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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:amenorrhea
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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 3110040N11Rik RIKEN cDNA 3110040N11 gene ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 7:81,430,031...81,439,203
Ensembl chr 7:81,431,930...81,439,226 		JBrowse link
G Abhd2 abhydrolase domain containing 2 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 7:78,923,002...79,015,257
Ensembl chr 7:78,922,947...79,015,256 		JBrowse link
G Adamtsl3 ADAMTS-like 3 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 7:81,984,612...82,263,658
Ensembl chr 7:81,984,902...82,263,658 		JBrowse link
G Adarb2 adenosine deaminase, RNA-specific, B2 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr13:8,252,475...8,818,798
Ensembl chr13:8,252,902...8,818,783 		JBrowse link
G Ahctf1 AT hook containing transcription factor 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 1:179,572,469...179,631,580
Ensembl chr 1:179,572,459...179,631,245 		JBrowse link
G Amelx amelogenin, X-linked ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr  X:167,959,110...167,970,205
Ensembl chr  X:167,959,110...167,970,196 		JBrowse link
G Amfr autocrine motility factor receptor ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 8:94,698,216...94,739,301
Ensembl chr 8:94,698,216...94,739,470 		JBrowse link
G Ankrd24 ankyrin repeat domain 24 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr10:81,464,352...81,483,446
Ensembl chr10:81,464,374...81,483,444 		JBrowse link
G Ap3b2 adaptor-related protein complex 3, beta 2 subunit ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 7:81,110,147...81,143,722
Ensembl chr 7:81,110,147...81,143,673 		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 chr10:81,102,799...81,109,081
Ensembl chr10:81,102,794...81,109,080 		JBrowse link
G Apc APC, WNT signaling pathway regulator ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr18:34,353,350...34,455,243
Ensembl chr18:34,353,977...34,455,605 		JBrowse link
G Arhgap6 Rho GTPase activating protein 6 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr  X:167,578,091...168,087,436
Ensembl chr  X:167,578,095...168,087,431 		JBrowse link
G Arsa arylsulfatase A ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr15:89,356,679...89,361,627
Ensembl chr15:89,356,679...89,361,628 		JBrowse link
G Atcay ataxia, cerebellar, Cayman type ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr10:81,040,338...81,067,037
Ensembl chr10:81,040,342...81,066,667 		JBrowse link
G Atp10b ATPase, class V, type 10B ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr11:42,902,991...43,153,112
Ensembl chr11:43,040,704...43,153,112 		JBrowse link
G Aven apoptosis, caspase activation inhibitor ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 2:112,323,231...112,461,598
Ensembl chr 2:112,323,309...112,464,918 		JBrowse link
G Axl AXL receptor tyrosine kinase ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:25741868 PMID:28492532 PMID:32870266 NCBI chr 7:25,455,925...25,488,502
Ensembl chr 7:25,456,698...25,488,130 		JBrowse link
G Bcap29 B cell receptor associated protein 29 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr12:31,645,353...31,684,657
Ensembl chr12:31,640,966...31,684,657 		JBrowse link
G Bmp15 bone morphogenetic protein 15 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr  X:6,226,108...6,232,778
Ensembl chr  X:6,226,161...6,232,775 		JBrowse link
G Bmp4 bone morphogenetic protein 4 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr14:46,620,982...46,628,126
Ensembl chr14:46,620,977...46,628,126 		JBrowse link
G Bnc1 basonuclin zinc finger protein 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 7:81,616,401...81,642,047
Ensembl chr 7:81,616,401...81,642,055 		JBrowse link
G Btbd1 BTB domain containing 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 7:81,441,822...81,479,262
Ensembl chr 7:81,441,822...81,479,179 		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 3:104,730,097...104,771,821
Ensembl chr 3:104,730,095...104,771,821 		JBrowse link
G Ccdc148 coiled-coil domain containing 148 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 2:58,701,637...58,991,167
Ensembl chr 2:58,711,082...58,991,027 		JBrowse link
G Ccser1 coiled-coil serine rich 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 6:61,156,942...62,359,847
