RGD DISEASE ONTOLOGY - ANNOTATIONS
RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term: male infertility
Accession: DOID:12336
browse the term
Definition: The inability of the male to effect FERTILIZATION of an OVUM after a specified period of unprotected intercourse. Male sterility is permanent infertility.
Synonyms: exact_synonym: male sterility; male sub-fertility; male subfertility
primary_id: MESH:D007248
xref: ICD10CM:N46 ; ICD9CM:606
For additional species annotation, visit the
Alliance of Genome Resources .
G
Ace
angiotensin I converting enzyme
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8642790 PMID:12075344
NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
G
Actl7a
actin-like 7a
ISO
RGD
PMID:26957350
RGD:13831339
NCBI chr 5:71,447,447...71,450,440
Ensembl chr 5:71,447,071...71,450,908
G
Adamts16
ADAM metallopeptidase with thrombospondin type 1 motif, 16
IMP
RGD
PMID:24983376 PMID:32037220
RGD:13434925 , RGD:38548917
NCBI chr 1:32,430,436...32,562,481
Ensembl chr 1:32,430,436...32,560,494
G
Adamts16em1Bj
ADAM metallopeptidase with thrombospondin type 1 motif, 16; ZFN mutant1,Bj
IMP
RGD
PMID:24983376 PMID:32037220
RGD:13434925 , RGD:38548917
G
Adcy10
adenylate cyclase 10
ISO
ClinVar Annotator: match by term: Male infertility
ClinVar
NCBI chr13:77,747,752...77,833,952
Ensembl chr13:77,768,468...77,833,951
G
Ahr
aryl hydrocarbon receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21613234
NCBI chr 6:52,234,089...52,271,568
Ensembl chr 6:52,234,089...52,271,568
G
Akap4
A-kinase anchoring protein 4
ISO
RGD
PMID:12167408
RGD:632500
NCBI chr X:15,435,391...15,445,684
Ensembl chr X:15,435,410...15,445,684
G
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
G
Ar
androgen receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12220434 PMID:18554162 PMID:20164437
NCBI chr X:63,104,771...63,273,934
Ensembl chr X:63,104,771...63,273,925
G
Arl2bp
ADP-ribosylation factor like GTPase 2 binding protein
ISS
MouseDO
NCBI chr19:10,336,921...10,346,555
Ensembl chr19:10,336,921...10,346,564
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...66,864,348
Ensembl chr 1:66,843,653...66,864,386
G
Bax
BCL2 associated X, apoptosis regulator
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:24723216 PMID:7569956
RGD:734632
NCBI chr 1:95,940,001...95,945,407
Ensembl chr 1:95,938,808...95,945,368
G
Bcl2
BCL2, apoptosis regulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24723216
NCBI chr13:22,689,783...22,853,920
G
Brwd1
bromodomain and WD repeat domain containing 1
ISO
ClinVar Annotator: match by term: Male infertility
ClinVar
NCBI chr11:35,286,364...35,378,768
Ensembl chr11:35,288,313...35,378,768
G
Bscl2
BSCL2 lipid droplet biogenesis associated, seipin
ISS
MouseDO
NCBI chr 1:205,731,814...205,743,430
Ensembl chr 1:205,733,872...205,743,421
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
G
Camk4
calcium/calmodulin-dependent protein kinase IV
ISO
RGD
PMID:10932193
RGD:734683
NCBI chr18:24,582,988...24,811,918
Ensembl chr18:24,585,269...24,802,487
G
Capza3
capping actin protein of muscle Z-line subunit alpha 3
ISO
mRNA:decreased expression:semen DNA:missense mutation: :p.M44K (human)
RGD
PMID:27114798 PMID:19341723
RGD:18899565 , RGD:19165126
NCBI chr 4:172,929,273...172,930,486
Ensembl chr 4:172,928,887...172,932,535
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
G
Cbl
Cbl proto-oncogene
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16301331
NCBI chr 8:44,487,824...44,571,620
Ensembl chr 8:44,489,410...44,571,176
G
Ccdc40
coiled-coil domain containing 40
ISO
ClinVar Annotator: match by term: Male infertility
ClinVar
PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr10:104,486,748...104,527,284
Ensembl chr10:104,486,748...104,527,243
G
Cdc14a
cell division cycle 14A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29293958
NCBI chr 2:204,225,540...204,380,927
Ensembl chr 2:204,225,540...204,380,927
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
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: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: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 More...
NCBI chr 4:46,561,269...46,728,759
Ensembl chr 4:46,560,885...46,728,756
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
G
Cnot7
CCR4-NOT transcription complex, subunit 7
IEP
mRNA:increased expression:testis
RGD
PMID:22785219
RGD:10755341
NCBI chr16:51,775,416...51,794,581
Ensembl chr16:51,775,412...51,794,576
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
G
Cst8
cystatin 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20811015
NCBI chr 3:136,244,586...136,255,412
Ensembl chr 3:136,244,636...136,251,273
G
Cyp17a1
cytochrome P450, family 17, subfamily a, polypeptide 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15890676
NCBI chr 1:245,535,462...245,543,148
Ensembl chr 1:245,535,462...245,541,573
G
Cyp1a1
cytochrome P450, family 1, subfamily a, polypeptide 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19303595
NCBI chr 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125
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
G
Dnaaf4
dynein axonemal assembly factor 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23872636
NCBI chr 8:73,696,394...73,711,315
Ensembl chr 8:73,698,103...73,711,292
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 PMID:28492532
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:19357118 PMID:25741868 PMID:28492532 PMID:33574797
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
G
Drosha
drosha ribonuclease III
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22381205
NCBI chr 2:61,864,886...61,976,688
Ensembl chr 2:61,864,970...61,976,688
G
Elovl2
ELOVL fatty acid elongase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21106902
NCBI chr17:23,544,520...23,584,855
Ensembl chr17:23,544,568...23,584,848
G
Eno1
enolase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27460355
NCBI chr 5:160,719,951...160,731,337
Ensembl chr 5:160,719,951...160,731,336
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
G
Esr1
estrogen receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20833731 PMID:23213263
NCBI chr 1:41,106,335...41,499,104
Ensembl chr 1:41,210,475...41,495,002
G
Fas
Fas cell surface death receptor
IEP
protein:increased expression:testis (rat)
RGD
PMID:23441449
RGD:8663476
NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
G
Fkbp6
FKBP prolyl isomerase family member 6
ISO IAGP
DNA:deletion:exon (rat)
RGD
PMID:12764197 PMID:12764197
RGD:1582485 , RGD:1582485
NCBI chr12:21,318,251...21,390,350
Ensembl chr12:21,319,568...21,390,350
G
Foxk2
forkhead box K2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:32522586
NCBI chr10:106,542,643...106,592,569
Ensembl chr10:106,542,566...106,592,563
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
G
Galntl5
polypeptide N-acetylgalactosaminyltransferase-like 5
ISO
ClinVar Annotator: match by term: Male infertility
ClinVar
NCBI chr 4:9,873,426...9,923,297
Ensembl chr 4:9,873,428...9,923,136
G
Gnat3
G protein subunit alpha transducin 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23818598
NCBI chr 4:17,162,500...17,212,283
Ensembl chr 4:17,162,490...17,212,283
G
Gnrh1
gonadotropin releasing hormone 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:20063086
NCBI chr15:41,972,482...41,976,690
Ensembl chr15:41,972,905...41,973,581 Ensembl chr15:41,972,905...41,973,581
G
Gpx4
glutathione peroxidase 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19417079 PMID:19744930
NCBI chr 7:9,650,186...9,652,982
Ensembl chr 7:9,650,185...9,652,982
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
G
Hoxd13
homeo box D13
ISO
ClinVar Annotator: match by term: Male infertility
ClinVar
PMID:25741868
NCBI chr 3:59,570,647...59,573,963
Ensembl chr 3:59,570,646...59,573,963
G
Kit
KIT proto-oncogene receptor tyrosine kinase
IAGP
RGD
PMID:12932303
RGD:1600050
NCBI chr14:32,547,459...32,624,694
Ensembl chr14:32,548,877...32,624,652
G
Klk14
kallikrein related-peptidase 14
ISO
ClinVar Annotator: match by term: Male infertility
ClinVar
NCBI chr 1:94,123,131...94,137,239
Ensembl chr 1:94,131,998...94,137,240
G
Klk4
kallikrein-related peptidase 4
ISO
ClinVar Annotator: match by term: Male infertility
ClinVar
NCBI chr 1:94,344,608...94,348,979
Ensembl chr 1:94,344,195...94,349,424
