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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 Abhd2 abhydrolase domain containing 2, acylglycerol lipase ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 1:133,217,403...133,298,564
Ensembl chr 1:133,217,375...133,299,061 		JBrowse link
G Adamtsl3 ADAMTS-like 3 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 1:136,288,793...136,596,986
Ensembl chr 1:136,288,793...136,596,986 		JBrowse link
G Adarb2 adenosine deaminase RNA specific B2 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr17:61,750,437...62,300,984
Ensembl chr17:61,756,067...62,300,831 		JBrowse link
G Ahctf1 AT hook containing transcription factor 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr13:91,481,936...91,536,391
Ensembl chr13:91,481,936...91,536,391 		JBrowse link
G Amelx amelogenin, X-linked ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr  X:25,076,362...25,087,660
Ensembl chr  X:25,076,362...25,087,660 		JBrowse link
G Amfr autocrine motility factor receptor ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr19:10,996,705...11,032,260
Ensembl chr19:10,996,099...11,032,247 		JBrowse link
G Ankrd24 ankyrin repeat domain 24 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 7:8,061,634...8,081,142
Ensembl chr 7:8,061,953...8,081,142 		JBrowse link
G Anos1 anosmin 1 ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:25741868 PMID:27657687 PMID:28492532 PMID:32870266 NCBI chr10:68,561,954...68,562,801
Ensembl chr10:68,561,954...68,562,801 		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 1:135,412,580...135,445,191
Ensembl chr 1:135,412,580...135,445,191 		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 7:8,446,212...8,451,310
Ensembl chr 7:8,446,216...8,451,241 		JBrowse link
G Apc APC regulator of WNT signaling pathway ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr18:25,828,558...25,925,511
Ensembl chr18:25,864,222...25,922,696 		JBrowse link
G Arhgap6 Rho GTPase activating protein 6 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr  X:24,953,464...25,490,003
Ensembl chr  X:24,953,464...25,488,663 		JBrowse link
G Arsa arylsulfatase A ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 7:120,542,788...120,547,577
Ensembl chr 7:120,543,362...120,548,783 		JBrowse link
G Asmtl acetylserotonin O-methyltransferase-like ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr12:16,315,335...16,318,083
Ensembl chr12:16,315,414...16,318,080 		JBrowse link
G Atcay ATCAY kinesin light chain interacting caytaxin ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 7:8,487,763...8,511,527
Ensembl chr 7:8,487,763...8,512,663 		JBrowse link
G Atp10b ATPase phospholipid transporting 10B ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr10:27,495,207...27,751,313
Ensembl chr10:27,408,747...27,749,637 		JBrowse link
G Aven apoptosis and caspase activation inhibitor ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 3:99,299,009...99,431,635
Ensembl chr 3:99,298,930...99,431,634 		JBrowse link
G Axl Axl receptor tyrosine kinase ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:25741868 PMID:28492532 PMID:32870266 NCBI chr 1:81,265,088...81,296,278
Ensembl chr 1:81,265,088...81,296,265 		JBrowse link
G Bcap29 B-cell receptor-associated protein 29 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 6:48,182,702...48,222,698
Ensembl chr 6:48,182,706...48,222,720 		JBrowse link
G Bmp15 bone morphogenetic protein 15 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr  X:16,169,123...16,174,187
Ensembl chr  X:16,169,123...16,174,187 		JBrowse link
G Bmp4 bone morphogenetic protein 4 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306 		JBrowse link
G Bnc1 basonuclin zinc finger protein 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 1:135,917,676...135,943,333
Ensembl chr 1:135,917,687...135,943,333 		JBrowse link
G Btbd1 BTB domain containing 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 1:135,734,549...135,773,067
Ensembl chr 1:135,734,589...135,771,981 		JBrowse link
G C1h15orf40 similar to human chromosome 15 open reading frame 40 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 1:135,725,869...135,732,028
Ensembl chr 1:135,717,545...135,732,039 		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 2:192,319,696...192,364,755
Ensembl chr 2:192,319,702...192,364,480 		JBrowse link
G Ccdc148 coiled-coil domain containing 148 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 3:43,356,885...43,631,999
Ensembl chr 3:43,356,892...43,631,991 		JBrowse link
G Ccser1 coiled-coil serine-rich protein 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 4:90,153,873...91,391,441
Ensembl chr 4:90,292,780...91,388,786 		JBrowse link
