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.
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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
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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
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Atmem1Kyo
ATM serine/threonine kinase; ZFN induced mutant 1, Kyo
IMP
RGD
PMID:28007901
RGD:12879399
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Atmm1Kyo
ATM serine/threonine kinase; ENU induced mutant 1, Kyo
IMP
RGD
PMID:27895165
RGD:12879393
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Brca2
BRCA2, DNA repair associated
IMP
RGD
PMID:12754522
RGD:727990
NCBI chr12:59,492...103,789
Ensembl chr12:59,819...100,567
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Brca2m1Uwm
BRCA2, DNA repair associated; mutation 1, University of Wisconsin-Madison
IMP
RGD
PMID:12754522
RGD:727990
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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
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Ccdc103
coiled-coil domain containing 103
ISO
ClinVar Annotator: match by term: Infertility
ClinVar
PMID:22581229 PMID:23891469 PMID:24033266 PMID:24357714 PMID:25326635 PMID:25741868 PMID:26123568 PMID:27637300 PMID:28492532 PMID:28790179 PMID:30067075 More...
NCBI chr10:87,846,327...87,849,959
Ensembl chr10:87,846,357...87,849,757
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Ccdc39
coiled-coil domain 39 molecular ruler complex subunit
ISO
ClinVar Annotator: match by term: Infertility
ClinVar
PMID:16199547 PMID:21131972 PMID:22693295 PMID:23255504 PMID:25741868 PMID:28492532 PMID:31772028 PMID:32253119 More...
NCBI chr 2:116,665,651...116,703,354
Ensembl chr 2:116,665,261...116,703,350
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Cdc23
cell division cycle 23
ISS
MouseDO
NCBI chr18:26,236,891...26,260,611
Ensembl chr18:26,236,890...26,291,163
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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
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Cdkn1bem1Musc
cyclin-dependent kinase inhibitor 1B; CRISPR/Cas9 induced mutant 1, Musc
IMP
RGD
PMID:30893315
RGD:126908018
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Cdkn1bem4Musc
cyclin-dependent kinase inhibitor 1B; CRISPR/Cas9 induced mutant 4, Musc
IMP
RGD
PMID:30893315
RGD:126908018
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Cftr
CF transmembrane conductance regulator
ISO
ClinVar Annotator: match by term: Infertility
ClinVar
PMID:1284535 PMID:1379210 PMID:1384326 PMID:1977306 PMID:7508183 PMID:7513293 PMID:7517264 PMID:7525963 PMID:7543317 PMID:7682884 PMID:7686336 PMID:7691344 PMID:8605891 PMID:8644755 PMID:9108869 PMID:9272157 PMID:9439669 PMID:9804160 PMID:9921909 PMID:10439967 PMID:10801389 PMID:10869121 PMID:10875853 PMID:10970190 PMID:11025834 PMID:11168024 PMID:11303517 PMID:11354633 PMID:11845002 PMID:11883825 PMID:11938439 PMID:12014388 PMID:12167682 PMID:12454843 PMID:12752573 PMID:15097853 PMID:15537723 PMID:15619635 PMID:15727251 PMID:15857421 PMID:15858154 PMID:16134171 PMID:16193325 PMID:16484308 PMID:17003641 PMID:17489851 PMID:17572159 PMID:17594397 PMID:17681820 PMID:18178635 PMID:18195584 PMID:18501000 PMID:18687795 PMID:19092444 PMID:19587087 PMID:20021716 PMID:20706124 PMID:20837875 PMID:20932301 PMID:21184098 PMID:21198395 PMID:21499205 PMID:21520337 PMID:21658649 PMID:21804385 PMID:22020151 PMID:22271776 PMID:22427236 PMID:22658665 PMID:22678879 PMID:22975760 PMID:23613805 PMID:23716676 PMID:23721890 PMID:23791427 PMID:23846440 PMID:23891399 PMID:23951356 PMID:23974870 PMID:24033266 PMID:24418186 PMID:24451227 PMID:24586523 PMID:24631642 PMID:25033378 PMID:25287046 PMID:25346962 PMID:25741868 PMID:25797027 PMID:25824995 PMID:25910067 PMID:25963003 PMID:26436105 PMID:26467025 PMID:26538069 PMID:26708955 PMID:26898888 PMID:26900683 PMID:27171515 PMID:27214204 PMID:27738188 PMID:28492532 PMID:28544683 PMID:28603918 PMID:28830496 PMID:29589582 PMID:29805046 PMID:30488522 PMID:31088717 PMID:31488014 PMID:31916691 PMID:31990467 PMID:32784480 PMID:33572515 PMID:33768849 PMID:33946859 PMID:34426522 PMID:34782259 PMID:34995514 PMID:34996830 More...
NCBI chr 4:46,561,269...46,728,759
Ensembl chr 4:46,560,885...46,728,756
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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
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Csf1rtm(EGFP)Tset
colony stimulating factor 1 receptor; target mutant, Tset
IMP
RGD
PMID:30249809
RGD:41404725
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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
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Dnaaf11
dynein axonemal assembly factor 11
ISO
ClinVar Annotator: match by term: Infertility
ClinVar
PMID:28492532 PMID:30300419
NCBI chr 7:98,141,525...98,245,906
Ensembl chr 7:98,144,763...98,245,837
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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
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Dnah5
dynein, axonemal, heavy chain 5
ISO
ClinVar Annotator: match by term: Infertility
ClinVar
PMID:11788826 PMID:16627867 PMID:25741868 PMID:27637300 PMID:28492532 PMID:30293990 PMID:31589614 PMID:31879361 More...
NCBI chr 2:78,937,788...79,255,551
Ensembl chr 2:78,937,800...79,254,890
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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
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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
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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
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Esr1em1Soar
estrogen receptor 1; ZFN induced mutant 1, Soar
IMP
RGD
PMID:24506075
RGD:8552987
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Fanca
FA complementation group A
ISO
associated with Hypogonadism
RGD
PMID:10915769
RGD:11344895
NCBI chr19:51,304,126...51,362,586
Ensembl chr19:51,304,021...51,362,527
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Fgfr1
Fibroblast growth factor receptor 1
ISO
ClinVar Annotator: match by term: Infertility
ClinVar
PMID:25741868
NCBI chr16:66,491,930...66,547,161
Ensembl chr16:66,494,042...66,547,350
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Gnrhr
gonadotropin releasing hormone receptor
ISO
ClinVar Annotator: match by term: Infertility
ClinVar
PMID:7557974 PMID:9371856 PMID:10022417 PMID:10690855 PMID:10999776 PMID:11397842 PMID:11397871 PMID:12057744 PMID:12364481 PMID:12574221 PMID:12679486 PMID:15728205 PMID:17235395 PMID:20389088 PMID:20696889 PMID:21292259 PMID:21645587 PMID:21664240 PMID:22745237 PMID:23155690 PMID:23643382 PMID:23650335 PMID:25016926 PMID:25077900 PMID:25741868 PMID:26207952 PMID:26467025 PMID:26792935 PMID:28348023 PMID:28492532 PMID:29182666 PMID:30476149 PMID:33223529 PMID:33968656 PMID:34403359 PMID:36407308 More...
NCBI chr14:21,856,871...21,874,861
Ensembl chr14:21,856,871...21,874,861
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Kl
Klotho
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9363890
NCBI chr12:490,402...531,417
Ensembl chr12:490,399...530,080
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Lepr
leptin receptor
treatment
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:15093691 PMID:16284652
RGD:10412018
NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908
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Nphp4
nephrocystin 4
ISO
ClinVar Annotator: match by term: Infertility
ClinVar
PMID:12205563 PMID:12244321 PMID:23559409 PMID:25558065 PMID:25741868 PMID:28492532 More...
NCBI chr 5:162,986,157...163,073,708
Ensembl chr 5:162,988,370...163,073,706
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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
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Prokr2
prokineticin receptor 2
ISO
ClinVar Annotator: match by term: Infertility
ClinVar
PMID:16537498 PMID:17054399 PMID:18559922 PMID:18682503 PMID:18723471 PMID:18826963 PMID:20022991 PMID:20696889 PMID:21209029 PMID:21247312 PMID:22035731 PMID:22466334 PMID:22773735 PMID:23386640 PMID:23643382 PMID:24031091 PMID:24276467 PMID:24830383 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29161432 More...
NCBI chr 3:119,624,738...119,639,442
Ensembl chr 3:119,627,601...119,635,718
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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
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Tac3
tachykinin precursor 3
ISO
ClinVar Annotator: match by term: Infertility
ClinVar
PMID:25636053 PMID:28492532 PMID:29419413
NCBI chr 7:63,562,552...63,569,170
Ensembl chr 7:63,562,552...63,569,170
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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
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Ttc19
tetratricopeptide repeat domain 19
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21278747
NCBI chr10:46,969,723...46,997,607
Ensembl chr10:46,969,727...46,997,789
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Zswim7
zinc finger, SWIM-type containing 7
ISO
ClinVar Annotator: match by term: Infertility
ClinVar
NCBI chr10:46,953,311...46,969,800
Ensembl chr10:46,957,525...46,969,671
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Bscl2
BSCL2 lipid droplet biogenesis associated, seipin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26181198
NCBI chr 1:205,731,828...205,743,430
Ensembl chr 1:205,733,872...205,743,421
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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
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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
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Plau
plasminogen activator, urokinase
IEP ISO
mRNA, protein:decreased expression:testes, epididymis (rat) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:18998460 PMID:18998460
RGD:7241809
NCBI chr15:3,456,230...3,462,732
Ensembl chr15:3,456,232...3,462,775
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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
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Cftr
CF transmembrane conductance regulator
ISO
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 PMID:1284477 PMID:1284534 PMID:1284538 PMID:1284540 PMID:1284639 PMID:1347644 PMID:1370365 PMID:1370875 PMID:1371265 PMID:1373935 PMID:1376016 PMID:1377276 PMID:1379210 PMID:1379413 PMID:1380673 PMID:1380689 PMID:1380943 PMID:1381146 PMID:1381442 PMID:1381723 PMID:1382316 PMID:1384321 PMID:1384328 PMID:1518030 PMID:1536179 PMID:1537190 PMID:1545465 PMID:1673094 PMID:1678049 PMID:1682496 PMID:1695717 PMID:1709778 PMID:1710599 PMID:1710600 PMID:1712898 PMID:1715308 PMID:1721624 PMID:1723032 PMID:1723056 PMID:1756602 PMID:1757965 PMID:1757966 PMID:1903761 PMID:1937486 PMID:1997384 PMID:1998343 PMID:1999830 PMID:2045102 PMID:2135388 PMID:2210767 PMID:2210768 PMID:2210769 PMID:2220803 PMID:2233932 PMID:2233965 PMID:2236053 PMID:2267887 PMID:2300168 PMID:2344617 PMID:2349952 PMID:2378364 PMID:2397487 PMID:2441227 PMID:2475911 PMID:2565038 PMID:2570460 PMID:3716676 PMID:5371902 PMID:6840743 PMID:7472820 PMID:7475569 PMID:7493947 PMID:7504969 PMID:7505690 PMID:7505694 PMID:7505767 PMID:7506096 PMID:7506605 PMID:7508414 PMID:7509310 PMID:7509683 PMID:7509684 PMID:7512860 PMID:7512993 PMID:7513293 PMID:7513889 PMID:7515303 PMID:7516234 PMID:7517264 PMID:7517267 PMID:7517268 PMID:7518829 PMID:7520798 PMID:7521710 PMID:7521937 PMID:7522211 PMID:7522329 PMID:7522901 PMID:7525450 PMID:7525963 PMID:7526685 PMID:7526928 PMID:7529319 PMID:7529962 PMID:7532150 PMID:7533604 PMID:7534040 PMID:7534226 PMID:7534748 PMID:7535742 PMID:7536669 PMID:7537147 PMID:7537148 PMID:7537150 PMID:7538127 PMID:7539080 PMID:7539342 PMID:7540133 PMID:7541274 PMID:7541510 PMID:7542347 PMID:7542778 PMID:7543317 PMID:7543385 PMID:7544319 PMID:7544320 PMID:7544788 PMID:7545856 PMID:7545869 PMID:7550227 PMID:7550243 PMID:7551394 PMID:7560099 PMID:7573058 PMID:7581407 PMID:7586569 PMID:7599637 PMID:7668304 PMID:7680378 PMID:7680525 PMID:7680769 PMID:7681034 PMID:7681035 PMID:7682196 PMID:7683628 PMID:7683952 PMID:7684641 PMID:7684644 PMID:7684646 PMID:7686423 PMID:7686577 PMID:7686820 PMID:7687986 PMID:7689008 PMID:7689009 PMID:7689013 PMID:7689897 PMID:7691344 PMID:7691345 PMID:7691356 PMID:7691813 PMID:7692051 PMID:7693946 PMID:7739684 PMID:7789957 PMID:7868128 PMID:8092189 PMID:8100293 PMID:8163293 PMID:8213163 PMID:8343799 PMID:8406518 PMID:8421472 PMID:8477260 PMID:8522333 PMID:8528204 PMID:8530001 PMID:8533846 PMID:8535440 PMID:8556303 PMID:8605891 PMID:8644755 PMID:8659542 PMID:8662892 PMID:8663008 PMID:8680406 PMID:8698344 PMID:8702904 PMID:8707304 PMID:8707306 PMID:8723695 PMID:8740923 PMID:8741733 PMID:8825494 PMID:8825927 PMID:8829633 PMID:8829643 PMID:8834261 PMID:8844211 PMID:8844213 PMID:8863168 PMID:8880589 PMID:8886242 PMID:8889582 PMID:8910333 PMID:8947061 PMID:8956039 PMID:9003498 PMID:9003508 PMID:9039981 PMID:9043501 PMID:9056552 PMID:9067754 PMID:9067761 PMID:9084934 PMID:9099843 PMID:9101293 PMID:9135274 PMID:9150159 PMID:9164051 PMID:9235853 PMID:9239681 PMID:9254853 PMID:9254864 PMID:9259194 PMID:9259197 PMID:9271620 PMID:9272157 PMID:9272738 PMID:9305991 PMID:9321772 PMID:9374552 PMID:9375855 PMID:9383031 PMID:9401006 PMID:9401110 PMID:9435322 PMID:9439669 PMID:9452048 PMID:9452054 PMID:9475107 PMID:9482579 PMID:9493456 PMID:9499426 PMID:9507391 PMID:9512029 PMID:9521595 PMID:9536098 PMID:9550361 PMID:9550362 PMID:9557894 PMID:9598638 PMID:9618063 PMID:9620832 PMID:9630075 PMID:9683582 PMID:9719631 PMID:9725922 PMID:9736775 PMID:9736778 PMID:9788722 PMID:9799593 PMID:9804160 PMID:9806422 PMID:9822639 PMID:9881185 PMID:9915972 PMID:9920885 PMID:9921909 PMID:9950364 PMID:9950763 PMID:10077727 PMID:10094564 PMID:10103316 PMID:10200050 PMID:10204861 PMID:10206682 PMID:10225950 PMID:10341008 PMID:10351951 PMID:10362539 PMID:10376575 PMID:10386624 PMID:10388469 PMID:10401194 PMID:10425036 PMID:10439967 PMID:10445602 PMID:10453741 PMID:10480369 PMID:10556281 PMID:10562297 PMID:10571949 PMID:10571955 PMID:10601093 PMID:10612827 PMID:10636451 PMID:10639207 PMID:10652351 PMID:10653141 PMID:10653145 PMID:10668931 PMID:10671057 PMID:10719683 PMID:10746558 PMID:10755189 