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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 Failure
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Accession:DOID:9006101 term browser browse the term
Synonyms:exact_synonym: Female hypergonadotropic hypogonadism;   Hypergonadotrophic ovarian failure;   Primary female hypogonadism



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Primary Ovarian Failure 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 failure ClinVar PMID:21681106 PMID:25666259 NCBI chr 2:144,163,436...144,186,086 JBrowse link
G Galt galactose-1-phosphate uridylyltransferase ISO ClinVar Annotator: match by term: Primary ovarian failure ClinVar PMID:17876724 PMID:22461411 PMID:25741868 PMID:28492532 NCBI chr 5:56,927,039...56,930,284 JBrowse link
G Igsf10 immunoglobulin superfamily, member 10 ISO ClinVar Annotator: match by term: Primary ovarian failure ClinVar PMID:28492532 PMID:31042289 NCBI chr 2:143,575,710...143,605,044 JBrowse link
G Inha inhibin subunit alpha ISO ClinVar Annotator: match by term: Primary ovarian failure ClinVar PMID:24033266 PMID:25741868 NCBI chr 9:84,443,109...84,446,010 JBrowse link
G Mcm9 minichromosome maintenance 9 homologous recombination repair factor ISO ClinVar Annotator: match by term: Primary ovarian failure ClinVar PMID:25741868 PMID:28492532 PMID:31042289 NCBI chr20:32,818,219...32,929,577 JBrowse link
G Ntrk1 neurotrophic receptor tyrosine kinase 1 ISO ClinVar Annotator: match by term: Primary ovarian failure ClinVar PMID:25741868 PMID:28492532 PMID:34480478 NCBI chr 2:175,534,844...175,551,664 JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: Primary ovarian failure ClinVar PMID:14635118 PMID:25741868 PMID:27987238 NCBI chr 1:142,792,119...142,808,933 JBrowse link
G Sh2b1 SH2B adaptor protein 1 ISO ClinVar Annotator: match by term: Primary ovarian failure ClinVar PMID:25741868 PMID:28492532 PMID:29631267 PMID:31439647 NCBI chr 1:181,048,622...181,057,036 JBrowse link
G Tg thyroglobulin ISO ClinVar Annotator: match by term: Primary ovarian failure ClinVar PMID:8094490 PMID:16187910 PMID:28492532 PMID:31042289 NCBI chr 7:98,418,293...98,603,210 JBrowse link
46 XX gonadal dysgenesis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fancl FA complementation group L ISS OMIM:233300 | OMIM:278850 | OMIM:300833 | OMIM:400045 | OMIM:611812 | OMIM:614324 MouseDO NCBI chr14:104,449,403...104,515,297 JBrowse link
G Fshr follicle stimulating hormone receptor ISO DNA:point mutation:exon:A189V
ClinVar Annotator: match by term: Gonadal dysgenesis, XX type | ClinVar Annotator: match by term: Ovarian dysgenesis
ClinVar
RGD
PMID:25741868 PMID:28492532 PMID:7553856 RGD:1601232 NCBI chr 6:10,952,329...11,160,288 JBrowse link
G Mrps22 mitochondrial ribosomal protein S22 ISO ClinVar Annotator: match by term: 46 XX gonadal dysgenesis ClinVar PMID:25741868 PMID:28492532 PMID:29566152 NCBI chr 8:99,184,110...99,197,278 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 JBrowse link
46,XX sex reversal 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sry sex determining region Y ISO ClinVar Annotator: match by term: 46,XX sex reversal 1 OMIM
ClinVar
PMID:25741868 NCBI chr  Y:441,525...442,037 JBrowse link
46,XX sex reversal 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sox9 SRY-box transcription factor 9 ISO ClinVar Annotator: match by term: 46,XX sex reversal 2 ClinVar
OMIM
PMID:21208124 PMID:22051515 NCBI chr10:98,305,744...98,311,250 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 JBrowse link
ovarian dysgenesis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fshr follicle stimulating hormone receptor ISO ClinVar Annotator: match by term: FSHR-related condition | ClinVar Annotator: match by term: Ovarian dysgenesis 1 OMIM
ClinVar
PMID:7553856 PMID:8855829 PMID:9020851 PMID:9769327 PMID:9851774 More... NCBI chr 6:10,952,329...11,160,288 JBrowse link
ovarian dysgenesis 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zswim7 zinc finger, SWIM-type containing 7 ISO ClinVar Annotator: match by term: Ovarian dysgenesis 10 OMIM
ClinVar
PMID:25741868 PMID:32719396 PMID:33713115 PMID:34402903 NCBI chr10:46,953,311...46,969,800 JBrowse link
