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HUMAN PHENOTYPE - ANNOTATIONS

The Human Phenotype Ontology (HPO) is downloaded weekly from http://compbio.charite.de/hudson/job/hpo/lastStableBuild/artifact/ontology/release/hp.obo. The file downloaded is considered the "last stable build" available for the ontology. For more about the HPO, view their website at http://www.human-phenotype-ontology.org/.
Term:Azoospermia
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Accession:HP:0000027 term browser browse the term
Definition:Absence of any measurable level of sperm,whereby spermatozoa cannot be observed even after centrifugation of the semen pellet.
Synonyms:exact_synonym: Absent sperm in semen
 xref: EFO:0000279;   MESH:D053713;   SNOMEDCT_US:425558002;   SNOMEDCT_US:48188009;   UMLS:C0004509


show annotations for term's descendants           Sort by:
Azoospermia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADGRG2 adhesion G protein-coupled receptor G2 IAGP HPO OMIM:300985 NCBI chr  X:18,989,307...19,122,956
Ensembl chr  X:18,989,307...19,122,637 		JBrowse link
G ANK1 ankyrin 1 IAGP HPO ORPHA:251066 NCBI chr 8:41,653,225...41,896,741
Ensembl chr 8:41,653,220...41,896,741 		JBrowse link
G ANOS1 anosmin 1 IAGP HPO OMIM:308700 NCBI chr  X:8,528,874...8,732,137
Ensembl chr  X:8,528,874...8,732,137 		JBrowse link
G AR androgen receptor IAGP HPO OMIM:312300 ORPHA:90797 NCBI chr  X:67,544,021...67,730,619
Ensembl chr  X:67,544,021...67,730,619 		JBrowse link
G BCL10 BCL10 immune signaling adaptor IAGP HPO OMIM:273300 NCBI chr 1:85,265,776...85,276,632
Ensembl chr 1:85,265,776...85,276,632 		JBrowse link
G BLM BLM RecQ like helicase IAGP HPO OMIM:210900 ORPHA:125 NCBI chr15:90,717,346...90,816,166
Ensembl chr15:90,717,346...90,816,166 		JBrowse link
G BMP2 bone morphogenetic protein 2 IAGP HPO OMIM:235200 NCBI chr20:6,767,686...6,780,246
Ensembl chr20:6,767,686...6,780,246 		JBrowse link
G BPY2 basic charge Y-linked 2 IAGP HPO OMIM:415000 NCBI chr  Y:22,984,263...23,005,465
Ensembl chr  Y:22,973,819...23,005,465 		JBrowse link
G BRCA1 BRCA1 DNA repair associated IAGP HPO ORPHA:84 NCBI chr17:43,044,295...43,170,327
Ensembl chr17:43,044,295...43,170,245 		JBrowse link
G BRCA2 BRCA2 DNA repair associated IAGP HPO ORPHA:84 NCBI chr13:32,315,508...32,400,268
Ensembl chr13:32,315,086...32,400,268 		JBrowse link
G BRCC3 BRCA1/BRCA2-containing complex subunit 3 IAGP HPO ORPHA:280679 NCBI chr  X:155,071,508...155,123,077
Ensembl chr  X:155,071,420...155,123,077 		JBrowse link
G BRIP1 BRCA1 interacting helicase 1 IAGP HPO ORPHA:84 NCBI chr17:61,679,139...61,863,528
Ensembl chr17:61,679,139...61,863,559 		JBrowse link
G C14orf39 chromosome 14 open reading frame 39 IAGP ClinVar Annotator: match by term: Azoospermia ClinVar
HPO		 PMID:33508233 OMIM:619202 NCBI chr14:60,435,956...60,515,544
Ensembl chr14:60,396,469...60,515,543 		JBrowse link
G CATIP ciliogenesis associated TTC17 interacting protein IAGP HPO ORPHA:399805 NCBI chr 2:218,356,857...218,368,094
Ensembl chr 2:218,356,857...218,368,099 		JBrowse link
G CATSPER2 cation channel sperm associated 2 IAGP HPO ORPHA:94064 NCBI chr15:43,628,503...43,648,884
Ensembl chr15:43,628,503...43,668,118 		JBrowse link
G CCDC34 coiled-coil domain containing 34 IAGP HPO ORPHA:399805 NCBI chr11:27,338,512...27,363,215
Ensembl chr11:27,330,827...27,363,234 		JBrowse link
G CDY1 chromodomain Y-linked 1 IAGP HPO OMIM:415000 NCBI chr  Y:25,622,115...25,625,511
Ensembl chr  Y:25,622,117...25,624,902 		JBrowse link
G CDY2A chromodomain Y-linked 2A IAGP HPO OMIM:415000 NCBI chr  Y:18,025,787...18,027,746
Ensembl chr  Y:18,025,787...18,027,746 		JBrowse link
G CEP19 centrosomal protein 19 IAGP HPO OMIM:615703 NCBI chr 3:196,706,277...196,712,250
Ensembl chr 3:196,706,277...196,712,250 		JBrowse link
G CFTR CF transmembrane conductance regulator IAGP DNA:deletion, nonsense mutations, missense mutations:multiple HPO
RGD		 PMID:11119745 OMIM:277180 ORPHA:399805, RGD:11566027 NCBI chr 7:117,480,025...117,668,665
Ensembl chr 7:117,287,120...117,715,971 		JBrowse link
G CHD7 chromodomain helicase DNA binding protein 7 IAGP HPO ORPHA:432 NCBI chr 8:60,678,740...60,868,028
Ensembl chr 8:60,678,740...60,868,028 		JBrowse link
G CT55 cancer/testis antigen 55 IAGP HPO ORPHA:399805 NCBI chr  X:135,156,536...135,171,827
Ensembl chr  X:135,156,540...135,171,398 		JBrowse link
G DAZ1 deleted in azoospermia 1 IAGP HPO OMIM:415000 NCBI chr  Y:23,129,355...23,199,094
Ensembl chr  Y:23,129,355...23,199,010 		JBrowse link
G DAZ2 deleted in azoospermia 2 IAGP HPO OMIM:415000 NCBI chr  Y:23,219,457...23,291,356
Ensembl chr  Y:23,219,447...23,291,356 		JBrowse link
G DAZ3 deleted in azoospermia 3 IAGP HPO OMIM:415000 NCBI chr  Y:24,763,069...24,813,393
Ensembl chr  Y:24,763,069...24,813,492 		JBrowse link
G DDX25 DEAD-box helicase 25 IAGP ClinVar Annotator: match by term: Azoospermia ClinVar NCBI chr11:125,903,328...125,928,843
Ensembl chr11:125,903,348...125,943,702 		JBrowse link
G DDX3Y DEAD-box helicase 3 Y-linked IAGP HPO OMIM:415000 NCBI chr  Y:12,903,999...12,920,478
Ensembl chr  Y:12,904,108...12,920,478 		JBrowse link
G DHX37 DEAH-box helicase 37 IAGP HPO ORPHA:251510 NCBI chr12:124,946,826...124,989,131
Ensembl chr12:124,946,825...124,989,131 		JBrowse link
G DMC1 DNA meiotic recombinase 1 IAGP ClinVar Annotator: match by term: Azoospermia ClinVar NCBI chr22:38,509,147...38,570,183
Ensembl chr22:38,518,948...38,570,204 		JBrowse link
G DMRT3 doublesex and mab-3 related transcription factor 3 IAGP HPO ORPHA:251510 NCBI chr 9:976,655...991,732
Ensembl chr 9:976,655...991,732 		JBrowse link
G DNAH10 dynein axonemal heavy chain 10 IAGP HPO ORPHA:399805 NCBI chr12:123,762,301...123,935,720
Ensembl chr12:123,762,188...123,935,720 		JBrowse link
G DNAH9 dynein axonemal heavy chain 9 IAGP HPO OMIM:618300 NCBI chr17:11,598,470...11,969,748
Ensembl chr17:11,598,470...11,969,748 		JBrowse link
G DNHD1 dynein heavy chain domain 1 IAGP HPO ORPHA:399805 NCBI chr11:6,497,280...6,572,020
