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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 57
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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: OMIM: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 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:53,609,113...53,806,778
Ensembl chr  X:53,609,176...53,800,677 		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 chr18:28,859,140...28,910,927
Ensembl chr18:28,859,112...28,910,934 		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:61,584,028...61,872,341
Ensembl chr  X:61,584,848...61,872,287 		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 7:51,651,179...51,679,781
Ensembl chr 7:51,652,542...51,679,775 		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 chr14:28,206,152...28,242,436
Ensembl chr14:28,211,579...28,242,435 		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 1:220,841,485...220,953,442
Ensembl chr 1:220,841,488...220,953,442 		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:84,995,241...85,007,557 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 1:175,333,965...175,402,065
Ensembl chr 1:175,334,141...175,400,685 		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 chr14:112,808,215...112,814,225
Ensembl chr14:112,808,162...112,814,248 		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 chr14:14,858,470...14,938,156
Ensembl chr14:14,884,662...14,939,941 		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 chr15:30,312,528...30,580,272
Ensembl chr15:30,313,817...30,579,306 		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 chr 6:106,545,882...106,693,711
Ensembl chr 6:106,419,943...106,691,625 		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:46,281,958...46,444,315
Ensembl chr  X:46,281,967...46,444,228 		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 chr 8:30,653,434...30,696,123
Ensembl chr 8:30,653,572...30,691,349 		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 1:119,804,992...119,842,343
Ensembl chr 1:119,805,006...119,859,434 		JBrowse link
G LOC100154405 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:104,936,448...104,941,473
Ensembl chr  X:104,937,348...104,938,481 		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 chr14:50,576,413...50,590,397
Ensembl chr14:50,576,624...50,590,397 		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 3:68,411,968...68,494,666
Ensembl chr 3:68,417,915...68,494,421 		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 1:164,381,892...164,469,313
Ensembl chr 1:164,381,845...164,471,226 		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 4:67,850,585...67,892,438
Ensembl chr 4:67,847,817...67,895,867 		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 chr13:79,137,489...79,211,139
Ensembl chr13:79,139,764...79,211,135 		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 chr12:43,487,098...43,754,205
Ensembl chr12:43,489,813...43,753,969 		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 1:265,284,491...265,311,547
Ensembl chr 1:265,284,493...265,311,417 		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
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 chr 1:186,028,575...186,039,026
Ensembl chr 1:186,028,579...186,038,229 		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 1:7,560,084...7,580,062
Ensembl chr 1:7,559,745...7,579,197 		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 chr13:53,169,040...53,184,695
Ensembl chr13:53,169,524...53,185,171 		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 chr17:14,243,738...14,257,346
Ensembl chr17:14,242,515...14,257,307 		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 chr14:39,202,165...39,292,041
Ensembl chr14:39,202,169...39,292,003 		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 chr13:32,579,780...32,612,716
Ensembl chr13:32,579,983...32,612,710 		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 chr 1:44,409,877...44,535,784
Ensembl chr 1:44,410,351...44,534,874 		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 9:95,934,937...96,387,950
Ensembl chr 9:96,181,770...96,387,950 		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 6:103,809,732...103,986,057
Ensembl chr 6:103,808,066...103,965,335 		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 3:101,209,568...101,366,057
Ensembl chr 3:101,209,641...101,362,723 		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 6:88,323,119...88,349,194
Ensembl chr 6:88,323,080...88,349,963 		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 chr17:59,875,992...59,962,314
Ensembl chr17:59,875,993...59,955,209 		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 1:114,682,299...115,056,363
Ensembl chr 1:114,682,303...115,056,262 		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 chr12:34,815,472...34,975,901
Ensembl chr12:34,815,476...34,912,766 		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 2:28,411,467...28,456,007
Ensembl chr 2:28,411,803...28,455,997 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15278
    disease of anatomical entity 14926
      reproductive system disease 2901
        male reproductive system disease 1917
          male infertility 295
            spermatogenic failure 168
              spermatogenic failure 57 39
Path 2
Term Annotations click to browse term
  disease 15278
    disease of anatomical entity 14926
      Urogenital Diseases 4711
        Female Urogenital Diseases and Pregnancy Complications 2362
          Female Urogenital Diseases 1935
            female reproductive system disease 1932
              infertility 365
                male infertility 295
                  spermatogenic failure 168
                    spermatogenic failure 57 39
paths to the root