Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)

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 57
go back to main search page
Accession:DOID:0112338 term browser browse the term
Definition:A spermatogenic failure characterized by male infertility due to error-prone meiosis of germ cells and spermatogenic arrest at the late pachytene stage that has_material_basis_in homozygous or compound heterozygous mutation in the PNLDC1 gene on chromosome 6q25.3. (DO)
Synonyms:exact_synonym: SPGF57
 broad_synonym: MALE INFERTILITY WITH AZOOSPERMIA OR OLIGOZOOSPERMIA DUE TO SINGLE GENE MUTATION
 primary_id: MIM:619528
 alt_id: DOID:9007053


show annotations for term's descendants           Sort by:
spermatogenic failure 57 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actrt1 actin-related protein T1 ISO ClinVar Annotator: match by term: Male infertility with azoospermia or oligozoospermia due to single gene mutation ClinVar PMID:25741868 NCBI chr  X:125,584,102...125,585,455
Ensembl chr  X:125,584,065...125,585,457 		JBrowse link
G Ar androgen receptor ISO ClinVar Annotator: match by term: Male infertility with azoospermia or oligozoospermia due to single gene mutation ClinVar PMID:25741868 PMID:28492532 PMID:36572623 NCBI chr  X:63,104,771...63,273,934
Ensembl chr  X:63,104,771...63,273,925 		JBrowse link
G Asz1 ankyrin repeat, SAM and basic leucine zipper domain containing 1 ISO ClinVar Annotator: match by term: Male infertility with azoospermia or oligozoospermia due to single gene mutation ClinVar PMID:25741868 NCBI chr 4:46,400,485...46,456,085
Ensembl chr 4:46,400,485...46,456,085 		JBrowse link
G Atrx ATRX, chromatin remodeler ISO ClinVar Annotator: match by term: Male infertility with azoospermia or oligozoospermia due to single gene mutation ClinVar PMID:25741868 NCBI chr  X:70,850,981...70,997,330
Ensembl chr  X:70,850,981...70,997,330 		JBrowse link
G Bnc1 basonuclin zinc finger protein 1 ISO ClinVar Annotator: match by term: Male infertility with azoospermia or oligozoospermia due to single gene mutation ClinVar PMID:25741868 NCBI chr 1:135,917,676...135,943,333
Ensembl chr 1:135,917,687...135,943,333 		JBrowse link
G Dcaf12l1 DDB1 and CUL4 associated factor 12-like 1 ISO ClinVar Annotator: match by term: Male infertility with azoospermia or oligozoospermia due to single gene mutation ClinVar PMID:25741868 NCBI chr  X:123,695,286...123,698,905
Ensembl chr  X:123,695,286...123,698,905 		JBrowse link
G Dhx37 DEAH-box helicase 37 ISO ClinVar Annotator: match by term: Male infertility with azoospermia or oligozoospermia due to single gene mutation ClinVar PMID:25741868 NCBI chr12:31,194,782...31,214,890
Ensembl chr12:31,194,859...31,216,802 		JBrowse link
G Dmrt1 doublesex and mab-3 related transcription factor 1 ISO ClinVar Annotator: match by term: Male infertility with azoospermia or oligozoospermia due to single gene mutation ClinVar PMID:25741868 NCBI chr 1:223,142,859...223,241,333
Ensembl chr 1:223,142,859...223,241,333 		JBrowse link
G Esx1 ESX homeobox 1 ISO ClinVar Annotator: match by term: Male infertility with azoospermia or oligozoospermia due to single gene mutation ClinVar PMID:25741868 NCBI chr  X:100,449,298...100,454,452 JBrowse link
G Fancm FA complementation group M ISO ClinVar Annotator: match by term: Male infertility with azoospermia or oligozoospermia due to single gene mutation ClinVar PMID:18414213 PMID:25741868 PMID:26296701 PMID:28492532 PMID:28881617 More... NCBI chr 6:83,126,903...83,180,455
Ensembl chr 6:83,127,093...83,180,028 		JBrowse link
G Fgf8 fibroblast growth factor 8 ISO ClinVar Annotator: match by term: Male infertility with azoospermia or oligozoospermia due to single gene mutation ClinVar PMID:25741868 NCBI chr 1:244,584,477...244,590,578
Ensembl chr 1:244,584,652...244,590,359 		JBrowse link
G Gata4 GATA binding protein 4 ISO ClinVar Annotator: match by term: Male infertility with azoospermia or oligozoospermia due to single gene mutation ClinVar PMID:17643447 PMID:18672102 PMID:20347099 PMID:20874241 PMID:21110066 More... NCBI chr15:37,459,601...37,531,291
Ensembl chr15:37,459,601...37,505,636 		JBrowse link
G Gli2 GLI family zinc finger 2 ISO ClinVar Annotator: match by term: Male infertility with azoospermia or oligozoospermia due to single gene mutation ClinVar PMID:25741868 PMID:28492532 NCBI chr13:29,946,882...30,163,589
