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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 reproductive system disease
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Accession:DOID:229 term browser browse the term
Definition:A reproductive system disease that impairs the ability to reproduce and is located in the uterus, vagina, cervix, ovaries or fallopian tubes. (DO)
Synonyms:exact_synonym: Female Genital Disease;   Female Genital Diseases;   Gynecologic Disease;   Gynecologic Diseases
 narrow_synonym: female genital tract polyp;   menopausal or post-menopausal disease
 primary_id: MESH:D005831
 xref: EFO:0008622;   EFO:0009549;   EFO:0010685;   ICD9CM:629.9
For additional species annotation, visit the Alliance of Genome Resources.

GViewer not supported for the selected species.

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female reproductive system disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Defb119 defensin beta 119 ISO MouseDO NCBI chrNW_004955422:29,544,805...29,550,815
Ensembl chrNW_004955422:29,544,725...29,551,024 		JBrowse link
G Smad2 SMAD family member 2 ISO Endosalpingiosis RGD PMID:16141389 RGD:2299962 NCBI chrNW_004955402:33,131,760...33,217,144
Ensembl chrNW_004955402:33,136,778...33,216,844 		JBrowse link
46 XX gonadal dysgenesis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fancl FA complementation group L ISO OMIM:233300 | OMIM:278850 | OMIM:300833 | OMIM:400045 | OMIM:611812 | OMIM:614324 MouseDO NCBI chrNW_004955424:25,251,701...25,307,236
Ensembl chrNW_004955424:25,251,689...25,307,180 		JBrowse link
G Fshr follicle stimulating hormone receptor ISO ClinVar Annotator: match by term: Gonadal dysgenesis, XX type | ClinVar Annotator: match by term: Ovarian dysgenesis ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955441:15,422,190...15,585,446
Ensembl chrNW_004955441:15,422,190...15,585,537 		JBrowse link
G Mrps22 mitochondrial ribosomal protein S22 ISO ClinVar Annotator: match by term: 46 XX gonadal dysgenesis ClinVar PMID:25741868 PMID:28492532 PMID:29566152 NCBI chrNW_004955508:6,232,514...6,246,593
Ensembl chrNW_004955508:6,232,514...6,246,633 		JBrowse link
G Nr5a1 nuclear receptor subfamily 5 group A member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19246354 NCBI chrNW_004955419:3,632,248...3,654,367
Ensembl chrNW_004955419:3,632,220...3,654,375 		JBrowse link
46,XX sex reversal 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sox9 SRY-box transcription factor 9 ISO ClinVar Annotator: match by term: 46,XX sex reversal 2 OMIM
ClinVar		 PMID:21208124 PMID:22051515 NCBI chrNW_004955478:941,684...945,563
Ensembl chrNW_004955478:940,177...945,563 		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 Arhgap44 Rho GTPase activating protein 44 disease_progression ISO DNA:SNPs, haplotype:intron, exon: (rs2072255, rs2072254) (human)
DNA:SNP:intron: (rs2072255) (human)		 RGD PMID:21107268 PMID:28069446 RGD:401901288 RGD:401901289 NCBI chrNW_004955467:4,428,738...4,590,877
Ensembl chrNW_004955467:4,430,087...4,522,611 		JBrowse link
G Cd4 CD4 molecule ISO associated with drug dependence; protein:increased expression:temporal lobe (human) RGD PMID:16873198 RGD:407420271 NCBI chrNW_004955413:4,400,326...4,422,110
Ensembl chrNW_004955413:4,408,390...4,421,535 		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 Cd68 CD68 molecule ISO associated with drug dependence; protein:increased expression:temporal lobe (human) RGD PMID:16873198 RGD:407420271 NCBI chrNW_004955467:9,340,490...9,343,912
Ensembl chrNW_004955467:9,341,364...9,343,836 		JBrowse link
G Cd8a CD8 subunit alpha ISO associated with drug dependence; protein:increased expression:temporal lobe (human) RGD PMID:16873198 RGD:407420271 NCBI chrNW_004955424:952,595...979,159
Ensembl chrNW_004955424:952,502...978,636 		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 ClinVar Annotator: match by term: Acquired immunodeficiency syndrome, rapid progression to ClinVar 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 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-3 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 ClinVar Annotator: match by term: ACROMESOMELIC DYSPLASIA 3 | ClinVar Annotator: match by term: Acromesomelic dysplasia 3 | ClinVar Annotator: match by term: Acromesomelic dysplasia, Demirhan type | ClinVar Annotator: match by term: CHONDRODYSPLASIA, ACROMESOMELIC, WITH OR WITHOUT GENITAL ANOMALIES OMIM
