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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:Female Urogenital Diseases
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Accession:DOID:9002739 term browser browse the term
Definition:Pathological processes of the female URINARY TRACT and the reproductive system (GENITALIA, FEMALE).
Synonyms:exact_synonym: Female Genitourinary Disease;   Female Genitourinary Diseases;   Female Urogenital Disease
 primary_id: MESH:D052776;   RDO:0005654
For additional species annotation, visit the Alliance of Genome Resources.


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Female Urogenital Diseases term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amh anti-Mullerian hormone ISO CTD Direct Evidence: marker/mechanism CTD PMID:16002989 NCBI chrNW_004955495:5,893,375...5,896,152
Ensembl chrNW_004955495:5,893,446...5,895,912
JBrowse link
G Amhr2 anti-Mullerian hormone receptor type 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16002989 NCBI chrNW_004955458:693,434...703,026
Ensembl chrNW_004955458:694,055...702,778
JBrowse link
G Bmpr1a bone morphogenetic protein receptor type 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:16002989 NCBI chrNW_004955510:5,812,571...5,936,312
Ensembl chrNW_004955510:5,905,008...5,936,312
JBrowse link
G Emx2 empty spiracles homeobox 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16002989 NCBI chrNW_004955431:22,192,446...22,199,141
Ensembl chrNW_004955431:22,192,446...22,199,279
JBrowse link
G Esr1 estrogen receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16002989 NCBI chrNW_004955439:9,588,631...9,953,606
Ensembl chrNW_004955439:9,588,201...9,963,353
JBrowse link
G Hoxa10 homeobox A10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16002989 NCBI chrNW_004955410:28,864,785...28,874,454
Ensembl chrNW_004955410:28,864,785...28,874,454
JBrowse link
G Hoxa11 homeobox A11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16002989 NCBI chrNW_004955410:28,875,780...28,879,643
Ensembl chrNW_004955410:28,877,055...28,879,465
JBrowse link
G Hoxa13 homeobox A13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16002989 NCBI chrNW_004955410:28,887,952...28,893,515
Ensembl chrNW_004955410:28,890,171...28,893,515
JBrowse link
G Igf1 insulin like growth factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16002989 NCBI chrNW_004955405:37,505,830...37,582,152
Ensembl chrNW_004955405:37,512,201...37,582,152
JBrowse link
G Lhx1 LIM homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16002989 NCBI chrNW_004955451:1,037,936...1,048,501
Ensembl chrNW_004955451:1,037,825...1,048,501
JBrowse link
G Lif LIF interleukin 6 family cytokine ISO CTD Direct Evidence: marker/mechanism CTD PMID:16002989 NCBI chrNW_004955455:4,489,515...4,505,439
Ensembl chrNW_004955455:4,489,421...4,497,940
JBrowse link
G Msx2 msh homeobox 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16513791 NCBI chrNW_004955408:27,323,405...27,329,484
Ensembl chrNW_004955408:27,323,360...27,329,755
JBrowse link
G Pax2 paired box 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16002989 NCBI chrNW_004955485:9,351,913...9,430,607
Ensembl chrNW_004955485:9,350,087...9,430,607
JBrowse link
G Timp1 TIMP metallopeptidase inhibitor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16002989 NCBI chrNW_004955516:507,113...511,360
Ensembl chrNW_004955516:505,789...512,118
JBrowse link
G Tp63 tumor protein p63 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16002989 NCBI chrNW_004955420:18,178,639...18,384,786
Ensembl chrNW_004955420:18,176,155...18,384,786
JBrowse link
G Wnt4 Wnt family member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16002989 NCBI chrNW_004955452:2,319,446...2,344,740
Ensembl chrNW_004955452:2,319,446...2,344,989
JBrowse link
G Wnt5a Wnt family member 5A ISO CTD Direct Evidence: marker/mechanism CTD PMID:16002989 NCBI chrNW_004955430:5,304,817...5,325,684
Ensembl chrNW_004955430:5,304,745...5,325,684
JBrowse link
G Wnt7a Wnt family member 7A ISO CTD Direct Evidence: marker/mechanism CTD PMID:16002989 NCBI chrNW_004955429:12,647,993...12,693,998
Ensembl chrNW_004955429:12,647,993...12,694,895
JBrowse link
acquired immunodeficiency syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb1 ATP binding cassette subfamily B member 1 treatment ISO DNA:haplotype: :3435T>C((rs1045642), 2677T>G (rs2032582) (human)
DNA:SNP: : rs10276036(human)
RGD PMID:23372834 PMID:24517233 RGD:11098698 RGD:39456119 NCBI chrNW_004955432:4,911,774...5,085,349 JBrowse link
G Cd40lg CD40 ligand treatment ISO RGD PMID:9499800 RGD:11344976 NCBI chrNW_004955489:8,465,571...8,477,714
Ensembl chrNW_004955489:8,465,164...8,477,746
JBrowse link
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit susceptibility ISO DNA:polymorphism:exon:p.K751Q(human) RGD PMID:20127180 RGD:5688740 NCBI chrNW_004955555:2,355,005...2,369,599
Ensembl chrNW_004955555:2,355,005...2,369,599
JBrowse link
G Ido1 indoleamine 2,3-dioxygenase 1 ISO associated with pulmonary tuberculosis;protein:increased expression:blood (human) RGD PMID:32369456 RGD:39939073 NCBI chrNW_004955536:2,944,770...2,955,829
Ensembl chrNW_004955536:2,943,611...2,955,829
JBrowse link
G Ifng interferon gamma ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Acquired immunodeficiency syndrome, rapid progression to
CTD
ClinVar
PMID:9612607 PMID:12854077 NCBI chrNW_004955458:14,643,333...14,648,020
Ensembl chrNW_004955458:14,643,313...14,648,045
JBrowse link
G Igf2 insulin like growth factor 2 ISO protein:decreased expression:plasma RGD PMID:11232005 RGD:5509969 NCBI chrNW_004955422:13,880,525...13,907,963
Ensembl chrNW_004955422:13,880,471...13,888,566
JBrowse link
G Il2 interleukin 2 ISO CTD Direct Evidence: therapeutic CTD PMID:9861562 NCBI chrNW_004955428:18,163,010...18,168,157
Ensembl chrNW_004955428:18,162,467...18,168,265
JBrowse link
G Il4r interleukin 4 receptor ISO ClinVar Annotator: match by term: Acquired immunodeficiency syndrome, slow progression to ClinVar PMID:2278997 PMID:2307934 PMID:9620765 PMID:15712015 PMID:16189667 NCBI chrNW_004955493:5,546,340...5,580,745
Ensembl chrNW_004955493:5,545,944...5,582,422
JBrowse link
G Ncr3 natural cytotoxicity triggering receptor 3 ISO protein:decreased expression:peripheral blood mononuclear cell,natural killer cell (human) RGD PMID:27382604 RGD:40818276 NCBI chrNW_004955437:130,360...134,751 JBrowse link
G Tnf tumor necrosis factor ISO RGD PMID:8548330 RGD:12904035 NCBI chrNW_004955437:117,267...119,899
Ensembl chrNW_004955437:117,206...120,700
JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A ISO RGD PMID:8548330 RGD:12904035 NCBI chrNW_004955413:3,982,670...3,996,320
Ensembl chrNW_004955413:3,981,400...3,996,021
JBrowse link
G Tnfrsf1b TNF receptor superfamily member 1B ISO RGD PMID:8548330 RGD:12904035 NCBI chrNW_004955486:1,790,531...1,817,986
Ensembl chrNW_004955486:1,792,115...1,818,362
JBrowse link
Acromesomelic Dysplasia, Demirhan Type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmpr1b bone morphogenetic protein receptor type 1B ISO OMIM NCBI chrNW_004955405:5,408,171...5,784,930
Ensembl chrNW_004955405:5,700,162...5,787,957
JBrowse link
adhesions of uterus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kdr kinase insert domain receptor severity
treatment
ISO mRNA, protein:increased expression:endometrium RGD PMID:31596310 RGD:126925216 NCBI chrNW_004955447:15,810,816...15,851,702
Ensembl chrNW_004955447:15,810,815...15,853,583
JBrowse link
G Vegfa vascular endothelial growth factor A ISO mRNA, protein:increased expression:endometrium RGD PMID:31596310 RGD:126925216 NCBI chrNW_004955437:9,527,445...9,541,908 JBrowse link
AIDS Dementia Complex term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adrb2 adrenoceptor beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27400929 NCBI chrNW_004955415:5,515,157...5,517,198
Ensembl chrNW_004955415:5,515,697...5,516,980
JBrowse link
G Epo erythropoietin treatment ISO RGD PMID:20818790 RGD:10395393 NCBI chrNW_004955573:203,875...206,078
Ensembl chrNW_004955573:203,441...206,355
JBrowse link
G Gc GC vitamin D binding protein ISO associated with HIV Infections;protein:increased expression:cerebrospinal fluid: RGD PMID:17929958 RGD:5509882 NCBI chrNW_004955447:1,361,698...1,400,633
Ensembl chrNW_004955447:1,361,566...1,402,491
JBrowse link
G Il1b interleukin 1 beta ISO protein:increased expression:neocortex RGD PMID:17678975 RGD:1626641 NCBI chrNW_004955470:1,486,936...1,491,888
Ensembl chrNW_004955470:1,486,967...1,491,947
JBrowse link
G Insr insulin receptor severity ISO protein:increased expression:cerebrospinal fluid, plasma RGD PMID:22629383 RGD:10403033 NCBI chrNW_004955563:1,867,400...2,011,845
Ensembl chrNW_004955563:1,867,400...2,009,149
JBrowse link
G Irs1 insulin receptor substrate 1 severity ISO protein:decreased tyrosine phosphorylation:cerebrospinal fluid, leukocyte RGD PMID:22629383 RGD:10403033 NCBI chrNW_004955453:7,685,715...7,742,262
Ensembl chrNW_004955453:7,685,715...7,742,262
JBrowse link
G Nefl neurofilament light chain ISO associated with HIV Seropositivity;protein:increased expression:plasma, CSF (human)
protein:increased expression:CSF (human)
RGD PMID:27400930 PMID:30105502 RGD:127284876 RGD:127284885 NCBI chrNW_004955403:47,946,413...47,951,734
Ensembl chrNW_004955403:47,946,353...47,952,026
JBrowse link
G Npy neuropeptide Y severity ISO protein:increased expression:cerebrospinal fluid RGD PMID:8815163 RGD:10431910 NCBI chrNW_004955410:26,348,388...26,355,232
Ensembl chrNW_004955410:26,348,504...26,355,297
JBrowse link
G Oprm1 opioid receptor mu 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27400929 NCBI chrNW_004955439:7,870,563...7,923,817
Ensembl chrNW_004955439:7,757,569...7,923,817
JBrowse link
G Pdgfb platelet derived growth factor subunit B ISO RGD PMID:21368226 RGD:6482787 NCBI chrNW_004955413:25,150,702...25,166,987
Ensembl chrNW_004955413:25,148,062...25,166,987
JBrowse link
G Slc6a4 solute carrier family 6 member 4 ISO RGD PMID:25404050 RGD:38676266 NCBI chrNW_004955481:3,088,440...3,122,421
Ensembl chrNW_004955481:3,088,416...3,125,711
JBrowse link
AIDS-Associated Nephropathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agtr2 angiotensin II receptor type 2 ISO RGD PMID:2 RGD:1303381 NCBI chrNW_004955534:3,653,112...3,654,248
Ensembl chrNW_004955534:3,653,157...3,654,248
JBrowse link
G Egf epidermal growth factor ISO RGD PMID:19357719 RGD:6906909 NCBI chrNW_004955496:325,954...401,430
Ensembl chrNW_004955496:328,075...401,569
JBrowse link
G Mtor mechanistic target of rapamycin kinase ISO RGD PMID:23678040 RGD:7245474 NCBI chrNW_004955486:2,487,642...2,599,694
Ensembl chrNW_004955486:2,487,642...2,599,694
JBrowse link
G Myh9 myosin heavy chain 9 ISO protein:decreased expression:glomerulus RGD PMID:22313957 RGD:6903274 NCBI chrNW_004955413:22,881,759...22,972,182
Ensembl chrNW_004955413:22,881,045...22,972,450
JBrowse link
G Notch4 notch receptor 4 ISO protein: increased expression: kidney RGD PMID:20706108 RGD:6480788 NCBI chrNW_004955437:658,076...679,338 JBrowse link
G Nphs1 NPHS1 adhesion molecule, nephrin treatment ISO RGD PMID:17229913 PMID:19188342 RGD:38596324 RGD:38599164 NCBI chrNW_004955468:2,715,728...2,734,174
Ensembl chrNW_004955468:2,714,419...2,734,830
JBrowse link
AIDS-Related Kaposi Sarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bcl2 BCL2 apoptosis regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:10861090 NCBI chrNW_004955402:46,911,125...47,084,214
Ensembl chrNW_004955402:46,916,266...47,084,485
JBrowse link
AIDS-Related Opportunistic Infections term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd4 CD4 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:9546790 NCBI chrNW_004955413:4,400,326...4,422,110
Ensembl chrNW_004955413:4,408,390...4,421,535
JBrowse link
G Tnfrsf8 TNF receptor superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9379333 NCBI chrNW_004955486:1,839,642...1,910,080 JBrowse link
amenorrhea term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abhd2 abhydrolase domain containing 2, acylglycerol lipase ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004955416:15,878,972...15,983,322
Ensembl chrNW_004955416:15,884,624...15,983,322
JBrowse link
G Adamtsl3 ADAMTS like 3 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004955416:12,818,153...13,132,960
Ensembl chrNW_004955416:12,820,138...13,131,826
JBrowse link
G Adarb2 adenosine deaminase RNA specific B2 (inactive) ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004955421:29,705,289...30,028,013
Ensembl chrNW_004955421:29,830,905...30,022,685
JBrowse link
G Ahctf1 AT-hook containing transcription factor 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004955406:9,687,237...9,754,426
Ensembl chrNW_004955406:9,688,749...9,744,998
JBrowse link
G Amelx amelogenin X-linked ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004955544:1,974,889...1,979,063
Ensembl chrNW_004955544:1,969,216...1,979,063
JBrowse link
G Amfr autocrine motility factor receptor ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004955433:14,172,871...14,205,484
Ensembl chrNW_004955433:14,172,808...14,212,110
JBrowse link
G Ankrd24 ankyrin repeat domain 24 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004955495:4,621,059...4,636,235 JBrowse link
G Ap3b2 adaptor related protein complex 3 subunit beta 2 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004955416:13,927,655...13,956,589
Ensembl chrNW_004955416:13,927,545...13,957,207
JBrowse link
G Apba3 amyloid beta precursor protein binding family A member 3 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004955495:5,647,274...5,654,634
Ensembl chrNW_004955495:5,647,356...5,653,360
JBrowse link
G Apc APC regulator of WNT signaling pathway ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004955418:2,567,804...2,675,062
Ensembl chrNW_004955418:2,566,975...2,674,832
JBrowse link
G Arhgap6 Rho GTPase activating protein 6 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004955544:1,619,742...2,095,314
Ensembl chrNW_004955544:1,620,838...2,095,220
JBrowse link
G Arsa arylsulfatase A ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004955413:33,624,460...33,629,491
Ensembl chrNW_004955413:33,623,525...33,629,771
JBrowse link
G Asmtl acetylserotonin O-methyltransferase like ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004955499:1,033,926...1,047,018 JBrowse link
G Atcay ATCAY kinesin light chain interacting caytaxin ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004955495:5,715,943...5,741,202
Ensembl chrNW_004955495:5,715,850...5,741,202
JBrowse link
G Atp10b ATPase phospholipid transporting 10B (putative) ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004955408:14,495,165...14,815,648
Ensembl chrNW_004955408:14,492,752...14,595,122
JBrowse link
G Aven apoptosis and caspase activation inhibitor ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004955416:690,440...712,391 JBrowse link
G Bcap29 B cell receptor associated protein 29 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004955410:11,934,158...11,988,479
Ensembl chrNW_004955410:11,934,129...11,988,458
JBrowse link
G Bmp15 bone morphogenetic protein 15 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004955543:2,304,112...2,345,376 JBrowse link
G Bmp4 bone morphogenetic protein 4 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004955409:9,432,835...9,439,680
Ensembl chrNW_004955409:9,432,841...9,440,303
JBrowse link
G Bnc1 basonuclin 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004955416:13,428,760...13,440,837
Ensembl chrNW_004955416:13,428,760...13,440,921
JBrowse link
G Btbd1 BTB domain containing 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004955416:13,621,343...13,657,276
Ensembl chrNW_004955416:13,621,118...13,657,581
JBrowse link
G Capza1 capping actin protein of muscle Z-line subunit alpha 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004955435:16,048,213...16,087,814
Ensembl chrNW_004955435:16,048,213...16,087,814
JBrowse link
G Ccdc148 coiled-coil domain containing 148 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004955449:15,154,366...15,271,924 JBrowse link
G Ccser1 coiled-coil serine rich protein 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004955405:1,355,816...2,463,529
Ensembl chrNW_004955405:1,418,827...1,930,532
JBrowse link
G Cdk13 cyclin dependent kinase 13 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004955460:3,590,854...3,701,148 JBrowse link
