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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:male infertility
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Accession:DOID:12336 term browser browse the term
Definition:The inability of the male to effect FERTILIZATION of an OVUM after a specified period of unprotected intercourse. Male sterility is permanent infertility.
Synonyms:exact_synonym: male sterility;   male sub-fertility;   male subfertility
 primary_id: MESH:D007248
 xref: ICD10CM:N46;   ICD9CM:606
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants           Sort by:
 
male infertility term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace angiotensin I converting enzyme ISO CTD Direct Evidence: marker/mechanism CTD PMID:8642790, PMID:12075344 NCBI chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822 		JBrowse link
G Actl7a actin-like 7a ISO RGD PMID:26957350 RGD:13831339 NCBI chr 5:73,494,582...73,498,012
Ensembl chr 5:73,496,027...73,497,609 		JBrowse link
G Adamts16 ADAM metallopeptidase with thrombospondin type 1 motif, 16 IMP RGD PMID:24983376 RGD:13434925 NCBI chr 1:35,067,268...35,200,530
Ensembl chr 1:35,067,490...35,198,939 		JBrowse link
G Adamts16em1Bj ADAM metallopeptidase with thrombospondin type 1 motif, 16; ZFN mutant1,Bj IMP RGD PMID:24983376 RGD:13434925
G Agfg1 ArfGAP with FG repeats 1 ISS MouseDO NCBI chr 9:88,607,508...88,663,486
Ensembl chr 9:88,607,508...88,662,224 		JBrowse link
G Ahr aryl hydrocarbon receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21613234 NCBI chr 6:54,963,990...55,001,806
Ensembl chr 6:54,963,990...55,001,464 		JBrowse link
G Akap4 A-kinase anchoring protein 4 ISO RGD PMID:12167408 RGD:632500 NCBI chr  X:16,296,027...16,306,078
Ensembl chr  X:16,296,735...16,306,078 		JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member ISO CTD Direct Evidence: marker/mechanism CTD PMID:24448831 NCBI chr12:40,466,418...40,498,813
Ensembl chr12:40,466,495...40,498,752 		JBrowse link
G Ar androgen receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:12220434, PMID:18554162, PMID:20164437 NCBI chr  X:67,656,253...67,828,998
Ensembl chr  X:67,656,253...67,829,026 		JBrowse link
G Arl2bp ADP-ribosylation factor like GTPase 2 binding protein ISS MouseDO NCBI chr19:10,753,670...10,763,247
Ensembl chr19:10,753,681...10,763,110 		JBrowse link
G Armc2 armadillo repeat containing 2 ISS MouseDO NCBI chr20:46,766,467...46,872,009
Ensembl chr20:46,765,881...46,871,946 		JBrowse link
G Aurkc aurora kinase C ISO CTD Direct Evidence: marker/mechanism CTD PMID:17435757 NCBI chr 1:69,958,452...69,964,546
Ensembl chr 1:69,958,452...69,963,592 		JBrowse link
G Bax BCL2 associated X, apoptosis regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:24723216, PMID:7569956 RGD:734632 NCBI chr 1:101,451,801...101,457,207
Ensembl chr 1:101,451,802...101,457,207 		JBrowse link
G Bcl2 BCL2, apoptosis regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:24723216 NCBI chr13:26,605,426...26,769,374
Ensembl chr13:26,605,426...26,769,374 		JBrowse link
G Bscl2 BSCL2 lipid droplet biogenesis associated, seipin ISS MouseDO NCBI chr 1:225,035,956...225,046,137
Ensembl chr 1:225,037,737...225,046,040 		JBrowse link
G Cabyr calcium binding tyrosine phosphorylation regulated ISS MouseDO NCBI chr18:4,082,175...4,096,650
Ensembl chr18:4,084,228...4,095,936 		JBrowse link
G Camk4 calcium/calmodulin-dependent protein kinase IV ISO RGD PMID:10932193 RGD:734683 NCBI chr18:25,746,878...25,975,962
Ensembl chr18:25,749,098...25,965,957 		JBrowse link
G Capza3 capping actin protein of muscle Z-line subunit alpha 3 ISO mRNA:decreased expression:semen
DNA:missense mutation: :p.M44K (human)		 RGD PMID:27114798, PMID:19341723 RGD:18899565, RGD:19165126 NCBI chr 4:174,181,644...174,182,857
Ensembl chr 4:174,181,644...174,182,856 		JBrowse link
G Catsper1 cation channel, sperm associated 1 ISO ClinVar Annotator: match by term: Male infertility ClinVar NCBI chr 1:220,715,000...220,724,235
Ensembl chr 1:220,714,995...220,719,939 		JBrowse link
G Cbl Cbl proto-oncogene ISO CTD Direct Evidence: marker/mechanism CTD PMID:16301331 NCBI chr 8:48,481,256...48,564,775
Ensembl chr 8:48,489,036...48,564,722 		JBrowse link
G Ccdc103 coiled-coil domain containing 103 ISO ClinVar Annotator: match by term: Male infertility ClinVar PMID:22581229, PMID:23891469, PMID:24033266, PMID:24357714, PMID:25326635, PMID:25741868, PMID:26123568, PMID:27637300, PMID:28492532, PMID:28790179, PMID:30311386 NCBI chr10:90,984,213...90,987,829
Ensembl chr10:90,984,227...90,987,823 		JBrowse link
G Cdc14a cell division cycle 14A ISO CTD Direct Evidence: marker/mechanism CTD PMID:29293958 NCBI chr 2:219,302,577...219,458,345
Ensembl chr 2:219,302,577...219,458,271 		JBrowse link
G Cftr CF transmembrane conductance regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:17823699, PMID:18554162 NCBI chr 4:42,693,263...42,860,679
Ensembl chr 4:42,692,836...42,860,676 		JBrowse link
G Chpt1 choline phosphotransferase 1 ISO ClinVar Annotator: match by term: Male infertility ClinVar NCBI chr 7:29,019,518...29,070,928
Ensembl chr 7:29,043,916...29,070,928 		JBrowse link
G Cldn2 claudin 2 ISO ClinVar Annotator: match by term: Male infertility ClinVar NCBI chr  X:111,122,552...111,133,188
Ensembl chr  X:111,122,552...111,137,769 		JBrowse link
G Cnot7 CCR4-NOT transcription complex, subunit 7 IEP mRNA:increased expression:testis RGD PMID:22785219 RGD:10755341 NCBI chr16:54,899,452...54,918,616
Ensembl chr16:54,899,452...54,918,613 		JBrowse link
G Csnk2a2 casein kinase 2 alpha 2 ISS MouseDO NCBI chr19:9,972,537...10,012,043
Ensembl chr19:9,972,537...10,012,043 		JBrowse link