ClinVar		 PMID:15805157 PMID:22374147 PMID:24129431 PMID:25741868 PMID:25758993 More... 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 protein:increased expression:CSF (human)
associated with HIV Seropositivity;protein:increased expression:plasma, 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 Anos1 anosmin 1 ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:25741868 PMID:27657687 PMID:28492532 PMID:32870266 NCBI chrNW_004955499:6,486,287...6,686,739
Ensembl chrNW_004955499:6,486,682...6,687,484 		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 Axl AXL receptor tyrosine kinase ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:25741868 PMID:28492532 PMID:32870266 NCBI chrNW_004955555:189,445...218,509
Ensembl chrNW_004955555:189,174...218,565 		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
Ensembl chrNW_004955543:2,339,659...2,345,406 		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 zinc finger protein 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 Chd7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:18414213 PMID:21158681 PMID:22539353 PMID:24033266 PMID:25077900 More... NCBI chrNW_004955444:17,859,999...18,067,623
Ensembl chrNW_004955444:17,858,771...18,067,248 		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 Dcc DCC netrin 1 receptor ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:24808016 PMID:25741868 PMID:32870266 NCBI chrNW_004955402:37,123,112...38,218,876
Ensembl chrNW_004955402:37,123,795...38,218,472 		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 Dmxl2 Dmx like 2 ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:28492532 PMID:32870266 NCBI chrNW_004955409:2,934,755...3,089,572
Ensembl chrNW_004955409:2,934,740...3,089,703 		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 120 member B 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 Fezf1 FEZ family zinc finger 1 ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:32870266 NCBI chrNW_004955479:3,945,358...3,953,924
Ensembl chrNW_004955479:3,945,292...3,951,847 		JBrowse link
G Fgfr1 fibroblast growth factor receptor 1 ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:32870266 NCBI chrNW_004955463:14,013,247...14,064,354
Ensembl chrNW_004955463:14,013,247...14,064,111 		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 Flrt3 fibronectin leucine rich transmembrane protein 3 ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:32870266 NCBI chrNW_004955415:23,669,749...23,683,235
Ensembl chrNW_004955415:23,669,749...23,683,235 		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 follicle-stimulating hormone deficiency,OMIM:229070;DNA:frameshift
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 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 subunit beta2 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 Gnrh1 gonadotropin releasing hormone 1 ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:32870266 NCBI chrNW_004955403:48,341,731...48,346,595
Ensembl chrNW_004955403:48,343,597...48,346,595 		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 Hesx1 HESX homeobox 1 ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:21325470 PMID:23465708 PMID:24703149 PMID:25741868 PMID:28492532 More... NCBI chrNW_004955430:6,955,575...6,956,991
Ensembl chrNW_004955430:6,955,575...6,956,991 		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 Kl klotho ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:25741868 PMID:32870266 NCBI chrNW_004955431:12,782,913...12,833,215
Ensembl chrNW_004955431:12,782,846...12,833,215 		JBrowse link
G Klb klotho beta ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:32870266 NCBI chrNW_004955443:7,917,047...7,954,390
Ensembl chrNW_004955443:7,917,585...7,954,322 		JBrowse link
G Lhx3 LIM homeobox 3 ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:32870266 NCBI chrNW_004955513:4,464,149...4,470,962
Ensembl chrNW_004955513:4,464,149...4,470,962 		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 Macrod2 mono-ADP ribosylhydrolase 2 ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:32870266 NCBI chrNW_004955415:23,398,409...25,239,184
Ensembl chrNW_004955415:23,398,776...25,226,450 		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
Ensembl chrNW_004955495:4,695,768...4,722,098 		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 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 Otud4 OTU deubiquitinase 4 ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:25741868 PMID:32870266 NCBI chrNW_004955428:1,062,998...1,108,711