Ensembl chr 6:61,157,308...62,359,849 		JBrowse link
G Cdk13 cyclin dependent kinase 13 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr13:17,885,309...17,979,960
Ensembl chr13:17,884,900...17,979,682 		JBrowse link
G Chaf1a chromatin assembly factor 1, subunit A ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr17:56,347,404...56,375,027
Ensembl chr17:56,347,439...56,379,289 		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 chr 4:8,690,345...8,868,449
Ensembl chr 4:8,690,406...8,867,659 		JBrowse link
G Cntln centlein, centrosomal protein ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 4:84,800,024...85,050,160
Ensembl chr 4:84,802,546...85,050,158 		JBrowse link
G Cpb2 carboxypeptidase B2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16167916 NCBI chr14:75,479,727...75,520,995
Ensembl chr14:75,479,727...75,520,995 		JBrowse link
G Cpeb1 cytoplasmic polyadenylation element binding protein 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 7:80,996,774...81,105,207
Ensembl chr 7:80,996,774...81,105,213 		JBrowse link
G Creb3l3 cAMP responsive element binding protein 3-like 3 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr10:80,920,163...80,934,706
Ensembl chr10:80,920,158...80,934,708 		JBrowse link
G Cyp17a1 cytochrome P450, family 17, subfamily a, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18645707 NCBI chr19:46,655,604...46,661,439
Ensembl chr19:46,655,604...46,661,611 		JBrowse link
G Cyp19a1 cytochrome P450, family 19, subfamily a, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8265607 NCBI chr 9:54,073,221...54,175,448
Ensembl chr 9:54,073,221...54,175,394 		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 7:140,343,732...140,354,903
Ensembl chr 7:140,343,652...140,354,900 		JBrowse link
G Dapk3 death-associated protein kinase 3 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr10:81,018,821...81,029,031
Ensembl chr10:81,018,839...81,029,031 		JBrowse link
G Dcc deleted in colorectal carcinoma ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:24808016 PMID:32870266 NCBI chr18:71,386,703...72,484,299
Ensembl chr18:71,386,705...72,484,140 		JBrowse link
G Ddx1 DEAD box helicase 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr12:13,269,308...13,299,175
Ensembl chr12:13,266,974...13,299,214 		JBrowse link
G Dennd6a DENN domain containing 6A ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr14:26,295,013...26,355,477
Ensembl chr14:26,295,011...26,355,477 		JBrowse link
G Diaph2 diaphanous related formin 2 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr  X:128,650,409...129,366,583
Ensembl chr  X:128,650,491...129,366,583 		JBrowse link
G Dlc1 deleted in liver cancer 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 8:37,034,893...37,420,343
Ensembl chr 8:37,034,905...37,420,297 		JBrowse link
G Dmxl2 Dmx-like 2 ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:28492532 PMID:32870266 NCBI chr 9:54,272,442...54,409,150
Ensembl chr 9:54,272,442...54,408,910 		JBrowse link
G Dusp19 dual specificity phosphatase 19 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 2:80,447,558...80,462,005
Ensembl chr 2:80,447,389...80,462,705 		JBrowse link
G Dusp22 dual specificity phosphatase 22 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr13:30,844,042...30,895,215
Ensembl chr13:30,843,982...30,895,214 		JBrowse link
G Ebi3 Epstein-Barr virus induced gene 3 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr17:56,259,623...56,264,022
Ensembl chr17:56,259,640...56,264,022 		JBrowse link
G Eef2 eukaryotic translation elongation factor 2 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr10:81,012,465...81,018,343
Ensembl chr10:81,012,465...81,018,332 		JBrowse link
G Eri1 exoribonuclease 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 8:35,932,419...35,962,687
Ensembl chr 8:35,932,407...35,963,350 		JBrowse link
G EU599041 expressed sequence EU599041 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 7:42,863,463...42,876,676
Ensembl chr 7:42,863,423...42,890,416 		JBrowse link
G Fam120b family with sequence similarity 120, member B ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr17:15,616,464...15,653,843
Ensembl chr17:15,616,464...15,653,845 		JBrowse link
G Fezf1 Fez family zinc finger 1 ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:32870266 NCBI chr 6:23,245,043...23,250,942
