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RGD DISEASE ONTOLOGY - ANNOTATIONS

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

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


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Female Urogenital Diseases term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amh anti-Mullerian hormone ISO CTD Direct Evidence: marker/mechanism CTD PMID:16002989 NCBI chrNW_004936588:1,342,791...1,345,746
Ensembl chrNW_004936588:1,343,085...1,345,654
JBrowse link
G Amhr2 anti-Mullerian hormone receptor type 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16002989 NCBI chrNW_004936512:10,706,043...10,712,797
Ensembl chrNW_004936512:10,705,350...10,713,517
JBrowse link
G Bmpr1a bone morphogenetic protein receptor type 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:16002989 NCBI chrNW_004936804:52,435...115,289
Ensembl chrNW_004936804:48,947...115,412
JBrowse link
G Emx2 empty spiracles homeobox 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16002989 NCBI chrNW_004936486:7,313,689...7,319,971
Ensembl chrNW_004936486:7,313,190...7,319,995
JBrowse link
G Esr1 estrogen receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16002989 NCBI chrNW_004936489:4,616,839...4,887,179
Ensembl chrNW_004936489:4,614,754...4,887,171
JBrowse link
G Hoxa10 homeobox A10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16002989 NCBI chrNW_004936478:3,798,679...3,802,007 JBrowse link
G Hoxa11 homeobox A11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16002989 NCBI chrNW_004936478:3,809,288...3,813,014
Ensembl chrNW_004936478:3,809,288...3,813,014
JBrowse link
G Hoxa13 homeobox A13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16002989 NCBI chrNW_004936478:3,824,715...3,827,277
Ensembl chrNW_004936478:3,824,715...3,827,277
JBrowse link
G Igf1 insulin like growth factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16002989 NCBI chrNW_004936492:11,709,623...11,784,028
Ensembl chrNW_004936492:11,709,222...11,778,351
JBrowse link
G Lhx1 LIM homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16002989 NCBI chrNW_004936490:1,324,378...1,332,177
Ensembl chrNW_004936490:1,324,370...1,331,505
JBrowse link
G Lif LIF interleukin 6 family cytokine ISO CTD Direct Evidence: marker/mechanism CTD PMID:16002989 NCBI chrNW_004936904:410,043...413,256
Ensembl chrNW_004936904:410,043...413,257
JBrowse link
G Msx2 msh homeobox 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16513791 NCBI chrNW_004936609:1,216,436...1,221,528
Ensembl chrNW_004936609:1,216,436...1,221,561
JBrowse link
G Pax2 paired box 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16002989 NCBI chrNW_004936600:4,850,594...4,939,010
Ensembl chrNW_004936600:4,850,552...4,928,214
JBrowse link
G Timp1 TIMP metallopeptidase inhibitor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16002989 NCBI chrNW_004936502:13,345,936...13,350,170
Ensembl chrNW_004936502:13,345,832...13,350,248
JBrowse link
G Tp63 tumor protein p63 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16002989 NCBI chrNW_004936578:492,267...705,282
Ensembl chrNW_004936578:491,507...705,729
JBrowse link
G Wnt4 Wnt family member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16002989 NCBI chrNW_004936474:7,623,462...7,635,416
Ensembl chrNW_004936474:7,623,463...7,635,664
JBrowse link
G Wnt5a Wnt family member 5A ISO CTD Direct Evidence: marker/mechanism CTD PMID:16002989 NCBI chrNW_004936473:6,031,627...6,052,211
Ensembl chrNW_004936473:6,029,976...6,052,159
JBrowse link
G Wnt7a Wnt family member 7A ISO CTD Direct Evidence: marker/mechanism CTD PMID:16002989 NCBI chrNW_004936898:45,903...70,313
Ensembl chrNW_004936898:45,115...70,326
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_004936491:4,057,312...4,119,966
Ensembl chrNW_004936491:4,029,388...4,119,976
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_004936508:3,601,205...3,754,234
Ensembl chrNW_004936508:3,601,315...3,753,706
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_004936540:1,451,882...1,466,569
Ensembl chrNW_004936540:1,451,826...1,468,865
JBrowse link
G Nr5a1 nuclear receptor subfamily 5 group A member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19246354 NCBI chrNW_004936487:12,739,445...12,763,729
Ensembl chrNW_004936487:12,739,439...12,763,734
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 ClinVar PMID:21208124 PMID:22051515 NCBI chrNW_004936655:1,849,044...1,852,648
Ensembl chrNW_004936655:1,847,272...1,852,705
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_004936763:1,225,355...1,308,257
Ensembl chrNW_004936763:1,226,482...1,297,427
JBrowse link
G Arhgap44 Rho GTPase activating protein 44 disease_progression ISO DNA:SNP:intron: (rs2072255) (human)
DNA:SNPs, haplotype:intron, exon: (rs2072255, rs2072254) (human)
RGD PMID:21107268 PMID:28069446 RGD:401901288 RGD:401901289 NCBI chrNW_004936595:5,373,645...5,542,915
Ensembl chrNW_004936595:5,373,476...5,543,073
JBrowse link
G Bst2 bone marrow stromal cell antigen 2 ISO DNA:SNPs: : RGD PMID:26885809 RGD:14398494
G Cd4 CD4 molecule ISO associated with drug dependence; protein:increased expression:temporal lobe (human) RGD PMID:16873198 RGD:407420271 NCBI chrNW_004936709:997,776...1,022,791
Ensembl chrNW_004936709:997,750...1,022,884
JBrowse link
G Cd40lg CD40 ligand treatment ISO RGD PMID:9499800 RGD:11344976 NCBI chrNW_004936513:10,607,617...10,620,403
Ensembl chrNW_004936513:10,607,617...10,620,403
JBrowse link
G Cd68 CD68 molecule ISO associated with drug dependence; protein:increased expression:temporal lobe (human) RGD PMID:16873198 RGD:407420271 NCBI chrNW_004936595:858,289...861,131 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_004936712:885,301...891,247
Ensembl chrNW_004936712:885,458...890,852
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_004936706:1,816,561...1,829,638
Ensembl chrNW_004936706:1,816,571...1,829,692
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_004936843:658,058...672,662
Ensembl chrNW_004936843:657,979...672,700
JBrowse link
G Ifng interferon gamma ISO ClinVar Annotator: match by term: Acquired immunodeficiency syndrome, rapid progression to ClinVar PMID:12854077 NCBI chrNW_004936545:6,139,130...6,144,543
Ensembl chrNW_004936545:6,139,116...6,148,452
JBrowse link
G Igf2 insulin like growth factor 2 ISO protein:decreased expression:plasma RGD PMID:11232005 RGD:5509969 NCBI chrNW_004936816:972,902...981,232
Ensembl chrNW_004936816:972,282...979,167
JBrowse link
G Il2 interleukin 2 ISO CTD Direct Evidence: therapeutic CTD PMID:9861562 NCBI chrNW_004936662:1,594,953...1,599,625
Ensembl chrNW_004936662:1,594,953...1,599,625
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_004936727:1,921,452...1,924,395 JBrowse link
G Tnf tumor necrosis factor ISO RGD PMID:8548330 RGD:12904035 NCBI chrNW_004936727:1,936,066...1,937,766
Ensembl chrNW_004936727:1,936,066...1,937,766
JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A ISO RGD PMID:8548330 RGD:12904035 NCBI chrNW_004936709:1,407,327...1,421,448
Ensembl chrNW_004936709:1,407,278...1,421,921
JBrowse link
G Tnfrsf1b TNF receptor superfamily member 1B ISO RGD PMID:8548330 RGD:12904035 NCBI chrNW_004936474:908,414...935,765
Ensembl chrNW_004936474:908,485...934,177
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_004936687:2,346,601...2,595,283
Ensembl chrNW_004936687:2,503,777...2,597,522
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 treatment
severity
ISO mRNA, protein:increased expression:endometrium RGD PMID:31596310 RGD:126925216 NCBI chrNW_004936482:17,537,697...17,581,320
Ensembl chrNW_004936482:17,538,864...17,581,002
JBrowse link
G Vegfa vascular endothelial growth factor A ISO mRNA, protein:increased expression:endometrium RGD PMID:31596310 RGD:126925216 NCBI chrNW_004936476:16,245,134...16,261,180
Ensembl chrNW_004936476:16,247,100...16,260,673
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_004936504:5,985,407...5,987,453
Ensembl chrNW_004936504:5,985,960...5,987,210
JBrowse link
G Epo erythropoietin treatment ISO RGD PMID:20818790 RGD:10395393 NCBI chrNW_004936543:742,722...745,332
Ensembl chrNW_004936543:743,537...745,343
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_004936598:3,220,029...3,256,091
Ensembl chrNW_004936598:3,219,991...3,261,629
JBrowse link
G Il1b interleukin 1 beta ISO protein:increased expression:neocortex RGD PMID:17678975 RGD:1626641 NCBI chrNW_004936783:1,251,678...1,256,807
Ensembl chrNW_004936783:1,252,158...1,257,165
JBrowse link
G Insr insulin receptor severity ISO protein:increased expression:cerebrospinal fluid, plasma RGD PMID:22629383 RGD:10403033 NCBI chrNW_004936588:4,345,306...4,453,380
Ensembl chrNW_004936588:4,345,306...4,453,668
JBrowse link
G Irs1 insulin receptor substrate 1 severity ISO protein:decreased tyrosine phosphorylation:cerebrospinal fluid, leukocyte RGD PMID:22629383 RGD:10403033 NCBI chrNW_004936525:9,064,442...9,125,972
Ensembl chrNW_004936525:9,064,466...9,122,635
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_004936757:1,642,122...1,646,499
Ensembl chrNW_004936757:1,642,222...1,645,697
JBrowse link
G Npy neuropeptide Y severity ISO protein:increased expression:cerebrospinal fluid RGD PMID:8815163 RGD:10431910 NCBI chrNW_004936478:1,289,437...1,296,819
Ensembl chrNW_004936478:1,290,505...1,296,874
JBrowse link
G Oprm1 opioid receptor mu 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27400929 NCBI chrNW_004936489:6,506,207...6,567,136
Ensembl chrNW_004936489:6,506,207...6,548,946
JBrowse link
G Pdgfb platelet derived growth factor subunit B ISO RGD PMID:21368226 RGD:6482787 NCBI chrNW_004936492:2,353,840...2,368,573
Ensembl chrNW_004936492:2,353,841...2,368,573
JBrowse link
G Slc6a4 solute carrier family 6 member 4 ISO RGD PMID:25404050 RGD:38676266 NCBI chrNW_004936538:6,205,268...6,239,062
Ensembl chrNW_004936538:6,205,251...6,239,083
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_004936479:13,252,678...13,255,570
Ensembl chrNW_004936479:13,252,678...13,255,570
JBrowse link
G Egf epidermal growth factor ISO RGD PMID:19357719 RGD:6906909 NCBI chrNW_004936563:1,058,803...1,181,393 JBrowse link
G LOC101976500 haptoglobin ISO protein:increased expression:urine RGD PMID:19279121 RGD:11041816 NCBI chrNW_004936475:21,841,054...21,845,821 JBrowse link
G Mtor mechanistic target of rapamycin kinase ISO RGD PMID:23678040 RGD:7245474 NCBI chrNW_004936474:158,376...282,310
Ensembl chrNW_004936474:157,590...282,342
JBrowse link
G Myh9 myosin heavy chain 9 ISO protein:decreased expression:glomerulus RGD PMID:22313957 RGD:6903274 NCBI chrNW_004936492:4,384,215...4,466,229
Ensembl chrNW_004936492:4,384,215...4,466,262
JBrowse link
G Notch4 notch receptor 4 ISO protein: increased expression: kidney RGD PMID:20706108 RGD:6480788 NCBI chrNW_004936727:1,386,842...1,409,823 JBrowse link
G Nphs1 NPHS1 adhesion molecule, nephrin treatment ISO RGD PMID:17229913 PMID:19188342 RGD:38596324 RGD:38599164 NCBI chrNW_004936570:495,421...514,179
Ensembl chrNW_004936570:494,971...513,874
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_004936497:2,209,136...2,373,580
Ensembl chrNW_004936497:2,210,334...2,210,921
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_004936709:997,776...1,022,791
Ensembl chrNW_004936709:997,750...1,022,884
JBrowse link
G Tnfrsf8 TNF receptor superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9379333 NCBI chrNW_004936474:814,510...889,851 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_004936483:14,974,053...15,079,824
Ensembl chrNW_004936483:14,974,035...15,074,154
JBrowse link
G Adamtsl3 ADAMTS like 3 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004936483:18,191,568...18,523,988
Ensembl chrNW_004936483:18,193,198...18,522,028
JBrowse link
G Adarb2 adenosine deaminase RNA specific B2 (inactive) ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004936484:12,400,903...12,876,572
Ensembl chrNW_004936484:12,401,502...12,875,689
JBrowse link
G Ahctf1 AT-hook containing transcription factor 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004936526:4,143,002...4,209,689
Ensembl chrNW_004936526:4,142,566...4,209,791
JBrowse link
G Amelx amelogenin X-linked ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004936470:1,169,906...1,174,166
Ensembl chrNW_004936470:1,169,906...1,179,604