G Cdk13 cyclin-dependent kinase 13 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr17:47,251,145...47,344,675
Ensembl chr17:47,251,163...47,341,721 		JBrowse link
G Chaf1a chromatin assembly factor 1 subunit A ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 9:873,953...900,701
Ensembl chr 9:874,051...900,654 		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 5:21,812,007...21,995,358
Ensembl chr 5:21,812,070...21,995,358 		JBrowse link
G Cntln centlein ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 5:99,295,865...99,576,402
Ensembl chr 5:99,296,000...99,576,396 		JBrowse link
G Cpb2 carboxypeptidase B2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16167916 NCBI chr15:50,557,722...50,606,569
Ensembl chr15:50,557,717...50,606,556 		JBrowse link
G Cpeb1 cytoplasmic polyadenylation element binding protein 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 1:135,300,048...135,407,688
Ensembl chr 1:135,300,461...135,409,760 		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 7:8,622,614...8,631,053
Ensembl chr 7:8,622,614...8,631,048 		JBrowse link
G Cyp17a1 cytochrome P450, family 17, subfamily a, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18645707 NCBI chr 1:245,535,462...245,543,148
Ensembl chr 1:245,535,462...245,541,573 		JBrowse link
G Cyp19a1 cytochrome P450, family 19, subfamily a, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8265607 NCBI chr 8:54,552,978...54,580,375
Ensembl chr 8:54,553,165...54,580,758 		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 1:195,840,330...195,850,728
Ensembl chr 1:195,840,058...195,864,023 		JBrowse link
G Dapk3 death-associated protein kinase 3 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 7:8,524,182...8,532,552
Ensembl chr 7:8,524,183...8,532,558 		JBrowse link
G Dcc DCC netrin 1 receptor ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:24808016 PMID:25741868 PMID:32870266 NCBI chr18:64,868,987...65,972,783
Ensembl chr18:64,873,898...65,972,740 		JBrowse link
G Ddx1 DEAD-box helicase 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 6:35,996,469...36,027,340
Ensembl chr 6:35,996,469...36,027,365 		JBrowse link
G Dennd6a DENN domain containing 6A ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr16:1,837,019...1,885,420
Ensembl chr16:1,837,059...1,885,420 		JBrowse link
G Diaph2 diaphanous-related formin 2 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr  X:92,395,189...93,234,521
Ensembl chr  X:92,395,251...93,229,869 		JBrowse link
G Dlc1 DLC1 Rho GTPase activating protein ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr16:55,246,716...55,671,441
Ensembl chr16:55,291,584...55,671,439 		JBrowse link
G Dmxl2 Dmx-like 2 ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:28492532 PMID:32870266 NCBI chr 8:54,741,164...54,884,948
Ensembl chr 8:54,741,160...54,885,161 		JBrowse link
G Dusp19 dual specificity phosphatase 19 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 3:65,538,424...65,554,465
Ensembl chr 3:65,538,420...65,553,534 		JBrowse link
G Dusp22 dual specificity phosphatase 22 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr17:33,780,980...33,831,241
Ensembl chr17:33,780,981...33,831,321 		JBrowse link
G Ebi3 Epstein-Barr virus induced 3 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 9:774,252...787,544
Ensembl chr 9:783,617...787,544 		JBrowse link
G Eef2 eukaryotic translation elongation factor 2 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 7:8,533,248...8,538,518
Ensembl chr 7:8,533,116...8,559,183 		JBrowse link
G Eri1 exoribonuclease 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr16:56,724,101...56,744,228
Ensembl chr16:56,724,115...56,744,226 		JBrowse link
G Fam120b family with sequence similarity 120 member B ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 1:56,320,015...56,385,064
Ensembl chr 1:56,339,129...56,385,061 		JBrowse link
G Fezf1 Fez family zinc finger 1 ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:32870266 NCBI chr 4:51,762,751...51,766,078
Ensembl chr 4:51,762,751...51,766,078 		JBrowse link
G Fgfr1 Fibroblast growth factor receptor 1 ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:32870266 NCBI chr16:66,491,930...66,547,161
Ensembl chr16:66,494,042...66,547,350 		JBrowse link
G Fhit fragile histidine triad diadenosine triphosphatase ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr15:13,935,029...15,442,620
Ensembl chr15:13,934,995...15,442,340 		JBrowse link
G Flrt3 fibronectin leucine rich transmembrane protein 3 ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:32870266 NCBI chr 3:127,994,491...128,008,137
Ensembl chr 3:127,994,226...128,007,841 		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 9:818,241...821,761