PMID:10762539 PMID:10764788 PMID:10777364 PMID:10782933 PMID:10790222 PMID:10794365 PMID:10798368 PMID:10801389 PMID:10812063 PMID:10819640 PMID:10834512 PMID:10836331 PMID:10875853 PMID:10875876 PMID:10909845 PMID:10913957 PMID:10922395 PMID:10923036 PMID:10925568 PMID:10950058 PMID:10963013 PMID:10970190 PMID:10993719 PMID:11005149 PMID:11038458 PMID:11055897 PMID:11069835 PMID:11101688 PMID:11118444 PMID:11137998 PMID:11158459 PMID:11168024 PMID:11180668 PMID:11186891 PMID:11242048 PMID:11278813 PMID:11280952 PMID:11303517 PMID:11336401 PMID:11354633 PMID:11379874 PMID:11388756 PMID:11427889 PMID:11446424 PMID:11448786 PMID:11466205 PMID:11484207 PMID:11491162 PMID:11491164 PMID:11504857 PMID:11523757 PMID:11547256 PMID:11597353 PMID:11668613 PMID:11729110 PMID:11732487 PMID:11733566 PMID:11737931 PMID:11746017 PMID:11781704 PMID:11788090 PMID:11788611 PMID:11796434 PMID:11796591 PMID:11810271 PMID:11883825 PMID:11888281 PMID:11924117 PMID:11933191 PMID:11938353 PMID:11938439 PMID:12000363 PMID:12007216 PMID:12070257 PMID:12070264 PMID:12080183 PMID:12120234 PMID:12124706 PMID:12127423 PMID:12133923 PMID:12167682 PMID:12172395 PMID:12200467 PMID:12357328 PMID:12394343 PMID:12397022 PMID:12400067 PMID:12414835 PMID:12437773 PMID:12439892 PMID:12452372 PMID:12454843 PMID:12503104 PMID:12544470 PMID:12578973 PMID:12624947 PMID:12651858 PMID:12719375 PMID:12732620 PMID:12752573 PMID:12759680 PMID:12767731 PMID:12815607 PMID:12825076 PMID:12843327 PMID:12843337 PMID:12865275 PMID:12874665 PMID:12900515 PMID:12919146 PMID:12938099 PMID:12940920 PMID:12955726 PMID:14526128 PMID:14551163 PMID:14586256 PMID:14618962 PMID:14623323 PMID:14685259 PMID:14685937 PMID:14963811 PMID:14993601 PMID:14998948 PMID:15017334 PMID:15024729 PMID:15025720 PMID:15040442 PMID:15070876 PMID:15074370 PMID:15084222 PMID:15084988 PMID:15088804 PMID:15097853 PMID:15121783 PMID:15126740 PMID:15141088 PMID:15151509 PMID:15176679 PMID:15181619 PMID:15241793 PMID:15246977 PMID:15287992 PMID:15300780 PMID:15333598 PMID:15354332 PMID:15357566 PMID:15357568 PMID:15365999 PMID:15367919 PMID:15367921 PMID:15371902 PMID:15371903 PMID:15371907 PMID:15371908 PMID:15463888 PMID:15463898 PMID:15463907 PMID:15480987 PMID:15482777 PMID:15486385 PMID:15502086 PMID:15504721 PMID:15509635 PMID:15520400 PMID:15536480 PMID:15537723 PMID:15614862 PMID:15638824 PMID:15640323 PMID:15666307 PMID:15698945 PMID:15698946 PMID:15705292 PMID:15727251 PMID:15738290 PMID:15744523 PMID:15758663 PMID:15775704 PMID:15775760 PMID:15776432 PMID:15784035 PMID:15858154 PMID:15880796 PMID:15905293 PMID:15948195 PMID:15952991 PMID:15987793 PMID:15994263 PMID:16020494 PMID:16049310 PMID:16051530 PMID:16075239 PMID:16126774 PMID:16128988 PMID:16132229 PMID:16134171 PMID:16137181 PMID:16189704 PMID:16196493 PMID:16199547 PMID:16202790 PMID:16240056 PMID:16251901 PMID:16263954 PMID:16266832 PMID:16272798 PMID:16275171 PMID:16283068 PMID:16283887 PMID:16339147 PMID:16362824 PMID:16417523 PMID:16429425 PMID:16436643 PMID:16436646 PMID:16442101 PMID:16443646 PMID:16478680 PMID:16488363 PMID:16499810 PMID:16596947 PMID:16617247 PMID:16778407 PMID:16778595 PMID:16784904 PMID:16786510 PMID:16801189 PMID:16840743 PMID:16931591 PMID:16963320 PMID:16980811 PMID:17003641 PMID:17015492 PMID:17035430 PMID:17048214 PMID:17076271 PMID:17098482 PMID:17098864 PMID:17127107 PMID:17175965 PMID:17206681 PMID:17234733 PMID:17244607 PMID:17272608 PMID:17314234 PMID:17329263 PMID:17331079 PMID:17347447 PMID:17348320 PMID:17353351 PMID:17380060 PMID:17407485 PMID:17407489 PMID:17413420 PMID:17440499 PMID:17449517 PMID:17475917 PMID:17481968 PMID:17489851 PMID:17495464 PMID:17507277 PMID:17516627 PMID:17560176 PMID:17572159 PMID:17576681 PMID:17594398 PMID:17617039 PMID:17627383 PMID:17662673 PMID:17663888 PMID:17692578 PMID:17719933 PMID:17850636 PMID:17890437 PMID:17901983 PMID:17949679 PMID:17968991 PMID:17975025 PMID:18078365 PMID:18167357 PMID:18178635 PMID:18180206 PMID:18230692 PMID:18234567 PMID:18279436 PMID:18301294 PMID:18306312 PMID:18373402 PMID:18394117 PMID:18421494 PMID:18449561 PMID:18456578 PMID:18467194 PMID:18493878 PMID:18500736 PMID:18507830 PMID:18556774 PMID:18567645 PMID:18597042 PMID:18639722 PMID:18685558 PMID:18687795 PMID:18703181 PMID:18716917 PMID:18778819 PMID:18782298 PMID:18796364 PMID:18951463 PMID:19014055 PMID:19014821 PMID:19092437 PMID:19166122 PMID:19176844 PMID:19181743 PMID:19181854 PMID:19202204 PMID:19212293 PMID:19227414 PMID:19265749 PMID:19318035 PMID:19318346 PMID:19324992 PMID:19359498 PMID:19372188 PMID:19406970 PMID:19447078 PMID:19459534 PMID:19491324 PMID:19540513 PMID:19550280 PMID:19625452 PMID:19652440 PMID:19707853 PMID:19710401 PMID:19715466 PMID:19724303 PMID:19734299 PMID:19810821 PMID:19812525 PMID:19823873 PMID:19833837 PMID:19837664 PMID:19843100 PMID:19845690 PMID:19846789 PMID:19878303 PMID:19880712 PMID:19885835 PMID:19897426 PMID:19910374 PMID:19910674 PMID:19914431 PMID:19914443 PMID:19925455 PMID:20021716 PMID:20052365 PMID:20059485 PMID:20100616 PMID:20116881 PMID:20163773 PMID:20167849 PMID:20186691 PMID:20217271 PMID:20233062 PMID:20301295 PMID:20301428 PMID:20381036 PMID:20416310 PMID:20435887 PMID:20448091 PMID:20460946 PMID:20510657 PMID:20522854 PMID:20538955 PMID:20551465 PMID:20580320 PMID:20595578 PMID:20619026 PMID:20628052 PMID:20651897 PMID:20659818 PMID:20667826 PMID:20687163 PMID:20691141 PMID:20696241 PMID:20705837 PMID:20706124 PMID:20717170 PMID:20722470 PMID:20797923 PMID:20837875 PMID:20846557 PMID:20849526 PMID:20865572 PMID:20880762 PMID:20923678 PMID:20932301 PMID:20932506 PMID:20949073 PMID:20974851 PMID:20976528 PMID:20977904 PMID:21083385 PMID:21097845 PMID:21111762 PMID:21131649 PMID:21152102 PMID:21184098 PMID:21198395 PMID:21228398 PMID:21296036 PMID:21354377 PMID:21411740 PMID:21416780 PMID:21429822 PMID:21474639 PMID:21483833 PMID:21486785 PMID:21507732 PMID:21514289 PMID:21520337 PMID:21538969 PMID:21594800 PMID:21636331 PMID:21642448 PMID:21658649 PMID:21679131 PMID:21708286 PMID:21716075 PMID:21779199 PMID:21783433 PMID:21796730 PMID:21811577 PMID:21858268 PMID:21907281 PMID:21909392 PMID:21931512 PMID:21965669 PMID:21976147 PMID:21983488 PMID:21996038 PMID:21998193 PMID:22020151 PMID:22043142 PMID:22047557 PMID:22094894 PMID:22103471 PMID:22138447 PMID:22148899 PMID:22156145 PMID:22293084 PMID:22299590 PMID:22310382 PMID:22318583 PMID:22324837 PMID:22326559 PMID:22332135 PMID:22366207 PMID:22369017 PMID:22390181 PMID:22395041 PMID:22423042 PMID:22427236 PMID:22442927 PMID:22449949 PMID:22468138 PMID:22483971 PMID:22504961 PMID:22545782 PMID:22569626 PMID:22572128 PMID:22573477 PMID:22591852 PMID:22627569 PMID:22658665 PMID:22664493 PMID:22678879 PMID:22680785 PMID:22698459 PMID:22724884 PMID:22768251 PMID:22842702 PMID:22892530 PMID:22942289 PMID:22973227 PMID:22975760 PMID:22981120 PMID:22992668 PMID:22995991 PMID:22999299 PMID:23017188 PMID:23027855 PMID:23065710 PMID:23067305 PMID:23076339 PMID:23082198 PMID:23089694 PMID:23104983 PMID:23168765 PMID:23206872 PMID:23240968 PMID:23261175 PMID:23276700 PMID:23286748 PMID:23302613 PMID:23313410 PMID:23343000 PMID:23361109 PMID:23378603 PMID:23379606 PMID:23381846 PMID:23405520 PMID:23420618 PMID:23436935 PMID:23466340 PMID:23503723 PMID:23514810 PMID:23523379 PMID:23590265 PMID:23613805 PMID:23620589 PMID:23628510 PMID:23656801 PMID:23666117 PMID:23670503 PMID:23687349 PMID:23688510 PMID:23709221 PMID:23751316 PMID:23757359 PMID:23757361 PMID:23765052 PMID:23775370 PMID:23781395 PMID:23810505 PMID:23837941 PMID:23857699 PMID:23883480 PMID:23891399 PMID:23907436 PMID:23924900 PMID:23933162 PMID:23951356 PMID:23953609 PMID:23974870 PMID:24019231 PMID:24033266 PMID:24066763 PMID:24081349 PMID:24082139 PMID:24106596 PMID:24129438 PMID:24204751 PMID:24225052 PMID:24243928 PMID:24269240 PMID:24375076 PMID:24388274 PMID:24412276 PMID:24418186 PMID:24433235 PMID:24435787 PMID:24440181 PMID:24440239 PMID:24451227 PMID:24461666 PMID:24525081 PMID:24559724 PMID:24586523 PMID:24631642 PMID:24633926 PMID:24696795 PMID:24697796 PMID:24727426 PMID:24762087 PMID:24784896 PMID:24813944 PMID:24816901 PMID:24958810 PMID:24973281 PMID:25024266 PMID:25033378 PMID:25042876 PMID:25049054 PMID:25060775 PMID:25066652 PMID:25077647 PMID:25087612 PMID:25122143 PMID:25133958 PMID:25145599 PMID:25148434 PMID:25171465 PMID:25192979 PMID:25203624 PMID:25251442 PMID:25266159 PMID:25274949 PMID:25287046 PMID:25304080 PMID:25311995 PMID:25326635 PMID:25330774 PMID:25333069 PMID:25363320 PMID:25383785 PMID:25443471 PMID:25452595 PMID:25473543 PMID:25489051 PMID:25492507 PMID:25525159 PMID:25553309 PMID:25580864 PMID:25583415 PMID:25608981 PMID:25636364 PMID:25651269 PMID:25667564 PMID:25674778 PMID:25682022 PMID:25688174 PMID:25697318 PMID:25697321 PMID:25698453 PMID:25704068 PMID:25732475 PMID:25735457 PMID:25741868 PMID:25741869 PMID:25755212 PMID:25763566 PMID:25781545 PMID:25797027 PMID:25799511 PMID:25824995 PMID:25826586 PMID:25867140 PMID:25869325 PMID:25880441 PMID:25900089 PMID:25905921 PMID:25910067 PMID:25940043 PMID:25963003 PMID:25981758 PMID:26003066 PMID:26006199 PMID:26014425 PMID:26070913 PMID:26075213 PMID:26087176 PMID:26095523 PMID:26098992 PMID:26135562 PMID:26146130 PMID:26149808 PMID:26160248 PMID:26182300 PMID:26199320 PMID:26208274 PMID:26277102 PMID:26282188 PMID:26324139 PMID:26348465 PMID:26354092 PMID:26364555 PMID:26429520 PMID:26436105 PMID:26437683 PMID:26467025 PMID:26471113 PMID:26474553 PMID:26493493 PMID:26494713 PMID:26500004 PMID:26526220 PMID:26553470 PMID:26568242 PMID:26574590 PMID:26581802 PMID:26618866 PMID:26627831 PMID:26631874 PMID:26648081 PMID:26651825 PMID:26683699 PMID:26708955 PMID:26755536 PMID:26795017 PMID:26800689 PMID:26823392 PMID:26826884 PMID:26846474 PMID:26847993 PMID:26856987 PMID:26900683 PMID:26911355 PMID:26946416 PMID:26948992 PMID:26976279 PMID:26989879 PMID:26990548 PMID:27022295 PMID:27026144 PMID:27081564 PMID:27086061 PMID:27143075 PMID:27145507 PMID:27158673 PMID:27171515 PMID:27174726 PMID:27209008 PMID:27214204 PMID:27222777 PMID:27264265 PMID:27298017 PMID:27334259 PMID:27347467 PMID:27364092 PMID:27447098 PMID:27449771 PMID:27469177 PMID:27577878 PMID:27625827 PMID:27659740 PMID:27660821 PMID:27665964 PMID:27673710 PMID:27707539 PMID:27728908 PMID:27738188 PMID:27745802 PMID:27773592 PMID:27805836 PMID:27812499 PMID:27837951 PMID:27870577 PMID:27895116 PMID:27898234 PMID:27917292 PMID:28027573 PMID:28040058 PMID:28129809 PMID:28152038 PMID:28163942 PMID:28185838 PMID:28194692 PMID:28196530 PMID:28261631 PMID:28325531 PMID:28366727 PMID:28371569 PMID:28392015 PMID:28408918 PMID:28419121 PMID:28440306 PMID:28456595 PMID:28465863 PMID:28492530 PMID:28492532 PMID:28502372 PMID:28544683 PMID:28546993 PMID:28603918 PMID:28606620 PMID:28608624 PMID:28611235 PMID:28617084 PMID:28646244 PMID:28651844 PMID:28655774 PMID:28711222 PMID:28736296 PMID:28771972 PMID:28785019 PMID:28800122 PMID:28801929 PMID:28830496 PMID:28863137 PMID:28930490 PMID:28944235 PMID:28947035 PMID:28968805 PMID:29040544 PMID:29099333 PMID:29099344 PMID:29126871 PMID:29133775 PMID:29168366 PMID:29173301 PMID:29174009 PMID:29178639 PMID:29208182 PMID:29216686 PMID:29261177 PMID:29271547 PMID:29279204 PMID:29292091 PMID:29298718 PMID:29327948 PMID:29360847 PMID:29431110 PMID:29451946 PMID:29484681 PMID:29497617 PMID:29503250 PMID:29504914 PMID:29520692 PMID:29581173 PMID:29589582 PMID:29590070 PMID:29614238 PMID:29668297 PMID:29669919 PMID:29685811 PMID:29750258 PMID:29754320 PMID:29779145 PMID:29805046 PMID:29807875 PMID:29859674 PMID:29884450 PMID:29924856 PMID:29936070 PMID:29944384 PMID:29983195 PMID:29997923 PMID:30019023 PMID:30030066 PMID:30046002 PMID:30081288 PMID:30089726 PMID:30134826 PMID:30146269 PMID:30230364 PMID:30232781 PMID:30244528 PMID:30279124 PMID:30293248 PMID:30297908 PMID:30348612 PMID:30389601 PMID:30420730 PMID:30444886 PMID:30487145 PMID:30488522 PMID:30540547 PMID:30548586 PMID:30561903 PMID:30592194 PMID:30600599 PMID:30602999 PMID:30606298 PMID:30609409 PMID:30698611 PMID:30726326 PMID:30758641 PMID:30760291 PMID:30763667 PMID:30811104 PMID:30842938 PMID:30845638 PMID:30851139 PMID:30873022 PMID:30888834 PMID:30930780 PMID:30938940 PMID:30992994 PMID:30993151 PMID:30996306 PMID:31005549 PMID:31016917 PMID:31019283 PMID:31028937 PMID:31029283 PMID:31036917 PMID:31118044 PMID:31126253 PMID:31130284 PMID:31180159 PMID:31187952 PMID:31199594 PMID:31213628 PMID:31245908 PMID:31268981 PMID:31310009 PMID:31328366 PMID:31331863 PMID:31350925 PMID:31447099 PMID:31450232 PMID:31508243 PMID:31523618 PMID:31589614 PMID:31655510 PMID:31665830 PMID:31672438 PMID:31674704 PMID:31682332 PMID:31740593 PMID:31759907 PMID:31776420 PMID:31788264 PMID:31788424 PMID:31808782 PMID:31845523 PMID:31872980 PMID:31883651 PMID:31900120 PMID:31916691 PMID:31978131 PMID:31980526 PMID:31990467 PMID:32003480 PMID:32020786 PMID:32113160 PMID:32126153 PMID:32150665 PMID:32172930 PMID:32204475 PMID:32220772 PMID:32265312 PMID:32281737 PMID:32357917 PMID:32414100 PMID:32429104 PMID:32483343 PMID:32484936 PMID:32512765 PMID:32539862 PMID:32662942 PMID:32674983 PMID:32687833 PMID:32734384 PMID:32761997 PMID:32773111 PMID:32777524 PMID:32784480 PMID:32819855 PMID:32906206 PMID:32934006 PMID:32935393 PMID:33020115 PMID:33083013 PMID:33097431 PMID:33118704 PMID:33144682 PMID:33195651 PMID:33260873 PMID:33270637 PMID:33296276 PMID:33322690 PMID:33341408 PMID:33365035 PMID:33374015 PMID:33375403 PMID:33393655 PMID:33424627 PMID:33468668 PMID:33470563 PMID:33495079 PMID:33512069 PMID:33567498 PMID:33572515 PMID:33574797 PMID:33613790 PMID:33686728 PMID:33713579 PMID:33771570 PMID:33781744 PMID:33836782 PMID:33855558 PMID:33883100 PMID:33922413 PMID:33946859 PMID:33972190 PMID:34086689 PMID:34099697 PMID:34134972 PMID:34140271 PMID:34145097 PMID:34163370 PMID:34190021 PMID:34196078 PMID:34405919 PMID:34426522 PMID:34442373 PMID:34525262 PMID:34583889 PMID:34740355 PMID:34764021 PMID:34782259 PMID:34814176 PMID:34860163 PMID:34888852 PMID:34949556 PMID:34974990 PMID:34996830 PMID:35008443 PMID:35109852 PMID:35273129 PMID:35313924 PMID:35418593 PMID:35451201 PMID:35527187 PMID:35585144 PMID:35626323 PMID:35652053 PMID:35698092 PMID:35816621 PMID:35913788 PMID:35934641 PMID:35997436 PMID:36207272 PMID:36249513 PMID:36264955 PMID:36272381 PMID:36319933 PMID:36409994 PMID:36437957 PMID:36458240 PMID:36567205 PMID:36670555 PMID:36717774 PMID:36751320 PMID:36828084 PMID:63921865 More...