Ensembl chrNW_004955428:1,062,998...1,115,415 		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 Pnpla6 patatin like phospholipase domain containing 6 ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:28492532 PMID:32870266 NCBI chrNW_004955563:1,681,112...1,703,287
Ensembl chrNW_004955563:1,680,818...1,703,287 		JBrowse link
G Polr3b RNA polymerase III subunit B ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:22855961 PMID:25133958 PMID:25741868 PMID:27029625 PMID:27512013 More... NCBI chrNW_004955405:40,353,289...40,451,445
Ensembl chrNW_004955405:40,353,281...40,451,479 		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 Prok2 prokineticin 2 ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:32870266 NCBI chrNW_004955421:16,325,519...16,339,458
Ensembl chrNW_004955421:16,325,519...16,337,980 		JBrowse link
G Prokr2 prokineticin receptor 2 ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:17054399 PMID:18682503 PMID:18826963 PMID:20022991 PMID:22466334 More... NCBI chrNW_004955415:15,867,017...15,878,471
Ensembl chrNW_004955415:15,866,554...15,878,582 		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 Rab3gap1 RAB3 GTPase activating protein catalytic subunit 1 ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:32870266 NCBI chrNW_004955440:2,551,015...2,645,938
Ensembl chrNW_004955440:2,550,982...2,646,331 		JBrowse link
G Rab3gap2 RAB3 GTPase activating non-catalytic protein subunit 2 ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:25741868 PMID:28492532 PMID:32870266 NCBI chrNW_004955520:3,411,504...3,483,703
Ensembl chrNW_004955520:3,411,770...3,483,413 		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 Sema3a semaphorin 3A ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:22927827 PMID:28492532 PMID:32870266 NCBI chrNW_004955410:2,146,088...2,344,342
Ensembl chrNW_004955410:2,144,388...2,338,973 		JBrowse link
G Sema3e semaphorin 3E ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:28492532 PMID:32870266 NCBI chrNW_004955410:2,732,983...2,831,220
Ensembl chrNW_004955410:2,732,996...2,831,210 		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 Sox2 SRY-box transcription factor 2 ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:28492532 PMID:32870266 NCBI chrNW_004955420:10,671,888...10,674,080
Ensembl chrNW_004955420:10,671,978...10,672,934 		JBrowse link
G Spry4 sprouty RTK signaling antagonist 4 ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:23643382 PMID:24033266 PMID:28492532 PMID:32870266 NCBI chrNW_004955415:11,489,439...11,504,247 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 Tacr3 tachykinin receptor 3 ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:32870266 NCBI chrNW_004955496:5,152,134...5,222,565
Ensembl chrNW_004955496:5,151,668...5,222,624 		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 Wdr11 WD repeat domain 11 ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:32870266 NCBI chrNW_004955551:1,733,079...1,788,354
Ensembl chrNW_004955551:1,733,004...1,788,438 		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
Ensembl chrNW_004955495:5,678,007...5,712,404 		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 CD8 subunit alpha 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
Ensembl chrNW_004955532:3,828,775...3,832,582 		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
Anterior Diaphragmatic Hernia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pls3 plastin 3 ISO ClinVar Annotator: match by term: Hernia, anterior diaphragmatic | ClinVar Annotator: match by term: PLS3-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:37751738 NCBI chrNW_004955490:125,913...221,152
Ensembl chrNW_004955490:122,328...221,388 		JBrowse link
Asthenozoospermia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akap4 A-kinase anchoring protein 4 ISO ClinVar Annotator: match by term: asthenozoospermia ClinVar PMID:12167408 PMID:25741868 PMID:31969357 NCBI chrNW_004955543:1,358,086...1,367,838
Ensembl chrNW_004955543:1,357,997...1,367,897 		JBrowse link
G Armc2 armadillo repeat containing 2 ISO ClinVar Annotator: match by term: asthenozoospermia ClinVar PMID:25741868 PMID:30686508 NCBI chrNW_004955411:33,921,459...34,021,375 JBrowse link
