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RGD DISEASE ONTOLOGY - ANNOTATIONS

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

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


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Female Urogenital Diseases term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amh anti-Mullerian hormone ISO CTD Direct Evidence: marker/mechanism CTD PMID:16002989 NCBI chrNW_004624828:6,635,192...6,638,104
Ensembl chrNW_004624828:6,631,420...6,637,732
JBrowse link
G Amhr2 anti-Mullerian hormone receptor type 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16002989 NCBI chrNW_004624904:1,520,450...1,535,291
Ensembl chrNW_004624904:1,520,572...1,530,908
JBrowse link
G Bmpr1a bone morphogenetic protein receptor type 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:16002989 NCBI chrNW_004624841:218,642...304,744
Ensembl chrNW_004624841:219,133...265,397
JBrowse link
G Emx2 empty spiracles homeobox 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16002989 NCBI chrNW_004624737:29,103,378...29,110,356
Ensembl chrNW_004624737:29,103,279...29,110,344
JBrowse link
G Esr1 estrogen receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16002989 NCBI chrNW_004624785:6,164,507...6,601,302
Ensembl chrNW_004624785:6,164,379...6,601,326
JBrowse link
G Hoxa10 homeobox A10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16002989 NCBI chrNW_004624739:3,425,468...3,435,218
Ensembl chrNW_004624739:3,425,468...3,433,967
JBrowse link
G Hoxa11 homeobox A11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16002989 NCBI chrNW_004624739:3,420,501...3,424,151
Ensembl chrNW_004624739:3,418,723...3,423,950
JBrowse link
G Hoxa13 homeobox A13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16002989 NCBI chrNW_004624739:3,405,860...3,410,426
Ensembl chrNW_004624739:3,406,436...3,410,851
JBrowse link
G Igf1 insulin like growth factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16002989 NCBI chrNW_004624750:5,881,065...5,954,799
Ensembl chrNW_004624750:5,881,091...5,952,300
JBrowse link
G Lhx1 LIM homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16002989 NCBI chrNW_004624871:3,954,490...3,961,861
Ensembl chrNW_004624871:3,954,504...3,963,033
JBrowse link
G Lif LIF interleukin 6 family cytokine ISO CTD Direct Evidence: marker/mechanism CTD PMID:16002989 NCBI chrNW_004624747:6,558,872...6,565,207
Ensembl chrNW_004624747:6,558,817...6,565,281
JBrowse link
G Msx2 msh homeobox 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16513791 NCBI chrNW_004624733:15,288,417...15,294,481
Ensembl chrNW_004624733:15,288,326...15,294,568
JBrowse link
G Pax2 paired box 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16002989 NCBI chrNW_004624831:375,851...453,968
Ensembl chrNW_004624831:375,866...453,930
JBrowse link
G Timp1 TIMP metallopeptidase inhibitor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16002989 NCBI chrNW_004624978:120,723...125,006
Ensembl chrNW_004624978:121,803...124,912
JBrowse link
G Tp63 tumor protein p63 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16002989 NCBI chrNW_004624730:67,283,444...67,489,808
Ensembl chrNW_004624730:67,286,160...67,489,670
JBrowse link
G Wnt4 Wnt family member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16002989 NCBI chrNW_004624764:6,913,027...6,934,650
Ensembl chrNW_004624764:6,921,811...6,933,392
JBrowse link
G Wnt5a Wnt family member 5A ISO CTD Direct Evidence: marker/mechanism CTD PMID:16002989 NCBI chrNW_004624822:1,824,378...1,843,599
Ensembl chrNW_004624822:1,825,238...1,841,288
JBrowse link
G Wnt7a Wnt family member 7A ISO CTD Direct Evidence: marker/mechanism CTD PMID:16002989 NCBI chrNW_004624796:12,431,310...12,472,303
Ensembl chrNW_004624796:12,431,959...12,472,303
JBrowse link
46 XX gonadal dysgenesis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fancl FA complementation group L ISO OMIM:233300 | OMIM:278850 | OMIM:300833 | OMIM:400045 | OMIM:611812 | OMIM:614324 MouseDO NCBI chrNW_004624833:3,603,712...3,692,540
Ensembl chrNW_004624833:3,603,383...3,663,572
JBrowse link
G Fshr follicle stimulating hormone receptor ISO ClinVar Annotator: match by term: Gonadal dysgenesis, XX type | ClinVar Annotator: match by term: Ovarian dysgenesis ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624738:30,170,514...30,369,250
Ensembl chrNW_004624738:30,176,817...30,369,166
JBrowse link
G Mrps22 mitochondrial ribosomal protein S22 ISO ClinVar Annotator: match by term: 46 XX gonadal dysgenesis ClinVar PMID:25741868 PMID:28492532 PMID:29566152 NCBI chrNW_004624730:15,894,624...15,908,069
Ensembl chrNW_004624730:15,894,676...15,907,892
JBrowse link
G Nr5a1 nuclear receptor subfamily 5 group A member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19246354 NCBI chrNW_004624760:10,603,504...10,626,259
Ensembl chrNW_004624760:10,605,877...10,626,386
JBrowse link
46,XX sex reversal 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sox9 SRY-box transcription factor 9 ISO ClinVar Annotator: match by term: 46,XX sex reversal 2 ClinVar PMID:21208124 PMID:22051515 NCBI chrNW_004624801:2,296,353...2,300,853
Ensembl chrNW_004624801:2,296,168...2,301,596
JBrowse link
acquired immunodeficiency syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arhgap44 Rho GTPase activating protein 44 disease_progression ISO DNA:SNPs, haplotype:intron, exon: (rs2072255, rs2072254) (human)
DNA:SNP:intron: (rs2072255) (human)
RGD PMID:21107268 PMID:28069446 RGD:401901288 RGD:401901289 NCBI chrNW_004624877:662,595...851,762
Ensembl chrNW_004624877:661,998...850,431
JBrowse link
G Bst2 bone marrow stromal cell antigen 2 ISO DNA:SNPs: : RGD PMID:26885809 RGD:14398494 NCBI chrNW_004624908:588,925...591,033 JBrowse link
G Cd4 CD4 molecule ISO associated with drug dependence; protein:increased expression:temporal lobe (human) RGD PMID:16873198 RGD:407420271 NCBI chrNW_004624860:3,470,886...3,492,247
Ensembl chrNW_004624860:3,470,631...3,492,846
JBrowse link
G Cd40lg CD40 ligand treatment ISO RGD PMID:9499800 RGD:11344976 NCBI chrNW_004624808:10,472,028...10,484,407
Ensembl chrNW_004624808:10,472,572...10,484,338
JBrowse link
G Cd68 CD68 molecule ISO associated with drug dependence; protein:increased expression:temporal lobe (human) RGD PMID:16873198 RGD:407420271 NCBI chrNW_004624786:10,195,337...10,197,963 JBrowse link
G Cd8a CD8 subunit alpha ISO associated with drug dependence; protein:increased expression:temporal lobe (human) RGD PMID:16873198 RGD:407420271 NCBI chrNW_004624749:16,564,944...16,569,890 JBrowse link
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit susceptibility ISO DNA:polymorphism:exon:p.K751Q(human) RGD PMID:20127180 RGD:5688740 NCBI chrNW_004624907:2,249,323...2,263,999
Ensembl chrNW_004624907:2,250,133...2,263,947
JBrowse link
G Ido1 indoleamine 2,3-dioxygenase 1 ISO associated with pulmonary tuberculosis;protein:increased expression:blood (human) RGD PMID:32369456 RGD:39939073 NCBI chrNW_004624780:3,684,941...3,697,506
Ensembl chrNW_004624780:3,685,069...3,697,474
JBrowse link
G Ifng interferon gamma ISO ClinVar Annotator: match by term: Acquired immunodeficiency syndrome, rapid progression to ClinVar PMID:12854077 NCBI chrNW_004624802:163,261...166,534
Ensembl chrNW_004624802:163,261...166,534
JBrowse link
G Igf2 insulin like growth factor 2 ISO protein:decreased expression:plasma RGD PMID:11232005 RGD:5509969 NCBI chrNW_004624767:14,969,977...14,997,577
Ensembl chrNW_004624767:14,969,866...14,979,026
JBrowse link
G Il2 interleukin 2 ISO CTD Direct Evidence: therapeutic CTD PMID:9861562 NCBI chrNW_004624777:2,885,537...2,890,453
Ensembl chrNW_004624777:2,885,535...2,890,453
JBrowse link
G Ncr3 natural cytotoxicity triggering receptor 3 ISO protein:decreased expression:peripheral blood mononuclear cell,natural killer cell (human) RGD PMID:27382604 RGD:40818276 NCBI chrNW_004624754:24,607,623...24,612,716 JBrowse link
G Tnf tumor necrosis factor ISO RGD PMID:8548330 RGD:12904035 NCBI chrNW_004624754:24,623,059...24,625,647
Ensembl chrNW_004624754:24,623,425...24,625,531
JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A ISO RGD PMID:8548330 RGD:12904035 NCBI chrNW_004624860:3,111,244...3,123,041
Ensembl chrNW_004624860:3,111,630...3,122,711
JBrowse link
G Tnfrsf1b TNF receptor superfamily member 1B ISO RGD PMID:8548330 RGD:12904035 NCBI chrNW_004624818:894,470...922,806
Ensembl chrNW_004624818:896,150...922,710
JBrowse link
acromesomelic dysplasia-3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmpr1b bone morphogenetic protein receptor type 1B ISO ClinVar Annotator: match by term: ACROMESOMELIC DYSPLASIA 3 | ClinVar Annotator: match by term: Acromesomelic dysplasia 3 | ClinVar Annotator: match by term: Acromesomelic dysplasia, Demirhan type | ClinVar Annotator: match by term: CHONDRODYSPLASIA, ACROMESOMELIC, WITH OR WITHOUT GENITAL ANOMALIES OMIM
ClinVar
PMID:15805157 PMID:22374147 PMID:24129431 PMID:25741868 PMID:25758993 More... NCBI chrNW_004624757:22,697,639...23,142,209
Ensembl chrNW_004624757:22,955,666...23,142,499
JBrowse link
adhesions of uterus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kdr kinase insert domain receptor severity
treatment
ISO mRNA, protein:increased expression:endometrium RGD PMID:31596310 RGD:126925216 NCBI chrNW_004624761:14,330,224...14,380,680
Ensembl chrNW_004624761:14,330,489...14,379,051
JBrowse link
G Vegfa vascular endothelial growth factor A ISO mRNA, protein:increased expression:endometrium RGD PMID:31596310 RGD:126925216 NCBI chrNW_004624754:15,929,414...15,943,637 JBrowse link
AIDS Dementia Complex term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adrb2 adrenoceptor beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27400929 NCBI chrNW_004624774:8,211,723...8,215,962
Ensembl chrNW_004624774:8,211,984...8,213,240
JBrowse link
G Gc GC vitamin D binding protein ISO associated with HIV Infections;protein:increased expression:cerebrospinal fluid: RGD PMID:17929958 RGD:5509882 NCBI chrNW_004624890:3,274,239...3,318,281
Ensembl chrNW_004624890:3,226,900...3,318,316
JBrowse link
G Il1b interleukin 1 beta ISO protein:increased expression:neocortex RGD PMID:17678975 RGD:1626641 NCBI chrNW_004624749:12,852,128...12,858,478
Ensembl chrNW_004624749:12,852,021...12,858,760
JBrowse link
G Insr insulin receptor severity ISO protein:increased expression:cerebrospinal fluid, plasma RGD PMID:22629383 RGD:10403033 NCBI chrNW_004624828:345,135...485,856
Ensembl chrNW_004624828:345,135...486,184
JBrowse link
G Irs1 insulin receptor substrate 1 severity ISO protein:decreased tyrosine phosphorylation:cerebrospinal fluid, leukocyte RGD PMID:22629383 RGD:10403033 NCBI chrNW_004624843:1,113,075...1,178,859
Ensembl chrNW_004624843:1,120,974...1,178,859
JBrowse link
G Nefl neurofilament light chain ISO protein:increased expression:CSF (human)
associated with HIV Seropositivity;protein:increased expression:plasma, CSF (human)
RGD PMID:27400930 PMID:30105502 RGD:127284876 RGD:127284885 NCBI chrNW_004624758:20,063,109...20,068,459
Ensembl chrNW_004624758:20,062,685...20,068,609
JBrowse link
G Npy neuropeptide Y severity ISO protein:increased expression:cerebrospinal fluid RGD PMID:8815163 RGD:10431910 NCBI chrNW_004624739:6,277,704...6,285,454
Ensembl chrNW_004624739:6,277,612...6,285,397
JBrowse link
G Oprm1 opioid receptor mu 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27400929 NCBI chrNW_004624785:4,147,079...4,195,712
Ensembl chrNW_004624785:4,032,689...4,196,186
JBrowse link
G Pdgfb platelet derived growth factor subunit B ISO RGD PMID:21368226 RGD:6482787 NCBI chrNW_004624752:9,072,471...9,088,289
Ensembl chrNW_004624752:9,072,512...9,088,593
JBrowse link
G Slc6a4 solute carrier family 6 member 4 ISO RGD PMID:25404050 RGD:38676266 NCBI chrNW_004624786:2,673,285...2,711,432
Ensembl chrNW_004624786:2,672,552...2,710,914
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 chrNW_004624730:25,964,848...26,006,468
Ensembl chrNW_004624730:25,964,811...26,006,463
JBrowse link
G Agtr2 angiotensin II receptor type 2 ISO RGD PMID:2 RGD:1303381 NCBI chrNW_004624967:327,627...332,000
Ensembl chrNW_004624967:329,284...330,372
JBrowse link
G Mtor mechanistic target of rapamycin kinase ISO RGD PMID:23678040 RGD:7245474 NCBI chrNW_004624818:1,570,155...1,698,264
Ensembl chrNW_004624818:1,570,276...1,698,259
JBrowse link
G Myh9 myosin heavy chain 9 ISO protein:decreased expression:glomerulus RGD PMID:22313957 RGD:6903274 NCBI chrNW_004624752:11,327,881...11,414,037
Ensembl chrNW_004624752:11,327,877...11,413,669
JBrowse link
G Notch4 notch receptor 4 ISO protein: increased expression: kidney RGD PMID:20706108 RGD:6480788 NCBI chrNW_004624754:24,108,661...24,128,053 JBrowse link
G Nphs1 NPHS1 adhesion molecule, nephrin treatment ISO RGD PMID:17229913 PMID:19188342 RGD:38596324 RGD:38599164 NCBI chrNW_004624794:10,117,464...10,138,511
Ensembl chrNW_004624794:10,116,777...10,135,963
JBrowse link
AIDS-Related Kaposi Sarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bcl2 BCL2 apoptosis regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:10861090 NCBI chrNW_004624792:8,854,345...9,032,727
Ensembl chrNW_004624792:8,859,522...9,031,344
JBrowse link
AIDS-Related Opportunistic Infections term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd4 CD4 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:9546790 NCBI chrNW_004624860:3,470,886...3,492,247
Ensembl chrNW_004624860:3,470,631...3,492,846
JBrowse link
G Tnfrsf8 TNF receptor superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9379333 NCBI chrNW_004624818:957,597...996,565 JBrowse link
amenorrhea term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abhd2 abhydrolase domain containing 2, acylglycerol lipase ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004624768:16,283,369...16,404,476
Ensembl chrNW_004624768:16,297,464...16,402,624
JBrowse link
G Adamtsl3 ADAMTS like 3 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004624768:19,337,770...19,692,425
Ensembl chrNW_004624768:19,339,106...19,691,905
JBrowse link
G Adarb2 adenosine deaminase RNA specific B2 (inactive) ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004624775:9,089,839...9,646,985
Ensembl chrNW_004624775:9,090,545...9,643,355
JBrowse link
G Ahctf1 AT-hook containing transcription factor 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004624771:12,785,656...12,863,797
Ensembl chrNW_004624771:12,795,243...12,863,813
JBrowse link
G Amelx amelogenin X-linked ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004624882:3,072,970...3,083,832
Ensembl chrNW_004624882:3,072,313...3,082,505