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
G
Ldhc
lactate dehydrogenase C
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21565994 PMID:23486916
NCBI chr 1:97,385,984...97,403,382
Ensembl chr 1:97,382,379...97,403,378
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
G
Mtr
5-methyltetrahydrofolate-homocysteine methyltransferase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16861746
NCBI chr17:58,219,998...58,308,560
Ensembl chr17:58,220,071...58,304,822
G
Mtrr
5-methyltetrahydrofolate-homocysteine methyltransferase reductase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16861746
NCBI chr 1:34,866,991...34,899,425
Ensembl chr 1:34,867,089...34,899,425
G
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
G
Nanos2
nanos C2HC-type zinc finger 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22190708
NCBI chr 1:78,635,668...78,637,128
Ensembl chr 1:78,635,668...78,637,128
G
Nos3
nitric oxide synthase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25517965
NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
G
Nr1h4
nuclear receptor subfamily 1, group H, member 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30245210
NCBI chr 7:23,846,122...23,942,085
Ensembl chr 7:23,846,122...23,942,047
G
Nr5a1
nuclear receptor subfamily 5, group A, member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20887963
NCBI chr 3:22,464,786...22,486,328
Ensembl chr 3:22,465,502...22,486,328
G
Nsun7
NOP2/Sun RNA methyltransferase family member 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17442852
NCBI chr14:41,877,500...41,935,238
Ensembl chr14:41,879,293...41,934,949
G
Odad2
outer dynein arm docking complex subunit 2
ISO
ClinVar Annotator: match by term: Male infertility
ClinVar
NCBI chr17:55,216,877...55,409,872
Ensembl chr17:55,218,991...55,409,399
G
Ogg1
8-oxoguanine DNA glycosylase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23376476
NCBI chr 4:146,474,701...146,481,959
Ensembl chr 4:146,474,750...146,484,766
G
Pmfbp1
polyamine modulated factor 1 binding protein 1
ISS
MouseDO
NCBI chr19:37,443,432...37,507,880
Ensembl chr19:37,458,108...37,507,879
G
Polg
DNA polymerase gamma, catalytic subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17923349
NCBI chr 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567
G
Pon1
paraoxonase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21561808 PMID:22206979
NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360
G
Rad23b
RAD23 homolog B, nucleotide excision repair protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11809813
NCBI chr 5:70,090,232...70,128,340
Ensembl chr 5:70,090,232...70,128,319
G
Ranbp2
RAN binding protein 2
ISO
RGD
PMID:21310149
RGD:9835350
NCBI chr20:26,442,156...26,493,481
Ensembl chr20:26,442,217...26,493,481
G
Rnf114
ring finger protein 114
ISO
mRNA:decreased expression:testes (human)
RGD
PMID:12621547
RGD:1303956
NCBI chr 3:156,222,487...156,234,263
Ensembl chr 3:156,222,498...156,234,256
G
Rpgr
retinitis pigmentosa GTPase regulator
ISO
RGD
PMID:18579752
RGD:8553213
NCBI chr X:12,566,447...12,628,171
Ensembl chr X:12,566,645...12,747,882
G
Selenop
selenoprotein P
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17961124
NCBI chr 2:52,498,123...52,508,409
Ensembl chr 2:52,498,339...52,508,852
G
Smad1
SMAD family member 1
IEP
protein:decreased expression:spermatogonia, spermatocytes, spermatids
RGD
PMID:15704675
RGD:1643234
NCBI chr19:28,513,130...28,573,665
Ensembl chr19:28,513,131...28,573,651
G
Sod2
superoxide dismutase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22206979
NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
G
Sox30
SRY-box transcription factor 30
ISO
ClinVar Annotator: match by term: Male infertility
ClinVar
NCBI chr10:30,417,499...30,446,441
Ensembl chr10:30,418,473...30,446,453
G
Spata16
spermatogenesis associated 16
ISS
MouseDO
NCBI chr 2:109,485,287...109,865,665
Ensembl chr 2:109,485,274...109,865,659
G
Stx2
syntaxin 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18277055
NCBI chr12:27,678,744...27,714,751
Ensembl chr12:27,689,819...27,714,751
G
Sycp3
synaptonemal complex protein 3
ISO
ClinVar Annotator: match by term: Male infertility
ClinVar
NCBI chr 7:22,874,055...22,888,512
Ensembl chr 7:22,874,055...22,888,511
G
Tas1r3
taste 1 receptor member 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23818598
NCBI chr 5:166,469,589...166,472,742
Ensembl chr 5:166,469,589...166,472,742
G
Tcte1
t-complex-associated testis expressed 1
ISS
MouseDO
NCBI chr 9:15,463,573...15,482,258
Ensembl chr 9:15,463,739...15,472,954
G
Tdrd7
tudor domain containing 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21436445
NCBI chr 5:60,238,742...60,312,548
Ensembl chr 5:60,238,678...60,312,544
G
Tp53
tumor protein p53
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22773013
NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
G
Tsc22d3
TSC22 domain family, member 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22556341
NCBI chr X:104,217,898...104,277,935
Ensembl chr X:104,217,925...104,276,861
G
Txndc8
thioredoxin domain containing 8
ISO
protein:increased expression:sperm (human)
RGD
PMID:15181017
RGD:1303999
NCBI chr 5:72,749,725...72,785,858
Ensembl chr 5:72,749,725...72,785,931
G
Xrcc1
X-ray repair cross complementing 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30998386
NCBI chr 1:80,140,495...80,168,705
Ensembl chr 1:80,141,207...80,168,701
G
Zmynd15
zinc finger, MYND-type containing 15
ISO
ClinVar Annotator: match by term: Male infertility
ClinVar
NCBI chr10:55,171,198...55,177,812
Ensembl chr10:55,171,198...55,177,812
G
Ar
androgen receptor
ISO
ClinVar Annotator: match by term: Gynecomastia, familial
ClinVar
PMID:16804045
NCBI chr X:63,104,771...63,273,934
Ensembl chr X:63,104,771...63,273,925
G
Cyp19a1
cytochrome P450, family 19, subfamily a, polypeptide 1
ISO
ClinVar Annotator: match by term: Aromatase deficiency | ClinVar Annotator: match by term: Aromatase excess syndrome CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:1496995 PMID:1825497 PMID:2973313 PMID:8265607 PMID:8530621 PMID:9177373 PMID:9211678 PMID:9536098 PMID:9718379 PMID:10566648 PMID:12466340 PMID:14602738 PMID:14715828 PMID:16199547 PMID:16882736 PMID:17164303 PMID:17576681 PMID:20048079 PMID:20186154 PMID:23329769 PMID:25088806 PMID:25301327 PMID:25415177 PMID:25741868 PMID:27086564 PMID:27256151 PMID:27693882 PMID:28492532 More...
NCBI chr 8:54,553,165...54,580,758
Ensembl chr 8:54,553,165...54,580,758
G
Bscl2
BSCL2 lipid droplet biogenesis associated, seipin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26181198
NCBI chr 1:205,731,814...205,743,430
Ensembl chr 1:205,733,872...205,743,421
G
Cfap251
cilia and flagella associated protein 251
ISO
ClinVar Annotator: match by term: asthenozoospermia
ClinVar
PMID:30122541
NCBI chr12:33,261,622...33,337,028
Ensembl chr12:33,261,476...33,293,932
G
Gstt1
glutathione S-transferase theta 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19303595
NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585
G
Plau
plasminogen activator, urokinase
IEP ISO
mRNA, protein:decreased expression:testes, epididymis (rat) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:18998460 PMID:18998460
RGD:7241809
NCBI chr15:3,456,230...3,462,732
Ensembl chr15:3,456,232...3,462,775
G
Adgrg2
adhesion G protein-coupled receptor G2
ISO
ClinVar Annotator: match by term: Congenital bilateral aplasia of vas deferens from CFTR mutation
ClinVar
PMID:25741868 PMID:27476656
NCBI chr X:34,297,402...34,422,590
Ensembl chr X:34,297,402...34,422,609
G
