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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;   NCI:C113352;   OMIM:PS311360;   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 2:144,163,436...144,186,086
Ensembl chr 2:144,135,319...144,174,734 		JBrowse link
G Ackr3 atypical chemokine receptor 3 ISO ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 NCBI chr 9:90,799,682...90,811,246
Ensembl chr 9:90,799,686...90,811,237 		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 chr11:24,932,227...24,941,068
Ensembl chr11:24,931,761...24,941,103 		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 chr11:25,000,627...25,047,205
Ensembl chr11:25,000,637...25,047,205 		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 2:35,421,483...35,633,305
Ensembl chr 2:35,421,510...35,633,298 		JBrowse link
G Aff2 ALF transcription elongation factor 2 ISO ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 NCBI chr  X:147,928,130...148,432,484
Ensembl chr  X:147,928,407...148,429,995 		JBrowse link
G Afp alpha-fetoprotein ISO ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 NCBI chr14:17,573,412...17,591,476
Ensembl chr14:17,573,412...17,591,480 		JBrowse link
G Amhr2 anti-Mullerian hormone receptor type 2 ISO ClinVar Annotator: match by term: Premature ovarian insufficiency ClinVar PMID:25741868 NCBI chr 7:133,579,152...133,588,874
Ensembl chr 7:133,579,393...133,588,258 		JBrowse link
G Aopep aminopeptidase O ISO ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 NCBI chr17:1,811,281...2,127,316
Ensembl chr17:1,811,980...2,127,331 		JBrowse link
G Atg2a autophagy related 2A ISO ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 NCBI chr 1:203,542,559...203,562,242
Ensembl chr 1:203,542,559...203,562,242 		JBrowse link
G Atg7 autophagy related 7 ISO ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 NCBI chr 4:147,718,663...147,925,656
Ensembl chr 4:147,718,752...147,925,593 		JBrowse link
G Atg9b autophagy related 9B ISO ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 NCBI chr 4:10,784,934...10,793,832
Ensembl chr 4:10,786,114...10,793,651 		JBrowse link
G Bbs9 Bardet-Biedl syndrome 9 susceptibility ISO DNA:SNPs,haplotypes: : RGD PMID:18349106 RGD:9684994 NCBI chr 8:21,013,865...21,437,934
Ensembl chr 8:21,013,944...21,437,930 		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 1:167,331,756...167,430,235
Ensembl chr 1:167,331,633...167,430,231 		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:16,169,123...16,174,187
Ensembl chr  X:16,169,123...16,174,187 		JBrowse link
G Bmp6 bone morphogenetic protein 6 ISO ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 NCBI chr17:26,318,121...26,469,691
Ensembl chr17:26,318,569...26,470,365 		JBrowse link
G Bmpr1b bone morphogenetic protein receptor type 1B ISO ClinVar Annotator: match by term: Premature ovarian insufficiency ClinVar PMID:25741868 NCBI chr 2:230,538,252...230,871,077
Ensembl chr 2:230,541,558...230,871,368 		JBrowse link
G Bnc1 basonuclin zinc finger protein 1 ISO ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 NCBI chr 1:135,917,676...135,943,333
Ensembl chr 1:135,917,687...135,943,333 		JBrowse link
G Brd3 bromodomain containing 3 ISO ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 NCBI chr 3:10,773,163...10,829,675
Ensembl chr 3:10,775,272...10,829,577 		JBrowse link
G Brdt bromodomain testis associated ISO ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 NCBI chr14:2,387,372...2,445,857
Ensembl chr14:2,387,796...2,445,842 		JBrowse link
G Brwd1 bromodomain and WD repeat domain containing 1 ISO ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 NCBI chr11:35,286,364...35,378,768
Ensembl chr11:35,288,313...35,378,768 		JBrowse link
G C3 complement C3 ISO ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 PMID:28492532 PMID:31042289 NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429 		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 chr13:47,723,251...47,802,606
Ensembl chr13:47,723,121...47,802,597 		JBrowse link
G Ccnt2 cyclin T2 ISO ClinVar Annotator: match by term: Premature ovarian insufficiency ClinVar PMID:25741868 NCBI chr13:39,251,573...39,293,172