JBrowse link
G Amfr autocrine motility factor receptor ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004624757:136,289...179,743
Ensembl chrNW_004624757:136,283...179,138
JBrowse link
G Ankrd24 ankyrin repeat domain 24 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004624828:5,410,032...5,441,824 JBrowse link
G Anos1 anosmin 1 ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:25741868 PMID:27657687 PMID:28492532 PMID:32870266 NCBI chrNW_004624834:6,125,737...6,303,205
Ensembl chrNW_004624834:6,127,371...6,303,174
JBrowse link
G Ap3b2 adaptor related protein complex 3 subunit beta 2 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004624768:18,476,562...18,507,933
Ensembl chrNW_004624768:18,476,447...18,507,998
JBrowse link
G Apba3 amyloid beta precursor protein binding family A member 3 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004624828:6,398,541...6,405,904
Ensembl chrNW_004624828:6,398,622...6,403,984
JBrowse link
G Apc APC regulator of WNT signaling pathway ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004624743:30,517,034...30,635,740
Ensembl chrNW_004624743:30,546,323...30,635,737
JBrowse link
G Arhgap6 Rho GTPase activating protein 6 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004624882:2,706,827...3,211,600
Ensembl chrNW_004624882:2,708,089...3,211,766
JBrowse link
G Arsa arylsulfatase A ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004624752:149,248...153,625
Ensembl chrNW_004624752:149,187...153,746
JBrowse link
G Asmtl acetylserotonin O-methyltransferase like ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004624834:660,932...675,471
Ensembl chrNW_004624834:660,803...675,505
JBrowse link
G Atcay ATCAY kinesin light chain interacting caytaxin ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004624828:6,471,452...6,495,142
Ensembl chrNW_004624828:6,471,460...6,495,142
JBrowse link
G Atp10b ATPase phospholipid transporting 10B (putative) ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004624733:28,618,696...28,944,804
Ensembl chrNW_004624733:28,841,329...28,946,717
JBrowse link
G Aven apoptosis and caspase activation inhibitor ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004624804:267,128...468,544
Ensembl chrNW_004624804:305,668...465,998
JBrowse link
G Axl AXL receptor tyrosine kinase ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:25741868 PMID:28492532 PMID:32870266 NCBI chrNW_004624907:76,236...106,765
Ensembl chrNW_004624907:77,806...106,228
JBrowse link
G Bcap29 B cell receptor associated protein 29 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004624739:22,122,859...22,171,621
Ensembl chrNW_004624739:22,121,480...22,171,589
JBrowse link
G Bmp15 bone morphogenetic protein 15 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004624893:3,014,535...3,020,862
Ensembl chrNW_004624893:3,014,989...3,021,746
JBrowse link
G Bmp4 bone morphogenetic protein 4 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004624731:15,262,480...15,269,196
Ensembl chrNW_004624731:15,263,274...15,269,743
JBrowse link
G Bnc1 basonuclin zinc finger protein 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004624768:19,011,971...19,035,717
Ensembl chrNW_004624768:19,013,480...19,024,025
JBrowse link
G Btbd1 BTB domain containing 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004624768:18,796,734...18,833,477 JBrowse link
G Capza1 capping actin protein of muscle Z-line subunit alpha 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004624772:8,407,883...8,455,734 JBrowse link
G Ccdc148 coiled-coil domain containing 148 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004624732:7,209,179...7,622,950
Ensembl chrNW_004624732:7,314,517...7,557,047
JBrowse link
G Ccser1 coiled-coil serine rich protein 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004624757:17,926,351...19,299,575
Ensembl chrNW_004624757:17,926,909...18,705,413
JBrowse link
G Cdk13 cyclin dependent kinase 13 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004624740:21,100,780...21,202,147
Ensembl chrNW_004624740:21,105,212...21,202,111
JBrowse link
G Chaf1a chromatin assembly factor 1 subunit A ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004624828:5,266,676...5,302,061
Ensembl chrNW_004624828:5,266,932...5,302,067
JBrowse link
G Chd7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:18414213 PMID:21158681 PMID:22539353 PMID:24033266 PMID:25077900 More... NCBI chrNW_004624744:31,103,053...31,302,314
Ensembl chrNW_004624744:31,103,059...31,235,623
JBrowse link
G Cntln centlein ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004624736:21,163,787...21,500,649
Ensembl chrNW_004624736:21,163,845...21,499,031
JBrowse link
G Cpb2 carboxypeptidase B2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16167916 NCBI chrNW_004624748:8,850,128...8,927,986
Ensembl chrNW_004624748:8,849,900...8,928,853
JBrowse link
G Cpeb1 cytoplasmic polyadenylation element binding protein 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004624768:18,386,415...18,468,879 JBrowse link
G Creb3l3 cAMP responsive element binding protein 3 like 3 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004624828:5,450,265...5,468,079 JBrowse link
G CUNH15orf40 chromosome unknown C15orf40 homolog ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004624768:18,762,266...18,782,591
Ensembl chrNW_004624768:18,777,797...18,782,227
JBrowse link
G Dapk3 death associated protein kinase 3 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004624828:5,616,839...5,626,849
Ensembl chrNW_004624828:5,621,696...5,625,601
JBrowse link
G Dcc DCC netrin 1 receptor ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:24808016 PMID:25741868 PMID:32870266 NCBI chrNW_004624778:15,979,350...17,225,263
Ensembl chrNW_004624778:15,979,467...17,222,039
JBrowse link
G Ddx1 DEAD-box helicase 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004624865:898,850...927,375
Ensembl chrNW_004624865:898,850...928,091
JBrowse link
G Dennd6a DENN domain containing 6A ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004624821:374,615...446,656
Ensembl chrNW_004624821:376,525...446,583
JBrowse link
G Diaph2 diaphanous related formin 2 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004624851:3,291,888...4,329,285 JBrowse link
G Dlc1 DLC1 Rho GTPase activating protein ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004624839:3,495,580...3,899,009
Ensembl chrNW_004624839:3,509,441...3,899,162
JBrowse link
G Dmxl2 Dmx like 2 ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:28492532 PMID:32870266 NCBI chrNW_004624731:8,702,288...8,843,807
Ensembl chrNW_004624731:8,702,137...8,842,653
JBrowse link
G Dusp19 dual specificity phosphatase 19 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004624844:4,798,542...4,822,739
Ensembl chrNW_004624844:4,798,455...4,818,818
JBrowse link
G Dusp22 dual specificity phosphatase 22 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004624756:23,968,148...24,017,340
Ensembl chrNW_004624756:23,968,017...24,017,332
JBrowse link
G Ebi3 Epstein-Barr virus induced 3 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004624828:5,402,589...5,409,914
Ensembl chrNW_004624828:5,402,961...5,407,891
JBrowse link
G Eef2 eukaryotic translation elongation factor 2 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004624828:5,601,906...5,609,978
Ensembl chrNW_004624828:5,601,444...5,611,405
JBrowse link
G Eri1 exoribonuclease 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004624839:5,090,187...5,119,985
Ensembl chrNW_004624839:5,090,369...5,118,775
JBrowse link
G Fam120b family with sequence similarity 120 member B ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004624850:6,156,155...6,253,609
Ensembl chrNW_004624850:6,165,175...6,253,695
JBrowse link
G Fezf1 FEZ family zinc finger 1 ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:32870266 NCBI chrNW_004624783:13,715,987...13,719,287
Ensembl chrNW_004624783:13,713,422...13,718,604
JBrowse link
G Fgfr1 fibroblast growth factor receptor 1 ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:32870266 NCBI chrNW_004624780:5,161,245...5,212,641
Ensembl chrNW_004624780:5,161,073...5,213,870
JBrowse link
G Fhit fragile histidine triad diadenosine triphosphatase ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004624822:6,621,609...8,069,590
Ensembl chrNW_004624822:6,621,909...7,380,047
JBrowse link
G Flrt3 fibronectin leucine rich transmembrane protein 3 ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:32870266 NCBI chrNW_004624741:15,343,304...15,355,742
Ensembl chrNW_004624741:15,343,653...15,355,727
JBrowse link
G Fsd1 fibronectin type III and SPRY domain containing 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004624828:5,347,861...5,359,825
Ensembl chrNW_004624828:5,344,068...5,359,906
JBrowse link
G Fsd2 fibronectin type III and SPRY domain containing 2 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004624768:18,533,159...18,601,139
Ensembl chrNW_004624768:18,535,062...18,586,449
JBrowse link
G Fshb follicle stimulating hormone subunit beta ISO follicle-stimulating hormone deficiency,OMIM:229070;DNA:frameshift
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:8220432 RGD:1601221 NCBI chrNW_004624766:19,328,730...19,332,385
Ensembl chrNW_004624766:19,329,371...19,331,267
JBrowse link
G Fshr follicle stimulating hormone receptor ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:25741868 NCBI chrNW_004624738:30,170,514...30,369,250
Ensembl chrNW_004624738:30,176,817...30,369,166
JBrowse link
G Fzd6 frizzled class receptor 6 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004624763:19,861,837...19,888,626 JBrowse link
G Gabrb2 gamma-aminobutyric acid type A receptor subunit beta2 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004624733:28,022,632...28,236,211
Ensembl chrNW_004624733:28,022,635...28,230,865
JBrowse link
G Gadl1 glutamate decarboxylase like 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004624788:8,577,832...8,753,989
Ensembl chrNW_004624788:8,577,761...8,754,206
JBrowse link
G Gnrh1 gonadotropin releasing hormone 1 ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:32870266 NCBI chrNW_004624758:20,447,413...20,451,059
Ensembl chrNW_004624758:20,447,583...20,450,968
JBrowse link
G Gnrhr gonadotropin releasing hormone receptor ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:9371856 PMID:9425890 PMID:10022417 PMID:10084584 PMID:10523035 More... NCBI chrNW_004624761:1,216,501...1,231,229
Ensembl chrNW_004624761:1,216,556...1,225,994
JBrowse link
G Gpbp1l1 GC-rich promoter binding protein 1 like 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004624906:1,526,619...1,577,229 JBrowse link
G Gpr37l1 G protein-coupled receptor 37 like 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004624807:8,605,488...8,611,760
Ensembl chrNW_004624807:8,605,488...8,611,669
JBrowse link
G Gtf2h2 general transcription factor IIH subunit 2 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004624905:395,922...421,203 JBrowse link
G Gxylt1 glucoside xylosyltransferase 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004624917:1,904,987...1,968,657
Ensembl chrNW_004624917:1,909,156...1,968,608
JBrowse link
G Hesx1 HESX homeobox 1 ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:21325470 PMID:23465708 PMID:24703149 PMID:25741868 PMID:28492532 More... NCBI chrNW_004624822:74,344...102,484
Ensembl chrNW_004624822:74,373...101,828
JBrowse link
G Homer2 homer scaffold protein 2 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004624768:18,626,353...18,751,279
Ensembl chrNW_004624768:18,635,283...18,721,984
JBrowse link
G Ipp intracisternal A particle-promoted polypeptide ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004624906:1,585,741...1,628,375
Ensembl chrNW_004624906:1,588,909...1,628,301
JBrowse link
G Kbtbd12 kelch repeat and BTB domain containing 12 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004624974:263,569...317,211
Ensembl chrNW_004624974:262,913...317,308
JBrowse link
G Kl klotho ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:25741868 PMID:32870266 NCBI chrNW_004624915:95,155...110,834 JBrowse link
G Klb klotho beta ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:32870266 NCBI chrNW_004624870:4,835,943...4,901,965
Ensembl chrNW_004624870:4,836,473...4,885,950
JBrowse link
G Lhx3 LIM homeobox 3 ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:32870266 NCBI chrNW_004624760:1,428,496...1,435,414
Ensembl chrNW_004624760:1,429,384...1,435,414
JBrowse link
G LOC101702005 aromatase ISO CTD Direct Evidence: marker/mechanism CTD PMID:8265607 NCBI chrNW_004624731:9,053,644...9,100,212
Ensembl chrNW_004624731:9,053,803...9,100,212
JBrowse link
G LOC101712555 NADPH--cytochrome P450 reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:14758361 NCBI chrNW_004624740:14,739,458...14,790,736
Ensembl chrNW_004624740:14,733,427...14,791,065
JBrowse link
G LOC101722366 cytochrome P450 2E1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004624737:12,335,733...12,345,278
Ensembl chrNW_004624737:12,335,681...12,345,514
JBrowse link
G LOC101726496 steroid 17-alpha-hydroxylase/17,20 lyase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18645707 NCBI chrNW_004624831:2,155,851...2,166,621
Ensembl chrNW_004624831:2,157,048...2,166,539
JBrowse link
G Lrg1 leucine rich alpha-2-glycoprotein 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004624828:5,204,031...5,207,097
Ensembl chrNW_004624828:5,203,969...5,207,387
JBrowse link
G Lrig2 leucine rich repeats and immunoglobulin like domains 2 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004624772:8,809,226...8,873,614
Ensembl chrNW_004624772:8,809,443...8,868,282
JBrowse link
G Macrod2 mono-ADP ribosylhydrolase 2 ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:32870266 NCBI chrNW_004624741:14,998,007...17,256,372
Ensembl chrNW_004624741:14,998,305...17,252,759
JBrowse link
G Map2k2 mitogen-activated protein kinase kinase 2 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004624828:5,489,085...5,511,166
Ensembl chrNW_004624828:5,488,814...5,511,445
JBrowse link
G Mast2 microtubule associated serine/threonine kinase 2 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004624906:1,668,877...1,949,466
Ensembl chrNW_004624906:1,668,923...1,949,466
JBrowse link
G Matk megakaryocyte-associated tyrosine kinase ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004624828:6,414,859...6,420,924
Ensembl chrNW_004624828:6,415,120...6,419,822
JBrowse link
G Mgll monoglyceride lipase ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004624974:85,513...169,904