G Cst8 cystatin 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20811015 NCBI chr 3:143,129,240...143,141,000
Ensembl chr 3:143,129,248...143,156,177 		JBrowse link
G Cyp17a1 cytochrome P450, family 17, subfamily a, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15890676 NCBI chr 1:266,422,127...266,429,947
Ensembl chr 1:266,422,132...266,428,239 		JBrowse link
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19303595 NCBI chr 8:62,472,087...62,478,122
Ensembl chr 8:62,472,095...62,478,147 		JBrowse link
G Dnaaf4 dynein axonemal assembly factor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23872636 NCBI chr 8:79,637,678...79,651,892
Ensembl chr 8:79,638,696...79,651,884 		JBrowse link
G Drosha drosha ribonuclease III ISO CTD Direct Evidence: marker/mechanism CTD PMID:22381205 NCBI chr 2:62,887,267...63,000,307
Ensembl chr 2:62,887,267...62,999,572 		JBrowse link
G Elovl2 ELOVL fatty acid elongase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21106902 NCBI chr17:21,382,461...21,422,413
Ensembl chr17:21,382,455...21,422,407 		JBrowse link
G Eno1 enolase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27460355 NCBI chr 5:167,288,223...167,299,610
Ensembl chr 5:167,288,223...167,299,609 		JBrowse link
G Eno4 enolase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23446454 NCBI chr 1:280,097,061...280,129,750
Ensembl chr 1:280,103,695...280,127,073 		JBrowse link
G Esr1 estrogen receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20833731, PMID:23213263 NCBI chr 1:41,192,029...41,594,799
Ensembl chr 1:41,192,824...41,594,796 		JBrowse link
G Fas Fas cell surface death receptor IEP protein:increased expression:testis (rat) RGD PMID:23441449 RGD:8663476 NCBI chr 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790 		JBrowse link
G Fkbp6 FKBP prolyl isomerase family member 6 ISO
IAGP		 DNA:deletion:exon (rat) RGD PMID:12764197, PMID:12764197 RGD:1582485, RGD:1582485 NCBI chr12:24,365,941...24,438,088
Ensembl chr12:24,367,199...24,438,019 		JBrowse link
G Foxk2 forkhead box K2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:32522586 NCBI chr10:110,468,905...110,518,854
Ensembl chr10:110,469,290...110,518,848 		JBrowse link
G Fshb follicle stimulating hormone subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:387166 NCBI chr 3:98,088,321...98,092,131
Ensembl chr 3:98,088,324...98,092,131 		JBrowse link
G Gnat3 G protein subunit alpha transducin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23818598 NCBI chr 4:13,827,764...13,878,126
Ensembl chr 4:13,827,756...13,878,126 		JBrowse link
G Gnrh1 gonadotropin releasing hormone 1 ISO CTD Direct Evidence: therapeutic CTD PMID:20063086 NCBI chr15:44,441,856...44,446,064
Ensembl chr15:44,442,555...44,442,875
Ensembl chr15:44,442,555...44,442,875 		JBrowse link
G Gpx4 glutathione peroxidase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19417079, PMID:19744930 NCBI chr 7:12,516,357...12,519,154
Ensembl chr 7:12,516,352...12,519,154 		JBrowse link
G Hoxd11 homeobox D11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:7925020 NCBI chr 3:61,604,256...61,606,874
Ensembl chr 3:61,604,672...61,606,400 		JBrowse link
G Kit KIT proto-oncogene receptor tyrosine kinase IAGP RGD PMID:12932303 RGD:1600050 NCBI chr14:35,072,131...35,149,638
Ensembl chr14:35,072,108...35,149,610 		JBrowse link
G Kmt2d lysine methyltransferase 2D ISO CTD Direct Evidence: marker/mechanism CTD PMID:19348672 NCBI chr 7:140,507,137...140,542,479
Ensembl chr 7:140,489,492...140,546,908 		JBrowse link
G Ldhc lactate dehydrogenase C ISO CTD Direct Evidence: marker/mechanism CTD PMID:21565994, PMID:23486916 NCBI chr 1:102,914,875...102,931,843
Ensembl chr 1:102,915,191...102,931,839 		JBrowse link
G Lhb luteinizing hormone subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:387166, PMID:10739843, PMID:15602022 NCBI chr 1:101,409,992...101,413,725
Ensembl chr 1:101,410,019...101,413,724 		JBrowse link
G Lhcgr luteinizing hormone/choriogonadotropin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20164437 NCBI chr 6:12,493,182...12,554,482
Ensembl chr 6:12,493,943...12,554,439 		JBrowse link
G Mdm2 MDM2 proto-oncogene ISO CTD Direct Evidence: marker/mechanism CTD PMID:22773013 NCBI chr 7:60,719,060...60,743,618
Ensembl chr 7:60,719,066...60,743,328 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility ISO CTD Direct Evidence: marker/mechanism
:DNA:polymorphism: :677C>T(human)		 CTD PMID:16861746, PMID:16247718 RGD:11565106 NCBI chr 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910 		JBrowse link
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16861746 NCBI chr17:66,210,444...66,295,014
Ensembl chr17:66,210,461...66,295,014 		JBrowse link
G Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16861746 NCBI chr 1:37,743,089...37,774,485
Ensembl chr 1:37,743,147...37,774,015 		JBrowse link
G Myo6 myosin VI ISO ClinVar Annotator: match by term: Male infertility ClinVar PMID:24033266, PMID:25741868 NCBI chr 8:87,583,649...87,731,271
Ensembl chr 8:87,630,916...87,731,269 		JBrowse link
G Nanos2 nanos C2HC-type zinc finger 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22190708 NCBI chr 1:79,894,450...79,895,910
Ensembl chr 1:79,894,450...79,895,910 		JBrowse link
G Nos3 nitric oxide synthase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25517965 NCBI chr 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410 		JBrowse link
G Nr1h4 nuclear receptor subfamily 1, group H, member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30245210 NCBI chr 7:30,003,429...30,162,095
Ensembl chr 7:30,003,429...30,162,056 		JBrowse link