Ensembl chr 9:818,263...828,185 		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 1:135,484,002...135,522,517
Ensembl chr 1:135,489,266...135,522,472 		JBrowse link
G Fshb follicle stimulating hormone subunit 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 3:93,548,560...93,552,370
Ensembl chr 3:93,548,560...93,552,370 		JBrowse link
G Fshr follicle stimulating hormone receptor ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:25741868 NCBI chr 6:5,198,825...5,406,785
Ensembl chr 6:5,198,825...5,406,785 		JBrowse link
G Fzd6 frizzled class receptor 6 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 7:70,055,012...70,086,781
Ensembl chr 7:70,055,068...70,086,776 		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 chr10:26,936,592...27,156,141
Ensembl chr10:26,936,551...27,151,251 		JBrowse link
G Gadl1 glutamate decarboxylase-like 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 8:115,605,609...115,785,676
Ensembl chr 8:115,605,873...115,784,410 		JBrowse link
G Gnrh1 gonadotropin releasing hormone 1 ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:32870266 NCBI chr15:41,972,482...41,976,690
Ensembl chr15:41,972,905...41,973,581
Ensembl chr15:41,972,905...41,973,581 		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 chr14:21,856,871...21,874,861
Ensembl chr14:21,856,871...21,874,861 		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 5:130,009,768...130,050,636
Ensembl chr 5:130,023,137...130,050,459 		JBrowse link
G Gpr37l1 G protein-coupled receptor 37-like 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr13:46,598,574...46,605,421
Ensembl chr13:46,598,578...46,605,421 		JBrowse link
G Gtf2h2 general transcription factor IIH subunit 2 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 2:31,623,752...31,652,697
Ensembl chr 2:31,624,678...31,652,592 		JBrowse link
G Gxylt1 glucoside xylosyltransferase 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 7:124,400,896...124,434,682
Ensembl chr 7:124,400,896...124,434,699 		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 chr16:2,191,852...2,193,957
Ensembl chr16:2,191,852...2,193,957 		JBrowse link
G Homer2 homer scaffold protein 2 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 1:135,558,977...135,659,780
Ensembl chr 1:135,567,414...135,659,772 		JBrowse link
G Ipp intracisternal A particle-promoted polypeptide ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 5:129,962,528...130,001,237
Ensembl chr 5:129,962,643...130,001,242 		JBrowse link
G Kbtbd12 kelch repeat and BTB domain containing 12 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 4:121,014,636...121,088,701
Ensembl chr 4:121,016,257...121,088,443 		JBrowse link
G Kl Klotho ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:25741868 PMID:32870266 NCBI chr12:490,402...531,417
Ensembl chr12:490,399...530,080 		JBrowse link
G Klb klotho beta ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:32870266 NCBI chr14:42,899,050...42,950,788
Ensembl chr14:42,899,510...42,950,799 		JBrowse link
G Lhx3 LIM homeobox 3 ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:32870266 NCBI chr 3:9,026,432...9,035,122
Ensembl chr 3:9,027,425...9,034,480 		JBrowse link
G Lrg1 leucine-rich alpha-2-glycoprotein 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 9:947,516...949,773
Ensembl chr 9:947,516...949,813 		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 2:191,947,322...192,012,996
Ensembl chr 2:191,949,819...192,012,579 		JBrowse link
G Macrod2 mono-ADP ribosylhydrolase 2 ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:32870266 NCBI chr 3:127,720,066...129,737,511
Ensembl chr 3:127,720,181...129,734,492 		JBrowse link
G Map2k2 mitogen activated protein kinase kinase 2 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 7:8,590,729...8,610,279
Ensembl chr 7:8,580,905...8,610,243 		JBrowse link
G Mast2 microtubule associated serine/threonine kinase 2 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 5:129,776,293...129,915,502
Ensembl chr 5:129,775,676...129,915,606 		JBrowse link
G Matk megakaryocyte-associated tyrosine kinase ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 7:8,456,990...8,465,947
Ensembl chr 7:8,456,998...8,462,022 		JBrowse link
G Mgll monoglyceride lipase ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 4:121,192,186...121,294,187
Ensembl chr 4:121,192,195...121,294,179 		JBrowse link
G Mov10 Mov10 RNA helicase ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 2:192,292,041...192,315,142
Ensembl chr 2:192,293,470...192,315,083 		JBrowse link
G Mpnd MPN domain containing ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 9:839,473...846,446
Ensembl chr 9:840,143...846,439 		JBrowse link
G Mrpl54 mitochondrial ribosomal protein L54 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 7:8,452,801...8,455,321