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 Cdk16 cyclin dependent kinase 16 ISO ClinVar Annotator: match by term: asthenozoospermia ClinVar PMID:22184064 PMID:25741868 NCBI chrNW_004955516:860,474...873,338
Ensembl chrNW_004955516:860,480...873,338 		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 Cfap43 cilia and flagella associated protein 43 ISO ClinVar Annotator: match by term: asthenozoospermia ClinVar PMID:25741868 PMID:28552195 PMID:29449551 PMID:31004071 NCBI chrNW_004955485:6,418,063...6,515,730
Ensembl chrNW_004955485:6,451,004...6,515,532 		JBrowse link
G Cul4b cullin 4B ISO ClinVar Annotator: match by term: asthenozoospermia ClinVar PMID:25741868 PMID:26832838 NCBI chrNW_004955572:1,308,491...1,365,147 JBrowse link
G Dnah1 dynein axonemal heavy chain 1 ISO ClinVar Annotator: match by term: asthenozoospermia ClinVar PMID:15838840 PMID:25741868 PMID:30734403 NCBI chrNW_004955430:2,323,928...2,391,470
Ensembl chrNW_004955430:2,327,584...2,391,423 		JBrowse link
G Dnah10 dynein axonemal heavy chain 10 ISO ClinVar Annotator: match by term: asthenozoospermia ClinVar PMID:25741868 PMID:34237282 NCBI chrNW_004955482:5,206,653...5,308,437
Ensembl chrNW_004955482:5,206,847...5,308,218 		JBrowse link
G Efcab6 EF-hand calcium binding domain 6 ISO ClinVar Annotator: match by term: asthenozoospermia ClinVar PMID:25741868 NCBI chrNW_004955413:28,569,080...28,783,455
Ensembl chrNW_004955413:28,567,634...28,783,565 		JBrowse link
G Fam83f family with sequence similarity 83 member F ISO ClinVar Annotator: match by term: asthenozoospermia ClinVar PMID:25741868 NCBI chrNW_004955413:25,775,107...25,807,592
Ensembl chrNW_004955413:25,775,107...25,807,625 		JBrowse link
G Fsip2 fibrous sheath interacting protein 2 ISO ClinVar Annotator: match by term: asthenozoospermia ClinVar PMID:25741868 PMID:34125190 NCBI chrNW_004955403:12,261,233...12,334,754
Ensembl chrNW_004955403:12,261,208...12,334,754 		JBrowse link
G Gtf2h1 general transcription factor IIH subunit 1 ISO ClinVar Annotator: match by term: asthenozoospermia ClinVar PMID:25741868 NCBI chrNW_004955414:33,028,701...33,063,233
Ensembl chrNW_004955414:33,028,701...33,063,233 		JBrowse link
G Hydin HYDIN axonemal central pair apparatus protein ISO ClinVar Annotator: match by term: asthenozoospermia ClinVar PMID:25741868 PMID:30089752 NCBI chrNW_004955484:3,567,896...3,948,807
Ensembl chrNW_004955484:3,567,396...3,949,261 		JBrowse link
G Mad2l2 mitotic arrest deficient 2 like 2 ISO ClinVar Annotator: match by term: asthenozoospermia ClinVar PMID:25741868 NCBI chrNW_004955486:2,191,903...2,197,193
Ensembl chrNW_004955486:2,191,903...2,198,538 		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
G Sprtn SprT-like N-terminal domain ISO ClinVar Annotator: match by term: asthenozoospermia ClinVar PMID:25741868 NCBI chrNW_004955492:7,463,228...7,476,683
Ensembl chrNW_004955492:7,464,959...7,476,458 		JBrowse link
G Ttc12 tetratricopeptide repeat domain 12 ISO ClinVar Annotator: match by term: asthenozoospermia ClinVar PMID:25741868 PMID:37325566 NCBI chrNW_004955412:14,945,237...15,011,560
Ensembl chrNW_004955412:14,945,116...15,011,708 		JBrowse link
G Ttc21a tetratricopeptide repeat domain 21A ISO ClinVar Annotator: match by term: asthenozoospermia ClinVar PMID:25741868 PMID:30929735 NCBI chrNW_004955427:24,833,021...24,862,199
Ensembl chrNW_004955427:24,833,071...24,862,473 		JBrowse link
G Ttll5 tubulin tyrosine ligase like 5 ISO ClinVar Annotator: match by term: asthenozoospermia ClinVar PMID:23558686 PMID:25741868 PMID:28492532 NCBI chrNW_004955612:109,742...351,255
Ensembl chrNW_004955612:109,743...353,918 		JBrowse link
G Usp26 ubiquitin specific peptidase 26 ISO ClinVar Annotator: match by term: asthenozoospermia ClinVar PMID:25741868 PMID:30561524 PMID:31551464 NCBI chrNW_004955473:1,903,865...1,957,747 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 ClinVar Annotator: match by term: Congenital bilateral aplasia of vas deferens from CFTR mutation OMIM
ClinVar		 PMID:754013 PMID:1282016 PMID:1283148 PMID:1283149 PMID:1284466 More... 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 Alpk1 alpha kinase 1 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chrNW_004955457:14,325,278...14,444,368
Ensembl chrNW_004955457:14,325,281...14,379,937 		JBrowse link
G Ank2 ankyrin 2 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chrNW_004955457:13,624,590...13,938,427
Ensembl chrNW_004955457:13,624,413...14,076,261 		JBrowse link