NCBI chr 4:46,561,269...46,728,759
Ensembl chr 4:46,560,885...46,728,756
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
G
Bcl2
BCL2, apoptosis regulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20610805
NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743 Ensembl chr13:22,684,989...22,853,743
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
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 chr14:2,387,372...2,445,857
Ensembl chr14:2,387,796...2,445,842
G
Bscl2
BSCL2 lipid droplet biogenesis associated, seipin
IMP
RGD
PMID:25934999
RGD:11085488
NCBI chr 1:205,731,828...205,743,430
Ensembl chr 1:205,733,872...205,743,421
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 ClinVar Annotator: match by term: Obstructive azoospermia
CTD ClinVar
PMID:1283148 PMID:1284534 PMID:1284535 PMID:1284639 PMID:1370875 PMID:1377276 PMID:1379210 PMID:1379413 PMID:1380673 PMID:1381146 PMID:1381723 PMID:1384321 PMID:1384326 PMID:1536179 PMID:1673094 PMID:1695717 PMID:1715308 PMID:1723032 PMID:1756602 PMID:1937486 PMID:1977306 PMID:1997384 PMID:2210767 PMID:2220803 PMID:2233932 PMID:2236053 PMID:2300168 PMID:2344617 PMID:2349952 PMID:2378364 PMID:2475911 PMID:2570460 PMID:7506096 PMID:7508183 PMID:7508414 PMID:7509683 PMID:7512860 PMID:7517267 PMID:7522329 PMID:7524913 PMID:7529319 PMID:7533604 PMID:7537148 PMID:7539342 PMID:7540133 PMID:7544320 PMID:7544788 PMID:7560099 PMID:7573058 PMID:7586569 PMID:7599637 PMID:7680769 PMID:7682884 PMID:7683628 PMID:7684641 PMID:7684646 PMID:7686336 PMID:7689013 PMID:7691345 PMID:7691356 PMID:7691813 PMID:7692051 PMID:7739684 PMID:7789957 PMID:8092189 PMID:8421472 PMID:8556303 PMID:8605891 PMID:8659542 PMID:8662892 PMID:8698344 PMID:8702904 PMID:8740923 PMID:8825927 PMID:8844211 PMID:8886242 PMID:8956039 PMID:8968585 PMID:9108869 PMID:9135274 PMID:9235853 PMID:9259194 PMID:9259197 PMID:9272157 PMID:9272738 PMID:9435322 PMID:9439669 PMID:9459534 PMID:9493456 PMID:9536098 PMID:9550361 PMID:9557894 PMID:9618063 PMID:9725922 PMID:9788722 PMID:9804160 PMID:9921909 PMID:9950763 PMID:10103316 PMID:10341008 PMID:10425036 PMID:10556281 PMID:10571949 PMID:10601093 PMID:10653141 PMID:10668931 PMID:10746558 PMID:10782933 PMID:10801389 PMID:10812063 PMID:10856487 PMID:10869121 PMID:10875853 PMID:10909845 PMID:10923036 PMID:10950058 PMID:10963013 PMID:11069835 PMID:11168024 PMID:11180668 PMID:11186891 PMID:11242048 PMID:11280952 PMID:11303517 PMID:11354633 PMID:11484207 PMID:11491164 PMID:11504857 PMID:11547256 PMID:11729110 PMID:11733566 PMID:11737931 PMID:11746017 PMID:11788090 PMID:11883825 PMID:11924117 PMID:12007216 PMID:12014388 PMID:12124706 PMID:12133923 PMID:12167682 PMID:12400067 PMID:12767731 PMID:12955726 PMID:14618962 PMID:14685937 PMID:14963811 PMID:14993601 PMID:15070876 PMID:15097853 PMID:15141088 PMID:15246977 PMID:15365999 PMID:15367919 PMID:15371902 PMID:15482777 PMID:15486385 PMID:15536480 PMID:15618592 PMID:15619635 PMID:15640323 PMID:15727251 PMID:15775704 PMID:15857421 PMID:15858154 PMID:15880796 PMID:15905293 PMID:15952991 PMID:15987793 PMID:16020494 PMID:16049310 PMID:16075239 PMID:16126774 PMID:16134171 PMID:16189704 PMID:16263954 PMID:16266832 PMID:16283887 PMID:16429425 PMID:16436643 PMID:16478680 PMID:16481891 PMID:16484308 PMID:16778595 PMID:16801189 PMID:16840743 PMID:17003641 PMID:17015492 PMID:17035430 PMID:17048214 PMID:17175965 PMID:17206681 PMID:17314234 PMID:17329263 PMID:17407485 PMID:17413420 PMID:17489851 PMID:17572159 PMID:17576681 PMID:17594397 PMID:17594398 PMID:17617039 PMID:17627383 PMID:17662673 PMID:17681820 PMID:17692578 PMID:17719933 PMID:18078365 PMID:18178635 PMID:18180206 PMID:18234567 PMID:18301294 PMID:18394117 PMID:18456578 PMID:18467194 PMID:18501000 PMID:18507830 PMID:18567645 PMID:18685558 PMID:18687795 PMID:18778819 PMID:18796364 PMID:18951463 PMID:19014055 PMID:19092437 PMID:19092444 PMID:19176844 PMID:19202204 PMID:19212293 PMID:19227414 PMID:19318035 PMID:19406970 PMID:19459534 PMID:19707853 PMID:19812525 PMID:19833837 PMID:19837664 PMID:19843100 PMID:19878303 PMID:19880712 PMID:19885835 PMID:19897426 PMID:19925455 PMID:20021716 PMID:20059485 PMID:20116881 PMID:20301295 PMID:20301428 PMID:20460946 PMID:20580320 PMID:20595578 PMID:20619026 PMID:20628052 PMID:20667826 PMID:20687163 PMID:20691141 PMID:20696241 PMID:20705837 PMID:20706124 PMID:20717170 PMID:20797923 PMID:20837875 PMID:20849526 PMID:20923678 PMID:20977904 PMID:21097845 PMID:21111762 PMID:21131649 PMID:21152102 PMID:21198395 PMID:21228398 PMID:21296036 PMID:21411740 PMID:21416780 PMID:21486785 PMID:21507732 PMID:21520337 PMID:21538969 PMID:21594800 PMID:21658649 PMID:21679131 PMID:21804385 PMID:21907281 PMID:21965669 PMID:21976147 PMID:21983488 PMID:22020151 PMID:22156145 PMID:22310382 PMID:22332135 PMID:22366207 PMID:22369017 PMID:22390181 PMID:22427236 PMID:22449949 PMID:22569626 PMID:22572128 PMID:22591852 PMID:22658665 PMID:22664493 PMID:22680785 PMID:22842702 PMID:22975760 PMID:22981120 PMID:22992668 PMID:22999299 PMID:23067305 PMID:23082198 PMID:23104983 PMID:23168765 PMID:23361109 PMID:23378603 PMID:23379606 PMID:23381846 PMID:23420618 PMID:23436935 PMID:23613805 PMID:23656801 PMID:23716676 PMID:23721890 PMID:23751316 PMID:23781395 PMID:23810505 PMID:23846440 PMID:23857699 PMID:23883480 PMID:23891399 PMID:23907436 PMID:23951356 PMID:23974870 PMID:24033266 PMID:24082139 PMID:24106596 PMID:24375076 PMID:24418186 PMID:24419263 PMID:24433235 PMID:24435787 PMID:24440181 PMID:24451227 PMID:24559724 PMID:24586523 PMID:24631642 PMID:24696795 PMID:24727426 PMID:24958810 PMID:24973281 PMID:25033378 PMID:25042876 PMID:25087612 PMID:25148434 PMID:25251442 PMID:25287046 PMID:25304080 PMID:25330774 PMID:25583415 PMID:25608981 PMID:25636364 PMID:25697321 PMID:25698453 PMID:25735457 PMID:25741868 PMID:25741869 PMID:25763566 PMID:25797027 PMID:25799511 PMID:25824995 PMID:25826586 PMID:25910067 PMID:25981758 PMID:26006199 PMID:26014425 PMID:26070913 PMID:26095523 PMID:26149808 PMID:26277102 PMID:26324139 PMID:26467025 PMID:26526220 PMID:26538069 PMID:26574590 PMID:26581802 PMID:26618866 PMID:26627831 PMID:26648081 PMID:26708955 PMID:26755536 PMID:26800689 PMID:26846474 PMID:26900683 PMID:26911355 PMID:26976279 PMID:26989879 PMID:26990548 PMID:27022295 PMID:27086061 PMID:27171515 PMID:27209008 PMID:27214204 PMID:27298017 PMID:27334259 PMID:27364092 PMID:27447098 PMID:27469177 PMID:27577878 PMID:27659740 PMID:27660821 PMID:27673710 PMID:27738188 PMID:27805836 PMID:27898234 PMID:28129809 PMID:28325531 PMID:28419121 PMID:28456595 PMID:28492530 PMID:28492532 PMID:28544683 PMID:28546993 PMID:28603918 PMID:28606620 PMID:28617084 PMID:28655774 PMID:28736296 PMID:28801929 PMID:28930490 PMID:28968805 PMID:29099333 PMID:29099344 PMID:29126871 PMID:29261177 PMID:29327948 PMID:29431110 PMID:29451946 PMID:29504914 PMID:29589582 PMID:29614238 PMID:29668297 PMID:29805046 PMID:29936070 PMID:29944384 PMID:30030066 PMID:30046002 PMID:30089726 PMID:30279124 PMID:30487145 PMID:30561903 PMID:30600599 PMID:30602999 PMID:30609409 PMID:30888834 PMID:30930780 PMID:30938940 PMID:31019283 PMID:31028937 PMID:31036917 PMID:31126253 PMID:31130284 PMID:31187952 PMID:31199594 PMID:31213628 PMID:31310009 PMID:31447099 PMID:31523618 PMID:31589614 PMID:31655510 PMID:31776420 PMID:31788424 PMID:31808782 PMID:31980526 PMID:32414100 PMID:32429104 PMID:32761997 PMID:32935393 PMID:33020115 PMID:33083013 PMID:33118704 PMID:33144682 PMID:33270637 PMID:33365035 PMID:33374015 PMID:33572515 PMID:33574797 PMID:33713579 PMID:33972190 PMID:34190021 PMID:34196078 PMID:34405919 PMID:34426522 PMID:34782259 PMID:34996830 PMID:35690514 PMID:36272381 More...
NCBI chr 4:46,561,269...46,728,759
Ensembl chr 4:46,560,885...46,728,756
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Ddx25
DEAD-box helicase 25
ISO
ClinVar Annotator: match by term: Azoospermia
ClinVar
NCBI chr 8:33,894,224...33,910,377
Ensembl chr 8:33,894,232...33,921,764
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Dmc1
DNA meiotic recombinase 1
ISO
ClinVar Annotator: match by term: Azoospermia
ClinVar
NCBI chr 7:111,124,888...111,167,465
Ensembl chr 7:111,124,888...111,167,952
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Epas1
endothelial PAS domain protein 1
ISO
RGD
PMID:14608355
RGD:734934
NCBI chr 6:7,790,236...7,871,717
Ensembl chr 6:7,790,647...7,871,228
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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
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Fahd1
fumarylacetoacetate hydrolase domain containing 1
ISO
ClinVar Annotator: match by term: Azoospermia
ClinVar
NCBI chr10:13,873,539...13,874,978
Ensembl chr10:13,873,527...13,875,012
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Fancm
FA complementation group M
ISO
ClinVar Annotator: match by term: Azoospermia
ClinVar
PMID:17289582 PMID:18174376 PMID:19379763 PMID:23409019 PMID:23932590 PMID:24003026 PMID:25741868 PMID:26130695 PMID:26467025 PMID:28492532 PMID:28591191 PMID:28702895 PMID:28837162 PMID:29287190 PMID:30075111 PMID:30426508 PMID:30927251 PMID:31700994 PMID:31991861 PMID:32235514 PMID:33118316 PMID:33471991 PMID:34117267 More...
NCBI chr 6:83,126,903...83,180,455
Ensembl chr 6:83,127,093...83,180,028
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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...31,776,904
Ensembl chr20:31,727,620...31,776,903
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Henmt1
HEN methyltransferase 1
ISO
ClinVar Annotator: match by term: Azoospermia
ClinVar
NCBI chr 2:196,585,732...196,603,700
Ensembl chr 2:196,586,797...196,599,738
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Hfm1
helicase for meiosis 1
ISO
ClinVar Annotator: match by term: Azoospermia
ClinVar
NCBI chr14:2,857,251...2,943,766
Ensembl chr14:2,856,599...2,939,238
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Hsd17b10
hydroxysteroid (17-beta) dehydrogenase 10
ISO
mRNA:increased expression:testis
RGD
PMID:9851691
RGD:13792783
NCBI chr X:21,089,142...21,091,603
Ensembl chr X:21,089,122...21,109,488
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Kash5
KASH domain containing 5
ISO
ClinVar Annotator: match by term: Azoospermia
ClinVar
NCBI chr 1:95,668,918...95,691,353
Ensembl chr 1:95,668,886...95,691,368
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Mcm8
minichromosome maintenance 8 homologous recombination repair factor
ISO
ClinVar Annotator: match by term: Azoospermia
ClinVar
NCBI chr 3:120,086,741...120,117,008
Ensembl chr 3:120,086,763...120,117,008
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Mcmdc2
minichromosome maintenance domain containing 2
ISO
ClinVar Annotator: match by term: Azoospermia
ClinVar
NCBI chr 5:9,291,967...9,337,526
Ensembl chr 5:9,298,101...9,338,300
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Meiob
meiosis specific with OB-fold
ISO
ClinVar Annotator: match by term: Azoospermia
ClinVar
NCBI chr10:13,833,170...13,865,684
Ensembl chr10:13,833,750...13,865,046
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Mov10l1
Mov10 like RNA helicase 1
ISO
ClinVar Annotator: match by term: Azoospermia
ClinVar
NCBI chr 7:120,070,171...120,135,406
Ensembl chr 7:120,070,135...120,134,765
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Msh5
mutS homolog 5
ISO
ClinVar Annotator: match by term: Azoospermia
ClinVar
NCBI chr20:3,773,867...3,793,337
Ensembl chr20:3,776,942...3,793,336
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Pdha2
pyruvate dehydrogenase E1 subunit alpha 2
ISO
ClinVar Annotator: match by term: Azoospermia
ClinVar
PMID:29581481 PMID:35172124
NCBI chr 2:229,872,300...229,873,848
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Rec8
REC8 meiotic recombination protein
ISO
ClinVar Annotator: match by term: Azoospermia
ClinVar
NCBI chr15:29,109,862...29,117,327
Ensembl chr15:29,109,863...29,117,326
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Six6os1
Six6 opposite strand transcript 1
ISO
ClinVar Annotator: match by term: Azoospermia
ClinVar
PMID:33508233
NCBI chr 6:91,579,185...91,615,183
Ensembl chr 6:91,579,325...91,615,148
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Sycp3
synaptonemal complex protein 3
ISO ISS
CTD Direct Evidence: marker/mechanism
CTD MouseDO
PMID:14643120
NCBI chr 7:22,874,055...22,888,512
Ensembl chr 7:22,874,055...22,888,511
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Tdrd9
tudor domain containing 9
ISO
ClinVar Annotator: match by term: Azoospermia
ClinVar
NCBI chr 6:131,029,644...131,145,076
Ensembl chr 6:131,029,652...131,144,651
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Tdrkh
tudor and KH domain containing
ISO
ClinVar Annotator: match by term: Azoospermia
ClinVar
NCBI chr 2:182,049,175...182,071,516
Ensembl chr 2:182,049,215...182,070,755
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Terb1
telomere repeat binding bouquet formation protein 1
ISO
ClinVar Annotator: match by term: Azoospermia
ClinVar
NCBI chr19:473,720...528,069
Ensembl chr19:473,218...528,084
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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
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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
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Cftr
CF transmembrane conductance regulator
ISO IMP
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Congenital bilateral absence of the vas deferens | ClinVar Annotator: match by term: Congenital bilateral absence of vas deferens associated with Cystic Fibrosis DNA:deletion, missense mutations: :multiple DNA:deletion, nonsense mutations, missense mutations: :multiple
CTD ClinVar RGD
PMID:1381723 PMID:2344617 PMID:7506096 PMID:7539342 PMID:7573058 PMID:7684641 PMID:7684646 PMID:7691356 PMID:7739684 PMID:8530001 PMID:8556303 PMID:8662892 PMID:9435322 PMID:10103316 PMID:10556281 PMID:10668931 PMID:10762539 PMID:10875853 PMID:10923036 PMID:11069835 PMID:11101688 PMID:11119745 PMID:11354633 PMID:11491164 PMID:11729110 PMID:12167682 PMID:12815607 PMID:12955726 PMID:14685937 PMID:14993601 PMID:15070876 PMID:15371902 PMID:15905293 PMID:16020494 PMID:16189704 PMID:16263954 PMID:16778595 PMID:16840743 PMID:17314234 PMID:17329263 PMID:17331079 PMID:17489851 PMID:18456578 PMID:18507830 PMID:18567645 PMID:18685558 PMID:18951463 PMID:19092437 PMID:20301428 PMID:20460946 PMID:20691141 PMID:20837875 PMID:20880762 PMID:21228398 PMID:21520337 PMID:21658649 PMID:22842702 PMID:22992668 PMID:23810505 PMID:23891399 PMID:23974870 PMID:24033266 PMID:25087612 PMID:25251442 PMID:25741868 PMID:26014425 PMID:26467025 PMID:26708955 PMID:27171515 PMID:27447098 PMID:27469177 PMID:28492532 PMID:28603918 PMID:28800122 PMID:30873022 PMID:31268981 PMID:33374015 PMID:34196078 PMID:24608905 PMID:10653141 PMID:11119745 More...
