Send us a Message



 Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Community Projects (beta) QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap)  (beta) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes GERRC (Gene Editing Rat Resource Center) Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

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
go back to main search page
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


show annotations for term's descendants           Sort by:
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 chr20:56,785,960...56,788,815 JBrowse link
G AMHR2 anti-Mullerian hormone receptor type 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16002989 NCBI chr27:1,788,420...1,795,601
Ensembl chr27:1,789,681...1,795,533 		JBrowse link
G BMPR1A bone morphogenetic protein receptor type 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:16002989 NCBI chr 4:34,499,898...34,582,481
Ensembl chr 4:34,517,492...34,578,923 		JBrowse link
G EMX2 empty spiracles homeobox 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16002989 NCBI chr28:28,002,966...28,009,955
Ensembl chr28:28,003,710...28,009,035 		JBrowse link
G ESR1 estrogen receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16002989 NCBI chr 1:42,081,952...42,368,544
Ensembl chr 1:42,081,969...42,368,544 		JBrowse link
G HOXA10 homeobox A10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16002989 NCBI chr14:40,346,462...40,348,900
Ensembl chr14:40,346,462...40,354,396 		JBrowse link
G HOXA11 homeobox A11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16002989 NCBI chr14:40,355,907...40,360,120
Ensembl chr14:40,357,478...40,359,919 		JBrowse link
G HOXA13 homeobox A13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16002989 NCBI chr14:40,371,234...40,375,261
Ensembl chr14:40,373,059...40,375,980 		JBrowse link
G IGF1 insulin like growth factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16002989 NCBI chr15:41,203,320...41,275,964
Ensembl chr15:41,202,518...41,275,794 		JBrowse link
G LHX1 LIM homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16002989 NCBI chr 9:36,760,890...36,768,345
Ensembl chr 9:36,761,826...36,768,164 		JBrowse link
G LIF LIF interleukin 6 family cytokine ISO CTD Direct Evidence: marker/mechanism CTD PMID:16002989 NCBI chr26:23,400,226...23,418,538
Ensembl chr26:23,403,364...23,406,851 		JBrowse link
G MSX2 msh homeobox 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16513791 NCBI chr 4:38,002,724...38,007,407
Ensembl chr 4:38,002,428...38,007,407 		JBrowse link
G PAX2 paired box 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16002989 NCBI chr28:13,442,894...13,519,853
Ensembl chr28:13,442,893...13,532,094 		JBrowse link
G TIMP1 TIMP metallopeptidase inhibitor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16002989 NCBI chr  X:41,201,623...41,205,314
Ensembl chr  X:41,201,638...41,205,310 		JBrowse link
G TP63 tumor protein p63 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16002989 NCBI chr34:21,766,861...21,985,095
Ensembl chr34:21,766,496...21,983,046 		JBrowse link
G WNT4 Wnt family member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16002989 NCBI chr 2:77,112,045...77,129,702
Ensembl chr 2:77,101,300...77,127,111 		JBrowse link
G WNT5A Wnt family member 5A ISO CTD Direct Evidence: marker/mechanism CTD PMID:16002989 NCBI chr20:34,756,430...34,790,937
Ensembl chr20:34,769,930...34,786,673 		JBrowse link
G WNT7A Wnt family member 7A ISO CTD Direct Evidence: marker/mechanism CTD PMID:16002989 NCBI chr20:4,072,010...4,139,521
Ensembl chr20:4,073,929...4,139,436 		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 chr10:58,521,480...58,637,352
Ensembl chr10:58,521,552...58,637,482 		JBrowse link
G FSHR follicle stimulating hormone receptor ISO ClinVar Annotator: match by term: Ovarian dysgenesis ClinVar NCBI chr10:50,765,591...50,938,643
Ensembl chr10:50,770,995...50,938,474 		JBrowse link
G MRPS22 mitochondrial ribosomal protein S22 ISO ClinVar Annotator: match by term: 46 XX gonadal dysgenesis ClinVar PMID:28492532 PMID:29566152 NCBI chr23:35,508,478...35,536,081 JBrowse link
46,XX sex reversal 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SRY sex determining region Y ISO ClinVar Annotator: match by term: 46,XX sex reversal 1 OMIM
ClinVar		 PMID:25741868
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 chr 9:8,275,049...8,278,172
Ensembl chr 9:8,275,049...8,278,172 		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 chr14:13,644,891...13,852,829
Ensembl chr14:13,542,647...13,742,727 		JBrowse link
G BST2 bone marrow stromal cell antigen 2 ISO DNA:SNPs: : RGD PMID:26885809 RGD:14398494 NCBI chr20:45,383,757...45,387,420
Ensembl chr20:45,383,915...45,387,178 		JBrowse link
G CCL4 chemokine (C-C motif) ligand 4 ISO DNA:SNP:3' utr:rs1719153 (human) RGD PMID:16773571 RGD:5683896 NCBI chr 9:37,681,342...37,682,691
Ensembl chr 9:37,676,966...37,710,209 		JBrowse link
G CCR5 C-C motif chemokine receptor 5 ISO ClinVar Annotator: match by term: Acquired immunodeficiency syndrome, delayed progression to ClinVar PMID:9742978 PMID:12610055 PMID:12815099 NCBI chr20:42,293,288...42,297,952
Ensembl chr20:42,294,996...42,297,952 		JBrowse link
G CD209 CD209 molecule disease_progression ISO associated with factor VIII deficiency; DNA:SNP:promoter: g.-139C>T (rs2287886) (human) RGD PMID:17530998 RGD:39939010 NCBI chr20:52,517,759...52,542,085
Ensembl chr20:52,518,036...52,520,942 		JBrowse link
G CD40LG CD40 ligand treatment ISO RGD PMID:9499800 RGD:11344976 NCBI chr  X:107,001,421...107,023,007
Ensembl chr  X:107,010,890...107,023,006 		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 chr 1:110,173,781...110,191,612
Ensembl chr 1:110,173,715...110,190,125 		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 chr16:25,391,759...25,407,161
Ensembl chr16:25,391,754...25,407,048 		JBrowse link
G IFNG interferon gamma ISO ClinVar Annotator: match by term: Acquired immunodeficiency syndrome, rapid progression to ClinVar PMID:12854077 NCBI chr10:10,406,866...10,411,698
Ensembl chr10:10,406,867...10,411,698 		JBrowse link
G IGF2 insulin like growth factor 2 ISO protein:decreased expression:plasma RGD PMID:11232005 RGD:5509969 NCBI chr18:46,294,036...46,311,982
Ensembl chr18:46,294,019...46,311,982 		JBrowse link
G IL2 interleukin 2 ISO CTD Direct Evidence: therapeutic CTD PMID:9861562 NCBI chr19:17,750,780...17,756,394
Ensembl chr19:17,750,780...17,756,394 		JBrowse link
G IL4R interleukin 4 receptor ISO ClinVar Annotator: match by term: Acquired immunodeficiency syndrome, slow progression to ClinVar PMID:2278997 PMID:2307934 PMID:9620765 PMID:15712015 PMID:16189667 NCBI chr 6:19,254,183...19,280,973
Ensembl chr 6:19,254,487...19,389,291 		JBrowse link
G NCR1 natural cytotoxicity triggering receptor 1 ISO protein:decreased expression:peripheral blood mononuclear cell,natural killer cell (human) RGD PMID:27382604 RGD:40818276 NCBI chr 1:102,686,058...102,690,350
Ensembl chr 1:102,686,058...102,690,620 		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 chr12:1,086,698...1,104,268
Ensembl chr12:1,086,841...1,089,481 		JBrowse link
G TNF tumor necrosis factor ISO RGD PMID:8548330 RGD:12904035 NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425 		JBrowse link
G TNFRSF1A TNF receptor superfamily member 1A ISO RGD PMID:8548330 RGD:12904035 NCBI chr27:38,641,837...38,654,693
Ensembl chr27:38,638,753...38,700,282 		JBrowse link
G TNFRSF1B TNF receptor superfamily member 1B ISO RGD PMID:8548330 RGD:12904035 NCBI chr 2:84,140,179...84,151,219
Ensembl chr 2:84,141,911...84,157,191 		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 OMIM
ClinVar		 PMID:15805157 PMID:22374147 PMID:24129431 PMID:25741868 PMID:25758993 More... NCBI chr32:17,761,555...17,978,056
Ensembl chr32:17,870,904...18,016,444 		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 chr13:47,442,861...47,484,574
Ensembl chr13:47,442,764...47,485,042 		JBrowse link
G VEGFA vascular endothelial growth factor A ISO mRNA, protein:increased expression:endometrium RGD PMID:31596310 RGD:126925216 NCBI chr12:12,209,032...12,224,978
Ensembl chr12:12,208,231...12,224,965 		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 chr 4:60,048,502...60,050,447
Ensembl chr 4:59,941,517...60,050,298 		JBrowse link
G EPO erythropoietin treatment ISO RGD PMID:20818790 RGD:10395393 NCBI chr 6:8,994,211...8,995,954
Ensembl chr 6:8,994,211...8,996,144 		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 chr13:60,795,305...60,828,038
Ensembl chr13:60,795,305...60,827,929 		JBrowse link
G IL1B interleukin 1 beta ISO protein:increased expression:neocortex RGD PMID:17678975 RGD:1626641 NCBI chr17:37,019,329...37,033,388
Ensembl chr17:37,019,329...37,024,458 		JBrowse link
G INSR insulin receptor severity ISO protein:increased expression:cerebrospinal fluid, plasma RGD PMID:22629383 RGD:10403033 NCBI chr20:52,017,261...52,136,061
Ensembl chr20:52,021,887...52,136,046 		JBrowse link
G IRS1 insulin receptor substrate 1 severity ISO protein:decreased tyrosine phosphorylation:cerebrospinal fluid, leukocyte RGD PMID:22629383 RGD:10403033 NCBI chr25:39,624,554...39,687,991 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 chr25:32,463,361...32,468,965
Ensembl chr25:32,463,452...32,467,224 		JBrowse link
G NPY neuropeptide Y severity ISO protein:increased expression:cerebrospinal fluid RGD PMID:8815163 RGD:10431910 NCBI chr14:37,824,579...37,831,289
Ensembl chr14:37,823,861...37,831,443 		JBrowse link
G OPRM1 opioid receptor mu 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27400929 NCBI chr 1:43,972,915...44,037,477
Ensembl chr 1:43,972,219...44,141,238 		JBrowse link
G PDGFB platelet derived growth factor subunit B ISO RGD PMID:21368226 RGD:6482787 NCBI chr10:25,798,877...25,819,422
Ensembl chr10:25,798,938...25,817,746 		JBrowse link
G SLC6A4 solute carrier family 6 member 4 ISO RGD PMID:25404050 RGD:38676266 NCBI chr 9:44,224,026...44,259,655
Ensembl chr 9:44,224,229...44,259,736 		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 chr  X:88,703,551...88,708,451
Ensembl chr  X:88,705,765...88,706,853 		JBrowse link
G EGF epidermal growth factor ISO RGD PMID:19357719 RGD:6906909 NCBI chr32:30,073,541...30,166,904
Ensembl chr32:30,073,950...30,166,295 		JBrowse link
G MTOR mechanistic target of rapamycin kinase ISO RGD PMID:23678040 RGD:7245474 NCBI chr 2:84,818,893...84,939,283
Ensembl chr 2:84,787,708...84,939,114 		JBrowse link
G MYH9 myosin heavy chain 9 ISO protein:decreased expression:glomerulus RGD PMID:22313957 RGD:6903274 NCBI chr10:28,063,626...28,122,953
Ensembl chr10:28,063,624...28,122,953 		JBrowse link
G NOTCH4 notch receptor 4 ISO protein: increased expression: kidney RGD PMID:20706108 RGD:6480788 NCBI chr12:1,585,249...1,608,721
Ensembl chr12:1,587,918...1,607,760 		JBrowse link
AIDS-Related Complex term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KLRK1 killer cell lectin like receptor K1 treatment ISO RGD PMID:23018378 RGD:39018554 NCBI chr27:35,634,938...35,658,978
Ensembl chr27:35,639,280...35,658,882 		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 chr 1:13,733,849...13,900,653
Ensembl chr 1:13,731,406...13,900,658 		JBrowse link
G IL32 interleukin 32 ISO mRNA:increased expression:zone of skin, blood serum (human) RGD PMID:29037857 RGD:150340744 NCBI chr 6:38,119,287...38,122,979 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 chr27:38,204,003...38,250,771
Ensembl chr27:38,204,003...38,250,771 		JBrowse link
G TNFRSF8 TNF receptor superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9379333 NCBI chr 2:84,185,445...84,225,986
Ensembl chr 2:84,186,961...84,232,675 		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 chr 3:52,151,500...52,255,024
Ensembl chr 3:52,151,535...52,249,612 		JBrowse link
G ADAMTSL3 ADAMTS like 3 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 3:55,358,869...55,695,198
Ensembl chr 3:55,357,888...55,693,167 		JBrowse link
G ADARB2 adenosine deaminase RNA specific B2 (inactive) ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 2:33,510,081...33,848,968
Ensembl chr 2:33,510,961...33,847,412 		JBrowse link
G AHCTF1 AT-hook containing transcription factor 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 7:37,550,045...37,627,428
Ensembl chr 7:37,543,496...37,627,131 		JBrowse link
G AMELX amelogenin X-linked ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr  X:7,822,513...7,828,692
Ensembl chr  X:7,822,859...7,830,351 		JBrowse link
G AMFR autocrine motility factor receptor ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 2:59,766,910...59,803,292
Ensembl chr 2:59,767,324...59,801,883 		JBrowse link