G Chaf1a chromatin assembly factor 1 subunit A ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004955495:4,467,317...4,499,419
Ensembl chrNW_004955495:4,468,202...4,499,171
JBrowse link
G Cntln centlein ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004955434:19,811,100...20,118,185 JBrowse link
G Cpb2 carboxypeptidase B2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16167916 NCBI chrNW_004955518:3,740,348...3,803,540
Ensembl chrNW_004955518:3,740,348...3,803,539
JBrowse link
G Cpeb1 cytoplasmic polyadenylation element binding protein 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004955416:13,963,300...14,038,691
Ensembl chrNW_004955416:13,981,657...14,039,705
JBrowse link
G Creb3l3 cAMP responsive element binding protein 3 like 3 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004955495:4,651,086...4,670,852
Ensembl chrNW_004955495:4,651,369...4,661,139
JBrowse link
G CUNH15orf40 chromosome unknown C15orf40 homolog ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004955416:13,669,931...13,681,991
Ensembl chrNW_004955416:13,670,036...13,674,912
JBrowse link
G Dapk3 death associated protein kinase 3 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004955495:4,809,475...4,822,210
Ensembl chrNW_004955495:4,810,474...4,823,259
JBrowse link
G Ddx1 DEAD-box helicase 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004955487:9,085,950...9,117,599
Ensembl chrNW_004955487:9,085,918...9,119,979
JBrowse link
G Dennd6a DENN domain containing 6A ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004955430:7,327,602...7,396,961
Ensembl chrNW_004955430:7,327,602...7,397,670
JBrowse link
G Diaph2 diaphanous related formin 2 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004955503:2,324,934...3,132,466
Ensembl chrNW_004955503:2,325,103...2,835,656
JBrowse link
G Dlc1 DLC1 Rho GTPase activating protein ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004955463:3,599,415...3,981,187
Ensembl chrNW_004955463:3,598,985...3,990,849
JBrowse link
G Dusp19 dual specificity phosphatase 19 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004955403:14,421,057...14,439,829
Ensembl chrNW_004955403:14,420,243...14,440,210
JBrowse link
G Dusp22 dual specificity phosphatase 22 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004955465:12,551,063...12,597,386
Ensembl chrNW_004955465:12,551,063...12,592,572
JBrowse link
G Ebi3 Epstein-Barr virus induced 3 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004955495:4,609,841...4,615,686 JBrowse link
G Eef2 eukaryotic translation elongation factor 2 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004955495:4,800,103...4,807,714
Ensembl chrNW_004955495:4,799,922...4,807,252
JBrowse link
G Eri1 exoribonuclease 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004955463:5,074,921...5,104,341
Ensembl chrNW_004955463:5,075,105...5,102,892
JBrowse link
G Fam120b family with sequence similarity 120B ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004955411:3,386,801...3,478,141
Ensembl chrNW_004955411:3,387,368...3,457,123
JBrowse link
G Fhit fragile histidine triad diadenosine triphosphatase ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004955430:221,518...508,094 JBrowse link
G Fsd1 fibronectin type III and SPRY domain containing 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004955495:4,549,067...4,561,223
Ensembl chrNW_004955495:4,549,220...4,561,073
JBrowse link
G Fsd2 fibronectin type III and SPRY domain containing 2 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004955416:13,864,050...13,898,693
Ensembl chrNW_004955416:13,852,756...13,896,841
JBrowse link
G Fshb follicle stimulating hormone subunit beta ISO CTD Direct Evidence: marker/mechanism
follicle-stimulating hormone deficiency,OMIM:229070;DNA:frameshift
CTD
RGD
PMID:8220432 RGD:1601221 NCBI chrNW_004955476:8,795,354...8,797,244
Ensembl chrNW_004955476:8,795,351...8,797,244
JBrowse link
G Fshr follicle stimulating hormone receptor ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:25741868 NCBI chrNW_004955441:15,422,190...15,585,446
Ensembl chrNW_004955441:15,422,190...15,585,537
JBrowse link
G Fzd6 frizzled class receptor 6 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004955417:27,465,730...27,493,752
Ensembl chrNW_004955417:27,465,701...27,494,790
JBrowse link
G Gabrb2 gamma-aminobutyric acid type A receptor beta2 subunit ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004955408:15,126,235...15,363,169
Ensembl chrNW_004955408:15,131,909...15,363,169
JBrowse link
G Gadl1 glutamate decarboxylase like 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004955430:22,029,481...22,187,807
Ensembl chrNW_004955430:22,029,450...22,188,133
JBrowse link
G Gpbp1l1 GC-rich promoter binding protein 1 like 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004955464:12,601,373...12,659,687
Ensembl chrNW_004955464:12,632,328...12,658,958
JBrowse link
G Gpr37l1 G protein-coupled receptor 37 like 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004955406:38,214,490...38,223,281
Ensembl chrNW_004955406:38,214,423...38,223,281
JBrowse link
G Gxylt1 glucoside xylosyltransferase 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004955500:1,479,159...1,511,385
Ensembl chrNW_004955500:1,479,159...1,511,731
JBrowse link
G Homer2 homer scaffold protein 2 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004955416:13,671,115...13,828,413
Ensembl chrNW_004955416:13,741,161...13,818,060
JBrowse link
G Ipp intracisternal A particle-promoted polypeptide ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004955464:12,562,824...12,589,976
Ensembl chrNW_004955464:12,562,756...12,589,939
JBrowse link
G Kbtbd12 kelch repeat and BTB domain containing 12 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004955429:15,698,544...15,760,071
Ensembl chrNW_004955429:15,698,881...15,760,645
JBrowse link
G LOC102011010 steroid 17-alpha-hydroxylase/17,20 lyase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18645707 NCBI chrNW_004955485:7,615,132...7,652,899
Ensembl chrNW_004955485:7,645,363...7,650,658
JBrowse link
G LOC102023780 aromatase ISO CTD Direct Evidence: marker/mechanism CTD PMID:8265607 NCBI chrNW_004955409:3,198,622...3,313,072
Ensembl chrNW_004955409:3,266,233...3,313,142
JBrowse link
G LOC102026028 cytochrome P450 2E1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004955507:6,293,162...6,303,255
Ensembl chrNW_004955507:6,289,576...6,304,193
JBrowse link
G Lrg1 leucine rich alpha-2-glycoprotein 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004955495:4,402,670...4,405,666
Ensembl chrNW_004955495:4,402,746...4,406,943
JBrowse link
G Lrig2 leucine rich repeats and immunoglobulin like domains 2 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004955435:16,468,300...16,522,503
Ensembl chrNW_004955435:16,468,509...16,521,868
JBrowse link
G Map2k2 mitogen-activated protein kinase kinase 2 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004955495:4,695,239...4,718,380 JBrowse link
G Mast2 microtubule associated serine/threonine kinase 2 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004955464:12,264,252...12,459,061
Ensembl chrNW_004955464:12,264,252...12,459,124
JBrowse link
G Matk megakaryocyte-associated tyrosine kinase ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004955495:5,663,768...5,670,113
Ensembl chrNW_004955495:5,663,768...5,669,654
JBrowse link
G Mgll monoglyceride lipase ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004955429:15,760,159...15,960,774
Ensembl chrNW_004955429:15,759,540...15,960,835
JBrowse link
G Mov10 Mov10 RISC complex RNA helicase ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004955435:16,093,471...16,114,735
Ensembl chrNW_004955435:16,092,790...16,117,206
JBrowse link
G Mpnd MPN domain containing ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004955495:4,531,895...4,538,030
Ensembl chrNW_004955495:4,531,895...4,538,030
JBrowse link
G Mrpl54 mitochondrial ribosomal protein L54 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004955495:5,655,510...5,659,103
Ensembl chrNW_004955495:5,655,560...5,657,699
JBrowse link
G Msl3 MSL complex subunit 3 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004955544:1,523,369...1,541,012
Ensembl chrNW_004955544:1,523,310...1,541,019
JBrowse link
G Mycn MYCN proto-oncogene, bHLH transcription factor ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004955487:9,219,528...9,224,818
Ensembl chrNW_004955487:9,219,528...9,224,818
JBrowse link
G Naip NLR family apoptosis inhibitory protein ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004955575:249,659...283,378 JBrowse link
G Nbas NBAS subunit of NRZ tethering complex ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004955487:8,894,403...9,073,535
Ensembl chrNW_004955487:8,894,187...9,073,663
JBrowse link
G Ncam2 neural cell adhesion molecule 2 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004955407:21,730,331...22,220,664
Ensembl chrNW_004955407:21,730,434...22,215,377
JBrowse link
G Nckap5 NCK associated protein 5 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004955440:266,389...1,159,224
Ensembl chrNW_004955440:267,717...1,023,489
JBrowse link
G Nkx2-6 NK2 homeobox 6 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004955403:46,831,758...46,836,358
Ensembl chrNW_004955403:46,831,696...46,836,333
JBrowse link
G Nkx3-1 NK3 homeobox 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004955403:46,807,846...46,809,924
Ensembl chrNW_004955403:46,806,178...46,836,310
JBrowse link
G Nmrk2 nicotinamide riboside kinase 2 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004955495:5,749,303...5,754,889
Ensembl chrNW_004955495:5,749,309...5,756,367
JBrowse link
G Nup35 nucleoporin 35 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004955403:14,381,591...14,415,394
Ensembl chrNW_004955403:14,379,962...14,412,956
JBrowse link
G Ocln occludin ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004955575:163,646...210,379 JBrowse link
G P2ry8 P2Y receptor family member 8 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004955499:1,062,233...1,064,588 JBrowse link
G Pcsk5 proprotein convertase subtilisin/kexin type 5 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004955512:2,914,834...3,333,440
Ensembl chrNW_004955512:2,917,243...3,333,688
JBrowse link
G Pias4 protein inhibitor of activated STAT 4 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004955495:4,760,576...4,791,422
Ensembl chrNW_004955495:4,761,862...4,791,490
JBrowse link
G Plin4 perilipin 4 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004955495:4,417,672...4,426,945 JBrowse link
G Plin5 perilipin 5 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004955495:4,406,590...4,414,783
Ensembl chrNW_004955495:4,407,246...4,416,848
JBrowse link
G Pnpla4 patatin like phospholipase domain containing 4 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004955499:5,875,706...5,925,809
Ensembl chrNW_004955499:5,892,761...5,924,736
JBrowse link
G Por P450 (cytochrome) oxidoreductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:14758361 NCBI chrNW_004955456:14,698,589...14,748,520
Ensembl chrNW_004955456:14,698,589...14,748,520
JBrowse link
G Ppm1j protein phosphatase, Mg2+/Mn2+ dependent 1J ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004955435:16,124,087...16,129,296
Ensembl chrNW_004955435:16,121,206...16,129,296
JBrowse link
G Prkaa1 protein kinase AMP-activated catalytic subunit alpha 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004955426:25,079,718...25,102,090
Ensembl chrNW_004955426:25,079,718...25,102,090
JBrowse link
G Prl prolactin ISO CTD Direct Evidence: marker/mechanism CTD PMID:6777091 NCBI chrNW_004955483:4,495,257...4,503,377 JBrowse link
G Psmb1 proteasome 20S subunit beta 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004955411:3,285,610...3,304,210
Ensembl chrNW_004955411:3,286,835...3,304,931
JBrowse link
G Ptchd1 patched domain containing 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004955509:3,716,086...3,767,541
Ensembl chrNW_004955509:3,715,771...3,767,541
JBrowse link
G Pudp pseudouridine 5'-phosphatase ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004955499:5,110,297...5,181,487
Ensembl chrNW_004955499:5,111,615...5,181,645
JBrowse link
G Ramac RNA guanine-7 methyltransferase activating subunit ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004955416:13,686,997...13,691,792 JBrowse link
G Rhoc ras homolog family member C ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004955435:16,115,095...16,117,736
Ensembl chrNW_004955435:16,115,095...16,117,869
JBrowse link
G Rreb1 ras responsive element binding protein 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004955465:6,572,593...6,757,423
Ensembl chrNW_004955465:6,570,522...6,636,934
JBrowse link
G Ryr3 ryanodine receptor 3 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004955416:712,506...1,260,111
Ensembl chrNW_004955416:713,373...1,259,885
JBrowse link
G Sema6b semaphorin 6B ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004955495:4,387,147...4,399,430
Ensembl chrNW_004955495:4,388,516...4,399,313
JBrowse link
G Sh3gl1 SH3 domain containing GRB2 like 1, endophilin A2 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004955495:4,502,173...4,531,758
Ensembl chrNW_004955495:4,502,173...4,531,758
JBrowse link
G Sh3gl3 SH3 domain containing GRB2 like 3, endophilin A3 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004955416:13,151,288...13,297,878
Ensembl chrNW_004955416:13,150,021...13,297,878
JBrowse link
G Shank3 SH3 and multiple ankyrin repeat domains 3 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004955413:33,660,025...33,714,649
Ensembl chrNW_004955413:33,660,022...33,712,796
JBrowse link
G Shd Src homology 2 domain containing transforming protein D ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004955495:4,579,252...4,587,192
Ensembl chrNW_004955495:4,577,178...4,586,955
JBrowse link
G Sirt6 sirtuin 6 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004955495:4,641,883...4,650,518
Ensembl chrNW_004955495:4,644,023...4,650,083
JBrowse link
G Slc16a1 solute carrier family 16 member 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004955435:16,334,382...16,361,737
Ensembl chrNW_004955435:16,334,793...16,342,552
JBrowse link
G Slc5a5 solute carrier family 5 member 5 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004955524:3,372,539...3,380,758 JBrowse link
G Slmap sarcolemma associated protein ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004955430:7,470,823...7,620,101
Ensembl chrNW_004955430:7,471,400...7,622,459
JBrowse link
G Smyd3 SET and MYND domain containing 3 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004955406:8,768,365...9,417,612
Ensembl chrNW_004955406:8,768,588...9,417,525
JBrowse link
G Stap2 signal transducing adaptor family member 2 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004955495:4,540,867...4,548,769
Ensembl chrNW_004955495:4,541,131...4,553,458
JBrowse link
G Sts steroid sulfatase ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004955499:5,180,451...5,347,862
Ensembl chrNW_004955499:5,180,214...5,345,221
JBrowse link
G Syce1 synaptonemal complex central element protein 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004955507:6,263,070...6,271,289
Ensembl chrNW_004955507:6,264,059...6,271,729
JBrowse link
G Tafa3 TAFA chemokine like family member 3 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004955435:16,132,345...16,142,291
Ensembl chrNW_004955435:16,132,345...16,142,291
JBrowse link
G Tbp TATA-box binding protein ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004955411:3,268,147...3,285,567
Ensembl chrNW_004955411:3,268,147...3,285,077
JBrowse link
G Tjp3 tight junction protein 3 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004955495:5,620,817...5,647,211
Ensembl chrNW_004955495:5,630,066...5,647,090
JBrowse link
G Tm6sf1 transmembrane 6 superfamily member 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004955416:13,561,872...13,584,238
Ensembl chrNW_004955416:13,561,880...13,584,454
JBrowse link
G Tmem69 transmembrane protein 69 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004955464:12,594,544...12,602,137
Ensembl chrNW_004955464:12,594,788...12,597,711
JBrowse link
G Tmigd2 transmembrane and immunoglobulin domain containing 2 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004955495:4,561,251...4,578,432
Ensembl chrNW_004955495:4,572,442...4,581,628
JBrowse link
G Tp63 tumor protein p63 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004955420:18,178,639...18,384,786
