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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:primary ovarian insufficiency
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Accession:DOID:5426 term browser browse the term
Definition:An ovarian disease where ovaries do not produce estrogen despite high levels of circulating gonadotropins in women under 40. (DO)
Synonyms:exact_synonym: POF;   gonadotropin resistant ovary syndrome;   premature ovarian failure;   premature ovarian insufficiency;   resistant ovary syndrome
 narrow_synonym: POFX;   X-linked hypergonadotropic ovarian failure;   X-linked premature ovarian failure;   fragile X associated primary ovarian insufficiency;   fragile X premature ovarian failure
 primary_id: MESH:D016649
 xref: EFO:0004266;   ICD10CM:E28.3;   MIM:PS311360;   NCI:C113352;   ORDO:619
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
primary ovarian insufficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aadac arylacetamide deacetylase ISO ClinVar Annotator: match by term: Primary Ovarian Insufficiency ClinVar PMID:21681106 PMID:25666259 NCBI chr 2:146,293,449...146,351,061
Ensembl chr 2:146,313,279...146,324,525 		JBrowse link
G Ackr3 atypical chemokine receptor 3 ISO ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 NCBI chr 9:98,247,300...98,258,877
Ensembl chr 9:98,246,605...98,260,214 		JBrowse link
G Adamts1 ADAM metallopeptidase with thrombospondin type 1 motif, 1 ISO ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 NCBI chr11:38,418,565...38,427,384
Ensembl chr11:38,418,101...38,427,390 		JBrowse link
G Adamts5 ADAM metallopeptidase with thrombospondin type 1 motif, 5 ISO ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 NCBI chr11:38,486,945...38,533,516
Ensembl chr11:38,486,955...38,533,516 		JBrowse link
G Adamts6 ADAM metallopeptidase with thrombospondin type 1 motif, 6 ISO ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 NCBI chr 2:37,155,260...37,367,077
Ensembl chr 2:37,155,288...37,367,070 		JBrowse link
G Aff2 ALF transcription elongation factor 2 ISO ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 NCBI chr  X:152,972,579...153,477,080
Ensembl chr  X:152,972,581...153,477,080 		JBrowse link
G Afp alpha-fetoprotein ISO ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 NCBI chr14:17,857,584...17,875,645
Ensembl chr14:17,857,584...17,875,649 		JBrowse link
G Amhr2 anti-Mullerian hormone receptor type 2 ISO ClinVar Annotator: match by term: Premature ovarian insufficiency ClinVar PMID:25741868 NCBI chr 7:135,454,517...135,470,183
Ensembl chr 7:135,457,922...135,471,104 		JBrowse link
G Aopep aminopeptidase O ISO ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 NCBI chr17:1,817,001...2,133,008
Ensembl chr17:1,817,001...2,133,104 		JBrowse link
G Atg2a autophagy related 2A ISO ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 NCBI chr 1:212,971,822...212,991,505
Ensembl chr 1:212,971,844...212,991,528 		JBrowse link
G Atg7 autophagy related 7 ISO ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 NCBI chr 4:149,390,000...149,597,534
Ensembl chr 4:149,391,390...149,598,319 		JBrowse link
G Atg9b autophagy related 9B ISO ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 NCBI chr 4:11,678,548...11,686,097
Ensembl chr 4:11,678,299...11,686,079 		JBrowse link
G Bbs9 Bardet-Biedl syndrome 9 susceptibility ISO DNA:SNPs,haplotypes: : RGD PMID:18349106 RGD:9684994 NCBI chr 8:29,288,846...29,713,889
Ensembl chr 8:29,289,997...29,713,880 		JBrowse link
G Bmal1 basic helix-loop-helix ARNT like 1 ISO ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 NCBI chr 1:176,766,222...176,864,741
Ensembl chr 1:176,829,305...176,864,739 		JBrowse link
G Bmp15 bone morphogenetic protein 15 susceptibility ISO DNA:missense mutations: ;-9C>G, 308A>G, 852C>T RGD PMID:16508750 RGD:1599496 NCBI chr  X:18,840,943...18,846,006
Ensembl chr  X:18,840,829...18,847,438 		JBrowse link
G Bmp6 bone morphogenetic protein 6 ISO ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 NCBI chr17:26,523,704...26,785,558
Ensembl chr17:26,523,704...26,675,261 		JBrowse link
G Bmpr1b bone morphogenetic protein receptor type 1B ISO ClinVar Annotator: match by term: Premature ovarian insufficiency ClinVar PMID:25741868 NCBI chr 2:233,211,525...233,544,344
Ensembl chr 2:233,211,525...233,544,311 		JBrowse link
G Bnc1 basonuclin zinc finger protein 1 ISO ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 NCBI chr 1:145,326,881...145,352,534
Ensembl chr 1:145,326,892...145,353,510 		JBrowse link
G Brd3 bromodomain containing 3 ISO ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 NCBI chr 3:31,173,332...31,227,749
Ensembl chr 3:31,173,332...31,227,629 		JBrowse link
G Brdt bromodomain testis associated ISO ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 NCBI chr14:2,532,275...2,590,780
Ensembl chr14:2,532,275...2,590,760 		JBrowse link
G Brwd1 bromodomain and WD repeat domain containing 1 ISO ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 NCBI chr11:48,756,174...48,853,692
Ensembl chr11:48,756,811...48,848,256 		JBrowse link
G C3 complement C3 ISO ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 PMID:28492532 PMID:31042289 NCBI chr 9:2,174,412...2,201,339
Ensembl chr 9:2,174,412...2,201,339 		JBrowse link
G Camsap2 calmodulin regulated spectrin-associated protein family, member 2 ISO ClinVar Annotator: match by term: Premature ovarian insufficiency ClinVar PMID:25741868 NCBI chr13:50,274,950...50,354,298
Ensembl chr13:50,274,950...50,354,298 		JBrowse link
G Ccnt2 cyclin T2 ISO ClinVar Annotator: match by term: Premature ovarian insufficiency ClinVar PMID:25741868 NCBI chr13:41,804,007...41,845,641
Ensembl chr13:41,804,046...41,844,488 		JBrowse link
G Cdc7 cell division cycle 7 ISO ClinVar Annotator: match by term: Premature ovarian insufficiency ClinVar PMID:25741868 NCBI chr14:2,949,538...2,969,656
Ensembl chr14:2,949,539...2,969,656 		JBrowse link
G Cenpi centromere protein I ISO ClinVar Annotator: match by term: Premature ovarian insufficiency ClinVar PMID:25741868 NCBI chr  X:101,809,192...101,860,935
Ensembl chr  X:101,809,659...101,860,934 		JBrowse link
G Chd7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:24033266 PMID:25741868 PMID:28492532 PMID:31042289 NCBI chr 5:26,609,245...26,792,736