Ensembl chr13:29,946,809...30,163,574 		JBrowse link
G Greb1l GREB1 like retinoic acid receptor coactivator ISO ClinVar Annotator: match by term: Male infertility with azoospermia or oligozoospermia due to single gene mutation ClinVar PMID:25741868 NCBI chr18:1,392,330...1,629,483
Ensembl chr18:1,392,725...1,628,067 		JBrowse link
G Huwe1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: Male infertility with azoospermia or oligozoospermia due to single gene mutation ClinVar PMID:25741868 NCBI chr  X:20,873,795...21,001,378
Ensembl chr  X:20,873,795...21,001,262 		JBrowse link
G Klb klotho beta ISO ClinVar Annotator: match by term: Male infertility with azoospermia or oligozoospermia due to single gene mutation ClinVar PMID:25741868 NCBI chr14:42,899,050...42,950,788
Ensembl chr14:42,899,510...42,950,799 		JBrowse link
G Leo1 LEO1 homolog, Paf1/RNA polymerase II complex component ISO ClinVar Annotator: match by term: Male infertility with azoospermia or oligozoospermia due to single gene mutation ClinVar PMID:25741868 NCBI chr 8:76,199,547...76,223,983
Ensembl chr 8:76,199,099...76,223,983 		JBrowse link
G Lztr1 leucine zipper like post translational regulator 1 ISO ClinVar Annotator: match by term: Male infertility with azoospermia or oligozoospermia due to single gene mutation ClinVar PMID:9536098 PMID:16356934 PMID:17576681 PMID:25480913 PMID:25741868 More... NCBI chr11:83,487,717...83,503,896
Ensembl chr11:83,487,717...83,503,633 		JBrowse link
G M1ap meiosis 1 associated protein ISO ClinVar Annotator: match by term: Male infertility with azoospermia or oligozoospermia due to single gene mutation ClinVar PMID:25741868 PMID:32673564 NCBI chr 4:115,445,910...115,536,745
Ensembl chr 4:115,455,397...115,536,487 		JBrowse link
G Map2k1 mitogen activated protein kinase kinase 1 ISO ClinVar Annotator: match by term: Male infertility with azoospermia or oligozoospermia due to single gene mutation ClinVar PMID:29493581 NCBI chr 8:64,683,449...64,754,900
Ensembl chr 8:64,683,449...64,755,147 		JBrowse link
G Mcmdc2 minichromosome maintenance domain containing 2 ISO ClinVar Annotator: match by term: Male infertility with azoospermia or oligozoospermia due to single gene mutation ClinVar PMID:25741868 NCBI chr 5:9,291,967...9,337,526
Ensembl chr 5:9,298,101...9,338,300 		JBrowse link
G Mras muscle RAS oncogene homolog ISO ClinVar Annotator: match by term: Male infertility with azoospermia or oligozoospermia due to single gene mutation ClinVar PMID:29493581 NCBI chr 8:99,944,036...100,006,771
Ensembl chr 8:99,944,036...99,996,408 		JBrowse link
G Nf1 neurofibromin 1 ISO ClinVar Annotator: match by term: Male infertility with azoospermia or oligozoospermia due to single gene mutation ClinVar PMID:29493581 NCBI chr10:64,306,027...64,539,112
Ensembl chr10:64,306,301...64,536,658 		JBrowse link
G Nr5a1 nuclear receptor subfamily 5, group A, member 1 ISO ClinVar Annotator: match by term: Male infertility with azoospermia or oligozoospermia due to single gene mutation ClinVar PMID:10369247 PMID:11038323 PMID:12907682 PMID:19246354 PMID:20887963 More... NCBI chr 3:22,464,786...22,486,328
Ensembl chr 3:22,465,502...22,486,328 		JBrowse link
G Nsmf NMDA receptor synaptonuclear signaling and neuronal migration factor ISO ClinVar Annotator: match by term: Male infertility with azoospermia or oligozoospermia due to single gene mutation ClinVar PMID:25741868 NCBI chr 3:7,861,846...7,870,615
Ensembl chr 3:7,861,872...7,870,614 		JBrowse link
G Otx2 orthodenticle homeobox 2 ISO ClinVar Annotator: match by term: Male infertility with azoospermia or oligozoospermia due to single gene mutation ClinVar PMID:22715480 PMID:25741868 PMID:28492532 PMID:33296094 NCBI chr15:21,942,233...21,953,034
Ensembl chr15:21,943,191...21,953,416 		JBrowse link
G Pnldc1 PARN like ribonuclease domain containing exonuclease 1 ISO ClinVar Annotator: match by term: Spermatogenic failure 57 OMIM
ClinVar		 PMID:25741868 PMID:34347949 PMID:35476664 NCBI chr 1:47,843,224...47,861,675
Ensembl chr 1:47,843,224...47,861,674 		JBrowse link
G Prok2 prokineticin 2 ISO ClinVar Annotator: match by term: Male infertility with azoospermia or oligozoospermia due to single gene mutation ClinVar PMID:17959774 PMID:18285834 PMID:18559922 PMID:18682503 PMID:23643382 More... NCBI chr 4:132,346,681...132,361,754
Ensembl chr 4:132,347,103...132,361,385 		JBrowse link
