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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:azoospermia
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Accession:DOID:14227 term browser browse the term
Definition:A male infertility disease characterized by the absence of any measurable level of sperm in semen. (DO)
Synonyms:narrow_synonym: OBSTRUCTIVE AZOOSPERMIA;   idiopathic azoospermia
 primary_id: MESH:D053713
 xref: EFO:0000279;   ICD10CM:N46.0;   ICD9CM:606.0;   NCI:C80076;   ORDO:217034
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
azoospermia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alb albumin ISO CTD Direct Evidence: therapeutic CTD PMID:27289041 NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836 		JBrowse link
G Bcl2 BCL2, apoptosis regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:20610805 NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743
Ensembl chr13:22,684,989...22,853,743 		JBrowse link
G Bcl2l2 Bcl2-like 2 ISO RGD PMID:9770502 RGD:14394611 NCBI chr15:28,346,449...28,361,627
Ensembl chr15:28,356,807...28,361,624 		JBrowse link
G Brdt bromodomain testis associated susceptibility ISO protein:decreased expression:testis:
DNA:SNP: :rs3088232(human)		 RGD PMID:22035730 PMID:22016351 RGD:9586359, RGD:9586360 NCBI chr14:2,387,372...2,445,857
Ensembl chr14:2,387,796...2,445,842 		JBrowse link
G Bscl2 BSCL2 lipid droplet biogenesis associated, seipin IMP RGD PMID:25934999 RGD:11085488 NCBI chr 1:205,731,828...205,743,430
Ensembl chr 1:205,733,872...205,743,421 		JBrowse link
G Bscl2m1Kyo BSCL2, seipin lipid droplet biogenesis associated; ENU induced mutant1, Kyo IMP RGD PMID:25934999 RGD:11085488
G Cftr CF transmembrane conductance regulator ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Obstructive azoospermia		 CTD
ClinVar		 PMID:1283148 PMID:1284534 PMID:1284535 PMID:1284639 PMID:1370875 More... NCBI chr 4:46,561,269...46,728,759
Ensembl chr 4:46,560,885...46,728,756 		JBrowse link
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 		JBrowse link
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 		JBrowse link
G Epas1 endothelial PAS domain protein 1 ISO RGD PMID:14608355 RGD:734934 NCBI chr 6:7,790,236...7,871,717
Ensembl chr 6:7,790,647...7,871,228 		JBrowse link
G Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit susceptibility ISO DNA:snp:3' utr:c.8092C>A (human) RGD PMID:18616887 RGD:13207429 NCBI chr 1:78,971,310...79,007,963
Ensembl chr 1:78,996,390...79,007,963 		JBrowse link
G 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 		JBrowse link
G Fancm FA complementation group M ISO ClinVar Annotator: match by term: Azoospermia ClinVar PMID:17289582 PMID:18174376 PMID:19379763 PMID:23409019 PMID:23932590 More... NCBI chr 6:83,126,903...83,180,455
Ensembl chr 6:83,127,093...83,180,028 		JBrowse link
G Gopc golgi associated PDZ and coiled-coil motif containing ISS OMIM:102530 | OMIM:108420 | OMIM:243060 | OMIM:258150 | OMIM:270960 | OMIM:309120 | OMIM:415000 | OMIM:606766 | OMIM:612997 | OMIM:613957 | OMIM:613958 | OMIM:614822 | OMIM:615081 | OMIM:615413 | OMIM:615841 | OMIM:615842 MouseDO NCBI chr20:31,727,617...31,776,904
Ensembl chr20:31,727,620...31,776,903 		JBrowse link
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 		JBrowse link
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 		JBrowse link
G Hsd17b10 hydroxysteroid (17-beta) dehydrogenase 10 ISO mRNA:increased expression:testis RGD PMID:9851691 RGD:13792783 NCBI chr  X:21,089,142...21,091,603
Ensembl chr  X:21,089,122...21,109,488 		JBrowse link
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 		JBrowse link
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 		JBrowse link
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 		JBrowse link
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 		JBrowse link
G Mov10l1 Mov10 like RNA helicase 1 ISO ClinVar Annotator: match by term: Azoospermia ClinVar NCBI chr 7:120,070,171...120,135,406
Ensembl chr 7:120,070,135...120,134,765 		JBrowse link
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 		JBrowse link
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 JBrowse link
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 		JBrowse link
