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RGD DISEASE ONTOLOGY - ANNOTATIONS

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

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


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Female Urogenital Diseases term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AMH anti-Mullerian hormone ISO CTD Direct Evidence: marker/mechanism CTD PMID:16002989 NCBI chr 6:2,047,756...2,051,073
Ensembl chr 6:2,048,319...2,050,958
JBrowse link
G AMHR2 anti-Mullerian hormone receptor type 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16002989 NCBI chr11:49,524,864...49,534,774
Ensembl chr11:49,525,641...49,534,712
JBrowse link
G BMPR1A bone morphogenetic protein receptor type 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:16002989 NCBI chr 9:44,944,463...45,108,832
Ensembl chr 9:44,941,460...45,027,275
JBrowse link
G EMX2 empty spiracles homeobox 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16002989 NCBI chr 9:110,347,043...110,353,647
Ensembl chr 9:110,347,379...110,353,643
JBrowse link
G ESR1 estrogen receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16002989 NCBI chr13:79,153,418...79,554,552
Ensembl chr13:79,270,265...79,554,549
JBrowse link
G HOXA10 homeobox A10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16002989 NCBI chr21:31,189,240...31,198,244 JBrowse link
G HOXA11 homeobox A11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16002989 NCBI chr21:31,180,232...31,187,709
Ensembl chr21:31,183,682...31,186,010
JBrowse link
G HOXA13 homeobox A13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16002989 NCBI chr21:31,168,239...31,175,960
Ensembl chr21:31,168,793...31,173,056
JBrowse link
G IGF1 insulin like growth factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16002989 NCBI chr11:97,624,498...97,708,730
Ensembl chr11:97,631,189...97,707,308
JBrowse link
G LHX1 LIM homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16002989 NCBI chr16:30,843,062...30,850,182
Ensembl chr16:30,842,652...30,849,465
JBrowse link
G LIF LIF interleukin 6 family cytokine ISO CTD Direct Evidence: marker/mechanism CTD PMID:16002989 NCBI chr19:13,121,261...13,127,663
Ensembl chr19:13,121,297...13,127,679
JBrowse link
G LOC103216393 paired box protein Pax-2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16002989 NCBI chr 9:93,763,975...93,847,180 JBrowse link
G MSX2 msh homeobox 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16513791 NCBI chr23:76,873,499...76,879,935
Ensembl chr23:76,873,669...76,879,553
JBrowse link
G TIMP1 TIMP metallopeptidase inhibitor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16002989
G TP63 tumor protein p63 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16002989 NCBI chr15:83,861,489...84,126,675 JBrowse link
G WNT4 Wnt family member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16002989 NCBI chr20:110,517,391...110,543,802
Ensembl chr20:110,517,564...110,541,203
JBrowse link
G WNT5A Wnt family member 5A ISO CTD Direct Evidence: marker/mechanism CTD PMID:16002989 NCBI chr22:16,809,454...16,836,815
Ensembl chr22:16,809,451...16,825,048
JBrowse link
G WNT7A Wnt family member 7A ISO CTD Direct Evidence: marker/mechanism CTD PMID:16002989 NCBI chr22:49,805,415...49,863,115
Ensembl chr22:49,805,463...49,862,830
JBrowse link
46 XX gonadal dysgenesis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FANCL FA complementation group L ISO OMIM:233300 | OMIM:278850 | OMIM:300833 | OMIM:400045 | OMIM:611812 | OMIM:614324 MouseDO NCBI chr14:48,725,447...48,803,892
Ensembl chr14:48,725,541...48,805,356
JBrowse link
G FSHR follicle stimulating hormone receptor ISO ClinVar Annotator: match by term: Gonadal dysgenesis, XX type | ClinVar Annotator: match by term: Ovarian dysgenesis ClinVar PMID:25741868 PMID:28492532 NCBI chr14:58,013,405...58,211,528
Ensembl chr14:58,013,742...58,212,755
JBrowse link
G MRPS22 mitochondrial ribosomal protein S22 ISO ClinVar Annotator: match by term: 46 XX gonadal dysgenesis ClinVar PMID:25741868 PMID:28492532 PMID:29566152 NCBI chr15:51,198,515...51,211,587
Ensembl chr15:51,198,553...51,211,532
JBrowse link
G NR5A1 nuclear receptor subfamily 5 group A member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19246354 NCBI chr12:13,640,453...13,666,748
Ensembl chr12:13,640,473...13,666,863
JBrowse link
46,XX sex reversal 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SRY sex determining region Y ISO ClinVar Annotator: match by term: 46,XX sex reversal 1 OMIM
ClinVar
PMID:25741868 NCBI chr  X:927,143...928,924
Ensembl chr  X:927,692...928,303
JBrowse link
46,XX sex reversal 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SOX9 SRY-box transcription factor 9 ISO ClinVar Annotator: match by term: 46,XX sex reversal 2 ClinVar PMID:21208124 PMID:22051515 NCBI chr16:49,519,749...49,523,967
Ensembl chr16:49,518,185...49,523,898
JBrowse link
acquired immunodeficiency syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB1 ATP binding cassette subfamily B member 1 treatment ISO DNA:SNP: : rs10276036(human)
DNA:haplotype: :3435T>C((rs1045642), 2677T>G (rs2032582) (human)
RGD PMID:23372834 PMID:24517233 RGD:11098698 RGD:39456119 NCBI chr21:61,211,044...61,430,691
Ensembl chr21:61,322,748...61,529,274
JBrowse link
G ARHGAP44 Rho GTPase activating protein 44 disease_progression ISO DNA:SNPs, haplotype:intron, exon: (rs2072255, rs2072254) (human)
DNA:SNP:intron: (rs2072255) (human)
RGD PMID:21107268 PMID:28069446 RGD:401901288 RGD:401901289 NCBI chr16:12,125,543...12,328,203
Ensembl chr16:12,125,574...12,330,501
JBrowse link
G BST2 bone marrow stromal cell antigen 2 ISO DNA:SNPs: : RGD PMID:26885809 RGD:14398494 NCBI chr 6:15,900,396...15,903,072
Ensembl chr 6:15,900,011...15,903,060
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 PMID:25741868 NCBI chr22:7,803,794...7,818,112 JBrowse link
G CD209 CD209 molecule disease_progression ISO associated with factor VIII deficiency; DNA:SNP:promoter: g.-139C>T (rs2287886) (human) RGD PMID:17530998 RGD:39939010 NCBI chr 6:7,219,576...7,235,755
Ensembl chr 6:7,228,378...7,235,208
JBrowse link
G CD4 CD4 molecule ISO associated with drug dependence; protein:increased expression:temporal lobe (human) RGD PMID:16873198 RGD:407420271 NCBI chr11:6,824,797...6,856,440
Ensembl chr11:6,825,245...6,853,852
JBrowse link
G CD40LG CD40 ligand treatment ISO RGD PMID:9499800 RGD:11344976 NCBI chr  X:111,655,301...111,667,602
Ensembl chr  X:111,655,397...111,666,639
JBrowse link
G CD68 CD68 molecule ISO associated with drug dependence; protein:increased expression:temporal lobe (human) RGD PMID:16873198 RGD:407420271 NCBI chr16:6,956,633...6,959,645
Ensembl chr16:6,957,212...6,959,042
JBrowse link
G CD8A CD8 subunit alpha ISO associated with drug dependence; protein:increased expression:temporal lobe (human) RGD PMID:16873198 RGD:407420271 NCBI chr14:18,878,013...18,885,183
Ensembl chr14:18,878,622...18,883,885
JBrowse link
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit susceptibility ISO DNA:polymorphism:exon:p.K751Q(human) RGD PMID:20127180 RGD:5688740 NCBI chr 6:38,804,296...38,823,229
Ensembl chr 6:38,801,423...38,823,073
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 8:37,930,910...37,950,790
Ensembl chr 8:37,930,562...37,946,505
JBrowse link
G IFNG interferon gamma ISO ClinVar Annotator: match by term: Acquired immunodeficiency syndrome, rapid progression to ClinVar PMID:12854077 NCBI chr11:63,785,493...63,791,071
Ensembl chr11:63,786,041...63,790,473
JBrowse link
G IGF2 insulin like growth factor 2 ISO protein:decreased expression:plasma RGD PMID:11232005 RGD:5509969 NCBI chr 1:1,937,414...1,951,238
Ensembl chr 1:1,936,830...1,945,388
JBrowse link
G IL2 interleukin 2 ISO CTD Direct Evidence: therapeutic CTD PMID:9861562 NCBI chr 7:69,729,635...69,736,279
Ensembl chr 7:69,730,282...69,734,969
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 6:47,521,488...47,527,713
Ensembl chr 6:47,521,956...47,530,961
JBrowse link
G NCR3 natural cytotoxicity triggering receptor 3 ISO protein:decreased expression:peripheral blood mononuclear cell,natural killer cell (human) RGD PMID:27382604 RGD:40818276
G TNF tumor necrosis factor ISO RGD PMID:8548330 RGD:12904035
G TNFRSF1A TNF receptor superfamily member 1A ISO RGD PMID:8548330 RGD:12904035 NCBI chr11:6,364,544...6,378,880
Ensembl chr11:6,364,330...6,378,902
JBrowse link
G TNFRSF1B TNF receptor superfamily member 1B ISO RGD PMID:8548330 RGD:12904035 NCBI chr20:119,590,621...119,633,562
Ensembl chr20:119,590,325...119,633,497
JBrowse link
acromesomelic dysplasia-3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BMPR1B bone morphogenetic protein receptor type 1B ISO ClinVar Annotator: match by term: ACROMESOMELIC DYSPLASIA 3 | ClinVar Annotator: match by term: Acromesomelic dysplasia 3 | ClinVar Annotator: match by term: Acromesomelic dysplasia, Demirhan type | ClinVar Annotator: match by term: CHONDRODYSPLASIA, ACROMESOMELIC, WITH OR WITHOUT GENITAL ANOMALIES OMIM
ClinVar
PMID:15805157 PMID:22374147 PMID:24129431 PMID:25741868 PMID:25758993 More...
adhesions of uterus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KDR kinase insert domain receptor treatment
severity
ISO mRNA, protein:increased expression:endometrium RGD PMID:31596310 RGD:126925216 NCBI chr 7:13,435,059...13,482,236
Ensembl chr 7:13,435,096...13,482,771
JBrowse link
G VEGFA vascular endothelial growth factor A ISO mRNA, protein:increased expression:endometrium RGD PMID:31596310 RGD:126925216 NCBI chr17:28,377,959...28,394,508 JBrowse link
AIDS Dementia Complex term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADRB2 adrenoceptor beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27400929 NCBI chr23:51,445,920...51,447,942
Ensembl chr23:51,446,154...51,447,401
JBrowse link
G EPO erythropoietin treatment ISO RGD PMID:20818790 RGD:10395393 NCBI chr28:12,487,222...12,491,986
Ensembl chr28:12,489,766...12,491,908
JBrowse link
G GC GC vitamin D binding protein ISO associated with HIV Infections;protein:increased expression:cerebrospinal fluid: RGD PMID:17929958 RGD:5509882 NCBI chr 7:20,254,604...20,298,384
Ensembl chr 7:20,253,879...20,298,265
JBrowse link
G IL1B interleukin 1 beta ISO protein:increased expression:neocortex RGD PMID:17678975 RGD:1626641 NCBI chr14:15,844,628...15,852,652
Ensembl chr14:15,844,672...15,850,729
JBrowse link
G INSR insulin receptor severity ISO protein:increased expression:cerebrospinal fluid, plasma RGD PMID:22629383 RGD:10403033 NCBI chr 6:6,625,951...6,803,610
Ensembl chr 6:6,630,777...6,803,592
JBrowse link
G IRS1 insulin receptor substrate 1 severity ISO protein:decreased tyrosine phosphorylation:cerebrospinal fluid, leukocyte RGD PMID:22629383 RGD:10403033 NCBI chr10:112,748,283...112,812,368 JBrowse link
G NEFL neurofilament light chain ISO protein:increased expression:CSF (human)
associated with HIV Seropositivity;protein:increased expression:plasma, CSF (human)
RGD PMID:27400930 PMID:30105502 RGD:127284876 RGD:127284885 NCBI chr 8:23,077,085...23,083,213
Ensembl chr 8:23,077,086...23,083,222
JBrowse link
G NPY neuropeptide Y severity ISO protein:increased expression:cerebrospinal fluid RGD PMID:8815163 RGD:10431910 NCBI chr21:34,068,533...34,076,205
Ensembl chr21:34,068,530...34,075,127
JBrowse link
G OPRM1 opioid receptor mu 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27400929 NCBI chr13:81,568,295...81,650,005
Ensembl chr13:81,568,732...81,625,088
JBrowse link
G PDGFB platelet derived growth factor subunit B ISO RGD PMID:21368226 RGD:6482787 NCBI chr19:21,865,792...21,888,068
Ensembl chr19:21,863,768...21,886,395
JBrowse link
G SLC6A4 solute carrier family 6 member 4 ISO RGD PMID:25404050 RGD:38676266 NCBI chr16:23,929,196...23,969,665
Ensembl chr16:23,927,311...23,955,616
JBrowse link
AIDS-Associated Nephropathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AGTR1 angiotensin II receptor type 1 ISO RGD PMID:2 RGD:1303381 NCBI chr15:41,957,826...42,002,776 JBrowse link
G AGTR2 angiotensin II receptor type 2 ISO RGD PMID:2 RGD:1303381
G EGF epidermal growth factor ISO RGD PMID:19357719 RGD:6906909 NCBI chr 7:57,810,110...57,911,361
Ensembl chr 7:57,811,728...57,911,516
JBrowse link
G MTOR mechanistic target of rapamycin kinase ISO RGD PMID:23678040 RGD:7245474 NCBI chr20:120,522,667...120,678,988
Ensembl chr20:120,525,737...120,679,020
JBrowse link
G MYH9 myosin heavy chain 9 ISO protein:decreased expression:glomerulus RGD PMID:22313957 RGD:6903274 NCBI chr19:18,985,709...19,093,304
Ensembl chr19:18,986,598...19,052,671
JBrowse link
G NOTCH4 notch receptor 4 ISO protein: increased expression: kidney RGD PMID:20706108 RGD:6480788 NCBI chr17:39,806,864...39,837,101
Ensembl chr17:39,808,035...39,837,365
JBrowse link
G NPHS1 NPHS1 adhesion molecule, nephrin treatment ISO RGD PMID:17229913 PMID:19188342 RGD:38596324 RGD:38599164 NCBI chr 6:30,736,869...30,763,054
Ensembl chr 6:30,736,966...30,762,929
JBrowse link
AIDS-Related Kaposi Sarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BCL2 BCL2 apoptosis regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:10861090 NCBI chr18:16,440,560...16,643,187
Ensembl chr18:16,441,733...16,637,895
JBrowse link
AIDS-Related Opportunistic Infections term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CD4 CD4 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:9546790 NCBI chr11:6,824,797...6,856,440
Ensembl chr11:6,825,245...6,853,852
JBrowse link
G TNFRSF8 TNF receptor superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9379333 NCBI chr20:119,656,183...119,736,151
Ensembl chr20:119,657,614...119,715,078
JBrowse link
amenorrhea term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABHD2 abhydrolase domain containing 2, acylglycerol lipase ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr29:7,631,436...7,742,209
Ensembl chr29:7,631,412...7,740,394
JBrowse link
G ADAMTSL3 ADAMTS like 3 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr29:1,592,205...1,974,406
Ensembl chr29:1,592,300...1,972,722
JBrowse link
G ADARB2 adenosine deaminase RNA specific B2 (inactive) ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 9:1,136,461...1,644,196
Ensembl chr 9:1,137,037...1,301,657
JBrowse link
