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.
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ABHD2
abhydrolase domain containing 2, acylglycerol lipase
ISO
ClinVar Annotator: match by term: Primary amenorrhea
ClinVar
PMID:21681106
NCBI chr 3:52,151,500...52,255,024
Ensembl chr 3:52,151,535...52,249,612
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ADAMTSL3
ADAMTS like 3
ISO
ClinVar Annotator: match by term: Primary amenorrhea
ClinVar
PMID:21681106
NCBI chr 3:55,358,869...55,695,198
Ensembl chr 3:55,357,888...55,693,167
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ADARB2
adenosine deaminase RNA specific B2 (inactive)
ISO
ClinVar Annotator: match by term: Primary amenorrhea
ClinVar
PMID:21681106
NCBI chr 2:33,510,081...33,848,968
Ensembl chr 2:33,510,961...33,847,412
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AHCTF1
AT-hook containing transcription factor 1
ISO
ClinVar Annotator: match by term: Primary amenorrhea
ClinVar
PMID:21681106
NCBI chr 7:37,550,045...37,627,428
Ensembl chr 7:37,543,496...37,627,131
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AMELX
amelogenin X-linked
ISO
ClinVar Annotator: match by term: Primary amenorrhea
ClinVar
PMID:21681106
NCBI chr X:7,822,513...7,828,692
Ensembl chr X:7,822,859...7,830,351
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AMFR
autocrine motility factor receptor
ISO
ClinVar Annotator: match by term: Primary amenorrhea
ClinVar
PMID:21681106
NCBI chr 2:59,766,910...59,803,292
Ensembl chr 2:59,767,324...59,801,883
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ANKRD24
ankyrin repeat domain 24
ISO
ClinVar Annotator: match by term: Primary amenorrhea
ClinVar
PMID:21681106
NCBI chr20:55,391,381...55,404,538
Ensembl chr20:55,391,652...55,404,544
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ANOS1
anosmin 1
ISO
ClinVar Annotator: match by term: Amenorrhea
ClinVar
PMID:27657687 PMID:28492532 PMID:32870266
NCBI chr X:5,413,958...5,601,663
Ensembl chr X:5,415,575...5,762,656
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AP3B2
adaptor related protein complex 3 subunit beta 2
ISO
ClinVar Annotator: match by term: Primary amenorrhea
ClinVar
PMID:21681106
NCBI chr 3:54,509,753...54,539,520
Ensembl chr 3:54,508,627...54,539,505
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APBA3
amyloid beta precursor protein binding family A member 3
ISO
ClinVar Annotator: match by term: Primary amenorrhea
ClinVar
PMID:21681106
NCBI chr20:55,712,908...55,720,532
Ensembl chr20:55,713,773...55,721,655
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APC
APC regulator of WNT signaling pathway
ISO
ClinVar Annotator: match by term: Primary amenorrhea
ClinVar
PMID:21681106
NCBI chr 3:252,052...380,506
Ensembl chr 3:253,081...322,993
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ARHGAP6
Rho GTPase activating protein 6
ISO
ClinVar Annotator: match by term: Primary amenorrhea
ClinVar
PMID:21681106
NCBI chr X:7,704,838...8,188,358
Ensembl chr X:7,706,156...7,951,557
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ARSA
arylsulfatase A
ISO
ClinVar Annotator: match by term: Primary amenorrhea
ClinVar
PMID:21681106
NCBI chr10:16,691,927...16,694,346
Ensembl chr10:16,691,758...16,695,398
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ASMTL
acetylserotonin O-methyltransferase like
ISO
ClinVar Annotator: match by term: Primary amenorrhea
ClinVar
PMID:21681106
NCBI chr X:1,102,094...1,118,791
Ensembl chr X:1,100,747...1,118,791
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ATCAY
ATCAY kinesin light chain interacting caytaxin
ISO
ClinVar Annotator: match by term: Primary amenorrhea
ClinVar
PMID:21681106
NCBI chr20:55,610,124...55,641,879
Ensembl chr20:55,612,260...55,641,832
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ATP10B
ATPase phospholipid transporting 10B (putative)
ISO
ClinVar Annotator: match by term: Primary amenorrhea
ClinVar
PMID:21681106
NCBI chr 4:49,856,489...50,163,033
Ensembl chr 4:49,912,397...50,161,319
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AVEN
apoptosis and caspase activation inhibitor
ISO
ClinVar Annotator: match by term: Primary amenorrhea
ClinVar
PMID:21681106
NCBI chr30:1,000,781...1,179,463
Ensembl chr30:991,954...1,179,114
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AXL
AXL receptor tyrosine kinase
ISO
ClinVar Annotator: match by term: Amenorrhea
ClinVar
PMID:25741868 PMID:28492532 PMID:32870266
NCBI chr 1:112,699,679...112,727,434
Ensembl chr 1:112,700,365...112,726,960
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BCAP29
B cell receptor associated protein 29
ISO
ClinVar Annotator: match by term: Primary amenorrhea
ClinVar
PMID:21681106
NCBI chr18:12,969,594...13,021,948
Ensembl chr18:12,970,411...13,022,022
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BMP15
bone morphogenetic protein 15
ISO
ClinVar Annotator: match by term: Primary amenorrhea
ClinVar
PMID:21681106
NCBI chr X:43,765,126...43,771,277
Ensembl chr X:43,764,777...43,771,287
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BMP4
bone morphogenetic protein 4
ISO
ClinVar Annotator: match by term: Primary amenorrhea
ClinVar
PMID:21681106
NCBI chr 8:29,997,563...30,254,307
Ensembl chr 8:29,997,569...30,004,557
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BNC1
