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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
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Accession:DOID:0111910 term browser browse the term
Definition:A male infertility characterized by dirsuption of the process of sperm development from diploid cells into mature haploid spermatozoa. (DO)
Synonyms:exact_synonym: SPGF
 xref: OMIM:PS258150
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
spermatogenic failure term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aurkc aurora kinase C ISO ClinVar Annotator: match by term: Spermatogenic Failure ClinVar NCBI chr 1:69,958,452...69,964,546
Ensembl chr 1:69,958,452...69,963,592
JBrowse link
G Chpt1 choline phosphotransferase 1 ISO ClinVar Annotator: match by term: Spermatogenic Failure ClinVar NCBI chr 7:29,019,518...29,070,928
Ensembl chr 7:29,043,916...29,070,928
JBrowse link
G Sohlh1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 ISO ClinVar Annotator: match by term: Spermatogenic Failure ClinVar PMID:20506135, PMID:28492532, PMID:28718531 NCBI chr 3:3,290,766...3,295,226
Ensembl chr 3:3,291,084...3,295,101
JBrowse link
G Spata16 spermatogenesis associated 16 ISO ClinVar Annotator: match by term: Spermatogenic Failure ClinVar NCBI chr 2:112,281,326...112,659,911
Ensembl chr 2:112,281,376...112,659,927
JBrowse link
G Sycp3 synaptonemal complex protein 3 ISO ClinVar Annotator: match by term: Spermatogenic Failure ClinVar NCBI chr 7:29,029,887...29,044,344
Ensembl chr 7:29,029,263...29,044,251
JBrowse link
Morbid Obesity and Spermatogenic Failure term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cep19 centrosomal protein 19 ISO ClinVar Annotator: match by term: Morbid obesity and spermatogenic failure OMIM
ClinVar
PMID:24268657, PMID:28492532 NCBI chr11:71,921,713...71,938,335
Ensembl chr11:71,921,716...71,938,165
JBrowse link
spermatogenic failure 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ank2 ankyrin 2 ISO ClinVar Annotator: match by term: Oligosynaptic infertility ClinVar PMID:228900, PMID:258150 NCBI chr 2:231,224,643...231,522,655
Ensembl chr 2:231,226,949...231,648,122
JBrowse link
G Nr5a1 nuclear receptor subfamily 5, group A, member 1 ISO ClinVar Annotator: match by term: Oligosynaptic infertility ClinVar PMID:17694559, PMID:19269353, PMID:22028768, PMID:22474171, PMID:22549935, PMID:22907560, PMID:23154282, PMID:24591553, PMID:25122490, PMID:25383892, PMID:25741868, PMID:27169744, PMID:27899157, PMID:28032338, PMID:28326187, PMID:28492532, PMID:29935645, PMID:30311386, PMID:30425642 NCBI chr 3:22,998,900...23,020,441
Ensembl chr 3:22,999,616...23,020,441
JBrowse link
G Pdha2 pyruvate dehydrogenase E1 subunit alpha 2 ISO ClinVar Annotator: match by term: Oligosynaptic infertility ClinVar NCBI chr 2:246,736,449...246,737,997
Ensembl chr 2:246,736,459...246,737,997
JBrowse link
G Sycp2 synaptonemal complex protein 2 ISO ClinVar Annotator: match by term: Oligosynaptic infertility OMIM
ClinVar
PMID:25741868, PMID:31866047 NCBI chr 3:173,884,559...173,948,304
Ensembl chr 3:173,884,287...173,947,018
JBrowse link
G Tex15 testis expressed 15, meiosis and synapsis associated ISO ClinVar Annotator: match by term: Oligosynaptic infertility ClinVar PMID:26199321 NCBI chr16:62,313,284...62,373,288
Ensembl chr16:62,313,263...62,373,253
JBrowse link
spermatogenic failure 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Septin12 septin 12 ISO ClinVar Annotator: match by OMIM:614822 OMIM
ClinVar
PMID:22275165, PMID:22479503 NCBI chr10:10,774,702...10,784,276
Ensembl chr10:10,774,639...10,784,277
JBrowse link
spermatogenic failure 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Klhl10 kelch-like family member 10 ISO ClinVar Annotator: match by term: Spermatogenic failure 11
ClinVar Annotator: match by OMIM:615081
OMIM
ClinVar
PMID:17047026, PMID:28492532 NCBI chr10:88,356,652...88,372,929
Ensembl chr10:88,356,615...88,372,899
JBrowse link
spermatogenic failure 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nanos1 nanos C2HC-type zinc finger 1 ISO OMIM NCBI chr 1:282,134,676...282,140,370
Ensembl chr 1:282,134,981...282,135,772
JBrowse link
spermatogenic failure 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Taf4b TATA-box binding protein associated factor 4b ISO ClinVar Annotator: match by OMIM:615841 OMIM
ClinVar
PMID:24431330 NCBI chr18:6,206,939...6,338,794
Ensembl chr18:6,207,280...6,318,219
JBrowse link