Ensembl chr11:6,497,260...6,593,758 		JBrowse link
G DUSP6 dual specificity phosphatase 6 IAGP HPO ORPHA:432 NCBI chr12:89,347,235...89,352,501
Ensembl chr12:89,347,235...89,352,501 		JBrowse link
G ERCC4 ERCC excision repair 4, endonuclease catalytic subunit IAGP HPO ORPHA:84 NCBI chr16:13,920,154...13,952,348
Ensembl chr16:13,920,138...13,952,348 		JBrowse link
G FAHD1 fumarylacetoacetate hydrolase domain containing 1 IAGP ClinVar Annotator: match by term: Azoospermia ClinVar NCBI chr16:1,827,206...1,840,207
Ensembl chr16:1,826,967...1,840,207 		JBrowse link
G FANCA FA complementation group A IAGP HPO ORPHA:84 NCBI chr16:89,737,549...89,816,647
Ensembl chr16:89,726,683...89,816,977 		JBrowse link
G FANCB FA complementation group B IAGP HPO ORPHA:84 NCBI chr  X:14,689,524...14,873,069
Ensembl chr  X:14,690,388...14,873,255 		JBrowse link
G FANCC FA complementation group C IAGP HPO ORPHA:84 NCBI chr 9:95,099,054...95,317,709
Ensembl chr 9:95,099,054...95,426,796 		JBrowse link
G FANCD2 FA complementation group D2 IAGP HPO ORPHA:84 NCBI chr 3:10,026,437...10,101,932
Ensembl chr 3:10,026,370...10,101,932 		JBrowse link
G FANCE FA complementation group E IAGP HPO ORPHA:84 NCBI chr 6:35,452,338...35,467,102
Ensembl chr 6:35,452,338...35,467,104 		JBrowse link
G FANCF FA complementation group F IAGP HPO ORPHA:84 NCBI chr11:22,622,533...22,625,823
Ensembl chr11:22,622,533...22,625,823 		JBrowse link
G FANCG FA complementation group G IAGP HPO ORPHA:84 NCBI chr 9:35,073,839...35,079,942
Ensembl chr 9:35,073,835...35,080,004 		JBrowse link
G FANCI FA complementation group I IAGP HPO ORPHA:84 NCBI chr15:89,243,979...89,317,259
Ensembl chr15:89,243,945...89,317,261 		JBrowse link
G FANCL FA complementation group L IAGP HPO ORPHA:84 NCBI chr 2:58,159,243...58,241,380
Ensembl chr 2:58,159,243...58,241,410 		JBrowse link
G FANCM FA complementation group M IAGP ClinVar Annotator: match by term: Azoospermia HPO
ClinVar		 PMID:17289582 PMID:18174376 PMID:19379763 PMID:23409019 PMID:23932590 More... ORPHA:399805 ORPHA:84 NCBI chr14:45,135,930...45,200,890
Ensembl chr14:45,135,930...45,200,890 		JBrowse link
G FBXO43 F-box protein 43 IAGP HPO ORPHA:399805 NCBI chr 8:100,133,351...100,150,569
Ensembl chr 8:100,133,351...100,145,817 		JBrowse link
G FGF17 fibroblast growth factor 17 IAGP HPO ORPHA:432 NCBI chr 8:22,039,672...22,048,809
Ensembl chr 8:22,042,398...22,048,809 		JBrowse link
G FGF8 fibroblast growth factor 8 IAGP HPO ORPHA:432 NCBI chr10:101,770,109...101,780,369
Ensembl chr10:101,770,109...101,780,371 		JBrowse link
G FGFR1 fibroblast growth factor receptor 1 IAGP HPO ORPHA:432 NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834 		JBrowse link
G FGFR3 fibroblast growth factor receptor 3 IAGP HPO OMIM:273300 NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872 		JBrowse link
G FKBP6 FKBP prolyl isomerase family member 6 (inactive) IAGP HPO OMIM:620103 NCBI chr 7:73,328,161...73,358,625
Ensembl chr 7:73,328,161...73,358,637 		JBrowse link
G FSHB follicle stimulating hormone subunit beta IAGP HPO OMIM:229070 ORPHA:52901 NCBI chr11:30,231,014...30,235,194
Ensembl chr11:30,231,014...30,235,261 		JBrowse link
G GATA4 GATA binding protein 4 IAGP HPO ORPHA:251510 NCBI chr 8:11,676,935...11,760,002
Ensembl chr 8:11,676,959...11,760,002 		JBrowse link
G GBA1 glucosylceramidase beta 1 IAGP HPO ORPHA:2072 NCBI chr 1:155,234,452...155,244,627
Ensembl chr 1:155,234,452...155,244,699 		JBrowse link
G GCNA germ cell nuclear acidic peptidase IAGP ClinVar Annotator: match by term: Azoospermia ClinVar
HPO		 PMID:35172124 OMIM:301077 NCBI chr  X:71,578,437...71,613,583
Ensembl chr  X:71,578,437...71,613,583 		JBrowse link
G GNRH1 gonadotropin releasing hormone 1 IAGP HPO ORPHA:432 NCBI chr 8:25,419,258...25,425,040
Ensembl chr 8:25,419,258...25,424,654 		JBrowse link
G GNRHR gonadotropin releasing hormone receptor IAGP HPO ORPHA:432 NCBI chr 4:67,737,118...67,754,388
Ensembl chr 4:67,737,118...67,754,388 		JBrowse link
G HENMT1 HEN methyltransferase 1 IAGP ClinVar Annotator: match by term: Azoospermia ClinVar NCBI chr 1:108,648,295...108,661,474
Ensembl chr 1:108,648,290...108,661,526 		JBrowse link
G HFE homeostatic iron regulator IAGP HPO OMIM:235200 NCBI chr 6:26,087,429...26,098,343
Ensembl chr 6:26,087,226...26,098,343 		JBrowse link
G HFM1 helicase for meiosis 1 IAGP ClinVar Annotator: match by term: Azoospermia ClinVar NCBI chr 1:91,260,766...91,408,007
Ensembl chr 1:91,260,766...91,404,856 		JBrowse link
G HJV hemojuvelin BMP co-receptor IAGP HPO OMIM:602390 NCBI chr 1:146,017,470...146,021,735
Ensembl chr 1:146,017,468...146,036,746 		JBrowse link
G HNF1B HNF1 homeobox B IAGP HPO ORPHA:2578 NCBI chr17:37,686,431...37,745,059
Ensembl chr17:37,686,431...37,745,059 		JBrowse link
G HS6ST1 heparan sulfate 6-O-sulfotransferase 1 IAGP HPO ORPHA:432 NCBI chr 2:128,265,480...128,318,868
Ensembl chr 2:128,236,716...128,318,868 		JBrowse link
G HSD3B2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 IAGP HPO ORPHA:90791 NCBI chr 1:119,414,931...119,423,034
Ensembl chr 1:119,414,931...119,423,035 		JBrowse link
G HSFY1 heat shock transcription factor Y-linked 1 IAGP HPO OMIM:415000 NCBI chr  Y:18,529,643...18,588,963
Ensembl chr  Y:18,546,691...18,588,963 		JBrowse link
G KASH5 KASH domain containing 5 IAGP ClinVar Annotator: match by term: Azoospermia ClinVar NCBI chr19:49,388,249...49,417,990
Ensembl chr19:49,388,219...49,417,990 		JBrowse link
G KDM5D lysine demethylase 5D IAGP HPO OMIM:415000 NCBI chr  Y:19,703,865...19,744,726
Ensembl chr  Y:19,703,865...19,744,939 		JBrowse link
G KISS1 KiSS-1 metastasis suppressor IAGP HPO ORPHA:432 NCBI chr 1:204,190,341...204,196,491
Ensembl chr 1:204,190,341...204,196,491 		JBrowse link
G KISS1R KISS1 receptor IAGP HPO OMIM:614837 ORPHA:432 NCBI chr19:917,333...921,005
Ensembl chr19:917,287...921,005 		JBrowse link
G KIT KIT proto-oncogene, receptor tyrosine kinase IAGP HPO OMIM:273300 NCBI chr 4:54,657,957...54,740,715