JBrowse link
G Amfr autocrine motility factor receptor ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004936475:8,692,969...8,727,252
Ensembl chrNW_004936475:8,692,844...8,727,385
JBrowse link
G Ankrd24 ankyrin repeat domain 24 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004936588:2,403,454...2,419,279 JBrowse link
G Anos1 anosmin 1 ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:25741868 PMID:27657687 PMID:28492532 PMID:32870266 NCBI chrNW_004936644:722,849...839,723
Ensembl chrNW_004936644:723,473...837,320
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_004936483:17,301,969...17,336,962
Ensembl chrNW_004936483:17,298,291...17,337,578
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_004936588:2,124,286...2,130,085
Ensembl chrNW_004936588:2,124,396...2,130,085
JBrowse link
G Apc APC regulator of WNT signaling pathway ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004936531:6,899,580...7,019,016
Ensembl chrNW_004936531:6,899,788...7,019,453
JBrowse link
G Arhgap6 Rho GTPase activating protein 6 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004936470:1,048,145...1,501,970
Ensembl chrNW_004936470:1,049,461...1,500,877
JBrowse link
G Arsa arylsulfatase A ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004936629:187,281...205,493
Ensembl chrNW_004936629:187,275...191,008
JBrowse link
G Asmtl acetylserotonin O-methyltransferase like ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004936644:3,775,940...3,789,377 JBrowse link
G Atcay ATCAY kinesin light chain interacting caytaxin ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004936588:2,196,556...2,226,489
Ensembl chrNW_004936588:2,196,580...2,229,202
JBrowse link
G Atp10b ATPase phospholipid transporting 10B (putative) ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004936515:2,885,522...2,995,763
Ensembl chrNW_004936515:2,885,522...2,995,709
JBrowse link
G Aven apoptosis and caspase activation inhibitor ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004936673:2,434,984...2,568,868
Ensembl chrNW_004936673:2,435,308...2,565,180
JBrowse link
G Axl AXL receptor tyrosine kinase ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:25741868 PMID:28492532 PMID:32870266 NCBI chrNW_004936661:3,658,140...3,687,290
Ensembl chrNW_004936661:3,657,831...3,687,816
JBrowse link
G Bmp15 bone morphogenetic protein 15 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004936873:109,156...115,498 JBrowse link
G Bmp4 bone morphogenetic protein 4 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004936697:1,054,237...1,061,468
Ensembl chrNW_004936697:1,056,636...1,061,468
JBrowse link
G Bnc1 basonuclin zinc finger protein 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004936483:17,900,189...17,911,925
Ensembl chrNW_004936483:17,900,189...17,911,948
JBrowse link
G Btbd1 BTB domain containing 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004936483:17,665,324...17,702,411
Ensembl chrNW_004936483:17,664,884...17,702,464
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_004936690:1,184,644...1,223,732 JBrowse link
G Ccdc148 coiled-coil domain containing 148 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004936469:20,225,383...20,428,417
Ensembl chrNW_004936469:20,231,781...20,426,027
JBrowse link
G Ccser1 coiled-coil serine rich protein 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004936685:2,454,676...3,085,583
Ensembl chrNW_004936685:2,597,307...3,072,582
JBrowse link
G Cd1e CD1e molecule ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004936740:1,990,876...1,993,639 JBrowse link
G Cdk13 cyclin dependent kinase 13 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004936478:15,296,055...15,387,749
Ensembl chrNW_004936478:15,296,055...15,388,309
JBrowse link
G Chaf1a chromatin assembly factor 1 subunit A ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004936588:2,536,141...2,564,897
Ensembl chrNW_004936588:2,542,265...2,564,962
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_004936496:12,381,225...12,505,121
Ensembl chrNW_004936496:12,381,126...12,505,150
JBrowse link
G Cntln centlein ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004936771:91,834...405,436
Ensembl chrNW_004936771:91,750...405,501
JBrowse link
G Cpb2 carboxypeptidase B2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16167916 NCBI chrNW_004936857:577,067...609,855
Ensembl chrNW_004936857:577,585...626,267
JBrowse link
G Cpeb1 cytoplasmic polyadenylation element binding protein 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004936483:17,216,288...17,296,430
Ensembl chrNW_004936483:17,216,213...17,294,534
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_004936588:2,378,802...2,386,490
Ensembl chrNW_004936588:2,378,802...2,386,431
JBrowse link
G CUNH15orf40 chromosome unknown C15orf40 homolog ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004936483:17,654,996...17,660,204
Ensembl chrNW_004936483:17,653,350...17,660,226
JBrowse link
G Dapk3 death associated protein kinase 3 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004936588:2,246,142...2,257,733
Ensembl chrNW_004936588:2,244,708...2,257,779
JBrowse link
G Dcc DCC netrin 1 receptor ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:24808016 PMID:25741868 PMID:32870266 NCBI chrNW_004936497:10,122,078...11,169,900
Ensembl chrNW_004936497:10,122,617...11,169,803
JBrowse link
G Ddx1 DEAD-box helicase 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004936493:14,884,532...14,918,621
Ensembl chrNW_004936493:14,884,442...14,918,823
JBrowse link
G Dennd6a DENN domain containing 6A ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004936473:7,939,992...8,010,304
Ensembl chrNW_004936473:7,939,971...8,010,628
JBrowse link
G Diaph2 diaphanous related formin 2 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004936584:2,286,919...3,081,652
Ensembl chrNW_004936584:2,287,288...3,076,788
JBrowse link
G Dlc1 DLC1 Rho GTPase activating protein ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004936573:2,493,051...2,658,396
Ensembl chrNW_004936573:2,492,875...2,658,714
JBrowse link
G Dmxl2 Dmx like 2 ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:28492532 PMID:32870266 NCBI chrNW_004936471:13,330,870...13,483,610
Ensembl chrNW_004936471:13,329,622...13,483,937
JBrowse link
G Dusp19 dual specificity phosphatase 19 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004936509:11,653,282...11,670,425
Ensembl chrNW_004936509:11,653,199...11,672,476
JBrowse link
G Dusp22 dual specificity phosphatase 22 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004936633:1,459,487...1,528,080
Ensembl chrNW_004936633:1,459,386...1,528,082
JBrowse link
G Ebi3 Epstein-Barr virus induced 3 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004936588:2,420,859...2,425,473
Ensembl chrNW_004936588:2,421,934...2,425,207
JBrowse link
G Eef2 eukaryotic translation elongation factor 2 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004936588:2,259,236...2,267,692
Ensembl chrNW_004936588:2,258,309...2,266,609
JBrowse link
G Eri1 exoribonuclease 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004936573:1,448,325...1,474,753 JBrowse link
G Fam120b family with sequence similarity 120 member B ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004937098:144,870...212,620
Ensembl chrNW_004937098:145,094...212,301
JBrowse link
G Fezf1 FEZ family zinc finger 1 ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:32870266 NCBI chrNW_004936605:3,027,138...3,030,442
Ensembl chrNW_004936605:3,027,122...3,030,449
JBrowse link
G Fgfr1 fibroblast growth factor receptor 1 ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:32870266 NCBI chrNW_004936710:1,760,365...1,815,269
Ensembl chrNW_004936710:1,760,089...1,815,508
JBrowse link
G Fhit fragile histidine triad diadenosine triphosphatase ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004936473:397,140...1,424,805
Ensembl chrNW_004936473:676,237...1,424,506
JBrowse link
G Flrt3 fibronectin leucine rich transmembrane protein 3 ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:32870266 NCBI chrNW_004936485:5,532,554...5,547,430
Ensembl chrNW_004936485:5,532,853...5,546,392
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_004936588:2,461,582...2,469,373
Ensembl chrNW_004936588:2,461,411...2,469,507
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_004936483:17,420,009...17,465,269
Ensembl chrNW_004936483:17,422,102...17,451,465
JBrowse link
G Fshb follicle stimulating hormone subunit beta ISO CTD Direct Evidence: marker/mechanism
follicle-stimulating hormone deficiency,OMIM:229070;DNA:frameshift
CTD
RGD
PMID:8220432 RGD:1601221 NCBI chrNW_004936533:7,395,206...7,397,266
Ensembl chrNW_004936533:7,395,206...7,397,266
JBrowse link
G Fshr follicle stimulating hormone receptor ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:25741868 NCBI chrNW_004936508:3,601,205...3,754,234
Ensembl chrNW_004936508:3,601,315...3,753,706
JBrowse link
G Fzd6 frizzled class receptor 6 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004936470:40,416,254...40,454,717
Ensembl chrNW_004936470:40,416,014...40,454,062
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_004936515:2,127,107...2,359,697
Ensembl chrNW_004936515:2,127,693...2,355,090
JBrowse link
G Gadl1 glutamate decarboxylase like 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004936473:21,430,668...21,563,241
Ensembl chrNW_004936473:21,431,071...21,563,226
JBrowse link
G Gnrh1 gonadotropin releasing hormone 1 ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:32870266 NCBI chrNW_004936757:1,282,185...1,285,804
Ensembl chrNW_004936757:1,282,185...1,285,832
JBrowse link
G Gnrhr gonadotropin releasing hormone receptor ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:9371856 PMID:9425890 PMID:10022417 PMID:10084584 PMID:10523035 More... NCBI chrNW_004936582:749,016...765,189
Ensembl chrNW_004936582:749,016...765,189
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_004936474:26,750,548...26,774,215
Ensembl chrNW_004936474:26,751,301...26,774,180
JBrowse link
G Gpr37l1 G protein-coupled receptor 37 like 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004936567:2,408,326...2,414,411
Ensembl chrNW_004936567:2,407,339...2,414,437
JBrowse link
G Gxylt1 glucoside xylosyltransferase 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004936512:880,458...929,833
Ensembl chrNW_004936512:880,999...908,683
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_004936473:7,545,982...7,572,222
Ensembl chrNW_004936473:7,545,839...7,548,013
JBrowse link
G Homer2 homer scaffold protein 2 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004936483:17,500,962...17,634,804
Ensembl chrNW_004936483:17,507,533...17,539,105
JBrowse link
G Ipp intracisternal A particle-promoted polypeptide ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004936474:26,802,467...26,834,449
Ensembl chrNW_004936474:26,801,546...26,835,116
JBrowse link
G Kbtbd12 kelch repeat and BTB domain containing 12 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004936798:598,027...618,672 JBrowse link
G Kl klotho ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:25741868 PMID:32870266 NCBI chrNW_004936472:27,604,681...27,649,613
Ensembl chrNW_004936472:27,604,517...27,650,086
JBrowse link
G Klb klotho beta ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:32870266 NCBI chrNW_004936482:7,026,871...7,060,495
Ensembl chrNW_004936482:7,026,871...7,059,848
JBrowse link
G Lhx3 LIM homeobox 3 ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:32870266 NCBI chrNW_004936669:1,561,433...1,573,074
Ensembl chrNW_004936669:1,564,102...1,573,047
JBrowse link
G LOC101954950 aromatase ISO CTD Direct Evidence: marker/mechanism CTD PMID:8265607 NCBI chrNW_004936471:13,107,603...13,136,910
Ensembl chrNW_004936471:13,107,603...13,136,910
JBrowse link
G LOC101957203 general transcription factor IIH subunit 2 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004936480:72,730...92,868 JBrowse link
G LOC101965545 NADPH--cytochrome P450 reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:14758361 NCBI chrNW_004936543:2,275,981...2,327,931
Ensembl chrNW_004936543:2,274,059...2,328,008
JBrowse link
G LOC101966363 monocarboxylate transporter 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004936690:1,448,289...1,461,525