spermatogenic failure 16 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sun5 Sad1 and UNC84 domain containing 5 ISO ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 16 ClinVar
OMIM
PMID:27640305 NCBI chr 3:149,336,136...149,356,191
Ensembl chr 3:149,336,238...149,356,192
JBrowse link
spermatogenic failure 17 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pik3c2g phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma ISO ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 17 ClinVar PMID:26721930 NCBI chr 4:173,732,196...174,102,502
Ensembl chr 4:173,732,248...174,102,496
JBrowse link
G Plcz1 phospholipase C, zeta 1 ISO ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 17 ClinVar
OMIM
PMID:26721930 NCBI chr 4:174,125,072...174,181,524
Ensembl chr 4:174,125,178...174,180,729
JBrowse link
spermatogenic failure 18 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cfap251 cilia and flagella associated protein 251 ISO ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 18 ClinVar PMID:30122540 NCBI chr12:38,708,915...38,781,598
Ensembl chr12:38,709,595...38,782,010
JBrowse link
G Dnah1 dynein, axonemal, heavy chain 1 ISO ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 18 ClinVar
OMIM
PMID:24360805, PMID:25741868, PMID:27573432, PMID:27798045, PMID:28492532, PMID:28577616 NCBI chr16:7,345,131...7,407,009
Ensembl chr16:7,345,978...7,408,265
JBrowse link
spermatogenic failure 19 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cfap43 cilia and flagella associated protein 43 ISO ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 19 ClinVar
OMIM
PMID:28552195, PMID:29277146, PMID:29449551 NCBI chr 1:267,511,359...267,598,642
Ensembl chr 1:267,511,523...267,598,639
JBrowse link
spermatogenic failure 20 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cfap44 cilia and flagella associated protein 44 ISO ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 20 ClinVar
OMIM
PMID:28552195, PMID:29277146, PMID:29449551 NCBI chr11:61,160,793...61,237,056
Ensembl chr11:61,162,628...61,234,944
JBrowse link
spermatogenic failure 21 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Brdt bromodomain testis associated ISO ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 21 ClinVar
OMIM
PMID:28199965 NCBI chr14:3,437,876...3,462,613
Ensembl chr14:3,405,995...3,462,629
JBrowse link
spermatogenic failure 24 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cfap69 cilia and flagella associated protein 69 ISO ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 24 ClinVar
OMIM
PMID:29606301, PMID:30415212 NCBI chr 4:25,538,513...25,611,470
Ensembl chr 4:25,538,497...25,609,652
JBrowse link
spermatogenic failure 25 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tex15 testis expressed 15, meiosis and synapsis associated ISO ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 25 ClinVar
OMIM
PMID:26199321, PMID:28355598 NCBI chr16:62,313,284...62,373,288
Ensembl chr16:62,313,263...62,373,253
JBrowse link
spermatogenic failure 26 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tsga10 testis specific 10 ISO ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 26 ClinVar
OMIM
PMID:28905369 NCBI chr 9:44,351,655...44,456,576
Ensembl chr 9:44,351,951...44,456,554
JBrowse link
spermatogenic failure 27 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ak7 adenylate kinase 7 ISO ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 27 ClinVar
OMIM
PMID:25741868, PMID:29365104 NCBI chr 6:129,538,648...129,606,960
Ensembl chr 6:129,538,982...129,606,932
JBrowse link
spermatogenic failure 28 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fancm FA complementation group M ISO ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 28 ClinVar
OMIM
PMID:17289582, PMID:18174376, PMID:18414213, PMID:19379763, PMID:19737859, PMID:23932590, PMID:24003026, PMID:25288723, PMID:25741868, PMID:26130695, PMID:26296701, PMID:28492532, PMID:28702895, PMID:28837162, PMID:28881617, PMID:29231814, PMID:29351780, PMID:30075111, PMID:30158692, PMID:30426508, PMID:31700994, PMID:32566746 NCBI chr 6:86,823,195...86,877,067
Ensembl chr 6:86,823,684...86,876,633
JBrowse link
spermatogenic failure 29 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Spink2 serine peptidase inhibitor, Kazal type 2 ISO ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 29 ClinVar
OMIM
PMID:28554943 NCBI chr14:33,247,278...33,253,913
Ensembl chr14:33,247,274...33,253,913
JBrowse link
spermatogenic failure 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dmrt1 doublesex and mab-3 related transcription factor 1 ISO ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar PMID:24934491 NCBI chr 1:243,477,403...243,582,629