G Nr5a1 nuclear receptor subfamily 5, group A, member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20887963 NCBI chr 3:22,998,900...23,020,441
Ensembl chr 3:22,999,616...23,020,441 		JBrowse link
G Nsun7 NOP2/Sun RNA methyltransferase family member 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17442852 NCBI chr14:43,525,530...43,584,621
Ensembl chr14:43,527,579...43,584,343 		JBrowse link
G Odad2 outer dynein arm docking complex subunit 2 ISO ClinVar Annotator: match by term: Male infertility ClinVar NCBI chr17:60,283,926...60,474,289
Ensembl chr17:60,287,203...60,474,031 		JBrowse link
G Ogg1 8-oxoguanine DNA glycosylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23376476 NCBI chr 4:145,282,828...145,289,367
Ensembl chr 4:145,282,797...145,289,326 		JBrowse link
G Pmfbp1 polyamine modulated factor 1 binding protein 1 ISS MouseDO NCBI chr19:42,132,551...42,196,990
Ensembl chr19:42,132,527...42,180,981 		JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:17923349 NCBI chr 1:141,172,117...141,188,893
Ensembl chr 1:141,172,531...141,188,031 		JBrowse link
G Pon1 paraoxonase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21561808, PMID:22206979 NCBI chr 4:30,249,749...30,276,297
Ensembl chr 4:30,249,742...30,276,372 		JBrowse link
G Rad23b RAD23 homolog B, nucleotide excision repair protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:11809813 NCBI chr 5:72,103,704...72,141,701
Ensembl chr 5:72,103,704...72,141,700 		JBrowse link
G Ranbp2 RAN binding protein 2 ISO RGD PMID:21310149 RGD:9835350 NCBI chr20:28,027,054...28,076,664
NCBI chr20:28,365,538...28,375,676
Ensembl chr20:28,027,054...28,076,664
Ensembl chr20:28,027,054...28,076,664 		JBrowse link
G Rnf114 ring finger protein 114 ISO mRNA:decreased expression:testes (human) RGD PMID:12621547 RGD:1303956 NCBI chr 3:164,248,736...164,260,499
Ensembl chr 3:164,248,731...164,260,497 		JBrowse link
G Rpgr retinitis pigmentosa GTPase regulator ISO RGD PMID:18579752 RGD:8553213 NCBI chr  X:14,271,012...14,331,745
Ensembl chr  X:14,271,017...14,331,486 		JBrowse link
G Selenop selenoprotein P ISO CTD Direct Evidence: marker/mechanism CTD PMID:17961124 NCBI chr 2:53,105,912...53,116,198
Ensembl chr 2:53,109,684...53,114,858 		JBrowse link
G Smad1 SMAD family member 1 IEP protein:decreased expression:spermatogonia, spermatocytes, spermatids RGD PMID:15704675 RGD:1643234 NCBI chr19:32,182,942...32,248,694
Ensembl chr19:32,188,267...32,248,684 		JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22206979 NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587 		JBrowse link
G Sox30 SRY-box transcription factor 30 ISO ClinVar Annotator: match by term: Male infertility ClinVar NCBI chr10:31,074,251...31,102,211
Ensembl chr10:31,074,251...31,102,169 		JBrowse link
G Spata16 spermatogenesis associated 16 ISS MouseDO NCBI chr 2:112,281,326...112,659,911
Ensembl chr 2:112,281,376...112,659,927 		JBrowse link
G Stx2 syntaxin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18277055 NCBI chr12:31,324,203...31,360,249
Ensembl chr12:31,335,372...31,360,254 		JBrowse link
G Sycp3 synaptonemal complex protein 3 ISO ClinVar Annotator: match by term: Male infertility ClinVar NCBI chr 7:29,029,887...29,044,344
Ensembl chr 7:29,029,263...29,044,251 		JBrowse link
G Tas1r3 taste 1 receptor member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23818598 NCBI chr 5:173,307,325...173,312,950
Ensembl chr 5:173,308,870...173,312,023 		JBrowse link
G Tcte1 t-complex-associated testis expressed 1 ISS MouseDO NCBI chr 9:17,847,866...17,867,276
Ensembl chr 9:17,846,364...17,866,927 		JBrowse link
G Tdrd7 tudor domain containing 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21436445 NCBI chr 5:61,557,909...61,631,719
Ensembl chr 5:61,564,864...61,631,710 		JBrowse link
G Tp53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22773013 NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449 		JBrowse link
G Tsc22d3 TSC22 domain family, member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22556341 NCBI chr  X:111,884,285...111,944,693
Ensembl chr  X:111,884,295...111,887,906 		JBrowse link
G Txndc8 thioredoxin domain containing 8 ISO protein:increased expression:sperm (human) RGD PMID:15181017 RGD:1303999 NCBI chr 5:75,088,063...75,116,427
Ensembl chr 5:75,088,050...75,116,490 		JBrowse link
G Zmynd15 zinc finger, MYND-type containing 15 ISO ClinVar Annotator: match by term: Male infertility ClinVar NCBI chr10:57,064,482...57,071,096
Ensembl chr10:57,064,482...57,071,096 		JBrowse link
aromatase excess syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp19a1 cytochrome P450, family 19, subfamily a, polypeptide 1 ISO ClinVar Annotator: match by term: Aromatase deficiency
ClinVar Annotator: match by OMIM:613546
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1496995, PMID:1825497, PMID:2973313, PMID:8265607, PMID:8530621, PMID:9177373, PMID:9211678, PMID:9718379, PMID:10566648, PMID:12466340, PMID:14715828, PMID:16882736, PMID:17164303, PMID:20048079, PMID:20186154, PMID:22992668, PMID:23329769, PMID:25088806, PMID:25415177, PMID:25793413, PMID:26191232, PMID:27256151, PMID:28492532 NCBI chr 8:58,744,849...58,772,408
Ensembl chr 8:58,744,849...58,772,408 		JBrowse link
Asthenozoospermia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bscl2 BSCL2 lipid droplet biogenesis associated, seipin ISO CTD Direct Evidence: marker/mechanism CTD PMID:26181198 NCBI chr 1:225,035,956...225,046,137
Ensembl chr 1:225,037,737...225,046,040 		JBrowse link
G Cfap251 cilia and flagella associated protein 251 ISO ClinVar Annotator: match by term: asthenozoospermia ClinVar PMID:30122541 NCBI chr12:38,708,915...38,781,598
Ensembl chr12:38,709,595...38,782,010 		JBrowse link