RGD:11566051 , RGD:11566040 , RGD:11566027
NCBI chr 4:46,561,269...46,728,759
Ensembl chr 4:46,560,885...46,728,756
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Cftrem1Sage
cystic fibrosis transmembrane conductance regulator; ZFN induced mutant 1 Sage
IMP
RGD
PMID:24608905
RGD:11566051
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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
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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
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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
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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
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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
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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
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Ahr
aryl hydrocarbon receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36029422
NCBI chr 6:52,234,089...52,271,568
Ensembl chr 6:52,234,089...52,271,568
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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
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Bmal1
basic helix-loop-helix ARNT like 1
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
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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
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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
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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
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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
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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
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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
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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
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Cyp19a1
cytochrome P450, family 19, subfamily a, polypeptide 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:14684609
NCBI chr 8:54,552,978...54,580,375
Ensembl chr 8:54,553,165...54,580,758
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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
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Dnmt3b
DNA methyltransferase 3 beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34773530
NCBI chr 3:142,130,588...142,169,128
Ensembl chr 3:142,130,592...142,169,124
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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
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Esr2
estrogen receptor 2
ISO IMP
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:23710174 PMID:28520870
RGD:38548924
NCBI chr 6:94,858,438...94,909,630
Ensembl chr 6:94,809,547...94,908,919
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Esr2em1Soar
estrogen receptor 2; ZFN induced mutant 1, Soar
IMP
RGD
PMID:28520870
RGD:38548924
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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
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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
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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
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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
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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
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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
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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
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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
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
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
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
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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
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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
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
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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
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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
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
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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
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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
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Pappa
pappalysin
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
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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
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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
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Rnf212b
ring finger protein 212B
ISO
ClinVar Annotator: match by term: Female infertility
ClinVar
PMID:25741868
NCBI chr15:28,274,629...28,321,093
Ensembl chr15:28,244,083...28,321,347
G
Smo
smoothened, frizzled class receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28560483
NCBI chr 4:58,343,626...58,373,823
Ensembl chr 4:58,343,529...58,373,829
G
Stag3
STAG3 cohesin complex component
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
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
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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
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Fshb
follicle stimulating hormone subunit beta
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 24 without anosmia
OMIM CTD ClinVar
PMID:4344039 PMID:8220432 PMID:9271483 PMID:9280841 PMID:9624193 PMID:9806482 PMID:12161499 PMID:20488225 PMID:22791757 PMID:25052309 PMID:25741868 PMID:28392474 PMID:28492532 PMID:32242295 More...
NCBI chr 3:93,548,560...93,552,370
Ensembl chr 3:93,548,560...93,552,370
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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
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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
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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
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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
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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
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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
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Aldh2
aldehyde dehydrogenase 2 family member
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24448831
NCBI chr12:34,949,549...34,982,527
Ensembl chr12:34,901,219...34,982,521
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Ar
androgen receptor
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Male infertility
CTD ClinVar
PMID:1307250 PMID:1430233 PMID:7581399 PMID:7671849 PMID:8097257 PMID:8628719 PMID:8723113 PMID:8824883 PMID:9851768 PMID:9921903 PMID:10946887 PMID:12220434 PMID:16804045 PMID:17970778 PMID:18554162 PMID:20164437 PMID:23637914 PMID:24033266 PMID:24321103 PMID:24737579 PMID:25741868 PMID:27899157 PMID:28492532 PMID:28611373 PMID:28659371 PMID:29237170 PMID:36572623 More...
NCBI chr X:63,104,771...63,273,934
Ensembl chr X:63,104,771...63,273,925
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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
G
Armc2
armadillo repeat containing 2
ISS
MouseDO
NCBI chr20:45,395,859...45,501,808
Ensembl chr20:45,394,127...45,504,819
G
Aurkc
aurora kinase C
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17435757
NCBI chr 1:66,843,653...66,849,775
Ensembl chr 1:66,843,653...66,864,386
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Bax
BCL2 associated X, apoptosis regulator
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:24723216 PMID:7569956
RGD:734632
NCBI chr 1:95,940,001...95,945,407
Ensembl chr 1:95,938,808...95,945,368
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Bcl2
BCL2, apoptosis regulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24723216
NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743 Ensembl chr13:22,684,989...22,853,743
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Brwd1
bromodomain and WD repeat domain containing 1
ISO
ClinVar Annotator: match by term: Male infertility
ClinVar
PMID:33389130
NCBI chr11:35,286,364...35,378,768
Ensembl chr11:35,288,313...35,378,768
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Bscl2
BSCL2 lipid droplet biogenesis associated, seipin
ISS
MouseDO
NCBI chr 1:205,731,828...205,743,430
Ensembl chr 1:205,733,872...205,743,421
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
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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
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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
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
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
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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
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Ccdc146
coiled-coil domain containing 146
ISS
MouseDO
NCBI chr 4:13,662,766...13,811,619
Ensembl chr 4:13,662,766...13,811,608
G
Ccdc40
coiled-coil domain 40 molecular ruler complex subunit
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
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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
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
G
Cfap57
cilia and flagella associated protein 57
ISS
MouseDO
NCBI chr 5:132,074,404...132,148,102
Ensembl chr 5:132,074,395...132,148,462
G
Cftr
CF transmembrane conductance regulator
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Male infertility
CTD ClinVar
PMID:7586569 PMID:7739684 PMID:9804160 PMID:11180668 PMID:11547256 PMID:11883825 PMID:12124706 PMID:15070876 PMID:15858154 PMID:15952991 PMID:15987793 PMID:16429425 PMID:17003641 PMID:17594398 PMID:17617039 PMID:17823699 PMID:18301294 PMID:18456578 PMID:18554162 PMID:19014055 PMID:19212293 PMID:19843100 PMID:20021716 PMID:20460946 PMID:21416780 PMID:21520337 PMID:21679131 PMID:22020151 PMID:22156145 PMID:22310382 PMID:22975760 PMID:22992668 PMID:23082198 PMID:23891399 PMID:23951356 PMID:23974870 PMID:24082139 PMID:25033378 PMID:25087612 PMID:25304080 PMID:25583415 PMID:25741868 PMID:25910067 PMID:26467025 PMID:26526220 PMID:26755536 PMID:26990548 PMID:27086061 PMID:27171515 PMID:27214204 PMID:27469177 PMID:27659740 PMID:27738188 PMID:28129809 PMID:28492532 PMID:28544683 PMID:28603918 PMID:31036917 PMID:32414100 PMID:33574797 PMID:34190021 PMID:34426522 More...
NCBI chr 4:46,561,269...46,728,759
Ensembl chr 4:46,560,885...46,728,756
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Chek1
checkpoint kinase 1
ISO
ClinVar Annotator: match by term: Male infertility due to gonadal dysgenesis or sperm disorder
ClinVar
PMID:25741868
NCBI chr 8:36,420,565...36,443,477
Ensembl chr 8:36,420,569...36,441,009
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
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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
G
Cntrobhd
centrobin, centriole duplication and spindle assembly protein; hypodacty mutant
IGI
RGD
PMID:19710508
RGD:150521555
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
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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
G
Cylc1
cylicin 1
ISS
MouseDO
NCBI chr X:76,108,111...76,197,431
Ensembl chr X:76,108,136...76,197,422
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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
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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
G
Dcaf6
DDB1 and CUL4 associated factor 6
ISO
ClinVar Annotator: match by term: Male infertility
ClinVar
NCBI chr13:77,626,257...77,727,645
Ensembl chr13:77,626,307...77,727,512
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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
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Dnaaf5
dynein, axonemal, assembly factor 5
ISS
MouseDO
NCBI chr12:15,453,636...15,492,722
Ensembl chr12:15,453,636...15,492,739
G
Dnah10
dynein, axonemal, heavy chain 10
ISO
ClinVar Annotator: match by term: Male infertility
ClinVar
NCBI chr12:31,823,451...31,946,857
Ensembl chr12:31,822,733...32,007,069
G
Dnah11
dynein, axonemal, heavy chain 11
ISO
ClinVar Annotator: match by term: Male infertility
ClinVar
PMID:22184204 PMID:25741868
NCBI chr 6:138,839,175...139,155,554
Ensembl chr 6:138,839,177...139,155,536
G
Dnah5
dynein, axonemal, heavy chain 5
ISO
ClinVar Annotator: match by term: Male infertility
ClinVar
PMID:11788826 PMID:16627867 PMID:19357118 PMID:25741868 PMID:28492532 PMID:33574797 More...
NCBI chr 2:78,937,788...79,255,551
Ensembl chr 2:78,937,800...79,254,890
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
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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
G
Elovl2
ELOVL fatty acid elongase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21106902
NCBI chr17:23,544,598...23,584,855
Ensembl chr17:23,544,568...23,584,848
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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
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
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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
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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
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Fkbp6
FKBP prolyl isomerase family member 6
ISO IAGP
ClinVar Annotator: match by term: Male infertility DNA:deletion:exon (rat)
ClinVar RGD
PMID:25741868 PMID:36150389 PMID:12764197 PMID:12764197
RGD:1582485 , RGD:1582485
NCBI chr12:21,318,251...21,390,350
Ensembl chr12:21,319,568...21,390,350
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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
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
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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
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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
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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
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Gpx3
glutathione peroxidase 3
treatment
IEP
RGD
PMID:37260555
RGD:401827915
NCBI chr10:39,028,624...39,036,695
Ensembl chr10:39,028,570...39,037,035
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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
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Hormad1
HORMA domain containing 1
ISO
ClinVar Annotator: match by term: Male infertility
ClinVar
PMID:25741868
NCBI chr 2:183,115,815...183,152,383
Ensembl chr 2:183,116,716...183,152,383
G
Hoxd11
homeobox D11
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:7925020
NCBI chr 3:59,584,840...59,587,257
Ensembl chr 3:59,585,039...59,586,783
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Kif7
kinesin family member 7
ISO
ClinVar Annotator: match by term: Male infertility due to gonadal dysgenesis or sperm disorder
ClinVar
PMID:25741868 PMID:28492532 PMID:29286531
NCBI chr 1:133,639,487...133,658,539
Ensembl chr 1:133,640,065...133,658,576
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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
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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
G
Klk4
kallikrein-related peptidase 4
ISO
ClinVar Annotator: match by term: Male infertility
ClinVar
NCBI chr 1:94,344,195...94,349,425
Ensembl chr 1:94,344,195...94,349,424
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
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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
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
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
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
G
Mthfr
methylenetetrahydrofolate reductase
susceptibility
ISO
CTD Direct Evidence: marker/mechanism :DNA:polymorphism: :677C>T(human)
CTD RGD
PMID:16861746 PMID:16247718
RGD:11565106
NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
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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
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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
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Myo6
myosin VI
ISO
ClinVar Annotator: match by term: Male infertility
ClinVar
PMID:9536098 PMID:17576681 PMID:24033266 PMID:25741868 PMID:28492532 PMID:30311386 More...
NCBI chr 8:81,087,157...81,242,022
Ensembl chr 8:81,087,139...81,239,292
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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
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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
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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
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Nr5a1
nuclear receptor subfamily 5, group A, member 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Male infertility
CTD ClinVar
PMID:17940071 PMID:20887963 PMID:25741868 PMID:25989977 PMID:28492532 PMID:29935645 PMID:30067310 PMID:32655042 PMID:35690514 PMID:36572623 More...
NCBI chr 3:22,464,786...22,486,328
Ensembl chr 3:22,465,502...22,486,328
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Nsun7
NOP2/Sun RNA methyltransferase family member 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17442852
NCBI chr14:41,878,562...41,935,238
Ensembl chr14:41,879,293...41,934,949
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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
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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
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Pmfbp1
polyamine modulated factor 1 binding protein 1
ISS
MouseDO
NCBI chr19:37,458,126...37,507,880
Ensembl chr19:37,458,108...37,507,879
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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
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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
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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
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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
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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
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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
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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
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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
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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
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Sos1
SOS Ras/Rac guanine nucleotide exchange factor 1
ISO
ClinVar Annotator: match by term: Male subfertility
ClinVar
PMID:21387466 PMID:22585553 PMID:24033266 PMID:24451042 PMID:24803665 PMID:25741868 PMID:28492532 PMID:29493581 PMID:30039904 PMID:30325180 PMID:30541462 PMID:31573083 PMID:32059087 PMID:33042901 More...
NCBI chr 6:14,533,870...14,613,348
Ensembl chr 6:14,533,360...14,611,107
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Sos2
SOS Ras/Rho guanine nucleotide exchange factor 2
ISO
ClinVar Annotator: match by term: Male infertility due to gonadal dysgenesis or sperm disorder
ClinVar
PMID:29493581
NCBI chr 6:88,042,966...88,156,140
Ensembl chr 6:88,042,966...88,156,692
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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
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Spata16
spermatogenesis associated 16
ISS
MouseDO
NCBI chr 2:109,485,287...109,865,665
Ensembl chr 2:109,485,274...109,865,659
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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
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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
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Tas1r3
taste 1 receptor member 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23818598
NCBI chr 5:166,468,703...166,472,759
Ensembl chr 5:166,469,589...166,472,742
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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
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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
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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
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Tsc22d3
TSC22 domain family, member 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22556341
NCBI chr X:104,217,898...104,277,886
Ensembl chr X:104,217,925...104,276,861
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Txndc8
thioredoxin domain containing 8
ISO
protein:increased expression:sperm (human)
RGD
PMID:15181017
RGD:1303999
NCBI chr 5:72,749,708...72,785,858
Ensembl chr 5:72,749,725...72,785,931
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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
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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
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Cntrob
centrobin, centriole duplication and spindle assembly protein
IAGP
DNA:insertion:intron 10 (rat)
RGD
PMID:19710508
RGD:150521555
NCBI chr10:54,022,523...54,047,793
Ensembl chr10:54,022,852...54,044,849
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Cntrobhd
centrobin, centriole duplication and spindle assembly protein; hypodacty mutant
IAGP
DNA:insertion:intron 10 (rat)
RGD
PMID:19710508
RGD:150521555
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Hsp90b1
heat shock protein 90 beta family member 1
ISS
MouseDO
NCBI chr 7:21,110,431...21,124,762
Ensembl chr 7:21,110,457...21,124,788
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Spata16
spermatogenesis associated 16
ISO
ClinVar Annotator: match by term: Globozoospermia
ClinVar
PMID:17847006 PMID:24265589 PMID:25741868 PMID:28492532 PMID:29065458
NCBI chr 2:109,485,287...109,865,665
Ensembl chr 2:109,485,274...109,865,659
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Cep19
centrosomal protein 19
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Morbid obesity and spermatogenic failure
OMIM CTD ClinVar
PMID:24268657 PMID:25741868 PMID:28492532
NCBI chr11:68,677,869...68,687,117
Ensembl chr11:68,677,871...68,687,022
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Agfg1
ArfGAP with FG repeats 1
ISS
MouseDO
NCBI chr 9:84,124,845...84,182,615
Ensembl chr 9:84,125,120...84,178,128
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Ccdc157
coiled-coil domain containing 157
ISS
MouseDO
NCBI chr14:79,012,433...79,031,458
Ensembl chr14:79,014,925...79,031,671
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Cfap58
cilia and flagella associated protein 58
ISS
MouseDO
NCBI chr 1:246,802,691...246,911,363
Ensembl chr 1:246,802,665...246,911,374
G
Cfap61
cilia and flagella associated protein 61
ISS
MouseDO
NCBI chr 3:133,354,400...133,633,310
Ensembl chr 3:133,354,197...133,633,320
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Cfap70
cilia and flagella associated protein 70
ISS
MouseDO
NCBI chr15:3,852,381...3,918,036
Ensembl chr15:3,852,509...3,918,014
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Mlx
MAX dimerization protein MLX
ISS
MouseDO
NCBI chr10:86,019,216...86,024,326
Ensembl chr10:86,019,588...86,032,350
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Poc1b
POC1 centriolar protein B
ISS
MouseDO
NCBI chr 7:33,924,112...34,025,908
Ensembl chr 7:33,924,189...34,025,903
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Ppp4c
protein phosphatase 4, catalytic subunit
ISS
MouseDO
NCBI chr 1:181,392,899...181,399,703
Ensembl chr 1:181,392,923...181,399,659
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Spata20
spermatogenesis associated 20
ISS
MouseDO
NCBI chr10:79,427,525...79,435,472
Ensembl chr10:79,427,528...79,434,368
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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
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Brdt
bromodomain testis associated
susceptibility
ISO
DNA:SNP: :rs3088232(human)
RGD
PMID:22016351
RGD:9586360
NCBI chr14:2,387,372...2,445,857
Ensembl chr14:2,387,796...2,445,842
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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
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Bscl2
BSCL2 lipid droplet biogenesis associated, seipin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26181198
NCBI chr 1:205,731,828...205,743,430
Ensembl chr 1:205,733,872...205,743,421
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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
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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
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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
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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
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Fam83f
family with sequence similarity 83, member F
ISO
ClinVar Annotator: match by term: Oligozoospermia
ClinVar
PMID:25741868
NCBI chr 7:112,211,164...112,240,454
Ensembl chr 7:112,211,164...112,240,452
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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
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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
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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
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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
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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
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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
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Pnldc1
PARN like ribonuclease domain containing exonuclease 1
ISO
ClinVar Annotator: match by term: Oligospermia
ClinVar
PMID:25741868
NCBI chr 1:47,843,224...47,861,675
Ensembl chr 1:47,843,224...47,861,674
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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
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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
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Ythdc2
YTH N6-methyladenosine RNA binding protein C2
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:34822792
NCBI chr18:37,266,559...37,331,681
Ensembl chr18:37,265,836...37,331,023
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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
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Zp1
zona pellucida glycoprotein 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 1 | ClinVar Annotator: match by term: Oocyte maturation defect 1
OMIM CTD ClinVar
PMID:24670168 PMID:25741868 PMID:30810869
NCBI chr 1:207,560,881...207,567,261
Ensembl chr 1:207,560,881...207,567,261
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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
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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
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Zp3
zona pellucida glycoprotein 3
ISO
ClinVar Annotator: match by term: Oocyte maturation defect 3
OMIM ClinVar
PMID:25741868 PMID:28886344 PMID:30810869
NCBI chr12:20,690,547...20,697,513
Ensembl chr12:20,690,547...20,697,513
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Patl2
PAT1 homolog 2
ISO
ClinVar Annotator: match by term: Oocyte maturation defect 4
OMIM ClinVar
PMID:24033266 PMID:25741868 PMID:28965844 PMID:28965849 PMID:29661911 PMID:32552793 PMID:35091966 More...
