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HUMAN PHENOTYPE - ANNOTATIONS

The Human Phenotype Ontology (HPO) is downloaded weekly from http://compbio.charite.de/hudson/job/hpo/lastStableBuild/artifact/ontology/release/hp.obo. The file downloaded is considered the "last stable build" available for the ontology. For more about the HPO, view their website at http://www.human-phenotype-ontology.org/.
Term:Abnormal internal genitalia
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Accession:HP:0000812 term browser browse the term
Definition:An anomaly of the adnexa, uterus, and vagina (in female) or seminal tract and prostate (in male).
Synonyms:xref: UMLS:C4025824


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Abnormal internal genitalia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CC2D2A coiled-coil and C2 domain containing 2A IAGP HPO MIM:612284 NCBI chr 4:15,469,865...15,601,557
Ensembl chr 4:15,469,865...15,601,552 		JBrowse link
G DHX37 DEAH-box helicase 37 IAGP HPO MIM:273250 ORPHA:251510 NCBI chr12:124,946,826...124,989,131
Ensembl chr12:124,946,825...124,989,131 		JBrowse link
G GATA4 GATA binding protein 4 IAGP HPO ORPHA:251510 NCBI chr 8:11,676,935...11,760,002
Ensembl chr 8:11,676,959...11,760,002 		JBrowse link
G MAP3K1 mitogen-activated protein kinase kinase kinase 1 IAGP HPO ORPHA:251510 NCBI chr 5:56,815,549...56,896,152
Ensembl chr 5:56,815,549...56,896,152 		JBrowse link
G NR0B1 nuclear receptor subfamily 0 group B member 1 IAGP HPO ORPHA:251510 NCBI chr  X:30,304,206...30,309,390
Ensembl chr  X:30,304,206...30,309,390 		JBrowse link
G NR5A1 nuclear receptor subfamily 5 group A member 1 IAGP HPO ORPHA:251510 NCBI chr 9:124,481,236...124,507,399
Ensembl chr 9:124,481,236...124,507,420 		JBrowse link
G SOX9 SRY-box transcription factor 9 IAGP HPO ORPHA:251510 NCBI chr17:72,121,020...72,126,416
Ensembl chr17:72,121,020...72,126,416 		JBrowse link
G SRY sex determining region Y IAGP HPO ORPHA:1772 ORPHA:251510 NCBI chr  Y:2,786,855...2,787,682
Ensembl chr  Y:2,786,855...2,787,682 		JBrowse link
G VAMP7 vesicle associated membrane protein 7 IAGP HPO ORPHA:251510 NCBI chr  X:155,881,345...155,943,769
NCBI chr  Y:57,067,865...57,130,289
Ensembl chr  Y:57,067,865...57,130,289
Ensembl chr  X:57,067,865...57,130,289 		JBrowse link
G WT1 WT1 transcription factor IAGP HPO ORPHA:251510 NCBI chr11:32,387,775...32,435,539
Ensembl chr11:32,387,775...32,435,564 		JBrowse link
G WWOX WW domain containing oxidoreductase IAGP HPO ORPHA:251510 NCBI chr16:78,099,654...79,212,667
Ensembl chr16:78,099,400...79,212,667 		JBrowse link
G ZFPM2 zinc finger protein, FOG family member 2 IAGP HPO ORPHA:251510 NCBI chr 8:105,318,438...105,804,539
Ensembl chr 8:104,590,733...105,804,539 		JBrowse link
Abnormal endometrium morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G POLE DNA polymerase epsilon, catalytic subunit onset IAGP DNA:polymorphisms:multiple RGD PMID:25224212 RGD:151347645 NCBI chr12:132,623,762...132,687,342
Ensembl chr12:132,623,753...132,687,376 		JBrowse link
G PTEN phosphatase and tensin homolog IAGP DNA:loss of heterozygosity:cds:
DNA:mutations:multiple		 RGD PMID:9765621 PMID:9354433 RGD:12832746, RGD:12832753 NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930 		JBrowse link
G RNF43 ring finger protein 43 IAGP DNA:mutations:multiple: RGD PMID:25344691 RGD:151361224 NCBI chr17:58,352,500...58,417,534
Ensembl chr17:58,353,676...58,417,595 		JBrowse link
Abnormal epididymis morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DHH desert hedgehog signaling molecule IAGP HPO MIM:233420 NCBI chr12:49,086,656...49,094,801
Ensembl chr12:49,086,656...49,094,801 		JBrowse link
Abnormal fallopian tube morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BARD1 BRCA1 associated RING domain 1 IAGP HPO ORPHA:145 NCBI chr 2:214,725,646...214,809,683
Ensembl chr 2:214,725,646...214,809,683 		JBrowse link
G BRCA1 BRCA1 DNA repair associated IAGP HPO ORPHA:145 NCBI chr17:43,044,295...43,170,327
Ensembl chr17:43,044,295...43,170,245 		JBrowse link
G BRCA2 BRCA2 DNA repair associated IAGP HPO ORPHA:145 NCBI chr13:32,315,077...32,400,268
Ensembl chr13:32,315,086...32,400,268 		JBrowse link
G BRIP1 BRCA1 interacting DNA helicase 1 IAGP HPO ORPHA:145 NCBI chr17:61,679,139...61,863,528
Ensembl chr17:61,679,139...61,863,559 		JBrowse link
G CHEK2 checkpoint kinase 2 IAGP HPO ORPHA:145 NCBI chr22:28,687,743...28,741,834
Ensembl chr22:28,687,743...28,742,422 		JBrowse link
G COX7B cytochrome c oxidase subunit 7B IAGP HPO ORPHA:2556 NCBI chr  X:77,899,468...77,907,376
Ensembl chr  X:77,899,440...77,907,376 		JBrowse link
G FANCB FA complementation group B IAGP HPO ORPHA:3412 NCBI chr  X:14,689,524...14,873,069
Ensembl chr  X:14,690,388...14,873,255 		JBrowse link
G HCCS holocytochrome c synthase IAGP HPO ORPHA:2556 NCBI chr  X:11,111,332...11,123,086
Ensembl chr  X:11,111,301...11,123,086 		JBrowse link
G HYLS1 HYLS1 centriolar and ciliogenesis associated IAGP HPO ORPHA:2189 NCBI chr11:125,883,614...125,900,646
Ensembl chr11:125,883,614...125,900,646 		JBrowse link
G KIF7 kinesin family member 7 IAGP HPO ORPHA:2189 NCBI chr15:89,617,309...89,663,049
Ensembl chr15:89,608,789...89,663,086 		JBrowse link
G MRE11 MRE11 homolog, double strand break repair nuclease IAGP HPO ORPHA:145 NCBI chr11:94,415,570...94,512,412
Ensembl chr11:94,415,570...94,493,885 		JBrowse link
G NBN nibrin IAGP HPO ORPHA:145 NCBI chr 8:89,933,331...89,984,667
Ensembl chr 8:89,924,515...90,003,228 		JBrowse link
G NDUFB11 NADH:ubiquinone oxidoreductase subunit B11 IAGP HPO ORPHA:2556 NCBI chr  X:47,142,216...47,145,491
Ensembl chr  X:47,142,071...47,145,466 		JBrowse link
G PALB2 partner and localizer of BRCA2 IAGP HPO ORPHA:145 NCBI chr16:23,603,165...23,641,310
Ensembl chr16:23,603,160...23,641,321 		JBrowse link
G PLG plasminogen IAGP HPO ORPHA:722 NCBI chr 6:160,702,193...160,754,097
Ensembl chr 6:160,702,194...160,754,097 		JBrowse link
G PTEN phosphatase and tensin homolog IAGP HPO ORPHA:145 NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930 		JBrowse link
G RAD50 RAD50 double strand break repair protein IAGP HPO ORPHA:145 NCBI chr 5:132,556,977...132,646,349
Ensembl chr 5:132,556,019...132,646,349 		JBrowse link
G RAD51 RAD51 recombinase IAGP HPO ORPHA:145 NCBI chr15:40,694,733...40,732,340
Ensembl chr15:40,694,774...40,732,340 		JBrowse link
G RAD51C RAD51 paralog C IAGP HPO ORPHA:145 NCBI chr17:58,692,573...58,735,611
Ensembl chr17:58,692,573...58,735,611 		JBrowse link
G RAD51D RAD51 paralog D IAGP HPO ORPHA:145 NCBI chr17:35,092,221...35,119,860
Ensembl chr17:35,092,221...35,121,522 		JBrowse link
G TP53 tumor protein p53 IAGP HPO ORPHA:145 NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,546 		JBrowse link
G WT1 WT1 transcription factor IAGP HPO ORPHA:3097 NCBI chr11:32,387,775...32,435,539
Ensembl chr11:32,387,775...32,435,564 		JBrowse link
Abnormal male internal genitalia morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DHX37 DEAH-box helicase 37 IAGP HPO ORPHA:983 NCBI chr12:124,946,826...124,989,131
Ensembl chr12:124,946,825...124,989,131 		JBrowse link
G NR5A1 nuclear receptor subfamily 5 group A member 1 IAGP HPO ORPHA:2138 NCBI chr 9:124,481,236...124,507,399
Ensembl chr 9:124,481,236...124,507,420 		JBrowse link
G SOX9 SRY-box transcription factor 9 IAGP HPO ORPHA:2138 NCBI chr17:72,121,020...72,126,416
Ensembl chr17:72,121,020...72,126,416 		JBrowse link
G SRY sex determining region Y IAGP HPO ORPHA:2138 NCBI chr  Y:2,786,855...2,787,682
Ensembl chr  Y:2,786,855...2,787,682 		JBrowse link
Abnormal morphology of female internal genitalia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANOS1 anosmin 1 IAGP HPO ORPHA:478 NCBI chr  X:8,528,874...8,732,137
Ensembl chr  X:8,528,874...8,732,137 		JBrowse link
G AR androgen receptor IAGP HPO ORPHA:99429 NCBI chr  X:67,544,021...67,730,619
Ensembl chr  X:67,544,021...67,730,619 		JBrowse link
G CCDC141 coiled-coil domain containing 141 IAGP HPO ORPHA:478 NCBI chr 2:178,814,978...179,050,137
Ensembl chr 2:178,829,757...179,050,137 		JBrowse link
G CHD7 chromodomain helicase DNA binding protein 7 IAGP HPO ORPHA:138 ORPHA:478 NCBI chr 8:60,678,740...60,868,028
Ensembl chr 8:60,678,740...60,868,028 		JBrowse link
G CTC1 CST telomere replication complex component 1 IAGP HPO ORPHA:1775 NCBI chr17:8,224,815...8,248,056
Ensembl chr17:8,224,815...8,248,058 		JBrowse link
G CXCR4 C-X-C motif chemokine receptor 4 IAGP HPO MIM:193670 NCBI chr 2:136,114,349...136,118,149
Ensembl chr 2:136,114,349...136,119,177 		JBrowse link
G DCC DCC netrin 1 receptor IAGP HPO ORPHA:478 NCBI chr18:52,340,197...53,535,899
Ensembl chr18:52,340,197...53,535,899 		JBrowse link
G DHX37 DEAH-box helicase 37 IAGP HPO ORPHA:983 NCBI chr12:124,946,826...124,989,131
Ensembl chr12:124,946,825...124,989,131 		JBrowse link
G DKC1 dyskerin pseudouridine synthase 1 IAGP HPO ORPHA:1775 NCBI chr  X:154,762,864...154,777,689
Ensembl chr  X:154,762,742...154,777,689 		JBrowse link
G DLL3 delta like canonical Notch ligand 3 IAGP HPO ORPHA:2311 NCBI chr19:39,498,947...39,508,469
Ensembl chr19:39,498,895...39,508,481 		JBrowse link
G DUSP6 dual specificity phosphatase 6 IAGP HPO ORPHA:478 NCBI chr12:89,347,235...89,352,501
Ensembl chr12:89,347,235...89,352,501 		JBrowse link
G DYNC2LI1 dynein cytoplasmic 2 light intermediate chain 1 IAGP HPO ORPHA:289 NCBI chr 2:43,774,039...43,828,347
Ensembl chr 2:43,774,039...43,810,010 		JBrowse link
G EVC EvC ciliary complex subunit 1 IAGP HPO ORPHA:289 NCBI chr 4:5,711,201...5,829,057
Ensembl chr 4:5,711,201...5,814,305 		JBrowse link
G EVC2 EvC ciliary complex subunit 2 IAGP HPO ORPHA:289 NCBI chr 4:5,529,011...5,709,548
Ensembl chr 4:5,542,772...5,709,548 		JBrowse link
G FEZF1 FEZ family zinc finger 1 IAGP HPO ORPHA:478 NCBI chr 7:122,301,303...122,310,723
Ensembl chr 7:122,301,303...122,310,691 		JBrowse link
G FGF17 fibroblast growth factor 17 IAGP HPO ORPHA:478 NCBI chr 8:22,039,672...22,048,809
Ensembl chr 8:22,042,398...22,048,809 		JBrowse link
G FGF20 fibroblast growth factor 20 IAGP HPO ORPHA:1848 NCBI chr 8:16,992,181...17,002,345
Ensembl chr 8:16,992,181...17,002,345 		JBrowse link
G FGF8 fibroblast growth factor 8 IAGP HPO ORPHA:478 NCBI chr10:101,770,109...101,780,369
Ensembl chr10:101,770,109...101,780,371 		JBrowse link
G FGFR1 fibroblast growth factor receptor 1 IAGP HPO ORPHA:478 NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834 		JBrowse link
G FLRT3 fibronectin leucine rich transmembrane protein 3 IAGP HPO ORPHA:478 NCBI chr20:14,322,985...14,337,612
Ensembl chr20:14,322,985...14,337,614 		JBrowse link
G GFRA1 GDNF family receptor alpha 1 IAGP HPO ORPHA:1848 NCBI chr10:116,056,925...116,274,705
Ensembl chr10:116,056,925...116,276,803 		JBrowse link
G GLI1 GLI family zinc finger 1 IAGP HPO ORPHA:289 NCBI chr12:57,459,785...57,472,268
Ensembl chr12:57,459,785...57,472,268 		JBrowse link
G GREB1L GREB1 like retinoic acid receptor coactivator IAGP HPO ORPHA:1848 NCBI chr18:21,242,232...21,526,112
Ensembl chr18:21,242,232...21,526,112 		JBrowse link
G HES7 hes family bHLH transcription factor 7 IAGP HPO ORPHA:2311 NCBI chr17:8,120,592...8,126,634
Ensembl chr17:8,120,592...8,124,106 		JBrowse link
G HESX1 HESX homeobox 1 IAGP HPO ORPHA:478 NCBI chr 3:57,197,838...57,227,615
Ensembl chr 3:57,197,838...57,227,606 		JBrowse link
G HOXD13 homeobox D13 IAGP HPO ORPHA:887 NCBI chr 2:176,087,487...176,095,944
Ensembl chr 2:176,092,721...176,095,944 		JBrowse link
G HS6ST1 heparan sulfate 6-O-sulfotransferase 1 IAGP HPO ORPHA:478 NCBI chr 2:128,265,480...128,318,868
Ensembl chr 2:128,236,716...128,318,868 		JBrowse link
G IL17RD interleukin 17 receptor D IAGP HPO ORPHA:478 NCBI chr 3:57,089,982...57,170,317
Ensembl chr 3:57,089,982...57,170,306 		JBrowse link
G ITGA8 integrin subunit alpha 8 IAGP HPO ORPHA:1848 NCBI chr10:15,513,954...15,719,922
Ensembl chr10:15,513,954...15,719,922 		JBrowse link
G LFNG LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase IAGP HPO ORPHA:2311 NCBI chr 7:2,512,529...2,529,177