Ovarian Dysgenesis 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hrob homologous recombination factor with OB-fold ISO ClinVar Annotator: match by term: Ovarian dysgenesis 11 OMIM
ClinVar
PMID:34707299 PMID:38105698 NCBI chr10:87,705,846...87,722,635 JBrowse link
ovarian dysgenesis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmp15 bone morphogenetic protein 15 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Ovarian dysgenesis 2 | ClinVar Annotator: match by term: Premature ovarian failure 4
OMIM
CTD
ClinVar
PMID:15136966 PMID:16464940 PMID:16508750 PMID:16645022 PMID:18614612 More... NCBI chr  X:16,169,123...16,174,187 JBrowse link
ovarian dysgenesis 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mlx MAX dimerization protein MLX ISO ClinVar Annotator: match by term: Ovarian dysgenesis 3 ClinVar PMID:31042289 NCBI chr10:86,519,517...86,524,607 JBrowse link
G Nrxn1 neurexin 1 ISO ClinVar Annotator: match by term: Ovarian dysgenesis 3 ClinVar PMID:28492532 NCBI chr 6:3,177,788...4,323,848 JBrowse link
G Psmc3ip PSMC3 interacting protein ISO ClinVar Annotator: match by term: Ovarian dysgenesis 3 | ClinVar Annotator: match by term: PSMC3IP-related condition OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:31042289 NCBI chr10:86,024,281...86,027,928 JBrowse link
ovarian dysgenesis 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mcm9 minichromosome maintenance 9 homologous recombination repair factor ISO ClinVar Annotator: match by term: MCM9-related condition | ClinVar Annotator: match by term: OVARIAN DYSGENESIS 4 OMIM
ClinVar
PMID:25480036 PMID:25741868 PMID:26771056 PMID:28492532 PMID:31042289 NCBI chr20:32,818,219...32,929,577 JBrowse link
ovarian dysgenesis 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sohlh1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 ISO ClinVar Annotator: match by term: Ovarian dysgenesis 5 OMIM
ClinVar
PMID:17301727 PMID:20506135 PMID:25741868 PMID:25774885 PMID:28492532 More... NCBI chr 3:29,061,267...29,065,588 JBrowse link
ovarian dysgenesis 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nup107 nucleoporin 107 ISO ClinVar Annotator: match by term: Ovarian dysgenesis 6 OMIM
ClinVar
PMID:25741868 PMID:26485283 PMID:28492532 PMID:34707299 NCBI chr 7:53,353,740...53,398,345 JBrowse link
ovarian dysgenesis 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mrps22 mitochondrial ribosomal protein S22 ISO ClinVar Annotator: match by term: Ovarian dysgenesis 7 OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:29566152 PMID:31042289 NCBI chr 8:99,184,110...99,197,278 JBrowse link
ovarian dysgenesis 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Esr2 estrogen receptor 2 ISO ClinVar Annotator: match by term: ESR2-related condition | ClinVar Annotator: match by term: Ovarian dysgenesis 8 OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:30113650 NCBI chr 6:100,589,553...100,645,240 JBrowse link
ovarian dysgenesis 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Spidr scaffold protein involved in DNA repair ISO ClinVar Annotator: match by term: Ovarian dysgenesis 9 OMIM
ClinVar
PMID:25741868 PMID:27967308 PMID:34697795 NCBI chr11:84,766,593...85,007,597 JBrowse link
Perrault Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clpp caseinolytic mitochondrial matrix peptidase proteolytic subunit ISO ClinVar Annotator: match by term: Perrault syndrome 1 ClinVar PMID:30311386 NCBI chr 9:1,831,680...1,837,700 JBrowse link
G Dap3 death associated protein 3 ISO ClinVar Annotator: match by term: Perrault syndrome 1 ClinVar NCBI chr 2:174,319,341...174,347,489 JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Perrault syndrome 1 ClinVar PMID:25741868 NCBI chr 3:112,554,257...112,750,835 JBrowse link
G Fshr follicle stimulating hormone receptor ISO ClinVar Annotator: match by term: Gonadal dysgenesis XX type deafness ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:10,952,329...11,160,288 JBrowse link
G Gon4l gon-4 like ISO ClinVar Annotator: match by term: Perrault syndrome 1 ClinVar NCBI chr 2:176,531,274...176,604,446 JBrowse link
G Hsd17b4 hydroxysteroid (17-beta) dehydrogenase 4 ISO ClinVar Annotator: match by term: HSD17B4-related condition | ClinVar Annotator: match by term: OVARIAN DYSGENESIS WITH SENSORINEURAL DEAFNESS | ClinVar Annotator: match by term: Perrault syndrome 1
