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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:Female Urogenital Diseases
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Accession:DOID:9002739 term browser browse the term
Definition:Pathological processes of the female URINARY TRACT and the reproductive system (GENITALIA, FEMALE).
Synonyms:exact_synonym: Female Genitourinary Disease;   Female Genitourinary Diseases;   Female Urogenital Disease
 primary_id: MESH:D052776;   RDO:0005654


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 chr10:80,641,074...80,643,513
Ensembl chr10:80,641,077...80,643,482 		JBrowse link
G Amhr2 anti-Mullerian hormone type 2 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:16002989 NCBI chr15:102,353,437...102,363,075
Ensembl chr15:102,353,802...102,363,068 		JBrowse link
G Bmpr1a bone morphogenetic protein receptor, type 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:16002989 NCBI chr14:34,133,018...34,225,335
Ensembl chr14:34,132,691...34,225,298 		JBrowse link
G Emx2 empty spiracles homeobox 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16002989 NCBI chr19:59,447,122...59,453,789
Ensembl chr19:59,446,804...59,453,789 		JBrowse link
G Esr1 estrogen receptor 1 (alpha) ISO CTD Direct Evidence: marker/mechanism CTD PMID:16002989 NCBI chr10:4,561,989...4,955,633
Ensembl chr10:4,561,593...4,955,614 		JBrowse link
G Hoxa10 homeobox A10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16002989 NCBI chr 6:52,208,177...52,217,658
Ensembl chr 6:52,208,177...52,217,834 		JBrowse link
G Hoxa11 homeobox A11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16002989 NCBI chr 6:52,219,086...52,222,784
Ensembl chr 6:52,219,086...52,222,790 		JBrowse link
G Hoxa13 homeobox A13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16002989 NCBI chr 6:52,235,833...52,237,865
Ensembl chr 6:52,234,674...52,237,788 		JBrowse link
G Igf1 insulin-like growth factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16002989 NCBI chr10:87,694,127...87,772,909
Ensembl chr10:87,694,127...87,772,904 		JBrowse link
G Lhx1 LIM homeobox protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16002989 NCBI chr11:84,408,801...84,416,360
Ensembl chr11:84,409,110...84,416,361 		JBrowse link
G Lif leukemia inhibitory factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:16002989 NCBI chr11:4,207,587...4,222,514
Ensembl chr11:4,207,557...4,222,514 		JBrowse link
G Msx2 msh homeobox 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16513791 NCBI chr13:53,620,917...53,626,816
Ensembl chr13:53,620,920...53,627,110 		JBrowse link
G Pax2 paired box 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16002989 NCBI chr19:44,735,040...44,826,708
Ensembl chr19:44,744,484...44,826,310 		JBrowse link
G Timp1 tissue inhibitor of metalloproteinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16002989 NCBI chr  X:20,736,405...20,740,976
Ensembl chr  X:20,736,405...20,740,974 		JBrowse link
G Trp63 transformation related protein 63 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16002989 NCBI chr16:25,502,513...25,710,838
Ensembl chr16:25,502,513...25,710,852 		JBrowse link
G Wnt4 wingless-type MMTV integration site family, member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16002989 NCBI chr 4:137,004,946...137,026,812
Ensembl chr 4:137,004,800...137,027,037 		JBrowse link
G Wnt5a wingless-type MMTV integration site family, member 5A ISO CTD Direct Evidence: marker/mechanism CTD PMID:16002989 NCBI chr14:28,224,962...28,249,405
Ensembl chr14:28,226,707...28,249,405 		JBrowse link
G Wnt7a wingless-type MMTV integration site family, member 7A ISO CTD Direct Evidence: marker/mechanism CTD PMID:16002989 NCBI chr 6:91,340,963...91,388,335
Ensembl chr 6:91,340,963...91,388,345 		JBrowse link
46 XX gonadal dysgenesis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fancl Fanconi anemia, complementation group L IAGP OMIM:233300 | OMIM:278850 | OMIM:300833 | OMIM:400045 | OMIM:611812 | OMIM:614324 MouseDO NCBI chr11:26,337,084...26,421,883
Ensembl chr11:26,336,135...26,421,876 		JBrowse link
G Fshr follicle stimulating hormone receptor ISO DNA:point mutation:exon:A189V
ClinVar Annotator: match by term: Ovarian dysgenesis		 ClinVar
RGD		 PMID:7553856 RGD:1601232 NCBI chr17:89,292,380...89,508,103
Ensembl chr17:89,292,380...89,508,103 		JBrowse link
G Mrps22 mitochondrial ribosomal protein S22 ISO ClinVar Annotator: match by term: 46 XX gonadal dysgenesis ClinVar PMID:28492532 PMID:29566152 NCBI chr 9:98,470,783...98,483,732
Ensembl chr 9:98,470,783...98,483,713 		JBrowse link
G Nr5a1 nuclear receptor subfamily 5, group A, member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19246354 NCBI chr 2:38,582,668...38,604,554
Ensembl chr 2:38,582,668...38,604,554 		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 of Chr Y ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: 46,XX sex reversal 1		 OMIM
CTD
ClinVar		 PMID:25741868 NCBI chr  Y:2,662,471...2,663,658
Ensembl chr  Y:2,662,471...2,663,658 		JBrowse link
46,XX sex reversal 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sox9 SRY (sex determining region Y)-box 9 ISO ClinVar Annotator: match by term: 46,XX sex reversal 2 ClinVar PMID:21208124 PMID:22051515 NCBI chr11:112,673,036...112,678,583
Ensembl chr11:112,673,050...112,678,586 		JBrowse link
acquired immunodeficiency syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb1a ATP-binding cassette, sub-family B member 1A treatment ISO DNA:haplotype: :3435T>C((rs1045642), 2677T>G (rs2032582) (human)
DNA:SNP: : rs10276036(human)		 RGD PMID:23372834 PMID:24517233 RGD:39456119, RGD:11098698 NCBI chr 5:8,617,091...8,798,575
Ensembl chr 5:8,710,077...8,798,575 		JBrowse link
G Bst2 bone marrow stromal cell antigen 2 ISO DNA:SNPs: : RGD PMID:26885809 RGD:14398494 NCBI chr 8:71,986,899...71,990,116
Ensembl chr 8:71,986,899...71,990,100 		JBrowse link
G Ccl4 C-C motif chemokine ligand 4 ISO DNA:SNP:3' utr:rs1719153 (human) RGD PMID:16773571 RGD:5683896 NCBI chr11:83,553,410...83,555,509
Ensembl chr11:83,553,410...83,555,509 		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 chr 9:123,921,557...123,934,153
Ensembl chr 9:123,921,580...123,947,736 		JBrowse link
G Cd209d CD209d antigen disease_progression ISO associated with factor VIII deficiency; DNA:SNP:promoter: g.-139C>T (rs2287886) (human) RGD PMID:17530998 RGD:39939010 NCBI chr 8:3,921,824...3,928,548
Ensembl chr 8:3,921,824...3,928,555 		JBrowse link
G Cd40lg CD40 ligand treatment IMP RGD PMID:9499800 RGD:11344976 NCBI chr  X:56,257,448...56,269,402
Ensembl chr  X:56,257,503...56,269,402 		JBrowse link
G Ercc2 excision repair cross-complementing rodent repair deficiency, complementation group 2 susceptibility ISO DNA:polymorphism:exon:p.K751Q(human) RGD PMID:20127180 RGD:5688740 NCBI chr 7:19,115,942...19,129,619
Ensembl chr 7:19,115,935...19,129,619 		JBrowse link
G H2-Q1 histocompatibility 2, Q region locus 1 susceptibility ISO DNA:polymorphism: :HLA-A31 RGD PMID:19030725 RGD:36049809 NCBI chr17:35,539,503...35,547,118
Ensembl chr17:35,539,381...35,544,075 		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 chr 8:25,074,148...25,086,987
Ensembl chr 8:25,074,152...25,087,025 		JBrowse link
G Ifna1 interferon alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9612607 NCBI chr 4:88,768,324...88,768,893
Ensembl chr 4:88,768,324...88,768,893 		JBrowse link
G Ifng interferon gamma ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Acquired immunodeficiency syndrome, rapid progression to		 CTD
ClinVar		 PMID:9612607 PMID:12854077 NCBI chr10:118,276,951...118,281,799
Ensembl chr10:118,276,951...118,281,797 		JBrowse link
G Igf2 insulin-like growth factor 2 ISO protein:decreased expression:plasma RGD PMID:11232005 RGD:5509969 NCBI chr 7:142,204,505...142,220,566
Ensembl chr 7:142,204,503...142,220,553 		JBrowse link
G Il2 interleukin 2 ISO CTD Direct Evidence: therapeutic CTD PMID:9861562 NCBI chr 3:37,174,862...37,180,103
Ensembl chr 3:37,174,672...37,180,108 		JBrowse link
G Il4ra interleukin 4 receptor, alpha 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 7:125,151,443...125,178,646
Ensembl chr 7:125,151,292...125,178,646 		JBrowse link
G Kir3dl1 killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 severity ISO DNA:missense mutation:cds: p.I47V (rs643347) (human) RGD PMID:29461980 RGD:38676267 NCBI chr  X:135,418,748...135,435,055
Ensembl chr  X:135,418,748...135,435,058 		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 7:4,340,714...4,348,183
Ensembl chr 7:4,340,723...4,348,163 		JBrowse link
G Ncr3-ps natural cytotoxicity triggering receptor 3, pseudogene ISO protein:decreased expression:peripheral blood mononuclear cell,natural killer cell (human) RGD PMID:27382604 RGD:40818276 NCBI chr17:35,399,512...35,403,785
Ensembl chr17:35,399,511...35,403,638 		JBrowse link
G Tnf tumor necrosis factor ISO RGD PMID:8548330 RGD:12904035 NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983 		JBrowse link
G Tnfrsf1a tumor necrosis factor receptor superfamily, member 1a ISO RGD PMID:8548330 RGD:12904035 NCBI chr 6:125,326,686...125,339,446
Ensembl chr 6:125,326,325...125,339,447 		JBrowse link
G Tnfrsf1b tumor necrosis factor receptor superfamily, member 1b ISO RGD PMID:8548330 RGD:12904035 NCBI chr 4:144,938,938...144,973,453
Ensembl chr 4:144,940,033...144,973,440 		JBrowse link
G Vdr vitamin D (1,25-dihydroxyvitamin D3) receptor ISO GAD PMID:15118671 RGD:1331525 NCBI chr15:97,752,308...97,806,177
Ensembl chr15:97,752,306...97,808,511 		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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:15805157 PMID:22374147 PMID:24129431 PMID:25741868 PMID:25758993 More... NCBI chr 3:141,540,230...141,875,335
Ensembl chr 3:141,542,897...141,875,186 		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 protein receptor severity
treatment		 ISO mRNA, protein:increased expression:endometrium RGD PMID:31596310 PMID:31596310 RGD:126925216, RGD:126925216 NCBI chr 5:76,093,487...76,139,880
Ensembl chr 5:76,093,487...76,139,118 		JBrowse link
G Vegfa vascular endothelial growth factor A ISO mRNA, protein:increased expression:endometrium RGD PMID:31596310 RGD:126925216 NCBI chr17:46,327,919...46,343,303
Ensembl chr17:46,327,919...46,343,295 		JBrowse link
AIDS Dementia Complex term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adrb2 adrenergic receptor, beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27400929 NCBI chr18:62,310,784...62,313,052
Ensembl chr18:62,310,887...62,313,030 		JBrowse link
G Epo erythropoietin treatment ISO RGD PMID:20818790 RGD:10395393 NCBI chr 5:137,481,282...137,484,078
Ensembl chr 5:137,481,282...137,531,504 		JBrowse link
G Gc vitamin D binding protein ISO associated with HIV Infections;protein:increased expression:cerebrospinal fluid: RGD PMID:17929958 RGD:5509882 NCBI chr 5:89,565,370...89,605,757
Ensembl chr 5:89,565,381...89,605,757 		JBrowse link
G Il1b interleukin 1 beta ISO protein:increased expression:neocortex RGD PMID:17678975 RGD:1626641 NCBI chr 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059 		JBrowse link
G Insr insulin receptor severity ISO protein:increased expression:cerebrospinal fluid, plasma RGD PMID:22629383 RGD:10403033 NCBI chr 8:3,200,922...3,329,649
Ensembl chr 8:3,172,061...3,329,617 		JBrowse link
G Irs1 insulin receptor substrate 1 severity ISO protein:decreased tyrosine phosphorylation:cerebrospinal fluid, leukocyte RGD PMID:22629383 RGD:10403033 NCBI chr 1:82,210,826...82,269,160
Ensembl chr 1:82,210,822...82,269,137 		JBrowse link
G Nefl neurofilament, light polypeptide ISO associated with HIV Seropositivity;protein:increased expression:plasma, CSF (human)
protein:increased expression:CSF (human)		 RGD PMID:30105502 PMID:27400930 RGD:127284876, RGD:127284885 NCBI chr14:68,321,312...68,326,544
Ensembl chr14:68,321,312...68,326,544 		JBrowse link
G Npy neuropeptide Y severity ISO protein:increased expression:cerebrospinal fluid RGD PMID:8815163 RGD:10431910 NCBI chr 6:49,799,690...49,806,487
Ensembl chr 6:49,799,690...49,806,487 		JBrowse link
G Oprm1 opioid receptor, mu 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27400929 NCBI chr10:6,708,593...6,988,209
Ensembl chr10:6,708,506...6,988,198 		JBrowse link
G Pdgfb platelet derived growth factor, B polypeptide ISO RGD PMID:21368226 RGD:6482787 NCBI chr15:79,880,066...79,899,178
Ensembl chr15:79,880,075...79,899,178 		JBrowse link
G Slc6a4 solute carrier family 6 (neurotransmitter transporter, serotonin), member 4 IMP RGD PMID:25404050 RGD:38676266 NCBI chr11:76,889,423...76,923,169
Ensembl chr11:76,889,429...76,923,166 		JBrowse link
AIDS-Associated Nephropathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agtr1a angiotensin II receptor, type 1a IMP RGD PMID:2 RGD:1303381 NCBI chr13:30,520,339...30,566,850
Ensembl chr13:30,520,424...30,566,850 		JBrowse link
G Agtr2 angiotensin II receptor, type 2 IDA RGD PMID:2 RGD:1303381 NCBI chr  X:21,350,863...21,355,072
Ensembl chr  X:21,350,783...21,355,403 		JBrowse link
G Egf epidermal growth factor ISO RGD PMID:19357719 RGD:6906909 NCBI chr 3:129,471,223...129,548,971
Ensembl chr 3:129,471,214...129,548,965 		JBrowse link
G Hp haptoglobin ISO protein:increased expression:urine RGD PMID:19279121 RGD:11041816 NCBI chr 8:110,301,760...110,305,804
Ensembl chr 8:110,301,760...110,305,804 		JBrowse link
G Mtor mechanistic target of rapamycin kinase IMP
ISO		 RGD PMID:23678040 PMID:23678040 RGD:7245474, RGD:7245474 NCBI chr 4:148,533,039...148,642,142
Ensembl chr 4:148,533,068...148,642,140 		JBrowse link
G Myh9 myosin, heavy polypeptide 9, non-muscle ISO protein:decreased expression:glomerulus RGD PMID:22313957 RGD:6903274 NCBI chr15:77,644,785...77,726,375
Ensembl chr15:77,644,787...77,726,375 		JBrowse link
G Notch4 notch 4 ISO protein: increased expression: kidney RGD PMID:20706108 PMID:20706108 RGD:6480788, RGD:6480788 NCBI chr17:34,783,257...34,807,517
Ensembl chr17:34,783,242...34,807,477 		JBrowse link