Ensembl chrNW_004936690:1,450,092...1,461,481
JBrowse link
G LOC101970767 steroid 17-alpha-hydroxylase/17,20 lyase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18645707 NCBI chrNW_004936600:3,097,620...3,102,713
Ensembl chrNW_004936600:3,097,638...3,102,713
JBrowse link
G LOC101973029 cytochrome P450 2E1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004936486:19,691,822...19,702,684
Ensembl chrNW_004936486:19,691,822...19,702,102
JBrowse link
G LOC101977061 B cell receptor associated protein 29 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004936479:16,502,581...16,542,288
Ensembl chrNW_004936479:16,502,872...16,541,760
Ensembl chrNW_004936479:16,502,872...16,541,760
JBrowse link
G Lrg1 leucine rich alpha-2-glycoprotein 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004936588:2,638,597...2,640,856
Ensembl chrNW_004936588:2,638,601...2,640,868
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_004936690:1,591,741...1,642,183
Ensembl chrNW_004936690:1,591,965...1,641,544
JBrowse link
G Macrod2 mono-ADP ribosylhydrolase 2 ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:32870266 NCBI chrNW_004936485:3,917,060...5,859,527
Ensembl chrNW_004936485:3,919,525...5,859,251
JBrowse link
G Map2k2 mitogen-activated protein kinase kinase 2 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004936588:2,338,127...2,377,090
Ensembl chrNW_004936588:2,336,858...2,377,090
JBrowse link
G Mast2 microtubule associated serine/threonine kinase 2 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004936474:26,905,217...27,090,886
Ensembl chrNW_004936474:26,905,083...27,091,333
JBrowse link
G Matk megakaryocyte-associated tyrosine kinase ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004936588:2,137,987...2,144,274
Ensembl chrNW_004936588:2,137,663...2,144,512
JBrowse link
G Mgll monoglyceride lipase ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004936798:681,549...721,645
Ensembl chrNW_004936798:681,380...724,463
JBrowse link
G Mov10 Mov10 RNA helicase ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004936690:1,229,249...1,254,754 JBrowse link
G Mpnd MPN domain containing ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004936588:2,491,059...2,504,076
Ensembl chrNW_004936588:2,496,506...2,503,959
JBrowse link
G Mrpl54 mitochondrial ribosomal protein L54 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004936588:2,131,291...2,133,349
Ensembl chrNW_004936588:2,131,286...2,133,341
JBrowse link
G Msl3 MSL complex subunit 3 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004936470:1,572,037...1,587,002
Ensembl chrNW_004936470:1,572,014...1,587,011
JBrowse link
G Mycn MYCN proto-oncogene, bHLH transcription factor ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004936493:14,618,176...14,624,201
Ensembl chrNW_004936493:14,618,060...14,624,315
JBrowse link
G Naip NLR family apoptosis inhibitory protein ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004936549:5,000,526...5,069,110 JBrowse link
G Nbas NBAS subunit of NRZ tethering complex ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004936493:14,940,592...15,241,209
Ensembl chrNW_004936493:14,943,926...15,241,070
JBrowse link
G Ncam2 neural cell adhesion molecule 2 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004936822:1,033,660...1,189,131
Ensembl chrNW_004936822:1,036,205...1,189,028
JBrowse link
G Nckap5 NCK associated protein 5 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004936469:56,199,988...56,762,974
Ensembl chrNW_004936469:56,199,522...57,025,906
JBrowse link
G Nkx2-6 NK2 homeobox 6 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004936555:7,111,678...7,114,944
Ensembl chrNW_004936555:7,111,678...7,114,944
JBrowse link
G Nkx3-1 NK3 homeobox 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004936555:7,087,677...7,091,334
Ensembl chrNW_004936555:7,088,577...7,091,334
JBrowse link
G Nmrk2 nicotinamide riboside kinase 2 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004936588:2,229,869...2,234,573
Ensembl chrNW_004936588:2,231,269...2,234,412
JBrowse link
G Nup35 nucleoporin 35 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004936509:11,681,038...11,798,620
Ensembl chrNW_004936509:11,681,099...11,726,739
JBrowse link
G Ocln occludin ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004936480:99,516...152,834
Ensembl chrNW_004936480:98,371...152,413
JBrowse link
G Otud4 OTU deubiquitinase 4 ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:25741868 PMID:32870266 NCBI chrNW_004936535:3,911,904...3,950,675
Ensembl chrNW_004936535:3,912,606...3,951,503
JBrowse link
G P2ry8 P2Y receptor family member 8 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004936644:3,768,646...3,770,610
Ensembl chrNW_004936644:3,768,463...3,770,500
JBrowse link
G Pcsk5 proprotein convertase subtilisin/kexin type 5 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004936503:11,466,955...11,896,887
Ensembl chrNW_004936503:11,466,950...11,896,887
JBrowse link
G Pias4 protein inhibitor of activated STAT 4 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004936588:2,287,941...2,302,875
Ensembl chrNW_004936588:2,287,996...2,302,691
JBrowse link
G Plin4 perilipin 4 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004936588:2,615,251...2,626,991 JBrowse link
G Plin5 perilipin 5 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004936588:2,629,762...2,637,303
Ensembl chrNW_004936588:2,629,762...2,636,983
JBrowse link
G Pnpla4 patatin like phospholipase domain containing 4 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004936644:1,091,794...1,113,621
Ensembl chrNW_004936644:1,093,388...1,112,557
JBrowse link
G Pnpla6 patatin like phospholipase domain containing 6 ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:28492532 PMID:32870266 NCBI chrNW_004936588:4,608,856...4,632,198
Ensembl chrNW_004936588:4,608,963...4,632,183
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_004936492:8,415,997...8,544,149
Ensembl chrNW_004936492:8,415,997...8,541,762
JBrowse link
G Ppm1j protein phosphatase, Mg2+/Mn2+ dependent 1J ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004936690:1,263,949...1,269,707
Ensembl chrNW_004936690:1,263,925...1,269,764
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_004936518:1,817,051...1,843,376
Ensembl chrNW_004936518:1,804,969...1,843,380
JBrowse link
G Prl prolactin ISO CTD Direct Evidence: marker/mechanism CTD PMID:6777091 NCBI chrNW_004936552:7,204,298...7,212,632 JBrowse link
G Prok2 prokineticin 2 ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:32870266 NCBI chrNW_004936603:3,299,736...3,419,539
Ensembl chrNW_004936603:3,299,736...3,310,011
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_004936485:13,620,000...13,632,134
Ensembl chrNW_004936485:13,619,835...13,632,881
JBrowse link
G Prop1 PROP paired-like homeobox 1 ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:28492532 PMID:32870266 PMID:36407308 PMID:38096238 NCBI chrNW_004936739:1,854,072...1,856,657
Ensembl chrNW_004936739:1,854,072...1,856,657
JBrowse link
G Psmb1 proteasome 20S subunit beta 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004937098:67,298...80,019
Ensembl chrNW_004937098:66,832...81,708
JBrowse link
G Ptchd1 patched domain containing 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004936624:1,072,857...1,125,962
Ensembl chrNW_004936624:1,072,857...1,125,994
JBrowse link
G Pudp pseudouridine 5'-phosphatase ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004936644:1,427,003...1,460,421 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_004936469:40,642,240...40,727,831
Ensembl chrNW_004936469:40,641,928...40,727,837
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_004936650:1,944,291...2,054,847
Ensembl chrNW_004936650:1,944,346...2,056,665
JBrowse link
G Ramac RNA guanine-7 methyltransferase activating subunit ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004936483:17,634,873...17,643,740 JBrowse link
G Rax2 retina and anterior neural fold homeobox 2 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004936588:2,133,398...2,135,329
Ensembl chrNW_004936588:2,134,211...2,135,358
JBrowse link
G Rhoc ras homolog family member C ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004936690:1,255,126...1,258,288 JBrowse link
G Rreb1 ras responsive element binding protein 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004936534:5,321,488...5,390,612
Ensembl chrNW_004936534:5,324,430...5,385,707
JBrowse link
G Ryr3 ryanodine receptor 3 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004936673:2,078,095...2,434,872
Ensembl chrNW_004936673:1,932,755...2,434,066
JBrowse link
G Sema3e semaphorin 3E ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:25741868 PMID:28492532 PMID:32870266 NCBI chrNW_004936734:1,850,709...2,085,541
Ensembl chrNW_004936734:1,850,673...2,084,891
JBrowse link
G Sema6b semaphorin 6B ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004936588:2,642,730...2,654,520
Ensembl chrNW_004936588:2,642,859...2,653,742
JBrowse link
G Serf1a small EDRK-rich factor 1A ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004936549:4,948,120...4,956,467
Ensembl chrNW_004936549:4,948,002...4,956,813
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_004936588:2,504,372...2,535,993
Ensembl chrNW_004936588:2,504,374...2,536,011
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_004936483:18,051,023...18,176,514
Ensembl chrNW_004936483:18,050,899...18,176,519
JBrowse link
G Shank3 SH3 and multiple ankyrin repeat domains 3 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004936629:114,175...168,697
Ensembl chrNW_004936629:114,850...167,505
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_004936588:2,447,133...2,454,511
Ensembl chrNW_004936588:2,447,947...2,454,591
JBrowse link
G Sirt6 sirtuin 6 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004936588:2,387,162...2,394,066
Ensembl chrNW_004936588:2,386,977...2,394,096
JBrowse link
G Slc5a5 solute carrier family 5 member 5 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004936596:3,176,009...3,188,637
Ensembl chrNW_004936596:3,177,422...3,188,637
JBrowse link
G Slmap sarcolemma associated protein ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004936473:8,057,236...8,208,564
Ensembl chrNW_004936473:8,057,042...8,209,087
JBrowse link
G Smyd3 SET and MYND domain containing 3 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004936526:4,536,157...5,218,883
Ensembl chrNW_004936526:4,536,142...5,218,657
JBrowse link
G Sox2 SRY-box transcription factor 2 ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:28492532 PMID:32870266 NCBI chrNW_004936566:1,630,698...1,632,607
Ensembl chrNW_004936566:1,631,822...1,632,613
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_004936504:11,907,667...11,922,487
Ensembl chrNW_004936504:11,907,681...11,922,469
JBrowse link
G Stap2 signal transducing adaptor family member 2 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004936588:2,469,550...2,476,921
Ensembl chrNW_004936588:2,469,511...2,476,940
JBrowse link
G Sts steroid sulfatase ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004936644:1,328,327...1,395,856
Ensembl chrNW_004936644:1,325,713...1,395,923
JBrowse link
G Syce1 synaptonemal complex central element protein 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004936486:19,723,354...19,731,175
Ensembl chrNW_004936486:19,723,627...19,727,770
JBrowse link
G Tafa3 TAFA chemokine like family member 3 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004936690:1,273,255...1,281,362
Ensembl chrNW_004936690:1,274,868...1,284,991
JBrowse link
G Tbp TATA-box binding protein ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004937098:46,572...65,304
Ensembl chrNW_004937098:46,248...65,441
JBrowse link
G Tjp3 tight junction protein 3 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004936588:2,112,352...2,124,204
Ensembl chrNW_004936588:2,100,712...2,124,107
JBrowse link
G Tm6sf1 transmembrane 6 superfamily member 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004936483:17,742,721...17,770,165
Ensembl chrNW_004936483:17,742,721...17,771,697
JBrowse link
G Tmem69 transmembrane protein 69 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004936474:26,793,410...26,799,451
Ensembl chrNW_004936474:26,795,499...26,801,242