Ensembl chr 1:243,477,493...243,582,629
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 NCBI chr 3:149,131,541...149,170,061
Ensembl chr 3:149,131,785...149,208,786
JBrowse link
G 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
JBrowse link
G Klhl10 kelch-like family member 10 ISO ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar PMID:28492532 NCBI chr10:88,356,652...88,372,929
Ensembl chr10:88,356,615...88,372,899
JBrowse link
G M1ap meiosis 1 associated protein ISO ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar PMID:25741868 NCBI chr 4:113,772,716...113,864,171
Ensembl chr 4:113,782,206...113,863,224
JBrowse link
G Mon1b MON1 homolog B, secretory trafficking associated ISO ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar PMID:28492532 NCBI chr19:45,938,433...45,946,647
Ensembl chr19:45,938,915...45,945,741
JBrowse link
G 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
JBrowse link
G Rec8 REC8 meiotic recombination protein ISO ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar NCBI chr15:34,296,922...34,304,387
Ensembl chr15:34,296,922...34,304,552
JBrowse link
G 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
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 3:159,305,345...159,310,668
Ensembl chr 3:159,305,345...159,310,668
JBrowse link
G 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
JBrowse link
G Syce1l synaptonemal complex central element protein 1-like ISO ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar PMID:28492532 NCBI chr19:45,946,422...45,956,822
Ensembl chr19:45,946,236...45,956,844
JBrowse link
spermatogenic failure 30 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tdrd9 tudor domain containing 9 ISO OMIM NCBI chr 6:136,536,636...136,650,481
Ensembl chr 6:136,536,736...136,649,859
JBrowse link
spermatogenic failure 31 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyba cytochrome b-245 alpha chain ISO ClinVar Annotator: match by term: CYBA DEFICIENCY ClinVar PMID:3368442, PMID:9445163, PMID:10440830, PMID:19388116, PMID:25741868, PMID:30709874 NCBI chr19:55,249,634...55,257,824
Ensembl chr19:55,249,616...55,257,876
JBrowse link
G Pmfbp1 polyamine modulated factor 1 binding protein 1 ISO ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 31 ClinVar
OMIM
PMID:30032984, PMID:30298696 NCBI chr19:42,132,551...42,196,990
Ensembl chr19:42,132,527...42,180,981
JBrowse link
spermatogenic failure 32 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sohlh1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 ISO ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 32 OMIM
ClinVar
PMID:20506135, PMID:28492532, PMID:28718531 NCBI chr 3:3,290,766...3,295,226
Ensembl chr 3:3,291,084...3,295,101
JBrowse link
spermatogenic failure 33 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cfap251 cilia and flagella associated protein 251 ISO ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 33 ClinVar
OMIM
PMID:30122540, PMID:30122541 NCBI chr12:38,708,915...38,781,598
Ensembl chr12:38,709,595...38,782,010
JBrowse link
G Dnah1 dynein, axonemal, heavy chain 1 ISO ClinVar Annotator: match by term: Non-syndromic male infertility due to sperm motility disorder ClinVar PMID:24033266 NCBI chr16:7,345,131...7,407,009
Ensembl chr16:7,345,978...7,408,265
JBrowse link
spermatogenic failure 34 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fsip2 fibrous sheath-interacting protein 2 ISO ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 34 ClinVar
OMIM
PMID:30137358 NCBI chr 3:70,285,181...70,356,568
Ensembl chr 3:70,285,219...70,356,568
JBrowse link
spermatogenic failure 35 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Qrich2 glutamine rich 2 ISO ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 35 OMIM
ClinVar
PMID:31110204, PMID:31292949 NCBI chr10:105,397,470...105,422,811
Ensembl chr10:105,399,814...105,412,627
JBrowse link
spermatogenic failure 36 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ppp2r3c protein phosphatase 2, regulatory subunit B'', gamma ISO ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 36 OMIM
ClinVar
PMID:30893644 NCBI chr 6:76,056,585...76,079,755
Ensembl chr 6:76,056,499...76,079,664
JBrowse link
spermatogenic failure 37 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ttc21a tetratricopeptide repeat domain 21A ISO ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 37 OMIM
ClinVar
PMID:30929735 NCBI chr 8:128,622,414...128,657,199