Ensembl chr 7:2,512,529...2,529,177 		JBrowse link
G MAPK8 mitogen-activated protein kinase 8 IAGP associated with connective tissue disease;DNA:splice-site mutation:splice junction:c.311+1G>A RGD PMID:31784499 RGD:150340677 NCBI chr10:48,306,677...48,439,360
Ensembl chr10:48,306,639...48,439,360 		JBrowse link
G MESP2 mesoderm posterior bHLH transcription factor 2 IAGP HPO ORPHA:2311 NCBI chr15:89,776,332...89,778,754
Ensembl chr15:89,760,591...89,778,754 		JBrowse link
G NDNF neuron derived neurotrophic factor IAGP HPO ORPHA:478 NCBI chr 4:121,035,613...121,072,535
Ensembl chr 4:121,035,613...121,073,021 		JBrowse link
G NHP2 NHP2 ribonucleoprotein IAGP HPO ORPHA:1775 NCBI chr 5:178,149,463...178,153,885
Ensembl chr 5:178,149,463...178,153,894 		JBrowse link
G NOP10 NOP10 ribonucleoprotein IAGP HPO ORPHA:1775 NCBI chr15:34,341,719...34,343,136
Ensembl chr15:34,339,159...34,343,180 		JBrowse link
G NPM1 nucleophosmin 1 IAGP HPO ORPHA:1775 NCBI chr 5:171,387,116...171,410,900
Ensembl chr 5:171,387,116...171,411,810 		JBrowse link
G NR5A1 nuclear receptor subfamily 5 group A member 1 IAGP HPO ORPHA:2138 NCBI chr 9:124,481,236...124,507,399
Ensembl chr 9:124,481,236...124,507,420 		JBrowse link
G PARN poly(A)-specific ribonuclease IAGP HPO ORPHA:1775 NCBI chr16:14,435,701...14,630,260
Ensembl chr16:14,435,700...14,632,728 		JBrowse link
G PDE11A phosphodiesterase 11A IAGP HPO ORPHA:1359 NCBI chr 2:177,623,244...178,108,339
Ensembl chr 2:177,623,244...178,108,339 		JBrowse link
G PRKACA protein kinase cAMP-activated catalytic subunit alpha IAGP HPO ORPHA:289 NCBI chr19:14,091,688...14,117,762
Ensembl chr19:14,091,688...14,118,084 		JBrowse link
G PRKACB protein kinase cAMP-activated catalytic subunit beta IAGP HPO ORPHA:289 NCBI chr 1:84,078,079...84,238,498
Ensembl chr 1:84,078,062...84,238,498 		JBrowse link
G PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha IAGP HPO ORPHA:1359 NCBI chr17:68,413,623...68,551,316
Ensembl chr17:68,511,780...68,551,319 		JBrowse link
G PROK2 prokineticin 2 IAGP HPO ORPHA:478 NCBI chr 3:71,771,655...71,785,148
Ensembl chr 3:71,771,655...71,785,206 		JBrowse link
G PROKR2 prokineticin receptor 2 IAGP HPO ORPHA:478 NCBI chr20:5,299,218...5,316,954
Ensembl chr20:5,299,218...5,316,954 		JBrowse link
G RET ret proto-oncogene IAGP HPO ORPHA:1848 NCBI chr10:43,077,069...43,130,351
Ensembl chr10:43,077,064...43,130,351 		JBrowse link
G RIPPLY2 ripply transcriptional repressor 2 IAGP HPO ORPHA:2311 NCBI chr 6:83,853,229...83,857,515
Ensembl chr 6:83,853,360...83,857,515 		JBrowse link
G RTEL1 regulator of telomere elongation helicase 1 IAGP HPO ORPHA:1775 NCBI chr20:63,657,810...63,696,253
Ensembl chr20:63,657,810...63,696,253 		JBrowse link
G SEMA3A semaphorin 3A IAGP HPO ORPHA:478 NCBI chr 7:83,955,777...84,492,725
Ensembl chr 7:83,955,777...84,492,724 		JBrowse link
G SEMA3E semaphorin 3E IAGP HPO ORPHA:138 NCBI chr 7:83,363,238...83,649,139
Ensembl chr 7:83,363,238...83,649,139 		JBrowse link
G SOX10 SRY-box transcription factor 10 IAGP HPO ORPHA:478 NCBI chr22:37,972,312...37,984,555
Ensembl chr22:37,970,686...37,987,422 		JBrowse link
G SOX9 SRY-box transcription factor 9 IAGP HPO ORPHA:2138 NCBI chr17:72,121,020...72,126,416
Ensembl chr17:72,121,020...72,126,416 		JBrowse link
G SPRY4 sprouty RTK signaling antagonist 4 IAGP HPO ORPHA:478 NCBI chr 5:142,310,430...142,325,021
Ensembl chr 5:142,310,427...142,326,455 		JBrowse link
G SRY sex determining region Y IAGP HPO ORPHA:2138 NCBI chr  Y:2,786,855...2,787,682
Ensembl chr  Y:2,786,855...2,787,682 		JBrowse link
G TACR3 tachykinin receptor 3 IAGP HPO ORPHA:478 NCBI chr 4:103,586,031...103,719,985
Ensembl chr 4:103,586,031...103,719,985 		JBrowse link
G TBX6 T-box transcription factor 6 IAGP HPO ORPHA:1797 NCBI chr16:30,085,793...30,091,924
Ensembl chr16:30,085,793...30,091,924 		JBrowse link
G TERC telomerase RNA component IAGP HPO ORPHA:1775 NCBI chr 3:169,764,610...169,765,060
Ensembl chr 3:169,764,610...169,765,047
Ensembl chr 3:169,764,610...169,765,047 		JBrowse link
G TERT telomerase reverse transcriptase IAGP HPO ORPHA:1775 NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068 		JBrowse link
G TINF2 TERF1 interacting nuclear factor 2 IAGP HPO ORPHA:1775 NCBI chr14:24,239,640...24,242,674
Ensembl chr14:24,238,286...24,242,663 		JBrowse link
G TSC1 TSC complex subunit 1 IAGP HPO ORPHA:538 NCBI chr 9:132,891,349...132,945,378
Ensembl chr 9:132,891,348...132,946,874 		JBrowse link
G TSC2 TSC complex subunit 2 IAGP HPO ORPHA:538 NCBI chr16:2,047,985...2,089,491
Ensembl chr16:2,047,967...2,089,491 		JBrowse link
G TYMS thymidylate synthetase IAGP HPO ORPHA:1775 NCBI chr18:657,653...673,578
Ensembl chr18:657,653...673,578 		JBrowse link
G USB1 U6 snRNA biogenesis phosphodiesterase 1 IAGP HPO ORPHA:1775 NCBI chr16:57,999,603...58,021,618
Ensembl chr16:57,999,546...58,021,618 		JBrowse link
G WDR11 WD repeat domain 11 IAGP HPO ORPHA:478 NCBI chr10:120,851,362...120,909,524
Ensembl chr10:120,851,305...120,909,524 		JBrowse link
G WNT9B Wnt family member 9B IAGP HPO ORPHA:1848 NCBI chr17:46,833,189...46,886,738
Ensembl chr17:46,833,201...46,886,730 		JBrowse link
G WRAP53 WD repeat containing antisense to TP53 IAGP HPO ORPHA:1775 NCBI chr17:7,686,071...7,703,502
Ensembl chr17:7,686,071...7,703,502 		JBrowse link
Abnormal ovarian morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MMP1 matrix metallopeptidase 1 IAGP DNA:insertion:promoter:g.-1607insG RGD PMID:10485461 RGD:7207020 NCBI chr11:102,789,919...102,798,160
Ensembl chr11:102,789,401...102,798,160 		JBrowse link
G POR cytochrome p450 oxidoreductase IAGP HPO ORPHA:95699 NCBI chr 7:75,915,155...75,986,855
Ensembl chr 7:75,899,200...75,986,855 		JBrowse link
Abnormal prostate morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYC MYC proto-oncogene, bHLH transcription factor susceptibility IAGP DNA:snp:intron:IVS1-355T>A (rs3891248) RGD PMID:18483343 RGD:7207432 NCBI chr 8:127,735,434...127,742,951
Ensembl chr 8:127,735,434...127,742,951 		JBrowse link
G NAB2 NGFI-A binding protein 2 IAGP HPO ORPHA:2126 NCBI chr12:57,089,114...57,095,476
Ensembl chr12:57,089,043...57,095,476 		JBrowse link
G PTEN phosphatase and tensin homolog IAGP DNA:deletion RGD PMID:17700571 RGD:2292502 NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930 		JBrowse link
G STAT6 signal transducer and activator of transcription 6 IAGP HPO ORPHA:2126 NCBI chr12:57,095,408...57,111,362
Ensembl chr12:57,095,408...57,132,139 		JBrowse link
Abnormal uterine cervix morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AR androgen receptor IAGP HPO ORPHA:99429 NCBI chr  X:67,544,021...67,730,619
Ensembl chr  X:67,544,021...67,730,619 		JBrowse link
G MMP1 matrix metallopeptidase 1 disease_progression IAGP DNA:insertion:promoter:g.-1607insG RGD PMID:14550952 RGD:7207024 NCBI chr11:102,789,919...102,798,160
Ensembl chr11:102,789,401...102,798,160 		JBrowse link
G PTEN phosphatase and tensin homolog IAGP DNA:amplification RGD PMID:17727244 RGD:2292501 NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930 		JBrowse link
Abnormal uterus morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BRCA2 BRCA2 DNA repair associated IAGP HPO ORPHA:654 NCBI chr13:32,315,077...32,400,268
Ensembl chr13:32,315,086...32,400,268 		JBrowse link
G DIS3L2 DIS3 like 3'-5' exoribonuclease 2 IAGP HPO ORPHA:654 NCBI chr 2:231,961,713...232,344,350
Ensembl chr 2:231,961,245...232,344,350 		JBrowse link
G GPC3 glypican 3 IAGP HPO ORPHA:654 NCBI chr  X:133,535,745...133,985,594
Ensembl chr  X:133,535,745...133,987,100 		JBrowse link
G H19 H19 imprinted maternally expressed transcript IAGP HPO ORPHA:654 NCBI chr11:1,995,176...2,001,266
Ensembl chr11:1,995,165...2,004,552 		JBrowse link
G POU6F2 POU class 6 homeobox 2 IAGP HPO ORPHA:654 NCBI chr 7:38,977,909...39,468,601
Ensembl chr 7:38,977,909...39,493,095 		JBrowse link
G REST RE1 silencing transcription factor IAGP HPO ORPHA:654 NCBI chr 4:56,907,900...56,935,844
Ensembl chr 4:56,907,876...56,966,808 		JBrowse link
G TRIM28 tripartite motif containing 28 IAGP HPO ORPHA:654 NCBI chr19:58,544,064...58,550,715
Ensembl chr19:58,544,064...58,550,722 		JBrowse link
G TRIP13 thyroid hormone receptor interactor 13 IAGP HPO ORPHA:654 NCBI chr 5:892,884...919,348
Ensembl chr 5:892,884...919,357 		JBrowse link
G WT1 WT1 transcription factor IAGP HPO ORPHA:654 NCBI chr11:32,387,775...32,435,539
Ensembl chr11:32,387,775...32,435,564 		JBrowse link
Abnormal vagina morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLEC7A C-type lectin domain containing 7A IAGP HPO ORPHA:1334 NCBI chr12:10,116,777...10,130,304
Ensembl chr12:10,116,777...10,130,258 		JBrowse link
G CYP11A1 cytochrome P450 family 11 subfamily A member 1 IAGP HPO ORPHA:168558 ORPHA:289548 NCBI chr15:74,337,762...74,367,646
Ensembl chr15:74,337,759...74,367,646 		JBrowse link
G DACT1 dishevelled binding antagonist of beta catenin 1 IAGP HPO ORPHA:857 NCBI chr14:58,634,061...58,648,321
Ensembl chr14:58,633,967...58,648,321 		JBrowse link
G DHH desert hedgehog signaling molecule IAGP HPO ORPHA:168563 NCBI chr12:49,086,656...49,094,801
Ensembl chr12:49,086,656...49,094,801 		JBrowse link
G DHX37 DEAH-box helicase 37 IAGP HPO ORPHA:251510 NCBI chr12:124,946,826...124,989,131
Ensembl chr12:124,946,825...124,989,131 		JBrowse link
G FRAS1 Fraser extracellular matrix complex subunit 1 IAGP HPO ORPHA:2052 NCBI chr 4:78,057,323...78,544,269
Ensembl chr 4:78,057,323...78,544,269 		JBrowse link
G FREM2 FRAS1 related extracellular matrix 2 IAGP HPO ORPHA:2052 NCBI chr13:38,687,077...38,887,131
Ensembl chr13:38,687,077...38,887,131 		JBrowse link
G GATA4 GATA binding protein 4 IAGP HPO ORPHA:251510 NCBI chr 8:11,676,935...11,760,002
Ensembl chr 8:11,676,959...11,760,002 		JBrowse link
G GRIP1 glutamate receptor interacting protein 1 IAGP HPO ORPHA:2052 NCBI chr12:66,347,431...67,069,338
Ensembl chr12:66,347,431...67,069,162 		JBrowse link
G HYLS1 HYLS1 centriolar and ciliogenesis associated IAGP HPO MIM:236680 NCBI chr11:125,883,614...125,900,646
Ensembl chr11:125,883,614...125,900,646 		JBrowse link
G IL17F interleukin 17F IAGP HPO ORPHA:1334 NCBI chr 6:52,236,681...52,245,689
Ensembl chr 6:52,236,681...52,245,689 		JBrowse link
G IL17RA interleukin 17 receptor A IAGP HPO ORPHA:1334 NCBI chr22:17,085,000...17,115,693
Ensembl chr22:17,084,954...17,115,693 		JBrowse link
G IL17RC interleukin 17 receptor C IAGP HPO ORPHA:1334 NCBI chr 3:9,917,098...9,933,621
Ensembl chr 3:9,917,074...9,933,630 		JBrowse link
G MAP3K1 mitogen-activated protein kinase kinase kinase 1 IAGP HPO ORPHA:251510 NCBI chr 5:56,815,549...56,896,152
Ensembl chr 5:56,815,549...56,896,152 		JBrowse link
G NR0B1 nuclear receptor subfamily 0 group B member 1 IAGP HPO ORPHA:251510 NCBI chr  X:30,304,206...30,309,390
Ensembl chr  X:30,304,206...30,309,390 		JBrowse link
G NR5A1 nuclear receptor subfamily 5 group A member 1 IAGP HPO ORPHA:251510 NCBI chr 9:124,481,236...124,507,399
Ensembl chr 9:124,481,236...124,507,420 		JBrowse link
G PAX6 paired box 6 IAGP HPO MIM:194072 NCBI chr11:31,789,026...31,817,961
Ensembl chr11:31,784,779...31,817,961 		JBrowse link
G SALL1 spalt like transcription factor 1 IAGP HPO ORPHA:857 NCBI chr16:51,135,982...51,152,334
Ensembl chr16:51,135,982...51,152,334 		JBrowse link
G SOX9 SRY-box transcription factor 9 IAGP HPO ORPHA:251510 NCBI chr17:72,121,020...72,126,416
Ensembl chr17:72,121,020...72,126,416 		JBrowse link
G SRY sex determining region Y IAGP HPO ORPHA:251510 NCBI chr  Y:2,786,855...2,787,682
Ensembl chr  Y:2,786,855...2,787,682 		JBrowse link
G TRAF3IP2 TRAF3 interacting protein 2 IAGP HPO ORPHA:1334 NCBI chr 6:111,555,381...111,605,878
Ensembl chr 6:111,555,381...111,606,906 		JBrowse link
G UBR1 ubiquitin protein ligase E3 component n-recognin 1 IAGP HPO ORPHA:2315 NCBI chr15:42,942,897...43,106,038
Ensembl chr15:42,942,897...43,106,113 		JBrowse link
G VAMP7 vesicle associated membrane protein 7 IAGP HPO ORPHA:251510 NCBI chr  X:155,881,345...155,943,769
NCBI chr  Y:57,067,865...57,130,289