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:4061497 PMID:9482850 PMID:9536098 PMID:9915948 PMID:10419023 More... NCBI chr18:45,515,427...45,604,467 JBrowse link
G Mrpl49 mitochondrial ribosomal protein L49 ISO ClinVar Annotator: match by term: Perrault syndrome 1 ClinVar NCBI chr 1:203,346,068...203,350,040 JBrowse link
G Prorp protein only RNase P catalytic subunit ISO ClinVar Annotator: match by term: Perrault syndrome 1 ClinVar PMID:34715011 PMID:37558808 NCBI chr 6:72,669,659...72,762,419 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 JBrowse link
G Meiob meiosis specific with OB-fold ISO ClinVar Annotator: match by term: MEIOB-related condition | ClinVar Annotator: match by term: Premature ovarian failure 23 OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:30838384 PMID:31000419 PMID:34392356 More... NCBI chr10:13,833,170...13,865,684 JBrowse link
PREMATURE OVARIAN FAILURE 24 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sycp2l synaptonemal complex protein 2-like ISO ClinVar Annotator: match by term: Premature ovarian failure 24 ClinVar
OMIM
PMID:32303603 NCBI chr17:23,589,217...23,645,273 JBrowse link
Premature Ovarian Failure 26 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mga MAX dimerization protein MGA ISO OMIM NCBI chr 3:127,300,558...127,396,694 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 JBrowse link
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 JBrowse link
G Ackr3 atypical chemokine receptor 3 ISO ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 NCBI chr 9:98,247,300...98,258,877 JBrowse link
G Adamts1 ADAM metallopeptidase with thrombospondin type 1 motif, 1 ISO ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 NCBI chr11:38,418,565...38,427,384 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 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 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 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 JBrowse link
G Amhr2 anti-Mullerian hormone receptor type 2 ISO ClinVar Annotator: match by term: Premature ovarian insufficiency ClinVar PMID:25741868 NCBI chr 7:135,454,517...135,470,183 JBrowse link
G Aopep aminopeptidase O ISO ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 NCBI chr17:1,817,001...2,133,008 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 JBrowse link
G Atg7 autophagy related 7 ISO ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 NCBI chr 4:149,390,000...149,597,534 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 JBrowse link
G Bbs9 Bardet-Biedl syndrome 9 susceptibility ISO DNA:SNPs,haplotypes: : RGD PMID:18349106 RGD:9684994 NCBI chr 8:29,288,846...29,713,889 JBrowse link
G Bmal1 basic helix-loop-helix ARNT like 1 ISO ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 NCBI chr 1:176,766,222...176,864,741 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 JBrowse link
G Bmp6 bone morphogenetic protein 6 ISO ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 NCBI chr17:26,523,704...26,785,558 JBrowse link
G Bmpr1b bone morphogenetic protein receptor type 1B ISO ClinVar Annotator: match by term: Premature ovarian insufficiency ClinVar PMID:25741868 NCBI chr 2:233,211,525...233,544,344 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 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 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 JBrowse link
G Brwd1 bromodomain and WD repeat domain containing 1 ISO ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 NCBI chr11:48,756,174...48,853,692 JBrowse link
G C3 complement C3 ISO ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 PMID:28492532 PMID:31042289 NCBI chr 9:2,174,412...2,201,339 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 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 JBrowse link
G Cdc7 cell division cycle 7 ISO ClinVar Annotator: match by term: Premature ovarian insufficiency ClinVar PMID:25741868 NCBI chr14:2,949,538...2,969,656 JBrowse link
G Cenpi centromere protein I ISO ClinVar Annotator: match by term: Premature ovarian insufficiency ClinVar PMID:25741868 NCBI chr  X:101,809,192...101,860,935 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 JBrowse link
