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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:Menstruation Disturbances
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Accession:DOID:9004918 term browser browse the term
Definition:Variations of menstruation which may be indicative of disease.
Synonyms:exact_synonym: Hypomenorrhea;   Hypomenorrheas;   Menstruation Disorder;   Menstruation Disorders;   Menstruation Disturbance;   Polymenorrhea;   Polymenorrheas;   Retrograde Menstruation;   Retrograde Menstruations
 primary_id: MESH:D008599;   RDO:0004811
For additional species annotation, visit the Alliance of Genome Resources.


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Al Awadi Syndrome 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: Ulna and fibula absence of with severe limb deficiency
ClinVar Annotator: match by OMIM:276820
OMIM
ClinVar
PMID:16826533, PMID:20949531, PMID:21271649, PMID:21344627 NCBI chr 4:122,994,425...123,040,609
Ensembl chr 4:122,994,425...123,040,609
JBrowse link
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 1:140,998,240...141,087,405
Ensembl chr 1:140,998,240...141,087,405
JBrowse link
G Adamtsl3 ADAMTS-like 3 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 1:144,238,958...144,561,065
Ensembl chr 1:144,239,020...144,561,247
JBrowse link
G Adarb2 adenosine deaminase, RNA-specific, B2 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr17:58,098,979...58,653,137
Ensembl chr17:58,104,559...58,301,260
JBrowse link
G Ahctf1 AT hook containing transcription factor 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr13:98,023,528...98,079,138
Ensembl chr13:98,023,430...98,078,946
JBrowse link
G Amelx amelogenin, X-linked ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr  X:26,439,197...26,450,495
Ensembl chr  X:26,439,197...26,450,495
JBrowse link
G Amfr autocrine motility factor receptor ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr19:11,473,538...11,509,500
Ensembl chr19:11,473,541...11,508,102
JBrowse link
G Ankrd24 ankyrin repeat domain 24 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 7:10,917,359...10,937,522
Ensembl chr 7:10,917,367...10,936,415
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 1:143,284,041...143,315,846
Ensembl chr 1:143,283,996...143,315,633
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 chr 7:11,314,468...11,319,540
Ensembl chr 7:11,314,424...11,319,516
JBrowse link
G Apc APC regulator of WNT signaling pathway ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr18:27,011,710...27,106,323
Ensembl chr18:27,047,382...27,105,531
JBrowse link
G Arhgap6 Rho GTPase activating protein 6 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr  X:26,314,561...26,845,242
Ensembl chr  X:26,315,878...26,376,467
JBrowse link
G Arsa arylsulfatase A ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 7:130,446,644...130,452,632
Ensembl chr 7:130,446,668...130,451,283
JBrowse link
G Asmtl acetylserotonin O-methyltransferase-like ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr12:18,532,090...18,534,761
Ensembl chr12:18,531,990...18,534,836
JBrowse link
G Atcay ATCAY kinesin light chain interacting caytaxin ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 7:11,356,017...11,379,782
Ensembl chr 7:11,356,118...11,380,913
JBrowse link
G Atp10b ATPase phospholipid transporting 10B (putative) ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr10:28,449,248...28,862,423
Ensembl chr10:28,449,335...28,864,255
JBrowse link
G Aven apoptosis and caspase activation inhibitor ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 3:103,980,612...104,117,193
Ensembl chr 3:104,042,168...104,117,192
JBrowse link
G Bcap29 B-cell receptor-associated protein 29 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 6:50,883,758...50,923,743
Ensembl chr 6:50,883,787...50,923,510
JBrowse link
G Bmp15 bone morphogenetic protein 15 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr  X:17,016,831...17,021,894
Ensembl chr  X:17,016,778...17,023,418
JBrowse link
G Bmp4 bone morphogenetic protein 4 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr15:20,776,060...20,791,013
Ensembl chr15:20,776,054...20,822,740