G Ap1ar adaptor related protein complex 1 associated regulatory protein ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chrNW_004955457:14,456,414...14,471,584
Ensembl chrNW_004955457:14,457,990...14,491,435 		JBrowse link
G Fam241a family with sequence similarity 241 member A ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chrNW_004955457:14,550,478...14,553,757 JBrowse link
G Hmgn2 high mobility group nucleosomal binding domain 2 ISO OMIM:180500 MouseDO NCBI chrNW_004955452:5,846,085...5,849,996
Ensembl chrNW_004955452:5,846,085...5,849,996 		JBrowse link
G Larp7 La ribonucleoprotein 7, transcriptional regulator ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chrNW_004955457:14,178,674...14,200,164
Ensembl chrNW_004955457:14,178,947...14,192,193 		JBrowse link
G Neurog2 neurogenin 2 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chrNW_004955457:14,268,078...14,287,050 JBrowse link
G Pitx2 paired like homeodomain 2 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 OMIM
ClinVar		 PMID:8944018 PMID:9536098 PMID:9685346 PMID:10490637 PMID:11301317 More... 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
G Tifa TRAF interacting protein with forkhead associated domain ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chrNW_004955457:14,444,811...14,460,168
Ensembl chrNW_004955457:14,444,814...14,450,767 		JBrowse link
G Zgrf1 zinc finger GRF-type containing 1 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chrNW_004955457:14,200,280...14,258,010 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 protein:decreased expression:testis:
DNA:SNP: :rs3088232(human)		 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 ClinVar Annotator: match by term: Obstructive azoospermia ClinVar PMID:1283148 PMID:1284534 PMID:1284535 PMID:1284639 PMID:1370875 More... NCBI chrNW_004955432:23,179,645...23,328,347
Ensembl chrNW_004955432:23,178,866...23,328,382 		JBrowse link
G CUNH14orf39 chromosome unknown C14orf39 homolog ISO ClinVar Annotator: match by term: Azoospermia ClinVar PMID:33508233 NCBI chrNW_004955466:9,158,022...9,194,088
Ensembl chrNW_004955466:9,157,944...9,195,226 		JBrowse link
G Ddx25 DEAD-box helicase 25 ISO ClinVar Annotator: match by term: Azoospermia ClinVar NCBI chrNW_004955412:26,952,655...26,973,758
Ensembl chrNW_004955412:26,952,239...26,972,100 		JBrowse link
G Dmc1 DNA meiotic recombinase 1 ISO ClinVar Annotator: match by term: Azoospermia ClinVar NCBI chrNW_004955413:24,685,311...24,724,269
Ensembl chrNW_004955413:24,684,073...24,724,344 		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 Fahd1 fumarylacetoacetate hydrolase domain containing 1 ISO ClinVar Annotator: match by term: Azoospermia ClinVar NCBI chrNW_004955442:15,450,066...15,451,797 JBrowse link
G Fancm FA complementation group M ISO ClinVar Annotator: match by term: Azoospermia ClinVar PMID:17289582 PMID:18174376 PMID:19379763 PMID:23409019 PMID:23932590 More... NCBI chrNW_004955409:16,751,658...16,809,352 JBrowse link
G Gcna germ cell nuclear acidic peptidase ISO ClinVar Annotator: match by term: Azoospermia ClinVar PMID:35172124 NCBI chrNW_004955475:11,111,151...11,145,474 JBrowse link
G Gopc golgi associated PDZ and coiled-coil motif containing ISO OMIM:102530 | OMIM:108420 | OMIM:243060 | OMIM:258150 | OMIM:270960 | OMIM:309120 | OMIM:415000 | OMIM:606766 | OMIM:612997 | OMIM:613957 | OMIM:613958 | OMIM:614822 | OMIM:615081 | OMIM:615413 | OMIM:615841 | OMIM:615842 MouseDO NCBI chrNW_004955436:743,616...777,878
Ensembl chrNW_004955436:742,305...777,566 		JBrowse link
G Henmt1 HEN methyltransferase 1 ISO ClinVar Annotator: match by term: Azoospermia ClinVar NCBI chrNW_004955435:12,137,537...12,154,630
Ensembl chrNW_004955435:12,138,177...12,154,630 		JBrowse link
G Hfm1 helicase for meiosis 1 ISO ClinVar Annotator: match by term: Azoospermia ClinVar NCBI chrNW_004955423:2,993,723...3,088,391
Ensembl chrNW_004955423:2,993,682...3,089,024 		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 Kash5 KASH domain containing 5 ISO ClinVar Annotator: match by term: Azoospermia ClinVar NCBI chrNW_004955559:1,416,844...1,438,451 JBrowse link
G Mcm8 minichromosome maintenance 8 homologous recombination repair factor ISO ClinVar Annotator: match by term: Azoospermia ClinVar NCBI chrNW_004955415:16,345,472...16,379,922
Ensembl chrNW_004955415:16,346,253...16,379,021 		JBrowse link
G Mcmdc2 minichromosome maintenance domain containing 2 ISO ClinVar Annotator: match by term: Azoospermia ClinVar NCBI chrNW_004955444:12,348,537...12,382,769