JBrowse link
G Tp63 tumor protein p63 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004936578:492,267...705,282
Ensembl chrNW_004936578:491,507...705,729
JBrowse link
G Tshz2 teashirt zinc finger homeobox 2 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004936514:2,117,409...2,362,596
Ensembl chrNW_004936514:1,936,299...2,361,599
JBrowse link
G Ubxn6 UBX domain protein 6 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004936588:2,565,473...2,578,721
Ensembl chrNW_004936588:2,565,461...2,578,624
JBrowse link
G Vldlr very low density lipoprotein receptor ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004936503:2,407,040...2,440,366
Ensembl chrNW_004936503:2,405,689...2,440,502
JBrowse link
G Wdr11 WD repeat domain 11 ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:32870266 NCBI chrNW_004936486:10,007,728...10,061,640
Ensembl chrNW_004936486:10,007,715...10,064,327
JBrowse link
G Wdr37 WD repeat domain 37 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004936484:12,948,803...13,020,555
Ensembl chrNW_004936484:12,948,358...13,018,631
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_004936483:17,469,758...17,492,791
Ensembl chrNW_004936483:17,471,162...17,492,152
JBrowse link
G Xpo1 exportin 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004936491:6,921,753...6,962,062
Ensembl chrNW_004936491:6,921,319...6,962,343
JBrowse link
G Yaf2 YY1 associated factor 2 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004936512:927,751...1,001,515
Ensembl chrNW_004936512:928,893...1,002,061
JBrowse link
G Yju2 YJU2 splicing factor homolog ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004936588:2,426,786...2,438,811
Ensembl chrNW_004936588:2,427,126...2,440,939
JBrowse link
G Zbtb7a zinc finger and BTB domain containing 7A ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004936588:2,310,975...2,321,790
Ensembl chrNW_004936588:2,311,727...2,321,372
JBrowse link
G Zfr2 zinc finger RNA binding protein 2 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004936588:2,154,277...2,175,308
Ensembl chrNW_004936588:2,154,247...2,192,363
JBrowse link
G Znf217 zinc finger protein 217 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004936514:1,881,034...1,894,466
Ensembl chrNW_004936514:1,867,840...1,894,483
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_004936525:8,238,128...8,240,974
Ensembl chrNW_004936525:8,237,831...8,240,974
JBrowse link
G Cd8a CD8 subunit alpha ISO mRNA:decreased expression:zone of skin (human) RGD PMID:25774455 RGD:36174028 NCBI chrNW_004936712:885,301...891,247
Ensembl chrNW_004936712:885,458...890,852
JBrowse link
G Ctla4 cytotoxic T-lymphocyte associated protein 4 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chrNW_004936631:484,356...489,643
Ensembl chrNW_004936631:484,356...489,643
JBrowse link
G Foxp3 forkhead box P3 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chrNW_004936721:1,118,376...1,125,282
Ensembl chrNW_004936721:1,118,782...1,132,308
JBrowse link
G Il10 interleukin 10 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chrNW_004936557:5,834,874...5,838,502
Ensembl chrNW_004936557:5,834,874...5,838,502
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_004936515:4,056,214...4,066,121
Ensembl chrNW_004936515:4,056,214...4,065,076
JBrowse link
G Il2 interleukin 2 ISO protein:decreased expression:peripheral blood mononuclear cells (human) RGD PMID:23754510 RGD:40400714 NCBI chrNW_004936662:1,594,953...1,599,625
Ensembl chrNW_004936662:1,594,953...1,599,625
JBrowse link
G Il21 interleukin 21 ISO protein:decreased expression:blood serum (human) RGD PMID:31414711 RGD:127285371 NCBI chrNW_004936662:1,689,879...1,696,883
Ensembl chrNW_004936662:1,689,879...1,696,883
JBrowse link
G Il6 interleukin 6 ISO protein:decreased expression:peripheral blood mononuclear cells (human) RGD PMID:23754510 RGD:40400714 NCBI chrNW_004936549:7,015,595...7,016,246 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_004936728:1,775,746...1,893,895
Ensembl chrNW_004936728:1,775,641...1,893,907
JBrowse link
G Myd88 MYD88 innate immune signal transduction adaptor ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chrNW_004936473:27,672,237...27,676,339
Ensembl chrNW_004936473:27,671,797...27,676,372
JBrowse link
G Pdcd1 programmed cell death 1 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chrNW_004936745:152,571...163,712
Ensembl chrNW_004936745:152,612...161,587
JBrowse link
G Ptpn11 protein tyrosine phosphatase non-receptor type 11 ISO protein:increased expression:foreskin RGD PMID:18543080 RGD:39128248 NCBI chrNW_004936668:2,602,261...2,687,903
Ensembl chrNW_004936668:2,628,706...2,682,448
JBrowse link
G Ptpn6 protein tyrosine phosphatase non-receptor type 6 ISO protein:increased expression:foreskin RGD PMID:18543080 RGD:39128248 NCBI chrNW_004936709:864,206...884,630
Ensembl chrNW_004936709:864,197...884,610
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_004936538:7,885,816...7,898,308
Ensembl chrNW_004936538:7,885,475...7,899,113
JBrowse link
G Tgfb1 transforming growth factor beta 1 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chrNW_004936661:3,742,080...3,758,266
Ensembl chrNW_004936661:3,742,066...3,758,272
JBrowse link
G Tlr2 toll like receptor 2 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chrNW_004936576:522,234...531,660
Ensembl chrNW_004936576:527,434...529,788
JBrowse link
G Tlr3 toll like receptor 3 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chrNW_004936554:3,370,766...3,388,125
Ensembl chrNW_004936554:3,369,469...3,385,907
JBrowse link
G Tlr4 toll like receptor 4 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chrNW_004936487:6,519,140...6,532,018
Ensembl chrNW_004936487:6,518,441...6,533,095
JBrowse link
G Tlr7 toll like receptor 7 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chrNW_004936470:2,593,544...2,610,972
Ensembl chrNW_004936470:2,607,508...2,610,675
JBrowse link
G Tlr8 toll like receptor 8 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chrNW_004936470:2,638,020...2,642,201
Ensembl chrNW_004936470:2,638,014...2,641,133
JBrowse link
G Tnf tumor necrosis factor ISO protein:increased expression:peripheral blood mononuclear cells (human) RGD PMID:23754510 RGD:40400714 NCBI chrNW_004936727:1,936,066...1,937,766
Ensembl chrNW_004936727:1,936,066...1,937,766
JBrowse link
G Tnfrsf18 TNF receptor superfamily member 18 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chrNW_004936737:1,905,307...1,910,356 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_004936567:4,084,161...4,194,858
Ensembl chrNW_004936567:4,084,608...4,212,854
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 OMIM
ClinVar
PMID:25741868 PMID:37751738 NCBI chrNW_004936499:246,042...335,440
Ensembl chrNW_004936499:246,042...335,440
JBrowse link
Asthenozoospermia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bscl2 BSCL2 lipid droplet biogenesis associated, seipin ISO CTD Direct Evidence: marker/mechanism CTD PMID:26181198 NCBI chrNW_004936581:567,426...576,859
Ensembl chrNW_004936581:567,662...578,267
JBrowse link
G Cfap251 cilia and flagella associated protein 251 ISO ClinVar Annotator: match by term: asthenozoospermia ClinVar PMID:30122541 NCBI chrNW_004936558:2,425,768...2,493,311 JBrowse link
G Fam83f family with sequence similarity 83 member F ISO ClinVar Annotator: match by term: asthenozoospermia ClinVar PMID:25741868 NCBI chrNW_004936492:1,697,759...1,739,830
Ensembl chrNW_004936492:1,713,327...1,739,823
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_004936521:5,238,128...5,243,829
Ensembl chrNW_004936521:5,238,093...5,243,877
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_004936844:552,729...619,429
Ensembl chrNW_004936844:554,171...619,429
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_004936589:1,565,933...1,719,208 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_004936563:3,233,913...3,296,671
Ensembl chrNW_004936563:3,235,181...3,296,257
JBrowse link
G Ank2 ankyrin 2 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chrNW_004936563:3,520,195...4,170,716
Ensembl chrNW_004936563:3,520,193...4,171,362
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_004936563:3,108,242...3,144,957
Ensembl chrNW_004936563:3,108,197...3,144,980
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_004936563:3,011,476...3,048,477
Ensembl chrNW_004936563:3,011,502...3,047,875
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_004936563:3,455,205...3,474,955
Ensembl chrNW_004936563:3,455,045...3,475,417
JBrowse link
G Neurog2 neurogenin 2 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chrNW_004936563:3,348,052...3,350,623
Ensembl chrNW_004936563:3,348,052...3,350,623
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_004936563:1,713,294...1,732,431 JBrowse link
G Prdm5 PR/SET domain 5 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:26489929 NCBI chrNW_004936662:388,279...524,803
Ensembl chrNW_004936662:390,894...516,485
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_004936563:3,151,515...3,159,071
Ensembl chrNW_004936563:3,152,049...3,158,999
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_004936563:3,372,603...3,455,123 JBrowse link
azoospermia 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:20610805 NCBI chrNW_004936497:2,209,136...2,373,580
Ensembl chrNW_004936497:2,210,334...2,210,921
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_004936537:7,040,993...7,104,245 JBrowse link
G Bscl2 BSCL2 lipid droplet biogenesis associated, seipin ISO RGD PMID:25934999 RGD:11085488 NCBI chrNW_004936581:567,426...576,859
Ensembl chrNW_004936581:567,662...578,267
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_004936589:1,565,933...1,719,208 JBrowse link
G CUNH14orf39 chromosome unknown C14orf39 homolog ISO ClinVar Annotator: match by term: Azoospermia ClinVar PMID:33508233 NCBI chrNW_004936495:4,660,616...4,695,338
Ensembl chrNW_004936495:4,660,641...4,694,402
JBrowse link
G Ddx25 DEAD-box helicase 25 ISO ClinVar Annotator: match by term: Azoospermia ClinVar NCBI chrNW_004936572:6,301,347...6,322,640
Ensembl chrNW_004936572:6,301,347...6,321,542
JBrowse link
G Dmc1 DNA meiotic recombinase 1 ISO ClinVar Annotator: match by term: Azoospermia ClinVar NCBI chrNW_004936492:2,754,694...2,788,249
Ensembl chrNW_004936492:2,753,289...2,788,102
JBrowse link
G Epas1 endothelial PAS domain protein 1 ISO RGD PMID:14608355 RGD:734934 NCBI chrNW_004936508:5,855,748...5,938,879
Ensembl chrNW_004936508:5,855,732...5,938,856
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_004936706:1,854,938...1,867,521
Ensembl chrNW_004936706:1,852,359...1,867,745
JBrowse link
G Fahd1 fumarylacetoacetate hydrolase domain containing 1 ISO ClinVar Annotator: match by term: Azoospermia ClinVar NCBI chrNW_004936694:2,179,730...2,181,296 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_004936583:4,085,802...4,145,621 JBrowse link
G Gcna germ cell nuclear acidic peptidase ISO ClinVar Annotator: match by term: Azoospermia ClinVar PMID:35172124 NCBI chrNW_004936762:71,719...96,816 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_004936658:614,711...655,874
Ensembl chrNW_004936658:614,476...655,905
JBrowse link
G Henmt1 HEN methyltransferase 1 ISO ClinVar Annotator: match by term: Azoospermia ClinVar NCBI chrNW_004936704:242,262...256,739 JBrowse link
G Hfm1 helicase for meiosis 1 ISO ClinVar Annotator: match by term: Azoospermia ClinVar NCBI chrNW_004936537:7,606,025...7,741,219 JBrowse link
G Hsd17b10 hydroxysteroid 17-beta dehydrogenase 10 ISO mRNA:increased expression:testis RGD PMID:9851691 RGD:13792783 NCBI chrNW_004936751:399,743...402,200
Ensembl chrNW_004936751:399,701...402,344
JBrowse link
G Kash5 KASH domain containing 5 ISO ClinVar Annotator: match by term: Azoospermia ClinVar NCBI chrNW_004936664:3,268,824...3,300,689
Ensembl chrNW_004936664:3,275,669...3,297,605
JBrowse link
G Mcm8 minichromosome maintenance 8 homologous recombination repair factor ISO ClinVar Annotator: match by term: Azoospermia ClinVar NCBI chrNW_004936485:13,072,791...13,108,392
Ensembl chrNW_004936485:13,072,600...13,108,411
JBrowse link
G Mcmdc2 minichromosome maintenance domain containing 2 ISO ClinVar Annotator: match by term: Azoospermia ClinVar NCBI chrNW_004936496:7,149,501...7,182,771 JBrowse link