Ensembl chrNW_004624974:87,600...170,228
JBrowse link
G Mov10 Mov10 RNA helicase ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004624772:8,458,470...8,481,462
Ensembl chrNW_004624772:8,459,517...8,484,972
JBrowse link
G Mpnd MPN domain containing ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004624828:5,330,536...5,337,973
Ensembl chrNW_004624828:5,328,783...5,337,946
JBrowse link
G Mrpl54 mitochondrial ribosomal protein L54 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004624828:6,405,998...6,409,721
Ensembl chrNW_004624828:6,406,083...6,409,326
JBrowse link
G Msl3 MSL complex subunit 3 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004624882:2,594,453...2,614,076
Ensembl chrNW_004624882:2,591,308...2,613,049
JBrowse link
G Mycn MYCN proto-oncogene, bHLH transcription factor ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004624865:780,163...785,776 JBrowse link
G Naip NLR family apoptosis inhibitory protein ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004624905:437,799...485,774 JBrowse link
G Nbas NBAS subunit of NRZ tethering complex ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004624865:937,495...1,208,663
Ensembl chrNW_004624865:961,587...1,212,950
JBrowse link
G Ncam2 neural cell adhesion molecule 2 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004624745:9,327,125...9,826,922
Ensembl chrNW_004624745:9,327,345...9,822,852
JBrowse link
G Nckap5 NCK associated protein 5 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004624732:32,075,335...32,992,428
Ensembl chrNW_004624732:32,072,125...32,730,105
JBrowse link
G Nkx2-6 NK2 homeobox 6 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004624758:18,908,988...18,914,794
Ensembl chrNW_004624758:18,911,010...18,914,001
JBrowse link
G Nkx3-1 NK3 homeobox 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004624758:18,874,399...18,876,982
Ensembl chrNW_004624758:18,875,475...18,876,971
JBrowse link
G Nmrk2 nicotinamide riboside kinase 2 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004624828:6,501,057...6,506,182
Ensembl chrNW_004624828:6,501,212...6,506,339
JBrowse link
G Nup35 nucleoporin 35 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004624844:4,824,240...4,854,814
Ensembl chrNW_004624844:4,824,344...4,854,808
JBrowse link
G Ocln occludin ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004624905:333,853...388,990
Ensembl chrNW_004624905:333,864...388,880
JBrowse link
G Otud4 OTU deubiquitinase 4 ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:25741868 PMID:32870266 NCBI chrNW_004624853:4,091,591...4,145,344
Ensembl chrNW_004624853:4,091,316...4,140,201
JBrowse link
G P2ry8 P2Y receptor family member 8 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004624834:686,801...708,251 JBrowse link
G Pcsk5 proprotein convertase subtilisin/kexin type 5 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004624811:3,453,218...3,862,970 JBrowse link
G Pias4 protein inhibitor of activated STAT 4 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004624828:5,551,538...5,572,647
Ensembl chrNW_004624828:5,551,749...5,572,570
JBrowse link
G Plin5 perilipin 5 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004624828:5,208,060...5,218,553
Ensembl chrNW_004624828:5,207,937...5,218,901
JBrowse link
G Pnpla4 patatin like phospholipase domain containing 4 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004624834:5,497,109...5,529,912
Ensembl chrNW_004624834:5,496,617...5,528,555
JBrowse link
G Pnpla6 patatin like phospholipase domain containing 6 ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:28492532 PMID:32870266 NCBI chrNW_004624828:643,552...664,665
Ensembl chrNW_004624828:643,471...664,665
JBrowse link
G Polr3b RNA polymerase III subunit B ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:22855961 PMID:25133958 PMID:25741868 PMID:27029625 PMID:27512013 More... NCBI chrNW_004624750:2,906,041...3,004,241
Ensembl chrNW_004624750:2,905,747...3,004,237
JBrowse link
G Ppm1j protein phosphatase, Mg2+/Mn2+ dependent 1J ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004624772:8,491,020...8,496,183
Ensembl chrNW_004624772:8,491,030...8,496,156
JBrowse link
G Prkaa1 protein kinase AMP-activated catalytic subunit alpha 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004624759:14,143,439...14,174,971
Ensembl chrNW_004624759:14,142,956...14,171,718
JBrowse link
G Prl prolactin ISO CTD Direct Evidence: marker/mechanism CTD PMID:6777091 NCBI chrNW_004624756:4,585,542...4,593,285 JBrowse link
G Prok2 prokineticin 2 ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:32870266 NCBI chrNW_004624773:6,310,025...6,323,245
Ensembl chrNW_004624773:6,307,653...6,323,208
JBrowse link
G Prokr2 prokineticin receptor 2 ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:17054399 PMID:18682503 PMID:18826963 PMID:20022991 PMID:22466334 More... NCBI chrNW_004624741:6,270,098...6,281,147
Ensembl chrNW_004624741:6,270,002...6,281,182
JBrowse link
G Prop1 PROP paired-like homeobox 1 ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:28492532 PMID:32870266 PMID:36407308 PMID:38096238 NCBI chrNW_004624733:41,852,638...41,856,493
Ensembl chrNW_004624733:41,850,474...41,856,459
JBrowse link
G Psmb1 proteasome 20S subunit beta 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004624850:6,339,918...6,357,925
Ensembl chrNW_004624850:6,337,094...6,357,997
JBrowse link
G Ptchd1 patched domain containing 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004624829:8,458,430...8,513,011
Ensembl chrNW_004624829:8,458,628...8,512,511
JBrowse link
G Pudp pseudouridine 5'-phosphatase ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004624834:4,742,359...4,806,432
Ensembl chrNW_004624834:4,743,541...4,801,896
JBrowse link
G Rab3gap1 RAB3 GTPase activating protein catalytic subunit 1 ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:32870266 NCBI chrNW_004624732:34,450,616...34,593,675
Ensembl chrNW_004624732:34,450,630...34,593,675
JBrowse link
G Rab3gap2 RAB3 GTPase activating non-catalytic protein subunit 2 ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:25741868 PMID:28492532 PMID:32870266 NCBI chrNW_004624835:3,764,480...3,826,271
Ensembl chrNW_004624835:3,765,114...3,826,155
JBrowse link
G Ramac RNA guanine-7 methyltransferase activating subunit ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004624768:18,760,597...18,765,389 JBrowse link
G Rhoc ras homolog family member C ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004624772:8,481,826...8,487,530
Ensembl chrNW_004624772:8,479,015...8,486,171
JBrowse link
G Rreb1 ras responsive element binding protein 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004624756:18,259,884...18,383,344
Ensembl chrNW_004624756:18,259,884...18,382,648
JBrowse link
G Ryr3 ryanodine receptor 3 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004624804:467,207...1,030,873
Ensembl chrNW_004624804:467,295...1,030,212
JBrowse link
G Sema3a semaphorin 3A ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:22927827 PMID:25741868 PMID:28492532 PMID:32870266 NCBI chrNW_004624739:32,104,014...32,426,980
Ensembl chrNW_004624739:32,105,824...32,309,271
JBrowse link
G Sema3e semaphorin 3E ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:25741868 PMID:28492532 PMID:32870266 NCBI chrNW_004624739:31,606,128...31,851,624
Ensembl chrNW_004624739:31,608,501...31,716,640
JBrowse link
G Sema6b semaphorin 6B ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004624828:5,170,745...5,193,568
Ensembl chrNW_004624828:5,182,812...5,192,486
JBrowse link
G Sh3gl1 SH3 domain containing GRB2 like 1, endophilin A2 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004624828:5,304,887...5,330,440
Ensembl chrNW_004624828:5,305,070...5,330,440
JBrowse link
G Sh3gl3 SH3 domain containing GRB2 like 3, endophilin A3 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004624768:19,168,922...19,320,366
Ensembl chrNW_004624768:19,168,951...19,321,184
JBrowse link
G Shank3 SH3 and multiple ankyrin repeat domains 3 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004624752:72,545...127,321
Ensembl chrNW_004624752:72,615...127,325
JBrowse link
G Shd Src homology 2 domain containing transforming protein D ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004624828:5,368,153...5,376,086
Ensembl chrNW_004624828:5,368,029...5,375,702
JBrowse link
G Sirt6 sirtuin 6 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004624828:5,441,973...5,449,549
Ensembl chrNW_004624828:5,442,057...5,451,520
JBrowse link
G Slc5a5 solute carrier family 5 member 5 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004624908:1,401,812...1,410,471
Ensembl chrNW_004624908:1,401,829...1,409,538
JBrowse link
G Slmap sarcolemma associated protein ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004624821:493,902...638,553
Ensembl chrNW_004624821:493,735...639,801
JBrowse link
G Smyd3 SET and MYND domain containing 3 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004624771:13,149,547...13,943,352
Ensembl chrNW_004624771:13,149,649...13,943,137
JBrowse link
G Sox2 SRY-box transcription factor 2 ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:28492532 PMID:32870266 NCBI chrNW_004624730:59,570,879...59,573,001
Ensembl chrNW_004624730:59,570,915...59,571,871
JBrowse link
G Spry4 sprouty RTK signaling antagonist 4 ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:23643382 PMID:24033266 PMID:28492532 PMID:32870266 NCBI chrNW_004624774:1,508,315...1,523,456 JBrowse link
G Stap2 signal transducing adaptor family member 2 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004624828:5,339,041...5,347,631
Ensembl chrNW_004624828:5,340,130...5,347,551
JBrowse link
G Sts steroid sulfatase ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004624834:4,805,556...4,975,264
Ensembl chrNW_004624834:4,853,045...4,978,111
JBrowse link
G Syce1 synaptonemal complex central element protein 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004624737:12,290,317...12,297,823
Ensembl chrNW_004624737:12,290,276...12,297,924
JBrowse link
G Tacr3 tachykinin receptor 3 ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:32870266 NCBI chrNW_004624830:4,635,987...4,704,251 JBrowse link
G Tafa3 TAFA chemokine like family member 3 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004624772:8,495,509...8,505,585
Ensembl chrNW_004624772:8,502,094...8,505,469
JBrowse link
G Tbp TATA-box binding protein ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004624850:6,359,382...6,375,391
Ensembl chrNW_004624850:6,359,418...6,375,391
JBrowse link
G Tjp3 tight junction protein 3 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004624828:6,374,678...6,398,483
Ensembl chrNW_004624828:6,383,767...6,398,359
JBrowse link
G Tm6sf1 transmembrane 6 superfamily member 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004624768:18,870,074...18,899,859
Ensembl chrNW_004624768:18,870,076...18,895,623
JBrowse link
G Tmem69 transmembrane protein 69 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004624906:1,577,993...1,583,380
Ensembl chrNW_004624906:1,581,018...1,584,166
JBrowse link
G Tmigd2 transmembrane and immunoglobulin domain containing 2 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004624828:5,363,038...5,367,301 JBrowse link
G Tp63 tumor protein p63 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004624730:67,283,444...67,489,808
Ensembl chrNW_004624730:67,286,160...67,489,670
JBrowse link
G Tshz2 teashirt zinc finger homeobox 2 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004624790:2,701,417...3,134,721
Ensembl chrNW_004624790:2,709,320...3,134,203
JBrowse link
G Ubxn6 UBX domain protein 6 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004624828:5,257,960...5,265,371
Ensembl chrNW_004624828:5,258,023...5,264,989
JBrowse link
G Vldlr very low density lipoprotein receptor ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004624736:7,280,478...7,316,897
Ensembl chrNW_004624736:7,280,490...7,316,946
JBrowse link
G Wdr11 WD repeat domain 11 ISO ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:32870266 NCBI chrNW_004624737:25,762,289...25,818,161
Ensembl chrNW_004624737:25,763,023...25,818,199
JBrowse link
G Wdr37 WD repeat domain 37 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004624775:9,768,568...9,858,085
Ensembl chrNW_004624775:9,768,397...9,857,837
JBrowse link
G Whamm WASP homolog associated with actin, golgi membranes and microtubules ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004624768:18,600,592...18,623,942
Ensembl chrNW_004624768:18,600,675...18,621,693
JBrowse link
G Xpo1 exportin 1 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004624833:375,817...424,499
Ensembl chrNW_004624833:375,820...424,499
JBrowse link
G Yaf2 YY1 associated factor 2 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004624917:1,975,472...2,074,305
Ensembl chrNW_004624917:1,978,168...2,074,149
JBrowse link
G Yju2 YJU2 splicing factor homolog ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004624828:5,381,387...5,397,893
Ensembl chrNW_004624828:5,381,617...5,397,782
JBrowse link
G Zbtb7a zinc finger and BTB domain containing 7A ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004624828:5,529,351...5,548,481
Ensembl chrNW_004624828:5,530,543...5,545,902
JBrowse link
G Zfr2 zinc finger RNA binding protein 2 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004624828:6,432,167...6,464,781 JBrowse link
G Znf217 zinc finger protein 217 ISO ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chrNW_004624790:2,634,571...2,668,191
Ensembl chrNW_004624790:2,655,806...2,668,499
JBrowse link
anogenital venereal wart term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccl20 C-C motif chemokine ligand 20 ISO protein:decreased expression:skin RGD PMID:17545018 RGD:7483603 NCBI chrNW_004624843:2,017,738...2,021,153 JBrowse link
G Cd8a CD8 subunit alpha ISO mRNA:decreased expression:zone of skin (human) RGD PMID:25774455 RGD:36174028 NCBI chrNW_004624749:16,564,944...16,569,890 JBrowse link
G Ctla4 cytotoxic T-lymphocyte associated protein 4 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chrNW_004624765:12,449,205...12,454,324
Ensembl chrNW_004624765:12,449,205...12,454,324
JBrowse link
G Foxp3 forkhead box P3 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chrNW_004624893:995,145...1,008,492
Ensembl chrNW_004624893:995,182...1,008,679
JBrowse link
G Il10 interleukin 10 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chrNW_004624807:4,687,249...4,691,658
Ensembl chrNW_004624807:4,687,176...4,691,732