G Chek2 checkpoint kinase 2 ISO ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:20713355 PMID:22114986 PMID:25503501 PMID:25619829 PMID:25741868 More... NCBI chr12:51,448,838...51,481,159 JBrowse link
G Ckb creatine kinase B ISO ClinVar Annotator: match by term: Premature ovarian insufficiency ClinVar PMID:25741868 NCBI chr 6:136,550,583...136,553,464 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 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 JBrowse link
G Cyp19a1 cytochrome P450, family 19, subfamily a, polypeptide 1 ISO ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:20048079 PMID:25741868 NCBI chr 8:63,449,148...63,476,534 JBrowse link
G Cyp2c6 cytochrome P450, family 2, subfamily C, polypeptide 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15248218 NCBI chr 1:247,879,058...247,916,804 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 JBrowse link
G Diaph2 diaphanous-related formin 2 susceptibility ISO DNA:translocation:intron:t(X;12)(q21;p1.3) RGD PMID:9070928 RGD:1601071 NCBI chr  X:96,700,535...97,528,080 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 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 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 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 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:19625339 PMID:21560189 More... NCBI chr 6:104,866,926...104,873,351 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 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 JBrowse link
G Esrrg estrogen-related receptor gamma ISO ClinVar Annotator: match by term: Premature ovarian insufficiency ClinVar PMID:25741868 NCBI chr13:101,699,043...102,316,877 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 chr19:68,210,562...68,271,080 JBrowse link
G Fancc FA complementation group C ISO ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 NCBI chr17:1,686,374...1,818,672 JBrowse link
G Fance FA complementation group E ISO RGD PMID:26939056 RGD:11344915 NCBI chr20:6,369,416...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 1:110,585,054...110,587,870 JBrowse link
G Fancl FA complementation group L ISO ClinVar Annotator: match by term: Premature ovarian insufficiency ClinVar PMID:19405097 PMID:23613520 PMID:24033266 PMID:25239263 PMID:25659033 More... NCBI chr14:104,449,403...104,515,297 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 JBrowse link
G Foxk2 forkhead box K2 ISO ClinVar Annotator: match by term: Premature ovarian insufficiency ClinVar PMID:25741868 PMID:28492532 NCBI chr10:107,040,933...107,090,860 JBrowse link
G Fyn FYN proto-oncogene, Src family tyrosine kinase ISO ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 NCBI chr20:44,322,635...44,514,498 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 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 JBrowse link
G Gli1 GLI family zinc finger 1 ISO ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 NCBI chr 7:65,042,237...65,054,888 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 JBrowse link
G Herc1 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 ISO ClinVar Annotator: match by term: Premature ovarian insufficiency ClinVar PMID:25741868 NCBI chr 8:75,796,347...75,965,347 JBrowse link
G Hrob homologous recombination factor with OB-fold ISO ClinVar Annotator: match by term: Premature ovarian insufficiency ClinVar PMID:34707299 NCBI chr10:87,705,846...87,722,635 JBrowse link
G Igf2r insulin-like growth factor 2 receptor ISO ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 NCBI chr 1:50,526,878...50,615,265 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 JBrowse link
G Inha inhibin subunit alpha ISO ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:24033266 PMID:25741868 NCBI chr 9:84,443,109...84,446,010 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 JBrowse link
G Jak2 Janus kinase 2 ISO ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 NCBI chr 1:236,408,905...236,468,769 JBrowse link
G Kdr kinase insert domain receptor ISO ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:24728327 PMID:25741868 NCBI chr14:32,572,031...32,615,204 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 JBrowse link