Ensembl chr  Y:57,067,865...57,130,289
Ensembl chr  X:57,067,865...57,130,289 		JBrowse link
G WNT4 Wnt family member 4 IAGP HPO ORPHA:247768 NCBI chr 1:22,117,313...22,143,097
Ensembl chr 1:22,117,313...22,143,969 		JBrowse link
G WT1 WT1 transcription factor IAGP HPO MIM:194072 ORPHA:251510 ORPHA:3097 NCBI chr11:32,387,775...32,435,539
Ensembl chr11:32,387,775...32,435,564 		JBrowse link
G WWOX WW domain containing oxidoreductase IAGP HPO ORPHA:251510 NCBI chr16:78,099,654...79,212,667
Ensembl chr16:78,099,400...79,212,667 		JBrowse link
G ZFPM2 zinc finger protein, FOG family member 2 IAGP HPO ORPHA:251510 NCBI chr 8:105,318,438...105,804,539
Ensembl chr 8:104,590,733...105,804,539 		JBrowse link
Abnormality of the ovary term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARL6 ARF like GTPase 6 IAGP HPO MIM:209900 NCBI chr 3:97,764,521...97,801,242
Ensembl chr 3:97,764,521...97,801,229 		JBrowse link
G BBS1 Bardet-Biedl syndrome 1 IAGP HPO MIM:209900 NCBI chr11:66,510,635...66,533,598
Ensembl chr11:66,510,606...66,533,613 		JBrowse link
G CCDC28B coiled-coil domain containing 28B IAGP HPO MIM:209900 NCBI chr 1:32,196,011...32,205,387
Ensembl chr 1:32,200,595...32,205,453 		JBrowse link
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit disease_progression IAGP DNA:SNP: :rs1799793 RGD PMID:25881102 RGD:11252176 NCBI chr19:45,349,837...45,370,573
Ensembl chr19:45,349,837...45,370,918 		JBrowse link
G MSH6 mutS homolog 6 IAGP ClinVar Annotator: match by term: Abnormality of the ovary ClinVar PMID:17344846 PMID:17453009 PMID:18269114 PMID:18301448 PMID:21153778 More... NCBI chr 2:47,783,145...47,810,101
Ensembl chr 2:47,695,530...47,810,063 		JBrowse link
G MYC MYC proto-oncogene, bHLH transcription factor IAGP HPO ORPHA:543 NCBI chr 8:127,735,434...127,742,951
Ensembl chr 8:127,735,434...127,742,951 		JBrowse link
G PLG plasminogen IAGP HPO ORPHA:722 NCBI chr 6:160,702,193...160,754,097
Ensembl chr 6:160,702,194...160,754,097 		JBrowse link
G STAG3 STAG3 cohesin complex component IAGP ClinVar Annotator: match by term: Ovarian disease ClinVar PMID:25741868 NCBI chr 7:100,177,724...100,219,334
Ensembl chr 7:100,177,563...100,214,387 		JBrowse link
G WNT4 Wnt family member 4 IAGP HPO ORPHA:247768 NCBI chr 1:22,117,313...22,143,097
Ensembl chr 1:22,117,313...22,143,969 		JBrowse link
Abnormality of the uterus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKT1 AKT serine/threonine kinase 1 IAGP HPO ORPHA:201 NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,759 		JBrowse link
G ARVCF ARVCF delta catenin family member IAGP HPO ORPHA:567 NCBI chr22:19,965,134...20,016,823
Ensembl chr22:19,969,896...20,016,823 		JBrowse link
G BRCA1 BRCA1 DNA repair associated IAGP HPO ORPHA:84 NCBI chr17:43,044,295...43,170,327
Ensembl chr17:43,044,295...43,170,245 		JBrowse link
G BRCA2 BRCA2 DNA repair associated IAGP HPO ORPHA:84 NCBI chr13:32,315,077...32,400,268
Ensembl chr13:32,315,086...32,400,268 		JBrowse link
G BRD4 bromodomain containing 4 IAGP HPO ORPHA:199 NCBI chr19:15,235,519...15,332,539
Ensembl chr19:15,235,519...15,332,545 		JBrowse link
G BRIP1 BRCA1 interacting DNA helicase 1 IAGP HPO ORPHA:84 NCBI chr17:61,679,139...61,863,528
Ensembl chr17:61,679,139...61,863,559 		JBrowse link
G CHRM3 cholinergic receptor muscarinic 3 IAGP HPO ORPHA:2970 NCBI chr 1:239,386,568...239,915,450
Ensembl chr 1:239,386,565...239,915,452 		JBrowse link
G COMT catechol-O-methyltransferase IAGP HPO ORPHA:567 NCBI chr22:19,941,772...19,969,975
Ensembl chr22:19,941,371...19,969,975 		JBrowse link
G DACT1 dishevelled binding antagonist of beta catenin 1 IAGP HPO ORPHA:857 NCBI chr14:58,634,061...58,648,321
Ensembl chr14:58,633,967...58,648,321 		JBrowse link
G ERCC4 ERCC excision repair 4, endonuclease catalytic subunit IAGP HPO ORPHA:84 NCBI chr16:13,920,154...13,952,348
Ensembl chr16:13,920,138...13,952,348 		JBrowse link
G FANCA FA complementation group A IAGP HPO ORPHA:84 NCBI chr16:89,737,549...89,816,647
Ensembl chr16:89,726,683...89,816,977 		JBrowse link
G FANCB FA complementation group B IAGP HPO ORPHA:84 NCBI chr  X:14,689,524...14,873,069
Ensembl chr  X:14,690,388...14,873,255 		JBrowse link
G FANCC FA complementation group C IAGP HPO ORPHA:84 NCBI chr 9:95,099,054...95,317,709
Ensembl chr 9:95,099,054...95,426,796 		JBrowse link
G FANCD2 FA complementation group D2 IAGP HPO ORPHA:84 NCBI chr 3:10,026,437...10,101,932
Ensembl chr 3:10,026,370...10,101,932 		JBrowse link
G FANCE FA complementation group E IAGP HPO ORPHA:84 NCBI chr 6:35,452,338...35,467,102
Ensembl chr 6:35,452,338...35,467,104 		JBrowse link
G FANCF FA complementation group F IAGP HPO ORPHA:84 NCBI chr11:22,622,533...22,625,823
Ensembl chr11:22,622,533...22,625,823 		JBrowse link
G FANCG FA complementation group G IAGP HPO ORPHA:84 NCBI chr 9:35,073,839...35,079,942
Ensembl chr 9:35,073,835...35,080,004 		JBrowse link
G FANCI FA complementation group I IAGP HPO ORPHA:84 NCBI chr15:89,243,979...89,317,259
Ensembl chr15:89,243,945...89,317,261 		JBrowse link
G FANCL FA complementation group L IAGP HPO ORPHA:84 NCBI chr 2:58,159,243...58,241,380
Ensembl chr 2:58,159,243...58,241,410 		JBrowse link
G FANCM FA complementation group M IAGP HPO ORPHA:84 NCBI chr14:45,135,930...45,200,890
Ensembl chr14:45,135,930...45,200,890 		JBrowse link
G GP1BB glycoprotein Ib platelet subunit beta IAGP HPO ORPHA:567 NCBI chr22:19,723,539...19,724,771
Ensembl chr22:19,723,539...19,724,771 		JBrowse link
G GREB1L GREB1 like retinoic acid receptor coactivator IAGP HPO MIM:617805 NCBI chr18:21,242,232...21,526,112
Ensembl chr18:21,242,232...21,526,112 		JBrowse link
G HDAC8 histone deacetylase 8 IAGP HPO ORPHA:199 NCBI chr  X:72,329,516...72,572,843
Ensembl chr  X:72,329,516...72,573,101 		JBrowse link
G HIRA histone cell cycle regulator IAGP HPO ORPHA:567 NCBI chr22:19,330,698...19,431,733
Ensembl chr22:19,330,698...19,447,450 		JBrowse link
G HOXA13 homeobox A13 IAGP HPO ORPHA:2438 NCBI chr 7:27,194,364...27,200,091
Ensembl chr 7:27,193,503...27,200,091 		JBrowse link
G JMJD1C jumonji domain containing 1C IAGP HPO ORPHA:567 NCBI chr10:63,167,225...63,521,890
Ensembl chr10:63,167,221...63,521,850 		JBrowse link
G KLLN killin, p53 regulated DNA replication inhibitor IAGP HPO ORPHA:201 NCBI chr10:87,859,158...87,863,533
Ensembl chr10:87,859,158...87,863,533 		JBrowse link
G LRP2 LDL receptor related protein 2 IAGP HPO ORPHA:2143 NCBI chr 2:169,127,109...169,362,534
Ensembl chr 2:169,127,109...169,362,534 		JBrowse link
G MAD2L2 mitotic arrest deficient 2 like 2 IAGP HPO ORPHA:84 NCBI chr 1:11,674,480...11,691,830
Ensembl chr 1:11,657,230...11,691,811 		JBrowse link
G MKS1 MKS transition zone complex subunit 1 IAGP HPO MIM:249000 NCBI chr17:58,205,441...58,219,255
Ensembl chr17:58,205,441...58,219,605 		JBrowse link
G NIPBL NIPBL cohesin loading factor IAGP HPO ORPHA:199 NCBI chr 5:36,876,769...37,066,413
Ensembl chr 5:36,876,769...37,066,413 		JBrowse link
G NR5A1 nuclear receptor subfamily 5 group A member 1 IAGP HPO ORPHA:2138 NCBI chr 9:124,481,236...124,507,399
Ensembl chr 9:124,481,236...124,507,420 		JBrowse link
G PALB2 partner and localizer of BRCA2 IAGP HPO ORPHA:84 NCBI chr16:23,603,165...23,641,310
Ensembl chr16:23,603,160...23,641,321 		JBrowse link
G PAX6 paired box 6 IAGP HPO MIM:194072 NCBI chr11:31,789,026...31,817,961
Ensembl chr11:31,784,779...31,817,961 		JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha IAGP HPO ORPHA:201 NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093 		JBrowse link
G PTEN phosphatase and tensin homolog IAGP HPO ORPHA:201 NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930 		JBrowse link
G RAD21 RAD21 cohesin complex component IAGP HPO ORPHA:199 NCBI chr 8:116,845,934...116,874,776
Ensembl chr 8:116,845,934...116,874,776 		JBrowse link
G RAD51 RAD51 recombinase IAGP HPO ORPHA:84 NCBI chr15:40,694,733...40,732,340
Ensembl chr15:40,694,774...40,732,340 		JBrowse link
G RAD51C RAD51 paralog C IAGP HPO ORPHA:84 NCBI chr17:58,692,573...58,735,611
Ensembl chr17:58,692,573...58,735,611 		JBrowse link
G RARB retinoic acid receptor beta IAGP HPO ORPHA:2470 NCBI chr 3:24,829,321...25,597,932
Ensembl chr 3:24,687,887...25,597,932 		JBrowse link
G RFWD3 ring finger and WD repeat domain 3 IAGP HPO ORPHA:84 NCBI chr16:74,621,399...74,666,877
Ensembl chr16:74,621,399...74,666,877 		JBrowse link
G RREB1 ras responsive element binding protein 1 IAGP HPO ORPHA:567 NCBI chr 6:7,107,743...7,251,980
Ensembl chr 6:7,107,597...7,251,980 		JBrowse link
G SALL1 spalt like transcription factor 1 IAGP HPO ORPHA:857 NCBI chr16:51,135,982...51,152,334
Ensembl chr16:51,135,982...51,152,334 		JBrowse link
G SDHB succinate dehydrogenase complex iron sulfur subunit B IAGP HPO ORPHA:201 NCBI chr 1:17,018,722...17,054,032
Ensembl chr 1:17,018,664...17,054,151 		JBrowse link
G SDHC succinate dehydrogenase complex subunit C IAGP HPO ORPHA:201 NCBI chr 1:161,314,381...161,363,206
Ensembl chr 1:161,314,381...161,363,206 		JBrowse link
G SDHD succinate dehydrogenase complex subunit D IAGP HPO ORPHA:201 NCBI chr11:112,086,873...112,095,794
Ensembl chr11:112,086,824...112,120,016 		JBrowse link
G SEC23B SEC23 homolog B, COPII coat complex component IAGP HPO ORPHA:201 NCBI chr20:18,507,548...18,561,415
Ensembl chr20:18,507,520...18,561,415 		JBrowse link
G SEC24C SEC24 homolog C, COPII coat complex component IAGP HPO ORPHA:567 NCBI chr10:73,744,372...73,772,161
Ensembl chr10:73,744,372...73,772,161 		JBrowse link
G SF3B4 splicing factor 3b subunit 4 IAGP HPO ORPHA:1788 NCBI chr 1:149,923,317...149,927,803
Ensembl chr 1:149,923,317...149,927,803 		JBrowse link
G SLX4 SLX4 structure-specific endonuclease subunit IAGP HPO ORPHA:84 NCBI chr16:3,581,181...3,611,606
Ensembl chr16:3,581,181...3,611,606 		JBrowse link
G SMC1A structural maintenance of chromosomes 1A IAGP HPO ORPHA:199 NCBI chr  X:53,374,149...53,422,728
Ensembl chr  X:53,374,149...53,422,728 		JBrowse link
G SMC3 structural maintenance of chromosomes 3 IAGP HPO ORPHA:199 NCBI chr10:110,567,695...110,606,048
Ensembl chr10:110,567,684...110,606,048 		JBrowse link
G SOX9 SRY-box transcription factor 9 IAGP HPO ORPHA:2138 NCBI chr17:72,121,020...72,126,416
Ensembl chr17:72,121,020...72,126,416 		JBrowse link
G SRY sex determining region Y IAGP HPO ORPHA:2138 NCBI chr  Y:2,786,855...2,787,682
Ensembl chr  Y:2,786,855...2,787,682 		JBrowse link
G STRA6 signaling receptor and transporter of retinol STRA6 IAGP HPO ORPHA:2470 NCBI chr15:74,179,466...74,212,259
Ensembl chr15:74,179,466...74,212,267 		JBrowse link
G TAF6 TATA-box binding protein associated factor 6 IAGP HPO ORPHA:199 NCBI chr 7:100,107,070...100,127,171
Ensembl chr 7:100,106,876...100,119,841 		JBrowse link
G TBX1 T-box transcription factor 1 IAGP HPO ORPHA:567 NCBI chr22:19,756,703...19,783,593
Ensembl chr22:19,756,703...19,783,593 		JBrowse link
G TBX3 T-box transcription factor 3 IAGP HPO ORPHA:3138 NCBI chr12:114,670,255...114,684,175
Ensembl chr12:114,670,255...114,684,175 		JBrowse link
G UBE2T ubiquitin conjugating enzyme E2 T IAGP HPO ORPHA:84 NCBI chr 1:202,331,657...202,341,936
Ensembl chr 1:202,331,544...202,341,984 		JBrowse link
G UFD1 ubiquitin recognition factor in ER associated degradation 1 IAGP HPO ORPHA:567 NCBI chr22:19,449,911...19,479,193
Ensembl chr22:19,449,911...19,479,202 		JBrowse link
G USF3 upstream transcription factor family member 3 IAGP HPO ORPHA:201 NCBI chr 3:113,648,385...113,696,642
Ensembl chr 3:113,648,385...113,696,646 		JBrowse link
G WNT7B Wnt family member 7B IAGP HPO ORPHA:2470 NCBI chr22:45,920,366...45,977,162
Ensembl chr22:45,920,366...45,977,162 		JBrowse link
G WT1 WT1 transcription factor IAGP HPO MIM:194072 NCBI chr11:32,387,775...32,435,539
Ensembl chr11:32,387,775...32,435,564 		JBrowse link
G XRCC2 X-ray repair cross complementing 2 IAGP HPO ORPHA:84 NCBI chr 7:152,644,776...152,676,141
Ensembl chr 7:152,644,776...152,676,193 		JBrowse link
Absent vas deferens term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADGRG2 adhesion G protein-coupled receptor G2 IAGP HPO MIM:300985 ORPHA:48 NCBI chr  X:18,989,307...19,122,956