Ensembl chr 4:54,657,267...54,740,783 		JBrowse link
G KLHL10 kelch like family member 10 IAGP HPO ORPHA:399805 NCBI chr17:41,835,685...41,848,384
Ensembl chr17:41,835,685...41,848,384 		JBrowse link
G LHB luteinizing hormone subunit beta IAGP HPO OMIM:228300 NCBI chr19:49,015,980...49,019,498
Ensembl chr19:49,015,980...49,017,091 		JBrowse link
G M1AP meiosis 1 associated protein IAGP HPO OMIM:619108 NCBI chr 2:74,557,883...74,648,330
Ensembl chr 2:74,557,883...74,648,338 		JBrowse link
G MAD2L2 mitotic arrest deficient 2 like 2 IAGP HPO ORPHA:84 NCBI chr 1:11,674,480...11,691,830
Ensembl chr 1:11,658,918...11,691,811 		JBrowse link
G MAP3K1 mitogen-activated protein kinase kinase kinase 1 IAGP HPO ORPHA:251510 NCBI chr 5:56,815,549...56,896,152
Ensembl chr 5:56,815,549...56,896,152 		JBrowse link
G MC2R melanocortin 2 receptor IAGP HPO ORPHA:361 NCBI chr18:13,882,044...13,915,707
Ensembl chr18:13,882,044...13,915,707 		JBrowse link
G MCM8 minichromosome maintenance 8 homologous recombination repair factor IAGP ClinVar Annotator: match by term: Azoospermia ClinVar
HPO		 OMIM:612885 NCBI chr20:5,950,652...5,998,977
Ensembl chr20:5,950,652...5,998,977 		JBrowse link
G MCMDC2 minichromosome maintenance domain containing 2 IAGP ClinVar Annotator: match by term: Azoospermia ClinVar NCBI chr 8:66,870,771...66,926,382
Ensembl chr 8:66,870,749...66,922,048 		JBrowse link
G MEIOB meiosis specific with OB-fold IAGP ClinVar Annotator: match by term: Azoospermia ClinVar
HPO		 ORPHA:399805 NCBI chr16:1,833,986...1,872,164
Ensembl chr16:1,833,986...1,884,294 		JBrowse link
G MOV10L1 Mov10 like RNA helicase 1 IAGP ClinVar Annotator: match by term: Azoospermia ClinVar
HPO		 ORPHA:399805 NCBI chr22:50,090,006...50,161,687
Ensembl chr22:50,090,006...50,161,690 		JBrowse link
G MRAP melanocortin 2 receptor accessory protein IAGP HPO ORPHA:361 NCBI chr21:32,291,813...32,314,784
Ensembl chr21:32,291,813...32,314,784 		JBrowse link
G MSH4 mutS homolog 4 IAGP HPO OMIM:108420 NCBI chr 1:75,796,882...75,913,242
Ensembl chr 1:75,796,882...75,913,242 		JBrowse link
G MSH5 mutS homolog 5 IAGP ClinVar Annotator: match by term: Azoospermia ClinVar
HPO		 ORPHA:399805 NCBI chr 6:31,740,005...31,762,676
Ensembl chr 6:31,739,677...31,762,676 		JBrowse link
G MSH5-SAPCD1 MSH5-SAPCD1 readthrough (NMD candidate) IAGP ClinVar Annotator: match by term: Azoospermia ClinVar NCBI chr 6:31,739,948...31,764,850
Ensembl chr 6:31,740,020...31,764,851 		JBrowse link
G NANOS1 nanos C2HC-type zinc finger 1 IAGP HPO OMIM:615413 ORPHA:399805 NCBI chr10:119,029,714...119,033,730
Ensembl chr10:119,029,714...119,033,730 		JBrowse link
G NHLH2 nescient helix-loop-helix 2 IAGP HPO ORPHA:432 NCBI chr 1:115,831,344...115,841,126
Ensembl chr 1:115,836,377...115,843,917 		JBrowse link
G NNT nicotinamide nucleotide transhydrogenase IAGP HPO ORPHA:361 NCBI chr 5:43,602,675...43,707,396
Ensembl chr 5:43,602,692...43,707,405 		JBrowse link
G NR0B1 nuclear receptor subfamily 0 group B member 1 IAGP HPO OMIM:300200 ORPHA:251510 NCBI chr  X:30,304,206...30,309,390
Ensembl chr  X:30,304,206...30,309,390 		JBrowse link
G NR5A1 nuclear receptor subfamily 5 group A member 1 IAGP HPO OMIM:613957 ORPHA:251510 ORPHA:399805 NCBI chr 9:124,481,236...124,507,399
Ensembl chr 9:124,481,236...124,507,420 		JBrowse link
G NSMF NMDA receptor synaptonuclear signaling and neuronal migration factor IAGP HPO ORPHA:432 NCBI chr 9:137,447,570...137,459,334
Ensembl chr 9:137,447,570...137,459,334 		JBrowse link
G OCRL OCRL inositol polyphosphate-5-phosphatase IAGP HPO ORPHA:534 NCBI chr  X:129,540,259...129,592,556
Ensembl chr  X:129,539,849...129,592,561 		JBrowse link
G PALB2 partner and localizer of BRCA2 IAGP HPO ORPHA:84 NCBI chr16:23,603,165...23,641,310
Ensembl chr16:23,603,160...23,641,321 		JBrowse link
G PDHA2 pyruvate dehydrogenase E1 subunit alpha 2 IAGP ClinVar Annotator: match by term: Azoospermia ClinVar
HPO		 PMID:29581481 PMID:35172124 OMIM:619828 ORPHA:399805 NCBI chr 4:95,840,093...95,841,464
Ensembl chr 4:95,840,093...95,841,464 		JBrowse link
G PNLDC1 PARN like ribonuclease domain containing exonuclease 1 IAGP HPO ORPHA:399805 NCBI chr 6:159,799,455...159,820,704
Ensembl chr 6:159,800,249...159,820,704 		JBrowse link
G PROK2 prokineticin 2 IAGP HPO ORPHA:432 NCBI chr 3:71,771,655...71,785,148
Ensembl chr 3:71,771,655...71,785,206 		JBrowse link
G PROKR2 prokineticin receptor 2 IAGP HPO ORPHA:432 NCBI chr20:5,299,218...5,316,954
Ensembl chr20:5,299,218...5,316,954 		JBrowse link
G PRY PTPN13 like Y-linked IAGP HPO OMIM:415000 NCBI chr  Y:22,490,397...22,514,637
Ensembl chr  Y:22,490,397...22,514,637 		JBrowse link
G PRY2 PTPN13 like Y-linked 2 IAGP HPO OMIM:415000 NCBI chr  Y:22,071,756...22,096,007
Ensembl chr  Y:22,071,756...22,096,007 		JBrowse link
G RAD51 RAD51 recombinase IAGP HPO ORPHA:84 NCBI chr15:40,694,733...40,732,340
Ensembl chr15:40,694,774...40,732,340 		JBrowse link
G RAD51C RAD51 paralog C IAGP HPO ORPHA:84 NCBI chr17:58,692,573...58,735,611
Ensembl chr17:58,692,573...58,735,611 		JBrowse link
G RBMY1A1 RNA binding motif protein Y-linked family 1 member A1 IAGP HPO OMIM:415000 NCBI chr  Y:21,534,879...21,559,683
Ensembl chr  Y:21,534,879...21,549,326 		JBrowse link
G REC8 REC8 meiotic recombination protein IAGP ClinVar Annotator: match by term: Azoospermia ClinVar NCBI chr14:24,172,080...24,180,923
Ensembl chr14:24,171,853...24,180,257 		JBrowse link
G RFWD3 ring finger and WD repeat domain 3 IAGP HPO ORPHA:84 NCBI chr16:74,621,399...74,666,877
Ensembl chr16:74,621,399...74,666,877 		JBrowse link
G RNF212 ring finger protein 212 IAGP HPO ORPHA:399805 NCBI chr 4:1,056,251...1,113,710
Ensembl chr 4:1,056,250...1,113,564 		JBrowse link
G RPL10L ribosomal protein L10 like IAGP HPO ORPHA:399805 NCBI chr14:46,651,010...46,651,781
Ensembl chr14:46,651,010...46,651,781 		JBrowse link
G RPS4Y2 ribosomal protein S4 Y-linked 2 IAGP HPO OMIM:415000 NCBI chr  Y:20,756,108...20,781,032
Ensembl chr  Y:20,756,108...20,781,032 		JBrowse link