G Lars2 leucyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 NCBI chr 8:131,887,728...131,983,866 JBrowse link
G Lepr leptin receptor ISO ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 NCBI chr 5:121,409,735...121,593,201 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 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 JBrowse link
G Mecom MDS1 and EVI1 complex locus ISO ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 NCBI chr 2:114,837,815...115,393,052 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 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 JBrowse link
G Mre11 MRE11 homolog, double strand break repair nuclease ISO ClinVar Annotator: match by term: Premature ovarian insufficiency ClinVar PMID:25741868 PMID:28492532 PMID:30924587 NCBI chr 8:19,900,211...19,961,906 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 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 JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor ISO ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 NCBI chr 7:95,483,105...95,488,031 JBrowse link
G Nbn nibrin ISO ClinVar Annotator: match by term: Premature ovarian insufficiency ClinVar PMID:9590180 PMID:16415040 PMID:28492532 PMID:29706645 NCBI chr 5:34,256,678...34,291,163 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 chr10:63,558,940...63,570,954 JBrowse link
G Nfe2l2 NFE2 like bZIP transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26247513 NCBI chr 3:81,001,529...81,031,165 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 JBrowse link
G Nos3 nitric oxide synthase 3 ISO ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 NCBI chr 4:11,686,088...11,706,604 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 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 JBrowse link
G Nr5a2 nuclear receptor subfamily 5, group A, member 2 ISO ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 NCBI chr13:50,865,253...50,985,107 JBrowse link
G Ntrk1 neurotrophic receptor tyrosine kinase 1 ISO ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 PMID:28492532 PMID:34480478 NCBI chr 2:175,534,844...175,551,664 JBrowse link
G Ntrk3 neurotrophic receptor tyrosine kinase 3 ISO ClinVar Annotator: match by term: Premature ovarian insufficiency ClinVar PMID:25741868 NCBI chr 1:141,526,192...141,913,575 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 JBrowse link
G Nup155 nucleoporin 155 ISO ClinVar Annotator: match by term: Premature ovarian insufficiency ClinVar PMID:25741868 NCBI chr 2:58,927,171...58,980,162 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 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 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 JBrowse link
G Pex6 peroxisomal biogenesis factor 6 ISO ClinVar Annotator: match by term: Premature ovarian insufficiency ClinVar PMID:19877282 PMID:25079577 PMID:25741868 PMID:28492532 PMID:32399598 NCBI chr 9:21,755,747...21,767,939 JBrowse link
G Pmm2 phosphomannomutase 2 ISO ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:9140401 PMID:15844218 PMID:25355454 PMID:25497157 PMID:25741868 More... NCBI chr10:7,468,371...7,489,574 JBrowse link
G Pnpla7 patatin-like phospholipase domain containing 7 ISO ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:31042289 NCBI chr 3:28,180,670...28,259,673 JBrowse link
G Pof1b POF1B, actin binding protein ISO ClinVar Annotator: match by term: Premature ovarian insufficiency ClinVar PMID:16773570 PMID:25741868 PMID:28492532 NCBI chr  X:81,875,348...81,942,046 JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISO associated with Ophthalmoplegia, Chronic Progressive External;DNA:missense mutation:cds:p.Y955C(human)
ClinVar Annotator: match by term: Premature ovarian failure
ClinVar
RGD
PMID:14635118 PMID:25741868 PMID:27987238 PMID:16595552 RGD:8694202 NCBI chr 1:142,792,119...142,808,933 JBrowse link
G Polr3h RNA polymerase III subunit H ISS MouseDO NCBI chr 7:113,429,434...113,439,743 JBrowse link
G Por cytochrome p450 oxidoreductase ISO ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 NCBI chr12:26,587,674...26,655,612 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 JBrowse link