G ANKRD24 ankyrin repeat domain 24 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr20:55,391,381...55,404,538
Ensembl chr20:55,391,652...55,404,544 		JBrowse link
G ANOS1 anosmin 1 ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:27657687 PMID:28492532 PMID:32870266 NCBI chr  X:5,413,958...5,601,663
Ensembl chr  X:5,415,575...5,762,656 		JBrowse link
G AP3B2 adaptor related protein complex 3 subunit beta 2 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 3:54,509,753...54,539,520
Ensembl chr 3:54,508,627...54,539,505 		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 chr20:55,712,908...55,720,532
Ensembl chr20:55,713,773...55,721,655 		JBrowse link
G APC APC regulator of WNT signaling pathway ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 3:252,052...380,506
Ensembl chr 3:253,081...322,993 		JBrowse link
G ARHGAP6 Rho GTPase activating protein 6 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr  X:7,704,838...8,188,358
Ensembl chr  X:7,706,156...7,951,557 		JBrowse link
G ARSA arylsulfatase A ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr10:16,691,927...16,694,346
Ensembl chr10:16,691,758...16,695,398 		JBrowse link
G ASMTL acetylserotonin O-methyltransferase like ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr  X:1,102,094...1,118,791
Ensembl chr  X:1,100,747...1,118,791 		JBrowse link
G ATCAY ATCAY kinesin light chain interacting caytaxin ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr20:55,610,124...55,641,879
Ensembl chr20:55,612,260...55,641,832 		JBrowse link
G ATP10B ATPase phospholipid transporting 10B (putative) ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 4:49,856,489...50,163,033
Ensembl chr 4:49,912,397...50,161,319 		JBrowse link
G AVEN apoptosis and caspase activation inhibitor ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr30:1,000,781...1,179,463
Ensembl chr30:991,954...1,179,114 		JBrowse link
G AXL AXL receptor tyrosine kinase ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:25741868 PMID:28492532 PMID:32870266 NCBI chr 1:112,699,679...112,727,434
Ensembl chr 1:112,700,365...112,726,960 		JBrowse link
G BCAP29 B cell receptor associated protein 29 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr18:12,969,594...13,021,948
Ensembl chr18:12,970,411...13,022,022 		JBrowse link
G BMP15 bone morphogenetic protein 15 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr  X:43,765,126...43,771,277
Ensembl chr  X:43,764,777...43,771,287 		JBrowse link
G BMP4 bone morphogenetic protein 4 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 8:29,997,563...30,254,307
Ensembl chr 8:29,997,569...30,004,557 		JBrowse link
G BNC1 basonuclin zinc finger protein 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 3:55,040,538...55,068,223
Ensembl chr 3:55,040,704...55,068,974 		JBrowse link
G BTBD1 BTB domain containing 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 3:54,794,089...54,836,568
Ensembl chr 3:54,795,705...54,827,149 		JBrowse link
G C3H15orf40 chromosome 3 C15orf40 homolog ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 3:54,788,092...54,793,197
Ensembl chr 3:54,657,075...54,794,206 		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 chr17:62,900,062...62,948,164
Ensembl chr17:62,901,422...62,948,084 		JBrowse link
G CCDC148 coiled-coil domain containing 148 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr36:4,059,318...4,342,353
Ensembl chr36:4,062,098...4,342,287 		JBrowse link
G CCSER1 coiled-coil serine rich protein 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr32:13,499,042...14,701,862
Ensembl chr32:13,355,503...14,697,519 		JBrowse link
G CD1E CD1e molecule ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr38:23,295,037...23,298,004 JBrowse link
G CDK13 cyclin dependent kinase 13 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr18:9,801,350...9,920,401
Ensembl chr18:9,803,535...9,920,281 		JBrowse link
G CHAF1A chromatin assembly factor 1 subunit A ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr20:55,248,286...55,276,425
Ensembl chr20:55,248,288...55,276,900 		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 chr29:11,115,865...11,284,713
Ensembl chr29:11,156,340...11,283,627 		JBrowse link
G CNTLN centlein ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr11:37,182,288...37,492,121
Ensembl chr11:37,061,451...37,492,049 		JBrowse link
G CPB2 carboxypeptidase B2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16167916 NCBI chr22:5,074,805...5,126,635
Ensembl chr22:5,074,816...5,126,170 		JBrowse link
G CPEB1 cytoplasmic polyadenylation element binding protein 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 3:54,405,140...54,499,614
Ensembl chr 3:54,405,717...54,500,221 		JBrowse link
G CREB3L3 cAMP responsive element binding protein 3 like 3 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr20:55,426,406...55,439,070
Ensembl chr20:55,426,813...55,436,882 		JBrowse link
G CYP17A1 cytochrome P450 family 17 subfamily A member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18645707 NCBI chr28:15,292,959...15,298,896
Ensembl chr28:15,293,106...15,298,852 		JBrowse link
G CYP19A1 cytochrome P450 family 19 subfamily A member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8265607 NCBI chr30:16,954,020...17,056,728
Ensembl chr30:16,957,215...16,988,353 		JBrowse link
G CYP2E1 cytochrome P450 family 2 subfamily E member 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr28:41,079,164...41,089,188
Ensembl chr28:41,035,025...41,122,754 		JBrowse link
G DAPK3 death associated protein kinase 3 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr20:55,590,199...55,603,883
Ensembl chr20:55,590,223...55,602,682 		JBrowse link
G DCC DCC netrin 1 receptor ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:24808016 PMID:32870266 NCBI chr 1:21,788,833...22,494,849
Ensembl chr 1:21,793,328...22,494,967 		JBrowse link
G DDX1 DEAD-box helicase 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr17:11,432,060...11,467,000
Ensembl chr17:11,432,136...11,466,990 		JBrowse link
G DENND6A DENN domain containing 6A ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr20:32,780,529...32,830,388
Ensembl chr20:32,780,579...32,830,478 		JBrowse link
G DIAPH2 diaphanous related formin 2 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr  X:69,994,674...71,044,178
Ensembl chr  X:69,994,650...71,043,198 		JBrowse link
G DLC1 DLC1 Rho GTPase activating protein ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr16:36,531,754...36,943,033
Ensembl chr16:36,531,754...36,943,033 		JBrowse link
G DMXL2 Dmx like 2 ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:28492532 PMID:32870266 NCBI chr30:17,156,077...17,308,641
Ensembl chr30:17,156,791...17,308,803 		JBrowse link
G DUSP19 dual specificity phosphatase 19 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr36:26,095,436...26,111,700
Ensembl chr36:26,095,463...26,111,774 		JBrowse link
G DUSP22 dual specificity phosphatase 22 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr35:678,320...733,225
Ensembl chr35:678,155...732,397 		JBrowse link
G EBI3 Epstein-Barr virus induced 3 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr20:55,382,975...55,391,252
Ensembl chr20:55,383,247...55,390,336 		JBrowse link
G EEF2 eukaryotic translation elongation factor 2 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr20:55,577,413...55,586,422
Ensembl chr20:55,522,213...55,586,126 		JBrowse link
G ERI1 exoribonuclease 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr16:35,441,304...35,499,501
Ensembl chr16:35,473,913...35,499,487 		JBrowse link
G FAM120B family with sequence similarity 120 member B ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr12:72,292,419...72,377,839
Ensembl chr12:72,306,154...72,381,786 		JBrowse link
G FEZF1 FEZ family zinc finger 1 ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:32870266
G FGFR1 fibroblast growth factor receptor 1 ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:32870266 NCBI chr16:27,029,902...27,080,514
Ensembl chr16:27,031,588...27,078,261 		JBrowse link
G FHIT fragile histidine triad diadenosine triphosphatase ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr20:29,735,380...31,113,859
Ensembl chr20:30,356,572...31,113,859 		JBrowse link
G FLRT3 fibronectin leucine rich transmembrane protein 3 ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:32870266 NCBI chr24:8,354,151...8,367,601
Ensembl chr24:8,364,115...8,366,064 		JBrowse link
G FSD1 fibronectin type III and SPRY domain containing 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr20:55,333,937...55,344,861
Ensembl chr20:55,333,785...55,344,843 		JBrowse link
G FSD2 fibronectin type III and SPRY domain containing 2 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 3:54,580,878...54,622,195
Ensembl chr 3:54,581,923...54,605,459 		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 chr21:50,279,320...50,282,843
Ensembl chr21:50,280,208...50,282,680 		JBrowse link
G FSHR follicle stimulating hormone receptor ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:25741868 NCBI chr10:50,765,591...50,938,643
Ensembl chr10:50,770,995...50,938,474 		JBrowse link
G FZD6 frizzled class receptor 6 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr13:4,732,541...4,771,294
Ensembl chr13:4,733,017...4,772,115 		JBrowse link
G GABRB2 gamma-aminobutyric acid type A receptor subunit beta2 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 4:49,342,527...49,579,697
Ensembl chr 4:49,342,508...49,578,092 		JBrowse link
G GADL1 glutamate decarboxylase like 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr23:13,697,028...13,859,980
Ensembl chr23:13,696,741...13,859,358 		JBrowse link
G GNRH1 gonadotropin releasing hormone 1 ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:32870266 NCBI chr25:32,038,631...32,043,192
Ensembl chr25:32,039,613...32,043,028 		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 chr13:58,253,112...58,266,600
Ensembl chr13:58,253,027...58,266,705 		JBrowse link
G GPBP1L1 GC-rich promoter binding protein 1 like 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr15:14,672,628...14,734,045
Ensembl chr15:14,701,923...14,734,056 		JBrowse link
G GPR37L1 G protein-coupled receptor 37 like 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 7:882,672...887,679
Ensembl chr 7:883,279...887,811 		JBrowse link
G GXYLT1 glucoside xylosyltransferase 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr27:11,754,609...11,810,245
Ensembl chr27:11,765,072...11,807,787 		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 chr20:33,193,813...33,197,226
Ensembl chr20:33,195,123...33,196,601 		JBrowse link
G IPP intracisternal A particle-promoted polypeptide ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr15:14,621,969...14,669,728
Ensembl chr15:14,621,600...14,669,561 		JBrowse link
G KBTBD12 kelch repeat and BTB domain containing 12 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr20:1,955,638...2,034,355
Ensembl chr20:1,964,607...2,032,036 		JBrowse link
G KL klotho ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:25741868 PMID:32870266 NCBI chr25:7,154,359...7,201,744
Ensembl chr25:7,156,620...7,199,558 		JBrowse link
G KLB klotho beta ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:32870266 NCBI chr 3:72,996,725...73,033,566
Ensembl chr 3:72,998,816...73,033,651 		JBrowse link
G LHX3 LIM homeobox 3 ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:32870266 NCBI chr 9:49,248,555...49,254,128
Ensembl chr 9:49,248,621...49,254,118 		JBrowse link
G LOC100684393 small nuclear ribonucleoprotein-associated proteins B and B' ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr20:55,349,126...55,350,721 JBrowse link
G LOC106559648 zinc finger protein OZF-like ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 1:103,910,582...103,934,056 JBrowse link
G LOC477391 zinc finger protein 596-like ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr25:37,275,514...37,308,518 JBrowse link
G LOC478089 general transcription factor IIH subunit 2 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 2:54,553,871...54,579,695
Ensembl chr 2:54,554,578...54,628,670 		JBrowse link
G LOC491694 scavenger receptor cysteine-rich domain-containing protein SCART1-like ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr28:41,012,407...41,021,862 JBrowse link
G LRG1 leucine rich alpha-2-glycoprotein 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr20:55,177,777...55,180,382
Ensembl chr20:55,177,824...55,180,369 		JBrowse link
G LRIG2 leucine rich repeats and immunoglobulin like domains 2 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr17:62,487,802...62,548,883
Ensembl chr17:62,489,462...62,548,666 		JBrowse link