G Meiob meiosis specific with OB-fold ISO ClinVar Annotator: match by term: Azoospermia ClinVar NCBI chrNW_004936694:2,099,967...2,176,279
Ensembl chrNW_004936694:2,142,800...2,176,239
JBrowse link
G Mov10l1 Mov10 like RNA helicase 1 ISO ClinVar Annotator: match by term: Azoospermia ClinVar NCBI chrNW_004936629:631,368...693,598
Ensembl chrNW_004936629:633,418...693,598
JBrowse link
G Msh5 mutS homolog 5 ISO ClinVar Annotator: match by term: Azoospermia ClinVar NCBI chrNW_004936727:1,776,038...1,794,152
Ensembl chrNW_004936727:1,777,570...1,793,711
JBrowse link
G Pdha2 pyruvate dehydrogenase E1 subunit alpha 2 ISO ClinVar Annotator: match by term: Azoospermia ClinVar PMID:29581481 PMID:35172124 NCBI chrNW_004936717:2,377,982...2,379,137 JBrowse link
G Rec8 REC8 meiotic recombination protein ISO ClinVar Annotator: match by term: Azoospermia ClinVar NCBI chrNW_004936722:369,366...375,243
Ensembl chrNW_004936722:369,423...375,243
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_004936492:12,316,868...12,326,778
Ensembl chrNW_004936492:12,316,869...12,330,251
JBrowse link
G Tdrd9 tudor domain containing 9 ISO ClinVar Annotator: match by term: Azoospermia ClinVar NCBI chrNW_004936621:1,186,643...1,283,213
Ensembl chrNW_004936621:1,185,920...1,283,303
JBrowse link
G Tdrkh tudor and KH domain containing ISO ClinVar Annotator: match by term: Azoospermia ClinVar NCBI chrNW_004936580:1,968,001...1,982,073
Ensembl chrNW_004936580:1,967,639...1,982,134
JBrowse link
G Terb1 telomere repeat binding bouquet formation protein 1 ISO ClinVar Annotator: match by term: Azoospermia ClinVar NCBI chrNW_004936475:17,038,956...17,077,887
Ensembl chrNW_004936475:17,038,956...17,072,162
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_004936499:7,818,436...7,828,444
Ensembl chrNW_004936499:7,820,410...7,821,102
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_004936540:1,136,403...1,137,984
Ensembl chrNW_004936540:1,136,468...1,137,574
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_004936551:5,515,904...5,535,864 JBrowse link
G Birc3 baculoviral IAP repeat containing 3 ISO mRNA:increased expression:perianal skin (human) RGD PMID:20346172 RGD:152998971 NCBI chrNW_004936551:5,544,047...5,556,550
Ensembl chrNW_004936551:5,544,065...5,556,555
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_004936627:1,001,681...1,069,377
Ensembl chrNW_004936627:1,001,678...1,069,438
JBrowse link
G Cdx2 caudal type homeobox 2 ISO ClinVar Annotator: match by term: Sirenomelia ClinVar PMID:25741868 NCBI chrNW_004936472:23,137,936...23,141,205 JBrowse link
G Pcsk5 proprotein convertase subtilisin/kexin type 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18519639 NCBI chrNW_004936503:11,466,955...11,896,887
Ensembl chrNW_004936503:11,466,950...11,896,887
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_004936801:1,185,615...1,298,416
Ensembl chrNW_004936801:1,185,733...1,298,289
JBrowse link
G Vangl1 VANGL planar cell polarity protein 1 susceptibility 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_004936627:942,570...992,081
Ensembl chrNW_004936627:942,483...992,071
JBrowse link
G Zbtb16 zinc finger and BTB domain containing 16 ISO RGD PMID:27727328 RGD:40924666 NCBI chrNW_004936612:389,877...570,595
Ensembl chrNW_004936612:395,177...570,595
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_004936504:6,975,044...6,981,304
Ensembl chrNW_004936504:6,975,044...6,981,304
JBrowse link
G Tfrc transferrin receptor ISO protein:increased expression:uterine cervix RGD PMID:9739406 RGD:2292022 NCBI chrNW_004936784:696,738...728,385
Ensembl chrNW_004936784:696,713...728,543
JBrowse link
G Tp53 tumor protein p53 disease_progression ISO RGD PMID:17354237 RGD:2298527 NCBI chrNW_004936595:919,807...935,367
Ensembl chrNW_004936595:919,428...925,425
JBrowse link
cervical cancer term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ang angiogenin ISO protein:increased expression:serum RGD PMID:11299848 RGD:2325708 NCBI chrNW_004936880:39,372...40,070 JBrowse link
G Apex1 apurinic/apyrimidinic endodeoxyribonuclease 1 ISO DNA:polymorphism: :p.D148E (human) RGD PMID:18503157 PMID:19292061 RGD:2315657 RGD:2315662 NCBI chrNW_004936877:666,545...669,351
Ensembl chrNW_004936877:666,523...669,338
JBrowse link
G Api5 apoptosis inhibitor 5 disease_progression ISO mRNA:increased expression RGD PMID:10780674 RGD:1643340 NCBI chrNW_004936562:5,229,157...5,253,175
Ensembl chrNW_004936562:5,229,174...5,253,181
JBrowse link
G Bcl2l1 BCL2 like 1 ISO protein:increased expression:uterine cervix RGD PMID:17311011 RGD:1643476 NCBI chrNW_004936485:18,654,046...18,707,324 JBrowse link
G Birc2 baculoviral IAP repeat containing 2 ISO mRNA:decreased expression:uterine cervix RGD PMID:16504151 RGD:1643527 NCBI chrNW_004936551:5,515,904...5,535,864 JBrowse link
G Brca1 BRCA1 DNA repair associated disease_progression ISO DNA:hypermethylation:promoter RGD PMID:12773202 RGD:2298941 NCBI chrNW_004936490:17,735,444...17,801,456 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_004936490:3,001,445...3,139,538
Ensembl chrNW_004936490:3,003,484...3,137,479
JBrowse link
G Bsg basigin (Ok blood group) disease_progression ISO RGD PMID:18223224 RGD:2296028 NCBI chrNW_004936588:181,688...189,795
Ensembl chrNW_004936588:181,576...189,287
JBrowse link
G Casp3 caspase 3 ISO RGD PMID:18177927 RGD:2298948 NCBI chrNW_004936554:4,571,072...4,593,765 JBrowse link
G Ccnb1 cyclin B1 ISO mRNA, protein:increased expression:uterine cervix RGD PMID:16614707 RGD:2315938 NCBI chrNW_004936480:400,287...407,677
Ensembl chrNW_004936480:399,224...407,704
JBrowse link
G Cd55 CD55 molecule (Cromer blood group) ISO RGD PMID:9358772 RGD:2293549 NCBI chrNW_004936557:5,344,373...5,364,234 JBrowse link
G Cdc25a cell division cycle 25A ISO RGD PMID:18299147 RGD:2296067 NCBI chrNW_004936596:1,657,411...1,680,109
Ensembl chrNW_004936596:1,659,159...1,678,788
JBrowse link
G Cdc25c cell division cycle 25C ISO RGD PMID:15289842 RGD:4105450 NCBI chrNW_004936531:7,471,722...7,499,781
Ensembl chrNW_004936531:7,471,722...7,499,766
JBrowse link
G Cdh13 cadherin 13 ISO DNA:hypermethylation:promoter RGD PMID:17548682 RGD:2293543 NCBI chrNW_004936641:3,925,185...4,223,421
Ensembl chrNW_004936641:3,931,033...4,224,101
JBrowse link
G Cdk1 cyclin dependent kinase 1 ISO RGD PMID:18299147 RGD:2296067 NCBI chrNW_004936614:2,300,682...2,313,611
Ensembl chrNW_004936614:2,300,513...2,313,624
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_004936470:35,449,920...35,473,635
Ensembl chrNW_004936470:35,450,292...35,473,110
JBrowse link
G Erbb4 erb-b2 receptor tyrosine kinase 4 ISO protein:increased expression: uterine cervix, cytoplasm RGD PMID:28042953 RGD:126790468 NCBI chrNW_004936586:4,065,767...5,100,690
Ensembl chrNW_004936586:4,066,498...5,100,035
JBrowse link
G Fanca FA complementation group A no_association ISO DNA:SNP: :rs11649196 (human)
DNA:SNPs, haplotypes: :[rs2239359, rs7190823, rs7195066 (human)
RGD PMID:19012493 PMID:21543111 RGD:11344886 RGD:11344901 NCBI chrNW_004936641:281,119...319,796
Ensembl chrNW_004936641:281,073...324,053
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_004936477:21,591,772...21,606,289
Ensembl chrNW_004936477:21,591,792...21,606,296
JBrowse link
G Hnrnpc heterogeneous nuclear ribonucleoprotein C ISO protein:increased expression:cervical epithelium (human) RGD PMID:19319956 RGD:10054394 NCBI chrNW_004936880:368,041...425,967 JBrowse link
G Hoxb13 homeobox B13 ISO mRNA:increased expression:uterine cervix RGD PMID:16803519 RGD:2314728 NCBI chrNW_004936490:12,688,572...12,690,908
Ensembl chrNW_004936490:12,688,559...12,690,908
JBrowse link
G Hspa8 heat shock protein family A (Hsp70) member 8 ISO Protein: increased expression RGD PMID:21137014 RGD:6218976 NCBI chrNW_004936542:7,577,192...7,581,598
Ensembl chrNW_004936542:7,577,149...7,581,923
JBrowse link
G Il10 interleukin 10 disease_progression ISO protein:increased expression:serum RGD PMID:9541628 RGD:2317658 NCBI chrNW_004936557:5,834,874...5,838,502
Ensembl chrNW_004936557:5,834,874...5,838,502
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_004936783:1,251,678...1,256,807
Ensembl chrNW_004936783:1,252,158...1,257,165
JBrowse link
G Kdm3a lysine demethylase 3A severity ISO human gene in a mouse model RGD PMID:23492365 RGD:9590219 NCBI chrNW_004936712:1,053,210...1,097,845
Ensembl chrNW_004936712:1,053,210...1,096,961
JBrowse link
G Kmt2a lysine methyltransferase 2A ISO human gene in a mouse model RGD PMID:22926525 RGD:9588221 NCBI chrNW_004936542:3,480,071...3,566,823
Ensembl chrNW_004936542:3,391,774...3,562,147
JBrowse link
G Kmt2e lysine methyltransferase 2E (inactive) ISO human gene in a mouse model RGD PMID:25172963 RGD:9588553 NCBI chrNW_004936479:18,674,657...18,764,177
Ensembl chrNW_004936479:18,675,413...18,738,983
JBrowse link
G LOC101963197 HLA class II histocompatibility antigen, DP beta 1 chain susceptibility ISO DNA:polymorphism: :HLA-DPB1*1301 (human) RGD PMID:17349874 RGD:150429811 NCBI chrNW_004936476:25,730,800...25,741,089
Ensembl chrNW_004936476:25,730,596...25,741,145
JBrowse link
G Macc1 MET transcriptional regulator MACC1 ISO mRNA:increased expression:cervical region (human) RGD PMID:33603486 RGD:152999025 NCBI chrNW_004936546:6,169,789...6,188,403
Ensembl chrNW_004936546:6,167,616...6,232,771
JBrowse link
G Map2k3 mitogen-activated protein kinase kinase 3 treatment ISO RGD PMID:20980434 RGD:7495806 NCBI chrNW_004936741:362,682...386,633
Ensembl chrNW_004936741:362,387...386,678
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_004936837:363,870...379,406
Ensembl chrNW_004936837:362,928...378,759
JBrowse link
G Med4 mediator complex subunit 4 severity ISO mRNA:decreased expression:uterine cervix (human) RGD PMID:19911042 RGD:12880436 NCBI chrNW_004936565:1,397,434...1,414,674
Ensembl chrNW_004936565:1,396,088...1,415,248
JBrowse link
G Mmp1 matrix metallopeptidase 1 disease_progression ISO DNA:insertion:promoter:g.-1607insG (human) RGD PMID:14550952 RGD:7207024 NCBI chrNW_004936551:5,167,909...5,175,149
Ensembl chrNW_004936551:5,168,044...5,174,857
JBrowse link
G Mmp13 matrix metallopeptidase 13 ISO mRNA:increased expression:uterine cervix RGD PMID:17243165 RGD:2306082 NCBI chrNW_004936551:5,040,084...5,050,384
Ensembl chrNW_004936551:5,040,084...5,050,384
JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility ISO DNA:missense mutation:cds:g.1298A>C (human) RGD PMID:27771518 RGD:38501051 NCBI chrNW_004936474:623,438...637,849
Ensembl chrNW_004936474:623,291...638,193
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_004936815:144,994...157,788
Ensembl chrNW_004936815:144,994...158,144
JBrowse link
G Nras NRAS proto-oncogene, GTPase ISO mRNA:increased expression:uterine cervix RGD PMID:14984964 RGD:2314838 NCBI chrNW_004936627:73,413...82,590
Ensembl chrNW_004936627:73,413...82,590
JBrowse link
G Pgm3 phosphoglucomutase 3 ISO RGD PMID:508567 RGD:2299870 NCBI chrNW_004936510:7,586,817...7,622,586
Ensembl chrNW_004936510:7,586,837...7,609,267
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_004936489:12,118,538...12,913,664
Ensembl chrNW_004936489:12,120,678...13,327,872
JBrowse link
G Ptk2 protein tyrosine kinase 2 disease_progression ISO RGD PMID:16638855 RGD:2292556 NCBI chrNW_004936470:10,379,855...10,578,531
Ensembl chrNW_004936470:10,379,872...10,578,543
JBrowse link
G Ptpn11 protein tyrosine phosphatase non-receptor type 11 ISO protein:increased expression:foreskin RGD PMID:18543080 RGD:39128248 NCBI chrNW_004936668:2,602,261...2,687,903
Ensembl chrNW_004936668:2,628,706...2,682,448
JBrowse link
G Ptpn6 protein tyrosine phosphatase non-receptor type 6 ISO protein:increased expression:foreskin RGD PMID:18543080 RGD:39128248 NCBI chrNW_004936709:864,206...884,630
Ensembl chrNW_004936709:864,197...884,610
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_004936529:1,857,177...1,866,198
Ensembl chrNW_004936529:1,857,145...1,867,260
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_004936580:260,013...265,057 JBrowse link
G Smad2 SMAD family member 2 ISO DNA, mRNA:insertion, deletion, decreased expression:uterine cervix RGD PMID:12894231 RGD:2299968 NCBI chrNW_004936497:14,723,199...14,812,160
Ensembl chrNW_004936497:14,723,199...14,801,697
JBrowse link
G Smad4 SMAD family member 4 ISO mRNA:decreased expression:uterine cervix RGD PMID:12894231 RGD:2299968 NCBI chrNW_004936497:12,242,869...12,278,012