Ensembl chr  X:18,989,307...19,122,637 		JBrowse link
G AR androgen receptor IAGP HPO MIM:312300 NCBI chr  X:67,544,021...67,730,619
Ensembl chr  X:67,544,021...67,730,619 		JBrowse link
G CEACAM3 CEA cell adhesion molecule 3 IAGP HPO ORPHA:586 NCBI chr19:41,796,587...41,811,554
Ensembl chr19:41,796,587...41,811,554 		JBrowse link
G CEACAM6 CEA cell adhesion molecule 6 IAGP HPO ORPHA:586 NCBI chr19:41,755,530...41,772,211
Ensembl chr19:41,750,977...41,772,211 		JBrowse link
G CFTR CF transmembrane conductance regulator IAGP HPO MIM:277180 ORPHA:48 ORPHA:586 NCBI chr 7:117,480,025...117,668,665
Ensembl chr 7:117,287,120...117,715,971 		JBrowse link
G CLCA4 chloride channel accessory 4 IAGP HPO ORPHA:586 NCBI chr 1:86,547,078...86,580,754
Ensembl chr 1:86,547,078...86,580,754 		JBrowse link
G DCTN4 dynactin subunit 4 IAGP HPO ORPHA:586 NCBI chr 5:150,708,440...150,759,017
Ensembl chr 5:150,706,840...150,759,095 		JBrowse link
G EDNRA endothelin receptor type A IAGP HPO ORPHA:586 NCBI chr 4:147,481,097...147,544,954
Ensembl chr 4:147,480,917...147,544,954 		JBrowse link
G GCLC glutamate-cysteine ligase catalytic subunit IAGP HPO ORPHA:586 NCBI chr 6:53,497,341...53,545,101
Ensembl chr 6:53,497,341...53,616,970 		JBrowse link
G GSTM3 glutathione S-transferase mu 3 IAGP HPO ORPHA:586 NCBI chr 1:109,733,937...109,741,038
Ensembl chr 1:109,733,932...109,741,038 		JBrowse link
G HFE homeostatic iron regulator IAGP HPO ORPHA:586 NCBI chr 6:26,087,429...26,098,343
Ensembl chr 6:26,087,226...26,098,343 		JBrowse link
G HMOX1 heme oxygenase 1 IAGP HPO ORPHA:586 NCBI chr22:35,381,096...35,394,207
Ensembl chr22:35,380,361...35,394,214 		JBrowse link
G HNF1B HNF1 homeobox B IAGP HPO ORPHA:93111 NCBI chr17:37,686,431...37,745,059
Ensembl chr17:37,686,431...37,745,059 		JBrowse link
G KCNN4 potassium calcium-activated channel subfamily N member 4 IAGP HPO ORPHA:586 NCBI chr19:43,766,533...43,780,973
Ensembl chr19:43,766,533...43,780,976 		JBrowse link
G MIF macrophage migration inhibitory factor IAGP HPO ORPHA:586 NCBI chr22:23,894,383...23,895,223
Ensembl chr22:23,894,383...23,895,227 		JBrowse link
G SERPINA1 serpin family A member 1 IAGP HPO ORPHA:586 NCBI chr14:94,376,747...94,390,635
Ensembl chr14:94,376,747...94,390,693 		JBrowse link
G SLC11A1 solute carrier family 11 member 1 IAGP HPO ORPHA:586 NCBI chr 2:218,382,273...218,396,894
Ensembl chr 2:218,382,029...218,396,894 		JBrowse link
G SLC26A9 solute carrier family 26 member 9 IAGP HPO ORPHA:586 NCBI chr 1:205,913,052...205,943,456
Ensembl chr 1:205,913,048...205,943,460 		JBrowse link
G SLC6A14 solute carrier family 6 member 14 IAGP HPO ORPHA:586 NCBI chr  X:116,436,606...116,461,458
Ensembl chr  X:116,436,606...116,461,458 		JBrowse link
G SLC9A3 solute carrier family 9 member A3 IAGP HPO ORPHA:586 NCBI chr 5:470,456...524,449
Ensembl chr 5:470,456...524,449 		JBrowse link
G STX1A syntaxin 1A IAGP HPO ORPHA:586 NCBI chr 7:73,699,210...73,719,669
Ensembl chr 7:73,699,206...73,719,672 		JBrowse link
G TGFB1 transforming growth factor beta 1 IAGP HPO ORPHA:586 NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922 		JBrowse link
Agonadism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DHX37 DEAH-box helicase 37 IAGP HPO ORPHA:983 NCBI chr12:124,946,826...124,989,131
Ensembl chr12:124,946,825...124,989,131 		JBrowse link
G DMRT2 doublesex and mab-3 related transcription factor 2 IAGP ClinVar Annotator: match by term: Gonadal agenesis ClinVar PMID:25741868 NCBI chr 9:1,050,357...1,057,552
Ensembl chr 9:1,049,858...1,057,552 		JBrowse link
G TRAIP TRAF interacting protein IAGP HPO MIM:616777 NCBI chr 3:49,828,601...49,856,564
Ensembl chr 3:49,828,601...49,856,574 		JBrowse link
Aplasia of the fallopian tube term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G WNT4 Wnt family member 4 IAGP HPO MIM:158330 NCBI chr 1:22,117,313...22,143,097
Ensembl chr 1:22,117,313...22,143,969 		JBrowse link
Aplasia of the ovary term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AR androgen receptor IAGP HPO ORPHA:90797 NCBI chr  X:67,544,021...67,730,619
Ensembl chr  X:67,544,021...67,730,619 		JBrowse link
G PMM2 phosphomannomutase 2 IAGP HPO ORPHA:79318 NCBI chr16:8,797,839...8,849,325
Ensembl chr16:8,788,823...8,862,534 		JBrowse link
G PSMC3IP PSMC3 interacting protein IAGP HPO MIM:614324 NCBI chr17:42,572,310...42,577,831
Ensembl chr17:42,572,310...42,577,831 		JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 IAGP HPO MIM:151100 NCBI chr12:112,418,947...112,509,918
Ensembl chr12:112,418,351...112,509,918 		JBrowse link
G TP63 tumor protein p63 IAGP HPO ORPHA:69085 NCBI chr 3:189,596,746...189,897,276
Ensembl chr 3:189,631,389...189,897,276 		JBrowse link
Aplasia of the uterus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AR androgen receptor IAGP ClinVar Annotator: match by term: Aplasia of the uterus ClinVar
HPO		 PMID:25741868 ORPHA:90797 ORPHA:99429 NCBI chr  X:67,544,021...67,730,619
Ensembl chr  X:67,544,021...67,730,619 		JBrowse link
G ARID1B AT-rich interaction domain 1B IAGP HPO MIM:135900 NCBI chr 6:156,776,026...157,210,779
Ensembl chr 6:156,776,020...157,210,779 		JBrowse link
G CPLX1 complexin 1 IAGP HPO MIM:194190 ORPHA:280 NCBI chr 4:784,957...826,129
Ensembl chr 4:784,957...826,129 		JBrowse link
G CTBP1 C-terminal binding protein 1 IAGP HPO MIM:194190 ORPHA:280 NCBI chr 4:1,211,445...1,250,355
Ensembl chr 4:1,211,445...1,250,333 		JBrowse link
G CYP11A1 cytochrome P450 family 11 subfamily A member 1 IAGP HPO ORPHA:168558 ORPHA:289548 NCBI chr15:74,337,762...74,367,646
Ensembl chr15:74,337,759...74,367,646 		JBrowse link
G CYP17A1 cytochrome P450 family 17 subfamily A member 1 IAGP HPO ORPHA:90793 NCBI chr10:102,830,531...102,837,413
Ensembl chr10:102,830,531...102,837,472 		JBrowse link
G DHX37 DEAH-box helicase 37 IAGP HPO MIM:273250 NCBI chr12:124,946,826...124,989,131
Ensembl chr12:124,946,825...124,989,131 		JBrowse link
G FANCL FA complementation group L IAGP HPO MIM:614083 NCBI chr 2:58,159,243...58,241,380
Ensembl chr 2:58,159,243...58,241,410 		JBrowse link
G FGFRL1 fibroblast growth factor receptor like 1 IAGP HPO MIM:194190 NCBI chr 4:1,010,212...1,026,898
Ensembl chr 4:1,009,936...1,026,898 		JBrowse link
G GATA3 GATA binding protein 3 IAGP HPO MIM:146255 ORPHA:2237 NCBI chr10:8,045,333...8,075,198
Ensembl chr10:8,045,378...8,075,198 		JBrowse link
G LETM1 leucine zipper and EF-hand containing transmembrane protein 1 IAGP HPO MIM:194190 ORPHA:280 NCBI chr 4:1,811,479...1,856,156
Ensembl chr 4:1,811,479...1,856,156 		JBrowse link
G LOC109504725 androgen receptor repeat instability region IAGP ClinVar Annotator: match by term: Aplasia of the uterus ClinVar PMID:25741868 NCBI chr  X:67,545,317...67,545,419 JBrowse link
G MINPP1 multiple inositol-polyphosphate phosphatase 1 IAGP HPO ORPHA:284339 NCBI chr10:87,504,893...87,553,461
Ensembl chr10:87,504,875...87,553,461 		JBrowse link
G MYRF myelin regulatory factor IAGP HPO MIM:618280 NCBI chr11:61,752,636...61,788,518
Ensembl chr11:61,752,636...61,788,518 		JBrowse link
G NELFA negative elongation factor complex member A IAGP HPO ORPHA:280 NCBI chr 4:1,982,723...2,008,974
Ensembl chr 4:1,982,717...2,041,903 		JBrowse link
G NSD2 nuclear receptor binding SET domain protein 2 IAGP HPO MIM:194190 ORPHA:280 NCBI chr 4:1,871,393...1,982,192
Ensembl chr 4:1,871,393...1,982,207 		JBrowse link
G PIGG phosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) IAGP HPO ORPHA:280 NCBI chr 4:499,210...540,200
Ensembl chr 4:499,210...540,200 		JBrowse link
G PPP2R1A protein phosphatase 2 scaffold subunit Aalpha IAGP HPO ORPHA:457284 NCBI chr19:52,190,052...52,229,518
Ensembl chr19:52,170,936...52,229,518 		JBrowse link
G RBM8A RNA binding motif protein 8A IAGP HPO MIM:274000 ORPHA:3320 NCBI chr 1:145,921,556...145,927,484
Ensembl chr 1:145,921,556...145,927,678 		JBrowse link
G TOE1 target of EGR1, exonuclease IAGP HPO ORPHA:284339 NCBI chr 1:45,340,170...45,343,973
Ensembl chr 1:45,340,052...45,343,973 		JBrowse link
G TP63 tumor protein p63 IAGP HPO ORPHA:69085 NCBI chr 3:189,596,746...189,897,276
Ensembl chr 3:189,631,389...189,897,276 		JBrowse link
G TXNDC15 thioredoxin domain containing 15 IAGP HPO MIM:619879 NCBI chr 5:134,873,770...134,901,635
Ensembl chr 5:134,874,371...134,901,635 		JBrowse link
G WNT4 Wnt family member 4 IAGP HPO MIM:158330 NCBI chr 1:22,117,313...22,143,097
Ensembl chr 1:22,117,313...22,143,969 		JBrowse link
G WNT7A Wnt family member 7A IAGP HPO MIM:276820 ORPHA:2879 NCBI chr 3:13,816,258...13,880,071
Ensembl chr 3:13,816,258...13,880,071 		JBrowse link
Aplasia of the vagina term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GATA3 GATA binding protein 3 IAGP HPO MIM:146255 NCBI chr10:8,045,333...8,075,198
Ensembl chr10:8,045,378...8,075,198 		JBrowse link
G PAX3 paired box 3 IAGP HPO MIM:193500 NCBI chr 2:222,199,887...222,298,998
Ensembl chr 2:222,199,887...222,298,998 		JBrowse link
G PPP2R1A protein phosphatase 2 scaffold subunit Aalpha IAGP HPO ORPHA:457284 NCBI chr19:52,190,052...52,229,518
Ensembl chr19:52,170,936...52,229,518 		JBrowse link
G WNT4 Wnt family member 4 IAGP HPO MIM:158330 NCBI chr 1:22,117,313...22,143,097
Ensembl chr 1:22,117,313...22,143,969 		JBrowse link
Aplasia/Hypoplasia of the fallopian tube term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AR androgen receptor IAGP HPO ORPHA:99429 NCBI chr  X:67,544,021...67,730,619
Ensembl chr  X:67,544,021...67,730,619 		JBrowse link
Aplasia/hypoplasia of the uterus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BMP15 bone morphogenetic protein 15 IAGP HPO ORPHA:243 NCBI chr  X:50,910,735...50,916,641
Ensembl chr  X:50,910,735...50,916,641 		JBrowse link
G BNC1 basonuclin zinc finger protein 1 IAGP HPO ORPHA:243 NCBI chr15:83,255,884...83,284,664
Ensembl chr15:83,255,884...83,284,664 		JBrowse link
G FSHR follicle stimulating hormone receptor IAGP HPO ORPHA:243 NCBI chr 2:48,962,157...49,154,515
Ensembl chr 2:48,962,157...49,154,527 		JBrowse link
G GLI3 GLI family zinc finger 3 IAGP HPO ORPHA:672 NCBI chr 7:41,960,949...42,264,268
Ensembl chr 7:41,960,949...42,264,100 		JBrowse link
G HNF1B HNF1 homeobox B IAGP HPO ORPHA:2578 NCBI chr17:37,686,431...37,745,059
Ensembl chr17:37,686,431...37,745,059 		JBrowse link
G MRPS22 mitochondrial ribosomal protein S22 IAGP HPO ORPHA:243 NCBI chr 3:139,343,994...139,357,140
Ensembl chr 3:139,005,806...139,360,497 		JBrowse link
G MSH4 mutS homolog 4 IAGP HPO ORPHA:243 NCBI chr 1:75,796,882...75,913,242
Ensembl chr 1:75,796,882...75,913,242 		JBrowse link
G NR5A1 nuclear receptor subfamily 5 group A member 1 IAGP HPO ORPHA:243 NCBI chr 9:124,481,236...124,507,399
Ensembl chr 9:124,481,236...124,507,420 		JBrowse link
G NUP107 nucleoporin 107 IAGP HPO ORPHA:243 NCBI chr12:68,686,978...68,745,809
Ensembl chr12:68,686,951...68,745,809 		JBrowse link
G POLR3H RNA polymerase III subunit H IAGP HPO ORPHA:243 NCBI chr22:41,525,799...41,544,606
Ensembl chr22:41,525,799...41,544,606 		JBrowse link
G PSMC3IP PSMC3 interacting protein IAGP HPO ORPHA:243 NCBI chr17:42,572,310...42,577,831
Ensembl chr17:42,572,310...42,577,831 		JBrowse link
G SPIDR scaffold protein involved in DNA repair IAGP HPO ORPHA:243 NCBI chr 8:47,260,878...47,736,306
Ensembl chr 8:47,260,878...47,736,306 		JBrowse link
G WNT4 Wnt family member 4 IAGP HPO ORPHA:2578 NCBI chr 1:22,117,313...22,143,097
Ensembl chr 1:22,117,313...22,143,969 		JBrowse link
G ZSWIM7 zinc finger SWIM-type containing 7 IAGP HPO ORPHA:243 NCBI chr17:15,976,560...15,999,704
Ensembl chr17:15,976,560...15,999,717 		JBrowse link
Aplasia/Hypoplasia of the vagina term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARL6 ARF like GTPase 6 IAGP HPO ORPHA:110 NCBI chr 3:97,764,521...97,801,242
Ensembl chr 3:97,764,521...97,801,229 		JBrowse link
G BBIP1 BBSome interacting protein 1 IAGP HPO ORPHA:110 NCBI chr10:110,898,730...110,919,366
Ensembl chr10:110,898,730...110,919,201 		JBrowse link
G BBS1 Bardet-Biedl syndrome 1 IAGP HPO ORPHA:110 NCBI chr11:66,510,635...66,533,598