Ensembl chr13:39,251,573...39,292,019 		JBrowse link
G Cdc7 cell division cycle 7 ISO ClinVar Annotator: match by term: Premature ovarian insufficiency ClinVar PMID:25741868 NCBI chr14:2,804,660...2,824,796
Ensembl chr14:2,804,661...2,824,778 		JBrowse link
G Cenpi centromere protein I ISO ClinVar Annotator: match by term: Premature ovarian insufficiency ClinVar PMID:25741868 NCBI chr  X:97,515,919...97,567,671
Ensembl chr  X:97,515,972...97,567,657 		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 5:21,812,007...21,995,358
Ensembl chr 5:21,812,070...21,995,358 		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 chr12:45,788,823...45,821,382
Ensembl chr12:45,788,827...45,821,286 		JBrowse link
G Ckb creatine kinase B ISO ClinVar Annotator: match by term: Premature ovarian insufficiency ClinVar PMID:25741868 NCBI chr 6:130,729,420...130,732,301
Ensembl chr 6:130,729,423...130,732,315 		JBrowse link
G Crocc ciliary rootlet coiled-coil, rootletin ISO ClinVar Annotator: match by term: Premature ovarian insufficiency ClinVar PMID:25741868 NCBI chr 5:153,320,962...153,363,734
Ensembl chr 5:153,320,962...153,363,578 		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 1:245,535,462...245,543,148
Ensembl chr 1:245,535,462...245,541,573 		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 8:54,552,978...54,580,375
Ensembl chr 8:54,553,165...54,580,758 		JBrowse link
G Cyp2c6 cytochrome P450, family 2, subfamily C, polypeptide 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15248218 NCBI chr 1:237,938,521...237,976,238
Ensembl chr 1:237,693,094...238,057,596 		JBrowse link
G Ddi1 DNA-damage inducible 1 homolog 1 ISO ClinVar Annotator: match by term: Premature ovarian insufficiency ClinVar PMID:25741868 NCBI chr 8:3,596,658...3,598,505
Ensembl chr 8:3,595,149...3,598,533 		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:92,395,189...93,234,521
Ensembl chr  X:92,395,251...93,229,869 		JBrowse link
G Dmc1 DNA meiotic recombinase 1 ISO ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 NCBI chr 7:111,124,888...111,167,465
Ensembl chr 7:111,124,888...111,167,952 		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 1:223,244,340...223,264,254
Ensembl chr 1:223,248,747...223,262,530 		JBrowse link
G Dnah1 dynein, axonemal, heavy chain 1 ISO ClinVar Annotator: match by term: Premature ovarian insufficiency ClinVar PMID:25741868 PMID:28492532 NCBI chr16:6,455,514...6,517,103
Ensembl chr16:6,456,002...6,518,350 		JBrowse link
G Dnah6 dynein, axonemal, heavy chain 6 ISO ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 NCBI chr 4:105,064,123...105,284,361
Ensembl chr 4:105,064,125...105,284,376 		JBrowse link
G Dppa2 developmental pluripotency-associated 2 ISO ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 NCBI chr11:52,549,024...52,556,740 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:21560189 PMID:22992991 More... NCBI chr 6:104,866,926...104,873,351
Ensembl chr 6:104,866,753...104,873,353 		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 chr17:1,076,486...1,311,281
Ensembl chr17:1,216,428...1,310,275 		JBrowse link
G Esrrb estrogen-related receptor beta ISO ClinVar Annotator: match by term: Premature ovarian insufficiency ClinVar PMID:25741868 NCBI chr 6:106,007,701...106,163,136
Ensembl chr 6:106,008,095...106,160,791 		JBrowse link
G Esrrg estrogen-related receptor gamma ISO ClinVar Annotator: match by term: Premature ovarian insufficiency ClinVar PMID:25741868 NCBI chr13:99,167,656...99,788,016
Ensembl chr13:99,564,669...99,783,397 		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:28687356 PMID:28767289 PMID:33762291 More... RGD:11344888 NCBI chr19:51,304,126...51,362,586
Ensembl chr19:51,304,021...51,362,527 		JBrowse link
G Fancc FA complementation group C ISO ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 NCBI chr17:1,680,660...1,822,610
Ensembl chr17:1,681,324...1,829,376 		JBrowse link
G Fance FA complementation group E ISO RGD PMID:26939056 RGD:11344915 NCBI chr20:6,369,416...6,386,631
Ensembl chr20:6,375,573...6,386,631 		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 1:101,449,120...101,451,936
