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
Accession: DOID:0070168
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 .
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Dmrt1
doublesex and mab-3 related transcription factor 1
ISO
ClinVar Annotator: match by term: Non-obstructive azoospermia
ClinVar
PMID:24934491 PMID:25741868 PMID:31479588
NCBI chr 1:243,477,403...243,582,629
Ensembl chr 1:243,477,493...243,582,629
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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 PMID:31479588
NCBI chr 3:149,131,541...149,170,061
Ensembl chr 3:149,131,785...149,208,786
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Foxp3
forkhead box P3
ISO
ClinVar Annotator: match by term: Non-obstructive azoospermia
ClinVar
PMID:24258212 PMID:28492532
NCBI chr X:15,753,175...15,768,648
Ensembl chr X:15,753,175...15,768,522
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Klhl10
kelch-like family member 10
ISO
ClinVar Annotator: match by term: Non-obstructive azoospermia
ClinVar
PMID:25741868 PMID:28492532 PMID:31479588
NCBI chr10:88,356,652...88,372,929
Ensembl chr10:88,356,615...88,372,899
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M1ap
meiosis 1 associated protein
ISO
ClinVar Annotator: match by term: Non-obstructive azoospermia
ClinVar
PMID:25741868 PMID:32673564
NCBI chr 4:113,772,716...113,864,171
Ensembl chr 4:113,782,206...113,863,224
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Mon1b
MON1 homolog B, secretory trafficking associated
ISO
ClinVar Annotator: match by term: Non-obstructive azoospermia
ClinVar
PMID:25741868 PMID:28492532 PMID:31479588
NCBI chr19:45,938,433...45,946,647
Ensembl chr19:45,938,915...45,945,741
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Msh4
mutS homolog 4
ISO
ClinVar Annotator: match by term: Non-obstructive azoospermia
ClinVar
PMID:25741868
NCBI chr 2:260,057,708...260,108,897
Ensembl chr 2:260,057,855...260,108,897
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Npas2
neuronal PAS domain protein 2
ISO
ClinVar Annotator: match by term: Non-obstructive azoospermia
ClinVar
PMID:25956372
NCBI chr 9:45,901,262...46,081,880
Ensembl chr 9:45,901,741...46,081,880
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Rec8
REC8 meiotic recombination protein
ISO
ClinVar Annotator: match by term: Non-obstructive azoospermia
ClinVar
PMID:25741868 PMID:31479588
NCBI chr15:34,296,922...34,304,387
Ensembl chr15:34,296,922...34,304,552
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Slc26a8
solute carrier family 26 member 8
ISO
ClinVar Annotator: match by OMIM:606766
OMIM ClinVar
PMID:23582645
NCBI chr20:5,870,714...5,933,151
Ensembl chr20:5,881,462...5,931,648
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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 3:159,305,345...159,310,668
Ensembl chr 3:159,305,345...159,310,668
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Stag3
stromal antigen 3
ISO
ClinVar Annotator: match by term: Non-obstructive azoospermia
ClinVar
PMID:25741868
NCBI chr12:19,599,741...19,630,775
Ensembl chr12:19,599,834...19,630,780
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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 chr19:45,946,422...45,956,822
Ensembl chr19:45,946,236...45,956,844
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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 chr10:74,724,070...74,849,172
Ensembl chr10:74,724,549...74,849,194
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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 chr16:62,313,284...62,373,288
Ensembl chr16:62,313,263...62,373,253
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