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:1283148 PMID:1283149 PMID:1284466 PMID:1284534 PMID:1284538 PMID:1284540 PMID:1284639 PMID:1370875 PMID:1371265 PMID:1373935 PMID:1376016 PMID:1377276 PMID:1379210 PMID:1379413 PMID:1380673 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: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:2475911 PMID:2565038 PMID:2570460 PMID:5371902 PMID:7472820 PMID:7475569 PMID:7493947 PMID:7504969 PMID:7505694 PMID:7505767 PMID:7506096 PMID:7508414 PMID:7509310 PMID:7509683 PMID:7509684 PMID:7512860 PMID:7512993 PMID:7513293 PMID:7513889 PMID:7515303 PMID:7516234 PMID:7517264 PMID:7517268 PMID:7520798 PMID:7521710 PMID:7521937 PMID:7522211 PMID:7522329 PMID:7522901 PMID:7525450 PMID:7525963 PMID:7526685 PMID:7529319 PMID:7529962 PMID:7532150 PMID:7533604 PMID:7534040 PMID:7534226 PMID:7535742 PMID:7536669 PMID:7537147 PMID:7537148 PMID:7539080 PMID:7539342 PMID:7540133 PMID:7541274 PMID:7541510 PMID:7542778 PMID:7543317 PMID:7544319 PMID:7544320 PMID:7544788 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:7682196 PMID:7683628 PMID:7684641 PMID:7684644 PMID:7684646 PMID:7686423 PMID:7686577 PMID:7686820 PMID:7689008 PMID:7689009 PMID:7689013 PMID:7689897 PMID:7691344 PMID:7691345 PMID:7691356 PMID:7691813 PMID:7692051 PMID:7693946 PMID:7739684 PMID:7868128 PMID:8092189 PMID:8100293 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:8662892 PMID:8663008 PMID:8680406 PMID:8698344 PMID:8702904 PMID:8707304 PMID:8707306 PMID:8723695 PMID:8825927 PMID:8829633 PMID:8829643 PMID:8834261 PMID:8844211 PMID:8844213 PMID:8863168 PMID:8886242 PMID:8910333 PMID:8947061 PMID:8956039 PMID:9003498 PMID:9003508 PMID:9039981 PMID:9043501 PMID:9056552 PMID:9067754 PMID:9084934 PMID:9099843 PMID:9101293 PMID:9135274 PMID:9150159 PMID:9164051 PMID:9239681 PMID:9254864 PMID:9259194 PMID:9259197 PMID:9271620 PMID:9272157 PMID:9272738 PMID:9305991 PMID:9374552 PMID:9375855 PMID:9383031 PMID:9401110 PMID:9435322 PMID:9439669 PMID:9452048 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:9683582 PMID:9719631 PMID:9725922 PMID:9736778 PMID:9788722 PMID:9799593 PMID:9804160 PMID:9806422 PMID:9822639 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:10480369 PMID:10556281 PMID:10562297 PMID:10571955 PMID:10601093 PMID:10612827 PMID:10636451 PMID:10652351 PMID:10653141 PMID:10653145 PMID:10668931 PMID:10671057 PMID:10719683 PMID:10755189 PMID:10762539 PMID:10764788 PMID:10777364 PMID:10782933 PMID:10794365 PMID:10798368 PMID:10801389 PMID:10834512 PMID:10875853 PMID:10875876 PMID:10909845 PMID:10913957 PMID:10922395 PMID:10923036 PMID:10950058 PMID:10970190 PMID:10980579 PMID:10993719 PMID:11005149 PMID:11055897 PMID:11069835 PMID:11101688 PMID:11118444 PMID:11137998 PMID:11168024 PMID:11180668 PMID:11242048 PMID:11278813 PMID:11280952 PMID:11354633 PMID:11379874 PMID:11388756 PMID:11430710 PMID:11446424 PMID:11448786 PMID:11466205 PMID:11484207 PMID:11491164 PMID:11504857 PMID:11523757 PMID:11547256 PMID:11597353 PMID:11668613 PMID:11729110 PMID:11733566 PMID:11737931 PMID:11746017 PMID:11781704 PMID:11788090 PMID:11788611 PMID:11796434 PMID:11810271 PMID:11883825 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:12437773 PMID:12439892 PMID:12452372 PMID:12454843 PMID:12544470 PMID:12578973 PMID:12651858 PMID:12658038 PMID:12719375 PMID:12732620 PMID:12752573 PMID:12759680 PMID:12767731 PMID:12815607 PMID:12843327 PMID:12843337 PMID:12865275 PMID:12900515 PMID:12919146 PMID:12938099 PMID:12940920 PMID:12955726 PMID:14526128 PMID:14618962 PMID:14623323 PMID:14685259 PMID:14685937 PMID:14963811 PMID:14993601 PMID:14998948 PMID:15017334 PMID:15024729 PMID:15025720 PMID:15070876 PMID:15084222 PMID:15084988 PMID:15088804 PMID:15097853 PMID:15121783 PMID:15126740 PMID:15141088 PMID:15151509 PMID:15176679 PMID:15181619 PMID:15246977 PMID:15287992 PMID:15300780 PMID:15333598 PMID:15354332 PMID:15365999 PMID:15367919 PMID:15371902 PMID:15371903 PMID:15371907 PMID:15371908 PMID:15463898 PMID:15463907 PMID:15480987 PMID:15482777 PMID:15509635 PMID:15520400 PMID:15536480 PMID:15537723 PMID:15614862 PMID:15638824 PMID:15666307 PMID:15698945 PMID:15698946 PMID:15705292 PMID:15727251 PMID:15738290 PMID:15744523 PMID:15758663 PMID:15772171 PMID:15775704 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:16126774 PMID:16128988 PMID:16132229 PMID:16137181 PMID:16189704 PMID:16196493 PMID:16199547 PMID:16202790 PMID:16240056 PMID:16263954 PMID:16266832 PMID:16272798 PMID:16283068 PMID:16283887 PMID:16339147 PMID:16417523 PMID:16429425 PMID:16436643 PMID:16436646 PMID:16443646 PMID:16478680 PMID:16488363 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:17098482 PMID:17137500 PMID:17175965 PMID:17206681 PMID:17234733 PMID:17235394 PMID:17272608 PMID:17314234 PMID:17329263 PMID:17331079 PMID:17347447 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:17539902 PMID:17560176 PMID:17572159 PMID:17576681 PMID:17594397 PMID:17594398 PMID:17617039 PMID:17662673 PMID:17692578 PMID:17718859 PMID:17850636 PMID:17890437 PMID:17901983 PMID:17968991 PMID:17975025 PMID:18078365 PMID:18178635 PMID:18180206 PMID:18230692 PMID:18234567 PMID:18279436 PMID:18301294 PMID:18305154 PMID:18306312 PMID:18373402 PMID:18394117 PMID:18421494 PMID:18449561 PMID:18456578 PMID:18467194 PMID:18493878 PMID:18507830 PMID:18567645 PMID:18597042 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:19181743 PMID:19202204 PMID:19212293 PMID:19227414 PMID:19318035 PMID:19318346 PMID:19324992 PMID:19359498 PMID:19372188 PMID:19406970 PMID:19447078 PMID:19540513 PMID:19550280 PMID:19652440 PMID:19707853 PMID:19710401 PMID:19724303 PMID:19734299 PMID:19810821 PMID:19812525 PMID:19823873 PMID:19833837 PMID:19837664 PMID:19843100 PMID:19846789 PMID:19878303 PMID:19880712 PMID:19885835 PMID:19893581 PMID:19897426 PMID:19910374 PMID:19914431 PMID:19914443 PMID:19925455 PMID:20021716 PMID:20059485 PMID:20100616 PMID:20167849 PMID:20186691 PMID:20301428 PMID:20351098 PMID:20351101 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:20657600 PMID:20659818 PMID:20667826 PMID:20687163 PMID:20691141 PMID:20696241 PMID:20705837 PMID:20706124 PMID:20722470 PMID:20797923 PMID:20837875 PMID:20846557 PMID:20849526 PMID:20865572 PMID:20880762 PMID:20923678 PMID:20932301 PMID:20949073 PMID:20976528 PMID:20977904 PMID:21068670 PMID:21083385 PMID:21097845 PMID:21111762 PMID:21131649 PMID:21152102 PMID:21184098 PMID:21198395 PMID:21228398 PMID:21354377 PMID:21411740 PMID:21416780 PMID:21429822 PMID:21474639 PMID:21483833 PMID:21486785 PMID:21507732 PMID:21520337 PMID:21538969 PMID:21594800 PMID:21636331 PMID:21658649 PMID:21679131 PMID:21716075 PMID:21779199 PMID:21783433 PMID:21796730 PMID:21811577 PMID:21858268 PMID:21907281 PMID:21909392 PMID:21965669 PMID:21983161 PMID:21983488 PMID:21998193 PMID:22020151 PMID:22043142 PMID:22047557 PMID:22148899 PMID:22156145 PMID:22210114 PMID:22293084 PMID:22310382 PMID:22318583 PMID:22332135 PMID:22366207 PMID:22369017 PMID:22395041 PMID:22423042 PMID:22427236 PMID:22439019 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: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:23055971 PMID:23065710 PMID:23067305 PMID:23076339 PMID:23082198 PMID:23104983 PMID:23206872 PMID:23240968 PMID:23261175 PMID:23276700 PMID:23302613 PMID:23313410 PMID:23361109 PMID:23378603 PMID:23379606 PMID:23381846 PMID:23420618 PMID:23430892 PMID:23466340 PMID:23503723 PMID:23514810 PMID:23523379 PMID:23590265 PMID:23613805 PMID:23628510 PMID:23656801 PMID:23666117 PMID:23670503 PMID:23687349 PMID:23688510 PMID:23751316 PMID:23757359 PMID:23757361 PMID:23765052 PMID:23810505 PMID:23857699 PMID:23883480 PMID:23891399 PMID:23924900 PMID:23933162 PMID:23951356 PMID:23974870 PMID:24019231 PMID:24033266 PMID:24058550 PMID:24066763 PMID:24081349 PMID:24082139 PMID:24106596 PMID:24129438 PMID:24204751 PMID:24225052 PMID:24243928 PMID:24375076 PMID:24388274 PMID:24418186 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:24784896 PMID:24813944 PMID:24816901 PMID:24958810 PMID:24973281 PMID:25024266 PMID:25033378 PMID:25042876 PMID:25049054 PMID:25060775 PMID:25066652 PMID:25087612 PMID:25122143 PMID:25133958 PMID:25145599 PMID:25148434 PMID:25171465 PMID:25251442 PMID:25266159 PMID:25287046 PMID:25304080 PMID:25308578 PMID:25311995 PMID:25326635 PMID:25363320 PMID:25383785 PMID:25443471 PMID:25452595 PMID:25473543 PMID:25489051 PMID:25492507 PMID:25525159 PMID:25580864 PMID:25583415 PMID:25608981 PMID:25651269 PMID:25658530 PMID:25667564 PMID:25674778 PMID:25682022 PMID:25688174 PMID:25697318 PMID:25698453 PMID:25704068 PMID:25732475 PMID:25735457 PMID:25741868 PMID:25741869 PMID:25754095 PMID:25755212 PMID:25763566 PMID:25781545 PMID:25797027 PMID:25799511 PMID:25824995 PMID:25826586 PMID:25867140 PMID:25869325 PMID:25880441 PMID:25905921 PMID:25910067 PMID:25963003 PMID:25981758 PMID:26003066 PMID:26014425 PMID:26070913 PMID:26075213 PMID:26087176 PMID:26095523 PMID:26135562 PMID:26146130 PMID:26149808 PMID:26160248 PMID:26199320 PMID:26208274 PMID:26277102 PMID:26324139 PMID:26348465 PMID:26364555 PMID:26429520 PMID:26436105 PMID:26437683 PMID:26467025 PMID:26471113 