basonuclin zinc finger protein 1
ISO
ClinVar Annotator: match by term: Primary amenorrhea
ClinVar
PMID:21681106
NCBI chr 3:55,040,538...55,068,223
Ensembl chr 3:55,040,704...55,068,974
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BTBD1
BTB domain containing 1
ISO
ClinVar Annotator: match by term: Primary amenorrhea
ClinVar
PMID:21681106
NCBI chr 3:54,794,089...54,836,568
Ensembl chr 3:54,795,705...54,827,149
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C3H15orf40
chromosome 3 C15orf40 homolog
ISO
ClinVar Annotator: match by term: Primary amenorrhea
ClinVar
PMID:21681106
NCBI chr 3:54,788,092...54,793,197
Ensembl chr 3:54,657,075...54,794,206
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CAPZA1
capping actin protein of muscle Z-line subunit alpha 1
ISO
ClinVar Annotator: match by term: Primary amenorrhea
ClinVar
PMID:21681106
NCBI chr17:62,900,062...62,948,164
Ensembl chr17:62,901,422...62,948,084
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CCDC148
coiled-coil domain containing 148
ISO
ClinVar Annotator: match by term: Primary amenorrhea
ClinVar
PMID:21681106
NCBI chr36:4,059,318...4,342,353
Ensembl chr36:4,062,098...4,342,287
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CCSER1
coiled-coil serine rich protein 1
ISO
ClinVar Annotator: match by term: Primary amenorrhea
ClinVar
PMID:21681106
NCBI chr32:13,499,042...14,701,862
Ensembl chr32:13,355,503...14,697,519
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CD1E
CD1e molecule
ISO
ClinVar Annotator: match by term: Primary amenorrhea
ClinVar
PMID:21681106
NCBI chr38:23,295,037...23,298,004
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CDK13
cyclin dependent kinase 13
ISO
ClinVar Annotator: match by term: Primary amenorrhea
ClinVar
PMID:21681106
NCBI chr18:9,801,350...9,920,401
Ensembl chr18:9,803,535...9,920,281
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CHAF1A
chromatin assembly factor 1 subunit A
ISO
ClinVar Annotator: match by term: Primary amenorrhea
ClinVar
PMID:21681106
NCBI chr20:55,248,286...55,276,425
Ensembl chr20:55,248,288...55,276,900
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CHD7
chromodomain helicase DNA binding protein 7
ISO
ClinVar Annotator: match by term: Amenorrhea
ClinVar
PMID:18414213 PMID:21158681 PMID:22539353 PMID:24033266 PMID:25077900 PMID:25741868 PMID:28492532 PMID:32870266 More...
NCBI chr29:11,115,865...11,284,713
Ensembl chr29:11,156,340...11,283,627
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CNTLN
centlein
ISO
ClinVar Annotator: match by term: Primary amenorrhea
ClinVar
PMID:21681106
NCBI chr11:37,182,288...37,492,121
Ensembl chr11:37,061,451...37,492,049
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CPB2
carboxypeptidase B2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16167916
NCBI chr22:5,074,805...5,126,635
Ensembl chr22:5,074,816...5,126,170
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CPEB1
cytoplasmic polyadenylation element binding protein 1
ISO
ClinVar Annotator: match by term: Primary amenorrhea
ClinVar
PMID:21681106
NCBI chr 3:54,405,140...54,499,614
Ensembl chr 3:54,405,717...54,500,221
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CREB3L3
cAMP responsive element binding protein 3 like 3
ISO
ClinVar Annotator: match by term: Primary amenorrhea
ClinVar
PMID:21681106
NCBI chr20:55,426,406...55,439,070
Ensembl chr20:55,426,813...55,436,882
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CYP17A1
cytochrome P450 family 17 subfamily A member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18645707
NCBI chr28:15,292,959...15,298,896
Ensembl chr28:15,293,106...15,298,852
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CYP19A1
cytochrome P450 family 19 subfamily A member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8265607
NCBI chr30:16,954,020...17,056,728
Ensembl chr30:16,957,215...16,988,353
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CYP2E1
cytochrome P450 family 2 subfamily E member 1
ISO
ClinVar Annotator: match by term: Primary amenorrhea
ClinVar
PMID:21681106
NCBI chr28:41,079,164...41,089,188
Ensembl chr28:41,035,025...41,122,754
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DAPK3
death associated protein kinase 3
ISO
ClinVar Annotator: match by term: Primary amenorrhea
ClinVar
PMID:21681106
NCBI chr20:55,590,199...55,603,883
Ensembl chr20:55,590,223...55,602,682
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DCC
DCC netrin 1 receptor
ISO
ClinVar Annotator: match by term: Amenorrhea
ClinVar
PMID:24808016 PMID:32870266
NCBI chr 1:21,788,833...22,494,849
Ensembl chr 1:21,793,328...22,494,967
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DDX1
DEAD-box helicase 1
ISO
ClinVar Annotator: match by term: Primary amenorrhea
ClinVar
PMID:21681106
NCBI chr17:11,432,060...11,467,000
Ensembl chr17:11,432,136...11,466,990
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DENND6A
DENN domain containing 6A
ISO
ClinVar Annotator: match by term: Primary amenorrhea
ClinVar
PMID:21681106
NCBI chr20:32,780,529...32,830,388
Ensembl chr20:32,780,579...32,830,478
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DIAPH2
diaphanous related formin 2
ISO
ClinVar Annotator: match by term: Primary amenorrhea
ClinVar
PMID:21681106
NCBI chr X:69,994,674...71,044,178
Ensembl chr X:69,994,650...71,043,198