Ensembl chr 1:101,450,389...101,451,923 		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 chr14:100,249,733...100,317,958
Ensembl chr14:100,248,875...100,314,255 		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:147,240,239...147,278,057
Ensembl chr  X:147,240,301...147,278,050 		JBrowse link
G Foxk2 forkhead box K2 ISO ClinVar Annotator: match by term: Premature ovarian insufficiency ClinVar PMID:25741868 PMID:28492532 NCBI chr10:106,542,643...106,592,569
Ensembl chr10:106,542,566...106,592,563 		JBrowse link
G Foxl2 forkhead box L2 ISO ClinVar Annotator: match by term: Premature ovarian insufficiency ClinVar PMID:25741868 NCBI chr 8:99,512,971...99,514,500
Ensembl chr 8:99,513,303...99,514,427 		JBrowse link
G Fyn FYN proto-oncogene, Src family tyrosine kinase ISO ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 NCBI chr20:42,767,733...42,960,903
Ensembl chr20:42,766,369...42,959,911 		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 5:56,927,039...56,930,284
Ensembl chr 5:56,926,724...56,930,265 		JBrowse link
G Gdf9 growth differentiation factor 9 ISO ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 NCBI chr10:37,589,200...37,599,970
Ensembl chr10:37,595,679...37,599,672 		JBrowse link
G Gli1 GLI family zinc finger 1 ISO ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 NCBI chr 7:63,156,926...63,169,579
Ensembl chr 7:63,156,926...63,169,251 		JBrowse link
G Grem1 gremlin 1, DAN family BMP antagonist ISO ClinVar Annotator: match by term: Premature ovarian insufficiency ClinVar PMID:25741868 NCBI chr 3:100,512,317...100,524,001
Ensembl chr 3:100,512,313...100,524,082 		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 8:66,857,169...67,070,318
Ensembl chr 8:66,856,935...67,070,312 		JBrowse link
G Hrob homologous recombination factor with OB-fold ISO ClinVar Annotator: match by term: Premature ovarian insufficiency ClinVar NCBI chr10:87,206,017...87,222,483
Ensembl chr10:87,206,049...87,222,483 		JBrowse link
G Igf2r insulin-like growth factor 2 receptor ISO ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 NCBI chr 1:47,979,109...48,067,501
Ensembl chr 1:47,979,109...48,067,501 		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 2:143,575,710...143,605,044
Ensembl chr 2:143,576,070...143,604,773 		JBrowse link
G Inha inhibin subunit alpha ISO ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:24033266 PMID:25741868 NCBI chr 9:76,994,465...76,997,366
Ensembl chr 9:76,993,589...76,997,248 		JBrowse link
G Insl6 insulin-like 6 ISO ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 NCBI chr 1:227,069,958...227,073,493
Ensembl chr 1:227,069,958...227,073,493 		JBrowse link
G Jak2 Janus kinase 2 ISO ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189 		JBrowse link
G Kdr kinase insert domain receptor ISO ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:24728327 PMID:25741868 NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018 		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 5:142,051,844...142,089,175
Ensembl chr 5:142,063,570...142,089,180 		JBrowse link
G Lars2 leucyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 NCBI chr 8:123,010,271...123,106,395
Ensembl chr 8:123,010,293...123,106,395 		JBrowse link
G Lepr leptin receptor ISO ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908 		JBrowse link
G Lrrc41 leucine rich repeat containing 41 ISO ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 NCBI chr 5:129,554,547...129,575,450
Ensembl chr 5:129,554,547...129,575,449 		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 chr20:32,818,219...32,929,577
Ensembl chr20:32,844,951...32,929,600 		JBrowse link
G Mecom MDS1 and EVI1 complex locus ISO ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 NCBI chr 2:112,909,353...113,464,583
Ensembl chr 2:112,909,321...113,464,590 		JBrowse link
G Mlh3 mutL homolog 3 ISO ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:104,881,483...104,917,686
Ensembl chr 6:104,881,483...104,917,728 		JBrowse link
G Mov10 Mov10 RNA helicase ISO ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 NCBI chr 2:192,292,041...192,315,142