PMID:26474553 PMID:26494713 PMID:26500004 PMID:26526220 PMID:26568242 PMID:26574590 PMID:26581802 PMID:26618866 PMID:26627831 PMID:26631874 PMID:26648081 PMID:26651825 PMID:26708955 PMID:26755536 PMID:26795017 PMID:26823392 PMID:26826884 PMID:26846474 PMID:26847993 PMID:26911355 PMID:26946416 PMID:26948992 PMID:26976279 PMID:26990548 PMID:27022295 PMID:27081564 PMID:27086061 PMID:27143075 PMID:27145507 PMID:27158673 PMID:27171515 PMID:27209008 PMID:27214204 PMID:27222777 PMID:27264265 PMID:27298017 PMID:27334259 PMID:27364092 PMID:27447098 PMID:27449771 PMID:27469177 PMID:27625827 PMID:27659740 PMID:27660821 PMID:27728908 PMID:27738188 PMID:27745802 PMID:27773592 PMID:27805836 PMID:27812499 PMID:27870577 PMID:27898234 PMID:27917292 PMID:28040058 PMID:28129809 PMID:28152038 PMID:28163942 PMID:28185838 PMID:28194692 PMID:28196530 PMID:28325531 PMID:28371569 PMID:28392015 PMID:28408918 PMID:28419121 PMID:28465863 PMID:28492532 PMID:28502372 PMID:28544683 PMID:28546993 PMID:28603918 PMID:28606620 PMID:28608624 PMID:28611235 PMID:28646244 PMID:28651844 PMID:28711222 PMID:28736296 PMID:28771972 PMID:28785019 PMID:28800122 PMID:28801929 PMID:28830496 PMID:28863137 PMID:28930490 PMID:28947035 PMID:29099333 PMID:29099344 PMID:29126871 PMID:29133775 PMID:29168366 PMID:29178639 PMID:29216686 PMID:29261177 PMID:29279204 PMID:29292091 PMID:29327948 PMID:29360847 PMID:29431110 PMID:29451946 PMID:29484681 PMID:29497617 PMID:29504914 PMID:29520692 PMID:29589582 PMID:29590070 PMID:29614238 PMID:29668297 PMID:29685811 PMID:29750258 PMID:29754320 PMID:29779145 PMID:29805046 PMID:29807875 PMID:29944384 PMID:29997923 PMID:30030066 PMID:30046002 PMID:30081288 PMID:30089726 PMID:30134826 PMID:30146269 PMID:30230364 PMID:30232781 PMID:30279124 PMID:30348612 PMID:30420730 PMID:30444886 PMID:30488522 PMID:30540547 PMID:30548586 PMID:30561903 PMID:30602999 PMID:30609409 PMID:30698611 PMID:30845638 PMID:30873022 PMID:30888834 PMID:30930780 PMID:30938940 PMID:30996306 PMID:31005549 PMID:31028937 PMID:31036917 PMID:31126253 PMID:31130284 PMID:31180159 PMID:31199594 PMID:31213628 PMID:31245908 PMID:31268981 PMID:31328366 PMID:31331863 PMID:31350925 PMID:31447099 PMID:31523618 PMID:31589614 PMID:31672438 PMID:31674704 PMID:31759907 PMID:31776420 PMID:31788424 PMID:31808782 PMID:31883651 PMID:31916691 PMID:31978131 PMID:31980526 PMID:31990467 PMID:32003480 PMID:32126153 PMID:32150665 PMID:32172930 PMID:32204475 PMID:32357917 PMID:32414100 PMID:32429104 PMID:32484936 PMID:32512765 PMID:32539862 PMID:32687833 PMID:32773111 PMID:32777524 PMID:32784480 PMID:32819855 PMID:32934006 PMID:32935393 PMID:33020115 PMID:33083013 PMID:33260873 PMID:33270637 PMID:33341408 PMID:33374015 PMID:33424627 PMID:33572515 PMID:33686728 PMID:33922413 PMID:34426522 PMID:34583889 PMID:63921865 PMID:238191399 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
Aurkc
aurora kinase C
ISO
ClinVar Annotator: match by term: Spermatogenic Failure
ClinVar
NCBI chr 1:66,843,653...66,864,348
Ensembl chr 1:66,843,653...66,864,386
G
Bcl2
BCL2, apoptosis regulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20610805
NCBI chr13:22,689,783...22,853,920
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 chr14:2,421,094...2,445,842
Ensembl chr14:2,387,796...2,445,842
G
Bscl2
BSCL2 lipid droplet biogenesis associated, seipin
IMP
RGD
PMID:25934999
RGD:11085488
NCBI chr 1:205,731,814...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:1715308 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:7522329 PMID:7524913 PMID:7529319 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:7691356 PMID:7691813 PMID:7692051 PMID:7739684 PMID:8092189 PMID:8421472 PMID:8556303 PMID:8605891 PMID:8662892 PMID:8698344 PMID:8702904 PMID:8825927 PMID:8844211 PMID:8886242 PMID:8956039 PMID:8968585 PMID:9108869 PMID:9135274 PMID:9259194 PMID:9259197 PMID:9272157 PMID:9435322 PMID:9439669 PMID:9459534 PMID:9536098 PMID:9550361 PMID:9557894 PMID:9618063 PMID:9788722 PMID:9804160 PMID:9921909 PMID:9950763 PMID:10103316 PMID:10341008 PMID:10425036 PMID:10556281 PMID:10571949 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:11069835 PMID:11168024 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:12127423 PMID:12133923 PMID:12167682 PMID:12767731 PMID:12955726 PMID:14618962 PMID:14685937 PMID:14963811 PMID:14993601 PMID:15070876 PMID:15097853 PMID:15141088 PMID:15246977 PMID:15367919 PMID:15371902 PMID:15463907 PMID:15486385 PMID:15536480 PMID:15619635 PMID:15775704 PMID:15857421 PMID:15858154 PMID:15880796 PMID:15905293 PMID:15952991 PMID:15987793 PMID:16020494 PMID:16049310 PMID:16134171 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:17206681 PMID:17314234 PMID:17329263 PMID:17407485 PMID:17407489 PMID:17413420 PMID:17489851 PMID:17572159 PMID:17576681 PMID:17594397 PMID:17594398 PMID:17617039 PMID:17662673 PMID:17681820 PMID:17692578 PMID:17719933 PMID:18078365 PMID:18178635 PMID:18180206 PMID:18234567 PMID:18301294 PMID:18394117 PMID:18456578 PMID:18501000 PMID:18507830 PMID:18567645 PMID:18685558 PMID:18687795 PMID:18778819 PMID:18796364 PMID:18951463 PMID:19014055 PMID:19092437 PMID:19092444 PMID:19202204 PMID:19212293 PMID:19227414 PMID:19318035 PMID:19406970 PMID:19707853 PMID:19812525 PMID:19833837 PMID:19837664 PMID:19843100 PMID:19878303 PMID:19880712 PMID:19885835 PMID:19925455 PMID:20021716 PMID:20059485 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:21411740 PMID:21486785 PMID:21507732 PMID:21520337 PMID:21538969 PMID:21594800 PMID:21658649 PMID:21679131 PMID:21804385 PMID:21907281 PMID:21965669 PMID:21983488 PMID:22020151 PMID:22156145 PMID:22310382 PMID:22332135 PMID:22366207 PMID:22369017 PMID:22427236 PMID:22449949 PMID:22569626 PMID:22572128 PMID:22658665 PMID:22664493 PMID:22680785 PMID:22842702 PMID:22975760 PMID:22981120 PMID:22992668 PMID:22999299 PMID:23067305 PMID:23082198 PMID:23104983 PMID:23378603 PMID:23379606 PMID:23381846 PMID:23420618 PMID:23613805 PMID:23656801 PMID:23716676 PMID:23721890 PMID:23751316 PMID:23810505 PMID:23846440 PMID:23857699 PMID:23883480 PMID:23891399 PMID:23951356 PMID:23974870 PMID:24033266 PMID:24082139 PMID:24106596 PMID:24375076 PMID:24418186 PMID:24419263 PMID:24435787 PMID:24440181 PMID:24451227 PMID:24559724 PMID:24586523 PMID:24631642 PMID:24696795 PMID:24958810 PMID:24973281 PMID:25033378 PMID:25087612 PMID:25148434 PMID:25251442 PMID:25287046 PMID:25304080 PMID:25583415 PMID:25608981 PMID:25698453 PMID:25735457 PMID:25741868 PMID:25741869 PMID:25763566 PMID:25797027 PMID:25799511 PMID:25824995 PMID:25826586 PMID:25910067 PMID:25981758 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:26846474 PMID:26900683 PMID:26911355 PMID:26976279 PMID:26990548 PMID:27086061 PMID:27171515 PMID:27209008 PMID:27214204 PMID:27298017 PMID:27334259 PMID:27364092 PMID:27447098 PMID:27469177 PMID:27659740 PMID:27738188 PMID:27787503 PMID:27805836 PMID:27898234 PMID:28129809 PMID:28325531 PMID:28419121 PMID:28492532 PMID:28544683 PMID:28546993 PMID:28603918 PMID:28606620 PMID:28736296 PMID:28930490 PMID:29099333 PMID:29099344 PMID:29126871 PMID:29261177 PMID:29327948 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:30561903 PMID:30602999 PMID:30609409 PMID:30888834 PMID:30930780 PMID:30938940 PMID:31028937 PMID:31036917 PMID:31199594 PMID:31213628 PMID:31447099 PMID:31523618 PMID:31589614 PMID:31776420 PMID:31788424 PMID:31808782 PMID:31980526 PMID:32414100 PMID:32429104 PMID:32935393 PMID:33020115 PMID:33083013 PMID:33270637 PMID:33572515 PMID:33972190 More...
NCBI chr 4:46,561,269...46,728,759
Ensembl chr 4:46,560,885...46,728,756
G
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
G
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
G
Epas1
endothelial PAS domain protein 1
ISO
RGD
PMID:14608355
RGD:734934
NCBI chr 6:7,790,236...7,871,246
Ensembl chr 6:7,790,647...7,871,228
G
Ercc1
ERCC excision repair 1, endonuclease non-catalytic subunit
susceptibility
ISO
DNA:snp:3' utr:c.8092C>A (human)
RGD
PMID:18616887
RGD:13207429
NCBI chr 1:78,971,310...79,007,963
Ensembl chr 1:78,996,390...79,007,963
G
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
G
Fancm
FA complementation group M
ISO
ClinVar Annotator: match by term: Azoospermia
ClinVar
PMID:17289582 PMID:18174376 PMID:19379763 PMID:23932590 PMID:24003026 PMID:25741868 PMID:26130695 PMID:28492532 PMID:28702895 PMID:28837162 PMID:30075111 More...