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DLC1
DLC1 Rho GTPase activating protein
ISO
ClinVar Annotator: match by term: Primary amenorrhea
ClinVar
PMID:21681106
NCBI chr16:36,531,754...36,943,033
Ensembl chr16:36,531,754...36,943,033
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DMXL2
Dmx like 2
ISO
ClinVar Annotator: match by term: Amenorrhea
ClinVar
PMID:28492532 PMID:32870266
NCBI chr30:17,156,077...17,308,641
Ensembl chr30:17,156,791...17,308,803
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DUSP19
dual specificity phosphatase 19
ISO
ClinVar Annotator: match by term: Primary amenorrhea
ClinVar
PMID:21681106
NCBI chr36:26,095,436...26,111,700
Ensembl chr36:26,095,463...26,111,774
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DUSP22
dual specificity phosphatase 22
ISO
ClinVar Annotator: match by term: Primary amenorrhea
ClinVar
PMID:21681106
NCBI chr35:678,320...733,225
Ensembl chr35:678,155...732,397
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EBI3
Epstein-Barr virus induced 3
ISO
ClinVar Annotator: match by term: Primary amenorrhea
ClinVar
PMID:21681106
NCBI chr20:55,382,975...55,391,252
Ensembl chr20:55,383,247...55,390,336
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EEF2
eukaryotic translation elongation factor 2
ISO
ClinVar Annotator: match by term: Primary amenorrhea
ClinVar
PMID:21681106
NCBI chr20:55,577,413...55,586,422
Ensembl chr20:55,522,213...55,586,126
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ERI1
exoribonuclease 1
ISO
ClinVar Annotator: match by term: Primary amenorrhea
ClinVar
PMID:21681106
NCBI chr16:35,441,304...35,499,501
Ensembl chr16:35,473,913...35,499,487
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FAM120B
family with sequence similarity 120 member B
ISO
ClinVar Annotator: match by term: Primary amenorrhea
ClinVar
PMID:21681106
NCBI chr12:72,292,419...72,377,839
Ensembl chr12:72,306,154...72,381,786
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FEZF1
FEZ family zinc finger 1
ISO
ClinVar Annotator: match by term: Amenorrhea
ClinVar
PMID:32870266
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FGFR1
fibroblast growth factor receptor 1
ISO
ClinVar Annotator: match by term: Amenorrhea
ClinVar
PMID:32870266
NCBI chr16:27,029,902...27,080,514
Ensembl chr16:27,031,588...27,078,261
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FHIT
fragile histidine triad diadenosine triphosphatase
ISO
ClinVar Annotator: match by term: Primary amenorrhea
ClinVar
PMID:21681106
NCBI chr20:29,735,380...31,113,859
Ensembl chr20:30,356,572...31,113,859
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FLRT3
fibronectin leucine rich transmembrane protein 3
ISO
ClinVar Annotator: match by term: Amenorrhea
ClinVar
PMID:32870266
NCBI chr24:8,354,151...8,367,601
Ensembl chr24:8,364,115...8,366,064
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FSD1
fibronectin type III and SPRY domain containing 1
ISO
ClinVar Annotator: match by term: Primary amenorrhea
ClinVar
PMID:21681106
NCBI chr20:55,333,937...55,344,861
Ensembl chr20:55,333,785...55,344,843
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FSD2
fibronectin type III and SPRY domain containing 2
ISO
ClinVar Annotator: match by term: Primary amenorrhea
ClinVar
PMID:21681106
NCBI chr 3:54,580,878...54,622,195
Ensembl chr 3:54,581,923...54,605,459
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FSHB
follicle stimulating hormone subunit beta
ISO
CTD Direct Evidence: marker/mechanism follicle-stimulating hormone deficiency,OMIM:229070;DNA:frameshift
CTD RGD
PMID:8220432
RGD:1601221
NCBI chr21:50,279,320...50,282,843
Ensembl chr21:50,280,208...50,282,680
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FSHR
follicle stimulating hormone receptor
ISO
ClinVar Annotator: match by term: Amenorrhea
ClinVar
PMID:25741868
NCBI chr10:50,765,591...50,938,643
Ensembl chr10:50,770,995...50,938,474
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FZD6
frizzled class receptor 6
ISO
ClinVar Annotator: match by term: Primary amenorrhea
ClinVar
PMID:21681106
NCBI chr13:4,732,541...4,771,294
Ensembl chr13:4,733,017...4,772,115
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GABRB2
gamma-aminobutyric acid type A receptor subunit beta2
ISO
ClinVar Annotator: match by term: Primary amenorrhea
ClinVar
PMID:21681106
NCBI chr 4:49,342,527...49,579,697
Ensembl chr 4:49,342,508...49,578,092
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GADL1
glutamate decarboxylase like 1
ISO
ClinVar Annotator: match by term: Primary amenorrhea
ClinVar
PMID:21681106
NCBI chr23:13,697,028...13,859,980
Ensembl chr23:13,696,741...13,859,358
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GNRH1
gonadotropin releasing hormone 1
ISO
ClinVar Annotator: match by term: Amenorrhea
ClinVar
PMID:32870266
NCBI chr25:32,038,631...32,043,192
Ensembl chr25:32,039,613...32,043,028
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GNRHR
gonadotropin releasing hormone receptor
ISO
ClinVar Annotator: match by term: Amenorrhea
ClinVar
PMID:9371856 PMID:9425890 PMID:10022417 PMID:10084584 PMID:10523035 PMID:10690855 PMID:12574221 PMID:16968799 PMID:22724017 PMID:22745237 PMID:24732674 PMID:25741868 PMID:26207952 PMID:28492532 PMID:28611058 PMID:29182666 PMID:32870266 PMID:33223529 More...