Ensembl chr 6:23,245,043...23,248,361 		JBrowse link
G Fgfr1 fibroblast growth factor receptor 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:32870266 NCBI chr 8:26,008,808...26,067,819
Ensembl chr 8:26,003,670...26,065,734 		JBrowse link
G Fhit fragile histidine triad gene ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr14:11,307,718...12,919,681
Ensembl chr14:11,307,738...12,919,681 		JBrowse link
G Flrt3 fibronectin leucine rich transmembrane protein 3 ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:32870266 NCBI chr 2:140,500,118...140,513,396
Ensembl chr 2:140,492,834...140,513,389 		JBrowse link
G Fsd1 fibronectin type 3 and SPRY domain-containing protein ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr17:56,293,475...56,303,881
Ensembl chr17:56,293,509...56,303,881 		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 7:81,184,102...81,216,729
Ensembl chr 7:81,183,056...81,216,692 		JBrowse link
G Fshb follicle stimulating hormone beta ISO follicle-stimulating hormone deficiency,OMIM:229070;DNA:frameshift
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:8220432 PMID:8220432 RGD:1601221 NCBI chr 2:106,886,331...106,889,996
Ensembl chr 2:106,886,485...106,890,001 		JBrowse link
G Fshr follicle stimulating hormone receptor ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:25741868 NCBI chr17:89,292,380...89,508,103
Ensembl chr17:89,292,380...89,508,103 		JBrowse link
G Fzd6 frizzled class receptor 6 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr15:38,869,673...38,901,587
Ensembl chr15:38,869,429...38,901,583 		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 chr11:42,310,342...42,523,418
Ensembl chr11:42,310,584...42,519,855 		JBrowse link
G Gadl1 glutamate decarboxylase-like 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 9:115,713,739...115,905,244
Ensembl chr 9:115,713,947...115,905,243 		JBrowse link
G Gnrh1 gonadotropin releasing hormone 1 ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:32870266 NCBI chr14:67,982,717...67,986,889
Ensembl chr14:67,982,630...67,986,888 		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 chr 5:86,328,613...86,345,760
Ensembl chr 5:86,328,613...86,345,760 		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 4:116,414,357...116,451,099
Ensembl chr 4:116,414,855...116,451,079 		JBrowse link
G Gpr37l1 G protein-coupled receptor 37-like 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 1:135,087,988...135,095,419
Ensembl chr 1:135,087,972...135,095,419 		JBrowse link
G Gtf2h2 general transcription factor II H, polypeptide 2 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr13:100,596,726...100,629,123
Ensembl chr13:100,596,726...100,629,087 		JBrowse link
G Gxylt1 glucoside xylosyltransferase 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr15:93,137,611...93,173,060
Ensembl chr15:93,137,623...93,173,060 		JBrowse link
G Hesx1 homeobox gene expressed in ES cells ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:21325470 PMID:23465708 PMID:24703149 PMID:25741868 PMID:28492532 More... NCBI chr14:26,716,322...26,724,286
Ensembl chr14:26,716,373...26,724,286 		JBrowse link
G Homer2 homer scaffolding protein 2 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 7:81,250,229...81,356,673
Ensembl chr 7:81,250,229...81,357,275 		JBrowse link
G Ipp IAP promoted placental gene ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 4:116,364,710...116,400,607
Ensembl chr 4:116,364,746...116,395,440 		JBrowse link
G Kbtbd12 kelch repeat and BTB (POZ) domain containing 12 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 6:88,521,931...88,604,636
Ensembl chr 6:88,522,096...88,614,932 		JBrowse link
G Kl klotho ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:25741868 PMID:32870266 NCBI chr 5:150,876,072...150,917,282
Ensembl chr 5:150,876,072...150,917,282 		JBrowse link
G Klb klotho beta ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:32870266 NCBI chr 5:65,505,754...65,544,300
Ensembl chr 5:65,505,657...65,541,350 		JBrowse link
G Lhx3 LIM homeobox protein 3 ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:32870266 NCBI chr 2:26,090,224...26,098,261
Ensembl chr 2:26,090,224...26,098,301 		JBrowse link
G LOC106660621 Sox2 5' regulatory region ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:28492532 PMID:32870266 NCBI chr 3:34,698,540...34,704,381 JBrowse link