NCBI chr 6:83,126,903...83,180,455
Ensembl chr 6:83,127,093...83,180,028
G
Gopc
golgi associated PDZ and coiled-coil motif containing
ISS
OMIM:102530 | OMIM:108420 | OMIM:243060 | OMIM:258150 | OMIM:270960 | OMIM:309120 | OMIM:415000 | OMIM:606766 | OMIM:612997 | OMIM:613957 | OMIM:613958 | OMIM:614822 | OMIM:615081 | OMIM:615413 | OMIM:615841 | OMIM:615842
MouseDO
NCBI chr20:31,727,617...31,776,928
Ensembl chr20:31,727,620...31,776,903
G
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
G
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
G
Hsd17b10
hydroxysteroid (17-beta) dehydrogenase 10
ISO
mRNA:increased expression:testis
RGD
PMID:9851691
RGD:13792783
NCBI chr X:21,089,152...21,091,597
Ensembl chr X:21,089,122...21,109,488
G
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
G
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
G
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
G
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
G
Mov10l1
Mov10 like RISC complex 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
G
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
G
Nlrp14
NLR family, pyrin domain containing 14
ISO
ClinVar Annotator: match by term: Spermatogenic Failure
ClinVar
PMID:16931801 PMID:20981092 PMID:22344438 PMID:24033266 PMID:25741868
NCBI chr 1:161,069,141...161,089,158
Ensembl chr 1:161,061,165...161,089,222
G
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
G
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
G
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
G
Sohlh1
spermatogenesis and oogenesis specific basic helix-loop-helix 1
ISO
ClinVar Annotator: match by term: Spermatogenic Failure
ClinVar
PMID:20506135 PMID:28492532 PMID:28718531
NCBI chr 3:8,662,995...8,667,521
Ensembl chr 3:8,663,318...8,667,388
G
Spata16
spermatogenesis associated 16
ISO
ClinVar Annotator: match by term: Spermatogenic Failure
ClinVar
NCBI chr 2:109,485,287...109,865,665
Ensembl chr 2:109,485,274...109,865,659
G
Sycp3
synaptonemal complex protein 3
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Spermatogenic Failure
CTD ClinVar
PMID:14643120
NCBI chr 7:22,874,055...22,888,512
Ensembl chr 7:22,874,055...22,888,511
G
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
G
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
G
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
G
Cldn2
claudin 2
ISO
ClinVar Annotator: match by term: Azoospermia, obstructive, with nephrolithiasis
ClinVar OMIM
PMID:31320686
NCBI chr X:103,459,870...103,473,794
Ensembl chr X:103,459,780...103,474,838
G
Adgrg2
adhesion G protein-coupled receptor G2
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr X:34,297,402...34,422,590
Ensembl chr X:34,297,402...34,422,609
G
Cftr
CF transmembrane conductance regulator
ISO IMP
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Congenital bilateral absence of the vas deferens associated with Cystic Fibrosis DNA:deletion, missense mutations: :multiple DNA:deletion, nonsense mutations, missense mutations: :multiple
CTD ClinVar RGD
PMID:7539342 PMID:8530001 PMID:8662892 PMID:9239681 PMID:9598638 PMID:10762539 PMID:10875853 PMID:11101688 PMID:11119745 PMID:12815607 PMID:12955726 PMID:15070876 PMID:16189704 PMID:17331079 PMID:18951463 PMID:20460946 PMID:20837875 PMID:20880762 PMID:21228398 PMID:21520337 PMID:22992668 PMID:23891399 PMID:23974870 PMID:24033266 PMID:25087612 PMID:25741868 PMID:26014425 PMID:26467025 PMID:26708955 PMID:27171515 PMID:27469177 PMID:28492532 PMID:28603918 PMID:28800122 PMID:30873022 PMID:31268981 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
G
Cftrem1Sage
cystic fibrosis transmembrane conductance regulator; ZFN induced mutant 1 Sage
IMP
RGD
PMID:24608905
RGD:11566051
G
M1ap
meiosis 1 associated protein
ISO
ClinVar Annotator: match by term: Cryptozoospermia
ClinVar
PMID:25741868 PMID:32673564
NCBI chr 4:115,445,910...115,536,745
Ensembl chr 4:115,455,397...115,536,487
G
Sycp2
synaptonemal complex protein 2
ISO
ClinVar Annotator: match by term: Cryptozoospermia
ClinVar
PMID:25741868 PMID:31866047
NCBI chr 3:165,431,715...165,502,134
Ensembl chr 3:165,436,331...165,498,789
G
Trim71
tripartite motif containing 71
ISO
ClinVar Annotator: match by term: Cryptozoospermia
ClinVar
PMID:25741868
NCBI chr 8:114,193,439...114,250,807
Ensembl chr 8:114,199,187...114,250,807
G
Fshb
follicle stimulating hormone subunit beta
ISO
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 24 without anosmia
OMIM 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 More...
NCBI chr 3:93,548,560...93,552,370
Ensembl chr 3:93,548,560...93,552,370
G
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
G
Cntrobhd
centrobin, centriole duplication and spindle assembly protein; hypodacty mutant
IAGP
DNA:insertion:intron 10 (rat)
RGD
PMID:19710508
RGD:150521555
G
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
G
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
G
Cep19
centrosomal protein 19
ISO
ClinVar Annotator: match by term: Morbid obesity and spermatogenic failure
OMIM ClinVar
PMID:24268657 PMID:25741868 PMID:28492532
NCBI chr11:68,677,869...68,687,117
Ensembl chr11:68,677,871...68,687,022
G
Agfg1
ArfGAP with FG repeats 1
ISS
MouseDO
NCBI chr 9:84,124,878...84,178,149
Ensembl chr 9:84,125,120...84,178,128
G
Cfap58
cilia and flagella associated protein 58
ISS
MouseDO
NCBI chr 1:246,802,681...246,911,363
Ensembl chr 1:246,802,665...246,911,374
G
Spata20
spermatogenesis associated 20
ISS
MouseDO
NCBI chr10:79,427,525...79,435,472
Ensembl chr10:79,427,528...79,434,368
G
Bckdk
branched chain ketoacid dehydrogenase kinase
IAGP
DNA:missense mutation:cds:G369E (rat)
RGD
PMID:27472223
RGD:39131293
NCBI chr 1:182,515,335...182,520,007
Ensembl chr 1:182,515,327...182,536,633
G
Brdt
bromodomain testis associated
susceptibility
ISO
DNA:SNP: :rs3088232(human)
RGD
PMID:22016351
RGD:9586360
NCBI chr14:2,421,094...2,445,842
Ensembl chr14:2,387,796...2,445,842
G
Brwd1
bromodomain and WD repeat domain containing 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18353305
NCBI chr11:35,286,364...35,378,768
Ensembl chr11:35,288,313...35,378,768
G
Bscl2
BSCL2 lipid droplet biogenesis associated, seipin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26181198
NCBI chr 1:205,731,814...205,743,430
Ensembl chr 1:205,733,872...205,743,421
G
Cdc14a
cell division cycle 14A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29293958
NCBI chr 2:204,225,540...204,380,927
Ensembl chr 2:204,225,540...204,380,927
G
Cga
glycoprotein hormones, alpha polypeptide
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:16483355
NCBI chr 5:49,486,915...49,499,192
Ensembl chr 5:49,487,068...49,499,191
G
Dicer1
dicer 1 ribonuclease III
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22381205
NCBI chr 6:123,627,529...123,692,278
Ensembl chr 6:123,631,250...123,693,965
G
Esr1
estrogen receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20833731
NCBI chr 1:41,106,335...41,499,104
Ensembl chr 1:41,210,475...41,495,002
G
Fshb
follicle stimulating hormone subunit beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:4607150
NCBI chr 3:93,548,560...93,552,370
Ensembl chr 3:93,548,560...93,552,370
G
Hoxd13
homeo box D13
ISO
ClinVar Annotator: match by term: Oligozoospermia
ClinVar
PMID:25741868
NCBI chr 3:59,570,647...59,573,963
Ensembl chr 3:59,570,646...59,573,963
G
Kif3b
kinesin family member 3B
ISO
ClinVar Annotator: match by term: Oligospermia
ClinVar
NCBI chr 3:141,758,466...141,798,012
Ensembl chr 3:141,758,466...141,797,963
G
Msh4
mutS homolog 4
ISO
ClinVar Annotator: match by term: Oligospermia
ClinVar
PMID:25741868 PMID:33448284
NCBI chr 2:242,785,392...242,844,609
Ensembl chr 2:242,792,661...242,843,487
G
Nos3
nitric oxide synthase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29983398
NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
G
Nr0b1
nuclear receptor subfamily 0, group B, member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23384712
NCBI chr X:50,756,886...50,761,014
Ensembl chr X:50,756,886...50,761,011
G
Piwil4
piwi-like RNA-mediated gene silencing 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20940137
NCBI chr 8:11,536,520...11,579,883
Ensembl chr 8:11,536,520...11,579,761
G
Tbc1d25
TBC1 domain family, member 25
ISO
ClinVar Annotator: match by term: Oligospermia
ClinVar
NCBI chr X:14,314,095...14,339,171
Ensembl chr X:14,314,414...14,338,275
G
Tpcn1
two pore segment channel 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24451262
NCBI chr12:35,972,813...36,029,632
Ensembl chr12:35,972,846...36,029,626
G
Ythdc2
YTH domain containing 2
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:34822792
NCBI chr18:37,266,559...37,331,681
Ensembl chr18:37,265,836...37,331,023
G
Catsper2
cation channel, sperm associated 2
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Deafness-infertility syndrome
CTD ClinVar
PMID:19344877 PMID:24033266 PMID:25741868
NCBI chr 3:108,368,654...108,389,380
Ensembl chr 3:108,368,668...108,388,050
G
Ckmt1
creatine kinase, mitochondrial 1
ISO
ClinVar Annotator: match by term: Deafness-infertility syndrome
ClinVar
PMID:25741868
NCBI chr 3:108,329,859...108,335,760
Ensembl chr 3:108,330,705...108,335,758
G
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
G
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
G
Strc
stereocilin
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Deafness-infertility syndrome
CTD ClinVar
PMID:18414213 PMID:24033266 PMID:25741868
NCBI chr 3:108,335,920...108,355,114
Ensembl chr 3:108,335,747...108,354,134
G
Dmc1
DNA meiotic recombinase 1
ISS
OMIM:305700 | OMIM:400042
MouseDO
NCBI chr 7:111,124,888...111,167,465
Ensembl chr 7:111,124,888...111,167,952
G
Hnrnpl
heterogeneous nuclear ribonucleoprotein L
ISO
protein:decreased expression:testis (human)
RGD
PMID:22245417
RGD:9999426
NCBI chr 1:84,098,558...84,111,568
Ensembl chr 1:84,100,879...84,111,553
G
Nupr1
nuclear protein 1, transcriptional regulator
ISS
OMIM:305700 | OMIM:400042
MouseDO
NCBI chr 1:181,213,292...181,215,327
G
Aurkc
aurora kinase C
ISO
ClinVar Annotator: match by term: Spermatogenic Failure
ClinVar
NCBI chr 1:66,843,653...66,864,348
Ensembl chr 1:66,843,653...66,864,386
G
Dnah10
dynein, axonemal, heavy chain 10
ISS
MouseDO
NCBI chr12:31,823,451...31,946,857
Ensembl chr12:31,822,733...32,007,069
G
Nlrp14
NLR family, pyrin domain containing 14
ISO
ClinVar Annotator: match by term: Spermatogenic Failure
ClinVar
PMID:16931801 PMID:20981092 PMID:22344438 PMID:24033266 PMID:25741868
NCBI chr 1:161,069,141...161,089,158
Ensembl chr 1:161,061,165...161,089,222
G
Sohlh1
spermatogenesis and oogenesis specific basic helix-loop-helix 1
ISO
ClinVar Annotator: match by term: Spermatogenic Failure
ClinVar
PMID:20506135 PMID:28492532 PMID:28718531
NCBI chr 3:8,662,995...8,667,521
Ensembl chr 3:8,663,318...8,667,388
G
Spata16
spermatogenesis associated 16
ISO
ClinVar Annotator: match by term: Spermatogenic Failure
ClinVar
NCBI chr 2:109,485,287...109,865,665
Ensembl chr 2:109,485,274...109,865,659
G
Sycp3
synaptonemal complex protein 3
ISO
ClinVar Annotator: match by term: Spermatogenic Failure
ClinVar
NCBI chr 7:22,874,055...22,888,512
Ensembl chr 7:22,874,055...22,888,511
G
Ank2
ankyrin 2
ISO
ClinVar Annotator: match by term: Oligosynaptic infertility
ClinVar
PMID:228900 PMID:258150
NCBI chr 2:215,378,028...215,954,015
Ensembl chr 2:215,379,680...215,862,923
G
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
G
Dnah1
dynein, axonemal, heavy chain 1
ISO
ClinVar Annotator: match by term: Oligosynaptic infertility
ClinVar
PMID:25741868 PMID:28492532
NCBI chr16:6,455,514...6,517,103
Ensembl chr16:6,456,002...6,518,350
G
Nr5a1
nuclear receptor subfamily 5, group A, member 1
ISO
ClinVar Annotator: match by term: Oligosynaptic infertility
ClinVar
PMID:9536098 PMID:10369247 PMID:11038323 PMID:12907682 PMID:17576681 PMID:17694559 PMID:19246354 PMID:19269353 PMID:20887963 PMID:22028768 PMID:22474171 PMID:22549935 PMID:22907560 PMID:23154282 PMID:23543655 PMID:23729601 PMID:24591553 PMID:25122490 PMID:25383892 PMID:25741868 PMID:27169744 PMID:27378692 PMID:27490115 PMID:27610946 PMID:27899157 PMID:28032338 PMID:28033660 PMID:28326187 PMID:28492532 PMID:28938747 PMID:29027299 PMID:29935645 PMID:30425642 More...