JBrowse link
G Il12b interleukin 12B treatment ISO protein:decreased expression:peripheral blood mononuclear cells (human) RGD PMID:16114559 PMID:23754510 RGD:40400714 RGD:7829774 NCBI chrNW_004624733:30,146,050...30,156,144
Ensembl chrNW_004624733:30,146,050...30,154,589
JBrowse link
G Il2 interleukin 2 ISO protein:decreased expression:peripheral blood mononuclear cells (human) RGD PMID:23754510 RGD:40400714 NCBI chrNW_004624777:2,885,537...2,890,453
Ensembl chrNW_004624777:2,885,535...2,890,453
JBrowse link
G Il21 interleukin 21 ISO protein:decreased expression:blood serum (human) RGD PMID:31414711 RGD:127285371 NCBI chrNW_004624777:3,054,368...3,061,304
Ensembl chrNW_004624777:3,054,368...3,061,304
JBrowse link
G Il4 interleukin 4 treatment ISO protein:increased expression:peripheral blood mononuclear cells (human) RGD PMID:16114559 PMID:23754510 RGD:40400714 RGD:7829774 NCBI chrNW_004624733:39,412,800...39,420,079 JBrowse link
G Il6 interleukin 6 ISO protein:decreased expression:peripheral blood mononuclear cells (human) RGD PMID:23754510 RGD:40400714 NCBI chrNW_004624739:7,957,709...7,963,414
Ensembl chrNW_004624739:7,957,674...7,962,318
JBrowse link
G Mapk8 mitogen-activated protein kinase 8 treatment ISO mRNA:increased expression:zone of skin (human) RGD PMID:25774455 RGD:36174028 NCBI chrNW_004624928:1,442,216...1,494,275
Ensembl chrNW_004624928:1,439,146...1,494,266
JBrowse link
G Myd88 MYD88 innate immune signal transduction adaptor ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chrNW_004624731:2,677,259...2,681,408
Ensembl chrNW_004624731:2,677,290...2,681,489
JBrowse link
G Pdcd1 programmed cell death 1 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chrNW_004624847:5,732,922...5,741,908
Ensembl chrNW_004624847:5,732,767...5,742,269
JBrowse link
G Ptpn11 protein tyrosine phosphatase non-receptor type 11 ISO protein:increased expression:foreskin RGD PMID:18543080 RGD:39128248 NCBI chrNW_004624747:19,721,581...19,813,639
Ensembl chrNW_004624747:19,721,468...19,813,670
JBrowse link
G Ptpn6 protein tyrosine phosphatase non-receptor type 6 ISO protein:increased expression:foreskin RGD PMID:18543080 RGD:39128248 NCBI chrNW_004624860:3,580,225...3,595,403
Ensembl chrNW_004624860:3,580,560...3,595,090
JBrowse link
G Serpinf1 serpin family F member 1 disease_progression ISO mRNA, protein:decreased expression:skin of body (human) RGD PMID:23569025 RGD:27226706 NCBI chrNW_004624786:4,487,005...4,497,706
Ensembl chrNW_004624786:4,486,978...4,497,585
JBrowse link
G Tgfb1 transforming growth factor beta 1 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chrNW_004624907:162,567...175,696
Ensembl chrNW_004624907:161,569...176,605
JBrowse link
G Tlr2 toll like receptor 2 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chrNW_004624858:4,931,820...4,984,175
Ensembl chrNW_004624858:4,979,485...4,981,833
JBrowse link
G Tlr3 toll like receptor 3 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chrNW_004624769:16,925,969...16,945,250
Ensembl chrNW_004624769:16,925,984...16,941,196
JBrowse link
G Tlr4 toll like receptor 4 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chrNW_004624760:17,596,516...17,608,955
Ensembl chrNW_004624760:17,598,630...17,609,120
JBrowse link
G Tlr7 toll like receptor 7 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chrNW_004624882:1,375,216...1,379,705 JBrowse link
G Tlr8 toll like receptor 8 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chrNW_004624882:1,240,519...1,247,311
Ensembl chrNW_004624882:1,240,626...1,312,468
JBrowse link
G Tnf tumor necrosis factor ISO protein:increased expression:peripheral blood mononuclear cells (human) RGD PMID:23754510 RGD:40400714 NCBI chrNW_004624754:24,623,059...24,625,647
Ensembl chrNW_004624754:24,623,425...24,625,531
JBrowse link
G Tnfrsf18 TNF receptor superfamily member 18 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chrNW_004624818:8,376,204...8,380,266
Ensembl chrNW_004624818:8,378,131...8,379,974
JBrowse link
anovulation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nr5a2 nuclear receptor subfamily 5 group A member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18628394 NCBI chrNW_004624798:356,953...494,877 JBrowse link
Anterior Diaphragmatic Hernia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pls3 plastin 3 ISO ClinVar Annotator: match by term: Hernia, anterior diaphragmatic OMIM
ClinVar
PMID:25741868 PMID:37751738 NCBI chrNW_004624940:120,073...216,522
Ensembl chrNW_004624940:120,073...216,622
JBrowse link
Asthenozoospermia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bscl2 BSCL2 lipid droplet biogenesis associated, seipin ISO CTD Direct Evidence: marker/mechanism CTD PMID:26181198 NCBI chrNW_004624926:1,189,990...1,197,220
Ensembl chrNW_004624926:1,190,072...1,196,076
JBrowse link
G Cfap251 cilia and flagella associated protein 251 ISO ClinVar Annotator: match by term: asthenozoospermia ClinVar PMID:30122541 NCBI chrNW_004624747:22,248,676...22,295,733
Ensembl chrNW_004624747:22,249,655...22,299,955
JBrowse link
G Fam83f family with sequence similarity 83 member F ISO ClinVar Annotator: match by term: asthenozoospermia ClinVar PMID:25741868 NCBI chrNW_004624752:8,403,619...8,438,975
Ensembl chrNW_004624752:8,406,436...8,438,950
JBrowse link
G Plau plasminogen activator, urokinase ISO CTD Direct Evidence: marker/mechanism
mRNA, protein:decreased expression:testes, epididymis (rat)
CTD
RGD
PMID:18998460 RGD:7241809 NCBI chrNW_004624754:7,405,637...7,415,870
Ensembl chrNW_004624754:7,408,983...7,416,559
JBrowse link
autosomal recessive congenital bilateral absence of vas deferens term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adgrg2 adhesion G protein-coupled receptor G2 ISO ClinVar Annotator: match by term: Congenital bilateral aplasia of vas deferens from CFTR mutation ClinVar PMID:25741868 PMID:27476656 NCBI chrNW_004624829:3,785,682...3,916,595
Ensembl chrNW_004624829:3,787,207...3,867,846
JBrowse link
G Cftr CF transmembrane conductance regulator ISO ClinVar Annotator: match by term: Congenital bilateral aplasia of vas deferens from CFTR mutation OMIM
ClinVar
PMID:754013 PMID:1282016 PMID:1283148 PMID:1283149 PMID:1284466 More... NCBI chrNW_004624827:1,704,733...1,893,579 JBrowse link
Axenfeld-Rieger syndrome type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alpk1 alpha kinase 1 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chrNW_004624838:6,273,398...6,288,363
Ensembl chrNW_004624838:6,229,899...6,287,920
JBrowse link
G Ank2 ankyrin 2 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chrNW_004624838:6,490,434...7,023,945
Ensembl chrNW_004624838:6,548,159...7,023,945
JBrowse link
G Ap1ar adaptor related protein complex 1 associated regulatory protein ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chrNW_004624838:6,129,073...6,157,971
Ensembl chrNW_004624838:6,129,771...6,157,962
JBrowse link
G Fam241a family with sequence similarity 241 member A ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chrNW_004624838:6,036,474...6,068,772 JBrowse link
G Hmgn2 high mobility group nucleosomal binding domain 2 ISO OMIM:180500 MouseDO NCBI chrNW_004624764:10,477,276...10,480,980 JBrowse link
G Larp7 La ribonucleoprotein 7, transcriptional regulator ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chrNW_004624838:6,331,393...6,426,151
Ensembl chrNW_004624838:6,413,494...6,425,939
JBrowse link
G Neurog2 neurogenin 2 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chrNW_004624838:6,324,036...6,325,511 JBrowse link
G Pitx2 paired like homeodomain 2 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 OMIM
ClinVar
PMID:8944018 PMID:9536098 PMID:9685346 PMID:10490637 PMID:11301317 More... NCBI chrNW_004624838:4,872,279...4,889,780
Ensembl chrNW_004624838:4,871,511...4,886,384
JBrowse link
G Prdm5 PR/SET domain 5 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:26489929 NCBI chrNW_004624777:675,215...893,125
Ensembl chrNW_004624777:676,965...893,047
JBrowse link
G Tifa TRAF interacting protein with forkhead associated domain ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chrNW_004624838:6,160,712...6,167,408 JBrowse link
azoospermia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alb albumin ISO CTD Direct Evidence: therapeutic CTD PMID:27289041 NCBI chrNW_004624735:34,105,237...34,123,479
Ensembl chrNW_004624735:34,104,537...34,123,624
JBrowse link
G Bcl2 BCL2 apoptosis regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:20610805 NCBI chrNW_004624792:8,854,345...9,032,727
Ensembl chrNW_004624792:8,859,522...9,031,344
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 chrNW_004624742:5,730,805...5,798,731
Ensembl chrNW_004624742:5,727,939...5,798,809
JBrowse link
G Bscl2 BSCL2 lipid droplet biogenesis associated, seipin ISO RGD PMID:25934999 RGD:11085488 NCBI chrNW_004624926:1,189,990...1,197,220
Ensembl chrNW_004624926:1,190,072...1,196,076
JBrowse link
G Cftr CF transmembrane conductance regulator ISO ClinVar Annotator: match by term: Obstructive azoospermia ClinVar PMID:1283148 PMID:1284534 PMID:1284535 PMID:1284639 PMID:1370875 More... NCBI chrNW_004624827:1,704,733...1,893,579 JBrowse link
G CUNH14orf39 chromosome unknown C14orf39 homolog ISO ClinVar Annotator: match by term: Azoospermia ClinVar PMID:33508233 NCBI chrNW_004624734:40,656,054...40,701,404
Ensembl chrNW_004624734:40,656,132...40,702,148
JBrowse link
G Ddx25 DEAD-box helicase 25 ISO ClinVar Annotator: match by term: Azoospermia ClinVar NCBI chrNW_004624812:53,129...74,073
Ensembl chrNW_004624812:52,368...74,149
JBrowse link
G Dmc1 DNA meiotic recombinase 1 ISO ClinVar Annotator: match by term: Azoospermia ClinVar NCBI chrNW_004624752:9,547,327...9,585,549
Ensembl chrNW_004624752:9,548,015...9,585,958
JBrowse link
G Epas1 endothelial PAS domain protein 1 ISO RGD PMID:14608355 RGD:734934 NCBI chrNW_004624738:27,747,770...27,831,213
Ensembl chrNW_004624738:27,747,696...27,834,054
JBrowse link
G Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit susceptibility ISO DNA:snp:3' utr:c.8092C>A (human) RGD PMID:18616887 RGD:13207429 NCBI chrNW_004624907:2,288,380...2,298,909
Ensembl chrNW_004624907:2,288,423...2,298,373
JBrowse link
G Fahd1 fumarylacetoacetate hydrolase domain containing 1 ISO ClinVar Annotator: match by term: Azoospermia ClinVar NCBI chrNW_004624913:432,780...434,359 JBrowse link
G Fancm FA complementation group M ISO ClinVar Annotator: match by term: Azoospermia ClinVar PMID:17289582 PMID:18174376 PMID:19379763 PMID:23409019 PMID:23932590 More... NCBI chrNW_004624731:23,342,313...23,391,877
Ensembl chrNW_004624731:23,340,460...23,392,040
JBrowse link
G Gcna germ cell nuclear acidic peptidase ISO ClinVar Annotator: match by term: Azoospermia ClinVar PMID:35172124 NCBI chrNW_004624903:1,914,124...1,954,710 JBrowse link
G Gopc golgi associated PDZ and coiled-coil motif containing ISO OMIM:102530 | OMIM:108420 | OMIM:243060 | OMIM:258150 | OMIM:270960 | OMIM:309120 | OMIM:415000 | OMIM:606766 | OMIM:612997 | OMIM:613957 | OMIM:613958 | OMIM:614822 | OMIM:615081 | OMIM:615413 | OMIM:615841 | OMIM:615842 MouseDO NCBI chrNW_004624798:12,188,460...12,216,542
Ensembl chrNW_004624798:12,188,635...12,218,305
JBrowse link
G Henmt1 HEN methyltransferase 1 ISO ClinVar Annotator: match by term: Azoospermia ClinVar NCBI chrNW_004624772:4,452,320...4,470,097
Ensembl chrNW_004624772:4,456,917...4,470,558
JBrowse link
G Hfm1 helicase for meiosis 1 ISO ClinVar Annotator: match by term: Azoospermia ClinVar NCBI chrNW_004624742:6,394,790...6,513,601 JBrowse link
G Hsd17b10 hydroxysteroid 17-beta dehydrogenase 10 ISO mRNA:increased expression:testis RGD PMID:9851691 RGD:13792783 NCBI chrNW_004624909:681,731...684,130
Ensembl chrNW_004624909:681,731...684,237
JBrowse link
G Kash5 KASH domain containing 5 ISO ClinVar Annotator: match by term: Azoospermia ClinVar NCBI chrNW_004624832:4,783,593...4,806,025
Ensembl chrNW_004624832:4,783,766...4,803,325
JBrowse link
G Mcm8 minichromosome maintenance 8 homologous recombination repair factor ISO ClinVar Annotator: match by term: Azoospermia ClinVar NCBI chrNW_004624741:6,787,555...6,826,033
Ensembl chrNW_004624741:6,787,578...6,827,188
JBrowse link
G Mcmdc2 minichromosome maintenance domain containing 2 ISO ClinVar Annotator: match by term: Azoospermia ClinVar NCBI chrNW_004624744:24,422,656...24,483,365
Ensembl chrNW_004624744:24,425,515...24,471,470
JBrowse link
G Meiob meiosis specific with OB-fold ISO ClinVar Annotator: match by term: Azoospermia ClinVar NCBI chrNW_004624913:389,772...426,196
Ensembl chrNW_004624913:394,154...426,196
JBrowse link
G Mov10l1 Mov10 like RNA helicase 1 ISO ClinVar Annotator: match by term: Azoospermia ClinVar NCBI chrNW_004624752:580,580...651,209
Ensembl chrNW_004624752:580,155...651,000
JBrowse link
G Msh5 mutS homolog 5 ISO ClinVar Annotator: match by term: Azoospermia ClinVar NCBI chrNW_004624754:24,453,750...24,477,574
Ensembl chrNW_004624754:24,453,902...24,473,051
JBrowse link
G Pdha2 pyruvate dehydrogenase E1 subunit alpha 2 ISO ClinVar Annotator: match by term: Azoospermia ClinVar PMID:29581481 PMID:35172124 NCBI chrNW_004624757:23,806,964...23,808,605 JBrowse link
G Rec8 REC8 meiotic recombination protein ISO ClinVar Annotator: match by term: Azoospermia ClinVar NCBI chrNW_004624820:8,361,345...8,369,356
Ensembl chrNW_004624820:8,361,400...8,368,347
JBrowse link
G Sycp3 synaptonemal complex protein 3 ISO OMIM:102530 | OMIM:108420 | OMIM:243060 | OMIM:258150 | OMIM:270960 | OMIM:309120 | OMIM:415000 | OMIM:606766 | OMIM:612997 | OMIM:613957 | OMIM:613958 | OMIM:614822 | OMIM:615081 | OMIM:615413 | OMIM:615841 | OMIM:615842
CTD Direct Evidence: marker/mechanism
MouseDO
CTD
PMID:14643120 NCBI chrNW_004624750:6,345,112...6,358,724
Ensembl chrNW_004624750:6,349,400...6,358,180
JBrowse link
G Tdrd9 tudor domain containing 9 ISO ClinVar Annotator: match by term: Azoospermia ClinVar NCBI chrNW_004624734:971,174...1,067,178
Ensembl chrNW_004624734:971,695...1,067,121
JBrowse link
G Tdrkh tudor and KH domain containing ISO ClinVar Annotator: match by term: Azoospermia ClinVar NCBI chrNW_004624772:19,447,092...19,463,796
Ensembl chrNW_004624772:19,444,049...19,463,788
JBrowse link
G Terb1 telomere repeat binding bouquet formation protein 1 ISO ClinVar Annotator: match by term: Azoospermia ClinVar NCBI chrNW_004624746:19,689,127...19,726,972
Ensembl chrNW_004624746:19,697,909...19,720,724
JBrowse link
AZOOSPERMIA, OBSTRUCTIVE, WITH NEPHROLITHIASIS term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cldn2 claudin 2 ISO ClinVar Annotator: match by term: Azoospermia, obstructive, with nephrolithiasis OMIM