G Nphs1 nephrosis 1, nephrin treatment IEP RGD PMID:19188342 PMID:17229913 RGD:38596324, RGD:38599164 NCBI chr 7:30,157,259...30,188,048
Ensembl chr 7:30,157,740...30,186,648 		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 subfamily K, member 1 treatment ISO RGD PMID:23018378 RGD:39018554 NCBI chr 6:129,587,286...129,600,863
Ensembl chr 6:129,587,286...129,600,827 		JBrowse link
AIDS-Related Kaposi Sarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bcl2 B cell leukemia/lymphoma 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10861090 NCBI chr 1:106,465,906...106,642,020
Ensembl chr 1:106,465,908...106,642,004 		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 antigen ISO CTD Direct Evidence: marker/mechanism CTD PMID:9546790 NCBI chr 6:124,841,656...124,865,210
Ensembl chr 6:124,841,655...124,865,184 		JBrowse link
G Tnfrsf8 tumor necrosis factor receptor superfamily, member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9379333 NCBI chr 4:144,993,702...145,041,734
Ensembl chr 4:144,993,707...145,041,734 		JBrowse link
amenorrhea term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 3110040N11Rik RIKEN cDNA 3110040N11 gene ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 7:81,430,031...81,439,203
Ensembl chr 7:81,431,930...81,439,226 		JBrowse link
G Abhd2 abhydrolase domain containing 2 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 7:78,923,002...79,015,257
Ensembl chr 7:78,922,947...79,015,256 		JBrowse link
G Adamtsl3 ADAMTS-like 3 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 7:81,984,612...82,263,658
Ensembl chr 7:81,984,902...82,263,658 		JBrowse link
G Adarb2 adenosine deaminase, RNA-specific, B2 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr13:8,252,475...8,818,798
Ensembl chr13:8,252,902...8,818,783 		JBrowse link
G Ahctf1 AT hook containing transcription factor 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 1:179,572,469...179,631,580
Ensembl chr 1:179,572,459...179,631,245 		JBrowse link
G Amelx amelogenin, X-linked ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr  X:167,959,110...167,970,205
Ensembl chr  X:167,959,110...167,970,196 		JBrowse link
G Amfr autocrine motility factor receptor ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 8:94,698,216...94,739,301
Ensembl chr 8:94,698,216...94,739,470 		JBrowse link
G Ankrd24 ankyrin repeat domain 24 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr10:81,464,352...81,483,446
Ensembl chr10:81,464,374...81,483,444 		JBrowse link
G Ap3b2 adaptor-related protein complex 3, beta 2 subunit ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 7:81,110,147...81,143,722
Ensembl chr 7:81,110,147...81,143,673 		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 chr10:81,102,799...81,109,081
Ensembl chr10:81,102,794...81,109,080 		JBrowse link
G Apc APC, WNT signaling pathway regulator ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr18:34,353,350...34,455,243
Ensembl chr18:34,353,977...34,455,605 		JBrowse link
G Arhgap6 Rho GTPase activating protein 6 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr  X:167,578,091...168,087,436
Ensembl chr  X:167,578,095...168,087,431 		JBrowse link
G Arsa arylsulfatase A ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr15:89,356,679...89,361,627
Ensembl chr15:89,356,679...89,361,628 		JBrowse link
G Atcay ataxia, cerebellar, Cayman type ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr10:81,040,338...81,067,037
Ensembl chr10:81,040,342...81,066,667 		JBrowse link
G Atp10b ATPase, class V, type 10B ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr11:42,902,991...43,153,112
Ensembl chr11:43,040,704...43,153,112 		JBrowse link
G Aven apoptosis, caspase activation inhibitor ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 2:112,323,231...112,461,598
Ensembl chr 2:112,323,309...112,464,918 		JBrowse link
G Axl AXL receptor tyrosine kinase ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:25741868 PMID:28492532 PMID:32870266 NCBI chr 7:25,455,925...25,488,502
Ensembl chr 7:25,456,698...25,488,130 		JBrowse link
G Bcap29 B cell receptor associated protein 29 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr12:31,645,353...31,684,657
Ensembl chr12:31,640,966...31,684,657 		JBrowse link
G Bmp15 bone morphogenetic protein 15 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr  X:6,226,108...6,232,778
Ensembl chr  X:6,226,161...6,232,775 		JBrowse link
G Bmp4 bone morphogenetic protein 4 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr14:46,620,982...46,628,126
Ensembl chr14:46,620,977...46,628,126 		JBrowse link
G Bnc1 basonuclin zinc finger protein 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 7:81,616,401...81,642,047
Ensembl chr 7:81,616,401...81,642,055 		JBrowse link
G Btbd1 BTB domain containing 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 7:81,441,822...81,479,262
Ensembl chr 7:81,441,822...81,479,179 		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 chr 3:104,730,097...104,771,821
Ensembl chr 3:104,730,095...104,771,821 		JBrowse link
G Ccdc148 coiled-coil domain containing 148 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 2:58,701,637...58,991,167
Ensembl chr 2:58,711,082...58,991,027 		JBrowse link
G Ccser1 coiled-coil serine rich 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 6:61,156,942...62,359,847
Ensembl chr 6:61,157,308...62,359,849 		JBrowse link
G Cdk13 cyclin dependent kinase 13 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr13:17,885,309...17,979,960
Ensembl chr13:17,884,900...17,979,682 		JBrowse link
G Chaf1a chromatin assembly factor 1, subunit A ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr17:56,347,416...56,375,026
Ensembl chr17:56,347,439...56,379,289 		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 chr 4:8,690,345...8,868,449
Ensembl chr 4:8,690,406...8,867,659 		JBrowse link
G Cntln centlein, centrosomal protein ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 4:84,800,024...85,050,160
Ensembl chr 4:84,802,546...85,050,158 		JBrowse link
G Cpb2 carboxypeptidase B2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16167916 NCBI chr14:75,479,727...75,520,995
Ensembl chr14:75,479,727...75,520,995 		JBrowse link
G Cpeb1 cytoplasmic polyadenylation element binding protein 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 7:80,996,774...81,105,207
Ensembl chr 7:80,996,774...81,105,213 		JBrowse link
G Creb3l3 cAMP responsive element binding protein 3-like 3 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr10:80,920,163...80,934,706
Ensembl chr10:80,920,158...80,934,708 		JBrowse link
G Cyp17a1 cytochrome P450, family 17, subfamily a, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18645707 NCBI chr19:46,655,604...46,661,439
Ensembl chr19:46,655,604...46,661,611 		JBrowse link
G Cyp19a1 cytochrome P450, family 19, subfamily a, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8265607 NCBI chr 9:54,073,221...54,175,448
Ensembl chr 9:54,073,221...54,175,394 		JBrowse link
G Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 7:140,343,732...140,354,903
Ensembl chr 7:140,343,652...140,354,900 		JBrowse link
G Dapk3 death-associated protein kinase 3 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr10:81,018,821...81,029,031
Ensembl chr10:81,018,839...81,029,031 		JBrowse link
G Dcc deleted in colorectal carcinoma ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:24808016 PMID:32870266 NCBI chr18:71,386,703...72,484,299
Ensembl chr18:71,386,705...72,484,140 		JBrowse link
G Ddx1 DEAD box helicase 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr12:13,269,308...13,299,175
Ensembl chr12:13,266,974...13,299,214 		JBrowse link
G Dennd6a DENN domain containing 6A ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr14:26,295,013...26,355,477
Ensembl chr14:26,295,011...26,355,477 		JBrowse link
G Diaph2 diaphanous related formin 2 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr  X:128,650,409...129,366,583
Ensembl chr  X:128,650,491...129,366,583 		JBrowse link
G Dlc1 deleted in liver cancer 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 8:37,034,893...37,420,343
Ensembl chr 8:37,034,905...37,420,297 		JBrowse link
G Dmxl2 Dmx-like 2 ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:28492532 PMID:32870266 NCBI chr 9:54,272,442...54,409,150
Ensembl chr 9:54,272,442...54,408,910 		JBrowse link
G Dusp19 dual specificity phosphatase 19 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 2:80,447,558...80,462,005
Ensembl chr 2:80,447,389...80,462,705 		JBrowse link
G Dusp22 dual specificity phosphatase 22 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr13:30,844,042...30,895,215
Ensembl chr13:30,843,982...30,895,214 		JBrowse link
G Ebi3 Epstein-Barr virus induced gene 3 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr17:56,259,623...56,264,022
Ensembl chr17:56,259,640...56,264,022 		JBrowse link
G Eef2 eukaryotic translation elongation factor 2 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr10:81,012,465...81,018,343
Ensembl chr10:81,012,465...81,018,332 		JBrowse link
G Eri1 exoribonuclease 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 8:35,932,419...35,962,687
Ensembl chr 8:35,932,407...35,963,350 		JBrowse link
G Fam120b family with sequence similarity 120, member B ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr17:15,616,464...15,653,843
Ensembl chr17:15,616,464...15,653,845 		JBrowse link
G Fezf1 Fez family zinc finger 1 ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:32870266 NCBI chr 6:23,245,043...23,250,942
Ensembl chr 6:23,245,043...23,248,361 		JBrowse link
G Fgfr1 fibroblast growth factor receptor 1 ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:32870266 NCBI chr 8:26,008,808...26,067,819
Ensembl chr 8:26,003,670...26,065,734 		JBrowse link
G Fhit fragile histidine triad gene ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr14:11,307,679...12,919,681
Ensembl chr14:11,307,738...12,919,681 		JBrowse link
G Flrt3 fibronectin leucine rich transmembrane protein 3 ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:32870266 NCBI chr 2:140,500,118...140,513,396
Ensembl chr 2:140,492,834...140,513,389 		JBrowse link
G Fsd1 fibronectin type 3 and SPRY domain-containing protein ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr17:56,293,475...56,303,881
Ensembl chr17:56,293,509...56,303,881 		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 7:81,184,102...81,216,729
Ensembl chr 7:81,183,056...81,216,692 		JBrowse link
G Fshb follicle stimulating hormone beta ISO follicle-stimulating hormone deficiency,OMIM:229070;DNA:frameshift
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:8220432 PMID:8220432 RGD:1601221 NCBI chr 2:106,886,331...106,889,996
Ensembl chr 2:106,886,485...106,890,001 		JBrowse link
G Fshr follicle stimulating hormone receptor ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:25741868 NCBI chr17:89,292,380...89,508,103
Ensembl chr17:89,292,380...89,508,103 		JBrowse link
G Fzd6 frizzled class receptor 6 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr15:38,869,673...38,901,587
Ensembl chr15:38,869,429...38,901,583 		JBrowse link
G Gabrb2 gamma-aminobutyric acid type A receptor subunit beta 2 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr11:42,310,342...42,523,418
Ensembl chr11:42,310,584...42,519,855 		JBrowse link
G Gadl1 glutamate decarboxylase-like 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 9:115,713,739...115,905,244
Ensembl chr 9:115,713,947...115,905,243 		JBrowse link
G Gnrh1 gonadotropin releasing hormone 1 ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:32870266 NCBI chr14:67,982,717...67,986,889
Ensembl chr14:67,982,630...67,986,888 		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 chr 5:86,328,613...86,345,760
Ensembl chr 5:86,328,613...86,345,760 		JBrowse link
G Gpbp1l1 GC-rich promoter binding protein 1-like 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 4:116,414,357...116,451,099
Ensembl chr 4:116,414,855...116,451,079 		JBrowse link
G Gpr37l1 G protein-coupled receptor 37-like 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 1:135,087,988...135,095,419
Ensembl chr 1:135,087,972...135,095,419 		JBrowse link
G Gtf2h2 general transcription factor II H, polypeptide 2 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr13:100,596,726...100,629,123
Ensembl chr13:100,596,726...100,629,087 		JBrowse link
G Gxylt1 glucoside xylosyltransferase 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr15:93,137,611...93,173,060
Ensembl chr15:93,137,623...93,173,060 		JBrowse link
G Hesx1 homeobox gene expressed in ES cells ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:21325470 PMID:23465708 PMID:24703149 PMID:25741868 PMID:28492532 More... NCBI chr14:26,716,375...26,724,286
Ensembl chr14:26,716,373...26,724,286 		JBrowse link
G Homer2 homer scaffolding protein 2 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 7:81,250,229...81,356,673
Ensembl chr 7:81,250,229...81,357,275 		JBrowse link
G Ipp IAP promoted placental gene ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 4:116,364,710...116,400,607
Ensembl chr 4:116,364,746...116,395,440 		JBrowse link
G Kbtbd12 kelch repeat and BTB (POZ) domain containing 12 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 6:88,521,931...88,604,636
Ensembl chr 6:88,522,096...88,614,932 		JBrowse link
G Kl klotho ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:25741868 PMID:32870266 NCBI chr 5:150,876,072...150,917,282
Ensembl chr 5:150,876,072...150,917,282 		JBrowse link
G Klb klotho beta ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:32870266 NCBI chr 5:65,505,754...65,544,300
Ensembl chr 5:65,505,657...65,541,350 		JBrowse link
G Lhx3 LIM homeobox protein 3 ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:32870266 NCBI chr 2:26,090,224...26,098,261
Ensembl chr 2:26,090,224...26,098,301 		JBrowse link
G LOC106660621 Sox2 5' regulatory region ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:28492532 PMID:32870266 NCBI chr 3:34,700,079...34,704,381 JBrowse link