G Gstt1 glutathione S-transferase theta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19303595 NCBI chr20:13,799,102...13,816,527
Ensembl chr20:13,799,102...13,816,526 		JBrowse link
G Plau plasminogen activator, urokinase IEP
ISO		 mRNA, protein:decreased expression:testes, epididymis (rat)
CTD Direct Evidence: marker/mechanism		 CTD PMID:18998460, PMID:18998460 RGD:7241809 NCBI chr15:3,644,296...3,650,765
Ensembl chr15:3,644,769...3,650,819 		JBrowse link
autosomal recessive congenital bilateral absence of vas deferens term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adgrg2 adhesion G protein-coupled receptor G2 ISO ClinVar Annotator: match by term: Congenital bilateral aplasia of vas deferens from CFTR mutation ClinVar PMID:25741868, PMID:27476656 NCBI chr  X:36,930,186...37,054,968
Ensembl chr  X:36,930,186...37,003,642 		JBrowse link
G Cftr CF transmembrane conductance regulator ISO ClinVar Annotator: match by term: Congenital bilateral aplasia of vas deferens from CFTR mutation ClinVar
OMIM		 PMID:1283148, PMID:1283149, PMID:1284534, PMID:1284538, PMID:1284540, PMID:1370365, PMID:1370875, PMID:1376016, PMID:1377276, PMID:1379413, PMID:1380673, PMID:1381146, PMID:1381723, PMID:1382316, PMID:1384321, PMID:1536179, PMID:1545465, PMID:1673094, PMID:1678049, PMID:1695717, PMID:1709778, PMID:1710599, PMID:1710600, PMID:1712898, PMID:1721624, PMID:1756602, PMID:1757966, PMID:1903761, PMID:1937486, PMID:1997384, PMID:1999830, PMID:2135388, PMID:2210767, PMID:2210768, PMID:2210769, PMID:2220803, PMID:2233932, PMID:2236053, PMID:2267887, PMID:2300168, PMID:2344617, PMID:2349952, PMID:2378364, PMID:2397487, PMID:2475911, PMID:2565038, PMID:2570460, PMID:5371902, PMID:7475569, PMID:7493947, PMID:7504969, PMID:7506096, PMID:7508414, PMID:7512860, PMID:7513889, PMID:7515303, PMID:7520798, PMID:7522211, PMID:7522329, PMID:7529319, PMID:7529962, PMID:7532150, PMID:7534040, PMID:7536669, PMID:7537147, PMID:7537148, PMID:7539080, PMID:7539342, PMID:7542778, PMID:7543317, PMID:7544319, PMID:7544320, PMID:7544788, PMID:7545869, PMID:7550243, PMID:7551394, PMID:7573058, PMID:7599637, PMID:7680378, PMID:7680769, PMID:7683628, PMID:7684641, PMID:7684646, PMID:7689009, PMID:7691344, PMID:7691345, PMID:7691356, PMID:7692051, PMID:7739684, PMID:8343799, PMID:8421472, PMID:8528204, PMID:8530001, PMID:8556303, PMID:8605891, PMID:8662892, PMID:8698344, PMID:8702904, PMID:8707306, PMID:8825494, PMID:8825927, PMID:8829643, PMID:8834261, PMID:8863168, PMID:8910333, PMID:8947061, PMID:9003498, PMID:9003508, PMID:9043501, PMID:9056552, PMID:9099843, PMID:9135274, PMID:9150159, PMID:9164051, PMID:9239681, PMID:9254864, PMID:9259194, PMID:9259197, PMID:9272157, PMID:9272738, PMID:9305991, PMID:9435322, PMID:9439669, PMID:9507391, PMID:9521595, PMID:9550361, PMID:9550362, PMID:9557894, PMID:9620832, PMID:9683582, PMID:9725922, PMID:9736778, PMID:9804160, PMID:9921909, PMID:9950364, PMID:9950763, PMID:10103316, PMID:10200050, PMID:10204861, PMID:10206682, PMID:10341008, PMID:10376575, PMID:10386624, PMID:10388469, PMID:10401194, PMID:10445602, PMID:10480369, PMID:10556281, PMID:10571955, PMID:10601093, PMID:10652351, PMID:10653141, PMID:10668931, PMID:10719683, PMID:10755189, PMID:10762539, PMID:10782933, PMID:10798368, PMID:10801389, PMID:10834512, PMID:10875853, PMID:10875876, PMID:10909845, PMID:10922395, PMID:10923036, PMID:10970190, PMID:10980579, PMID:11005149, PMID:11069835, PMID:11101688, PMID:11118444, PMID:11168024, PMID:11180668, PMID:11242048, PMID:11278813, PMID:11280952, PMID:11354633, PMID:11379874, PMID:11388756, PMID:11430710, PMID:11446424, PMID:11448786, PMID:11466205, PMID:11491164, PMID:11504857, PMID:11523757, PMID:11547256, PMID:11597353, PMID:11729110, PMID:11737931, PMID:11746017, PMID:11810271, PMID:11883825, PMID:11938439, PMID:12007216, PMID:12070257, PMID:12120234, PMID:12127423, PMID:12133923, PMID:12172395, PMID:12200467, PMID:12437773, PMID:12439892, PMID:12452372, PMID:12503104, PMID:12578973, PMID:12658038, PMID:12719375, PMID:12732620, PMID:12752573, PMID:12767731, PMID:12815607, PMID:12833420, PMID:12843327, PMID:12865275, PMID:12919146, PMID:12940920, PMID:12952861, PMID:12955726, PMID:14526128, PMID:14685937, PMID:14963811, PMID:14993601, PMID:14998948, PMID:15024729, PMID:15070876, PMID:15084222, PMID:15084988, PMID:15097853, PMID:15121783, PMID:15126740, PMID:15141088, PMID:15176679, PMID:15221447, PMID:15246977, PMID:15287992, PMID:15354332, PMID:15367919, PMID:15371902, PMID:15371903, PMID:15371907, PMID:15463840, PMID:15463907, PMID:15480987, PMID:15482777, PMID:15520400, PMID:15536480, PMID:15537723, PMID:15619636, PMID:15638824, PMID:15645635, PMID:15698946, PMID:15705292, PMID:15744523, PMID:15758663, PMID:15772171, PMID:15776432, PMID:15784035, PMID:15829248, PMID:15858154, PMID:15880796, PMID:15905293, PMID:15948195, PMID:15952991, PMID:15987793, PMID:15994263, PMID:16020494, PMID:16049310, PMID:16126774, PMID:16187186, PMID:16189704, PMID:16196493, PMID:16263954, PMID:16272798, PMID:16339147, PMID:16429425, PMID:16435054, PMID:16436643, PMID:16596947, PMID:16617247, PMID:16678503, PMID:16778595, PMID:16784904, PMID:16801189, PMID:16840743, PMID:16931591, PMID:16980811, PMID:17003641, PMID:17015492, PMID:17035430, PMID:17098482, PMID:17137500, PMID:17175965, PMID:17206681, PMID:17234733, PMID:17235394, PMID:17272608, PMID:17314234, PMID:17329263, PMID:17331079, PMID:17353351, PMID:17380060, PMID:17407489, PMID:17413420, PMID:17449517, PMID:17481968, PMID:17489851, PMID:17495464, PMID:17507277, PMID:17539902, PMID:17572159, PMID:17594397, PMID:17594398, PMID:17662673, PMID:17692578, PMID:17718859, PMID:17850636, PMID:17975025, PMID:18301294, PMID:18