NCBI chr 3:109,072,958...109,087,425
Ensembl chr 3:109,075,290...109,083,253
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Wee2
WEE2 oocyte meiosis inhibiting kinase
ISO
ClinVar Annotator: match by term: Oocyte maturation defect 5
OMIM ClinVar
PMID:25741868 PMID:29606300 PMID:30628060
NCBI chr 4:69,239,043...69,261,576
Ensembl chr 4:69,239,299...69,261,093
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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
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Astl
astacin like metalloendopeptidase
ISO
ClinVar Annotator: match by term: Oocyte maturation defect 11
OMIM ClinVar
PMID:34704130
NCBI chr 3:114,563,135...114,580,295
Ensembl chr 3:114,563,135...114,578,868
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Fbxo43
F-box protein 43
ISO
ClinVar Annotator: match by term: Oocyte maturation defect 12
OMIM ClinVar
PMID:34052850 PMID:34595750
NCBI chr 7:67,333,161...67,346,751
Ensembl chr 7:67,333,162...67,346,751
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Zfp36l2
zinc finger protein 36, C3H type-like 2
ISO
ClinVar Annotator: match by term: Oocyte maturation defect 13
OMIM ClinVar
PMID:34611029
NCBI chr 6:10,490,032...10,494,073
Ensembl chr 6:10,490,032...10,494,064
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Cdc20
cell division cycle 20
ISO
ClinVar Annotator: match by term: Oocyte maturation defect 14
OMIM ClinVar
PMID:25741868 PMID:32666501 PMID:33683667 PMID:33898437 PMID:34218387
NCBI chr 5:131,966,203...131,970,406
Ensembl chr 5:131,966,215...131,970,512
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Tle6
TLE family member 6, subcortical maternal complex member
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Preimplantation embryonic lethality 1
OMIM CTD ClinVar
PMID:25741868 PMID:26537248 PMID:36271123
NCBI chr 7:8,107,050...8,118,639
Ensembl chr 7:8,107,207...8,118,639
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Padi6
peptidyl arginine deiminase 6
ISO
ClinVar Annotator: match by term: Preimplantation embryonic lethality 2 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:17587491 PMID:18599511 PMID:25741868 PMID:27545678 PMID:34987164 PMID:37778376 More...
NCBI chr 5:153,021,855...153,037,443
Ensembl chr 5:153,021,965...153,037,414
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Kpna7
karyopherin subunit alpha 7
ISO
ClinVar Annotator: match by term: Oocyte/zygote/embryo maturation arrest 17
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:29302074 PMID:36647821
NCBI chr12:9,576,378...9,635,247
Ensembl chr12:9,576,378...9,612,833
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Nlrp2
NLR family pyrin domain containing 2
ISO
ClinVar Annotator: match by term: Oocyte/zygote/embryo maturation arrest 18
OMIM ClinVar
PMID:25741868 PMID:30877238
NCBI chr 1:69,515,505...69,554,689
Ensembl chr 1:69,515,505...69,554,454
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Nlrp5
NLR family, pyrin domain containing 5
ISO
ClinVar Annotator: match by term: Oocyte/zygote/embryo maturation arrest 19
OMIM ClinVar
PMID:30877238 PMID:35946397
NCBI chr 1:67,778,037...67,810,941
Ensembl chr 1:67,777,948...68,023,736
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Mos
MOS proto-oncogene, serine/threonine kinase
ISO
ClinVar Annotator: match by term: Oocyte/zygote/embryo maturation arrest 20
OMIM ClinVar
PMID:34779126 PMID:34997960 PMID:35670744 PMID:36403623
NCBI chr 5:16,859,957...16,861,264
Ensembl chr 5:16,859,957...16,861,264
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Chek1
checkpoint kinase 1
ISO
ClinVar Annotator: match by term: Oocyte/zygote/embryo maturation arrest 21
OMIM ClinVar
PMID:25741868 PMID:33948904 PMID:33953335
NCBI chr 8:36,420,565...36,443,477
Ensembl chr 8:36,420,569...36,441,009
G
Zp2
zona pellucida glycoprotein 2
ISO
ClinVar Annotator: match by term: Oocyte maturation defect 6
OMIM ClinVar
PMID:25741868 PMID:28971300 PMID:29895852 PMID:30810869 PMID:35211729
NCBI chr 1:174,513,507...174,525,288
Ensembl chr 1:174,513,511...174,525,288
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Panx1
Pannexin 1
ISO
ClinVar Annotator: match by term: Oocyte maturation defect 7
OMIM ClinVar
PMID:25741868 PMID:30918116
NCBI chr 8:11,851,176...11,889,774
Ensembl chr 8:11,850,730...11,889,774
G
Btg4
BTG anti-proliferation factor 4
ISO
ClinVar Annotator: match by term: Oocyte maturation defect 8
OMIM ClinVar
PMID:25741868 PMID:32502391 PMID:34647228
NCBI chr 8:51,410,774...51,425,802
Ensembl chr 8:51,422,061...51,425,796
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Trip13
thyroid hormone receptor interactor 13
ISO
ClinVar Annotator: match by term: Oocyte maturation defect 9
OMIM ClinVar
PMID:25741868 PMID:32473092
NCBI chr 1:29,357,093...29,402,078
Ensembl chr 1:29,357,130...29,402,074
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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
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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
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Pdia3
protein disulfide isomerase family A, member 3
ISO
ClinVar Annotator: match by term: Deafness-infertility syndrome
ClinVar
PMID:25741868
NCBI chr 3:108,388,189...108,412,013
Ensembl chr 3:108,388,245...108,413,236
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Ppip5k1
diphosphoinositol pentakisphosphate kinase 1
ISO
ClinVar Annotator: match by term: Deafness-infertility syndrome
ClinVar
PMID:25741868
NCBI chr 3:108,284,120...108,327,683
Ensembl chr 3:108,284,120...108,323,428
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Strc
stereocilin
ISO
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 PMID:25741868 PMID:26467025 PMID:29425068 More...
NCBI chr 3:108,335,920...108,355,114
Ensembl chr 3:108,335,747...108,354,134
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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
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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
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Nupr1
nuclear protein 1, transcriptional regulator
ISS
OMIM:305700 | OMIM:400042
MouseDO
NCBI chr 1:181,213,292...181,215,327
Ensembl chr 1:181,213,368...181,215,281
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Aurkc
aurora kinase C
ISO
ClinVar Annotator: match by term: Spermatogenic Failure
ClinVar
NCBI chr 1:66,843,653...66,849,775
Ensembl chr 1:66,843,653...66,864,386
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Ccdc34
coiled-coil domain containing 34
ISS
MouseDO
NCBI chr 3:96,553,074...96,588,310
Ensembl chr 3:96,552,992...96,588,146
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Dnah10
dynein, axonemal, heavy chain 10
ISS
MouseDO
NCBI chr12:31,823,451...31,946,857
Ensembl chr12:31,822,733...32,007,069
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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
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Redic1
regulator of DNA class I crossover intermediates 1
ISO
ClinVar Annotator: match by term: Spermatogenic Failure
ClinVar
NCBI chr 7:122,318,495...122,386,002
Ensembl chr 7:122,318,499...122,385,983
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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
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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
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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
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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
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Ankrd36
ankyrin repeat domain 36
ISO
ClinVar Annotator: match by term: Oligosynaptic infertility
ClinVar
NCBI chr14:80,451,699...80,568,458
Ensembl chr14:80,451,738...80,516,513
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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
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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:16199547 PMID:17576681 PMID:17694559 PMID:17940071 PMID:19246354 PMID:19269353 PMID:20887963 PMID:22028768 PMID:22100173 PMID:22474171 PMID:22549935 PMID:22907560 PMID:23543655 PMID:23729601 PMID:24591553 PMID:25122490 PMID:25741868 PMID:25989977 PMID:27169744 PMID:27378692 PMID:27490115 PMID:27610946 PMID:27899157 PMID:28032338 PMID:28033660 PMID:28130116 PMID:28326187 PMID:28492532 PMID:28938747 PMID:29027299 PMID:29095814 PMID:29190620 PMID:29582157 PMID:29935645 PMID:30067310 PMID:30406445 PMID:30425642 PMID:31831369 PMID:32008008 PMID:32655042 PMID:32738419 PMID:32985417 PMID:33351340 PMID:34095689 PMID:34461970 PMID:35690514 PMID:36572623 More...
NCBI chr 3:22,464,786...22,486,328
Ensembl chr 3:22,465,502...22,486,328
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Pdha2
pyruvate dehydrogenase E1 subunit alpha 2
ISO
ClinVar Annotator: match by term: Oligosynaptic infertility
ClinVar
PMID:29581481 PMID:35172124
NCBI chr 2:229,872,300...229,873,848
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Sycp2
synaptonemal complex protein 2
ISO
ClinVar Annotator: match by term: OLIGOCHIASMATIC INFERTILITY | 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
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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
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Septin12
septin 12
ISO
ClinVar Annotator: match by term: Spermatogenic failure 10 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:22275165 PMID:22479503 PMID:25741868
NCBI chr10:10,580,900...10,590,582
Ensembl chr10:10,581,008...10,590,581
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Klhl10
kelch-like family member 10
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Spermatogenic failure 11
OMIM CTD ClinVar
PMID:17047026 PMID:25741868 PMID:28492532
NCBI chr10:85,376,442...85,392,720
Ensembl chr10:85,376,442...85,392,720
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Nanos1
nanos C2HC-type zinc finger 1
ISO
CTD Direct Evidence: marker/mechanism
OMIM CTD
NCBI chr 1:259,897,663...259,901,561
Ensembl chr 1:259,897,939...259,898,730
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Taf4b
TATA-box binding protein associated factor 4b
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Spermatogenic failure 13
OMIM CTD ClinVar
PMID:24431330
NCBI chr18:5,952,737...6,086,408
Ensembl chr18:5,952,769...6,068,307
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Zmynd15
zinc finger, MYND-type containing 15
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Spermatogenic failure 14
OMIM CTD ClinVar
PMID:33169450
NCBI chr10:55,171,198...55,177,812
Ensembl chr10:55,171,198...55,177,812
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Syce1
synaptonemal complex central element protein 1
ISO
ClinVar Annotator: match by term: Spermatogenic failure 15 CTD Direct Evidence: marker/mechanism
ClinVar CTD OMIM
PMID:25899990
NCBI chr 1:195,852,171...195,863,174
Ensembl chr 1:195,852,172...195,863,174
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Sun5
Sad1 and UNC84 domain containing 5
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Spermatogenic failure 16
OMIM CTD ClinVar
PMID:25741868 PMID:27640305 PMID:28492532 PMID:29331481
NCBI chr 3:142,334,931...142,355,349
Ensembl chr 3:142,334,928...142,355,330
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Pik3c2g
phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma
ISO
ClinVar Annotator: match by term: Spermatogenic failure 17
ClinVar
PMID:25741868 PMID:26721930 PMID:31463947 PMID:36593593 PMID:37004249
NCBI chr 4:172,483,752...172,851,623
Ensembl chr 4:172,484,345...172,850,544
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Plcz1
phospholipase C, zeta 1
ISO
ClinVar Annotator: match by term: Spermatogenic failure 17 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:25741868 PMID:26721930 PMID:31463947 PMID:36593593 PMID:37004249
NCBI chr 4:172,873,110...172,929,191
Ensembl chr 4:172,873,112...172,928,358
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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
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Dnah1
dynein, axonemal, heavy chain 1
ISO
ClinVar Annotator: match by term: Spermatogenic failure 18
OMIM ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:24033266 PMID:24360805 PMID:25741868 PMID:25927852 PMID:27573432 PMID:27798045 PMID:28492532 PMID:28577616 PMID:29449551 PMID:30686508 PMID:30811583 PMID:31507630 PMID:31676830 PMID:31765523 PMID:32124190 PMID:32719396 PMID:33929677 PMID:33968654 PMID:34089056 PMID:34791246 PMID:34867808 More...
NCBI chr16:6,455,514...6,517,103
Ensembl chr16:6,456,002...6,518,350
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Dnah3
dynein, axonemal, heavy chain 3
ISO
ClinVar Annotator: match by term: Spermatogenic failure 18
ClinVar
PMID:32017041
NCBI chr 1:174,305,929...174,479,490
Ensembl chr 1:174,306,644...174,479,474
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Psmd12
proteasome 26S subunit, non-ATPase 12
ISO
ClinVar Annotator: match by term: Spermatogenic failure 18
ClinVar
NCBI chr10:92,438,223...92,457,323
Ensembl chr10:92,438,298...92,457,287
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Cfap43
cilia and flagella associated protein 43
ISO ISS
OMIM:617592 ClinVar Annotator: match by term: Spermatogenic failure 19
OMIM MouseDO ClinVar
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
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Msh4
mutS homolog 4
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Spermatogenic failure 2
OMIM CTD ClinVar
PMID:25741868 PMID:33437391 PMID:33448284 PMID:34755185 PMID:35090489
NCBI chr 2:242,785,392...242,844,609
Ensembl chr 2:242,792,661...242,843,487
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Cfap44
cilia and flagella associated protein 44
ISO ISS
ClinVar Annotator: match by term: Spermatogenic failure 20 OMIM:617593
OMIM ClinVar MouseDO
PMID:25741868 PMID:28552195 PMID:29277146 PMID:29449551
NCBI chr11:56,199,772...56,283,964
Ensembl chr11:56,201,049...56,283,986
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Spice1
spindle and centriole associated protein 1
ISO
ClinVar Annotator: match by term: Spermatogenic failure 20
ClinVar
PMID:25741868 PMID:28552195 PMID:29277146 PMID:29449551
NCBI chr11:56,289,291...56,332,382
Ensembl chr11:56,290,540...56,332,447
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Brdt
bromodomain testis associated
ISO
ClinVar Annotator: match by term: Spermatogenic failure 21
ClinVar OMIM
PMID:28199965
NCBI chr14:2,387,372...2,445,857
Ensembl chr14:2,387,796...2,445,842
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Fahd1
fumarylacetoacetate hydrolase domain containing 1
ISO
ClinVar Annotator: match by term: Spermatogenic failure 22
ClinVar
PMID:35991565
NCBI chr10:13,873,539...13,874,978
Ensembl chr10:13,873,527...13,875,012
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Meiob
meiosis specific with OB-fold
ISO
ClinVar Annotator: match by term: Spermatogenic failure 22
OMIM ClinVar
PMID:28206990 PMID:28492532 PMID:30838384 PMID:34392356 PMID:35991565 PMID:37715646 More...
NCBI chr10:13,833,170...13,865,684
Ensembl chr10:13,833,750...13,865,046
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Tex14
testis expressed 14, intercellular bridge forming factor
ISO
ClinVar Annotator: match by term: Spermatogenic failure 23
OMIM ClinVar
PMID:25741868 PMID:28206990 PMID:28492532 PMID:29790874 PMID:31479588
NCBI chr10:72,231,766...72,356,938
Ensembl chr10:72,231,801...72,355,805
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Cfap69
cilia and flagella associated protein 69
ISO ISS
OMIM:617959 ClinVar Annotator: match by term: Spermatogenic failure 24
OMIM MouseDO ClinVar
PMID:25741868 PMID:29606301 PMID:30415212
NCBI chr 4:28,379,604...28,452,562
Ensembl chr 4:28,375,996...28,450,698
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Tex15
testis expressed 15, meiosis and synapsis associated
ISO
ClinVar Annotator: match by term: Spermatogenic failure 25
OMIM ClinVar
PMID:25741868 PMID:26199321 PMID:28355598 PMID:28492532
NCBI chr16:58,598,991...58,659,005
Ensembl chr16:58,598,989...58,658,467
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Tsga10
testis specific 10
ISO
ClinVar Annotator: match by term: Spermatogenic failure 26
ClinVar OMIM
PMID:28905369
NCBI chr 9:39,991,203...40,098,259
Ensembl chr 9:39,991,830...40,098,232
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Ak7
adenylate kinase 7
ISO
ClinVar Annotator: match by term: Spermatogenic failure 27
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:29365104
NCBI chr 6:124,611,789...124,679,978
Ensembl chr 6:124,611,902...124,679,961
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Fancm
FA complementation group M
ISO
ClinVar Annotator: match by term: Spermatogenic failure 28
OMIM ClinVar
PMID:2867840 PMID:9536098 PMID:17289582 PMID:17576681 PMID:18174376 PMID:18414213 PMID:19379763 PMID:19737859 PMID:21681190 PMID:23409019 PMID:23932590 PMID:24003026 PMID:25288723 PMID:25741868 PMID:26094658 PMID:26130695 PMID:26296701 PMID:26467025 PMID:26483394 PMID:26517685 PMID:26580448 PMID:26689913 PMID:26740942 PMID:26822949 PMID:27713038 PMID:28033443 PMID:28492532 PMID:28591191 PMID:28678401 PMID:28702895 PMID:28717660 PMID:28837157 PMID:28837162 PMID:28881617 PMID:29217778 PMID:29231814 PMID:29287190 PMID:29351780 PMID:29625052 PMID:29641532 PMID:29760528 PMID:29895858 PMID:30075111 PMID:30158692 PMID:30426508 PMID:30927251 PMID:30995915 PMID:31263571 PMID:31428572 PMID:31589614 PMID:31700994 PMID:31921681 PMID:31991861 PMID:32054657 PMID:32235514 PMID:32268276 PMID:32295525 PMID:32338768 PMID:32427313 PMID:32522261 PMID:32566746 PMID:33099839 PMID:33118316 PMID:33471991 PMID:34117267 PMID:34174131 PMID:34326862 PMID:34598035 PMID:34646395 PMID:35495172 PMID:35929646 PMID:36534659 PMID:37316882 More...