Ensembl chr 2:192,293,470...192,315,083 		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 8:11,618,876...11,680,451
Ensembl chr 8:11,632,354...11,678,279 		JBrowse link
G Mrps22 mitochondrial ribosomal protein S22 ISO ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:29566152 PMID:31042289 NCBI chr 8:99,184,110...99,197,278
Ensembl chr 8:99,184,109...99,197,291 		JBrowse link
G Msh4 mutS homolog 4 ISO ClinVar Annotator: match by term: Premature ovarian insufficiency ClinVar PMID:25741868 PMID:33448284 NCBI chr 2:242,785,392...242,844,609
Ensembl chr 2:242,792,661...242,843,487 		JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor ISO ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 NCBI chr 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630 		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 5:29,459,574...29,494,152
Ensembl chr 5:29,459,457...29,494,150 		JBrowse link
G Nek8 NIMA-related kinase 8 ISO ClinVar Annotator: match by term: Premature ovarian insufficiency ClinVar PMID:23418306 PMID:25741868 PMID:28492532 NCBI chr10:63,060,868...63,073,546
Ensembl chr10:63,061,253...63,072,416 		JBrowse link
G Nfe2l2 NFE2 like bZIP transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26247513 NCBI chr 3:60,594,239...60,621,712
Ensembl chr 3:60,594,242...60,621,737 		JBrowse link
G Nobox NOBOX oogenesis homeobox ISO ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 NCBI chr 4:72,128,931...72,134,436
Ensembl chr 4:72,128,931...72,134,436 		JBrowse link
G Nos3 nitric oxide synthase 3 ISO ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166 		JBrowse link
G Notch2 notch receptor 2 ISO ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:185,610,594...185,744,088
Ensembl chr 2:185,610,589...185,744,088 		JBrowse link
G Nr5a1 nuclear receptor subfamily 5, group A, member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19246354 NCBI chr 3:22,464,786...22,486,328
Ensembl chr 3:22,465,502...22,486,328 		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 chr13:48,313,634...48,433,494
Ensembl chr13:48,316,301...48,433,326 		JBrowse link
G Ntrk1 neurotrophic receptor tyrosine kinase 1 ISO ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:173,236,961...173,253,806
Ensembl chr 2:173,236,963...173,253,770 		JBrowse link
G Ntrk3 neurotrophic receptor tyrosine kinase 3 ISO ClinVar Annotator: match by term: Premature ovarian insufficiency ClinVar PMID:25741868 NCBI chr 1:132,116,472...132,503,849
Ensembl chr 1:132,132,849...132,503,286 		JBrowse link
G Nup107 nucleoporin 107 ISO ClinVar Annotator: match by term: Premature ovarian insufficiency ClinVar PMID:25741868 NCBI chr 7:53,353,740...53,398,345
Ensembl chr 7:53,353,743...53,398,370 		JBrowse link
G Nup155 nucleoporin 155 ISO ClinVar Annotator: match by term: Premature ovarian insufficiency ClinVar PMID:25741868 NCBI chr 2:57,201,310...57,252,918
Ensembl chr 2:57,201,272...57,254,148 		JBrowse link
G Padi6 peptidyl arginine deiminase 6 ISO ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:31042289 NCBI chr 5:153,021,855...153,037,443
Ensembl chr 5:153,021,965...153,037,414 		JBrowse link
G Pard3 par-3 family cell polarity regulator ISO ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 NCBI chr19:55,080,282...55,630,111
Ensembl chr19:55,080,282...55,629,778 		JBrowse link
G Pdgfd platelet derived growth factor D ISO ClinVar Annotator: match by term: Premature ovarian insufficiency ClinVar PMID:25741868 NCBI chr 8:3,488,448...3,722,395
Ensembl chr 8:3,488,423...3,722,395 		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 9:14,258,145...14,270,335
Ensembl chr 9:14,258,145...14,270,303 		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 chr10:6,961,521...6,982,913
Ensembl chr10:6,961,709...6,983,098 		JBrowse link
G Pnpla7 patatin-like phospholipase domain containing 7 ISO ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:31042289 NCBI chr 3:7,782,572...7,861,504
Ensembl chr 3:7,782,572...7,861,497 		JBrowse link
G Pof1b POF1B, actin binding protein ISO ClinVar Annotator: match by term: Premature ovarian insufficiency ClinVar PMID:15459172 PMID:16773570 PMID:21940798 PMID:25676666 PMID:25741868 More... NCBI chr  X:77,683,128...77,749,827