G AHCTF1 AT-hook containing transcription factor 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr25:83,889,934...83,978,965
Ensembl chr25:83,892,508...83,978,935
JBrowse link
G AMELX amelogenin X-linked ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr  X:9,927,740...9,934,104
Ensembl chr  X:9,741,594...9,745,776
Ensembl chr  X:9,741,594...9,745,776
JBrowse link
G AMFR autocrine motility factor receptor ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 5:42,276,672...42,334,508
Ensembl chr 5:42,275,584...42,334,207
JBrowse link
G ANKRD24 ankyrin repeat domain 24 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 6:3,932,677...3,972,476
Ensembl chr 6:3,949,211...3,972,176
JBrowse link
G ANOS1 anosmin 1 ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:25741868 PMID:27657687 PMID:28492532 PMID:32870266 NCBI chr  X:7,012,410...7,223,223 JBrowse link
G AP3B2 adaptor related protein complex 3 subunit beta 2 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr29:2,943,836...2,994,655
Ensembl chr29:2,943,919...2,994,700
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 chr 6:3,505,907...3,517,464
Ensembl chr 6:3,506,044...3,517,462
JBrowse link
G APC APC regulator of WNT signaling pathway ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr23:15,992,437...16,135,117
Ensembl chr23:16,042,287...16,137,067
JBrowse link
G ARHGAP6 Rho GTPase activating protein 6 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106
G ARSA arylsulfatase A ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr19:33,102,803...33,105,958
Ensembl chr19:33,100,117...33,105,926
JBrowse link
G ASMTL acetylserotonin O-methyltransferase like ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106
G ATCAY ATCAY kinesin light chain interacting caytaxin ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 6:3,643,754...3,678,864
Ensembl chr 6:3,643,793...3,675,263
JBrowse link
G ATP10B ATPase phospholipid transporting 10B (putative) ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr23:62,931,458...63,143,624
Ensembl chr23:62,931,078...63,051,383
JBrowse link
G AVEN apoptosis and caspase activation inhibitor ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr26:48,868,244...49,048,037
Ensembl chr26:48,868,475...49,050,258
JBrowse link
G AXL AXL receptor tyrosine kinase ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:25741868 PMID:28492532 PMID:32870266 NCBI chr 6:35,537,718...35,580,143
Ensembl chr 6:35,537,773...35,580,716
JBrowse link
G BCAP29 B cell receptor associated protein 29 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr21:76,501,128...76,539,491
Ensembl chr21:76,501,663...76,543,758
JBrowse link
G BMP15 bone morphogenetic protein 15 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr  X:47,713,434...47,722,818
Ensembl chr  X:47,713,957...47,719,777
JBrowse link
G BMP4 bone morphogenetic protein 4 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr24:31,097,673...31,104,774
Ensembl chr24:31,097,538...31,101,225
JBrowse link
G BNC1 basonuclin zinc finger protein 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr29:2,331,958...2,360,832
Ensembl chr29:2,349,650...2,360,804
JBrowse link
G BTBD1 BTB domain containing 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr29:2,580,373...2,636,988
Ensembl chr29:2,580,441...2,637,084
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 chr20:20,968,348...21,017,256
Ensembl chr20:20,969,828...20,991,971
JBrowse link
G CCDC148 coiled-coil domain containing 148 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr10:43,581,311...43,859,345
Ensembl chr10:43,582,307...43,768,387
JBrowse link
G CCSER1 coiled-coil serine rich protein 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 7:38,480,586...39,877,457 JBrowse link
G CDK13 cyclin dependent kinase 13 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr21:18,551,273...18,688,889
Ensembl chr21:18,553,446...18,688,525
JBrowse link
G CHAF1A chromatin assembly factor 1 subunit A ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 6:4,134,405...4,174,281
Ensembl chr 6:4,137,738...4,174,988
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 8:56,654,939...56,782,803
Ensembl chr 8:56,657,826...56,785,804
JBrowse link
G CNTLN centlein ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr12:62,157,153...62,511,938
Ensembl chr12:62,156,609...62,511,412
JBrowse link
G CPB2 carboxypeptidase B2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16167916 NCBI chr 3:24,108,854...24,161,669
Ensembl chr 3:24,109,416...24,161,408
JBrowse link
G CPEB1 cytoplasmic polyadenylation element binding protein 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr29:3,005,891...3,106,732
Ensembl chr29:3,006,532...3,106,793
JBrowse link
G CREB3L3 cAMP responsive element binding protein 3 like 3 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 6:3,905,774...3,922,623 JBrowse link
G CUNH15orf40 chromosome unknown C15orf40 homolog ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr29:2,641,930...2,652,387
Ensembl chr29:2,642,542...2,649,741
JBrowse link
G CYP17A1 cytochrome P450 family 17 subfamily A member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18645707 NCBI chr 9:95,870,098...95,877,345
Ensembl chr 9:95,866,908...95,877,180
JBrowse link
G CYP19A1 cytochrome P450 family 19 subfamily A member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8265607 NCBI chr26:32,074,260...32,164,926
Ensembl chr26:32,132,425...32,164,277
JBrowse link
G CYP2E1 cytochrome P450 family 2 subfamily E member 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr26:53,390,054...53,403,309
Ensembl chr26:53,390,089...53,404,211
JBrowse link
G DAPK3 death associated protein kinase 3 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 6:3,713,179...3,729,223
Ensembl chr 6:3,712,170...3,727,929
JBrowse link
G DCC DCC netrin 1 receptor ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:24808016 PMID:25741868 PMID:32870266 NCBI chr18:27,437,224...28,623,717
Ensembl chr18:27,442,489...28,212,697
JBrowse link
G DDX1 DEAD-box helicase 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr14:92,007,446...92,045,414
Ensembl chr14:92,007,036...92,045,190
JBrowse link
G DENND6A DENN domain containing 6A ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr22:18,925,960...18,993,689
Ensembl chr22:18,924,829...18,993,575
JBrowse link
G DIAPH2 diaphanous related formin 2 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr  X:85,130,928...86,035,944 JBrowse link
G DLC1 DLC1 Rho GTPase activating protein ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 8:11,211,230...11,632,278 JBrowse link
G DMXL2 Dmx like 2 ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:28492532 PMID:32870266 NCBI chr26:31,750,419...31,922,022
Ensembl chr26:31,750,403...31,922,208
JBrowse link
G DUSP19 dual specificity phosphatase 19 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr10:68,582,797...68,607,249
Ensembl chr10:68,583,314...68,610,537
JBrowse link
G DUSP22 dual specificity phosphatase 22 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr17:71,798,515...71,855,642
Ensembl chr17:71,799,014...71,855,601
JBrowse link
G EBI3 Epstein-Barr virus induced 3 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 6:3,975,805...3,985,389
Ensembl chr 6:3,976,228...3,984,962
JBrowse link
G EEF2 eukaryotic translation elongation factor 2 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 6:3,733,056...3,742,526
Ensembl chr 6:3,732,425...3,742,826
JBrowse link
G ERI1 exoribonuclease 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 8:9,936,951...10,055,407
Ensembl chr 8:10,023,909...10,055,405
JBrowse link
G FAM120B family with sequence similarity 120 member B ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr13:97,827,304...97,912,176
Ensembl chr13:97,829,758...97,912,116
JBrowse link
G FEZF1 FEZ family zinc finger 1 ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:32870266 NCBI chr21:91,099,660...91,110,242
Ensembl chr21:91,100,346...91,102,767
JBrowse link
G FGFR1 fibroblast growth factor receptor 1 ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:32870266 NCBI chr 8:36,426,116...36,485,683
Ensembl chr 8:36,427,110...36,485,508
JBrowse link
G FHIT fragile histidine triad diadenosine triphosphatase ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr22:21,006,010...22,474,056 JBrowse link
G FLRT3 fibronectin leucine rich transmembrane protein 3 ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:32870266 NCBI chr 2:43,252,181...43,267,981
Ensembl chr 2:43,255,347...43,257,296
JBrowse link
G FSD1 fibronectin type III and SPRY domain containing 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 6:4,042,375...4,059,579
Ensembl chr 6:4,042,500...4,059,600
JBrowse link
G FSD2 fibronectin type III and SPRY domain containing 2 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr29:2,848,391...2,898,644
Ensembl chr29:2,867,030...2,897,780
JBrowse link
G FSHB follicle stimulating hormone subunit beta ISO follicle-stimulating hormone deficiency,OMIM:229070;DNA:frameshift
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:8220432 RGD:1601221 NCBI chr 1:34,943,544...34,947,796
Ensembl chr 1:34,943,568...34,946,863
JBrowse link
G FSHR follicle stimulating hormone receptor ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:25741868 NCBI chr14:58,013,405...58,211,528
Ensembl chr14:58,013,742...58,212,755
JBrowse link
G FZD6 frizzled class receptor 6 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 8:98,154,173...98,187,864
Ensembl chr 8:98,154,196...98,188,069
JBrowse link
G GABRB2 gamma-aminobutyric acid type A receptor subunit beta2 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr23:63,636,094...63,894,587
Ensembl chr23:63,637,109...63,893,370
JBrowse link
G GADL1 glutamate decarboxylase like 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr15:75,237,681...75,407,007
Ensembl chr15:75,237,675...75,405,706
JBrowse link
G GNRH1 gonadotropin releasing hormone 1 ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:32870266 NCBI chr 8:23,543,717...23,550,728
Ensembl chr 8:23,542,806...23,547,771
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 7:1,205,294...1,225,105 JBrowse link
G GPBP1L1 GC-rich promoter binding protein 1 like 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr20:87,138,049...87,172,752
Ensembl chr20:87,140,045...87,173,424
JBrowse link
G GPR37L1 G protein-coupled receptor 37 like 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr25:27,276,393...27,283,231
Ensembl chr25:27,277,360...27,283,350
JBrowse link
G GTF2H2 general transcription factor IIH subunit 2 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 4:65,650,735...65,682,004 JBrowse link
G GXYLT1 glucoside xylosyltransferase 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr11:38,320,163...38,377,157
Ensembl chr11:38,321,991...38,377,166
JBrowse link
G HESX1 HESX homeobox 1 ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:21325470 PMID:23465708 PMID:24703149 PMID:25741868 PMID:28492532 More... NCBI chr22:18,517,067...18,546,882 JBrowse link
G HOMER2 homer scaffold protein 2 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr29:2,667,718...2,810,238
Ensembl chr29:2,706,134...2,803,372
JBrowse link
G IPP intracisternal A particle-promoted polypeptide ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr20:87,060,486...87,100,653
Ensembl chr20:87,061,075...87,099,415
JBrowse link
G KBTBD12 kelch repeat and BTB domain containing 12 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr22:53,058,678...53,128,987
Ensembl chr22:53,062,102...53,128,978
JBrowse link
G KL klotho ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:25741868 PMID:32870266 NCBI chr 3:11,755,015...11,799,537
Ensembl chr 3:11,755,016...11,797,596
JBrowse link
G KLB klotho beta ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:32870266 NCBI chr27:10,860,301...10,933,480
Ensembl chr27:10,861,760...10,903,400
JBrowse link
G LHX3 LIM homeobox 3 ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:32870266 NCBI chr12:1,997,437...2,007,473
Ensembl chr12:2,000,638...2,006,430
JBrowse link
G LOC103223791 T-cell surface glycoprotein CD1e, membrane-associated ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr20:5,573,905...5,588,338
Ensembl chr20:5,572,822...5,577,064
JBrowse link
G LOC103230910 histone-lysine N-methyltransferase SMYD3 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr25:82,794,748...83,531,942 JBrowse link
G LOC103234298 zinc finger protein 675 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 6:21,193,513...21,219,564 JBrowse link
G LOC103246654 NADPH--cytochrome P450 reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:14758361 NCBI chr28:10,145,070...10,230,836
Ensembl chr28:10,197,503...10,230,468
JBrowse link
G LRG1 leucine rich alpha-2-glycoprotein 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 6:4,272,231...4,275,060
Ensembl chr 6:4,272,214...4,274,460
JBrowse link
G LRIG2 leucine rich repeats and immunoglobulin like domains 2 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr20:20,523,713...20,575,577
Ensembl chr20:20,524,352...20,574,224
JBrowse link
G MACROD2 mono-ADP ribosylhydrolase 2 ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:32870266 NCBI chr 2:42,891,656...44,973,129 JBrowse link
G MAP2K2 mitogen-activated protein kinase kinase 2 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 6:3,848,441...3,881,367
Ensembl chr 6:3,848,401...3,881,412
JBrowse link
G MAST2 microtubule associated serine/threonine kinase 2 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr20:86,752,553...87,006,712
Ensembl chr20:86,752,703...87,006,697
JBrowse link
G MATK megakaryocyte-associated tyrosine kinase ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 6:3,533,363...3,542,034
Ensembl chr 6:3,533,236...3,542,011
JBrowse link
G MGLL monoglyceride lipase ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr22:53,092,970...53,354,316
Ensembl chr22:53,218,672...53,354,448
JBrowse link
G MOV10 Mov10 RNA helicase ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr20:20,939,052...20,966,843
Ensembl chr20:20,939,300...20,965,140
JBrowse link
G MPND MPN domain containing ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 6:4,072,007...4,090,524 JBrowse link