G MACROD2 mono-ADP ribosylhydrolase 2 ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:32870266 NCBI chr24:6,740,943...8,673,524
Ensembl chr24:6,744,744...8,673,275 		JBrowse link
G MAP2K2 mitogen-activated protein kinase kinase 2 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr20:55,465,460...55,487,629
Ensembl chr20:55,465,212...55,487,641 		JBrowse link
G MAST2 microtubule associated serine/threonine kinase 2 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr15:14,361,225...14,569,502
Ensembl chr15:14,361,281...14,569,878 		JBrowse link
G MATK megakaryocyte-associated tyrosine kinase ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr20:55,697,377...55,704,212
Ensembl chr20:55,698,350...55,704,022 		JBrowse link
G MGLL monoglyceride lipase ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr20:1,765,650...1,880,710
Ensembl chr20:1,766,216...1,943,588 		JBrowse link
G MIR1839 microRNA mir-1839 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 3:54,579,692...54,579,764
Ensembl chr 3:54,579,692...54,579,764 		JBrowse link
G MOV10 Mov10 RNA helicase ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr17:62,872,607...62,896,208
Ensembl chr17:62,872,756...62,896,395 		JBrowse link
G MPND MPN domain containing ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr20:55,311,890...55,320,226
Ensembl chr20:55,304,529...55,320,196 		JBrowse link
G MRPL54 mitochondrial ribosomal protein L54 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr20:55,709,341...55,712,729
Ensembl chr20:55,710,281...55,712,268 		JBrowse link
G MSL3 MSL complex subunit 3 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr  X:8,294,797...8,311,142
Ensembl chr  X:8,294,802...8,310,751 		JBrowse link
G MYCN MYCN proto-oncogene, bHLH transcription factor ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr17:11,720,857...11,724,308 JBrowse link
G NBAS NBAS subunit of NRZ tethering complex ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr17:11,091,536...11,410,284
Ensembl chr17:11,091,543...11,430,839 		JBrowse link
G NCAM2 neural cell adhesion molecule 2 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr31:16,912,768...17,434,854
Ensembl chr31:16,912,908...17,429,510 		JBrowse link
G NCKAP5 NCK associated protein 5 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr19:35,631,900...36,588,124
Ensembl chr19:35,632,939...36,449,082 		JBrowse link
G NKX2-6 NK2 homeobox 6 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr25:33,781,294...33,787,460
Ensembl chr25:33,781,249...33,785,761 		JBrowse link
G NKX3-1 NK3 homeobox 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr25:33,815,343...33,817,465
Ensembl chr25:33,815,095...33,817,474 		JBrowse link
G NUP35 nucleoporin 35 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr36:26,128,838...26,168,664
Ensembl chr36:26,135,065...26,168,298 		JBrowse link
G OCLN occludin ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 2:54,500,299...54,545,430
Ensembl chr 2:54,500,299...54,545,430 		JBrowse link
G OR51B5 olfactory receptor family 51 subfamily B member 5 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr21:28,262,174...28,263,112
Ensembl chr21:28,281,456...28,282,394 		JBrowse link
G OR51I2P olfactory receptor family 51 subfamily I member 2, pseudogene ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr21:28,525,381...28,527,479 JBrowse link
G OTUD4 OTU deubiquitinase 4 ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:32870266 NCBI chr15:43,816,656...43,861,813
Ensembl chr15:43,818,196...43,861,784 		JBrowse link
G P2RY8 P2Y receptor family member 8 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr  X:1,060,204...1,097,471 JBrowse link
G PCSK5 proprotein convertase subtilisin/kexin type 5 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 1:82,088,090...82,506,131
Ensembl chr 1:82,090,664...82,555,145 		JBrowse link
G PIAS4 protein inhibitor of activated STAT 4 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr20:55,529,841...55,553,604
Ensembl chr20:55,524,443...55,553,525 		JBrowse link
G PLIN4 perilipin 4 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr20:55,192,340...55,204,878
Ensembl chr20:55,192,559...55,203,039 		JBrowse link
G PLIN5 perilipin 5 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr20:55,181,171...55,189,369
Ensembl chr20:55,181,198...55,189,366 		JBrowse link
G PNPLA4 patatin like phospholipase domain containing 4 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr  X:4,775,702...4,925,027
Ensembl chr  X:4,874,240...4,924,976 		JBrowse link
G PNPLA6 patatin like phospholipase domain containing 6 ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:28492532 PMID:32870266 NCBI chr20:52,327,547...52,349,006
Ensembl chr20:52,318,408...52,348,963 		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 chr10:32,202,188...32,309,775
Ensembl chr10:32,202,190...32,309,614 		JBrowse link
G POR cytochrome p450 oxidoreductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:14758361 NCBI chr 6:7,247,780...7,316,282
Ensembl chr 6:7,263,574...7,316,297 		JBrowse link
G PPM1J protein phosphatase, Mg2+/Mn2+ dependent 1J ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr17:62,858,620...62,863,869
Ensembl chr17:62,858,338...62,863,884 		JBrowse link
G PRKAA1 protein kinase AMP-activated catalytic subunit alpha 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 4:68,579,061...68,614,548
Ensembl chr 4:68,579,037...68,611,841 		JBrowse link
G PRL prolactin ISO CTD Direct Evidence: marker/mechanism CTD PMID:6777091 NCBI chr35:20,673,830...20,683,824
Ensembl chr35:20,673,839...20,683,824 		JBrowse link
G PROK2 prokineticin 2 ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:32870266
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 chr24:16,351,912...16,364,139
Ensembl chr24:16,351,806...16,375,217 		JBrowse link
G PROP1 PROP paired-like homeobox 1 ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:28492532 PMID:32870266 NCBI chr11:2,739,958...2,742,576
Ensembl chr11:2,739,958...2,743,533 		JBrowse link
G PSMB1 proteasome 20S subunit beta 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr12:72,440,224...72,456,304
Ensembl chr12:72,440,224...72,456,284 		JBrowse link
G PTCHD1 patched domain containing 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr  X:19,096,787...19,153,367
Ensembl chr  X:19,096,559...19,148,528 		JBrowse link
G PUDP pseudouridine 5'-phosphatase ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr  X:4,185,144...4,325,866
Ensembl chr  X:4,247,982...4,325,870 		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 chr19:37,861,844...38,006,433
Ensembl chr19:37,861,804...37,963,501 		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 chr38:14,927,670...15,025,554
Ensembl chr38:14,928,628...15,025,865 		JBrowse link
G RAMAC RNA guanine-7 methyltransferase activating subunit ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 3:54,776,831...54,782,047
Ensembl chr 3:54,776,826...54,781,270 		JBrowse link
G RAX2 retina and anterior neural fold homeobox 2 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr20:55,706,422...55,709,141
Ensembl chr20:55,707,126...55,708,225 		JBrowse link
G RHOC ras homolog family member C ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr17:62,868,373...62,872,322 JBrowse link
G RREB1 ras responsive element binding protein 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr35:7,120,505...7,255,290
Ensembl chr35:7,120,472...7,255,105 		JBrowse link
G RYR3 ryanodine receptor 3 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr30:1,179,575...1,533,352
Ensembl chr30:1,180,359...1,533,619 		JBrowse link
G SEMA3A semaphorin 3A ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:22927827 PMID:28492532 PMID:32870266 NCBI chr18:23,411,607...23,866,631
Ensembl chr18:23,414,576...23,867,098 		JBrowse link
G SEMA3E semaphorin 3E ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:28492532 PMID:32870266 NCBI chr18:22,881,135...22,982,549
Ensembl chr18:22,881,133...23,116,696 		JBrowse link
G SEMA6B semaphorin 6B ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr20:55,151,913...55,173,434
Ensembl chr20:55,161,818...55,173,135 		JBrowse link
G SERF1A small EDRK-rich factor 1A ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 2:54,647,131...54,654,434
Ensembl chr 2:54,647,131...54,654,118 		JBrowse link
G SH3GL1 SH3 domain containing GRB2 like 1, endophilin A2 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr20:55,279,622...55,311,579
Ensembl chr20:55,279,621...55,311,536 		JBrowse link
G SH3GL3 SH3 domain containing GRB2 like 3, endophilin A3 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 3:55,287,460...55,340,736
Ensembl chr 3:55,287,460...55,340,571 		JBrowse link
G SHANK3 SH3 and multiple ankyrin repeat domains 3 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr10:16,621,445...16,665,366 JBrowse link
G SHD Src homology 2 domain containing transforming protein D ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr20:55,356,407...55,361,675
Ensembl chr20:55,356,169...55,361,681 		JBrowse link
G SIRT6 sirtuin 6 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr20:55,412,989...55,424,944
Ensembl chr20:55,412,646...55,424,944 		JBrowse link
G SLC16A1 solute carrier family 16 member 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr17:62,636,600...62,690,491
Ensembl chr17:62,622,902...62,787,481 		JBrowse link
G SLC5A5 solute carrier family 5 member 5 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr20:45,017,939...45,030,598
Ensembl chr20:45,018,119...45,030,209 		JBrowse link
G SLMAP sarcolemma associated protein ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr20:32,592,576...32,738,515
Ensembl chr20:32,594,417...32,738,823 		JBrowse link
G SMN survival motor neuron ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 2:54,596,000...54,636,837
Ensembl chr 2:54,596,008...54,636,804 		JBrowse link
G SMYD3 SET and MYND domain containing 3 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 7:36,561,080...37,250,336
Ensembl chr 7:36,565,901...37,250,578 		JBrowse link
G SOX2 SRY-box transcription factor 2 ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:28492532 PMID:32870266 NCBI chr34:14,853,000...14,855,153 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 chr 2:37,199,890...37,213,710
Ensembl chr 2:37,203,609...37,208,858 		JBrowse link
G STAP2 signal transducing adaptor family member 2 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr20:55,325,492...55,336,547
Ensembl chr20:55,325,486...55,336,446 		JBrowse link
G STS steroid sulfatase ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr  X:4,396,867...4,470,093
Ensembl chr  X:4,325,665...4,467,284 		JBrowse link
G SYCE1 synaptonemal complex central element protein 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr28:41,149,228...41,157,422
Ensembl chr28:41,149,229...41,157,371 		JBrowse link
G TACR3 tachykinin receptor 3 ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:32870266 NCBI chr32:24,812,344...24,888,452
Ensembl chr32:24,812,119...24,907,580 		JBrowse link
G TAFA3 TAFA chemokine like family member 3 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106
G TBP TATA-box binding protein ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr12:72,458,959...72,479,271
Ensembl chr12:72,459,041...72,479,124 		JBrowse link
G TJP3 tight junction protein 3 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr20:55,720,632...55,746,776
Ensembl chr20:55,720,632...55,746,965 		JBrowse link
G TM6SF1 transmembrane 6 superfamily member 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 3:54,852,885...54,933,714
Ensembl chr 3:54,874,894...54,902,805 		JBrowse link
G TMEM69 transmembrane protein 69 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr15:14,666,926...14,671,839
Ensembl chr15:14,667,231...14,671,622 		JBrowse link
G TP63 tumor protein p63 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr34:21,766,861...21,985,095
Ensembl chr34:21,766,496...21,983,046 		JBrowse link
G TSHZ2 teashirt zinc finger homeobox 2 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr24:39,124,993...39,354,202
Ensembl chr24:38,995,063...39,346,728 		JBrowse link
G UBXN6 UBX domain protein 6 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr20:55,228,026...55,246,333
Ensembl chr20:55,227,729...55,245,940 		JBrowse link
G VLDLR very low density lipoprotein receptor ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 1:91,242,010...91,277,030
Ensembl chr 1:91,241,509...91,272,495 		JBrowse link
G WDR11 WD repeat domain 11 ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:32870266 NCBI chr28:30,769,223...30,828,628
Ensembl chr28:30,769,219...30,828,049 		JBrowse link