Ensembl chrNW_004936497:12,249,140...12,278,123
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_004936508:12,162,553...12,281,812
Ensembl chrNW_004936508:12,162,547...12,281,820
JBrowse link
G Spag5 sperm associated antigen 5 severity ISO mRNA, protein:increased expression:cervix (human) RGD PMID:35853859 RGD:155882439 NCBI chrNW_004936538:4,803,536...4,821,034
Ensembl chrNW_004936538:4,803,585...4,820,885
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_004936476:25,899,514...25,907,690
Ensembl chrNW_004936476:25,899,339...25,907,695
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_004936476:25,913,699...25,923,419
Ensembl chrNW_004936476:25,913,663...25,923,427
JBrowse link
G Timp4 TIMP metallopeptidase inhibitor 4 disease_progression ISO mRNA:increased expression:uterine cervix RGD PMID:15816637 RGD:2290434 NCBI chrNW_004936602:1,488,993...1,496,108
Ensembl chrNW_004936602:1,489,545...1,495,478
JBrowse link
G Tnf tumor necrosis factor susceptibility ISO DNA:polymorphism:promoter:-308G>A (human) RGD PMID:19823053 RGD:2315116 NCBI chrNW_004936727:1,936,066...1,937,766
Ensembl chrNW_004936727:1,936,066...1,937,766
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_004936595:919,807...935,367
Ensembl chrNW_004936595:919,428...925,425
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_004936737:171,894...211,464
Ensembl chrNW_004936737:172,467...211,464
JBrowse link
G Xrcc1 X-ray repair cross complementing 1 ISO DNA:polymorphism: :p.R194W RGD PMID:18851872 RGD:2302567 NCBI chrNW_004936706:752,571...783,746
Ensembl chrNW_004936706:751,108...783,777
JBrowse link
G Zfhx3 zinc finger homeobox 3 ISO mRNA:increased expression:uterine cervix RGD PMID:11812077 RGD:2315697 NCBI chrNW_004936475:21,005,242...21,235,992
Ensembl chrNW_004936475:21,080,302...21,231,544
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_004936588:579,816...601,033
Ensembl chrNW_004936588:579,816...603,654
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_004936580:4,183,016...4,208,341
Ensembl chrNW_004936580:4,183,079...4,203,435
JBrowse link
G Bax BCL2 associated X, apoptosis regulator ISO protein:increased expression:uterine cervix RGD PMID:17694953 RGD:1643352 NCBI chrNW_004936664:2,968,103...2,973,652
Ensembl chrNW_004936664:2,967,865...2,973,820
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_004936551:5,515,904...5,535,864 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_004936490:3,001,445...3,139,538
Ensembl chrNW_004936490:3,003,484...3,137,479
JBrowse link
G Ccl22 C-C motif chemokine ligand 22 severity ISO RGD PMID:28086903 RGD:38455996 NCBI chrNW_004936475:9,432,505...9,436,240
Ensembl chrNW_004936475:9,432,505...9,436,240
JBrowse link
G Ccr4 C-C motif chemokine receptor 4 severity ISO RGD PMID:28086903 RGD:38455996 NCBI chrNW_004936473:23,321,167...23,323,075 JBrowse link
G Cd82 CD82 molecule ISO protein:decreased expression:uterine cervix RGD PMID:15642213 RGD:2289399
G Csf1r colony stimulating factor 1 receptor ISO protein:increased expression:uterine cervix RGD PMID:18565574 RGD:2299119 NCBI chrNW_004936504:4,898,947...4,927,195
Ensembl chrNW_004936504:4,898,945...4,928,923
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_004936471:11,636,733...11,692,782
Ensembl chrNW_004936471:11,635,876...11,693,821
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_004936477:21,591,772...21,606,289
Ensembl chrNW_004936477:21,591,792...21,606,296
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_004936488:4,384,710...4,388,118
Ensembl chrNW_004936488:4,384,705...4,388,122
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_004936599:3,642,504...3,649,294
Ensembl chrNW_004936599:3,642,504...3,648,417
JBrowse link
G Foxp3 forkhead box P3 severity ISO RGD PMID:28086903 RGD:38455996 NCBI chrNW_004936721:1,118,376...1,125,282
Ensembl chrNW_004936721:1,118,782...1,132,308
JBrowse link
G Pdpn podoplanin disease_progression ISO RGD PMID:16528371 RGD:2292237 NCBI chrNW_004936474:1,751,159...1,779,011
Ensembl chrNW_004936474:1,750,944...1,781,156
JBrowse link
G Smad3 SMAD family member 3 severity ISO RGD PMID:28086903 RGD:38455996 NCBI chrNW_004936471:27,080,662...27,185,861
Ensembl chrNW_004936471:27,080,575...27,189,793
JBrowse link
G Timp2 TIMP metallopeptidase inhibitor 2 ISO protein:decreased expression:uterine cervix RGD PMID:16619570 RGD:2290402 NCBI chrNW_004936594:3,232,433...3,244,241
Ensembl chrNW_004936594:3,232,355...3,244,241
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_004936512:7,427,926...7,448,700
Ensembl chrNW_004936512:7,427,729...7,449,078
JBrowse link
G Tnfrsf4 TNF receptor superfamily member 4 severity ISO RGD PMID:28086903 RGD:38455996 NCBI chrNW_004936737:1,901,749...1,904,382 JBrowse link
G Tnfsf4 TNF superfamily member 4 severity ISO RGD PMID:28086903 RGD:38455996 NCBI chrNW_004936481:14,391,359...14,409,514 JBrowse link
G Tp53 tumor protein p53 disease_progression ISO RGD PMID:17969407 RGD:2298526 NCBI chrNW_004936595:919,807...935,367
Ensembl chrNW_004936595:919,428...925,425
JBrowse link
G Tymp thymidine phosphorylase disease_progression ISO RGD PMID:16803522 RGD:2293719 NCBI chrNW_004936629:315,609...320,356
Ensembl chrNW_004936629:315,610...319,076
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_004936877:666,545...669,351
Ensembl chrNW_004936877:666,523...669,338
JBrowse link
G Bag1 BAG cochaperone 1 ISO protein:increased expression:uterine cervix RGD PMID:10047462 RGD:2293889 NCBI chrNW_004936524:1,793,001...1,804,145
Ensembl chrNW_004936524:1,791,119...1,804,151
JBrowse link
G Bak1 BCL2 antagonist/killer 1 ISO DNA:missense mutations:exon:multiple (human) RGD PMID:12771926 RGD:2315701 NCBI chrNW_004936476:25,347,608...25,354,772
Ensembl chrNW_004936476:25,347,545...25,355,789
JBrowse link
G Ccnd3 cyclin D3 ISO RGD PMID:14751136 RGD:2316013 NCBI chrNW_004936476:17,799,754...17,886,835
Ensembl chrNW_004936476:17,879,869...17,886,827
JBrowse link
G Cd9 CD9 molecule disease_progression ISO RGD PMID:14695144 RGD:2326206 NCBI chrNW_004936709:1,497,504...1,530,114 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_004936599:3,663,288...3,670,048
Ensembl chrNW_004936599:3,663,326...3,670,047
JBrowse link
G Erap1 endoplasmic reticulum aminopeptidase 1 ISO DNA:SNPs (human) RGD PMID:19202550 RGD:2315691 NCBI chrNW_004936523:6,661,119...6,686,988
Ensembl chrNW_004936523:6,661,315...6,690,425
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_004936477:21,591,772...21,606,289
Ensembl chrNW_004936477:21,591,792...21,606,296
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_004936486:16,744,607...16,923,209
Ensembl chrNW_004936486:16,744,570...16,923,543
JBrowse link
G Ptgs1 prostaglandin-endoperoxide synthase 1 disease_progression ISO RGD PMID:16803521 RGD:2300207 NCBI chrNW_004936487:10,745,465...10,758,812
Ensembl chrNW_004936487:10,745,327...10,758,823
JBrowse link
G Ptk2 protein tyrosine kinase 2 ISO protein:increased tyrosine phosphorylation:cervix RGD PMID:14675348 RGD:2292568 NCBI chrNW_004936470:10,379,855...10,578,531
Ensembl chrNW_004936470:10,379,872...10,578,543
JBrowse link
G Sparc secreted protein acidic and cysteine rich ISO DNA:hypermethylation RGD PMID:16434596 RGD:2300022 NCBI chrNW_004936515:11,026,156...11,046,812
Ensembl chrNW_004936515:11,025,724...11,046,849
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_004936476:25,913,699...25,923,419
Ensembl chrNW_004936476:25,913,663...25,923,427
JBrowse link
G Tk1 thymidine kinase 1 ISO protein:increased expression:serum (human) RGD PMID:11474248 RGD:2317243 NCBI chrNW_004936594:2,784,891...2,794,693
Ensembl chrNW_004936594:2,784,226...2,794,830
JBrowse link
G Tsg101 tumor susceptibility 101 ISO mRNA:alternative form:uterine cervix
mRNA:alternative forms:uterine cervix:multiple
RGD PMID:10505033 PMID:10600297 RGD:2291851 RGD:2291852 NCBI chrNW_004936590:61,352...62,037 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_004936710:2,301,470...2,388,533
Ensembl chrNW_004936710:2,301,730...2,387,695
JBrowse link
G Bcl2 BCL2 apoptosis regulator disease_progression ISO protein:increased expression:uterine cervix RGD PMID:18561741 RGD:2298889 NCBI chrNW_004936497:2,209,136...2,373,580
Ensembl chrNW_004936497:2,210,334...2,210,921
JBrowse link
G Brca1 BRCA1 DNA repair associated ISO DNA:deletions:exon RGD PMID:10442317 RGD:2298942 NCBI chrNW_004936490:17,735,444...17,801,456 JBrowse link
G Cadm1 cell adhesion molecule 1 severity ISO RGD PMID:17009984 RGD:2289089 NCBI chrNW_004936542:569,739...883,738
Ensembl chrNW_004936542:565,843...883,609
JBrowse link
G Ccnd1 cyclin D1 ISO protein:increased expression:uterine cervix RGD PMID:18301453 RGD:2293574 Ensembl chrNW_004936599:973,838...983,316 JBrowse link
G Ccne1 cyclin E1 ISO protein:increased expression:uterine cervix RGD PMID:18301453 RGD:2293574 NCBI chrNW_004936570:5,536,817...5,547,880
Ensembl chrNW_004936570:5,536,672...5,548,008
JBrowse link
G Ccng1 cyclin G1 ISO protein:increased expression:uterine cervix RGD PMID:16845792 RGD:2316022 NCBI chrNW_004936515:614,287...621,213
Ensembl chrNW_004936515:614,290...619,963
JBrowse link
G Cd274 CD274 molecule severity ISO associated with Papillomavirus Infections; protein:increased expression:dendritic cell RGD PMID:23521696 RGD:40822817 NCBI chrNW_004936539:132,870...145,288
Ensembl chrNW_004936539:132,868...143,602
JBrowse link
G Cd46 CD46 molecule ISO protein:increased expression:uterine cervix RGD PMID:9358772 RGD:2293549 NCBI chrNW_004936557:5,136,784...5,175,543 JBrowse link
G Cdh1 cadherin 1 ISO DNA:hypermethylation:uterine cervix RGD PMID:17894941 RGD:2289490 NCBI chrNW_004936475:18,990,529...19,065,954
Ensembl chrNW_004936475:18,990,474...19,067,203
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_004936646:1,886,262...1,889,260 JBrowse link
G Cdkn1a cyclin dependent kinase inhibitor 1A ISO protein:increased expression:epithelial cell: RGD PMID:9546362 RGD:8662446 NCBI chrNW_004936476:22,717,308...22,725,127
Ensembl chrNW_004936476:22,717,260...22,725,182
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_004936587:4,573,166...4,578,480
Ensembl chrNW_004936587:4,572,728...4,578,461
JBrowse link
G Cdkn2b cyclin dependent kinase inhibitor 2B ISO protein:increased expression:uterine cervix RGD PMID:17632454 RGD:2289695 NCBI chrNW_004936652:3,576,975...3,582,790
Ensembl chrNW_004936652:3,538,986...3,581,159
JBrowse link
G Csf1r colony stimulating factor 1 receptor disease_progression ISO protein:increased expression:uterine cervix RGD PMID:18565574 RGD:2299119 NCBI chrNW_004936504:4,898,947...4,927,195
Ensembl chrNW_004936504:4,898,945...4,928,923
JBrowse link
G Ctnna1 catenin alpha 1 disease_progression ISO protein:decreased expression:uterine cervix RGD PMID:11161853 RGD:2289797 NCBI chrNW_004936531:7,865,907...8,036,020
Ensembl chrNW_004936531:7,865,820...8,037,935
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_004936833:551,989...843,064
Ensembl chrNW_004936833:551,799...844,121
JBrowse link
G Faslg Fas ligand ISO associated with Papillomavirus Infections RGD PMID:17433060 RGD:2290052 NCBI chrNW_004936481:14,789,547...14,795,780 JBrowse link
G Hdac1 histone deacetylase 1 ISO protein:increased expression:uterine cervix RGD PMID:19147762 RGD:2306200 NCBI chrNW_004936474:15,320,635...15,351,418
Ensembl chrNW_004936474:15,320,729...15,350,860
JBrowse link
G Hdac2 histone deacetylase 2 ISO protein:increased expression:uterine cervix RGD PMID:19147762 RGD:2306200 NCBI chrNW_004936679:2,448,676...2,474,641
Ensembl chrNW_004936679:2,448,390...2,474,641
JBrowse link
G Hdac6 histone deacetylase 6 ISO protein:increased expression:uterine cervix RGD PMID:19147762 RGD:2306200 NCBI chrNW_004936721:757,500...778,416
Ensembl chrNW_004936721:758,181...778,053
JBrowse link
G Igfbp3 insulin like growth factor binding protein 3 ISO protein:decreased expression:serum:significantly decreased (p<0.0001), levels inversely associated with serum IGF-II levels (p<0.01)
mRNA:decreased expression:tumor:significant decrease in cancer relative to controls (P=0.03)
RGD PMID:14675666 PMID:17709267 RGD:2290004 RGD:2290021 NCBI chrNW_004936478:20,511,490...20,518,251
Ensembl chrNW_004936478:20,510,137...20,518,306
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_004936783:1,251,678...1,256,807