G SCP2 sterol carrier protein 2 IAGP HPO OMIM:613724 NCBI chr 1:52,927,276...53,051,698
Ensembl chr 1:52,927,276...53,051,698 		JBrowse link
G SEMA3A semaphorin 3A IAGP HPO OMIM:614897 NCBI chr 7:83,955,777...84,492,725
Ensembl chr 7:83,955,777...84,492,724 		JBrowse link
G SHOC1 shortage in chiasmata 1 IAGP HPO ORPHA:399805 NCBI chr 9:111,686,171...111,794,937
Ensembl chr 9:111,686,171...111,795,008 		JBrowse link
G SLC29A3 solute carrier family 29 member 3 IAGP HPO OMIM:602782 ORPHA:168569 NCBI chr10:71,319,259...71,381,423
Ensembl chr10:71,319,259...71,381,423 		JBrowse link
G SLX4 SLX4 structure-specific endonuclease subunit IAGP HPO ORPHA:84 NCBI chr16:3,581,181...3,611,606
Ensembl chr16:3,581,181...3,611,606 		JBrowse link
G SOHLH1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 IAGP HPO ORPHA:399805 NCBI chr 9:135,693,407...135,702,112
Ensembl chr 9:135,693,407...135,704,498 		JBrowse link
G SOX9 SRY-box transcription factor 9 IAGP HPO ORPHA:251510 NCBI chr17:72,121,020...72,126,416
Ensembl chr17:72,121,020...72,126,416 		JBrowse link
G SPAG17 sperm associated antigen 17 IAGP HPO ORPHA:399805 NCBI chr 1:117,953,590...118,185,228
Ensembl chr 1:117,953,590...118,185,228 		JBrowse link
G SPRY4 sprouty RTK signaling antagonist 4 IAGP HPO ORPHA:432 NCBI chr 5:142,310,430...142,325,021
Ensembl chr 5:142,310,427...142,326,455 		JBrowse link
G SRY sex determining region Y IAGP HPO OMIM:400045 ORPHA:1772 ORPHA:251510 NCBI chr  Y:2,786,855...2,787,682
Ensembl chr  Y:2,786,855...2,787,682 		JBrowse link
G STAG3 STAG3 cohesin complex component IAGP HPO ORPHA:399805 NCBI chr 7:100,177,724...100,219,334
Ensembl chr 7:100,177,563...100,214,387 		JBrowse link
G STAR steroidogenic acute regulatory protein IAGP HPO ORPHA:361 NCBI chr 8:38,142,700...38,150,952
Ensembl chr 8:38,142,700...38,150,992 		JBrowse link
G STEAP3 STEAP3 metalloreductase IAGP HPO OMIM:615234 ORPHA:300298 NCBI chr 2:119,223,834...119,265,652
Ensembl chr 2:119,223,831...119,265,652 		JBrowse link
G STK11 serine/threonine kinase 11 IAGP HPO OMIM:273300 NCBI chr19:1,205,778...1,228,431
Ensembl chr19:1,177,558...1,228,431 		JBrowse link
G STRC stereocilin IAGP HPO ORPHA:94064 NCBI chr15:43,599,563...43,618,800
Ensembl chr15:43,599,563...43,618,800 		JBrowse link
G SYCE1 synaptonemal complex central element protein 1 IAGP HPO ORPHA:399805 NCBI chr10:133,553,899...133,568,291
Ensembl chr10:133,553,901...133,569,835 		JBrowse link
G SYCP3 synaptonemal complex protein 3 IAGP HPO OMIM:270960 ORPHA:399805 NCBI chr12:101,728,648...101,739,462
Ensembl chr12:101,728,648...101,739,472 		JBrowse link
G TAC3 tachykinin precursor 3 IAGP HPO ORPHA:432 NCBI chr12:57,010,000...57,016,529
Ensembl chr12:57,010,000...57,028,883 		JBrowse link
G TACR3 tachykinin receptor 3 IAGP HPO ORPHA:432 NCBI chr 4:103,586,031...103,719,985
Ensembl chr 4:103,586,031...103,719,985 		JBrowse link
G TAF4B TATA-box binding protein associated factor 4b IAGP HPO OMIM:615841 ORPHA:399805 NCBI chr18:26,226,445...26,391,685
Ensembl chr18:26,226,445...26,391,685 		JBrowse link
G TDRD9 tudor domain containing 9 IAGP ClinVar Annotator: match by term: Azoospermia ClinVar
HPO		 OMIM:618110 ORPHA:399805 NCBI chr14:103,928,456...104,052,667
Ensembl chr14:103,928,456...104,052,667 		JBrowse link
G TDRKH tudor and KH domain containing IAGP ClinVar Annotator: match by term: Azoospermia ClinVar NCBI chr 1:151,766,486...151,790,534
Ensembl chr 1:151,770,107...151,791,416 		JBrowse link
G TERB1 telomere repeat binding bouquet formation protein 1 IAGP ClinVar Annotator: match by term: Azoospermia ClinVar
HPO		 ORPHA:399805 NCBI chr16:66,754,640...66,802,025
Ensembl chr16:66,754,640...66,801,620 		JBrowse link
G TERB2 telomere repeat binding bouquet formation protein 2 IAGP HPO ORPHA:399805 NCBI chr15:44,956,687...44,979,229
Ensembl chr15:44,956,687...44,979,229 		JBrowse link
G TEX11 testis expressed 11 IAGP HPO OMIM:309120 ORPHA:399805 NCBI chr  X:70,511,227...70,908,711
Ensembl chr  X:70,528,940...70,908,711 		JBrowse link
G TEX14 testis expressed 14, intercellular bridge forming factor IAGP HPO OMIM:617707 ORPHA:399805 NCBI chr17:58,556,678...58,692,045
Ensembl chr17:58,556,678...58,692,055 		JBrowse link
G TEX15 testis expressed 15, meiosis and synapsis associated IAGP HPO ORPHA:399805 NCBI chr 8:30,831,544...30,913,008
Ensembl chr 8:30,831,544...30,913,008 		JBrowse link
G TXNRD2 thioredoxin reductase 2 IAGP HPO ORPHA:361 NCBI chr22:19,875,522...19,941,818
Ensembl chr22:19,875,517...19,941,820 		JBrowse link
G UBE2T ubiquitin conjugating enzyme E2 T IAGP HPO ORPHA:84 NCBI chr 1:202,331,657...202,341,936
Ensembl chr 1:202,331,544...202,341,984 		JBrowse link
G USP9Y ubiquitin specific peptidase 9 Y-linked IAGP HPO OMIM:415000 NCBI chr  Y:12,701,231...12,860,839
Ensembl chr  Y:12,537,650...12,860,839 		JBrowse link
G VAMP7 vesicle associated membrane protein 7 IAGP HPO ORPHA:251510 NCBI chr  X:155,881,345...155,943,769
NCBI chr  Y:57,067,865...57,130,289
Ensembl chr  Y:57,067,865...57,130,289
Ensembl chr  X:57,067,865...57,130,289 		JBrowse link
G VCY variable charge Y-linked IAGP HPO OMIM:415000 NCBI chr  Y:13,985,772...13,986,473
Ensembl chr  Y:13,985,772...13,986,473 		JBrowse link
G WDR11 WD repeat domain 11 IAGP HPO ORPHA:432 NCBI chr10:120,851,362...120,909,524
Ensembl chr10:120,851,305...120,909,524 		JBrowse link
G WNT4 Wnt family member 4 IAGP HPO ORPHA:2578 NCBI chr 1:22,117,313...22,143,097
Ensembl chr 1:22,117,313...22,143,969 		JBrowse link
G WT1 WT1 transcription factor IAGP HPO ORPHA:251510 NCBI chr11:32,387,775...32,435,539
Ensembl chr11:32,387,775...32,435,564 		JBrowse link
G WWOX WW domain containing oxidoreductase IAGP HPO ORPHA:251510 NCBI chr16:78,099,654...79,212,667
Ensembl chr16:78,099,400...79,212,667 		JBrowse link
G XKRY XK related, Y-linked (pseudogene) IAGP HPO OMIM:415000 NCBI chr  Y:17,768,980...17,770,560
Ensembl chr  Y:17,768,980...17,770,560
Ensembl chr  Y:17,768,980...17,770,560 		JBrowse link