G WDR37 WD repeat domain 37 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 2:33,865,534...33,912,119
Ensembl chr 2:33,682,418...33,923,843 		JBrowse link
G WHAMM WASP homolog associated with actin, golgi membranes and microtubules ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 3:54,625,353...54,645,183
Ensembl chr 3:54,625,263...54,644,644 		JBrowse link
G XPO1 exportin 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr10:61,541,647...61,588,397
Ensembl chr10:61,542,211...61,585,054 		JBrowse link
G YAF2 YY1 associated factor 2 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr27:11,676,243...11,746,118
Ensembl chr27:11,675,909...11,744,683 		JBrowse link
G YJU2 YJU2 splicing factor homolog ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr20:55,367,512...55,380,755
Ensembl chr20:55,368,480...55,380,679 		JBrowse link
G ZBTB7A zinc finger and BTB domain containing 7A ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr20:55,517,531...55,527,071
Ensembl chr20:55,505,916...55,523,736 		JBrowse link
G ZFR2 zinc finger RNA binding protein 2 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr20:55,648,604...55,693,281
Ensembl chr20:55,648,648...55,684,936 		JBrowse link
G ZNF217 zinc finger protein 217 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr24:39,411,531...39,423,614
Ensembl chr24:39,412,277...39,438,204 		JBrowse link
anogenital venereal wart term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B9D2 B9 domain containing 2 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 1:112,621,832...112,627,726
Ensembl chr 1:112,621,633...112,643,885 		JBrowse link
G CCL20 C-C motif chemokine ligand 20 ISO protein:decreased expression:skin RGD PMID:17545018 RGD:7483603 NCBI chr25:40,506,385...40,509,903
Ensembl chr25:40,506,753...40,509,709 		JBrowse link
G CD8A CD8 subunit alpha ISO mRNA:decreased expression:zone of skin (human) RGD PMID:25774455 RGD:36174028 NCBI chr17:38,396,022...38,400,508
Ensembl chr17:38,369,414...38,400,508 		JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr37:12,647,712...12,653,874
Ensembl chr37:12,634,563...12,653,874 		JBrowse link
G FOXP3 forkhead box P3 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr  X:42,331,229...42,362,841
Ensembl chr  X:42,344,108...42,350,758 		JBrowse link
G IL10 interleukin 10 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 7:5,933,285...5,937,057
Ensembl chr 7:5,933,285...5,937,057 		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 chr 4:51,178,637...51,194,606
Ensembl chr 4:51,183,568...51,193,228 		JBrowse link
G IL2 interleukin 2 ISO protein:decreased expression:peripheral blood mononuclear cells (human) RGD PMID:23754510 RGD:40400714 NCBI chr19:17,750,780...17,756,394
Ensembl chr19:17,750,780...17,756,394 		JBrowse link
G IL21 interleukin 21 ISO protein:decreased expression:blood serum (human) RGD PMID:31414711 RGD:127285371 NCBI chr19:17,641,833...17,651,275
Ensembl chr19:17,641,833...17,651,266 		JBrowse link
G IL4 interleukin 4 treatment ISO protein:increased expression:peripheral blood mononuclear cells (human) RGD PMID:16114559 PMID:23754510 RGD:40400714 RGD:7829774 NCBI chr11:20,972,693...20,981,539
Ensembl chr11:20,972,690...20,981,534 		JBrowse link
G IL6 interleukin 6 ISO protein:decreased expression:peripheral blood mononuclear cells (human) RGD PMID:23754510 RGD:40400714 NCBI chr14:36,474,268...36,478,519
Ensembl chr14:36,473,394...36,478,519 		JBrowse link
G KLRK1 killer cell lectin like receptor K1 ISO mRNA,protein:decreased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr27:35,634,938...35,658,978
Ensembl chr27:35,639,280...35,658,882 		JBrowse link
G MAPK8 mitogen-activated protein kinase 8 treatment ISO mRNA:increased expression:zone of skin (human) RGD PMID:25774455 RGD:36174028 NCBI chr28:323,361...410,367
Ensembl chr28:368,513...406,401 		JBrowse link
G MYD88 MYD88 innate immune signal transduction adaptor ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr23:7,901,578...7,905,274
Ensembl chr23:7,901,250...7,904,534 		JBrowse link
G NCR1 natural cytotoxicity triggering receptor 1 ISO mRNA,protein:decreased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 1:102,686,058...102,690,350
Ensembl chr 1:102,686,058...102,690,620 		JBrowse link
G PDCD1 programmed cell death 1 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr25:51,606,559...51,618,903
Ensembl chr25:51,608,173...51,618,723 		JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 ISO protein:increased expression:foreskin RGD PMID:18543080 RGD:39128248 NCBI chr26:9,989,218...10,072,245
Ensembl chr26:9,989,425...10,067,481 		JBrowse link
G PTPN6 protein tyrosine phosphatase non-receptor type 6 ISO protein:increased expression:foreskin RGD PMID:18543080 RGD:39128248 NCBI chr27:38,084,976...38,101,552
Ensembl chr27:38,084,980...38,101,937 		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 chr 9:45,891,368...45,902,768
Ensembl chr 9:45,891,410...45,902,765 		JBrowse link
G TLR2 toll like receptor 2 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr15:51,454,557...51,465,429
Ensembl chr15:51,454,695...51,465,241 		JBrowse link
G TLR3 toll like receptor 3 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr16:44,617,012...44,633,591
Ensembl chr16:44,550,846...44,653,247 		JBrowse link
G TLR4 toll like receptor 4 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr11:71,356,390...71,367,166
Ensembl chr11:71,356,390...71,367,165 		JBrowse link
G TLR7 toll like receptor 7 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr  X:9,331,243...9,360,461
Ensembl chr  X:9,314,815...9,359,603 		JBrowse link
G TLR8 toll like receptor 8 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr  X:9,381,159...9,399,938 JBrowse link
G TLR9 toll like receptor 9 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr20:37,529,322...37,547,117
Ensembl chr20:37,542,340...37,547,114
Ensembl chr20:37,542,340...37,547,114 		JBrowse link
G TNF tumor necrosis factor ISO protein:increased expression:peripheral blood mononuclear cells (human) RGD PMID:23754510 RGD:40400714 NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425 		JBrowse link
G TNFRSF18 TNF receptor superfamily member 18 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 5:56,394,559...56,397,502
Ensembl chr 5:56,394,659...56,397,741 		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 chr 7:2,925,915...3,062,118
Ensembl chr 7:2,927,326...3,062,348 		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 OMIM NCBI chr  X:88,308,817...88,399,682
Ensembl chr  X:88,308,888...88,398,810 		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 chr18:53,958,380...53,971,120
Ensembl chr18:53,958,475...53,971,119 		JBrowse link
G CFAP251 cilia and flagella associated protein 251 ISO ClinVar Annotator: match by term: asthenozoospermia ClinVar PMID:30122541 NCBI chr26:7,308,893...7,375,133
Ensembl chr26:7,308,902...7,375,376 		JBrowse link
G PLAU plasminogen activator, urokinase ISO CTD Direct Evidence: marker/mechanism
mRNA, protein:decreased expression:testes, epididymis (rat)		 CTD
RGD		 PMID:18998460 RGD:7241809 NCBI chr 4:24,329,139...24,333,893
Ensembl chr 4:24,328,925...24,334,851 		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 chr  X:14,996,196...15,131,338
Ensembl chr  X:14,994,625...15,131,844 		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:1283148 PMID:1283149 PMID:1284466 PMID:1284477 More... NCBI chr14:56,290,417...56,452,919
Ensembl chr14:56,290,275...56,453,977 		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 chr32:32,135,110...32,270,732
Ensembl chr32:32,136,738...32,267,264 		JBrowse link
G ANK2 ankyrin 2 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr32:32,484,196...33,143,295
Ensembl chr32:32,671,281...33,141,036 		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 chr32:32,083,077...32,123,857
Ensembl chr32:32,083,105...32,122,200 		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 chr32:31,990,486...32,034,616
Ensembl chr32:31,990,621...32,029,631 		JBrowse link
G FOXC1 forkhead box C1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14630904
G LARP7 La ribonucleoprotein 7, transcriptional regulator ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr32:32,421,648...32,439,431
Ensembl chr32:32,421,675...32,439,131 		JBrowse link
G MIR302A microRNA mir-302a ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr32:32,429,209...32,429,277
Ensembl chr32:32,429,209...32,429,277 		JBrowse link
G MIR302B microRNA mir-302b ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr32:32,429,500...32,429,574
Ensembl chr32:32,429,500...32,429,574 		JBrowse link
G MIR302C microRNA mir-302c ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr32:32,429,366...32,429,433
Ensembl chr32:32,429,366...32,429,433 		JBrowse link
G MIR302D microRNA mir-302d ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr32:32,429,032...32,429,101
Ensembl chr32:32,429,032...32,429,101 		JBrowse link
G MIR367 microRNA mir-367 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr32:32,428,905...32,428,972
Ensembl chr32:32,428,905...32,428,972 		JBrowse link
G NEUROG2 neurogenin 2 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr32:32,310,939...32,313,492
Ensembl chr32:32,312,097...32,312,915 		JBrowse link
G PAX6 paired box 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14630904
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:10051017 PMID:10490637 More... NCBI chr32:30,710,161...30,730,162
Ensembl chr32:30,710,685...30,730,273 		JBrowse link
G PRDM5 PR/SET domain 5 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:26489929 NCBI chr19:19,129,418...19,327,377
Ensembl chr19:19,129,081...19,325,590 		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 chr32:32,125,870...32,135,159
Ensembl chr32:32,126,634...32,127,191 		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 chr32:32,344,348...32,421,485
Ensembl chr32:32,344,791...32,418,441 		JBrowse link
azoospermia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALB albumin ISO CTD Direct Evidence: therapeutic CTD PMID:27289041 NCBI chr13:62,133,747...62,169,349
Ensembl chr13:62,053,814...62,294,709 		JBrowse link
G BCL2 BCL2 apoptosis regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:20610805 NCBI chr 1:13,733,849...13,900,653
Ensembl chr 1:13,731,406...13,900,658 		JBrowse link
G BCL2L2 BCL2 like 2 ISO RGD PMID:9770502 RGD:14394611 NCBI chr 8:3,569,335...3,573,922
Ensembl chr 8:3,569,399...3,586,070 		JBrowse link
G BRDT bromodomain testis associated susceptibility ISO DNA:SNP: :rs3088232(human)
protein:decreased expression:testis:		 RGD PMID:22016351 PMID:22035730 RGD:9586359 RGD:9586360 NCBI chr 6:56,918,939...56,977,355
Ensembl chr 6:56,919,195...56,965,638 		JBrowse link
G BSCL2 BSCL2 lipid droplet biogenesis associated, seipin ISO RGD PMID:25934999 RGD:11085488 NCBI chr18:53,958,380...53,971,120
Ensembl chr18:53,958,475...53,971,119 		JBrowse link
G C8H14orf39 chromosome 8 C14orf39 homolog ISO ClinVar Annotator: match by term: Azoospermia ClinVar PMID:33508233 NCBI chr 8:35,486,476...35,542,214
Ensembl chr 8:35,487,228...35,542,218 		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 chr14:56,290,417...56,452,919
Ensembl chr14:56,290,275...56,453,977 		JBrowse link
G DDX25 DEAD-box helicase 25 ISO ClinVar Annotator: match by term: Azoospermia ClinVar NCBI chr 5:8,566,748...8,585,965
Ensembl chr 5:8,566,754...8,586,020 		JBrowse link
G DMC1 DNA meiotic recombinase 1 ISO ClinVar Annotator: match by term: Azoospermia ClinVar NCBI chr10:26,228,662...26,265,377
Ensembl chr10:26,230,428...26,264,820 		JBrowse link
G EPAS1 endothelial PAS domain protein 1 ISO RGD PMID:14608355 RGD:734934 NCBI chr10:48,550,836...48,636,776
Ensembl chr10:48,551,410...48,634,844 		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 chr 1:110,130,353...110,146,660
Ensembl chr 1:110,130,481...110,146,602 		JBrowse link
G FAHD1 fumarylacetoacetate hydrolase domain containing 1 ISO ClinVar Annotator: match by term: Azoospermia ClinVar NCBI chr 6:39,082,536...39,084,248
Ensembl chr 6:39,070,562...39,083,971 		JBrowse link
G FANCM FA complementation group M ISO ClinVar Annotator: match by term: Azoospermia ClinVar PMID:17289582 PMID:18174376 PMID:19379763 PMID:23932590 PMID:24003026 More... NCBI chr 8:22,561,862...22,625,077
Ensembl chr 8:22,562,147...22,623,994 		JBrowse link
G GCNA germ cell nuclear acidic peptidase ISO ClinVar Annotator: match by term: Azoospermia ClinVar PMID:35172124 NCBI chr  X:55,859,750...55,881,164
Ensembl chr  X:55,860,661...55,880,678 		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 chr 1:57,790,118...57,829,022
Ensembl chr 1:57,792,647...57,828,820 		JBrowse link