G LOC111162622 DeltaNp63 promoter of tumor protein p63 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr16:25,620,454...25,621,054 JBrowse link
G Lrg1 leucine-rich alpha-2-glycoprotein 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr17:56,426,678...56,428,946
Ensembl chr17:56,426,678...56,429,001 		JBrowse link
G Lrig2 leucine-rich repeats and immunoglobulin-like domains 2 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 3:104,361,296...104,419,251
Ensembl chr 3:104,303,734...104,419,234 		JBrowse link
G Macrod2 mono-ADP ribosylhydrolase 2 ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:32870266 NCBI chr 2:140,237,223...142,234,886
Ensembl chr 2:140,237,229...142,234,886 		JBrowse link
G Map2k2 mitogen-activated protein kinase kinase 2 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr10:80,941,749...80,960,531
Ensembl chr10:80,941,749...80,969,809 		JBrowse link
G Mast2 microtubule associated serine/threonine kinase 2 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 4:116,163,957...116,321,420
Ensembl chr 4:116,163,959...116,321,471 		JBrowse link
G Matk megakaryocyte-associated tyrosine kinase ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr10:81,088,769...81,098,819
Ensembl chr10:81,088,769...81,099,199 		JBrowse link
G Mgll monoglyceride lipase ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 6:88,701,397...88,805,342
Ensembl chr 6:88,701,394...88,805,342 		JBrowse link
G Mir1839 microRNA 1839 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 7:81,179,664...81,179,736
Ensembl chr 7:81,179,664...81,179,736 		JBrowse link
G Mov10 Mov10 RISC complex RNA helicase ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 3:104,702,144...104,725,935
Ensembl chr 3:104,702,152...104,725,879 		JBrowse link
G Mpnd MPN domain containing ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr17:56,316,201...56,323,790
Ensembl chr17:56,312,711...56,323,790 		JBrowse link
G Mrpl54 mitochondrial ribosomal protein L54 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr10:81,100,556...81,102,760
Ensembl chr10:81,100,547...81,102,768 		JBrowse link
G Msl3 MSL complex subunit 3 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr  X:167,434,263...167,456,868
Ensembl chr  X:167,437,113...167,456,894 		JBrowse link
G Mycn v-myc avian myelocytomatosis viral related oncogene, neuroblastoma derived ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr12:12,986,094...12,991,837
Ensembl chr12:12,986,094...12,991,915 		JBrowse link
G Naip2 NLR family, apoptosis inhibitory protein 2 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr13:100,280,571...100,338,630
Ensembl chr13:100,280,571...100,338,600 		JBrowse link
G Nbas neuroblastoma amplified sequence ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr12:13,319,102...13,687,381
Ensembl chr12:13,319,134...13,633,812 		JBrowse link
G Ncam2 neural cell adhesion molecule 2 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr16:80,997,501...81,425,549
Ensembl chr16:80,997,585...81,423,716 		JBrowse link
G Nckap5 NCK-associated protein 5 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 1:125,841,373...126,758,529
Ensembl chr 1:125,841,357...126,758,536 		JBrowse link
G Nkx2-6 NK2 homeobox 6 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr14:69,409,251...69,412,989
Ensembl chr14:69,409,251...69,412,967 		JBrowse link
G Nkx3-1 NK3 homeobox 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr14:69,428,141...69,432,107
Ensembl chr14:69,428,087...69,432,111 		JBrowse link
G Nmrk2 nicotinamide riboside kinase 2 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr10:81,034,004...81,037,871
Ensembl chr10:81,034,004...81,037,885 		JBrowse link
G Nup35 nucleoporin 35 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 2:80,469,156...80,490,415
Ensembl chr 2:80,447,580...80,489,250 		JBrowse link
G Ocln occludin ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr13:100,633,012...100,689,226
Ensembl chr13:100,633,015...100,689,226 		JBrowse link
G Or51ai2 olfactory receptor family 51 subfamily AI member 2 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 7:103,586,589...103,587,542
Ensembl chr 7:103,583,554...103,589,786 		JBrowse link
G Or51i1 olfactory receptor family 51 subfamily I member 1D ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 7:103,670,579...103,671,523
Ensembl chr 7:103,667,893...103,674,780 		JBrowse link
G Or51i2 olfactory receptor family 51 subfamily I member 2 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 7:103,689,005...103,689,943
Ensembl chr 7:103,684,652...103,691,279 		JBrowse link
G Otud4 OTU domain containing 4 ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:32870266 NCBI chr 8:80,366,305...80,404,384
Ensembl chr 8:80,366,247...80,404,353 		JBrowse link
G Pcsk5 proprotein convertase subtilisin/kexin type 5 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr19:17,409,678...17,815,076
Ensembl chr19:17,409,683...17,814,996 		JBrowse link
G Pias4 protein inhibitor of activated STAT 4 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr10:80,989,795...81,003,554
Ensembl chr10:80,989,100...81,003,757 		JBrowse link
G Plin4 perilipin 4 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr17:56,407,587...56,416,947
Ensembl chr17:56,407,591...56,416,803 		JBrowse link
G Plin5 perilipin 5 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr17:56,418,601...56,424,606
Ensembl chr17:56,418,601...56,424,596 		JBrowse link
G Pnpla6 patatin-like phospholipase domain containing 6 ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:28492532 PMID:32870266 NCBI chr 8:3,565,341...3,594,267
Ensembl chr 8:3,565,384...3,594,267 		JBrowse link
G Polr3b polymerase (RNA) III (DNA directed) polypeptide B ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:22855961 PMID:25133958 PMID:25741868 PMID:27029625 PMID:27512013 More... NCBI chr10:84,458,156...84,563,042
Ensembl chr10:84,458,156...84,563,042 		JBrowse link
G Por cytochrome p450 oxidoreductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:14758361 NCBI chr 5:135,698,894...135,764,180
Ensembl chr 5:135,698,887...135,764,180 		JBrowse link
G Ppm1j protein phosphatase 1J ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 3:104,688,322...104,693,334
Ensembl chr 3:104,688,372...104,693,334 		JBrowse link
G Prkaa1 protein kinase, AMP-activated, alpha 1 catalytic subunit ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr15:5,172,641...5,211,380
Ensembl chr15:5,173,343...5,211,380 		JBrowse link
G Prl prolactin ISO CTD Direct Evidence: marker/mechanism CTD PMID:6777091 NCBI chr13:27,241,553...27,249,187
Ensembl chr13:27,241,553...27,249,188 		JBrowse link
G Prok2 prokineticin 2 ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:32870266 NCBI chr 6:99,687,833...99,703,368
Ensembl chr 6:99,688,260...99,703,353 		JBrowse link
G Prokr2 prokineticin receptor 2 ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:17054399 PMID:18682503 PMID:18826963 PMID:20022991 PMID:22466334 More... NCBI chr 2:132,211,625...132,227,413
Ensembl chr 2:132,179,653...132,227,367 		JBrowse link
G Prop1 paired like homeodomain factor 1 ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:28492532 PMID:32870266 NCBI chr11:50,841,633...50,844,584
Ensembl chr11:50,841,633...50,844,592 		JBrowse link
G Psmb1 proteasome (prosome, macropain) subunit, beta type 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr17:15,695,983...15,718,538
Ensembl chr17:15,695,283...15,720,013 		JBrowse link
G Ptchd1 patched domain containing 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr  X:154,352,732...154,407,185
Ensembl chr  X:154,356,451...154,406,810 		JBrowse link
G Pudp pseudouridine 5'-phosphatase ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr18:50,700,727...50,701,770
Ensembl chr18:50,696,948...50,734,491 		JBrowse link
G Rab3gap1 RAB3 GTPase activating protein subunit 1 ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:32870266 NCBI chr 1:127,796,492...127,871,612
Ensembl chr 1:127,796,510...127,871,605 		JBrowse link
G Rab3gap2 RAB3 GTPase activating protein subunit 2 ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:25741868 PMID:28492532 PMID:32870266 NCBI chr 1:184,936,287...185,018,953
Ensembl chr 1:184,936,314...185,018,956 		JBrowse link
G Ramac RNA guanine-7 methyltransferase activating subunit ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 7:81,412,701...81,419,238
Ensembl chr 7:81,412,673...81,419,239 		JBrowse link
G Rhoc ras homolog family member C ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 3:104,696,350...104,701,775
Ensembl chr 3:104,695,691...104,701,775 		JBrowse link
G Rreb1 ras responsive element binding protein 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr13:37,962,362...38,135,981
Ensembl chr13:37,962,376...38,135,981 		JBrowse link
G Ryr3 ryanodine receptor 3 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 2:112,461,699...113,047,755
Ensembl chr 2:112,461,700...113,047,441 		JBrowse link
G Scart1 scavenger receptor family member expressed on T cells 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 7:139,777,131...139,811,058
Ensembl chr 7:139,798,180...139,811,058 		JBrowse link
G Sema3a sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:22927827 PMID:28492532 PMID:32870266 NCBI chr 5:13,174,789...13,653,453
Ensembl chr 5:13,175,381...13,652,533 		JBrowse link
G Sema3e sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:28492532 PMID:32870266 NCBI chr 5:14,075,290...14,306,703
Ensembl chr 5:14,075,290...14,306,703 		JBrowse link
G Sema6b sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr17:56,430,085...56,447,343
Ensembl chr17:56,430,085...56,447,343 		JBrowse link
G Serf1 small EDRK-rich factor 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr13:100,244,563...100,250,741
Ensembl chr13:100,244,520...100,251,079 		JBrowse link
G Sh3gl1 SH3-domain GRB2-like 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr17:56,323,750...56,343,659
Ensembl chr17:56,323,750...56,343,635 		JBrowse link
G Sh3gl3 SH3-domain GRB2-like 3 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 7:81,824,581...81,956,618
Ensembl chr 7:81,823,588...81,956,627 		JBrowse link
G Shank3 SH3 and multiple ankyrin repeat domains 3 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr15:89,376,929...89,444,464
Ensembl chr15:89,383,826...89,444,464 		JBrowse link
G Shd src homology 2 domain-containing transforming protein D ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr17:56,276,828...56,283,624
Ensembl chr17:56,277,467...56,283,625 		JBrowse link
G Sirt6 sirtuin 6 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr10:81,457,621...81,463,631
Ensembl chr10:81,457,619...81,463,631 		JBrowse link
G Slc16a1 solute carrier family 16 (monocarboxylic acid transporters), member 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 3:104,545,980...104,565,778
Ensembl chr 3:104,545,984...104,565,778 		JBrowse link
G Slc5a5 solute carrier family 5 (sodium iodide symporter), member 5 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 8:71,335,529...71,345,429
Ensembl chr 8:71,335,533...71,345,401 		JBrowse link
G Slmap sarcolemma associated protein ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr14:26,134,323...26,256,103
Ensembl chr14:26,134,323...26,256,086 		JBrowse link
G Smn1 survival motor neuron 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr13:100,259,713...100,274,206
Ensembl chr13:100,261,360...100,274,198 		JBrowse link
G Smyd3 SET and MYND domain containing 3 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 1:178,779,525...179,345,618
Ensembl chr 1:178,779,525...179,345,606 		JBrowse link
G Sox2 SRY (sex determining region Y)-box 2 ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:28492532 PMID:32870266 NCBI chr 3:34,704,144...34,706,610
Ensembl chr 3:34,704,554...34,706,610 		JBrowse link
G Sox2ot SOX2 overlapping transcript (non-protein coding) ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:28492532 PMID:32870266 NCBI chr 3:34,614,530...34,732,142
Ensembl chr 3:34,158,419...34,736,768 		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 chr18:38,719,300...38,734,400
Ensembl chr18:38,719,300...38,734,468 		JBrowse link
G Stap2 signal transducing adaptor family member 2 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr17:56,304,074...56,315,558
Ensembl chr17:56,304,077...56,312,584 		JBrowse link
G Sts steroid sulfatase ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr  X:168,856,332...169,015,037 JBrowse link
G Syce1 synaptonemal complex central element protein 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 7:140,357,142...140,367,767
Ensembl chr 7:140,357,142...140,367,765 		JBrowse link
G Tacr3 tachykinin receptor 3 ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:32870266 NCBI chr 3:134,534,768...134,640,342
Ensembl chr 3:134,534,768...134,640,340 		JBrowse link
G Tafa3 TAFA chemokine like family member 3 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 3:104,674,721...104,686,854
Ensembl chr 3:104,674,722...104,689,156 		JBrowse link
G Tas2r103 taste receptor, type 2, member 103 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 6:133,013,126...133,014,064
Ensembl chr 6:133,013,126...133,014,064 		JBrowse link
G Tbp TATA box binding protein ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr17:15,720,150...15,737,689
Ensembl chr17:15,720,150...15,748,641 		JBrowse link
G Tjp3 tight junction protein 3 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr10:81,109,022...81,127,415
Ensembl chr10:81,109,041...81,127,415 		JBrowse link
G Tm6sf1 transmembrane 6 superfamily member 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 7:81,507,810...81,533,827
Ensembl chr 7:81,508,749...81,534,182 		JBrowse link
G Tmem69 transmembrane protein 69 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 4:116,408,725...116,414,262
Ensembl chr 4:116,408,830...116,413,133 		JBrowse link