JBrowse link
G Bnc1 basonuclin 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 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
G Btbd1 BTB domain containing 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 1:143,609,729...143,647,124
Ensembl chr 1:143,609,731...143,647,124
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 chr 2:207,305,748...207,350,812
Ensembl chr 2:207,305,752...207,350,812
JBrowse link
G Ccdc148 coiled-coil domain containing 148 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 3:44,892,212...45,210,897
Ensembl chr 3:44,892,219...45,210,474
JBrowse link
G Ccser1 coiled-coil serine-rich protein 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 4:91,235,885...92,516,800
Ensembl chr 4:91,373,942...91,972,325
JBrowse link
G Cdk13 cyclin-dependent kinase 13 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr17:49,833,194...49,922,932
Ensembl chr17:49,833,400...49,921,550
JBrowse link
G Chaf1a chromatin assembly factor 1 subunit A ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 9:11,000,869...11,027,631
Ensembl chr 9:11,001,129...11,027,506
JBrowse link
G Cntln centlein ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 5:103,251,986...103,367,088
Ensembl chr 5:103,251,986...103,366,264
JBrowse link
G Cpb2 carboxypeptidase B2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16167916 NCBI chr15:57,290,849...57,339,762
Ensembl chr15:57,290,849...57,339,760
JBrowse link
G Cpeb1 cytoplasmic polyadenylation element binding protein 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 1:143,171,457...143,278,485
Ensembl chr 1:143,171,264...143,278,485
JBrowse link
G Creb3l3 cAMP responsive element binding protein 3-like 3 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 7:11,490,852...11,499,287
Ensembl chr 7:11,490,852...11,499,282
JBrowse link
G Cyp17a1 cytochrome P450, family 17, subfamily a, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18645707 NCBI chr 1:266,422,127...266,429,947
Ensembl chr 1:266,422,132...266,428,239
JBrowse link
G Cyp19a1 cytochrome P450, family 19, subfamily a, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8265607 NCBI chr 8:58,744,849...58,772,408
Ensembl chr 8:58,744,849...58,772,408
JBrowse link
G Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 1:213,511,892...213,522,195
Ensembl chr 1:213,511,874...213,535,542
JBrowse link
G Dapk3 death-associated protein kinase 3 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 7:11,392,436...11,400,855
Ensembl chr 7:11,392,437...11,400,805
JBrowse link
G Ddx1 DEAD-box helicase 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 6:38,422,892...38,453,762
Ensembl chr 6:38,422,888...38,453,797
JBrowse link
G Dennd6a DENN domain containing 6A ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr16:2,278,701...2,327,062
Ensembl chr16:2,278,701...2,327,062
JBrowse link
G Diaph2 diaphanous-related formin 2 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr  X:99,722,910...100,363,228 JBrowse link
G Dlc1 DLC1 Rho GTPase activating protein ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr16:58,776,489...59,247,752
Ensembl chr16:59,077,574...59,247,754
JBrowse link
G Dusp19 dual specificity phosphatase 19 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 3:67,849,966...67,862,475
Ensembl chr 3:67,849,966...67,862,475
JBrowse link
G Dusp22 dual specificity phosphatase 22 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr17:34,986,589...35,037,297
Ensembl chr17:34,986,591...35,037,076
JBrowse link
G Ebi3 Epstein-Barr virus induced 3 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 9:11,110,874...11,114,843
Ensembl chr 9:11,110,874...11,114,843
JBrowse link
G Eef2 eukaryotic translation elongation factor 2 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 7:11,401,501...11,406,771
Ensembl chr 7:11,401,501...11,406,771
JBrowse link
G Eri1 exoribonuclease 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr16:60,307,148...60,327,237
Ensembl chr16:60,307,148...60,327,236
JBrowse link
G Fam120b family with sequence similarity 120B ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 1:57,345,559...57,392,114
Ensembl chr 1:57,345,577...57,392,113
JBrowse link