G HENMT1 HEN methyltransferase 1 ISO ClinVar Annotator: match by term: Azoospermia ClinVar
G HFM1 helicase for meiosis 1 ISO ClinVar Annotator: match by term: Azoospermia ClinVar NCBI chr 6:57,403,006...57,541,616
Ensembl chr 6:57,403,471...57,534,615 		JBrowse link
G HSD17B10 hydroxysteroid 17-beta dehydrogenase 10 ISO mRNA:increased expression:testis RGD PMID:9851691 RGD:13792783 NCBI chr  X:45,165,272...45,167,683
Ensembl chr  X:45,165,272...45,167,574 		JBrowse link
G KASH5 KASH domain containing 5 ISO ClinVar Annotator: match by term: Azoospermia ClinVar NCBI chr 1:107,074,010...107,114,460
Ensembl chr 1:107,074,010...107,097,762 		JBrowse link
G LOC102152531 synaptonemal complex protein 3-like ISO CTD Direct Evidence: marker/mechanism
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
MouseDO		 PMID:14643120 NCBI chr  X:121,060,275...121,074,166 JBrowse link
G MCM8 minichromosome maintenance 8 homologous recombination repair factor ISO ClinVar Annotator: match by term: Azoospermia ClinVar NCBI chr24:15,850,602...15,893,452
Ensembl chr24:15,814,770...15,893,458 		JBrowse link
G MCMDC2 minichromosome maintenance domain containing 2 ISO ClinVar Annotator: match by term: Azoospermia ClinVar NCBI chr29:16,424,088...16,462,094
Ensembl chr29:16,426,318...16,460,599 		JBrowse link
G MEIOB meiosis specific with OB-fold ISO ClinVar Annotator: match by term: Azoospermia ClinVar NCBI chr 6:39,048,335...39,075,957
Ensembl chr 6:39,048,278...39,076,035 		JBrowse link
G MIR506 microRNA mir-506 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27107421 NCBI chr  X:115,652,383...115,652,517
Ensembl chr  X:115,652,383...115,652,517 		JBrowse link
G MOV10L1 Mov10 like RNA helicase 1 ISO ClinVar Annotator: match by term: Azoospermia ClinVar NCBI chr10:17,067,273...17,139,910
Ensembl chr10:17,067,273...17,240,197 		JBrowse link
G MSH5 mutS homolog 5 ISO ClinVar Annotator: match by term: Azoospermia ClinVar NCBI chr12:1,221,278...1,243,042 JBrowse link
G PDHA2 pyruvate dehydrogenase E1 subunit alpha 2 ISO ClinVar Annotator: match by term: Azoospermia ClinVar PMID:29581481 PMID:35172124
G REC8 REC8 meiotic recombination protein ISO ClinVar Annotator: match by term: Azoospermia ClinVar NCBI chr 8:4,165,637...4,171,488
Ensembl chr 8:4,165,879...4,171,486 		JBrowse link
G TDRD9 tudor domain containing 9 ISO ClinVar Annotator: match by term: Azoospermia ClinVar NCBI chr 8:71,610,653...71,717,772
Ensembl chr 8:71,610,711...71,717,199 		JBrowse link
G TDRKH tudor and KH domain containing ISO ClinVar Annotator: match by term: Azoospermia ClinVar NCBI chr17:60,794,937...60,807,852
Ensembl chr17:60,795,813...60,805,449 		JBrowse link
G TERB1 telomere repeat binding bouquet formation protein 1 ISO ClinVar Annotator: match by term: Azoospermia ClinVar NCBI chr 5:82,486,920...82,537,347
Ensembl chr 5:82,487,597...82,534,561 		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 chr  X:80,456,313...80,491,944
Ensembl chr  X:80,483,333...80,530,012 		JBrowse link
bacterial vaginosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MBL1 mannose binding lectin 1 ISO DNA:SNP:cds: RGD PMID:17470593 RGD:8693700 NCBI chr 4:29,419,886...29,424,377 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 PMID:11175783 PMID:11468277 PMID:11776388 PMID:12400065 PMID:12529855 More... NCBI chr23:35,145,856...35,147,185 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 chr 5:29,294,080...29,314,837
Ensembl chr 5:29,294,692...29,312,771 		JBrowse link
G BIRC3 baculoviral IAP repeat containing 3 ISO mRNA:increased expression:perianal skin (human) RGD PMID:20346172 RGD:152998971 NCBI chr 5:29,324,893...29,343,322
Ensembl chr 5:29,325,331...29,337,240 		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 chr17:53,233,966...53,299,093
Ensembl chr17:53,224,438...53,299,708 		JBrowse link
G CDX2 caudal type homeobox 2 ISO ClinVar Annotator: match by term: Sirenomelia ClinVar PMID:25741868 NCBI chr25:11,701,134...11,707,883
Ensembl chr25:11,700,779...11,707,127 		JBrowse link
G PCSK5 proprotein convertase subtilisin/kexin type 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18519639 NCBI chr 1:82,088,090...82,506,131
Ensembl chr 1:82,090,664...82,555,145 		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 chr 1:114,461,350...114,579,577
Ensembl chr 1:114,461,348...114,579,493 		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 chr17:53,174,080...53,227,616
Ensembl chr17:53,174,127...53,220,765 		JBrowse link
G ZBTB16 zinc finger and BTB domain containing 16 ISO RGD PMID:27727328 RGD:40924666 NCBI chr 5:19,082,594...19,284,360
Ensembl chr 5:19,087,154...19,267,628 		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 chr 2:42,112,015...42,120,738
Ensembl chr 2:42,112,016...42,120,706 		JBrowse link
G TFF1 trefoil factor 1 ISO mRNA, protein:increased expression:uterine cervix RGD PMID:10727981 RGD:2298570 NCBI chr31:36,681,478...36,684,571
Ensembl chr31:36,681,357...36,695,665 		JBrowse link
G TFRC transferrin receptor ISO protein:increased expression:uterine cervix RGD PMID:9739406 RGD:2292022 NCBI chr33:29,206,024...29,237,221
Ensembl chr33:29,208,609...29,238,242 		JBrowse link
G TP53 tumor protein p53 disease_progression ISO RGD PMID:17354237 RGD:2298527 NCBI chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109 		JBrowse link
cervical cancer term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APEX1 apurinic/apyrimidinic endodeoxyribonuclease 1 ISO DNA:polymorphism: :p.D148E (human) RGD PMID:18503157 PMID:19292061 RGD:2315657 RGD:2315662 NCBI chr15:17,786,808...17,789,422
Ensembl chr15:17,786,357...17,789,422 		JBrowse link
G API5 apoptosis inhibitor 5 disease_progression ISO mRNA:increased expression RGD PMID:10780674 RGD:1643340 NCBI chr18:26,326,387...26,355,580
Ensembl chr18:26,327,920...26,355,585 		JBrowse link
G BCL2L1 BCL2 like 1 ISO protein:increased expression:uterine cervix RGD PMID:17311011 RGD:1643476 NCBI chr24:21,145,214...21,209,425
Ensembl chr24:21,145,215...21,196,355 		JBrowse link
G BIRC2 baculoviral IAP repeat containing 2 ISO mRNA:decreased expression:uterine cervix RGD PMID:16504151 RGD:1643527 NCBI chr 5:29,294,080...29,314,837
Ensembl chr 5:29,294,692...29,312,771 		JBrowse link
G BRCA1 BRCA1 DNA repair associated disease_progression ISO DNA:hypermethylation:promoter RGD PMID:12773202 RGD:2298941 NCBI chr 9:19,958,941...20,025,494
Ensembl chr 9:19,958,391...20,025,494 		JBrowse link
G BRIP1 BRCA1 interacting helicase 1 ISO ClinVar Annotator: match by term: Cervical cancer ClinVar PMID:18483852 PMID:25741868 PMID:26467025 PMID:26790966 PMID:28492532 More... NCBI chr 9:34,804,285...34,984,640
Ensembl chr 9:34,806,535...34,983,788 		JBrowse link
G BSG basigin disease_progression ISO RGD PMID:18223224 RGD:2296028 NCBI chr20:57,942,703...57,951,089
Ensembl chr20:57,943,276...57,951,061 		JBrowse link
G CASP3 caspase 3 ISO RGD PMID:18177927 RGD:2298948 NCBI chr16:45,920,074...45,940,507
Ensembl chr16:45,920,071...45,940,505 		JBrowse link
G CCNB1 cyclin B1 ISO mRNA, protein:increased expression:uterine cervix RGD PMID:16614707 RGD:2315938 NCBI chr 2:54,256,957...54,264,749 JBrowse link
G CD55 CD55 molecule ISO RGD PMID:9358772 RGD:2293549 NCBI chr 7:6,361,037...6,396,063
Ensembl chr 7:6,360,964...6,386,226 		JBrowse link
G CDC25A cell division cycle 25A ISO RGD PMID:18299147 RGD:2296067 NCBI chr20:40,823,683...40,849,113
Ensembl chr20:40,823,459...40,847,608 		JBrowse link
G CDC25C cell division cycle 25C ISO RGD PMID:15289842 RGD:4105450 NCBI chr11:25,904,152...25,940,754
Ensembl chr11:25,904,144...25,935,744 		JBrowse link
G CDH13 cadherin 13 ISO DNA:hypermethylation:promoter RGD PMID:17548682 RGD:2293543 NCBI chr 5:68,491,156...69,586,119
Ensembl chr 5:68,492,022...69,489,255 		JBrowse link
G CDK1 cyclin dependent kinase 1 ISO RGD PMID:18299147 RGD:2296067 NCBI chr 4:12,884,106...12,899,203
Ensembl chr 4:12,883,385...12,899,197 		JBrowse link
G DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 susceptibility ISO DNA:polymorphisms::HLA-DQB1*050201, DQB1*060101, DQB1*0602(human)
associated with Papillomavirus Infections;DNA:polymorphism: :HLA-DQB1 G > A (rs6457617)(human)		 RGD PMID:16425277 PMID:25893807 RGD:36174015 RGD:36174023 NCBI chr12:2,305,307...2,307,711 JBrowse link
G DLA88 MHC class I DLA-88 susceptibility ISO associated with Papillomavirus Infections;DNA:polymorphism: :HLA-B7 RGD PMID:12543794 RGD:2314696 NCBI chr12:892,442...895,691
Ensembl chr12:892,388...1,021,690 		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 chr13:10,081,700...10,099,737
Ensembl chr13:10,081,695...10,099,501 		JBrowse link
G ERBB4 erb-b2 receptor tyrosine kinase 4 ISO protein:increased expression: uterine cervix, cytoplasm RGD PMID:28042953 RGD:126790468 NCBI chr37:19,029,647...20,134,576
Ensembl chr37:19,037,217...20,134,426 		JBrowse link
G FANCA FA complementation group A no_association ISO DNA:SNPs, haplotypes: :[rs2239359, rs7190823, rs7195066 (human)
DNA:SNP: :rs11649196 (human)		 RGD PMID:19012493 PMID:21543111 RGD:11344886 RGD:11344901 NCBI chr 5:63,778,149...63,838,869
Ensembl chr 5:63,778,212...63,838,823 		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 chr 3:62,309,128...62,318,932
Ensembl chr 3:62,303,756...62,323,896 		JBrowse link
G HOXB13 homeobox B13 ISO mRNA:increased expression:uterine cervix RGD PMID:16803519 RGD:2314728 NCBI chr 9:24,958,020...24,961,353
Ensembl chr 9:24,959,183...24,961,588 		JBrowse link
G HSPA8 heat shock protein family A (Hsp70) member 8 ISO Protein: increased expression RGD PMID:21137014 RGD:6218976 NCBI chr 5:11,292,219...11,296,851
Ensembl chr 5:11,292,262...11,296,797 		JBrowse link
G IL10 interleukin 10 disease_progression ISO protein:increased expression:serum RGD PMID:9541628 RGD:2317658 NCBI chr 7:5,933,285...5,937,057
Ensembl chr 7:5,933,285...5,937,057 		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 chr17:37,019,329...37,033,388
Ensembl chr17:37,019,329...37,024,458 		JBrowse link
G KDM3A lysine demethylase 3A severity ISO human gene in a mouse model RGD PMID:23492365 RGD:9590219 NCBI chr17:38,690,962...38,744,507
Ensembl chr17:38,690,979...38,743,739 		JBrowse link
G KMT2A lysine methyltransferase 2A ISO human gene in a mouse model RGD PMID:22926525 RGD:9588221 NCBI chr 5:15,212,559...15,302,825
Ensembl chr 5:15,217,348...15,270,971 		JBrowse link
G KMT2E lysine methyltransferase 2E (inactive) ISO human gene in a mouse model RGD PMID:25172963 RGD:9588553 NCBI chr18:15,240,631...15,332,850
Ensembl chr18:15,239,994...15,332,828 		JBrowse link
G LOC475399 heterogeneous nuclear ribonucleoprotein C ISO protein:increased expression:cervical epithelium (human) RGD PMID:19319956 RGD:10054394 NCBI chr15:18,239,810...18,299,065 JBrowse link
G MACC1 MET transcriptional regulator MACC1 ISO mRNA:increased expression:cervical region (human) RGD PMID:33603486 RGD:152999025 NCBI chr14:34,189,983...34,271,998
Ensembl chr14:34,075,463...34,251,330 		JBrowse link
G MAP2K3 mitogen-activated protein kinase kinase 3 treatment ISO RGD PMID:20980434 RGD:7495806 NCBI chr 5:42,732,751...42,762,420
Ensembl chr 5:42,700,836...42,761,736 		JBrowse link
G MAP2K6 mitogen-activated protein kinase kinase 6 ISO RGD PMID:20980434 RGD:7495806 NCBI chr 9:15,840,714...15,962,400
Ensembl chr 9:15,840,983...15,952,026 		JBrowse link
G MDC1 mediator of DNA damage checkpoint 1 ISO mRNA, protein:increased expression:uterine cervix (human) RGD PMID:21853275 RGD:9589052 NCBI chr12:496,353...509,812
Ensembl chr12:496,878...507,442 		JBrowse link
G MED4 mediator complex subunit 4 severity ISO mRNA:decreased expression:uterine cervix (human) RGD PMID:19911042 RGD:12880436 NCBI chr22:3,396,276...3,411,037
Ensembl chr22:3,396,267...3,410,608 		JBrowse link
G MIR152 microRNA mir-152 ISO miRNA:decreased expression:uterine cervix RGD PMID:30131089 RGD:19165142 NCBI chr 9:24,335,161...24,335,219
Ensembl chr 9:24,335,146...24,335,225 		JBrowse link
G MIR21 microRNA mir-21 severity ISO RGD PMID:32256824 RGD:40925949 NCBI chr 9:34,340,550...34,340,609
Ensembl chr 9:34,340,533...34,340,624 		JBrowse link
G MIR432 microRNA mir-432 ISO mRNA:decreased expression:cervical region (human) RGD PMID:33603486 RGD:152999025 NCBI chr 8:69,106,415...69,106,501
Ensembl chr 8:69,106,415...69,106,501 		JBrowse link
G MMP1 matrix metallopeptidase 1 disease_progression ISO DNA:insertion:promoter:g.-1607insG (human) RGD PMID:14550952 RGD:7207024 NCBI chr 5:28,978,385...28,986,644
Ensembl chr 5:28,978,473...28,986,648 		JBrowse link
G MMP13 matrix metallopeptidase 13 ISO mRNA:increased expression:uterine cervix RGD PMID:17243165 RGD:2306082 NCBI chr 5:28,793,568...28,864,832
Ensembl chr 5:28,850,522...28,864,121 		JBrowse link