Ensembl chr11:66,510,606...66,533,613 		JBrowse link
G BBS10 Bardet-Biedl syndrome 10 IAGP HPO ORPHA:110 NCBI chr12:76,344,474...76,348,415
Ensembl chr12:76,344,474...76,348,415 		JBrowse link
G BBS12 Bardet-Biedl syndrome 12 IAGP HPO ORPHA:110 NCBI chr 4:122,700,442...122,744,939
Ensembl chr 4:122,732,702...122,744,942 		JBrowse link
G BBS2 Bardet-Biedl syndrome 2 IAGP HPO ORPHA:110 NCBI chr16:56,470,403...56,520,024
Ensembl chr16:56,465,640...56,582,667 		JBrowse link
G BBS4 Bardet-Biedl syndrome 4 IAGP HPO ORPHA:110 NCBI chr15:72,686,207...72,738,473
Ensembl chr15:72,686,186...72,742,006 		JBrowse link
G BBS5 Bardet-Biedl syndrome 5 IAGP HPO ORPHA:110 NCBI chr 2:169,479,494...169,506,655
Ensembl chr 2:169,479,480...169,506,655 		JBrowse link
G BBS7 Bardet-Biedl syndrome 7 IAGP HPO ORPHA:110 NCBI chr 4:121,824,329...121,870,474
Ensembl chr 4:121,824,329...121,870,487 		JBrowse link
G BBS9 Bardet-Biedl syndrome 9 IAGP HPO ORPHA:110 NCBI chr 7:33,129,285...33,635,767
Ensembl chr 7:33,109,557...33,877,180 		JBrowse link
G CEP19 centrosomal protein 19 IAGP HPO ORPHA:110 NCBI chr 3:196,706,277...196,712,250
Ensembl chr 3:196,706,277...196,712,250 		JBrowse link
G CEP290 centrosomal protein 290 IAGP HPO ORPHA:110 NCBI chr12:88,049,016...88,142,088
Ensembl chr12:88,049,016...88,142,099 		JBrowse link
G CFAP418 cilia and flagella associated protein 418 IAGP HPO ORPHA:110 NCBI chr 8:95,244,913...95,269,201
Ensembl chr 8:95,244,913...95,269,201 		JBrowse link
G GLI3 GLI family zinc finger 3 IAGP HPO ORPHA:672 NCBI chr 7:41,960,949...42,264,268
Ensembl chr 7:41,960,949...42,264,100 		JBrowse link
G IFT172 intraflagellar transport 172 IAGP HPO ORPHA:110 NCBI chr 2:27,444,377...27,489,743
Ensembl chr 2:27,444,377...27,489,805 		JBrowse link
G IFT27 intraflagellar transport 27 IAGP HPO ORPHA:110 NCBI chr22:36,758,211...36,776,119
Ensembl chr22:36,758,202...36,776,256 		JBrowse link
G IFT74 intraflagellar transport 74 IAGP HPO ORPHA:110 NCBI chr 9:26,947,110...27,066,134
Ensembl chr 9:26,947,039...27,066,134 		JBrowse link
G LZTFL1 leucine zipper transcription factor like 1 IAGP HPO ORPHA:110 NCBI chr 3:45,823,316...45,915,724
Ensembl chr 3:45,823,316...45,916,042 		JBrowse link
G MKKS MKKS centrosomal shuttling protein IAGP HPO ORPHA:110 NCBI chr20:10,401,009...10,434,222
Ensembl chr20:10,401,009...10,434,222 		JBrowse link
G MKS1 MKS transition zone complex subunit 1 IAGP HPO ORPHA:110 NCBI chr17:58,205,441...58,219,255
Ensembl chr17:58,205,441...58,219,605 		JBrowse link
G NPHP1 nephrocystin 1 IAGP HPO ORPHA:110 NCBI chr 2:110,123,348...110,205,013
Ensembl chr 2:110,122,311...110,205,066 		JBrowse link
G SCAPER S-phase cyclin A associated protein in the ER IAGP HPO ORPHA:110 NCBI chr15:76,347,904...76,905,340
Ensembl chr15:76,347,904...76,905,444 		JBrowse link
G SCLT1 sodium channel and clathrin linker 1 IAGP HPO ORPHA:110 NCBI chr 4:128,873,241...129,093,539
Ensembl chr 4:128,864,921...129,093,600 		JBrowse link
G SDCCAG8 SHH signaling and ciliogenesis regulator SDCCAG8 IAGP HPO ORPHA:110 NCBI chr 1:243,256,041...243,500,091
Ensembl chr 1:243,256,034...243,500,091 		JBrowse link
G TRIM32 tripartite motif containing 32 IAGP HPO ORPHA:110 NCBI chr 9:116,687,305...116,701,299
Ensembl chr 9:116,687,305...116,701,300 		JBrowse link
G TTC8 tetratricopeptide repeat domain 8 IAGP HPO ORPHA:110 NCBI chr14:88,824,153...88,881,079
Ensembl chr14:88,824,153...88,881,078 		JBrowse link
G WDPCP WD repeat containing planar cell polarity effector IAGP HPO ORPHA:110 NCBI chr 2:63,119,559...63,840,826
Ensembl chr 2:63,119,559...63,827,843 		JBrowse link
Atretic vas deferens term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HNF1B HNF1 homeobox B IAGP HPO MIM:137920 NCBI chr17:37,686,431...37,745,059
Ensembl chr17:37,686,431...37,745,059 		JBrowse link
Bicornuate uterus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALG9 ALG9 alpha-1,2-mannosyltransferase IAGP HPO MIM:263210 ORPHA:79328 NCBI chr11:111,768,025...111,871,581
Ensembl chr11:111,782,195...111,871,581 		JBrowse link
G BRCA1 BRCA1 DNA repair associated IAGP HPO ORPHA:84 NCBI chr17:43,044,295...43,170,327
Ensembl chr17:43,044,295...43,170,245 		JBrowse link
G BRCA2 BRCA2 DNA repair associated IAGP HPO ORPHA:84 NCBI chr13:32,315,077...32,400,268
Ensembl chr13:32,315,086...32,400,268 		JBrowse link
G BRIP1 BRCA1 interacting DNA helicase 1 IAGP HPO ORPHA:84 NCBI chr17:61,679,139...61,863,528
Ensembl chr17:61,679,139...61,863,559 		JBrowse link
G CCNQ cyclin Q IAGP HPO MIM:300707 ORPHA:140952 NCBI chr  X:153,587,925...153,599,139
Ensembl chr  X:153,587,925...153,600,045 		JBrowse link
G DHCR7 7-dehydrocholesterol reductase IAGP HPO MIM:270400 NCBI chr11:71,427,287...71,449,043
Ensembl chr11:71,428,193...71,452,868 		JBrowse link
G ERCC4 ERCC excision repair 4, endonuclease catalytic subunit IAGP HPO ORPHA:84 NCBI chr16:13,920,154...13,952,348
Ensembl chr16:13,920,138...13,952,348 		JBrowse link
G ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2 IAGP HPO MIM:268300 NCBI chr 8:27,771,974...27,819,660
Ensembl chr 8:27,771,949...27,812,640 		JBrowse link
G FANCA FA complementation group A IAGP HPO ORPHA:84 NCBI chr16:89,737,549...89,816,647
Ensembl chr16:89,726,683...89,816,977 		JBrowse link
G FANCB FA complementation group B IAGP HPO ORPHA:84 NCBI chr  X:14,689,524...14,873,069
Ensembl chr  X:14,690,388...14,873,255 		JBrowse link
G FANCC FA complementation group C IAGP HPO ORPHA:84 NCBI chr 9:95,099,054...95,317,709
Ensembl chr 9:95,099,054...95,426,796 		JBrowse link
G FANCD2 FA complementation group D2 IAGP HPO ORPHA:84 NCBI chr 3:10,026,437...10,101,932
Ensembl chr 3:10,026,370...10,101,932 		JBrowse link
G FANCE FA complementation group E IAGP HPO ORPHA:84 NCBI chr 6:35,452,338...35,467,102
Ensembl chr 6:35,452,338...35,467,104 		JBrowse link
G FANCF FA complementation group F IAGP HPO ORPHA:84 NCBI chr11:22,622,533...22,625,823
Ensembl chr11:22,622,533...22,625,823 		JBrowse link
G FANCG FA complementation group G IAGP HPO ORPHA:84 NCBI chr 9:35,073,839...35,079,942
Ensembl chr 9:35,073,835...35,080,004 		JBrowse link
G FANCI FA complementation group I IAGP HPO ORPHA:84 NCBI chr15:89,243,979...89,317,259
Ensembl chr15:89,243,945...89,317,261 		JBrowse link
G FANCL FA complementation group L IAGP HPO ORPHA:84 NCBI chr 2:58,159,243...58,241,380
Ensembl chr 2:58,159,243...58,241,410 		JBrowse link
G FANCM FA complementation group M IAGP HPO ORPHA:84 NCBI chr14:45,135,930...45,200,890
Ensembl chr14:45,135,930...45,200,890 		JBrowse link
G FGF10 fibroblast growth factor 10 IAGP HPO ORPHA:2363 NCBI chr 5:44,300,247...44,389,420
Ensembl chr 5:44,300,247...44,389,706 		JBrowse link
G FGFR2 fibroblast growth factor receptor 2 IAGP HPO ORPHA:2363 NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458 		JBrowse link
G FGFR3 fibroblast growth factor receptor 3 IAGP HPO ORPHA:2363 NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872 		JBrowse link
G FOXF1 forkhead box F1 IAGP HPO MIM:265380 NCBI chr16:86,510,527...86,515,422
Ensembl chr16:86,510,527...86,515,422 		JBrowse link
G FRAS1 Fraser extracellular matrix complex subunit 1 IAGP HPO MIM:219000 ORPHA:2052 NCBI chr 4:78,057,323...78,544,269
Ensembl chr 4:78,057,323...78,544,269 		JBrowse link
G FREM2 FRAS1 related extracellular matrix 2 IAGP HPO ORPHA:2052 NCBI chr13:38,687,077...38,887,131
Ensembl chr13:38,687,077...38,887,131 		JBrowse link
G GRIP1 glutamate receptor interacting protein 1 IAGP HPO ORPHA:2052 NCBI chr12:66,347,431...67,069,338
Ensembl chr12:66,347,431...67,069,162 		JBrowse link
G HNF1B HNF1 homeobox B IAGP HPO MIM:137920 ORPHA:2578 ORPHA:93111 NCBI chr17:37,686,431...37,745,059
Ensembl chr17:37,686,431...37,745,059 		JBrowse link
G HOXA13 homeobox A13 IAGP HPO ORPHA:2438 NCBI chr 7:27,194,364...27,200,091
Ensembl chr 7:27,193,503...27,200,091 		JBrowse link
G ITGA8 integrin subunit alpha 8 IAGP HPO MIM:191830 NCBI chr10:15,513,954...15,719,922
Ensembl chr10:15,513,954...15,719,922 		JBrowse link
G LARS2 leucyl-tRNA synthetase 2, mitochondrial IAGP HPO MIM:615300 NCBI chr 3:45,388,576...45,549,407
Ensembl chr 3:45,388,561...45,554,726 		JBrowse link
G LRP2 LDL receptor related protein 2 IAGP HPO MIM:222448 ORPHA:2143 NCBI chr 2:169,127,109...169,362,534
Ensembl chr 2:169,127,109...169,362,534 		JBrowse link
G MAD2L2 mitotic arrest deficient 2 like 2 IAGP HPO ORPHA:84 NCBI chr 1:11,674,480...11,691,830
Ensembl chr 1:11,657,230...11,691,811 		JBrowse link
G MID1 midline 1 IAGP HPO ORPHA:2745 NCBI chr  X:10,445,310...10,833,683
Ensembl chr  X:10,445,310...10,833,654 		JBrowse link
G MNX1 motor neuron and pancreas homeobox 1 IAGP HPO MIM:176450 ORPHA:1552 NCBI chr 7:157,004,854...157,010,663
Ensembl chr 7:156,994,051...157,010,663 		JBrowse link
G PALB2 partner and localizer of BRCA2 IAGP HPO ORPHA:84 NCBI chr16:23,603,165...23,641,310
Ensembl chr16:23,603,160...23,641,321 		JBrowse link
G PIGN phosphatidylinositol glycan anchor biosynthesis class N IAGP HPO ORPHA:2059 NCBI chr18:62,017,615...62,187,056
Ensembl chr18:61,905,255...62,187,118 		JBrowse link
G RAD51 RAD51 recombinase IAGP HPO ORPHA:84 NCBI chr15:40,694,733...40,732,340
Ensembl chr15:40,694,774...40,732,340 		JBrowse link
G RAD51C RAD51 paralog C IAGP HPO ORPHA:84 NCBI chr17:58,692,573...58,735,611
Ensembl chr17:58,692,573...58,735,611 		JBrowse link
G RARB retinoic acid receptor beta IAGP HPO MIM:615524 NCBI chr 3:24,829,321...25,597,932
Ensembl chr 3:24,687,887...25,597,932 		JBrowse link
G RFWD3 ring finger and WD repeat domain 3 IAGP HPO ORPHA:84 NCBI chr16:74,621,399...74,666,877
Ensembl chr16:74,621,399...74,666,877 		JBrowse link
G RIPK4 receptor interacting serine/threonine kinase 4 IAGP HPO MIM:263650 NCBI chr21:41,739,373...41,767,052
Ensembl chr21:41,739,369...41,767,089 		JBrowse link
G SETBP1 SET binding protein 1 IAGP HPO MIM:269150 NCBI chr18:44,680,073...45,068,510
Ensembl chr18:44,680,173...45,068,510 		JBrowse link
G SF3B4 splicing factor 3b subunit 4 IAGP HPO MIM:154400 NCBI chr 1:149,923,317...149,927,803
Ensembl chr 1:149,923,317...149,927,803 		JBrowse link
G SLX4 SLX4 structure-specific endonuclease subunit IAGP HPO ORPHA:84 NCBI chr16:3,581,181...3,611,606
Ensembl chr16:3,581,181...3,611,606 		JBrowse link
G SPECC1L sperm antigen with calponin homology and coiled-coil domains 1 like IAGP HPO MIM:145420 NCBI chr22:24,270,831...24,417,738
Ensembl chr22:24,270,817...24,417,739 		JBrowse link
G SRY sex determining region Y IAGP HPO MIM:400045 NCBI chr  Y:2,786,855...2,787,682
Ensembl chr  Y:2,786,855...2,787,682 		JBrowse link
G STRA6 signaling receptor and transporter of retinol STRA6 IAGP HPO MIM:601186 NCBI chr15:74,179,466...74,212,259
Ensembl chr15:74,179,466...74,212,267 		JBrowse link
G TBX3 T-box transcription factor 3 IAGP HPO MIM:181450 NCBI chr12:114,670,255...114,684,175
Ensembl chr12:114,670,255...114,684,175 		JBrowse link
G TNXB tenascin XB IAGP HPO MIM:606408 NCBI chr 6:32,041,153...32,109,338
Ensembl chr 6:32,041,153...32,115,334 		JBrowse link
G UBE2T ubiquitin conjugating enzyme E2 T IAGP HPO ORPHA:84 NCBI chr 1:202,331,657...202,341,936
Ensembl chr 1:202,331,544...202,341,984 		JBrowse link
G WNT4 Wnt family member 4 IAGP HPO ORPHA:2578 NCBI chr 1:22,117,313...22,143,097
Ensembl chr 1:22,117,313...22,143,969 		JBrowse link
G WT1 WT1 transcription factor IAGP HPO MIM:608978 NCBI chr11:32,387,775...32,435,539
Ensembl chr11:32,387,775...32,435,564 		JBrowse link
G XRCC2 X-ray repair cross complementing 2 IAGP HPO ORPHA:84 NCBI chr 7:152,644,776...152,676,141
Ensembl chr 7:152,644,776...152,676,193 		JBrowse link
Bifid uterus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DACT1 dishevelled binding antagonist of beta catenin 1 IAGP HPO MIM:617466 NCBI chr14:58,634,061...58,648,321
Ensembl chr14:58,633,967...58,648,321 		JBrowse link
G HYLS1 HYLS1 centriolar and ciliogenesis associated IAGP HPO MIM:236680 NCBI chr11:125,883,614...125,900,646
Ensembl chr11:125,883,614...125,900,646 		JBrowse link
G PHGDH phosphoglycerate dehydrogenase IAGP HPO MIM:256520 NCBI chr 1:119,711,934...119,744,215