Ensembl chrNW_004955420:18,176,155...18,384,786
JBrowse link
G Tshz2 teashirt zinc finger homeobox 2 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004955445:5,571,587...5,830,728
Ensembl chrNW_004955445:5,384,946...5,829,954
JBrowse link
G Ubxn6 UBX domain protein 6 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004955495:4,456,182...4,465,954
Ensembl chrNW_004955495:4,456,308...4,466,254
JBrowse link
G Vldlr very low density lipoprotein receptor ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004955434:7,013,092...7,050,103
Ensembl chrNW_004955434:7,013,092...7,050,103
JBrowse link
G Wdr37 WD repeat domain 37 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004955421:30,097,046...30,161,762
Ensembl chrNW_004955421:30,068,306...30,161,762
JBrowse link
G Whamm WASP homolog associated with actin, golgi membranes and microtubules ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004955416:13,825,925...13,849,883
Ensembl chrNW_004955416:13,826,372...13,849,245
JBrowse link
G Xpo1 exportin 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004955424:22,370,006...22,420,568
Ensembl chrNW_004955424:22,370,006...22,420,568
JBrowse link
G Yaf2 YY1 associated factor 2 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004955500:1,531,884...1,626,335
Ensembl chrNW_004955500:1,531,884...1,559,892
JBrowse link
G Yju2 YJU2 splicing factor homolog ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004955495:4,591,242...4,605,403
Ensembl chrNW_004955495:4,592,523...4,606,005
JBrowse link
G Zbtb7a zinc finger and BTB domain containing 7A ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004955495:4,747,905...4,754,066
Ensembl chrNW_004955495:4,740,901...4,753,992
JBrowse link
G Zfr2 zinc finger RNA binding protein 2 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004955495:5,680,107...5,712,367 JBrowse link
G Znf217 zinc finger protein 217 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004955445:5,326,905...5,337,573 JBrowse link
anogenital venereal wart term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccl20 C-C motif chemokine ligand 20 ISO protein:decreased expression:skin RGD PMID:17545018 RGD:7483603 NCBI chrNW_004955453:6,846,625...6,850,007
Ensembl chrNW_004955453:6,846,549...6,850,031
JBrowse link
G Cd8a CD8a molecule ISO mRNA:decreased expression:zone of skin (human) RGD PMID:25774455 RGD:36174028 NCBI chrNW_004955424:952,595...979,159
Ensembl chrNW_004955424:952,502...978,636
JBrowse link
G Ctla4 cytotoxic T-lymphocyte associated protein 4 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chrNW_004955457:11,028,707...11,034,898
Ensembl chrNW_004955457:11,028,698...11,073,460
JBrowse link
G Foxp3 forkhead box P3 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chrNW_004955543:731,707...742,606
Ensembl chrNW_004955543:731,707...742,606
JBrowse link
G Il10 interleukin 10 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chrNW_004955406:42,307,789...42,312,255
Ensembl chrNW_004955406:42,307,664...42,312,779
JBrowse link
G Il12b interleukin 12B treatment ISO protein:decreased expression:peripheral blood mononuclear cells (human) RGD PMID:16114559 PMID:23754510 RGD:40400714 RGD:7829774 NCBI chrNW_004955408:13,302,506...13,316,300
Ensembl chrNW_004955408:13,304,219...13,312,620
JBrowse link
G Il2 interleukin 2 ISO protein:decreased expression:peripheral blood mononuclear cells (human) RGD PMID:23754510 RGD:40400714 NCBI chrNW_004955428:18,163,010...18,168,157
Ensembl chrNW_004955428:18,162,467...18,168,265
JBrowse link
G Il21 interleukin 21 ISO protein:decreased expression:blood serum (human) RGD PMID:31414711 RGD:127285371 NCBI chrNW_004955428:18,057,096...18,065,492
Ensembl chrNW_004955428:18,057,096...18,065,492
JBrowse link
G Il4 interleukin 4 treatment ISO protein:increased expression:peripheral blood mononuclear cells (human) RGD PMID:16114559 PMID:23754510 RGD:40400714 RGD:7829774 NCBI chrNW_004955408:4,058,052...4,065,999 JBrowse link
G Il6 interleukin 6 ISO protein:decreased expression:peripheral blood mononuclear cells (human) RGD PMID:23754510 RGD:40400714 NCBI chrNW_004955410:25,079,835...25,084,390 JBrowse link
G Mapk8 mitogen-activated protein kinase 8 treatment ISO mRNA:increased expression:zone of skin (human) RGD PMID:25774455 RGD:36174028 NCBI chrNW_004955556:1,593,552...1,705,543
Ensembl chrNW_004955556:1,593,494...1,665,784
JBrowse link
G Myd88 MYD88 innate immune signal transduction adaptor ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chrNW_004955427:25,553,589...25,557,654
Ensembl chrNW_004955427:25,553,589...25,559,138
JBrowse link
G Pdcd1 programmed cell death 1 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chrNW_004955542:49,290...57,747
Ensembl chrNW_004955542:49,259...58,823
JBrowse link
G Ptpn11 protein tyrosine phosphatase non-receptor type 11 ISO protein:increased expression:foreskin RGD PMID:18543080 RGD:39128248 NCBI chrNW_004955482:8,934,734...9,031,230
Ensembl chrNW_004955482:8,934,306...9,035,203
JBrowse link
G Ptpn6 protein tyrosine phosphatase non-receptor type 6 ISO protein:increased expression:foreskin RGD PMID:18543080 RGD:39128248 NCBI chrNW_004955413:4,525,954...4,547,177
Ensembl chrNW_004955413:4,525,954...4,547,177
JBrowse link
G Serpinf1 serpin family F member 1 disease_progression ISO mRNA, protein:decreased expression:skin of body (human) RGD PMID:23569025 RGD:27226706 NCBI chrNW_004955481:1,414,930...1,426,436
Ensembl chrNW_004955481:1,414,930...1,426,241
JBrowse link
G Tgfb1 transforming growth factor beta 1 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chrNW_004955555:274,405...288,441
Ensembl chrNW_004955555:270,652...288,441
JBrowse link
G Tlr2 toll like receptor 2 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chrNW_004955471:8,011,710...8,019,063
Ensembl chrNW_004955471:8,014,910...8,017,258
JBrowse link
G Tlr3 toll like receptor 3 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chrNW_004955403:22,977,882...23,001,392
Ensembl chrNW_004955403:22,979,120...23,001,467
JBrowse link
G Tlr4 toll like receptor 4 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chrNW_004955419:10,190,937...10,201,896
Ensembl chrNW_004955419:10,191,120...10,202,135
JBrowse link
G Tlr7 toll like receptor 7 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chrNW_004955544:424,897...443,562
Ensembl chrNW_004955544:424,850...443,564
JBrowse link
G Tlr8 toll like receptor 8 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chrNW_004955544:302,027...317,110
Ensembl chrNW_004955544:303,319...306,426
JBrowse link
G Tlr9 toll like receptor 9 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chrNW_004955532:3,828,645...3,832,699 JBrowse link
G Tnf tumor necrosis factor ISO protein:increased expression:peripheral blood mononuclear cells (human) RGD PMID:23754510 RGD:40400714 NCBI chrNW_004955437:117,267...119,899
Ensembl chrNW_004955437:117,206...120,700
JBrowse link
G Tnfrsf18 TNF receptor superfamily member 18 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chrNW_004955486:9,571,527...9,573,733
Ensembl chrNW_004955486:9,571,530...9,573,733
JBrowse link
anovulation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nr5a2 nuclear receptor subfamily 5 group A member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18628394 NCBI chrNW_004955406:36,263,257...36,415,494
Ensembl chrNW_004955406:36,263,184...36,415,525
JBrowse link
aromatase excess syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC102023780 aromatase ISO OMIM NCBI chrNW_004955409:3,198,622...3,313,072
Ensembl chrNW_004955409:3,266,233...3,313,142
JBrowse link
Asthenozoospermia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bscl2 BSCL2 lipid droplet biogenesis associated, seipin ISO CTD Direct Evidence: marker/mechanism CTD PMID:26181198 NCBI chrNW_004955599:505,725...514,225
Ensembl chrNW_004955599:507,501...514,151
JBrowse link
G Cfap251 cilia and flagella associated protein 251 ISO ClinVar Annotator: match by term: asthenozoospermia ClinVar PMID:30122541 NCBI chrNW_004955482:6,508,563...6,553,561
Ensembl chrNW_004955482:6,509,281...6,553,835
JBrowse link
G Plau plasminogen activator, urokinase ISO mRNA, protein:decreased expression:testes, epididymis (rat)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:18998460 RGD:7241809 NCBI chrNW_004955437:17,995,726...18,000,542
Ensembl chrNW_004955437:17,994,537...18,000,209
JBrowse link
autosomal recessive congenital bilateral absence of 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 ISO ClinVar Annotator: match by term: Congenital bilateral aplasia of vas deferens from CFTR mutation ClinVar PMID:25741868 PMID:27476656 NCBI chrNW_004955586:359,573...477,277
Ensembl chrNW_004955586:359,567...479,325
JBrowse link
G Cftr CF transmembrane conductance regulator ISO OMIM NCBI chrNW_004955432:23,179,645...23,328,347
Ensembl chrNW_004955432:23,178,866...23,328,382
JBrowse link
Axenfeld-Rieger syndrome type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pax6 paired box 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14630904 NCBI chrNW_004955476:10,058,979...10,074,668
Ensembl chrNW_004955476:10,058,961...10,074,162
JBrowse link
G Pitx2 paired like homeodomain 2 ISO OMIM NCBI chrNW_004955457:15,803,493...15,823,193
Ensembl chrNW_004955457:15,803,219...15,823,310
JBrowse link
G Prdm5 PR/SET domain 5 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:26489929 NCBI chrNW_004955428:19,684,721...19,881,716
Ensembl chrNW_004955428:19,714,730...19,881,917
JBrowse link
azoospermia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alb albumin ISO CTD Direct Evidence: therapeutic CTD PMID:27289041 NCBI chrNW_004955447:9,327...21,212 JBrowse link
G Bcl2 BCL2 apoptosis regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:20610805 NCBI chrNW_004955402:46,911,125...47,084,214
Ensembl chrNW_004955402:46,916,266...47,084,485
JBrowse link
G Brdt bromodomain testis associated susceptibility ISO DNA:SNP: :rs3088232(human)
protein:decreased expression:testis:
RGD PMID:22016351 PMID:22035730 RGD:9586359 RGD:9586360 NCBI chrNW_004955423:2,434,146...2,498,523
Ensembl chrNW_004955423:2,431,192...2,494,906
JBrowse link
G Bscl2 BSCL2 lipid droplet biogenesis associated, seipin ISO RGD PMID:25934999 RGD:11085488 NCBI chrNW_004955599:505,725...514,225
Ensembl chrNW_004955599:507,501...514,151
JBrowse link
G Cftr CF transmembrane conductance regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:10856487 NCBI chrNW_004955432:23,179,645...23,328,347
Ensembl chrNW_004955432:23,178,866...23,328,382
JBrowse link
G Chpt1 choline phosphotransferase 1 ISO ClinVar Annotator: match by term: Spermatogenic Failure ClinVar NCBI chrNW_004955405:37,081,024...37,093,798 JBrowse link
G Epas1 endothelial PAS domain protein 1 ISO RGD PMID:14608355 RGD:734934 NCBI chrNW_004955441:13,244,626...13,328,220
Ensembl chrNW_004955441:13,244,626...13,328,369
JBrowse link
G Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit susceptibility ISO DNA:snp:3' utr:c.8092C>A (human) RGD PMID:18616887 RGD:13207429 NCBI chrNW_004955555:2,393,510...2,430,180
Ensembl chrNW_004955555:2,393,278...2,406,582
JBrowse link
G Hsd17b10 hydroxysteroid 17-beta dehydrogenase 10 ISO mRNA:increased expression:testis RGD PMID:9851691 RGD:13792783 NCBI chrNW_004955475:478,690...481,029
Ensembl chrNW_004955475:478,690...481,029
JBrowse link
G Nlrp14 NLR family pyrin domain containing 14 ISO ClinVar Annotator: match by term: Spermatogenic Failure ClinVar PMID:16931801 PMID:20981092 PMID:22344438 PMID:24033266 PMID:25741868 NCBI chrNW_004955414:22,885,226...22,914,254
Ensembl chrNW_004955414:22,885,205...22,914,343
JBrowse link
G Sohlh1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 ISO ClinVar Annotator: match by term: Spermatogenic Failure ClinVar PMID:20506135 PMID:28492532 PMID:28718531 NCBI chrNW_004955513:4,767,591...4,771,654 JBrowse link
G Spata16 spermatogenesis associated 16 ISO ClinVar Annotator: match by term: Spermatogenic Failure ClinVar NCBI chrNW_004955420:2,910,780...3,134,177
Ensembl chrNW_004955420:2,910,749...3,134,202
JBrowse link
G Sycp3 synaptonemal complex protein 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Spermatogenic Failure
CTD
ClinVar
PMID:14643120 NCBI chrNW_004955405:37,093,330...37,102,789
Ensembl chrNW_004955405:37,093,652...37,102,856
JBrowse link
AZOOSPERMIA, OBSTRUCTIVE, WITH NEPHROLITHIASIS term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cldn2 claudin 2 ISO OMIM NCBI chrNW_004955490:9,137,157...9,180,945
Ensembl chrNW_004955490:9,136,986...9,145,034
JBrowse link
bacterial vaginosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mbl2 mannose binding lectin 2 ISO DNA:SNP:cds: RGD PMID:17470593 RGD:8693700 NCBI chrNW_004955425:7,704,371...7,708,951
Ensembl chrNW_004955425:7,702,137...7,709,006
JBrowse link
Blepharophimosis Syndrome Type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxl2 forkhead box L2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Blepharophimosis syndrome type 1
CTD
ClinVar
PMID:11175783 PMID:11468277 PMID:11776388 PMID:12400065 PMID:12529855 More... NCBI chrNW_004955501:83,965...84,476 JBrowse link
caudal regression syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Casq2 calsequestrin 2 ISO ClinVar Annotator: match by term: Caudal dysgenesis syndrome ClinVar PMID:24033266 PMID:25741868 PMID:26196381 PMID:28492532 NCBI chrNW_004955435:18,941,975...18,996,027
Ensembl chrNW_004955435:18,941,936...18,996,200
JBrowse link
G Cdx2 caudal type homeobox 2 ISO ClinVar Annotator: match by term: Sirenomelia ClinVar PMID:25741868 NCBI chrNW_004955497:7,316,372...7,321,627 JBrowse link
G Pcsk5 proprotein convertase subtilisin/kexin type 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18519639 NCBI chrNW_004955512:2,914,834...3,333,440
Ensembl chrNW_004955512:2,917,243...3,333,688
JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Agenesis of sacrum ClinVar PMID:18564 PMID:9497245 PMID:10484775 PMID:11575529 PMID:12059893 More... NCBI chrNW_004955468:879,807...1,000,118
Ensembl chrNW_004955468:879,951...1,000,036
JBrowse link
G Vangl1 VANGL planar cell polarity protein 1 ISO OMIM NCBI chrNW_004955435:18,890,995...18,933,258
Ensembl chrNW_004955435:18,882,565...18,933,258
JBrowse link
G Zbtb16 zinc finger and BTB domain containing 16 ISO RGD PMID:27727328 RGD:40924666 NCBI chrNW_004955412:15,668,332...15,845,384
Ensembl chrNW_004955412:15,668,332...15,845,372
JBrowse link
cervical adenocarcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Spink1 serine peptidase inhibitor Kazal type 1 ISO RGD PMID:2258083 RGD:2300391 NCBI chrNW_004955415:6,328,672...6,378,611
Ensembl chrNW_004955415:6,371,059...6,378,529
JBrowse link
G Tff1 trefoil factor 1 ISO mRNA, protein:increased expression:uterine cervix RGD PMID:10727981 RGD:2298570 NCBI chrNW_004955407:39,363,693...39,365,724 JBrowse link
G Tfrc transferrin receptor ISO protein:increased expression:uterine cervix RGD PMID:9739406 RGD:2292022 NCBI chrNW_004955420:12,348,392...12,372,714
Ensembl chrNW_004955420:12,348,821...12,372,691
JBrowse link
G Tp53 tumor protein p53 disease_progression ISO RGD PMID:17354237 RGD:2298527 NCBI chrNW_004955467:9,241,391...9,256,716
Ensembl chrNW_004955467:9,252,130...9,255,928
JBrowse link
cervical cancer term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apex1 apurinic/apyrimidinic endodeoxyribonuclease 1 ISO DNA:polymorphism: :p.D148E (human) RGD PMID:18503157 PMID:19292061 RGD:2315657 RGD:2315662 NCBI chrNW_004955550:1,273,170...1,275,843
Ensembl chrNW_004955550:1,273,284...1,279,743
JBrowse link
G Api5 apoptosis inhibitor 5 disease_progression ISO mRNA:increased expression RGD PMID:10780674 RGD:1643340 NCBI chrNW_004955422:4,121,913...4,149,242
Ensembl chrNW_004955422:4,121,837...4,149,471
JBrowse link
G Bcl2l1 BCL2 like 1 ISO protein:increased expression:uterine cervix RGD PMID:17311011 RGD:1643476 NCBI chrNW_004955422:29,254,440...29,307,104
Ensembl chrNW_004955422:29,254,216...29,308,174
JBrowse link
G Birc2 baculoviral IAP repeat containing 2 ISO mRNA:decreased expression:uterine cervix RGD PMID:16504151 RGD:1643527 NCBI chrNW_004955412:5,658,322...5,685,628
Ensembl chrNW_004955412:5,659,478...5,685,114
JBrowse link
G Brca1 BRCA1 DNA repair associated disease_progression ISO DNA:hypermethylation:promoter RGD PMID:12773202 RGD:2298941 NCBI chrNW_004955451:16,819,463...16,870,780
Ensembl chrNW_004955451:16,819,023...16,855,528
JBrowse link