G LOC111162622 DeltaNp63 promoter of tumor protein p63 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr16:25,620,454...25,621,054 JBrowse link
G Lrg1 leucine-rich alpha-2-glycoprotein 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr17:56,426,678...56,428,946
Ensembl chr17:56,426,678...56,429,001 		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 3:104,361,296...104,419,251
Ensembl chr 3:104,303,734...104,419,234 		JBrowse link
G Macrod2 mono-ADP ribosylhydrolase 2 ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:32870266 NCBI chr 2:140,237,223...142,234,886
Ensembl chr 2:140,237,229...142,234,886 		JBrowse link
G Map2k2 mitogen-activated protein kinase kinase 2 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr10:80,941,749...80,960,531
Ensembl chr10:80,941,749...80,969,809 		JBrowse link
G Mast2 microtubule associated serine/threonine kinase 2 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 4:116,163,957...116,321,420
Ensembl chr 4:116,163,959...116,321,471 		JBrowse link
G Matk megakaryocyte-associated tyrosine kinase ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr10:81,088,769...81,098,819
Ensembl chr10:81,088,769...81,099,199 		JBrowse link
G Mgll monoglyceride lipase ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 6:88,701,397...88,805,342
Ensembl chr 6:88,701,394...88,805,342 		JBrowse link
G Mir1839 microRNA 1839 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 7:81,179,664...81,179,736
Ensembl chr 7:81,179,664...81,179,736 		JBrowse link
G Mov10 Mov10 RISC complex RNA helicase ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 3:104,702,144...104,725,935
Ensembl chr 3:104,702,152...104,725,879 		JBrowse link
G Mpnd MPN domain containing ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr17:56,316,201...56,323,790
Ensembl chr17:56,312,711...56,323,790 		JBrowse link
G Mrpl54 mitochondrial ribosomal protein L54 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr10:81,100,556...81,102,760
Ensembl chr10:81,100,547...81,102,768 		JBrowse link
G Msl3 MSL complex subunit 3 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr  X:167,434,263...167,456,868
Ensembl chr  X:167,437,113...167,456,894 		JBrowse link
G Mycn v-myc avian myelocytomatosis viral related oncogene, neuroblastoma derived ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr12:12,986,094...12,991,837
Ensembl chr12:12,986,094...12,991,915 		JBrowse link
G Naip2 NLR family, apoptosis inhibitory protein 2 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr13:100,280,571...100,338,630
Ensembl chr13:100,280,571...100,338,600 		JBrowse link
G Nbas neuroblastoma amplified sequence ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr12:13,319,102...13,687,381
Ensembl chr12:13,319,134...13,633,812 		JBrowse link
G Ncam2 neural cell adhesion molecule 2 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr16:80,997,501...81,425,549
Ensembl chr16:80,997,585...81,423,716 		JBrowse link
G Nckap5 NCK-associated protein 5 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 1:125,841,373...126,758,529
Ensembl chr 1:125,841,357...126,758,536 		JBrowse link
G Nkx2-6 NK2 homeobox 6 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr14:69,409,251...69,412,989
Ensembl chr14:69,409,251...69,412,967 		JBrowse link
G Nkx3-1 NK3 homeobox 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr14:69,428,141...69,432,107
Ensembl chr14:69,428,087...69,432,111 		JBrowse link
G Nmrk2 nicotinamide riboside kinase 2 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr10:81,034,004...81,037,871
Ensembl chr10:81,034,004...81,037,885 		JBrowse link
G Nup35 nucleoporin 35 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 2:80,469,156...80,490,415
Ensembl chr 2:80,447,580...80,489,250 		JBrowse link
G Ocln occludin ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr13:100,633,012...100,689,226
Ensembl chr13:100,633,015...100,689,226 		JBrowse link
G Or51ai2 olfactory receptor family 51 subfamily AI member 2 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 7:103,586,589...103,587,542
Ensembl chr 7:103,583,554...103,589,786 		JBrowse link
G Or51i1 olfactory receptor family 51 subfamily I member 1D ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 7:103,670,579...103,671,523
Ensembl chr 7:103,667,893...103,674,780 		JBrowse link
G Or51i2 olfactory receptor family 51 subfamily I member 2 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 7:103,689,005...103,689,943