ClinVar
PMID:31320686 NCBI chrNW_004624803:9,839,916...9,849,891
Ensembl chrNW_004624803:9,839,911...9,846,367
JBrowse link
bacterial vaginosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mbl2 mannose binding lectin 2 ISO DNA:SNP:cds: RGD PMID:17470593 RGD:8693700 NCBI chrNW_004624791:10,881,319...10,886,294
Ensembl chrNW_004624791:10,881,268...10,886,297
JBrowse link
Blepharophimosis Syndrome Type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxl2 forkhead box L2 ISO ClinVar Annotator: match by term: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE I | ClinVar Annotator: match by term: Blepharophimosis, ptosis, epicanthus inversus type 1 ClinVar PMID:11175783 PMID:11468277 PMID:11776388 PMID:12400065 PMID:12529855 More... NCBI chrNW_004624730:15,489,261...15,492,645
Ensembl chrNW_004624730:15,490,664...15,491,800
JBrowse link
bowenoid papulosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Birc2 baculoviral IAP repeat containing 2 ISO mRNA:increased expression:perianal skin (human) RGD PMID:20346172 RGD:152998971 NCBI chrNW_004624878:476,460...514,637 JBrowse link
G Birc3 baculoviral IAP repeat containing 3 ISO mRNA:increased expression:perianal skin (human) RGD PMID:20346172 RGD:152998971 NCBI chrNW_004624878:516,750...541,475
Ensembl chrNW_004624878:523,300...536,062
JBrowse link
caudal regression syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Casq2 calsequestrin 2 ISO ClinVar Annotator: match by term: Caudal regression sequence | ClinVar Annotator: match by term: Sacral defect with anterior meningocele ClinVar PMID:24033266 PMID:25741868 PMID:26196381 PMID:28492532 NCBI chrNW_004624772:11,458,994...11,521,809
Ensembl chrNW_004624772:11,456,554...11,521,939
JBrowse link
G Cdx2 caudal type homeobox 2 ISO ClinVar Annotator: match by term: Sirenomelia ClinVar PMID:25741868 NCBI chrNW_004624776:10,551,503...10,556,987
Ensembl chrNW_004624776:10,551,503...10,556,845
JBrowse link
G Pcsk5 proprotein convertase subtilisin/kexin type 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18519639 NCBI chrNW_004624811:3,453,218...3,862,970 JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Agenesis of sacrum ClinVar PMID:18564 PMID:9497245 PMID:10484775 PMID:11575529 PMID:12059893 More... NCBI chrNW_004624794:11,888,211...12,004,457
Ensembl chrNW_004624794:11,888,289...12,004,314
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 OMIM
ClinVar
PMID:17409324 PMID:19319979 PMID:22892949 PMID:24033266 PMID:24307374 More... NCBI chrNW_004624772:11,401,277...11,453,870
Ensembl chrNW_004624772:11,401,660...11,448,569
JBrowse link
G Zbtb16 zinc finger and BTB domain containing 16 ISO RGD PMID:27727328 RGD:40924666 NCBI chrNW_004624784:9,545,529...9,726,960
Ensembl chrNW_004624784:9,546,509...9,726,960
JBrowse link
cervical adenocarcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Spink1 serine peptidase inhibitor Kazal type 1 ISO RGD PMID:2258083 RGD:2300391 NCBI chrNW_004624774:7,281,298...7,287,735
Ensembl chrNW_004624774:7,281,227...7,287,791
JBrowse link
G Tfrc transferrin receptor ISO protein:increased expression:uterine cervix RGD PMID:9739406 RGD:2292022 NCBI chrNW_004624730:61,282,650...61,313,487
Ensembl chrNW_004624730:61,285,334...61,313,550
JBrowse link
G Tp53 tumor protein p53 disease_progression ISO RGD PMID:17354237 RGD:2298527 NCBI chrNW_004624786:10,266,316...10,282,664
Ensembl chrNW_004624786:10,263,518...10,271,218
JBrowse link
cervical cancer term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apex1 apurinic/apyrimidinic endodeoxyribonuclease 1 ISO DNA:polymorphism: :p.D148E (human) RGD PMID:18503157 PMID:19292061 RGD:2315657 RGD:2315662 NCBI chrNW_004624825:4,711,921...4,714,926
Ensembl chrNW_004624825:4,708,093...4,714,921
JBrowse link
G Api5 apoptosis inhibitor 5 disease_progression ISO mRNA:increased expression RGD PMID:10780674 RGD:1643340 NCBI chrNW_004624767:4,591,562...4,614,365 JBrowse link
G Bcl2l1 BCL2 like 1 ISO protein:increased expression:uterine cervix RGD PMID:17311011 RGD:1643476 NCBI chrNW_004624741:788,445...838,513
Ensembl chrNW_004624741:789,355...839,507
JBrowse link
G Birc2 baculoviral IAP repeat containing 2 ISO mRNA:decreased expression:uterine cervix RGD PMID:16504151 RGD:1643527 NCBI chrNW_004624878:476,460...514,637 JBrowse link
G Brca1 BRCA1 DNA repair associated disease_progression ISO DNA:hypermethylation:promoter RGD PMID:12773202 RGD:2298941 NCBI chrNW_004624795:1,186,043...1,238,986
Ensembl chrNW_004624795:1,188,136...1,241,964
JBrowse link
G Brip1 BRCA1 interacting DNA helicase 1 ISO ClinVar Annotator: match by term: Cervical cancer ClinVar PMID:18483852 PMID:25741868 PMID:26467025 PMID:26790966 PMID:28492532 More... NCBI chrNW_004624871:2,051,044...2,195,364
Ensembl chrNW_004624871:2,052,863...2,198,165
JBrowse link
G Bsg basigin (Ok blood group) disease_progression ISO RGD PMID:18223224 RGD:2296028 NCBI chrNW_004624828:7,913,297...7,920,891
Ensembl chrNW_004624828:7,913,099...7,920,804
JBrowse link
G Cd55 CD55 molecule (Cromer blood group) ISO RGD PMID:9358772 RGD:2293549 NCBI chrNW_004624807:4,252,676...4,274,828 JBrowse link
G Cdc25a cell division cycle 25A ISO RGD PMID:18299147 RGD:2296067 NCBI chrNW_004624730:73,443,895...73,463,979
Ensembl chrNW_004624730:73,443,731...73,464,486
JBrowse link
G Cdc25c cell division cycle 25C ISO RGD PMID:15289842 RGD:4105450 NCBI chrNW_004624743:31,099,320...31,123,808
Ensembl chrNW_004624743:31,099,268...31,124,262
JBrowse link
G Cdh13 cadherin 13 ISO DNA:hypermethylation:promoter RGD PMID:17548682 RGD:2293543 NCBI chrNW_004624746:3,696,608...4,759,693
Ensembl chrNW_004624746:3,698,196...4,759,442
JBrowse link
G Cdk1 cyclin dependent kinase 1 ISO RGD PMID:18299147 RGD:2296067 NCBI chrNW_004624791:2,891,239...2,915,001 JBrowse link
G Ebag9 estrogen receptor binding site associated antigen 9 disease_progression ISO protein:increased expression:uterine cervix RGD PMID:16112176 RGD:2289851 NCBI chrNW_004624763:8,621,666...8,649,109
Ensembl chrNW_004624763:8,621,638...8,650,016
JBrowse link
G Erbb4 erb-b2 receptor tyrosine kinase 4 ISO protein:increased expression: uterine cervix, cytoplasm RGD PMID:28042953 RGD:126790468 NCBI chrNW_004624765:3,612,781...4,742,219
Ensembl chrNW_004624765:3,613,379...4,734,585
JBrowse link
G Fanca FA complementation group A no_association ISO DNA:SNP: :rs11649196 (human)
DNA:SNPs, haplotypes: :[rs2239359, rs7190823, rs7195066 (human)
RGD PMID:19012493 PMID:21543111 RGD:11344886 RGD:11344901 NCBI chrNW_004624746:206,069...253,473
Ensembl chrNW_004624746:215,193...252,569
JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Cancer of cervix | ClinVar Annotator: match by term: Cervical cancer | ClinVar Annotator: match by term: Cervix cancer ClinVar PMID:1908846 PMID:7647778 PMID:7649548 PMID:7670477 PMID:7702086 More... NCBI chrNW_004624755:25,633,690...25,647,361
Ensembl chrNW_004624755:25,635,165...25,646,932
JBrowse link
G Hnrnpc heterogeneous nuclear ribonucleoprotein C ISO protein:increased expression:cervical epithelium (human) RGD PMID:19319956 RGD:10054394 NCBI chrNW_004624825:7,198,387...7,276,936
Ensembl chrNW_004624825:7,205,292...7,276,889
JBrowse link
G Hoxb13 homeobox B13 ISO mRNA:increased expression:uterine cervix RGD PMID:16803519 RGD:2314728 NCBI chrNW_004624795:5,198,805...5,201,079
Ensembl chrNW_004624795:5,198,751...5,200,961
JBrowse link
G Hspa8 heat shock protein family A (Hsp70) member 8 ISO Protein: increased expression RGD PMID:21137014 RGD:6218976 NCBI chrNW_004624880:2,070,410...2,075,069
Ensembl chrNW_004624880:2,070,523...2,079,421
JBrowse link
G Il10 interleukin 10 disease_progression ISO protein:increased expression:serum RGD PMID:9541628 RGD:2317658 NCBI chrNW_004624807:4,687,249...4,691,658
Ensembl chrNW_004624807:4,687,176...4,691,732
JBrowse link
G Il1b interleukin 1 beta susceptibility ISO associated with Papillomavirus Infections;DNA:SNP:promoter: -511 C>T (rs16944)(human) RGD PMID:25893807 RGD:36174015 NCBI chrNW_004624749:12,852,128...12,858,478
Ensembl chrNW_004624749:12,852,021...12,858,760
JBrowse link
G Kdm3a lysine demethylase 3A severity ISO human gene in a mouse model RGD PMID:23492365 RGD:9590219 NCBI chrNW_004624749:16,784,538...16,829,784
Ensembl chrNW_004624749:16,784,538...16,829,365
JBrowse link
G Kmt2a lysine methyltransferase 2A ISO human gene in a mouse model RGD PMID:22926525 RGD:9588221 NCBI chrNW_004624784:13,824,507...13,912,672
Ensembl chrNW_004624784:13,824,541...13,908,077
JBrowse link
G Kmt2e lysine methyltransferase 2E (inactive) ISO human gene in a mouse model RGD PMID:25172963 RGD:9588553 NCBI chrNW_004624739:24,371,415...24,476,245
Ensembl chrNW_004624739:24,372,237...24,476,137
JBrowse link
G LOC101697345 HLA class II histocompatibility antigen, DP beta 1 chain susceptibility ISO DNA:polymorphism: :HLA-DPB1*1301 (human) RGD PMID:17349874 RGD:150429811 NCBI chrNW_004624754:23,661,031...23,672,549
Ensembl chrNW_004624754:23,658,339...23,672,663
JBrowse link
G LOC101703821 HLA class II histocompatibility antigen, DQ beta 1 chain susceptibility ISO associated with Papillomavirus Infections;DNA:polymorphism: :HLA-DQB1 G > A (rs6457617)(human)
DNA:polymorphisms::HLA-DQB1*050201, DQB1*060101, DQB1*0602(human)
RGD PMID:16425277 PMID:25893807 RGD:36174015 RGD:36174023 NCBI chrNW_004624754:23,895,509...23,902,487
Ensembl chrNW_004624754:23,895,607...23,906,713
JBrowse link
G Macc1 MET transcriptional regulator MACC1 ISO mRNA:increased expression:cervical region (human) RGD PMID:33603486 RGD:152999025 NCBI chrNW_004624739:10,387,745...10,467,384
Ensembl chrNW_004624739:10,435,761...10,467,543
JBrowse link
G Map2k3 mitogen-activated protein kinase kinase 3 treatment ISO RGD PMID:20980434 RGD:7495806 NCBI chrNW_004624849:5,007,185...5,034,488
Ensembl chrNW_004624849:5,006,513...5,035,747
JBrowse link
G Map2k6 mitogen-activated protein kinase kinase 6 ISO RGD PMID:20980434 RGD:7495806 NCBI chrNW_004624870:4,224,108...4,420,217
Ensembl chrNW_004624870:4,287,835...4,416,559
JBrowse link
G Mdc1 mediator of DNA damage checkpoint 1 ISO mRNA, protein:increased expression:uterine cervix (human) RGD PMID:21853275 RGD:9589052 NCBI chrNW_004624754:25,007,866...25,020,950 JBrowse link
G Med4 mediator complex subunit 4 severity ISO mRNA:decreased expression:uterine cervix (human) RGD PMID:19911042 RGD:12880436 NCBI chrNW_004624748:6,770,231...6,790,385 JBrowse link
G Mmp1 matrix metallopeptidase 1 disease_progression ISO DNA:insertion:promoter:g.-1607insG (human) RGD PMID:14550952 RGD:7207024 NCBI chrNW_004624878:71,642...79,660
Ensembl chrNW_004624878:71,642...79,602
JBrowse link
G Mmp13 matrix metallopeptidase 13 ISO mRNA:increased expression:uterine cervix RGD PMID:17243165 RGD:2306082 NCBI chrNW_004624918:2,228,688...2,239,852 JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility ISO DNA:missense mutation:cds:g.1298A>C (human) RGD PMID:27771518 RGD:38501051 NCBI chrNW_004624818:1,184,736...1,202,708
Ensembl chrNW_004624818:1,187,869...1,199,168
JBrowse link
G Ndufs6 NADH:ubiquinone oxidoreductase subunit S6 disease_progression ISO DNA, mRNA:amplification, increased expression:uterine cervix RGD PMID:18559093 RGD:2302384 NCBI chrNW_004624751:873,575...880,266
Ensembl chrNW_004624751:873,599...880,266
JBrowse link
G Nras NRAS proto-oncogene, GTPase ISO mRNA:increased expression:uterine cervix RGD PMID:14984964 RGD:2314838 NCBI chrNW_004624772:10,358,554...10,369,371 JBrowse link
G Pgm3 phosphoglucomutase 3 ISO RGD PMID:508567 RGD:2299870 NCBI chrNW_004624799:11,395,465...11,423,878
Ensembl chrNW_004624799:11,395,615...11,423,876
JBrowse link
G Prkn parkin RBR E3 ubiquitin protein ligase disease_progression ISO protein:decreased expression:uterine cervix (human) RGD PMID:28631565 RGD:13432557 NCBI chrNW_004624855:430,148...1,992,121
Ensembl chrNW_004624855:430,260...1,989,747
JBrowse link
G Ptk2 protein tyrosine kinase 2 disease_progression ISO RGD PMID:16638855 RGD:2292556 NCBI chrNW_004624735:15,356,911...15,713,219
Ensembl chrNW_004624735:15,461,178...15,714,071
JBrowse link
G Ptpn11 protein tyrosine phosphatase non-receptor type 11 ISO protein:increased expression:foreskin RGD PMID:18543080 RGD:39128248 NCBI chrNW_004624747:19,721,581...19,813,639
Ensembl chrNW_004624747:19,721,468...19,813,670
JBrowse link
G Ptpn6 protein tyrosine phosphatase non-receptor type 6 ISO protein:increased expression:foreskin RGD PMID:18543080 RGD:39128248 NCBI chrNW_004624860:3,580,225...3,595,403
Ensembl chrNW_004624860:3,580,560...3,595,090
JBrowse link
G Rassf1 Ras association domain family member 1 ISO associated with Papillomavirus Infections;DNA:hypermethylation:promoter RGD PMID:18608185 RGD:2299861 NCBI chrNW_004624730:4,181,207...4,190,603
Ensembl chrNW_004624730:4,181,462...4,190,431
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 NCBI chrNW_004624772:17,701,930...17,706,613
Ensembl chrNW_004624772:17,701,341...17,706,550
JBrowse link
G Smad2 SMAD family member 2 ISO DNA, mRNA:insertion, deletion, decreased expression:uterine cervix RGD PMID:12894231 RGD:2299968 NCBI chrNW_004624778:11,380,656...11,460,566
Ensembl chrNW_004624778:11,384,769...11,501,078
JBrowse link
G Smad4 SMAD family member 4 ISO mRNA:decreased expression:uterine cervix RGD PMID:12894231 RGD:2299968 NCBI chrNW_004624778:14,570,025...14,629,950
Ensembl chrNW_004624778:14,570,348...14,630,325
JBrowse link
G Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 ISO mRNA:increased expression:cervix epithelium (human) RGD PMID:27581326 RGD:13441596 NCBI chrNW_004624738:20,466,120...20,591,966
Ensembl chrNW_004624738:20,466,117...20,591,910
JBrowse link
G Spag5 sperm associated antigen 5 severity ISO mRNA, protein:increased expression:cervix (human) RGD PMID:35853859 RGD:155882439 NCBI chrNW_004624786:1,163,350...1,183,071
Ensembl chrNW_004624786:1,163,606...1,182,764
JBrowse link
G Tap1 transporter 1, ATP binding cassette subfamily B member susceptibility ISO DNA:SNPs: : RGD PMID:12648582 PMID:18248301 RGD:6482260 RGD:6482272 NCBI chrNW_004624754:23,815,464...23,822,480
Ensembl chrNW_004624754:23,815,915...23,822,827
JBrowse link
G Tap2 transporter 2, ATP binding cassette subfamily B member susceptibility ISO DNA:SNPs: : RGD PMID:12648582 PMID:18248301 RGD:6482260 RGD:6482272 NCBI chrNW_004624754:23,827,782...23,845,690
Ensembl chrNW_004624754:23,827,706...23,837,356
JBrowse link
G Timp4 TIMP metallopeptidase inhibitor 4 disease_progression ISO mRNA:increased expression:uterine cervix RGD PMID:15816637 RGD:2290434 NCBI chrNW_004624956:331,275...341,561
Ensembl chrNW_004624956:330,327...337,299
JBrowse link