Ensembl chr 5:26,609,407...26,792,734 		JBrowse link
G Chek2 checkpoint kinase 2 ISO ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:20713355 PMID:22114986 PMID:25503501 PMID:25619829 PMID:25741868 More... NCBI chr12:51,448,838...51,481,159
Ensembl chr12:51,449,140...51,480,667 		JBrowse link
G Ckb creatine kinase B ISO ClinVar Annotator: match by term: Premature ovarian insufficiency ClinVar PMID:25741868 NCBI chr 6:136,550,583...136,553,464
Ensembl chr 6:136,549,844...136,553,478 		JBrowse link
G Crocc ciliary rootlet coiled-coil, rootletin ISO ClinVar Annotator: match by term: Premature ovarian insufficiency ClinVar PMID:25741868 NCBI chr 5:158,603,979...158,646,728
Ensembl chr 5:158,603,556...158,640,238 		JBrowse link
G Cyp17a1 cytochrome P450, family 17, subfamily a, polypeptide 1 ISO ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 PMID:34480478 NCBI chr 1:255,476,861...255,484,547
Ensembl chr 1:255,476,861...255,482,974 		JBrowse link
G Cyp19a1 cytochrome P450, family 19, subfamily a, polypeptide 1 ISO ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:20048079 PMID:25741868 NCBI chr 8:63,449,148...63,476,534
Ensembl chr 8:63,449,148...63,476,917 		JBrowse link
G Cyp2c6 cytochrome P450, family 2, subfamily C, polypeptide 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15248218 NCBI chr 1:247,879,058...247,916,804
Ensembl chr 1:247,879,078...247,916,798 		JBrowse link
G Ddi1 DNA-damage inducible 1 homolog 1 ISO ClinVar Annotator: match by term: Premature ovarian insufficiency ClinVar PMID:25741868 NCBI chr 8:11,881,544...11,883,391
Ensembl chr 8:11,877,668...11,883,637 		JBrowse link
G Diaph2 diaphanous-related formin 2 susceptibility ISO DNA:translocation:intron:t(X;12)(q21;p1.3) RGD PMID:9070928 RGD:1601071 NCBI chr  X:96,700,535...97,528,080
Ensembl chr  X:96,700,726...97,528,080 		JBrowse link
G Dmc1 DNA meiotic recombinase 1 ISO ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 NCBI chr 7:113,005,278...113,047,854
Ensembl chr 7:113,005,281...113,047,854 		JBrowse link
G Dmrt3 doublesex and mab-3 related transcription factor 3 ISO ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 NCBI chr 1:232,670,642...232,690,557
Ensembl chr 1:232,675,059...232,688,833 		JBrowse link
G Dnah1 dynein, axonemal, heavy chain 1 ISO ClinVar Annotator: match by term: Premature ovarian insufficiency ClinVar PMID:25741868 PMID:28492532 NCBI chr16:6,462,419...6,523,545
Ensembl chr16:6,462,419...6,524,760 		JBrowse link
G Dnah6 dynein, axonemal, heavy chain 6 ISO ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 NCBI chr 4:106,622,235...106,842,461
Ensembl chr 4:106,612,973...106,842,417 		JBrowse link
G Dppa2 developmental pluripotency-associated 2 ISO ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 NCBI chr11:66,008,002...66,020,044
Ensembl chr11:66,011,628...66,020,994 		JBrowse link
G Eif2b2 eukaryotic translation initiation factor 2B subunit beta ISO ClinVar Annotator: match by term: Premature ovarian insufficiency ClinVar PMID:11704758 PMID:12707859 PMID:15054402 PMID:19625339 PMID:21560189 More... NCBI chr 6:110,597,979...110,604,403
Ensembl chr 6:110,597,729...110,604,403 		JBrowse link
G Ercc6l2 ERCC excision repair 6 like 2 ISO ClinVar Annotator: match by term: Premature ovarian insufficiency ClinVar PMID:24507776 PMID:25741868 PMID:27185855 PMID:28492532 PMID:29146883 More... NCBI chr17:1,055,881...1,323,207
Ensembl chr17:1,222,139...1,316,056 		JBrowse link
G Esrrb estrogen-related receptor beta ISO ClinVar Annotator: match by term: Premature ovarian insufficiency ClinVar PMID:25741868 NCBI chr 6:111,738,662...111,894,087
Ensembl chr 6:111,738,662...111,894,087 		JBrowse link
G Esrrg estrogen-related receptor gamma ISO ClinVar Annotator: match by term: Premature ovarian insufficiency ClinVar PMID:25741868 NCBI chr13:101,699,043...102,316,877
Ensembl chr13:101,889,706...102,316,877 		JBrowse link
G Fanca FA complementation group A ISO DNA:SNPs, haplotypes: :multiple
ClinVar Annotator: match by term: Premature ovarian failure 		ClinVar
RGD		 PMID:25741868 PMID:28492532 PMID:24045675 RGD:11344888 NCBI chr19:68,210,562...68,271,080
Ensembl chr19:68,212,643...68,271,019 		JBrowse link
G Fancc FA complementation group C ISO ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 NCBI chr17:1,686,374...1,818,672
Ensembl chr17:1,687,017...1,835,096 		JBrowse link
G Fance FA complementation group E ISO RGD PMID:26939056 RGD:11344915 NCBI chr20:6,371,153...6,388,366
Ensembl chr20:6,377,234...6,388,365 		JBrowse link
G Fancf FA complementation group F ISS OMIM:300510 | OMIM:300511 | OMIM:300604 | OMIM:311360 | OMIM:608996 | OMIM:611548 | OMIM:612310 | OMIM:612964 | OMIM:615723 | OMIM:615724 MouseDO NCBI chr 1:110,585,054...110,587,870
Ensembl chr 1:110,576,389...110,587,863 		JBrowse link
G Fancl FA complementation group L ISO ClinVar Annotator: match by term: Premature ovarian insufficiency ClinVar PMID:19405097 PMID:23613520 PMID:24033266 PMID:25239263 PMID:25659033 More... NCBI chr14:104,449,403...104,515,297
Ensembl chr14:104,394,590...104,515,297 		JBrowse link
G Fmr1 fragile X messenger ribonucleoprotein 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Fragile x premature ovarian failure 		CTD
ClinVar		 PMID:12548733 PMID:25741868 NCBI chr  X:152,284,857...152,322,686
Ensembl chr  X:152,284,841...152,322,675 		JBrowse link
G Foxk2 forkhead box K2 ISO ClinVar Annotator: match by term: Premature ovarian insufficiency ClinVar PMID:25741868 PMID:28492532 NCBI chr10:107,040,933...107,090,860
Ensembl chr10:107,040,933...107,195,823 		JBrowse link
G Fyn FYN proto-oncogene, Src family tyrosine kinase ISO ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 NCBI chr20:44,322,635...44,514,498
Ensembl chr20:44,322,361...44,515,479 		JBrowse link
G Galt galactose-1-phosphate uridylyltransferase ISO ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:17876724 PMID:22461411 PMID:25741868 PMID:28492532 NCBI chr 5:61,722,871...61,726,128
Ensembl chr 5:61,722,466...61,726,125 		JBrowse link
G Gdf9 growth differentiation factor 9 ISO ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 NCBI chr10:38,090,021...38,100,801
Ensembl chr10:38,089,878...38,100,797 		JBrowse link