NCBI chr13:58,253,112...58,266,600
Ensembl chr13:58,253,027...58,266,705
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GPBP1L1
GC-rich promoter binding protein 1 like 1
ISO
ClinVar Annotator: match by term: Primary amenorrhea
ClinVar
PMID:21681106
NCBI chr15:14,672,628...14,734,045
Ensembl chr15:14,701,923...14,734,056
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GPR37L1
G protein-coupled receptor 37 like 1
ISO
ClinVar Annotator: match by term: Primary amenorrhea
ClinVar
PMID:21681106
NCBI chr 7:882,672...887,679
Ensembl chr 7:883,279...887,811
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GXYLT1
glucoside xylosyltransferase 1
ISO
ClinVar Annotator: match by term: Primary amenorrhea
ClinVar
PMID:21681106
NCBI chr27:11,754,609...11,810,245
Ensembl chr27:11,765,072...11,807,787
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HESX1
HESX homeobox 1
ISO
ClinVar Annotator: match by term: Amenorrhea
ClinVar
PMID:21325470 PMID:23465708 PMID:24703149 PMID:25741868 PMID:28492532 PMID:32870266 More...
NCBI chr20:33,193,813...33,197,226
Ensembl chr20:33,195,123...33,196,601
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IPP
intracisternal A particle-promoted polypeptide
ISO
ClinVar Annotator: match by term: Primary amenorrhea
ClinVar
PMID:21681106
NCBI chr15:14,621,969...14,669,728
Ensembl chr15:14,621,600...14,669,561
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KBTBD12
kelch repeat and BTB domain containing 12
ISO
ClinVar Annotator: match by term: Primary amenorrhea
ClinVar
PMID:21681106
NCBI chr20:1,955,638...2,034,355
Ensembl chr20:1,964,607...2,032,036
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KL
klotho
ISO
ClinVar Annotator: match by term: Amenorrhea
ClinVar
PMID:25741868 PMID:32870266
NCBI chr25:7,154,359...7,201,744
Ensembl chr25:7,156,620...7,199,558
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KLB
klotho beta
ISO
ClinVar Annotator: match by term: Amenorrhea
ClinVar
PMID:32870266
NCBI chr 3:72,996,725...73,033,566
Ensembl chr 3:72,998,816...73,033,651
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LHX3
LIM homeobox 3
ISO
ClinVar Annotator: match by term: Amenorrhea
ClinVar
PMID:32870266
NCBI chr 9:49,248,555...49,254,128
Ensembl chr 9:49,248,621...49,254,118
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LOC100684393
small nuclear ribonucleoprotein-associated proteins B and B'
ISO
ClinVar Annotator: match by term: Primary amenorrhea
ClinVar
PMID:21681106
NCBI chr20:55,349,126...55,350,721
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LOC106559648
zinc finger protein OZF-like
ISO
ClinVar Annotator: match by term: Primary amenorrhea
ClinVar
PMID:21681106
NCBI chr 1:103,910,582...103,934,056
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LOC477391
zinc finger protein 596-like
ISO
ClinVar Annotator: match by term: Primary amenorrhea
ClinVar
PMID:21681106
NCBI chr25:37,275,514...37,308,518
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LOC478089
general transcription factor IIH subunit 2
ISO
ClinVar Annotator: match by term: Primary amenorrhea
ClinVar
PMID:21681106
NCBI chr 2:54,553,871...54,579,695
Ensembl chr 2:54,554,578...54,628,670
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LOC491694
scavenger receptor cysteine-rich domain-containing protein SCART1-like
ISO
ClinVar Annotator: match by term: Primary amenorrhea
ClinVar
PMID:21681106
NCBI chr28:41,012,407...41,021,862
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LRG1
leucine rich alpha-2-glycoprotein 1
ISO
ClinVar Annotator: match by term: Primary amenorrhea
ClinVar
PMID:21681106
NCBI chr20:55,177,777...55,180,382
Ensembl chr20:55,177,824...55,180,369
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LRIG2
leucine rich repeats and immunoglobulin like domains 2
ISO
ClinVar Annotator: match by term: Primary amenorrhea
ClinVar
PMID:21681106
NCBI chr17:62,487,802...62,548,883
Ensembl chr17:62,489,462...62,548,666
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MACROD2
mono-ADP ribosylhydrolase 2
ISO
ClinVar Annotator: match by term: Amenorrhea
ClinVar
PMID:32870266
NCBI chr24:6,740,943...8,673,524
Ensembl chr24:6,744,744...8,673,275
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MAP2K2
mitogen-activated protein kinase kinase 2
ISO
ClinVar Annotator: match by term: Primary amenorrhea
ClinVar
PMID:21681106
NCBI chr20:55,465,460...55,487,629
Ensembl chr20:55,465,212...55,487,641
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MAST2
microtubule associated serine/threonine kinase 2
ISO
ClinVar Annotator: match by term: Primary amenorrhea
ClinVar
PMID:21681106
NCBI chr15:14,361,225...14,569,502
Ensembl chr15:14,361,281...14,569,878
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MATK
megakaryocyte-associated tyrosine kinase
ISO
ClinVar Annotator: match by term: Primary amenorrhea
ClinVar
PMID:21681106
NCBI chr20:55,697,377...55,704,212
Ensembl chr20:55,698,350...55,704,022
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MGLL
monoglyceride lipase
ISO
ClinVar Annotator: match by term: Primary amenorrhea
ClinVar
PMID:21681106
NCBI chr20:1,765,650...1,880,710
Ensembl chr20:1,766,216...1,943,588
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MIR1839
microRNA mir-1839
ISO
ClinVar Annotator: match by term: Primary amenorrhea
ClinVar
PMID:21681106
NCBI chr 3:54,579,692...54,579,764
Ensembl chr 3:54,579,692...54,579,764
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MOV10