NCBI chr 3:22,464,786...22,486,328
Ensembl chr 3:22,465,502...22,486,328
G
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
G
Sycp2
synaptonemal complex protein 2
ISO
ClinVar Annotator: match by term: Oligosynaptic infertility
OMIM ClinVar
PMID:25741868 PMID:31866047
NCBI chr 3:165,431,715...165,502,134
Ensembl chr 3:165,436,331...165,498,789
G
Tex15
testis expressed 15, meiosis and synapsis associated
ISO
ClinVar Annotator: match by term: Oligosynaptic infertility
ClinVar
PMID:26199321
NCBI chr16:58,598,991...58,659,005
Ensembl chr16:58,598,989...58,658,467
G
Septin12
septin 12
ISO
ClinVar Annotator: match by term: Spermatogenic failure 10
OMIM ClinVar
PMID:22275165 PMID:22479503
NCBI chr10:10,580,900...10,590,582
Ensembl chr10:10,581,008...10,590,581
G
Klhl10
kelch-like family member 10
ISO
ClinVar Annotator: match by term: Spermatogenic failure 11
OMIM ClinVar
PMID:17047026 PMID:25741868 PMID:28492532
NCBI chr10:85,376,442...85,392,720
Ensembl chr10:85,376,442...85,392,720
G
Nanos1
nanos C2HC-type zinc finger 1
ISO
OMIM
NCBI chr 1:259,897,659...259,901,501
Ensembl chr 1:259,897,939...259,898,730
G
Taf4b
TATA-box binding protein associated factor 4b
ISO
ClinVar Annotator: match by term: Spermatogenic failure 13
OMIM ClinVar
PMID:24431330
NCBI chr18:5,952,737...6,086,408
Ensembl chr18:5,952,769...6,068,307
G
Zmynd15
zinc finger, MYND-type containing 15
ISO
ClinVar Annotator: match by term: Spermatogenic failure 14
OMIM ClinVar
PMID:33169450
NCBI chr10:55,171,198...55,177,812
Ensembl chr10:55,171,198...55,177,812
G
Syce1
synaptonemal complex central element protein 1
ISO
ClinVar Annotator: match by term: Spermatogenic failure 15
ClinVar OMIM
PMID:25899990
NCBI chr 1:195,852,171...195,863,174
Ensembl chr 1:195,852,172...195,863,174
G
Sun5
Sad1 and UNC84 domain containing 5
ISO
ClinVar Annotator: match by term: Spermatogenic failure 16
OMIM ClinVar
PMID:27640305 PMID:28492532 PMID:29331481
NCBI chr 3:142,334,902...142,355,330
Ensembl chr 3:142,334,928...142,355,330
G
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
NCBI chr 4:172,483,752...172,851,623
Ensembl chr 4:172,484,345...172,850,544
G
Plcz1
phospholipase C, zeta 1
ISO
ClinVar Annotator: match by term: Spermatogenic failure 17
OMIM ClinVar
PMID:25741868 PMID:26721930 PMID:31463947
NCBI chr 4:172,873,110...172,929,191
Ensembl chr 4:172,873,112...172,928,358
G
Cfap251
cilia and flagella associated protein 251
ISO
ClinVar Annotator: match by term: Spermatogenic failure 18
ClinVar
PMID:30122540
NCBI chr12:33,261,622...33,337,028
Ensembl chr12:33,261,476...33,293,932
G
Dnah1
dynein, axonemal, heavy chain 1
ISO
ClinVar Annotator: match by term: Spermatogenic failure 18
OMIM ClinVar
PMID:9536098 PMID:11371505 PMID:16199547 PMID:17576681 PMID:24033266 PMID:24360805 PMID:25741868 PMID:27573432 PMID:27798045 PMID:28492532 PMID:28577616 PMID:31507630 More...
NCBI chr16:6,455,514...6,517,103
Ensembl chr16:6,456,002...6,518,350
G
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
G
Cfap43
cilia and flagella associated protein 43
ISO
ClinVar Annotator: match by term: Spermatogenic failure 19
OMIM 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
G
Cfap44
cilia and flagella associated protein 44
ISO
ClinVar Annotator: match by term: Spermatogenic failure 20
OMIM ClinVar
PMID:25741868 PMID:28552195 PMID:29277146 PMID:29449551
NCBI chr11:56,199,050...56,284,053
Ensembl chr11:56,201,049...56,283,986
G
Brdt
bromodomain testis associated
ISO
ClinVar Annotator: match by term: Spermatogenic failure 21
ClinVar OMIM
PMID:28199965
NCBI chr14:2,421,094...2,445,842
Ensembl chr14:2,387,796...2,445,842
G
Meiob
meiosis specific with OB-fold
ISO
ClinVar Annotator: match by term: Spermatogenic failure 22
ClinVar OMIM
PMID:28206990
NCBI chr10:13,833,170...13,865,684
Ensembl chr10:13,833,750...13,865,046
G
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
NCBI chr10:72,231,766...72,356,938
Ensembl chr10:72,231,801...72,355,805
G
Cfap69
cilia and flagella associated protein 69
ISO
ClinVar Annotator: match by term: Spermatogenic failure 24
OMIM 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
G
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
NCBI chr16:58,598,991...58,659,005
Ensembl chr16:58,598,989...58,658,467
G
Tsga10
testis specific 10
ISO
ClinVar Annotator: match by term: Spermatogenic failure 26
ClinVar OMIM
PMID:28905369
NCBI chr 9:39,991,822...40,098,239
Ensembl chr 9:39,991,830...40,098,232
G
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
G
Fancm
FA complementation group M
ISO
ClinVar Annotator: match by term: Spermatogenic failure 28
OMIM ClinVar
PMID:9536098 PMID:17289582 PMID:17576681 PMID:18174376 PMID:18414213 PMID:19379763 PMID:19737859 PMID:21681190 PMID:23932590 PMID:24003026 PMID:25288723 PMID:25741868 PMID:26130695 PMID:26296701 PMID:26467025 PMID:26822949 PMID:28033443 PMID:28492532 PMID:28678401 PMID:28702895 PMID:28717660 PMID:28837162 PMID:28881617 PMID:29231814 PMID:29287190 PMID:29351780 PMID:29895858 PMID:30075111 PMID:30158692 PMID:30426508 PMID:31700994 PMID:32566746 More...
NCBI chr 6:83,126,903...83,180,455
Ensembl chr 6:83,127,093...83,180,028
G
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
G
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
G
Ar
androgen receptor
ISO
ClinVar Annotator: match by term: Non-obstructive azoospermia
ClinVar
PMID:25741868 PMID:28492532
NCBI chr X:63,104,771...63,273,934
Ensembl chr X:63,104,771...63,273,925
G
Dmrt1
doublesex and mab-3 related transcription factor 1
ISO
ClinVar Annotator: match by term: Non-obstructive azoospermia
ClinVar
PMID:24934491 PMID:25741868 PMID:28492532 PMID:31479588
NCBI chr 1:223,142,859...223,241,333
Ensembl chr 1:223,142,859...223,241,333
G
Dnmt3b
DNA methyltransferase 3 beta
ISO
ClinVar Annotator: match by term: Non-obstructive azoospermia
ClinVar
PMID:10647011 PMID:11102980 PMID:11919202 PMID:15580563 PMID:25741868 PMID:31479588 More...