G MRPL54 mitochondrial ribosomal protein L54 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 6:3,518,333...3,523,178
Ensembl chr 6:3,518,028...3,523,186
JBrowse link
G MSL3 MSL complex subunit 3 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr  X:10,259,700...10,292,097
Ensembl chr  X:10,259,711...10,277,817
JBrowse link
G MYCN MYCN proto-oncogene, bHLH transcription factor ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr14:91,685,376...91,692,091 JBrowse link
G NAIP NLR family apoptosis inhibitory protein ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 4:65,693,044...65,742,527 JBrowse link
G NBAS NBAS subunit of NRZ tethering complex ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr14:92,045,416...92,475,079
Ensembl chr14:92,078,045...92,474,944
JBrowse link
G NCAM2 neural cell adhesion molecule 2 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 2:71,075,834...71,622,707
Ensembl chr 2:71,076,654...71,442,031
JBrowse link
G NCKAP5 NCK associated protein 5 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr10:16,942,009...18,232,033
Ensembl chr10:16,942,071...17,684,017
JBrowse link
G NKX2-6 NK2 homeobox 6 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 8:21,820,940...21,827,124
Ensembl chr 8:21,821,711...21,825,801
JBrowse link
G NKX3-1 NK3 homeobox 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 8:21,792,069...21,797,258
Ensembl chr 8:21,791,422...21,796,319
JBrowse link
G NMRK2 nicotinamide riboside kinase 2 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 6:3,685,337...3,697,868
Ensembl chr 6:3,688,166...3,697,960
JBrowse link
G NUP35 nucleoporin 35 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr10:68,648,503...68,685,143
Ensembl chr10:68,648,151...68,685,379
JBrowse link
G OCLN occludin ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 4:65,581,943...65,641,516
Ensembl chr 4:65,582,460...65,644,787
JBrowse link
G OTUD4 OTU deubiquitinase 4 ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:25741868 PMID:32870266 NCBI chr 7:91,709,184...91,756,437
Ensembl chr 7:91,708,767...91,756,793
JBrowse link
G P2RY8 P2Y receptor family member 8 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106
G PCSK5 proprotein convertase subtilisin/kexin type 5 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr12:86,907,173...87,367,935
Ensembl chr12:87,042,557...87,367,033
JBrowse link
G PIAS4 protein inhibitor of activated STAT 4 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 6:3,768,100...3,797,377 JBrowse link
G PLIN4 perilipin 4 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 6:4,232,908...4,247,248
Ensembl chr 6:4,229,480...4,246,905
JBrowse link
G PLIN5 perilipin 5 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 6:4,251,316...4,262,656
Ensembl chr 6:4,251,751...4,261,126
JBrowse link
G PNPLA4 patatin like phospholipase domain containing 4 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr  X:6,247,971...6,396,168
Ensembl chr  X:6,363,541...6,394,704
JBrowse link
G PNPLA6 patatin like phospholipase domain containing 6 ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:28492532 PMID:32870266 NCBI chr 6:7,030,802...7,056,664
Ensembl chr 6:7,032,445...7,056,661
JBrowse link
G POLR3B RNA polymerase III subunit B ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:22855961 PMID:25133958 PMID:25741868 PMID:27029625 PMID:27512013 More... NCBI chr11:101,577,134...101,719,214
Ensembl chr11:101,585,900...101,713,126
JBrowse link
G PPM1J protein phosphatase, Mg2+/Mn2+ dependent 1J ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr20:20,924,437...20,929,923
Ensembl chr20:20,924,571...20,929,749
JBrowse link
G PRKAA1 protein kinase AMP-activated catalytic subunit alpha 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 4:39,516,307...39,553,627 JBrowse link
G PRL prolactin ISO CTD Direct Evidence: marker/mechanism CTD PMID:6777091 NCBI chr17:49,922,750...49,938,084
Ensembl chr17:49,928,321...49,938,631
JBrowse link
G PROK2 prokineticin 2 ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:32870266 NCBI chr22:32,721,188...32,739,348 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 2:32,791,214...32,801,637
Ensembl chr 2:32,793,305...32,801,054
JBrowse link
G PROP1 PROP paired-like homeobox 1 ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:28492532 PMID:32870266 PMID:36407308 PMID:38096238 NCBI chr23:79,704,746...79,710,013
Ensembl chr23:79,705,287...79,708,566
JBrowse link
G PSMB1 proteasome 20S subunit beta 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr13:97,682,501...97,701,339
Ensembl chr13:97,682,369...97,701,799
JBrowse link
G PTCHD1 patched domain containing 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr  X:21,810,530...21,874,109
Ensembl chr  X:21,810,956...21,870,417
JBrowse link
G PUDP pseudouridine 5'-phosphatase ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr  X:5,209,256...5,603,342
Ensembl chr  X:5,490,918...5,602,382
JBrowse link
G RAB3GAP1 RAB3 GTPase activating protein catalytic subunit 1 ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:32870266 NCBI chr10:19,295,294...19,401,595
Ensembl chr10:19,295,351...19,402,212
JBrowse link
G RAB3GAP2 RAB3 GTPase activating non-catalytic protein subunit 2 ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:25741868 PMID:28492532 PMID:32870266 NCBI chr25:9,293,791...9,411,950
Ensembl chr25:9,293,838...9,415,319
JBrowse link
G RAMAC RNA guanine-7 methyltransferase activating subunit ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr29:2,652,843...2,667,718 JBrowse link
G RAX2 retina and anterior neural fold homeobox 2 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 6:3,524,725...3,528,361
Ensembl chr 6:3,526,250...3,527,354
JBrowse link
G RHOC ras homolog family member C ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr20:20,932,533...20,938,703
Ensembl chr20:20,936,018...20,938,284
JBrowse link
G RREB1 ras responsive element binding protein 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr17:64,938,831...65,084,975
Ensembl chr17:64,938,800...65,009,057
JBrowse link
G SEMA3A semaphorin 3A ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:22927827 PMID:25741868 PMID:28492532 PMID:32870266 NCBI chr21:64,723,860...64,942,705
Ensembl chr21:64,784,039...64,939,682
JBrowse link
G SEMA3E semaphorin 3E ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:25741868 PMID:28492532 PMID:32870266 NCBI chr21:65,255,610...65,529,021
Ensembl chr21:65,415,373...65,533,090
JBrowse link
G SEMA6B semaphorin 6B ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 6:4,276,548...4,304,738 JBrowse link
G SERF1A small EDRK-rich factor 1A ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 Ensembl chr 4:65,802,600...65,809,714 JBrowse link
G SH3GL1 SH3 domain containing GRB2 like 1, endophilin A2 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 6:4,090,800...4,130,566
Ensembl chr 6:4,091,359...4,130,578
JBrowse link
G SH3GL3 SH3 domain containing GRB2 like 3, endophilin A3 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr29:2,009,833...2,177,843
Ensembl chr29:2,009,776...2,177,747
JBrowse link
G SHANK3 SH3 and multiple ankyrin repeat domains 3 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr19:33,155,695...33,209,679
Ensembl chr19:33,155,770...33,208,224
JBrowse link
G SHD Src homology 2 domain containing transforming protein D ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 6:4,021,013...4,030,904
Ensembl chr 6:4,022,494...4,030,812
JBrowse link
G SIRT6 sirtuin 6 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 6:3,924,230...3,932,583
Ensembl chr 6:3,924,230...3,932,590
JBrowse link
G SLC16A1 solute carrier family 16 member 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr20:20,694,222...20,741,542
Ensembl chr20:20,727,199...20,739,979
JBrowse link
G SLC5A5 solute carrier family 5 member 5 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 6:16,346,361...16,367,833 JBrowse link
G SLMAP sarcolemma associated protein ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr22:19,054,322...19,231,037
Ensembl chr22:19,054,673...19,232,336
JBrowse link
G SOX2 SRY-box transcription factor 2 ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:28492532 PMID:32870266 NCBI chr15:7,673,581...7,676,812
Ensembl chr15:7,674,867...7,675,826
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 chr23:44,931,967...44,946,838 JBrowse link
G STAP2 signal transducing adaptor family member 2 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 6:4,059,794...4,065,594 JBrowse link
G STS steroid sulfatase ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr  X:5,601,746...5,813,916
Ensembl chr  X:5,709,410...5,812,224
JBrowse link
G SYCE1 synaptonemal complex central element protein 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr26:53,416,791...53,429,688
Ensembl chr26:53,418,202...53,428,756
JBrowse link
G TACR3 tachykinin receptor 3 ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:32870266 NCBI chr 7:51,662,248...51,764,058
Ensembl chr 7:51,665,147...51,762,390
JBrowse link
G TAFA3 TAFA chemokine like family member 3 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr20:20,912,338...20,920,525
Ensembl chr20:20,915,648...20,917,564
JBrowse link
G TBP TATA-box binding protein ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr13:97,661,905...97,678,640
Ensembl chr13:97,660,864...97,681,497
JBrowse link
G TJP3 tight junction protein 3 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 6:3,474,639...3,505,801
Ensembl chr 6:3,481,060...3,505,678
JBrowse link
G TM6SF1 transmembrane 6 superfamily member 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr29:2,508,945...2,538,820
Ensembl chr29:2,506,017...2,538,932
JBrowse link
G TMEM69 transmembrane protein 69 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr20:87,105,289...87,111,450
Ensembl chr20:87,105,508...87,108,728
JBrowse link
G TMIGD2 transmembrane and immunoglobulin domain containing 2 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 6:4,032,790...4,040,261
Ensembl chr 6:4,032,715...4,039,987
JBrowse link
G TP63 tumor protein p63 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr15:83,861,489...84,126,675 JBrowse link
G TSHZ2 teashirt zinc finger homeobox 2 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 2:10,534,064...10,755,420
Ensembl chr 2:10,751,240...10,754,329
JBrowse link
G UBXN6 UBX domain protein 6 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 6:4,175,858...4,188,687
Ensembl chr 6:4,175,108...4,188,649
JBrowse link
G VLDLR very low density lipoprotein receptor ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr12:76,900,551...76,933,601
Ensembl chr12:76,899,189...76,933,584
JBrowse link
G WDR11 WD repeat domain 11 ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:32870266 NCBI chr 9:113,631,153...113,687,575
Ensembl chr 9:113,631,401...113,687,574
JBrowse link
G WDR37 WD repeat domain 37 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 9:1,011,478...1,085,569
Ensembl chr 9:1,011,726...1,082,773
JBrowse link
G WHAMM WASP homolog associated with actin, golgi membranes and microtubules ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr29:2,819,140...2,843,292
Ensembl chr29:2,819,367...2,843,144
JBrowse link
G XPO1 exportin 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr14:45,428,279...45,487,965
Ensembl chr14:45,432,619...45,488,723
JBrowse link
G YAF2 YY1 associated factor 2 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr11:38,391,203...38,469,679 JBrowse link
G YJU2 YJU2 splicing factor homolog ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 6:3,995,769...4,013,288 JBrowse link
G ZBTB7A zinc finger and BTB domain containing 7A ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 6:3,802,171...3,824,552
Ensembl chr 6:3,801,046...3,812,884
JBrowse link
G ZFR2 zinc finger RNA binding protein 2 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 6:3,560,845...3,626,581
Ensembl chr 6:3,560,961...3,591,183
JBrowse link
G ZNF124 zinc finger protein 124 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr25:84,190,729...84,213,552 JBrowse link
G ZNF217 zinc finger protein 217 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 2:10,427,584...10,455,308
Ensembl chr 2:10,439,082...10,450,670
JBrowse link
G ZNF669 zinc finger protein 669 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106
G ZNF670 zinc finger protein 670 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr25:84,082,881...84,117,947 JBrowse link
G ZNF695 zinc finger protein 695 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr25:84,034,879...84,061,676 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 chr10:113,815,099...113,836,562
Ensembl chr10:113,832,573...113,835,736
JBrowse link
G CD8A CD8 subunit alpha ISO mRNA:decreased expression:zone of skin (human) RGD PMID:25774455 RGD:36174028 NCBI chr14:18,878,013...18,885,183
Ensembl chr14:18,878,622...18,883,885
JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr10:89,637,176...89,644,436
Ensembl chr10:89,638,314...89,642,344
JBrowse link
G FOXP3 forkhead box P3 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr  X:46,349,890...46,365,133 JBrowse link
G IL10 interleukin 10 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr25:22,590,389...22,595,877
Ensembl chr25:22,590,962...22,594,836
JBrowse link
G IL12B interleukin 12B treatment ISO protein:decreased expression:peripheral blood mononuclear cells (human) RGD PMID:16114559 PMID:23754510 RGD:40400714 RGD:7829774 NCBI chr23:61,714,293...61,731,835 JBrowse link
G IL2 interleukin 2 ISO protein:decreased expression:peripheral blood mononuclear cells (human) RGD PMID:23754510 RGD:40400714 NCBI chr 7:69,729,635...69,736,279
Ensembl chr 7:69,730,282...69,734,969
JBrowse link
G IL21 interleukin 21 ISO protein:decreased expression:blood serum (human) RGD PMID:31414711 RGD:127285371 NCBI chr 7:69,859,793...69,872,237
Ensembl chr 7:69,863,535...69,872,025
JBrowse link
G IL4 interleukin 4 treatment ISO protein:increased expression:peripheral blood mononuclear cells (human) RGD PMID:16114559 PMID:23754510 RGD:40400714 RGD:7829774 NCBI chr23:35,492,158...35,501,349
