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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
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
PRIMARY OVARIAN FAILURE 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: Primary ovarian failure ClinVar PMID:29566152, PMID:31042289 NCBI chr 8:106,604,421...106,617,591
Ensembl chr 8:106,604,379...106,617,597
JBrowse link
Ovarian Dysgenesis 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: Ovarian Dysgenesis ClinVar NCBI chr 6:12,796,383...12,997,817
Ensembl chr 6:12,796,383...12,997,817
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: Ovarian dysgenesis 1
ClinVar Annotator: match by OMIM:233300
OMIM
ClinVar
PMID:7553856, PMID:8178824, PMID:9020851, PMID:9769327, PMID:9851774, PMID:10022448, PMID:10551778, PMID:11036902, PMID:11213123, PMID:11754099, PMID:11889179, PMID:12571157, PMID:12915623, PMID:15249125, PMID:15579795, PMID:15886248, PMID:16084888, PMID:16864747, PMID:17826728, PMID:18159088, PMID:19172541, PMID:19400992, PMID:20087398, PMID:20237833, PMID:21752882, PMID:22401810, PMID:23419799, PMID:25741868, PMID:28492532 NCBI chr 6:12,796,383...12,997,817
Ensembl chr 6:12,796,383...12,997,817
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 ClinVar Annotator: match by term: Ovarian dysgenesis 2
ClinVar Annotator: match by term: Premature ovarian failure 4
ClinVar Annotator: match by synonym: Premature ovarian failure 4
OMIM
ClinVar
PMID:15136966, PMID:16464940, PMID:16508750, PMID:16645022, PMID:18614612, PMID:19263482, PMID:20364024, PMID:20547206, PMID:25741868, PMID:28492532, PMID:31957178 NCBI chr  X:17,016,831...17,021,894
Ensembl chr  X:17,016,778...17,023,418
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 chr10:88,997,011...89,002,154
Ensembl chr10:88,997,399...89,002,152
JBrowse link
G Nrxn1 neurexin 1 ISO ClinVar Annotator: match by term: Ovarian dysgenesis 3 ClinVar NCBI chr 6:13,886,757...15,191,660
Ensembl chr 6:13,886,740...15,191,660
JBrowse link
G Psmc3ip PSMC3 interacting protein ISO ClinVar Annotator: match by term: Ovarian dysgenesis 3 OMIM
ClinVar
PMID:31042289 NCBI chr10:89,002,109...89,006,075
Ensembl chr10:89,002,116...89,005,213
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: Ovarian dysgenesis 4 OMIM
ClinVar
PMID:25480036, PMID:26771056, PMID:31042289 NCBI chr20:34,818,093...34,930,157
Ensembl chr20:34,846,804...34,929,965
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 ClinVar
OMIM
PMID:17301727, PMID:25741868, PMID:25774885 NCBI chr 3:3,290,766...3,295,226
Ensembl chr 3:3,291,084...3,295,101
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 ClinVar
OMIM
PMID:26485283 NCBI chr 7:60,781,724...60,825,225
Ensembl chr 7:60,781,729...60,825,242
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 ClinVar
OMIM
PMID:29566152, PMID:31042289 NCBI chr 8:106,604,421...106,617,591
Ensembl chr 8:106,604,379...106,617,597
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: OVARIAN DYSGENESIS 8 ClinVar
OMIM
PMID:30113650 NCBI chr 6:99,163,953...99,214,711
Ensembl chr 6:99,164,357...99,214,251
JBrowse link
premature 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: FRAGILE X PREMATURE OVARIAN FAILURE ClinVar PMID:21681106, PMID:25666259 NCBI chr 2:150,146,234...150,157,480
Ensembl chr 2:150,146,234...150,157,480
JBrowse link
G Amhr2 anti-Mullerian hormone receptor type 2 ISO ClinVar Annotator: match by term: Premature ovarian insufficiency ClinVar PMID:25741868 NCBI chr 7:144,052,202...144,060,678
Ensembl chr 7:144,052,061...144,060,685
JBrowse link
G Bbs9 Bardet-Biedl syndrome 9 susceptibility ISO DNA:SNPs,haplotypes: : RGD PMID:18349106 RGD:9684994 NCBI chr 8:23,491,929...24,074,524
Ensembl chr 8:23,492,621...24,074,536
Ensembl chr 8:23,492,621...24,074,536
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:17,016,831...17,021,894