G Trp63 transformation related protein 63 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr16:25,502,513...25,710,838
Ensembl chr16:25,502,513...25,710,852 		JBrowse link
G Tshz2 teashirt zinc finger family member 2 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 2:169,474,430...169,914,671
Ensembl chr 2:169,474,933...169,913,736 		JBrowse link
G Ubxn6 UBX domain protein 6 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr17:56,374,045...56,386,333
Ensembl chr17:56,374,045...56,382,028 		JBrowse link
G Vldlr very low density lipoprotein receptor ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr19:27,190,070...27,231,631
Ensembl chr19:27,193,884...27,231,631 		JBrowse link
G Wdr11 WD repeat domain 11 ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:32870266 NCBI chr 7:129,193,373...129,237,462
Ensembl chr 7:129,193,587...129,237,462 		JBrowse link
G Wdr37 WD repeat domain 37 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr13:8,853,002...8,922,136
Ensembl chr13:8,853,004...8,921,945 		JBrowse link
G Wfdc17 WAP four-disulfide core domain 17 ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:27657687 PMID:28492532 PMID:32870266 NCBI chr11:83,594,882...83,597,095
Ensembl chr11:83,594,817...83,597,094 		JBrowse link
G Whamm WAS protein homolog associated with actin, golgi membranes and microtubules ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 7:81,220,403...81,246,585
Ensembl chr 7:81,221,014...81,246,584 		JBrowse link
G Xpo1 exportin 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr11:23,205,768...23,248,250
Ensembl chr11:23,206,041...23,248,249 		JBrowse link
G Yaf2 YY1 associated factor 2 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr15:93,181,714...93,234,816
Ensembl chr15:93,182,159...93,234,816 		JBrowse link
G Yju2 YJU2 splicing factor ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr17:56,266,187...56,274,951
Ensembl chr17:56,266,099...56,275,285 		JBrowse link
G Zbtb7a zinc finger and BTB domain containing 7a ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr10:80,971,113...80,988,056
Ensembl chr10:80,971,054...80,988,829 		JBrowse link
G Zfp217 zinc finger protein 217 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 2:169,950,563...169,993,598
Ensembl chr 2:169,950,563...169,990,023 		JBrowse link
G Zfp870 zinc finger protein 870 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr17:33,098,195...33,110,621
Ensembl chr17:33,098,193...33,110,616 		JBrowse link
G Zfr2 zinc finger RNA binding protein 2 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr10:81,068,967...81,087,957
Ensembl chr10:81,068,989...81,087,957 		JBrowse link
anogenital venereal wart term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccl20 C-C motif chemokine ligand 20 ISO protein:decreased expression:skin RGD PMID:17545018 RGD:7483603 NCBI chr 1:83,094,487...83,096,888
Ensembl chr 1:83,094,487...83,096,888 		JBrowse link
G Cd8a CD8 subunit alpha ISO mRNA:decreased expression:zone of skin (human) RGD PMID:25774455 RGD:36174028 NCBI chr 6:71,350,411...71,356,155
Ensembl chr 6:71,350,411...71,356,157 		JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 1:60,948,184...60,954,991
Ensembl chr 1:60,926,159...60,954,991 		JBrowse link
G Foxp3 forkhead box P3 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr  X:7,445,915...7,461,482
Ensembl chr  X:7,439,883...7,461,484 		JBrowse link
G Ifna16 interferon alpha 16 treatment ISO RGD PMID:25774455 RGD:36174028 NCBI chr 4:88,594,524...88,595,093
Ensembl chr 4:88,594,152...88,595,161 		JBrowse link
G Il10 interleukin 10 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 1:130,947,459...130,952,707
Ensembl chr 1:130,947,582...130,952,711 		JBrowse link
G Il12b interleukin 12b treatment ISO protein:decreased expression:peripheral blood mononuclear cells (human) RGD PMID:16114559 PMID:23754510 RGD:7829774, RGD:40400714 NCBI chr11:44,290,890...44,305,504
Ensembl chr11:44,290,890...44,304,860 		JBrowse link
G Il2 interleukin 2 ISO protein:decreased expression:peripheral blood mononuclear cells (human) RGD PMID:23754510 RGD:40400714 NCBI chr 3:37,174,862...37,180,103
Ensembl chr 3:37,174,672...37,180,108 		JBrowse link
G Il21 interleukin 21 ISO protein:decreased expression:blood serum (human) RGD PMID:31414711 RGD:127285371 NCBI chr 3:37,276,908...37,286,785
Ensembl chr 3:37,276,908...37,286,785 		JBrowse link
G Il4 interleukin 4 treatment ISO protein:increased expression:peripheral blood mononuclear cells (human) RGD PMID:16114559 PMID:23754510 RGD:7829774, RGD:40400714 NCBI chr11:53,503,287...53,509,492
Ensembl chr11:53,493,809...53,509,496 		JBrowse link
G Il6 interleukin 6 ISO protein:decreased expression:peripheral blood mononuclear cells (human) RGD PMID:23754510 RGD:40400714 NCBI chr 5:30,218,112...30,224,973
Ensembl chr 5:30,218,112...30,224,979 		JBrowse link
G Klrk1 killer cell lectin-like receptor subfamily K, member 1 ISO mRNA,protein:decreased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 6:129,587,286...129,600,863
Ensembl chr 6:129,587,286...129,600,827 		JBrowse link
G Mapk8 mitogen-activated protein kinase 8 treatment ISO mRNA:increased expression:zone of skin (human) RGD PMID:25774455 RGD:36174028 NCBI chr14:33,099,855...33,169,215
Ensembl chr14:33,099,855...33,169,115 		JBrowse link
G Myd88 myeloid differentiation primary response gene 88 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 9:119,165,000...119,169,084
Ensembl chr 9:119,165,000...119,170,477 		JBrowse link
G Ncr1 natural cytotoxicity triggering receptor 1 ISO mRNA,protein:decreased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 7:4,340,714...4,348,183
Ensembl chr 7:4,340,723...4,348,163 		JBrowse link
G Pdcd1 programmed cell death 1 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 1:93,966,027...93,980,278
Ensembl chr 1:93,966,027...93,980,278 		JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO protein:increased expression:foreskin RGD PMID:18543080 RGD:39128248 NCBI chr 5:121,268,596...121,329,460
Ensembl chr 5:121,268,596...121,329,460 		JBrowse link
G Ptpn6 protein tyrosine phosphatase, non-receptor type 6 ISO protein:increased expression:foreskin RGD PMID:18543080 RGD:39128248 NCBI chr 6:124,697,670...124,715,672
Ensembl chr 6:124,697,670...124,715,677 		JBrowse link
G Serpinf1 serine (or cysteine) peptidase inhibitor, clade F, member 1 disease_progression ISO mRNA, protein:decreased expression:skin of body (human) RGD PMID:23569025 RGD:27226706 NCBI chr11:75,300,855...75,313,449
Ensembl chr11:75,300,595...75,313,527 		JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 7:25,386,406...25,404,503
Ensembl chr 7:25,386,427...25,404,502 		JBrowse link
G Tlr2 toll-like receptor 2 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 3:83,743,579...83,749,045
Ensembl chr 3:83,743,579...83,749,074 		JBrowse link
G Tlr3 toll-like receptor 3 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 8:45,848,702...45,864,112
Ensembl chr 8:45,848,702...45,864,117 		JBrowse link
G Tlr4 toll-like receptor 4 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 4:66,745,788...66,765,338
Ensembl chr 4:66,745,821...66,848,521 		JBrowse link
G Tlr7 toll-like receptor 7 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr  X:166,086,376...166,113,570
Ensembl chr  X:166,087,925...166,113,554 		JBrowse link
G Tlr8 toll-like receptor 8 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr  X:166,024,119...166,047,325
Ensembl chr  X:166,025,692...166,047,325 		JBrowse link
G Tlr9 toll-like receptor 9 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 9:106,099,797...106,104,075
Ensembl chr 9:106,099,797...106,104,082 		JBrowse link
G Tnf tumor necrosis factor ISO protein:increased expression:peripheral blood mononuclear cells (human) RGD PMID:23754510 RGD:40400714 NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983 		JBrowse link
G Tnfrsf18 tumor necrosis factor receptor superfamily, member 18 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 4:156,110,779...156,113,351
Ensembl chr 4:156,110,621...156,113,352 		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 1:136,770,300...136,888,186
Ensembl chr 1:136,770,309...136,888,186 		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 (T-isoform) ISO OMIM NCBI chr  X:74,829,259...74,918,788
Ensembl chr  X:74,829,260...74,918,788 		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 chr19:8,814,831...8,826,047
Ensembl chr19:8,814,831...8,826,047 		JBrowse link
G Cfap251 cilia and flagella associated protein 251 ISO ClinVar Annotator: match by term: asthenozoospermia ClinVar PMID:30122541 NCBI chr 5:123,390,196...123,465,547
Ensembl chr 5:123,390,165...123,465,547 		JBrowse link
G Gstt1 glutathione S-transferase, theta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19303595 NCBI chr10:75,619,647...75,634,418
Ensembl chr10:75,619,647...75,634,418 		JBrowse link
G Plau plasminogen activator, urokinase ISO mRNA, protein:decreased expression:testes, epididymis (rat)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:18998460 PMID:18998460 RGD:7241809 NCBI chr14:20,886,730...20,893,456
Ensembl chr14:20,886,728...20,893,453 		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:159,173,315...159,281,072
Ensembl chr  X:159,173,686...159,281,066 		JBrowse link
G Cftr cystic fibrosis 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 chr 6:18,170,686...18,322,769
Ensembl chr 6:18,170,686...18,322,767 		JBrowse link
G LOC111674480 Cftr promoter region ISO ClinVar Annotator: match by term: Congenital bilateral aplasia of vas deferens from CFTR mutation ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:18,169,701...18,171,127 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 chr 3:127,460,367...127,574,195
Ensembl chr 3:127,463,959...127,574,176 		JBrowse link
G Ank2 ankyrin 2, brain ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr 3:126,715,256...127,293,996
Ensembl chr 3:126,715,261...127,292,999 		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 chr 3:127,600,656...127,631,148
Ensembl chr 3:127,600,656...127,631,172 		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 chr 3:127,663,337...127,689,972
Ensembl chr 3:127,662,707...127,689,973 		JBrowse link
G Foxc1 forkhead box C1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14630904 NCBI chr13:31,990,629...31,994,618
Ensembl chr13:31,990,616...31,996,459 		JBrowse link
G Larp7 La ribonucleoprotein 7, transcriptional regulator ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr 3:127,330,363...127,346,998
Ensembl chr 3:127,330,363...127,346,998 		JBrowse link
G Mir302a microRNA 302a ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr 3:127,339,145...127,339,213
Ensembl chr 3:127,339,145...127,339,213 		JBrowse link
G Mir302b microRNA 302b ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr 3:127,338,877...127,338,950
Ensembl chr 3:127,338,877...127,338,950 		JBrowse link
G Mir302c microRNA 302c ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr 3:127,339,012...127,339,079
Ensembl chr 3:127,339,012...127,339,079 		JBrowse link
G Mir302d microRNA 302d ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr 3:127,339,273...127,339,338
Ensembl chr 3:127,339,273...127,339,338 		JBrowse link
G Mir367 microRNA 367 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr 3:127,339,382...127,339,456
Ensembl chr 3:127,339,382...127,339,456 		JBrowse link
G Neurog2 neurogenin 2 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr 3:127,426,382...127,429,285
Ensembl chr 3:127,426,784...127,429,280 		JBrowse link
G Pax6 paired box 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14630904 NCBI chr 2:105,499,241...105,528,755
Ensembl chr 2:105,499,245...105,527,709 		JBrowse link
G Pitx2 paired-like homeodomain transcription factor 2 ISO
IAGP		 ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1
OMIM:180500
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:8944018 PMID:9536098 PMID:9685346 PMID:10051017 PMID:10490637 More... NCBI chr 3:128,993,527...129,013,243
Ensembl chr 3:128,993,527...129,013,240 		JBrowse link
G Prdm5 PR domain containing 5 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:26489929 NCBI chr 6:65,754,640...65,914,606
Ensembl chr 6:65,755,972...65,913,994 		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 chr 3:127,582,524...127,592,043
Ensembl chr 3:127,583,454...127,625,813 		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 chr 3:127,347,080...127,411,672
Ensembl chr 3:127,347,138...127,411,672 		JBrowse link
azoospermia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 4930447C04Rik RIKEN cDNA 4930447C04 gene ISO ClinVar Annotator: match by term: Azoospermia ClinVar PMID:33508233 NCBI chr12:72,926,967...72,964,742
Ensembl chr12:72,927,883...72,987,548 		JBrowse link
G Alb albumin ISO CTD Direct Evidence: therapeutic CTD PMID:27289041 NCBI chr 5:90,608,729...90,624,461
Ensembl chr 5:90,608,756...90,624,461 		JBrowse link
G Bcl2 B cell leukemia/lymphoma 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20610805 NCBI chr 1:106,465,906...106,642,020
Ensembl chr 1:106,465,908...106,642,004 		JBrowse link
G Bcl2l2 BCL2-like 2 IMP RGD PMID:9770502 RGD:14394611 NCBI chr14:55,120,900...55,125,691
Ensembl chr14:55,120,834...55,125,691
Ensembl chr14:55,120,834...55,125,691 		JBrowse link
G Brdt bromodomain, testis-specific susceptibility ISO protein:decreased expression:testis:
DNA:SNP: :rs3088232(human)		 RGD PMID:22035730 PMID:22016351 RGD:9586359, RGD:9586360 NCBI chr 5:107,478,982...107,534,927
Ensembl chr 5:107,479,025...107,534,924 		JBrowse link
G Bscl2 BSCL2 lipid droplet biogenesis associated, seipin ISO RGD PMID:25934999 RGD:11085488 NCBI chr19:8,814,831...8,826,047
Ensembl chr19:8,814,831...8,826,047 		JBrowse link
G Cftr cystic fibrosis transmembrane conductance regulator ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Obstructive azoospermia		 CTD
ClinVar		 PMID:1283148 PMID:1284534 PMID:1284535 PMID:1284639 PMID:1370875 More... NCBI chr 6:18,170,686...18,322,769
Ensembl chr 6:18,170,686...18,322,767 		JBrowse link