Ensembl chrNW_004936783:1,252,158...1,257,165
JBrowse link
G Mgp matrix Gla protein ISO RGD PMID:17960611 RGD:2293584 NCBI chrNW_004936587:2,601,419...2,605,848
Ensembl chrNW_004936587:2,601,312...2,605,870
JBrowse link
G Mlh1 mutL homolog 1 ISO protein:increased expression:uterine cervix RGD PMID:15807307 RGD:2293515 NCBI chrNW_004936473:26,556,636...26,600,830
Ensembl chrNW_004936473:26,556,611...26,603,736
JBrowse link
G Mmp2 matrix metallopeptidase 2 disease_progression ISO protein:increased expression:uterine cervix RGD PMID:16619570 RGD:2290402 NCBI chrNW_004936475:7,801,356...7,825,831
Ensembl chrNW_004936475:7,801,277...7,825,851
JBrowse link
G Msh2 mutS homolog 2 ISO protein:increased expression:uterine cervix RGD PMID:15807307 RGD:2293515 NCBI chrNW_004936508:4,943,987...5,013,356
Ensembl chrNW_004936508:4,944,007...5,013,356
JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17303386 NCBI chrNW_004936474:623,438...637,849
Ensembl chrNW_004936474:623,291...638,193
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_004936745:152,571...163,712
Ensembl chrNW_004936745:152,612...161,587
JBrowse link
G Phb1 prohibitin 1 ISO protein:increased expression:uterine cervix RGD PMID:16426920 RGD:2292398 NCBI chrNW_004936490:12,127,065...12,138,870
Ensembl chrNW_004936490:12,127,065...12,138,870
JBrowse link
G Pou4f1 POU class 4 homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20190800 NCBI chrNW_004936511:2,857,017...2,859,705
Ensembl chrNW_004936511:2,857,331...2,859,277
JBrowse link
G Pten phosphatase and tensin homolog ISO protein:decreased expression:uterine cervix RGD PMID:17672936 RGD:2298701 NCBI chrNW_004936735:1,252,414...1,338,318
Ensembl chrNW_004936735:1,252,414...1,338,323
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_004936481:3,821,564...3,828,086 JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO associated with Adenocarcinoma RGD PMID:18234283 RGD:2299896 NCBI chrNW_004936565:1,596,227...1,746,706
Ensembl chrNW_004936565:1,597,593...1,746,846
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_004936599:3,800,142...3,810,583
Ensembl chrNW_004936599:3,801,636...3,809,813
JBrowse link
G Skp2 S-phase kinase associated protein 2 severity ISO associated with Papillomavirus Infections RGD PMID:19094580 RGD:2315036 NCBI chrNW_004936518:5,635,856...5,664,057
Ensembl chrNW_004936518:5,637,331...5,664,778
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_004936490:5,055,258...5,059,118
Ensembl chrNW_004936490:5,055,253...5,059,116
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_004936490:17,119,189...17,178,402
Ensembl chrNW_004936490:17,117,290...17,178,402
JBrowse link
G Tert telomerase reverse transcriptase disease_progression ISO protein:increased expression:uterine cervix RGD PMID:17644806 RGD:2291985 NCBI chrNW_004936815:468,987...492,666
Ensembl chrNW_004936815:469,020...491,697
JBrowse link
G Thrb thyroid hormone receptor beta ISO DNA:loss of heterozygosity (human) RGD PMID:11483913 RGD:2315099 NCBI chrNW_004936473:15,766,214...15,986,389
Ensembl chrNW_004936473:15,770,146...15,986,561
JBrowse link
G Top2a DNA topoisomerase II alpha ISO RGD PMID:19051821 RGD:2315126 NCBI chrNW_004936490:15,441,463...15,465,692
Ensembl chrNW_004936490:15,441,575...15,466,978
JBrowse link
G Tp63 tumor protein p63 disease_progression ISO RGD PMID:16804722 RGD:2315435 NCBI chrNW_004936578:492,267...705,282
Ensembl chrNW_004936578:491,507...705,729
JBrowse link
G Tp73 tumor protein p73 disease_progression ISO mRNA:increased expression:uterine cervix RGD PMID:11870517 RGD:2290589 NCBI chrNW_004936737:171,894...211,464
Ensembl chrNW_004936737:172,467...211,464
JBrowse link
G Vegfa vascular endothelial growth factor A ISO protein:increased expression:uterine cervix RGD PMID:19723043 RGD:2315456 NCBI chrNW_004936476:16,245,134...16,261,180
Ensembl chrNW_004936476:16,247,100...16,260,673
JBrowse link
G Xiap X-linked inhibitor of apoptosis ISO protein:increased expression:uterine cervix RGD PMID:18325467 RGD:2315850 NCBI chrNW_004936479:6,677,533...6,724,800
Ensembl chrNW_004936479:6,677,526...6,722,116
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_004936514:6,936,915...6,947,246
Ensembl chrNW_004936514:6,936,572...6,947,280
JBrowse link
G Foxp3 forkhead box P3 treatment ISO RGD PMID:30832593 RGD:38455984 NCBI chrNW_004936721:1,118,376...1,125,282
Ensembl chrNW_004936721:1,118,782...1,132,308
JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO mRNA:increased expression:lung (mouse) RGD PMID:19728926 RGD:4145507 NCBI chrNW_004936659:616,570...627,172
Ensembl chrNW_004936659:616,752...627,174
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_004936843:658,058...672,662
Ensembl chrNW_004936843:657,979...672,700
JBrowse link
G Ifng interferon gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:19203382 NCBI chrNW_004936545:6,139,130...6,144,543
Ensembl chrNW_004936545:6,139,116...6,148,452
JBrowse link
G Il13 interleukin 13 ISO RGD PMID:21573182 RGD:5684365 NCBI chrNW_004936647:2,529,933...2,532,503
Ensembl chrNW_004936647:2,530,491...2,532,373
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_004936476:8,621,860...8,625,008
Ensembl chrNW_004936476:8,621,860...8,625,008
JBrowse link
G Tgfb1 transforming growth factor beta 1 treatment ISO RGD PMID:30832593 RGD:38455984 NCBI chrNW_004936661:3,742,080...3,758,266
Ensembl chrNW_004936661:3,742,066...3,758,272
JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19203382 NCBI chrNW_004936727:1,936,066...1,937,766
Ensembl chrNW_004936727:1,936,066...1,937,766
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_004936539:132,870...145,288
Ensembl chrNW_004936539:132,868...143,602
JBrowse link
G Pdcd1 programmed cell death 1 ISO mRNA:increased expression:lung RGD PMID:26378990 RGD:41412180 NCBI chrNW_004936745:152,571...163,712
Ensembl chrNW_004936745:152,612...161,587
JBrowse link
G Pik3cd phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta severity ISO RGD PMID:29893841 RGD:40890270 NCBI chrNW_004936623:3,672,201...3,696,959 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_004936727:1,418,342...1,422,005
Ensembl chrNW_004936727:1,418,799...1,422,147
JBrowse link
G Fas Fas cell surface death receptor ISO protein:increased expression:villous trophoblast RGD PMID:12700199 RGD:12904022 NCBI chrNW_004936735:209,369...234,582 JBrowse link
G Il1a interleukin 1 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:21493953 NCBI chrNW_004936783:1,210,715...1,218,315
Ensembl chrNW_004936783:1,210,809...1,218,315
JBrowse link
G Il6 interleukin 6 ISO associated with Premature Birth;protein:increased expression:tracheal aspirate fluid:
protein:increased expression: cervicovaginal fluid :
protein:increased expression:plasma
RGD PMID:15547537 PMID:25011638 PMID:25687566 RGD:12791291 RGD:12792243 RGD:5128667 NCBI chrNW_004936549:7,015,595...7,016,246 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_004936727:1,940,081...1,941,022
Ensembl chrNW_004936727:1,940,081...1,941,022
JBrowse link
G Mmp9 matrix metallopeptidase 9 severity ISO protein:increased expression:respiratory system fluid/secretion RGD PMID:12712078 RGD:13204828 NCBI chrNW_004936514:7,038,240...7,045,873
Ensembl chrNW_004936514:7,037,639...7,045,793
JBrowse link
G Tgfb1 transforming growth factor beta 1 severity ISO protein:increased expression:amniotic fluid RGD PMID:19332995 RGD:4145137 NCBI chrNW_004936661:3,742,080...3,758,266
Ensembl chrNW_004936661:3,742,066...3,758,272
JBrowse link
G Tnf tumor necrosis factor no_association
severity
ISO associated with Premature Birth;DNA:SNP:promoter:c.-308 G>A (human)
associated with Premature Birth;DNA:SNP:promoter:c.-238G>A (human)
RGD PMID:15128916 RGD:12904055 NCBI chrNW_004936727:1,936,066...1,937,766
Ensembl chrNW_004936727:1,936,066...1,937,766
JBrowse link
G Trem1 triggering receptor expressed on myeloid cells 1 ISO associated with Premature Obstetric Labor;protein:increased expression:amniotic fluid: RGD PMID:19591072 RGD:127229904 NCBI chrNW_004936476:18,577,825...18,583,675
Ensembl chrNW_004936476:18,574,381...18,583,647
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_004936600:4,004,847...4,010,626
Ensembl chrNW_004936600:4,004,824...4,010,689
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_004936816:972,902...981,232
Ensembl chrNW_004936816:972,282...979,167
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_004936588:4,345,306...4,453,380
Ensembl chrNW_004936588:4,345,306...4,453,668
JBrowse link
G Pdgfb platelet derived growth factor subunit B ISO mRNA:increased expression:mononuclear cytotrophoblast cell RGD PMID:8504434 RGD:2292200 NCBI chrNW_004936492:2,353,840...2,368,573
Ensembl chrNW_004936492:2,353,841...2,368,573
JBrowse link
G Pdgfrb platelet derived growth factor receptor beta ISO mRNA:increased expression:mononuclear cytotrophoblast cell RGD PMID:8504434 RGD:2292200 NCBI chrNW_004936504:4,762,251...4,799,789
Ensembl chrNW_004936504:4,762,184...4,799,829
JBrowse link
G Timp3 TIMP metallopeptidase inhibitor 3 ISO DNA, protein:hypermethylation, decreased expression:promoter, placenta RGD PMID:15507671 RGD:2290418 NCBI chrNW_004936492:6,996,627...7,046,137
Ensembl chrNW_004936492:6,996,613...7,046,190
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_004936844:552,729...619,429
Ensembl chrNW_004936844:554,171...619,429
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_004936589:1,565,933...1,719,208 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_004936479:13,252,678...13,255,570
Ensembl chrNW_004936479:13,252,678...13,255,570
JBrowse link
G Atp7a ATPase copper transporting alpha ISO mRNA, protein:decreased expression:diaphragm (rat) RGD PMID:25319798 RGD:11341670 NCBI chrNW_004936683:2,874,022...2,936,214
Ensembl chrNW_004936683:2,874,042...2,935,040
JBrowse link
G Bmp4 bone morphogenetic protein 4 ISO mRNA:decreased expression:heart: RGD PMID:18280291 RGD:9068407 NCBI chrNW_004936697:1,054,237...1,061,468
Ensembl chrNW_004936697:1,056,636...1,061,468
JBrowse link
G Cbl Cbl proto-oncogene ISO mRNA,protein:decreased expression, hypophosphorylation:lung, alveolar epithelium: RGD PMID:23143077 RGD:11038813 NCBI chrNW_004936542:4,136,389...4,235,746
Ensembl chrNW_004936542:4,136,511...4,228,288
JBrowse link
G Ccn2 cellular communication network factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20939759 PMID:21258935 NCBI chrNW_004936560:42,561...45,748
Ensembl chrNW_004936560:42,537...45,807
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_004936569:1,807,902...1,814,936
Ensembl chrNW_004936569:1,807,805...1,815,562
JBrowse link
G Eln elastin ISO mRNA,protein:increased expression:lung: RGD PMID:12194112 RGD:9585688 NCBI chrNW_004936543:3,135,169...3,165,023 JBrowse link
G Ep300 E1A binding protein p300 ISO mRNA:decreased expression:lung RGD PMID:24488106 RGD:9588310 NCBI chrNW_004936492:696,982...778,132
Ensembl chrNW_004936492:696,960...778,138
JBrowse link
G Epo erythropoietin ISO CTD Direct Evidence: marker/mechanism CTD PMID:27880037 NCBI chrNW_004936543:742,722...745,332
Ensembl chrNW_004936543:743,537...745,343
JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Congenital diaphragmatic hernia ClinVar PMID:23806086 PMID:24088041 PMID:25736269 NCBI chrNW_004936471:10,747,030...10,969,223
Ensembl chrNW_004936471:10,746,996...10,969,231
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_004936477:22,177,473...22,189,554
Ensembl chrNW_004936477:22,177,457...22,189,655
JBrowse link
G Foxc2 forkhead box C2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27663689 NCBI chrNW_004936641:2,236,224...2,238,501
Ensembl chrNW_004936641:2,236,873...2,238,375
JBrowse link
G Foxf1 forkhead box F1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27663689 NCBI chrNW_004943883:4...1,756 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_004936676:1,870,856...2,138,832
Ensembl chrNW_004936676:1,870,814...2,135,823
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_004936539:8,338,624...8,508,031
Ensembl chrNW_004936539:8,351,159...8,508,069
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_004936565:6,671,578...6,837,514
Ensembl chrNW_004936565:6,671,737...6,837,514
JBrowse link
G Gata4 GATA binding protein 4 ISO CTD Direct Evidence: marker/mechanism
OMIM:142340 | OMIM:222400 | OMIM:610187
CTD
MouseDO