Mov10 RNA helicase
ISO
ClinVar Annotator: match by term: Primary amenorrhea
ClinVar
PMID:21681106
NCBI chr17:62,872,607...62,896,208
Ensembl chr17:62,872,756...62,896,395
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MPND
MPN domain containing
ISO
ClinVar Annotator: match by term: Primary amenorrhea
ClinVar
PMID:21681106
NCBI chr20:55,311,890...55,320,226
Ensembl chr20:55,304,529...55,320,196
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MRPL54
mitochondrial ribosomal protein L54
ISO
ClinVar Annotator: match by term: Primary amenorrhea
ClinVar
PMID:21681106
NCBI chr20:55,709,341...55,712,729
Ensembl chr20:55,710,281...55,712,268
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MSL3
MSL complex subunit 3
ISO
ClinVar Annotator: match by term: Primary amenorrhea
ClinVar
PMID:21681106
NCBI chr X:8,294,797...8,311,142
Ensembl chr X:8,294,802...8,310,751
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MYCN
MYCN proto-oncogene, bHLH transcription factor
ISO
ClinVar Annotator: match by term: Primary amenorrhea
ClinVar
PMID:21681106
NCBI chr17:11,720,857...11,724,308
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NBAS
NBAS subunit of NRZ tethering complex
ISO
ClinVar Annotator: match by term: Primary amenorrhea
ClinVar
PMID:21681106
NCBI chr17:11,091,536...11,410,284
Ensembl chr17:11,091,543...11,430,839
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NCAM2
neural cell adhesion molecule 2
ISO
ClinVar Annotator: match by term: Primary amenorrhea
ClinVar
PMID:21681106
NCBI chr31:16,912,768...17,434,854
Ensembl chr31:16,912,908...17,429,510
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NCKAP5
NCK associated protein 5
ISO
ClinVar Annotator: match by term: Primary amenorrhea
ClinVar
PMID:21681106
NCBI chr19:35,631,900...36,588,124
Ensembl chr19:35,632,939...36,449,082
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NKX2-6
NK2 homeobox 6
ISO
ClinVar Annotator: match by term: Primary amenorrhea
ClinVar
PMID:21681106
NCBI chr25:33,781,294...33,787,460
Ensembl chr25:33,781,249...33,785,761
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NKX3-1
NK3 homeobox 1
ISO
ClinVar Annotator: match by term: Primary amenorrhea
ClinVar
PMID:21681106
NCBI chr25:33,815,343...33,817,465
Ensembl chr25:33,815,095...33,817,474
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NUP35
nucleoporin 35
ISO
ClinVar Annotator: match by term: Primary amenorrhea
ClinVar
PMID:21681106
NCBI chr36:26,128,838...26,168,664
Ensembl chr36:26,135,065...26,168,298
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OCLN
occludin
ISO
ClinVar Annotator: match by term: Primary amenorrhea
ClinVar
PMID:21681106
NCBI chr 2:54,500,299...54,545,430
Ensembl chr 2:54,500,299...54,545,430
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OR51B5
olfactory receptor family 51 subfamily B member 5
ISO
ClinVar Annotator: match by term: Primary amenorrhea
ClinVar
PMID:21681106
NCBI chr21:28,262,174...28,263,112
Ensembl chr21:28,281,456...28,282,394
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OR51I2P
olfactory receptor family 51 subfamily I member 2, pseudogene
ISO
ClinVar Annotator: match by term: Primary amenorrhea
ClinVar
PMID:21681106
NCBI chr21:28,525,381...28,527,479
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OTUD4
OTU deubiquitinase 4
ISO
ClinVar Annotator: match by term: Amenorrhea
ClinVar
PMID:32870266
NCBI chr15:43,816,656...43,861,813
Ensembl chr15:43,818,196...43,861,784
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P2RY8
P2Y receptor family member 8
ISO
ClinVar Annotator: match by term: Primary amenorrhea
ClinVar
PMID:21681106
NCBI chr X:1,060,204...1,097,471
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PCSK5
proprotein convertase subtilisin/kexin type 5
ISO
ClinVar Annotator: match by term: Primary amenorrhea
ClinVar
PMID:21681106
NCBI chr 1:82,088,090...82,506,131
Ensembl chr 1:82,090,664...82,555,145
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PIAS4
protein inhibitor of activated STAT 4
ISO
ClinVar Annotator: match by term: Primary amenorrhea
ClinVar
PMID:21681106
NCBI chr20:55,529,841...55,553,604
Ensembl chr20:55,524,443...55,553,525
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PLIN4
perilipin 4
ISO
ClinVar Annotator: match by term: Primary amenorrhea
ClinVar
PMID:21681106
NCBI chr20:55,192,340...55,204,878
Ensembl chr20:55,192,559...55,203,039
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PLIN5
perilipin 5
ISO
ClinVar Annotator: match by term: Primary amenorrhea
ClinVar
PMID:21681106
NCBI chr20:55,181,171...55,189,369
Ensembl chr20:55,181,198...55,189,366
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PNPLA4
patatin like phospholipase domain containing 4
ISO
ClinVar Annotator: match by term: Primary amenorrhea
ClinVar
PMID:21681106
NCBI chr X:4,775,702...4,925,027
Ensembl chr X:4,874,240...4,924,976
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PNPLA6
patatin like phospholipase domain containing 6
ISO
ClinVar Annotator: match by term: Amenorrhea
ClinVar
PMID:28492532 PMID:32870266
NCBI chr20:52,327,547...52,349,006
Ensembl chr20:52,318,408...52,348,963
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POLR3B
RNA polymerase III subunit B
ISO
ClinVar Annotator: match by term: Amenorrhea
ClinVar
PMID:22855961 PMID:25133958 PMID:25741868 PMID:27029625 PMID:27512013 PMID:28492532 PMID:32345981 PMID:32870266 PMID:33726816 PMID:34440436 PMID:35316923 More...