NCBI chr 6:83,126,903...83,180,455
Ensembl chr 6:83,127,093...83,180,028
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Spink2
serine peptidase inhibitor, Kazal type 2
ISO
ClinVar Annotator: match by term: Spermatogenic failure 29
OMIM ClinVar
PMID:25741868 PMID:28554943
NCBI chr14:30,967,682...30,974,326
Ensembl chr14:30,967,714...30,974,326
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Adad2
adenosine deaminase domain containing 2
ISO
ClinVar Annotator: match by term: Non-obstructive azoospermia
ClinVar
PMID:25741868
NCBI chr19:47,665,288...47,669,433
Ensembl chr19:47,665,309...47,669,436
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Ar
androgen receptor
ISO
ClinVar Annotator: match by term: Non-obstructive azoospermia
ClinVar
PMID:25741868 PMID:28492532 PMID:36572623
NCBI chr X:63,104,771...63,273,934
Ensembl chr X:63,104,771...63,273,925
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Ddx3y
DEAD box helicase 3, Y-linked
ISO
ClinVar Annotator: match by term: Non-obstructive azoospermia
ClinVar
PMID:25741868
NCBI chr Y:1,115,095...1,135,754
Ensembl chr Y:1,116,309...1,135,706
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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
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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 PMID:28492532 PMID:31479588 More...
NCBI chr 3:142,130,588...142,169,128
Ensembl chr 3:142,130,592...142,169,124
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Foxp3
forkhead box P3
ISO
ClinVar Annotator: match by term: Non-obstructive azoospermia
ClinVar
PMID:24258212 PMID:25741868 PMID:28492532
NCBI chr X:14,908,494...14,924,994
Ensembl chr X:14,908,494...14,923,838
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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
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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
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Mcm9
minichromosome maintenance 9 homologous recombination repair factor
ISO
ClinVar Annotator: match by term: Non-obstructive azoospermia
ClinVar
PMID:25480036 PMID:25741868 PMID:31042289
NCBI chr20:32,818,219...32,929,577
Ensembl chr20:32,844,951...32,929,600
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Mon1b
MON1 homolog B, secretory trafficking associated
ISO
ClinVar Annotator: match by term: Non-obstructive azoospermia
ClinVar
PMID:25741868 PMID:28492532 PMID:31479588
NCBI chr19:41,617,372...41,625,347
Ensembl chr19:41,617,364...41,625,347
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Mov10l1
Mov10 like RNA helicase 1
ISO
ClinVar Annotator: match by term: Non-obstructive azoospermia
ClinVar
PMID:25741868 PMID:35476666
NCBI chr 7:120,070,171...120,135,406
Ensembl chr 7:120,070,135...120,134,765
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Msh4
mutS homolog 4
ISO
ClinVar Annotator: match by term: Non-obstructive azoospermia
ClinVar
PMID:25741868 PMID:33448284 PMID:34755185
NCBI chr 2:242,785,392...242,844,609
Ensembl chr 2:242,792,661...242,843,487
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Msh5
mutS homolog 5
ISO
ClinVar Annotator: match by term: Non-obstructive azoospermia
ClinVar
PMID:25741868 PMID:34755185
NCBI chr20:3,773,867...3,793,337
Ensembl chr20:3,776,942...3,793,336
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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
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Nr5a1
nuclear receptor subfamily 5, group A, member 1
ISO
ClinVar Annotator: match by term: Non-obstructive azoospermia
ClinVar
PMID:18414213 PMID:20887963 PMID:25741868 PMID:25989977 PMID:28492532 PMID:35690514 PMID:36572623 More...
NCBI chr 3:22,464,786...22,486,328
Ensembl chr 3:22,465,502...22,486,328
G
Pnldc1
PARN like ribonuclease domain containing exonuclease 1
ISO
ClinVar Annotator: match by term: Non-obstructive azoospermia
ClinVar
PMID:25741868
NCBI chr 1:47,843,224...47,861,675
Ensembl chr 1:47,843,224...47,861,674
G
Rad21l1
RAD21 cohesin complex component like 1
ISO
ClinVar Annotator: match by term: Non-obstructive azoospermia
ClinVar
PMID:25741868
NCBI chr 3:140,160,128...140,188,324
Ensembl chr 3:140,160,118...140,188,298
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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
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Rnf212
ring finger protein 212
ISO
ClinVar Annotator: match by term: Non-obstructive azoospermia
ClinVar
PMID:25741868
NCBI chr14:949,397...988,377
Ensembl chr14:949,448...987,831
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
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Slc26a8
solute carrier family 26 member 8
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Spermatogenic failure 3
OMIM CTD ClinVar
PMID:23582645 PMID:25741868 PMID:28492532 PMID:34923715
NCBI chr20:6,686,206...6,749,478
Ensembl chr20:6,697,723...6,749,478
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Spo11
SPO11 initiator of meiotic double strand breaks
ISO
ClinVar Annotator: match by term: Non-obstructive azoospermia
ClinVar
PMID:25741868
NCBI chr 3:161,755,299...161,770,930
Ensembl chr 3:161,757,519...161,770,925
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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
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Stag3
STAG3 cohesin complex component
ISO
ClinVar Annotator: match by term: Non-obstructive azoospermia
ClinVar
PMID:25741868 PMID:31682730 PMID:35176428
NCBI chr12:17,284,677...17,314,936
Ensembl chr12:17,284,794...17,314,935
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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
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Sycp2
synaptonemal complex protein 2
ISO
ClinVar Annotator: match by term: Non-obstructive azoospermia
ClinVar
PMID:25741868 PMID:31866047
NCBI chr 3:165,431,715...165,502,134
Ensembl chr 3:165,436,331...165,498,789
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Terb1
telomere repeat binding bouquet formation protein 1
ISO
ClinVar Annotator: match by term: Non-obstructive azoospermia
ClinVar
PMID:25741868 PMID:33211200
NCBI chr19:473,720...528,069
Ensembl chr19:473,218...528,084
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Terb2
telomere repeat binding bouquet formation protein 2
ISO
ClinVar Annotator: match by term: Non-obstructive azoospermia
ClinVar
PMID:25741868
NCBI chr 3:109,138,343...109,156,700
Ensembl chr 3:109,138,343...109,156,683
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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
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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
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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
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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
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Zmynd15
zinc finger, MYND-type containing 15
ISO
ClinVar Annotator: match by term: Non-obstructive azoospermia
ClinVar
PMID:25741868
NCBI chr10:55,171,198...55,177,812
Ensembl chr10:55,171,198...55,177,812
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Zswim7
zinc finger, SWIM-type containing 7
ISO
ClinVar Annotator: match by term: Non-obstructive azoospermia
ClinVar
PMID:25741868 PMID:32719396 PMID:33713115
NCBI chr10:46,953,311...46,969,800
Ensembl chr10:46,957,525...46,969,671
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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
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Cyba
cytochrome b-245 alpha chain
ISO
ClinVar Annotator: match by term: CYBA DEFICIENCY
ClinVar
PMID:3368442 PMID:9445163 PMID:10440830 PMID:10910929 PMID:19388116 PMID:20167518 PMID:25741868 PMID:26185101 PMID:28492532 PMID:30709874 More...
NCBI chr19:50,487,598...50,495,669
Ensembl chr19:50,487,597...50,495,721
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Pmfbp1
polyamine modulated factor 1 binding protein 1
ISO ISS
OMIM:618112 ClinVar Annotator: match by term: Spermatogenic failure 31
OMIM MouseDO ClinVar
PMID:25741868 PMID:30032984 PMID:30298696
NCBI chr19:37,458,126...37,507,880
Ensembl chr19:37,458,108...37,507,879
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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
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Ccdc146
coiled-coil domain containing 146
ISO
ClinVar Annotator: match by term: Male infertility due to sperm motility disorder | ClinVar Annotator: match by term: Male infertility with spermatogenesis disorder due to single gene mutation
ClinVar
NCBI chr 4:13,662,766...13,811,619
Ensembl chr 4:13,662,766...13,811,608
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Cfap251
cilia and flagella associated protein 251
ISO
ClinVar Annotator: match by term: Spermatogenic failure 33
OMIM ClinVar
PMID:30122540 PMID:30122541
NCBI chr12:33,261,622...33,337,028
Ensembl chr12:33,261,476...33,293,932
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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
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Fsip2
fibrous sheath-interacting protein 2
ISO
ClinVar Annotator: match by term: Spermatogenic failure 34
OMIM ClinVar
PMID:25741868 PMID:30137358 PMID:35654582
NCBI chr 3:67,962,345...68,032,866
Ensembl chr 3:67,962,360...68,032,868
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Qrich2
glutamine rich 2
ISO
ClinVar Annotator: match by term: Spermatogenic failure 35
OMIM ClinVar
PMID:25741868 PMID:31110204 PMID:31292949
NCBI chr10:101,669,240...101,697,643
Ensembl chr10:101,669,224...101,697,656
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Ppp2r3c
protein phosphatase 2, regulatory subunit B'', gamma
ISO
ClinVar Annotator: match by term: Spermatogenic failure 36
OMIM ClinVar
PMID:8849014 PMID:25741868 PMID:30893644 PMID:34714774 PMID:34750818
NCBI chr 6:72,647,025...72,670,885
Ensembl chr 6:72,647,025...72,672,491
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Prorp
protein only RNase P catalytic subunit
ISO
ClinVar Annotator: match by term: Spermatogenic failure 36
ClinVar
PMID:25741868
NCBI chr 6:72,669,659...72,762,419
Ensembl chr 6:72,670,847...72,762,416
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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
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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
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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
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Dnah17
dynein, axonemal, heavy chain 17
ISO ISS
OMIM:618643 ClinVar Annotator: match by term: Spermatogenic failure 39
OMIM MouseDO ClinVar
PMID:25741868 PMID:31178125 PMID:31658987 PMID:33070343
NCBI chr10:103,244,144...103,364,953
Ensembl chr10:103,249,363...103,364,901
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Chpt1
choline phosphotransferase 1
ISO
ClinVar Annotator: match by term: Spermatogenic failure 4
ClinVar
PMID:28492532
NCBI chr 7:22,866,455...22,915,111
Ensembl chr 7:22,863,027...22,915,103
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Hfm1
helicase for meiosis 1
ISO
ClinVar Annotator: match by term: Spermatogenic failure 4
ClinVar
NCBI chr14:2,857,251...2,943,766
Ensembl chr14:2,856,599...2,939,238
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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
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Rpl10l
ribosomal protein L10 like
ISO
ClinVar Annotator: match by term: Spermatogenesis maturation arrest
ClinVar
PMID:32111475
NCBI chr 6:84,544,771...84,545,791
Ensembl chr 6:84,543,540...84,545,816
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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
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Sycp3
synaptonemal complex protein 3
ISO
ClinVar Annotator: match by term: Spermatogenic failure 4 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:14643120 PMID:19110213 PMID:25741868 PMID:28492532 PMID:28801929 PMID:29713536 More...
NCBI chr 7:22,874,055...22,888,512
Ensembl chr 7:22,874,055...22,888,511
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Cfap65
cilia and flagella associated protein 65
ISO ISS
OMIM:618664 ClinVar Annotator: match by term: Spermatogenic failure 40
OMIM MouseDO ClinVar
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
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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
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Ttc29
tetratricopeptide repeat domain 29
ISO
ClinVar Annotator: match by term: Spermatogenic failure 42
OMIM ClinVar
PMID:31735292 PMID:31735294
NCBI chr19:29,531,707...29,750,635
Ensembl chr19:29,532,663...29,750,615
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Spef2
sperm flagellar 2
ISO
ClinVar Annotator: match by term: Spermatogenic failure 43
OMIM ClinVar
PMID:24033266 PMID:25741868 PMID:28492532 PMID:31048344 PMID:31151990 PMID:31278745 More...
NCBI chr 2:58,512,489...58,694,718
Ensembl chr 2:58,512,489...58,694,664
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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
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Dnah2
dynein, axonemal, heavy chain 2
ISO
ClinVar Annotator: match by term: Spermatogenic failure 45
OMIM ClinVar
PMID:25741868 PMID:30811583
NCBI chr10:54,142,648...54,268,901
Ensembl chr10:54,142,737...54,267,298
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Dnah8
dynein, axonemal, heavy chain 8
ISO ISS
ClinVar Annotator: match by term: DNAH8-related condition | ClinVar Annotator: match by term: Spermatogenic failure 46 OMIM:619095
OMIM ClinVar MouseDO
PMID:16199547 PMID:24033266 PMID:24307375 PMID:25741868 PMID:28492532 PMID:32619401 PMID:32681648 More...
NCBI chr20:8,692,939...8,946,780
Ensembl chr20:8,692,963...8,946,772
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Dzip1
DAZ interacting zinc finger protein 1
ISO ISS
OMIM:619102 ClinVar Annotator: match by term: Spermatogenic failure 47
OMIM MouseDO ClinVar
PMID:32051257
NCBI chr15:95,956,329...96,009,994
Ensembl chr15:95,956,398...96,010,066
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M1ap
meiosis 1 associated protein
ISO
ClinVar Annotator: match by term: Spermatogenic failure 48
OMIM ClinVar
PMID:25741868 PMID:32017041 PMID:32673564
NCBI chr 4:115,445,910...115,536,745
Ensembl chr 4:115,455,397...115,536,487
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Cfap58
cilia and flagella associated protein 58
ISO
ClinVar Annotator: match by term: Spermatogenic failure 49
OMIM ClinVar
PMID:25741868 PMID:32791035
NCBI chr 1:246,802,691...246,911,363
Ensembl chr 1:246,802,665...246,911,374
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Aurkc
aurora kinase C
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Infertility associated with multi-tailed spermatozoa and excessive DNA | ClinVar Annotator: match by term: Male infertility with spermatogenesis disorder
OMIM CTD ClinVar
PMID:17435757 PMID:19147683 PMID:21733974 PMID:22888167 PMID:24033266 PMID:25219909 PMID:25741868 PMID:25755131 PMID:26341096 PMID:27106102 PMID:28492532 PMID:31455599 More...
NCBI chr 1:66,843,653...66,849,775
Ensembl chr 1:66,843,653...66,864,386
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Chd7
chromodomain helicase DNA binding protein 7
ISO
ClinVar Annotator: match by term: Male infertility with spermatogenesis disorder
ClinVar
PMID:23533228 PMID:25064402 PMID:25383892 PMID:25741868 PMID:28492532 PMID:30733481 More...
NCBI chr 5:21,812,007...21,995,358
Ensembl chr 5:21,812,070...21,995,358
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Dhx37
DEAH-box helicase 37
ISO
ClinVar Annotator: match by term: Male infertility with spermatogenesis disorder
ClinVar
PMID:25741868
NCBI chr12:31,194,782...31,214,890
Ensembl chr12:31,194,859...31,216,802
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Dnah17
dynein, axonemal, heavy chain 17
ISO
ClinVar Annotator: match by term: Male infertility with spermatogenesis disorder
ClinVar
PMID:25741868
NCBI chr10:103,244,144...103,364,953
Ensembl chr10:103,249,363...103,364,901
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Dnhd1
dynein heavy chain domain 1
ISO
ClinVar Annotator: match by term: Male infertility with spermatogenesis disorder
ClinVar
PMID:16199547 PMID:25741868 PMID:28492532 PMID:34932939 PMID:36768883
NCBI chr 1:159,990,785...160,077,990
Ensembl chr 1:159,990,438...160,074,858
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Dyrk1a
dual specificity tyrosine phosphorylation regulated kinase 1A
ISO
ClinVar Annotator: match by term: Male infertility with spermatogenesis disorder
ClinVar
PMID:25741868
NCBI chr11:33,890,706...34,009,420
Ensembl chr11:33,890,490...34,009,420
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Fancm
FA complementation group M
ISO
ClinVar Annotator: match by term: Male infertility with spermatogenesis disorder
ClinVar
PMID:17289582 PMID:18174376 PMID:19379763 PMID:23932590 PMID:24003026 PMID:25288723 PMID:25741868 PMID:26467025 PMID:26822949 PMID:28033443 PMID:28492532 PMID:28837162 PMID:29231814 PMID:30075111 PMID:30426508 PMID:31263571 PMID:31589614 PMID:31700994 PMID:32054657 PMID:32295525 PMID:32338768 PMID:33099839 PMID:33471991 PMID:34117267 More...
NCBI chr 6:83,126,903...83,180,455
Ensembl chr 6:83,127,093...83,180,028
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Hesx1
HESX homeobox 1
ISO
ClinVar Annotator: match by term: Male infertility with spermatogenesis disorder
ClinVar
PMID:25741868 PMID:26781211 PMID:28332357 PMID:28492532
NCBI chr16:2,191,852...2,193,957
Ensembl chr16:2,191,852...2,193,957
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Kmt2d
lysine methyltransferase 2D
ISO
ClinVar Annotator: match by term: Male infertility with spermatogenesis disorder
ClinVar
PMID:25741868
NCBI chr 7:129,980,744...130,022,088
Ensembl chr 7:129,962,887...130,020,325
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Prok2
prokineticin 2
ISO
ClinVar Annotator: match by term: Male infertility with spermatogenesis disorder
ClinVar
PMID:25741868
NCBI chr 4:132,346,681...132,361,754
Ensembl chr 4:132,347,103...132,361,385
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Prokr2
prokineticin receptor 2
ISO
ClinVar Annotator: match by term: Male infertility with spermatogenesis disorder
ClinVar
PMID:17054399 PMID:18826963 PMID:20022991 PMID:20696889 PMID:21858136 PMID:23082007 PMID:23643382 PMID:24031091 PMID:24753254 PMID:24830383 PMID:25741868 PMID:28492532 PMID:29161432 PMID:34539727 PMID:35173048 More...