PMID:23426975 NCBI chrNW_004936675:3,408,549...3,420,828 JBrowse link
G Gata6 GATA binding protein 6 ISO ClinVar Annotator: match by term: Agenesis of hemidiaphragm | ClinVar Annotator: match by term: DIH ClinVar PMID:22158542 PMID:24385578 PMID:25741868 NCBI chrNW_004936550:1,814,336...1,844,399
Ensembl chrNW_004936550:1,814,336...1,844,399
JBrowse link
G Gli3 GLI family zinc finger 3 ISO ClinVar Annotator: match by term: Congenital diaphragmatic hernia ClinVar NCBI chrNW_004936478:17,129,922...17,403,630
Ensembl chrNW_004936478:17,126,911...17,403,011
JBrowse link
G Htr2a 5-hydroxytryptamine receptor 2A ISO mRNA, protein:increased expression:lung RGD PMID:24888825 RGD:401901089 NCBI chrNW_004936565:335,238...394,683
Ensembl chrNW_004936565:334,393...394,715
JBrowse link
G Igf1 insulin like growth factor 1 ISO mRNA:decreased expression:heart (rat) RGD PMID:11409163 RGD:12904929 NCBI chrNW_004936492:11,709,623...11,784,028
Ensembl chrNW_004936492:11,709,222...11,778,351
JBrowse link
G Igf1r insulin like growth factor 1 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20620343 PMID:21433279 NCBI chrNW_004936483:4,563,995...4,860,231
Ensembl chrNW_004936483:4,564,512...4,852,925
JBrowse link
G Igf2 insulin like growth factor 2 treatment ISO RGD PMID:24352370 RGD:10402563 NCBI chrNW_004936816:972,902...981,232
Ensembl chrNW_004936816:972,282...979,167
JBrowse link
G Igf2r insulin like growth factor 2 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20620343 PMID:21433279 NCBI chrNW_004936489:11,447,043...11,523,695
Ensembl chrNW_004936489:11,447,038...11,524,174
JBrowse link
G Igfbp3 insulin like growth factor binding protein 3 ISO RGD PMID:19844724 RGD:10402761 NCBI chrNW_004936478:20,511,490...20,518,251
Ensembl chrNW_004936478:20,510,137...20,518,306
JBrowse link
G Igfbp5 insulin like growth factor binding protein 5 ISO RGD PMID:19844724 RGD:10402761 NCBI chrNW_004936586:647,553...666,595
Ensembl chrNW_004936586:647,493...666,621
JBrowse link
G Insr insulin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21433279 NCBI chrNW_004936588:4,345,306...4,453,380
Ensembl chrNW_004936588:4,345,306...4,453,668
JBrowse link
G Kcnq5 potassium voltage-gated channel subfamily Q member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28189443 NCBI chrNW_004936618:4,283,240...4,815,571
Ensembl chrNW_004936618:4,283,349...4,812,036
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_004936483:15,430,735...15,450,872
Ensembl chrNW_004936483:15,431,470...15,449,067
JBrowse link
G Lcn2 lipocalin 2 ISO protein:decreased expression:amniotic fluid
mRNA:decreased expression:lung
RGD PMID:27592368 RGD:126790533 NCBI chrNW_004936487:15,721,752...15,725,396
Ensembl chrNW_004936487:15,721,684...15,728,221
JBrowse link
G LOC101968921 angiotensin-converting enzyme ISO protein:increased activity:lung (rat) RGD PMID:9498404 RGD:12859277 NCBI chrNW_004936541:4,157,847...4,178,156
Ensembl chrNW_004936541:4,157,393...4,178,177
JBrowse link
G LOC101972165 myosin-7 ISO ClinVar Annotator: match by term: Agenesis of hemidiaphragm ClinVar PMID:12707239 PMID:17125710 PMID:18076673 PMID:20394946 PMID:20800588 More... NCBI chrNW_004936722:967,443...991,530
Ensembl chrNW_004936722:969,384...991,129
JBrowse link
G Lrp1 LDL receptor related protein 1 ISO OMIM:142340 | OMIM:222400 | OMIM:610187 MouseDO NCBI chrNW_004936646:1,326,900...1,407,236
Ensembl chrNW_004936646:1,327,374...1,406,456
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_004936619:2,505,300...2,523,500
Ensembl chrNW_004936619:2,505,542...2,523,500
JBrowse link
G Met MET proto-oncogene, receptor tyrosine kinase ISO ClinVar Annotator: match by term: Agenesis of hemidiaphragm ClinVar PMID:1104268 PMID:14559814 PMID:17483355 PMID:21970370 PMID:22703879 More... NCBI chrNW_004936589:2,280,803...2,390,179
Ensembl chrNW_004936589:2,280,799...2,390,179
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_004936657:2,024,302...2,066,196
Ensembl chrNW_004936657:2,024,350...2,065,263
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_004936741:1,669,680...1,724,929
Ensembl chrNW_004936741:1,669,680...1,723,891
JBrowse link
G Myod1 myogenic differentiation 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21258934 NCBI chrNW_004936528:1,407,187...1,409,683
Ensembl chrNW_004936528:1,407,661...1,409,573
JBrowse link
G Myrf myelin regulatory factor ISO ClinVar Annotator: match by term: Agenesis of hemidiaphragm ClinVar PMID:25741868 PMID:30532227 NCBI chrNW_004936581:1,335,969...1,367,104
Ensembl chrNW_004936581:1,338,762...1,367,104
JBrowse link
G Ndst1 N-deacetylase and N-sulfotransferase 1 ISO OMIM:142340 | OMIM:222400 | OMIM:610187 MouseDO NCBI chrNW_004936504:4,413,549...4,495,933
Ensembl chrNW_004936504:4,413,549...4,454,109
JBrowse link
G Nos3 nitric oxide synthase 3 ISO protein:decreased expression:pulmonary artery (rat) RGD PMID:29216632 RGD:13504720 NCBI chrNW_004936527:6,427,147...6,445,770
Ensembl chrNW_004936527:6,427,093...6,446,534
JBrowse link
G Nr2f2 nuclear receptor subfamily 2 group F member 2 ISO OMIM:142340 | OMIM:222400 | OMIM:610187 MouseDO NCBI chrNW_004936483:6,886,447...6,900,986
Ensembl chrNW_004936483:6,886,153...6,900,997
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_004936569:4,215,513...4,307,815
Ensembl chrNW_004936569:4,216,900...4,307,815
JBrowse link
G Pdgfra platelet derived growth factor receptor alpha ISO OMIM:142340 | OMIM:222400 | OMIM:610187 MouseDO NCBI chrNW_004936482:16,804,129...16,853,539
Ensembl chrNW_004936482:16,807,569...16,853,587
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_004936490:14,862,204...14,877,217
Ensembl chrNW_004936490:14,859,538...14,877,269
JBrowse link
G Pim1 Pim-1 proto-oncogene, serine/threonine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:25812446 NCBI chrNW_004936476:22,295,023...22,300,155
Ensembl chrNW_004936476:22,295,021...22,300,161
JBrowse link
G Pls3 plastin 3 ISO ClinVar Annotator: match by term: Congenital diaphragmatic hernia ClinVar PMID:25741868 PMID:37751738 NCBI chrNW_004936499:246,042...335,440
Ensembl chrNW_004936499:246,042...335,440
JBrowse link
G Rhoa ras homolog family member A ISO CTD Direct Evidence: marker/mechanism CTD PMID:25783350 NCBI chrNW_004936529:1,000,050...1,045,655
Ensembl chrNW_004936529:999,935...1,045,681
JBrowse link
G Robo4 roundabout guidance receptor 4 ISO ClinVar Annotator: match by term: Congenital diaphragmatic hernia ClinVar NCBI chrNW_004936743:1,321,816...1,336,682
Ensembl chrNW_004936743:1,318,718...1,336,689
JBrowse link
G Sftpb surfactant protein B treatment ISO RGD PMID:11051153 RGD:151667435 NCBI chrNW_004936712:1,614,979...1,621,207
Ensembl chrNW_004936712:1,614,979...1,622,466
JBrowse link
G Slc6a4 solute carrier family 6 member 4 ISO protein:increased expression:lung RGD PMID:24888825 RGD:401901089 NCBI chrNW_004936538:6,205,268...6,239,062
Ensembl chrNW_004936538:6,205,251...6,239,083
JBrowse link
G Slit2 slit guidance ligand 2 ISO mRNA:increased expression:lung RGD PMID:19944214 RGD:243048459 NCBI chrNW_004936477:8,111,212...8,448,567
Ensembl chrNW_004936477:8,109,228...8,446,653
JBrowse link
G Slit3 slit guidance ligand 3 ISO OMIM:142340 | OMIM:222400 | OMIM:610187
mRNA:increased expression:lung
MouseDO
RGD
PMID:19944214 RGD:243048459 NCBI chrNW_004936622:191,165...756,552
Ensembl chrNW_004936622:565,346...752,299
JBrowse link
G Sod1 superoxide dismutase 1 ISO mRNA:decreased expression:lung RGD PMID:26534761 RGD:11035301 NCBI chrNW_004936500:10,345,154...10,352,873
Ensembl chrNW_004936500:10,345,154...10,352,867
JBrowse link
G Sod2 superoxide dismutase 2 ISO mRNA:decreased expression:lung RGD PMID:26534761 RGD:11035301 NCBI chrNW_004936489:11,178,338...11,191,601
Ensembl chrNW_004936489:11,178,015...11,191,781
JBrowse link
G Sox7 SRY-box transcription factor 7 ISO OMIM:142340 | OMIM:222400 | OMIM:610187 MouseDO NCBI chrNW_004936675:2,616,086...2,622,436
Ensembl chrNW_004936675:2,616,077...2,622,436
JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25812446 NCBI chrNW_004936490:17,119,189...17,178,402
Ensembl chrNW_004936490:17,117,290...17,178,402
JBrowse link
G Tnf tumor necrosis factor ISO RGD PMID:10541330 RGD:12904053 NCBI chrNW_004936727:1,936,066...1,937,766
Ensembl chrNW_004936727:1,936,066...1,937,766
JBrowse link
G Vegfa vascular endothelial growth factor A ISO protein:decreased expression:lung: RGD PMID:15879288 RGD:7421593 NCBI chrNW_004936476:16,245,134...16,261,180
Ensembl chrNW_004936476:16,247,100...16,260,673
JBrowse link
G Wnt11 Wnt family member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25783350 NCBI chrNW_004936498:4,909,041...4,927,482
Ensembl chrNW_004936498:4,908,978...4,927,165
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_004936533:5,411,949...5,459,693
Ensembl chrNW_004936533:5,411,848...5,459,693
JBrowse link
G Zfpm2 zinc finger protein, FOG family member 2 ISO OMIM:142340 | OMIM:222400 | OMIM:610187 MouseDO NCBI chrNW_004936470:38,432,894...38,857,656
Ensembl chrNW_004936470:38,432,897...38,857,662
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_004936556:770,269...861,509
Ensembl chrNW_004936556:770,472...861,495
JBrowse link
G Sycp2 synaptonemal complex protein 2 ISO ClinVar Annotator: match by term: Cryptozoospermia ClinVar PMID:25741868 PMID:31866047 NCBI chrNW_004936514:8,264,628...8,331,577 JBrowse link
G Trim71 tripartite motif containing 71 ISO ClinVar Annotator: match by term: Cryptozoospermia ClinVar PMID:25741868 NCBI chrNW_004936473:23,223,984...23,290,177
Ensembl chrNW_004936473:23,224,588...23,290,169
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_004936471:6,791,490...6,809,048
Ensembl chrNW_004936471:6,793,492...6,808,326
JBrowse link
G Ckmt1a creatine kinase, mitochondrial 1A ISO ClinVar Annotator: match by term: Deafness-infertility syndrome ClinVar PMID:25741868 NCBI chrNW_004936471:6,754,514...6,760,025 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_004936471:6,809,181...6,834,189
Ensembl chrNW_004936471:6,809,195...6,836,169
JBrowse link
G Ppip5k1 diphosphoinositol pentakisphosphate kinase 1 ISO ClinVar Annotator: match by term: Deafness-infertility syndrome ClinVar PMID:25741868 NCBI chrNW_004936471:6,707,865...6,751,064
Ensembl chrNW_004936471:6,707,893...6,751,045
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_004936471:6,760,289...6,777,425
Ensembl chrNW_004936471:6,760,294...6,777,425
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_004936564:4,788,036...4,907,600
Ensembl chrNW_004936564:4,787,992...4,903,837
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_004936484:19,713,299...19,721,144
Ensembl chrNW_004936484:19,716,165...19,721,261
JBrowse link
G Aqp5 aquaporin 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17245593 PMID:17270560 NCBI chrNW_004936512:7,639,518...7,643,242
Ensembl chrNW_004936512:7,639,668...7,642,756
JBrowse link
G Bmp4 bone morphogenetic protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18280291 NCBI chrNW_004936697:1,054,237...1,061,468
Ensembl chrNW_004936697:1,056,636...1,061,468
JBrowse link
G Cftr CF transmembrane conductance regulator ISO CTD Direct Evidence: therapeutic CTD PMID:16473863 NCBI chrNW_004936589:1,565,933...1,719,208 JBrowse link
G Edn1 endothelin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9473106 PMID:10693666 NCBI chrNW_004936534:885,489...892,292
Ensembl chrNW_004936534:885,287...891,772
JBrowse link
G Ednra endothelin receptor type A ISO CTD Direct Evidence: marker/mechanism CTD PMID:9473106 PMID:10693666 NCBI chrNW_004936535:1,950,117...2,005,786
Ensembl chrNW_004936535:1,949,941...2,005,910
JBrowse link
G Ednrb endothelin receptor type B ISO CTD Direct Evidence: marker/mechanism CTD PMID:10693666 NCBI chrNW_004936511:3,446,864...3,478,434
Ensembl chrNW_004936511:3,446,839...3,478,434
JBrowse link
G Eln elastin ISO CTD Direct Evidence: marker/mechanism CTD PMID:10359170 NCBI chrNW_004936543:3,135,169...3,165,023 JBrowse link
G Fgf18 fibroblast growth factor 18 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17303798 NCBI chrNW_004936609:3,677,661...3,706,511
Ensembl chrNW_004936609:3,677,237...3,706,517
JBrowse link
G Foxa2 forkhead box A2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16863852 NCBI chrNW_004936620:2,966,341...2,969,349
Ensembl chrNW_004936620:2,966,341...2,969,349
JBrowse link
G Gata4 GATA binding protein 4