G Ddx25 DEAD box helicase 25 ISO ClinVar Annotator: match by term: Azoospermia ClinVar NCBI chr 9:35,453,144...35,469,766
Ensembl chr 9:35,447,943...35,469,824 		JBrowse link
G Dmc1 DNA meiotic recombinase 1 ISO ClinVar Annotator: match by term: Azoospermia ClinVar NCBI chr15:79,445,698...79,489,362
Ensembl chr15:79,445,698...79,489,310 		JBrowse link
G Epas1 endothelial PAS domain protein 1 IMP RGD PMID:14608355 RGD:734934 NCBI chr17:87,061,292...87,140,838
Ensembl chr17:87,061,128...87,140,838 		JBrowse link
G Ercc1 excision repair cross-complementing rodent repair deficiency, complementation group 1 susceptibility ISO DNA:snp:3' utr:c.8092C>A (human) RGD PMID:18616887 RGD:13207429 NCBI chr 7:19,079,016...19,090,449
Ensembl chr 7:19,078,703...19,090,449 		JBrowse link
G Fahd1 fumarylacetoacetate hydrolase domain containing 1 ISO ClinVar Annotator: match by term: Azoospermia ClinVar NCBI chr17:25,067,870...25,069,276
Ensembl chr17:25,067,866...25,069,338 		JBrowse link
G Fancm Fanconi anemia, complementation group M ISO ClinVar Annotator: match by term: Azoospermia ClinVar PMID:17289582 PMID:18174376 PMID:19379763 PMID:23932590 PMID:24003026 More... NCBI chr12:65,120,884...65,178,616
Ensembl chr12:65,122,377...65,178,832 		JBrowse link
G Gopc golgi associated PDZ and coiled-coil motif containing IAGP 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 chr10:52,213,120...52,258,220
Ensembl chr10:52,211,946...52,258,220 		JBrowse link
G Henmt1 HEN1 methyltransferase homolog 1 (Arabidopsis) ISO ClinVar Annotator: match by term: Azoospermia ClinVar NCBI chr 3:108,846,770...108,887,201
Ensembl chr 3:108,847,375...108,868,090 		JBrowse link
G Hfm1 HFM1, ATP-dependent DNA helicase homolog ISO ClinVar Annotator: match by term: Azoospermia ClinVar NCBI chr 5:106,988,059...107,074,427
Ensembl chr 5:106,988,058...107,074,187 		JBrowse link
G Hsd17b10 hydroxysteroid (17-beta) dehydrogenase 10 IEP mRNA:increased expression:testis RGD PMID:9851691 RGD:13792783 NCBI chr  X:150,784,892...150,787,438
Ensembl chr  X:150,784,841...150,787,438 		JBrowse link
G Kash5 KASH domain containing 5 ISO ClinVar Annotator: match by term: Azoospermia ClinVar NCBI chr 7:44,833,043...44,854,344
Ensembl chr 7:44,833,048...44,854,316 		JBrowse link
G Mcm8 minichromosome maintenance 8 homologous recombination repair factor ISO ClinVar Annotator: match by term: Azoospermia ClinVar NCBI chr 2:132,658,061...132,686,117
Ensembl chr 2:132,658,061...132,686,117 		JBrowse link
G Mcmdc2 minichromosome maintenance domain containing 2 ISO ClinVar Annotator: match by term: Azoospermia ClinVar NCBI chr 1:9,978,863...10,011,179
Ensembl chr 1:9,978,863...10,012,310 		JBrowse link
G Meiob meiosis specific with OB domains ISO ClinVar Annotator: match by term: Azoospermia ClinVar NCBI chr17:25,023,275...25,058,762
Ensembl chr17:25,023,263...25,058,762 		JBrowse link
G Mov10l1 Mov10 like RISC complex RNA helicase 1 ISO ClinVar Annotator: match by term: Azoospermia ClinVar NCBI chr15:88,867,094...88,939,355
Ensembl chr15:88,867,112...88,939,355 		JBrowse link
G Msh5 mutS homolog 5 ISO ClinVar Annotator: match by term: Azoospermia ClinVar NCBI chr17:35,247,581...35,267,842
Ensembl chr17:35,247,581...35,265,721 		JBrowse link
G Pdha2 pyruvate dehydrogenase E1 alpha 2 ISO ClinVar Annotator: match by term: Azoospermia ClinVar PMID:29581481 PMID:35172124 NCBI chr 3:140,915,765...140,918,116
Ensembl chr 3:140,915,765...140,918,116 		JBrowse link
G Rec8 REC8 meiotic recombination protein ISO ClinVar Annotator: match by term: Azoospermia ClinVar NCBI chr14:55,855,459...55,862,852
Ensembl chr14:55,855,494...55,862,852 		JBrowse link
G Sycp3 synaptonemal complex protein 3 ISO
IAGP		 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 chr10:88,295,449...88,309,098
Ensembl chr10:88,295,431...88,309,098 		JBrowse link
G Tdrd9 tudor domain containing 9 ISO ClinVar Annotator: match by term: Azoospermia ClinVar NCBI chr12:111,937,922...112,035,288
Ensembl chr12:111,937,993...112,035,288 		JBrowse link
G Tdrkh tudor and KH domain containing protein ISO ClinVar Annotator: match by term: Azoospermia ClinVar NCBI chr 3:94,320,551...94,342,161
Ensembl chr 3:94,320,580...94,341,975 		JBrowse link
G Terb1 telomere repeat binding bouquet formation protein 1 ISO ClinVar Annotator: match by term: Azoospermia ClinVar NCBI chr 8:105,173,350...105,236,692
Ensembl chr 8:105,173,351...105,236,542 		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 ClinVar
OMIM		 PMID:31320686 NCBI chr  X:138,701,552...138,712,135
Ensembl chr  X:138,701,577...138,712,135 		JBrowse link
bacterial vaginosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mbl2 mannose-binding lectin (protein C) 2 ISO DNA:SNP:cds: RGD PMID:17470593 RGD:8693700 NCBI chr19:30,210,306...30,217,087
Ensembl chr19:30,210,342...30,217,087 		JBrowse link
Blepharophimosis Syndrome Type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxl2 forkhead box L2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE I		 CTD
ClinVar		 PMID:11175783 PMID:11468277 PMID:11776388 PMID:12400065 PMID:12529855 More... NCBI chr 9:98,837,660...98,840,179
Ensembl chr 9:98,837,341...98,840,596 		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 9:7,818,227...7,837,123
Ensembl chr 9:7,818,228...7,837,065 		JBrowse link
G Birc3 baculoviral IAP repeat-containing 3 ISO mRNA:increased expression:perianal skin (human) RGD PMID:20346172 RGD:152998971 NCBI chr 9:7,848,698...7,873,199
Ensembl chr 9:7,848,700...7,873,187 		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 chr 3:101,993,731...102,053,830
Ensembl chr 3:101,993,731...102,053,830 		JBrowse link
G Cdx2 caudal type homeobox 2 ISO ClinVar Annotator: match by term: Sirenomelia ClinVar PMID:25741868 NCBI chr 5:147,237,710...147,244,059
Ensembl chr 5:147,237,615...147,244,080 		JBrowse link
G Pcsk5 proprotein convertase subtilisin/kexin type 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18519639 NCBI chr19:17,409,678...17,815,076
Ensembl chr19:17,409,683...17,814,996 		JBrowse link
G Ryr1 ryanodine receptor 1, skeletal muscle ISO ClinVar Annotator: match by term: Agenesis of sacrum ClinVar PMID:18564 PMID:9497245 PMID:10484775 PMID:11575529 PMID:12059893 More... NCBI chr 7:28,702,765...28,824,599
Ensembl chr 7:28,702,769...28,824,604 		JBrowse link
G Vangl1 VANGL planar cell polarity 1 susceptibility ISO ClinVar Annotator: match by term: Caudal regression sequence | ClinVar Annotator: match by term: Sacral defect with anterior meningocele
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 PMID:17409324 PMID:19319979 PMID:22892949 PMID:24033266 PMID:24307374 More... NCBI chr 3:102,060,899...102,112,012
Ensembl chr 3:102,060,899...102,112,009 		JBrowse link
G Zbtb16 zinc finger and BTB domain containing 16 ISO RGD PMID:27727328 RGD:40924666 NCBI chr 9:48,563,097...48,747,525
Ensembl chr 9:48,565,597...48,747,522 		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 chr18:43,861,134...43,870,302
Ensembl chr18:43,861,147...43,870,622 		JBrowse link
G Tff1 trefoil factor 1 ISO mRNA, protein:increased expression:uterine cervix RGD PMID:10727981 RGD:2298570 NCBI chr17:31,380,369...31,384,034
Ensembl chr17:31,380,369...31,384,251 		JBrowse link
G Tfrc transferrin receptor ISO protein:increased expression:uterine cervix RGD PMID:9739406 RGD:2292022 NCBI chr16:32,427,714...32,451,612
Ensembl chr16:32,427,738...32,451,612 		JBrowse link
G Trp53 transformation related protein 53 disease_progression ISO RGD PMID:17354237 RGD:2298527 NCBI chr11:69,471,174...69,482,699
Ensembl chr11:69,471,185...69,482,699 		JBrowse link
cervical cancer term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ang angiogenin, ribonuclease, RNase A family, 5 ISO protein:increased expression:serum RGD PMID:11299848 RGD:2325708 NCBI chr14:51,328,607...51,339,462
Ensembl chr14:51,328,607...51,339,466 		JBrowse link
G Apex1 apurinic/apyrimidinic endonuclease 1 ISO DNA:polymorphism: :p.D148E (human) RGD PMID:19292061 PMID:18503157 RGD:2315657, RGD:2315662 NCBI chr14:51,162,406...51,164,645
Ensembl chr14:51,162,425...51,164,596 		JBrowse link
G Api5 apoptosis inhibitor 5 disease_progression ISO mRNA:increased expression RGD PMID:10780674 RGD:1643340 NCBI chr 2:94,242,073...94,268,490
Ensembl chr 2:94,242,027...94,268,481 		JBrowse link
G Bcl2l1 BCL2-like 1 ISO protein:increased expression:uterine cervix RGD PMID:17311011 RGD:1643476 NCBI chr 2:152,600,652...152,673,632
Ensembl chr 2:152,622,588...152,673,648 		JBrowse link
G Birc2 baculoviral IAP repeat-containing 2 ISO mRNA:decreased expression:uterine cervix RGD PMID:16504151 RGD:1643527 NCBI chr 9:7,818,227...7,837,123
Ensembl chr 9:7,818,228...7,837,065 		JBrowse link
G Brca1 breast cancer 1, early onset disease_progression ISO DNA:hypermethylation:promoter RGD PMID:12773202 RGD:2298941 NCBI chr11:101,379,587...101,442,808
Ensembl chr11:101,379,590...101,442,781 		JBrowse link
G Brip1 BRCA1 interacting protein C-terminal helicase 1 ISO ClinVar Annotator: match by term: Cervical cancer ClinVar PMID:18483852 PMID:25741868 PMID:26467025 PMID:26790966 PMID:28492532 More... NCBI chr11:85,948,957...86,092,041
Ensembl chr11:85,948,964...86,092,019 		JBrowse link
G Bsg basigin disease_progression ISO RGD PMID:18223224 RGD:2296028 NCBI chr10:79,540,192...79,547,813
Ensembl chr10:79,540,325...79,547,803 		JBrowse link
G Casp3 caspase 3 ISO RGD PMID:18177927 RGD:2298948 NCBI chr 8:47,070,326...47,092,733
Ensembl chr 8:47,070,326...47,092,724 		JBrowse link
G Ccnb1 cyclin B1 ISO mRNA, protein:increased expression:uterine cervix RGD PMID:16614707 RGD:2315938 NCBI chr13:100,915,247...100,922,994
Ensembl chr13:100,915,158...100,923,078 		JBrowse link
G Cd55 CD55 molecule, decay accelerating factor for complement ISO RGD PMID:9358772 RGD:2293549 NCBI chr 1:130,357,526...130,390,513
Ensembl chr 1:130,366,764...130,390,481 		JBrowse link
G Cdc25a cell division cycle 25A ISO RGD PMID:18299147 RGD:2296067 NCBI chr 9:109,704,545...109,722,963
Ensembl chr 9:109,704,647...109,722,963 		JBrowse link
G Cdc25c cell division cycle 25C ISO RGD PMID:15289842 RGD:4105450 NCBI chr18:34,866,046...34,884,644
Ensembl chr18:34,866,046...34,884,586 		JBrowse link
G Cdh13 cadherin 13 ISO DNA:hypermethylation:promoter RGD PMID:17548682 RGD:2293543 NCBI chr 8:119,010,150...120,051,668
Ensembl chr 8:119,010,472...120,051,660 		JBrowse link
G Cdk1 cyclin dependent kinase 1 ISO RGD PMID:18299147 RGD:2296067 NCBI chr10:69,170,976...69,188,742
Ensembl chr10:69,170,976...69,188,768 		JBrowse link
G Ebag9 estrogen receptor-binding fragment-associated gene 9 disease_progression ISO protein:increased expression:uterine cervix RGD PMID:16112176 RGD:2289851 NCBI chr15:44,482,574...44,504,916
Ensembl chr15:44,482,571...44,504,911 		JBrowse link
G Erbb4 erb-b2 receptor tyrosine kinase 4 ISO protein:increased expression: uterine cervix, cytoplasm RGD PMID:28042953 RGD:126790468 NCBI chr 1:68,071,063...69,147,756
Ensembl chr 1:68,071,345...69,147,218 		JBrowse link
G Fanca Fanconi anemia, 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 8:123,993,033...124,045,390
Ensembl chr 8:123,995,039...124,045,315 		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 5:33,879,068...33,894,412
Ensembl chr 5:33,879,018...33,894,412 		JBrowse link
G Gstm1 glutathione S-transferase, mu 1 susceptibility ISO RGD PMID:18177825 RGD:2293825 NCBI chr 3:107,919,566...107,925,289
Ensembl chr 3:107,919,571...107,925,289 		JBrowse link
G Gstt1 glutathione S-transferase, theta 1 susceptibility ISO RGD PMID:18177825 RGD:2293825 NCBI chr10:75,619,647...75,634,418
Ensembl chr10:75,619,647...75,634,418 		JBrowse link
G H2-Ab1 histocompatibility 2, class II antigen A, beta 1 susceptibility ISO associated with Papillomavirus Infections;DNA:polymorphism: :HLA-DQB1 G > A (rs6457617)(human)
DNA:polymorphisms::HLA-DQB1*050201, DQB1*060101, DQB1*0602(human)		 RGD PMID:25893807 PMID:16425277 RGD:36174015, RGD:36174023 NCBI chr17:34,482,201...34,488,392
Ensembl chr17:34,476,663...34,488,393 		JBrowse link
G H2-M2 histocompatibility 2, M region locus 2 susceptibility ISO associated with Papillomavirus Infections;DNA:polymorphism: :HLA-B7 RGD PMID:12543794 RGD:2314696 NCBI chr17:37,791,742...37,794,445
Ensembl chr17:37,791,742...37,794,443 		JBrowse link
G Hnrnpc heterogeneous nuclear ribonucleoprotein C ISO protein:increased expression:cervical epithelium (human) RGD PMID:19319956 RGD:10054394 NCBI chr14:52,310,834...52,341,491
Ensembl chr14:52,310,834...52,341,485 		JBrowse link
G Hoxb13 homeobox B13 ISO mRNA:increased expression:uterine cervix RGD PMID:16803519 RGD:2314728 NCBI chr11:96,085,142...96,087,436
Ensembl chr11:96,085,142...96,088,273 		JBrowse link
G Hspa8 heat shock protein 8 ISO Protein: increased expression RGD PMID:21137014 RGD:6218976 NCBI chr 9:40,712,572...40,716,498
Ensembl chr 9:40,712,280...40,721,383 		JBrowse link
G Il10 interleukin 10 disease_progression ISO protein:increased expression:serum RGD PMID:9541628 RGD:2317658 NCBI chr 1:130,947,459...130,952,707
Ensembl chr 1:130,947,582...130,952,711 		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 chr 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059 		JBrowse link
G Kdm3a lysine (K)-specific demethylase 3A severity ISO human gene in a mouse model RGD PMID:23492365 RGD:9590219 NCBI chr 6:71,565,954...71,609,963
Ensembl chr 6:71,565,956...71,609,974 		JBrowse link
G Kmt2a lysine (K)-specific methyltransferase 2A ISO human gene in a mouse model RGD PMID:22926525 RGD:9588221 NCBI chr 9:44,714,652...44,793,492
Ensembl chr 9:44,714,652...44,792,594 		JBrowse link
G Kmt2e lysine (K)-specific methyltransferase 2E ISO human gene in a mouse model RGD PMID:25172963 RGD:9588553 NCBI chr 5:23,638,034...23,709,233
Ensembl chr 5:23,639,439...23,709,233 		JBrowse link
G Macc1 metastasis associated in colon cancer 1 ISO mRNA:increased expression:cervical region (human) RGD PMID:33603486 RGD:152999025 NCBI chr12:119,354,133...119,430,669
Ensembl chr12:119,278,005...119,433,722 		JBrowse link