G Prokr2 prokineticin receptor 2 ISO ClinVar Annotator: match by term: Male infertility with azoospermia or oligozoospermia due to single gene mutation ClinVar PMID:2403109 PMID:17054399 PMID:18559922 PMID:18682503 PMID:18826963 More... NCBI chr 3:119,624,738...119,639,442
Ensembl chr 3:119,627,601...119,635,718 		JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO ClinVar Annotator: match by term: Male infertility with azoospermia or oligozoospermia due to single gene mutation ClinVar PMID:4746100 PMID:9751050 PMID:11704759 PMID:11992261 PMID:12161469 More... NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925 		JBrowse link
G Rbm5 RNA binding motif protein 5 ISO ClinVar Annotator: match by term: Male infertility with azoospermia or oligozoospermia due to single gene mutation ClinVar PMID:25741868 NCBI chr 8:108,420,220...108,449,481
Ensembl chr 8:108,420,222...108,449,430 		JBrowse link
G Ros1 ROS proto-oncogene 1 , receptor tyrosine kinase ISO ClinVar Annotator: match by term: Male infertility with azoospermia or oligozoospermia due to single gene mutation ClinVar PMID:25741868 NCBI chr20:31,432,636...31,583,998
Ensembl chr20:31,432,637...31,583,865 		JBrowse link
G Sema3a semaphorin 3A ISO ClinVar Annotator: match by term: Male infertility with azoospermia or oligozoospermia due to single gene mutation ClinVar PMID:25741868 NCBI chr 4:21,282,398...21,754,834
Ensembl chr 4:21,287,982...21,494,432 		JBrowse link
G Smchd1 structural maintenance of chromosomes flexible hinge domain containing 1 ISO ClinVar Annotator: match by term: Male infertility with azoospermia or oligozoospermia due to single gene mutation ClinVar PMID:23143600 PMID:25741868 PMID:25782668 PMID:28492532 NCBI chr 9:111,243,445...111,387,272
Ensembl chr 9:111,247,702...111,349,665 		JBrowse link
G Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Male infertility with azoospermia or oligozoospermia due to single gene mutation ClinVar PMID:29493581 NCBI chr 6:14,533,870...14,613,348
Ensembl chr 6:14,533,360...14,611,107 		JBrowse link
G Spocd1 SPOC domain containing 1 ISO ClinVar Annotator: match by term: Male infertility with azoospermia or oligozoospermia due to single gene mutation ClinVar PMID:25741868 PMID:38359823 NCBI chr 5:142,288,822...142,297,113 JBrowse link
G Sycp2 synaptonemal complex protein 2 ISO ClinVar Annotator: match by term: Male infertility with azoospermia or oligozoospermia due to single gene mutation ClinVar PMID:25741868 NCBI chr 3:165,431,715...165,502,134
Ensembl chr 3:165,436,331...165,498,789 		JBrowse link
G Tcf12 transcription factor 12 ISO ClinVar Annotator: match by term: Male infertility with azoospermia or oligozoospermia due to single gene mutation ClinVar PMID:25741868 NCBI chr 8:72,490,447...72,799,265
Ensembl chr 8:72,492,567...72,799,201 		JBrowse link
G Tex14 testis expressed 14, intercellular bridge forming factor ISO ClinVar Annotator: match by term: Male infertility with azoospermia or oligozoospermia due to single gene mutation ClinVar PMID:25741868 PMID:28492532 NCBI chr10:72,231,766...72,356,938
Ensembl chr10:72,231,801...72,355,805 		JBrowse link
G Tubb3 tubulin, beta 3 class III ISO ClinVar Annotator: match by term: Male infertility with azoospermia or oligozoospermia due to single gene mutation ClinVar PMID:25741868 NCBI chr19:51,457,187...51,466,243
Ensembl chr19:51,457,184...51,466,243 		JBrowse link
G Wt1 WT1 transcription factor ISO ClinVar Annotator: match by term: Male infertility with azoospermia or oligozoospermia due to single gene mutation ClinVar PMID:25741868 NCBI chr 3:91,566,540...91,613,653
Ensembl chr 3:91,567,001...91,613,643 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19099
    disease of anatomical entity 18440
      reproductive system disease 3178
        male reproductive system disease 2035
          male infertility 333
            spermatogenic failure 181
              spermatogenic failure 57 41
Path 2
Term Annotations click to browse term
  disease 19099
    disease of anatomical entity 18440
      Urogenital Diseases 5375
        Female Urogenital Diseases and Pregnancy Complications 2652
          Female Urogenital Diseases 2178
            female reproductive system disease 2175
              infertility 425
                male infertility 333
                  spermatogenic failure 181
                    spermatogenic failure 57 41
paths to the root