G Gli1 GLI family zinc finger 1 ISO ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 NCBI chr 7:65,042,237...65,054,888
Ensembl chr 7:65,042,237...65,054,540 		JBrowse link
G Grem1 gremlin 1, DAN family BMP antagonist ISO ClinVar Annotator: match by term: Premature ovarian insufficiency ClinVar PMID:25741868 NCBI chr 3:120,966,639...120,978,319
Ensembl chr 3:120,966,623...120,979,089 		JBrowse link
G Herc1 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 ISO ClinVar Annotator: match by term: Premature ovarian insufficiency ClinVar PMID:25741868 NCBI chr 8:75,796,347...75,965,347
Ensembl chr 8:75,796,357...75,965,347 		JBrowse link
G Hrob homologous recombination factor with OB-fold ISO ClinVar Annotator: match by term: Premature ovarian insufficiency ClinVar PMID:34707299 NCBI chr10:87,705,846...87,722,635
Ensembl chr10:87,706,194...87,722,635 		JBrowse link
G Igf2r insulin-like growth factor 2 receptor ISO ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 NCBI chr 1:50,526,878...50,615,265
Ensembl chr 1:50,526,878...50,615,265 		JBrowse link
G Igsf10 immunoglobulin superfamily, member 10 ISO ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 PMID:28492532 PMID:31042289 NCBI chr 2:145,725,868...145,754,850
Ensembl chr 2:145,725,878...145,754,579 		JBrowse link
G Inha inhibin subunit alpha ISO ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:24033266 PMID:25741868 NCBI chr 9:84,443,109...84,446,010
Ensembl chr 9:84,443,109...84,446,009 		JBrowse link
G Insl6 insulin-like 6 ISO ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 NCBI chr 1:236,483,530...236,487,065
Ensembl chr 1:236,483,530...236,487,065 		JBrowse link
G Jak2 Janus kinase 2 ISO ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 NCBI chr 1:236,408,905...236,468,769
Ensembl chr 1:236,408,662...236,468,762 		JBrowse link
G Kdr kinase insert domain receptor ISO ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:24728327 PMID:25741868 NCBI chr14:32,572,031...32,615,204
Ensembl chr14:32,572,049...32,615,192 		JBrowse link
G Khdrbs1 KH RNA binding domain containing, signal transduction associated 1 ISO ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 NCBI chr 5:147,337,048...147,374,604
Ensembl chr 5:147,347,904...147,373,448 		JBrowse link
G Lars2 leucyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 NCBI chr 8:131,887,728...131,983,866
Ensembl chr 8:131,887,753...131,983,866 		JBrowse link
G Lepr leptin receptor ISO ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 NCBI chr 5:121,409,735...121,593,201
Ensembl chr 5:121,474,099...121,591,215 		JBrowse link
G Lrrc41 leucine rich repeat containing 41 ISO ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 NCBI chr 5:134,791,256...134,812,177
Ensembl chr 5:134,791,256...134,812,177 		JBrowse link
G Mcm9 minichromosome maintenance 9 homologous recombination repair factor ISO ClinVar Annotator: match by term: Fragile x premature ovarian failure | ClinVar Annotator: match by term: Premature ovarian insufficiency ClinVar PMID:25480036 PMID:25741868 PMID:28492532 PMID:31042289 NCBI chr20:33,369,325...33,472,243
Ensembl chr20:33,387,611...33,472,243 		JBrowse link
G Mecom MDS1 and EVI1 complex locus ISO ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 NCBI chr 2:114,837,815...115,393,052
Ensembl chr 2:114,837,840...115,393,038 		JBrowse link
G Mlh3 mutL homolog 3 ISO ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:110,612,535...110,649,408
Ensembl chr 6:110,612,535...110,648,999 		JBrowse link
G Mov10 Mov10 RNA helicase ISO ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 NCBI chr 2:194,982,014...195,003,513
Ensembl chr 2:194,982,014...195,003,442 		JBrowse link
G Mre11 MRE11 homolog, double strand break repair nuclease ISO ClinVar Annotator: match by term: Premature ovarian insufficiency ClinVar PMID:25741868 PMID:28492532 PMID:30924587 NCBI chr 8:19,900,211...19,961,906
Ensembl chr 8:19,913,772...19,961,904 		JBrowse link
G Mrps22 mitochondrial ribosomal protein S22 ISO ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:29566152 PMID:31042289 NCBI chr 8:108,063,468...108,076,638
Ensembl chr 8:108,063,471...108,076,638 		JBrowse link
G Msh4 mutS homolog 4 ISO ClinVar Annotator: match by term: Premature ovarian insufficiency ClinVar PMID:25741868 PMID:33448284 NCBI chr 2:245,445,118...245,504,493
Ensembl chr 2:245,452,240...245,503,358 		JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor ISO ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 NCBI chr 7:95,483,105...95,488,031
Ensembl chr 7:95,483,105...95,488,028 		JBrowse link
G Nbn nibrin ISO ClinVar Annotator: match by term: Premature ovarian insufficiency ClinVar PMID:9590180 PMID:16415040 PMID:28492532 PMID:29706645 NCBI chr 5:34,256,678...34,291,163
Ensembl chr 5:34,256,627...34,291,162 		JBrowse link
G Nek8 NIMA-related kinase 8 ISO ClinVar Annotator: match by term: Premature ovarian insufficiency ClinVar PMID:23418306 PMID:25741868 PMID:26967905 PMID:28492532 NCBI chr10:63,558,940...63,570,954
Ensembl chr10:63,558,788...63,570,488 		JBrowse link
G Nfe2l2 NFE2 like bZIP transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26247513 NCBI chr 3:81,001,529...81,031,165
Ensembl chr 3:81,001,529...81,029,090 		JBrowse link
G Nobox NOBOX oogenesis homeobox ISO ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 NCBI chr 4:73,128,926...73,134,431
Ensembl chr 4:73,127,925...73,134,630 		JBrowse link
G Nos3 nitric oxide synthase 3 ISO ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 NCBI chr 4:11,686,088...11,706,604
Ensembl chr 4:11,686,268...11,706,664 		JBrowse link
G Notch2 notch receptor 2 ISO ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:188,299,336...188,432,823
Ensembl chr 2:188,299,336...188,432,823 		JBrowse link
G Nr5a1 nuclear receptor subfamily 5, group A, member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19246354 NCBI chr 3:42,874,505...42,896,109
Ensembl chr 3:42,875,221...42,896,046 		JBrowse link
G Nr5a2 nuclear receptor subfamily 5, group A, member 2 ISO ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 NCBI chr13:50,865,253...50,985,107
Ensembl chr13:50,867,920...50,984,938 		JBrowse link