G Fhit fragile histidine triad diadenosine triphosphatase ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr15:15,697,292...16,862,873 JBrowse link
G Fsd1 fibronectin type III and SPRY domain containing 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 9:11,076,670...11,080,190
Ensembl chr 9:11,067,369...11,080,155
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 1:143,364,867...143,398,123
Ensembl chr 1:143,364,867...143,398,093
JBrowse link
G Fshb follicle stimulating hormone subunit beta ISO follicle-stimulating hormone deficiency,OMIM:229070;DNA:frameshift
CTD Direct Evidence: marker/mechanism
CTD PMID:8220432, PMID:8220432 RGD:1601221 NCBI chr 3:98,088,321...98,092,131
Ensembl chr 3:98,088,324...98,092,131
JBrowse link
G Fshr follicle stimulating hormone receptor ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:25741868 NCBI chr 6:12,796,383...12,997,817
Ensembl chr 6:12,796,383...12,997,817
JBrowse link
G Fzd6 frizzled class receptor 6 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 7:77,898,329...77,931,034
Ensembl chr 7:77,899,322...77,931,029
JBrowse link
G Gabrb2 gamma-aminobutyric acid type A receptor subunit beta 2 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr10:27,973,694...28,193,072
Ensembl chr10:27,973,681...28,187,565
JBrowse link
G Gadl1 glutamate decarboxylase-like 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 8:123,989,822...124,301,366 JBrowse link
G Gpbp1l1 GC-rich promoter binding protein 1-like 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 5:135,398,926...135,439,772
Ensembl chr 5:135,412,256...135,439,577
JBrowse link
G Gpr37l1 G protein-coupled receptor 37-like 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr13:51,985,698...51,992,547
Ensembl chr13:51,985,684...51,992,693
JBrowse link
G Gtf2h2 general transcription factor IIH subunit 2 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 2:30,494,718...30,522,716
Ensembl chr 2:30,494,825...30,522,727
JBrowse link
G Gxylt1 glucoside xylosyltransferase 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 7:134,447,578...134,495,858
Ensembl chr 7:134,447,578...134,495,835
JBrowse link
G Homer2 homer scaffold protein 2 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 1:143,443,300...143,535,579
Ensembl chr 1:143,443,300...143,535,583
JBrowse link
G Ipp intracisternal A particle-promoted polypeptide ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 5:135,351,767...135,390,363
Ensembl chr 5:135,351,816...135,388,083
JBrowse link
G Kbtbd12 kelch repeat and BTB domain containing 12 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 4:120,492,541...120,567,755
Ensembl chr 4:120,551,599...120,559,078
JBrowse link
G LOC108348302 zinc finger protein 709-like ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr16:21,392,504...21,402,880
Ensembl chr16:21,399,553...21,402,858
JBrowse link
G Lrg1 leucine-rich alpha-2-glycoprotein 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 9:10,952,424...10,954,664
Ensembl chr 9:10,952,374...10,954,681
JBrowse link
G Lrig2 leucine-rich repeats and immunoglobulin-like domains 2 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 2:206,928,708...206,997,915
Ensembl chr 2:206,931,204...206,997,519
JBrowse link
G Map2k2 mitogen activated protein kinase kinase 2 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 7:11,458,971...11,478,520
Ensembl chr 7:11,458,967...11,478,489
JBrowse link
G Mast2 microtubule associated serine/threonine kinase 2 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 5:135,149,336...135,285,337
Ensembl chr 5:135,149,307...135,285,337
JBrowse link
G Matk megakaryocyte-associated tyrosine kinase ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 7:11,325,246...11,334,311
Ensembl chr 7:11,325,254...11,330,278
JBrowse link
G Meis1 Meis homeobox 1 ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:30311386 NCBI chr14:103,182,178...103,321,809
Ensembl chr14:103,181,281...103,321,270
JBrowse link
G Mgll monoglyceride lipase ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 4:120,671,436...120,773,458
Ensembl chr 4:120,671,489...120,771,088
JBrowse link
G Mov10 Mov10 RISC complex RNA helicase ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 2:207,277,088...207,301,245