G MTHFR methylenetetrahydrofolate reductase susceptibility ISO DNA:missense mutation:cds:g.1298A>C (human) RGD PMID:27771518 RGD:38501051 NCBI chr 2:84,445,526...84,457,435
Ensembl chr 2:84,380,919...84,536,818 		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 chr34:10,989,857...10,999,232
Ensembl chr34:10,989,828...11,001,053 		JBrowse link
G NRAS NRAS proto-oncogene, GTPase ISO mRNA:increased expression:uterine cervix RGD PMID:14984964 RGD:2314838 NCBI chr17:52,411,733...52,418,788
Ensembl chr17:52,411,733...52,418,788 		JBrowse link
G PGM3 phosphoglucomutase 3 ISO RGD PMID:508567 RGD:2299870 NCBI chr12:43,582,472...43,611,583
Ensembl chr12:43,584,940...43,611,777 		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 chr 1:49,886,887...51,201,930
Ensembl chr 1:49,889,005...51,201,764 		JBrowse link
G PTK2 protein tyrosine kinase 2 disease_progression ISO RGD PMID:16638855 RGD:2292556 NCBI chr13:35,302,439...35,541,336
Ensembl chr13:35,303,380...35,541,294 		JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 ISO protein:increased expression:foreskin RGD PMID:18543080 RGD:39128248 NCBI chr26:9,989,218...10,072,245
Ensembl chr26:9,989,425...10,067,481 		JBrowse link
G PTPN6 protein tyrosine phosphatase non-receptor type 6 ISO protein:increased expression:foreskin RGD PMID:18543080 RGD:39128248 NCBI chr27:38,084,976...38,101,552
Ensembl chr27:38,084,980...38,101,937 		JBrowse link
G RASSF1 Ras association domain family member 1 ISO associated with Papillomavirus Infections;DNA:hypermethylation:promoter RGD PMID:18608185 RGD:2299861 NCBI chr20:39,014,639...39,023,393
Ensembl chr20:39,014,666...39,022,585 		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 chr17:59,208,989...59,214,643
Ensembl chr17:59,208,990...59,213,991 		JBrowse link
G SMAD2 SMAD family member 2 ISO DNA, mRNA:insertion, deletion, decreased expression:uterine cervix RGD PMID:12894231 RGD:2299968 NCBI chr 7:43,696,883...43,778,063
Ensembl chr 7:43,700,445...43,769,983 		JBrowse link
G SMAD4 SMAD family member 4 ISO mRNA:decreased expression:uterine cervix RGD PMID:12894231 RGD:2299968 NCBI chr 1:23,875,989...23,930,027
Ensembl chr 1:23,882,139...23,969,405 		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 chr17:31,007,940...31,181,569
Ensembl chr17:31,009,257...31,142,063 		JBrowse link
G SPAG5 sperm associated antigen 5 severity ISO mRNA, protein:increased expression:cervix (human) RGD PMID:35853859 RGD:155882439 NCBI chr 9:42,783,224...42,804,568
Ensembl chr 9:42,783,235...42,804,456 		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 chr12:2,424,049...2,432,165
Ensembl chr12:2,378,126...2,432,303 		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 chr12:2,407,512...2,417,469
Ensembl chr12:2,378,126...2,432,303 		JBrowse link
G TIMP4 TIMP metallopeptidase inhibitor 4 disease_progression ISO mRNA:increased expression:uterine cervix RGD PMID:15816637 RGD:2290434 NCBI chr20:6,399,522...6,405,089
Ensembl chr20:6,399,522...6,405,089 		JBrowse link
G TNF tumor necrosis factor susceptibility ISO DNA:polymorphism:promoter:-308G>A (human) RGD PMID:19823053 RGD:2315116 NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425 		JBrowse link
G TP53 tumor protein p53 ISO ClinVar Annotator: match by term: Cervix cancer ClinVar PMID:1349102 PMID:1849234 PMID:9407971 PMID:12826609 PMID:15982667 More... NCBI chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109 		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 chr 5:58,194,385...58,241,159
Ensembl chr 5:58,187,826...58,240,839 		JBrowse link
G XRCC1 X-ray repair cross complementing 1 ISO DNA:polymorphism: :p.R194W RGD PMID:18851872 RGD:2302567 NCBI chr 1:111,548,719...111,571,816
Ensembl chr 1:111,548,719...111,571,816 		JBrowse link
G ZFHX3 zinc finger homeobox 3 ISO mRNA:increased expression:uterine cervix RGD PMID:11812077 RGD:2315697 NCBI chr 5:78,450,963...78,635,615
Ensembl chr 5:78,455,005...78,610,033 		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 chr20:57,558,966...57,579,163
Ensembl chr20:57,559,424...57,579,118 		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 chr 7:42,762,021...42,785,192
Ensembl chr 7:42,748,136...42,782,999 		JBrowse link
G BAX BCL2 associated X, apoptosis regulator ISO protein:increased expression:uterine cervix RGD PMID:17694953 RGD:1643352 NCBI chr 1:107,423,388...107,426,464
Ensembl chr 1:107,422,424...107,426,464 		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 chr 5:29,294,080...29,314,837
Ensembl chr 5:29,294,692...29,312,771 		JBrowse link
G BRIP1 BRCA1 interacting helicase 1 severity ISO mRNA, protein:increased expression:uterine cervix, nucleus (human) RGD PMID:24708616 RGD:11252104 NCBI chr 9:34,804,285...34,984,640
Ensembl chr 9:34,806,535...34,983,788 		JBrowse link
G CCL22 C-C motif chemokine ligand 22 severity ISO RGD PMID:28086903 RGD:38455996 NCBI chr 2:59,039,650...59,045,519
Ensembl chr 2:59,040,539...59,045,625 		JBrowse link
G CCR4 C-C motif chemokine receptor 4 severity ISO RGD PMID:28086903 RGD:38455996 NCBI chr23:3,844,072...3,847,770
Ensembl chr23:3,844,173...3,845,255 		JBrowse link
G CD82 CD82 molecule ISO protein:decreased expression:uterine cervix RGD PMID:15642213 RGD:2289399 NCBI chr18:44,658,414...44,707,897
Ensembl chr18:44,659,180...44,706,768 		JBrowse link
G CSF1R colony stimulating factor 1 receptor ISO protein:increased expression:uterine cervix RGD PMID:18565574 RGD:2299119 NCBI chr 4:58,980,699...59,010,683
Ensembl chr 4:58,980,788...59,010,510 		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 chr30:15,555,016...15,608,230
Ensembl chr30:15,555,266...15,606,521 		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 chr 3:62,309,128...62,318,932
Ensembl chr 3:62,303,756...62,323,896 		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 chr 8:48,330,856...48,334,273
Ensembl chr 8:48,331,026...48,333,467 		JBrowse link
G FOSL1 FOS like 1, AP-1 transcription factor subunit ISO protein:decreased expression:uterine cervix RGD PMID:15514944 RGD:2293757 NCBI chr18:51,366,719...51,374,411
Ensembl chr18:51,368,352...51,373,748 		JBrowse link
G FOXP3 forkhead box P3 severity ISO RGD PMID:28086903 RGD:38455996 NCBI chr  X:42,331,229...42,362,841
Ensembl chr  X:42,344,108...42,350,758 		JBrowse link
G MIR21 microRNA mir-21 ISO RNA:increased expression:cervical cell RGD PMID:26010154 RGD:41404529 NCBI chr 9:34,340,550...34,340,609
Ensembl chr 9:34,340,533...34,340,624 		JBrowse link
G MIR31 microRNA mir-31 ISO RNA:increased expression:blood serum (human) RGD PMID:21658006 RGD:152998938 NCBI chr11:40,904,438...40,904,496
Ensembl chr11:40,904,437...40,904,503 		JBrowse link
G PDPN podoplanin disease_progression ISO RGD PMID:16528371 RGD:2292237 NCBI chr 2:83,552,735...83,581,375
Ensembl chr 2:83,552,830...83,581,375 		JBrowse link
G SMAD3 SMAD family member 3 severity ISO RGD PMID:28086903 RGD:38455996 NCBI chr30:31,246,313...31,360,098
Ensembl chr30:31,245,657...31,363,337 		JBrowse link
G TIMP2 TIMP metallopeptidase inhibitor 2 ISO protein:decreased expression:uterine cervix RGD PMID:16619570 RGD:2290402 NCBI chr 9:2,521,882...2,533,883
Ensembl chr 9:2,521,882...2,533,989 		JBrowse link
G TMBIM6 transmembrane BAX inhibitor motif containing 6 disease_progression ISO mRNA:increased expression:uterine cervix RGD PMID:15337562 RGD:2291959 NCBI chr27:4,921,606...4,944,830
Ensembl chr27:4,921,606...4,944,783 		JBrowse link
G TNFRSF4 TNF receptor superfamily member 4 severity ISO RGD PMID:28086903 RGD:38455996 NCBI chr 5:56,401,410...56,404,410
Ensembl chr 5:56,401,384...56,404,761 		JBrowse link
G TNFSF4 TNF superfamily member 4 severity ISO RGD PMID:28086903 RGD:38455996 NCBI chr 7:25,883,297...25,909,608
Ensembl chr 7:25,883,251...25,906,892 		JBrowse link
G TP53 tumor protein p53 disease_progression ISO RGD PMID:17969407 RGD:2298526 NCBI chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109 		JBrowse link
cervicitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MIR21 microRNA mir-21 ISO RNA:increased expression:cervical cell RGD PMID:26010154 RGD:41404529 NCBI chr 9:34,340,550...34,340,609
Ensembl chr 9:34,340,533...34,340,624 		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 chr15:17,786,808...17,789,422
Ensembl chr15:17,786,357...17,789,422 		JBrowse link
G BAG1 BAG cochaperone 1 ISO protein:increased expression:uterine cervix RGD PMID:10047462 RGD:2293889 NCBI chr11:50,348,833...50,363,532
Ensembl chr11:50,350,999...50,363,581 		JBrowse link
G BAK1 BCL2 antagonist/killer 1 ISO DNA:missense mutations:exon:multiple (human) RGD PMID:12771926 RGD:2315701 NCBI chr12:2,950,359...2,957,604
Ensembl chr12:2,948,364...2,957,018 		JBrowse link
G CCND3 cyclin D3 ISO RGD PMID:14751136 RGD:2316013 NCBI chr12:10,593,786...10,688,304
Ensembl chr12:10,594,712...10,600,891 		JBrowse link
G CD9 CD9 molecule disease_progression ISO RGD PMID:14695144 RGD:2326206 NCBI chr27:38,742,539...38,754,984
Ensembl chr27:38,742,963...38,774,576 		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 chr18:51,389,797...51,396,109
Ensembl chr18:51,389,824...51,396,107 		JBrowse link
G ERAP1 endoplasmic reticulum aminopeptidase 1 ISO DNA:SNPs (human) RGD PMID:19202550 RGD:2315691 NCBI chr 3:12,879,823...12,920,710
Ensembl chr 3:12,879,477...12,919,634 		JBrowse link
G FGFR3 fibroblast growth factor receptor 3 ISO 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
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		 RGD PMID:10471491 PMID:11114733 RGD:2289864 RGD:2289865 NCBI chr 3:62,309,128...62,318,932
Ensembl chr 3:62,303,756...62,323,896 		JBrowse link
G MGMT O-6-methylguanine-DNA methyltransferase ISO DNA:polymorphisms:cds:p.I143V, p.K178R (human) RGD PMID:17234722 RGD:2317690 NCBI chr28:38,204,611...38,427,482
Ensembl chr28:38,204,610...38,427,380 		JBrowse link
G PTGS1 prostaglandin-endoperoxide synthase 1 disease_progression ISO RGD PMID:16803521 RGD:2300207 NCBI chr 9:60,195,118...60,216,847
Ensembl chr 9:60,195,124...60,216,819 		JBrowse link
G PTK2 protein tyrosine kinase 2 ISO protein:increased tyrosine phosphorylation:cervix RGD PMID:14675348 RGD:2292568 NCBI chr13:35,302,439...35,541,336
Ensembl chr13:35,303,380...35,541,294 		JBrowse link
G SPARC secreted protein acidic and cysteine rich ISO DNA:hypermethylation RGD PMID:16434596 RGD:2300022 NCBI chr 4:57,659,541...57,682,147
Ensembl chr 4:57,659,650...57,681,711 		JBrowse link
G TAP2 transporter 2, ATP binding cassette subfamily B member susceptibility ISO DNA:SNP: :(rs4148876)(human) RGD PMID:17366619 RGD:6482264 NCBI chr12:2,407,512...2,417,469
Ensembl chr12:2,378,126...2,432,303 		JBrowse link
G TK1 thymidine kinase 1 ISO protein:increased expression:serum (human) RGD PMID:11474248 RGD:2317243 NCBI chr 9:2,959,450...2,970,908
Ensembl chr 9:2,959,488...2,971,064 		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 chr21:40,910,870...40,952,922
Ensembl chr21:40,910,874...40,952,808 		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 chr16:26,413,345...26,551,293
Ensembl chr16:26,414,583...26,551,122 		JBrowse link
G BCL2 BCL2 apoptosis regulator disease_progression ISO protein:increased expression:uterine cervix RGD PMID:18561741 RGD:2298889 NCBI chr 1:13,733,849...13,900,653
Ensembl chr 1:13,731,406...13,900,658 		JBrowse link
G BRCA1 BRCA1 DNA repair associated ISO DNA:deletions:exon RGD PMID:10442317 RGD:2298942 NCBI chr 9:19,958,941...20,025,494
Ensembl chr 9:19,958,391...20,025,494 		JBrowse link
G CADM1 cell adhesion molecule 1 severity ISO RGD PMID:17009984 RGD:2289089 NCBI chr 5:17,865,317...18,190,855
Ensembl chr 5:17,864,453...18,194,694 		JBrowse link
G CCND1 cyclin D1 ISO protein:increased expression:uterine cervix RGD PMID:18301453 RGD:2293574 NCBI chr18:48,501,905...48,509,684
Ensembl chr18:48,501,899...48,516,005 		JBrowse link
G CCNE1 cyclin E1 ISO protein:increased expression:uterine cervix RGD PMID:18301453 RGD:2293574 NCBI chr 1:121,688,622...121,697,533
Ensembl chr 1:121,688,796...121,697,649 		JBrowse link
G CCNG1 cyclin G1 ISO protein:increased expression:uterine cervix RGD PMID:16845792 RGD:2316022 NCBI chr 4:47,800,697...47,808,259
Ensembl chr 4:47,801,575...47,808,211 		JBrowse link
G CD274 CD274 molecule severity ISO associated with Papillomavirus Infections; protein:increased expression:dendritic cell RGD PMID:23521696 RGD:40822817 NCBI chr 1:93,461,735...93,605,772
Ensembl chr 1:93,585,518...93,603,522 		JBrowse link
G CDH1 cadherin 1 ISO DNA:hypermethylation:uterine cervix RGD PMID:17894941 RGD:2289490 NCBI chr 5:80,757,508...80,834,878
Ensembl chr 5:80,757,508...80,834,878 		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 chr10:1,812,864...1,815,815
Ensembl chr10:1,812,886...1,815,789 		JBrowse link