Ensembl chr 7:8,452,716...8,455,321 		JBrowse link
G Msl3 MSL complex subunit 3 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr  X:25,638,029...25,655,698
Ensembl chr  X:25,637,804...25,655,697 		JBrowse link
G Mycn MYCN proto-oncogene, bHLH transcription factor ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 6:35,717,764...35,723,590
Ensembl chr 6:35,717,764...35,723,590 		JBrowse link
G Naip6 NLR family, apoptosis inhibitory protein 6 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 2:31,507,423...31,559,098
Ensembl chr 2:31,507,424...31,570,542 		JBrowse link
G Nbas NBAS subunit of NRZ tethering complex ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 6:36,048,357...36,353,206
Ensembl chr 6:36,048,191...36,352,984 		JBrowse link
G Ncam2 neural cell adhesion molecule 2 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr11:20,104,974...20,592,168
Ensembl chr11:20,104,925...20,591,984 		JBrowse link
G Nckap5 NCK-associated protein 5 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr13:37,369,948...38,283,257
Ensembl chr13:37,370,792...38,283,268 		JBrowse link
G Nkx2-6 NK2 homeobox 6 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr15:44,443,151...44,447,248
Ensembl chr15:44,443,101...44,447,247 		JBrowse link
G Nkx3-1 NK3 homeobox 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr15:44,473,851...44,476,443
Ensembl chr15:44,473,851...44,476,441 		JBrowse link
G Nmrk2 nicotinamide riboside kinase 2 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 7:8,514,855...8,517,916
Ensembl chr 7:8,514,927...8,517,922 		JBrowse link
G Nup35 nucleoporin 35 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 3:65,555,203...65,594,488
Ensembl chr 3:65,558,968...65,585,130 		JBrowse link
G Ocln occludin ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 2:31,657,217...31,707,466
Ensembl chr 2:31,657,220...31,764,150 		JBrowse link
G Or51b6b olfactory receptor family 51 subfamily B member 6B ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 1:158,072,748...158,073,701
Ensembl chr 1:158,072,748...158,073,701 		JBrowse link
G Or51i1 olfactory receptor family 51 subfamily I member 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 1:158,502,581...158,503,525
Ensembl chr 1:158,502,362...158,506,799 		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 1:158,513,673...158,514,611
Ensembl chr 1:158,513,673...158,514,611 		JBrowse link
G Otud4 OTU deubiquitinase 4 ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:32870266 NCBI chr19:28,236,713...28,279,815
Ensembl chr19:28,236,713...28,279,815 		JBrowse link
G Pcsk5 proprotein convertase subtilisin/kexin type 5 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 1:214,837,847...215,267,626
Ensembl chr 1:214,837,927...215,267,600 		JBrowse link
G Pias4 protein inhibitor of activated STAT, 4 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 7:8,546,312...8,559,838
Ensembl chr 7:8,546,312...8,559,808 		JBrowse link
G Plin4 perilipin 4 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 9:929,168...938,062
Ensembl chr 9:929,176...938,056 		JBrowse link
G Plin5 perilipin 5 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 9:939,745...946,188
Ensembl chr 9:939,747...946,120 		JBrowse link
G Pnpla4 patatin like phospholipase domain containing 4 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr  X:42,313,554...42,318,451
Ensembl chr  X:42,305,373...42,318,552 		JBrowse link
G Pnpla6 patatin-like phospholipase domain containing 6 ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:28492532 PMID:32870266 NCBI chr12:1,574,387...1,603,735
Ensembl chr12:1,560,363...1,603,734 		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 chr 7:19,039,179...19,142,450
Ensembl chr 7:19,038,552...19,142,598 		JBrowse link
G Por cytochrome p450 oxidoreductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:14758361 NCBI chr12:20,951,058...20,999,198
Ensembl chr12:20,951,058...20,999,245 		JBrowse link
G Ppm1j protein phosphatase, Mg2+/Mn2+ dependent, 1J ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 2:192,278,597...192,283,883
Ensembl chr 2:192,278,517...192,283,882 		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 2:54,240,298...54,275,978
Ensembl chr 2:54,240,137...54,275,978 		JBrowse link
G Prl prolactin ISO CTD Direct Evidence: marker/mechanism CTD PMID:6777091 NCBI chr17:37,859,999...37,870,062
Ensembl chr17:37,860,007...37,870,062 		JBrowse link
G Prok2 prokineticin 2 ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:32870266 NCBI chr 4:132,346,681...132,361,754
Ensembl chr 4:132,347,103...132,361,385 		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 3:119,624,738...119,639,442