Ensembl chr 8:128,622,428...128,657,955
JBrowse link
spermatogenic failure 38 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Armc2 armadillo repeat containing 2 ISO ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 38 ClinVar
OMIM
PMID:30686508 NCBI chr20:46,766,467...46,872,009
Ensembl chr20:46,765,881...46,871,946
JBrowse link
G Cfap91 cilia and flagella associated protein 91 ISO ClinVar Annotator: match by term: Male infertility with teratozoospermia due to single gene mutation ClinVar NCBI chr11:64,975,499...65,019,169
Ensembl chr11:64,975,594...65,018,108
JBrowse link
spermatogenic failure 39 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnah17 dynein, axonemal, heavy chain 17 ISO ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 39 OMIM
ClinVar
PMID:25741868, PMID:31178125 NCBI chr10:107,028,115...107,161,288
Ensembl chr10:107,029,466...107,158,997
JBrowse link
spermatogenic failure 40 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cfap65 cilia and flagella associated protein 65 ISO ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 40 ClinVar
OMIM
PMID:28552195, PMID:31413122, PMID:31501240, PMID:31571197 NCBI chr 9:82,163,016...82,197,909
Ensembl chr 9:82,163,075...82,195,722
JBrowse link
spermatogenic failure 41 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cfap70 cilia and flagella associated protein 70 ISO ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 41 ClinVar
OMIM
PMID:31621862 NCBI chr15:4,285,049...4,350,707
Ensembl chr15:4,285,052...4,350,714
JBrowse link
spermatogenic failure 42 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ttc29 tetratricopeptide repeat domain 29 ISO ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 42 ClinVar
OMIM
PMID:31735292, PMID:31735294 NCBI chr19:33,205,576...33,424,955
Ensembl chr19:33,206,026...33,424,972
JBrowse link
spermatogenic failure 43 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Spef2 sperm flagellar 2 ISO ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 43 ClinVar
OMIM
PMID:31048344, PMID:31151990, PMID:31278745 NCBI chr 2:58,901,937...59,084,194
Ensembl chr 2:58,901,939...59,181,863
JBrowse link
spermatogenic failure 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aurkc aurora kinase C ISO ClinVar Annotator: match by OMIM:243060
ClinVar Annotator: match by term: Infertility associated with multi-tailed spermatozoa and excessive DNA
ClinVar
OMIM
PMID:17435757, PMID:19147683, PMID:21733974, PMID:24033266, PMID:28492532 NCBI chr 1:69,958,452...69,964,546
Ensembl chr 1:69,958,452...69,963,592
JBrowse link
spermatogenic failure 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Spata16 spermatogenesis associated 16 ISO OMIM NCBI chr 2:112,281,326...112,659,911
Ensembl chr 2:112,281,376...112,659,927
JBrowse link
spermatogenic failure 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Catsper1 cation channel, sperm associated 1 ISO ClinVar Annotator: match by term: Spermatogenic failure 7
ClinVar Annotator: match by OMIM:612997
OMIM
ClinVar
PMID:19344877, PMID:21255775, PMID:24442342, PMID:28492532 NCBI chr 1:220,715,000...220,724,235
Ensembl chr 1:220,714,995...220,719,939
JBrowse link
G Catsper2 cation channel, sperm associated 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:113,357,361...113,379,498
Ensembl chr 3:113,357,365...113,376,751
JBrowse link
G Strc stereocilin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 7
CTD
ClinVar
PMID:24033266, PMID:25741868 NCBI chr 3:113,324,403...113,343,513
Ensembl chr 3:113,324,698...113,342,675
JBrowse link
spermatogenic failure 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nr5a1 nuclear receptor subfamily 5, group A, member 1 ISO ClinVar Annotator: match by OMIM:613957 OMIM
ClinVar
PMID:20887963 NCBI chr 3:22,998,900...23,020,441
Ensembl chr 3:22,999,616...23,020,441
JBrowse link
spermatogenic failure 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dpy19l2 dpy-19 like 2 ISO ClinVar Annotator: match by OMIM:613958 OMIM
ClinVar
PMID:15533374, PMID:21397063, PMID:21397064, PMID:22653751 NCBI chr 8:25,710,492...25,829,589
Ensembl chr 8:25,710,472...25,829,569
JBrowse link
Y-linked spermatogenic failure 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kdm5d lysine demethylase 5D ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr  Y:501,058...589,267
Ensembl chr  Y:505,996...589,267
JBrowse link
G Rps4y2 ribosomal protein S4, Y-linked 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:182,745,448...182,746,381
Ensembl chr 4:182,745,448...182,746,381