304229, PMID:18305154, PMID:18306312, PMID:18373402, PMID:18421494, PMID:18456578, PMID:18463704, PMID:18507830, PMID:18567645, PMID:18639722, PMID:18685558, PMID:18687795, PMID:18703181, PMID:18716917, PMID:18722008, PMID:18796364, PMID:18951463, PMID:19014821, PMID:19092437, PMID:19166122, PMID:19202204, PMID:19318035, PMID:19318346, PMID:19406970, PMID:19707853, PMID:19710401, PMID:19724303, PMID:19734299, PMID:19810821, PMID:19812525, PMID:19843100, PMID:19846789, PMID:19880712, PMID:19885835, PMID:19893581, PMID:19897426, PMID:19914443, PMID:20021716, PMID:20059485, PMID:20100616, PMID:20301428, PMID:20351101, PMID:20381036, PMID:20416310, PMID:20460946, PMID:20522854, PMID:20538955, PMID:20595578, PMID:20622033, PMID:20657600, PMID:20659818, PMID:20691141, PMID:20705837, PMID:20722470, PMID:20797923, PMID:20837875, PMID:20846557, PMID:20880762, PMID:20932301, PMID:20976528, PMID:20977904, PMID:21083385, PMID:21131649, PMID:21152102, PMID:21184098, PMID:21228398, PMID:21233271, PMID:21416780, PMID:21483833, PMID:21507732, PMID:21520337, PMID:21538969, PMID:21602569, PMID:21658649, PMID:21679131, PMID:21825083, PMID:21976485, PMID:21983161, PMID:22020151, PMID:22043142, PMID:22047557, PMID:22148899, PMID:22156145, PMID:22210114, PMID:22293084, PMID:22318583, PMID:22383668, PMID:22427236, PMID:22439019, PMID:22468138, PMID:22483971, PMID:22504961, PMID:22658665, PMID:22664493, PMID:22678879, PMID:22724884, PMID:22768251, PMID:22842702, PMID:22892530, PMID:22942289, PMID:22975760, PMID:22981120, PMID:22992668, PMID:22995991, PMID:23017188, PMID:23027855, PMID:23055971, PMID:23076339, PMID:23082198, PMID:23104983, PMID:23276700, PMID:23313410, PMID:23361109, PMID:23378603, PMID:23381846, PMID:23420618, PMID:23430892, PMID:23457292, PMID:23466340, PMID:23514810, PMID:23523379, PMID:23590265, PMID:23687349, PMID:23751316, PMID:23757359, PMID:23757361, PMID:23810505, PMID:23857699, PMID:23883480, PMID:23891399, PMID:23924900, PMID:23951356, PMID:23974870, PMID:24033266, PMID:24058550, PMID:24066763, PMID:24081349, PMID:24204751, PMID:24418186, PMID:24440181, PMID:24440239, PMID:24461666, PMID:24559724, PMID:24586523, PMID:24631642, PMID:24697796, PMID:24813944, PMID:24816901, PMID:24836205, PMID:24958810, PMID:24973281, PMID:25024266, PMID:25033378, PMID:25042876, PMID:25049054, PMID:25060775, PMID:25066652, PMID:25087612, PMID:25122143, PMID:25145599, PMID:25148434, PMID:25171465, PMID:25251442, PMID:25266159, PMID:25287046, PMID:25304080, PMID:25308578, PMID:25311995, PMID:25383785, PMID:25473543, PMID:25489051, PMID:25492507, PMID:25583415, PMID:25651269, PMID:25682022, PMID:25698453, PMID:25704068, PMID:25735457, PMID:25741868, PMID:25741869, PMID:25754095, PMID:25755212, PMID:25781545, PMID:25797027, PMID:25824995, PMID:25826586, PMID:25867140, PMID:25869325, PMID:25880441, PMID:25905921, PMID:25910067, PMID:25981758, PMID:26003066, PMID:26014425, PMID:26070913, PMID:26087176, PMID:26135562, PMID:26199320, PMID:26208274, PMID:26277102, PMID:26324139, PMID:26436105, PMID:26437683, PMID:26467025, PMID:26474553, PMID:26526220, PMID:26568242, PMID:26574590, PMID:26618866, PMID:26631874, PMID:26651825, PMID:26708955, PMID:26755536, PMID:26823392, PMID:26846474, PMID:26847993, PMID:26946416, PMID:26968770, PMID:26990548, PMID:27086061, PMID:27158673, PMID:27171515, PMID:27209008, PMID:27214033, PMID:27214204, PMID:27222777, PMID:27264265, PMID:27298017, PMID:27334259, PMID:27469177, PMID:27659740, PMID:27707539, PMID:27728908, PMID:27738188, PMID:27745802, PMID:27773592, PMID:27805836, PMID:27812499, PMID:27898234, PMID:28129809, PMID:28129811, PMID:28196530, PMID:28325531, PMID:28371569, PMID:28408918, PMID:28419121, PMID:28492532, PMID:28502372, PMID:28544683, PMID:28546993, PMID:28603918, PMID:28606620, PMID:28611235, PMID:28651844, PMID:28711222, PMID:28736296, PMID:28771972, PMID:28785019, PMID:28800122, PMID:28801929, PMID:28830496, PMID:28947035, PMID:29099333, PMID:29126871, PMID:29168366, PMID:29261177, PMID:29279204, PMID:29327948, PMID:29451946, PMID:29497617, PMID:29504914, PMID:29520692, PMID:29589582, PMID:29590070, PMID:29805046, PMID:29807875, PMID:30046002, PMID:30134826, PMID:30311386, PMID:30548586, PMID:30561903, PMID:30698611, PMID:30873022, PMID:30888834, PMID:30930780, PMID:31005549, PMID:31759907, PMID:31776420, PMID:31808782, PMID:31883651, PMID:31978131, PMID:32357917 NCBI chr 4:42,693,263...42,860,679
Ensembl chr 4:42,692,836...42,860,676 		JBrowse link
azoospermia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alb albumin ISO CTD Direct Evidence: therapeutic CTD PMID:27289041 NCBI chr14:19,176,275...19,191,793
Ensembl chr14:19,176,277...19,191,863 		JBrowse link
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 Bcl2 BCL2, apoptosis regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:20610805 NCBI chr13:26,605,426...26,769,374
Ensembl chr13:26,605,426...26,769,374 		JBrowse link
G Bcl2l2 Bcl2-like 2 ISO RGD PMID:9770502 RGD:14394611 NCBI chr15:33,543,774...33,549,165
Ensembl chr15:33,544,312...33,549,164 		JBrowse link
G Brdt bromodomain testis associated susceptibility ISO protein:decreased expression:testis:
DNA:SNP: :rs3088232(human)		 RGD PMID:22035730, PMID:22016351 RGD:9586359, RGD:9586360 NCBI chr14:3,437,876...3,462,613
Ensembl chr14:3,405,995...3,462,629 		JBrowse link
G Bscl2 BSCL2 lipid droplet biogenesis associated, seipin IMP RGD PMID:25934999 RGD:11085488 NCBI chr 1:225,035,956...225,046,137
Ensembl chr 1:225,037,737...225,046,040 		JBrowse link
G Bscl2m1Kyo BSCL2, seipin lipid droplet biogenesis associated; ENU induced mutant1, Kyo IMP RGD PMID:25934999 RGD:11085488