G Brip1 BRCA1 interacting helicase 1 ISO ClinVar Annotator: match by term: Cancer of cervix ClinVar PMID:18483852 PMID:25741868 PMID:26467025 PMID:26790966 PMID:28492532 More... NCBI chrNW_004955451:2,705,834...2,820,610
Ensembl chrNW_004955451:2,707,793...2,818,592
JBrowse link
G Bsg basigin (Ok blood group) disease_progression ISO RGD PMID:18223224 RGD:2296028 NCBI chrNW_004955495:7,148,806...7,156,296 JBrowse link
G Casp3 caspase 3 ISO RGD PMID:18177927 RGD:2298948 NCBI chrNW_004955403:24,315,712...24,326,271 JBrowse link
G Ccnb1 cyclin B1 ISO mRNA, protein:increased expression:uterine cervix RGD PMID:16614707 RGD:2315938 NCBI chrNW_004955446:140,661...149,500
Ensembl chrNW_004955446:140,093...149,500
JBrowse link
G Cd55 CD55 molecule (Cromer blood group) ISO RGD PMID:9358772 RGD:2293549 NCBI chrNW_004955406:42,773,368...42,796,205 JBrowse link
G Cdc25a cell division cycle 25A ISO RGD PMID:18299147 RGD:2296067 NCBI chrNW_004955420:24,345,002...24,361,802
Ensembl chrNW_004955420:24,344,388...24,362,596
JBrowse link
G Cdc25c cell division cycle 25C ISO RGD PMID:15289842 RGD:4105450 NCBI chrNW_004955418:2,114,053...2,138,513 JBrowse link
G Cdh13 cadherin 13 ISO DNA:hypermethylation:promoter RGD PMID:17548682 RGD:2293543 NCBI chrNW_004955564:407,120...1,549,880
Ensembl chrNW_004955564:408,730...1,426,841
JBrowse link
G Cdk1 cyclin dependent kinase 1 ISO RGD PMID:18299147 RGD:2296067 NCBI chrNW_004955425:14,210,681...14,226,474
Ensembl chrNW_004955425:14,210,680...14,226,474
JBrowse link
G Ebag9 estrogen receptor binding site associated antigen 9 disease_progression ISO protein:increased expression:uterine cervix RGD PMID:16112176 RGD:2289851 NCBI chrNW_004955417:16,941,035...16,958,876
Ensembl chrNW_004955417:16,936,622...16,958,876
JBrowse link
G Erbb4 erb-b2 receptor tyrosine kinase 4 ISO protein:increased expression: uterine cervix, cytoplasm RGD PMID:28042953 RGD:126790468 NCBI chrNW_004955457:3,177,905...4,236,152
Ensembl chrNW_004955457:3,177,991...4,228,558
JBrowse link
G Fanca FA complementation group A no_association ISO DNA:SNPs, haplotypes: :[rs2239359, rs7190823, rs7195066 (human)
DNA:SNP: :rs11649196 (human)
RGD PMID:19012493 PMID:21543111 RGD:11344886 RGD:11344901 NCBI chrNW_004955541:3,272,936...3,320,229
Ensembl chrNW_004955541:3,273,022...3,320,052
JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Cervical cancer
ClinVar Annotator: match by term: Cancer of cervix
ClinVar PMID:1908846 PMID:7773297 PMID:8589699 PMID:8858131 PMID:9677066 More... NCBI chrNW_004955514:1,030,244...1,038,590
Ensembl chrNW_004955514:1,025,600...1,038,590
JBrowse link
G Hnrnpc heterogeneous nuclear ribonucleoprotein C ISO protein:increased expression:cervical epithelium (human) RGD PMID:19319956 RGD:10054394 NCBI chrNW_004955550:1,949,975...2,002,297
Ensembl chrNW_004955550:1,949,975...2,002,297
JBrowse link
G Hoxb13 homeobox B13 ISO mRNA:increased expression:uterine cervix RGD PMID:16803519 RGD:2314728 NCBI chrNW_004955451:12,536,415...12,538,169
Ensembl chrNW_004955451:12,536,415...12,538,169
JBrowse link
G Hspa8 heat shock protein family A (Hsp70) member 8 ISO Protein: increased expression RGD PMID:21137014 RGD:6218976 NCBI chrNW_004955412:23,863,513...23,867,984
Ensembl chrNW_004955412:23,862,590...23,867,984
JBrowse link
G Il10 interleukin 10 disease_progression ISO protein:increased expression:serum RGD PMID:9541628 RGD:2317658 NCBI chrNW_004955406:42,307,789...42,312,255
Ensembl chrNW_004955406:42,307,664...42,312,779
JBrowse link
G Il1b interleukin 1 beta susceptibility ISO associated with Papillomavirus Infections;DNA:SNP:promoter: -511 C>T (rs16944)(human) RGD PMID:25893807 RGD:36174015 NCBI chrNW_004955470:1,486,936...1,491,888
Ensembl chrNW_004955470:1,486,967...1,491,947
JBrowse link
G Kdm3a lysine demethylase 3A severity ISO human gene in a mouse model RGD PMID:23492365 RGD:9590219 NCBI chrNW_004955424:1,164,384...1,218,607
Ensembl chrNW_004955424:1,171,827...1,218,607
JBrowse link
G Kmt2a lysine methyltransferase 2A ISO human gene in a mouse model RGD PMID:22926525 RGD:9588221 NCBI chrNW_004955412:19,586,435...19,670,149 JBrowse link
G Kmt2e lysine methyltransferase 2E (inactive) ISO human gene in a mouse model RGD PMID:25172963 RGD:9588553 NCBI chrNW_004955410:9,714,587...9,808,021 JBrowse link
G LOC102026469 HLA class II histocompatibility antigen, DP beta 1 chain susceptibility ISO DNA:polymorphism: :HLA-DPB1*1301 (human) RGD PMID:17349874 RGD:150429811 NCBI chrNW_004955437:1,655,092...1,666,552
Ensembl chrNW_004955437:1,635,538...1,669,042
JBrowse link
G Map2k3 mitogen-activated protein kinase kinase 3 treatment ISO RGD PMID:20980434 RGD:7495806 NCBI chrNW_004955577:1,225,033...1,249,510
Ensembl chrNW_004955577:1,237,287...1,248,541
JBrowse link
G Map2k6 mitogen-activated protein kinase kinase 6 ISO RGD PMID:20980434 RGD:7495806 NCBI chrNW_004955478:3,331,607...3,448,840
Ensembl chrNW_004955478:3,331,607...3,448,842
JBrowse link
G Mdc1 mediator of DNA damage checkpoint 1 ISO mRNA, protein:increased expression:uterine cervix (human) RGD PMID:21853275 RGD:9589052 NCBI chrNW_004955583:688,288...722,393 JBrowse link
G Med4 mediator complex subunit 4 severity ISO mRNA:decreased expression:uterine cervix (human) RGD PMID:19911042 RGD:12880436 NCBI chrNW_004955431:1,794,863...1,812,641
Ensembl chrNW_004955431:1,794,115...1,812,889
JBrowse link
G Mmp13 matrix metallopeptidase 13 ISO mRNA:increased expression:uterine cervix RGD PMID:17243165 RGD:2306082 NCBI chrNW_004955412:6,106,994...6,118,760
Ensembl chrNW_004955412:6,106,994...6,118,760
JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility ISO DNA:missense mutation:cds:g.1298A>C (human) RGD PMID:27771518 RGD:38501051 NCBI chrNW_004955486:2,096,379...2,112,240
Ensembl chrNW_004955486:2,096,379...2,112,240
JBrowse link
G Ndufs6 NADH:ubiquinone oxidoreductase subunit S6 disease_progression ISO DNA, mRNA:amplification, increased expression:uterine cervix RGD PMID:18559093 RGD:2302384 NCBI chrNW_004955504:893,112...903,282
Ensembl chrNW_004955504:893,112...903,282
JBrowse link
G Nras NRAS proto-oncogene, GTPase ISO mRNA:increased expression:uterine cervix RGD PMID:14984964 RGD:2314838 NCBI chrNW_004955435:18,001,517...18,009,105
Ensembl chrNW_004955435:18,001,517...18,009,103
JBrowse link
G Pgm3 phosphoglucomutase 3 ISO RGD PMID:508567 RGD:2299870 NCBI chrNW_004955411:10,904,022...10,925,613
Ensembl chrNW_004955411:10,904,022...10,924,216
JBrowse link
G Prkn parkin RBR E3 ubiquitin protein ligase disease_progression ISO protein:decreased expression:uterine cervix (human) RGD PMID:28631565 RGD:13432557 NCBI chrNW_004955439:18,664,230...19,953,358
Ensembl chrNW_004955439:18,664,379...19,951,152
JBrowse link
G Ptk2 protein tyrosine kinase 2 disease_progression ISO RGD PMID:16638855 RGD:2292556 NCBI chrNW_004955461:14,337,914...14,622,779
Ensembl chrNW_004955461:14,337,914...14,556,931
JBrowse link
G Ptpn11 protein tyrosine phosphatase non-receptor type 11 ISO protein:increased expression:foreskin RGD PMID:18543080 RGD:39128248 NCBI chrNW_004955482:8,934,734...9,031,230
Ensembl chrNW_004955482:8,934,306...9,035,203
JBrowse link
G Ptpn6 protein tyrosine phosphatase non-receptor type 6 ISO protein:increased expression:foreskin RGD PMID:18543080 RGD:39128248 NCBI chrNW_004955413:4,525,954...4,547,177
Ensembl chrNW_004955413:4,525,954...4,547,177
JBrowse link
G Rassf1 Ras association domain family member 1 ISO associated with Papillomavirus Infections;DNA:hypermethylation:promoter RGD PMID:18608185 RGD:2299861 NCBI chrNW_004955532:2,132,892...2,142,106
Ensembl chrNW_004955532:2,132,822...2,142,106
JBrowse link
G Smad2 SMAD family member 2 ISO DNA, mRNA:insertion, deletion, decreased expression:uterine cervix RGD PMID:12894231 RGD:2299968 NCBI chrNW_004955402:33,131,760...33,217,144
Ensembl chrNW_004955402:33,136,778...33,216,844
JBrowse link
G Smad4 SMAD family member 4 ISO mRNA:decreased expression:uterine cervix RGD PMID:12894231 RGD:2299968 NCBI chrNW_004955402:35,956,080...36,001,746
Ensembl chrNW_004955402:35,961,165...35,994,538
JBrowse link
G Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 ISO mRNA:increased expression:cervix epithelium (human) RGD PMID:27581326 RGD:13441596 NCBI chrNW_004955441:6,649,895...6,724,271
Ensembl chrNW_004955441:6,646,385...6,713,028
JBrowse link
G Tap1 transporter 1, ATP binding cassette subfamily B member susceptibility ISO DNA:SNPs: : RGD PMID:12648582 PMID:18248301 RGD:6482260 RGD:6482272 NCBI chrNW_004955437:1,504,549...1,511,110
Ensembl chrNW_004955437:1,504,947...1,511,097
JBrowse link
G Tap2 transporter 2, ATP binding cassette subfamily B member susceptibility ISO DNA:SNPs: : RGD PMID:12648582 PMID:18248301 RGD:6482260 RGD:6482272 NCBI chrNW_004955437:1,480,217...1,499,032 JBrowse link
G Timp4 TIMP metallopeptidase inhibitor 4 disease_progression ISO mRNA:increased expression:uterine cervix RGD PMID:15816637 RGD:2290434 NCBI chrNW_004955429:14,689,016...14,693,211
Ensembl chrNW_004955429:14,685,031...14,693,211
JBrowse link
G Tnf tumor necrosis factor susceptibility ISO DNA:polymorphism:promoter:-308G>A (human) RGD PMID:19823053 RGD:2315116 NCBI chrNW_004955437:117,267...119,899
Ensembl chrNW_004955437:117,206...120,700
JBrowse link
G Tp53 tumor protein p53 ISO ClinVar Annotator: match by term: Cervical cancer ClinVar PMID:1349102 PMID:1849234 PMID:25741868 PMID:28492532 PMID:30374176 More... NCBI chrNW_004955467:9,241,391...9,256,716
Ensembl chrNW_004955467:9,252,130...9,255,928
JBrowse link
G Xrcc1 X-ray repair cross complementing 1 ISO DNA:polymorphism: :p.R194W RGD PMID:18851872 RGD:2302567 NCBI chrNW_004955555:1,293,416...1,315,839
Ensembl chrNW_004955555:1,293,416...1,315,839
JBrowse link
G Zfhx3 zinc finger homeobox 3 ISO mRNA:increased expression:uterine cervix RGD PMID:11812077 RGD:2315697 NCBI chrNW_004955484:5,470,203...5,746,325
Ensembl chrNW_004955484:5,474,769...5,789,707
JBrowse link
cervical mucinous adenocarcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Stk11 serine/threonine kinase 11 disease_progression ISO DNA:mutations RGD PMID:12533684 RGD:2291947 NCBI chrNW_004955495:6,678,195...6,699,408
Ensembl chrNW_004955495:6,678,195...6,699,058
JBrowse link
cervical squamous cell carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adar adenosine deaminase RNA specific disease_progression ISO protein:increased expression:cervix squamous epithelium (human) RGD PMID:28109322 RGD:125097518 NCBI chrNW_004955545:1,078,319...1,106,938
Ensembl chrNW_004955545:1,078,319...1,106,938
JBrowse link
G Bax BCL2 associated X, apoptosis regulator ISO protein:increased expression:uterine cervix RGD PMID:17694953 RGD:1643352 NCBI chrNW_004955559:1,695,960...1,700,246
Ensembl chrNW_004955559:1,695,960...1,700,244
JBrowse link
G Birc2 baculoviral IAP repeat containing 2 disease_progression ISO DNA, protein:amplification, increased expression:uterine cervix, nucleus RGD PMID:12208731 RGD:1643529 NCBI chrNW_004955412:5,658,322...5,685,628
Ensembl chrNW_004955412:5,659,478...5,685,114
JBrowse link
G Brip1 BRCA1 interacting helicase 1 severity ISO mRNA, protein:increased expression:uterine cervix, nucleus (human) RGD PMID:24708616 RGD:11252104 NCBI chrNW_004955451:2,705,834...2,820,610
Ensembl chrNW_004955451:2,707,793...2,818,592
JBrowse link
G Ccl22 C-C motif chemokine ligand 22 severity ISO RGD PMID:28086903 RGD:38455996 NCBI chrNW_004955433:15,002,001...15,007,324
Ensembl chrNW_004955433:15,001,930...15,008,032
JBrowse link
G Ccr4 C-C motif chemokine receptor 4 severity ISO RGD PMID:28086903 RGD:38455996 NCBI chrNW_004955421:205,297...210,944
Ensembl chrNW_004955421:205,297...210,944
JBrowse link
G Cd82 CD82 molecule ISO protein:decreased expression:uterine cervix RGD PMID:15642213 RGD:2289399 NCBI chrNW_004955422:3,035,887...3,069,298
Ensembl chrNW_004955422:3,033,133...3,052,153
JBrowse link
G Csf1r colony stimulating factor 1 receptor ISO protein:increased expression:uterine cervix RGD PMID:18565574 RGD:2299119 NCBI chrNW_004955415:4,434,486...4,462,505
Ensembl chrNW_004955415:4,434,453...4,461,751
JBrowse link
G Fgf7 fibroblast growth factor 7 ISO cervical squamous cell carcinoma; mRNA:increased expression:cervical squamous cells RGD PMID:17306351 RGD:2289084 NCBI chrNW_004955409:4,633,542...4,686,768
Ensembl chrNW_004955409:4,632,858...4,686,860
JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 no_association ISO DNA:missense mutation:cds: p.S249G (human) RGD PMID:11605053 RGD:38500202 NCBI chrNW_004955514:1,030,244...1,038,590
Ensembl chrNW_004955514:1,025,600...1,038,590
JBrowse link
G Fos Fos proto-oncogene, AP-1 transcription factor subunit disease_progression ISO protein:increased expression:uterine cervix RGD PMID:15514944 RGD:2293757 NCBI chrNW_004955523:307,181...310,728
Ensembl chrNW_004955523:305,728...310,728
JBrowse link
G Fosl1 FOS like 1, AP-1 transcription factor subunit ISO protein:decreased expression:uterine cervix RGD PMID:15514944 RGD:2293757 NCBI chrNW_004955422:19,425,741...19,431,801
Ensembl chrNW_004955422:19,423,591...19,433,885
JBrowse link
G Foxp3 forkhead box P3 severity ISO RGD PMID:28086903 RGD:38455996 NCBI chrNW_004955543:731,707...742,606
Ensembl chrNW_004955543:731,707...742,606
JBrowse link
G Pdpn podoplanin disease_progression ISO RGD PMID:16528371 RGD:2292237 NCBI chrNW_004955527:4,183,639...4,215,200 JBrowse link
G Smad3 SMAD family member 3 severity ISO RGD PMID:28086903 RGD:38455996 NCBI chrNW_004955450:8,747,651...8,842,003
Ensembl chrNW_004955450:8,747,651...8,842,136
JBrowse link
G Timp2 TIMP metallopeptidase inhibitor 2 ISO protein:decreased expression:uterine cervix RGD PMID:16619570 RGD:2290402 NCBI chrNW_004955506:3,769,113...3,812,896
Ensembl chrNW_004955506:3,768,646...3,813,820
JBrowse link
G Tmbim6 transmembrane BAX inhibitor motif containing 6 disease_progression ISO mRNA:increased expression:uterine cervix RGD PMID:15337562 RGD:2291959 NCBI chrNW_004955547:335,344...358,503
Ensembl chrNW_004955547:335,275...358,503
JBrowse link
G Tnfrsf4 TNF receptor superfamily member 4 severity ISO RGD PMID:28086903 RGD:38455996 NCBI chrNW_004955486:9,565,424...9,569,836
Ensembl chrNW_004955486:9,567,220...9,569,676
JBrowse link
G Tnfsf4 TNF superfamily member 4 severity ISO RGD PMID:28086903 RGD:38455996 NCBI chrNW_004955406:13,477,077...13,493,309
Ensembl chrNW_004955406:13,477,077...13,493,309
JBrowse link
G Tp53 tumor protein p53 disease_progression ISO RGD PMID:17969407 RGD:2298526 NCBI chrNW_004955467:9,241,391...9,256,716
Ensembl chrNW_004955467:9,252,130...9,255,928
JBrowse link
G Tymp thymidine phosphorylase disease_progression ISO RGD PMID:16803522 RGD:2293719 NCBI chrNW_004955413:33,505,424...33,509,095
Ensembl chrNW_004955413:33,505,446...33,508,748
JBrowse link
cervix carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apex1 apurinic/apyrimidinic endodeoxyribonuclease 1 ISO DNA:SNPs (human) RGD PMID:19202550 RGD:2315691 NCBI chrNW_004955550:1,273,170...1,275,843
Ensembl chrNW_004955550:1,273,284...1,279,743
JBrowse link
G Bag1 BAG cochaperone 1 ISO protein:increased expression:uterine cervix RGD PMID:10047462 RGD:2293889 NCBI chrNW_004955472:2,394,317...2,405,199 JBrowse link
G Bak1 BCL2 antagonist/killer 1 ISO DNA:missense mutations:exon:multiple (human) RGD PMID:12771926 RGD:2315701 NCBI chrNW_004955437:2,036,415...2,041,997
Ensembl chrNW_004955437:2,036,415...2,041,997
JBrowse link
G Ccnd3 cyclin D3 ISO RGD PMID:14751136 RGD:2316013 NCBI chrNW_004955437:8,266,523...8,273,855
Ensembl chrNW_004955437:8,268,118...8,273,855
JBrowse link
G Cd9 CD9 molecule disease_progression ISO RGD PMID:14695144 RGD:2326206 NCBI chrNW_004955413:3,891,874...3,924,065
Ensembl chrNW_004955413:3,891,874...3,928,119
JBrowse link
G Efemp2 EGF containing fibulin extracellular matrix protein 2 exacerbates ISO mRNA, protein:increased expression:cervix epithelium (human) RGD PMID:24737201 RGD:42722607 NCBI chrNW_004955422:19,463,090...19,470,605
Ensembl chrNW_004955422:19,463,987...19,470,605
JBrowse link
G Erap1 endoplasmic reticulum aminopeptidase 1 ISO DNA:SNPs (human) RGD PMID:19202550 RGD:2315691 NCBI chrNW_004955418:15,827,560...15,859,720
Ensembl chrNW_004955418:15,830,371...15,859,720
JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO DNA:missense mutation:CDS:amino acid S249C, only found in 1/51 primary tumors and no cell lines tested implying that mutation frequency is much lower than previously reported
DNA:missense mutations:CDS:somatic mutations found in 3/12 (25%) of cervix carcinomas, all mutations are equivalent to activating germline mutations which cause thanatophoric dysplasia