Ensembl chr  X:77,683,128...77,749,688 		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 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567 		JBrowse link
G Polr3h RNA polymerase III subunit H ISS MouseDO NCBI chr 7:113,429,434...113,439,743
Ensembl chr 7:113,429,451...113,439,778 		JBrowse link
G Por cytochrome p450 oxidoreductase ISO ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 NCBI chr12:20,951,058...20,999,198
Ensembl chr12:20,951,058...20,999,245 		JBrowse link
G Prepl prolyl endopeptidase-like ISO ClinVar Annotator: match by term: Premature ovarian insufficiency ClinVar PMID:25741868 NCBI chr 6:9,580,367...9,609,957
Ensembl chr 6:9,580,217...9,607,772 		JBrowse link
G Prim1 DNA primase subunit 1 ISO ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 NCBI chr 7:446,342...462,526
Ensembl chr 7:431,805...462,526 		JBrowse link
G Prkd1 protein kinase D1 ISO ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:28492532 PMID:31042289 NCBI chr 6:67,725,193...68,039,002
Ensembl chr 6:67,725,905...68,039,042 		JBrowse link
G Prlr prolactin receptor ISO ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 NCBI chr 2:59,134,147...59,324,719
Ensembl chr 2:59,134,588...59,324,718 		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 chr10:37,809,353...37,861,309
Ensembl chr10:37,808,726...37,861,396 		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 chr10:72,205,032...72,231,643
Ensembl chr10:72,205,032...72,231,248 		JBrowse link
G Rad54l RAD54 like ISO ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 NCBI chr 5:129,575,431...129,605,100
Ensembl chr 5:129,575,378...129,605,070 		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 chr15:29,109,862...29,117,327
Ensembl chr15:29,109,863...29,117,326 		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 2:55,811,877...55,903,893
Ensembl chr 2:55,811,322...55,901,426 		JBrowse link
G Ryr3 ryanodine receptor 3 ISO ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:99,431,755...99,979,125
Ensembl chr 3:99,432,505...99,704,961 		JBrowse link
G Sh2b1 SH2B adaptor protein 1 ISO ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 PMID:28492532 PMID:29631267 PMID:31439647 NCBI chr 1:181,048,622...181,057,036
Ensembl chr 1:181,048,623...181,056,579 		JBrowse link
G Sirt6 sirtuin 6 ISO ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 NCBI chr 7:8,082,312...8,087,776
Ensembl chr 7:8,082,364...8,098,914 		JBrowse link
G Slc3a1 solute carrier family 3 member 1 ISO ClinVar Annotator: match by term: Premature ovarian insufficiency ClinVar PMID:25741868 NCBI chr 6:9,608,169...9,641,881
Ensembl chr 6:9,608,178...9,641,907 		JBrowse link
G Smarcd2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2 ISO ClinVar Annotator: match by term: Premature ovarian insufficiency ClinVar PMID:25741868 PMID:33025377 NCBI chr10:91,193,752...91,202,817
Ensembl chr10:91,193,752...91,204,341 		JBrowse link
G Sox3 SRY-box transcription factor 3 ISO ClinVar Annotator: match by term: Premature ovarian insufficiency ClinVar PMID:25741868 NCBI chr  X:139,308,608...139,310,687
Ensembl chr  X:139,309,329...139,310,678 		JBrowse link
G Ssh1 slingshot protein phosphatase 1 ISO ClinVar Annotator: match by term: Premature ovarian insufficiency ClinVar PMID:25741868 NCBI chr12:42,621,127...42,683,262
Ensembl chr12:42,621,135...42,683,274 		JBrowse link
G Stag1 STAG1 cohesin complex component ISO ClinVar Annotator: match by term: Premature ovarian insufficiency ClinVar PMID:25741868 NCBI chr 8:101,179,039...101,564,684
Ensembl chr 8:101,179,039...101,564,677 		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 chr12:17,284,677...17,314,936
Ensembl chr12:17,284,794...17,314,935 		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 7:98,418,293...98,603,210
Ensembl chr 7:98,418,293...98,603,210 		JBrowse link
G Thbs1 thrombospondin 1 ISO ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 NCBI chr 3:105,056,293...105,071,445
Ensembl chr 3:105,056,292...105,071,440 		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 chr11:74,838,858...75,049,764
Ensembl chr11:74,838,859...75,049,398 		JBrowse link