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 		JBrowse link
G Sycp3 synaptonemal complex protein 3 ISO
ISS		 CTD Direct Evidence: marker/mechanism CTD
MouseDO		 PMID:14643120 NCBI chr 7:22,874,055...22,888,512
Ensembl chr 7:22,874,055...22,888,511 		JBrowse link
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 		JBrowse link
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 		JBrowse link
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 		JBrowse link
autosomal recessive congenital bilateral absence of vas deferens term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adgrg2 adhesion G protein-coupled receptor G2 ISO ClinVar Annotator: match by term: Congenital bilateral aplasia of vas deferens from CFTR mutation ClinVar PMID:25741868 PMID:27476656 NCBI chr  X:34,297,402...34,422,590
Ensembl chr  X:34,297,402...34,422,609 		JBrowse link
G Cftr CF transmembrane conductance regulator ISO ClinVar Annotator: match by term: Congenital bilateral aplasia of vas deferens from CFTR mutation OMIM
ClinVar		 PMID:754013 PMID:1282016 PMID:1283148 PMID:1283149 PMID:1284466 More... NCBI chr 4:46,561,269...46,728,759
Ensembl chr 4:46,560,885...46,728,756 		JBrowse link
AZOOSPERMIA, OBSTRUCTIVE, WITH NEPHROLITHIASIS term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cldn2 claudin 2 ISO ClinVar Annotator: match by term: Azoospermia, obstructive, with nephrolithiasis ClinVar
OMIM		 PMID:31320686 NCBI chr  X:103,459,870...103,473,794
Ensembl chr  X:103,459,780...103,474,838 		JBrowse link
congenital bilateral absence of vas deferens term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adgrg2 adhesion G protein-coupled receptor G2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr  X:34,297,402...34,422,590
Ensembl chr  X:34,297,402...34,422,609 		JBrowse link
G Cftr CF transmembrane conductance regulator ISO
IMP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital bilateral absence of vas deferens
associated with Cystic Fibrosis
DNA:deletion, missense mutations: :multiple
DNA:deletion, nonsense mutations, missense mutations: :multiple		 CTD
ClinVar
RGD		 PMID:1381723 PMID:2344617 PMID:7506096 PMID:7539342 PMID:7573058 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 		JBrowse link
G Cftrem1Sage cystic fibrosis transmembrane conductance regulator; ZFN induced mutant 1 Sage IMP RGD PMID:24608905 RGD:11566051
spermatogenic failure 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zmynd15 zinc finger, MYND-type containing 15 ISO ClinVar Annotator: match by term: Spermatogenic failure 14 OMIM
ClinVar		 PMID:33169450 NCBI chr10:55,171,198...55,177,812
Ensembl chr10:55,171,198...55,177,812 		JBrowse link
spermatogenic failure 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Syce1 synaptonemal complex central element protein 1 ISO ClinVar Annotator: match by term: Spermatogenic failure 15 ClinVar
OMIM		 PMID:25899990 NCBI chr 1:195,852,171...195,863,174
Ensembl chr 1:195,852,172...195,863,174 		JBrowse link
spermatogenic failure 22 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fahd1 fumarylacetoacetate hydrolase domain containing 1 ISO ClinVar Annotator: match by term: Spermatogenic failure 22 ClinVar PMID:35991565 NCBI chr10:13,873,539...13,874,978
Ensembl chr10:13,873,527...13,875,012 		JBrowse link
G Meiob meiosis specific with OB-fold ISO ClinVar Annotator: match by term: Spermatogenic failure 22 OMIM
ClinVar		 PMID:28206990 PMID:28492532 PMID:30838384 PMID:34392356 PMID:35991565 More... NCBI chr10:13,833,170...13,865,684
Ensembl chr10:13,833,750...13,865,046 		JBrowse link
spermatogenic failure 23 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tex14 testis expressed 14, intercellular bridge forming factor ISO ClinVar Annotator: match by term: Spermatogenic failure 23 OMIM
ClinVar		 PMID:25741868 PMID:28206990 PMID:28492532 PMID:29790874 PMID:31479588 NCBI chr10:72,231,766...72,356,938
Ensembl chr10:72,231,801...72,355,805 		JBrowse link
spermatogenic failure 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 		JBrowse link
G Ar androgen receptor ISO ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar PMID:25741868 PMID:28492532 PMID:36572623 NCBI chr  X:63,104,771...63,273,934