G Cftr CF transmembrane conductance regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:10856487 NCBI chr 4:42,693,263...42,860,679
Ensembl chr 4:42,692,836...42,860,676 		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 Epas1 endothelial PAS domain protein 1 ISO RGD PMID:14608355 RGD:734934 NCBI chr 6:10,306,508...10,385,239
Ensembl chr 6:10,306,405...10,387,265 		JBrowse link
G Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit susceptibility ISO DNA:snp:3' utr:c.8092C>A (human) RGD PMID:18616887 RGD:13207429 NCBI chr 1:80,256,973...80,268,198
Ensembl chr 1:80,256,973...80,268,198 		JBrowse link
G Gopc golgi associated PDZ and coiled-coil motif containing ISS OMIM:102530 | OMIM:108420 | OMIM:243060 | OMIM:258150 | OMIM:270960 | OMIM:309120 | OMIM:415000 | OMIM:606766 | OMIM:612997 | OMIM:613957 | OMIM:613958 | OMIM:614822 | OMIM:615081 | OMIM:615413 | OMIM:615841 | OMIM:615842 MouseDO NCBI chr20:33,471,355...33,521,281
Ensembl chr20:33,471,351...33,521,311 		JBrowse link
G Hsd17b10 hydroxysteroid (17-beta) dehydrogenase 10 ISO mRNA:increased expression:testis RGD PMID:9851691 RGD:13792783 NCBI chr  X:21,696,796...21,699,241
Ensembl chr  X:21,696,772...21,699,241 		JBrowse link
G Nlrp14 NLR family, pyrin domain containing 14 ISO ClinVar Annotator: match by term: Spermatogenic Failure ClinVar PMID:16931801, PMID:20981092, PMID:22344438, PMID:24033266, PMID:25741868 NCBI chr 1:171,305,558...171,340,428
Ensembl chr 1:171,306,049...171,340,493 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Spermatogenic Failure		 CTD
ClinVar		 PMID:14643120 NCBI chr 7:29,029,887...29,044,344
Ensembl chr 7:29,029,263...29,044,251 		JBrowse link
congenital bilateral absence of vas deferens term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adgrg2 adhesion G protein-coupled receptor G2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr  X:36,930,186...37,054,968
Ensembl chr  X:36,930,186...37,003,642 		JBrowse link
G Cftr CF transmembrane conductance regulator ISO
IMP		 CTD Direct Evidence: marker/mechanism
associated with Cystic Fibrosis
DNA:deletion, missense mutations: :multiple
DNA:deletion, nonsense mutations, missense mutations: :multiple		 CTD PMID:10875853, PMID:11119745, PMID:24608905, PMID:10653141, PMID:11119745 RGD:11566051, RGD:11566040, RGD:11566027 NCBI chr 4:42,693,263...42,860,679
Ensembl chr 4:42,692,836...42,860,676 		JBrowse link
CRYPTOZOOSPERMIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G M1ap meiosis 1 associated protein ISO ClinVar Annotator: match by term: Cryptozoospermia ClinVar PMID:25741868 NCBI chr 4:113,772,716...113,864,171
Ensembl chr 4:113,782,206...113,863,224 		JBrowse link
G Sycp2 synaptonemal complex protein 2 ISO ClinVar Annotator: match by term: Cryptozoospermia 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
Globozoospermia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Spata16 spermatogenesis associated 16 ISO ClinVar Annotator: match by term: Globozoospermia ClinVar PMID:17847006, PMID:24265589, PMID:28492532, PMID:29065458 NCBI chr 2:112,281,326...112,659,911
Ensembl chr 2:112,281,376...112,659,927 		JBrowse link
hypogonadotropic hypogonadism 24 without anosmia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fshb follicle stimulating hormone subunit beta ISO ClinVar Annotator: match by term: isolated follicle-stimulating hormone deficiency
ClinVar Annotator: match by term: Follicle-stimulating hormone deficiency, isolated
ClinVar Annotator: match by OMIM:229070		 OMIM
ClinVar		 PMID:4344039, PMID:8220432, PMID:9271483, PMID:9280841, PMID:9624193, PMID:9806482, PMID:12161499, PMID:20488225, PMID:22791757, PMID:25052309, PMID:25741868, PMID:28392474, PMID:28492532 NCBI chr 3:98,088,321...98,092,131
Ensembl chr 3:98,088,324...98,092,131 		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
oligoasthenoteratozoospermia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Spata20 spermatogenesis associated 20 ISS MouseDO NCBI chr10:82,202,619...82,217,260
Ensembl chr10:82,202,605...82,209,459 		JBrowse link
oligospermia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bckdk branched chain ketoacid dehydrogenase kinase IAGP DNA:missense mutation:cds:G369E (rat) RGD PMID:27472223 RGD:39131293 NCBI chr 1:199,351,628...199,356,299
Ensembl chr 1:199,351,628...199,356,881 		JBrowse link
G Brdt bromodomain testis associated susceptibility ISO DNA:SNP: :rs3088232(human) RGD PMID:22016351 RGD:9586360 NCBI chr14:3,437,876...3,462,613
Ensembl chr14:3,405,995...3,462,629 		JBrowse link
G Brwd1 bromodomain and WD repeat domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18353305 NCBI chr11:36,338,080...36,430,473
Ensembl chr11:36,337,635...36,430,413 		JBrowse link
G Bscl2 BSCL2 lipid droplet biogenesis associated, seipin ISO CTD Direct Evidence: marker/mechanism CTD PMID:26181198 NCBI chr 1:225,035,956...225,046,137
Ensembl chr 1:225,037,737...225,046,040 		JBrowse link
G Cdc14a cell division cycle 14A ISO CTD Direct Evidence: marker/mechanism CTD PMID:29293958 NCBI chr 2:219,302,577...219,458,345
Ensembl chr 2:219,302,577...219,458,271 		JBrowse link
G Cga glycoprotein hormones, alpha polypeptide ISO CTD Direct Evidence: therapeutic CTD PMID:16483355 NCBI chr 5:50,362,491...50,393,368
Ensembl chr 5:50,381,244...50,393,367 		JBrowse link
G Dicer1 dicer 1 ribonuclease III ISO CTD Direct Evidence: marker/mechanism CTD PMID:22381205 NCBI chr 6:128,388,084...128,453,234
Ensembl chr 6:128,388,053...128,434,183 		JBrowse link
G Esr1 estrogen receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20833731 NCBI chr 1:41,192,029...41,594,799
Ensembl chr 1:41,192,824...41,594,796 		JBrowse link
G Fshb follicle stimulating hormone subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:4607150 NCBI chr 3:98,088,321...98,092,131