G Ntrk1 neurotrophic receptor tyrosine kinase 1 ISO ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 PMID:28492532 PMID:34480478 NCBI chr 2:175,534,844...175,551,664
Ensembl chr 2:175,534,844...175,551,787 		JBrowse link
G Ntrk3 neurotrophic receptor tyrosine kinase 3 ISO ClinVar Annotator: match by term: Premature ovarian insufficiency ClinVar PMID:25741868 NCBI chr 1:141,526,192...141,913,575
Ensembl chr 1:141,542,569...141,913,004 		JBrowse link
G Nup107 nucleoporin 107 ISO ClinVar Annotator: match by term: Premature ovarian insufficiency ClinVar PMID:25741868 NCBI chr 7:55,239,610...55,285,050
Ensembl chr 7:55,239,613...55,285,234 		JBrowse link
G Nup155 nucleoporin 155 ISO ClinVar Annotator: match by term: Premature ovarian insufficiency ClinVar PMID:25741868 NCBI chr 2:58,927,171...58,980,162
Ensembl chr 2:58,928,537...58,981,242 		JBrowse link
G Padi6 peptidyl arginine deiminase 6 ISO ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:31042289 NCBI chr 5:158,304,118...158,320,508
Ensembl chr 5:158,304,921...158,320,508 		JBrowse link
G Pard3 par-3 family cell polarity regulator ISO ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 NCBI chr19:71,977,420...72,527,273
Ensembl chr19:71,977,470...72,526,941 		JBrowse link
G Pdgfd platelet derived growth factor D ISO ClinVar Annotator: match by term: Premature ovarian insufficiency ClinVar PMID:25741868 NCBI chr 8:11,773,335...12,007,277
Ensembl chr 8:11,773,475...12,007,271 		JBrowse link
G Pex6 peroxisomal biogenesis factor 6 ISO ClinVar Annotator: match by term: Premature ovarian insufficiency ClinVar PMID:19877282 PMID:25079577 PMID:25741868 PMID:28492532 PMID:32399598 NCBI chr 9:21,755,747...21,767,939
Ensembl chr 9:21,755,751...21,767,908 		JBrowse link
G Pmm2 phosphomannomutase 2 ISO ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:9140401 PMID:15844218 PMID:25355454 PMID:25497157 PMID:25741868 More... NCBI chr10:7,468,371...7,489,574
Ensembl chr10:7,468,372...7,489,554 		JBrowse link
G Pnpla7 patatin-like phospholipase domain containing 7 ISO ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:31042289 NCBI chr 3:28,180,670...28,259,673
Ensembl chr 3:28,180,751...28,259,672 		JBrowse link
G Pof1b POF1B, actin binding protein ISO ClinVar Annotator: match by term: Premature ovarian insufficiency ClinVar PMID:16773570 PMID:25741868 PMID:28492532 NCBI chr  X:81,875,348...81,942,046
Ensembl chr  X:81,875,348...81,941,906 		JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISO associated with Ophthalmoplegia, Chronic Progressive External;DNA:missense mutation:cds:p.Y955C(human)
ClinVar Annotator: match by term: Premature ovarian failure 		ClinVar
RGD		 PMID:14635118 PMID:25741868 PMID:27987238 PMID:16595552 RGD:8694202 NCBI chr 1:142,792,119...142,808,933
Ensembl chr 1:142,792,119...142,808,838 		JBrowse link
G Polr3h RNA polymerase III subunit H ISS MouseDO NCBI chr 7:115,309,571...115,319,881
Ensembl chr 7:115,309,589...115,319,915 		JBrowse link
G Por cytochrome p450 oxidoreductase ISO ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 NCBI chr12:26,587,674...26,655,612
Ensembl chr12:26,587,674...26,635,809 		JBrowse link
G Prepl prolyl endopeptidase-like ISO ClinVar Annotator: match by term: Premature ovarian insufficiency ClinVar PMID:25741868 NCBI chr 6:15,333,107...15,362,825
Ensembl chr 6:15,333,077...15,363,231 		JBrowse link
G Prim1 DNA primase subunit 1 ISO ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 NCBI chr 7:1,031,436...1,047,134 JBrowse link
G Prkd1 protein kinase D1 ISO ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:28492532 PMID:31042289 NCBI chr 6:73,460,640...73,774,433
Ensembl chr 6:73,460,640...73,836,509 		JBrowse link
G Prlr prolactin receptor ISO ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 NCBI chr 2:60,861,391...61,051,883
Ensembl chr 2:60,861,658...61,051,882 		JBrowse link
G Rad50 RAD50 double strand break repair protein ISO ClinVar Annotator: match by term: Premature ovarian insufficiency ClinVar PMID:16385572 PMID:25503501 PMID:25741868 PMID:26467025 PMID:28492532 More... NCBI chr10:38,310,147...38,362,100
Ensembl chr10:38,310,147...38,362,100 		JBrowse link
G Rad51c RAD51 paralog C ISO ClinVar Annotator: match by term: Premature ovarian failure | ClinVar Annotator: match by term: Premature ovarian insufficiency ClinVar PMID:21537932 PMID:22476429 PMID:22538716 PMID:23117857 PMID:25085752 More... NCBI chr10:72,702,299...72,728,980
Ensembl chr10:72,702,299...72,729,143 		JBrowse link
G Rad54l RAD54 like ISO ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 NCBI chr 5:134,812,158...134,841,821
Ensembl chr 5:134,811,532...134,841,425 		JBrowse link
G Rec8 REC8 meiotic recombination protein ISO ClinVar Annotator: match by term: Premature ovarian failure | ClinVar Annotator: match by term: Premature ovarian insufficiency ClinVar PMID:25741868 NCBI chr15:33,079,818...33,087,283
Ensembl chr15:33,079,801...33,087,282 		JBrowse link
G Rictor RPTOR independent companion of MTOR, complex 2 ISO ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 NCBI chr 2:57,539,279...57,631,291
Ensembl chr 2:57,539,311...57,631,288 		JBrowse link
G Rnf111 ring finger protein 111 ISS MouseDO NCBI chr 8:79,984,831...80,061,022
Ensembl chr 8:79,984,837...80,060,984 		JBrowse link
G Ryr3 ryanodine receptor 3 ISO ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 PMID:28492532 PMID:34480478 NCBI chr 3:119,886,129...120,433,465
Ensembl chr 3:119,885,878...120,433,677 		JBrowse link
G Sh2b1 SH2B adaptor protein 1 ISO ClinVar Annotator: match by term: Primary Ovarian Insufficiency ClinVar PMID:25741868 PMID:28492532 PMID:29631267 PMID:31439647 NCBI chr 1:190,479,211...190,492,030
Ensembl chr 1:190,478,940...190,487,169 		JBrowse link
G Sirt6 sirtuin 6 ISO ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 NCBI chr 7:8,733,056...8,738,543
Ensembl chr 7:8,732,974...8,738,542 		JBrowse link
G Slc3a1 solute carrier family 3 member 1 ISO ClinVar Annotator: match by term: Premature ovarian insufficiency ClinVar PMID:25741868 NCBI chr 6:15,361,037...15,396,695
Ensembl chr 6:15,361,046...15,394,775 		JBrowse link
G Smarcd2 SWI/SNF related BAF chromatin remodeling complex subunit D2 ISO ClinVar Annotator: match by term: Premature ovarian insufficiency ClinVar PMID:25741868 PMID:33025377 NCBI chr10:91,693,542...91,702,408
