Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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:amenorrhea
go back to main search page
Accession:DOID:13938 term browser browse the term
Definition:A female reproductive system disease that is characterized by the absence of menstruation. (DO)
Synonyms:exact_synonym: absence of menstruation;   amenia;   postpartum amenorrhea;   postpartum amenorrheas;   primary amenorrhea
 primary_id: MESH:D000568
 xref: EFO:0010269;   ICD10CM:N91.2;   ICD9CM:626.0;   NCI:C61443
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
amenorrhea term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G CD1E CD1e molecule ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr38:23,295,037...23,298,004 JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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 More... NCBI chr29:11,115,865...11,284,713
Ensembl chr29:11,156,340...11,283,627
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G FEZF1 FEZ family zinc finger 1 ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:32870266
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G GNRHR gonadotropin releasing hormone receptor ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:9371856 PMID:9425890 PMID:10022417 PMID:10084584 PMID:10523035 More... NCBI chr13:58,253,112...58,266,600
Ensembl chr13:58,253,027...58,266,705
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G HESX1 HESX homeobox 1 ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:21325470 PMID:23465708 PMID:24703149 PMID:25741868 PMID:28492532 More... NCBI chr20:33,193,813...33,197,226
Ensembl chr20:33,195,123...33,196,601
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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 JBrowse link
G 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 JBrowse link
G 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 JBrowse link
G 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
JBrowse link
G 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 JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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 JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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 JBrowse link
G 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
JBrowse link
G 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 JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G POLR3B RNA polymerase III subunit B ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:22855961 PMID:25133958 PMID:25741868 PMID:27029625 PMID:27512013 More... NCBI chr10:32,202,188...32,309,775
Ensembl chr10:32,202,190...32,309,614
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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 More... NCBI chr24:16,351,912...16,364,139
Ensembl chr24:16,351,806...16,375,217
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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 JBrowse link
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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
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
JBrowse link
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 JBrowse link
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
JBrowse link
G 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
JBrowse link
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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
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
JBrowse link
G 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 JBrowse link
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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
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
JBrowse link
G 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
JBrowse link
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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
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
JBrowse link
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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
Schinzel type phocomelia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17775
    disease of anatomical entity 15136
      reproductive system disease 2892
        female reproductive system disease 1907
          amenorrhea 165
            Calloso-Genital Dysplasia 0
            Nonpuerperal Galactorrhea 0
            Schinzel type phocomelia 1
Path 2
Term Annotations click to browse term
  disease 17775
    disease of anatomical entity 15136
      Urogenital Diseases 4712
        Female Urogenital Diseases and Pregnancy Complications 2349
          Female Urogenital Diseases 1910
            female reproductive system disease 1907
              amenorrhea 165
                Calloso-Genital Dysplasia 0
                Nonpuerperal Galactorrhea 0
                Schinzel type phocomelia 1
paths to the root