NCBI chr10:32,202,188...32,309,775
Ensembl chr10:32,202,190...32,309,614
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POR
cytochrome p450 oxidoreductase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:14758361
NCBI chr 6:7,247,780...7,316,282
Ensembl chr 6:7,263,574...7,316,297
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PPM1J
protein phosphatase, Mg2+/Mn2+ dependent 1J
ISO
ClinVar Annotator: match by term: Primary amenorrhea
ClinVar
PMID:21681106
NCBI chr17:62,858,620...62,863,869
Ensembl chr17:62,858,338...62,863,884
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PRKAA1
protein kinase AMP-activated catalytic subunit alpha 1
ISO
ClinVar Annotator: match by term: Primary amenorrhea
ClinVar
PMID:21681106
NCBI chr 4:68,579,061...68,614,548
Ensembl chr 4:68,579,037...68,611,841
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PRL
prolactin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:6777091
NCBI chr35:20,673,830...20,683,824
Ensembl chr35:20,673,839...20,683,824
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PROK2
prokineticin 2
ISO
ClinVar Annotator: match by term: Amenorrhea
ClinVar
PMID:32870266
G
PROKR2
prokineticin receptor 2
ISO
ClinVar Annotator: match by term: Amenorrhea
ClinVar
PMID:17054399 PMID:18682503 PMID:18826963 PMID:20022991 PMID:22466334 PMID:22745195 PMID:24830383 PMID:25741868 PMID:28492532 PMID:29161432 PMID:30773290 PMID:31093944 PMID:32870266 More...
NCBI chr24:16,351,912...16,364,139
Ensembl chr24:16,351,806...16,375,217
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PROP1
PROP paired-like homeobox 1
ISO
ClinVar Annotator: match by term: Primary amenorrhea
ClinVar
PMID:28492532 PMID:32870266
NCBI chr11:2,739,958...2,742,576
Ensembl chr11:2,739,958...2,743,533
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PSMB1
proteasome 20S subunit beta 1
ISO
ClinVar Annotator: match by term: Primary amenorrhea
ClinVar
PMID:21681106
NCBI chr12:72,440,224...72,456,304
Ensembl chr12:72,440,224...72,456,284
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PTCHD1
patched domain containing 1
ISO
ClinVar Annotator: match by term: Primary amenorrhea
ClinVar
PMID:21681106
NCBI chr X:19,096,787...19,153,367
Ensembl chr X:19,096,559...19,148,528
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PUDP
pseudouridine 5'-phosphatase
ISO
ClinVar Annotator: match by term: Primary amenorrhea
ClinVar
PMID:21681106
NCBI chr X:4,185,144...4,325,866
Ensembl chr X:4,247,982...4,325,870
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RAB3GAP1
RAB3 GTPase activating protein catalytic subunit 1
ISO
ClinVar Annotator: match by term: Amenorrhea
ClinVar
PMID:25741868 PMID:26467025 PMID:28492532 PMID:32870266
NCBI chr19:37,861,844...38,006,433
Ensembl chr19:37,861,804...37,963,501
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RAB3GAP2
RAB3 GTPase activating non-catalytic protein subunit 2
ISO
ClinVar Annotator: match by term: Amenorrhea
ClinVar
PMID:25741868 PMID:28492532 PMID:32870266
NCBI chr38:14,927,670...15,025,554
Ensembl chr38:14,928,628...15,025,865
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RAMAC
RNA guanine-7 methyltransferase activating subunit
ISO
ClinVar Annotator: match by term: Primary amenorrhea
ClinVar
PMID:21681106
NCBI chr 3:54,776,831...54,782,047
Ensembl chr 3:54,776,826...54,781,270
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RAX2
retina and anterior neural fold homeobox 2
ISO
ClinVar Annotator: match by term: Primary amenorrhea
ClinVar
PMID:21681106
NCBI chr20:55,706,422...55,709,141
Ensembl chr20:55,707,126...55,708,225
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RHOC
ras homolog family member C
ISO
ClinVar Annotator: match by term: Primary amenorrhea
ClinVar
PMID:21681106
NCBI chr17:62,868,373...62,872,322
G
RREB1
ras responsive element binding protein 1
ISO
ClinVar Annotator: match by term: Primary amenorrhea
ClinVar
PMID:21681106
NCBI chr35:7,120,505...7,255,290
Ensembl chr35:7,120,472...7,255,105
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RYR3
ryanodine receptor 3
ISO
ClinVar Annotator: match by term: Primary amenorrhea
ClinVar
PMID:21681106
NCBI chr30:1,179,575...1,533,352
Ensembl chr30:1,180,359...1,533,619