Ensembl chr23:35,492,939...35,501,258
JBrowse link
G IL6 interleukin 6 ISO protein:decreased expression:peripheral blood mononuclear cells (human) RGD PMID:23754510 RGD:40400714 NCBI chr21:35,577,513...35,582,385
Ensembl chr21:35,577,939...35,582,237
JBrowse link
G MAPK8 mitogen-activated protein kinase 8 treatment ISO mRNA:increased expression:zone of skin (human) RGD PMID:25774455 RGD:36174028 NCBI chr 9:43,356,603...43,489,066
Ensembl chr 9:43,356,308...43,393,425
JBrowse link
G MYD88 MYD88 innate immune signal transduction adaptor ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr15:1,276,804...1,281,811
Ensembl chr15:1,276,798...1,281,166
JBrowse link
G NCR1 natural cytotoxicity triggering receptor 1 ISO mRNA,protein:decreased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 6:47,521,488...47,527,713
Ensembl chr 6:47,521,956...47,530,961
JBrowse link
G PDCD1 programmed cell death 1 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr10:127,877,383...127,886,234
Ensembl chr10:127,878,554...127,886,088
JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 ISO protein:increased expression:foreskin RGD PMID:18543080 RGD:39128248 NCBI chr11:107,658,495...107,754,457
Ensembl chr11:107,658,453...107,752,637
JBrowse link
G PTPN6 protein tyrosine phosphatase non-receptor type 6 ISO protein:increased expression:foreskin RGD PMID:18543080 RGD:39128248 NCBI chr11:6,977,480...6,994,525
Ensembl chr11:6,984,710...6,994,545
JBrowse link
G SERPINF1 serpin family F member 1 disease_progression ISO mRNA, protein:decreased expression:skin of body (human) RGD PMID:23569025 RGD:27226706 NCBI chr16:1,408,453...1,424,197 JBrowse link
G TGFB1 transforming growth factor beta 1 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 6:35,651,583...35,674,387
Ensembl chr 6:35,648,677...35,674,365
JBrowse link
G TLR2 toll like receptor 2 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 7:100,239,533...100,565,955
Ensembl chr 7:100,258,441...100,260,795
JBrowse link
G TLR3 toll like receptor 3 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 7:131,991,068...132,014,366
Ensembl chr 7:131,991,029...132,016,232
JBrowse link
G TLR4 toll like receptor 4 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr12:21,873,762...21,885,562
Ensembl chr12:21,871,773...21,885,515
JBrowse link
G TLR7 toll like receptor 7 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr  X:11,348,520...11,372,132 JBrowse link
G TLR8 toll like receptor 8 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr  X:11,387,933...11,405,056
Ensembl chr  X:11,400,907...11,404,029
JBrowse link
G TNF tumor necrosis factor ISO protein:increased expression:peripheral blood mononuclear cells (human) RGD PMID:23754510 RGD:40400714
G TNFRSF18 TNF receptor superfamily member 18 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr20:130,237,950...130,243,303
Ensembl chr20:130,225,847...130,242,251
JBrowse link
anovulation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC103230356 uncharacterized LOC103230356 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18628394 NCBI chr25:29,230,358...29,380,617
Ensembl chr25:29,233,558...29,379,922
JBrowse link
Anterior Diaphragmatic Hernia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PLS3 plastin 3 ISO ClinVar Annotator: match by term: Hernia, anterior diaphragmatic OMIM
ClinVar
PMID:25741868 PMID:37751738
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 chr 1:11,198,033...11,216,709
Ensembl chr 1:11,200,356...11,216,622
JBrowse link
G CFAP251 cilia and flagella associated protein 251 ISO ClinVar Annotator: match by term: asthenozoospermia ClinVar PMID:30122541 NCBI chr11:117,280,921...117,356,668 JBrowse link
G FAM83F family with sequence similarity 83 member F ISO ClinVar Annotator: match by term: asthenozoospermia ClinVar PMID:25741868 NCBI chr19:22,572,387...22,606,348
Ensembl chr19:22,572,483...22,605,897
JBrowse link
G PLAU plasminogen activator, urokinase ISO mRNA, protein:decreased expression:testes, epididymis (rat)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:18998460 RGD:7241809 NCBI chr 9:57,452,904...57,459,345
Ensembl chr 9:57,452,761...57,459,286
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:17,428,416...17,573,497
Ensembl chr  X:17,427,532...17,468,812
JBrowse link
G CFTR CF transmembrane conductance regulator ISO ClinVar Annotator: match by term: Congenital bilateral aplasia of vas deferens from CFTR mutation OMIM
ClinVar
PMID:754013 PMID:1282016 PMID:1283148 PMID:1283149 PMID:1284466 More... NCBI chr21:86,154,313...86,332,436 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 7:60,096,755...60,233,569
Ensembl chr 7:60,202,204...60,236,743
JBrowse link
G ANK2 ankyrin 2 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr 7:60,487,776...61,174,351
Ensembl chr 7:60,938,523...61,175,519
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 7:60,029,576...60,069,199
Ensembl chr 7:60,052,140...60,071,815
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 7:59,953,872...59,983,789
Ensembl chr 7:59,953,976...59,984,360
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 7:60,407,137...60,429,885
Ensembl chr 7:60,406,618...60,430,080
JBrowse link
G NEUROG2 neurogenin 2 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr 7:60,296,442...60,299,093
Ensembl chr 7:60,297,586...60,298,404
JBrowse link
G PITX2 paired like homeodomain 2 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 OMIM
ClinVar
PMID:8944018 PMID:9536098 PMID:9685346 PMID:10490637 PMID:11301317 More... NCBI chr 7:58,501,669...58,526,413
Ensembl chr 7:58,501,559...58,507,318
JBrowse link
G PRDM5 PR/SET domain 5 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:26489929 NCBI chr 7:67,985,387...68,207,113
Ensembl chr 7:67,987,359...68,206,893
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 7:60,074,764...60,085,029
Ensembl chr 7:60,076,999...60,077,556
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 7:60,322,709...60,407,026
Ensembl chr 7:60,322,750...60,403,124
JBrowse link
azoospermia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALB albumin ISO CTD Direct Evidence: therapeutic CTD PMID:27289041 NCBI chr 7:21,872,036...21,890,095
Ensembl chr 7:21,876,132...21,891,407
JBrowse link
G BCL2 BCL2 apoptosis regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:20610805 NCBI chr18:16,440,560...16,643,187
Ensembl chr18:16,441,733...16,637,895
JBrowse link
G BRDT bromodomain testis associated susceptibility ISO DNA:SNP: :rs3088232(human)
protein:decreased expression:testis:
RGD PMID:22016351 PMID:22035730 RGD:9586359 RGD:9586360 NCBI chr20:41,229,493...41,293,899
Ensembl chr20:41,229,643...41,280,341
JBrowse link
G BSCL2 BSCL2 lipid droplet biogenesis associated, seipin ISO RGD PMID:25934999 RGD:11085488 NCBI chr 1:11,198,033...11,216,709
Ensembl chr 1:11,200,356...11,216,622
JBrowse link
G CFTR CF transmembrane conductance regulator ISO ClinVar Annotator: match by term: Obstructive azoospermia ClinVar PMID:1283148 PMID:1284534 PMID:1284535 PMID:1284639 PMID:1370875 More... NCBI chr21:86,154,313...86,332,436 JBrowse link
G CUNH14orf39 chromosome unknown C14orf39 homolog ISO ClinVar Annotator: match by term: Azoospermia ClinVar PMID:33508233 NCBI chr24:37,596,061...37,707,136
Ensembl chr24:37,626,089...37,676,361
JBrowse link
G DDX25 DEAD-box helicase 25 ISO ClinVar Annotator: match by term: Azoospermia ClinVar NCBI chr 1:117,035,171...117,053,726
Ensembl chr 1:117,035,310...117,053,494
JBrowse link
G DMC1 DNA meiotic recombinase 1 ISO ClinVar Annotator: match by term: Azoospermia ClinVar NCBI chr19:21,179,495...21,230,078
Ensembl chr19:21,180,194...21,228,120
JBrowse link
G EPAS1 endothelial PAS domain protein 1 ISO RGD PMID:14608355 RGD:734934 NCBI chr14:60,823,110...60,912,804
Ensembl chr14:60,822,815...60,912,785
JBrowse link
G ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit susceptibility ISO DNA:snp:3' utr:c.8092C>A (human) RGD PMID:18616887 RGD:13207429 NCBI chr 6:38,857,067...38,900,177
Ensembl chr 6:38,854,803...38,872,967
JBrowse link
G FAHD1 fumarylacetoacetate hydrolase domain containing 1 ISO ClinVar Annotator: match by term: Azoospermia ClinVar NCBI chr 5:1,731,150...1,732,086
Ensembl chr 5:1,731,239...1,731,913
JBrowse link
G FANCM FA complementation group M ISO ClinVar Annotator: match by term: Azoospermia ClinVar PMID:17289582 PMID:18174376 PMID:19379763 PMID:23409019 PMID:23932590 More... NCBI chr24:22,255,750...22,327,191
Ensembl chr24:22,256,236...22,329,609
JBrowse link
G GCNA germ cell nuclear acidic peptidase ISO ClinVar Annotator: match by term: Azoospermia ClinVar PMID:35172124 NCBI chr  X:61,395,585...61,428,773 JBrowse link
G GOPC golgi associated PDZ and coiled-coil motif containing ISO OMIM:102530 | OMIM:108420 | OMIM:243060 | OMIM:258150 | OMIM:270960 | OMIM:309120 | OMIM:415000 | OMIM:606766 | OMIM:612997 | OMIM:613957 | OMIM:613958 | OMIM:614822 | OMIM:615081 | OMIM:615413 | OMIM:615841 | OMIM:615842 MouseDO NCBI chr13:56,229,780...56,270,829
Ensembl chr13:56,229,810...56,272,830
JBrowse link
G HENMT1 HEN methyltransferase 1 ISO ClinVar Annotator: match by term: Azoospermia ClinVar NCBI chr20:24,920,224...24,936,429
Ensembl chr20:24,921,611...24,936,419
JBrowse link
G HSD17B10 hydroxysteroid 17-beta dehydrogenase 10 ISO mRNA:increased expression:testis RGD PMID:9851691 RGD:13792783 NCBI chr  X:49,568,206...49,571,356
Ensembl chr  X:49,567,267...49,571,292
JBrowse link
G KASH5 KASH domain containing 5 ISO ClinVar Annotator: match by term: Azoospermia ClinVar NCBI chr 6:42,561,606...42,599,442 JBrowse link
G LOC103224451 helicase for meiosis 1 ISO ClinVar Annotator: match by term: Azoospermia ClinVar NCBI chr20:41,837,289...41,957,302 JBrowse link
G MCM8 minichromosome maintenance 8 homologous recombination repair factor ISO ClinVar Annotator: match by term: Azoospermia ClinVar NCBI chr 2:32,137,983...32,181,187
Ensembl chr 2:32,138,173...32,181,179
JBrowse link
G MCMDC2 minichromosome maintenance domain containing 2 ISO ClinVar Annotator: match by term: Azoospermia ClinVar NCBI chr 8:62,742,176...62,790,994
Ensembl chr 8:62,745,855...62,790,143
JBrowse link
G MEIOB meiosis specific with OB-fold ISO ClinVar Annotator: match by term: Azoospermia ClinVar NCBI chr 5:1,738,250...1,779,412
Ensembl chr 5:1,738,275...1,773,727
JBrowse link
G MOV10L1 Mov10 like RNA helicase 1 ISO ClinVar Annotator: match by term: Azoospermia ClinVar NCBI chr19:32,586,652...32,653,563
Ensembl chr19:32,587,008...32,653,886
JBrowse link
G MSH5 mutS homolog 5 ISO ClinVar Annotator: match by term: Azoospermia ClinVar NCBI chr17:40,260,979...40,283,872
Ensembl chr17:40,261,125...40,282,511
JBrowse link
G PDHA2 pyruvate dehydrogenase E1 subunit alpha 2 ISO ClinVar Annotator: match by term: Azoospermia ClinVar PMID:29581481 PMID:35172124 NCBI chr 7:44,056,991...44,058,705
Ensembl chr 7:44,057,352...44,058,518
JBrowse link
G REC8 REC8 meiotic recombination protein ISO ClinVar Annotator: match by term: Azoospermia ClinVar NCBI chr24:1,157,135...1,165,927 JBrowse link
G SYCP3 synaptonemal complex protein 3 ISO CTD Direct Evidence: marker/mechanism
OMIM:102530 | OMIM:108420 | OMIM:243060 | OMIM:258150 | OMIM:270960 | OMIM:309120 | OMIM:415000 | OMIM:606766 | OMIM:612997 | OMIM:613957 | OMIM:613958 | OMIM:614822 | OMIM:615081 | OMIM:615413 | OMIM:615841 | OMIM:615842
CTD
MouseDO
PMID:14643120 NCBI chr11:96,980,937...96,992,225 JBrowse link
G TDRD9 tudor domain containing 9 ISO ClinVar Annotator: match by term: Azoospermia ClinVar NCBI chr24:81,864,846...81,992,674
Ensembl chr24:81,866,235...81,992,093
JBrowse link
G TDRKH tudor and KH domain containing ISO ClinVar Annotator: match by term: Azoospermia ClinVar NCBI chr20:11,895,882...11,916,981
Ensembl chr20:11,896,380...11,916,031
JBrowse link
G TERB1 telomere repeat binding bouquet formation protein 1 ISO ClinVar Annotator: match by term: Azoospermia ClinVar NCBI chr 5:52,451,929...52,502,628
Ensembl chr 5:52,452,079...52,500,948
JBrowse link
AZOOSPERMIA, OBSTRUCTIVE, WITH NEPHROLITHIASIS term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLDN2 claudin 2 ISO ClinVar Annotator: match by term: Azoospermia, obstructive, with nephrolithiasis OMIM
ClinVar
PMID:31320686 NCBI chr  X:94,752,552...94,762,247 JBrowse link
bacterial vaginosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MBL2 mannose binding lectin 2 ISO DNA:SNP:cds: RGD PMID:17470593 RGD:8693700 NCBI chr 9:78,389,534...78,394,753
Ensembl chr 9:78,389,947...78,396,079
JBrowse link
Blepharophimosis Syndrome Type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FOXL2 forkhead box L2 ISO ClinVar Annotator: match by term: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE I | ClinVar Annotator: match by term: Blepharophimosis, ptosis, epicanthus inversus type 1 ClinVar PMID:11175783 PMID:11468277 PMID:11776388 PMID:12400065 PMID:12529855 More... NCBI chr15:51,595,806...51,598,124
Ensembl chr15:51,596,218...51,597,348
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 1:93,721,449...93,746,638 JBrowse link
G BIRC3 baculoviral IAP repeat containing 3 ISO mRNA:increased expression:perianal skin (human) RGD PMID:20346172 RGD:152998971 NCBI chr 1:93,692,239...93,711,905 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 chr20:17,937,089...18,008,433
Ensembl chr20:17,937,524...18,008,786
JBrowse link
G CDX2 caudal type homeobox 2 ISO ClinVar Annotator: match by term: Sirenomelia ClinVar PMID:25741868 NCBI chr 3:7,080,142...7,088,010
Ensembl chr 3:7,078,503...7,087,285
JBrowse link
G PCSK5 proprotein convertase subtilisin/kexin type 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18519639 NCBI chr12:86,907,173...87,367,935
Ensembl chr12:87,042,557...87,367,033
JBrowse link
G RYR1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Agenesis of sacrum ClinVar PMID:18564 PMID:9497245 PMID:10484775 PMID:11575529 PMID:12059893 More... NCBI chr 6:33,080,443...33,234,478
Ensembl chr 6:33,080,758...33,213,788
JBrowse link
G VANGL1 VANGL planar cell polarity protein 1 susceptibility ISO ClinVar Annotator: match by term: Caudal regression sequence | ClinVar Annotator: match by term: Sacral defect with anterior meningocele ClinVar
OMIM
PMID:17409324 PMID:19319979 PMID:22892949 PMID:24033266 PMID:24307374 More...