G XRCC2 X-ray repair cross complementing 2 IAGP HPO OMIM:619145 ORPHA:399805 ORPHA:84 NCBI chr 7:152,644,776...152,676,141
Ensembl chr 7:152,644,776...152,676,193 		JBrowse link
G ZFPM2 zinc finger protein, FOG family member 2 IAGP HPO ORPHA:251510 NCBI chr 8:105,318,438...105,804,539
Ensembl chr 8:104,590,733...105,804,539 		JBrowse link
G ZMYND15 zinc finger MYND-type containing 15 IAGP HPO OMIM:615842 ORPHA:399805 NCBI chr17:4,739,833...4,746,119
Ensembl chr17:4,739,833...4,746,119 		JBrowse link
Non-obstructive azoospermia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AC009123.1 novel transcript, antisense to ADAD2 IAGP ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar PMID:25741868 NCBI chr16:84,192,558...84,197,053
Ensembl chr16:84,192,558...84,197,053 		JBrowse link
G ADAD2 adenosine deaminase domain containing 2 IAGP ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar PMID:25741868 NCBI chr16:84,191,157...84,197,166
Ensembl chr16:84,191,138...84,197,168 		JBrowse link
G AR androgen receptor IAGP ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar PMID:25741868 PMID:28492532 PMID:36572623 NCBI chr  X:67,544,021...67,730,619
Ensembl chr  X:67,544,021...67,730,619 		JBrowse link
G C14orf39 chromosome 14 open reading frame 39 IAGP ClinVar Annotator: match by term: Testicular azoospermia ClinVar PMID:33508233 NCBI chr14:60,435,956...60,515,544
Ensembl chr14:60,396,469...60,515,543 		JBrowse link
G CATIP ciliogenesis associated TTC17 interacting protein IAGP HPO ORPHA:399805 NCBI chr 2:218,356,857...218,368,094
Ensembl chr 2:218,356,857...218,368,099 		JBrowse link
G CCDC34 coiled-coil domain containing 34 IAGP HPO ORPHA:399805 NCBI chr11:27,338,512...27,363,215
Ensembl chr11:27,330,827...27,363,234 		JBrowse link
G CFTR CF transmembrane conductance regulator IAGP HPO ORPHA:399805 NCBI chr 7:117,480,025...117,668,665
Ensembl chr 7:117,287,120...117,715,971 		JBrowse link
G CHD7 chromodomain helicase DNA binding protein 7 IAGP HPO ORPHA:432 NCBI chr 8:60,678,740...60,868,028
Ensembl chr 8:60,678,740...60,868,028 		JBrowse link
G CT55 cancer/testis antigen 55 IAGP HPO ORPHA:399805 NCBI chr  X:135,156,536...135,171,827
Ensembl chr  X:135,156,540...135,171,398 		JBrowse link
G DAZ1 deleted in azoospermia 1 IAGP HPO ORPHA:1646 NCBI chr  Y:23,129,355...23,199,094
Ensembl chr  Y:23,129,355...23,199,010 		JBrowse link
G DAZ2 deleted in azoospermia 2 IAGP HPO ORPHA:1646 NCBI chr  Y:23,219,457...23,291,356
Ensembl chr  Y:23,219,447...23,291,356 		JBrowse link
G DAZ3 deleted in azoospermia 3 IAGP HPO ORPHA:1646 NCBI chr  Y:24,763,069...24,813,393
Ensembl chr  Y:24,763,069...24,813,492 		JBrowse link
G DAZ4 deleted in azoospermia 4 IAGP HPO ORPHA:1646 NCBI chr  Y:24,833,820...24,907,040
Ensembl chr  Y:24,833,843...24,907,040 		JBrowse link
G DDX3Y DEAD-box helicase 3 Y-linked IAGP ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar
HPO		 PMID:25741868 ORPHA:1646 NCBI chr  Y:12,903,999...12,920,478
Ensembl chr  Y:12,904,108...12,920,478 		JBrowse link
G DMRT1 doublesex and mab-3 related transcription factor 1 IAGP ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar PMID:24934491 PMID:25741868 PMID:28492532 PMID:31479588 NCBI chr 9:841,697...969,090
Ensembl chr 9:841,690...969,090 		JBrowse link
G DNAH10 dynein axonemal heavy chain 10 IAGP HPO ORPHA:399805 NCBI chr12:123,762,301...123,935,720
Ensembl chr12:123,762,188...123,935,720 		JBrowse link
G DNHD1 dynein heavy chain domain 1 IAGP HPO ORPHA:399805 NCBI chr11:6,497,280...6,572,020
Ensembl chr11:6,497,260...6,593,758 		JBrowse link
G DNMT3B DNA methyltransferase 3 beta IAGP ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar PMID:10647011 PMID:11102980 PMID:11919202 PMID:15580563 PMID:25741868 More... NCBI chr20:32,762,385...32,809,356
Ensembl chr20:32,762,385...32,809,359 		JBrowse link
G DUSP6 dual specificity phosphatase 6 IAGP HPO ORPHA:432 NCBI chr12:89,347,235...89,352,501
Ensembl chr12:89,347,235...89,352,501 		JBrowse link
G FANCM FA complementation group M IAGP HPO OMIM:618086 ORPHA:399805 NCBI chr14:45,135,930...45,200,890
Ensembl chr14:45,135,930...45,200,890 		JBrowse link
G FBXO43 F-box protein 43 IAGP HPO ORPHA:399805 NCBI chr 8:100,133,351...100,150,569
Ensembl chr 8:100,133,351...100,145,817 		JBrowse link
G FGF17 fibroblast growth factor 17 IAGP HPO ORPHA:432 NCBI chr 8:22,039,672...22,048,809
Ensembl chr 8:22,042,398...22,048,809 		JBrowse link
G FGF8 fibroblast growth factor 8 IAGP HPO ORPHA:432 NCBI chr10:101,770,109...101,780,369
Ensembl chr10:101,770,109...101,780,371 		JBrowse link
G FGFR1 fibroblast growth factor receptor 1 IAGP HPO ORPHA:432 NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834 		JBrowse link
G FOXP3 forkhead box P3 IAGP ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar PMID:24258212 PMID:25741868 PMID:28492532 NCBI chr  X:49,250,438...49,264,710
Ensembl chr  X:49,250,438...49,264,800 		JBrowse link
G GCNA germ cell nuclear acidic peptidase IAGP ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar PMID:25741868 PMID:33963445 PMID:34413498 NCBI chr  X:71,578,437...71,613,583
Ensembl chr  X:71,578,437...71,613,583 		JBrowse link
G GNRH1 gonadotropin releasing hormone 1 IAGP HPO ORPHA:432 NCBI chr 8:25,419,258...25,425,040
Ensembl chr 8:25,419,258...25,424,654 		JBrowse link
G GNRHR gonadotropin releasing hormone receptor IAGP HPO ORPHA:432 NCBI chr 4:67,737,118...67,754,388
Ensembl chr 4:67,737,118...67,754,388 		JBrowse link
G HS6ST1 heparan sulfate 6-O-sulfotransferase 1 IAGP HPO ORPHA:432 NCBI chr 2:128,265,480...128,318,868
Ensembl chr 2:128,236,716...128,318,868 		JBrowse link
G KASH5 KASH domain containing 5 IAGP HPO OMIM:620547 NCBI chr19:49,388,249...49,417,990
Ensembl chr19:49,388,219...49,417,990 		JBrowse link
G KISS1 KiSS-1 metastasis suppressor IAGP HPO ORPHA:432 NCBI chr 1:204,190,341...204,196,491
Ensembl chr 1:204,190,341...204,196,491 		JBrowse link
G KISS1R KISS1 receptor IAGP HPO ORPHA:432 NCBI chr19:917,333...921,005