Ensembl chr 1:119,648,411...119,744,218 		JBrowse link
G SALL1 spalt like transcription factor 1 IAGP HPO MIM:107480 NCBI chr16:51,135,982...51,152,334
Ensembl chr16:51,135,982...51,152,334 		JBrowse link
Blind vagina term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AR androgen receptor IAGP HPO MIM:300068 ORPHA:90797 ORPHA:99429 NCBI chr  X:67,544,021...67,730,619
Ensembl chr  X:67,544,021...67,730,619 		JBrowse link
G CYP17A1 cytochrome P450 family 17 subfamily A member 1 IAGP HPO ORPHA:90793 NCBI chr10:102,830,531...102,837,413
Ensembl chr10:102,830,531...102,837,472 		JBrowse link
G MAMLD1 mastermind like domain containing 1 IAGP HPO ORPHA:456328 NCBI chr  X:150,361,572...150,514,173
Ensembl chr  X:150,361,422...150,514,178 		JBrowse link
G MTM1 myotubularin 1 IAGP HPO ORPHA:456328 NCBI chr  X:150,562,653...150,673,143
Ensembl chr  X:150,568,417...150,673,143 		JBrowse link
G WT1 WT1 transcription factor IAGP HPO MIM:608978 NCBI chr11:32,387,775...32,435,539
Ensembl chr11:32,387,775...32,435,564 		JBrowse link
Cervical insufficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL1A1 collagen type I alpha 1 chain IAGP HPO ORPHA:287 NCBI chr17:50,184,101...50,201,631
Ensembl chr17:50,184,101...50,201,632 		JBrowse link
G COL3A1 collagen type III alpha 1 chain IAGP HPO MIM:130050 NCBI chr 2:188,974,373...189,012,746
Ensembl chr 2:188,974,373...189,012,746 		JBrowse link
G COL5A1 collagen type V alpha 1 chain IAGP HPO ORPHA:287 NCBI chr 9:134,641,803...134,844,843
Ensembl chr 9:134,641,803...134,844,843 		JBrowse link
G COL5A2 collagen type V alpha 2 chain IAGP HPO ORPHA:287 NCBI chr 2:189,031,898...189,441,111
Ensembl chr 2:189,031,898...189,225,312 		JBrowse link
Cervical intraepithelial neoplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GATA2 GATA binding protein 2 IAGP HPO MIM:614172 NCBI chr 3:128,479,422...128,493,201
Ensembl chr 3:128,479,427...128,493,201 		JBrowse link
G MTHFR methylenetetrahydrofolate reductase susceptibility IAGP DNA:missense mutation:cds:g.1298A>C (human) RGD PMID:27771518 RGD:38501051 NCBI chr 1:11,785,723...11,805,964
Ensembl chr 1:11,785,723...11,806,455 		JBrowse link
Cervical neoplasm term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HLA-DPB1 major histocompatibility complex, class II, DP beta 1 susceptibility IAGP DNA:polymorphism: :HLA-DPB1*1301 RGD PMID:17349874 RGD:150429811 NCBI chr 6:33,075,990...33,089,696
Ensembl chr 6:33,075,936...33,089,696 		JBrowse link
Cervicitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PLG plasminogen IAGP HPO ORPHA:722 NCBI chr 6:160,702,193...160,754,097
Ensembl chr 6:160,702,194...160,754,097 		JBrowse link
Cervix cancer term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BRIP1 BRCA1 interacting DNA helicase 1 IAGP ClinVar Annotator: match by term: Cervix cancer ClinVar PMID:18483852 PMID:25741868 PMID:26467025 PMID:26790966 PMID:28492532 More... NCBI chr17:61,679,139...61,863,528
Ensembl chr17:61,679,139...61,863,559 		JBrowse link
G CDKN1B cyclin dependent kinase inhibitor 1B IAGP HPO ORPHA:276152 NCBI chr12:12,717,368...12,722,369
Ensembl chr12:12,685,498...12,722,369 		JBrowse link
G CXCR4 C-X-C motif chemokine receptor 4 IAGP HPO ORPHA:51636 NCBI chr 2:136,114,349...136,118,149
Ensembl chr 2:136,114,349...136,119,177 		JBrowse link
G FGFR3 fibroblast growth factor receptor 3 IAGP ClinVar Annotator: match by term: Cervix cancer ClinVar
HPO		 PMID:1908846 PMID:7647778 PMID:7649548 PMID:7670477 PMID:7702086 More... MIM:603956 NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872 		JBrowse link
G MAD1L1 mitotic arrest deficient 1 like 1 IAGP HPO MIM:620189 NCBI chr 7:1,815,795...2,232,945
Ensembl chr 7:1,815,793...2,233,243 		JBrowse link
G SRY sex determining region Y IAGP HPO ORPHA:1772 NCBI chr  Y:2,786,855...2,787,682
Ensembl chr  Y:2,786,855...2,787,682 		JBrowse link
G STK11 serine/threonine kinase 11 IAGP HPO ORPHA:2869 NCBI chr19:1,205,778...1,228,431
Ensembl chr19:1,177,558...1,228,431 		JBrowse link
G TP53 tumor protein p53 IAGP ClinVar Annotator: match by term: Cervix cancer ClinVar PMID:1349102 PMID:1849234 PMID:8001119 PMID:8843196 PMID:9407971 More... NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,546 		JBrowse link
G TP73 tumor protein p73 susceptibility IAGP DNA:SNPs:exon 2: 4G>A, 14C>T (rs2273953, rs1801173) RGD PMID:30420492 RGD:151347580 NCBI chr 1:3,652,516...3,736,201
Ensembl chr 1:3,652,516...3,736,201 		JBrowse link
Cystocele term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL3A1 collagen type III alpha 1 chain IAGP HPO MIM:130050 ORPHA:286 NCBI chr 2:188,974,373...189,012,746
Ensembl chr 2:188,974,373...189,012,746 		JBrowse link
G SMAD3 SMAD family member 3 IAGP HPO MIM:613795 NCBI chr15:67,065,602...67,195,169
Ensembl chr15:67,063,763...67,195,173 		JBrowse link
Dysgerminoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BRCA1 BRCA1 DNA repair associated IAGP ClinVar Annotator: match by term: Dysgerminoma ClinVar PMID:9150151 PMID:11376024 PMID:16683254 PMID:19491284 PMID:20104584 More... NCBI chr17:43,044,295...43,170,327
Ensembl chr17:43,044,295...43,170,245 		JBrowse link
G DHH desert hedgehog signaling molecule IAGP HPO MIM:233420 NCBI chr12:49,086,656...49,094,801
Ensembl chr12:49,086,656...49,094,801 		JBrowse link
G FGFR2 fibroblast growth factor receptor 2 IAGP HPO MIM:123500 NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458 		JBrowse link
G KIT KIT proto-oncogene, receptor tyrosine kinase IAGP ClinVar Annotator: match by term: Dysgerminoma ClinVar PMID:7479840 PMID:7691885 PMID:8589724 PMID:9827716 PMID:9990072 More... NCBI chr 4:54,657,957...54,740,715
Ensembl chr 4:54,657,267...54,740,783 		JBrowse link
G MAP3K1 mitogen-activated protein kinase kinase kinase 1 IAGP HPO MIM:613762 NCBI chr 5:56,815,549...56,896,152
Ensembl chr 5:56,815,549...56,896,152 		JBrowse link
G SET SET nuclear proto-oncogene IAGP ClinVar Annotator: match by term: Dysgerminoma ClinVar PMID:26822237 NCBI chr 9:128,683,424...128,696,396
Ensembl chr 9:128,683,424...128,696,400 		JBrowse link
Endometrial carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA3 ATP binding cassette subfamily A member 3 IAGP ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr16:2,275,881...2,340,728
Ensembl chr16:2,275,881...2,340,746 		JBrowse link
G AKT1 AKT serine/threonine kinase 1 IAGP HPO ORPHA:201 NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,759 		JBrowse link
G APC APC regulator of WNT signaling pathway IAGP ClinVar Annotator: match by term: Endometrial carcinoma ClinVar PMID:25741868 PMID:28492532 PMID:32885271 NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,518...112,846,239 		JBrowse link
G AREL1 apoptosis resistant E3 ubiquitin protein ligase 1 IAGP ClinVar Annotator: match by term: Endometrial carcinoma ClinVar PMID:12702580 PMID:17656264 PMID:22290698 PMID:25741868 PMID:28492532 NCBI chr14:74,661,256...74,713,080
Ensembl chr14:74,653,437...74,713,117 		JBrowse link
G ARID1A AT-rich interaction domain 1A IAGP ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr 1:26,696,015...26,782,104
Ensembl chr 1:26,693,236...26,782,104 		JBrowse link
G ATM ATM serine/threonine kinase IAGP ClinVar Annotator: match by term: Endometrial carcinoma ClinVar PMID:133608 PMID:1300551 PMID:8845835 PMID:8968760 PMID:10425038 More... NCBI chr11:108,223,067...108,369,102
Ensembl chr11:108,222,804...108,369,102 		JBrowse link
G BARD1 BRCA1 associated RING domain 1 IAGP ClinVar Annotator: match by term: Endometrial carcinoma ClinVar PMID:20077502 PMID:21344236 PMID:25330149 PMID:25741868 PMID:25980754 More... NCBI chr 2:214,725,646...214,809,683
Ensembl chr 2:214,725,646...214,809,683 		JBrowse link
G BLM BLM RecQ like helicase IAGP ClinVar Annotator: match by term: Endometrial carcinoma ClinVar PMID:25741868 NCBI chr15:90,717,346...90,816,166
Ensembl chr15:90,717,346...90,816,166 		JBrowse link
G BMPR1A bone morphogenetic protein receptor type 1A IAGP HPO ORPHA:157794 NCBI chr10:86,755,763...86,932,844
Ensembl chr10:86,755,786...86,932,825 		JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase IAGP ClinVar Annotator: match by term: Endometrial carcinoma ClinVar PMID:28492532 NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929 		JBrowse link
G BRCA1 BRCA1 DNA repair associated IAGP ClinVar Annotator: match by term: Endometrial carcinoma ClinVar PMID:7545954 PMID:7581445 PMID:7837387 PMID:7894492 PMID:8531967 More... NCBI chr17:43,044,295...43,170,327
Ensembl chr17:43,044,295...43,170,245 		JBrowse link
G BRCA2 BRCA2 DNA repair associated IAGP ClinVar Annotator: match by term: Endometrial carcinoma ClinVar PMID:8075631 PMID:8524414 PMID:8673091 PMID:8673092 PMID:8758903 More... NCBI chr13:32,315,077...32,400,268
Ensembl chr13:32,315,086...32,400,268 		JBrowse link
G BRICD5 BRICHOS domain containing 5 IAGP ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr16:2,209,253...2,210,863
Ensembl chr16:2,209,253...2,210,905 		JBrowse link
G C11orf65 chromosome 11 open reading frame 65 IAGP ClinVar Annotator: match by term: Endometrial carcinoma ClinVar PMID:12810666 PMID:19781682 PMID:21787400 PMID:23555315 PMID:25085752 More... NCBI chr11:108,308,519...108,469,881
Ensembl chr11:108,308,519...108,467,531 		JBrowse link
G CASKIN1 CASK interacting protein 1 IAGP ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr16:2,177,180...2,196,605
Ensembl chr16:2,177,180...2,196,605 		JBrowse link
G CDH1 cadherin 1 IAGP ClinVar Annotator: match by term: Endometrial carcinoma ClinVar
HPO		 PMID:2449335 PMID:8075649 PMID:9537325 PMID:9744472 PMID:11305955 More... MIM:608089 NCBI chr16:68,737,292...68,835,537
Ensembl chr16:68,737,292...68,835,537 		JBrowse link
G CHEK2 checkpoint kinase 2 IAGP ClinVar Annotator: match by term: Endometrial carcinoma ClinVar PMID:9536098 PMID:12533788 PMID:15087378 PMID:15095295 PMID:15492928 More... NCBI chr22:28,687,743...28,741,834
Ensembl chr22:28,687,743...28,742,422 		JBrowse link
G DHFR dihydrofolate reductase IAGP ClinVar Annotator: match by term: Endometrial carcinoma ClinVar PMID:9536098 PMID:17576681 PMID:20154325 PMID:25741868 PMID:26467025 More... NCBI chr 5:80,626,226...80,654,983
Ensembl chr 5:80,626,226...80,654,983 		JBrowse link
G DNASE1L2 deoxyribonuclease 1 like 2 IAGP ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr16:2,236,444...2,238,711
Ensembl chr16:2,235,816...2,238,711 		JBrowse link
G E4F1 E4F transcription factor 1 IAGP ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr16:2,223,591...2,235,742
Ensembl chr16:2,223,580...2,235,742 		JBrowse link
G ECI1 enoyl-CoA delta isomerase 1 IAGP ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr16:2,239,402...2,251,587
Ensembl chr16:2,239,402...2,252,300 		JBrowse link
G ECI1-AS1 ECI1 antisense RNA 1 IAGP ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr16:2,240,544...2,241,818
Ensembl chr16:2,240,487...2,241,818 		JBrowse link
G EGFR epidermal growth factor receptor IAGP ClinVar Annotator: match by term: Endometrial carcinoma ClinVar PMID:28492532 NCBI chr 7:55,019,017...55,211,628
Ensembl chr 7:55,019,017...55,211,628 		JBrowse link
G EPCAM epithelial cell adhesion molecule IAGP HPO MIM:613244 ORPHA:144 NCBI chr 2:47,369,311...47,387,020
Ensembl chr 2:47,345,158...47,387,601 		JBrowse link
G FGFR2 fibroblast growth factor receptor 2 IAGP ClinVar Annotator: match by term: Endometrial carcinoma ClinVar PMID:7719344 PMID:8651276 PMID:8696350 PMID:9002682 PMID:9462761 More... NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458 		JBrowse link
G FGFR3 fibroblast growth factor receptor 3 IAGP ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872 		JBrowse link
G GREM1 gremlin 1, DAN family BMP antagonist IAGP HPO ORPHA:157794 NCBI chr15:32,718,004...32,745,106
Ensembl chr15:32,718,004...32,745,106 		JBrowse link
G KLLN killin, p53 regulated DNA replication inhibitor IAGP HPO ORPHA:201 NCBI chr10:87,859,158...87,863,533
Ensembl chr10:87,859,158...87,863,533 		JBrowse link
G KRAS KRAS proto-oncogene, GTPase IAGP ClinVar Annotator: match by term: Endometrial carcinoma ClinVar