RGD PMID:10471491 PMID:11114733 RGD:2289864 RGD:2289865 NCBI chrNW_004955514:1,030,244...1,038,590
Ensembl chrNW_004955514:1,025,600...1,038,590
JBrowse link
G Mgmt O-6-methylguanine-DNA methyltransferase ISO DNA:polymorphisms:cds:p.I143V, p.K178R (human) RGD PMID:17234722 RGD:2317690 NCBI chrNW_004955477:7,103,035...7,375,073
Ensembl chrNW_004955477:7,102,977...7,376,530
JBrowse link
G Ptgs1 prostaglandin-endoperoxide synthase 1 disease_progression ISO RGD PMID:16803521 RGD:2300207 NCBI chrNW_004955419:5,678,750...5,699,305
Ensembl chrNW_004955419:5,678,694...5,699,305
JBrowse link
G Ptk2 protein tyrosine kinase 2 ISO protein:increased tyrosine phosphorylation:cervix RGD PMID:14675348 RGD:2292568 NCBI chrNW_004955461:14,337,914...14,622,779
Ensembl chrNW_004955461:14,337,914...14,556,931
JBrowse link
G Sparc secreted protein acidic and cysteine rich ISO DNA:hypermethylation RGD PMID:16434596 RGD:2300022 NCBI chrNW_004955408:6,100,123...6,122,460
Ensembl chrNW_004955408:6,099,003...6,122,459
JBrowse link
G Tap2 transporter 2, ATP binding cassette subfamily B member susceptibility ISO DNA:SNP: :(rs4148876)(human) RGD PMID:17366619 RGD:6482264 NCBI chrNW_004955437:1,480,217...1,499,032 JBrowse link
G Tk1 thymidine kinase 1 ISO protein:increased expression:serum (human) RGD PMID:11474248 RGD:2317243 NCBI chrNW_004955506:4,379,830...4,390,729
Ensembl chrNW_004955506:4,379,830...4,394,713
JBrowse link
G Tsg101 tumor susceptibility 101 ISO mRNA:alternative form:uterine cervix
mRNA:alternative forms:uterine cervix:multiple
RGD PMID:10505033 PMID:10600297 RGD:2291851 RGD:2291852 NCBI chrNW_004955414:33,154,812...33,193,769
Ensembl chrNW_004955414:33,154,812...33,193,769
JBrowse link
cervix uteri carcinoma in situ term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adam9 ADAM metallopeptidase domain 9 ISO protein:increased expression:uterine cervix RGD PMID:19473694 RGD:2325246 NCBI chrNW_004955463:14,545,425...14,646,498
Ensembl chrNW_004955463:14,545,589...14,645,419
JBrowse link
G Bcl2 BCL2 apoptosis regulator disease_progression ISO protein:increased expression:uterine cervix RGD PMID:18561741 RGD:2298889 NCBI chrNW_004955402:46,911,125...47,084,214
Ensembl chrNW_004955402:46,916,266...47,084,485
JBrowse link
G Brca1 BRCA1 DNA repair associated ISO DNA:deletions:exon RGD PMID:10442317 RGD:2298942 NCBI chrNW_004955451:16,819,463...16,870,780
Ensembl chrNW_004955451:16,819,023...16,855,528
JBrowse link
G Cadm1 cell adhesion molecule 1 severity ISO RGD PMID:17009984 RGD:2289089 NCBI chrNW_004955412:16,673,401...17,005,082
Ensembl chrNW_004955412:16,669,099...17,005,014
JBrowse link
G Ccnd1 cyclin D1 ISO protein:increased expression:uterine cervix RGD PMID:18301453 RGD:2293574 NCBI chrNW_004955422:16,449,921...16,462,676
Ensembl chrNW_004955422:16,448,770...16,463,300
JBrowse link
G Ccne1 cyclin E1 ISO protein:increased expression:uterine cervix RGD PMID:18301453 RGD:2293574 NCBI chrNW_004955468:7,803,610...7,814,872
Ensembl chrNW_004955468:7,803,346...7,814,872
JBrowse link
G Ccng1 cyclin G1 ISO protein:increased expression:uterine cervix RGD PMID:16845792 RGD:2316022 NCBI chrNW_004955408:16,846,050...16,850,365 JBrowse link
G Cd274 CD274 molecule severity ISO associated with Papillomavirus Infections; protein:increased expression:dendritic cell RGD PMID:23521696 RGD:40822817 NCBI chrNW_004955434:9,487,309...9,508,366
Ensembl chrNW_004955434:9,487,315...9,505,904
JBrowse link
G Cd46 CD46 molecule ISO protein:increased expression:uterine cervix RGD PMID:9358772 RGD:2293549 NCBI chrNW_004955406:43,002,817...43,034,555 JBrowse link
G Cdh1 cadherin 1 ISO DNA:hypermethylation:uterine cervix RGD PMID:17894941 RGD:2289490 NCBI chrNW_004955484:7,782,409...7,861,082
Ensembl chrNW_004955484:7,782,772...7,860,967
JBrowse link
G Cdk4 cyclin dependent kinase 4 disease_progression ISO associated with Papillomavirus Infections;protein:increased expression:cervix epithelium RGD PMID:18301453 RGD:2293574 NCBI chrNW_004955458:5,457,927...5,460,718
Ensembl chrNW_004955458:5,453,732...5,460,718
JBrowse link
G Cdkn1a cyclin dependent kinase inhibitor 1A ISO protein:increased expression:epithelial cell: RGD PMID:9546362 RGD:8662446 NCBI chrNW_004955437:6,254,638...6,261,278
Ensembl chrNW_004955437:6,254,309...6,261,479
JBrowse link
G Cdkn1b cyclin dependent kinase inhibitor 1B disease_progression ISO associated with Papillomavirus Infections;protein:decreased expression:cervical epithelium RGD PMID:18301453 RGD:2293574 NCBI chrNW_004955413:9,615,542...9,620,542
Ensembl chrNW_004955413:9,615,542...9,620,542
JBrowse link
G Cdkn2b cyclin dependent kinase inhibitor 2B ISO protein:increased expression:uterine cervix RGD PMID:17632454 RGD:2289695 NCBI chrNW_004955472:12,275,613...12,280,141
Ensembl chrNW_004955472:12,275,544...12,280,528
JBrowse link
G Csf1r colony stimulating factor 1 receptor disease_progression ISO protein:increased expression:uterine cervix RGD PMID:18565574 RGD:2299119 NCBI chrNW_004955415:4,434,486...4,462,505
Ensembl chrNW_004955415:4,434,453...4,461,751
JBrowse link
G Ctnna1 catenin alpha 1 disease_progression ISO protein:decreased expression:uterine cervix RGD PMID:11161853 RGD:2289797 NCBI chrNW_004955418:1,592,555...1,754,423
Ensembl chrNW_004955418:1,592,229...1,754,689
JBrowse link
G Dlg1 discs large MAGUK scaffold protein 1 ISO protein:decreased expression:cervical lesions:targetted by the HPV oncoprotein E6 for ubiquitin-mediated proteolysis RGD PMID:15221964 RGD:2306812 NCBI chrNW_004955420:13,068,289...13,273,805
Ensembl chrNW_004955420:13,068,289...13,273,805
JBrowse link
G Faslg Fas ligand ISO associated with Papillomavirus Infections RGD PMID:17433060 RGD:2290052 NCBI chrNW_004955406:13,098,479...13,107,045
Ensembl chrNW_004955406:13,098,662...13,107,389
JBrowse link
G Hdac1 histone deacetylase 1 ISO protein:increased expression:uterine cervix RGD PMID:19147762 RGD:2306200 NCBI chrNW_004955452:10,636,366...10,668,873
Ensembl chrNW_004955452:10,636,366...10,670,864
JBrowse link
G Hdac2 histone deacetylase 2 ISO protein:increased expression:uterine cervix RGD PMID:19147762 RGD:2306200 NCBI chrNW_004955526:2,739,099...2,759,640
Ensembl chrNW_004955526:2,728,377...2,759,707
JBrowse link
G Hdac6 histone deacetylase 6 ISO protein:increased expression:uterine cervix RGD PMID:19147762 RGD:2306200 NCBI chrNW_004955543:348,314...378,391
Ensembl chrNW_004955543:348,019...378,071
JBrowse link
G Igfbp3 insulin like growth factor binding protein 3 ISO protein:decreased expression:serum:significantly decreased (p<0.0001), levels inversely associated with serum IGF-II levels (p<0.01)
mRNA:decreased expression:tumor:significant decrease in cancer relative to controls (P=0.03)
RGD PMID:14675666 PMID:17709267 RGD:2290004 RGD:2290021 NCBI chrNW_004955456:6,795,560...6,802,147
Ensembl chrNW_004955456:6,795,604...6,800,845
JBrowse link
G Il1b interleukin 1 beta susceptibility ISO associated with Papillomavirus Infections;DNA:SNP:promoter: -511 C>T (rs16944)(human) RGD PMID:25893807 RGD:36174015 NCBI chrNW_004955470:1,486,936...1,491,888
Ensembl chrNW_004955470:1,486,967...1,491,947
JBrowse link
G Mgp matrix Gla protein ISO RGD PMID:17960611 RGD:2293584 NCBI chrNW_004955413:11,614,851...11,618,090
Ensembl chrNW_004955413:11,615,078...11,618,024
JBrowse link
G Mlh1 mutL homolog 1 ISO protein:increased expression:uterine cervix RGD PMID:15807307 RGD:2293515 NCBI chrNW_004955421:3,890,291...3,936,892
Ensembl chrNW_004955421:3,890,306...3,936,526
JBrowse link
G Mmp2 matrix metallopeptidase 2 disease_progression ISO protein:increased expression:uterine cervix RGD PMID:16619570 RGD:2290402 NCBI chrNW_004955433:13,024,844...13,050,041
Ensembl chrNW_004955433:13,024,418...13,052,775
JBrowse link
G Msh2 mutS homolog 2 ISO protein:increased expression:uterine cervix RGD PMID:15807307 RGD:2293515 NCBI chrNW_004955441:14,188,315...14,247,608
Ensembl chrNW_004955441:14,187,805...14,247,698
JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17303386 NCBI chrNW_004955486:2,096,379...2,112,240
Ensembl chrNW_004955486:2,096,379...2,112,240
JBrowse link
G Pdcd1 programmed cell death 1 severity ISO associated with Papillomavirus Infections; protein:increased expression:T cell RGD PMID:23521696 RGD:40822817 NCBI chrNW_004955542:49,290...57,747
Ensembl chrNW_004955542:49,259...58,823
JBrowse link
G Phb prohibitin ISO protein:increased expression:uterine cervix RGD PMID:16426920 RGD:2292398 NCBI chrNW_004955451:12,110,290...12,119,870
Ensembl chrNW_004955451:12,110,290...12,120,124
JBrowse link
G Pou4f1 POU class 4 homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20190800 NCBI chrNW_004955404:28,812,762...28,818,024 JBrowse link
G Pten phosphatase and tensin homolog ISO protein:decreased expression:uterine cervix RGD PMID:17672936 RGD:2298701 NCBI chrNW_004955425:5,007,811...5,091,829
Ensembl chrNW_004955425:5,014,147...5,091,829
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 disease_progression ISO protein:increased expression:uterine cervix, epithelial cell RGD PMID:18565574 RGD:2299119 NCBI chrNW_004955406:25,077,988...25,086,259
Ensembl chrNW_004955406:25,079,945...25,086,171
JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO associated with Adenocarcinoma RGD PMID:18234283 RGD:2299896 NCBI chrNW_004955431:1,960,765...2,124,576
Ensembl chrNW_004955431:1,960,661...2,124,576
JBrowse link
G Rela RELA proto-oncogene, NF-kB subunit disease_progression ISO protein:altered localization, increased expression:nucleus, uterine cervix RGD PMID:16850495 RGD:2298759 NCBI chrNW_004955422:19,602,930...19,612,263
Ensembl chrNW_004955422:19,603,345...19,611,516
JBrowse link
G Skp2 S-phase kinase associated protein 2 severity ISO associated with Papillomavirus Infections RGD PMID:19094580 RGD:2315036 NCBI chrNW_004955426:20,972,663...20,999,769
Ensembl chrNW_004955426:20,972,663...20,999,769
JBrowse link
G Srsf1 serine and arginine rich splicing factor 1 disease_progression ISO associated with Papillomavirus Infections;protein:altered expression:uterine cervix (human) RGD PMID:19718710 RGD:11039410 NCBI chrNW_004955451:4,992,634...4,996,619
Ensembl chrNW_004955451:4,992,634...4,999,029
JBrowse link
G Stat3 signal transducer and activator of transcription 3 disease_progression ISO protein:increased expression:nucleus
protein:increased serine phosphorylation:cervix epithelium
RGD PMID:16005944 PMID:17110342 RGD:2291916 RGD:2298536 NCBI chrNW_004955451:16,320,326...16,348,505
Ensembl chrNW_004955451:16,319,904...16,357,687
JBrowse link
G Tert telomerase reverse transcriptase disease_progression ISO protein:increased expression:uterine cervix RGD PMID:17644806 RGD:2291985 NCBI chrNW_004955504:649,248...669,796
Ensembl chrNW_004955504:651,779...670,589
JBrowse link
G Thrb thyroid hormone receptor beta ISO DNA:loss of heterozygosity (human) RGD PMID:11483913 RGD:2315099 NCBI chrNW_004955430:15,992,146...16,322,696
Ensembl chrNW_004955430:15,992,146...16,323,238
JBrowse link
G Tlr9 toll like receptor 9 disease_progression ISO protein:increased expression:tumor:expression increases with the histopathological grade (p<0.001) RGD PMID:17440926 RGD:2301099 NCBI chrNW_004955532:3,828,645...3,832,699 JBrowse link
G Top2a DNA topoisomerase II alpha ISO RGD PMID:19051821 RGD:2315126 NCBI chrNW_004955451:14,928,273...14,964,855
Ensembl chrNW_004955451:14,929,136...14,964,723
JBrowse link
G Tp63 tumor protein p63 disease_progression ISO RGD PMID:16804722 RGD:2315435 NCBI chrNW_004955420:18,178,639...18,384,786
Ensembl chrNW_004955420:18,176,155...18,384,786
JBrowse link
G Tp73 tumor protein p73 disease_progression ISO mRNA:increased expression:uterine cervix RGD PMID:11870517 RGD:2290589 NCBI chrNW_004955486:7,914,608...7,961,992
Ensembl chrNW_004955486:7,914,440...7,952,982
JBrowse link
G Vegfa vascular endothelial growth factor A ISO protein:increased expression:uterine cervix RGD PMID:19723043 RGD:2315456 NCBI chrNW_004955437:9,527,445...9,541,908 JBrowse link
G Xiap X-linked inhibitor of apoptosis ISO protein:increased expression:uterine cervix RGD PMID:18325467 RGD:2315850 NCBI chrNW_004955473:10,823,795...10,878,256
Ensembl chrNW_004955473:10,827,435...10,840,604
JBrowse link
chlamydia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd40 CD40 molecule ISO RGD PMID:20102413 RGD:5132268 NCBI chrNW_004955445:11,191,817...11,202,156
Ensembl chrNW_004955445:11,190,603...11,202,093
JBrowse link
G Foxp3 forkhead box P3 treatment ISO RGD PMID:30832593 RGD:38455984 NCBI chrNW_004955543:731,707...742,606
Ensembl chrNW_004955543:731,707...742,606
JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO mRNA:increased expression:lung (mouse) RGD PMID:19728926 RGD:4145507 NCBI chrNW_004955495:1,561,464...1,573,282
Ensembl chrNW_004955495:1,561,714...1,574,755
JBrowse link
G Ido1 indoleamine 2,3-dioxygenase 1 treatment ISO mRNA:increased expression:lung (mouse) RGD PMID:30832593 PMID:31249813 RGD:38455984 RGD:39938856 NCBI chrNW_004955536:2,944,770...2,955,829
Ensembl chrNW_004955536:2,943,611...2,955,829
JBrowse link
G Ifng interferon gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:19203382 NCBI chrNW_004955458:14,643,333...14,648,020
Ensembl chrNW_004955458:14,643,313...14,648,045
JBrowse link
G Il13 interleukin 13 ISO RGD PMID:21573182 RGD:5684365 NCBI chrNW_004955408:4,046,406...4,049,795 JBrowse link
G Il17a interleukin 17A ISO associated with Bronchial Hyprractivity; mRNA:increased expression:lung RGD PMID:19812198 PMID:20228193 RGD:4888528 RGD:4889101 NCBI chrNW_004955411:5,896,435...5,899,911
Ensembl chrNW_004955411:5,896,702...5,900,962
JBrowse link
G Tgfb1 transforming growth factor beta 1 treatment ISO RGD PMID:30832593 RGD:38455984 NCBI chrNW_004955555:274,405...288,441
Ensembl chrNW_004955555:270,652...288,441
JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19203382 NCBI chrNW_004955437:117,267...119,899
Ensembl chrNW_004955437:117,206...120,700
JBrowse link
Chlamydia pneumonia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd274 CD274 molecule ISO mRNA:increased expression:lung RGD PMID:26378990 RGD:41412180 NCBI chrNW_004955434:9,487,309...9,508,366
Ensembl chrNW_004955434:9,487,315...9,505,904
JBrowse link
G Pdcd1 programmed cell death 1 ISO mRNA:increased expression:lung RGD PMID:26378990 RGD:41412180 NCBI chrNW_004955542:49,290...57,747
Ensembl chrNW_004955542:49,259...58,823
JBrowse link
G Pik3cd phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta severity ISO RGD PMID:29893841 RGD:40890270 NCBI chrNW_004955486:3,813,923...3,837,563
Ensembl chrNW_004955486:3,813,923...3,838,119
JBrowse link
chorioamnionitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ager advanced glycosylation end-product specific receptor ISO RGD PMID:22578261 RGD:6767308 NCBI chrNW_004955437:645,482...648,607
Ensembl chrNW_004955437:645,897...648,479
JBrowse link
G Fas Fas cell surface death receptor ISO protein:increased expression:villous trophoblast RGD PMID:12700199 RGD:12904022 NCBI chrNW_004955425:3,961,671...3,987,513
Ensembl chrNW_004955425:3,961,013...3,987,455
JBrowse link
G Il1a interleukin 1 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:21493953 NCBI chrNW_004955470:1,527,710...1,538,418
Ensembl chrNW_004955470:1,527,674...1,538,466
JBrowse link
G Il6 interleukin 6 ISO associated with Premature Birth;protein:increased expression:tracheal aspirate fluid:
protein:increased expression: cervicovaginal fluid :
protein:increased expression:plasma
RGD PMID:15547537 PMID:25011638 PMID:25687566 RGD:12791291 RGD:12792243 RGD:5128667 NCBI chrNW_004955410:25,079,835...25,084,390 JBrowse link
G Lta lymphotoxin alpha severity ISO associated with Premature Birth;DNA:SNP:promoter:250G>A (human) RGD PMID:15128916 RGD:12904055 NCBI chrNW_004955437:114,216...116,003
Ensembl chrNW_004955437:114,640...115,529
JBrowse link
G Mbl2 mannose binding lectin 2 susceptibility ISO DNA:polymorphism:exon:p.G54D(human) RGD PMID:15723707 RGD:12910932 NCBI chrNW_004955425:7,704,371...7,708,951
Ensembl chrNW_004955425:7,702,137...7,709,006
JBrowse link
G Mmp9 matrix metallopeptidase 9 severity ISO protein:increased expression:respiratory system fluid/secretion RGD PMID:12712078 RGD:13204828 NCBI chrNW_004955445:11,295,500...11,303,322
Ensembl chrNW_004955445:11,295,448...11,303,288
JBrowse link
G Tgfb1 transforming growth factor beta 1 severity ISO protein:increased expression:amniotic fluid RGD PMID:19332995 RGD:4145137 NCBI chrNW_004955555:274,405...288,441
Ensembl chrNW_004955555:270,652...288,441
JBrowse link
G Tnf tumor necrosis factor severity
no_association
ISO associated with Premature Birth;DNA:SNP:promoter:c.-238G>A (human)