Ensembl chr19:917,287...921,005 		JBrowse link
G KLHL10 kelch like family member 10 IAGP ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar
HPO		 PMID:25741868 PMID:28492532 PMID:31479588 ORPHA:399805 NCBI chr17:41,835,685...41,848,384
Ensembl chr17:41,835,685...41,848,384 		JBrowse link
G LOC126862424 CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:84227912-84229111 IAGP ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar PMID:25741868 NCBI chr16:84,194,306...84,195,505 JBrowse link
G LOC130001446 ATAC-STARR-seq lymphoblastoid active region 28121 IAGP ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar PMID:24934491 PMID:25741868 PMID:28492532 PMID:31479588 NCBI chr 9:893,926...894,245 JBrowse link
G M1AP meiosis 1 associated protein IAGP ClinVar Annotator: match by term: Testicular azoospermia
ClinVar Annotator: match by term: Non-obstructive azoospermia		 ClinVar PMID:25741868 PMID:32673564 NCBI chr 2:74,557,883...74,648,330
Ensembl chr 2:74,557,883...74,648,338 		JBrowse link
G MCM9 minichromosome maintenance 9 homologous recombination repair factor IAGP ClinVar Annotator: match by term: Testicular azoospermia ClinVar PMID:25480036 PMID:25741868 PMID:31042289 NCBI chr 6:118,813,455...118,935,159
Ensembl chr 6:118,813,442...118,935,162 		JBrowse link
G MEIOB meiosis specific with OB-fold IAGP HPO OMIM:617706 ORPHA:399805 NCBI chr16:1,833,986...1,872,164
Ensembl chr16:1,833,986...1,884,294 		JBrowse link
G MON1B MON1 homolog B, secretory trafficking associated IAGP ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar PMID:25741868 PMID:28492532 PMID:31479588 NCBI chr16:77,191,190...77,202,398
Ensembl chr16:77,190,835...77,202,398 		JBrowse link
G MOV10L1 Mov10 like RNA helicase 1 IAGP ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar
HPO		 PMID:25741868 PMID:35476666 OMIM:619878 ORPHA:399805 NCBI chr22:50,090,006...50,161,687
Ensembl chr22:50,090,006...50,161,690 		JBrowse link
G MSH4 mutS homolog 4 IAGP ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar
HPO		 PMID:25741868 PMID:33448284 PMID:34755185 OMIM:108420 NCBI chr 1:75,796,882...75,913,242
Ensembl chr 1:75,796,882...75,913,242 		JBrowse link
G MSH5 mutS homolog 5 IAGP ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar
HPO		 PMID:25741868 PMID:34755185 OMIM:619937 ORPHA:399805 NCBI chr 6:31,740,005...31,762,676
Ensembl chr 6:31,739,677...31,762,676 		JBrowse link
G MSH5-SAPCD1 MSH5-SAPCD1 readthrough (NMD candidate) IAGP ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar PMID:25741868 PMID:34755185 NCBI chr 6:31,739,948...31,764,850
Ensembl chr 6:31,740,020...31,764,851 		JBrowse link
G NANOS1 nanos C2HC-type zinc finger 1 IAGP HPO ORPHA:399805 NCBI chr10:119,029,714...119,033,730
Ensembl chr10:119,029,714...119,033,730 		JBrowse link
G NHLH2 nescient helix-loop-helix 2 IAGP HPO ORPHA:432 NCBI chr 1:115,831,344...115,841,126
Ensembl chr 1:115,836,377...115,843,917 		JBrowse link
G NPAS2 neuronal PAS domain protein 2 IAGP ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar PMID:25956372 NCBI chr 2:100,818,723...100,996,829
Ensembl chr 2:100,820,139...100,996,829 		JBrowse link
G NPAS2-AS1 NPAS2 antisense RNA 1 IAGP ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar PMID:25956372 NCBI chr 2:100,972,648...100,977,161 JBrowse link
G NR5A1 nuclear receptor subfamily 5 group A member 1 IAGP ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar
HPO		 PMID:18414213 PMID:20887963 PMID:25741868 PMID:25989977 PMID:28492532 More... ORPHA:399805 NCBI chr 9:124,481,236...124,507,399
Ensembl chr 9:124,481,236...124,507,420 		JBrowse link
G NSMF NMDA receptor synaptonuclear signaling and neuronal migration factor IAGP HPO ORPHA:432 NCBI chr 9:137,447,570...137,459,334
Ensembl chr 9:137,447,570...137,459,334 		JBrowse link
G PDHA2 pyruvate dehydrogenase E1 subunit alpha 2 IAGP HPO ORPHA:399805 NCBI chr 4:95,840,093...95,841,464
Ensembl chr 4:95,840,093...95,841,464 		JBrowse link
G PNLDC1 PARN like ribonuclease domain containing exonuclease 1 IAGP ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar
HPO		 PMID:25741868 OMIM:619528 ORPHA:399805 NCBI chr 6:159,799,455...159,820,704
Ensembl chr 6:159,800,249...159,820,704 		JBrowse link
G PROK2 prokineticin 2 IAGP HPO ORPHA:432 NCBI chr 3:71,771,655...71,785,148
Ensembl chr 3:71,771,655...71,785,206 		JBrowse link
G PROKR2 prokineticin receptor 2 IAGP HPO ORPHA:432 NCBI chr20:5,299,218...5,316,954
Ensembl chr20:5,299,218...5,316,954 		JBrowse link
G RAD21L1 RAD21 cohesin complex component like 1 IAGP ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar PMID:25741868 NCBI chr20:1,226,044...1,255,876
Ensembl chr20:1,226,044...1,296,421 		JBrowse link
G RBMY1A1 RNA binding motif protein Y-linked family 1 member A1 IAGP HPO ORPHA:1646 NCBI chr  Y:21,534,879...21,559,683
Ensembl chr  Y:21,534,879...21,549,326 		JBrowse link
G REC8 REC8 meiotic recombination protein IAGP ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar PMID:25741868 PMID:31479588 NCBI chr14:24,172,080...24,180,923
Ensembl chr14:24,171,853...24,180,257 		JBrowse link
G RNF212 ring finger protein 212 IAGP ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar
HPO		 PMID:25741868 OMIM:619673 ORPHA:399805 NCBI chr 4:1,056,251...1,113,710
Ensembl chr 4:1,056,250...1,113,564 		JBrowse link
G RPL10L ribosomal protein L10 like IAGP HPO ORPHA:399805 NCBI chr14:46,651,010...46,651,781
Ensembl chr14:46,651,010...46,651,781 		JBrowse link
G SHOC1 shortage in chiasmata 1 IAGP HPO OMIM:619949 ORPHA:399805 NCBI chr 9:111,686,171...111,794,937
Ensembl chr 9:111,686,171...111,795,008 		JBrowse link
G SOHLH1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 IAGP HPO OMIM:618115 ORPHA:399805 NCBI chr 9:135,693,407...135,702,112
Ensembl chr 9:135,693,407...135,704,498 		JBrowse link
G SPAG17 sperm associated antigen 17 IAGP HPO ORPHA:399805 NCBI chr 1:117,953,590...118,185,228
Ensembl chr 1:117,953,590...118,185,228 		JBrowse link