G Prim1 DNA primase subunit 1 ISO ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 NCBI chr 7:1,031,436...1,047,134 JBrowse link
G Prkd1 protein kinase D1 ISO ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:28492532 PMID:31042289 NCBI chr 6:73,460,640...73,774,433 JBrowse link
G Prlr prolactin receptor ISO ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 NCBI chr 2:60,861,391...61,051,883 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 JBrowse link
G Rad51c RAD51 paralog C ISO ClinVar Annotator: match by term: Premature ovarian failure | ClinVar Annotator: match by term: Premature ovarian insufficiency ClinVar PMID:21537932 PMID:22476429 PMID:22538716 PMID:23117857 PMID:25085752 More... NCBI chr10:72,702,299...72,728,980 JBrowse link
G Rad54l RAD54 like ISO ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 NCBI chr 5:134,812,158...134,841,821 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 JBrowse link
G Rictor RPTOR independent companion of MTOR, complex 2 ISO ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 NCBI chr 2:57,539,279...57,631,291 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 JBrowse link
G Sh2b1 SH2B adaptor protein 1 ISO ClinVar Annotator: match by term: Primary Ovarian Insufficiency ClinVar PMID:25741868 PMID:28492532 PMID:29631267 PMID:31439647 NCBI chr 1:181,048,622...181,057,036 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 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 JBrowse link
G Smarcd2 SWI/SNF related BAF chromatin remodeling complex subunit D2 ISO ClinVar Annotator: match by term: Premature ovarian insufficiency ClinVar PMID:25741868 PMID:33025377 NCBI chr10:91,693,542...91,702,408 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 JBrowse link
G Ssh1 slingshot protein phosphatase 1 ISO ClinVar Annotator: match by term: Premature ovarian insufficiency ClinVar PMID:25741868 NCBI chr12:48,281,756...48,343,812 JBrowse link
G Stag1 STAG1 cohesin complex component ISO ClinVar Annotator: match by term: Premature ovarian insufficiency ClinVar PMID:25741868 NCBI chr 8:110,057,981...110,443,666 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 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 JBrowse link
G Thbs1 thrombospondin 1 ISO ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 NCBI chr 3:125,510,250...125,525,402 JBrowse link
G Tp63 tumor protein p63 ISO ClinVar Annotator: match by term: Premature ovarian insufficiency ClinVar PMID:25741868 PMID:30924587 PMID:35801529 PMID:36856110 NCBI chr11:88,343,647...88,554,543 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 JBrowse link
G Ubr4 ubiquitin protein ligase E3 component n-recognin 4 ISO ClinVar Annotator: match by term: Premature ovarian insufficiency ClinVar PMID:25741868 NCBI chr 5:156,919,029...157,027,127 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 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 JBrowse link
G Wt1 WT1 transcription factor ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Premature ovarian failure
CTD
ClinVar
PMID:25741868 PMID:26358501 NCBI chr 3:112,019,721...112,068,454 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 JBrowse link
G Xpo5 exportin 5 susceptibility ISO DNA:snps, haplotype:exon, 3' utr:c.3303C>T, c.*659A>C (rs2257082, rs11077) (human) RGD PMID:23549446 RGD:11041728 NCBI chr 9:22,237,760...22,275,745 JBrowse link
G Zfp462 zinc finger protein 462 ISO ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 NCBI chr 5:74,465,383...74,606,020 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 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 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 JBrowse link
primary ovarian insufficiency 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mcm8 minichromosome maintenance 8 homologous recombination repair factor ISO ClinVar Annotator: match by term: MCM8-related condition | ClinVar Annotator: match by term: Premature ovarian failure 10 OMIM
ClinVar
PMID:25437880 PMID:25741868 PMID:25873734 PMID:28492532 PMID:31042289 NCBI chr 3:140,539,590...140,569,891 JBrowse link
primary ovarian insufficiency 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ercc6 ERCC excision repair 6, chromatin remodeling factor ISO ClinVar Annotator: match by term: Premature ovarian failure 11 ClinVar