G Map2k3 mitogen-activated protein kinase kinase 3 treatment ISO RGD PMID:20980434 RGD:7495806 NCBI chr11:60,822,880...60,843,637
Ensembl chr11:60,822,859...60,843,637 		JBrowse link
G Map2k6 mitogen-activated protein kinase kinase 6 ISO RGD PMID:20980434 RGD:7495806 NCBI chr11:110,289,928...110,416,348
Ensembl chr11:110,289,948...110,416,348 		JBrowse link
G Mdc1 mediator of DNA damage checkpoint 1 ISO mRNA, protein:increased expression:uterine cervix (human) RGD PMID:21853275 RGD:9589052 NCBI chr17:36,152,390...36,170,562
Ensembl chr17:36,152,407...36,170,562 		JBrowse link
G Med4 mediator complex subunit 4 severity ISO mRNA:decreased expression:uterine cervix (human) RGD PMID:19911042 RGD:12880436 NCBI chr14:73,747,489...73,755,985
Ensembl chr14:73,747,465...73,756,289 		JBrowse link
G Mir152 microRNA 152 ISO miRNA:decreased expression:uterine cervix RGD PMID:30131089 RGD:19165142 NCBI chr11:96,741,219...96,741,291
Ensembl chr11:96,741,219...96,741,291 		JBrowse link
G Mir21a microRNA 21a severity ISO RGD PMID:32256824 RGD:40925949 NCBI chr11:86,474,893...86,474,984
Ensembl chr11:86,474,893...86,474,984 		JBrowse link
G Mir432 microRNA 432 ISO mRNA:decreased expression:cervical region (human) RGD PMID:33603486 RGD:152999025 NCBI chr12:109,561,390...109,561,464
Ensembl chr12:109,561,390...109,561,464 		JBrowse link
G Mmp13 matrix metallopeptidase 13 ISO mRNA:increased expression:uterine cervix RGD PMID:17243165 RGD:2306082 NCBI chr 9:7,272,514...7,283,333
Ensembl chr 9:7,272,514...7,283,331 		JBrowse link
G Mmp1a matrix metallopeptidase 1a (interstitial collagenase) disease_progression ISO DNA:insertion:promoter:g.-1607insG (human) RGD PMID:14550952 RGD:7207024 NCBI chr 9:7,464,141...7,476,870
Ensembl chr 9:7,464,141...7,476,857 		JBrowse link
G Mmp1b matrix metallopeptidase 1b (interstitial collagenase) disease_progression ISO DNA:insertion:promoter:g.-1607insG (human) RGD PMID:14550952 RGD:7207024 NCBI chr 9:7,367,670...7,388,026
Ensembl chr 9:7,368,239...7,388,047 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility ISO DNA:missense mutation:cds:g.1298A>C (human) RGD PMID:27771518 RGD:38501051 NCBI chr 4:148,123,534...148,144,019
Ensembl chr 4:148,123,534...148,144,008 		JBrowse link
G Ndufs6 NADH:ubiquinone oxidoreductase core subunit S6 disease_progression ISO DNA, mRNA:amplification, increased expression:uterine cervix RGD PMID:18559093 RGD:2302384 NCBI chr13:73,467,995...73,476,601
Ensembl chr13:73,467,957...73,476,661 		JBrowse link
G Nras neuroblastoma ras oncogene ISO mRNA:increased expression:uterine cervix RGD PMID:14984964 RGD:2314838 NCBI chr 3:102,965,643...102,975,230
Ensembl chr 3:102,965,601...102,975,230 		JBrowse link
G Pgm3 phosphoglucomutase 3 ISO RGD PMID:508567 RGD:2299870 NCBI chr 9:86,423,997...86,453,927
Ensembl chr 9:86,436,430...86,453,895 		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 chr17:11,059,227...12,282,257
Ensembl chr17:11,059,271...12,282,248 		JBrowse link
G Ptk2 PTK2 protein tyrosine kinase 2 disease_progression ISO RGD PMID:16638855 RGD:2292556 NCBI chr15:73,076,951...73,297,192
Ensembl chr15:73,076,951...73,295,129 		JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO protein:increased expression:foreskin RGD PMID:18543080 RGD:39128248 NCBI chr 5:121,268,596...121,329,460
Ensembl chr 5:121,268,596...121,329,460 		JBrowse link
G Ptpn6 protein tyrosine phosphatase, non-receptor type 6 ISO protein:increased expression:foreskin RGD PMID:18543080 RGD:39128248 NCBI chr 6:124,697,670...124,715,672
Ensembl chr 6:124,697,670...124,715,677 		JBrowse link
G Rassf1 Ras association (RalGDS/AF-6) domain family member 1 ISO associated with Papillomavirus Infections;DNA:hypermethylation:promoter RGD PMID:18608185 RGD:2299861 NCBI chr 9:107,428,752...107,439,460
Ensembl chr 9:107,428,754...107,439,466 		JBrowse link
G Sf3b4 splicing factor 3b, subunit 4 severity ISO mRNA, protein:increased expression:cervix (human)
human cells in mouse model		 RGD PMID:35853859 PMID:35853859 RGD:155882439, RGD:155882439 NCBI chr 3:96,079,822...96,084,880
Ensembl chr 3:96,079,648...96,084,880 		JBrowse link
G Smad2 SMAD family member 2 ISO DNA, mRNA:insertion, deletion, decreased expression:uterine cervix RGD PMID:12894231 RGD:2299968 NCBI chr18:76,369,898...76,444,819
Ensembl chr18:76,374,651...76,444,034 		JBrowse link
G Smad4 SMAD family member 4 ISO mRNA:decreased expression:uterine cervix RGD PMID:12894231 RGD:2299968 NCBI chr18:73,767,861...73,836,862
Ensembl chr18:73,772,080...73,836,851 		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 chr17:80,701,181...80,787,882
Ensembl chr17:80,701,180...80,787,882 		JBrowse link
G Spag5 sperm associated antigen 5 severity ISO mRNA, protein:increased expression:cervix (human) RGD PMID:35853859 RGD:155882439 NCBI chr11:78,192,412...78,213,283
Ensembl chr11:78,192,355...78,213,283 		JBrowse link
G Tap1 transporter 1, ATP-binding cassette, sub-family B (MDR/TAP) susceptibility ISO DNA:SNPs: : RGD PMID:18248301 PMID:12648582 RGD:6482260, RGD:6482272 NCBI chr17:34,406,530...34,416,199
Ensembl chr17:34,406,527...34,416,199 		JBrowse link
G Tap2 transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) susceptibility ISO DNA:SNPs: : RGD PMID:18248301 PMID:12648582 RGD:6482260, RGD:6482272 NCBI chr17:34,423,453...34,435,295
Ensembl chr17:34,422,501...34,435,295 		JBrowse link
G Timp4 tissue inhibitor of metalloproteinase 4 disease_progression ISO mRNA:increased expression:uterine cervix RGD PMID:15816637 RGD:2290434 NCBI chr 6:115,221,405...115,229,166
Ensembl chr 6:115,218,853...115,229,166 		JBrowse link
G Tnf tumor necrosis factor susceptibility ISO DNA:polymorphism:promoter:-308G>A (human) RGD PMID:19823053 RGD:2315116 NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983 		JBrowse link
G Tnfrsf10b tumor necrosis factor receptor superfamily, member 10b ISO RGD PMID:16271751 RGD:2290493 NCBI chr14:70,004,921...70,021,860
Ensembl chr14:70,004,921...70,021,860 		JBrowse link
G Trp53 transformation related protein 53 ISO ClinVar Annotator: match by term: Cervix cancer ClinVar PMID:1349102 PMID:1849234 PMID:9407971 PMID:12826609 PMID:15982667 More... NCBI chr11:69,471,174...69,482,699
Ensembl chr11:69,471,185...69,482,699 		JBrowse link
G Trp73 transformation related protein 73 susceptibility ISO DNA:SNPs:exon 2:4G>A, 14C>T (rs2273953, rs1801173) (human) RGD PMID:30420492 RGD:151347580 NCBI chr 4:154,140,706...154,224,332
Ensembl chr 4:154,140,706...154,224,665 		JBrowse link
G Xrcc1 X-ray repair complementing defective repair in Chinese hamster cells 1 ISO DNA:polymorphism: :p.R194W RGD PMID:18851872 RGD:2302567 NCBI chr 7:24,246,124...24,272,863
Ensembl chr 7:24,245,714...24,272,865 		JBrowse link
G Zfhx3 zinc finger homeobox 3 ISO mRNA:increased expression:uterine cervix RGD PMID:11812077 RGD:2315697 NCBI chr 8:109,005,975...109,688,268
Ensembl chr 8:108,669,276...109,688,262 		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 chr10:79,951,602...79,966,513
Ensembl chr10:79,951,637...79,966,516 		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 3:89,622,321...89,660,756
Ensembl chr 3:89,622,329...89,660,753 		JBrowse link
G Bax BCL2-associated X protein ISO protein:increased expression:uterine cervix RGD PMID:17694953 RGD:1643352 NCBI chr 7:45,111,124...45,116,332
Ensembl chr 7:45,111,121...45,116,322 		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 9:7,818,227...7,837,123
Ensembl chr 9:7,818,228...7,837,065 		JBrowse link
G Brip1 BRCA1 interacting protein C-terminal helicase 1 severity ISO mRNA, protein:increased expression:uterine cervix, nucleus (human) RGD PMID:24708616 RGD:11252104 NCBI chr11:85,948,957...86,092,041
Ensembl chr11:85,948,964...86,092,019 		JBrowse link
G Ccl22 C-C motif chemokine ligand 22 severity ISO RGD PMID:28086903 RGD:38455996 NCBI chr 8:95,472,312...95,478,016
Ensembl chr 8:95,472,218...95,478,327 		JBrowse link
G Ccr4 C-C motif chemokine receptor 4 severity ISO RGD PMID:28086903 RGD:38455996 NCBI chr 9:114,319,384...114,334,544
Ensembl chr 9:114,319,384...114,333,984 		JBrowse link
G Cd82 CD82 antigen ISO protein:decreased expression:uterine cervix RGD PMID:15642213 RGD:2289399 NCBI chr 2:93,249,447...93,293,295
Ensembl chr 2:93,249,456...93,293,485 		JBrowse link
G Csf1r colony stimulating factor 1 receptor ISO protein:increased expression:uterine cervix RGD PMID:18565574 RGD:2299119 NCBI chr18:61,238,644...61,264,211
Ensembl chr18:61,233,670...61,265,221 		JBrowse link
G Fgf7 fibroblast growth factor 7 ISO cervical squamous cell carcinoma RGD PMID:17306351 RGD:2289084 NCBI chr 2:125,876,578...125,933,105
Ensembl chr 2:125,876,578...125,933,105 		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 5:33,879,068...33,894,412
Ensembl chr 5:33,879,018...33,894,412 		JBrowse link
G Fos FBJ osteosarcoma oncogene disease_progression ISO protein:increased expression:uterine cervix RGD PMID:15514944 RGD:2293757 NCBI chr12:85,520,664...85,524,048
Ensembl chr12:85,520,664...85,524,047 		JBrowse link
G Fosl1 fos-like antigen 1 ISO protein:decreased expression:uterine cervix RGD PMID:15514944 RGD:2293757 NCBI chr19:5,497,726...5,505,966
Ensembl chr19:5,497,575...5,505,974 		JBrowse link
G Foxp3 forkhead box P3 severity ISO RGD PMID:28086903 RGD:38455996 NCBI chr  X:7,445,915...7,461,482
Ensembl chr  X:7,439,883...7,461,484 		JBrowse link
G Mir21a microRNA 21a ISO RNA:increased expression:cervical cell RGD PMID:26010154 RGD:41404529 NCBI chr11:86,474,893...86,474,984
Ensembl chr11:86,474,893...86,474,984 		JBrowse link
G Mir31 microRNA 31 ISO RNA:increased expression:blood serum (human) RGD PMID:21658006 RGD:152998938 NCBI chr 4:88,828,794...88,828,899
Ensembl chr 4:88,828,794...88,828,899 		JBrowse link
G Pdpn podoplanin disease_progression ISO RGD PMID:16528371 RGD:2292237 NCBI chr 4:142,993,979...143,026,134
Ensembl chr 4:142,994,001...143,026,134 		JBrowse link
G Smad3 SMAD family member 3 severity ISO RGD PMID:28086903 RGD:38455996 NCBI chr 9:63,554,048...63,665,276
Ensembl chr 9:63,554,049...63,665,276 		JBrowse link
G Timp2 tissue inhibitor of metalloproteinase 2 ISO protein:decreased expression:uterine cervix RGD PMID:16619570 RGD:2290402 NCBI chr11:118,191,887...118,246,237
Ensembl chr11:118,191,887...118,246,566 		JBrowse link
G Tmbim6 transmembrane BAX inhibitor motif containing 6 disease_progression ISO mRNA:increased expression:uterine cervix RGD PMID:15337562 RGD:2291959 NCBI chr15:99,290,828...99,307,930
Ensembl chr15:99,290,763...99,307,930 		JBrowse link
G Tnfrsf4 tumor necrosis factor receptor superfamily, member 4 severity ISO RGD PMID:28086903 RGD:38455996 NCBI chr 4:156,098,049...156,101,070
Ensembl chr 4:156,098,300...156,101,069 		JBrowse link
G Tnfsf4 tumor necrosis factor (ligand) superfamily, member 4 severity ISO RGD PMID:28086903 RGD:38455996 NCBI chr 1:161,223,009...161,245,777
Ensembl chr 1:161,222,980...161,245,981 		JBrowse link
G Trp53 transformation related protein 53 disease_progression ISO RGD PMID:17969407 RGD:2298526 NCBI chr11:69,471,174...69,482,699
Ensembl chr11:69,471,185...69,482,699 		JBrowse link
G Tymp thymidine phosphorylase disease_progression ISO RGD PMID:16803522 RGD:2293719 NCBI chr15:89,255,834...89,261,282
Ensembl chr15:89,256,134...89,261,242 		JBrowse link
cervicitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mir21a microRNA 21a ISO RNA:increased expression:cervical cell RGD PMID:26010154 RGD:41404529 NCBI chr11:86,474,893...86,474,984
Ensembl chr11:86,474,893...86,474,984 		JBrowse link
cervix carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apex1 apurinic/apyrimidinic endonuclease 1 ISO DNA:SNPs (human) RGD PMID:19202550 RGD:2315691 NCBI chr14:51,162,406...51,164,645
Ensembl chr14:51,162,425...51,164,596 		JBrowse link
G Bag1 BCL2-associated athanogene 1 ISO protein:increased expression:uterine cervix RGD PMID:10047462 RGD:2293889 NCBI chr 4:40,936,398...40,948,294
Ensembl chr 4:40,936,398...40,948,294 		JBrowse link
G Bak1 BCL2-antagonist/killer 1 ISO DNA:missense mutations:exon:multiple (human) RGD PMID:12771926 RGD:2315701 NCBI chr17:27,238,786...27,247,601
Ensembl chr17:27,238,784...27,247,983 		JBrowse link
G Ccnd3 cyclin D3 ISO RGD PMID:14751136 RGD:2316013 NCBI chr17:47,815,976...47,910,614
Ensembl chr17:47,815,976...47,910,616 		JBrowse link
G Cd9 CD9 antigen disease_progression ISO RGD PMID:14695144 RGD:2326206 NCBI chr 6:125,437,229...125,471,723
Ensembl chr 6:125,437,229...125,471,754 		JBrowse link
G Efemp2 epidermal growth factor-containing fibulin-like extracellular matrix protein 2 exacerbates ISO mRNA, protein:increased expression:cervix epithelium (human) RGD PMID:24737201 RGD:42722607 NCBI chr19:5,523,974...5,532,548
Ensembl chr19:5,523,982...5,532,545 		JBrowse link
G Erap1 endoplasmic reticulum aminopeptidase 1 ISO DNA:SNPs (human) RGD PMID:19202550 RGD:2315691 NCBI chr13:74,787,692...74,841,324
Ensembl chr13:74,787,687...74,841,320 		JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO RGD PMID:10471491 RGD:2289864 NCBI chr 5:33,879,068...33,894,412
Ensembl chr 5:33,879,018...33,894,412 		JBrowse link
G Gstm1 glutathione S-transferase, mu 1 onset ISO associated with Papillomavirus Infections;DNA:deletion:cds (human) RGD PMID:10813720 RGD:7495819 NCBI chr 3:107,919,566...107,925,289
Ensembl chr 3:107,919,571...107,925,289 		JBrowse link
G Gstt1 glutathione S-transferase, theta 1 susceptibility ISO DNA:deletion:cds (human) RGD PMID:10813720 RGD:7495819 NCBI chr10:75,619,647...75,634,418
Ensembl chr10:75,619,647...75,634,418 		JBrowse link
G H19 H19, imprinted maternally expressed transcript ISO mRNA:decreased expression:uterine cervix RGD PMID:11997082 RGD:2306179 NCBI chr 7:142,129,267...142,131,883
Ensembl chr 7:142,129,262...142,131,917 		JBrowse link
G Mgmt O-6-methylguanine-DNA methyltransferase ISO DNA:polymorphisms:cds:p.I143V, p.K178R (human) RGD PMID:17234722 RGD:2317690 NCBI chr 7:136,496,315...136,732,001
Ensembl chr 7:136,496,343...136,731,995 		JBrowse link
G Ptgs1 prostaglandin-endoperoxide synthase 1 disease_progression ISO RGD PMID:16803521 RGD:2300207 NCBI chr 2:36,106,758...36,142,287