Ensembl chr  X:17,016,778...17,023,418
JBrowse link
G Bmpr1b bone morphogenetic protein receptor type 1B ISO ClinVar Annotator: match by term: Premature ovarian insufficiency ClinVar PMID:25741868 NCBI chr 2:247,392,195...247,662,026
Ensembl chr 2:247,403,920...247,446,882
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 chr13:53,145,712...53,225,349
Ensembl chr13:53,145,712...53,225,349
JBrowse link
G Ccnt2 cyclin T2 ISO ClinVar Annotator: match by term: Premature ovarian insufficiency ClinVar PMID:25741868 NCBI chr13:44,475,959...44,516,892
Ensembl chr13:44,475,970...44,515,739
JBrowse link
G Cdc7 cell division cycle 7 ISO ClinVar Annotator: match by term: Premature ovarian insufficiency ClinVar PMID:25741868 NCBI chr14:3,826,658...3,846,891
Ensembl chr14:3,826,659...3,846,891
JBrowse link
G Cenpi centromere protein I ISO ClinVar Annotator: match by term: Premature ovarian insufficiency ClinVar PMID:25741868 NCBI chr  X:105,147,045...105,198,798
Ensembl chr  X:105,147,153...105,198,797
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 5:21,769,087...21,952,036
Ensembl chr 5:21,830,882...21,950,696
JBrowse link
G Ckb creatine kinase B ISO ClinVar Annotator: match by term: Premature ovarian insufficiency ClinVar PMID:25741868 NCBI chr 6:136,142,956...136,145,838
Ensembl chr 6:136,142,956...136,145,837
JBrowse link
G Crocc ciliary rootlet coiled-coil, rootletin ISO ClinVar Annotator: match by term: Premature ovarian insufficiency ClinVar PMID:25741868 NCBI chr 5:159,540,453...159,583,194
Ensembl chr 5:159,540,421...159,583,049
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 1:147,713,879...147,814,410
Ensembl chr 1:147,713,892...147,888,007
JBrowse link
G Ddi1 DNA-damage inducible 1 homolog 1 ISO ClinVar Annotator: match by term: Premature ovarian insufficiency ClinVar PMID:25741868 NCBI chr 8:4,547,725...4,549,573
Ensembl chr 8:4,547,725...4,549,573
JBrowse link
G Diaph2 diaphanous-related formin 2 susceptibility ISO
ISS
DNA:translocation:intron:t(X;12)(q21;p1.3)
OMIM:300510 | OMIM:300511 | OMIM:300604 | OMIM:311360 | OMIM:608996 | OMIM:611548 | OMIM:612310 | OMIM:612964 | OMIM:615723 | OMIM:615724
MouseDO PMID:9070928 RGD:1601071 NCBI chr  X:99,722,910...100,363,228 JBrowse link
G Dmc1 DNA meiotic recombinase 1 ISO ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 NCBI chr 7:120,796,217...120,840,524
Ensembl chr 7:120,796,217...120,839,577
JBrowse link
G Dnah1 dynein, axonemal, heavy chain 1 ISO ClinVar Annotator: match by term: Premature ovarian insufficiency ClinVar PMID:25741868, PMID:28492532 NCBI chr16:7,345,131...7,407,009
Ensembl chr16:7,345,978...7,408,265
JBrowse link
G Dnah6 dynein, axonemal, heavy chain 6 ISO ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 NCBI chr 4:100,936,834...101,157,511
Ensembl chr 4:100,936,978...101,156,576
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 6:109,044,830...109,051,254
Ensembl chr 6:109,043,880...109,051,253
JBrowse link
G Ercc6l2 ERCC excision repair 6 like 2 ISO ClinVar Annotator: match by term: Premature ovarian insufficiency ClinVar PMID:25741868 NCBI chr17:1,325,654...1,421,732
Ensembl chr17:1,305,016...1,421,685
JBrowse link
G Esrrb estrogen-related receptor beta ISO ClinVar Annotator: match by term: Premature ovarian insufficiency ClinVar PMID:25741868 NCBI chr 6:110,360,940...110,458,406
Ensembl chr 6:110,410,141...110,455,906
JBrowse link
G Esrrg estrogen-related receptor gamma ISO ClinVar Annotator: match by term: Premature ovarian insufficiency ClinVar PMID:25741868 NCBI chr13:106,063,799...106,683,353
Ensembl chr13:106,463,368...106,683,436
JBrowse link
G Fanca FA complementation group A ISO DNA:SNPs, haplotypes: :multiple RGD PMID:24045675 RGD:11344888 NCBI chr19:56,067,548...56,126,075
Ensembl chr19:56,067,548...56,126,063