OMIM
PMID:9443879 PMID:10196384 PMID:10767341 PMID:18414213 PMID:18628313 More... NCBI chr16:7,771,311...7,841,895 JBrowse link
primary ovarian insufficiency 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Syce1 synaptonemal complex central element protein 1 ISO
ISS
OMIM:616946
ClinVar Annotator: match by term: Premature ovarian failure 12
OMIM
MouseDO
ClinVar
PMID:25062452 PMID:32917591 NCBI chr 1:195,852,171...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: MSH5-related condition | ClinVar Annotator: match by term: Premature ovarian failure 13
OMIM:617442
OMIM
ClinVar
MouseDO
PMID:24033266 PMID:25741868 PMID:28175301 PMID:28492532 NCBI chr20:3,773,867...3,793,337 JBrowse link
primary ovarian insufficiency 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gdf9 growth differentiation factor 9 ISO ClinVar Annotator: match by term: GDF9-related condition | ClinVar Annotator: match by term: Premature ovarian failure 14 OMIM
ClinVar
PMID:25741868 PMID:29044499 PMID:33036707 PMID:34008892 NCBI chr10:37,589,200...37,599,970 JBrowse link
primary ovarian insufficiency 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fancm FA complementation group M ISO ClinVar Annotator: match by term: FANCM-related condition | ClinVar Annotator: match by term: PREMATURE OVARIAN FAILURE 15 | ClinVar Annotator: match by term: Premature ovarian failure 15 OMIM
ClinVar
PMID:9536098 PMID:17289582 PMID:17576681 PMID:18174376 PMID:19379763 More... NCBI chr 6:88,862,898...88,916,701 JBrowse link
primary ovarian insufficiency 16 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amh anti-Mullerian hormone ISO ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure ClinVar NCBI chr 7:9,557,451...9,559,867 JBrowse link
G Amhr2 anti-Mullerian hormone receptor type 2 ISO ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure ClinVar NCBI chr 7:135,454,517...135,470,183 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 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 JBrowse link
G Bmpr2 bone morphogenetic protein receptor type 2 ISO ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure ClinVar PMID:18356561 PMID:19555857 PMID:20002458 PMID:20534176 PMID:21737554 More... NCBI chr 9:68,685,942...68,801,353 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 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 chr12:4,895,092...4,939,340 JBrowse link
G Brip1 BRCA1 interacting DNA helicase 1 ISO ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure ClinVar PMID:25741868 PMID:28492532 PMID:32091409 PMID:33471991 PMID:34326862 NCBI chr10:71,402,035...71,528,083 JBrowse link
G Ercc6 ERCC excision repair 6, chromatin remodeling factor ISO ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure ClinVar PMID:25741868 PMID:28492532 NCBI chr16:7,771,311...7,841,895 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 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 JBrowse link
G Fshr follicle stimulating hormone receptor ISO ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure ClinVar NCBI chr 6:10,952,329...11,160,288 JBrowse link
G Gdf9 growth differentiation factor 9 ISO ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure ClinVar PMID:25741868 NCBI chr10:37,589,200...37,599,970 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 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 JBrowse link
G Msh4 mutS homolog 4 ISO ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure ClinVar PMID:25741868 PMID:35090489 NCBI chr 2:242,785,392...242,844,609 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 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 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 JBrowse link
G Pgrmc1 progesterone receptor membrane component 1 ISO ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure ClinVar NCBI chr  X:120,698,610...120,706,805 JBrowse link
G Polr2c RNA polymerase II subunit C ISO ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure ClinVar NCBI chr19:10,158,153...10,164,935 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 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 JBrowse link