NCBI chr 3:142,130,592...142,169,124
Ensembl chr 3:142,130,592...142,169,124
G
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
G
Klhl10
kelch-like family member 10
ISO
ClinVar Annotator: match by term: Non-obstructive azoospermia
ClinVar
PMID:25741868 PMID:28492532 PMID:31479588
NCBI chr10:85,376,442...85,392,720
Ensembl chr10:85,376,442...85,392,720
G
M1ap
meiosis 1 associated protein
ISO
ClinVar Annotator: match by term: Non-obstructive azoospermia
ClinVar
PMID:25741868 PMID:32673564
NCBI chr 4:115,445,910...115,536,745
Ensembl chr 4:115,455,397...115,536,487
G
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
G
Mon1b
MON1 homolog B, secretory trafficking associated
ISO
ClinVar Annotator: match by term: Non-obstructive azoospermia
ClinVar
PMID:25741868 PMID:28492532 PMID:31479588
NCBI chr19:41,617,201...41,625,347
Ensembl chr19:41,617,364...41,625,347
G
Msh4
mutS homolog 4
ISO
ClinVar Annotator: match by term: Non-obstructive azoospermia
ClinVar
PMID:25741868 PMID:33448284
NCBI chr 2:242,785,392...242,844,609
Ensembl chr 2:242,792,661...242,843,487
G
Msh5
mutS homolog 5
ISO
ClinVar Annotator: match by term: Non-obstructive azoospermia
ClinVar
PMID:25741868
NCBI chr20:3,773,867...3,793,337
Ensembl chr20:3,776,942...3,793,336
G
Npas2
neuronal PAS domain protein 2
ISO
ClinVar Annotator: match by term: Non-obstructive azoospermia
ClinVar
PMID:25956372
NCBI chr 9:41,463,361...41,642,322
Ensembl chr 9:41,463,830...41,642,320
G
Nr5a1
nuclear receptor subfamily 5, group A, member 1
ISO
ClinVar Annotator: match by term: Non-obstructive azoospermia
ClinVar
PMID:18414213 PMID:25741868
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
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
G
Rec8
REC8 meiotic recombination protein
ISO
ClinVar Annotator: match by term: Non-obstructive azoospermia
ClinVar
PMID:25741868 PMID:31479588
NCBI chr15:29,109,862...29,117,327
Ensembl chr15:29,109,863...29,117,326
G
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
G
Slc26a8
solute carrier family 26 member 8
ISO
ClinVar Annotator: match by term: Spermatogenic failure 3
OMIM ClinVar
PMID:23582645
NCBI chr20:6,686,206...6,749,478
Ensembl chr20:6,697,723...6,749,478
G
Spo11
SPO11, initiator of meiotic double stranded 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
G
Srsf6
serine and arginine rich splicing factor 6
susceptibility
ISO
DNA:snp:intron:g.IVS2+305T>C (rs6103330) (human)
RGD
PMID:24661730
RGD:11039404
NCBI chr 3:151,589,546...151,594,869
Ensembl chr 3:151,589,535...151,594,860
G
Stag3
stromal antigen 3
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
G
Syce1l
synaptonemal complex central element protein 1-like
ISO
ClinVar Annotator: match by term: Non-obstructive azoospermia
ClinVar
PMID:25741868 PMID:28492532 PMID:31479588
NCBI chr19:41,625,074...41,635,541
Ensembl chr19:41,617,180...41,635,526
G
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
G
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
G
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
G
Tex11
testis expressed 11
ISO
ClinVar Annotator: match by term: Non-obstructive azoospermia
ClinVar
PMID:25970010 PMID:28132688
NCBI chr X:65,932,904...66,196,525
Ensembl chr X:65,932,988...66,196,187
G
Tex14
testis expressed 14, intercellular bridge forming factor
ISO
ClinVar Annotator: match by term: Non-obstructive azoospermia
ClinVar
PMID:25741868 PMID:28492532 PMID:31479588
NCBI chr10:72,231,766...72,356,938
Ensembl chr10:72,231,801...72,355,805
G
Tex15
testis expressed 15, meiosis and synapsis associated
ISO
ClinVar Annotator: match by term: Non-obstructive azoospermia
ClinVar
PMID:25741868 PMID:28492532 PMID:31479588
NCBI chr16:58,598,991...58,659,005
Ensembl chr16:58,598,989...58,658,467
G
Trim71
tripartite motif containing 71
ISO
ClinVar Annotator: match by term: Non-obstructive azoospermia
ClinVar
PMID:25741868
NCBI chr 8:114,193,439...114,250,807
Ensembl chr 8:114,199,187...114,250,807
G
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
G
Zswim7
zinc finger, SWIM-type containing 7
ISO
ClinVar Annotator: match by term: Non-obstructive azoospermia
ClinVar
PMID:32719396 PMID:33713115
NCBI chr10:46,953,311...46,969,800
Ensembl chr10:46,957,525...46,969,671
G
Tdrd9
tudor domain containing 9
ISO
ClinVar Annotator: match by term: Spermatogenic failure 30
OMIM ClinVar
PMID:25741868
NCBI chr 6:131,029,644...131,145,076
Ensembl chr 6:131,029,652...131,144,651
G
Cyba
cytochrome b-245 alpha chain
ISO
ClinVar Annotator: match by term: CYBA DEFICIENCY
ClinVar
PMID:3368442 PMID:9445163 PMID:10440830 PMID:19388116 PMID:25741868 PMID:28492532 PMID:30709874 More...
NCBI chr19:50,487,598...50,495,669
Ensembl chr19:50,487,597...50,495,721
G
Pmfbp1
polyamine modulated factor 1 binding protein 1
ISO
ClinVar Annotator: match by term: Spermatogenic failure 31
OMIM ClinVar
PMID:25741868 PMID:30032984 PMID:30298696
NCBI chr19:37,443,432...37,507,880
Ensembl chr19:37,458,108...37,507,879
G
Sohlh1
spermatogenesis and oogenesis specific basic helix-loop-helix 1
ISO
ClinVar Annotator: match by term: Spermatogenic failure 32
OMIM ClinVar
PMID:20506135 PMID:28492532 PMID:28718531
NCBI chr 3:8,662,995...8,667,521
Ensembl chr 3:8,663,318...8,667,388
G
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
G
Dnah1
dynein, axonemal, heavy chain 1
ISO
ClinVar Annotator: match by term: Non-syndromic male infertility due to sperm motility disorder
ClinVar
PMID:24033266
NCBI chr16:6,455,514...6,517,103
Ensembl chr16:6,456,002...6,518,350
G
Fsip2
fibrous sheath-interacting protein 2
ISO
ClinVar Annotator: match by term: Spermatogenic failure 34
OMIM ClinVar
PMID:25741868 PMID:30137358
NCBI chr 3:67,962,345...68,032,866
Ensembl chr 3:67,962,360...68,032,868
G
Qrich2
glutamine rich 2
ISO
ClinVar Annotator: match by term: Spermatogenic failure 35
OMIM ClinVar
PMID:25741868 PMID:31110204 PMID:31292949
NCBI chr10:101,669,235...101,685,281
Ensembl chr10:101,669,224...101,697,656
G
Ppp2r3c
protein phosphatase 2, regulatory subunit B'', gamma
ISO
ClinVar Annotator: match by term: Spermatogenic failure 36
OMIM ClinVar
PMID:25741868 PMID:30893644
NCBI chr 6:72,647,025...72,670,885
Ensembl chr 6:72,647,025...72,672,491
G
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
G
Ttc21a
tetratricopeptide repeat domain 21A
ISO
ClinVar Annotator: match by term: Spermatogenic failure 37
OMIM ClinVar
PMID:30929735
NCBI chr 8:119,667,044...119,702,028
Ensembl chr 8:119,666,933...119,702,456
G
Armc2
armadillo repeat containing 2
ISO
ClinVar Annotator: match by term: Spermatogenic failure 38
ClinVar OMIM
PMID:30686508
NCBI chr20:45,395,859...45,501,808
Ensembl chr20:45,394,127...45,504,819
G
Cfap91
cilia and flagella associated protein 91
ISO
ClinVar Annotator: match by term: Male infertility with teratozoospermia due to single gene mutation
ClinVar
PMID:32161152
NCBI chr11:62,413,613...62,457,281
Ensembl chr11:62,413,602...62,457,293
G
Dnah17
dynein, axonemal, heavy chain 17
ISO
ClinVar Annotator: match by term: Spermatogenic failure 39
OMIM ClinVar
PMID:25741868 PMID:31178125
NCBI chr10:103,244,144...103,364,953
Ensembl chr10:103,249,363...103,364,901
G
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
G
M1ap
meiosis 1 associated protein
ISO
ClinVar Annotator: match by term: Spermatogenesis maturation arrest
ClinVar
PMID:32017041
NCBI chr 4:115,445,910...115,536,745
Ensembl chr 4:115,455,397...115,536,487
G
Rpl10l
ribosomal protein L10-like
ISO
ClinVar Annotator: match by term: Spermatogenesis maturation arrest
ClinVar
PMID:32111475
NCBI chr 6:84,544,771...84,545,863
Ensembl chr 6:84,543,540...84,545,816
G
Sycp2
synaptonemal complex protein 2
ISO
ClinVar Annotator: match by term: Early spermatogenesis maturation arrest
ClinVar
PMID:25741868 PMID:31866047
NCBI chr 3:165,431,715...165,502,134
Ensembl chr 3:165,436,331...165,498,789
G
Sycp3
synaptonemal complex protein 3
ISO
ClinVar Annotator: match by term: Spermatogenic failure 4
OMIM ClinVar
PMID:14643120 PMID:19110213 PMID:28492532 PMID:28801929 PMID:29713536
NCBI chr 7:22,874,055...22,888,512
Ensembl chr 7:22,874,055...22,888,511
G
Cfap65
cilia and flagella associated protein 65
ISO
ClinVar Annotator: match by term: Spermatogenic failure 40
OMIM 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
G
Cfap70
cilia and flagella associated protein 70
ISO
ClinVar Annotator: match by term: Spermatogenic failure 41
ClinVar OMIM
PMID:31621862
NCBI chr15:3,852,381...3,918,036
Ensembl chr15:3,852,509...3,918,014
G
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
G
Spef2
sperm flagellar 2
ISO
ClinVar Annotator: match by term: Spermatogenic failure 43
OMIM ClinVar
PMID:24033266 PMID:25741868 PMID:31048344 PMID:31151990 PMID:31278745
NCBI chr 2:58,512,489...58,694,718
Ensembl chr 2:58,512,489...58,694,664
G
Cep112
centrosomal protein 112
ISO
ClinVar Annotator: match by term: Spermatogenic failure 44
OMIM ClinVar
PMID:31654588
NCBI chr10:93,366,059...93,833,133
Ensembl chr10:93,366,136...93,833,131
G
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
G
Dnah8
dynein, axonemal, heavy chain 8
ISO
ClinVar Annotator: match by term: Spermatogenic failure 46
OMIM ClinVar
PMID:24033266 PMID:25741868 PMID:28492532 PMID:32619401 PMID:32681648
NCBI chr20:8,692,939...8,946,780
Ensembl chr20:8,692,963...8,946,772
G
Dzip1
DAZ interacting zinc finger protein 1
ISO
ClinVar Annotator: match by term: Spermatogenic failure 47
OMIM ClinVar
PMID:32051257
NCBI chr15:95,956,329...96,009,994
Ensembl chr15:95,956,398...96,010,066
G
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
G
Cfap58
cilia and flagella associated protein 58
ISO
ClinVar Annotator: match by term: Spermatogenic failure 49
OMIM ClinVar
PMID:32791035
NCBI chr 1:246,802,681...246,911,363
Ensembl chr 1:246,802,665...246,911,374
G
Aurkc
aurora kinase C
ISO
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 ClinVar
PMID:17435757 PMID:19147683 PMID:21733974 PMID:22888167 PMID:24033266 PMID:25219909 PMID:25755131 PMID:26341096 PMID:27106102 PMID:28492532 PMID:31455599 More...