Ensembl chr 3:119,627,601...119,635,718 		JBrowse link
G Prop1 PROP paired-like homeobox 1 ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:28492532 PMID:32870266 NCBI chr10:35,271,959...35,274,434
Ensembl chr10:35,271,973...35,274,434 		JBrowse link
G Psmb1 proteasome 20S subunit beta 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 1:56,442,432...56,463,544
Ensembl chr 1:56,420,618...56,463,560 		JBrowse link
G Ptchd1 patched domain containing 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr  X:39,681,910...39,733,416
Ensembl chr  X:39,681,910...39,733,519 		JBrowse link
G Pudp pseudouridine 5'-phosphatase ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr18:43,878,374...43,880,756
Ensembl chr18:43,878,080...43,880,791 		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 chr13:39,355,698...39,429,154
Ensembl chr13:39,352,247...39,429,169 		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 chr13:96,757,430...96,828,930
Ensembl chr13:96,757,460...96,829,478 		JBrowse link
G Ramac RNA guanine-7 methyltransferase activating subunit ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 1:135,708,529...135,714,417
Ensembl chr 1:135,708,535...135,722,151 		JBrowse link
G Rhoc ras homolog family member C ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 2:192,287,065...192,293,292
Ensembl chr 2:192,287,130...192,295,306 		JBrowse link
G Rreb1 ras responsive element binding protein 1 ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:21681106 NCBI chr17:26,876,687...27,002,554
Ensembl chr17:26,876,697...27,002,615 		JBrowse link
G Ryr3 ryanodine receptor 3 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 3:99,431,755...99,979,125
Ensembl chr 3:99,432,505...99,704,961 		JBrowse link
G Scarna15 small Cajal body-specific RNA 15 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 1:135,484,620...135,484,683
Ensembl chr 1:135,484,559...135,484,685
Ensembl chr 1:135,484,559...135,484,685 		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 1:195,020,750...195,031,807
Ensembl chr 1:195,020,750...195,031,807 		JBrowse link
G Sema3a semaphorin 3A ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:22927827 PMID:25741868 PMID:28492532 PMID:32870266 NCBI chr 4:21,282,398...21,754,834
Ensembl chr 4:21,287,982...21,494,432 		JBrowse link
G Sema3e semaphorin 3E ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:25741868 PMID:28492532 PMID:32870266 NCBI chr 4:20,297,534...20,555,287
Ensembl chr 4:20,299,718...20,555,229 		JBrowse link
G Sema6b semaphorin 6B ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 9:950,939...967,905
Ensembl chr 9:950,939...961,521 		JBrowse link
G Serf1 small EDRK-rich factor 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 2:31,475,902...31,482,030
Ensembl chr 2:31,475,703...31,482,032 		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 9:842,285...869,753
Ensembl chr 9:842,288...869,716 		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 1:136,124,500...136,255,669
Ensembl chr 1:136,124,499...136,255,584 		JBrowse link
G Shank3 SH3 and multiple ankyrin repeat domains 3 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 7:120,568,707...120,630,796
Ensembl chr 7:120,570,402...120,630,374 		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 9:799,652...809,769
Ensembl chr 9:795,674...808,371 		JBrowse link
G Sirt6 sirtuin 6 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 7:8,082,312...8,087,776
Ensembl chr 7:8,082,364...8,098,914 		JBrowse link
G Slc16a1 solute carrier family 16 member 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 2:192,123,755...192,144,617
Ensembl chr 2:192,124,289...192,144,611 		JBrowse link
G Slc5a5 solute carrier family 5 member 5 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr16:18,546,709...18,556,698
Ensembl chr16:18,546,709...18,556,697 		JBrowse link
G Slmap sarcolemma associated protein ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr16:1,667,205...1,785,200
Ensembl chr16:1,667,208...1,785,149 		JBrowse link
G Smn1 survival of motor neuron 1, telomeric ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 2:31,490,018...31,501,065
Ensembl chr 2:31,490,015...31,501,060 		JBrowse link
G Smyd3 SET and MYND domain containing 3 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr13:90,709,263...91,266,209
Ensembl chr13:90,709,270...91,266,253 		JBrowse link
G Sox2 SRY-box transcription factor 2 ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:28492532 PMID:32870266 NCBI chr 2:117,536,929...117,539,340
Ensembl chr 2:117,536,929...117,539,338 		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 chr18:30,436,513...30,451,426
Ensembl chr18:30,436,443...30,453,004 		JBrowse link
G Stap2 signal transducing adaptor family member 2 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 9:828,369...838,648