G CDKN1A cyclin dependent kinase inhibitor 1A ISO protein:increased expression:epithelial cell: RGD PMID:9546362 RGD:8662446 NCBI chr12:5,746,898...5,755,103
Ensembl chr12:5,745,852...5,892,281 		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 chr27:33,609,154...33,613,558
Ensembl chr27:33,611,760...33,612,906 		JBrowse link
G CDKN2A cyclin dependent kinase inhibitor 2A disease_progression ISO protein:increased expression
DNA:hypermethylation
protein:increased expression:uterine cervix		 RGD PMID:16406113 PMID:16778587 PMID:17415114 PMID:17910346 RGD:2289675 RGD:2289676 RGD:2296054 RGD:2296058 NCBI chr11:41,223,316...41,226,056
Ensembl chr11:41,223,315...41,264,379 		JBrowse link
G CDKN2B cyclin dependent kinase inhibitor 2B ISO protein:increased expression:uterine cervix RGD PMID:17632454 RGD:2289695 NCBI chr11:41,259,627...41,264,832 JBrowse link
G CSF1R colony stimulating factor 1 receptor disease_progression ISO protein:increased expression:uterine cervix RGD PMID:18565574 RGD:2299119 NCBI chr 4:58,980,699...59,010,683
Ensembl chr 4:58,980,788...59,010,510 		JBrowse link
G CTNNA1 catenin alpha 1 disease_progression ISO protein:decreased expression:uterine cervix RGD PMID:11161853 RGD:2289797 NCBI chr11:26,273,322...26,459,497
Ensembl chr11:26,143,013...26,459,091 		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 chr33:30,016,323...30,253,180
Ensembl chr33:30,016,600...30,253,547 		JBrowse link
G FASLG Fas ligand ISO associated with Papillomavirus Infections RGD PMID:17433060 RGD:2290052 NCBI chr 7:26,335,837...26,344,224
Ensembl chr 7:26,335,846...26,344,224 		JBrowse link
G HDAC1 histone deacetylase 1 ISO protein:increased expression:uterine cervix RGD PMID:19147762 RGD:2306200 NCBI chr 2:68,901,339...68,936,473
Ensembl chr 2:68,901,651...68,936,186 		JBrowse link
G HDAC2 histone deacetylase 2 ISO protein:increased expression:uterine cervix RGD PMID:19147762 RGD:2306200 NCBI chr12:70,053,822...70,083,491
Ensembl chr12:70,053,297...70,103,578 		JBrowse link
G HDAC6 histone deacetylase 6 ISO protein:increased expression:uterine cervix RGD PMID:19147762 RGD:2306200 NCBI chr  X:42,004,268...42,024,726
Ensembl chr  X:42,004,591...42,024,427 		JBrowse link
G HLA-DRB1 MHC class II DLA DRB1 beta chain ISO associated with Papillomavirus Infections RGD PMID:10073700 PMID:15458897 PMID:18351579 RGD:2306230 RGD:2306232 RGD:2314703 NCBI chr12:2,151,409...2,164,564 JBrowse link
G IGFBP3 insulin like growth factor binding protein 3 ISO mRNA:decreased expression:tumor:significant decrease in cancer relative to controls (P=0.03)
protein:decreased expression:serum:significantly decreased (p<0.0001), levels inversely associated with serum IGF-II levels (p<0.01)		 RGD PMID:14675666 PMID:17709267 RGD:2290004 RGD:2290021 NCBI chr16:1,021,855...1,027,604
Ensembl chr16:1,021,972...1,026,392 		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 chr17:37,019,329...37,033,388
Ensembl chr17:37,019,329...37,024,458 		JBrowse link
G LOC609365 CD46 molecule, complement regulatory protein-like ISO protein:increased expression:uterine cervix RGD PMID:9358772 RGD:2293549 NCBI chr 7:6,602,762...6,646,561 JBrowse link
G MGP matrix Gla protein ISO RGD PMID:17960611 RGD:2293584 NCBI chr27:31,735,301...31,738,673
Ensembl chr27:31,734,660...31,738,673 		JBrowse link
G MIR21 microRNA mir-21 ISO RNA:increased expression:cervical cell RGD PMID:26010154 RGD:41404529 NCBI chr 9:34,340,550...34,340,609
Ensembl chr 9:34,340,533...34,340,624 		JBrowse link
G MLH1 mutL homolog 1 ISO protein:increased expression:uterine cervix RGD PMID:15807307 RGD:2293515 NCBI chr23:6,889,108...6,938,117
Ensembl chr23:6,889,135...6,938,116 		JBrowse link
G MMP2 matrix metallopeptidase 2 disease_progression ISO protein:increased expression:uterine cervix RGD PMID:16619570 RGD:2290402 NCBI chr 2:60,471,092...60,492,991
Ensembl chr 2:60,471,257...60,494,113 		JBrowse link
G MSH2 mutS homolog 2 ISO protein:increased expression:uterine cervix RGD PMID:15807307 RGD:2293515 NCBI chr10:49,517,448...49,594,001
Ensembl chr10:49,517,369...49,594,210 		JBrowse link
G MTHFR methylenetetrahydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17303386 NCBI chr 2:84,445,526...84,457,435
Ensembl chr 2:84,380,919...84,536,818 		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 chr25:51,606,559...51,618,903
Ensembl chr25:51,608,173...51,618,723 		JBrowse link
G PHB1 prohibitin 1 ISO protein:increased expression:uterine cervix RGD PMID:16426920 RGD:2292398 NCBI chr 9:25,525,711...25,536,722
Ensembl chr 9:25,526,649...25,536,722 		JBrowse link
G POU4F1 POU class 4 homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20190800 NCBI chr22:31,992,657...31,997,066 JBrowse link
G PTEN phosphatase and tensin homolog ISO protein:decreased expression:uterine cervix RGD PMID:17672936 RGD:2298701 NCBI chr26:37,853,148...37,913,176
Ensembl chr26:37,835,661...37,913,176 		JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 disease_progression ISO protein:increased expression:uterine cervix, epithelial cell RGD PMID:18565574 RGD:2299119 NCBI chr 7:19,668,079...19,674,903
Ensembl chr 7:19,668,082...19,674,903 		JBrowse link
G RB1 RB transcriptional corepressor 1 ISO associated with Adenocarcinoma RGD PMID:18234283 RGD:2299896 NCBI chr22:3,061,621...3,204,625
Ensembl chr22:3,063,239...3,257,726 		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 chr18:51,550,003...51,558,861
Ensembl chr18:51,550,040...51,558,875 		JBrowse link
G SKP2 S-phase kinase associated protein 2 severity ISO associated with Papillomavirus Infections RGD PMID:19094580 RGD:2315036 NCBI chr 4:72,352,966...72,386,469
Ensembl chr 4:72,352,986...72,386,307 		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 chr 9:32,692,517...32,696,325
Ensembl chr 9:32,694,073...32,696,285 		JBrowse link
G STAT3 signal transducer and activator of transcription 3 disease_progression ISO protein:increased serine phosphorylation:cervix epithelium
protein:increased expression:nucleus		 RGD PMID:16005944 PMID:17110342 RGD:2291916 RGD:2298536 NCBI chr 9:20,539,660...20,614,631
Ensembl chr 9:20,539,697...20,612,672 		JBrowse link
G TERT telomerase reverse transcriptase disease_progression ISO protein:increased expression:uterine cervix RGD PMID:17644806 RGD:2291985 NCBI chr34:11,288,622...11,307,790
Ensembl chr34:11,288,622...11,307,951 		JBrowse link
G THRB thyroid hormone receptor beta ISO DNA:loss of heterozygosity (human) RGD PMID:11483913 RGD:2315099 NCBI chr23:19,278,650...19,648,547
Ensembl chr23:19,277,493...19,660,283 		JBrowse link
G TLR9 toll like receptor 9 disease_progression ISO protein:increased expression:tumor:expression increases with the histopathological grade (p<0.001) RGD PMID:17440926 RGD:2301099 NCBI chr20:37,529,322...37,547,117
Ensembl chr20:37,542,340...37,547,114
Ensembl chr20:37,542,340...37,547,114 		JBrowse link
G TOP2A DNA topoisomerase II alpha ISO RGD PMID:19051821 RGD:2315126 NCBI chr 9:22,207,501...22,237,497
Ensembl chr 9:22,207,638...22,237,496 		JBrowse link
G TP63 tumor protein p63 disease_progression ISO RGD PMID:16804722 RGD:2315435 NCBI chr34:21,766,861...21,985,095
Ensembl chr34:21,766,496...21,983,046 		JBrowse link
G TP73 tumor protein p73 disease_progression ISO mRNA:increased expression:uterine cervix RGD PMID:11870517 RGD:2290589 NCBI chr 5:58,194,385...58,241,159
Ensembl chr 5:58,187,826...58,240,839 		JBrowse link
G VEGFA vascular endothelial growth factor A ISO protein:increased expression:uterine cervix RGD PMID:19723043 RGD:2315456 NCBI chr12:12,209,032...12,224,978
Ensembl chr12:12,208,231...12,224,965 		JBrowse link
G XIAP X-linked inhibitor of apoptosis ISO protein:increased expression:uterine cervix RGD PMID:18325467 RGD:2315850 NCBI chr  X:95,300,234...95,356,103
Ensembl chr  X:95,331,827...95,351,582 		JBrowse link
chlamydia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B9D2 B9 domain containing 2 treatment ISO RGD PMID:30832593 RGD:38455984 NCBI chr 1:112,621,832...112,627,726
Ensembl chr 1:112,621,633...112,643,885 		JBrowse link
G CCR5 C-C motif chemokine receptor 5 ISO RGD PMID:16118671 RGD:8549760 NCBI chr20:42,293,288...42,297,952
Ensembl chr20:42,294,996...42,297,952 		JBrowse link
G CD40 CD40 molecule ISO RGD PMID:20102413 RGD:5132268 NCBI chr24:33,352,992...33,383,488
Ensembl chr24:33,372,930...33,383,301 		JBrowse link
G FOXP3 forkhead box P3 treatment ISO RGD PMID:30832593 RGD:38455984 NCBI chr  X:42,331,229...42,362,841
Ensembl chr  X:42,344,108...42,350,758 		JBrowse link
G ICAM1 intercellular adhesion molecule 1 ISO mRNA:increased expression:lung (mouse) RGD PMID:19728926 RGD:4145507 NCBI chr20:50,818,715...50,827,914
Ensembl chr20:50,818,715...50,827,914 		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 chr16:25,391,759...25,407,161
Ensembl chr16:25,391,754...25,407,048 		JBrowse link
G IFNG interferon gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:19203382 NCBI chr10:10,406,866...10,411,698
Ensembl chr10:10,406,867...10,411,698 		JBrowse link
G IL13 interleukin 13 ISO RGD PMID:21573182 RGD:5684365 NCBI chr11:20,957,870...20,961,391
Ensembl chr11:20,958,464...20,961,388 		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 chr12:19,854,129...19,862,521
Ensembl chr12:19,854,129...19,862,513 		JBrowse link
G MIR21 microRNA mir-21 ISO associated with asthma;RNA:increased expression:lung RGD PMID:27448447 RGD:41404696 NCBI chr 9:34,340,550...34,340,609
Ensembl chr 9:34,340,533...34,340,624 		JBrowse link
G TNF tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19203382 NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425 		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 chr 1:93,461,735...93,605,772
Ensembl chr 1:93,585,518...93,603,522 		JBrowse link
G PDCD1 programmed cell death 1 ISO mRNA:increased expression:lung RGD PMID:26378990 RGD:41412180 NCBI chr25:51,606,559...51,618,903
Ensembl chr25:51,608,173...51,618,723 		JBrowse link
G PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta severity ISO RGD PMID:29893841 RGD:40890270 NCBI chr 5:62,884,596...62,936,882
Ensembl chr 5:62,909,009...62,935,971 		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 chr12:1,574,251...1,577,410
Ensembl chr12:1,574,251...1,577,129 		JBrowse link
G B9D2 B9 domain containing 2 severity ISO protein:increased expression:amniotic fluid RGD PMID:19332995 RGD:4145137 NCBI chr 1:112,621,832...112,627,726
Ensembl chr 1:112,621,633...112,643,885 		JBrowse link
G FAS Fas cell surface death receptor ISO protein:increased expression:villous trophoblast RGD PMID:12700199 RGD:12904022 NCBI chr26:38,738,811...38,763,298
Ensembl chr26:38,737,611...38,763,321 		JBrowse link
G IL1A interleukin 1 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:21493953 NCBI chr17:36,969,581...36,979,445
Ensembl chr17:36,970,573...36,979,435 		JBrowse link
G IL6 interleukin 6 ISO associated with Premature Birth;protein:increased expression:tracheal aspirate fluid:
protein:increased expression:plasma
protein:increased expression: cervicovaginal fluid :		 RGD PMID:15547537 PMID:25011638 PMID:25687566 RGD:12791291 RGD:12792243 RGD:5128667 NCBI chr14:36,474,268...36,478,519
Ensembl chr14:36,473,394...36,478,519 		JBrowse link
G LTA lymphotoxin alpha severity ISO associated with Premature Birth;DNA:SNP:promoter:250G>A (human) RGD PMID:15128916 RGD:12904055 NCBI chr12:1,070,608...1,073,053
Ensembl chr12:1,071,192...1,073,067 		JBrowse link
G MBL1 mannose binding lectin 1 susceptibility ISO DNA:polymorphism:exon:p.G54D(human) RGD PMID:15723707 RGD:12910932 NCBI chr 4:29,419,886...29,424,377 JBrowse link
G MMP9 matrix metallopeptidase 9 severity ISO protein:increased expression:respiratory system fluid/secretion RGD PMID:12712078 RGD:13204828 NCBI chr24:33,274,260...33,281,116
Ensembl chr24:33,274,268...33,281,293 		JBrowse link
G TNF tumor necrosis factor severity
no_association		 ISO associated with Premature Birth;DNA:SNP:promoter:c.-238G>A (human)
associated with Premature Birth;DNA:SNP:promoter:c.-308 G>A (human)		 RGD PMID:15128916 RGD:12904055 NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425 		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 chr12:9,990,678...10,000,195
Ensembl chr12:9,990,679...10,000,236 		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 chr28:14,362,407...14,367,109
Ensembl chr28:14,362,109...14,367,468 		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 chr18:46,294,036...46,311,982
Ensembl chr18:46,294,019...46,311,982 		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 chr20:52,017,261...52,136,061
Ensembl chr20:52,021,887...52,136,046 		JBrowse link
G PDGFB platelet derived growth factor subunit B ISO mRNA:increased expression:mononuclear cytotrophoblast cell RGD PMID:8504434 RGD:2292200 NCBI chr10:25,798,877...25,819,422