JBrowse link
G Fance FA complementation group E ISO RGD PMID:26939056 RGD:11344915 NCBI chr20:7,888,927...7,906,142
Ensembl chr20:7,895,083...7,906,142
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 1:107,229,516...107,232,321
Ensembl chr 1:107,231,292...107,232,305
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, PMID:25741868, PMID:27153395, PMID:28492532 NCBI chr14:110,675,306...110,740,880
Ensembl chr14:110,676,090...110,740,317
JBrowse link
G Figla folliculogenesis specific bHLH transcription factor ISS OMIM:300510 | OMIM:300511 | OMIM:300604 | OMIM:311360 | OMIM:608996 | OMIM:611548 | OMIM:612310 | OMIM:612964 | OMIM:615723 | OMIM:615724 MouseDO NCBI chr 4:117,679,256...117,683,618
Ensembl chr 4:117,679,342...117,683,411
JBrowse link
G Fmr1 FMRP translational regulator 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12548733 NCBI chr  X:154,684,924...154,722,369
Ensembl chr  X:154,684,935...154,722,314
JBrowse link
G Foxk2 forkhead box K2 ISO ClinVar Annotator: match by term: Premature ovarian insufficiency ClinVar PMID:25741868, PMID:28492532 NCBI chr10:110,468,905...110,518,854
Ensembl chr10:110,469,290...110,518,848
JBrowse link
G Foxl2 forkhead box L2 ISS OMIM:300510 | OMIM:300511 | OMIM:300604 | OMIM:311360 | OMIM:608996 | OMIM:611548 | OMIM:612310 | OMIM:612964 | OMIM:615723 | OMIM:615724 MouseDO NCBI chr 8:107,194,492...107,197,644
Ensembl chr 8:107,194,551...107,195,675
JBrowse link
G Gdf9 growth differentiation factor 9 ISO ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 NCBI chr10:38,782,519...38,793,238
Ensembl chr10:38,788,992...38,792,940
JBrowse link
G Grem1 gremlin 1, DAN family BMP antagonist ISO ClinVar Annotator: match by term: Premature ovarian insufficiency ClinVar PMID:25741868 NCBI chr 3:105,203,309...105,214,989
Ensembl chr 3:105,203,309...105,214,989
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 8:72,029,550...72,198,363
Ensembl chr 8:72,029,489...72,198,358
JBrowse link
G Hfm1 helicase for meiosis 1 ISS OMIM:300510 | OMIM:300511 | OMIM:300604 | OMIM:311360 | OMIM:608996 | OMIM:611548 | OMIM:612310 | OMIM:612964 | OMIM:615723 | OMIM:615724 MouseDO NCBI chr14:3,879,172...3,961,139
Ensembl chr14:3,882,398...3,960,909
JBrowse link
G Igsf10 immunoglobulin superfamily, member 10 ISO ClinVar Annotator: match by term: Primary Ovarian Insufficiency ClinVar PMID:28492532, PMID:31042289 NCBI chr 2:149,535,199...149,564,180
Ensembl chr 2:149,533,151...149,564,113
JBrowse link
G Inha inhibin subunit alpha ISO ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:24033266, PMID:25741868 NCBI chr 9:82,700,482...82,703,383
Ensembl chr 9:82,700,468...82,703,400
JBrowse link
G Lhcgr luteinizing hormone/choriogonadotropin receptor ISO ClinVar Annotator: match by term: Premature ovarian insufficiency ClinVar PMID:25741869, PMID:30311386 NCBI chr 6:12,493,182...12,554,482
Ensembl chr 6:12,493,943...12,554,439
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 chr20:34,818,093...34,930,157
Ensembl chr20:34,846,804...34,929,965
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 8:13,304,355...13,350,329
Ensembl chr 8:13,305,152...13,352,489
JBrowse link
G Mrps22 mitochondrial ribosomal protein S22 ISO ClinVar Annotator: match by term: Primary Ovarian Insufficiency ClinVar PMID:29566152, PMID:31042289 NCBI chr 8:106,604,421...106,617,591
Ensembl chr 8:106,604,379...106,617,597
JBrowse link
G Msh4 mutS homolog 4 ISO ClinVar Annotator: match by term: Premature ovarian insufficiency ClinVar PMID:25741868 NCBI chr 2:260,057,708...260,108,897
Ensembl chr 2:260,057,855...260,108,897
JBrowse link
G Nbn nibrin ISO ClinVar Annotator: match by term: Primary ovarian insufficiency ClinVar PMID:29706645 NCBI chr 5:29,622,347...29,656,877
Ensembl chr 5:29,622,281...29,656,864
JBrowse link
