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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: Gonadotropin Resistant Ovary Syndrome;   POF;   POFX;   Premature Ovarian Failure, X Linked;   X linked hypergonadotropic ovarian failure;   fragile X associated primary ovarian insufficiency;   fragile X premature ovarian failure;   premature ovarian failure;   premature ovarian insufficiency;   resistant ovary syndrome
 primary_id: MESH:D016649
 xref: 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: FRAGILE X PREMATURE OVARIAN FAILURE 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 AF4/FMR2 family, member 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 chr17:1,811,922...2,127,316
Ensembl chr17:1,811,980...2,127,331
JBrowse link
G Arntl aryl hydrocarbon receptor nuclear translocator-like 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 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 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...26,469,034
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 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 chr14:2,421,094...2,445,842
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: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 chr13:47,723,121...47,802,597
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: Primary Ovarian Insufficiency 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:25741868 PMID:26467025 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 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 8:54,553,165...54,580,758
Ensembl chr 8:54,553,165...54,580,758
JBrowse link
G Cyp2c6v1 cytochrome P450, family 2, subfamily C, polypeptide 6, variant 1 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 Eif2b2 eukaryotic translation initiation factor 2B subunit beta ISO ClinVar Annotator: match by term: Primary ovarian insufficiency ClinVar PMID:29706645 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:25741868 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 6:106,007,662...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:24045675 RGD:11344888 NCBI chr19:51,304,021...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...101,452,361
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 FMRP translational regulator 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12548733 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 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: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 Ggps1 geranylgeranyl diphosphate synthase 1 ISO ClinVar Annotator: match by term: Premature ovarian insufficiency ClinVar PMID:25741868 PMID:32403198 NCBI chr17:51,263,262...51,282,471
Ensembl chr17:51,263,263...51,276,220
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 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: Primary Ovarian Insufficiency
ClinVar Annotator: match by term: Premature ovarian failure
ClinVar 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...123,108,957
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: Primary Ovarian Insufficiency ClinVar 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 RISC complex 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 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: Primary Ovarian Insufficiency 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 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...60,621,785
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 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 5:153,022,089...153,037,376
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 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:25741868 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: Primary Ovarian Insufficiency 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:28492532 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 insufficiency
ClinVar Annotator: match by term: Premature ovarian failure
ClinVar PMID:21537932 PMID:22476429 PMID:22538716 PMID:23117857 PMID:25186627 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 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 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 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...139,310,734
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 stromal antigen 1 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 stromal antigen 3 ISO ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 NCBI chr12:17,284,677...17,314,936
Ensembl chr12:17,284,794...17,314,935
JBrowse link
G Tfam transcription factor A, mitochondrial ISO ClinVar Annotator: match by term: Premature ovarian insufficiency ClinVar PMID:25741868 NCBI chr20:17,356,243...17,368,293
Ensembl chr20:17,356,197...17,368,292
JBrowse link
G Tg thyroglobulin ISO ClinVar Annotator: match by term: Primary Ovarian Insufficiency 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 3:105,056,286...105,071,445
Ensembl chr 3:105,056,292...105,071,440
JBrowse link
G Top1mt DNA topoisomerase I mitochondrial ISO ClinVar Annotator: match by term: Premature ovarian insufficiency ClinVar PMID:25741868 NCBI chr 7:107,338,092...107,368,125
Ensembl chr 7:107,342,527...107,366,049
JBrowse link
G Tp63 tumor protein p63 ISO ClinVar Annotator: match by term: Premature ovarian insufficiency ClinVar PMID:25741868 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 3:16,048,484...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 Vrk2 VRK serine/threonine kinase 2 ISO ClinVar Annotator: match by term: Premature ovarian insufficiency ClinVar PMID:19405097 PMID:23613520 PMID:24033266 PMID:25239263 PMID:25659033 More... NCBI chr14:100,313,771...100,434,605
Ensembl chr14:100,313,601...100,434,527
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 ClinVar
OMIM
PMID:25741868 PMID:32403198 NCBI chr17:51,263,262...51,282,471
Ensembl chr17:51,263,263...51,276,220
JBrowse link
primary ovarian insufficiency 1 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, FRAGILE X-ASSOCIATED 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 Chd7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: PRIMARY OVARIAN INSUFFICIENCY, FRAGILE X-ASSOCIATED 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 Fmr1 FMRP translational regulator 1 ISO OMIM NCBI chr  X:147,240,239...147,278,057
Ensembl chr  X:147,240,301...147,278,050
JBrowse link
G Insl6 insulin-like 6 ISO ClinVar Annotator: match by term: PRIMARY OVARIAN INSUFFICIENCY, FRAGILE X-ASSOCIATED 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: PRIMARY OVARIAN INSUFFICIENCY, FRAGILE X-ASSOCIATED ClinVar PMID:25741868 NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189
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:25960166 PMID:26848058 More... NCBI chr 4:72,128,931...72,134,436
Ensembl chr 4:72,128,931...72,134,436
JBrowse link