Ensembl chr 2:207,278,161...207,300,854
JBrowse link
G Mpnd MPN domain containing ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 9:11,055,370...11,061,611
Ensembl chr 9:11,055,371...11,061,611
JBrowse link
G Mrpl54 mitochondrial ribosomal protein L54 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 7:11,321,057...11,323,577
Ensembl chr 7:11,321,057...11,323,577
JBrowse link
G Msl3 MSL complex subunit 3 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr  X:27,015,826...27,033,562
Ensembl chr  X:27,015,884...27,033,555
JBrowse link
G Mycn MYCN proto-oncogene, bHLH transcription factor ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 6:38,222,554...38,228,419
Ensembl chr 6:38,222,555...38,228,379
JBrowse link
G Naip6 NLR family, apoptosis inhibitory protein 6 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 2:30,377,505...30,418,578 JBrowse link
G Nbas NBAS subunit of NRZ tethering complex ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 6:38,474,773...38,777,146
Ensembl chr 6:38,474,804...38,777,806
JBrowse link
G Ncam2 neural cell adhesion molecule 2 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr11:19,669,922...20,705,063
Ensembl chr11:20,471,764...20,705,063
JBrowse link
G Nckap5 NCK-associated protein 5 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr13:42,265,875...43,049,232
Ensembl chr13:42,265,806...42,885,440
JBrowse link
G Nkx2-6 NK2 homeobox 6 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr15:51,034,620...51,038,715
Ensembl chr15:51,034,620...51,038,704
JBrowse link
G Nkx3-1 NK3 homeobox 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr15:51,065,316...51,067,908
Ensembl chr15:51,065,316...51,068,421
JBrowse link
G Nmrk2 nicotinamide riboside kinase 2 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 7:11,382,966...11,386,170
Ensembl chr 7:11,383,116...11,386,948
JBrowse link
G Nup35 nucleoporin 35 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 3:67,866,784...67,896,828
Ensembl chr 3:67,870,111...67,896,153
JBrowse link
G Ocln occludin ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 2:30,527,327...30,577,218
Ensembl chr 2:30,527,715...30,577,218
JBrowse link
G Olr119 olfactory receptor 119 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 1:168,794,481...168,795,434
Ensembl chr 1:168,794,481...168,795,434
JBrowse link
G Olr142 olfactory receptor 142 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 1:169,229,416...169,230,360
Ensembl chr 1:169,229,416...169,230,360
JBrowse link
G Olr143 olfactory receptor 143 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 1:169,240,508...169,241,446
Ensembl chr 1:169,240,508...169,241,446
JBrowse link
G Pcsk5 proprotein convertase subtilisin/kexin type 5 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 1:236,031,988...236,313,858
Ensembl chr 1:236,031,988...236,313,858
JBrowse link
G Pias4 protein inhibitor of activated STAT, 4 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 7:11,414,565...11,428,090
Ensembl chr 7:11,414,446...11,428,552
JBrowse link
G Plin4 perilipin 4 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 9:10,963,494...10,972,360
Ensembl chr 9:10,963,723...10,971,277
JBrowse link
G Plin5 perilipin 5 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 9:10,956,013...10,961,782
Ensembl chr 9:10,956,056...10,961,782
JBrowse link
G Pnpla4 patatin like phospholipase domain containing 4 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr  X:45,519,406...45,522,988
Ensembl chr  X:45,519,228...45,522,665
JBrowse link
G Por cytochrome p450 oxidoreductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:14758361 NCBI chr12:23,998,411...24,017,063
Ensembl chr12:23,998,411...24,046,814
JBrowse link
G Ppm1j protein phosphatase, Mg2+/Mn2+ dependent, 1J ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 2:207,263,307...207,268,601
Ensembl chr 2:207,262,934...207,268,609
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 2:54,857,688...54,893,404
Ensembl chr 2:54,857,688...54,893,404
JBrowse link
G Prl prolactin ISO CTD Direct Evidence: marker/mechanism CTD PMID:6777091 NCBI chr17:39,814,236...39,824,299