Ensembl chr 9:828,372...837,219 		JBrowse link
G Sts steroid sulfatase ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr  X:42,225,131...42,233,403
Ensembl chr  X:42,225,372...42,233,402 		JBrowse link
G Syce1 synaptonemal complex central element protein 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 1:195,852,171...195,863,174
Ensembl chr 1:195,852,172...195,863,174 		JBrowse link
G Tacr3 tachykinin receptor 3 ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:32870266 NCBI chr 2:223,266,536...223,363,791
Ensembl chr 2:223,266,536...223,363,791 		JBrowse link
G Tafa3 TAFA chemokine like family member 3 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 2:192,264,153...192,280,356
Ensembl chr 2:192,267,093...192,274,019 		JBrowse link
G Tbp TATA box binding protein ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 1:56,463,330...56,480,430
Ensembl chr 1:56,463,618...56,510,016 		JBrowse link
G Tjp3 tight junction protein 3 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 7:8,427,650...8,446,279
Ensembl chr 7:8,432,811...8,446,279 		JBrowse link
G Tm6sf1 transmembrane 6 superfamily member 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 1:135,799,844...135,828,515
Ensembl chr 1:135,786,381...135,828,443 		JBrowse link
G Tmem69 transmembrane protein 69 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 5:130,004,888...130,008,466
Ensembl chr 5:130,004,901...130,010,655 		JBrowse link
G Tp63 tumor protein p63 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr11:74,838,858...75,049,764
Ensembl chr11:74,838,859...75,049,398 		JBrowse link
G Tshz2 teashirt zinc finger homeobox 2 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 3:158,405,469...158,666,915
Ensembl chr 3:158,405,423...158,850,128 		JBrowse link
G Ubxn6 UBX domain protein 6 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 9:900,883...906,047
Ensembl chr 9:900,884...906,124 		JBrowse link
G Vldlr very low density lipoprotein receptor ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 1:224,813,539...224,850,400
Ensembl chr 1:224,814,377...224,845,920 		JBrowse link
G Wdr11 WD repeat domain 11 ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:32870266 NCBI chr 1:184,165,260...184,210,834
Ensembl chr 1:184,165,571...184,210,846 		JBrowse link
G Wdr37 WD repeat domain 37 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr17:61,637,258...61,703,677
Ensembl chr17:61,637,258...61,703,677 		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 1:135,526,363...135,557,091
Ensembl chr 1:135,526,386...135,554,759 		JBrowse link
G Xpo1 exportin 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr14:97,233,282...97,275,536
Ensembl chr14:97,233,270...97,275,498 		JBrowse link
G Yaf2 YY1 associated factor 2 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 7:124,444,152...124,499,688
Ensembl chr 7:124,444,152...124,499,928 		JBrowse link
G Yju2 YJU2 splicing factor ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 9:789,603...799,505
Ensembl chr 9:789,606...799,496 		JBrowse link
G Zbtb7a zinc finger and BTB domain containing 7a ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 7:8,561,015...8,578,243
Ensembl chr 7:8,563,779...8,576,539 		JBrowse link
G Zfp217 zinc finger protein 217 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 3:158,890,464...158,931,148
Ensembl chr 3:158,892,265...158,913,040 		JBrowse link
G Zfp870 zinc finger protein 870 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 7:11,990,146...12,003,813
Ensembl chr 7:11,990,148...12,003,813 		JBrowse link
G Zfr2 zinc finger RNA binding protein 2 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 7:8,466,768...8,485,593
Ensembl chr 7:8,466,753...8,485,538 		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 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 4:123,863,108...123,908,981
Ensembl chr 4:123,863,108...123,908,981 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18976
    disease of anatomical entity 18260
      reproductive system disease 3010
        female reproductive system disease 1999
          amenorrhea 164
            Calloso-Genital Dysplasia 0
            Nonpuerperal Galactorrhea 0
            Schinzel type phocomelia 1
Path 2
Term Annotations click to browse term
  disease 18976
    disease of anatomical entity 18260
      Urogenital Diseases 5234
        Female Urogenital Diseases and Pregnancy Complications 2455
          Female Urogenital Diseases 2002
            female reproductive system disease 1999
              amenorrhea 164
                Calloso-Genital Dysplasia 0
                Nonpuerperal Galactorrhea 0
                Schinzel type phocomelia 1
paths to the root