Ensembl chr 2:36,120,438...36,142,284 		JBrowse link
G Ptk2 PTK2 protein tyrosine kinase 2 ISO protein:increased tyrosine phosphorylation:cervix RGD PMID:14675348 RGD:2292568 NCBI chr15:73,076,951...73,297,192
Ensembl chr15:73,076,951...73,295,129 		JBrowse link
G Sparc secreted acidic cysteine rich glycoprotein ISO DNA:hypermethylation RGD PMID:16434596 RGD:2300022 NCBI chr11:55,284,985...55,310,906
Ensembl chr11:55,285,326...55,314,009 		JBrowse link
G Tap2 transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) susceptibility ISO DNA:SNP: :(rs4148876)(human) RGD PMID:17366619 RGD:6482264 NCBI chr17:34,423,453...34,435,295
Ensembl chr17:34,422,501...34,435,295 		JBrowse link
G Tk1 thymidine kinase 1 ISO protein:increased expression:serum (human) RGD PMID:11474248 RGD:2317243 NCBI chr11:117,706,345...117,716,913
Ensembl chr11:117,706,352...117,716,918 		JBrowse link
G Tsg101 tumor susceptibility gene 101 ISO mRNA:alternative form:uterine cervix
mRNA:alternative forms:uterine cervix:multiple		 RGD PMID:10600297 PMID:10505033 RGD:2291851, RGD:2291852 NCBI chr 7:46,538,693...46,569,716
Ensembl chr 7:46,538,697...46,569,717 		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 chr 8:25,439,627...25,507,138
Ensembl chr 8:25,439,627...25,506,943 		JBrowse link
G Bcl2 B cell leukemia/lymphoma 2 disease_progression ISO protein:increased expression:uterine cervix RGD PMID:18561741 RGD:2298889 NCBI chr 1:106,465,906...106,642,020
Ensembl chr 1:106,465,908...106,642,004 		JBrowse link
G Brca1 breast cancer 1, early onset ISO DNA:deletions:exon RGD PMID:10442317 RGD:2298942 NCBI chr11:101,379,587...101,442,808
Ensembl chr11:101,379,590...101,442,781 		JBrowse link
G Cadm1 cell adhesion molecule 1 severity ISO RGD PMID:17009984 RGD:2289089 NCBI chr 9:47,441,468...47,773,578
Ensembl chr 9:47,441,471...47,769,413 		JBrowse link
G Ccnd1 cyclin D1 ISO protein:increased expression:uterine cervix RGD PMID:18301453 RGD:2293574 NCBI chr 7:144,483,668...144,493,568
Ensembl chr 7:144,483,668...144,493,662 		JBrowse link
G Ccne1 cyclin E1 ISO protein:increased expression:uterine cervix RGD PMID:18301453 RGD:2293574 NCBI chr 7:37,797,409...37,806,915
Ensembl chr 7:37,797,409...37,806,959 		JBrowse link
G Ccng1 cyclin G1 ISO protein:increased expression:uterine cervix RGD PMID:16845792 RGD:2316022 NCBI chr11:40,639,379...40,646,044
Ensembl chr11:40,639,379...40,646,138 		JBrowse link
G Cd274 CD274 antigen severity ISO associated with Papillomavirus Infections; protein:increased expression:dendritic cell RGD PMID:23521696 RGD:40822817 NCBI chr19:29,339,428...29,365,495
Ensembl chr19:29,344,855...29,365,495 		JBrowse link
G Cd46 CD46 antigen, complement regulatory protein ISO protein:increased expression:uterine cervix RGD PMID:9358772 RGD:2293549 NCBI chr 1:194,721,279...194,781,149
Ensembl chr 1:194,719,134...194,774,557 		JBrowse link
G Cdh1 cadherin 1 ISO DNA:hypermethylation:uterine cervix RGD PMID:17894941 RGD:2289490 NCBI chr 8:107,329,982...107,396,879
Ensembl chr 8:107,329,983...107,396,878 		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 chr10:126,899,404...126,903,157
Ensembl chr10:126,899,403...126,903,789 		JBrowse link
G Cdkn1a cyclin dependent kinase inhibitor 1A ISO protein:increased expression:epithelial cell: RGD PMID:9546362 RGD:8662446 NCBI chr17:29,309,953...29,319,696
Ensembl chr17:29,309,950...29,319,701 		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 chr 6:134,897,364...134,902,488
Ensembl chr 6:134,897,364...134,902,476 		JBrowse link
G Cdkn2a cyclin dependent kinase inhibitor 2A disease_progression ISO protein:increased expression:uterine cervix
DNA:hypermethylation		 RGD PMID:16406113 PMID:17415114 PMID:17910346 PMID:16778587 RGD:2296058, RGD:2289676, RGD:2289675, RGD:2296054 NCBI chr 4:89,192,710...89,212,856
Ensembl chr 4:89,192,708...89,212,890 		JBrowse link
G Cdkn2b cyclin dependent kinase inhibitor 2B ISO protein:increased expression:uterine cervix RGD PMID:17632454 RGD:2289695 NCBI chr 4:89,224,526...89,229,269
Ensembl chr 4:89,224,536...89,229,276 		JBrowse link
G Csf1r colony stimulating factor 1 receptor disease_progression ISO protein:increased expression:uterine cervix RGD PMID:18565574 RGD:2299119 NCBI chr18:61,238,644...61,264,211
Ensembl chr18:61,233,670...61,265,221 		JBrowse link
G Ctnna1 catenin alpha 1 disease_progression ISO protein:decreased expression:uterine cervix RGD PMID:11161853 RGD:2289797 NCBI chr18:35,251,955...35,387,829
Ensembl chr18:35,251,912...35,387,832 		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 chr16:31,482,261...31,692,174
Ensembl chr16:31,482,261...31,693,947 		JBrowse link
G Fasl Fas ligand ISO associated with Papillomavirus Infections RGD PMID:17433060 RGD:2290052 NCBI chr 1:161,608,260...161,616,064
Ensembl chr 1:161,608,258...161,616,064 		JBrowse link
G H2-Eb1 histocompatibility 2, class II antigen E beta ISO associated with Papillomavirus Infections RGD PMID:15458897 PMID:10073700 PMID:18351579 RGD:2306232, RGD:2314703, RGD:2306230 NCBI chr17:34,524,841...34,535,648
Ensembl chr17:34,524,841...34,535,648 		JBrowse link
G Hdac1 histone deacetylase 1 ISO protein:increased expression:uterine cervix RGD PMID:19147762 RGD:2306200 NCBI chr 4:129,409,897...129,436,516
Ensembl chr 4:129,409,897...129,436,506 		JBrowse link
G Hdac2 histone deacetylase 2 ISO protein:increased expression:uterine cervix RGD PMID:19147762 RGD:2306200 NCBI chr10:36,850,293...36,877,885
Ensembl chr10:36,850,540...36,877,885 		JBrowse link
G Hdac6 histone deacetylase 6 ISO protein:increased expression:uterine cervix RGD PMID:19147762 RGD:2306200 NCBI chr  X:7,796,355...7,814,284
Ensembl chr  X:7,796,359...7,814,128 		JBrowse link
G Igfbp3 insulin-like growth factor binding protein 3 ISO RGD PMID:14675666 PMID:17709267 RGD:2290021, RGD:2290004 NCBI chr11:7,156,086...7,165,498
Ensembl chr11:7,156,086...7,163,923 		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 chr 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059 		JBrowse link
G Mgp matrix Gla protein ISO RGD PMID:17960611 RGD:2293584 NCBI chr 6:136,849,433...136,852,821
Ensembl chr 6:136,849,433...136,852,821 		JBrowse link
G Mir21a microRNA 21a ISO RNA:increased expression:cervical cell RGD PMID:26010154 RGD:41404529 NCBI chr11:86,474,893...86,474,984
Ensembl chr11:86,474,893...86,474,984 		JBrowse link
G Mlh1 mutL homolog 1 ISO protein:increased expression:uterine cervix RGD PMID:15807307 RGD:2293515 NCBI chr 9:111,057,296...111,100,854
Ensembl chr 9:111,057,296...111,100,859 		JBrowse link
G Mmp2 matrix metallopeptidase 2 disease_progression ISO protein:increased expression:uterine cervix RGD PMID:16619570 RGD:2290402 NCBI chr 8:93,553,920...93,580,049
Ensembl chr 8:93,553,919...93,580,048 		JBrowse link
G Msh2 mutS homolog 2 ISO protein:increased expression:uterine cervix RGD PMID:15807307 RGD:2293515 NCBI chr17:87,979,960...88,031,141
Ensembl chr17:87,979,758...88,031,141 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17303386 NCBI chr 4:148,123,534...148,144,019
Ensembl chr 4:148,123,534...148,144,008 		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 chr 1:93,966,027...93,980,278
Ensembl chr 1:93,966,027...93,980,278 		JBrowse link
G Phb1 prohibitin 1 ISO protein:increased expression:uterine cervix RGD PMID:16426920 RGD:2292398 NCBI chr11:95,557,783...95,571,599
Ensembl chr11:95,557,783...95,571,599 		JBrowse link
G Pou4f1 POU domain, class 4, transcription factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20190800 NCBI chr14:104,699,111...104,705,554
Ensembl chr14:104,699,112...104,705,435 		JBrowse link
G Pten phosphatase and tensin homolog ISO protein:decreased expression:uterine cervix RGD PMID:17672936 RGD:2298701 NCBI chr19:32,734,977...32,803,560
Ensembl chr19:32,734,897...32,803,560 		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 1:149,975,851...149,983,978
Ensembl chr 1:149,975,782...149,983,978 		JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO associated with Adenocarcinoma RGD PMID:18234283 RGD:2299896 NCBI chr14:73,430,298...73,563,446
Ensembl chr14:73,421,113...73,563,262 		JBrowse link
G Rela v-rel reticuloendotheliosis viral oncogene homolog A (avian) disease_progression ISO protein:altered localization, increased expression:nucleus, uterine cervix RGD PMID:16850495 RGD:2298759 NCBI chr19:5,686,993...5,698,162
Ensembl chr19:5,687,511...5,698,158 		JBrowse link
G Skp2 S-phase kinase-associated protein 2 severity ISO associated with Papillomavirus Infections RGD PMID:19094580 RGD:2315036 NCBI chr15:9,112,070...9,155,512
Ensembl chr15:9,112,073...9,155,512 		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 chr11:87,937,325...87,944,583
Ensembl chr11:87,938,199...87,944,581 		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:2298536, RGD:2291916 NCBI chr11:100,777,632...100,830,447
Ensembl chr11:100,775,924...100,830,366 		JBrowse link
G Terc telomerase RNA component disease_progression ISO DNA:amplification:uterine cervix, epithelial cell RGD PMID:15793301 RGD:2291968 NCBI chr 3:96,321,753...96,322,149
Ensembl chr 3:96,321,753...96,322,149 		JBrowse link
G Tert telomerase reverse transcriptase disease_progression ISO protein:increased expression:uterine cervix RGD PMID:17644806 RGD:2291985 NCBI chr13:73,775,030...73,797,962
Ensembl chr13:73,775,030...73,797,962 		JBrowse link
G Thrb thyroid hormone receptor beta ISO DNA:loss of heterozygosity (human) RGD PMID:11483913 RGD:2315099 NCBI chr14:4,429,599...4,810,538
Ensembl chr14:4,431,611...4,809,435 		JBrowse link
G Tlr9 toll-like receptor 9 disease_progression ISO RGD PMID:17440926 RGD:2301099 NCBI chr 9:106,099,797...106,104,075
Ensembl chr 9:106,099,797...106,104,082 		JBrowse link
G Top2a topoisomerase (DNA) II alpha ISO RGD PMID:19051821 RGD:2315126 NCBI chr11:98,883,773...98,915,037
Ensembl chr11:98,883,769...98,915,015 		JBrowse link
G Trp63 transformation related protein 63 disease_progression ISO RGD PMID:16804722 RGD:2315435 NCBI chr16:25,502,513...25,710,838
Ensembl chr16:25,502,513...25,710,852 		JBrowse link
G Trp73 transformation related protein 73 disease_progression ISO mRNA:increased expression:uterine cervix RGD PMID:11870517 RGD:2290589 NCBI chr 4:154,140,706...154,224,332
Ensembl chr 4:154,140,706...154,224,665 		JBrowse link
G Vegfa vascular endothelial growth factor A ISO protein:increased expression:uterine cervix RGD PMID:19723043 RGD:2315456 NCBI chr17:46,327,919...46,343,303
Ensembl chr17:46,327,919...46,343,295 		JBrowse link
G Xiap X-linked inhibitor of apoptosis ISO protein:increased expression:uterine cervix RGD PMID:18325467 RGD:2315850 NCBI chr  X:41,148,483...41,198,541
Ensembl chr  X:41,148,556...41,198,533 		JBrowse link
chlamydia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccr5 C-C motif chemokine receptor 5 IMP RGD PMID:16118671 RGD:8549760 NCBI chr 9:123,921,557...123,934,153
Ensembl chr 9:123,921,580...123,947,736 		JBrowse link
G Cd40 CD40 antigen IEP RGD PMID:20102413 RGD:5132268 NCBI chr 2:164,897,535...164,913,574
Ensembl chr 2:164,897,547...164,914,868 		JBrowse link
G Foxp3 forkhead box P3 treatment ISO RGD PMID:30832593 RGD:38455984 NCBI chr  X:7,445,915...7,461,482
Ensembl chr  X:7,439,883...7,461,484 		JBrowse link
G Icam1 intercellular adhesion molecule 1 IEP mRNA:increased expression:lung (mouse) RGD PMID:19728926 RGD:4145507 NCBI chr 9:20,927,236...20,940,110
Ensembl chr 9:20,927,281...20,940,113 		JBrowse link
G Ido1 indoleamine 2,3-dioxygenase 1 treatment ISO
IEP		 mRNA:increased expression:lung (mouse) RGD PMID:30832593 PMID:31249813 RGD:38455984, RGD:39938856 NCBI chr 8:25,074,148...25,086,987
Ensembl chr 8:25,074,152...25,087,025 		JBrowse link
G Ifng interferon gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:19203382 NCBI chr10:118,276,951...118,281,799
Ensembl chr10:118,276,951...118,281,797 		JBrowse link
G Il13 interleukin 13 IMP RGD PMID:21573182 RGD:5684365 NCBI chr11:53,522,150...53,525,529
Ensembl chr11:53,522,151...53,525,529 		JBrowse link
G Il17a interleukin 17A IEP
IMP		 associated with Bronchial Hyprractivity; mRNA:increased expression:lung RGD PMID:20228193 PMID:19812198 RGD:4888528, RGD:4889101 NCBI chr 1:20,801,129...20,804,720
Ensembl chr 1:20,801,129...20,804,720 		JBrowse link
G Mir21a microRNA 21a IEP associated with asthma;RNA:increased expression:lung RGD PMID:27448447 RGD:41404696 NCBI chr11:86,474,893...86,474,984
Ensembl chr11:86,474,893...86,474,984 		JBrowse link
G Tgfb1 transforming growth factor, beta 1 treatment ISO RGD PMID:30832593 RGD:38455984 NCBI chr 7:25,386,406...25,404,503
Ensembl chr 7:25,386,427...25,404,502 		JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19203382 NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983 		JBrowse link
Chlamydia pneumonia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd274 CD274 antigen IEP mRNA:increased expression:lung RGD PMID:26378990 RGD:41412180 NCBI chr19:29,339,428...29,365,495
Ensembl chr19:29,344,855...29,365,495 		JBrowse link
G Pdcd1 programmed cell death 1 IEP mRNA:increased expression:lung RGD PMID:26378990 RGD:41412180 NCBI chr 1:93,966,027...93,980,278
Ensembl chr 1:93,966,027...93,980,278 		JBrowse link
G Pik3cd phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta severity IMP RGD PMID:29893841 RGD:40890270 NCBI chr 4:149,733,625...149,787,023
Ensembl chr 4:149,733,625...149,787,028 		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 chr17:34,816,545...34,819,911
Ensembl chr17:34,816,836...34,819,910 		JBrowse link
G Fas Fas cell surface death receptor ISO protein:increased expression:villous trophoblast RGD PMID:12700199 RGD:12904022 NCBI chr19:34,267,926...34,305,175
Ensembl chr19:34,268,066...34,305,172 		JBrowse link
G Il1a interleukin 1 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:21493953 NCBI chr 2:129,141,530...129,151,892
Ensembl chr 2:129,141,530...129,151,892 		JBrowse link
G Il6 interleukin 6 ISO protein:increased expression:plasma
protein:increased expression: cervicovaginal fluid :