Ensembl chr10:25,798,938...25,817,746 		JBrowse link
G PDGFRB platelet derived growth factor receptor beta ISO mRNA:increased expression:mononuclear cytotrophoblast cell RGD PMID:8504434 RGD:2292200 NCBI chr 4:58,925,922...58,963,639
Ensembl chr 4:58,926,351...58,962,283 		JBrowse link
G TIMP3 TIMP metallopeptidase inhibitor 3 ISO DNA, protein:hypermethylation, decreased expression:promoter, placenta RGD PMID:15507671 RGD:2290418 NCBI chr10:30,627,154...30,681,520
Ensembl chr10:30,627,154...30,694,288 		JBrowse link
chronic cervicitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IL32 interleukin 32 treatment ISO associated with papillomavirus infectious disease RGD PMID:29362599 RGD:150340753 NCBI chr 6:38,119,287...38,122,979 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 chr  X:14,996,196...15,131,338
Ensembl chr  X:14,994,625...15,131,844 		JBrowse link
G CFTR CF transmembrane conductance regulator ISO ClinVar Annotator: match by term: Congenital bilateral absence of the vas deferens ClinVar PMID:7539342 PMID:8530001 PMID:8662892 PMID:9239681 PMID:9598638 More... NCBI chr14:56,290,417...56,452,919
Ensembl chr14:56,290,275...56,453,977 		JBrowse link
congenital diaphragmatic hernia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACE angiotensin I converting enzyme ISO protein:increased activity:lung (rat) RGD PMID:9498404 RGD:12859277 NCBI chr 9:11,497,182...11,516,362
Ensembl chr 9:11,497,182...11,516,358 		JBrowse link
G AGTR2 angiotensin II receptor type 2 ISO RGD PMID:22113494 RGD:6903875 NCBI chr  X:88,703,551...88,708,451
Ensembl chr  X:88,705,765...88,706,853 		JBrowse link
G ATP7A ATPase copper transporting alpha ISO mRNA, protein:decreased expression:diaphragm (rat) RGD PMID:25319798 RGD:11341670 NCBI chr  X:60,203,336...60,356,525
Ensembl chr  X:60,203,270...60,352,869 		JBrowse link
G BMP4 bone morphogenetic protein 4 ISO mRNA:decreased expression:heart: RGD PMID:18280291 RGD:9068407 NCBI chr 8:29,997,563...30,254,307
Ensembl chr 8:29,997,569...30,004,557 		JBrowse link
G CAMK2A calcium/calmodulin dependent protein kinase II alpha ISO ClinVar Annotator: match by term: Agenesis of hemidiaphragm ClinVar PMID:29100089 PMID:29560374 NCBI chr 4:58,800,818...58,865,830
Ensembl chr 4:58,800,813...58,865,830 		JBrowse link
G CBL Cbl proto-oncogene ISO mRNA,protein:decreased expression, hypophosphorylation:lung, alveolar epithelium: RGD PMID:23143077 RGD:11038813 NCBI chr 5:14,600,409...14,676,974
Ensembl chr 5:14,607,013...14,676,956 		JBrowse link
G CCL2 C-C motif chemokine ligand 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30418988 NCBI chr 9:39,008,187...39,009,932 JBrowse link
G CCN2 cellular communication network factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20939759 PMID:21258935 NCBI chr 1:25,508,082...25,511,058
Ensembl chr 1:25,507,662...25,510,145 		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 chr37:25,933,525...25,939,910
Ensembl chr37:25,933,455...25,940,985 		JBrowse link
G ELN elastin ISO mRNA,protein:increased expression:lung: RGD PMID:12194112 RGD:9585688 NCBI chr 6:6,299,524...6,331,425
Ensembl chr 6:6,300,727...6,331,325 		JBrowse link
G EPO erythropoietin ISO CTD Direct Evidence: marker/mechanism CTD PMID:27880037 NCBI chr 6:8,994,211...8,995,954
Ensembl chr 6:8,994,211...8,996,144 		JBrowse link
G FBN1 fibrillin 1 ISO ClinVar Annotator: match by term: Congenital diaphragmatic hernia ClinVar PMID:23806086 PMID:24088041 PMID:25736269 NCBI chr30:14,640,973...14,864,151
Ensembl chr30:14,640,973...14,864,151 		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 chr 3:91,499,088...91,508,982 JBrowse link
G FOXC2 forkhead box C2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27663689 NCBI chr 5:66,234,336...66,296,007
Ensembl chr 5:66,294,176...66,295,693 		JBrowse link
G FOXF1 forkhead box F1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27663689 NCBI chr 5:66,343,776...66,347,785
Ensembl chr 5:66,345,150...66,347,935 		JBrowse link
G FRAS1 Fraser extracellular matrix complex subunit 1 ISO ClinVar Annotator: match by term: Congenital diaphragmatic hernia ClinVar PMID:25741868 PMID:28492532 NCBI chr32:2,558,442...2,993,199
Ensembl chr32:2,558,354...2,991,063 		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 chr11:35,174,390...35,338,983
Ensembl chr11:35,176,934...35,310,335 		JBrowse link
G FREM2 FRAS1 related extracellular matrix 2 ISO ClinVar Annotator: match by term: Congenital diaphragmatic hernia ClinVar PMID:25741868 PMID:28492532 PMID:30143558 NCBI chr25:2,097,264...2,264,049
Ensembl chr25:2,102,849...2,264,456 		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 chr25:26,126,172...26,211,474
Ensembl chr25:26,127,853...26,182,989 		JBrowse link
G GATA6 GATA binding protein 6 ISO mRNA:decreased expression:heart (rat) RGD PMID:18280291 RGD:9068407 NCBI chr 7:65,932,114...65,962,574 JBrowse link
G GLI3 GLI family zinc finger 3 ISO ClinVar Annotator: match by term: Congenital diaphragmatic hernia ClinVar NCBI chr18:7,800,817...8,071,531
Ensembl chr18:7,801,394...8,068,132 		JBrowse link
G IGF1 insulin like growth factor 1 ISO mRNA:decreased expression:heart (rat) RGD PMID:11409163 RGD:12904929 NCBI chr15:41,203,320...41,275,964
Ensembl chr15:41,202,518...41,275,794 		JBrowse link
G IGF1R insulin like growth factor 1 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20620343 PMID:21433279 NCBI chr 3:41,795,337...42,096,255
Ensembl chr 3:41,794,623...42,090,387 		JBrowse link
G IGF2 insulin like growth factor 2 treatment ISO RGD PMID:24352370 RGD:10402563 NCBI chr18:46,294,036...46,311,982
Ensembl chr18:46,294,019...46,311,982 		JBrowse link
G IGF2R insulin like growth factor 2 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20620343 PMID:21433279 NCBI chr 1:49,161,551...49,262,260
Ensembl chr 1:49,161,444...49,262,277 		JBrowse link
G IGFBP3 insulin like growth factor binding protein 3 ISO RGD PMID:19844724 RGD:10402761 NCBI chr16:1,021,855...1,027,604
Ensembl chr16:1,021,972...1,026,392 		JBrowse link
G IGFBP5 insulin like growth factor binding protein 5 ISO RGD PMID:19844724 RGD:10402761 NCBI chr37:23,575,265...23,596,970
Ensembl chr37:23,579,841...23,596,870 		JBrowse link
G INSR insulin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21433279 NCBI chr20:52,017,261...52,136,061
Ensembl chr20:52,021,887...52,136,046 		JBrowse link
G KCNQ5 potassium voltage-gated channel subfamily Q member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28189443 NCBI chr12:34,872,514...35,364,794
Ensembl chr12:34,872,581...35,362,349 		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 chr 3:52,630,059...52,649,164
Ensembl chr 3:52,630,494...52,649,231 		JBrowse link
G LCN2 lipocalin 2 ISO protein:decreased expression:amniotic fluid
mRNA:decreased expression:lung		 RGD PMID:27592368 RGD:126790533 NCBI chr 9:55,328,118...55,342,535
Ensembl chr 9:55,328,133...55,332,038 		JBrowse link
G LOC610540 pulmonary surfactant-associated protein A-like treatment ISO RGD PMID:11051153 RGD:151667435 NCBI chr 4:29,430,139...29,434,640 JBrowse link
G LRP1 LDL receptor related protein 1 ISO OMIM:142340 | OMIM:222400 | OMIM:610187 MouseDO NCBI chr10:1,260,256...1,341,705
Ensembl chr10:1,260,719...1,352,271 		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 chr26:30,501,793...30,519,698
Ensembl chr26:30,503,071...30,519,611 		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 chr14:55,599,047...55,711,626
Ensembl chr14:55,598,337...55,724,027 		JBrowse link
G MN1 MN1 proto-oncogene, transcriptional regulator ISO ClinVar Annotator: match by term: Agenesis of hemidiaphragm ClinVar PMID:25741868 PMID:31834374 NCBI chr26:21,216,912...21,261,518
Ensembl chr26:21,216,837...21,261,031 		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 chr 5:41,369,484...41,421,303
Ensembl chr 5:41,370,509...41,392,881 		JBrowse link
G MYOD1 myogenic differentiation 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21258934 NCBI chr21:40,257,792...40,260,461
Ensembl chr21:40,258,027...40,259,712 		JBrowse link
G MYRF myelin regulatory factor ISO DNA:mutations:multiple: RGD PMID:30532227 RGD:200226345 NCBI chr18:54,690,073...54,723,046
Ensembl chr18:54,692,453...54,723,085 		JBrowse link
G NDST1 N-deacetylase and N-sulfotransferase 1 ISO OMIM:142340 | OMIM:222400 | OMIM:610187 MouseDO NCBI chr 4:58,580,231...58,639,750
Ensembl chr 4:58,532,148...58,640,191 		JBrowse link
G NOS3 nitric oxide synthase 3 ISO protein:decreased expression:pulmonary artery (rat) RGD PMID:29216632 RGD:13504720 NCBI chr16:15,054,196...15,072,454
Ensembl chr16:15,011,344...15,072,277 		JBrowse link
G NR2F2 nuclear receptor subfamily 2 group F member 2 ISO OMIM:142340 | OMIM:222400 | OMIM:610187 MouseDO NCBI chr 3:44,135,143...44,148,836
Ensembl chr 3:44,136,463...44,148,524 		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 chr37:28,346,476...28,443,648
Ensembl chr37:28,346,563...28,444,561 		JBrowse link
G PDGFRA platelet derived growth factor receptor alpha ISO OMIM:142340 | OMIM:222400 | OMIM:610187 MouseDO NCBI chr13:46,729,722...46,775,828
Ensembl chr13:46,730,703...46,773,278 		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 chr 9:22,793,854...22,806,321
Ensembl chr 9:22,793,792...22,806,321 		JBrowse link
G PIM1 Pim-1 proto-oncogene, serine/threonine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:25812446 NCBI chr12:6,213,504...6,217,933
Ensembl chr12:6,211,867...6,217,933 		JBrowse link
G PLS3 plastin 3 ISO ClinVar Annotator: match by term: Congenital diaphragmatic hernia ClinVar NCBI chr  X:88,308,817...88,399,682
Ensembl chr  X:88,308,888...88,398,810 		JBrowse link
G RHOA ras homolog family member A ISO CTD Direct Evidence: marker/mechanism CTD PMID:25783350 NCBI chr20:39,824,552...39,888,089
Ensembl chr20:39,824,575...39,887,215 		JBrowse link
G ROBO4 roundabout guidance receptor 4 ISO ClinVar Annotator: match by term: Congenital diaphragmatic hernia ClinVar NCBI chr 5:9,546,830...9,561,342
Ensembl chr 5:9,547,047...9,561,702 		JBrowse link
G SFTPB surfactant protein B treatment ISO RGD PMID:11051153 RGD:151667435 NCBI chr17:39,419,305...39,428,513
Ensembl chr17:39,386,584...39,426,229 		JBrowse link
G SLIT2 slit guidance ligand 2 ISO mRNA:increased expression:lung RGD PMID:19944214 RGD:243048459 NCBI chr 3:88,964,707...89,311,817
Ensembl chr 3:88,966,232...89,312,955 		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 chr 4:42,506,680...43,099,053
Ensembl chr 4:42,508,426...43,094,714 		JBrowse link
G SOD1 superoxide dismutase 1 ISO mRNA:decreased expression:lung RGD PMID:26534761 RGD:11035301 NCBI chr31:26,540,291...26,544,212
Ensembl chr31:26,486,274...26,662,815 		JBrowse link
G SOD2 superoxide dismutase 2 ISO mRNA:decreased expression:lung RGD PMID:26534761 RGD:11035301 NCBI chr 1:48,943,472...48,955,158
Ensembl chr 1:48,836,262...48,955,706 		JBrowse link
G SOX7 SRY-box transcription factor 7 ISO OMIM:142340 | OMIM:222400 | OMIM:610187 MouseDO NCBI chr25:27,216,111...27,222,142
Ensembl chr25:27,215,528...27,220,227 		JBrowse link
G STAT3 signal transducer and activator of transcription 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25812446 NCBI chr 9:20,539,660...20,614,631
Ensembl chr 9:20,539,697...20,612,672 		JBrowse link
G TNF tumor necrosis factor ISO RGD PMID:10541330 RGD:12904053 NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425 		JBrowse link
G VEGFA vascular endothelial growth factor A ISO protein:decreased expression:lung: RGD PMID:15879288 RGD:7421593 NCBI chr12:12,209,032...12,224,978
Ensembl chr12:12,208,231...12,224,965 		JBrowse link
G WNT11 Wnt family member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25783350 NCBI chr21:22,442,496...22,463,040
Ensembl chr21:22,446,051...22,463,173 		JBrowse link
G WT1 WT1 transcription factor ISO CTD Direct Evidence: marker/mechanism
OMIM:142340 | OMIM:222400 | OMIM:610187		 CTD
MouseDO		 PMID:21072664 NCBI chr18:35,099,660...35,148,767
Ensembl chr18:35,103,934...35,148,000 		JBrowse link
G ZC3H7B zinc finger CCCH-type containing 7B ISO mRNA:decreased expression:lung RGD PMID:24488106 RGD:9588310 NCBI chr10:23,882,379...23,944,850
Ensembl chr10:23,884,981...23,920,131 		JBrowse link
G ZFPM2 zinc finger protein, FOG family member 2 ISO OMIM:142340 | OMIM:222400 | OMIM:610187 MouseDO NCBI chr13:6,435,368...6,796,903
Ensembl chr13:6,336,794...6,796,322 		JBrowse link
Coronary Artery Disease, Development of, in HIV term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCL2 C-C motif chemokine ligand 2 ISO ClinVar Annotator: match by term: Coronary artery disease, development of, in HIV ClinVar PMID:11500196 PMID:15466648 PMID:16352737 PMID:16596675 PMID:18940815 NCBI chr 9:39,008,187...39,009,932 JBrowse link
CRYPTOZOOSPERMIA