G Tnf tumor necrosis factor susceptibility ISO DNA:polymorphism:promoter:-308G>A (human) RGD PMID:19823053 RGD:2315116 NCBI chrNW_004624754:24,623,059...24,625,647
Ensembl chrNW_004624754:24,623,425...24,625,531
JBrowse link
G Tp53 tumor protein p53 ISO ClinVar Annotator: match by term: Cervical cancer ClinVar PMID:1349102 PMID:1849234 PMID:8001119 PMID:8843196 PMID:9407971 More... NCBI chrNW_004624786:10,266,316...10,282,664
Ensembl chrNW_004624786:10,263,518...10,271,218
JBrowse link
G Tp73 tumor protein p73 susceptibility ISO DNA:SNPs:exon 2:4G>A, 14C>T (rs2273953, rs1801173) (human) RGD PMID:30420492 RGD:151347580 NCBI chrNW_004624818:6,775,588...6,817,187
Ensembl chrNW_004624818:6,775,599...6,809,289
JBrowse link
G Xrcc1 X-ray repair cross complementing 1 ISO DNA:polymorphism: :p.R194W RGD PMID:18851872 RGD:2302567 NCBI chrNW_004624907:1,087,611...1,113,275
Ensembl chrNW_004624907:1,087,611...1,113,266
JBrowse link
G Zfhx3 zinc finger homeobox 3 ISO mRNA:increased expression:uterine cervix RGD PMID:11812077 RGD:2315697 NCBI chrNW_004624746:15,094,890...15,330,653
Ensembl chrNW_004624746:15,098,960...15,254,127
JBrowse link
cervical mucinous adenocarcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Stk11 serine/threonine kinase 11 disease_progression ISO DNA:mutations RGD PMID:12533684 RGD:2291947 NCBI chrNW_004624828:7,444,339...7,466,926
Ensembl chrNW_004624828:7,445,069...7,467,298
JBrowse link
cervical squamous cell carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adar adenosine deaminase RNA specific disease_progression ISO protein:increased expression:cervix squamous epithelium (human) RGD PMID:28109322 RGD:125097518 NCBI chrNW_004624885:2,783,058...2,839,688
Ensembl chrNW_004624885:2,812,448...2,839,693
JBrowse link
G Bax BCL2 associated X, apoptosis regulator ISO protein:increased expression:uterine cervix RGD PMID:17694953 RGD:1643352 NCBI chrNW_004624832:5,050,222...5,068,565
Ensembl chrNW_004624832:5,050,222...5,055,506
JBrowse link
G Birc2 baculoviral IAP repeat containing 2 disease_progression ISO DNA, protein:amplification, increased expression:uterine cervix, nucleus RGD PMID:12208731 RGD:1643529 NCBI chrNW_004624878:476,460...514,637 JBrowse link
G Brip1 BRCA1 interacting DNA helicase 1 severity ISO mRNA, protein:increased expression:uterine cervix, nucleus (human) RGD PMID:24708616 RGD:11252104 NCBI chrNW_004624871:2,051,044...2,195,364
Ensembl chrNW_004624871:2,052,863...2,198,165
JBrowse link
G Ccl22 C-C motif chemokine ligand 22 severity ISO RGD PMID:28086903 RGD:38455996 NCBI chrNW_004624746:28,694,879...28,700,711
Ensembl chrNW_004624746:28,694,735...28,700,827
JBrowse link
G Ccr4 C-C motif chemokine receptor 4 severity ISO RGD PMID:28086903 RGD:38455996 NCBI chrNW_004624788:10,965,226...10,974,215
Ensembl chrNW_004624788:10,966,207...10,971,180
JBrowse link
G Cd82 CD82 molecule ISO protein:decreased expression:uterine cervix RGD PMID:15642213 RGD:2289399 NCBI chrNW_004624767:3,556,128...3,589,956 JBrowse link
G Csf1r colony stimulating factor 1 receptor ISO protein:increased expression:uterine cervix RGD PMID:18565574 RGD:2299119 NCBI chrNW_004624774:9,363,156...9,391,939
Ensembl chrNW_004624774:9,363,908...9,391,986
JBrowse link
G Fgf7 fibroblast growth factor 7 ISO cervical squamous cell carcinoma; mRNA:increased expression:cervical squamous cells RGD PMID:17306351 RGD:2289084 NCBI chrNW_004624731:10,413,715...10,468,660
Ensembl chrNW_004624731:10,413,645...10,468,690
JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 no_association ISO DNA:missense mutation:cds: p.S249G (human) RGD PMID:11605053 RGD:38500202 NCBI chrNW_004624755:25,633,690...25,647,361
Ensembl chrNW_004624755:25,635,165...25,646,932
JBrowse link
G Fos Fos proto-oncogene, AP-1 transcription factor subunit disease_progression ISO protein:increased expression:uterine cervix RGD PMID:15514944 RGD:2293757 NCBI chrNW_004624734:26,424,053...26,427,431
Ensembl chrNW_004624734:26,423,079...26,427,732
JBrowse link
G Fosl1 FOS like 1, AP-1 transcription factor subunit ISO protein:decreased expression:uterine cervix RGD PMID:15514944 RGD:2293757 NCBI chrNW_004624767:20,519,054...20,525,311
Ensembl chrNW_004624767:20,519,313...20,524,554
JBrowse link
G Foxp3 forkhead box P3 severity ISO RGD PMID:28086903 RGD:38455996 NCBI chrNW_004624893:995,145...1,008,492
Ensembl chrNW_004624893:995,182...1,008,679
JBrowse link
G Pdpn podoplanin disease_progression ISO RGD PMID:16528371 RGD:2292237 NCBI chrNW_004624764:163,370...192,770 JBrowse link
G Smad3 SMAD family member 3 severity ISO RGD PMID:28086903 RGD:38455996 NCBI chrNW_004624781:5,795,652...5,890,047
Ensembl chrNW_004624781:5,795,652...5,890,371
JBrowse link
G Timp2 TIMP metallopeptidase inhibitor 2 ISO protein:decreased expression:uterine cervix RGD PMID:16619570 RGD:2290402 NCBI chrNW_004624801:8,228,618...8,270,606
Ensembl chrNW_004624801:8,228,357...8,270,982
JBrowse link
G Tmbim6 transmembrane BAX inhibitor motif containing 6 disease_progression ISO mRNA:increased expression:uterine cervix RGD PMID:15337562 RGD:2291959 NCBI chrNW_004624816:2,519,839...2,540,766 JBrowse link
G Tnfrsf4 TNF receptor superfamily member 4 severity ISO RGD PMID:28086903 RGD:38455996 NCBI chrNW_004624818:8,372,092...8,376,108
Ensembl chrNW_004624818:8,373,810...8,376,204
JBrowse link
G Tnfsf4 TNF superfamily member 4 severity ISO RGD PMID:28086903 RGD:38455996 NCBI chrNW_004624771:8,580,489...8,599,735 JBrowse link
G Tp53 tumor protein p53 disease_progression ISO RGD PMID:17969407 RGD:2298526 NCBI chrNW_004624786:10,266,316...10,282,664
Ensembl chrNW_004624786:10,263,518...10,271,218
JBrowse link
G Tymp thymidine phosphorylase disease_progression ISO RGD PMID:16803522 RGD:2293719 NCBI chrNW_004624752:251,670...256,243
Ensembl chrNW_004624752:252,937...256,244
JBrowse link
cervix carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apex1 apurinic/apyrimidinic endodeoxyribonuclease 1 ISO DNA:SNPs (human) RGD PMID:19202550 RGD:2315691 NCBI chrNW_004624825:4,711,921...4,714,926
Ensembl chrNW_004624825:4,708,093...4,714,921
JBrowse link
G Bag1 BAG cochaperone 1 ISO protein:increased expression:uterine cervix RGD PMID:10047462 RGD:2293889 NCBI chrNW_004624736:38,015,150...38,025,079
Ensembl chrNW_004624736:38,015,044...38,025,079
JBrowse link
G Bak1 BCL2 antagonist/killer 1 ISO DNA:missense mutations:exon:multiple (human) RGD PMID:12771926 RGD:2315701 NCBI chrNW_004624754:23,297,077...23,302,366
Ensembl chrNW_004624754:23,296,800...23,301,223
JBrowse link
G Ccnd3 cyclin D3 ISO RGD PMID:14751136 RGD:2316013 NCBI chrNW_004624754:17,148,108...17,194,626
Ensembl chrNW_004624754:17,148,076...17,194,000
JBrowse link
G Cd9 CD9 molecule disease_progression ISO RGD PMID:14695144 RGD:2326206 NCBI chrNW_004624860:3,027,126...3,055,974
Ensembl chrNW_004624860:3,027,029...3,056,798
JBrowse link
G Efemp2 EGF containing fibulin extracellular matrix protein 2 exacerbates ISO mRNA, protein:increased expression:cervix epithelium (human) RGD PMID:24737201 RGD:42722607 NCBI chrNW_004624767:20,559,801...20,566,326
Ensembl chrNW_004624767:20,559,795...20,566,341
JBrowse link
G Erap1 endoplasmic reticulum aminopeptidase 1 ISO DNA:SNPs (human) RGD PMID:19202550 RGD:2315691 NCBI chrNW_004624743:15,407,217...15,442,610
Ensembl chrNW_004624743:15,408,485...15,431,967
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 chrNW_004624755:25,633,690...25,647,361
Ensembl chrNW_004624755:25,635,165...25,646,932
JBrowse link
G Mgmt O-6-methylguanine-DNA methyltransferase ISO DNA:polymorphisms:cds:p.I143V, p.K178R (human) RGD PMID:17234722 RGD:2317690 NCBI chrNW_004624737:17,271,881...17,619,123
Ensembl chrNW_004624737:17,271,992...17,528,889
JBrowse link
G Ptgs1 prostaglandin-endoperoxide synthase 1 disease_progression ISO RGD PMID:16803521 RGD:2300207 NCBI chrNW_004624760:12,917,244...12,937,858
Ensembl chrNW_004624760:12,915,206...12,937,824
JBrowse link
G Ptk2 protein tyrosine kinase 2 ISO protein:increased tyrosine phosphorylation:cervix RGD PMID:14675348 RGD:2292568 NCBI chrNW_004624735:15,356,911...15,713,219
Ensembl chrNW_004624735:15,461,178...15,714,071
JBrowse link
G Sparc secreted protein acidic and cysteine rich ISO DNA:hypermethylation RGD PMID:16434596 RGD:2300022 NCBI chrNW_004624733:37,348,993...37,369,804
Ensembl chrNW_004624733:37,338,284...37,369,804
JBrowse link
G Tap2 transporter 2, ATP binding cassette subfamily B member susceptibility ISO DNA:SNP: :(rs4148876)(human) RGD PMID:17366619 RGD:6482264 NCBI chrNW_004624754:23,827,782...23,845,690
Ensembl chrNW_004624754:23,827,706...23,837,356
JBrowse link
G Tk1 thymidine kinase 1 ISO protein:increased expression:serum (human) RGD PMID:11474248 RGD:2317243 NCBI chrNW_004624801:7,685,003...7,692,949
Ensembl chrNW_004624801:7,685,017...7,692,872
JBrowse link
G Tsg101 tumor susceptibility 101 ISO mRNA:alternative form:uterine cervix
mRNA:alternative forms:uterine cervix:multiple
RGD PMID:10505033 PMID:10600297 RGD:2291851 RGD:2291852 NCBI chrNW_004624766:9,932,190...9,977,725
Ensembl chrNW_004624766:9,934,228...9,977,697
JBrowse link
cervix uteri carcinoma in situ term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adam9 ADAM metallopeptidase domain 9 ISO protein:increased expression:uterine cervix RGD PMID:19473694 RGD:2325246 NCBI chrNW_004624780:4,482,696...4,612,475
Ensembl chrNW_004624780:4,480,647...4,612,477
JBrowse link
G Bcl2 BCL2 apoptosis regulator disease_progression ISO protein:increased expression:uterine cervix RGD PMID:18561741 RGD:2298889 NCBI chrNW_004624792:8,854,345...9,032,727
Ensembl chrNW_004624792:8,859,522...9,031,344
JBrowse link
G Brca1 BRCA1 DNA repair associated ISO DNA:deletions:exon RGD PMID:10442317 RGD:2298942 NCBI chrNW_004624795:1,186,043...1,238,986
Ensembl chrNW_004624795:1,188,136...1,241,964
JBrowse link
G Cadm1 cell adhesion molecule 1 severity ISO RGD PMID:17009984 RGD:2289089 NCBI chrNW_004624784:10,595,876...10,933,024
Ensembl chrNW_004624784:10,591,824...10,932,981
JBrowse link
G Ccnd1 cyclin D1 ISO protein:increased expression:uterine cervix RGD PMID:18301453 RGD:2293574 NCBI chrNW_004624767:17,470,310...17,483,082
Ensembl chrNW_004624767:17,469,622...17,483,191
JBrowse link
G Ccne1 cyclin E1 ISO protein:increased expression:uterine cervix RGD PMID:18301453 RGD:2293574 NCBI chrNW_004624794:4,957,156...4,967,058
Ensembl chrNW_004624794:4,957,178...4,967,140
JBrowse link
G Ccng1 cyclin G1 ISO protein:increased expression:uterine cervix RGD PMID:16845792 RGD:2316022 NCBI chrNW_004624733:26,366,448...26,378,062
Ensembl chrNW_004624733:26,367,200...26,376,664
JBrowse link
G Cd274 CD274 molecule severity ISO associated with Papillomavirus Infections; protein:increased expression:dendritic cell RGD PMID:23521696 RGD:40822817 NCBI chrNW_004624736:9,991,851...10,017,047
Ensembl chrNW_004624736:9,996,156...10,013,814
JBrowse link
G Cd46 CD46 molecule ISO protein:increased expression:uterine cervix RGD PMID:9358772 RGD:2293549 NCBI chrNW_004624807:4,040,639...4,074,631 JBrowse link
G Cdh1 cadherin 1 ISO DNA:hypermethylation:uterine cervix RGD PMID:17894941 RGD:2289490 NCBI chrNW_004624746:17,480,472...17,557,722
Ensembl chrNW_004624746:17,483,469...17,557,581
JBrowse link
G Cdk4 cyclin dependent kinase 4 disease_progression ISO associated with Papillomavirus Infections;protein:increased expression:cervix epithelium RGD PMID:18301453 RGD:2293574 NCBI chrNW_004624802:10,191,679...10,194,585
Ensembl chrNW_004624802:10,191,014...10,194,275
JBrowse link
G Cdkn1a cyclin dependent kinase inhibitor 1A ISO protein:increased expression:epithelial cell: RGD PMID:9546362 RGD:8662446 NCBI chrNW_004624754:21,109,074...21,115,869
Ensembl chrNW_004624754:21,108,874...21,115,885
JBrowse link
G Cdkn1b cyclin dependent kinase inhibitor 1B disease_progression ISO associated with Papillomavirus Infections;protein:decreased expression:cervical epithelium RGD PMID:18301453 RGD:2293574 NCBI chrNW_004624752:25,202,474...25,207,107
Ensembl chrNW_004624752:25,203,474...25,207,114
JBrowse link
G Cdkn2b cyclin dependent kinase inhibitor 2B ISO protein:increased expression:uterine cervix RGD PMID:17632454 RGD:2289695 NCBI chrNW_004624736:25,929,314...25,933,318
Ensembl chrNW_004624736:25,926,668...25,933,440
JBrowse link
G Csf1r colony stimulating factor 1 receptor disease_progression ISO protein:increased expression:uterine cervix RGD PMID:18565574 RGD:2299119 NCBI chrNW_004624774:9,363,156...9,391,939
Ensembl chrNW_004624774:9,363,908...9,391,986
JBrowse link
G Ctnna1 catenin alpha 1 disease_progression ISO protein:decreased expression:uterine cervix RGD PMID:11161853 RGD:2289797 NCBI chrNW_004624743:31,512,481...31,700,340 JBrowse link
G Dlg1 discs large MAGUK scaffold protein 1 ISO protein:decreased expression:cervical lesions:targetted by the HPV oncoprotein E6 for ubiquitin-mediated proteolysis RGD PMID:15221964 RGD:2306812 NCBI chrNW_004624730:62,001,547...62,223,098
Ensembl chrNW_004624730:62,002,280...62,223,319
JBrowse link
G Faslg Fas ligand ISO associated with Papillomavirus Infections RGD PMID:17433060 RGD:2290052 NCBI chrNW_004624771:9,031,978...9,038,760
Ensembl chrNW_004624771:9,032,016...9,038,825
JBrowse link
G Hdac1 histone deacetylase 1 ISO protein:increased expression:uterine cervix RGD PMID:19147762 RGD:2306200 NCBI chrNW_004624764:15,510,655...15,552,020
Ensembl chrNW_004624764:15,510,866...15,552,025
JBrowse link
G Hdac2 histone deacetylase 2 ISO protein:increased expression:uterine cervix RGD PMID:19147762 RGD:2306200 NCBI chrNW_004624856:4,834,197...4,861,546
Ensembl chrNW_004624856:4,834,217...4,861,592
JBrowse link
G Hdac6 histone deacetylase 6 ISO protein:increased expression:uterine cervix RGD PMID:19147762 RGD:2306200 NCBI chrNW_004624893:608,744...627,600
Ensembl chrNW_004624893:608,540...628,580
JBrowse link
G Igfbp3 insulin like growth factor binding protein 3 ISO mRNA:decreased expression:tumor:significant decrease in cancer relative to controls (P=0.03)
protein:decreased expression:serum:significantly decreased (p<0.0001), levels inversely associated with serum IGF-II levels (p<0.01)
RGD PMID:14675666 PMID:17709267 RGD:2290004 RGD:2290021 NCBI chrNW_004624740:6,878,818...6,886,512
Ensembl chrNW_004624740:6,877,348...6,886,512
JBrowse link
G Il1b interleukin 1 beta susceptibility ISO associated with Papillomavirus Infections;DNA:SNP:promoter: -511 C>T (rs16944)(human) RGD PMID:25893807 RGD:36174015 NCBI chrNW_004624749:12,852,128...12,858,478
Ensembl chrNW_004624749:12,852,021...12,858,760
JBrowse link
G Mgp matrix Gla protein ISO RGD PMID:17960611 RGD:2293584 NCBI chrNW_004624752:23,146,025...23,149,266