G Ntrk1 neurotrophic receptor tyrosine kinase 1 ISO ClinVar Annotator: match by term: PRIMARY OVARIAN INSUFFICIENCY, FRAGILE X-ASSOCIATED 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 Tg thyroglobulin ISO ClinVar Annotator: match by term: PRIMARY OVARIAN INSUFFICIENCY, FRAGILE X-ASSOCIATED 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
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: Premature ovarian failure 10 ClinVar
OMIM
PMID:25437880 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 ClinVar Annotator: match by term: Premature ovarian failure 11 ClinVar
OMIM
PMID:9443879 PMID:10767341 PMID:18414213 PMID:18628313 PMID:19894250 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 ClinVar Annotator: match by term: Premature ovarian failure 12 OMIM
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 ClinVar Annotator: match by term: PREMATURE OVARIAN FAILURE 13 ClinVar
OMIM
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
ClinVar Annotator: match by term: Premature ovarian failure 14
ClinVar
OMIM
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:23932590 PMID:24003026 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 Bnc1 basonuclin 1 ISO ClinVar Annotator: match by term: Premature ovarian failure 16
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
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:30042186 PMID:30489636 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 Hsf2bp heat shock transcription factor 2 binding protein ISO ClinVar Annotator: match by term: PREMATURE OVARIAN FAILURE 19
ClinVar Annotator: match by term: Premature ovarian failure 19
ClinVar
OMIM
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 2A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Diaph2 diaphanous-related formin 2 ISO ClinVar Annotator: match by term: Premature ovarian failure 2a OMIM
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 ClinVar Annotator: match by term: Premature ovarian failure 2b
ClinVar Annotator: match by OMIM:300604
OMIM
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 Foxl2 forkhead box L2 ISO ClinVar Annotator: match by term: Premature ovarian failure 3
ClinVar Annotator: match by OMIM:608996
OMIM
ClinVar
PMID:12149404 PMID:12161610 PMID:19429596 PMID:25741868 PMID:29378385 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 ClinVar Annotator: match by term: Premature ovarian failure 5
ClinVar Annotator: match by OMIM:611548
OMIM
ClinVar
PMID:15326356 PMID:17701902 PMID:18930203 PMID:21837770 PMID:24103315 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 ClinVar Annotator: match by term: Premature ovarian failure 6
ClinVar Annotator: match by OMIM:612310
OMIM
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: Premature ovarian failure 7
ClinVar Annotator: match by term: ADRENAL INSUFFICIENCY, NR5A1-RELATED
ClinVar Annotator: match by OMIM:612964
OMIM
ClinVar
PMID:11038323 PMID:11932325 PMID:19246354 PMID:25741868 PMID:26523528 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 stromal antigen 3 ISO ClinVar Annotator: match by term: Premature ovarian failure 8
ClinVar Annotator: match by OMIM:615723
OMIM
ClinVar
PMID:24597867 PMID:25741868 PMID:28393351 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 ClinVar Annotator: match by term: Premature ovarian failure 9
ClinVar Annotator: match by OMIM:615724
OMIM
ClinVar
PMID:24597873 NCBI chr14:2,857,251...2,943,766
Ensembl chr14:2,856,599...2,939,238
JBrowse link
Primary Ovarian Insufficiency, Fragile X-Associated 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, FRAGILE X-ASSOCIATED 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 Chd7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: PRIMARY OVARIAN INSUFFICIENCY, FRAGILE X-ASSOCIATED 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 Fmr1 FMRP translational regulator 1 ISO RGD 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 Insl6 insulin-like 6 ISO ClinVar Annotator: match by term: PRIMARY OVARIAN INSUFFICIENCY, FRAGILE X-ASSOCIATED 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: PRIMARY OVARIAN INSUFFICIENCY, FRAGILE X-ASSOCIATED ClinVar PMID:25741868 NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189
JBrowse link
G Ntrk1 neurotrophic receptor tyrosine kinase 1 ISO ClinVar Annotator: match by term: PRIMARY OVARIAN INSUFFICIENCY, FRAGILE X-ASSOCIATED 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 Tg thyroglobulin ISO ClinVar Annotator: match by term: PRIMARY OVARIAN INSUFFICIENCY, FRAGILE X-ASSOCIATED 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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17435
    disease of anatomical entity 16766
      endocrine system disease 5873
        gonadal disease 1040
          ovarian disease 802
            PRIMARY OVARIAN FAILURE 148
              primary ovarian insufficiency 141
                MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME 1
                Osteosclerosis with Ichthyosis and Premature Ovarian Failure 0
                Premature Ovarian Failure, Familial 0
                Primary Ovarian Insufficiency, Fragile X-Associated 7
                primary ovarian insufficiency 1 9
                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 1
                primary ovarian insufficiency 17 1
                primary ovarian insufficiency 18 1
                primary ovarian insufficiency 19 1
                primary ovarian insufficiency 2A 1
                primary ovarian insufficiency 2B 2
                primary ovarian insufficiency 3 1
                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 17435
    disease of anatomical entity 16766
      Urogenital Diseases 4437
        Female Urogenital Diseases and Pregnancy Complications 2085
          Female Urogenital Diseases 1778
            female reproductive system disease 1774
              Adnexal Diseases 811
                ovarian disease 802
                  PRIMARY OVARIAN FAILURE 148
                    primary ovarian insufficiency 141
                      MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME 1
                      Osteosclerosis with Ichthyosis and Premature Ovarian Failure 0
                      Premature Ovarian Failure, Familial 0
                      Primary Ovarian Insufficiency, Fragile X-Associated 7
                      primary ovarian insufficiency 1 9
                      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 1
                      primary ovarian insufficiency 17 1
                      primary ovarian insufficiency 18 1
                      primary ovarian insufficiency 19 1
                      primary ovarian insufficiency 2A 1
                      primary ovarian insufficiency 2B 2
                      primary ovarian insufficiency 3 1
                      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
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