Ensembl chr  X:63,104,771...63,273,925 		JBrowse link
G Axdnd1 axonemal dynein light chain domain containing 1 ISO ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar PMID:25741868 NCBI chr13:68,471,957...68,544,788
Ensembl chr13:68,458,411...68,544,172 		JBrowse link
G Ddx3y DEAD box helicase 3, Y-linked ISO ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar PMID:25741868 NCBI chr  Y:1,115,095...1,135,754
Ensembl chr  Y:1,116,309...1,135,706 		JBrowse link
G Dmrt1 doublesex and mab-3 related transcription factor 1 ISO ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar PMID:24934491 PMID:25741868 PMID:28492532 PMID:31479588 NCBI chr 1:223,142,859...223,241,333
Ensembl chr 1:223,142,859...223,241,333 		JBrowse link
G 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 		JBrowse link
G Klhl10 kelch-like family member 10 ISO ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar PMID:25741868 PMID:28492532 PMID:31479588 NCBI chr10:85,376,442...85,392,720
Ensembl chr10:85,376,442...85,392,720 		JBrowse link
G L3mbtl2 L3MBTL histone methyl-lysine binding protein 2 ISO ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar NCBI chr 7:113,186,303...113,209,706
Ensembl chr 7:113,186,370...113,207,489 		JBrowse link
G M1ap meiosis 1 associated protein ISO ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar PMID:25741868 PMID:32673564 NCBI chr 4:115,445,910...115,536,745
Ensembl chr 4:115,455,397...115,536,487 		JBrowse link
G 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 		JBrowse link
G Mon1b MON1 homolog B, secretory trafficking associated ISO ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar PMID:25741868 PMID:28492532 PMID:31479588 NCBI chr19:41,617,372...41,625,347
Ensembl chr19:41,617,364...41,625,347 		JBrowse link
G Mov10l1 Mov10 like RNA helicase 1 ISO ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar PMID:25741868 PMID:35476666 NCBI chr 7:120,070,171...120,135,406
Ensembl chr 7:120,070,135...120,134,765 		JBrowse link
G Msh4 mutS homolog 4 ISO ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar PMID:25741868 PMID:33448284 PMID:34755185 NCBI chr 2:242,785,392...242,844,609
Ensembl chr 2:242,792,661...242,843,487 		JBrowse link
G Msh5 mutS homolog 5 ISO ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar PMID:25741868 PMID:34755185 NCBI chr20:3,773,867...3,793,337
Ensembl chr20:3,776,942...3,793,336 		JBrowse link
G Npas2 neuronal PAS domain protein 2 ISO ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar PMID:25956372 NCBI chr 9:41,463,361...41,642,322
Ensembl chr 9:41,463,830...41,642,320 		JBrowse link
G Nr5a1 nuclear receptor subfamily 5, group A, member 1 ISO ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar PMID:18414213 PMID:20887963 PMID:25741868 PMID:25989977 PMID:28492532 More... NCBI chr 3:22,464,786...22,486,328
Ensembl chr 3:22,465,502...22,486,328 		JBrowse link
G Pnldc1 PARN like ribonuclease domain containing exonuclease 1 ISO ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar PMID:25741868 NCBI chr 1:47,843,224...47,861,675
Ensembl chr 1:47,843,224...47,861,674 		JBrowse link
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 		JBrowse link
G Rec8 REC8 meiotic recombination protein ISO ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar PMID:25741868 PMID:31479588 NCBI chr15:29,109,862...29,117,327
Ensembl chr15:29,109,863...29,117,326 		JBrowse link
G 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 		JBrowse link
G Six6os1 Six6 opposite strand transcript 1 ISO ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar PMID:33508233 NCBI chr 6:91,579,185...91,615,183
Ensembl chr 6:91,579,325...91,615,148 		JBrowse link
G Slc26a8 solute carrier family 26 member 8 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Spermatogenic failure 3		 OMIM
CTD
ClinVar		 PMID:23582645 PMID:25741868 PMID:28492532 PMID:34923715 NCBI chr20:6,686,206...6,749,478
Ensembl chr20:6,697,723...6,749,478 		JBrowse link
G Spo11 SPO11 initiator of meiotic double strand breaks ISO ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar PMID:25741868 NCBI chr 3:161,755,299...161,770,930
Ensembl chr 3:161,757,519...161,770,925 		JBrowse link