Ensembl chrNW_004624752:23,146,166...23,149,048
JBrowse link
G Mlh1 mutL homolog 1 ISO protein:increased expression:uterine cervix RGD PMID:15807307 RGD:2293515 NCBI chrNW_004624788:15,110,436...15,160,462
Ensembl chrNW_004624788:15,110,658...15,160,535
JBrowse link
G Mmp2 matrix metallopeptidase 2 disease_progression ISO protein:increased expression:uterine cervix RGD PMID:16619570 RGD:2290402 NCBI chrNW_004624757:1,450,680...1,479,160
Ensembl chrNW_004624757:1,448,698...1,479,255
JBrowse link
G Msh2 mutS homolog 2 ISO protein:increased expression:uterine cervix RGD PMID:15807307 RGD:2293515 NCBI chrNW_004624738:28,780,596...28,861,523
Ensembl chrNW_004624738:28,780,614...28,861,704
JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17303386 NCBI chrNW_004624818:1,184,736...1,202,708
Ensembl chrNW_004624818:1,187,869...1,199,168
JBrowse link
G Pdcd1 programmed cell death 1 severity ISO associated with Papillomavirus Infections; protein:increased expression:T cell RGD PMID:23521696 RGD:40822817 NCBI chrNW_004624847:5,732,922...5,741,908
Ensembl chrNW_004624847:5,732,767...5,742,269
JBrowse link
G Phb1 prohibitin 1 ISO protein:increased expression:uterine cervix RGD PMID:16426920 RGD:2292398 NCBI chrNW_004624795:5,556,728...5,565,969
Ensembl chrNW_004624795:5,556,450...5,565,988
JBrowse link
G Pou4f1 POU class 4 homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20190800 NCBI chrNW_004624751:21,812,567...21,817,837
Ensembl chrNW_004624751:21,812,850...21,814,747
JBrowse link
G Pten phosphatase and tensin homolog ISO protein:decreased expression:uterine cervix RGD PMID:17672936 RGD:2298701 NCBI chrNW_004624791:13,975,235...14,056,900 JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 disease_progression ISO protein:increased expression:uterine cervix, epithelial cell RGD PMID:18565574 RGD:2299119 NCBI chrNW_004624814:6,897,818...6,904,890
Ensembl chrNW_004624814:6,897,857...6,903,728
JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO associated with Adenocarcinoma RGD PMID:18234283 RGD:2299896 NCBI chrNW_004624748:6,358,588...6,533,217
Ensembl chrNW_004624748:6,358,180...6,533,249
JBrowse link
G Rela RELA proto-oncogene, NF-kB subunit disease_progression ISO protein:altered localization, increased expression:nucleus, uterine cervix RGD PMID:16850495 RGD:2298759 NCBI chrNW_004624767:20,732,813...20,742,016
Ensembl chrNW_004624767:20,732,938...20,741,272
JBrowse link
G Skp2 S-phase kinase associated protein 2 severity ISO associated with Papillomavirus Infections RGD PMID:19094580 RGD:2315036 NCBI chrNW_004624759:18,796,055...18,858,692
Ensembl chrNW_004624759:18,830,323...18,858,712
JBrowse link
G Stat3 signal transducer and activator of transcription 3 disease_progression ISO protein:increased expression:nucleus
protein:increased serine phosphorylation:cervix epithelium
RGD PMID:16005944 PMID:17110342 RGD:2291916 RGD:2298536 NCBI chrNW_004624795:1,648,235...1,680,788
Ensembl chrNW_004624795:1,648,080...1,681,200
JBrowse link
G Tert telomerase reverse transcriptase disease_progression ISO protein:increased expression:uterine cervix RGD PMID:17644806 RGD:2291985 NCBI chrNW_004624751:624,569...647,198 JBrowse link
G Thrb thyroid hormone receptor beta ISO DNA:loss of heterozygosity (human) RGD PMID:11483913 RGD:2315099 NCBI chrNW_004624788:1,950,888...2,348,895
Ensembl chrNW_004624788:1,950,890...2,349,343
JBrowse link
G Tp63 tumor protein p63 disease_progression ISO RGD PMID:16804722 RGD:2315435 NCBI chrNW_004624730:67,283,444...67,489,808
Ensembl chrNW_004624730:67,286,160...67,489,670
JBrowse link
G Tp73 tumor protein p73 disease_progression ISO mRNA:increased expression:uterine cervix RGD PMID:11870517 RGD:2290589 NCBI chrNW_004624818:6,775,588...6,817,187
Ensembl chrNW_004624818:6,775,599...6,809,289
JBrowse link
G Vegfa vascular endothelial growth factor A ISO protein:increased expression:uterine cervix RGD PMID:19723043 RGD:2315456 NCBI chrNW_004624754:15,929,414...15,943,637 JBrowse link
chlamydia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd40 CD40 molecule ISO RGD PMID:20102413 RGD:5132268 NCBI chrNW_004624790:8,475,640...8,485,927
Ensembl chrNW_004624790:8,476,158...8,485,856
JBrowse link
G Foxp3 forkhead box P3 treatment ISO RGD PMID:30832593 RGD:38455984 NCBI chrNW_004624893:995,145...1,008,492
Ensembl chrNW_004624893:995,182...1,008,679
JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO mRNA:increased expression:lung (mouse) RGD PMID:19728926 RGD:4145507 NCBI chrNW_004624828:2,432,584...2,451,997
Ensembl chrNW_004624828:2,432,550...2,453,071
JBrowse link
G Ido1 indoleamine 2,3-dioxygenase 1 treatment ISO mRNA:increased expression:lung (mouse) RGD PMID:30832593 PMID:31249813 RGD:38455984 RGD:39938856 NCBI chrNW_004624780:3,684,941...3,697,506
Ensembl chrNW_004624780:3,685,069...3,697,474
JBrowse link
G Ifng interferon gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:19203382 NCBI chrNW_004624802:163,261...166,534
Ensembl chrNW_004624802:163,261...166,534
JBrowse link
G Il13 interleukin 13 ISO RGD PMID:21573182 RGD:5684365 NCBI chrNW_004624733:39,427,189...39,430,019
Ensembl chrNW_004624733:39,428,095...39,429,843
JBrowse link
G Il17a interleukin 17A ISO associated with Bronchial Hyprractivity; mRNA:increased expression:lung RGD PMID:19812198 PMID:20228193 RGD:4888528 RGD:4889101 NCBI chrNW_004624855:3,911,349...3,914,214
Ensembl chrNW_004624855:3,911,349...3,913,136
JBrowse link
G Tgfb1 transforming growth factor beta 1 treatment ISO RGD PMID:30832593 RGD:38455984 NCBI chrNW_004624907:162,567...175,696
Ensembl chrNW_004624907:161,569...176,605
JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19203382 NCBI chrNW_004624754:24,623,059...24,625,647
Ensembl chrNW_004624754:24,623,425...24,625,531
JBrowse link
Chlamydia pneumonia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd274 CD274 molecule ISO mRNA:increased expression:lung RGD PMID:26378990 RGD:41412180 NCBI chrNW_004624736:9,991,851...10,017,047
Ensembl chrNW_004624736:9,996,156...10,013,814
JBrowse link
G Pdcd1 programmed cell death 1 ISO mRNA:increased expression:lung RGD PMID:26378990 RGD:41412180 NCBI chrNW_004624847:5,732,922...5,741,908
Ensembl chrNW_004624847:5,732,767...5,742,269
JBrowse link
G Pik3cd phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta severity ISO RGD PMID:29893841 RGD:40890270 NCBI chrNW_004624818:2,751,724...2,789,145
Ensembl chrNW_004624818:2,751,724...2,779,999
JBrowse link
chorioamnionitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ager advanced glycosylation end-product specific receptor ISO RGD PMID:22578261 RGD:6767308 NCBI chrNW_004624754:24,138,086...24,140,900 JBrowse link
G Fas Fas cell surface death receptor ISO protein:increased expression:villous trophoblast RGD PMID:12700199 RGD:12904022 NCBI chrNW_004624791:15,290,022...15,315,848
Ensembl chrNW_004624791:15,289,348...15,315,848
JBrowse link
G Il1a interleukin 1 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:21493953 NCBI chrNW_004624749:12,795,967...12,805,658
Ensembl chrNW_004624749:12,795,946...12,805,154
JBrowse link
G Il6 interleukin 6 ISO protein:increased expression: cervicovaginal fluid :
protein:increased expression:plasma
associated with Premature Birth;protein:increased expression:tracheal aspirate fluid:
RGD PMID:15547537 PMID:25011638 PMID:25687566 RGD:12791291 RGD:12792243 RGD:5128667 NCBI chrNW_004624739:7,957,709...7,963,414
Ensembl chrNW_004624739:7,957,674...7,962,318
JBrowse link
G Lta lymphotoxin alpha severity ISO associated with Premature Birth;DNA:SNP:promoter:250G>A (human) RGD PMID:15128916 RGD:12904055 NCBI chrNW_004624754:24,626,930...24,628,412
Ensembl chrNW_004624754:24,627,318...24,628,182
JBrowse link
G Mbl2 mannose binding lectin 2 susceptibility ISO DNA:polymorphism:exon:p.G54D(human) RGD PMID:15723707 RGD:12910932 NCBI chrNW_004624791:10,881,319...10,886,294
Ensembl chrNW_004624791:10,881,268...10,886,297
JBrowse link
G Mmp9 matrix metallopeptidase 9 severity ISO protein:increased expression:respiratory system fluid/secretion RGD PMID:12712078 RGD:13204828 NCBI chrNW_004624790:8,584,399...8,591,763
Ensembl chrNW_004624790:8,583,457...8,591,713
JBrowse link
G Tgfb1 transforming growth factor beta 1 severity ISO protein:increased expression:amniotic fluid RGD PMID:19332995 RGD:4145137 NCBI chrNW_004624907:162,567...175,696
Ensembl chrNW_004624907:161,569...176,605
JBrowse link
G Tnf tumor necrosis factor no_association
severity
ISO associated with Premature Birth;DNA:SNP:promoter:c.-308 G>A (human)
associated with Premature Birth;DNA:SNP:promoter:c.-238G>A (human)
RGD PMID:15128916 RGD:12904055 NCBI chrNW_004624754:24,623,059...24,625,647
Ensembl chrNW_004624754:24,623,425...24,625,531
JBrowse link
choriocarcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgf8 fibroblast growth factor 8 ISO protein:increased expression:testicular germ cell neoplasms RGD PMID:11764380 RGD:2289339 NCBI chrNW_004624831:1,251,991...1,259,247
Ensembl chrNW_004624831:1,253,044...1,257,741
JBrowse link
G Igf2 insulin like growth factor 2 disease_progression ISO protein:increased expression:tumor:elevated IGF-II increased choriocarcinoma cell invasion via activation of INSR RGD PMID:17556377 RGD:2290454 NCBI chrNW_004624767:14,969,977...14,997,577
Ensembl chrNW_004624767:14,969,866...14,979,026
JBrowse link
G Insr insulin receptor disease_progression ISO protein:increased activity:tumor:IGF-II increased choriocarcinoma cell invasion via activation of INSR RGD PMID:17556377 RGD:2290454 NCBI chrNW_004624828:345,135...485,856
Ensembl chrNW_004624828:345,135...486,184
JBrowse link
G Pdgfb platelet derived growth factor subunit B ISO mRNA:increased expression:mononuclear cytotrophoblast cell RGD PMID:8504434 RGD:2292200 NCBI chrNW_004624752:9,072,471...9,088,289
Ensembl chrNW_004624752:9,072,512...9,088,593
JBrowse link
G Pdgfrb platelet derived growth factor receptor beta ISO mRNA:increased expression:mononuclear cytotrophoblast cell RGD PMID:8504434 RGD:2292200 NCBI chrNW_004624774:9,432,765...9,469,690
Ensembl chrNW_004624774:9,432,541...9,469,881
JBrowse link
G Timp3 TIMP metallopeptidase inhibitor 3 ISO DNA, protein:hypermethylation, decreased expression:promoter, placenta RGD PMID:15507671 RGD:2290418 NCBI chrNW_004624750:1,776,197...1,817,279
Ensembl chrNW_004624750:1,775,744...1,817,385
JBrowse link
congenital bilateral absence of vas deferens term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adgrg2 adhesion G protein-coupled receptor G2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004624829:3,785,682...3,916,595
Ensembl chrNW_004624829:3,787,207...3,867,846
JBrowse link
G Cftr CF transmembrane conductance regulator ISO ClinVar Annotator: match by term: Congenital bilateral absence of vas deferens ClinVar PMID:1381723 PMID:2344617 PMID:7506096 PMID:7539342 PMID:7573058 More... NCBI chrNW_004624827:1,704,733...1,893,579 JBrowse link
congenital diaphragmatic hernia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace angiotensin I converting enzyme ISO protein:increased activity:lung (rat) RGD PMID:9498404 RGD:12859277 NCBI chrNW_004624849:998,262...1,019,305
Ensembl chrNW_004624849:998,277...1,019,521
JBrowse link
G Agtr2 angiotensin II receptor type 2 ISO RGD PMID:22113494 RGD:6903875 NCBI chrNW_004624967:327,627...332,000
Ensembl chrNW_004624967:329,284...330,372
JBrowse link
G Atp7a ATPase copper transporting alpha ISO mRNA, protein:decreased expression:diaphragm (rat) RGD PMID:25319798 RGD:11341670 NCBI chrNW_004624836:2,804,349...3,058,125
Ensembl chrNW_004624836:2,808,681...2,993,452
JBrowse link
G Bmp4 bone morphogenetic protein 4 ISO mRNA:decreased expression:heart: RGD PMID:18280291 RGD:9068407 NCBI chrNW_004624731:15,262,480...15,269,196
Ensembl chrNW_004624731:15,263,274...15,269,743
JBrowse link
G Cbl Cbl proto-oncogene ISO mRNA,protein:decreased expression, hypophosphorylation:lung, alveolar epithelium: RGD PMID:23143077 RGD:11038813 NCBI chrNW_004624784:14,577,582...14,671,816
Ensembl chrNW_004624784:14,577,515...14,667,575
JBrowse link
G Ccn2 cellular communication network factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20939759 PMID:21258935 NCBI chrNW_004624753:6,022,033...6,024,866
Ensembl chrNW_004624753:6,023,069...6,024,833
JBrowse link
G Des desmin ISO ClinVar Annotator: match by term: Congenital diaphragmatic hernia ClinVar PMID:14724127 PMID:15477095 PMID:16217025 PMID:16519886 PMID:16828798 More... NCBI chrNW_004624823:5,624,958...5,632,234
Ensembl chrNW_004624823:5,622,283...5,632,283
JBrowse link
G Eln elastin ISO mRNA,protein:increased expression:lung: RGD PMID:12194112 RGD:9585688 NCBI chrNW_004624740:13,856,932...13,886,266 JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Congenital diaphragmatic hernia ClinVar PMID:23806086 PMID:24088041 PMID:25736269 NCBI chrNW_004624731:11,086,240...11,318,111
Ensembl chrNW_004624731:11,086,844...11,318,102
JBrowse link
G Fgfrl1 fibroblast growth factor receptor like 1 ISO ClinVar Annotator: match by term: Congenital diaphragmatic hernia ClinVar PMID:25741868 PMID:28492532 PMID:33443296 NCBI chrNW_004624755:26,134,957...26,145,746
Ensembl chrNW_004624755:26,135,505...26,144,325
JBrowse link
G Foxc2 forkhead box C2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27663689 NCBI chrNW_004624746:2,632,547...2,634,867
Ensembl chrNW_004624746:2,632,619...2,634,085
JBrowse link
G Foxf1 forkhead box F1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27663689 NCBI chrNW_004624746:2,599,211...2,603,031
Ensembl chrNW_004624746:2,599,106...2,603,336
JBrowse link
G Fras1 Fraser extracellular matrix complex subunit 1 ISO ClinVar Annotator: match by term: Agenesis of hemidiaphragm | ClinVar Annotator: match by term: Congenital diaphragmatic hernia ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624757:12,529,475...12,973,751
Ensembl chrNW_004624757:12,532,466...12,972,918
JBrowse link
G Frem1 FRAS1 related extracellular matrix 1 ISO ClinVar Annotator: match by term: Agenesis of hemidiaphragm ClinVar PMID:23806086 PMID:24088041 PMID:25736269 PMID:25741868 PMID:28492532 NCBI chrNW_004624736:18,975,104...19,346,159
Ensembl chrNW_004624736:18,989,320...19,132,416
JBrowse link
G Frem2 FRAS1 related extracellular matrix 2 ISO ClinVar Annotator: match by term: Agenesis of hemidiaphragm | ClinVar Annotator: match by term: Congenital diaphragmatic hernia ClinVar PMID:25741868 PMID:28492532 PMID:30143558 NCBI chrNW_004624920:1,683,342...1,908,602
Ensembl chrNW_004624920:1,683,351...1,904,557
JBrowse link
G Gata4 GATA binding protein 4 ISO CTD Direct Evidence: marker/mechanism