G Ttc16 tetratricopeptide repeat domain 16 ISO ClinVar Annotator: match by term: Premature ovarian insufficiency ClinVar PMID:25741868 NCBI chr 3:16,052,567...16,064,598
Ensembl chr 3:16,048,565...16,064,547 		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 5:151,635,825...151,743,931
Ensembl chr 5:151,635,868...151,743,784 		JBrowse link
G Usp53 ubiquitin specific peptidase 53 ISO ClinVar Annotator: match by term: Premature ovarian insufficiency ClinVar PMID:25741868 NCBI chr 2:211,059,512...211,120,942
Ensembl chr 2:211,059,520...211,120,943 		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 1:135,526,363...135,557,091
Ensembl chr 1:135,526,386...135,554,759 		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 3:91,566,540...91,613,653
Ensembl chr 3:91,567,001...91,613,643 		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:127,287,765...127,317,036
Ensembl chr  X:127,287,979...127,317,223 		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 9:14,740,182...14,778,171
Ensembl chr 9:14,740,182...14,778,171 		JBrowse link
G Zfp462 zinc finger protein 462 ISO ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 NCBI chr 5:69,670,085...69,810,729
Ensembl chr 5:69,670,328...69,810,327 		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 chr17:51,263,262...51,282,471
Ensembl chr17:51,263,263...51,276,220 		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 chr10:13,873,539...13,874,978
Ensembl chr10:13,873,527...13,875,012 		JBrowse link
G Meiob meiosis specific with OB-fold ISO ClinVar Annotator: match by term: Premature ovarian failure 23 OMIM
ClinVar		 PMID:28492532 PMID:30838384 PMID:31000419 PMID:34392356 PMID:35991565 More... NCBI chr10:13,833,170...13,865,684
Ensembl chr10:13,833,750...13,865,046 		JBrowse link
Premature Ovarian Failure, Familial 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: Idiopathic familial premature ovarian failure ClinVar PMID:25741868 NCBI chr 6:91,579,185...91,615,183
Ensembl chr 6:91,579,325...91,615,148 		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:147,240,239...147,278,057
Ensembl chr  X:147,240,301...147,278,050 		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 chr20:32,818,219...32,929,577
Ensembl chr20:32,844,951...32,929,600 		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 4:72,128,931...72,134,436
Ensembl chr 4:72,128,931...72,134,436 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Premature ovarian failure 10		 OMIM
CTD
ClinVar		 PMID:25437880 PMID:25741868 PMID:25873734 PMID:31042289 NCBI chr 3:120,086,741...120,117,008
Ensembl chr 3:120,086,763...120,117,008 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Premature ovarian failure 11		 CTD
OMIM
ClinVar		 PMID:9443879 PMID:10196384 PMID:10767341 PMID:18414213 PMID:18628313 More... NCBI chr16:7,764,983...7,835,587
Ensembl chr16:7,765,013...7,835,587 		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
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Premature ovarian failure 12		 OMIM
MouseDO
CTD
ClinVar		 PMID:25062452 PMID:32917591 NCBI chr 1:195,852,171...195,863,174
Ensembl chr 1:195,852,172...195,863,174 		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: Premature ovarian failure 13
OMIM:617442
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:25741868 PMID:28175301 NCBI chr20:3,773,867...3,793,337
Ensembl chr20:3,776,942...3,793,336 		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: Premature ovarian failure 14 OMIM
ClinVar		 PMID:25741868 PMID:29044499 PMID:34008892 NCBI chr10:37,589,200...37,599,970
Ensembl chr10:37,595,679...37,599,672 		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: PREMATURE OVARIAN FAILURE 15 | ClinVar Annotator: match by term: Premature ovarian failure 15 OMIM
ClinVar		 PMID:17289582 PMID:18174376 PMID:19379763 PMID:19737859 PMID:23932590 More... NCBI chr 6:83,126,903...83,180,455
Ensembl chr 6:83,127,093...83,180,028 		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 7:8,906,776...8,909,192
Ensembl chr 7:8,906,836...8,909,282 		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 7:133,579,152...133,588,874