Ensembl chrNW_004955444:12,348,543...12,382,769 		JBrowse link
G Meiob meiosis specific with OB-fold ISO ClinVar Annotator: match by term: Azoospermia ClinVar NCBI chrNW_004955442:15,409,344...15,444,996
Ensembl chrNW_004955442:15,409,344...15,444,996 		JBrowse link
G Mov10l1 Mov10 like RNA helicase 1 ISO ClinVar Annotator: match by term: Azoospermia ClinVar NCBI chrNW_004955413:33,142,857...33,208,897
Ensembl chrNW_004955413:33,142,918...33,208,329 		JBrowse link
G Msh5 mutS homolog 5 ISO ClinVar Annotator: match by term: Azoospermia ClinVar NCBI chrNW_004955437:275,976...297,268
Ensembl chrNW_004955437:279,744...297,153 		JBrowse link
G Pdha2 pyruvate dehydrogenase E1 subunit alpha 2 ISO ClinVar Annotator: match by term: Azoospermia ClinVar PMID:29581481 PMID:35172124 NCBI chrNW_004955405:6,383,088...6,383,946 JBrowse link
G Rec8 REC8 meiotic recombination protein ISO ClinVar Annotator: match by term: Azoospermia ClinVar NCBI chrNW_004955409:36,223,783...36,231,749
Ensembl chrNW_004955409:36,223,844...36,230,948 		JBrowse link
G Sycp3 synaptonemal complex protein 3 ISO OMIM:102530 | OMIM:108420 | OMIM:243060 | OMIM:258150 | OMIM:270960 | OMIM:309120 | OMIM:415000 | OMIM:606766 | OMIM:612997 | OMIM:613957 | OMIM:613958 | OMIM:614822 | OMIM:615081 | OMIM:615413 | OMIM:615841 | OMIM:615842
CTD Direct Evidence: marker/mechanism		 MouseDO
CTD		 PMID:14643120 NCBI chrNW_004955405:37,093,330...37,102,789
Ensembl chrNW_004955405:37,093,652...37,102,856 		JBrowse link
G Tdrd9 tudor domain containing 9 ISO ClinVar Annotator: match by term: Azoospermia ClinVar NCBI chrNW_004955538:2,667,219...2,749,805
Ensembl chrNW_004955538:2,667,299...2,749,248 		JBrowse link
G Tdrkh tudor and KH domain containing ISO ClinVar Annotator: match by term: Azoospermia ClinVar NCBI chrNW_004955589:630,989...649,936
Ensembl chrNW_004955589:631,462...649,936 		JBrowse link
G Terb1 telomere repeat binding bouquet formation protein 1 ISO ClinVar Annotator: match by term: Azoospermia ClinVar NCBI chrNW_004955433:23,290,030...23,332,886
Ensembl chrNW_004955433:23,288,825...23,333,151 		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 ClinVar Annotator: match by term: Azoospermia, obstructive, with nephrolithiasis OMIM
ClinVar		 PMID:31320686 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 ClinVar Annotator: match by term: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE I | ClinVar Annotator: match by term: Blepharophimosis, ptosis, epicanthus inversus type 1 ClinVar PMID:11175783 PMID:11468277 PMID:11776388 PMID:12400065 PMID:12529855 More... NCBI chrNW_004955501:83,965...84,476 JBrowse link
bowenoid papulosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Birc2 baculoviral IAP repeat containing 2 ISO mRNA:increased expression:perianal skin (human) RGD PMID:20346172 RGD:152998971 NCBI chrNW_004955412:5,658,322...5,685,628
Ensembl chrNW_004955412:5,659,478...5,685,114 		JBrowse link
G Birc3 baculoviral IAP repeat containing 3 ISO mRNA:increased expression:perianal skin (human) RGD PMID:20346172 RGD:152998971 NCBI chrNW_004955412:5,624,865...5,643,520
Ensembl chrNW_004955412:5,628,973...5,643,410 		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 regression sequence | ClinVar Annotator: match by term: Sacral defect with anterior meningocele 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 ClinVar Annotator: match by term: Caudal regression sequence | ClinVar Annotator: match by term: Sacral defect with anterior meningocele ClinVar
OMIM		 PMID:17409324 PMID:19319979 PMID:22892949 PMID:24033266 PMID:24307374 More... 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 DNA helicase 1 ISO ClinVar Annotator: match by term: Cervical cancer 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: Cancer of cervix | ClinVar Annotator: match by term: Cervical cancer | ClinVar Annotator: match by term: Cervix cancer ClinVar PMID:1908846 PMID:7647778 PMID:7649548 PMID:7670477 PMID:7702086 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
Ensembl chrNW_004955412:19,586,141...19,665,527 		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 Macc1 MET transcriptional regulator MACC1 ISO mRNA:increased expression:cervical region (human) RGD PMID:33603486 RGD:152999025 NCBI chrNW_004955410:22,777,518...22,894,561