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SEMA3A
semaphorin 3A
ISO
ClinVar Annotator: match by term: Amenorrhea
ClinVar
PMID:22927827 PMID:28492532 PMID:32870266
NCBI chr18:23,411,607...23,866,631
Ensembl chr18:23,414,576...23,867,098
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SEMA3E
semaphorin 3E
ISO
ClinVar Annotator: match by term: Amenorrhea
ClinVar
PMID:25741868 PMID:28492532 PMID:32870266
NCBI chr18:22,881,135...22,982,549
Ensembl chr18:22,881,133...23,116,696
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SEMA6B
semaphorin 6B
ISO
ClinVar Annotator: match by term: Primary amenorrhea
ClinVar
PMID:21681106
NCBI chr20:55,151,913...55,173,434
Ensembl chr20:55,161,818...55,173,135
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SERF1A
small EDRK-rich factor 1A
ISO
ClinVar Annotator: match by term: Primary amenorrhea
ClinVar
PMID:21681106
NCBI chr 2:54,647,131...54,654,434
Ensembl chr 2:54,647,131...54,654,118
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SH3GL1
SH3 domain containing GRB2 like 1, endophilin A2
ISO
ClinVar Annotator: match by term: Primary amenorrhea
ClinVar
PMID:21681106
NCBI chr20:55,279,622...55,311,579
Ensembl chr20:55,279,621...55,311,536
G
SH3GL3
SH3 domain containing GRB2 like 3, endophilin A3
ISO
ClinVar Annotator: match by term: Primary amenorrhea
ClinVar
PMID:21681106
NCBI chr 3:55,287,460...55,340,736
Ensembl chr 3:55,287,460...55,340,571
G
SHANK3
SH3 and multiple ankyrin repeat domains 3
ISO
ClinVar Annotator: match by term: Primary amenorrhea
ClinVar
PMID:21681106
NCBI chr10:16,621,445...16,665,366
G
SHD
Src homology 2 domain containing transforming protein D
ISO
ClinVar Annotator: match by term: Primary amenorrhea
ClinVar
PMID:21681106
NCBI chr20:55,356,407...55,361,675
Ensembl chr20:55,356,169...55,361,681
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SIRT6
sirtuin 6
ISO
ClinVar Annotator: match by term: Primary amenorrhea
ClinVar
PMID:21681106
NCBI chr20:55,412,989...55,424,944
Ensembl chr20:55,412,646...55,424,944
G
SLC16A1
solute carrier family 16 member 1
ISO
ClinVar Annotator: match by term: Primary amenorrhea
ClinVar
PMID:21681106
NCBI chr17:62,636,600...62,690,491
Ensembl chr17:62,622,902...62,787,481
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SLC5A5
solute carrier family 5 member 5
ISO
ClinVar Annotator: match by term: Primary amenorrhea
ClinVar
PMID:21681106
NCBI chr20:45,017,939...45,030,598
Ensembl chr20:45,018,119...45,030,209
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SLMAP
sarcolemma associated protein
ISO
ClinVar Annotator: match by term: Primary amenorrhea
ClinVar
PMID:21681106
NCBI chr20:32,592,576...32,738,515
Ensembl chr20:32,594,417...32,738,823
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SMN
survival motor neuron
ISO
ClinVar Annotator: match by term: Primary amenorrhea
ClinVar
PMID:21681106
NCBI chr 2:54,596,000...54,636,837
Ensembl chr 2:54,596,008...54,636,804
G
SMYD3
SET and MYND domain containing 3
ISO
ClinVar Annotator: match by term: Primary amenorrhea
ClinVar
PMID:21681106
NCBI chr 7:36,561,080...37,250,336
Ensembl chr 7:36,565,901...37,250,578
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SOX2
SRY-box transcription factor 2
ISO
ClinVar Annotator: match by term: Amenorrhea
ClinVar
PMID:28492532 PMID:32870266
NCBI chr34:14,853,000...14,855,153
G
SPRY4
sprouty RTK signaling antagonist 4
ISO
ClinVar Annotator: match by term: Amenorrhea
ClinVar
PMID:23643382 PMID:24033266 PMID:28492532 PMID:32870266
NCBI chr 2:37,199,890...37,213,710
Ensembl chr 2:37,203,609...37,208,858
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STAP2
signal transducing adaptor family member 2
ISO
ClinVar Annotator: match by term: Primary amenorrhea
ClinVar
PMID:21681106
NCBI chr20:55,325,492...55,336,547
Ensembl chr20:55,325,486...55,336,446
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STS
steroid sulfatase
ISO
ClinVar Annotator: match by term: Primary amenorrhea
ClinVar
PMID:21681106
NCBI chr X:4,396,867...4,470,093
Ensembl chr X:4,325,665...4,467,284
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SYCE1
synaptonemal complex central element protein 1
ISO
ClinVar Annotator: match by term: Primary amenorrhea
ClinVar
PMID:21681106