Ensembl chr 7:133,579,393...133,588,258 		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 2:28,079,187...28,241,722
Ensembl chr 2:28,092,882...28,241,719 		JBrowse link
G Bmp15 bone morphogenetic protein 15 ISO ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure ClinVar NCBI chr  X:16,169,123...16,174,187
Ensembl chr  X:16,169,123...16,174,187 		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 9:61,192,718...61,307,280
Ensembl chr 9:61,190,566...61,301,809 		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 1:135,917,676...135,943,333
Ensembl chr 1:135,917,687...135,943,333 		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:15290653 PMID:16683254 PMID:17026620 More... NCBI chr12:59,492...103,789
Ensembl chr12:59,819...100,567 		JBrowse link
G Brip1 BRCA1 interacting 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 NCBI chr10:70,907,266...71,031,502
Ensembl chr10:70,907,371...71,030,324 		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 chr16:7,764,983...7,835,587
Ensembl chr16:7,765,013...7,835,587 		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 4:118,432,517...118,436,846
Ensembl chr 4:118,432,765...118,436,690 		JBrowse link
G Foxl2 forkhead box L2 ISO ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure ClinVar PMID:24728327 NCBI chr 8:99,512,971...99,514,500
Ensembl chr 8:99,513,303...99,514,427 		JBrowse link
G Fshr follicle stimulating hormone receptor ISO ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure ClinVar NCBI chr 6:5,198,825...5,406,785
Ensembl chr 6:5,198,825...5,406,785 		JBrowse link
G Gdf9 growth differentiation factor 9 ISO ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure ClinVar NCBI chr10:37,589,200...37,599,970
Ensembl chr10:37,595,679...37,599,672 		JBrowse link
G Hfm1 helicase for meiosis 1 ISO ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure ClinVar NCBI chr14:2,857,251...2,943,766
Ensembl chr14:2,856,599...2,939,238 		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 1:95,668,918...95,691,353
Ensembl chr 1:95,668,886...95,691,368 		JBrowse link
G Msh4 mutS homolog 4 ISO ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure ClinVar PMID:35090489 NCBI chr 2:242,785,392...242,844,609
Ensembl chr 2:242,792,661...242,843,487 		JBrowse link
G Msh5 mutS homolog 5 ISO ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure ClinVar PMID:25741868 NCBI chr20:3,773,867...3,793,337
Ensembl chr20:3,776,942...3,793,336 		JBrowse link
G Nobox NOBOX oogenesis homeobox ISO ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure ClinVar PMID:17701902 NCBI chr 4:72,128,931...72,134,436
Ensembl chr 4:72,128,931...72,134,436 		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 3:22,464,786...22,486,328
Ensembl chr 3:22,465,502...22,486,328 		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:115,832,865...115,841,060
Ensembl chr  X:115,832,884...115,888,682 		JBrowse link
G Polr2c RNA polymerase II subunit C ISO ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure ClinVar NCBI chr19:10,158,153...10,164,935
Ensembl chr19:10,157,823...10,164,945 		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 1:56,505,579...56,525,726
Ensembl chr 1:56,505,579...56,525,652 		JBrowse link
G Smc1b structural maintenance of chromosomes 1B ISO ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure ClinVar NCBI chr 7:116,180,987...116,242,778
Ensembl chr 7:116,180,987...116,242,744 		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 3:8,662,995...8,667,521
Ensembl chr 3:8,663,318...8,667,388 		JBrowse link
G Spidr scaffold protein involved in DNA repair ISO ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure ClinVar NCBI chr11:84,766,593...85,007,597
Ensembl chr11:84,766,593...85,007,600 		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:28492532 PMID:30042186 PMID:30489636 PMID:33194656 NCBI chr 4:9,423,873...9,502,980
Ensembl chr 4:9,423,898...9,442,482 		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 6:91,579,185...91,615,183
Ensembl chr 6:91,579,325...91,615,148 		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 chr19:23,990,049...24,011,774
Ensembl chr19:23,990,045...24,011,850 		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 chr19:24,011,897...24,026,937