NCBI chr 1:66,843,653...66,864,348
Ensembl chr 1:66,843,653...66,864,386
G
Xrcc2
X-ray repair cross complementing 2
ISO
ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 50
OMIM ClinVar
PMID:30042186 PMID:30489636
NCBI chr 4:9,423,873...9,502,980
Ensembl chr 4:9,423,898...9,442,482
G
Cfap91
cilia and flagella associated protein 91
ISO
ClinVar Annotator: match by term: Spermatogenic failure 51
OMIM ClinVar
PMID:32161152
NCBI chr11:62,413,613...62,457,281
Ensembl chr11:62,413,602...62,457,293
G
Six6os1
Six6 opposite strand transcript 1
ISO
ClinVar Annotator: match by term: Spermatogenic failure 52
OMIM ClinVar
PMID:33508233
NCBI chr 6:91,579,185...91,615,183
Ensembl chr 6:91,579,325...91,615,148
G
Actl9
actin-like 9
ISO
ClinVar Annotator: match by term: Spermatogenic failure 53
OMIM ClinVar
PMID:33626338
NCBI chr 7:14,234,504...14,235,881
Ensembl chr 7:14,234,504...14,235,881
G
Catip
ciliogenesis associated TTC17 interacting protein
ISO
ClinVar Annotator: match by term: Spermatogenic failure 54
OMIM ClinVar
PMID:32503832
NCBI chr 9:75,945,933...75,953,618
Ensembl chr 9:75,945,961...75,953,607
G
Spag17
sperm associated antigen 17
ISO
ClinVar Annotator: match by term: Spermatogenic failure 55
ClinVar OMIM
PMID:28548327
NCBI chr 2:187,264,004...187,511,061
Ensembl chr 2:187,264,009...187,510,501
G
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
G
Pnldc1
PARN like ribonuclease domain containing exonuclease 1
ISO
ClinVar Annotator: match by term: Male infertility with azoospermia or oligozoospermia due to single gene mutation | ClinVar Annotator: match by term: Spermatogenic failure 57
OMIM ClinVar
PMID:25741868 PMID:34347949
NCBI chr 1:47,843,224...47,861,675
Ensembl chr 1:47,843,224...47,861,674
G
Ift74
intraflagellar transport 74
ISO
ClinVar Annotator: match by term: Spermatogenic failure 58
OMIM ClinVar
PMID:25741868 PMID:33689014
NCBI chr 5:109,460,372...109,563,839
Ensembl chr 5:109,474,255...109,563,833
G
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
G
Spata16
spermatogenesis associated 16
ISO
ClinVar Annotator: match by term: Globozoospermia
OMIM 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
G
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
G
Stag3
stromal antigen 3
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
G
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
G
Rpl10l
ribosomal protein L10-like
ISO
ClinVar Annotator: match by term: Spermatogenic failure 63
OMIM ClinVar
PMID:32111475
NCBI chr 6:84,544,771...84,545,863
Ensembl chr 6:84,543,540...84,545,816
G
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
G
Dnhd1
dynein heavy chain domain 1
ISO
ClinVar Annotator: match by term: Spermatogenic failure 65
OMIM ClinVar
PMID:34932939
NCBI chr 1:159,990,785...160,077,990
Ensembl chr 1:159,990,438...160,074,858
G
Zpbp
zona pellucida binding protein
ISO
ClinVar Annotator: match by term: Spermatogenic failure 66
OMIM ClinVar
PMID:31985809
NCBI chr14:85,830,971...86,030,778
Ensembl chr14:85,833,548...86,033,095
G
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
G
C2cd6
C2 calcium dependent domain containing 6
ISO
ClinVar Annotator: match by term: Spermatogenic failure 68
OMIM ClinVar
PMID:31985809
NCBI chr 9:60,434,926...60,530,843
Ensembl chr 9:60,434,925...60,530,806
G
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
G
Catsper1
cation channel, sperm associated 1
ISO
ClinVar Annotator: match by term: Spermatogenic failure 7
OMIM ClinVar
PMID:19344877 PMID:20301780 PMID:21255775 PMID:24442342 PMID:25741868 PMID:28492532 More...
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
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 3:108,368,654...108,389,380
Ensembl chr 3:108,368,668...108,388,050
G
Strc
stereocilin
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 7
CTD ClinVar
PMID:24033266 PMID:25741868
NCBI chr 3:108,335,920...108,355,114
Ensembl chr 3:108,335,747...108,354,134
G
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
G
Zswim7
zinc finger, SWIM-type containing 7
ISO
ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 71
OMIM ClinVar
PMID:32719396 PMID:33713115
NCBI chr10:46,953,311...46,969,800
Ensembl chr10:46,957,525...46,969,671
G
Nr5a1
nuclear receptor subfamily 5, group A, member 1
ISO
ClinVar Annotator: match by term: Spermatogenic failure 8
OMIM ClinVar
PMID:20887963
NCBI chr 3:22,464,786...22,486,328
Ensembl chr 3:22,465,502...22,486,328
G
Dpy19l2
dpy-19 like 2
ISO
ClinVar Annotator: match by term: Spermatogenic failure 9
OMIM ClinVar
PMID:15533374 PMID:21397063 PMID:21397064 PMID:22627659 PMID:22653751 PMID:28492532 PMID:33108537 More...
NCBI chr 8:23,062,592...23,181,817
Ensembl chr 8:23,063,115...23,181,798
G
Nectin2
nectin cell adhesion molecule 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28689229
NCBI chr 1:79,372,123...79,407,379
Ensembl chr 1:79,372,119...79,407,360
G
Nectin3
nectin cell adhesion molecule 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28689229
NCBI chr11:54,362,712...54,461,316
Ensembl chr11:54,364,487...54,462,519
G
Nos3
nitric oxide synthase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29983398
NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
G
Ythdc2
YTH domain containing 2
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:34822792
NCBI chr18:37,266,559...37,331,681
Ensembl chr18:37,265,836...37,331,023
G
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
G
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
G
Mns1
meiosis-specific nuclear structural 1
ISO
ClinVar Annotator: match by term: Heterotaxy, visceral, 9, autosomal, with male infertility
OMIM ClinVar
PMID:28492532 PMID:30148830 PMID:31534215
NCBI chr 8:73,148,877...73,169,570
Ensembl chr 8:73,148,877...73,176,925
G
Tex9
testis expressed 9
ISO
ClinVar Annotator: match by term: Heterotaxy, visceral, 9, autosomal, with male infertility
ClinVar
PMID:28492532 PMID:30148830 PMID:31534215
NCBI chr 8:73,168,519...73,213,935
Ensembl chr 8:73,177,810...73,214,261
G
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
G
Tex11
testis expressed 11
ISO
ClinVar Annotator: match by term: Spermatogenic failure, X-linked, 2
OMIM ClinVar
PMID:25970010 PMID:28492532
NCBI chr X:65,932,904...66,196,525
Ensembl chr X:65,932,988...66,196,187
G
Cfap47
cilia and flagella associated protein 47
ISO
ClinVar Annotator: match by term: Spermatogenic failure, X-linked, 3
ClinVar OMIM
PMID:33472045
NCBI chr X:43,264,687...43,616,607
Ensembl chr X:43,263,490...43,616,852
G
Ddx3
DEAD (Asp-Glu-Ala-Asp) box polypeptide 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr Y:1,115,095...1,135,754
Ensembl chr Y:1,116,309...1,135,706
G
Kdm5d
lysine demethylase 5D
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr Y:527,069...624,019
Ensembl chr Y:530,401...624,018
G
Rps4y2
ribosomal protein S4, Y-linked 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 4:181,269,507...181,270,440
Ensembl chr 4:181,269,081...181,270,349
G
Usp9y
ubiquitin specific peptidase 9, Y-linked
ISO
ClinVar Annotator: match by term: Hypospermatogenesis, nonobstructive, Y-linked | ClinVar Annotator: match by term: Spermatogenic failure, Y-linked, 2
OMIM ClinVar
PMID:9384609 PMID:10402373 PMID:10507722 PMID:10581029 PMID:10767340 PMID:19246359 More...
NCBI chr Y:1,156,135...1,300,965
Ensembl chr Y:1,156,135...1,300,943
G
Pgk1
phosphoglycerate kinase 1
ISO
ClinVar Annotator: match by term: Male infertility due to obstructive azoospermia
ClinVar
NCBI chr X:71,271,454...71,287,429
Ensembl chr X:71,271,440...71,287,418
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all
Path 1
disease
18030
disease of anatomical entity
17410
reproductive system disease
2840
male reproductive system disease
1908
male infertility
239
Aspermia
0
Asthenozoospermia +
10
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
0
Male Sterility due to Y-Chromosome Deletions
0
Sensorineural Deafness and Male Infertility
5
Sertoli cell-only syndrome +
3
Teratozoospermia +
10
Visceral Heterotaxy 10, Autosomal
1
Visceral Heterotaxy 11, Autosomal
1
Visceral Heterotaxy 9, Autosomal
2
aromatase excess syndrome
2
azoospermia +
71
infertility due to extratesticular cause
0
oligospermia +
26
spermatogenic failure +
103
Path 2
disease
18030
disease of anatomical entity
17410
Urogenital Diseases
4682
Female Urogenital Diseases and Pregnancy Complications
2212
Female Urogenital Diseases
1835
female reproductive system disease
1831
infertility
322
male infertility
239
Aspermia
0
Asthenozoospermia +
10
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
0
Male Sterility due to Y-Chromosome Deletions
0
Sensorineural Deafness and Male Infertility
5
Sertoli cell-only syndrome +
3
Teratozoospermia +
10
Visceral Heterotaxy 10, Autosomal
1
Visceral Heterotaxy 11, Autosomal
1
Visceral Heterotaxy 9, Autosomal
2
aromatase excess syndrome
2
azoospermia +
71
infertility due to extratesticular cause
0
oligospermia +
26
spermatogenic failure +
103