HPO		 PMID:6320174 PMID:11745231 PMID:15696205 PMID:16051643 PMID:16474405 More... ORPHA:144 NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936 		JBrowse link
G LOC112340386 H3K4me1 hESC enhancers GRCh37_chr16:2261749-2262562 and GRCh37_chr16:2262563-2263376 IAGP ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr16:2,211,748...2,213,375 JBrowse link
G LOC112340387 Sharpr-MPRA regulatory region 5944 IAGP ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr16:2,214,757...2,215,416 JBrowse link
G LOC116158483 CRISPRi-validated cis-regulatory element chr4.260 IAGP ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr 4:1,784,888...1,786,262 JBrowse link
G LOC126807437 MED14-independent group 3 enhancer GRCh37_chr5:79968379-79969578 IAGP ClinVar Annotator: match by term: Endometrial carcinoma ClinVar PMID:25741868 PMID:26467025 PMID:27300758 PMID:27476653 PMID:28492532 More... NCBI chr 5:80,672,560...80,673,759 JBrowse link
G LOC129390754 MPRA-validated peak2469 silencer IAGP ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr16:2,191,819...2,192,019 JBrowse link
G LOC129390903 MPRA-validated peak2919 silencer IAGP ClinVar Annotator: match by term: Endometrial carcinoma ClinVar PMID:25741868 PMID:28492532 NCBI chr17:58,703,225...58,703,425 JBrowse link
G LOC129933707 ATAC-STARR-seq lymphoblastoid silent region 11468 IAGP ClinVar Annotator: match by term: Endometrial carcinoma ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:26467025 PMID:27978560 More... NCBI chr 2:47,783,478...47,783,637 JBrowse link
G LOC129992009 ATAC-STARR-seq lymphoblastoid silent region 15142 IAGP ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr 4:1,748,822...1,749,021 JBrowse link
G LOC129992010 ATAC-STARR-seq lymphoblastoid silent region 15143 IAGP ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr 4:1,771,571...1,771,680 JBrowse link
G LOC129992011 ATAC-STARR-seq lymphoblastoid silent region 15144 IAGP ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr 4:1,793,111...1,793,350 JBrowse link
G LOC129992012 ATAC-STARR-seq lymphoblastoid silent region 15145 IAGP ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr 4:1,793,401...1,793,550 JBrowse link
G LOC130058211 ATAC-STARR-seq lymphoblastoid active region 10254 IAGP ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr16:2,128,582...2,128,691 JBrowse link
G LOC130058212 ATAC-STARR-seq lymphoblastoid silent region 7025 IAGP ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr16:2,135,827...2,135,996 JBrowse link
G LOC130058213 ATAC-STARR-seq lymphoblastoid silent region 7026 IAGP ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr16:2,136,007...2,136,266 JBrowse link
G LOC130058214 ATAC-STARR-seq lymphoblastoid active region 10255 IAGP ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr16:2,155,147...2,155,346 JBrowse link
G LOC130058215 ATAC-STARR-seq lymphoblastoid silent region 7033 IAGP ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr16:2,155,827...2,155,916 JBrowse link
G LOC130058216 ATAC-STARR-seq lymphoblastoid active region 10256 IAGP ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr16:2,156,217...2,156,316 JBrowse link
G LOC130058217 ATAC-STARR-seq lymphoblastoid silent region 7034 IAGP ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr16:2,205,362...2,206,011 JBrowse link
G LOC130058218 ATAC-STARR-seq lymphoblastoid active region 10258 IAGP ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr16:2,213,797...2,213,926 JBrowse link
G LOC130058219 ATAC-STARR-seq lymphoblastoid silent region 7035 IAGP ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr16:2,214,367...2,214,416 JBrowse link
G LOC130058220 ATAC-STARR-seq lymphoblastoid silent region 7037 IAGP ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr16:2,223,286...2,223,425 JBrowse link
G LOC130058221 ATAC-STARR-seq lymphoblastoid active region 10259 IAGP ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr16:2,223,486...2,223,655 JBrowse link
G LOC130058222 ATAC-STARR-seq lymphoblastoid silent region 7038 IAGP ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr16:2,223,716...2,223,805 JBrowse link
G LOC130058223 ATAC-STARR-seq lymphoblastoid active region 10260 IAGP ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr16:2,223,886...2,224,025 JBrowse link
G LOC130058224 ATAC-STARR-seq lymphoblastoid active region 10261 IAGP ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr16:2,250,919...2,251,048 JBrowse link
G LOC130058225 ATAC-STARR-seq lymphoblastoid silent region 7039 IAGP ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr16:2,251,259...2,251,728 JBrowse link
G LOC130058226 ATAC-STARR-seq lymphoblastoid active region 10262 IAGP ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr16:2,251,979...2,252,038 JBrowse link
G LOC130058227 ATAC-STARR-seq lymphoblastoid active region 10263 IAGP ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr16:2,267,934...2,268,193 JBrowse link
G LOC130058228 ATAC-STARR-seq lymphoblastoid silent region 7040 IAGP ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr16:2,268,324...2,268,773 JBrowse link
G LOC130059290 ATAC-STARR-seq lymphoblastoid silent region 7650 IAGP ClinVar Annotator: match by term: Endometrial carcinoma ClinVar PMID:11332401 PMID:11948460 PMID:16801346 PMID:24204729 PMID:25741868 More... NCBI chr16:68,737,338...68,737,407 JBrowse link
G MIR1225 microRNA 1225 IAGP ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr16:2,090,195...2,090,284
Ensembl chr16:2,090,195...2,090,284 		JBrowse link
G MIR3180-5 microRNA 3180-5 IAGP ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr16:2,135,977...2,136,129
Ensembl chr16:2,135,977...2,136,129 		JBrowse link
G MIR3677 microRNA 3677 IAGP ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr16:2,270,713...2,270,772
Ensembl chr16:2,270,713...2,270,772 		JBrowse link
G MIR3677HG MIR3677 and MIR940 host gene IAGP ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr16:2,268,663...2,273,072
Ensembl chr16:2,267,881...2,273,428 		JBrowse link
G MIR4516 microRNA 4516 IAGP ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr16:2,133,119...2,133,204
Ensembl chr16:2,133,119...2,133,204 		JBrowse link
G MIR4717 microRNA 4717 IAGP ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr16:2,274,620...2,274,691
Ensembl chr16:2,274,620...2,274,691 		JBrowse link
G MIR6511B1 microRNA 6511b-1 IAGP ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr16:2,106,669...2,106,753
Ensembl chr16:2,106,669...2,106,753 		JBrowse link
G MIR940 microRNA 940 IAGP ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr16:2,271,747...2,271,840
Ensembl chr16:2,271,747...2,271,840 		JBrowse link
G MLH1 mutL homolog 1 IAGP ClinVar Annotator: match by term: Endometrial carcinoma ClinVar
HPO		 PMID:1756143 PMID:7728749 PMID:8566964 PMID:8571956 PMID:8574961 More... ORPHA:144 NCBI chr 3:36,993,466...37,050,846
Ensembl chr 3:36,993,226...37,050,896 		JBrowse link
G MLH3 mutL homolog 3 IAGP ClinVar Annotator: match by term: Endometrial carcinoma ClinVar
HPO		 PMID:12702580 PMID:17656264 PMID:22290698 PMID:25741868 PMID:28492532 More... MIM:608089 NCBI chr14:75,013,775...75,051,467
Ensembl chr14:75,013,769...75,051,532 		JBrowse link
G MLST8 MTOR associated protein, LST8 homolog IAGP ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr16:2,205,454...2,209,453
Ensembl chr16:2,204,248...2,209,453 		JBrowse link
G MSH2 mutS homolog 2 IAGP ClinVar Annotator: match by term: Endometrial carcinoma ClinVar
HPO		 PMID:1586275 PMID:7585065 PMID:8640829 PMID:9222765 PMID:9536098 More... ORPHA:144 NCBI chr 2:47,403,067...47,709,830
Ensembl chr 2:47,403,067...47,663,146 		JBrowse link
G MSH3 mutS homolog 3 IAGP ClinVar Annotator: match by term: Endometrial carcinoma ClinVar
HPO		 PMID:2635641 PMID:8782829 PMID:9536098 PMID:16199547 PMID:17576681 More... MIM:608089 NCBI chr 5:80,654,652...80,876,815
Ensembl chr 5:80,654,652...80,876,815 		JBrowse link
G MSH6 mutS homolog 6 IAGP ClinVar Annotator: match by term: Endometrial carcinoma ClinVar
HPO		 PMID:183784 PMID:183865 PMID:216699 PMID:503524 PMID:580154 More... MIM:608089 MIM:614350 ORPHA:144 NCBI chr 2:47,783,145...47,810,101
Ensembl chr 2:47,695,530...47,810,063 		JBrowse link
G MUTYH mutY DNA glycosylase IAGP ClinVar Annotator: match by term: Endometrial carcinoma ClinVar PMID:11818965 PMID:12606733 PMID:15987719 PMID:16140997 PMID:16338133 More... NCBI chr 1:45,329,242...45,340,440
Ensembl chr 1:45,329,163...45,340,893 		JBrowse link
G NTHL1 nth like DNA glycosylase 1 IAGP HPO MIM:616415 ORPHA:454840 NCBI chr16:2,039,820...2,047,834
Ensembl chr16:2,039,815...2,047,866 		JBrowse link
G PALB2 partner and localizer of BRCA2 IAGP ClinVar Annotator: match by term: Endometrial carcinoma ClinVar PMID:17200668 PMID:20091115 PMID:21285249 PMID:21365267 PMID:22241545 More... NCBI chr16:23,603,165...23,641,310
Ensembl chr16:23,603,160...23,641,321 		JBrowse link
G PGP phosphoglycolate phosphatase IAGP ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr16:2,211,593...2,214,840
Ensembl chr16:2,211,593...2,214,840 		JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha IAGP ClinVar Annotator: match by term: Endometrial carcinoma ClinVar
HPO		 ORPHA:144 ORPHA:201 NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093 		JBrowse link
G PKD1 polycystin 1, transient receptor potential channel interacting IAGP ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr16:2,088,708...2,135,898
Ensembl chr16:2,088,708...2,135,898 		JBrowse link
G PKD1-AS1 PKD1 antisense RNA 1 IAGP ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr16:2,091,436...2,095,017
Ensembl chr16:2,091,436...2,095,433 		JBrowse link
G PMS1 PMS1 homolog 1, mismatch repair system component IAGP HPO ORPHA:144 NCBI chr 2:189,784,450...189,877,629
Ensembl chr 2:189,784,085...189,877,629 		JBrowse link
G PMS2 PMS1 homolog 2, mismatch repair system component IAGP ClinVar Annotator: match by term: Endometrial carcinoma ClinVar
HPO		 PMID:7628019 PMID:7704024 PMID:8072530 PMID:8993976 PMID:9683794 More... MIM:614337 ORPHA:144 NCBI chr 7:5,970,925...6,009,106
Ensembl chr 7:5,970,925...6,009,130 		JBrowse link
G POLD1 DNA polymerase delta 1, catalytic subunit IAGP ClinVar Annotator: match by term: Endometrial carcinoma ClinVar
HPO		 PMID:12376507 PMID:17145065 PMID:25741868 PMID:26467025 PMID:28492532 MIM:612591 ORPHA:447877 NCBI chr19:50,384,323...50,418,018
Ensembl chr19:50,384,204...50,418,018 		JBrowse link
G POLE DNA polymerase epsilon, catalytic subunit ameliorates IAGP ClinVar Annotator: match by term: Endometrial carcinoma
DNA:mutations:multiple
DNA:mutations:multiple 		ClinVar
HPO
RGD		 PMID:25741868 PMID:26467025 PMID:27217144 PMID:28492532 PMID:23528559 More... ORPHA:447877, RGD:151347856, RGD:151347648 NCBI chr12:132,623,762...132,687,342
Ensembl chr12:132,623,753...132,687,376 		JBrowse link
G PTEN phosphatase and tensin homolog IAGP ClinVar Annotator: match by term: Endometrial carcinoma ClinVar
HPO		 PMID:1945792 PMID:7728760 PMID:8980400 PMID:9259288 PMID:9326929 More... ORPHA:201 NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930 		JBrowse link
G RAB26 RAB26, member RAS oncogene family IAGP ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr16:2,148,144...2,154,165
Ensembl chr16:2,140,803...2,154,165 		JBrowse link
G RAD51C RAD51 paralog C IAGP ClinVar Annotator: match by term: Endometrial carcinoma ClinVar PMID:20400964 PMID:21990120 PMID:24800917 PMID:25741868 PMID:26681312 More... NCBI chr17:58,692,573...58,735,611
Ensembl chr17:58,692,573...58,735,611 		JBrowse link
G RNPS1 RNA binding protein with serine rich domain 1 IAGP ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr16:2,253,116...2,268,126
Ensembl chr16:2,253,116...2,268,397 		JBrowse link
G SDHB succinate dehydrogenase complex iron sulfur subunit B IAGP HPO ORPHA:201 NCBI chr 1:17,018,722...17,054,032
Ensembl chr 1:17,018,664...17,054,151 		JBrowse link
G SDHC succinate dehydrogenase complex subunit C IAGP HPO ORPHA:201 NCBI chr 1:161,314,381...161,363,206