G Nek8 NIMA-related kinase 8 ISO ClinVar Annotator: match by term: Premature ovarian insufficiency ClinVar PMID:23418306, PMID:25741868 NCBI chr10:65,404,489...65,439,059
Ensembl chr10:65,425,771...65,437,143
JBrowse link
G Nfe2l2 nuclear factor, erythroid 2-like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26247513 NCBI chr 3:62,497,568...62,525,146
Ensembl chr 3:62,497,571...62,524,996
JBrowse link
G Nobox NOBOX oogenesis homeobox ISS OMIM:300510 | OMIM:300511 | OMIM:300604 | OMIM:311360 | OMIM:608996 | OMIM:611548 | OMIM:612310 | OMIM:612964 | OMIM:615723 | OMIM:615724 MouseDO NCBI chr 4:72,749,239...72,757,066
Ensembl chr 4:72,751,382...72,756,887
JBrowse link
G Nr5a1 nuclear receptor subfamily 5, group A, member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19246354 NCBI chr 3:22,998,900...23,020,441
Ensembl chr 3:22,999,616...23,020,441
JBrowse link
G Ntrk3 neurotrophic receptor tyrosine kinase 3 ISO ClinVar Annotator: match by term: Premature ovarian insufficiency ClinVar PMID:25741868 NCBI chr 1:139,890,537...140,262,503
Ensembl chr 1:139,890,560...140,262,503
JBrowse link
G Nup107 nucleoporin 107 ISO ClinVar Annotator: match by term: Premature ovarian insufficiency ClinVar PMID:25741868 NCBI chr 7:60,781,724...60,825,225
Ensembl chr 7:60,781,729...60,825,242
JBrowse link
G Nup155 nucleoporin 155 ISO ClinVar Annotator: match by term: Premature ovarian insufficiency ClinVar PMID:25741868 NCBI chr 2:57,206,665...57,258,242
Ensembl chr 2:57,206,613...57,258,295
JBrowse link
G Pdgfd platelet derived growth factor D ISO ClinVar Annotator: match by term: Premature ovarian insufficiency ClinVar PMID:25741868 NCBI chr 8:4,441,010...4,666,754
Ensembl chr 8:4,440,876...4,669,014
JBrowse link
G Pof1b POF1B, actin binding protein ISS
ISO
OMIM:300510 | OMIM:300511 | OMIM:300604 | OMIM:311360 | OMIM:608996 | OMIM:611548 | OMIM:612310 | OMIM:612964 | OMIM:615723 | OMIM:615724
ClinVar Annotator: match by term: Premature ovarian insufficiency
MouseDO
ClinVar
PMID:15459172, PMID:16773570, PMID:21940798, PMID:25676666, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr  X:84,099,618...84,167,717
Ensembl chr  X:84,099,618...84,167,717
JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISO associated with Ophthalmoplegia, Chronic Progressive External;DNA:missense mutation:cds:p.Y955C(human) RGD PMID:16595552 RGD:8694202 NCBI chr 1:141,172,117...141,188,893
Ensembl chr 1:141,172,531...141,188,031
JBrowse link
G Prepl prolyl endopeptidase-like ISO ClinVar Annotator: match by term: Premature ovarian insufficiency ClinVar PMID:25741868 NCBI chr 6:8,316,861...8,346,293
Ensembl chr 6:8,318,979...8,346,197
JBrowse link
G Prkd1 protein kinase D1 ISO ClinVar Annotator: match by term: Primary Ovarian Insufficiency ClinVar PMID:28492532, PMID:31042289 NCBI chr 6:71,035,017...71,349,531
Ensembl chr 6:71,035,332...71,349,249
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 chr10:39,002,130...39,054,042
Ensembl chr10:39,001,498...39,054,142
JBrowse link
G Rad51c RAD51 paralog C ISO ClinVar Annotator: match by term: Premature ovarian insufficiency ClinVar PMID:21537932, PMID:22538716, PMID:23117857, PMID:25186627, PMID:25318351, PMID:25470109, PMID:25741868, PMID:26261251, PMID:26740214, PMID:28492532 NCBI chr10:74,697,713...74,724,004
Ensembl chr10:74,697,716...74,724,472
JBrowse link
G Rec8 REC8 meiotic recombination protein ISO ClinVar Annotator: match by term: Premature ovarian insufficiency ClinVar PMID:25741868 NCBI chr15:34,296,922...34,304,387
Ensembl chr15:34,296,922...34,304,552
JBrowse link
G Slc3a1 solute carrier family 3 member 1 ISO ClinVar Annotator: match by term: Premature ovarian insufficiency ClinVar PMID:25741868 NCBI chr 6:8,284,937...8,318,649
Ensembl chr 6:8,284,878...8,318,674
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 chr10:94,451,866...94,460,732