G SPINK2 serine peptidase inhibitor Kazal type 2 IAGP HPO OMIM:618091 NCBI chr 4:56,809,860...56,821,869
Ensembl chr 4:56,809,860...56,821,742 		JBrowse link
G SPO11 SPO11 initiator of meiotic double strand breaks IAGP ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar PMID:25741868 NCBI chr20:57,329,803...57,343,993
Ensembl chr20:57,329,803...57,343,994 		JBrowse link
G SPRY4 sprouty RTK signaling antagonist 4 IAGP HPO ORPHA:432 NCBI chr 5:142,310,430...142,325,021
Ensembl chr 5:142,310,427...142,326,455 		JBrowse link
G STAG3 STAG3 cohesin complex component IAGP ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar
HPO		 PMID:25741868 PMID:31682730 PMID:35176428 OMIM:619672 ORPHA:399805 NCBI chr 7:100,177,724...100,219,334
Ensembl chr 7:100,177,563...100,214,387 		JBrowse link
G SYCE1 synaptonemal complex central element protein 1 IAGP HPO OMIM:616950 ORPHA:399805 NCBI chr10:133,553,899...133,568,291
Ensembl chr10:133,553,901...133,569,835 		JBrowse link
G SYCE1L synaptonemal complex central element protein 1 like IAGP ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar PMID:25741868 PMID:28492532 PMID:31479588 NCBI chr16:77,199,408...77,213,215
Ensembl chr16:77,199,408...77,213,215 		JBrowse link
G SYCP2 synaptonemal complex protein 2 IAGP ClinVar Annotator: match by term: Testicular azoospermia ClinVar PMID:25741868 PMID:31866047 NCBI chr20:59,863,571...59,933,637
Ensembl chr20:59,863,564...59,933,655 		JBrowse link
G SYCP3 synaptonemal complex protein 3 IAGP HPO ORPHA:399805 NCBI chr12:101,728,648...101,739,462
Ensembl chr12:101,728,648...101,739,472 		JBrowse link
G TAC3 tachykinin precursor 3 IAGP HPO ORPHA:432 NCBI chr12:57,010,000...57,016,529
Ensembl chr12:57,010,000...57,028,883 		JBrowse link
G TACR3 tachykinin receptor 3 IAGP HPO ORPHA:432 NCBI chr 4:103,586,031...103,719,985
Ensembl chr 4:103,586,031...103,719,985 		JBrowse link
G TAF4B TATA-box binding protein associated factor 4b IAGP HPO ORPHA:399805 NCBI chr18:26,226,445...26,391,685
Ensembl chr18:26,226,445...26,391,685 		JBrowse link
G TDRD9 tudor domain containing 9 IAGP HPO ORPHA:399805 NCBI chr14:103,928,456...104,052,667
Ensembl chr14:103,928,456...104,052,667 		JBrowse link
G TERB1 telomere repeat binding bouquet formation protein 1 IAGP ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar
HPO		 PMID:25741868 PMID:33211200 OMIM:619646 ORPHA:399805 NCBI chr16:66,754,640...66,802,025
Ensembl chr16:66,754,640...66,801,620 		JBrowse link
G TERB2 telomere repeat binding bouquet formation protein 2 IAGP ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar
HPO		 PMID:25741868 OMIM:619645 ORPHA:399805 NCBI chr15:44,956,687...44,979,229
Ensembl chr15:44,956,687...44,979,229 		JBrowse link
G TEX11 testis expressed 11 IAGP ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar
HPO		 PMID:25970010 PMID:28132688 ORPHA:399805 NCBI chr  X:70,511,227...70,908,711
Ensembl chr  X:70,528,940...70,908,711 		JBrowse link
G TEX14 testis expressed 14, intercellular bridge forming factor IAGP ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar
HPO		 PMID:25741868 PMID:28492532 PMID:31479588 ORPHA:399805 NCBI chr17:58,556,678...58,692,045
Ensembl chr17:58,556,678...58,692,055 		JBrowse link
G TEX15 testis expressed 15, meiosis and synapsis associated IAGP ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar
HPO		 PMID:25741868 PMID:28492532 PMID:31479588 OMIM:617960 ORPHA:399805 NCBI chr 8:30,831,544...30,913,008
Ensembl chr 8:30,831,544...30,913,008 		JBrowse link
G TRIM71 tripartite motif containing 71 IAGP ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar PMID:25741868 NCBI chr 3:32,817,997...32,897,824
Ensembl chr 3:32,817,997...32,897,824 		JBrowse link
G TSPY1 testis specific protein Y-linked 1 IAGP HPO ORPHA:1646 NCBI chr  Y:9,466,955...9,469,749
Ensembl chr  Y:9,466,955...9,469,749 		JBrowse link
G USP9Y ubiquitin specific peptidase 9 Y-linked IAGP HPO ORPHA:1646 NCBI chr  Y:12,701,231...12,860,839
Ensembl chr  Y:12,537,650...12,860,839 		JBrowse link
G WDR11 WD repeat domain 11 IAGP HPO ORPHA:432 NCBI chr10:120,851,362...120,909,524
Ensembl chr10:120,851,305...120,909,524 		JBrowse link
G XRCC2 X-ray repair cross complementing 2 IAGP HPO ORPHA:399805 NCBI chr 7:152,644,776...152,676,141
Ensembl chr 7:152,644,776...152,676,193 		JBrowse link
G ZMYND15 zinc finger MYND-type containing 15 IAGP ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar
HPO		 PMID:25741868 ORPHA:399805 NCBI chr17:4,739,833...4,746,119
Ensembl chr17:4,739,833...4,746,119 		JBrowse link
G ZSWIM7 zinc finger SWIM-type containing 7 IAGP ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar
HPO		 PMID:25741868 PMID:32719396 PMID:33713115 OMIM:619831 NCBI chr17:15,976,560...15,999,704
Ensembl chr17:15,976,560...15,999,717 		JBrowse link
Obstructive azoospermia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADGRG2 adhesion G protein-coupled receptor G2 IAGP HPO ORPHA:48 NCBI chr  X:18,989,307...19,122,956
Ensembl chr  X:18,989,307...19,122,637 		JBrowse link
G CATIP ciliogenesis associated TTC17 interacting protein IAGP HPO ORPHA:399805 NCBI chr 2:218,356,857...218,368,094
Ensembl chr 2:218,356,857...218,368,099 		JBrowse link
G CCDC34 coiled-coil domain containing 34 IAGP HPO ORPHA:399805 NCBI chr11:27,338,512...27,363,215
Ensembl chr11:27,330,827...27,363,234 		JBrowse link
G CFTR CF transmembrane conductance regulator IAGP ClinVar Annotator: match by term: Obstructive azoospermia ClinVar
HPO		 PMID:1283148 PMID:1284534 PMID:1284535 PMID:1284639 PMID:1370875 More... ORPHA:399805 ORPHA:48 NCBI chr 7:117,480,025...117,668,665
Ensembl chr 7:117,287,120...117,715,971 		JBrowse link
G CFTR-AS1 CFTR antisense RNA 1 IAGP ClinVar Annotator: match by term: Obstructive azoospermia ClinVar PMID:1284535 PMID:1370875 PMID:1377276 PMID:1379413 PMID:1380673 More... NCBI chr 7:117,542,521...117,564,676
Ensembl chr 7:117,560,733...117,564,676 		JBrowse link
G CLDN2 claudin 2 IAGP HPO OMIM:301060 NCBI chr  X:106,900,164...106,930,861
Ensembl chr  X:106,900,164...106,930,861 		JBrowse link