Ensembl chr 7:103,684,652...103,691,279 		JBrowse link
G Otud4 OTU domain containing 4 ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:32870266 NCBI chr 8:80,366,305...80,404,384
Ensembl chr 8:80,366,247...80,404,353 		JBrowse link
G Pcsk5 proprotein convertase subtilisin/kexin type 5 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr19:17,409,678...17,815,076
Ensembl chr19:17,409,683...17,814,996 		JBrowse link
G Pias4 protein inhibitor of activated STAT 4 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr10:80,989,795...81,003,554
Ensembl chr10:80,989,100...81,003,757 		JBrowse link
G Plin4 perilipin 4 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr17:56,407,587...56,416,947
Ensembl chr17:56,407,591...56,416,803 		JBrowse link
G Plin5 perilipin 5 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr17:56,418,601...56,424,606
Ensembl chr17:56,418,601...56,424,596 		JBrowse link
G Pnpla6 patatin-like phospholipase domain containing 6 ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:28492532 PMID:32870266 NCBI chr 8:3,565,341...3,594,267
Ensembl chr 8:3,565,384...3,594,267 		JBrowse link
G Polr3b polymerase (RNA) III (DNA directed) polypeptide B ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:22855961 PMID:25133958 PMID:25741868 PMID:27029625 PMID:27512013 More... NCBI chr10:84,458,156...84,563,042
Ensembl chr10:84,458,156...84,563,042 		JBrowse link
G Por cytochrome p450 oxidoreductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:14758361 NCBI chr 5:135,698,894...135,764,180
Ensembl chr 5:135,698,887...135,764,180 		JBrowse link
G Ppm1j protein phosphatase 1J ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 3:104,688,322...104,693,334
Ensembl chr 3:104,688,372...104,693,334 		JBrowse link
G Prkaa1 protein kinase, AMP-activated, alpha 1 catalytic subunit ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr15:5,172,641...5,211,380
Ensembl chr15:5,173,343...5,211,380 		JBrowse link
G Prl prolactin ISO CTD Direct Evidence: marker/mechanism CTD PMID:6777091 NCBI chr13:27,241,553...27,249,187
Ensembl chr13:27,241,553...27,249,188 		JBrowse link
G Prok2 prokineticin 2 ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:32870266 NCBI chr 6:99,687,833...99,703,368
Ensembl chr 6:99,688,260...99,703,353 		JBrowse link
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 chr 2:132,211,625...132,227,413
Ensembl chr 2:132,179,653...132,227,367 		JBrowse link
G Prop1 paired like homeodomain factor 1 ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:28492532 PMID:32870266 NCBI chr11:50,841,633...50,844,584
Ensembl chr11:50,841,633...50,844,592 		JBrowse link
G Psmb1 proteasome (prosome, macropain) subunit, beta type 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr17:15,695,983...15,718,538
Ensembl chr17:15,695,283...15,720,013 		JBrowse link
G Ptchd1 patched domain containing 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr  X:154,352,732...154,407,185
Ensembl chr  X:154,356,451...154,406,810 		JBrowse link
G Pudp pseudouridine 5'-phosphatase ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr18:50,700,727...50,701,770
Ensembl chr18:50,696,948...50,734,491 		JBrowse link
G Rab3gap1 RAB3 GTPase activating protein subunit 1 ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:32870266 NCBI chr 1:127,796,492...127,871,612
Ensembl chr 1:127,796,510...127,871,605 		JBrowse link
G Rab3gap2 RAB3 GTPase activating protein subunit 2 ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:25741868 PMID:28492532 PMID:32870266 NCBI chr 1:184,936,287...185,018,953
Ensembl chr 1:184,936,314...185,018,956 		JBrowse link
G Ramac RNA guanine-7 methyltransferase activating subunit ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 7:81,412,701...81,419,238
Ensembl chr 7:81,412,673...81,419,239 		JBrowse link
G Rhoc ras homolog family member C ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 3:104,696,350...104,701,775
Ensembl chr 3:104,695,691...104,701,775 		JBrowse link
G Rreb1 ras responsive element binding protein 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr13:37,962,362...38,135,981
Ensembl chr13:37,962,376...38,135,981 		JBrowse link
G Ryr3 ryanodine receptor 3 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 2:112,461,699...113,047,755
Ensembl chr 2:112,461,700...113,047,441 		JBrowse link