Ensembl chr10:91,693,542...91,702,522 		JBrowse link
G Sox3 SRY-box transcription factor 3 ISO ClinVar Annotator: match by term: Premature ovarian insufficiency ClinVar PMID:25741868 NCBI chr  X:144,344,892...144,346,971
Ensembl chr  X:144,344,892...144,346,987 		JBrowse link
G Ssh1 slingshot protein phosphatase 1 ISO ClinVar Annotator: match by term: Premature ovarian insufficiency ClinVar PMID:25741868 NCBI chr12:48,281,756...48,343,812
Ensembl chr12:48,281,756...48,343,812 		JBrowse link
G Stag1 STAG1 cohesin complex component ISO ClinVar Annotator: match by term: Premature ovarian insufficiency ClinVar PMID:25741868 NCBI chr 8:110,057,981...110,443,666
Ensembl chr 8:110,058,056...110,443,665 		JBrowse link
G Stag3 STAG3 cohesin complex component ISO ClinVar Annotator: match by term: Premature ovarian failure | ClinVar Annotator: match by term: Premature ovarian insufficiency ClinVar PMID:25741868 PMID:35176428 NCBI chr12:22,398,291...22,428,548
Ensembl chr12:22,398,295...22,428,557 		JBrowse link
G Tg thyroglobulin ISO ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:8094490 PMID:16187910 PMID:28492532 PMID:31042289 NCBI chr 7:100,307,349...100,492,246
Ensembl chr 7:100,307,349...100,314,539
Ensembl chr 7:100,307,349...100,314,539 		JBrowse link
G Thbs1 thrombospondin 1 ISO ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 NCBI chr 3:125,510,250...125,525,402
Ensembl chr 3:125,510,250...125,525,402 		JBrowse link
G Tp63 tumor protein p63 ISO ClinVar Annotator: match by term: Premature ovarian insufficiency ClinVar PMID:25741868 PMID:30924587 PMID:35801529 PMID:36856110 NCBI chr11:88,343,647...88,554,543
Ensembl chr11:88,343,651...88,554,177 		JBrowse link
G Ttc16 tetratricopeptide repeat domain 16 ISO ClinVar Annotator: match by term: Premature ovarian insufficiency ClinVar PMID:25741868 NCBI chr 3:36,450,271...36,462,590
Ensembl chr 3:36,446,272...36,462,368 		JBrowse link
G Ubr4 ubiquitin protein ligase E3 component n-recognin 4 ISO ClinVar Annotator: match by term: Premature ovarian insufficiency ClinVar PMID:25741868 NCBI chr 5:156,919,029...157,027,127
Ensembl chr 5:156,919,085...157,027,127 		JBrowse link
G Usp53 ubiquitin specific peptidase 53 ISO ClinVar Annotator: match by term: Premature ovarian insufficiency ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:213,744,106...213,805,619
Ensembl chr 2:213,744,106...213,790,544 		JBrowse link
G Whamm WASP homolog associated with actin, golgi membranes and microtubules ISO ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 NCBI chr 1:144,935,588...144,963,989
Ensembl chr 1:144,935,618...144,964,385 		JBrowse link
G Wt1 WT1 transcription factor ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Premature ovarian failure 		CTD
ClinVar		 PMID:25741868 PMID:26358501 NCBI chr 3:112,019,721...112,068,454
Ensembl chr 3:112,021,641...112,068,444 		JBrowse link
G Xpnpep2 X-prolyl aminopeptidase 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Premature ovarian failure 		CTD
ClinVar		 PMID:25568306 PMID:25741868 NCBI chr  X:132,165,696...132,194,937
Ensembl chr  X:132,165,701...132,195,126 		JBrowse link
G Xpo5 exportin 5 susceptibility ISO DNA:snps, haplotype:exon, 3' utr:c.3303C>T, c.*659A>C (rs2257082, rs11077) (human) RGD PMID:23549446 RGD:11041728 NCBI chr 9:22,237,760...22,275,745
Ensembl chr 9:22,237,760...22,275,745 		JBrowse link
G Zfp462 zinc finger protein 462 ISO ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 NCBI chr 5:74,465,383...74,606,020
Ensembl chr 5:74,468,643...74,606,020 		JBrowse link
MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ggps1 geranylgeranyl diphosphate synthase 1 ISO ClinVar Annotator: match by term: Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome OMIM
ClinVar		 PMID:25741868 PMID:32403198 PMID:35869884 NCBI chr17:55,958,750...55,982,762
Ensembl chr17:55,958,755...55,971,709 		JBrowse link
Premature Ovarian Failure 23 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fahd1 fumarylacetoacetate hydrolase domain containing 1 ISO ClinVar Annotator: match by term: Premature ovarian failure 23 ClinVar PMID:31000419 PMID:35991565 NCBI chr10:14,378,058...14,379,497
Ensembl chr10:14,378,120...14,379,867 		JBrowse link
G Meiob meiosis specific with OB-fold ISO ClinVar Annotator: match by term: MEIOB-related condition | ClinVar Annotator: match by term: Premature ovarian failure 23 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:30838384 PMID:31000419 PMID:34392356 More... NCBI chr10:14,336,869...14,369,566
Ensembl chr10:14,338,288...14,369,565 		JBrowse link
PREMATURE OVARIAN FAILURE 24 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sycp2l synaptonemal complex protein 2-like ISO ClinVar Annotator: match by term: Premature ovarian failure 24 ClinVar
OMIM		 PMID:32303603 NCBI chr17:23,798,424...23,851,017
Ensembl chr17:23,798,649...23,854,050 		JBrowse link
Premature Ovarian Failure 26 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mga MAX dimerization protein MGA ISO ClinVar Annotator: match by term: Premature ovarian failure 26 OMIM
ClinVar		 PMID:39545409 NCBI chr 3:127,300,558...127,396,694
Ensembl chr 3:127,328,264...127,394,826 		JBrowse link
Premature Ovarian Failure, Familial term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankrd31 ankyrin repeat domain 31 ISO ClinVar Annotator: match by term: Idiopathic familial premature ovarian failure ClinVar PMID:25741868 PMID:31003867 PMID:34257419 NCBI chr 2:29,793,882...29,987,621
Ensembl chr 2:29,813,940...29,977,149 		JBrowse link
G Six6os1 Six6 opposite strand transcript 1 ISO ClinVar Annotator: match by term: Idiopathic familial premature ovarian failure ClinVar PMID:25741868 NCBI chr 6:97,314,829...97,351,069
Ensembl chr 6:97,314,712...97,351,171 		JBrowse link
primary ovarian insufficiency 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fmr1 fragile X messenger ribonucleoprotein 1 ISO ClinVar Annotator: match by term: FMR1-Related Primary Ovarian Insufficiency ClinVar
OMIM
RGD		 PMID:25741868 PMID:22470123 RGD:12050152 NCBI chr  X:152,284,857...152,322,686
Ensembl chr  X:152,284,841...152,322,675 		JBrowse link
G Mcm9 minichromosome maintenance 9 homologous recombination repair factor ISO ClinVar Annotator: match by term: Premature ovarian failure 1 ClinVar PMID:25480036 PMID:25741868 PMID:31042289 NCBI chr20:33,369,325...33,472,243