G ZBTB16 zinc finger and BTB domain containing 16 ISO RGD PMID:27727328 RGD:40924666 NCBI chr 1:105,446,067...105,648,771
Ensembl chr 1:105,449,994...105,643,344
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 chr23:50,365,686...50,373,300
Ensembl chr23:50,365,269...50,372,814
JBrowse link
G TFF1 trefoil factor 1 ISO mRNA, protein:increased expression:uterine cervix RGD PMID:10727981 RGD:2298570 NCBI chr 2:86,239,101...86,244,491
Ensembl chr 2:86,239,105...86,243,795
JBrowse link
G TFRC transferrin receptor ISO protein:increased expression:uterine cervix RGD PMID:9739406 RGD:2292022 NCBI chr15:91,102,153...91,134,994
Ensembl chr15:91,102,817...91,135,584
JBrowse link
G TP53 tumor protein p53 disease_progression ISO RGD PMID:17354237 RGD:2298527 NCBI chr16:7,047,686...7,065,567
Ensembl chr16:7,045,146...7,066,223
JBrowse link
cervical cancer term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANG angiogenin ISO protein:increased expression:serum RGD PMID:11299848 RGD:2325708 NCBI chr29:21,215,985...21,226,927 JBrowse link
G APEX1 apurinic/apyrimidinic endodeoxyribonuclease 1 ISO DNA:polymorphism: :p.D148E (human) RGD PMID:18503157 PMID:19292061 RGD:2315657 RGD:2315662 NCBI chr29:20,978,878...20,981,393 JBrowse link
G API5 apoptosis inhibitor 5 disease_progression ISO mRNA:increased expression RGD PMID:10780674 RGD:1643340 NCBI chr 1:22,029,723...22,064,553
Ensembl chr 1:22,034,317...22,064,541
JBrowse link
G BCL2L1 BCL2 like 1 ISO protein:increased expression:uterine cervix RGD PMID:17311011 RGD:1643476 NCBI chr 2:36,059,024...36,118,332
Ensembl chr 2:36,058,919...36,116,470
JBrowse link
G BIRC2 baculoviral IAP repeat containing 2 ISO mRNA:decreased expression:uterine cervix RGD PMID:16504151 RGD:1643527 NCBI chr 1:93,721,449...93,746,638 JBrowse link
G BRCA1 BRCA1 DNA repair associated disease_progression ISO DNA:hypermethylation:promoter RGD PMID:12773202 RGD:2298941 NCBI chr16:63,162,827...63,243,928 JBrowse link
G BRIP1 BRCA1 interacting DNA helicase 1 ISO ClinVar Annotator: match by term: Cervical cancer ClinVar PMID:18483852 PMID:25741868 PMID:26467025 PMID:26790966 PMID:28492532 More... NCBI chr16:32,909,226...33,085,551
Ensembl chr16:32,910,693...33,082,587
JBrowse link
G BSG basigin (Ok blood group) disease_progression ISO RGD PMID:18223224 RGD:2296028 NCBI chr 6:309,579...320,209
Ensembl chr 6:309,506...321,785
JBrowse link
G CASP3 caspase 3 ISO RGD PMID:18177927 RGD:2298948 NCBI chr 7:130,589,592...130,610,845
Ensembl chr 7:130,591,166...130,610,899
JBrowse link
G CCNB1 cyclin B1 ISO mRNA, protein:increased expression:uterine cervix RGD PMID:16614707 RGD:2315938 NCBI chr 4:65,265,798...65,276,465
Ensembl chr 4:65,265,844...65,277,085
JBrowse link
G CD55 CD55 molecule (Cromer blood group) ISO RGD PMID:9358772 RGD:2293549 NCBI chr25:22,055,138...22,092,472
Ensembl chr25:22,073,629...22,092,173
JBrowse link
G CDC25A cell division cycle 25A ISO RGD PMID:18299147 RGD:2296067 NCBI chr22:9,534,114...9,564,927
Ensembl chr22:9,534,053...9,564,741
JBrowse link
G CDC25C cell division cycle 25C ISO RGD PMID:15289842 RGD:4105450 NCBI chr23:40,960,154...41,013,016
Ensembl chr23:40,960,572...41,006,984
JBrowse link
G CDH13 cadherin 13 ISO DNA:hypermethylation:promoter RGD PMID:17548682 RGD:2293543 NCBI chr 5:68,048,655...69,213,102
Ensembl chr 5:68,451,894...69,211,534
JBrowse link
G CDK1 cyclin dependent kinase 1 ISO RGD PMID:18299147 RGD:2296067 NCBI chr 9:70,475,736...70,492,947 JBrowse link
G EBAG9 estrogen receptor binding site associated antigen 9 disease_progression ISO protein:increased expression:uterine cervix RGD PMID:16112176 RGD:2289851 NCBI chr 8:104,240,197...104,266,768
Ensembl chr 8:104,251,418...104,264,703
JBrowse link
G ERBB4 erb-b2 receptor tyrosine kinase 4 ISO protein:increased expression: uterine cervix, cytoplasm RGD PMID:28042953 RGD:126790468 NCBI chr10:97,099,090...98,281,697 JBrowse link
G FANCA FA complementation group A no_association ISO DNA:SNP: :rs11649196 (human)
DNA:SNPs, haplotypes: :[rs2239359, rs7190823, rs7195066 (human)
RGD PMID:19012493 PMID:21543111 RGD:11344886 RGD:11344901 NCBI chr 5:75,073,161...75,149,110
Ensembl chr 5:75,073,358...75,148,591
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 chr27:46,958,444...46,974,032
Ensembl chr27:46,957,254...46,973,392
JBrowse link
G HNRNPC heterogeneous nuclear ribonucleoprotein C ISO protein:increased expression:cervical epithelium (human) RGD PMID:19319956 RGD:10054394 NCBI chr29:21,677,871...21,737,607
Ensembl chr29:21,678,559...21,731,430
JBrowse link
G HOXB13 homeobox B13 ISO mRNA:increased expression:uterine cervix RGD PMID:16803519 RGD:2314728 NCBI chr16:69,137,561...69,141,615
Ensembl chr16:69,137,585...69,139,382
JBrowse link
G HSPA8 heat shock protein family A (Hsp70) member 8 ISO Protein: increased expression RGD PMID:21137014 RGD:6218976 NCBI chr 1:114,447,348...114,452,693
Ensembl chr 1:114,446,544...114,451,562
JBrowse link
G IL10 interleukin 10 disease_progression ISO protein:increased expression:serum RGD PMID:9541628 RGD:2317658 NCBI chr25:22,590,389...22,595,877
Ensembl chr25:22,590,962...22,594,836
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 chr14:15,844,628...15,852,652
Ensembl chr14:15,844,672...15,850,729
JBrowse link
G KDM3A lysine demethylase 3A severity ISO human gene in a mouse model RGD PMID:23492365 RGD:9590219 NCBI chr14:20,668,215...20,721,854
Ensembl chr14:20,668,821...20,720,759
JBrowse link
G KMT2A lysine methyltransferase 2A ISO human gene in a mouse model RGD PMID:22926525 RGD:9588221 NCBI chr 1:109,819,748...109,912,763
Ensembl chr 1:109,853,758...109,908,113
JBrowse link
G KMT2E lysine methyltransferase 2E (inactive) ISO human gene in a mouse model RGD PMID:25172963 RGD:9588553 NCBI chr21:73,930,957...74,030,434
Ensembl chr21:73,930,932...74,029,673
JBrowse link
G LOC103224275 glutathione S-transferase Mu 1 susceptibility ISO RGD PMID:18177825 RGD:2293825 NCBI chr20:23,854,969...23,861,634 JBrowse link
G MACC1 MET transcriptional regulator MACC1 ISO mRNA:increased expression:cervical region (human) RGD PMID:33603486 RGD:152999025 NCBI chr21:38,015,409...38,091,907 JBrowse link
G MAP2K3 mitogen-activated protein kinase kinase 3 treatment ISO RGD PMID:20980434 RGD:7495806 NCBI chr16:19,396,377...19,427,617
Ensembl chr16:19,396,452...19,427,652
JBrowse link
G MAP2K6 mitogen-activated protein kinase kinase 6 ISO RGD PMID:20980434 RGD:7495806 NCBI chr16:52,045,398...52,188,416
Ensembl chr16:52,057,784...52,187,997
JBrowse link
G MDC1 mediator of DNA damage checkpoint 1 ISO mRNA, protein:increased expression:uterine cervix (human) RGD PMID:21853275 RGD:9589052 NCBI chr17:41,735,584...41,754,618
Ensembl chr17:41,739,419...41,755,141
JBrowse link
G MED4 mediator complex subunit 4 severity ISO mRNA:decreased expression:uterine cervix (human) RGD PMID:19911042 RGD:12880436 NCBI chr 3:25,990,203...26,009,472
Ensembl chr 3:25,990,159...26,009,438
JBrowse link
G MHC-DPB1 major histocompatibility complex, class II, DP beta 1 susceptibility ISO DNA:polymorphism: :HLA-DPB1*1301 (human) RGD PMID:17349874 RGD:150429811 NCBI chr17:38,996,329...39,007,097 JBrowse link
G MMP1 matrix metallopeptidase 1 disease_progression ISO DNA:insertion:promoter:g.-1607insG (human) RGD PMID:14550952 RGD:7207024 NCBI chr 1:94,167,507...94,177,357
Ensembl chr 1:94,167,219...94,176,767
JBrowse link
G MMP13 matrix metallopeptidase 13 ISO mRNA:increased expression:uterine cervix RGD PMID:17243165 RGD:2306082 NCBI chr 1:94,322,473...94,370,665
Ensembl chr 1:94,322,979...94,334,747
JBrowse link
G MTHFR methylenetetrahydrofolate reductase susceptibility ISO DNA:missense mutation:cds:g.1298A>C (human) RGD PMID:27771518 RGD:38501051 NCBI chr20:119,987,667...120,003,611
Ensembl chr20:119,990,133...120,002,950
JBrowse link
G NDUFS6 NADH:ubiquinone oxidoreductase subunit S6 disease_progression ISO DNA, mRNA:amplification, increased expression:uterine cervix RGD PMID:18559093 RGD:2302384 NCBI chr 4:1,643,810...1,658,651
Ensembl chr 4:1,643,822...1,658,858
JBrowse link
G NRAS NRAS proto-oncogene, GTPase ISO mRNA:increased expression:uterine cervix RGD PMID:14984964 RGD:2314838 NCBI chr20:18,953,273...18,966,002
Ensembl chr20:18,953,883...18,961,931
JBrowse link
G PGM3 phosphoglucomutase 3 ISO RGD PMID:508567 RGD:2299870 NCBI chr13:7,841,724...7,871,013
Ensembl chr13:7,844,765...7,871,002
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 chr13:88,856,056...90,329,379 JBrowse link
G PTK2 protein tyrosine kinase 2 disease_progression ISO RGD PMID:16638855 RGD:2292556 NCBI chr 8:134,897,511...135,246,300 JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 ISO protein:increased expression:foreskin RGD PMID:18543080 RGD:39128248 NCBI chr11:107,658,495...107,754,457
Ensembl chr11:107,658,453...107,752,637
JBrowse link
G PTPN6 protein tyrosine phosphatase non-receptor type 6 ISO protein:increased expression:foreskin RGD PMID:18543080 RGD:39128248 NCBI chr11:6,977,480...6,994,525
Ensembl chr11:6,984,710...6,994,545
JBrowse link
G RASSF1 Ras association domain family member 1 ISO associated with Papillomavirus Infections;DNA:hypermethylation:promoter RGD PMID:18608185 RGD:2299861 NCBI chr22:11,716,969...11,728,646
Ensembl chr22:11,716,918...11,725,027
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 RGD:155882439
G SMAD2 SMAD family member 2 ISO DNA, mRNA:insertion, deletion, decreased expression:uterine cervix RGD PMID:12894231 RGD:2299968 NCBI chr18:33,017,138...33,105,320
Ensembl chr18:33,017,492...33,104,606
JBrowse link
G SMAD4 SMAD family member 4 ISO mRNA:decreased expression:uterine cervix RGD PMID:12894231 RGD:2299968 NCBI chr18:29,894,157...29,951,445
Ensembl chr18:29,897,621...29,934,478
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 chr14:68,259,509...68,404,167
Ensembl chr14:68,259,360...68,399,895
JBrowse link
G SPAG5 sperm associated antigen 5 severity ISO mRNA, protein:increased expression:cervix (human) RGD PMID:35853859 RGD:155882439 NCBI chr16:22,347,213...22,370,531
Ensembl chr16:22,346,701...22,369,915
JBrowse link
G TAP1 transporter 1, ATP binding cassette subfamily B member susceptibility ISO DNA:SNPs: : RGD PMID:12648582 PMID:18248301 RGD:6482260 RGD:6482272 NCBI chr17:39,252,000...39,260,195 JBrowse link
G TAP2 transporter 2, ATP binding cassette subfamily B member susceptibility ISO DNA:SNPs: : RGD PMID:12648582 PMID:18248301 RGD:6482260 RGD:6482272 NCBI chr17:39,266,870...39,277,658 JBrowse link
G TIMP4 TIMP metallopeptidase inhibitor 4 disease_progression ISO mRNA:increased expression:uterine cervix RGD PMID:15816637 RGD:2290434 NCBI chr22:48,134,133...48,140,870
Ensembl chr22:48,134,637...48,140,600
JBrowse link
G TNF tumor necrosis factor susceptibility ISO DNA:polymorphism:promoter:-308G>A (human) RGD PMID:19823053 RGD:2315116
G TNFRSF10A TNF receptor superfamily member 10a ISO RGD PMID:16271751 RGD:2290493 NCBI chr 8:21,318,987...21,351,641
Ensembl chr 8:21,315,149...21,351,673
JBrowse link
G TP53 tumor protein p53 ISO ClinVar Annotator: match by term: Cervical cancer ClinVar PMID:1349102 PMID:1849234 PMID:8001119 PMID:8843196 PMID:9407971 More... NCBI chr16:7,047,686...7,065,567
Ensembl chr16:7,045,146...7,066,223
JBrowse link
G TP73 tumor protein p73 susceptibility ISO DNA:SNPs:exon 2:4G>A, 14C>T (rs2273953, rs1801173) (human) RGD PMID:30420492 RGD:151347580 NCBI chr20:127,958,002...128,035,792
Ensembl chr20:127,958,809...128,013,691
JBrowse link
G XRCC1 X-ray repair cross complementing 1 ISO DNA:polymorphism: :p.R194W RGD PMID:18851872 RGD:2302567 NCBI chr 6:37,062,149...37,095,138
Ensembl chr 6:37,060,439...37,095,094
JBrowse link
G ZFHX3 zinc finger homeobox 3 ISO mRNA:increased expression:uterine cervix RGD PMID:11812077 RGD:2315697 NCBI chr 5:55,912,325...56,174,010
Ensembl chr 5:55,907,983...56,085,112
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 chr 6:973,033...996,857
Ensembl chr 6:974,144...995,136
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 chr20:9,194,611...9,241,102