G Scart1 scavenger receptor family member expressed on T cells 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 7:139,777,131...139,811,058
Ensembl chr 7:139,798,180...139,811,058 		JBrowse link
G Sema3a sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:22927827 PMID:25741868 PMID:28492532 PMID:32870266 NCBI chr 5:13,174,789...13,653,453
Ensembl chr 5:13,175,381...13,652,533 		JBrowse link
G Sema3e sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:25741868 PMID:28492532 PMID:32870266 NCBI chr 5:14,075,290...14,306,703
Ensembl chr 5:14,075,290...14,306,703 		JBrowse link
G Sema6b sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr17:56,430,085...56,447,343
Ensembl chr17:56,430,085...56,447,343 		JBrowse link
G Serf1 small EDRK-rich factor 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr13:100,244,563...100,250,741
Ensembl chr13:100,244,520...100,251,079 		JBrowse link
G Sh3gl1 SH3-domain GRB2-like 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr17:56,323,750...56,343,659
Ensembl chr17:56,323,750...56,343,635 		JBrowse link
G Sh3gl3 SH3-domain GRB2-like 3 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 7:81,824,581...81,956,618
Ensembl chr 7:81,823,588...81,956,627 		JBrowse link
G Shank3 SH3 and multiple ankyrin repeat domains 3 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr15:89,376,929...89,444,464
Ensembl chr15:89,383,826...89,444,464 		JBrowse link
G Shd src homology 2 domain-containing transforming protein D ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr17:56,276,828...56,283,624
Ensembl chr17:56,277,467...56,283,625 		JBrowse link
G Sirt6 sirtuin 6 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr10:81,457,621...81,463,631
Ensembl chr10:81,457,619...81,463,631 		JBrowse link
G Slc16a1 solute carrier family 16 (monocarboxylic acid transporters), member 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 3:104,545,980...104,565,778
Ensembl chr 3:104,545,984...104,565,778 		JBrowse link
G Slc5a5 solute carrier family 5 (sodium iodide symporter), member 5 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 8:71,335,529...71,345,429
Ensembl chr 8:71,335,533...71,345,401 		JBrowse link
G Slmap sarcolemma associated protein ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr14:26,134,323...26,256,103
Ensembl chr14:26,134,323...26,256,086 		JBrowse link
G Smn1 survival motor neuron 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr13:100,259,713...100,274,206
Ensembl chr13:100,261,360...100,274,198 		JBrowse link
G Smyd3 SET and MYND domain containing 3 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 1:178,779,525...179,345,618
Ensembl chr 1:178,779,525...179,345,606 		JBrowse link
G Sox2 SRY (sex determining region Y)-box 2 ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:28492532 PMID:32870266 NCBI chr 3:34,704,144...34,706,610
Ensembl chr 3:34,704,554...34,706,610 		JBrowse link
G Sox2ot SOX2 overlapping transcript (non-protein coding) ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:28492532 PMID:32870266 NCBI chr 3:34,614,530...34,732,142
Ensembl chr 3:34,158,419...34,736,768 		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 chr18:38,719,300...38,734,400
Ensembl chr18:38,719,300...38,734,468 		JBrowse link
G Stap2 signal transducing adaptor family member 2 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr17:56,304,074...56,315,558
Ensembl chr17:56,304,077...56,312,584 		JBrowse link
G Sts steroid sulfatase ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr  X:168,856,332...169,015,037
Ensembl chr  X:168,909,030...169,014,924 		JBrowse link
G Syce1 synaptonemal complex central element protein 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 7:140,357,142...140,367,767
Ensembl chr 7:140,357,142...140,367,765 		JBrowse link
G Tacr3 tachykinin receptor 3 ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:32870266 NCBI chr 3:134,534,768...134,640,342
Ensembl chr 3:134,534,768...134,640,340 		JBrowse link
G Tafa3 TAFA chemokine like family member 3 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 3:104,674,721...104,686,854
Ensembl chr 3:104,674,722...104,689,156 		JBrowse link
G Tas2r103 taste receptor, type 2, member 103 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 6:133,013,126...133,014,064
Ensembl chr 6:133,013,126...133,014,064 		JBrowse link
G Tbp TATA box binding protein ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr17:15,720,150...15,737,689