Ensembl chr 3:98,088,324...98,092,131 		JBrowse link
G Kif3b kinesin family member 3B ISO ClinVar Annotator: match by term: Oligospermia ClinVar NCBI chr 3:148,772,937...148,813,342
Ensembl chr 3:148,773,259...148,813,293 		JBrowse link
G Msh4 mutS homolog 4 ISO ClinVar Annotator: match by term: Oligospermia ClinVar PMID:25741868 NCBI chr 2:260,057,708...260,108,897
Ensembl chr 2:260,057,855...260,108,897 		JBrowse link
G Nos3 nitric oxide synthase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29983398 NCBI chr 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410 		JBrowse link
G Nr0b1 nuclear receptor subfamily 0, group B, member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23384712 NCBI chr  X:54,734,385...54,738,513
Ensembl chr  X:54,734,385...54,738,513 		JBrowse link
G Piwil4 piwi-like RNA-mediated gene silencing 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20940137 NCBI chr 8:13,208,774...13,251,970
Ensembl chr 8:13,208,774...13,251,812 		JBrowse link
G Tbc1d25 TBC1 domain family, member 25 ISO ClinVar Annotator: match by term: Oligospermia ClinVar NCBI chr  X:15,064,733...15,088,579
Ensembl chr  X:15,064,594...15,088,589 		JBrowse link
G Tpcn1 two pore segment channel 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24451262 NCBI chr12:41,507,784...41,566,847
Ensembl chr12:41,543,696...41,566,847 		JBrowse link
Sensorineural Deafness and Male Infertility term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Catsper2 cation channel, sperm associated 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Deafness-infertility syndrome		 CTD
ClinVar		 PMID:19344877, PMID:24033266, PMID:25741868 NCBI chr 3:113,357,361...113,379,498
Ensembl chr 3:113,357,365...113,376,751 		JBrowse link
G Ckmt1 creatine kinase, mitochondrial 1 ISO ClinVar Annotator: match by term: Deafness-infertility syndrome ClinVar PMID:25741868 NCBI chr 3:113,318,559...113,324,459
Ensembl chr 3:113,318,563...113,324,461 		JBrowse link
G Strc stereocilin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Deafness-infertility syndrome		 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
Sertoli cell-only syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dmc1 DNA meiotic recombinase 1 ISS OMIM:305700 | OMIM:400042 MouseDO NCBI chr 7:120,796,217...120,840,524
Ensembl chr 7:120,796,217...120,839,577 		JBrowse link
G Hnrnpl heterogeneous nuclear ribonucleoprotein L ISO protein:decreased expression:testis (human) RGD PMID:22245417 RGD:9999426 NCBI chr 1:86,994,090...87,006,776
Ensembl chr 1:86,996,093...87,006,776 		JBrowse link
G Nupr1 nuclear protein 1, transcriptional regulator ISS OMIM:305700 | OMIM:400042 MouseDO NCBI chr 1:194,767,484...194,769,519
Ensembl chr 1:194,767,474...194,769,524 		JBrowse link
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 Nlrp14 NLR family, pyrin domain containing 14 ISO ClinVar Annotator: match by term: Spermatogenic Failure ClinVar PMID:16931801, PMID:20981092, PMID:22344438, PMID:24033266, PMID:25741868 NCBI chr 1:171,305,558...171,340,428
Ensembl chr 1:171,306,049...171,340,493 		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
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 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zmynd15 zinc finger, MYND-type containing 15 ISO OMIM NCBI chr10:57,064,482...57,071,096
Ensembl chr10:57,064,482...57,071,096 		JBrowse link
spermatogenic failure 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Syce1 synaptonemal complex central element protein 1 ISO ClinVar Annotator: match by term: Spermatogenic failure 15 ClinVar
OMIM		 PMID:25899990 NCBI chr 1:213,523,638...213,534,641
Ensembl chr 1:213,523,639...213,534,641 		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 Annotator: match by term: Spermatogenic failure 17		 ClinVar PMID:26721930, PMID:31463947 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 Annotator: match by term: Spermatogenic failure 17		 ClinVar
OMIM		 PMID:26721930, PMID:31463947 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 22 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Meiob meiosis specific with OB-fold ISO ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 22 ClinVar
OMIM		 PMID:28206990 NCBI chr10:14,174,645...14,206,026
Ensembl chr10:14,174,732...14,206,025 		JBrowse link
spermatogenic failure 23 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tex14 testis expressed 14, intercellular bridge forming factor ISO ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 23 ClinVar
OMIM		 PMID:28206990, PMID:29790874 NCBI chr10:74,724,070...74,849,172
Ensembl chr10:74,724,549...74,849,194 		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, PMID:25741868, PMID:31479588 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, PMID:25741868, PMID:31479588 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:25741868, PMID:28492532, PMID:31479588 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:25741868, PMID:28492532, PMID:31479588 NCBI chr19:45,938,433...45,946,647
Ensembl chr19:45,938,915...45,945,741 		JBrowse link
G 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 		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 PMID:25741868, PMID:31479588 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:25741868, PMID:28492532, PMID:31479588 NCBI chr19:45,946,422...45,956,822
Ensembl chr19:45,946,236...45,956,844 		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 chr10:74,724,070...74,849,172
Ensembl chr10:74,724,549...74,849,194 		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 chr16:62,313,284...62,373,288