Ensembl chr 1:161,314,381...161,363,206 		JBrowse link
G SDHD succinate dehydrogenase complex subunit D IAGP HPO ORPHA:201 NCBI chr11:112,086,873...112,095,794
Ensembl chr11:112,086,824...112,120,016 		JBrowse link
G SEC23B SEC23 homolog B, COPII coat complex component IAGP HPO ORPHA:201 NCBI chr20:18,507,548...18,561,415
Ensembl chr20:18,507,520...18,561,415 		JBrowse link
G SLC6A17 solute carrier family 6 member 17 IAGP HPO ORPHA:457212 NCBI chr 1:110,150,494...110,202,202
Ensembl chr 1:110,150,494...110,202,202 		JBrowse link
G SNHG19 small nucleolar RNA host gene 19 IAGP ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr16:2,154,782...2,155,358
Ensembl chr16:2,151,103...2,155,672 		JBrowse link
G SNORD60 small nucleolar RNA, C/D box 60 IAGP ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr16:2,155,023...2,155,105
Ensembl chr16:2,155,023...2,155,105 		JBrowse link
G STK11 serine/threonine kinase 11 IAGP ClinVar Annotator: match by term: Endometrial carcinoma ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr19:1,205,778...1,228,431
Ensembl chr19:1,177,558...1,228,431 		JBrowse link
G TACC3 transforming acidic coiled-coil containing protein 3 IAGP ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr 4:1,721,521...1,745,171
Ensembl chr 4:1,712,858...1,745,171 		JBrowse link
G TGFBR2 transforming growth factor beta receptor 2 IAGP HPO ORPHA:144 NCBI chr 3:30,606,356...30,694,142
Ensembl chr 3:30,606,478...30,694,249 		JBrowse link
G TP53 tumor protein p53 IAGP ClinVar Annotator: match by term: Endometrial carcinoma ClinVar PMID:25741868 PMID:28492532 NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,546 		JBrowse link
G TRAF7 TNF receptor associated factor 7 IAGP ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr16:2,155,782...2,178,129
Ensembl chr16:2,155,698...2,178,129 		JBrowse link
G TSC2 TSC complex subunit 2 IAGP ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr16:2,047,985...2,089,491
Ensembl chr16:2,047,967...2,089,491 		JBrowse link
G USF3 upstream transcription factor family member 3 IAGP HPO ORPHA:201 NCBI chr 3:113,648,385...113,696,642
Ensembl chr 3:113,648,385...113,696,646 		JBrowse link
Endometriosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HPS6 HPS6 biogenesis of lysosomal organelles complex 2 subunit 3 IAGP HPO MIM:614075 NCBI chr10:102,065,349...102,068,036
Ensembl chr10:102,065,349...102,068,036 		JBrowse link
G IL1B interleukin 1 beta IAGP ClinVar Annotator: match by term: Endometriosis ClinVar PMID:18550579 NCBI chr 2:112,829,751...112,836,779
Ensembl chr 2:112,829,751...112,836,816 		JBrowse link
G IL1F10 interleukin 1 family member 10 IAGP ClinVar Annotator: match by term: Endometriosis ClinVar NCBI chr 2:113,067,970...113,075,843
Ensembl chr 2:113,067,970...113,075,843 		JBrowse link
G IL1RN interleukin 1 receptor antagonist IAGP ClinVar Annotator: match by term: Endometriosis ClinVar NCBI chr 2:113,099,360...113,134,014
Ensembl chr 2:113,099,315...113,134,016 		JBrowse link
G IL36A interleukin 36 alpha IAGP ClinVar Annotator: match by term: Endometriosis ClinVar NCBI chr 2:113,005,459...113,011,072
Ensembl chr 2:113,005,459...113,008,044 		JBrowse link
G IL36B interleukin 36 beta IAGP ClinVar Annotator: match by term: Endometriosis ClinVar NCBI chr 2:113,022,089...113,052,867
Ensembl chr 2:113,022,089...113,052,867 		JBrowse link
G IL36G interleukin 36 gamma IAGP ClinVar Annotator: match by term: Endometriosis ClinVar NCBI chr 2:112,978,006...112,985,658
Ensembl chr 2:112,973,203...112,985,658 		JBrowse link
G IL36RN interleukin 36 receptor antagonist IAGP ClinVar Annotator: match by term: Endometriosis ClinVar NCBI chr 2:113,058,638...113,064,744
Ensembl chr 2:113,058,638...113,065,382 		JBrowse link
G LOC112806039 Sharpr-MPRA regulatory region 10370 IAGP ClinVar Annotator: match by term: Endometriosis ClinVar NCBI chr 2:113,088,592...113,088,886 JBrowse link
G LOC122817730 Sharpr-MPRA regulatory region 4990 IAGP ClinVar Annotator: match by term: Endometriosis ClinVar NCBI chr 2:113,034,092...113,034,386 JBrowse link
G LOC126806315 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:113835447-113836646 IAGP ClinVar Annotator: match by term: Endometriosis ClinVar NCBI chr 2:113,077,870...113,079,069 JBrowse link
G LOC129934600 ATAC-STARR-seq lymphoblastoid silent region 11877 IAGP ClinVar Annotator: match by term: Endometriosis ClinVar NCBI chr 2:112,959,055...112,959,104 JBrowse link
G LOC129934601 ATAC-STARR-seq lymphoblastoid active region 16409 IAGP ClinVar Annotator: match by term: Endometriosis ClinVar NCBI chr 2:112,996,817...112,996,976 JBrowse link
G LOC129934602 ATAC-STARR-seq lymphoblastoid active region 16410 IAGP ClinVar Annotator: match by term: Endometriosis ClinVar NCBI chr 2:113,098,095...113,098,234 JBrowse link
G LOC129934603 ATAC-STARR-seq lymphoblastoid active region 16411 IAGP ClinVar Annotator: match by term: Endometriosis ClinVar NCBI chr 2:113,098,315...113,098,364 JBrowse link
G THOC6 THO complex subunit 6 IAGP HPO MIM:613680 ORPHA:363444 NCBI chr16:3,024,035...3,027,750
Ensembl chr16:3,024,027...3,027,755 		JBrowse link
G TNF tumor necrosis factor IAGP ClinVar Annotator: match by term: Endometriosis ClinVar PMID:8056188 PMID:9818939 PMID:10450718 PMID:11261930 PMID:11506397 More... NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336 		JBrowse link
Enlarged ovaries term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G INSR insulin receptor IAGP HPO ORPHA:508 ORPHA:769 NCBI chr19:7,112,265...7,294,414
Ensembl chr19:7,112,255...7,294,414 		JBrowse link
G MID1 midline 1 IAGP HPO ORPHA:2745 NCBI chr  X:10,445,310...10,833,683
Ensembl chr  X:10,445,310...10,833,654 		JBrowse link
Enlarged polycystic ovaries term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKT1 AKT serine/threonine kinase 1 IAGP HPO ORPHA:201 ORPHA:744 NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,759 		JBrowse link
G CYB5A cytochrome b5 type A IAGP HPO ORPHA:90796 NCBI chr18:74,250,846...74,291,963
Ensembl chr18:74,250,846...74,291,973 		JBrowse link
G CYP17A1 cytochrome P450 family 17 subfamily A member 1 IAGP HPO ORPHA:90796 NCBI chr10:102,830,531...102,837,413
Ensembl chr10:102,830,531...102,837,472 		JBrowse link
G CYP19A1 cytochrome P450 family 19 subfamily A member 1 IAGP HPO ORPHA:91 NCBI chr15:51,208,057...51,338,596
Ensembl chr15:51,208,057...51,338,601 		JBrowse link
G ESR1 estrogen receptor 1 IAGP HPO ORPHA:785 NCBI chr 6:151,656,672...152,129,619
Ensembl chr 6:151,656,691...152,129,619 		JBrowse link
G FSHR follicle stimulating hormone receptor IAGP HPO ORPHA:64739 NCBI chr 2:48,962,157...49,154,515
Ensembl chr 2:48,962,157...49,154,527 		JBrowse link
G KLLN killin, p53 regulated DNA replication inhibitor IAGP HPO ORPHA:201 NCBI chr10:87,859,158...87,863,533
Ensembl chr10:87,859,158...87,863,533 		JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha IAGP HPO ORPHA:201 NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093 		JBrowse link
G POR cytochrome p450 oxidoreductase IAGP HPO ORPHA:95699 NCBI chr 7:75,915,155...75,986,855
Ensembl chr 7:75,899,200...75,986,855 		JBrowse link
G PTEN phosphatase and tensin homolog IAGP HPO ORPHA:201 NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930 		JBrowse link
G SDHB succinate dehydrogenase complex iron sulfur subunit B IAGP HPO ORPHA:201 NCBI chr 1:17,018,722...17,054,032
Ensembl chr 1:17,018,664...17,054,151 		JBrowse link
G SDHC succinate dehydrogenase complex subunit C IAGP HPO ORPHA:201 NCBI chr 1:161,314,381...161,363,206
Ensembl chr 1:161,314,381...161,363,206 		JBrowse link
G SDHD succinate dehydrogenase complex subunit D IAGP HPO ORPHA:201 NCBI chr11:112,086,873...112,095,794
Ensembl chr11:112,086,824...112,120,016 		JBrowse link
G SEC23B SEC23 homolog B, COPII coat complex component IAGP HPO ORPHA:201 NCBI chr20:18,507,548...18,561,415
Ensembl chr20:18,507,520...18,561,415 		JBrowse link
G STK11 serine/threonine kinase 11 IAGP HPO ORPHA:2869 NCBI chr19:1,205,778...1,228,431
Ensembl chr19:1,177,558...1,228,431 		JBrowse link
G USF3 upstream transcription factor family member 3 IAGP HPO ORPHA:201 NCBI chr 3:113,648,385...113,696,642
Ensembl chr 3:113,648,385...113,696,646 		JBrowse link
Epididymal cyst term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCND1 cyclin D1 IAGP HPO MIM:193300 ORPHA:892 NCBI chr11:69,641,156...69,654,474
Ensembl chr11:69,641,156...69,654,474 		JBrowse link
G HNF1B HNF1 homeobox B IAGP HPO MIM:137920 NCBI chr17:37,686,431...37,745,059
Ensembl chr17:37,686,431...37,745,059 		JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha IAGP HPO ORPHA:314662 NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093 		JBrowse link
G SRCAP Snf2 related CREBBP activator protein IAGP HPO MIM:136140 ORPHA:2044 NCBI chr16:30,699,171...30,741,409
Ensembl chr16:30,698,209...30,741,409 		JBrowse link
G VHL von Hippel-Lindau tumor suppressor IAGP HPO MIM:193300 ORPHA:892 NCBI chr 3:10,141,778...10,153,667
Ensembl chr 3:10,141,778...10,153,676 		JBrowse link
Epididymitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BTK Bruton tyrosine kinase IAGP HPO MIM:300755 MIM:307200 NCBI chr  X:101,349,450...101,390,796
Ensembl chr  X:101,349,338...101,390,796 		JBrowse link
G C4A complement C4A (Chido/Rodgers blood group) IAGP HPO ORPHA:117 NCBI chr 6:31,982,057...32,002,681
Ensembl chr 6:31,982,057...32,002,681 		JBrowse link
G CCR1 C-C motif chemokine receptor 1 IAGP HPO ORPHA:117 NCBI chr 3:46,201,711...46,208,313
Ensembl chr 3:46,201,711...46,208,313 		JBrowse link
G ERAP1 endoplasmic reticulum aminopeptidase 1 IAGP HPO ORPHA:117 NCBI chr 5:96,760,813...96,935,854
Ensembl chr 5:96,760,810...96,808,100 		JBrowse link
G FAS Fas cell surface death receptor IAGP HPO ORPHA:117 NCBI chr10:88,964,050...89,017,059
Ensembl chr10:88,953,813...89,029,605 		JBrowse link
G HLA-B major histocompatibility complex, class I, B IAGP HPO ORPHA:117 NCBI chr 6:31,353,875...31,357,179
Ensembl chr 6:31,353,872...31,367,067 		JBrowse link
G IFNGR1 interferon gamma receptor 1 IAGP HPO ORPHA:117 NCBI chr 6:137,197,484...137,219,385
Ensembl chr 6:137,197,483...137,219,449 		JBrowse link
G IGHG2 immunoglobulin heavy constant gamma 2 (G2m marker) IAGP HPO ORPHA:183675 NCBI chr14:105,643,203...105,644,789
Ensembl chr14:105,639,559...105,644,790 		JBrowse link
G IGKC immunoglobulin kappa constant IAGP HPO ORPHA:183675 NCBI chr 2:88,857,361...88,857,683
Ensembl chr 2:88,857,161...88,857,683 		JBrowse link
G IL10 interleukin 10 IAGP HPO ORPHA:117 NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541 		JBrowse link
G IL12A interleukin 12A IAGP HPO ORPHA:117 NCBI chr 3:159,988,835...159,996,019
Ensembl chr 3:159,988,835...159,996,019 		JBrowse link
G IL12A-AS1 IL12A antisense RNA 1 IAGP HPO ORPHA:117 NCBI chr 3:159,913,400...160,207,092
Ensembl chr 3:159,902,045...160,226,966 		JBrowse link
G IL23R interleukin 23 receptor IAGP HPO ORPHA:117 NCBI chr 1:67,138,637...67,265,903
Ensembl chr 1:67,138,907...67,259,979 		JBrowse link
G KLRC4 killer cell lectin like receptor C4 IAGP HPO ORPHA:117 NCBI chr12:10,407,384...10,409,757
Ensembl chr12:10,403,059...10,409,757 		JBrowse link
G LYN LYN proto-oncogene, Src family tyrosine kinase IAGP HPO MIM:620376 NCBI chr 8:55,879,835...56,014,169
Ensembl chr 8:55,879,835...56,014,169 		JBrowse link
G MEFV MEFV innate immunity regulator, pyrin IAGP HPO ORPHA:117 NCBI chr16:3,242,027...3,256,633
Ensembl chr16:3,242,027...3,256,633 		JBrowse link
G PSMB8 proteasome 20S subunit beta 8 IAGP HPO MIM:256040 NCBI chr 6:32,840,717...32,844,679
Ensembl chr 6:32,840,717...32,844,679 		JBrowse link
G STAT4 signal transducer and activator of transcription 4 IAGP HPO ORPHA:117 NCBI chr 2:191,029,576...191,151,596
Ensembl chr 2:191,029,576...191,178,435 		JBrowse link
G TLR4 toll like receptor 4 IAGP HPO ORPHA:117 NCBI chr 9:117,704,403...117,724,735
Ensembl chr 9:117,704,175...117,724,735 		JBrowse link
G UBAC2 UBA domain containing 2 IAGP HPO ORPHA:117 NCBI chr13:99,200,854...99,386,504
Ensembl chr13:99,200,774...99,386,504