associated with Premature Birth;protein:increased expression:tracheal aspirate fluid:		 RGD PMID:15547537 PMID:25687566 PMID:25011638 RGD:5128667, RGD:12792243, RGD:12791291 NCBI chr 5:30,218,112...30,224,973
Ensembl chr 5:30,218,112...30,224,979 		JBrowse link
G Lta lymphotoxin A severity ISO associated with Premature Birth;DNA:SNP:promoter:250G>A (human) RGD PMID:15128916 RGD:12904055 NCBI chr17:35,422,141...35,424,568
Ensembl chr17:35,422,141...35,424,327 		JBrowse link
G Mbl2 mannose-binding lectin (protein C) 2 susceptibility ISO DNA:polymorphism:exon:p.G54D(human) RGD PMID:15723707 RGD:12910932 NCBI chr19:30,210,306...30,217,087
Ensembl chr19:30,210,342...30,217,087 		JBrowse link
G Mmp9 matrix metallopeptidase 9 severity ISO protein:increased expression:respiratory system fluid/secretion RGD PMID:12712078 RGD:13204828 NCBI chr 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770 		JBrowse link
G Tgfb1 transforming growth factor, beta 1 severity ISO protein:increased expression:amniotic fluid RGD PMID:19332995 RGD:4145137 NCBI chr 7:25,386,406...25,404,503
Ensembl chr 7:25,386,427...25,404,502 		JBrowse link
G Tnf tumor necrosis factor no_association
severity		 ISO associated with Premature Birth;DNA:SNP:promoter:c.-308 G>A (human)
associated with Premature Birth;DNA:SNP:promoter:c.-238G>A (human)		 RGD PMID:15128916 PMID:15128916 RGD:12904055, RGD:12904055 NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983 		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 chr17:48,539,763...48,553,955
Ensembl chr17:48,539,796...48,553,952 		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 testicular germ cell neoplasms RGD PMID:11764380 RGD:2289339 NCBI chr19:45,724,930...45,731,380
Ensembl chr19:45,725,237...45,731,354 		JBrowse link
G Igf2 insulin-like growth factor 2 disease_progression ISO RGD PMID:17556377 RGD:2290454 NCBI chr 7:142,204,505...142,220,566
Ensembl chr 7:142,204,503...142,220,553 		JBrowse link
G Insr insulin receptor disease_progression ISO RGD PMID:17556377 RGD:2290454 NCBI chr 8:3,200,922...3,329,649
Ensembl chr 8:3,172,061...3,329,617 		JBrowse link
G Pdgfb platelet derived growth factor, B polypeptide ISO mRNA:increased expression:mononuclear cytotrophoblast cell RGD PMID:8504434 RGD:2292200 NCBI chr15:79,880,066...79,899,178
Ensembl chr15:79,880,075...79,899,178 		JBrowse link
G Pdgfrb platelet derived growth factor receptor, beta polypeptide ISO mRNA:increased expression:mononuclear cytotrophoblast cell RGD PMID:8504434 RGD:2292200 NCBI chr18:61,178,194...61,218,139
Ensembl chr18:61,178,222...61,218,133 		JBrowse link
G Timp3 tissue inhibitor of metalloproteinase 3 ISO DNA, protein:hypermethylation, decreased expression:promoter, placenta RGD PMID:15507671 RGD:2290418 NCBI chr10:86,136,276...86,185,369
Ensembl chr10:86,136,236...86,185,370 		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:159,173,315...159,281,072
Ensembl chr  X:159,173,686...159,281,066 		JBrowse link
G Cftr cystic fibrosis transmembrane conductance regulator ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital bilateral absence of the vas deferens
associated with Cystic Fibrosis
DNA:deletion, missense mutations: :multiple
DNA:deletion, nonsense mutations, missense mutations: :multiple		 CTD
ClinVar
RGD		 PMID:7539342 PMID:8530001 PMID:8662892 PMID:9239681 PMID:9598638 More... RGD:11566051, RGD:11566040, RGD:11566027 NCBI chr 6:18,170,686...18,322,769
Ensembl chr 6:18,170,686...18,322,767 		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 chr11:105,858,774...105,880,790
Ensembl chr11:105,858,771...105,880,790 		JBrowse link
G Agtr2 angiotensin II receptor, type 2 ISO RGD PMID:22113494 RGD:6903875 NCBI chr  X:21,350,863...21,355,072
Ensembl chr  X:21,350,783...21,355,403 		JBrowse link
G Atp7a ATPase, Cu++ transporting, alpha polypeptide ISO mRNA, protein:decreased expression:diaphragm (rat) RGD PMID:25319798 RGD:11341670 NCBI chr  X:105,070,830...105,171,766
Ensembl chr  X:105,070,882...105,168,532 		JBrowse link
G Bmp4 bone morphogenetic protein 4 ISO mRNA:decreased expression:heart: RGD PMID:18280291 RGD:9068407 NCBI chr14:46,620,982...46,628,126
Ensembl chr14:46,620,977...46,628,126 		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 chr18:61,058,704...61,121,224
Ensembl chr18:61,058,690...61,121,224 		JBrowse link
G Cbl Casitas B-lineage lymphoma ISO mRNA,protein:decreased expression, hypophosphorylation:lung, alveolar epithelium: RGD PMID:23143077 RGD:11038813 NCBI chr 9:44,054,273...44,145,556
Ensembl chr 9:44,054,273...44,145,346 		JBrowse link
G Ccl2 C-C motif chemokine ligand 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30418988 NCBI chr11:81,926,403...81,928,278
Ensembl chr11:81,926,397...81,928,279 		JBrowse link
G Ccn2 cellular communication network factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20939759 PMID:21258935 NCBI chr10:24,471,340...24,474,581
Ensembl chr10:24,471,340...24,474,581 		JBrowse link
G Des desmin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital diaphragmatic hernia		 CTD
ClinVar		 PMID:14724127 PMID:15477095 PMID:16217025 PMID:16519886 PMID:16828798 More... NCBI chr 1:75,336,936...75,345,223
Ensembl chr 1:75,336,973...75,345,223 		JBrowse link
G Eln elastin ISO mRNA,protein:increased expression:lung: RGD PMID:12194112 RGD:9585688 NCBI chr 5:134,731,449...134,776,300
Ensembl chr 5:134,731,447...134,776,177 		JBrowse link
G Ep300 E1A binding protein p300 ISO mRNA:decreased expression:lung RGD PMID:24488106 RGD:9588310 NCBI chr15:81,470,329...81,536,278
Ensembl chr15:81,469,552...81,536,278 		JBrowse link
G Epo erythropoietin ISO CTD Direct Evidence: marker/mechanism CTD PMID:27880037 NCBI chr 5:137,481,282...137,484,078
Ensembl chr 5:137,481,282...137,531,504 		JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Congenital diaphragmatic hernia ClinVar PMID:23806086 PMID:24088041 PMID:25736269 NCBI chr 2:125,142,514...125,348,417
Ensembl chr 2:125,142,514...125,349,913 		JBrowse link
G Fgfrl1 fibroblast growth factor receptor-like 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital diaphragmatic hernia		 CTD
ClinVar		 PMID:20938900 PMID:25741868 PMID:28492532 PMID:33443296 NCBI chr 5:108,842,051...108,854,816
Ensembl chr 5:108,840,248...108,854,790 		JBrowse link
G Foxc2 forkhead box C2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27663689 NCBI chr 8:121,842,910...121,845,634
Ensembl chr 8:121,842,910...121,845,634 		JBrowse link
G Foxf1 forkhead box F1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27663689 NCBI chr 8:121,811,100...121,814,883
Ensembl chr 8:121,811,125...121,814,883 		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 chr 5:96,518,622...96,932,592
Ensembl chr 5:96,521,814...96,932,587 		JBrowse link
G Frem1 Fras1 related extracellular matrix protein 1 ISO
IAGP		 DNA:deletion, frame shift:cds, splice junction:
ClinVar Annotator: match by term: Agenesis of hemidiaphragm
OMIM:142340 | OMIM:222400 | OMIM:610187
CTD Direct Evidence: marker/mechanism
mRNA,protein:decreased expression:diaphragm:		 ClinVar
MouseDO
CTD
RGD		 PMID:23221805 PMID:23806086 PMID:24088041 PMID:25736269 PMID:25741868 More... RGD:11554181, RGD:11554195, RGD:11554181 NCBI chr 4:82,816,157...82,970,743
Ensembl chr 4:82,816,157...82,970,576 		JBrowse link
G Frem2 Fras1 related extracellular matrix protein 2 ISO ClinVar Annotator: match by term: Congenital diaphragmatic hernia ClinVar PMID:25741868 PMID:28492532 PMID:30143558 NCBI chr 3:53,421,359...53,566,014
Ensembl chr 3:53,421,359...53,564,776 		JBrowse link
G Gata4 GATA binding protein 4 ISO
IAGP		 CTD Direct Evidence: marker/mechanism
OMIM:142340 | OMIM:222400 | OMIM:610187		 CTD
MouseDO		 PMID:23426975 NCBI chr14:63,436,363...63,509,161
Ensembl chr14:63,436,371...63,509,141 		JBrowse link
G Gata6 GATA binding protein 6 ISO mRNA:decreased expression:heart (rat) RGD PMID:18280291 RGD:9068407 NCBI chr18:11,052,510...11,085,636
Ensembl chr18:11,052,064...11,085,635 		JBrowse link
G Gli3 GLI-Kruppel family member GLI3 ISO ClinVar Annotator: match by term: Congenital diaphragmatic hernia ClinVar NCBI chr13:15,638,308...15,904,611
Ensembl chr13:15,637,820...15,904,611 		JBrowse link
G Htr2a 5-hydroxytryptamine (serotonin) receptor 2A ISO mRNA, protein:increased expression:lung RGD PMID:24888825 RGD:401901089 NCBI chr14:74,878,314...74,944,299
Ensembl chr14:74,878,280...74,946,934 		JBrowse link
G Igf1 insulin-like growth factor 1 ISO mRNA:decreased expression:heart (rat) RGD PMID:11409163 RGD:12904929 NCBI chr10:87,694,127...87,772,909
Ensembl chr10:87,694,127...87,772,904 		JBrowse link
G Igf1r insulin-like growth factor I receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20620343 PMID:21433279 NCBI chr 7:67,601,486...67,883,416
Ensembl chr 7:67,602,575...67,883,416 		JBrowse link
G Igf2 insulin-like growth factor 2 treatment ISO RGD PMID:24352370 RGD:10402563 NCBI chr 7:142,204,505...142,220,566
Ensembl chr 7:142,204,503...142,220,553 		JBrowse link
G Igf2r insulin-like growth factor 2 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20620343 PMID:21433279 NCBI chr17:12,901,293...12,988,593
Ensembl chr17:12,901,293...12,988,551 		JBrowse link
G Igfbp3 insulin-like growth factor binding protein 3 ISO RGD PMID:19844724 RGD:10402761 NCBI chr11:7,156,086...7,165,498
Ensembl chr11:7,156,086...7,163,923 		JBrowse link
G Igfbp5 insulin-like growth factor binding protein 5 ISO RGD PMID:19844724 RGD:10402761 NCBI chr 1:72,897,224...72,914,024
Ensembl chr 1:72,897,091...72,914,043 		JBrowse link
G Insr insulin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21433279 NCBI chr 8:3,200,922...3,329,649
Ensembl chr 8:3,172,061...3,329,617 		JBrowse link
G Kcnq5 potassium voltage-gated channel, subfamily Q, member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28189443 NCBI chr 1:21,468,623...22,032,874
Ensembl chr 1:21,468,627...22,032,166 		JBrowse link
G Kif7 kinesin family member 7 ISO
IAGP		 mRNA,protein:decreased expression:diaphragmatic mesenchyme, pulmonary mesenchyme;
OMIM:142340 | OMIM:222400 | OMIM:610187		 MouseDO
RGD		 PMID:25921351 RGD:11553839 NCBI chr 7:79,347,846...79,365,520
Ensembl chr 7:79,347,846...79,365,468 		JBrowse link
G Lcn2 lipocalin 2 ISO mRNA:decreased expression:lung
protein:decreased expression:amniotic fluid		 RGD PMID:27592368 PMID:27592368 RGD:126790533, RGD:126790533 NCBI chr 2:32,274,649...32,277,751
Ensembl chr 2:32,274,645...32,278,264 		JBrowse link
G Lrp1 low density lipoprotein receptor-related protein 1 IAGP OMIM:142340 | OMIM:222400 | OMIM:610187 MouseDO NCBI chr10:127,374,026...127,457,158
Ensembl chr10:127,374,030...127,457,017 		JBrowse link
G Lztr1 leucine-zipper-like transcriptional regulator, 1 ISO ClinVar Annotator: match by term: Congenital diaphragmatic hernia ClinVar PMID:24362817 PMID:25335493 PMID:25480913 PMID:25741868 PMID:25795793 More... NCBI chr16:17,326,124...17,344,197
Ensembl chr16:17,326,552...17,344,197 		JBrowse link
G Met met proto-oncogene ISO ClinVar Annotator: match by term: Agenesis of hemidiaphragm ClinVar PMID:1104268 PMID:14559814 PMID:17483355 PMID:21970370 PMID:22703879 More... NCBI chr 6:17,463,351...17,573,979
Ensembl chr 6:17,463,799...17,573,979 		JBrowse link
G Mn1 meningioma 1 ISO ClinVar Annotator: match by term: Agenesis of hemidiaphragm ClinVar PMID:25741868 PMID:31834374 NCBI chr 5:111,565,145...111,604,890
Ensembl chr 5:111,565,228...111,604,899 		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 chr11:60,360,165...60,419,195
Ensembl chr11:60,360,165...60,419,195 		JBrowse link
G Myod1 myogenic differentiation 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21258934 NCBI chr 7:46,025,898...46,028,516
Ensembl chr 7:46,025,898...46,028,523 		JBrowse link
G Myrf myelin regulatory factor ISO DNA:mutations:multiple: RGD PMID:30532227 RGD:200226345 NCBI chr19:10,185,635...10,218,134
Ensembl chr19:10,185,636...10,218,112 		JBrowse link
G Ndst1 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1 IAGP OMIM:142340 | OMIM:222400 | OMIM:610187 MouseDO NCBI chr18:60,817,566...60,907,465
Ensembl chr18:60,817,566...60,881,722 		JBrowse link
G Nos3 nitric oxide synthase 3, endothelial cell ISO protein:decreased expression:pulmonary artery (rat) RGD PMID:29216632 RGD:13504720 NCBI chr 5:24,569,772...24,589,472
Ensembl chr 5:24,569,808...24,589,472 		JBrowse link
G Nr2f2 nuclear receptor subfamily 2, group F, member 2 IAGP OMIM:142340 | OMIM:222400 | OMIM:610187 MouseDO NCBI chr 7:70,001,694...70,016,494
Ensembl chr 7:70,001,692...70,016,483 		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 chr 1:78,077,904...78,173,773
Ensembl chr 1:78,077,904...78,173,771 		JBrowse link
G Pdgfra platelet derived growth factor receptor, alpha polypeptide IAGP OMIM:142340 | OMIM:222400 | OMIM:610187 MouseDO NCBI chr 5:75,311,988...75,358,867
Ensembl chr 5:75,312,953...75,358,876 		JBrowse link
G Pgap3 post-GPI attachment to proteins 3 ISO ClinVar Annotator: match by term: Agenesis of hemidiaphragm ClinVar PMID:25741868 PMID:30345601 NCBI chr11:98,279,498...98,292,022
Ensembl chr11:98,279,503...98,291,316 		JBrowse link
G Pim1 proviral integration site 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25812446 NCBI chr17:29,709,759...29,715,085
Ensembl chr17:29,709,727...29,715,086 		JBrowse link
G Pls3 plastin 3 (T-isoform) ISO ClinVar Annotator: match by term: Congenital diaphragmatic hernia ClinVar NCBI chr  X:74,829,259...74,918,788
Ensembl chr  X:74,829,260...74,918,788 		JBrowse link
G Rhoa ras homolog family member A ISO CTD Direct Evidence: marker/mechanism CTD PMID:25783350 NCBI chr 9:108,183,359...108,215,142
Ensembl chr 9:108,183,328...108,215,133 		JBrowse link
G Robo4 roundabout guidance receptor 4 ISO ClinVar Annotator: match by term: Congenital diaphragmatic hernia ClinVar NCBI chr 9:37,313,198...37,325,319
Ensembl chr 9:37,313,193...37,326,411 		JBrowse link
G Sftpa1 surfactant associated protein A1 treatment ISO RGD PMID:11051153 RGD:151667435 NCBI chr14:40,853,745...40,858,330
Ensembl chr14:40,853,739...40,858,409 		JBrowse link
G