Ensembl chr20:9,219,937...9,241,329
JBrowse link
G BAX BCL2 associated X, apoptosis regulator ISO protein:increased expression:uterine cervix RGD PMID:17694953 RGD:1643352 NCBI chr 6:42,186,028...42,193,105 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 1:93,721,449...93,746,638 JBrowse link
G BRIP1 BRCA1 interacting DNA helicase 1 severity ISO mRNA, protein:increased expression:uterine cervix, nucleus (human) RGD PMID:24708616 RGD:11252104 NCBI chr16:32,909,226...33,085,551
Ensembl chr16:32,910,693...33,082,587
JBrowse link
G CCL22 C-C motif chemokine ligand 22 severity ISO RGD PMID:28086903 RGD:38455996
G CCR4 C-C motif chemokine receptor 4 severity ISO RGD PMID:28086903 RGD:38455996 NCBI chr15:77,435,195...77,439,164
Ensembl chr15:77,437,265...77,438,347
JBrowse link
G CD82 CD82 molecule ISO protein:decreased expression:uterine cervix RGD PMID:15642213 RGD:2289399 NCBI chr 1:20,736,216...20,793,943
Ensembl chr 1:20,735,287...20,763,160
JBrowse link
G CSF1R colony stimulating factor 1 receptor ISO protein:increased expression:uterine cervix RGD PMID:18565574 RGD:2299119 NCBI chr23:52,663,290...52,723,652
Ensembl chr23:52,664,076...52,697,304
JBrowse link
G FGF7 fibroblast growth factor 7 ISO cervical squamous cell carcinoma; mRNA:increased expression:cervical squamous cells RGD PMID:17306351 RGD:2289084 NCBI chr26:33,802,349...33,867,743
Ensembl chr26:33,802,328...33,867,333
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 chr27:46,958,444...46,974,032
Ensembl chr27:46,957,254...46,973,392
JBrowse link
G FOS Fos proto-oncogene, AP-1 transcription factor subunit disease_progression ISO protein:increased expression:uterine cervix RGD PMID:15514944 RGD:2293757 NCBI chr24:52,497,465...52,501,161
Ensembl chr24:52,497,521...52,501,514
JBrowse link
G FOSL1 FOS like 1, AP-1 transcription factor subunit ISO protein:decreased expression:uterine cervix RGD PMID:15514944 RGD:2293757 NCBI chr 1:8,356,263...8,365,606
Ensembl chr 1:8,356,836...8,364,918
JBrowse link
G FOXP3 forkhead box P3 severity ISO RGD PMID:28086903 RGD:38455996 NCBI chr  X:46,349,890...46,365,133 JBrowse link
G PDPN podoplanin disease_progression ISO RGD PMID:16528371 RGD:2292237 NCBI chr20:118,644,060...118,679,508
Ensembl chr20:118,644,051...118,679,311
JBrowse link
G SMAD3 SMAD family member 3 severity ISO RGD PMID:28086903 RGD:38455996 NCBI chr26:16,319,959...16,446,472
Ensembl chr26:16,320,933...16,446,527
JBrowse link
G TIMP2 TIMP metallopeptidase inhibitor 2 ISO protein:decreased expression:uterine cervix RGD PMID:16619570 RGD:2290402 NCBI chr16:70,819,591...70,850,471
Ensembl chr16:70,819,139...70,850,471
JBrowse link
G TMBIM6 transmembrane BAX inhibitor motif containing 6 disease_progression ISO mRNA:increased expression:uterine cervix RGD PMID:15337562 RGD:2291959 NCBI chr11:45,976,689...46,001,021
Ensembl chr11:45,976,700...46,001,457
JBrowse link
G TNFRSF4 TNF receptor superfamily member 4 severity ISO RGD PMID:28086903 RGD:38455996 NCBI chr20:130,231,064...130,234,525
Ensembl chr20:130,231,584...130,234,313
JBrowse link
G TNFSF4 TNF superfamily member 4 severity ISO RGD PMID:28086903 RGD:38455996 NCBI chr25:55,714,291...55,998,009
Ensembl chr25:55,974,691...55,997,374
JBrowse link
G TP53 tumor protein p53 disease_progression ISO RGD PMID:17969407 RGD:2298526 NCBI chr16:7,047,686...7,065,567
Ensembl chr16:7,045,146...7,066,223
JBrowse link
G TYMP thymidine phosphorylase disease_progression ISO RGD PMID:16803522 RGD:2293719 NCBI chr19:32,997,337...33,001,558
Ensembl chr19:32,997,304...33,001,215
JBrowse link
cervix carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APEX1 apurinic/apyrimidinic endodeoxyribonuclease 1 ISO DNA:SNPs (human) RGD PMID:19202550 RGD:2315691 NCBI chr29:20,978,878...20,981,393 JBrowse link
G BAG1 BAG cochaperone 1 ISO protein:increased expression:uterine cervix RGD PMID:10047462 RGD:2293889 NCBI chr12:47,006,177...47,016,177 JBrowse link
G BAK1 BCL2 antagonist/killer 1 ISO DNA:missense mutations:exon:multiple (human) RGD PMID:12771926 RGD:2315701 NCBI chr17:38,492,776...38,502,534
Ensembl chr17:38,492,858...38,501,281
JBrowse link
G CCND3 cyclin D3 ISO RGD PMID:14751136 RGD:2316013 NCBI chr17:30,107,236...30,228,449
Ensembl chr17:30,221,598...30,227,452
JBrowse link
G CD9 CD9 molecule disease_progression ISO RGD PMID:14695144 RGD:2326206 NCBI chr11:6,236,449...6,275,904
Ensembl chr11:6,236,494...6,275,909
JBrowse link
G EFEMP2 EGF containing fibulin extracellular matrix protein 2 exacerbates ISO mRNA, protein:increased expression:cervix epithelium (human) RGD PMID:24737201 RGD:42722607 NCBI chr 1:8,384,212...8,391,501
Ensembl chr 1:8,385,020...8,390,889
JBrowse link
G ERAP1 endoplasmic reticulum aminopeptidase 1 ISO DNA:SNPs (human) RGD PMID:19202550 RGD:2315691 NCBI chr 4:90,591,198...90,642,331
Ensembl chr 4:90,600,690...90,637,563
JBrowse link
G FGFR3 fibroblast growth factor receptor 3 ISO DNA:missense mutations:CDS:somatic mutations found in 3/12 (25%) of cervix carcinomas, all mutations are equivalent to activating germline mutations which cause thanatophoric dysplasia
DNA:missense mutation:CDS:amino acid S249C, only found in 1/51 primary tumors and no cell lines tested implying that mutation frequency is much lower than previously reported
RGD PMID:10471491 PMID:11114733 RGD:2289864 RGD:2289865 NCBI chr27:46,958,444...46,974,032
Ensembl chr27:46,957,254...46,973,392
JBrowse link
G LOC103224275 glutathione S-transferase Mu 1 onset ISO associated with Papillomavirus Infections;DNA:deletion:cds (human) RGD PMID:10813720 RGD:7495819 NCBI chr20:23,854,969...23,861,634 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 9:122,089,768...122,376,320 JBrowse link
G PTGS1 prostaglandin-endoperoxide synthase 1 disease_progression ISO RGD PMID:16803521 RGD:2300207 NCBI chr12:17,195,403...17,218,450
Ensembl chr12:17,192,628...17,218,315
JBrowse link
G PTK2 protein tyrosine kinase 2 ISO protein:increased tyrosine phosphorylation:cervix RGD PMID:14675348 RGD:2292568 NCBI chr 8:134,897,511...135,246,300 JBrowse link
G SPARC secreted protein acidic and cysteine rich ISO DNA:hypermethylation RGD PMID:16434596 RGD:2300022 NCBI chr23:54,224,003...54,248,869
Ensembl chr23:54,222,838...54,238,006
JBrowse link
G TAP2 transporter 2, ATP binding cassette subfamily B member susceptibility ISO DNA:SNP: :(rs4148876)(human) RGD PMID:17366619 RGD:6482264 NCBI chr17:39,266,870...39,277,658 JBrowse link
G TK1 thymidine kinase 1 ISO protein:increased expression:serum (human) RGD PMID:11474248 RGD:2317243 NCBI chr16:70,186,103...70,200,689
Ensembl chr16:70,186,767...70,200,610
JBrowse link
G TSG101 tumor susceptibility 101 ISO mRNA:alternative forms:uterine cervix:multiple
mRNA:alternative form:uterine cervix
RGD PMID:10505033 PMID:10600297 RGD:2291851 RGD:2291852 NCBI chr 1:46,401,889...46,451,122
Ensembl chr 1:46,402,024...46,450,916
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 8:37,017,827...37,131,462
Ensembl chr 8:37,017,545...37,131,615
JBrowse link
G BCL2 BCL2 apoptosis regulator disease_progression ISO protein:increased expression:uterine cervix RGD PMID:18561741 RGD:2298889 NCBI chr18:16,440,560...16,643,187
Ensembl chr18:16,441,733...16,637,895
JBrowse link
G BRCA1 BRCA1 DNA repair associated ISO DNA:deletions:exon RGD PMID:10442317 RGD:2298942 NCBI chr16:63,162,827...63,243,928 JBrowse link
G CADM1 cell adhesion molecule 1 severity ISO RGD PMID:17009984 RGD:2289089 NCBI chr 1:106,539,262...106,876,397
Ensembl chr 1:106,539,136...106,606,637
JBrowse link
G CCND1 cyclin D1 ISO protein:increased expression:uterine cervix RGD PMID:18301453 RGD:2293574 NCBI chr 1:4,909,616...4,922,272
Ensembl chr 1:4,907,353...4,922,357
JBrowse link
G CCNE1 cyclin E1 ISO protein:increased expression:uterine cervix RGD PMID:18301453 RGD:2293574 NCBI chr 6:24,879,923...24,888,985 JBrowse link
G CD274 CD274 molecule severity ISO associated with Papillomavirus Infections; protein:increased expression:dendritic cell RGD PMID:23521696 RGD:40822817 NCBI chr12:74,038,844...74,060,662
Ensembl chr12:74,041,767...74,056,806
JBrowse link
G CD46 CD46 molecule ISO protein:increased expression:uterine cervix RGD PMID:9358772 RGD:2293549 NCBI chr25:21,650,825...21,693,898
Ensembl chr25:21,655,969...21,693,878
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 chr11:53,661,877...53,665,688
Ensembl chr11:53,659,336...53,664,861
JBrowse link
G CDKN1A cyclin dependent kinase inhibitor 1A ISO protein:increased expression:epithelial cell: RGD PMID:9546362 RGD:8662446 NCBI chr17:35,445,668...35,454,334
Ensembl chr17:35,445,223...35,454,342
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 chr11:12,612,064...12,617,228
Ensembl chr11:12,612,079...12,617,531
JBrowse link
G CSF1R colony stimulating factor 1 receptor disease_progression ISO protein:increased expression:uterine cervix RGD PMID:18565574 RGD:2299119 NCBI chr23:52,663,290...52,723,652
Ensembl chr23:52,664,076...52,697,304
JBrowse link
G CTNNA1 catenin alpha 1 disease_progression ISO protein:decreased expression:uterine cervix RGD PMID:11161853 RGD:2289797 NCBI chr23:41,423,504...41,599,458
Ensembl chr23:41,447,675...41,600,190
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 chr15:89,937,900...90,214,976
Ensembl chr15:90,055,964...90,215,652
JBrowse link
G FASLG Fas ligand ISO associated with Papillomavirus Infections RGD PMID:17433060 RGD:2290052 NCBI chr25:56,488,572...56,496,469
Ensembl chr25:56,489,417...56,496,251
JBrowse link
G HDAC1 histone deacetylase 1 ISO protein:increased expression:uterine cervix RGD PMID:19147762 RGD:2306200 NCBI chr20:100,529,782...100,575,953
Ensembl chr20:100,530,369...100,558,556
JBrowse link
G HDAC2 histone deacetylase 2 ISO protein:increased expression:uterine cervix RGD PMID:19147762 RGD:2306200 NCBI chr13:59,873,248...59,904,542
Ensembl chr13:59,873,767...59,905,742
JBrowse link
G HDAC6 histone deacetylase 6 ISO protein:increased expression:uterine cervix RGD PMID:19147762 RGD:2306200 NCBI chr  X:45,927,625...45,951,636
Ensembl chr  X:45,928,092...45,952,929
JBrowse link
G IGFBP3 insulin like growth factor binding protein 3 ISO mRNA:decreased expression:tumor:significant decrease in cancer relative to controls (P=0.03)
protein:decreased expression:serum:significantly decreased (p<0.0001), levels inversely associated with serum IGF-II levels (p<0.01)
RGD PMID:14675666 PMID:17709267 RGD:2290004 RGD:2290021 NCBI chr21:12,905,309...12,914,199
Ensembl chr21:12,905,280...12,914,205
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 chr14:15,844,628...15,852,652
Ensembl chr14:15,844,672...15,850,729
JBrowse link
G LOC103233229 cadherin-1 ISO DNA:hypermethylation:uterine cervix RGD PMID:17894941 RGD:2289490 NCBI chr 5:58,578,244...58,679,677
Ensembl chr 5:58,578,146...58,679,541
JBrowse link
G LOC103244924 cyclin-G1 ISO protein:increased expression:uterine cervix RGD PMID:16845792 RGD:2316022 NCBI chr23:65,709,759...65,716,913
Ensembl chr23:65,709,786...65,714,711
JBrowse link
G MGP matrix Gla protein ISO RGD PMID:17960611 RGD:2293584 NCBI chr11:14,776,668...14,780,796
Ensembl chr11:14,776,209...14,780,947
JBrowse link
G MLH1 mutL homolog 1 ISO protein:increased expression:uterine cervix RGD PMID:15807307 RGD:2293515 NCBI chr15:2,364,537...2,418,379
Ensembl chr15:2,364,738...2,418,393
JBrowse link
G MMP2 matrix metallopeptidase 2 disease_progression ISO protein:increased expression:uterine cervix RGD PMID:16619570 RGD:2290402 NCBI chr 5:41,264,382...41,291,657
Ensembl chr 5:41,264,354...41,291,004
JBrowse link
G MSH2 mutS homolog 2 ISO protein:increased expression:uterine cervix RGD PMID:15807307 RGD:2293515 NCBI chr14:59,730,101...59,802,857
Ensembl chr14:59,729,789...59,802,819
JBrowse link
G MTHFR methylenetetrahydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17303386 NCBI chr20:119,987,667...120,003,611
Ensembl chr20:119,990,133...120,002,950
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 chr10:127,877,383...127,886,234
Ensembl chr10:127,878,554...127,886,088
JBrowse link