G Srsf6 serine and arginine rich splicing factor 6 susceptibility ISO DNA:snp:intron:g.IVS2+305T>C (rs6103330) (human) RGD PMID:24661730 RGD:11039404 NCBI chr 3:151,589,546...151,594,869
Ensembl chr 3:151,589,535...151,594,860 		JBrowse link
G Stag3 STAG3 cohesin complex component ISO ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar PMID:25741868 PMID:31682730 PMID:35176428 NCBI chr12:17,284,677...17,314,936
Ensembl chr12:17,284,794...17,314,935 		JBrowse link
G Syce1l synaptonemal complex central element protein 1-like ISO ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar PMID:25741868 PMID:28492532 PMID:31479588 NCBI chr19:41,625,074...41,635,541
Ensembl chr19:41,617,180...41,635,526 		JBrowse link
G 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 		JBrowse link
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 		JBrowse link
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 		JBrowse link
G Tex11 testis expressed 11 ISO ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar PMID:25970010 PMID:28132688 NCBI chr  X:65,932,904...66,196,525
Ensembl chr  X:65,932,988...66,196,187 		JBrowse link
G Tex14 testis expressed 14, intercellular bridge forming factor ISO ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar PMID:25741868 PMID:28492532 PMID:31479588 NCBI chr10:72,231,766...72,356,938
Ensembl chr10:72,231,801...72,355,805 		JBrowse link
G Tex15 testis expressed 15, meiosis and synapsis associated ISO ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar PMID:25741868 PMID:28492532 PMID:31479588 NCBI chr16:58,598,991...58,659,005
Ensembl chr16:58,598,989...58,658,467 		JBrowse link
G Trim71 tripartite motif containing 71 ISO ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar PMID:25741868 NCBI chr 8:114,193,439...114,250,807
Ensembl chr 8:114,199,187...114,250,807 		JBrowse link
G 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 		JBrowse link
G Zswim7 zinc finger, SWIM-type containing 7 ISO ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar PMID:25741868 PMID:32719396 PMID:33713115 NCBI chr10:46,953,311...46,969,800
Ensembl chr10:46,957,525...46,969,671 		JBrowse link
spermatogenic failure 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chpt1 choline phosphotransferase 1 ISO ClinVar Annotator: match by term: Spermatogenic failure 4 ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:22,866,455...22,915,111
Ensembl chr 7:22,863,027...22,915,103 		JBrowse link
G Hfm1 helicase for meiosis 1 ISO ClinVar Annotator: match by term: Spermatogenic failure 4 ClinVar NCBI chr14:2,857,251...2,943,766
Ensembl chr14:2,856,599...2,939,238 		JBrowse link
G M1ap meiosis 1 associated protein ISO ClinVar Annotator: match by term: Spermatogenesis maturation arrest ClinVar PMID:32017041 NCBI chr 4:115,445,910...115,536,745
Ensembl chr 4:115,455,397...115,536,487 		JBrowse link
G Rpl10l ribosomal protein L10 like ISO ClinVar Annotator: match by term: Spermatogenesis maturation arrest ClinVar PMID:32111475 NCBI chr 6:84,544,771...84,545,791
Ensembl chr 6:84,543,540...84,545,816 		JBrowse link
G Sycp2 synaptonemal complex protein 2 ISO ClinVar Annotator: match by term: Early spermatogenesis maturation arrest ClinVar PMID:25741868 PMID:31866047 NCBI chr 3:165,431,715...165,502,134
Ensembl chr 3:165,436,331...165,498,789 		JBrowse link
G Sycp3 synaptonemal complex protein 3 ISO ClinVar Annotator: match by term: Spermatogenic failure 4 OMIM
ClinVar		 PMID:14643120 PMID:19110213 PMID:25741868 PMID:28492532 PMID:28801929 More... NCBI chr 7:22,874,055...22,888,512
Ensembl chr 7:22,874,055...22,888,511 		JBrowse link
spermatogenic failure 48 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G M1ap meiosis 1 associated protein ISO ClinVar Annotator: match by term: Spermatogenic failure 48 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 		JBrowse link
spermatogenic failure 50 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Xrcc2 X-ray repair cross complementing 2 ISO ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 50 OMIM
ClinVar		 PMID:28492532 PMID:30042186 PMID:30489636 PMID:33194656 NCBI chr 4:9,423,873...9,502,980
Ensembl chr 4:9,423,898...9,442,482 		JBrowse link
