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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:spermatogenic failure 3
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Accession:DOID:0070168 term browser browse the term
Definition:A male infertility characterized by autosomal dominant inheritance of nonobstructive asthenozoospermia that has_material_basis_in heterozygous mutation in the SLC26A8 gene on chromosome 6p21. (DO)
Synonyms:exact_synonym: SPGF3;   non-obstructive azoospermia;   nonobstructive azoospermia
 primary_id: MESH:C564665
 alt_id: OMIM:606766
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
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 NCBI chr  X:63,104,771...63,273,934
Ensembl chr  X:63,104,771...63,273,925
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 Dnmt3b DNA methyltransferase 3 beta ISO ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar PMID:10647011 PMID:11102980 PMID:11919202 PMID:15580563 PMID:25741868 More... NCBI chr 3:142,130,592...142,169,124
Ensembl chr 3:142,130,592...142,169,124
JBrowse link
G Foxp3 forkhead box P3 ISO ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar PMID:24258212 PMID:28492532 NCBI chr  X:14,908,494...14,924,994
Ensembl chr  X:14,908,494...14,923,838
JBrowse link
G Klhl10 kelch-like family member 10 ISO ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar PMID:25741868 PMID:28492532 PMID:31479588 NCBI chr10:85,376,442...85,392,720
Ensembl chr10:85,376,442...85,392,720
JBrowse link
G M1ap meiosis 1 associated protein ISO ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar PMID:25741868 PMID:32673564 NCBI chr 4:115,445,910...115,536,745
Ensembl chr 4:115,455,397...115,536,487
JBrowse link
G 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 chr19:41,617,201...41,625,347
Ensembl chr19:41,617,364...41,625,347
JBrowse link
G Msh4 mutS homolog 4 ISO ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar PMID:25741868 PMID:33448284 NCBI chr 2:242,785,392...242,844,609
Ensembl chr 2:242,792,661...242,843,487
JBrowse link
G Msh5 mutS homolog 5 ISO ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar PMID:25741868 NCBI chr20:3,773,867...3,793,337
Ensembl chr20:3,776,942...3,793,336
JBrowse link
G Npas2 neuronal PAS domain protein 2 ISO ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar PMID:25956372 NCBI chr 9:41,463,361...41,642,322
Ensembl chr 9:41,463,830...41,642,320
JBrowse link
G 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
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 ClinVar Annotator: match by OMIM:606766 OMIM
ClinVar
PMID:23582645 NCBI chr20:6,686,206...6,749,478
Ensembl chr20:6,697,723...6,749,478
JBrowse link
G 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
JBrowse link
G Srsf6 serine and arginine rich splicing factor 6 susceptibility ISO DNA:snp:intron:g.IVS2+305T>C (rs6103330) (human) RGD PMID:24661730 RGD:11039404 NCBI chr 3:151,589,546...151,594,869
Ensembl chr 3:151,589,535...151,594,860
JBrowse link
G Stag3 stromal antigen 3 ISO ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar PMID:25741868 NCBI chr12:17,284,677...17,314,936
Ensembl chr12:17,284,794...17,314,935
JBrowse link
G Syce1l synaptonemal complex central element protein 1-like ISO ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar PMID:25741868 PMID:28492532 PMID:31479588 NCBI chr19:41,625,074...41,635,541
Ensembl chr19:41,617,180...41,635,526
JBrowse link
G 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 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 NCBI chr10:46,953,311...46,969,800
Ensembl chr10:46,957,525...46,969,671
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      reproductive system disease 2756
        male reproductive system disease 1873
          male infertility 213
            azoospermia 55
              spermatogenic failure 3 31
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      Urogenital Diseases 4386
        Female Urogenital Diseases and Pregnancy Complications 2068
          Female Urogenital Diseases 1762
            female reproductive system disease 1758
              infertility 295
                male infertility 213
                  azoospermia 55
                    spermatogenic failure 3 31
paths to the root