Ensembl chr17:15,720,150...15,748,641 		JBrowse link
G Tjp3 tight junction protein 3 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr10:81,109,022...81,127,415
Ensembl chr10:81,109,041...81,127,415 		JBrowse link
G Tm6sf1 transmembrane 6 superfamily member 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 7:81,507,810...81,533,827
Ensembl chr 7:81,508,749...81,534,182 		JBrowse link
G Tmem69 transmembrane protein 69 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 4:116,408,725...116,414,262
Ensembl chr 4:116,409,102...116,413,132 		JBrowse link
G Trp63 transformation related protein 63 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr16:25,502,513...25,710,842
Ensembl chr16:25,502,513...25,710,852 		JBrowse link
G Tshz2 teashirt zinc finger family member 2 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 2:169,474,430...169,914,671
Ensembl chr 2:169,474,933...169,913,736 		JBrowse link
G Ubxn6 UBX domain protein 6 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr17:56,374,045...56,386,333
Ensembl chr17:56,374,045...56,382,028 		JBrowse link
G Vldlr very low density lipoprotein receptor ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr19:27,190,070...27,231,631
Ensembl chr19:27,193,884...27,231,631 		JBrowse link
G Wdr11 WD repeat domain 11 ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:32870266 NCBI chr 7:129,193,373...129,237,462
Ensembl chr 7:129,193,587...129,237,462 		JBrowse link
G Wdr37 WD repeat domain 37 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr13:8,853,002...8,922,136
Ensembl chr13:8,853,004...8,921,945 		JBrowse link
G Wfdc17 WAP four-disulfide core domain 17 ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:25741868 PMID:27657687 PMID:28492532 PMID:32870266 NCBI chr11:83,594,882...83,597,095
Ensembl chr11:83,594,817...83,597,094 		JBrowse link
G Whamm WAS protein homolog associated with actin, golgi membranes and microtubules ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 7:81,220,403...81,246,585
Ensembl chr 7:81,221,014...81,246,584 		JBrowse link
G Xpo1 exportin 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr11:23,205,768...23,248,250
Ensembl chr11:23,206,055...23,248,249 		JBrowse link
G Yaf2 YY1 associated factor 2 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr15:93,181,714...93,234,816
Ensembl chr15:93,182,159...93,234,816 		JBrowse link
G Yju2 YJU2 splicing factor ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr17:56,266,187...56,274,951
Ensembl chr17:56,266,099...56,275,285 		JBrowse link
G Zbtb7a zinc finger and BTB domain containing 7a ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr10:80,971,113...80,988,056
Ensembl chr10:80,971,054...80,988,829 		JBrowse link
G Zfp217 zinc finger protein 217 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 2:169,950,563...169,993,598
Ensembl chr 2:169,950,563...169,990,023 		JBrowse link
G Zfp870 zinc finger protein 870 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr17:33,098,193...33,110,621
Ensembl chr17:33,098,193...33,110,616 		JBrowse link
G Zfr2 zinc finger RNA binding protein 2 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr10:81,068,967...81,087,957
Ensembl chr10:81,068,989...81,087,957 		JBrowse link
Schinzel type phocomelia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wnt7a wingless-type MMTV integration site family, member 7A ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Schinzel phocomelia syndrome		 OMIM
CTD
ClinVar		 PMID:16826533 PMID:20949531 PMID:21271649 PMID:21344627 PMID:25741868 NCBI chr 6:91,340,963...91,388,335
Ensembl chr 6:91,340,963...91,388,345 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18300
    disease of anatomical entity 15630
      reproductive system disease 2972
        female reproductive system disease 1962
          amenorrhea 167
            Calloso-Genital Dysplasia 0
            Nonpuerperal Galactorrhea 0
            Schinzel type phocomelia 1
Path 2
Term Annotations click to browse term
  disease 18300
    disease of anatomical entity 15630
      Urogenital Diseases 4892
        Female Urogenital Diseases and Pregnancy Complications 2429
          Female Urogenital Diseases 1965
            female reproductive system disease 1962
              amenorrhea 167
                Calloso-Genital Dysplasia 0
                Nonpuerperal Galactorrhea 0
                Schinzel type phocomelia 1
paths to the root