Ensembl chr10:94,451,866...94,460,732
JBrowse link
G Sox3 SRY-box transcription factor 3 ISO ClinVar Annotator: match by term: Premature ovarian insufficiency ClinVar PMID:25741868 NCBI chr  X:144,035,162...144,037,364
Ensembl chr  X:144,035,883...144,037,294
JBrowse link
G Ssh1 slingshot protein phosphatase 1 ISO ClinVar Annotator: match by term: Premature ovarian insufficiency ClinVar PMID:25741868 NCBI chr12:48,403,184...48,447,964
Ensembl chr12:48,403,797...48,446,977
JBrowse link
G Stag1 stromal antigen 1 ISO ClinVar Annotator: match by term: Premature ovarian insufficiency ClinVar PMID:25741868 NCBI chr 8:108,958,099...109,342,738
Ensembl chr 8:108,958,046...109,342,738
JBrowse link
G Stag3 stromal antigen 3 ISO
ISS
ClinVar Annotator: match by term: Premature ovarian failure
OMIM:300510 | OMIM:300511 | OMIM:300604 | OMIM:311360 | OMIM:608996 | OMIM:611548 | OMIM:612310 | OMIM:612964 | OMIM:615723 | OMIM:615724
ClinVar
MouseDO
PMID:25741868 NCBI chr12:19,599,741...19,630,775
Ensembl chr12:19,599,834...19,630,780
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 7:107,467,260...107,652,897
Ensembl chr 7:107,467,260...107,652,899
JBrowse link
G Tp63 tumor protein p63 ISO ClinVar Annotator: match by term: Premature ovarian insufficiency ClinVar PMID:25741868 NCBI chr11:78,234,853...78,456,559
Ensembl chr11:78,234,800...78,456,501
JBrowse link
G Ttc16 tetratricopeptide repeat domain 16 ISO ClinVar Annotator: match by term: Premature ovarian insufficiency ClinVar PMID:25741868 NCBI chr 3:11,799,788...11,811,600
Ensembl chr 3:11,799,612...11,810,901
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 5:157,848,162...157,956,137
Ensembl chr 5:157,848,206...157,956,132
JBrowse link
G Usp53 ubiquitin specific peptidase 53 ISO ClinVar Annotator: match by term: Premature ovarian insufficiency ClinVar PMID:25741868 NCBI chr 2:227,098,795...227,160,385
Ensembl chr 2:227,098,795...227,160,379
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, PMID:25741868, PMID:27153395, PMID:28492532 NCBI chr14:110,739,835...110,883,836
Ensembl chr14:110,739,226...110,883,803
JBrowse link
G Wt1 WT1 transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:26358501 NCBI chr 3:95,133,221...95,180,574
Ensembl chr 3:95,133,713...95,180,564
JBrowse link
G Xpnpep2 X-prolyl aminopeptidase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25568306 NCBI chr  X:134,940,656...134,969,874
Ensembl chr  X:134,940,615...134,969,996
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 9:17,125,201...17,163,170
Ensembl chr 9:17,125,201...17,163,170
JBrowse link
Premature Ovarian Failure 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fmr1 FMRP translational regulator 1 ISO OMIM NCBI chr  X:154,684,924...154,722,369
Ensembl chr  X:154,684,935...154,722,314
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:31042289 NCBI chr20:34,818,093...34,930,157
Ensembl chr20:34,846,804...34,929,965
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, PMID:28492532 NCBI chr 4:72,749,239...72,757,066
Ensembl chr 4:72,751,382...72,756,887
JBrowse link
Premature Ovarian Failure 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 3:125,470,499...125,500,795
Ensembl chr 3:125,470,551...125,500,795
JBrowse link
Premature Ovarian Failure 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:19894250, PMID:22661500, PMID:22904069, PMID:25136123, PMID:25741868, PMID:25820262, PMID:26218421, PMID:27186691, PMID:28492532, PMID:30311386 NCBI chr16:8,734,028...8,804,610
Ensembl chr16:8,734,035...8,804,610
JBrowse link
Premature Ovarian Failure 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 ClinVar
OMIM
PMID:25062452 NCBI chr 1:213,523,638...213,534,641
Ensembl chr 1:213,523,639...213,534,641
JBrowse link