G PHB1 prohibitin 1 ISO protein:increased expression:uterine cervix RGD PMID:16426920 RGD:2292398 NCBI chr16:69,805,968...69,816,792
Ensembl chr16:69,806,923...69,816,754
JBrowse link
G POU4F1 POU class 4 homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20190800 NCBI chr 3:57,667,248...57,673,071 JBrowse link
G PTEN phosphatase and tensin homolog ISO protein:decreased expression:uterine cervix RGD PMID:17672936 RGD:2298701 NCBI chr 9:81,308,058...81,412,386
Ensembl chr 9:81,309,099...81,409,146
JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 disease_progression ISO protein:increased expression:uterine cervix, epithelial cell RGD PMID:18565574 RGD:2299119 NCBI chr25:42,733,535...42,742,463
Ensembl chr25:42,734,771...42,742,429
JBrowse link
G RB1 RB transcriptional corepressor 1 ISO associated with Adenocarcinoma RGD PMID:18234283 RGD:2299896 NCBI chr 3:26,220,783...26,393,671
Ensembl chr 3:26,220,803...26,394,546
JBrowse link
G RELA RELA proto-oncogene, NF-kB subunit disease_progression ISO protein:altered localization, increased expression:nucleus, uterine cervix RGD PMID:16850495 RGD:2298759 NCBI chr 1:8,576,059...8,585,561
Ensembl chr 1:8,576,542...8,586,516
JBrowse link
G SKP2 S-phase kinase associated protein 2 severity ISO associated with Papillomavirus Infections RGD PMID:19094580 RGD:2315036 NCBI chr 4:35,009,114...35,040,518
Ensembl chr 4:35,009,076...35,042,632
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 chr16:35,392,573...35,396,815
Ensembl chr16:35,392,873...35,394,982
JBrowse link
G STAT3 signal transducer and activator of transcription 3 disease_progression ISO protein:increased serine phosphorylation:cervix epithelium
protein:increased expression:nucleus
RGD PMID:16005944 PMID:17110342 RGD:2291916 RGD:2298536 NCBI chr16:63,877,884...63,957,894
Ensembl chr16:63,922,862...63,957,984
JBrowse link
G TERT telomerase reverse transcriptase disease_progression ISO protein:increased expression:uterine cervix RGD PMID:17644806 RGD:2291985 NCBI chr 4:1,082,894...1,119,373
Ensembl chr 4:1,083,384...1,117,468
JBrowse link
G THRB thyroid hormone receptor beta ISO DNA:loss of heterozygosity (human) RGD PMID:11483913 RGD:2315099 NCBI chr15:68,797,410...69,161,256
Ensembl chr15:68,802,078...68,902,292
JBrowse link
G TOP2A DNA topoisomerase II alpha ISO RGD PMID:19051821 RGD:2315126 NCBI chr16:65,761,391...65,792,041
Ensembl chr16:65,761,416...65,792,701
JBrowse link
G TP63 tumor protein p63 disease_progression ISO RGD PMID:16804722 RGD:2315435 NCBI chr15:83,861,489...84,126,675 JBrowse link
G TP73 tumor protein p73 disease_progression ISO mRNA:increased expression:uterine cervix RGD PMID:11870517 RGD:2290589 NCBI chr20:127,958,002...128,035,792
Ensembl chr20:127,958,809...128,013,691
JBrowse link
G VEGFA vascular endothelial growth factor A ISO protein:increased expression:uterine cervix RGD PMID:19723043 RGD:2315456 NCBI chr17:28,377,959...28,394,508 JBrowse link
G XIAP X-linked inhibitor of apoptosis ISO protein:increased expression:uterine cervix RGD PMID:18325467 RGD:2315850
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 ISO RGD PMID:16118671 RGD:8549760 NCBI chr22:7,803,794...7,818,112 JBrowse link
G CD40 CD40 molecule ISO RGD PMID:20102413 RGD:5132268 NCBI chr 2:17,753,713...17,765,134
Ensembl chr 2:17,753,394...17,764,566
JBrowse link
G FOXP3 forkhead box P3 treatment ISO RGD PMID:30832593 RGD:38455984 NCBI chr  X:46,349,890...46,365,133 JBrowse link
G ICAM1 intercellular adhesion molecule 1 ISO mRNA:increased expression:lung (mouse) RGD PMID:19728926 RGD:4145507 NCBI chr 6:9,320,991...9,338,125
Ensembl chr 6:9,322,550...9,338,263
JBrowse link
G IDO1 indoleamine 2,3-dioxygenase 1 treatment ISO mRNA:increased expression:lung (mouse) RGD PMID:30832593 PMID:31249813 RGD:38455984 RGD:39938856 NCBI chr 8:37,930,910...37,950,790
Ensembl chr 8:37,930,562...37,946,505
JBrowse link
G IFNG interferon gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:19203382 NCBI chr11:63,785,493...63,791,071
Ensembl chr11:63,786,041...63,790,473
JBrowse link
G IL13 interleukin 13 ISO RGD PMID:21573182 RGD:5684365 NCBI chr23:35,475,762...35,479,419
Ensembl chr23:35,476,490...35,478,869
JBrowse link
G IL17A interleukin 17A ISO associated with Bronchial Hyprractivity; mRNA:increased expression:lung RGD PMID:19812198 PMID:20228193 RGD:4888528 RGD:4889101 NCBI chr17:20,314,082...20,319,917
Ensembl chr17:20,315,773...20,318,785
JBrowse link
G TGFB1 transforming growth factor beta 1 treatment ISO RGD PMID:30832593 RGD:38455984 NCBI chr 6:35,651,583...35,674,387
Ensembl chr 6:35,648,677...35,674,365
JBrowse link
G TNF tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19203382
Chlamydia pneumonia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CD274 CD274 molecule ISO mRNA:increased expression:lung RGD PMID:26378990 RGD:41412180 NCBI chr12:74,038,844...74,060,662
Ensembl chr12:74,041,767...74,056,806
JBrowse link
G PDCD1 programmed cell death 1 ISO mRNA:increased expression:lung RGD PMID:26378990 RGD:41412180 NCBI chr10:127,877,383...127,886,234
Ensembl chr10:127,878,554...127,886,088
JBrowse link
G PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta severity ISO RGD PMID:29893841 RGD:40890270 NCBI chr20:122,040,131...122,111,397
Ensembl chr20:122,041,963...122,078,504
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 chr17:39,847,343...39,851,288
Ensembl chr17:39,847,759...39,851,127
JBrowse link
G IL1A interleukin 1 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:21493953 NCBI chr14:15,789,710...15,801,938
Ensembl chr14:15,789,013...15,796,611
JBrowse link
G IL6 interleukin 6 ISO protein:increased expression:plasma
protein:increased expression: cervicovaginal fluid :
associated with Premature Birth;protein:increased expression:tracheal aspirate fluid:
RGD PMID:15547537 PMID:25011638 PMID:25687566 RGD:12791291 RGD:12792243 RGD:5128667 NCBI chr21:35,577,513...35,582,385
Ensembl chr21:35,577,939...35,582,237
JBrowse link
G LTA lymphotoxin alpha severity ISO associated with Premature Birth;DNA:SNP:promoter:250G>A (human) RGD PMID:15128916 RGD:12904055
G MBL2 mannose binding lectin 2 susceptibility ISO DNA:polymorphism:exon:p.G54D(human) RGD PMID:15723707 RGD:12910932 NCBI chr 9:78,389,534...78,394,753
Ensembl chr 9:78,389,947...78,396,079
JBrowse link
G MMP9 matrix metallopeptidase 9 severity ISO protein:increased expression:respiratory system fluid/secretion RGD PMID:12712078 RGD:13204828 NCBI chr 2:17,867,267...17,874,757
Ensembl chr 2:17,867,177...17,874,712
JBrowse link
G TGFB1 transforming growth factor beta 1 severity ISO protein:increased expression:amniotic fluid RGD PMID:19332995 RGD:4145137 NCBI chr 6:35,651,583...35,674,387
Ensembl chr 6:35,648,677...35,674,365
JBrowse link
G TNF tumor necrosis factor severity
no_association
ISO associated with Premature Birth;DNA:SNP:promoter:c.-238G>A (human)
associated with Premature Birth;DNA:SNP:promoter:c.-308 G>A (human)
RGD PMID:15128916 RGD:12904055
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 chr17:30,873,647...30,885,292
Ensembl chr17:30,873,666...30,886,967
JBrowse link
choriocarcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FGF8 fibroblast growth factor 8 ISO protein:increased expression:testicular germ cell neoplasms RGD PMID:11764380 RGD:2289339 NCBI chr 9:94,797,157...94,803,725
Ensembl chr 9:94,798,088...94,803,629
JBrowse link
G IGF2 insulin like growth factor 2 disease_progression ISO protein:increased expression:tumor:elevated IGF-II increased choriocarcinoma cell invasion via activation of INSR RGD PMID:17556377 RGD:2290454 NCBI chr 1:1,937,414...1,951,238
Ensembl chr 1:1,936,830...1,945,388
JBrowse link
G INSR insulin receptor disease_progression ISO protein:increased activity:tumor:IGF-II increased choriocarcinoma cell invasion via activation of INSR RGD PMID:17556377 RGD:2290454 NCBI chr 6:6,625,951...6,803,610
Ensembl chr 6:6,630,777...6,803,592
JBrowse link
G PDGFB platelet derived growth factor subunit B ISO mRNA:increased expression:mononuclear cytotrophoblast cell RGD PMID:8504434 RGD:2292200 NCBI chr19:21,865,792...21,888,068
Ensembl chr19:21,863,768...21,886,395
JBrowse link
G PDGFRB platelet derived growth factor receptor beta ISO mRNA:increased expression:mononuclear cytotrophoblast cell RGD PMID:8504434 RGD:2292200 NCBI chr23:52,724,061...52,766,264
Ensembl chr23:52,724,005...52,766,234
JBrowse link
G TIMP3 TIMP metallopeptidase inhibitor 3 ISO DNA, protein:hypermethylation, decreased expression:promoter, placenta RGD PMID:15507671 RGD:2290418 NCBI chr19:15,621,609...15,684,118
Ensembl chr19:15,622,431...15,680,449
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:17,428,416...17,573,497
Ensembl chr  X:17,427,532...17,468,812
JBrowse link
G CFTR CF transmembrane conductance regulator ISO ClinVar Annotator: match by term: Congenital bilateral absence of vas deferens ClinVar PMID:1381723 PMID:2344617 PMID:7506096 PMID:7539342 PMID:7573058 More... NCBI chr21:86,154,313...86,332,436 JBrowse link
congenital diaphragmatic hernia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AGTR2 angiotensin II receptor type 2 ISO RGD PMID:22113494 RGD:6903875
G ATP7A ATPase copper transporting alpha ISO mRNA, protein:decreased expression:diaphragm (rat) RGD PMID:25319798 RGD:11341670 NCBI chr  X:66,843,519...66,985,655
Ensembl chr  X:66,843,558...66,985,709
JBrowse link
G BMP4 bone morphogenetic protein 4 ISO mRNA:decreased expression:heart: RGD PMID:18280291 RGD:9068407 NCBI chr24:31,097,673...31,104,774
Ensembl chr24:31,097,538...31,101,225
JBrowse link
G CBL Cbl proto-oncogene ISO mRNA,protein:decreased expression, hypophosphorylation:lung, alveolar epithelium: RGD PMID:23143077 RGD:11038813 NCBI chr 1:110,581,049...110,679,284
Ensembl chr 1:110,581,143...110,674,481
JBrowse link
G CCL2 C-C motif chemokine ligand 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30418988 NCBI chr16:27,763,354...27,765,437
Ensembl chr16:27,763,555...27,765,416
JBrowse link
G CCN2 cellular communication network factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20939759 PMID:21258935 NCBI chr13:41,613,838...41,617,010
Ensembl chr13:41,613,798...41,617,651
JBrowse link
G DES desmin ISO ClinVar Annotator: match by term: Congenital diaphragmatic hernia ClinVar PMID:14724127 PMID:15477095 PMID:16217025 PMID:16519886 PMID:16828798 More... NCBI chr10:105,312,348...105,320,869 JBrowse link
G ELN elastin ISO mRNA,protein:increased expression:lung: RGD PMID:12194112 RGD:9585688 NCBI chr28:8,999,164...9,048,703 JBrowse link
G EP300 E1A binding protein p300 ISO mRNA:decreased expression:lung RGD PMID:24488106 RGD:9588310 NCBI chr19:23,634,132...23,726,095
Ensembl chr19:23,634,571...23,724,979
JBrowse link
G EPO erythropoietin ISO CTD Direct Evidence: marker/mechanism CTD PMID:27880037 NCBI chr28:12,487,222...12,491,986
Ensembl chr28:12,489,766...12,491,908
JBrowse link
G FBN1 fibrillin 1 ISO ClinVar Annotator: match by term: Congenital diaphragmatic hernia ClinVar PMID:23806086 PMID:24088041 PMID:25736269 NCBI chr26:34,637,916...34,877,499
Ensembl chr26:34,638,838...34,879,217
JBrowse link
G FGFRL1 fibroblast growth factor receptor like 1 ISO ClinVar Annotator: match by term: Congenital diaphragmatic hernia ClinVar PMID:25741868 PMID:28492532 PMID:33443296 NCBI chr27:47,752,316...47,766,771
Ensembl chr27:47,750,626...47,755,929
JBrowse link
G FOXC2 forkhead box C2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27663689 NCBI chr 5:71,951,980...71,955,021
Ensembl chr 5:71,952,632...71,954,134
JBrowse link
G FOXF1 forkhead box F1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27663689 NCBI chr 5:71,898,473...71,902,624
Ensembl chr 5:71,898,786...71,903,661
JBrowse link
G FRAS1 Fraser extracellular matrix complex subunit 1 ISO ClinVar Annotator: match by term: Agenesis of hemidiaphragm | ClinVar Annotator: match by term: Congenital diaphragmatic hernia ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:26,545,048...26,992,346
Ensembl chr 7:26,700,869...26,954,352