Ensembl chr20:33,387,611...33,472,243 		JBrowse link
G Nobox NOBOX oogenesis homeobox ISO ClinVar Annotator: match by term: Premature ovarian failure 1 ClinVar PMID:21837770 PMID:24103315 PMID:25514101 PMID:25741868 PMID:25960166 More... NCBI chr 4:73,128,926...73,134,431
Ensembl chr 4:73,127,925...73,134,630 		JBrowse link
primary ovarian insufficiency 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mcm8 minichromosome maintenance 8 homologous recombination repair factor ISO ClinVar Annotator: match by term: MCM8-related condition | ClinVar Annotator: match by term: Premature ovarian failure 10 OMIM
ClinVar		 PMID:25437880 PMID:25741868 PMID:25873734 PMID:28492532 PMID:28863940 More... NCBI chr 3:140,539,590...140,569,891
Ensembl chr 3:140,539,647...140,569,891 		JBrowse link
primary ovarian insufficiency 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ercc6 ERCC excision repair 6, chromatin remodeling factor ISO ClinVar Annotator: match by term: Premature ovarian failure 11 ClinVar
OMIM		 PMID:887325 PMID:1339317 PMID:9150142 PMID:9443879 PMID:10196384 More... NCBI chr16:7,771,311...7,841,895
Ensembl chr16:7,771,581...7,841,895 		JBrowse link
primary ovarian insufficiency 12 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
ISS 		OMIM:616946
ClinVar Annotator: match by term: Premature ovarian failure 12 		OMIM
MouseDO
ClinVar		 PMID:25062452 PMID:32917591 NCBI chr 1:205,281,808...205,292,811
Ensembl chr 1:205,218,653...205,322,623 		JBrowse link
primary ovarian insufficiency 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Msh5 mutS homolog 5 ISO
ISS 		ClinVar Annotator: match by term: MSH5-related condition | ClinVar Annotator: match by term: Premature ovarian failure 13
OMIM:617442 		OMIM
ClinVar
MouseDO		 PMID:24033266 PMID:25741868 PMID:28175301 PMID:28492532 NCBI chr20:3,779,180...3,797,996
Ensembl chr20:3,781,578...3,797,994 		JBrowse link
primary ovarian insufficiency 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gdf9 growth differentiation factor 9 ISO ClinVar Annotator: match by term: GDF9-related condition | ClinVar Annotator: match by term: Premature ovarian failure 14 OMIM
ClinVar		 PMID:25741868 PMID:29044499 PMID:33036707 PMID:34008892 NCBI chr10:38,090,021...38,100,801
Ensembl chr10:38,089,878...38,100,797 		JBrowse link
primary ovarian insufficiency 15 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: FANCM-related condition | ClinVar Annotator: match by term: PREMATURE OVARIAN FAILURE 15 | ClinVar Annotator: match by term: Premature ovarian failure 15 OMIM
ClinVar		 PMID:9536098 PMID:17289582 PMID:17576681 PMID:18174376 PMID:19379763 More... NCBI chr 6:88,862,898...88,916,701
Ensembl chr 6:88,863,306...88,921,652 		JBrowse link
primary ovarian insufficiency 16 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amh anti-Mullerian hormone ISO ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure ClinVar NCBI chr 7:9,557,451...9,559,867
Ensembl chr 7:9,557,451...9,559,867 		JBrowse link
G Amhr2 anti-Mullerian hormone receptor type 2 ISO ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure ClinVar NCBI chr 7:135,454,517...135,470,183
Ensembl chr 7:135,457,922...135,471,104 		JBrowse link
G Ankrd31 ankyrin repeat domain 31 ISO ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure ClinVar PMID:25741868 NCBI chr 2:29,793,882...29,987,621
Ensembl chr 2:29,813,940...29,977,149 		JBrowse link
G Bmp15 bone morphogenetic protein 15 ISO ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure ClinVar NCBI chr  X:18,840,943...18,846,006
Ensembl chr  X:18,840,829...18,847,438 		JBrowse link
G Bmpr2 bone morphogenetic protein receptor type 2 ISO ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure ClinVar PMID:18356561 PMID:19555857 PMID:20002458 PMID:20534176 PMID:21737554 More... NCBI chr 9:68,685,942...68,801,353
Ensembl chr 9:68,685,988...68,801,350 		JBrowse link
G Bnc1 basonuclin zinc finger protein 1 ISO ClinVar Annotator: match by term: Premature ovarian failure 16 OMIM
ClinVar		 PMID:10909 PMID:25741868 NCBI chr 1:145,326,881...145,352,534
Ensembl chr 1:145,326,892...145,353,510 		JBrowse link
G Brca2 BRCA2, DNA repair associated ISO ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure ClinVar PMID:11802209 PMID:12601471 PMID:15131399 PMID:15290653 PMID:16683254 More... NCBI chr12:4,895,092...4,939,340
Ensembl chr12:4,895,447...4,936,194 		JBrowse link
G Brip1 BRCA1 interacting DNA helicase 1 ISO ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure ClinVar PMID:25741868 PMID:28492532 PMID:32091409 PMID:33471991 PMID:34326862 More... NCBI chr10:71,402,035...71,528,083
Ensembl chr10:71,401,151...71,575,206 		JBrowse link
G Ercc6 ERCC excision repair 6, chromatin remodeling factor ISO ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure ClinVar PMID:25741868 PMID:28492532 NCBI chr16:7,771,311...7,841,895
Ensembl chr16:7,771,581...7,841,895 		JBrowse link
G Figla folliculogenesis specific bHLH transcription factor ISO ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure ClinVar PMID:25741868 NCBI chr 4:119,989,983...119,994,217
Ensembl chr 4:119,990,032...119,995,157 		JBrowse link
G Foxl2 forkhead box L2 ISO ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure ClinVar PMID:24728327 NCBI chr 8:108,392,466...108,395,553
Ensembl chr 8:108,382,872...108,396,835 		JBrowse link
G Fshr follicle stimulating hormone receptor ISO ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure ClinVar NCBI chr 6:10,952,329...11,160,288
Ensembl chr 6:10,952,329...11,160,288 		JBrowse link
G Gdf9 growth differentiation factor 9 ISO ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure ClinVar PMID:25741868 NCBI chr10:38,090,021...38,100,801
Ensembl chr10:38,089,878...38,100,797 		JBrowse link
G Hfm1 helicase for meiosis 1 ISO ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure ClinVar NCBI chr14:3,002,103...3,108,567
Ensembl chr14:3,001,906...3,084,401 		JBrowse link
G Kash5 KASH domain containing 5 ISO ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure ClinVar PMID:25741868 PMID:35708642 NCBI chr 1:104,805,248...104,827,720
Ensembl chr 1:104,804,535...104,827,802 		JBrowse link
