487...54,462,519
JBrowse link
G Nos3 nitric oxide synthase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29983398 NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
JBrowse link
Visceral Heterotaxy 9, Autosomal term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mns1 meiosis-specific nuclear structural 1 ISO ClinVar Annotator: match by term: HETEROTAXY, VISCERAL, 9, AUTOSOMAL, WITH MALE INFERTILITY ClinVar
OMIM
PMID:30148830 NCBI chr 8:73,148,877...73,169,570
Ensembl chr 8:73,148,877...73,176,925
JBrowse link
G Tex9 testis expressed 9 ISO ClinVar Annotator: match by term: HETEROTAXY, VISCERAL, 9, AUTOSOMAL, WITH MALE INFERTILITY ClinVar PMID:30148830 NCBI chr 8:73,168,519...73,213,935
Ensembl chr 8:73,177,810...73,214,261
JBrowse link
X-linked congenital bilateral absence of vas deferens term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adgrg2 adhesion G protein-coupled receptor G2 ISO ClinVar Annotator: match by term: Vas deferens, congenital bilateral aplasia of, X-linked ClinVar
OMIM
PMID:25741868 PMID:27476656 NCBI chr  X:34,297,402...34,422,590
Ensembl chr  X:34,297,402...34,422,609
JBrowse link
X-linked spermatogenic failure 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tex11 testis expressed 11 ISO ClinVar Annotator: match by term: Spermatogenic failure, X-linked, 2 OMIM
ClinVar
PMID:25970010 PMID:28492532 NCBI chr  X:65,932,904...66,196,525
Ensembl chr  X:65,932,988...66,196,187
JBrowse link
X-linked spermatogenic failure 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cfap47 cilia and flagella associated protein 47 ISO ClinVar Annotator: match by term: SPERMATOGENIC FAILURE, X-LINKED, 3 ClinVar
OMIM
PMID:33472045 NCBI chr  X:43,264,687...43,616,607
Ensembl chr  X:43,263,490...43,616,852
JBrowse link
Y-linked spermatogenic failure 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ddx3 DEAD (Asp-Glu-Ala-Asp) box polypeptide 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr  Y:1,115,095...1,135,754
Ensembl chr  Y:1,116,309...1,135,706
JBrowse link
G Kdm5d lysine demethylase 5D ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr  Y:527,069...624,019
Ensembl chr  Y:530,401...624,018
JBrowse link
G Rps4y2 ribosomal protein S4, Y-linked 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:181,269,507...181,270,440
Ensembl chr 4:181,269,081...181,270,349
JBrowse link
G Usp9y ubiquitin specific peptidase 9, Y-linked ISO ClinVar Annotator: match by OMIM:415000
ClinVar Annotator: match by term: Hypospermatogenesis, nonobstructive, Y-linked
ClinVar
OMIM
PMID:9384609 PMID:10402373 PMID:10507722 PMID:10581029 PMID:10767340 More... NCBI chr  Y:1,156,135...1,300,965
Ensembl chr  Y:1,156,135...1,300,943
JBrowse link
Young Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pgk1 phosphoglycerate kinase 1 ISO ClinVar Annotator: match by term: Male infertility due to obstructive azoospermia ClinVar NCBI chr  X:71,271,454...71,287,429
Ensembl chr  X:71,271,440...71,287,418
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17205
    disease of anatomical entity 16551
      reproductive system disease 2735
        female reproductive system disease 1735
          infertility 283
            Female Infertility + 57
            male infertility + 201
Path 2
Term Annotations click to browse term
  disease 17205
    disease of anatomical entity 16551
      Urogenital Diseases 4356
        Female Urogenital Diseases and Pregnancy Complications 2044
          Female Urogenital Diseases 1739
            female reproductive system disease 1735
              infertility 283
                Female Infertility + 57
                male infertility + 201
paths to the root