spermatogenic failure 52 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scarf2 scavenger receptor class F, member 2 ISO Van den Ende-Gupta syndrome OMIA PMID:27187611 PMID:27803843 PMID:37582787 NCBI chr11:83,175,956...83,187,415
Ensembl chr11:83,175,963...83,187,348 		JBrowse link
G Six6os1 Six6 opposite strand transcript 1 ISO ClinVar Annotator: match by term: Spermatogenic failure 52 OMIM
ClinVar		 PMID:33508233 NCBI chr 6:91,579,185...91,615,183
Ensembl chr 6:91,579,325...91,615,148 		JBrowse link
spermatogenic failure 59 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 		JBrowse link
spermatogenic failure 60 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 		JBrowse link
spermatogenic failure 61 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Stag3 STAG3 cohesin complex component ISO ClinVar Annotator: match by term: Spermatogenic failure 61 OMIM
ClinVar		 PMID:25741868 PMID:31125047 PMID:31682730 NCBI chr12:17,284,677...17,314,936
Ensembl chr12:17,284,794...17,314,935 		JBrowse link
spermatogenic failure 62 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 		JBrowse link
X-linked congenital bilateral absence of vas deferens term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adgrg2 adhesion G protein-coupled receptor G2 ISO ClinVar Annotator: match by term: Vas deferens, congenital bilateral aplasia of, X-linked OMIM
ClinVar		 PMID:25741868 PMID:27476656 NCBI chr  X:34,297,402...34,422,590
Ensembl chr  X:34,297,402...34,422,609 		JBrowse link
X-linked spermatogenic failure 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tex11 testis expressed 11 ISO ClinVar Annotator: match by term: MALE INFERTILITY FROM DEFECT IN MEIOSIS | ClinVar Annotator: match by term: Spermatogenic failure, X-linked, 2 OMIM
ClinVar		 PMID:25741868 PMID:25970010 PMID:28492532 NCBI chr  X:65,932,904...66,196,525
Ensembl chr  X:65,932,988...66,196,187 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19106
    disease of anatomical entity 18445
      reproductive system disease 3179
        male reproductive system disease 2035
          male infertility 333
            azoospermia 70
              AZOOSPERMIA, OBSTRUCTIVE, WITH NEPHROLITHIASIS 1
              Incomplete Sertoli Cell-Only Syndrome 0
              X-linked spermatogenic failure 2 1
              Y Chromosome Infertility 0
              congenital bilateral absence of vas deferens + 4
              spermatogenic failure 14 1
              spermatogenic failure 15 1
              spermatogenic failure 22 2
              spermatogenic failure 23 1
              spermatogenic failure 3 35
              spermatogenic failure 4 6
              spermatogenic failure 48 1
              spermatogenic failure 50 1
              spermatogenic failure 52 2
              spermatogenic failure 59 1
              spermatogenic failure 60 1
              spermatogenic failure 61 1
              spermatogenic failure 62 1
Path 2
Term Annotations click to browse term
  disease 19106
    disease of anatomical entity 18445
      Urogenital Diseases 5375
        Female Urogenital Diseases and Pregnancy Complications 2655
          Female Urogenital Diseases 2179
            female reproductive system disease 2176
              infertility 425
                male infertility 333
                  azoospermia 70
                    AZOOSPERMIA, OBSTRUCTIVE, WITH NEPHROLITHIASIS 1
                    Incomplete Sertoli Cell-Only Syndrome 0
                    X-linked spermatogenic failure 2 1
                    Y Chromosome Infertility 0
                    congenital bilateral absence of vas deferens + 4
                    spermatogenic failure 14 1
                    spermatogenic failure 15 1
                    spermatogenic failure 22 2
                    spermatogenic failure 23 1
                    spermatogenic failure 3 35
                    spermatogenic failure 4 6
                    spermatogenic failure 48 1
                    spermatogenic failure 50 1
                    spermatogenic failure 52 2
                    spermatogenic failure 59 1
                    spermatogenic failure 60 1
                    spermatogenic failure 61 1
                    spermatogenic failure 62 1
paths to the root