G Msh4 mutS homolog 4 ISO ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure ClinVar PMID:35090489 NCBI chr 2:245,445,118...245,504,493
Ensembl chr 2:245,452,240...245,503,358 		JBrowse link
G Msh5 mutS homolog 5 ISO ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure ClinVar PMID:25741868 NCBI chr20:3,779,180...3,797,996
Ensembl chr20:3,781,578...3,797,994 		JBrowse link
G Nobox NOBOX oogenesis homeobox ISO ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure ClinVar PMID:17701902 NCBI chr 4:73,128,926...73,134,431
Ensembl chr 4:73,127,925...73,134,630 		JBrowse link
G Nr5a1 nuclear receptor subfamily 5, group A, member 1 ISO ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure ClinVar PMID:22028768 PMID:22907560 PMID:25122490 PMID:25741868 PMID:27169744 More... NCBI chr 3:42,874,505...42,896,109
Ensembl chr 3:42,875,221...42,896,046 		JBrowse link
G Pgrmc1 progesterone receptor membrane component 1 ISO ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure ClinVar PMID:25741868 NCBI chr  X:120,698,610...120,706,805
Ensembl chr  X:120,698,610...120,706,805 		JBrowse link
G Polr2c RNA polymerase II subunit C ISO ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure ClinVar NCBI chr19:10,164,148...10,170,930
Ensembl chr19:10,164,145...10,170,971 		JBrowse link
G Prdm9 PR/SET domain 9 ISO ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure ClinVar PMID:25741868 NCBI chr 1:65,178,666...65,198,851
Ensembl chr 1:65,178,666...65,198,737 		JBrowse link
G Smc1b structural maintenance of chromosomes 1B ISO ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure ClinVar NCBI chr 7:118,060,898...118,122,683
Ensembl chr 7:118,060,156...118,122,648 		JBrowse link
G Sohlh1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 ISO ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure ClinVar NCBI chr 3:29,061,267...29,065,588
Ensembl chr 3:29,061,267...29,065,588 		JBrowse link
G Spidr scaffold protein involved in DNA repair ISO ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure ClinVar NCBI chr11:98,270,779...98,511,760
Ensembl chr11:98,270,224...98,528,748 		JBrowse link
primary ovarian insufficiency 17 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Xrcc2 X-ray repair cross complementing 2 ISO ClinVar Annotator: match by term: Premature ovarian failure 17 OMIM
ClinVar		 PMID:22464251 PMID:23054243 PMID:25741868 PMID:26689913 PMID:27233470 More... NCBI chr 4:10,157,130...10,237,089
Ensembl chr 4:10,157,800...10,176,407 		JBrowse link
primary ovarian insufficiency 18 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Six6os1 Six6 opposite strand transcript 1 ISO ClinVar Annotator: match by term: Premature ovarian failure 18 OMIM
ClinVar		 PMID:33508233 NCBI chr 6:97,314,829...97,351,069
Ensembl chr 6:97,314,712...97,351,171 		JBrowse link
primary ovarian insufficiency 19 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Brme1 break repair meiotic recombinase recruitment factor 1 ISO ClinVar Annotator: match by term: Premature ovarian failure 19 ClinVar PMID:24033266 PMID:25066123 PMID:25741868 NCBI chr19:40,894,821...40,916,506
Ensembl chr19:40,894,100...40,916,546 		JBrowse link
G Cc2d1a coiled-coil and C2 domain containing 1A ISO ClinVar Annotator: match by term: Premature ovarian failure 19 ClinVar PMID:24033266 PMID:25066123 PMID:25741868 NCBI chr19:40,916,587...40,931,702
Ensembl chr19:40,916,532...40,931,701 		JBrowse link
G Hsf2bp heat shock transcription factor 2 binding protein ISO
ISS 		OMIM:619245
ClinVar Annotator: match by term: Premature ovarian failure 19 		OMIM
MouseDO
ClinVar		 PMID:25741868 PMID:32845237 NCBI chr20:10,035,263...10,121,262
Ensembl chr20:10,035,263...10,121,826 		JBrowse link
Primary Ovarian Insufficiency 20 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Msh4 mutS homolog 4 ISO ClinVar Annotator: match by term: Premature ovarian failure 20 OMIM
ClinVar		 PMID:25741868 PMID:28541421 PMID:33448284 PMID:34755185 NCBI chr 2:245,445,118...245,504,493
Ensembl chr 2:245,452,240...245,503,358 		JBrowse link
Primary Ovarian Insufficiency 21 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tp63 tumor protein p63 ISO ClinVar Annotator: match by term: Premature ovarian failure 21 OMIM
ClinVar		 PMID:10535733 PMID:10839977 PMID:11462173 PMID:12161593 PMID:12445213 More... NCBI chr11:88,343,647...88,554,543
Ensembl chr11:88,343,651...88,554,177 		JBrowse link
Primary Ovarian Insufficiency 22 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kash5 KASH domain containing 5 ISO ClinVar Annotator: match by term: Premature ovarian failure 22 OMIM
ClinVar		 PMID:25741868 PMID:35587281 PMID:35708642 PMID:36864840 NCBI chr 1:104,805,248...104,827,720
Ensembl chr 1:104,804,535...104,827,802 		JBrowse link
Primary Ovarian Insufficiency 25 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Spata22 spermatogenesis associated 22 ISO ClinVar Annotator: match by term: Premature ovarian failure 25 OMIM
ClinVar		 PMID:35285020 NCBI chr10:58,443,736...58,461,578
Ensembl chr10:58,417,415...58,461,908 		JBrowse link
primary ovarian insufficiency 2A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Diaph2 diaphanous-related formin 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: DIAPH2-related condition | ClinVar Annotator: match by term: Premature ovarian failure 2A 		OMIM
CTD
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr  X:96,700,535...97,528,080
Ensembl chr  X:96,700,726...97,528,080 		JBrowse link
primary ovarian insufficiency 2B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pof1b POF1B, actin binding protein ISO ClinVar Annotator: match by term: POF1B-related condition | ClinVar Annotator: match by term: Premature ovarian failure 2B
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:15459172 PMID:16773570 PMID:25741868 PMID:28492532 NCBI chr  X:81,875,348...81,942,046
Ensembl chr  X:81,875,348...81,941,906 		JBrowse link
G Zfp711 zinc finger protein 711 ISO ClinVar Annotator: match by term: Premature ovarian failure 2B ClinVar PMID:25741868 NCBI chr  X:81,838,483...81,871,767
Ensembl chr  X:81,838,620...81,871,784 		JBrowse link