NCBI chr28:41,149,228...41,157,422
Ensembl chr28:41,149,229...41,157,371
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TACR3
tachykinin receptor 3
ISO
ClinVar Annotator: match by term: Amenorrhea
ClinVar
PMID:32870266
NCBI chr32:24,812,344...24,888,452
Ensembl chr32:24,812,119...24,907,580
G
TAFA3
TAFA chemokine like family member 3
ISO
ClinVar Annotator: match by term: Primary amenorrhea
ClinVar
PMID:21681106
G
TBP
TATA-box binding protein
ISO
ClinVar Annotator: match by term: Primary amenorrhea
ClinVar
PMID:21681106
NCBI chr12:72,458,959...72,479,271
Ensembl chr12:72,459,041...72,479,124
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TJP3
tight junction protein 3
ISO
ClinVar Annotator: match by term: Primary amenorrhea
ClinVar
PMID:21681106
NCBI chr20:55,720,632...55,746,776
Ensembl chr20:55,720,632...55,746,965
G
TM6SF1
transmembrane 6 superfamily member 1
ISO
ClinVar Annotator: match by term: Primary amenorrhea
ClinVar
PMID:21681106
NCBI chr 3:54,852,885...54,933,714
Ensembl chr 3:54,874,894...54,902,805
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TMEM69
transmembrane protein 69
ISO
ClinVar Annotator: match by term: Primary amenorrhea
ClinVar
PMID:21681106
NCBI chr15:14,666,926...14,671,839
Ensembl chr15:14,667,231...14,671,622
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TP63
tumor protein p63
ISO
ClinVar Annotator: match by term: Primary amenorrhea
ClinVar
PMID:21681106
NCBI chr34:21,766,861...21,985,095
Ensembl chr34:21,766,496...21,983,046
G
TSHZ2
teashirt zinc finger homeobox 2
ISO
ClinVar Annotator: match by term: Primary amenorrhea
ClinVar
PMID:21681106
NCBI chr24:39,124,993...39,354,202
Ensembl chr24:38,995,063...39,346,728
G
UBXN6
UBX domain protein 6
ISO
ClinVar Annotator: match by term: Primary amenorrhea
ClinVar
PMID:21681106
NCBI chr20:55,228,026...55,246,333
Ensembl chr20:55,227,729...55,245,940
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VLDLR
very low density lipoprotein receptor
ISO
ClinVar Annotator: match by term: Primary amenorrhea
ClinVar
PMID:21681106
NCBI chr 1:91,242,010...91,277,030
Ensembl chr 1:91,241,509...91,272,495
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WDR11
WD repeat domain 11
ISO
ClinVar Annotator: match by term: Amenorrhea
ClinVar
PMID:32870266
NCBI chr28:30,769,223...30,828,628
Ensembl chr28:30,769,219...30,828,049
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WDR37
WD repeat domain 37
ISO
ClinVar Annotator: match by term: Primary amenorrhea
ClinVar
PMID:21681106
NCBI chr 2:33,865,534...33,912,119
Ensembl chr 2:33,682,418...33,923,843
G
WHAMM
WASP homolog associated with actin, golgi membranes and microtubules
ISO
ClinVar Annotator: match by term: Primary amenorrhea
ClinVar
PMID:21681106
NCBI chr 3:54,625,353...54,645,183
Ensembl chr 3:54,625,263...54,644,644
G
XPO1
exportin 1
ISO
ClinVar Annotator: match by term: Primary amenorrhea
ClinVar
PMID:21681106
NCBI chr10:61,541,647...61,588,397
Ensembl chr10:61,542,211...61,585,054
G
YAF2
YY1 associated factor 2
ISO
ClinVar Annotator: match by term: Primary amenorrhea
ClinVar
PMID:21681106
NCBI chr27:11,676,243...11,746,118
Ensembl chr27:11,675,909...11,744,683
G
YJU2
YJU2 splicing factor homolog
ISO
ClinVar Annotator: match by term: Primary amenorrhea
ClinVar
PMID:21681106
NCBI chr20:55,367,512...55,380,755
Ensembl chr20:55,368,480...55,380,679
G
ZBTB7A
zinc finger and BTB domain containing 7A
ISO
ClinVar Annotator: match by term: Primary amenorrhea
ClinVar
PMID:21681106
NCBI chr20:55,517,531...55,527,071
Ensembl chr20:55,505,916...55,523,736
G
ZFR2
zinc finger RNA binding protein 2
ISO
ClinVar Annotator: match by term: Primary amenorrhea
ClinVar
PMID:21681106
NCBI chr20:55,648,604...55,693,281
Ensembl chr20:55,648,648...55,684,936
G
ZNF217
zinc finger protein 217
ISO
ClinVar Annotator: match by term: Primary amenorrhea
ClinVar
PMID:21681106
NCBI chr24:39,411,531...39,423,614
Ensembl chr24:39,412,277...39,438,204
G
WNT7A
Wnt family member 7A
ISO
ClinVar Annotator: match by term: Schinzel phocomelia syndrome
OMIM ClinVar
PMID:16826533 PMID:20949531 PMID:21271649 PMID:21344627 PMID:25741868
NCBI chr20:4,072,010...4,139,521
Ensembl chr20:4,073,929...4,139,436
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all