Ensembl chr19:24,011,938...24,026,936 		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 chr20:10,035,562...10,123,059
Ensembl chr20:10,035,562...10,121,242 		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 2:242,785,392...242,844,609
Ensembl chr 2:242,792,661...242,843,487 		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:25741868 PMID:30924587 PMID:35801529 PMID:36856110 NCBI chr11:74,838,858...75,049,764
Ensembl chr11:74,838,859...75,049,398 		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 1:95,668,918...95,691,353
Ensembl chr 1:95,668,886...95,691,368 		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: Premature ovarian failure 2A		 OMIM
CTD
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr  X:92,395,189...93,234,521
Ensembl chr  X:92,395,251...93,229,869 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: POF1B-related condition | ClinVar Annotator: match by term: Premature ovarian failure 2B		 OMIM
CTD
ClinVar		 PMID:15459172 PMID:16773570 PMID:21940798 PMID:25676666 PMID:25741868 More... NCBI chr  X:77,683,128...77,749,827
Ensembl chr  X:77,683,128...77,749,688 		JBrowse link
G Zfp711 zinc finger protein 711 ISO ClinVar Annotator: match by term: Premature ovarian failure 2B ClinVar NCBI chr  X:77,646,300...77,679,398
Ensembl chr  X:77,646,558...77,678,045 		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 7:105,018,202...105,105,118
Ensembl chr 7:105,029,120...105,104,974 		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 8:99,512,971...99,514,500
Ensembl chr 8:99,513,303...99,514,427 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Premature ovarian failure 5		 OMIM
CTD
ClinVar		 PMID:17701902 PMID:18930203 PMID:21837770 PMID:24103315 PMID:25514101 More... NCBI chr 4:72,128,931...72,134,436
Ensembl chr 4:72,128,931...72,134,436 		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 4:118,432,517...118,436,846
Ensembl chr 4:118,432,765...118,436,690 		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 3:22,464,786...22,486,328
Ensembl chr 3:22,465,502...22,486,328 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Premature ovarian failure 8		 OMIM
CTD
ClinVar		 PMID:24597867 PMID:25741868 PMID:28393351 PMID:30006057 NCBI chr12:17,284,677...17,314,936
Ensembl chr12:17,284,794...17,314,935 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Premature ovarian failure 9		 OMIM
CTD
ClinVar		 PMID:24597873 PMID:25741868 NCBI chr14:2,857,251...2,943,766
Ensembl chr14:2,856,599...2,939,238 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      endocrine system disease 6821
        gonadal disease 1212
          ovarian disease 891
            Primary Ovarian Failure 169
              primary ovarian insufficiency 158
                MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME 1
                Osteosclerosis with Ichthyosis and Premature Ovarian Failure 0
                Premature Ovarian Failure 23 2
                Premature Ovarian Failure, Familial 1
                Primary Ovarian Insufficiency 20 1
                Primary Ovarian Insufficiency 21 1
                Primary Ovarian Insufficiency 22 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 18969
    disease of anatomical entity 18249
      Urogenital Diseases 5233
        Female Urogenital Diseases and Pregnancy Complications 2456
          Female Urogenital Diseases 2003
            female reproductive system disease 2000
              Adnexal Diseases 900
                ovarian disease 891
                  Primary Ovarian Failure 169
                    primary ovarian insufficiency 158
                      MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME 1
                      Osteosclerosis with Ichthyosis and Premature Ovarian Failure 0
                      Premature Ovarian Failure 23 2
                      Premature Ovarian Failure, Familial 1
                      Primary Ovarian Insufficiency 20 1
                      Primary Ovarian Insufficiency 21 1
                      Primary Ovarian Insufficiency 22 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