Ensembl chr17:39,814,244...39,824,299
JBrowse link
G Psmb1 proteasome 20S subunit beta 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 1:57,470,878...57,491,359
Ensembl chr 1:57,470,632...57,489,727
JBrowse link
G Ptchd1 patched domain containing 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr  X:42,558,912...42,610,430
Ensembl chr  X:42,558,931...42,614,242
JBrowse link
G Pudp pseudouridine 5'-phosphatase ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr18:45,378,357...45,380,797
Ensembl chr18:45,379,707...45,380,730
JBrowse link
G Ramac RNA guanine-7 methyltransferase activating subunit ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 1:143,583,675...143,589,563
Ensembl chr 1:143,583,675...143,589,556
JBrowse link
G RGD1305713 similar to RIKEN cDNA 3110040N11 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 1:143,601,011...143,608,770
Ensembl chr 1:143,601,014...143,607,170
JBrowse link
G Rhoc ras homolog family member C ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 2:207,271,692...207,278,010
Ensembl chr 2:207,271,853...207,279,314
JBrowse link
G Rreb1 ras responsive element binding protein 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr17:27,539,137...27,718,878
Ensembl chr17:27,539,133...27,665,266
JBrowse link
G Ryr3 ryanodine receptor 3 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 3:104,117,307...104,665,151
Ensembl chr 3:104,118,063...104,504,204
JBrowse link
G Scarna15 small Cajal body-specific RNA 15 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 1:143,360,224...143,360,287
Ensembl chr 1:143,360,224...143,360,287
JBrowse link
G Sema6b semaphorin 6B ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 9:10,934,273...10,951,252
Ensembl chr 9:10,941,613...10,951,252
JBrowse link
G Serf1 small EDRK-rich factor 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 2:30,345,861...30,352,114
Ensembl chr 2:30,346,069...30,352,099
JBrowse link
G Sh3gl1 SH3 domain containing GRB2 like 1, endophilin A2 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 9:11,031,847...11,055,285
Ensembl chr 9:11,031,841...11,055,285
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 1:144,069,641...144,200,402
Ensembl chr 1:144,069,638...144,200,397
JBrowse link
G Shank3 SH3 and multiple ankyrin repeat domains 3 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 7:130,474,278...130,534,679
Ensembl chr 7:130,474,279...130,534,679
JBrowse link
G Shd src homology 2 domain-containing transforming protein D ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 9:11,090,048...11,098,813
Ensembl chr 9:11,089,106...11,096,704
JBrowse link
G Sirt6 sirtuin 6 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 7:10,937,622...10,943,048
Ensembl chr 7:10,937,599...10,943,063
JBrowse link
G Slc16a1 solute carrier family 16 member 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 2:207,108,552...207,129,352
Ensembl chr 2:207,108,552...207,128,554
JBrowse link
G Slc5a5 solute carrier family 5 member 5 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr16:20,297,414...20,307,401
Ensembl chr16:20,297,414...20,307,400
JBrowse link
G Slmap sarcolemma associated protein ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr16:2,112,271...2,227,336
Ensembl chr16:2,112,274...2,227,309
JBrowse link
G Smn1 survival of motor neuron 1, telomeric ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 2:30,360,101...30,371,147
Ensembl chr 2:30,360,100...30,371,147
JBrowse link
G Smyd3 SET and MYND domain containing 3 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr13:97,330,120...97,807,813 JBrowse link
G Stap2 signal transducing adaptor family member 2 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 9:11,064,605...11,070,138
Ensembl chr 9:11,064,605...11,070,122
JBrowse link
G Sts steroid sulfatase ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr  X:45,420,418...45,428,748
Ensembl chr  X:45,420,596...45,428,750
JBrowse link
G Syce1 synaptonemal complex central element protein 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 1:213,523,638...213,534,641
Ensembl chr 1:213,523,639...213,534,641
JBrowse link
G Tafa3 TAFA chemokine like family member 3 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 2:207,249,000...207,258,962