NCBI chr 3:119,624,738...119,639,442
Ensembl chr 3:119,627,601...119,635,718
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Spred1
sprouty-related, EVH1 domain containing 1
ISO
ClinVar Annotator: match by term: Male infertility with spermatogenesis disorder
ClinVar
PMID:17704776 PMID:19920235 PMID:21089071 PMID:21649642 PMID:25883013 PMID:28492532 PMID:29493581 More...
NCBI chr 3:103,983,120...104,050,321
Ensembl chr 3:103,983,072...104,049,718
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Tp63
tumor protein p63
ISO
ClinVar Annotator: match by term: Male infertility with spermatogenesis disorder
ClinVar
PMID:25741868
NCBI chr11:74,838,858...75,049,764
Ensembl chr11:74,838,859...75,049,398
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Ttc29
tetratricopeptide repeat domain 29
ISO
ClinVar Annotator: match by term: Male infertility with spermatogenesis disorder
ClinVar
PMID:25741868 PMID:31735292 PMID:31735294 PMID:36346162
NCBI chr19:29,531,707...29,750,635
Ensembl chr19:29,532,663...29,750,615
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Xrcc2
X-ray repair cross complementing 2
ISO
ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 50
OMIM ClinVar
PMID:28492532 PMID:30042186 PMID:30489636 PMID:33194656
NCBI chr 4:9,423,873...9,502,980
Ensembl chr 4:9,423,898...9,442,482
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Cfap91
cilia and flagella associated protein 91
ISO
ClinVar Annotator: match by term: Spermatogenic failure 51
OMIM ClinVar
PMID:25741868 PMID:32161152
NCBI chr11:62,413,613...62,457,281
Ensembl chr11:62,413,602...62,457,293
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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
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Actl9
actin-like 9
ISO
ClinVar Annotator: match by term: Spermatogenic failure 53
OMIM ClinVar
PMID:25741868 PMID:33626338
NCBI chr 7:14,234,504...14,235,881
Ensembl chr 7:14,234,504...14,235,881
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Catip
ciliogenesis associated TTC17 interacting protein
ISO
ClinVar Annotator: match by term: Spermatogenic failure 54
OMIM ClinVar
PMID:32503832
NCBI chr 9:75,945,960...75,953,618
Ensembl chr 9:75,945,961...75,953,607
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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
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Dnah10
dynein, axonemal, heavy chain 10
ISO
ClinVar Annotator: match by term: Spermatogenic failure 56
OMIM ClinVar
PMID:25741868 PMID:34237282
NCBI chr12:31,823,451...31,946,857
Ensembl chr12:31,822,733...32,007,069
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Actrt1
actin-related protein T1
ISO
ClinVar Annotator: match by term: Male infertility with azoospermia or oligozoospermia due to single gene mutation
ClinVar
PMID:25741868
NCBI chr X:125,584,102...125,585,455
Ensembl chr X:125,584,065...125,585,457
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Ar
androgen receptor
ISO
ClinVar Annotator: match by term: Male infertility with azoospermia or oligozoospermia due to single gene mutation
ClinVar
PMID:25741868 PMID:28492532 PMID:36572623
NCBI chr X:63,104,771...63,273,934
Ensembl chr X:63,104,771...63,273,925
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Asz1
ankyrin repeat, SAM and basic leucine zipper domain containing 1
ISO
ClinVar Annotator: match by term: Male infertility with azoospermia or oligozoospermia due to single gene mutation
ClinVar
PMID:25741868
NCBI chr 4:46,400,485...46,456,085
Ensembl chr 4:46,400,485...46,456,085
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Atrx
ATRX, chromatin remodeler
ISO
ClinVar Annotator: match by term: Male infertility with azoospermia or oligozoospermia due to single gene mutation
ClinVar
PMID:25741868
NCBI chr X:70,850,981...70,997,330
Ensembl chr X:70,850,981...70,997,330
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Bnc1
basonuclin zinc finger protein 1
ISO
ClinVar Annotator: match by term: Male infertility with azoospermia or oligozoospermia due to single gene mutation
ClinVar
PMID:25741868
NCBI chr 1:135,917,676...135,943,333
Ensembl chr 1:135,917,687...135,943,333
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Dcaf12l1
DDB1 and CUL4 associated factor 12-like 1
ISO
ClinVar Annotator: match by term: Male infertility with azoospermia or oligozoospermia due to single gene mutation
ClinVar
PMID:25741868
NCBI chr X:123,695,286...123,698,905
Ensembl chr X:123,695,286...123,698,905
G
Dhx37
DEAH-box helicase 37
ISO
ClinVar Annotator: match by term: Male infertility with azoospermia or oligozoospermia due to single gene mutation
ClinVar
PMID:25741868
NCBI chr12:31,194,782...31,214,890
Ensembl chr12:31,194,859...31,216,802
G
Dmrt1
doublesex and mab-3 related transcription factor 1
ISO
ClinVar Annotator: match by term: Male infertility with azoospermia or oligozoospermia due to single gene mutation
ClinVar
PMID:25741868
NCBI chr 1:223,142,859...223,241,333
Ensembl chr 1:223,142,859...223,241,333
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Esx1
ESX homeobox 1
ISO
ClinVar Annotator: match by term: Male infertility with azoospermia or oligozoospermia due to single gene mutation
ClinVar
PMID:25741868
NCBI chr X:100,449,298...100,454,452
G
Fancm
FA complementation group M
ISO
ClinVar Annotator: match by term: Male infertility with azoospermia or oligozoospermia due to single gene mutation
ClinVar
PMID:18414213 PMID:25741868 PMID:26296701 PMID:28492532 PMID:28881617 PMID:29351780 PMID:29895858 PMID:30075111 More...
NCBI chr 6:83,126,903...83,180,455
Ensembl chr 6:83,127,093...83,180,028
G
Fgf8
fibroblast growth factor 8
ISO
ClinVar Annotator: match by term: Male infertility with azoospermia or oligozoospermia due to single gene mutation
ClinVar
PMID:25741868
NCBI chr 1:244,584,477...244,590,578
Ensembl chr 1:244,584,652...244,590,359
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Gata4
GATA binding protein 4
ISO
ClinVar Annotator: match by term: Male infertility with azoospermia or oligozoospermia due to single gene mutation
ClinVar
PMID:17643447 PMID:18672102 PMID:20347099 PMID:20874241 PMID:21110066 PMID:21631294 PMID:23626780 PMID:25741868 PMID:27139165 PMID:28161810 PMID:28471988 PMID:28492532 PMID:29670578 PMID:31513339 More...
NCBI chr15:37,459,601...37,531,291
Ensembl chr15:37,459,601...37,505,636
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Gli2
GLI family zinc finger 2
ISO
ClinVar Annotator: match by term: Male infertility with azoospermia or oligozoospermia due to single gene mutation
ClinVar
PMID:25741868 PMID:28492532
NCBI chr13:29,946,882...30,163,589
Ensembl chr13:29,946,809...30,163,574
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Greb1l
GREB1 like retinoic acid receptor coactivator
ISO
ClinVar Annotator: match by term: Male infertility with azoospermia or oligozoospermia due to single gene mutation
ClinVar
PMID:25741868
NCBI chr18:1,392,330...1,629,483
Ensembl chr18:1,392,725...1,628,067
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Huwe1
HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1
ISO
ClinVar Annotator: match by term: Male infertility with azoospermia or oligozoospermia due to single gene mutation
ClinVar
PMID:25741868
NCBI chr X:20,873,795...21,001,378
Ensembl chr X:20,873,795...21,001,262
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Klb
klotho beta
ISO
ClinVar Annotator: match by term: Male infertility with azoospermia or oligozoospermia due to single gene mutation
ClinVar
PMID:25741868
NCBI chr14:42,899,050...42,950,788
Ensembl chr14:42,899,510...42,950,799
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Leo1
LEO1 homolog, Paf1/RNA polymerase II complex component
ISO
ClinVar Annotator: match by term: Male infertility with azoospermia or oligozoospermia due to single gene mutation
ClinVar
PMID:25741868
NCBI chr 8:76,199,547...76,223,983
Ensembl chr 8:76,199,099...76,223,983
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Lztr1
leucine zipper like post translational regulator 1
ISO
ClinVar Annotator: match by term: Male infertility with azoospermia or oligozoospermia due to single gene mutation
ClinVar
PMID:9536098 PMID:16356934 PMID:17576681 PMID:25480913 PMID:25741868 PMID:25795793 PMID:26467025 PMID:28121514 PMID:28492532 PMID:29493581 PMID:30368668 PMID:30481304 PMID:33258288 PMID:33587123 PMID:34184824 More...
NCBI chr11:83,487,717...83,503,896
Ensembl chr11:83,487,717...83,503,633
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M1ap
meiosis 1 associated protein
ISO
ClinVar Annotator: match by term: Male infertility with azoospermia or oligozoospermia due to single gene mutation
ClinVar
PMID:25741868 PMID:32673564
NCBI chr 4:115,445,910...115,536,745
Ensembl chr 4:115,455,397...115,536,487
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Map2k1
mitogen activated protein kinase kinase 1
ISO
ClinVar Annotator: match by term: Male infertility with azoospermia or oligozoospermia due to single gene mutation
ClinVar
PMID:29493581
NCBI chr 8:64,683,449...64,754,900
Ensembl chr 8:64,683,449...64,755,147
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Mcmdc2
minichromosome maintenance domain containing 2
ISO
ClinVar Annotator: match by term: Male infertility with azoospermia or oligozoospermia due to single gene mutation
ClinVar
PMID:25741868
NCBI chr 5:9,291,967...9,337,526
Ensembl chr 5:9,298,101...9,338,300
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Mras
muscle RAS oncogene homolog
ISO
ClinVar Annotator: match by term: Male infertility with azoospermia or oligozoospermia due to single gene mutation
ClinVar
PMID:29493581
NCBI chr 8:99,944,036...100,006,771
Ensembl chr 8:99,944,036...99,996,408
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Nf1
neurofibromin 1
ISO
ClinVar Annotator: match by term: Male infertility with azoospermia or oligozoospermia due to single gene mutation
ClinVar
PMID:29493581
NCBI chr10:64,306,027...64,539,112
Ensembl chr10:64,306,301...64,536,658
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Nr5a1
nuclear receptor subfamily 5, group A, member 1
ISO
ClinVar Annotator: match by term: Male infertility with azoospermia or oligozoospermia due to single gene mutation
ClinVar
PMID:10369247 PMID:11038323 PMID:12907682 PMID:19246354 PMID:20887963 PMID:22100173 PMID:23543655 PMID:25741868 PMID:28492532 More...
NCBI chr 3:22,464,786...22,486,328
Ensembl chr 3:22,465,502...22,486,328
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Nsmf
NMDA receptor synaptonuclear signaling and neuronal migration factor
ISO
ClinVar Annotator: match by term: Male infertility with azoospermia or oligozoospermia due to single gene mutation
ClinVar
PMID:25741868
NCBI chr 3:7,861,846...7,870,615
Ensembl chr 3:7,861,872...7,870,614
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Otx2
orthodenticle homeobox 2
ISO
ClinVar Annotator: match by term: Male infertility with azoospermia or oligozoospermia due to single gene mutation
ClinVar
PMID:22715480 PMID:25741868 PMID:28492532 PMID:33296094
NCBI chr15:21,942,233...21,953,034
Ensembl chr15:21,943,191...21,953,416
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Pnldc1
PARN like ribonuclease domain containing exonuclease 1
ISO
ClinVar Annotator: match by term: Spermatogenic failure 57
OMIM ClinVar
PMID:25741868 PMID:34347949 PMID:35476664
NCBI chr 1:47,843,224...47,861,675
Ensembl chr 1:47,843,224...47,861,674
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Prok2
prokineticin 2
ISO
ClinVar Annotator: match by term: Male infertility with azoospermia or oligozoospermia due to single gene mutation
ClinVar
PMID:17959774 PMID:18285834 PMID:18559922 PMID:18682503 PMID:23643382 PMID:24423319 PMID:25741868 PMID:26467025 PMID:28492532 More...
NCBI chr 4:132,346,681...132,361,754
Ensembl chr 4:132,347,103...132,361,385
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Prokr2
prokineticin receptor 2
ISO
ClinVar Annotator: match by term: Male infertility with azoospermia or oligozoospermia due to single gene mutation
ClinVar
PMID:2403109 PMID:17054399 PMID:18559922 PMID:18682503 PMID:18826963 PMID:20022991 PMID:20502053 PMID:22466334 PMID:22745195 PMID:23082007 PMID:24031091 PMID:24204987 PMID:24830383 PMID:25636053 PMID:25741868 PMID:28492532 PMID:29161432 PMID:30430143 PMID:31093944 PMID:32870266 More...
NCBI chr 3:119,624,738...119,639,442
Ensembl chr 3:119,627,601...119,635,718
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Ptpn11
protein tyrosine phosphatase, non-receptor type 11
ISO
ClinVar Annotator: match by term: Male infertility with azoospermia or oligozoospermia due to single gene mutation
ClinVar
PMID:4746100 PMID:9751050 PMID:11704759 PMID:11992261 PMID:12161469 PMID:12634870 PMID:12717436 PMID:12960218 PMID:13908956 PMID:14974085 PMID:15001945 PMID:15240615 PMID:15248152 PMID:15539800 PMID:15723289 PMID:15834506 PMID:15929108 PMID:15956085 PMID:15987685 PMID:16263833 PMID:16358218 PMID:16377799 PMID:16399795 PMID:16498234 PMID:16804314 PMID:16924159 PMID:16990350 PMID:17020470 PMID:17143285 PMID:17339163 PMID:17361219 PMID:17515436 PMID:17546245 PMID:17661820 PMID:18253957 PMID:18331608 PMID:18678287 PMID:19020799 PMID:19061217 PMID:19077116 PMID:19125092 PMID:19133693 PMID:19260062 PMID:19352411 PMID:19509418 PMID:20030748 PMID:20301303 PMID:20308328 PMID:20954246 PMID:20979190 PMID:21204800 PMID:21340158 PMID:21407260 PMID:21533187 PMID:21567923 PMID:21590266 PMID:22190897 PMID:22465605 PMID:22551697 PMID:23297836 PMID:23726368 PMID:24033266 PMID:24072241 PMID:24150203 PMID:24628801 PMID:24803665 PMID:24935154 PMID:25326637 PMID:25741868 PMID:25862627 PMID:25912702 PMID:26372199 PMID:26467025 PMID:26607044 PMID:26645620 PMID:26785492 PMID:26817465 PMID:26918529 PMID:27117572 PMID:27521173 PMID:28135719 PMID:28483241 PMID:28492532 PMID:28650561 PMID:28957739 PMID:28991257 PMID:29214238 PMID:29263817 PMID:29493581 PMID:29620724 PMID:29848529 PMID:29907801 PMID:30287924 PMID:30294303 PMID:30311386 PMID:30355600 PMID:30417923 PMID:30604644 PMID:30784236 PMID:31064749 PMID:31219622 PMID:31560489 PMID:31564432 PMID:31637070 PMID:32164556 PMID:32410215 PMID:32581362 PMID:32824488 PMID:32860008 PMID:33091040 PMID:34008892 More...
NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925
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Rbm5
RNA binding motif protein 5
ISO
ClinVar Annotator: match by term: Male infertility with azoospermia or oligozoospermia due to single gene mutation
ClinVar
PMID:25741868
NCBI chr 8:108,420,220...108,449,481
Ensembl chr 8:108,420,222...108,449,430
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Ros1
ROS proto-oncogene 1 , receptor tyrosine kinase
ISO
ClinVar Annotator: match by term: Male infertility with azoospermia or oligozoospermia due to single gene mutation
ClinVar
PMID:25741868
NCBI chr20:31,432,636...31,583,998
Ensembl chr20:31,432,637...31,583,865
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Sema3a
semaphorin 3A
ISO
ClinVar Annotator: match by term: Male infertility with azoospermia or oligozoospermia due to single gene mutation
ClinVar
PMID:25741868
NCBI chr 4:21,282,398...21,754,834
Ensembl chr 4:21,287,982...21,494,432
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Smchd1
structural maintenance of chromosomes flexible hinge domain containing 1
ISO
ClinVar Annotator: match by term: Male infertility with azoospermia or oligozoospermia due to single gene mutation
ClinVar
PMID:23143600 PMID:25741868 PMID:25782668 PMID:28492532
NCBI chr 9:111,243,445...111,387,272
Ensembl chr 9:111,247,702...111,349,665
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Sos1
SOS Ras/Rac guanine nucleotide exchange factor 1
ISO
ClinVar Annotator: match by term: Male infertility with azoospermia or oligozoospermia due to single gene mutation
ClinVar
PMID:29493581
NCBI chr 6:14,533,870...14,613,348
Ensembl chr 6:14,533,360...14,611,107
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Spocd1
SPOC domain containing 1
ISO
ClinVar Annotator: match by term: Male infertility with azoospermia or oligozoospermia due to single gene mutation
ClinVar
PMID:25741868 PMID:38359823
NCBI chr 5:142,288,822...142,297,113
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Sycp2
synaptonemal complex protein 2
ISO
ClinVar Annotator: match by term: Male infertility with azoospermia or oligozoospermia due to single gene mutation
ClinVar
PMID:25741868
NCBI chr 3:165,431,715...165,502,134
Ensembl chr 3:165,436,331...165,498,789
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Tcf12
transcription factor 12
ISO
ClinVar Annotator: match by term: Male infertility with azoospermia or oligozoospermia due to single gene mutation
ClinVar
PMID:25741868
NCBI chr 8:72,490,447...72,799,265
Ensembl chr 8:72,492,567...72,799,201
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Tex14
testis expressed 14, intercellular bridge forming factor
ISO
ClinVar Annotator: match by term: Male infertility with azoospermia or oligozoospermia due to single gene mutation
ClinVar
PMID:25741868 PMID:28492532
NCBI chr10:72,231,766...72,356,938
Ensembl chr10:72,231,801...72,355,805
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Tubb3
tubulin, beta 3 class III
ISO
ClinVar Annotator: match by term: Male infertility with azoospermia or oligozoospermia due to single gene mutation
ClinVar
PMID:25741868
NCBI chr19:51,457,187...51,466,243
Ensembl chr19:51,457,184...51,466,243
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Wt1
WT1 transcription factor
ISO
ClinVar Annotator: match by term: Male infertility with azoospermia or oligozoospermia due to single gene mutation
ClinVar
PMID:25741868
NCBI chr 3:91,566,540...91,613,653
Ensembl chr 3:91,567,001...91,613,643
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Ift74
intraflagellar transport 74
ISO
ClinVar Annotator: match by term: Spermatogenic failure 58
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:33689014
NCBI chr 5:109,460,372...109,563,839
Ensembl chr 5:109,474,255...109,563,833
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Terb2
telomere repeat binding bouquet formation protein 2
ISO
ClinVar Annotator: match by term: Spermatogenic failure 59
OMIM ClinVar
PMID:33211200
NCBI chr 3:109,138,343...109,156,700
Ensembl chr 3:109,138,343...109,156,683
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Spata16
spermatogenesis associated 16
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Globozoospermia | ClinVar Annotator: match by term: Spermatogenic failure 6
OMIM CTD ClinVar
PMID:17847006 PMID:24265589 PMID:25741868 PMID:28492532 PMID:29065458
NCBI chr 2:109,485,287...109,865,665
Ensembl chr 2:109,485,274...109,865,659
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Terb1
telomere repeat binding bouquet formation protein 1
ISO
ClinVar Annotator: match by term: Spermatogenic failure 60
OMIM ClinVar
PMID:25741868 PMID:32741963 PMID:33211200
NCBI chr19:473,720...528,069
Ensembl chr19:473,218...528,084
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Stag3
STAG3 cohesin complex component
ISO
ClinVar Annotator: match by term: Spermatogenic failure 61
OMIM ClinVar
PMID:25741868 PMID:31125047 PMID:31682730
NCBI chr12:17,284,677...17,314,936
Ensembl chr12:17,284,794...17,314,935
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Rnf212
ring finger protein 212
ISO
ClinVar Annotator: match by term: Spermatogenic failure 62
OMIM ClinVar
PMID:31125047
NCBI chr14:949,397...988,377
Ensembl chr14:949,448...987,831
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Rpl10l
ribosomal protein L10 like
ISO
ClinVar Annotator: match by term: Spermatogenic failure 63
OMIM ClinVar
PMID:32111475
NCBI chr 6:84,544,771...84,545,791
Ensembl chr 6:84,543,540...84,545,816
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Fbxo43
F-box protein 43
ISO
ClinVar Annotator: match by term: Spermatogenic failure 64
OMIM ClinVar
PMID:30878252 PMID:34052850 PMID:34595750
NCBI chr 7:67,333,161...67,346,751
Ensembl chr 7:67,333,162...67,346,751
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Dnhd1
dynein heavy chain domain 1
ISO
ClinVar Annotator: match by term: DNHD1-related condition | ClinVar Annotator: match by term: Spermatogenic failure 65
OMIM ClinVar
PMID:16199547 PMID:25741868 PMID:28492532 PMID:33279834 PMID:34932939 PMID:36768883 More...
NCBI chr 1:159,990,785...160,077,990
Ensembl chr 1:159,990,438...160,074,858
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Zpbp
zona pellucida binding protein
ISO
ClinVar Annotator: match by term: Spermatogenic failure 66
OMIM ClinVar
PMID:25741868 PMID:31985809
NCBI chr14:85,830,971...86,030,778
Ensembl chr14:85,833,548...86,033,095
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Ccdc62
coiled-coil domain containing 62
ISO
ClinVar Annotator: match by term: Spermatogenic failure 67
OMIM ClinVar
PMID:31985809
NCBI chr12:32,623,170...32,659,912
Ensembl chr12:32,623,170...32,660,017
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C2cd6
C2 calcium dependent domain containing 6
ISO
ClinVar Annotator: match by term: Spermatogenic failure 68
OMIM ClinVar
PMID:25741868 PMID:31985809
NCBI chr 9:60,434,926...60,530,842
Ensembl chr 9:60,434,925...60,530,806
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Ggn
gametogenetin
ISO
ClinVar Annotator: match by term: Spermatogenic failure 69
OMIM ClinVar
PMID:31985809 PMID:33108537
NCBI chr 1:84,470,488...84,474,120
Ensembl chr 1:84,470,508...84,474,114
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Catsper1
cation channel, sperm associated 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Spermatogenic failure 7
OMIM CTD ClinVar
PMID:19344877 PMID:20301780 PMID:21255775 PMID:24442342 PMID:25741868 PMID:28492532 More...
NCBI chr 1:202,643,009...202,652,059
Ensembl chr 1:202,643,038...202,651,824
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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
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Strc
stereocilin
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: MALE INFERTILITY, NONSYNDROMIC, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 7
CTD ClinVar
PMID:21078986 PMID:22147502 PMID:24033266 PMID:25157971 PMID:25741868 PMID:26467025 PMID:29425068 More...
NCBI chr 3:108,335,920...108,355,114
Ensembl chr 3:108,335,747...108,354,134
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Pdha2
pyruvate dehydrogenase E1 subunit alpha 2
ISO
ClinVar Annotator: match by term: Spermatogenic failure 70
OMIM ClinVar
PMID:29581481 PMID:35172124
NCBI chr 2:229,872,300...229,873,848
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Zswim7
zinc finger, SWIM-type containing 7
ISO
ClinVar Annotator: match by term: Spermatogenic failure 71
OMIM ClinVar
PMID:25741868 PMID:32719396 PMID:33713115
NCBI chr10:46,953,311...46,969,800
Ensembl chr10:46,957,525...46,969,671
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Wdr19
WD repeat domain 19
ISO
ClinVar Annotator: match by term: Spermatogenic failure 72
OMIM ClinVar
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:32323121 PMID:32483926 More...
NCBI chr14:43,042,474...43,106,337
Ensembl chr14:43,042,478...43,106,288
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Mov10l1
Mov10 like RNA helicase 1
ISO
ClinVar Annotator: match by term: Spermatogenic failure 73
OMIM ClinVar
PMID:25741868 PMID:35476666
NCBI chr 7:120,070,171...120,135,406
Ensembl chr 7:120,070,135...120,134,765
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Msh5
mutS homolog 5
ISO
ClinVar Annotator: match by term: Spermatogenic failure 74
OMIM ClinVar
PMID:25741868 PMID:34755185
NCBI chr20:3,773,867...3,793,337
Ensembl chr20:3,776,942...3,793,336
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Shoc1
shortage in chiasmata 1
ISO
ClinVar Annotator: match by term: Spermatogenic failure 75
OMIM ClinVar
PMID:32741963 PMID:32900840 PMID:35485979
NCBI chr 5:73,864,423...73,956,487
Ensembl chr 5:73,866,334...73,956,444
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Ccdc34
coiled-coil domain containing 34
ISO
ClinVar Annotator: match by term: Spermatogenic failure 76
OMIM ClinVar
PMID:34348960
NCBI chr 3:96,553,074...96,588,310
Ensembl chr 3:96,552,992...96,588,146
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Fkbp6
FKBP prolyl isomerase family member 6
ISO
ClinVar Annotator: match by term: Spermatogenic failure 77
OMIM ClinVar
PMID:25741868 PMID:36150389
NCBI chr12:21,318,251...21,390,350
Ensembl chr12:21,319,568...21,390,350
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Iqcn
IQ motif containing N
ISO
ClinVar Annotator: match by term: Spermatogenic failure 78
OMIM ClinVar
PMID:25741868 PMID:36321563
NCBI chr16:18,716,519...18,733,971
Ensembl chr16:18,716,519...18,726,261
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Kcnu1
potassium calcium-activated channel subfamily U member 1
ISO
ClinVar Annotator: match by term: Spermatogenic failure 79
OMIM ClinVar
PMID:34980136 PMID:35551387
NCBI chr16:66,141,696...66,229,493
Ensembl chr16:66,141,976...66,229,465
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Nr5a1
nuclear receptor subfamily 5, group A, member 1
ISO
ClinVar Annotator: match by term: Spermatogenic failure 8 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:20887963 PMID:25741868 PMID:25989977 PMID:28492532 PMID:35690514 PMID:36572623 More...
NCBI chr 3:22,464,786...22,486,328
Ensembl chr 3:22,465,502...22,486,328
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Drc1
dynein regulatory complex subunit 1
ISO
ClinVar Annotator: match by term: DRC1-related condition | ClinVar Annotator: match by term: Spermatogenic failure 80
OMIM ClinVar
PMID:23354437 PMID:25741868 PMID:28492532 PMID:31960620 PMID:34169321
NCBI chr 6:26,025,004...26,059,438
Ensembl chr 6:26,025,005...26,059,414
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Tekt3
tektin 3
ISO
ClinVar Annotator: match by term: Spermatogenic failure 81
OMIM ClinVar
PMID:36708031
NCBI chr10:47,729,635...47,763,589
Ensembl chr10:47,729,635...47,763,588
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Akap3
A-kinase anchoring protein 3
ISO
ClinVar Annotator: match by term: Spermatogenic failure 82
OMIM ClinVar
NCBI chr 4:159,688,049...159,714,067
Ensembl chr 4:159,699,289...159,713,903
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Dnali1
dynein, axonemal, light intermediate chain 1
ISO
ClinVar Annotator: match by term: Spermatogenic failure 83
OMIM ClinVar
PMID:36792588
NCBI chr 5:137,318,475...137,327,313
Ensembl chr 5:137,318,477...137,327,336
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Cfap61
cilia and flagella associated protein 61
ISO
ClinVar Annotator: match by term: Spermatogenic failure 84
OMIM ClinVar
PMID:34792097 PMID:35174165 PMID:35387802
NCBI chr 3:133,354,400...133,633,310
Ensembl chr 3:133,354,197...133,633,320
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Spaca1
sperm acrosome associated 1
ISO
ClinVar Annotator: match by term: Spermatogenic failure 85
OMIM ClinVar
PMID:34172998
NCBI chr 5:48,525,406...48,540,676
Ensembl chr 5:48,525,406...48,540,711
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Actl7a
actin-like 7a
ISO
ClinVar Annotator: match by term: Spermatogenic failure 86
OMIM ClinVar
PMID:32923619 PMID:34727571 PMID:36593593 PMID:37004249
NCBI chr 5:71,447,447...71,450,440
Ensembl chr 5:71,447,071...71,450,908
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Acr
acrosin
ISO
ClinVar Annotator: match by term: Spermatogenic failure 87
OMIM ClinVar
PMID:37004249
NCBI chr 7:120,636,581...120,644,474
Ensembl chr 7:120,638,321...120,644,474
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Kash5
KASH domain containing 5
ISO
ClinVar Annotator: match by term: Spermatogenic failure 88
OMIM ClinVar
PMID:25741868 PMID:29790874 PMID:35587281 PMID:35674372 PMID:36864840
NCBI chr 1:95,668,918...95,691,353
Ensembl chr 1:95,668,886...95,691,368
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Ak9
adenylate kinase 9
ISO
ClinVar Annotator: match by term: Spermatogenic failure 89
OMIM ClinVar
PMID:37713809
NCBI chr20:44,724,494...44,941,135
Ensembl chr20:44,724,496...44,941,136
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Dpy19l2
dpy-19 like 2
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Spermatogenic failure 9
OMIM CTD ClinVar
PMID:15533374 PMID:21397063 PMID:21397064 PMID:22627659 PMID:22653751 PMID:25741868 PMID:28492532 PMID:33108537 More...
NCBI chr 8:23,062,592...23,181,817
Ensembl chr 8:23,063,115...23,181,798
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Armc12
armadillo repeat containing 12
ISO
ClinVar Annotator: match by term: Spermatogenic failure 90
OMIM ClinVar
PMID:35534203
NCBI chr20:6,587,859...6,598,355
Ensembl chr20:6,587,859...6,598,352
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Atg5
autophagy related 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:37506864
NCBI chr20:47,798,217...47,889,216
Ensembl chr20:47,798,290...47,889,209
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Fam83f
family with sequence similarity 83, member F
ISO
ClinVar Annotator: match by term: Teratozoospermia
ClinVar
PMID:25741868
NCBI chr 7:112,211,164...112,240,454
Ensembl chr 7:112,211,164...112,240,452
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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
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Nectin3
nectin cell adhesion molecule 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28689229
NCBI chr11:54,362,712...54,469,351
Ensembl chr11:54,364,487...54,462,519
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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
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Ythdc2
YTH N6-methyladenosine RNA binding protein C2
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:34822792
NCBI chr18:37,266,559...37,331,681
Ensembl chr18:37,265,836...37,331,023
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Cfap52
cilia and flagella associated protein 52
ISO
ClinVar Annotator: match by term: Heterotaxy, visceral, 10, autosomal, with male infertility
OMIM ClinVar
PMID:25469542 PMID:25741868 PMID:33139725
NCBI chr10:52,613,761...52,654,922
Ensembl chr10:52,613,762...52,654,934
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Cfap45
cilia and flagella associated protein 45
ISO
ClinVar Annotator: match by term: Heterotaxy, visceral, 11, autosomal, with male infertility
OMIM ClinVar
PMID:33139725
NCBI chr13:84,989,474...85,012,880
Ensembl chr13:84,981,728...85,012,878
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Mns1
meiosis-specific nuclear structural 1
ISO
ClinVar Annotator: match by term: Heterotaxy, visceral, 9, autosomal, with male infertility | ClinVar Annotator: match by term: MNS1-related condition
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:30148830 PMID:31534215
NCBI chr 8:73,148,877...73,169,570
Ensembl chr 8:73,148,877...73,176,925
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Tex9
testis expressed 9
ISO
ClinVar Annotator: match by term: Heterotaxy, visceral, 9, autosomal, with male infertility | ClinVar Annotator: match by term: MNS1-related condition
ClinVar
PMID:25741868 PMID:28492532 PMID:30148830 PMID:31534215
NCBI chr 8:73,168,519...73,213,935
Ensembl chr 8:73,177,810...73,214,261
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Adgrg2
adhesion G protein-coupled receptor G2
ISO
ClinVar Annotator: match by term: Vas deferens, congenital bilateral aplasia of, X-linked
OMIM ClinVar
PMID:25741868 PMID:27476656
NCBI chr X:34,297,402...34,422,590
Ensembl chr X:34,297,402...34,422,609
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Tex11
testis expressed 11
ISO
ClinVar Annotator: match by term: MALE INFERTILITY FROM DEFECT IN MEIOSIS | ClinVar Annotator: match by term: Spermatogenic failure, X-linked, 2 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:25741868 PMID:25970010 PMID:28492532
NCBI chr X:65,932,904...66,196,525
Ensembl chr X:65,932,988...66,196,187
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Cfap47
cilia and flagella associated protein 47
ISO
ClinVar Annotator: match by term: Spermatogenic failure, X-linked, 3
OMIM ClinVar
PMID:25741868 PMID:33472045
NCBI chr X:43,264,687...43,616,607
Ensembl chr X:43,263,490...43,616,852
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Ssx1
SSX family member 1
ISO
ClinVar Annotator: match by term: Spermatogenic failure, X-linked, 5
OMIM ClinVar
PMID:25741868 PMID:36796361
NCBI chr X:13,931,433...13,939,732
Ensembl chr X:13,931,470...13,939,720
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Usp26
ubiquitin specific peptidase 26
ISO
ClinVar Annotator: match by term: Spermatogenic failure, X-linked, 6
OMIM ClinVar
PMID:34202084
NCBI chr X:131,317,200...131,363,964
Ensembl chr X:131,319,194...131,363,970
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Ct55
cancer/testis antigen 55
ISO
ClinVar Annotator: match by term: Spermatogenic failure, X-linked, 7
OMIM ClinVar
PMID:36481789
NCBI chr X:133,502,545...133,515,730
Ensembl chr X:133,502,869...133,515,529
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Cftr
CF transmembrane conductance regulator
ISO
ClinVar Annotator: match by term: Spermatogenic failure, Y-linked, 2
ClinVar
PMID:1380943 PMID:1712898 PMID:1723032 PMID:1998343 PMID:11186891 PMID:11280952 PMID:11484207 PMID:11924117 PMID:12767731 PMID:15357568 PMID:15371902 PMID:15614862 PMID:15994263 PMID:17127107 PMID:17348320 PMID:18456578 PMID:19885835 PMID:20301428 PMID:20865572 PMID:21228398 PMID:21520337 PMID:21679131 PMID:22020151 PMID:22658665 PMID:22975760 PMID:23751316 PMID:23891399 PMID:23951356 PMID:23974870 PMID:24440181 PMID:25087612 PMID:25326635 PMID:25489051 PMID:25741868 PMID:25799511 PMID:26075213 PMID:26208274 PMID:26467025 PMID:26823392 PMID:28492532 PMID:28603918 PMID:28655774 PMID:29208182 PMID:29261177 PMID:30293248 PMID:31019283 PMID:31036917 PMID:31523618 PMID:31589614 PMID:32220772 PMID:32429104 PMID:34190021 PMID:34426522 More...
NCBI chr 4:46,561,269...46,728,759
Ensembl chr 4:46,560,885...46,728,756
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Ddx3y
DEAD box helicase 3, Y-linked
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
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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
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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
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Usp9y
ubiquitin specific peptidase 9, Y-linked
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hypospermatogenesis, nonobstructive, Y-linked | ClinVar Annotator: match by term: Spermatogenic failure, Y-linked, 2
OMIM CTD ClinVar
PMID:9384609 PMID:10402373 PMID:10507722 PMID:10767340 PMID:19246359 PMID:25741868 More...
NCBI chr Y:1,156,135...1,300,965
Ensembl chr Y:1,156,135...1,300,943
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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
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