primary ovarian insufficiency 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ago2 argonaute RISC catalytic component 2 ISO ClinVar Annotator: match by term: Premature ovarian failure 3 ClinVar PMID:25741868 PMID:33199684 NCBI chr 7:106,907,209...106,994,124
Ensembl chr 7:106,918,125...106,993,980 		JBrowse link
G Foxl2 forkhead box L2 ISO ClinVar Annotator: match by term: Premature ovarian failure 3
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:12149404 PMID:12161610 PMID:12529855 PMID:18635577 PMID:19429596 More... NCBI chr 8:108,392,466...108,395,553
Ensembl chr 8:108,382,872...108,396,835 		JBrowse link
primary ovarian insufficiency 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nobox NOBOX oogenesis homeobox ISO ClinVar Annotator: match by term: Premature ovarian failure 5
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:17701902 PMID:18930203 PMID:21837770 PMID:24103315 PMID:25514101 More... NCBI chr 4:73,128,926...73,134,431
Ensembl chr 4:73,127,925...73,134,630 		JBrowse link
primary ovarian insufficiency 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Figla folliculogenesis specific bHLH transcription factor ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Premature ovarian failure 6 		OMIM
CTD
ClinVar		 PMID:18499083 PMID:25314148 PMID:25741868 PMID:29914564 PMID:30474133 NCBI chr 4:119,989,983...119,994,217
Ensembl chr 4:119,990,032...119,995,157 		JBrowse link
primary ovarian insufficiency 7 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 term: ADRENAL INSUFFICIENCY, NR5A1-RELATED | ClinVar Annotator: match by term: Premature ovarian failure 7
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:11038323 PMID:11932325 PMID:17940071 PMID:19246354 PMID:25741868 More... NCBI chr 3:42,874,505...42,896,109
Ensembl chr 3:42,875,221...42,896,046 		JBrowse link
primary ovarian insufficiency 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Stag3 STAG3 cohesin complex component ISO ClinVar Annotator: match by term: Premature ovarian failure 8 | ClinVar Annotator: match by term: STAG3-related condition OMIM
ClinVar		 PMID:24597867 PMID:25741868 PMID:28393351 PMID:28492532 PMID:30006057 NCBI chr12:22,398,291...22,428,548
Ensembl chr12:22,398,295...22,428,557 		JBrowse link
primary ovarian insufficiency 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hfm1 helicase for meiosis 1 ISO ClinVar Annotator: match by term: HFM1-related condition | ClinVar Annotator: match by term: Premature ovarian failure 9 OMIM
ClinVar		 PMID:24597873 PMID:25741868 NCBI chr14:3,002,103...3,108,567
Ensembl chr14:3,001,906...3,084,401 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19149
    disease of anatomical entity 18457
      endocrine system disease 7053
        gonadal disease 1397
          ovarian disease 1075
            Primary Ovarian Failure 177
              primary ovarian insufficiency 162
                MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME 1
                Osteosclerosis with Ichthyosis and Premature Ovarian Failure 0
                Premature Ovarian Failure, Familial + 6
                Primary Ovarian Insufficiency 20 1
                Primary Ovarian Insufficiency 21 1
                Primary Ovarian Insufficiency 22 1
                Primary Ovarian Insufficiency 25 1
                primary ovarian insufficiency 1 3
                primary ovarian insufficiency 10 1
                primary ovarian insufficiency 11 1
                primary ovarian insufficiency 12 1
                primary ovarian insufficiency 13 1
                primary ovarian insufficiency 14 1
                primary ovarian insufficiency 15 1
                primary ovarian insufficiency 16 25
                primary ovarian insufficiency 17 1
                primary ovarian insufficiency 18 1
                primary ovarian insufficiency 19 3
                primary ovarian insufficiency 2A 1
                primary ovarian insufficiency 2B 2
                primary ovarian insufficiency 3 2
                primary ovarian insufficiency 4 0
                primary ovarian insufficiency 5 1
                primary ovarian insufficiency 6 1
                primary ovarian insufficiency 7 1
                primary ovarian insufficiency 8 1
                primary ovarian insufficiency 9 1
Path 2
Term Annotations click to browse term
  disease 19149
    disease of anatomical entity 18457
      Urogenital Diseases 5414
        Female Urogenital Diseases and Pregnancy Complications 2690
          Female Urogenital Diseases 2199
            female reproductive system disease 2196
              Adnexal Diseases 1084
                ovarian disease 1075
                  Primary Ovarian Failure 177
                    primary ovarian insufficiency 162
                      MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME 1
                      Osteosclerosis with Ichthyosis and Premature Ovarian Failure 0
                      Premature Ovarian Failure, Familial + 6
                      Primary Ovarian Insufficiency 20 1
                      Primary Ovarian Insufficiency 21 1
                      Primary Ovarian Insufficiency 22 1
                      Primary Ovarian Insufficiency 25 1
                      primary ovarian insufficiency 1 3
                      primary ovarian insufficiency 10 1
                      primary ovarian insufficiency 11 1
                      primary ovarian insufficiency 12 1
                      primary ovarian insufficiency 13 1
                      primary ovarian insufficiency 14 1
                      primary ovarian insufficiency 15 1
                      primary ovarian insufficiency 16 25
                      primary ovarian insufficiency 17 1
                      primary ovarian insufficiency 18 1
                      primary ovarian insufficiency 19 3
                      primary ovarian insufficiency 2A 1
                      primary ovarian insufficiency 2B 2
                      primary ovarian insufficiency 3 2
                      primary ovarian insufficiency 4 0
                      primary ovarian insufficiency 5 1
                      primary ovarian insufficiency 6 1
                      primary ovarian insufficiency 7 1
                      primary ovarian insufficiency 8 1
                      primary ovarian insufficiency 9 1
paths to the root