associated with Premature Birth;DNA:SNP:promoter:c.-308 G>A (human)
RGD PMID:15128916 RGD:12904055 NCBI chrNW_004955437:117,267...119,899
Ensembl chrNW_004955437:117,206...120,700
JBrowse link
choriocarcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgf8 fibroblast growth factor 8 ISO protein:increased expression:testicular germ cell neoplasms RGD PMID:11764380 RGD:2289339 NCBI chrNW_004955485:8,517,412...8,521,732
Ensembl chrNW_004955485:8,517,412...8,521,770
JBrowse link
G Igf2 insulin like growth factor 2 disease_progression ISO protein:increased expression:tumor:elevated IGF-II increased choriocarcinoma cell invasion via activation of INSR RGD PMID:17556377 RGD:2290454 NCBI chrNW_004955422:13,880,525...13,907,963
Ensembl chrNW_004955422:13,880,471...13,888,566
JBrowse link
G Insr insulin receptor disease_progression ISO protein:increased activity:tumor:IGF-II increased choriocarcinoma cell invasion via activation of INSR RGD PMID:17556377 RGD:2290454 NCBI chrNW_004955563:1,867,400...2,011,845
Ensembl chrNW_004955563:1,867,400...2,009,149
JBrowse link
G Pdgfb platelet derived growth factor subunit B ISO mRNA:increased expression:mononuclear cytotrophoblast cell RGD PMID:8504434 RGD:2292200 NCBI chrNW_004955413:25,150,702...25,166,987
Ensembl chrNW_004955413:25,148,062...25,166,987
JBrowse link
G Pdgfrb platelet derived growth factor receptor beta ISO mRNA:increased expression:mononuclear cytotrophoblast cell RGD PMID:8504434 RGD:2292200 NCBI chrNW_004955415:4,365,848...4,403,317
Ensembl chrNW_004955415:4,365,743...4,403,587
JBrowse link
G Timp3 TIMP metallopeptidase inhibitor 3 ISO DNA, protein:hypermethylation, decreased expression:promoter, placenta RGD PMID:15507671 RGD:2290418 NCBI chrNW_004955405:41,613,976...41,655,813
Ensembl chrNW_004955405:41,613,966...41,655,813
JBrowse link
congenital bilateral absence of 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 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004955586:359,573...477,277
Ensembl chrNW_004955586:359,567...479,325
JBrowse link
G Cftr CF transmembrane conductance regulator ISO associated with Cystic Fibrosis
CTD Direct Evidence: marker/mechanism
DNA:deletion, missense mutations: :multiple
DNA:deletion, nonsense mutations, missense mutations: :multiple
RGD
CTD
PMID:10653141 PMID:10875853 PMID:11119745 PMID:24608905 RGD:11566027 RGD:11566040 RGD:11566051 NCBI chrNW_004955432:23,179,645...23,328,347
Ensembl chrNW_004955432:23,178,866...23,328,382
JBrowse link
congenital diaphragmatic hernia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agtr2 angiotensin II receptor type 2 ISO RGD PMID:22113494 RGD:6903875 NCBI chrNW_004955534:3,653,112...3,654,248
Ensembl chrNW_004955534:3,653,157...3,654,248
JBrowse link
G Atp7a ATPase copper transporting alpha ISO mRNA, protein:decreased expression:diaphragm (rat) RGD PMID:25319798 RGD:11341670 NCBI chrNW_004955557:1,355,471...1,515,725
Ensembl chrNW_004955557:1,355,397...1,515,393
JBrowse link
G Bmp4 bone morphogenetic protein 4 ISO mRNA:decreased expression:heart: RGD PMID:18280291 RGD:9068407 NCBI chrNW_004955409:9,432,835...9,439,680
Ensembl chrNW_004955409:9,432,841...9,440,303
JBrowse link
G Cbl Cbl proto-oncogene ISO mRNA,protein:decreased expression, hypophosphorylation:lung, alveolar epithelium: RGD PMID:23143077 RGD:11038813 NCBI chrNW_004955412:20,307,011...20,388,539
Ensembl chrNW_004955412:20,307,011...20,388,539
JBrowse link
G Ccn2 cellular communication network factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20939759 PMID:21258935 NCBI chrNW_004955436:12,523,602...12,526,986
Ensembl chrNW_004955436:12,522,944...12,526,480
JBrowse link
G Cdk8 cyclin dependent kinase 8 ISO ClinVar Annotator: match by term: DIH ClinVar PMID:25741868 NCBI chrNW_004955497:5,781,237...5,908,072
Ensembl chrNW_004955497:5,781,237...5,908,374
JBrowse link
G Des desmin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital diaphragmatic hernia
CTD
ClinVar
PMID:14724127 PMID:15477095 PMID:16217025 PMID:16519886 PMID:16828798 More... NCBI chrNW_004955453:14,039,502...14,046,572
Ensembl chrNW_004955453:14,039,502...14,047,246
JBrowse link
G Eln elastin ISO mRNA,protein:increased expression:lung: RGD PMID:12194112 RGD:9585688 NCBI chrNW_004955456:13,788,992...13,818,836 JBrowse link
G Ep300 E1A binding protein p300 ISO mRNA:decreased expression:lung RGD PMID:24488106 RGD:9588310 NCBI chrNW_004955413:26,647,553...26,727,875
Ensembl chrNW_004955413:26,648,339...26,727,933
JBrowse link
G Epo erythropoietin ISO CTD Direct Evidence: marker/mechanism CTD PMID:27880037 NCBI chrNW_004955573:203,875...206,078
Ensembl chrNW_004955573:203,441...206,355
JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Congenital diaphragmatic hernia ClinVar PMID:23806086 PMID:24088041 PMID:25736269 NCBI chrNW_004955409:5,281,603...5,502,547
Ensembl chrNW_004955409:5,281,603...5,504,761
JBrowse link
G Fgfrl1 fibroblast growth factor receptor like 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital diaphragmatic hernia
CTD
ClinVar
PMID:20938900 PMID:25741868 NCBI chrNW_004955514:499,526...509,208
Ensembl chrNW_004955514:497,573...509,811
JBrowse link
G Foxf1 forkhead box F1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27663689 NCBI chrNW_004955541:1,341,715...1,345,397
Ensembl chrNW_004955541:1,317,114...1,346,590
JBrowse link
G Fras1 Fraser extracellular matrix complex subunit 1 ISO ClinVar Annotator: match by term: Congenital diaphragmatic hernia ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955433:2,547,228...2,957,294
Ensembl chrNW_004955433:2,547,323...2,957,495
JBrowse link
G Frem1 FRAS1 related extracellular matrix 1 ISO mRNA,protein:decreased expression:diaphragm:
ClinVar Annotator: match by term: Congenital diaphragmatic hernia
DNA:deletion, frame shift:cds, splice junction:
CTD Direct Evidence: marker/mechanism
RGD
ClinVar
CTD
PMID:23221805 PMID:23806086 PMID:24088041 PMID:25736269 PMID:25741868 More... RGD:11554181 RGD:11554195 NCBI chrNW_004955434:17,754,002...17,901,416
Ensembl chrNW_004955434:17,753,925...17,901,407
JBrowse link
G Frem2 FRAS1 related extracellular matrix 2 ISO ClinVar Annotator: match by term: Congenital diaphragmatic hernia ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955431:7,364,937...7,541,419
Ensembl chrNW_004955431:7,364,937...7,541,648
JBrowse link
G Gata4 GATA binding protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23426975 NCBI chrNW_004955403:52,958,318...53,029,267
Ensembl chrNW_004955403:52,987,644...53,029,267
JBrowse link
G Gli3 GLI family zinc finger 3 ISO ClinVar Annotator: match by term: Congenital diaphragmatic hernia ClinVar NCBI chrNW_004955460:1,528,457...1,805,584
Ensembl chrNW_004955460:1,528,412...1,805,918
JBrowse link
G Igf1 insulin like growth factor 1 ISO mRNA:decreased expression:heart (rat) RGD PMID:11409163 RGD:12904929 NCBI chrNW_004955405:37,505,830...37,582,152
Ensembl chrNW_004955405:37,512,201...37,582,152
JBrowse link
G Igf1r insulin like growth factor 1 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20620343 PMID:21433279 NCBI chrNW_004955416:26,101,090...26,382,660
Ensembl chrNW_004955416:26,102,628...26,382,666
JBrowse link
G Igf2 insulin like growth factor 2 treatment ISO RGD PMID:24352370 RGD:10402563 NCBI chrNW_004955422:13,880,525...13,907,963
Ensembl chrNW_004955422:13,880,471...13,888,566
JBrowse link
G Igf2r insulin like growth factor 2 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20620343 PMID:21433279 NCBI chrNW_004955439:20,754,915...20,874,759
Ensembl chrNW_004955439:20,752,855...20,851,281
JBrowse link
G Igfbp3 insulin like growth factor binding protein 3 ISO RGD PMID:19844724 RGD:10402761 NCBI chrNW_004955456:6,795,560...6,802,147
Ensembl chrNW_004955456:6,795,604...6,800,845
JBrowse link
G Igfbp5 insulin like growth factor binding protein 5 ISO RGD PMID:19844724 RGD:10402761 NCBI chrNW_004955453:16,530,110...16,550,733
Ensembl chrNW_004955453:16,530,110...16,550,733
JBrowse link
G Insr insulin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21433279 NCBI chrNW_004955563:1,867,400...2,011,845
Ensembl chrNW_004955563:1,867,400...2,009,149
JBrowse link
G Kcnq5 potassium voltage-gated channel subfamily Q member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28189443 NCBI chrNW_004955488:7,406,633...7,928,526
Ensembl chrNW_004955488:7,406,635...7,927,532
JBrowse link
G Kif7 kinesin family member 7 ISO mRNA,protein:decreased expression:diaphragmatic mesenchyme, pulmonary mesenchyme; RGD PMID:25921351 RGD:11553839 NCBI chrNW_004955416:15,555,959...15,570,925
Ensembl chrNW_004955416:15,555,933...15,570,985
JBrowse link
G Lztr1 leucine zipper like transcription regulator 1 ISO ClinVar Annotator: match by term: Congenital diaphragmatic hernia ClinVar PMID:25741868 NCBI chrNW_004955442:19,315,427...19,333,361
Ensembl chrNW_004955442:19,315,427...19,333,522
JBrowse link
G Met MET proto-oncogene, receptor tyrosine kinase ISO ClinVar Annotator: match by term: Congenital diaphragmatic hernia ClinVar PMID:1104268 PMID:14559814 PMID:17483355 PMID:21970370 PMID:22703879 More... NCBI chrNW_004955432:22,440,671...22,519,592
Ensembl chrNW_004955432:22,440,637...22,517,647
JBrowse link
G Mn1 MN1 proto-oncogene, transcriptional regulator ISO ClinVar Annotator: match by term: DIH ClinVar PMID:25741868 PMID:31834374 NCBI chrNW_004955455:2,130,104...2,171,868
Ensembl chrNW_004955455:2,127,377...2,171,850
JBrowse link
G Myod1 myogenic differentiation 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21258934 NCBI chrNW_004955414:32,523,959...32,526,575
Ensembl chrNW_004955414:32,523,924...32,526,674
JBrowse link
G Nos3 nitric oxide synthase 3 ISO protein:decreased expression:pulmonary artery (rat) RGD PMID:29216632 RGD:13504720 NCBI chrNW_004955491:5,438,228...5,457,308
Ensembl chrNW_004955491:5,438,010...5,460,814
JBrowse link
G Pax3 paired box 3 ISO ClinVar Annotator: match by term: Congenital diaphragmatic hernia ClinVar PMID:8589691 PMID:8863157 PMID:9584079 PMID:9856573 PMID:23806086 More... NCBI chrNW_004955453:11,463,407...11,558,001
Ensembl chrNW_004955453:11,463,379...11,558,006
JBrowse link
G Pim1 Pim-1 proto-oncogene, serine/threonine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:25812446 NCBI chrNW_004955437:5,940,825...5,945,367
Ensembl chrNW_004955437:5,942,106...5,945,431
JBrowse link
G Rhoa ras homolog family member A ISO CTD Direct Evidence: marker/mechanism CTD PMID:25783350 NCBI chrNW_004955532:1,300,821...1,347,453
Ensembl chrNW_004955532:1,300,462...1,347,451
JBrowse link
G Robo4 roundabout guidance receptor 4 ISO ClinVar Annotator: match by term: Congenital diaphragmatic hernia ClinVar NCBI chrNW_004955412:25,954,906...25,967,707
Ensembl chrNW_004955412:25,954,085...25,967,723
JBrowse link
G Sod1 superoxide dismutase 1 ISO mRNA:decreased expression:lung RGD PMID:26534761 RGD:11035301 NCBI chrNW_004955407:31,261,451...31,267,657
Ensembl chrNW_004955407:31,263,863...31,267,727
JBrowse link
G Sod2 superoxide dismutase 2 ISO mRNA:decreased expression:lung RGD PMID:26534761 RGD:11035301 NCBI chrNW_004955439:21,209,101...21,223,538
Ensembl chrNW_004955439:21,209,101...21,224,163
JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25812446 NCBI chrNW_004955451:16,320,326...16,348,505
Ensembl chrNW_004955451:16,319,904...16,357,687
JBrowse link
G Tnf tumor necrosis factor ISO RGD PMID:10541330 RGD:12904053 NCBI chrNW_004955437:117,267...119,899
Ensembl chrNW_004955437:117,206...120,700
JBrowse link
G Vegfa vascular endothelial growth factor A ISO protein:decreased expression:lung: RGD PMID:15879288 RGD:7421593 NCBI chrNW_004955437:9,527,445...9,541,908 JBrowse link
G Wnt11 Wnt family member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25783350 NCBI chrNW_004955414:15,674,478...15,694,758
Ensembl chrNW_004955414:15,674,940...15,694,883
JBrowse link
G Wt1 WT1 transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21072664 NCBI chrNW_004955476:10,464,688...10,504,473
Ensembl chrNW_004955476:10,464,616...10,504,473
JBrowse link
CRYPTOZOOSPERMIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G M1ap meiosis 1 associated protein ISO ClinVar Annotator: match by term: Cryptozoospermia ClinVar PMID:25741868 PMID:32673564 NCBI chrNW_004955424:11,155,239...11,232,880
Ensembl chrNW_004955424:11,157,812...11,232,677
JBrowse link
G Sycp2 synaptonemal complex protein 2 ISO ClinVar Annotator: match by term: Cryptozoospermia ClinVar PMID:25741868 PMID:31866047 NCBI chrNW_004955528:3,809,438...3,887,055
Ensembl chrNW_004955528:3,809,438...3,886,312
JBrowse link
G Trim71 tripartite motif containing 71 ISO ClinVar Annotator: match by term: Cryptozoospermia ClinVar PMID:25741868 NCBI chrNW_004955421:97,130...174,326
Ensembl chrNW_004955421:97,772...168,432
JBrowse link
Diaphragmatic Hernia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agt angiotensinogen ISO CTD Direct Evidence: marker/mechanism CTD PMID:16292651 NCBI chrNW_004955492:7,863,662...7,874,863
Ensembl chrNW_004955492:7,866,833...7,873,357
JBrowse link
G Aqp5 aquaporin 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17245593 PMID:17270560 NCBI chrNW_004955547:558,296...562,455
Ensembl chrNW_004955547:558,927...564,376
JBrowse link
G Bmp4 bone morphogenetic protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18280291 NCBI chrNW_004955409:9,432,835...9,439,680
Ensembl chrNW_004955409:9,432,841...9,440,303
JBrowse link
G Cdk8 cyclin dependent kinase 8 ISO ClinVar Annotator: match by term: Diaphragmatic hernia ClinVar PMID:25741868 NCBI chrNW_004955497:5,781,237...5,908,072
Ensembl chrNW_004955497:5,781,237...5,908,374
JBrowse link
G Cftr CF transmembrane conductance regulator ISO CTD Direct Evidence: therapeutic CTD PMID:16473863 NCBI chrNW_004955432:23,179,645...23,328,347
Ensembl chrNW_004955432:23,178,866...23,328,382
JBrowse link
G Edn1 endothelin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9473106 PMID:10693666 NCBI chrNW_004955465:2,287,906...2,314,945
Ensembl chrNW_004955465:2,287,798...2,314,753
JBrowse link
G Ednra endothelin receptor type A ISO CTD Direct Evidence: marker/mechanism CTD PMID:9473106 PMID:10693666 NCBI chrNW_004955428:3,062,303...3,114,761
Ensembl chrNW_004955428:3,062,303...3,114,761
JBrowse link
G Ednrb endothelin receptor type B ISO CTD Direct Evidence: marker/mechanism CTD PMID:10693666 NCBI chrNW_004955404:29,394,253...29,425,358
Ensembl chrNW_004955404:29,394,164...29,425,358
JBrowse link
G Eln elastin ISO CTD Direct Evidence: marker/mechanism CTD PMID:10359170 NCBI chrNW_004955456:13,788,992...13,818,836 JBrowse link
G Fgf18 fibroblast growth factor 18 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17303798 NCBI chrNW_004955408:24,225,459...24,260,057
Ensembl chrNW_004955408:24,225,459...24,260,092
JBrowse link
G Fgf2 fibroblast growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10646786 NCBI chrNW_004955428:17,840,554...17,894,779
Ensembl chrNW_004955428:17,840,628...17,894,773
JBrowse link
G Foxa2 forkhead box A2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16863852 NCBI chrNW_004955415:29,982,940...29,987,093
Ensembl chrNW_004955415:29,982,940...29,986,255
JBrowse link
G Gata4 GATA binding protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18280291 NCBI chrNW_004955403:52,958,318...53,029,267
Ensembl chrNW_004955403:52,987,644...53,029,267
JBrowse link
G Gja1 gap junction protein alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16292552 PMID:16720372 NCBI chrNW_004955436:3,612,533...3,618,095
Ensembl chrNW_004955436:3,612,533...3,618,095
JBrowse link
G Hoxa5 homeobox A5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18351244 NCBI chrNW_004955410:28,835,795...28,838,244
Ensembl chrNW_004955410:28,834,127...28,838,244
JBrowse link
G Hoxb3 homeobox B3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18351244 NCBI chrNW_004955451:12,651,229...12,690,941
Ensembl chrNW_004955451:12,687,364...12,689,511
JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12759764 PMID:17245593 NCBI chrNW_004955495:1,561,464...1,573,282
Ensembl chrNW_004955495:1,561,714...1,574,755
JBrowse link
G Igf1 insulin like growth factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10370016 NCBI chrNW_004955405:37,505,830...37,582,152
Ensembl chrNW_004955405:37,512,201...37,582,152
JBrowse link
G Igf2 insulin like growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10370016 NCBI chrNW_004955422:13,880,525...13,907,963
Ensembl chrNW_004955422:13,880,471...13,888,566
JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18500730 NCBI chrNW_004955410:25,079,835...25,084,390 JBrowse link