Ensembl chrNW_004955410:22,811,786...22,894,572 		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 Sf3b4 splicing factor 3b subunit 4 severity ISO human cells in mouse model
mRNA, protein:increased expression:cervix (human)		 RGD PMID:35853859 RGD:155882439 NCBI chrNW_004955413:826,190...830,502
Ensembl chrNW_004955413:826,190...832,496 		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 Spag5 sperm associated antigen 5 severity ISO mRNA, protein:increased expression:cervix (human) RGD PMID:35853859 RGD:155882439 NCBI chrNW_004955481:4,558,748...4,576,320
Ensembl chrNW_004955481:4,558,851...4,576,038 		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
Ensembl chrNW_004955437:1,477,341...1,498,575 		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:8001119 PMID:8843196 PMID:9407971 More... NCBI chrNW_004955467:9,241,391...9,256,716
Ensembl chrNW_004955467:9,252,130...9,255,928 		JBrowse link
G Tp73 tumor protein p73 susceptibility ISO DNA:SNPs:exon 2:4G>A, 14C>T (rs2273953, rs1801173) (human) RGD PMID:30420492 RGD:151347580 NCBI chrNW_004955486:7,914,608...7,961,992
Ensembl chrNW_004955486:7,914,440...7,952,982 		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 DNA 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
Ensembl chrNW_004955437:1,477,341...1,498,575 		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 forms:uterine cervix:multiple
mRNA:alternative form:uterine cervix		 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 mRNA:decreased expression:tumor:significant decrease in cancer relative to controls (P=0.03)
protein:decreased expression:serum:significantly decreased (p<0.0001), levels inversely associated with serum IGF-II levels (p<0.01)		 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 Phb1 prohibitin 1 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
Ensembl chrNW_004955532:3,828,775...3,832,582 		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 protein:increased expression:plasma
protein:increased expression: cervicovaginal fluid :
associated with Premature Birth;protein:increased expression:tracheal aspirate fluid:		 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 ClinVar Annotator: match by term: Congenital bilateral absence of vas deferens ClinVar PMID:1381723 PMID:2344617 PMID:7506096 PMID:7539342 PMID:7573058 More... 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 Des desmin ISO ClinVar Annotator: match by term: Congenital diaphragmatic hernia 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 ClinVar Annotator: match by term: Congenital diaphragmatic hernia ClinVar PMID:25741868 PMID:28492532 PMID:33443296 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: Agenesis of hemidiaphragm | 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 ClinVar Annotator: match by term: Agenesis of hemidiaphragm ClinVar PMID:23806086 PMID:24088041 PMID:25736269 PMID:25741868 PMID:28492532 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: Agenesis of hemidiaphragm | ClinVar Annotator: match by term: Congenital diaphragmatic hernia ClinVar PMID:25741868 PMID:28492532 PMID:30143558 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 OMIM:142340 | OMIM:222400 | OMIM:610187
CTD Direct Evidence: marker/mechanism		 MouseDO
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 Htr2a 5-hydroxytryptamine receptor 2A ISO mRNA, protein:increased expression:lung RGD PMID:24888825 RGD:401901089 NCBI chrNW_004955431:583,165...646,991
Ensembl chrNW_004955431:580,713...647,345 		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;
OMIM:142340 | OMIM:222400 | OMIM:610187		 RGD
MouseDO		 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 Lrp1 LDL receptor related protein 1 ISO OMIM:142340 | OMIM:222400 | OMIM:610187 MouseDO NCBI chrNW_004955458:4,861,431...4,941,939
Ensembl chrNW_004955458:4,861,431...4,941,146 		JBrowse link
G Lztr1 leucine zipper like post translational regulator 1 ISO ClinVar Annotator: match by term: Congenital diaphragmatic hernia ClinVar PMID:24362817 PMID:25335493 PMID:25480913 PMID:25741868 PMID:25795793 More... 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: Agenesis of hemidiaphragm ClinVar PMID:14559814 PMID:21970370 PMID:22703879 PMID:23806086 PMID:24088041 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: Agenesis of hemidiaphragm 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 Myo15a myosin XVA ISO ClinVar Annotator: match by term: Agenesis of hemidiaphragm ClinVar PMID:24033266 PMID:25741868 PMID:26445815 PMID:27375115 PMID:28492532 NCBI chrNW_004955478:11,131,908...11,186,465