G Sohlh1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 ISO ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure ClinVar NCBI chr 3:29,061,267...29,065,588 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 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 4:10,157,130...10,237,089 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 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 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 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 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 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 chr11:88,343,647...88,554,543 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 JBrowse link
Primary Ovarian Insufficiency 25 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Spata22 spermatogenesis associated 22 ISO ClinVar Annotator: match by term: PREMATURE OVARIAN FAILURE 25 OMIM
ClinVar
PMID:35285020 NCBI chr10:57,945,272...57,963,081 JBrowse link
primary ovarian insufficiency 2A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Diaph2 diaphanous-related formin 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: DIAPH2-related condition | ClinVar Annotator: match by term: Premature ovarian failure 2A
OMIM
CTD
ClinVar
PMID:25741868 PMID:28492532 NCBI chr  X:96,700,535...97,528,080 JBrowse link
primary ovarian insufficiency 2B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pof1b POF1B, actin binding protein ISO ClinVar Annotator: match by term: POF1B-related condition | ClinVar Annotator: match by term: Premature ovarian failure 2B
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:15459172 PMID:16773570 PMID:25741868 PMID:28492532 NCBI chr  X:81,875,348...81,942,046 JBrowse link
G Zfp711 zinc finger protein 711 ISO ClinVar Annotator: match by term: Premature ovarian failure 2B ClinVar PMID:25741868 NCBI chr  X:81,838,483...81,871,767 JBrowse link
primary ovarian insufficiency 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ago2 argonaute RISC catalytic component 2 ISO ClinVar Annotator: match by term: Premature ovarian failure 3 ClinVar PMID:25741868 PMID:33199684 NCBI chr 7:106,907,209...106,994,124 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 JBrowse link
primary ovarian insufficiency 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nobox NOBOX oogenesis homeobox ISO ClinVar Annotator: match by term: Premature ovarian failure 5
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:17701902 PMID:18930203 PMID:21837770 PMID:24103315 PMID:25514101 More... NCBI chr 4:72,128,931...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 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 JBrowse link
primary ovarian insufficiency 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Stag3 STAG3 cohesin complex component ISO ClinVar Annotator: match by term: Premature ovarian failure 8 | ClinVar Annotator: match by term: STAG3-related condition OMIM
ClinVar
PMID:24597867 PMID:25741868 PMID:28393351 PMID:28492532 PMID:30006057 NCBI chr12:17,284,677...17,314,936 JBrowse link
primary ovarian insufficiency 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hfm1 helicase for meiosis 1 ISO ClinVar Annotator: match by term: HFM1-related condition | ClinVar Annotator: match by term: Premature ovarian failure 9 OMIM
ClinVar
PMID:24597873 PMID:25741868 NCBI chr14:2,857,251...2,943,766 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19139
    disease of anatomical entity 18450
      endocrine system disease 7037
        gonadal disease 1390
          ovarian disease 1067
            Primary Ovarian Failure 175
              46 XX gonadal dysgenesis + 24
              primary ovarian insufficiency + 161
Path 2
Term Annotations click to browse term
  disease 19139
    disease of anatomical entity 18450
      Urogenital Diseases 5391
        Female Urogenital Diseases and Pregnancy Complications 2668
          Female Urogenital Diseases 2191
            female reproductive system disease 2188
              Adnexal Diseases 1076
                ovarian disease 1067
                  Primary Ovarian Failure 175
                    46 XX gonadal dysgenesis + 24
                    primary ovarian insufficiency + 161
paths to the root