Premature Ovarian Failure 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 chr20:5,020,690...5,037,125
Ensembl chr20:5,020,667...5,037,088
JBrowse link
Premature Ovarian Failure 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
OMIM
PMID:29044499 NCBI chr10:38,782,519...38,793,238
Ensembl chr10:38,788,992...38,792,940
JBrowse link
Premature Ovarian Failure 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 OMIM
ClinVar
PMID:17289582, PMID:18174376, PMID:19379763, PMID:23932590, PMID:24003026, PMID:25288723, PMID:25741868, PMID:28492532, PMID:28837162, PMID:29231814, PMID:30075111, PMID:31700994 NCBI chr 6:86,823,195...86,877,067
Ensembl chr 6:86,823,684...86,876,633
JBrowse link
Premature Ovarian Failure 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 OMIM
ClinVar
PMID:10909 NCBI chr 1:143,793,280...143,818,748
NCBI chr 1:143,869,440...143,878,077
Ensembl chr 1:143,793,064...143,818,706
JBrowse link
Premature Ovarian Failure 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:99,722,910...100,363,228 JBrowse link
Premature Ovarian Failure 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, PMID:28492532, PMID:30311386 NCBI chr  X:84,099,618...84,167,717
Ensembl chr  X:84,099,618...84,167,717
JBrowse link
G Zfp711 zinc finger protein 711 ISO ClinVar Annotator: match by term: Premature ovarian failure 2b ClinVar NCBI chr  X:84,062,363...84,095,888
Ensembl chr  X:84,064,427...84,096,617
JBrowse link
Premature Ovarian Failure 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:29378385, PMID:30311386 NCBI chr 8:107,194,492...107,197,644
Ensembl chr 8:107,194,551...107,195,675
JBrowse link
Premature Ovarian Failure 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:17701902, PMID:18930203, PMID:21837770, PMID:24103315, PMID:25514101, PMID:25960166, PMID:26848058, PMID:28492532, PMID:31042289 NCBI chr 4:72,749,239...72,757,066
Ensembl chr 4:72,751,382...72,756,887
JBrowse link
Premature Ovarian Failure 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:29914564, PMID:30474133 NCBI chr 4:117,679,256...117,683,618
Ensembl chr 4:117,679,342...117,683,411
JBrowse link
Premature Ovarian Failure 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 OMIM:612964
ClinVar Annotator: match by term: ADRENAL INSUFFICIENCY, NR5A1-RELATED
OMIM
ClinVar
PMID:11038323, PMID:11932325, PMID:19246354, PMID:26523528, PMID:27855412 NCBI chr 3:22,998,900...23,020,441
Ensembl chr 3:22,999,616...23,020,441
JBrowse link
Premature Ovarian Failure 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 chr12:19,599,741...19,630,775
Ensembl chr12:19,599,834...19,630,780
JBrowse link
Premature Ovarian Failure 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 chr14:3,879,172...3,961,139
Ensembl chr14:3,882,398...3,960,909
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 2:150,146,234...150,157,480
Ensembl chr 2:150,146,234...150,157,480
JBrowse link
G Fmr1 FMRP translational regulator 1 ISO RGD PMID:22470123 RGD:12050152 NCBI chr  X:154,684,924...154,722,369
Ensembl chr  X:154,684,935...154,722,314
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      endocrine system disease 4997
        gonadal disease 905
          ovarian disease 665
            PRIMARY OVARIAN FAILURE 85
              Ovarian Dysgenesis + 10
              premature ovarian failure + 79
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      Urogenital Diseases 4155
        Female Urogenital Diseases and Pregnancy Complications 1915
          Female Urogenital Diseases 1612
            female reproductive system disease 1608
              Adnexal Diseases 673
                ovarian disease 665
                  PRIMARY OVARIAN FAILURE 85
                    Ovarian Dysgenesis + 10
                    premature ovarian failure + 79
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.