JBrowse link
G Usp9y ubiquitin specific peptidase 9, Y-linked ISO ClinVar Annotator: match by OMIM:415000
ClinVar Annotator: match by term: Hypospermatogenesis, nonobstructive, Y-linked
ClinVar
OMIM
PMID:9384609, PMID:10402373, PMID:10507722, PMID:10581029, PMID:10767340, PMID:19246359 NCBI chr  Y:1,260,512...1,403,417
Ensembl chr  Y:1,258,794...1,403,422
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      reproductive system disease 2560
        male reproductive system disease 1757
          male infertility 171
            spermatogenic failure 60
              Morbid Obesity and Spermatogenic Failure 1
              Y-linked spermatogenic failure 2 3
              spermatogenic failure 1 5
              spermatogenic failure 10 1
              spermatogenic failure 11 1
              spermatogenic failure 12 1
              spermatogenic failure 13 1
              spermatogenic failure 16 1
              spermatogenic failure 17 2
              spermatogenic failure 18 2
              spermatogenic failure 19 1
              spermatogenic failure 2 0
              spermatogenic failure 20 1
              spermatogenic failure 21 1
              spermatogenic failure 24 1
              spermatogenic failure 25 1
              spermatogenic failure 26 1
              spermatogenic failure 27 1
              spermatogenic failure 28 1
              spermatogenic failure 29 1
              spermatogenic failure 3 12
              spermatogenic failure 30 1
              spermatogenic failure 31 2
              spermatogenic failure 32 1
              spermatogenic failure 33 2
              spermatogenic failure 34 1
              spermatogenic failure 35 1
              spermatogenic failure 36 1
              spermatogenic failure 37 1
              spermatogenic failure 38 2
              spermatogenic failure 39 1
              spermatogenic failure 40 1
              spermatogenic failure 41 1
              spermatogenic failure 42 1
              spermatogenic failure 43 1
              spermatogenic failure 5 1
              spermatogenic failure 6 1
              spermatogenic failure 7 3
              spermatogenic failure 8 1
              spermatogenic failure 9 1
Path 2
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      Urogenital Diseases 4142
        Female Urogenital Diseases and Pregnancy Complications 1893
          Female Urogenital Diseases 1587
            female reproductive system disease 1583
              infertility 233
                male infertility 171
                  spermatogenic failure 60
                    Morbid Obesity and Spermatogenic Failure 1
                    Y-linked spermatogenic failure 2 3
                    spermatogenic failure 1 5
                    spermatogenic failure 10 1
                    spermatogenic failure 11 1
                    spermatogenic failure 12 1
                    spermatogenic failure 13 1
                    spermatogenic failure 16 1
                    spermatogenic failure 17 2
                    spermatogenic failure 18 2
                    spermatogenic failure 19 1
                    spermatogenic failure 2 0
                    spermatogenic failure 20 1
                    spermatogenic failure 21 1
                    spermatogenic failure 24 1
                    spermatogenic failure 25 1
                    spermatogenic failure 26 1
                    spermatogenic failure 27 1
                    spermatogenic failure 28 1
                    spermatogenic failure 29 1
                    spermatogenic failure 3 12
                    spermatogenic failure 30 1
                    spermatogenic failure 31 2
                    spermatogenic failure 32 1
                    spermatogenic failure 33 2
                    spermatogenic failure 34 1
                    spermatogenic failure 35 1
                    spermatogenic failure 36 1
                    spermatogenic failure 37 1
                    spermatogenic failure 38 2
                    spermatogenic failure 39 1
                    spermatogenic failure 40 1
                    spermatogenic failure 41 1
                    spermatogenic failure 42 1
                    spermatogenic failure 43 1
                    spermatogenic failure 5 1
                    spermatogenic failure 6 1
                    spermatogenic failure 7 3
                    spermatogenic failure 8 1
                    spermatogenic failure 9 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.