Ensembl chr16:62,313,263...62,373,253 		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 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chpt1 choline phosphotransferase 1 ISO ClinVar Annotator: match by term: Spermatogenesis arrest
ClinVar Annotator: match by term: Spermatogenic failure 4		 ClinVar PMID:19110213, PMID:28492532, PMID:28801929, PMID:29713536 NCBI chr 7:29,019,518...29,070,928
Ensembl chr 7:29,043,916...29,070,928 		JBrowse link
G M1ap meiosis 1 associated protein ISO ClinVar Annotator: match by term: Spermatogenesis maturation arrest ClinVar PMID:32017041 NCBI chr 4:113,772,716...113,864,171
Ensembl chr 4:113,782,206...113,863,224 		JBrowse link
G Rpl10l ribosomal protein L10-like ISO ClinVar Annotator: match by term: Spermatogenesis maturation arrest ClinVar PMID:32111475 NCBI chr 6:88,231,273...88,232,549
Ensembl chr 6:88,231,611...88,232,252 		JBrowse link
G Sycp2 synaptonemal complex protein 2 ISO ClinVar Annotator: match by term: Early spermatogenesis maturation arrest 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 Sycp3 synaptonemal complex protein 3 ISO ClinVar Annotator: match by term: Spermatogenic failure 4
ClinVar Annotator: match by term: Spermatogenesis arrest
ClinVar Annotator: match by OMIM:270960		 OMIM
ClinVar		 PMID:14643120, PMID:19110213, PMID:28492532, PMID:28801929, PMID:29713536 NCBI chr 7:29,029,887...29,044,344
Ensembl chr 7:29,029,263...29,044,251 		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 44 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cep112 centrosomal protein 112 ISO ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 44 OMIM
ClinVar		 PMID:31654588 NCBI chr10:96,660,294...97,146,426
Ensembl chr10:96,663,740...97,146,424 		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
Teratozoospermia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nectin2 nectin cell adhesion molecule 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28689229 NCBI chr 1:80,631,449...80,666,617
Ensembl chr 1:80,631,450...80,666,585 		JBrowse link
G Nectin3 nectin cell adhesion molecule 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28689229 NCBI chr11:57,897,879...57,995,193
Ensembl chr11:57,897,879...57,993,548 		JBrowse link
G Nos3 nitric oxide synthase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29983398 NCBI chr 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410 		JBrowse link
Visceral Heterotaxy 9, Autosomal term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mns1 meiosis-specific nuclear structural 1 ISO ClinVar Annotator: match by term: HETEROTAXY, VISCERAL, 9, AUTOSOMAL, WITH MALE INFERTILITY ClinVar
OMIM		 PMID:30148830 NCBI chr 8:79,054,240...79,075,119
Ensembl chr 8:79,054,237...79,075,122 		JBrowse link
G Tex9 testis expressed 9 ISO ClinVar Annotator: match by term: HETEROTAXY, VISCERAL, 9, AUTOSOMAL, WITH MALE INFERTILITY ClinVar PMID:30148830 NCBI chr 8:79,083,449...79,119,621
Ensembl chr 8:79,083,522...79,119,720 		JBrowse link
X-linked congenital bilateral absence of vas deferens term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adgrg2 adhesion G protein-coupled receptor G2 ISO ClinVar Annotator: match by term: Vas deferens, congenital bilateral aplasia of, X-linked ClinVar
OMIM		 PMID:27476656 NCBI chr  X:36,930,186...37,054,968
Ensembl chr  X:36,930,186...37,003,642 		JBrowse link
X-linked spermatogenic failure 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tex11 testis expressed 11 ISO ClinVar Annotator: match by term: Spermatogenic failure, X-linked, 2 OMIM
ClinVar		 PMID:25970010, PMID:28492532 NCBI chr  X:70,670,212...70,946,621
Ensembl chr  X:70,670,322...70,946,565 		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 		JBrowse link
Young Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pgk1 phosphoglycerate kinase 1 ISO ClinVar Annotator: match by term: Male infertility due to obstructive azoospermia ClinVar NCBI chr  X:77,263,399...77,279,373
Ensembl chr  X:77,263,359...77,279,367 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      reproductive system disease 2584
        male reproductive system disease 1783
          male infertility 177
            Aspermia 0
            Asthenozoospermia + 8
            Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities 0
            Male Sterility due to Y-Chromosome Deletions 0
            Sensorineural Deafness and Male Infertility 3
            Sertoli cell-only syndrome + 3
            Teratozoospermia + 6
            Visceral Heterotaxy 9, Autosomal 2
            aromatase excess syndrome 1
            azoospermia + 40
            infertility due to extratesticular cause 0
            oligospermia + 21
            spermatogenic failure + 64
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      Urogenital Diseases 4155
        Female Urogenital Diseases and Pregnancy Complications 1915
          Female Urogenital Diseases 1612
            female reproductive system disease 1608
              infertility 240
                male infertility 177
                  Aspermia 0
                  Asthenozoospermia + 8
                  Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities 0
                  Male Sterility due to Y-Chromosome Deletions 0
                  Sensorineural Deafness and Male Infertility 3
                  Sertoli cell-only syndrome + 3
                  Teratozoospermia + 6
                  Visceral Heterotaxy 9, Autosomal 2
                  aromatase excess syndrome 1
                  azoospermia + 40
                  infertility due to extratesticular cause 0
                  oligospermia + 21
                  spermatogenic failure + 64
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.