Ensembl chr 2:207,252,196...207,255,824
JBrowse link
G Tbp TATA box binding protein ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 1:57,491,381...57,509,335
Ensembl chr 1:57,491,643...57,508,449
JBrowse link
G Tjp3 tight junction protein 3 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 7:11,295,892...11,314,535
Ensembl chr 7:11,295,892...11,315,615
JBrowse link
G Tm6sf1 transmembrane 6 superfamily member 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 1:143,657,607...143,703,829
Ensembl chr 1:143,661,521...143,703,759
JBrowse link
G Tmem69 transmembrane protein 69 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 5:135,394,013...135,397,591
Ensembl chr 5:135,394,016...135,397,591
JBrowse link
G Tp63 tumor protein p63 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr11:78,234,853...78,456,559
Ensembl chr11:78,234,800...78,456,501
JBrowse link
G Tshz2 teashirt zinc finger homeobox 2 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 3:166,469,752...166,748,558
Ensembl chr 3:166,743,544...166,746,597
JBrowse link
G Ubxn6 UBX domain protein 6 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 9:10,995,516...11,000,643
Ensembl chr 9:10,995,198...11,000,642
JBrowse link
G Vldlr very low density lipoprotein receptor ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 1:245,236,819...245,273,688
Ensembl chr 1:245,237,736...245,269,205
JBrowse link
G Wdr37 WD repeat domain 37 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr17:57,983,937...58,051,011
Ensembl chr17:57,983,937...58,050,992
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 1:143,401,986...143,430,356
Ensembl chr 1:143,401,986...143,430,356
JBrowse link
G Xpo1 exportin 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr14:108,007,421...108,049,088
Ensembl chr14:108,007,724...108,049,660
JBrowse link
G Yaf2 YY1 associated factor 2 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 7:134,505,352...134,560,713
Ensembl chr 7:134,505,737...134,560,713
JBrowse link
G Yju2 YJU2 splicing factor homolog ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 9:11,098,914...11,108,806
Ensembl chr 9:11,098,924...11,108,741
JBrowse link
G Zbtb7a zinc finger and BTB domain containing 7a ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 7:11,429,266...11,446,119
Ensembl chr 7:11,432,049...11,444,786
JBrowse link
G Zfp217 zinc finger protein 217 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 3:166,981,419...167,022,349
Ensembl chr 3:166,983,220...166,994,286
JBrowse link
G Zfp870 zinc finger protein 870 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 7:15,158,673...15,172,489
Ensembl chr 7:15,159,422...15,163,866
JBrowse link
G Zfr2 zinc finger RNA binding protein 2 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 7:11,335,024...11,353,743
Ensembl chr 7:11,335,478...11,353,713
JBrowse link
Dysmenorrhea term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Avp arginine vasopressin ISO CTD Direct Evidence: marker/mechanism CTD PMID:10440088 NCBI chr 3:123,117,482...123,119,460
Ensembl chr 3:123,117,492...123,119,460
JBrowse link
G Dnmt3b DNA methyltransferase 3 beta ISO protein:increased expression:ectopic endometrium: RGD PMID:22572543 RGD:9588664 NCBI chr 3:149,131,541...149,170,061
Ensembl chr 3:149,131,785...149,208,786
JBrowse link
G Oxt oxytocin/neurophysin I prepropeptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:10440088 NCBI chr 3:123,106,694...123,107,534
Ensembl chr 3:123,106,694...123,107,534
JBrowse link
Oligomenorrhea term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp17a1 cytochrome P450, family 17, subfamily a, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18645707 NCBI chr 1:266,422,127...266,429,947
Ensembl chr 1:266,422,132...266,428,239
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    Pathological Conditions, Signs and Symptoms 8754
      Pathologic Processes 6130
        Menstruation Disturbances 139
          Dysmenorrhea 3
          Imperforate Hymen 0
          Menorrhagia 0
          Oligomenorrhea 1
          amenorrhea + 136
          premenstrual tension + 0
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.