G Kcna2 potassium voltage-gated channel subfamily A member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15088113 NCBI chrNW_004955435:14,074,346...14,080,026
Ensembl chrNW_004955435:14,074,346...14,078,806
JBrowse link
G Kcnb1 potassium voltage-gated channel subfamily B member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15088113 NCBI chrNW_004955445:8,680,979...8,779,662
Ensembl chrNW_004955445:8,680,965...8,774,110
JBrowse link
G Kcnma1 potassium calcium-activated channel subfamily M alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15088113 NCBI chrNW_004955437:14,749,808...15,457,274
Ensembl chrNW_004955437:14,749,914...15,454,028
JBrowse link
G Lrp2 LDL receptor related protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17632512 NCBI chrNW_004955449:5,155,109...5,314,886
Ensembl chrNW_004955449:5,160,946...5,314,948
JBrowse link
G Mn1 MN1 proto-oncogene, transcriptional regulator ISO ClinVar Annotator: match by term: Diaphragmatic hernia ClinVar PMID:25741868 PMID:31834374 NCBI chrNW_004955455:2,130,104...2,171,868
Ensembl chrNW_004955455:2,127,377...2,171,850
JBrowse link
G Myod1 myogenic differentiation 1 ISO mRNA:decreased expression:diaphragm RGD PMID:21258934 RGD:9686080 NCBI chrNW_004955414:32,523,959...32,526,575
Ensembl chrNW_004955414:32,523,924...32,526,674
JBrowse link
G Nkx2-1 NK2 homeobox 1 ISO mRNA, protein:increased expression:lung
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:10830305 PMID:16863852 PMID:17245593 RGD:1600158 NCBI chrNW_004955409:24,612,490...24,616,360
Ensembl chrNW_004955409:24,612,635...24,616,430
JBrowse link
G Nos3 nitric oxide synthase 3 ISO mRNA, protein:decreased expression:lung
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:7576705 PMID:8863223 RGD:5132862 NCBI chrNW_004955491:5,438,228...5,457,308
Ensembl chrNW_004955491:5,438,010...5,460,814
JBrowse link
G Nppa natriuretic peptide A ISO CTD Direct Evidence: marker/mechanism CTD PMID:11584395 NCBI chrNW_004955486:2,061,196...2,062,805
Ensembl chrNW_004955486:2,060,735...2,063,003
JBrowse link
G Nr2f2 nuclear receptor subfamily 2 group F member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17436238 NCBI chrNW_004955416:24,148,052...24,154,406
Ensembl chrNW_004955416:24,141,888...24,168,585
JBrowse link
G Pax3 paired box 3 ISO mRNA:decreased expression:heart (rat) RGD PMID:15616818 RGD:1580942 NCBI chrNW_004955453:11,463,407...11,558,001
Ensembl chrNW_004955453:11,463,379...11,558,006
JBrowse link
G Rxra retinoid X receptor alpha ISO mRNA:increased expression:lung RGD PMID:17270546 RGD:1643107 NCBI chrNW_004955513:3,313,544...3,386,544
Ensembl chrNW_004955513:3,335,897...3,386,994
JBrowse link
G Sftpb surfactant protein B ISO CTD Direct Evidence: marker/mechanism CTD PMID:10830305 PMID:16863852 NCBI chrNW_004955424:1,849,313...1,858,087
Ensembl chrNW_004955424:1,849,314...1,858,087
JBrowse link
G Sftpc surfactant protein C ISO CTD Direct Evidence: marker/mechanism CTD PMID:10751355 NCBI chrNW_004955403:45,649,149...45,651,421
Ensembl chrNW_004955403:45,649,122...45,651,837
JBrowse link
G Slit3 slit guidance ligand 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17436238 NCBI chrNW_004955408:21,719,487...22,322,958
Ensembl chrNW_004955408:21,722,632...22,322,917
JBrowse link
G Stra6 signaling receptor and transporter of retinol STRA6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17273977 NCBI chrNW_004955450:3,579,081...3,602,538
Ensembl chrNW_004955450:3,580,662...3,602,600
JBrowse link
G Tgfb1 transforming growth factor beta 1 ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:lung
CTD
RGD
PMID:10646786 PMID:19635314 RGD:4145129 NCBI chrNW_004955555:274,405...288,441
Ensembl chrNW_004955555:270,652...288,441
JBrowse link
G Thra thyroid hormone receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:11685700 NCBI chrNW_004955451:14,731,746...14,743,545
Ensembl chrNW_004955451:14,731,746...14,744,367
JBrowse link
G Thrb thyroid hormone receptor beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:11685700 NCBI chrNW_004955430:15,992,146...16,322,696
Ensembl chrNW_004955430:15,992,146...16,323,238
JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:10541330 NCBI chrNW_004955437:117,267...119,899
Ensembl chrNW_004955437:117,206...120,700
JBrowse link
G Uchl1 ubiquitin C-terminal hydrolase L1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18958481 NCBI chrNW_004955443:6,367,519...6,379,638
Ensembl chrNW_004955443:6,367,460...6,380,462
JBrowse link
G Vcam1 vascular cell adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12759764 NCBI chrNW_004955435:5,390,745...5,410,025
Ensembl chrNW_004955435:5,390,751...5,411,691
JBrowse link
G Wt1 WT1 transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:17436238 NCBI chrNW_004955476:10,464,688...10,504,473
Ensembl chrNW_004955476:10,464,616...10,504,473
JBrowse link
G Zfpm2 zinc finger protein, FOG family member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17436238 NCBI chrNW_004955417:28,931,428...29,268,778
Ensembl chrNW_004955417:28,920,210...29,269,271
JBrowse link
Diaphragmatic Hernia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zfpm2 zinc finger protein, FOG family member 2 ISO OMIM NCBI chrNW_004955417:28,931,428...29,268,778
Ensembl chrNW_004955417:28,920,210...29,269,271
JBrowse link
Donnai-Barrow syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmbrd1 LMBR1 domain containing 1 ISO ClinVar Annotator: match by term: Donnai Barrow syndrome ClinVar PMID:19136951 PMID:25741868 PMID:28492532 NCBI chrNW_004955488:4,774,835...4,879,401
Ensembl chrNW_004955488:4,772,504...4,879,423
JBrowse link
G Lrp2 LDL receptor related protein 2 ISO OMIM NCBI chrNW_004955449:5,155,109...5,314,886
Ensembl chrNW_004955449:5,160,946...5,314,948
JBrowse link
dysgerminoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amhr2 anti-Mullerian hormone receptor type 2 ISO protein:increased expression:ovary RGD PMID:17988723 RGD:2315651 NCBI chrNW_004955458:693,434...703,026
Ensembl chrNW_004955458:694,055...702,778
JBrowse link
G Brca1 BRCA1 DNA repair associated ISO ClinVar Annotator: match by term: Dysgerminoma ClinVar PMID:9150151 PMID:11376024 PMID:16683254 PMID:18951446 PMID:19491284 More... NCBI chrNW_004955451:16,819,463...16,870,780
Ensembl chrNW_004955451:16,819,023...16,855,528
JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO associated with Acrocephalosyndactylia/Apert Syndrome (MeSH:D000168); DNA:transversion,duplication:cds:758C>G amino acid P253R, duplication of 10q26 resulting in one extra copy of FGFR2 RGD PMID:17243131 RGD:2289660 NCBI chrNW_004955551:2,321,190...2,427,000 JBrowse link
G Inha inhibin subunit alpha ISO protein:increased expression:tumor RGD PMID:11720904 RGD:2290380 NCBI chrNW_004955453:13,902,443...13,905,008
Ensembl chrNW_004955453:13,902,277...13,905,008
JBrowse link
G Kit KIT proto-oncogene, receptor tyrosine kinase ISO DNA:transversion:CDS:2467G>C, amino acid D816H
ClinVar Annotator: match by term: Dysgerminoma
RGD
ClinVar
PMID:7479840 PMID:7530509 PMID:7691885 PMID:8589724 PMID:9438854 More... RGD:2292181 NCBI chrNW_004955447:16,149,014...16,226,151
Ensembl chrNW_004955447:16,148,605...16,226,734
JBrowse link
G Pou5f1 POU class 5 homeobox 1 ISO RGD PMID:15371950 RGD:2292443 NCBI chrNW_004955583:995,707...1,003,202 JBrowse link
G Set SET nuclear proto-oncogene ISO ClinVar Annotator: match by term: Dysgerminoma ClinVar PMID:26822237 NCBI chrNW_004955570:1,104,447...1,117,682 JBrowse link
G St14 ST14 transmembrane serine protease matriptase ISO protein:increased expression:ovary RGD PMID:16439987 RGD:2315091 NCBI chrNW_004955412:31,091,313...31,129,050
Ensembl chrNW_004955412:31,090,504...31,129,050
JBrowse link
Encephalocele 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 ISO ClinVar Annotator: match by term: Encephalocele ClinVar PMID:25741868 PMID:26862157 PMID:31680349 NCBI chrNW_004955480:8,404,239...8,514,792
Ensembl chrNW_004955480:8,400,284...8,514,736
JBrowse link
G Cep290 centrosomal protein 290 ISO ClinVar Annotator: match by term: Occipital encephalocele
ClinVar Annotator: match by term: Encephalocele
ClinVar PMID:16909394 PMID:17345604 PMID:17564974 PMID:17705300 PMID:20683928 More... NCBI chrNW_004955405:25,533,037...25,607,021
Ensembl chrNW_004955405:25,533,525...25,606,212
JBrowse link
G Dnai3 dynein axonemal intermediate chain 3 ISO ClinVar Annotator: match by term: Occipital encephalocele ClinVar PMID:29285825 NCBI chrNW_004955423:8,870,877...8,928,070
Ensembl chrNW_004955423:8,870,602...8,928,743
JBrowse link
G Pibf1 progesterone immunomodulatory binding factor 1 ISO ClinVar Annotator: match by term: Cephalocele ClinVar PMID:25741868 PMID:26167768 PMID:30858804 PMID:31474318 NCBI chrNW_004955404:33,713,903...33,897,622
Ensembl chrNW_004955404:33,714,193...33,897,622
JBrowse link
G Rpgrip1l RPGRIP1 like ISO associated with Meckel Syndrome, Type 5;DNA:mutations:exons: RGD PMID:17558409 RGD:11073359 NCBI chrNW_004955433:11,321,504...11,423,981
Ensembl chrNW_004955433:11,322,590...11,424,569
JBrowse link
G Szt2 SZT2 subunit of KICSTOR complex ISO ClinVar Annotator: match by term: Encephalocele ClinVar PMID:23932106 PMID:25741868 PMID:28492532 PMID:31680349 NCBI chrNW_004955537:2,968,839...3,017,863
Ensembl chrNW_004955537:2,968,839...3,017,863
JBrowse link
endometrial adenocarcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Angpt1 angiopoietin 1 ISO protein:increased expression:endometrium epithelium RGD PMID:17295646 RGD:2293852 NCBI chrNW_004955417:30,199,508...30,386,695
Ensembl chrNW_004955417:30,198,842...30,386,266
JBrowse link
G Angpt2 angiopoietin 2 ISO protein:increased expression:endometrium epithelium RGD PMID:17295646 RGD:2293852 NCBI chrNW_004955403:54,139,823...54,193,740
Ensembl chrNW_004955403:54,139,823...54,195,032
JBrowse link
G Arid1a AT-rich interaction domain 1A treatment ISO human cell in mouse model RGD PMID:21900401 RGD:126725086 NCBI chrNW_004955452:6,068,631...6,120,759
Ensembl chrNW_004955452:6,068,631...6,120,759
JBrowse link
G Axin2 axin 2 ISO RGD PMID:11940574 RGD:13432156 NCBI chrNW_004955478:4,952,551...4,982,223
Ensembl chrNW_004955478:4,952,488...4,982,225
JBrowse link
G Bet1l Bet1 golgi vesicular membrane trafficking protein like disease_progression ISO RGD PMID:28654152 RGD:14394612 NCBI chrNW_004955476:11,833,595...11,836,411
Ensembl chrNW_004955476:11,833,595...11,836,411
JBrowse link
G Cd55 CD55 molecule (Cromer blood group) ISO RGD PMID:11506079 RGD:2326173 NCBI chrNW_004955406:42,773,368...42,796,205 JBrowse link
G Ebag9 estrogen receptor binding site associated antigen 9 ISO protein:increased expression:endometrium RGD PMID:16112719 RGD:2289850 NCBI chrNW_004955417:16,941,035...16,958,876
Ensembl chrNW_004955417:16,936,622...16,958,876
JBrowse link
G Foxo3 forkhead box O3 severity ISO associated with Obesity;protein:decreased expression:endometrium (human) RGD PMID:26045339 RGD:11530998 NCBI chrNW_004955411:33,655,958...33,770,829
Ensembl chrNW_004955411:33,655,958...33,770,829
JBrowse link
G Gpx3 glutathione peroxidase 3 ISO mRNA:decreased expression:endometrium (rat) RGD PMID:19426485 RGD:2312621 NCBI chrNW_004955408:2,622,162...2,629,088
Ensembl chrNW_004955408:2,622,741...2,629,032
JBrowse link
G Irf1 interferon regulatory factor 1 ISO DNA:deletions (rat) RGD PMID:19075038 RGD:5128782 NCBI chrNW_004955408:3,882,282...3,887,965
Ensembl chrNW_004955408:3,880,155...3,887,973
JBrowse link
G Jun Jun proto-oncogene, AP-1 transcription factor subunit no_association ISO protein, mRNA::endometrial epithelium and stroma:no correlation between expression and type of tissue or cancer stage or grade RGD PMID:10684716 RGD:2290482 NCBI chrNW_004955464:1,107,598...1,110,326 JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO DNA:point mutation:CDS:p.G12D, p.G12S, p.Q61H (rat) RGD PMID:10775052 RGD:1600499 NCBI chrNW_004955413:20,298,852...20,328,756
Ensembl chrNW_004955413:20,298,824...20,328,758
JBrowse link
G Mapk1 mitogen-activated protein kinase 1 treatment ISO human tumor in a mouse model
protein:decreased phosphorylation:endometrium (human)
RGD PMID:14760076 PMID:23402905 RGD:13703125 RGD:13703137 NCBI chrNW_004955442:17,284,232...17,380,026
Ensembl chrNW_004955442:17,284,232...17,380,020
JBrowse link
G Mapk3 mitogen-activated protein kinase 3 treatment ISO human tumor in a mouse model
protein:decreased phosphorylation:endometrium (human)
RGD PMID:14760076 PMID:23402905 RGD:13703125 RGD:13703137 NCBI chrNW_004955493:6,870,699...6,876,836
Ensembl chrNW_004955493:6,869,668...6,879,152
JBrowse link
G Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 ISO DNA:mutations:multiple (human) RGD PMID:21478295 RGD:13441595 NCBI chrNW_004955446:1,020,707...1,098,327
Ensembl chrNW_004955446:1,020,043...1,098,820
JBrowse link
G Pten phosphatase and tensin homolog ameliorates ISO RGD PMID:32843721 RGD:127285600 NCBI chrNW_004955425:5,007,811...5,091,829
Ensembl chrNW_004955425:5,014,147...5,091,829
JBrowse link
G Ptges prostaglandin E synthase ISO protein:increased expression:endometrium RGD PMID:11592775 RGD:2300089 NCBI chrNW_004955445:10,053,745...10,056,981 JBrowse link
G Rrm2 ribonucleotide reductase regulatory subunit M2 ISO DNA:amplification (rat) RGD PMID:15942940 RGD:2324953 NCBI chrNW_004955487:5,477,097...5,481,422
Ensembl chrNW_004955487:5,476,954...5,483,049
JBrowse link
G Tgfbr3 transforming growth factor beta receptor 3 ISO mRNA:decreased expression:endometrium RGD PMID:15745937 RGD:1579943 NCBI chrNW_004955423:2,573,851...2,765,353
Ensembl chrNW_004955423:2,573,795...2,765,772
JBrowse link
G Tp53 tumor protein p53 disease_progression ISO protein:increased expression:endometrium
DNA:missense mutations
RGD PMID:1540970 RGD:2290541 NCBI chrNW_004955467:9,241,391...9,256,716
Ensembl chrNW_004955467:9,252,130...9,255,928
JBrowse link
G Tsg101 tumor susceptibility 101 ISO mRNA:alternative forms RGD PMID:10027311 RGD:2291854 NCBI chrNW_004955414:33,154,812...33,193,769
Ensembl chrNW_004955414:33,154,812...33,193,769
JBrowse link
endometrial cancer term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adrb3 adrenoceptor beta 3 susceptibility ISO associated with Obesity;DNA:polymorphism: :p.W64R (human) RGD PMID:15743038 RGD:2313164 NCBI chrNW_004955463:13,663,064...13,665,553 JBrowse link
G Akt2 AKT serine/threonine kinase 2 severity ISO DNA:snp:intron:c.287+993G>A (rs892119) (human) RGD PMID:22146979 RGD:13432140 NCBI chrNW_004955578:950,258...1,004,438
Ensembl chrNW_004955578:967,593...1,004,438
JBrowse link
G Apc APC regulator of WNT signaling pathway severity
treatment
ISO with Pten knockout
human cells in a mouse model
DNA:mutations, haplotype:cds:multiple (human)
protein:increased expression:endometrium (human)
RGD PMID:15951972 PMID:22907428 PMID:23288720 PMID:29876005 RGD:13524585 RGD:13524624 RGD:13673916 RGD:13673917 NCBI chrNW_004955418:2,567,804...2,675,062
Ensembl chrNW_004955418:2,566,975...2,674,832
JBrowse link
G Apex1 apurinic/apyrimidinic endodeoxyribonuclease 1 ISO DNA:nonsense mutation, missense mutations: :p.W188X, p.P112L, p.R237C (human) RGD PMID:11465542 RGD:2315878 NCBI chrNW_004955550:1,273,170...1,275,843
Ensembl chrNW_004955550:1,273,284...1,279,743
JBrowse link
G Ar androgen receptor ISO RGD PMID:15721279 RGD:1578689 NCBI chrNW_004955475:7,013,960...7,192,473
Ensembl chrNW_004955475:7,013,960...7,186,069
JBrowse link
G Arid1a AT-rich interaction domain 1A onset ISO protein:decreased expression:endometrium (human) RGD PMID:23887303 RGD:126779522 NCBI chrNW_004955452:6,068,631...6,120,759
Ensembl chrNW_004955452:6,068,631...6,120,759
JBrowse link
G Atm ATM serine/threonine kinase susceptibility ISO RGD PMID:17164260 RGD:2293868 NCBI chrNW_004955412:10,422,753...10,531,406
Ensembl chrNW_004955412:10,426,135...10,530,545
JBrowse link
G Bad BCL2 associated agonist of cell death disease progression ISO protein:altered expression:endometrium (human) RGD PMID:24645842 RGD:13432164 NCBI chrNW_004955422:20,795,585...20,809,039
Ensembl chrNW_004955422:20,795,676...20,809,245
JBrowse link
G Bag1 BAG cochaperone 1 ISO protein:increased expression:endometrium RGD PMID:15297164 RGD:2293886 NCBI chrNW_004955472:2,394,317...2,405,199 JBrowse link
G Bcl2l1 BCL2 like 1 ISO protein:increased expression:endometrium RGD PMID:17311011 RGD:1643476 NCBI chrNW_004955422:29,254,440...29,307,104
Ensembl chrNW_004955422:29,254,216...29,308,174
JBrowse link
G Brca2 BRCA2 DNA repair associated ISO DNA:deletion, frameshift mutation RGD PMID:10451700 RGD:2296027 NCBI chrNW_004955431:13,449,287...13,526,878