G CT55 cancer/testis antigen 55 IAGP HPO ORPHA:399805 NCBI chr  X:135,156,536...135,171,827
Ensembl chr  X:135,156,540...135,171,398 		JBrowse link
G DNAH10 dynein axonemal heavy chain 10 IAGP HPO ORPHA:399805 NCBI chr12:123,762,301...123,935,720
Ensembl chr12:123,762,188...123,935,720 		JBrowse link
G DNHD1 dynein heavy chain domain 1 IAGP HPO ORPHA:399805 NCBI chr11:6,497,280...6,572,020
Ensembl chr11:6,497,260...6,593,758 		JBrowse link
G FANCM FA complementation group M IAGP HPO ORPHA:399805 NCBI chr14:45,135,930...45,200,890
Ensembl chr14:45,135,930...45,200,890 		JBrowse link
G FBXO43 F-box protein 43 IAGP HPO ORPHA:399805 NCBI chr 8:100,133,351...100,150,569
Ensembl chr 8:100,133,351...100,145,817 		JBrowse link
G KLHL10 kelch like family member 10 IAGP HPO ORPHA:399805 NCBI chr17:41,835,685...41,848,384
Ensembl chr17:41,835,685...41,848,384 		JBrowse link
G LOC111674472 DNase I hypersensitive sites in introns 16 and 17a of CFTR IAGP ClinVar Annotator: match by term: Obstructive azoospermia ClinVar PMID:1284534 PMID:1379210 PMID:7512860 PMID:7529319 PMID:7539342 More... NCBI chr 7:117,607,047...117,612,650 JBrowse link
G LOC113664106 CFTR intron 2 DNase I hypersensitive site IAGP ClinVar Annotator: match by term: Obstructive azoospermia ClinVar PMID:23974870 PMID:25741868 PMID:28603918 NCBI chr 7:117,508,463...117,509,063 JBrowse link
G LOC113664107 CFTR intron 3 DNase I hypersensitive site IAGP ClinVar Annotator: match by term: Obstructive azoospermia ClinVar PMID:23974870 PMID:25741868 PMID:28603918 NCBI chr 7:117,509,543...117,510,143 JBrowse link
G MEIOB meiosis specific with OB-fold IAGP HPO ORPHA:399805 NCBI chr16:1,833,986...1,872,164
Ensembl chr16:1,833,986...1,884,294 		JBrowse link
G MOV10L1 Mov10 like RNA helicase 1 IAGP HPO ORPHA:399805 NCBI chr22:50,090,006...50,161,687
Ensembl chr22:50,090,006...50,161,690 		JBrowse link
G MSH5 mutS homolog 5 IAGP HPO ORPHA:399805 NCBI chr 6:31,740,005...31,762,676
Ensembl chr 6:31,739,677...31,762,676 		JBrowse link
G NANOS1 nanos C2HC-type zinc finger 1 IAGP HPO ORPHA:399805 NCBI chr10:119,029,714...119,033,730
Ensembl chr10:119,029,714...119,033,730 		JBrowse link
G NR5A1 nuclear receptor subfamily 5 group A member 1 IAGP HPO ORPHA:399805 NCBI chr 9:124,481,236...124,507,399
Ensembl chr 9:124,481,236...124,507,420 		JBrowse link
G PDHA2 pyruvate dehydrogenase E1 subunit alpha 2 IAGP HPO ORPHA:399805 NCBI chr 4:95,840,093...95,841,464
Ensembl chr 4:95,840,093...95,841,464 		JBrowse link
G PNLDC1 PARN like ribonuclease domain containing exonuclease 1 IAGP HPO ORPHA:399805 NCBI chr 6:159,799,455...159,820,704
Ensembl chr 6:159,800,249...159,820,704 		JBrowse link
G RNF212 ring finger protein 212 IAGP HPO ORPHA:399805 NCBI chr 4:1,056,251...1,113,710
Ensembl chr 4:1,056,250...1,113,564 		JBrowse link
G RPL10L ribosomal protein L10 like IAGP HPO ORPHA:399805 NCBI chr14:46,651,010...46,651,781
Ensembl chr14:46,651,010...46,651,781 		JBrowse link
G SHOC1 shortage in chiasmata 1 IAGP HPO ORPHA:399805 NCBI chr 9:111,686,171...111,794,937
Ensembl chr 9:111,686,171...111,795,008 		JBrowse link
G SOHLH1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 IAGP HPO ORPHA:399805 NCBI chr 9:135,693,407...135,702,112
Ensembl chr 9:135,693,407...135,704,498 		JBrowse link
G SPAG17 sperm associated antigen 17 IAGP HPO ORPHA:399805 NCBI chr 1:117,953,590...118,185,228
Ensembl chr 1:117,953,590...118,185,228 		JBrowse link
G STAG3 STAG3 cohesin complex component IAGP HPO ORPHA:399805 NCBI chr 7:100,177,724...100,219,334
Ensembl chr 7:100,177,563...100,214,387 		JBrowse link
G SYCE1 synaptonemal complex central element protein 1 IAGP HPO ORPHA:399805 NCBI chr10:133,553,899...133,568,291
Ensembl chr10:133,553,901...133,569,835 		JBrowse link
G SYCP3 synaptonemal complex protein 3 IAGP HPO ORPHA:399805 NCBI chr12:101,728,648...101,739,462
Ensembl chr12:101,728,648...101,739,472 		JBrowse link
G TAF4B TATA-box binding protein associated factor 4b IAGP HPO ORPHA:399805 NCBI chr18:26,226,445...26,391,685
Ensembl chr18:26,226,445...26,391,685 		JBrowse link
G TDRD9 tudor domain containing 9 IAGP HPO ORPHA:399805 NCBI chr14:103,928,456...104,052,667
Ensembl chr14:103,928,456...104,052,667 		JBrowse link
G TERB1 telomere repeat binding bouquet formation protein 1 IAGP HPO ORPHA:399805 NCBI chr16:66,754,640...66,802,025
Ensembl chr16:66,754,640...66,801,620 		JBrowse link
G TERB2 telomere repeat binding bouquet formation protein 2 IAGP HPO ORPHA:399805 NCBI chr15:44,956,687...44,979,229
Ensembl chr15:44,956,687...44,979,229 		JBrowse link
G TEX11 testis expressed 11 IAGP HPO ORPHA:399805 NCBI chr  X:70,511,227...70,908,711
Ensembl chr  X:70,528,940...70,908,711 		JBrowse link
G TEX14 testis expressed 14, intercellular bridge forming factor IAGP HPO ORPHA:399805 NCBI chr17:58,556,678...58,692,045
Ensembl chr17:58,556,678...58,692,055 		JBrowse link
G TEX15 testis expressed 15, meiosis and synapsis associated IAGP HPO ORPHA:399805 NCBI chr 8:30,831,544...30,913,008
Ensembl chr 8:30,831,544...30,913,008 		JBrowse link
G XRCC2 X-ray repair cross complementing 2 IAGP HPO ORPHA:399805 NCBI chr 7:152,644,776...152,676,141
Ensembl chr 7:152,644,776...152,676,193 		JBrowse link
G ZMYND15 zinc finger MYND-type containing 15 IAGP HPO ORPHA:399805 NCBI chr17:4,739,833...4,746,119
Ensembl chr17:4,739,833...4,746,119 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 21570
    Phenotypic abnormality 21560
      Abnormality of the genitourinary system 4426
        Abnormality of the genital system 3247
          Abnormality of reproductive system physiology 1375
            Abnormal male reproductive system physiology 395
              Functional abnormality of male internal genitalia 329
                Abnormal spermatogenesis 209
                  Azoospermia 172
                    Non-obstructive azoospermia + 85
                    Obstructive azoospermia 39
                    Pretesticular azoospermia 0
paths to the root