Ensembl chrNW_004955478:11,132,719...11,186,378 		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 Myrf myelin regulatory factor ISO ClinVar Annotator: match by term: Agenesis of hemidiaphragm ClinVar PMID:25741868 PMID:30532227 NCBI chrNW_004955511:5,927,103...5,949,289
Ensembl chrNW_004955511:5,927,698...5,942,242 		JBrowse link
G Ndst1 N-deacetylase and N-sulfotransferase 1 ISO OMIM:142340 | OMIM:222400 | OMIM:610187 MouseDO NCBI chrNW_004955415:4,017,142...4,078,927
Ensembl chrNW_004955415:3,999,473...4,060,998 		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 Nr2f2 nuclear receptor subfamily 2 group F member 2 ISO OMIM:142340 | OMIM:222400 | OMIM:610187 MouseDO 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 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 Pdgfra platelet derived growth factor receptor alpha ISO OMIM:142340 | OMIM:222400 | OMIM:610187 MouseDO NCBI chrNW_004955447:16,570,652...16,613,410
Ensembl chrNW_004955447:16,569,909...16,612,373 		JBrowse link
G Pgap3 post-GPI attachment to proteins phospholipase 3 ISO ClinVar Annotator: match by term: Agenesis of hemidiaphragm ClinVar PMID:25741868 PMID:30345601 NCBI chrNW_004955451:14,418,923...14,428,032
Ensembl chrNW_004955451:14,418,923...14,428,039 		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 Pls3 plastin 3 ISO ClinVar Annotator: match by term: Congenital diaphragmatic hernia ClinVar PMID:25741868 PMID:37751738 NCBI chrNW_004955490:125,913...221,152
Ensembl chrNW_004955490:122,328...221,388 		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 Sftpb surfactant protein B treatment ISO RGD PMID:11051153 RGD:151667435 NCBI chrNW_004955424:1,849,313...1,858,087
Ensembl chrNW_004955424:1,849,314...1,858,087 		JBrowse link
G Slc6a4 solute carrier family 6 member 4 ISO protein:increased expression:lung RGD PMID:24888825 RGD:401901089 NCBI chrNW_004955481:3,088,440...3,122,421
Ensembl chrNW_004955481:3,088,416...3,125,711 		JBrowse link
G Slit2 slit guidance ligand 2 ISO mRNA:increased expression:lung RGD PMID:19944214 RGD:243048459 NCBI chrNW_004955480:3,982,977...4,314,160
Ensembl chrNW_004955480:3,984,586...4,313,908 		JBrowse link
G Slit3 slit guidance ligand 3 ISO mRNA:increased expression:lung
OMIM:142340 | OMIM:222400 | OMIM:610187		 RGD
MouseDO		 PMID:19944214 RGD:243048459 NCBI chrNW_004955408:21,719,487...22,322,958
Ensembl chrNW_004955408:21,722,632...22,322,917 		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 Sox7 SRY-box transcription factor 7 ISO OMIM:142340 | OMIM:222400 | OMIM:610187 MouseDO NCBI chrNW_004955403:52,253,816...52,259,884
Ensembl chrNW_004955403:52,253,482...52,259,884 		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
OMIM:142340 | OMIM:222400 | OMIM:610187		 CTD
MouseDO		 PMID:21072664 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 OMIM:142340 | OMIM:222400 | OMIM:610187 MouseDO NCBI chrNW_004955417:28,931,428...29,268,778
Ensembl chrNW_004955417:28,920,210...29,269,271 		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
Deafness-Infertility Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Catsper2 cation channel sperm associated 2 ISO ClinVar Annotator: match by term: Deafness-infertility syndrome ClinVar PMID:19344877 PMID:24033266 PMID:25741868 NCBI chrNW_004955409:3,925,106...3,940,566 JBrowse link
G Pdia3 protein disulfide isomerase family A member 3 ISO ClinVar Annotator: match by term: Deafness-infertility syndrome ClinVar PMID:25741868 NCBI chrNW_004955416:10,197,957...10,221,104
Ensembl chrNW_004955416:10,198,099...10,220,792 		JBrowse link
G Ppip5k1 diphosphoinositol pentakisphosphate kinase 1 ISO ClinVar Annotator: match by term: Deafness-infertility syndrome ClinVar PMID:25741868 NCBI chrNW_004955416:10,074,239...10,113,268
Ensembl chrNW_004955416:10,074,239...10,109,523 		JBrowse link
G Strc stereocilin ISO ClinVar Annotator: match by term: Deafness-infertility syndrome ClinVar PMID:18414213 PMID:21078986 PMID:22147502 PMID:24033266 PMID:25157971 More... NCBI chrNW_004955416:10,139,420...10,141,906 JBrowse link
dermoid cyst of ovary term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxo3 forkhead box O3 ISO OMIM:166950 MouseDO NCBI chrNW_004955411:33,655,958...33,770,829
Ensembl chrNW_004955411:33,655,958...33,770,829 		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 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