Ensembl chrNW_004955431:13,449,543...13,527,432
JBrowse link
G Cd59 CD59 molecule (CD59 blood group) ISO protein:increased expression:endometrium RGD PMID:10637067 RGD:2293548 NCBI chrNW_004955422:12,500,572...12,528,738 JBrowse link
G Cd9 CD9 molecule ISO RGD PMID:11505398 RGD:2326208 NCBI chrNW_004955413:3,891,874...3,924,065
Ensembl chrNW_004955413:3,891,874...3,928,119
JBrowse link
G Cdc25b cell division cycle 25B ISO RGD PMID:14559803 RGD:4105451 NCBI chrNW_004955415:14,637,295...14,647,181
Ensembl chrNW_004955415:14,629,132...14,650,116
JBrowse link
G Cdc25c cell division cycle 25C ISO DNA:mutation (human) RGD PMID:12124347 RGD:4105455 NCBI chrNW_004955418:2,114,053...2,138,513 JBrowse link
G Cdh1 cadherin 1 ISO OMIM NCBI chrNW_004955484:7,782,409...7,861,082
Ensembl chrNW_004955484:7,782,772...7,860,967
JBrowse link
G Cdkn2b cyclin dependent kinase inhibitor 2B ISO DNA:deletion (rat) RGD PMID:18558284 RGD:2316081 NCBI chrNW_004955472:12,275,613...12,280,141
Ensembl chrNW_004955472:12,275,544...12,280,528
JBrowse link
G Chi3l1 chitinase 3 like 1 severity ISO protein:increased secretion:serum (human) RGD PMID:17023034 RGD:4892642 NCBI chrNW_004955406:39,195,101...39,201,808
Ensembl chrNW_004955406:39,191,073...39,202,020
JBrowse link
G Comt catechol-O-methyltransferase susceptibility
no_association
ISO DNA:polymorphism: :p.V158M
DNA:hypermethylation:promoter
RGD PMID:12810635 PMID:15285606 PMID:17442187 RGD:2289714 RGD:2289721 RGD:2289723 NCBI chrNW_004955442:18,130,282...18,152,153
Ensembl chrNW_004955442:18,130,987...18,137,412
JBrowse link
G Efemp2 EGF containing fibulin extracellular matrix protein 2 exacerbates
ameliorates
ISO protein:decreased expression:endometrium (human)
human EFEMP2 knockdown cell line in a mouse model
RGD PMID:28177909 RGD:42722012 NCBI chrNW_004955422:19,463,090...19,470,605
Ensembl chrNW_004955422:19,463,987...19,470,605
JBrowse link
G Egf epidermal growth factor severity ISO DNA:snps:5'utr:multiple (human) RGD PMID:19319135 RGD:13673915 NCBI chrNW_004955496:325,954...401,430
Ensembl chrNW_004955496:328,075...401,569
JBrowse link
G Fgf1 fibroblast growth factor 1 disease_progression ISO mRNA:increased expression:myometrium RGD PMID:8685603 RGD:2298516 NCBI chrNW_004955415:11,151,330...11,245,554
Ensembl chrNW_004955415:11,151,266...11,247,344
JBrowse link
G Fgf2 fibroblast growth factor 2 disease_progression ISO mRNA, protein:increased expression:myometrium RGD PMID:8685603 RGD:2298516 NCBI chrNW_004955428:17,840,554...17,894,779
Ensembl chrNW_004955428:17,840,628...17,894,773
JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO ClinVar Annotator: match by term: Endometrial cancer, somatic ClinVar PMID:7719344 PMID:8651276 PMID:9462761 PMID:9719378 PMID:10851026 More... NCBI chrNW_004955551:2,321,190...2,427,000 JBrowse link
G Ghrh growth hormone releasing hormone ISO mRNA:increased expression:tumor:expression in 17/22 specimens RGD PMID:10022420 PMID:15784701 RGD:2289974 RGD:2301423 NCBI chrNW_004955422:24,481,246...24,490,529 JBrowse link
G Hoxb13 homeobox B13 ISO RGD PMID:15756448 RGD:2314730 NCBI chrNW_004955451:12,536,415...12,538,169
Ensembl chrNW_004955451:12,536,415...12,538,169
JBrowse link
G Htra2 HtrA serine peptidase 2 ISO protein:decreased expression:endometrium (human) RGD PMID:19424634 RGD:5688747 NCBI chrNW_004955424:11,255,756...11,259,170
Ensembl chrNW_004955424:11,255,756...11,259,170
JBrowse link
G Il10 interleukin 10 ISO protein:increased expression:serum RGD PMID:9119882 RGD:2317659 NCBI chrNW_004955406:42,307,789...42,312,255
Ensembl chrNW_004955406:42,307,664...42,312,779
JBrowse link
G Jup junction plakoglobin ISO protein:decreased expression:endometrium RGD PMID:12635138 RGD:2301747 NCBI chrNW_004955451:15,993,055...16,004,152
Ensembl chrNW_004955451:15,989,180...16,004,155
JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Endometrial cancer ClinVar PMID:6320174 PMID:11745231 PMID:12460918 PMID:15696205 PMID:16361624 More... NCBI chrNW_004955413:20,298,852...20,328,756
Ensembl chrNW_004955413:20,298,824...20,328,758
JBrowse link
G LOC102010322 cytochrome P450 1A2 ISO DNA:SNP::differences in allele and genotype distribution for CYP1A2*1F polymorphism (p=0.00000002) RGD PMID:18497059 RGD:2301045 NCBI chrNW_004955450:3,165,107...3,171,894
Ensembl chrNW_004955450:3,165,106...3,171,942
JBrowse link
G LOC102010850 cytochrome P450 1A1 ISO DNA:SNP:CDS:rs4646903 T/T genotype, rs4646903-rs1048943 T-A haplotype, rs4646903 (TT) combined with SULT1A1 SNP rs9282861 (GA + AA) or rs4646903 (TT) combined with SULT1E1 SNP rs3736599 (GA+AA) RGD PMID:18318428 RGD:2301040 NCBI chrNW_004955450:3,183,958...3,189,488
Ensembl chrNW_004955450:3,183,750...3,189,488
JBrowse link
G LOC102023780 aromatase ISO DNA:SNP::increase in frequency of mutant heterozygote C/T (p=0.0004) RGD PMID:18497059 RGD:2301045 NCBI chrNW_004955409:3,198,622...3,313,072
Ensembl chrNW_004955409:3,266,233...3,313,142
JBrowse link
G Lta lymphotoxin alpha susceptibility ISO DNA:polymorphism: :252A>G, 804C>A (human) RGD PMID:17045328 RGD:2313259 NCBI chrNW_004955437:114,216...116,003
Ensembl chrNW_004955437:114,640...115,529
JBrowse link
G Mcph1 microcephalin 1 ISO DNA:deletions:exons:multiple (human) RGD PMID:20638839 RGD:9589018 NCBI chrNW_004955403:54,143,454...54,273,201 JBrowse link
G Mlh1 mutL homolog 1 ISO ClinVar Annotator: match by term: Endometrial cancer, somatic ClinVar PMID:8566964 PMID:8574961 PMID:8592341 PMID:9697702 PMID:9806477 More... NCBI chrNW_004955421:3,890,291...3,936,892
Ensembl chrNW_004955421:3,890,306...3,936,526
JBrowse link
G Mlh3 mutL homolog 3 ISO OMIM NCBI chrNW_004955523:515,409...547,257
Ensembl chrNW_004955523:518,565...546,410
JBrowse link
G Mmp7 matrix metallopeptidase 7 disease_progression ISO protein:increased expression:endometrium RGD PMID:17352221 RGD:2298522 NCBI chrNW_004955412:5,780,772...5,792,485
Ensembl chrNW_004955412:5,778,502...5,792,445
JBrowse link
G Msh3 mutS homolog 3 ISO OMIM NCBI chrNW_004955418:29,149,595...29,274,067
Ensembl chrNW_004955418:29,150,085...29,274,437
JBrowse link
G Msh6 mutS homolog 6 ISO OMIM NCBI chrNW_004955441:14,451,207...14,471,316
Ensembl chrNW_004955441:14,451,307...14,471,227
JBrowse link
G Mutyh mutY DNA glycosylase ISO ClinVar Annotator: match by term: malignant endometrial neoplasm ClinVar PMID:11818965 PMID:12606733 PMID:15931596 PMID:15987719 PMID:16492921 More... NCBI chrNW_004955464:12,927,669...12,936,894 JBrowse link
G Notch1 notch receptor 1 ISO mRNA:increased expression:endometrium RGD PMID:11078798 RGD:2299153 NCBI chrNW_004955513:4,225,939...4,264,875
Ensembl chrNW_004955513:4,225,956...4,263,259
JBrowse link
G Notch4 notch receptor 4 ISO mRNA:decreased expression:endometrium RGD PMID:11078798 RGD:2299153 NCBI chrNW_004955437:658,076...679,338 JBrowse link
G Pgm1 phosphoglucomutase 1 ISO RGD PMID:508567 RGD:2299870 NCBI chrNW_004955423:26,408,775...26,437,527
Ensembl chrNW_004955423:26,408,595...26,437,527
JBrowse link
G Pik3cb phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta onset ISO mRNA:increased expression:endometrium (human) RGD PMID:28002804 RGD:13674181 NCBI chrNW_004955501:251,829...381,255
Ensembl chrNW_004955501:259,645...379,909
JBrowse link
G Pik3cd phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta ISO RGD PMID:21478295 RGD:13441595 NCBI chrNW_004955486:3,813,923...3,837,563
Ensembl chrNW_004955486:3,813,923...3,838,119
JBrowse link
G Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 ISO DNA:mutations:multiple (human) RGD PMID:21984976 RGD:13674179 NCBI chrNW_004955446:1,020,707...1,098,327
Ensembl chrNW_004955446:1,020,043...1,098,820
JBrowse link
G Pms2 PMS1 homolog 2, mismatch repair system component ISO ClinVar Annotator: match by term: Endometrial cancer, somatic ClinVar PMID:10480359 PMID:15256438 PMID:16472587 PMID:22703879 PMID:24033266 More... NCBI chrNW_004955460:13,762,854...13,791,462 JBrowse link
G Pten phosphatase and tensin homolog ISO ClinVar Annotator: match by term: Endometrial cancer
ClinVar Annotator: match by term: Endometrial cancer, somatic
ClinVar PMID:9536098 PMID:10866302 PMID:10920277 PMID:11504908 PMID:16014636 More... NCBI chrNW_004955425:5,007,811...5,091,829
Ensembl chrNW_004955425:5,014,147...5,091,829
JBrowse link
G Shbg sex hormone binding globulin ISO DNA:polymorphism:exon:p.D327N (human) RGD PMID:17315164 RGD:1625245 NCBI chrNW_004955467:9,301,173...9,305,010 JBrowse link
G Smad2 SMAD family member 2 ISO protein:increased expression:endometrium RGD PMID:12883738 RGD:2299970 NCBI chrNW_004955402:33,131,760...33,217,144
Ensembl chrNW_004955402:33,136,778...33,216,844
JBrowse link
G Smad3 SMAD family member 3 ISO protein:increased expression:endometrium RGD PMID:12883738 RGD:2299970 NCBI chrNW_004955450:8,747,651...8,842,003
Ensembl chrNW_004955450:8,747,651...8,842,136
JBrowse link
G Smad7 SMAD family member 7 disease_progression ISO mRNA:increased expression:endometrium RGD PMID:15661223 RGD:2299963 NCBI chrNW_004955402:34,028,184...34,058,949
Ensembl chrNW_004955402:34,028,063...34,058,291
JBrowse link
G Socs2 suppressor of cytokine signaling 2 ISO DNA:hypermethylated RGD PMID:15159323 RGD:2298926 NCBI chrNW_004955405:30,349,956...30,623,849
Ensembl chrNW_004955405:30,366,866...30,375,468
Ensembl chrNW_004955405:30,366,866...30,375,468
JBrowse link
G Spag9 sperm associated antigen 9 ISO protein:increased expression:serum: RGD PMID:24460345 RGD:30296659 NCBI chrNW_004955451:10,800,251...10,895,400
Ensembl chrNW_004955451:10,800,128...10,895,400
JBrowse link
G Stk11 serine/threonine kinase 11 ISO RGD PMID:18245476 RGD:2291944 NCBI chrNW_004955495:6,678,195...6,699,408
Ensembl chrNW_004955495:6,678,195...6,699,058
JBrowse link
G Tff1 trefoil factor 1 ISO mRNA, protein:increased expression:endometrium RGD PMID:10835496 RGD:2298569 NCBI chrNW_004955407:39,363,693...39,365,724 JBrowse link
G Timp4 TIMP metallopeptidase inhibitor 4 ISO mRNA:decreased expression:endometrium RGD PMID:15273280 RGD:2290435 NCBI chrNW_004955429:14,689,016...14,693,211
Ensembl chrNW_004955429:14,685,031...14,693,211
JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A ISO protein:increased expression:serum (human) RGD PMID:8920779 RGD:5131439 NCBI chrNW_004955413:3,982,670...3,996,320
Ensembl chrNW_004955413:3,981,400...3,996,021
JBrowse link
G Tnfrsf1b TNF receptor superfamily member 1B ISO protein:increased expression:serum (human) RGD PMID:8920779 RGD:5131439 NCBI chrNW_004955486:1,790,531...1,817,986
Ensembl chrNW_004955486:1,792,115...1,818,362
JBrowse link
G Tymp thymidine phosphorylase ISO RGD PMID:18348659 RGD:2293715 NCBI chrNW_004955413:33,505,424...33,509,095
Ensembl chrNW_004955413:33,505,446...33,508,748
JBrowse link
G Wt1 WT1 transcription factor disease_progression ISO RGD PMID:19443388 RGD:2315542 NCBI chrNW_004955476:10,464,688...10,504,473
Ensembl chrNW_004955476:10,464,616...10,504,473
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 ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chrNW_004955442:14,933,550...14,989,492
Ensembl chrNW_004955442:14,933,550...14,989,492
JBrowse link
G Apc APC regulator of WNT signaling pathway onset ISO DNA:hypermethylation:promoter: (human)
ClinVar Annotator: match by term: Endometrial carcinoma
RGD
ClinVar
PMID:19900189 PMID:21363919 PMID:25741868 PMID:28492532 RGD:13524625 RGD:13525011 NCBI chrNW_004955418:2,567,804...2,675,062
Ensembl chrNW_004955418:2,566,975...2,674,832
JBrowse link
G Arel1 apoptosis resistant E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar PMID:12702580 PMID:17656264 PMID:22290698 PMID:28492532 NCBI chrNW_004955523:818,535...874,189
Ensembl chrNW_004955523:818,535...874,189
JBrowse link
G Atm ATM serine/threonine kinase ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar PMID:12810666 PMID:19781682 PMID:21787400 PMID:23555315 PMID:24728327 More... NCBI chrNW_004955412:10,422,753...10,531,406
Ensembl chrNW_004955412:10,426,135...10,530,545
JBrowse link
G Aurka aurora kinase A ISO mRNA, protein:increased expression:endometrium RGD PMID:16311121 RGD:2293878 NCBI chrNW_004955445:2,831,073...2,853,151
Ensembl chrNW_004955445:2,831,157...2,853,357
JBrowse link
G Aurkb aurora kinase B disease_progression ISO mRNA, protein:increased expression:endometrium RGD PMID:16311121 RGD:2293878 NCBI chrNW_004955467:8,715,387...8,720,889
Ensembl chrNW_004955467:8,715,136...8,723,932
JBrowse link
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO DNA:missense mutations, nonsense mutation:cds:multiple (human)
ClinVar Annotator: match by term: Endometrial carcinoma
RGD
ClinVar
PMID:16144912 PMID:28492532 RGD:13432166 NCBI chrNW_004955494:2,567,238...2,712,708 JBrowse link
G Brca1 BRCA1 DNA repair associated ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar PMID:7581445 PMID:10667592 PMID:10667595 PMID:12566964 PMID:12955716 More... NCBI chrNW_004955451:16,819,463...16,870,780
Ensembl chrNW_004955451:16,819,023...16,855,528
JBrowse link
G Brca2 BRCA2 DNA repair associated ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar PMID:20104584 PMID:22476429 PMID:22703879 PMID:24448499 PMID:24916970 More... NCBI chrNW_004955431:13,449,287...13,526,878
Ensembl chrNW_004955431:13,449,543...13,527,432
JBrowse link
G Bricd5 BRICHOS domain containing 5 ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chrNW_004955442:15,054,116...15,056,506
Ensembl chrNW_004955442:15,055,513...15,060,526
JBrowse link
G Bsg basigin (Ok blood group) disease_progression ISO protein:increased expression:endometrium RGD PMID:17342307 RGD:2296029 NCBI chrNW_004955495:7,148,806...7,156,296 JBrowse link
G Caskin1 CASK interacting protein 1 ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chrNW_004955442:15,075,427...15,092,786
Ensembl chrNW_004955442:15,030,219...15,092,786
JBrowse link
G Ccnb1 cyclin B1 ISO RGD PMID:17483252 RGD:2289230 NCBI chrNW_004955446:140,661...149,500
Ensembl chrNW_004955446:140,093...149,500
JBrowse link
G Cd82 CD82 molecule disease_progression ISO RGD PMID:12684410 RGD:2289403 NCBI chrNW_004955422:3,035,887...3,069,298
Ensembl chrNW_004955422:3,033,133...3,052,153
JBrowse link
G Cdh1 cadherin 1 ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar PMID:8075649 PMID:11598162 PMID:12588804 PMID:14500541 PMID:20233471 More... NCBI chrNW_004955484:7,782,409...7,861,082
Ensembl chrNW_004955484:7,782,772...7,860,967
JBrowse link
G Cdh13 cadherin 13 disease_progression ISO DNA:hypomethylation RGD PMID:18519763 RGD:2298985 NCBI chrNW_004955564:407,120...1,549,880
Ensembl chrNW_004955564:408,730...1,426,841
JBrowse link
G Chek2 checkpoint kinase 2 ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar PMID:25186627 PMID:25741868 PMID:26094658 PMID:26467025 PMID:28492532 More... NCBI chrNW_004955455:2,969,113...3,008,004
Ensembl chrNW_004955455:2,969,270...3,003,173
JBrowse link
G CUNH11orf65 chromosome unknown C11orf65 homolog ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar PMID:12810666 PMID:19781682 PMID:21787400 PMID:23555315 PMID:25741868 More... NCBI chrNW_004955412:10,533,174...10,567,364
Ensembl chrNW_004955412:10,533,441...10,567,612
JBrowse link
G Dhfr dihydrofolate reductase ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chrNW_004955418:29,274,170...29,283,028 JBrowse link
G Dnase1l2 deoxyribonuclease 1 like 2 ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chrNW_004955442:15,028,168...15,031,110
Ensembl chrNW_004955442:15,028,168...15,031,110
JBrowse link
G E4f1 E4F transcription factor 1 ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chrNW_004955442:15,031,210...15,041,437
Ensembl chrNW_004955442:15,030,363...15,041,877
JBrowse link
G Eci1 enoyl-CoA delta isomerase 1 ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chrNW_004955442:15,010,412...15,027,014
Ensembl chrNW_004955442:15,010,412...15,027,014
JBrowse link
G Egfr epidermal growth factor receptor ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar PMID:28492532 NCBI chrNW_004955456:321,222...456,431 JBrowse link
G Erap1 endoplasmic reticulum aminopeptidase 1 disease_progression ISO RGD PMID:15741767 RGD:2315693 NCBI chrNW_004955418:15,827,560...15,859,720
Ensembl chrNW_004955418:15,830,371...15,859,720
JBrowse link
G Fgf7 fibroblast growth factor 7 ISO mRNA:decreased expression:endometrium RGD PMID:9070494 RGD:2301091 NCBI chrNW_004955409:4,633,542...4,686,768
Ensembl chrNW_004955409:4,632,858...4,686,860
JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar PMID:7719344 PMID:8651276 PMID:8696350 PMID:9462761 PMID:9719378