JBrowse link
G FREM1 FRAS1 related extracellular matrix 1 ISO ClinVar Annotator: match by term: Agenesis of hemidiaphragm ClinVar PMID:23806086 PMID:24088041 PMID:25736269 PMID:25741868 PMID:28492532 NCBI chr12:64,681,181...64,849,266 JBrowse link
G FREM2 FRAS1 related extracellular matrix 2 ISO ClinVar Annotator: match by term: Agenesis of hemidiaphragm | ClinVar Annotator: match by term: Congenital diaphragmatic hernia ClinVar PMID:25741868 PMID:28492532 PMID:30143558 NCBI chr 3:17,121,063...17,310,149
Ensembl chr 3:17,129,126...17,300,363
JBrowse link
G GATA4 GATA binding protein 4 ISO CTD Direct Evidence: marker/mechanism
OMIM:142340 | OMIM:222400 | OMIM:610187
CTD
MouseDO
PMID:23426975 NCBI chr 8:7,348,145...7,432,574
Ensembl chr 8:7,349,660...7,400,562
JBrowse link
G GATA6 GATA binding protein 6 ISO ClinVar Annotator: match by term: Agenesis of hemidiaphragm | ClinVar Annotator: match by term: DIH ClinVar PMID:22158542 PMID:24385578 PMID:25741868 NCBI chr18:58,312,328...58,345,472
Ensembl chr18:58,311,482...58,343,746
JBrowse link
G GLI3 GLI family zinc finger 3 ISO ClinVar Annotator: match by term: Congenital diaphragmatic hernia ClinVar NCBI chr21:16,386,700...16,665,648
Ensembl chr21:16,549,789...16,662,238
JBrowse link
G HTR2A 5-hydroxytryptamine receptor 2A ISO mRNA, protein:increased expression:lung RGD PMID:24888825 RGD:401901089 NCBI chr 3:24,820,029...24,884,472
Ensembl chr 3:24,820,035...24,883,432
JBrowse link
G IGF1 insulin like growth factor 1 ISO mRNA:decreased expression:heart (rat) RGD PMID:11409163 RGD:12904929 NCBI chr11:97,624,498...97,708,730
Ensembl chr11:97,631,189...97,707,308
JBrowse link
G IGF1R insulin like growth factor 1 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20620343 PMID:21433279 NCBI chr29:17,212,206...17,534,036
Ensembl chr29:17,459,404...17,526,930
JBrowse link
G IGF2 insulin like growth factor 2 treatment ISO RGD PMID:24352370 RGD:10402563 NCBI chr 1:1,937,414...1,951,238
Ensembl chr 1:1,936,830...1,945,388
JBrowse link
G IGF2R insulin like growth factor 2 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20620343 PMID:21433279 NCBI chr13:87,587,717...87,723,795
Ensembl chr13:87,587,907...87,724,116
JBrowse link
G IGFBP3 insulin like growth factor binding protein 3 ISO RGD PMID:19844724 RGD:10402761 NCBI chr21:12,905,309...12,914,199
Ensembl chr21:12,905,280...12,914,205
JBrowse link
G IGFBP5 insulin like growth factor binding protein 5 ISO RGD PMID:19844724 RGD:10402761 NCBI chr10:102,510,939...102,531,710
Ensembl chr10:102,510,897...102,531,724
JBrowse link
G INSR insulin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21433279 NCBI chr 6:6,625,951...6,803,610
Ensembl chr 6:6,630,777...6,803,592
JBrowse link
G KCNQ5 potassium voltage-gated channel subfamily Q member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28189443 NCBI chr17:1,932,962...2,495,926
Ensembl chr17:1,930,803...2,128,570
JBrowse link
G KIF7 kinesin family member 7 ISO mRNA,protein:decreased expression:diaphragmatic mesenchyme, pulmonary mesenchyme;
OMIM:142340 | OMIM:222400 | OMIM:610187
RGD
MouseDO
PMID:25921351 RGD:11553839 NCBI chr29:8,172,294...8,193,775
Ensembl chr29:8,170,883...8,191,323
JBrowse link
G LCN2 lipocalin 2 ISO mRNA:decreased expression:lung
protein:decreased expression:amniotic fluid
RGD PMID:27592368 RGD:126790533 NCBI chr12:9,976,278...9,981,087
Ensembl chr12:9,976,614...9,980,870
JBrowse link
G LOC103231480 myosin-7 ISO ClinVar Annotator: match by term: Agenesis of hemidiaphragm ClinVar PMID:12707239 PMID:17125710 PMID:18076673 PMID:20394946 PMID:20800588 More... NCBI chr29:23,783,610...23,804,981
Ensembl chr29:23,783,557...23,799,771
JBrowse link
G LOC103239432 myoblast determination protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21258934 NCBI chr 1:47,250,927...47,254,572
Ensembl chr 1:47,251,551...47,253,284
JBrowse link
G LRP1 LDL receptor related protein 1 ISO OMIM:142340 | OMIM:222400 | OMIM:610187 MouseDO NCBI chr11:53,039,147...53,125,041
Ensembl chr11:53,039,364...53,125,776
JBrowse link
G LZTR1 leucine zipper like post translational regulator 1 ISO ClinVar Annotator: match by term: Congenital diaphragmatic hernia ClinVar PMID:24362817 PMID:25335493 PMID:25480913 PMID:25741868 PMID:25795793 More... NCBI chr19:4,917,381...4,935,174
Ensembl chr19:4,918,360...4,933,439
JBrowse link
G MET MET proto-oncogene, receptor tyrosine kinase ISO ClinVar Annotator: match by term: Agenesis of hemidiaphragm ClinVar PMID:1104268 PMID:14559814 PMID:17483355 PMID:21970370 PMID:22703879 More... NCBI chr21:85,370,574...85,486,405
Ensembl chr21:85,397,645...85,488,093
JBrowse link
G MN1 MN1 proto-oncogene, transcriptional regulator ISO ClinVar Annotator: match by term: Agenesis of hemidiaphragm ClinVar PMID:25741868 PMID:31834374 NCBI chr19:10,652,940...10,706,989
Ensembl chr19:10,652,939...10,706,762
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 chr16:17,157,275...17,217,609
Ensembl chr16:17,157,490...17,218,009
JBrowse link
G MYRF myelin regulatory factor ISO ClinVar Annotator: match by term: Agenesis of hemidiaphragm ClinVar PMID:25741868 PMID:30532227 NCBI chr 1:12,066,277...12,103,091 JBrowse link
G NDST1 N-deacetylase and N-sulfotransferase 1 ISO OMIM:142340 | OMIM:222400 | OMIM:610187 MouseDO NCBI chr23:53,109,806...53,159,880
Ensembl chr23:53,123,222...53,155,016
JBrowse link
G NOS3 nitric oxide synthase 3 ISO protein:decreased expression:pulmonary artery (rat) RGD PMID:29216632 RGD:13504720 NCBI chr21:119,174,829...119,196,840 JBrowse link
G NR2F2 nuclear receptor subfamily 2 group F member 2 ISO OMIM:142340 | OMIM:222400 | OMIM:610187 MouseDO NCBI chr29:14,889,526...14,901,848
Ensembl chr29:14,891,737...14,903,813
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 chr10:108,125,198...108,225,217
Ensembl chr10:108,125,747...108,224,478
JBrowse link
G PDGFRA platelet derived growth factor receptor alpha ISO OMIM:142340 | OMIM:222400 | OMIM:610187 MouseDO NCBI chr 7:14,243,291...14,307,373
Ensembl chr 7:14,241,070...14,307,422
JBrowse link
G PGAP3 post-GPI attachment to proteins phospholipase 3 ISO ClinVar Annotator: match by term: Agenesis of hemidiaphragm ClinVar PMID:25741868 PMID:30345601 NCBI chr16:66,478,426...66,495,631
Ensembl chr16:66,478,679...66,495,929
JBrowse link
G PIM1 Pim-1 proto-oncogene, serine/threonine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:25812446 NCBI chr17:34,968,661...34,973,920
Ensembl chr17:34,968,429...34,973,760
JBrowse link
G PLS3 plastin 3 ISO ClinVar Annotator: match by term: Congenital diaphragmatic hernia ClinVar PMID:25741868 PMID:37751738
G RHOA ras homolog family member A ISO CTD Direct Evidence: marker/mechanism CTD PMID:25783350 NCBI chr22:10,757,381...10,809,257
Ensembl chr22:10,757,337...10,772,704
JBrowse link
G ROBO4 roundabout guidance receptor 4 ISO ClinVar Annotator: match by term: Congenital diaphragmatic hernia ClinVar NCBI chr 1:116,027,516...116,041,771
Ensembl chr 1:116,026,834...116,041,422
JBrowse link
G SFTPB surfactant protein B treatment ISO RGD PMID:11051153 RGD:151667435 NCBI chr14:21,487,424...21,497,491
Ensembl chr14:21,488,387...21,499,850
JBrowse link
G SLC6A4 solute carrier family 6 member 4 ISO protein:increased expression:lung RGD PMID:24888825 RGD:401901089 NCBI chr16:23,929,196...23,969,665
Ensembl chr16:23,927,311...23,955,616
JBrowse link
G SLIT2 slit guidance ligand 2 ISO mRNA:increased expression:lung RGD PMID:19944214 RGD:243048459 NCBI chr27:29,650,589...30,020,105
Ensembl chr27:29,650,337...29,803,612
JBrowse link
G SLIT3 slit guidance ligand 3 ISO OMIM:142340 | OMIM:222400 | OMIM:610187
mRNA:increased expression:lung
MouseDO
RGD
PMID:19944214 RGD:243048459 NCBI chr23:70,890,096...71,524,002
Ensembl chr23:70,885,737...71,106,703
JBrowse link
G SOD1 superoxide dismutase 1 ISO mRNA:decreased expression:lung RGD PMID:26534761 RGD:11035301 NCBI chr 2:60,461,219...60,472,999 JBrowse link
G SOD2 superoxide dismutase 2 ISO mRNA:decreased expression:lung RGD PMID:26534761 RGD:11035301 NCBI chr13:87,284,537...87,297,998
Ensembl chr13:87,280,686...87,297,974
JBrowse link
G SOX7 SRY-box transcription factor 7 ISO OMIM:142340 | OMIM:222400 | OMIM:610187 MouseDO NCBI chr 8:8,368,632...8,375,529
Ensembl chr 8:8,368,912...8,375,530
JBrowse link
G STAT3 signal transducer and activator of transcription 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25812446 NCBI chr16:63,877,884...63,957,894
Ensembl chr16:63,922,862...63,957,984
JBrowse link
G TNF tumor necrosis factor ISO RGD PMID:10541330 RGD:12904053
G VEGFA vascular endothelial growth factor A ISO protein:decreased expression:lung: RGD PMID:15879288 RGD:7421593 NCBI chr17:28,377,959...28,394,508 JBrowse link
G WNT11 Wnt family member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25783350 NCBI chr 1:67,393,975...67,427,247
Ensembl chr 1:67,399,074...67,418,509
JBrowse link
G WT1 WT1 transcription factor ISO CTD Direct Evidence: marker/mechanism
OMIM:142340 | OMIM:222400 | OMIM:610187
CTD
MouseDO
PMID:21072664 NCBI chr 1:32,750,300...32,801,832 JBrowse link
G ZFPM2 zinc finger protein, FOG family member 2 ISO OMIM:142340 | OMIM:222400 | OMIM:610187 MouseDO NCBI chr 8:100,138,867...100,620,355 JBrowse link
Coronary Artery Disease, Development of, in HIV term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCL2 C-C motif chemokine ligand 2 ISO ClinVar Annotator: match by term: Coronary artery disease, development of, in HIV ClinVar PMID:11500196 PMID:15466648 PMID:16352737 PMID:16596675 PMID:18940815 More... NCBI chr16:27,763,354...27,765,437
Ensembl chr16:27,763,555...27,765,416
JBrowse link
CRYPTOZOOSPERMIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G M1AP meiosis 1 associated protein ISO ClinVar Annotator: match by term: Cryptozoospermia ClinVar PMID:25741868 PMID:32673564 NCBI chr14:32,630,651...32,719,884
Ensembl chr14:32,637,838...32,719,061
JBrowse link
G SYCP2 synaptonemal complex protein 2 ISO ClinVar Annotator: match by term: Cryptozoospermia ClinVar PMID:25741868 PMID:31866047 NCBI chr 2:4,214,713...4,283,451
Ensembl chr 2:4,226,063...4,282,751
JBrowse link
G TRIM71 tripartite motif containing 71 ISO ClinVar Annotator: match by term: Cryptozoospermia ClinVar PMID:25741868 NCBI chr15:77,319,064...77,396,036
Ensembl chr15:77,319,148...77,390,066
JBrowse link
Deafness-Infertility Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CATSPER2 cation channel sperm associated 2 ISO ClinVar Annotator: match by term: Deafness-infertility syndrome ClinVar PMID:19344877 PMID:24033266 PMID:25741868 NCBI chr26:39,300,273...39,325,846 JBrowse link
G LOC103245735 stereocilin ISO ClinVar Annotator: match by term: Deafness-infertility syndrome ClinVar PMID:18414213 PMID:21078986 PMID:22147502 PMID:24033266 PMID:25157971 More... NCBI chr26:39,376,441...39,397,613
Ensembl chr26:39,378,318...39,401,072
JBrowse link
G LOC103246095 creatine kinase U-type, mitochondrial ISO ClinVar Annotator: match by term: Deafness-infertility syndrome ClinVar PMID:25741868 NCBI chr26:39,397,797...39,401,046 JBrowse link
G PDIA3 protein disulfide isomerase family A member 3 ISO ClinVar Annotator: match by term: Deafness-infertility syndrome ClinVar PMID:25741868 NCBI chr26:39,273,982...39,300,170
Ensembl chr26:39,272,997...39,349,966
JBrowse link
G PPIP5K1 diphosphoinositol pentakisphosphate kinase 1 ISO ClinVar Annotator: match by term: Deafness-infertility syndrome ClinVar PMID:25741868
dermoid cyst of ovary term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FOXO3 forkhead box O3 ISO OMIM:166950 MouseDO NCBI chr13:65,175,764...65,303,107
Ensembl chr13:65,195,376...65,301,725
JBrowse link
Diaphragmatic Hernia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AGT angiotensinogen ISO CTD Direct Evidence: marker/mechanism CTD PMID:16292651 NCBI chr25:67,964,840...67,977,006
Ensembl chr25:67,962,401...67,973,324
JBrowse link
G AGTR1 angiotensin II receptor type 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16292651 NCBI chr15:41,957,82