OMIM:142340 | OMIM:222400 | OMIM:610187
CTD
MouseDO
PMID:23426975 NCBI chrNW_004624758:25,278,878...25,319,317
Ensembl chrNW_004624758:25,278,874...25,319,318
JBrowse link
G Gata6 GATA binding protein 6 ISO ClinVar Annotator: match by term: Agenesis of hemidiaphragm | ClinVar Annotator: match by term: DIH ClinVar PMID:22158542 PMID:24385578 PMID:25741868 NCBI chrNW_004624770:9,772,818...9,799,837
Ensembl chrNW_004624770:9,772,818...9,798,259
JBrowse link
G Gli3 GLI family zinc finger 3 ISO ClinVar Annotator: match by term: Congenital diaphragmatic hernia ClinVar NCBI chrNW_004624740:18,961,395...19,238,760
Ensembl chrNW_004624740:18,975,596...19,235,900
JBrowse link
G Htr2a 5-hydroxytryptamine receptor 2A ISO mRNA, protein:increased expression:lung RGD PMID:24888825 RGD:401901089 NCBI chrNW_004624748:8,154,288...8,223,226
Ensembl chrNW_004624748:8,155,107...8,223,259
JBrowse link
G Igf1 insulin like growth factor 1 ISO mRNA:decreased expression:heart (rat) RGD PMID:11409163 RGD:12904929 NCBI chrNW_004624750:5,881,065...5,954,799
Ensembl chrNW_004624750:5,881,091...5,952,300
JBrowse link
G Igf1r insulin like growth factor 1 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20620343 PMID:21433279 NCBI chrNW_004624768:5,396,027...5,688,435
Ensembl chrNW_004624768:5,396,156...5,681,809
JBrowse link
G Igf2 insulin like growth factor 2 treatment ISO RGD PMID:24352370 RGD:10402563 NCBI chrNW_004624767:14,969,977...14,997,577
Ensembl chrNW_004624767:14,969,866...14,979,026
JBrowse link
G Igf2r insulin like growth factor 2 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20620343 PMID:21433279 NCBI chrNW_004624855:2,752,676...2,887,327
Ensembl chrNW_004624855:2,753,994...2,887,151
JBrowse link
G Igfbp3 insulin like growth factor binding protein 3 ISO RGD PMID:19844724 RGD:10402761 NCBI chrNW_004624740:6,878,818...6,886,512
Ensembl chrNW_004624740:6,877,348...6,886,512
JBrowse link
G Igfbp5 insulin like growth factor binding protein 5 ISO RGD PMID:19844724 RGD:10402761 NCBI chrNW_004624823:8,434,614...8,454,879
Ensembl chrNW_004624823:8,434,635...8,454,747
JBrowse link
G Insr insulin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21433279 NCBI chrNW_004624828:345,135...485,856
Ensembl chrNW_004624828:345,135...486,184
JBrowse link
G Kcnq5 potassium voltage-gated channel subfamily Q member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28189443 NCBI chrNW_004624819:6,886,328...7,365,537
Ensembl chrNW_004624819:6,889,658...7,365,537
JBrowse link
G Kif7 kinesin family member 7 ISO mRNA,protein:decreased expression:diaphragmatic mesenchyme, pulmonary mesenchyme;
OMIM:142340 | OMIM:222400 | OMIM:610187
RGD
MouseDO
PMID:25921351 RGD:11553839 NCBI chrNW_004624768:16,674,485...16,732,698
Ensembl chrNW_004624768:16,718,978...16,730,707
JBrowse link
G Lrp1 LDL receptor related protein 1 ISO OMIM:142340 | OMIM:222400 | OMIM:610187 MouseDO NCBI chrNW_004624802:10,734,907...10,812,888
Ensembl chrNW_004624802:10,734,263...10,812,763
JBrowse link
G Lztr1 leucine zipper like post translational regulator 1 ISO ClinVar Annotator: match by term: Congenital diaphragmatic hernia ClinVar PMID:24362817 PMID:25335493 PMID:25480913 PMID:25741868 PMID:25795793 More... NCBI chrNW_004624945:691,063...709,599
Ensembl chrNW_004624945:691,059...709,564
JBrowse link
G Met MET proto-oncogene, receptor tyrosine kinase ISO ClinVar Annotator: match by term: Agenesis of hemidiaphragm ClinVar PMID:1104268 PMID:14559814 PMID:17483355 PMID:21970370 PMID:22703879 More... NCBI chrNW_004624827:2,589,157...2,724,065
Ensembl chrNW_004624827:2,587,966...2,723,995
JBrowse link
G Mn1 MN1 proto-oncogene, transcriptional regulator ISO ClinVar Annotator: match by term: Agenesis of hemidiaphragm ClinVar PMID:25741868 PMID:31834374 NCBI chrNW_004624747:4,090,664...4,135,822
Ensembl chrNW_004624747:4,093,279...4,134,876
JBrowse link
G Myo15a myosin XVA ISO ClinVar Annotator: match by term: Agenesis of hemidiaphragm ClinVar PMID:24033266 PMID:25741868 PMID:26445815 PMID:27375115 PMID:28492532 NCBI chrNW_004624849:3,283,180...3,345,456
Ensembl chrNW_004624849:3,284,085...3,344,759
JBrowse link
G Myod1 myogenic differentiation 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21258934 NCBI chrNW_004624766:9,345,390...9,347,985
Ensembl chrNW_004624766:9,345,613...9,347,326
JBrowse link
G Myrf myelin regulatory factor ISO ClinVar Annotator: match by term: Agenesis of hemidiaphragm ClinVar PMID:25741868 PMID:30532227 NCBI chrNW_004624926:615,991...636,167
Ensembl chrNW_004624926:617,303...636,080
JBrowse link
G Ndst1 N-deacetylase and N-sulfotransferase 1 ISO OMIM:142340 | OMIM:222400 | OMIM:610187 MouseDO NCBI chrNW_004624774:9,758,459...9,821,309
Ensembl chrNW_004624774:9,758,809...9,821,309
JBrowse link
G Nos3 nitric oxide synthase 3 ISO protein:decreased expression:pulmonary artery (rat) RGD PMID:29216632 RGD:13504720 NCBI chrNW_004624800:5,600,215...5,619,020
Ensembl chrNW_004624800:5,600,212...5,619,004
JBrowse link
G Nr2f2 nuclear receptor subfamily 2 group F member 2 ISO OMIM:142340 | OMIM:222400 | OMIM:610187 MouseDO NCBI chrNW_004624768:7,713,771...7,728,102
Ensembl chrNW_004624768:7,701,674...7,728,408
JBrowse link
G Pax3 paired box 3 ISO ClinVar Annotator: match by term: Congenital diaphragmatic hernia ClinVar PMID:8589691 PMID:8863157 PMID:9584079 PMID:9856573 PMID:23806086 More... NCBI chrNW_004624823:2,870,762...2,963,134
Ensembl chrNW_004624823:2,871,162...2,961,944
JBrowse link
G Pdgfra platelet derived growth factor receptor alpha ISO OMIM:142340 | OMIM:222400 | OMIM:610187 MouseDO NCBI chrNW_004624761:15,223,789...15,269,685
Ensembl chrNW_004624761:15,225,356...15,269,810
JBrowse link
G Pgap3 post-GPI attachment to proteins phospholipase 3 ISO ClinVar Annotator: match by term: Agenesis of hemidiaphragm ClinVar PMID:25741868 PMID:30345601 NCBI chrNW_004624795:3,399,648...3,408,277
Ensembl chrNW_004624795:3,399,699...3,408,277
JBrowse link
G Pim1 Pim-1 proto-oncogene, serine/threonine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:25812446 NCBI chrNW_004624754:20,810,398...20,815,182
Ensembl chrNW_004624754:20,808,701...20,815,206
JBrowse link
G Pls3 plastin 3 ISO ClinVar Annotator: match by term: Congenital diaphragmatic hernia ClinVar PMID:25741868 PMID:37751738 NCBI chrNW_004624940:120,073...216,522
Ensembl chrNW_004624940:120,073...216,622
JBrowse link
G Rhoa ras homolog family member A ISO CTD Direct Evidence: marker/mechanism CTD PMID:25783350 NCBI chrNW_004624730:3,316,122...3,361,820 JBrowse link
G Robo4 roundabout guidance receptor 4 ISO ClinVar Annotator: match by term: Congenital diaphragmatic hernia ClinVar NCBI chrNW_004624927:888,421...903,657
Ensembl chrNW_004624927:888,141...903,659
JBrowse link
G Sftpb surfactant protein B treatment ISO RGD PMID:11051153 RGD:151667435 NCBI chrNW_004624749:17,486,483...17,495,822
Ensembl chrNW_004624749:17,486,518...17,493,846
JBrowse link
G Slc6a4 solute carrier family 6 member 4 ISO protein:increased expression:lung RGD PMID:24888825 RGD:401901089 NCBI chrNW_004624786:2,673,285...2,711,432
Ensembl chrNW_004624786:2,672,552...2,710,914
JBrowse link
G Slit2 slit guidance ligand 2 ISO mRNA:increased expression:lung RGD PMID:19944214 RGD:243048459 NCBI chrNW_004624755:11,470,810...11,819,800
Ensembl chrNW_004624755:11,472,377...11,819,266
JBrowse link
G Slit3 slit guidance ligand 3 ISO mRNA:increased expression:lung
OMIM:142340 | OMIM:222400 | OMIM:610187
RGD
MouseDO
PMID:19944214 RGD:243048459 NCBI chrNW_004624733:20,683,680...21,293,663
Ensembl chrNW_004624733:20,683,814...21,291,088
JBrowse link
G Sod1 superoxide dismutase 1 ISO mRNA:decreased expression:lung RGD PMID:26534761 RGD:11035301 NCBI chrNW_004624745:20,032,003...20,037,958
Ensembl chrNW_004624745:20,032,011...20,037,958
JBrowse link
G Sod2 superoxide dismutase 2 ISO mRNA:decreased expression:lung RGD PMID:26534761 RGD:11035301 NCBI chrNW_004624855:3,260,800...3,271,864
Ensembl chrNW_004624855:3,260,809...3,271,367
JBrowse link
G Sox7 SRY-box transcription factor 7 ISO OMIM:142340 | OMIM:222400 | OMIM:610187 MouseDO NCBI chrNW_004624758:24,556,436...24,562,204
Ensembl chrNW_004624758:24,556,010...24,562,213
JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25812446 NCBI chrNW_004624795:1,648,235...1,680,788
Ensembl chrNW_004624795:1,648,080...1,681,200
JBrowse link
G Tnf tumor necrosis factor ISO RGD PMID:10541330 RGD:12904053 NCBI chrNW_004624754:24,623,059...24,625,647
Ensembl chrNW_004624754:24,623,425...24,625,531
JBrowse link
G Vegfa vascular endothelial growth factor A ISO protein:decreased expression:lung: RGD PMID:15879288 RGD:7421593 NCBI chrNW_004624754:15,929,414...15,943,637 JBrowse link
G Wnt11 Wnt family member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25783350 NCBI chrNW_004624817:931,686...952,474
Ensembl chrNW_004624817:932,970...952,326
JBrowse link
G Wt1 WT1 transcription factor ISO CTD Direct Evidence: marker/mechanism
OMIM:142340 | OMIM:222400 | OMIM:610187
CTD
MouseDO
PMID:21072664 NCBI chrNW_004624766:20,899,546...20,937,084
Ensembl chrNW_004624766:20,900,676...20,937,202
JBrowse link
G Zfpm2 zinc finger protein, FOG family member 2 ISO OMIM:142340 | OMIM:222400 | OMIM:610187 MouseDO NCBI chrNW_004624763:21,388,060...21,708,969
Ensembl chrNW_004624763:21,388,244...21,707,953
JBrowse link
CRYPTOZOOSPERMIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G M1ap meiosis 1 associated protein ISO ClinVar Annotator: match by term: Cryptozoospermia ClinVar PMID:25741868 PMID:32673564 NCBI chrNW_004624749:28,855,225...28,955,378
Ensembl chrNW_004624749:28,871,031...28,956,045
JBrowse link
G Sycp2 synaptonemal complex protein 2 ISO ClinVar Annotator: match by term: Cryptozoospermia ClinVar PMID:25741868 PMID:31866047 NCBI chrNW_004624741:26,108,446...26,208,184
Ensembl chrNW_004624741:26,122,385...26,203,154
JBrowse link
G Trim71 tripartite motif containing 71 ISO ClinVar Annotator: match by term: Cryptozoospermia ClinVar PMID:25741868 NCBI chrNW_004624788:10,858,490...10,929,693
Ensembl chrNW_004624788:10,859,932...10,929,029
JBrowse link
Deafness-Infertility Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Catsper2 cation channel sperm associated 2 ISO ClinVar Annotator: match by term: Deafness-infertility syndrome ClinVar PMID:19344877 PMID:24033266 PMID:25741868 NCBI chrNW_004624731:9,707,912...9,721,239 JBrowse link
G Ckmt1a creatine kinase, mitochondrial 1A ISO ClinVar Annotator: match by term: Deafness-infertility syndrome ClinVar PMID:25741868 NCBI chrNW_004624804:10,680,595...10,689,212
Ensembl chrNW_004624804:10,681,210...10,689,212
JBrowse link
G Pdia3 protein disulfide isomerase family A member 3 ISO ClinVar Annotator: match by term: Deafness-infertility syndrome ClinVar PMID:25741868 NCBI chrNW_004624804:10,754,978...10,784,641
Ensembl chrNW_004624804:10,755,103...10,784,337
JBrowse link
G Ppip5k1 diphosphoinositol pentakisphosphate kinase 1 ISO ClinVar Annotator: match by term: Deafness-infertility syndrome ClinVar PMID:25741868 NCBI chrNW_004624804:10,633,142...10,680,089
Ensembl chrNW_004624804:10,633,142...10,680,084
JBrowse link
G Strc stereocilin ISO ClinVar Annotator: match by term: Deafness-infertility syndrome ClinVar PMID:18414213 PMID:21078986 PMID:22147502 PMID:24033266 PMID:25157971 More... NCBI chrNW_004624838:2,894,945...2,913,030
Ensembl chrNW_004624838:2,896,147...2,910,268
JBrowse link
dermoid cyst of ovary term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxo3 forkhead box O3 ISO OMIM:166950 MouseDO NCBI chrNW_004624780:13,621,733...13,740,399
Ensembl chrNW_004624780:13,622,948...13,740,374
JBrowse link
Diaphragmatic Hernia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agt angiotensinogen ISO CTD Direct Evidence: marker/mechanism CTD PMID:16292651 NCBI chrNW_004624775:18,846,222...18,856,093
Ensembl chrNW_004624775:18,849,118...18,855,577
JBrowse link
G Agtr1 angiotensin II receptor type 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16292651 NCBI chrNW_004624730:25,964,848...26,006,468
Ensembl chrNW_004624730:25,964,811...26,006,463
JBrowse link
G Aqp5 aquaporin 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17245593 PMID:17270560 NCBI chrNW_004624816:2,326,059...2,329,525
Ensembl chrNW_004624816:2,326,010...2,329,544
JBrowse link
G Bmp4 bone morphogenetic protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18280291 NCBI chrNW_004624731:15,262,480...15,269,196
Ensembl chrNW_004624731:15,263,274...15,269,743
JBrowse link
G Cftr CF transmembrane conductance regulator ISO CTD Direct Evidence: therapeutic CTD PMID:16473863 NCBI chrNW_004624827:1,704,733...1,893,579 JBrowse link
G Edn1 endothelin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9473106 PMID:10693666 NCBI chrNW_004624756:13,842,482...13,849,003
Ensembl chrNW_004624756:13,842,164...13,849,029
JBrowse link
G Ednra endothelin receptor type A ISO CTD Direct Evidence: marker/mechanism CTD PMID:9473106 PMID:10693666 NCBI chrNW_004624853:6,298,406...6,362,353
Ensembl chrNW_004624853:6,302,751...6,360,089
JBrowse link
G Ednrb endothelin receptor type B ISO CTD Direct Evidence: marker/mechanism CTD PMID:10693666 NCBI chrNW_004624751:22,459,613...22,491,409
Ensembl chrNW_004624751:22,459,584...22,491,606
JBrowse link
G Eln elastin ISO CTD Direct Evidence: marker/mechanism CTD PMID:10359170 NCBI chrNW_004624740:13,856,932...13,886,266 JBrowse link
G Fgf18 fibroblast growth factor 18 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17303798 NCBI chrNW_004624733:18,599,186...18,633,065
Ensembl chrNW_004624733:18,599,557...18,633,016
JBrowse link
G Fgf2 fibroblast growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10646786 NCBI chrNW_004624777:3,268,674...3,321,424
Ensembl chrNW_004624777:3,268,953...3,321,145
JBrowse link
G Foxa2 forkhead box A2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16863852 NCBI chrNW_004624741:22,645,580...22,649,722
Ensembl chrNW_004624741:22,645,519...22,649,854
JBrowse link
G Gata4 GATA binding protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18280291 NCBI chrNW_004624758:25,278,878...25,319,317
Ensembl chrNW_004624758:25,278,874...25,319,318
JBrowse link
G Gata6 GATA binding protein 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18280291 NCBI chrNW_004624770:9,772,818...9,799,837
Ensembl chrNW_004624770:9,772,818...9,798,259
JBrowse link
G Gja1 gap junction protein alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16292552 PMID:16720372 NCBI chrNW_004624798:9,358,996...9,364,413
Ensembl chrNW_004624798:9,359,004...9,364,313
JBrowse link
G Hoxa5 homeobox A5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18351244 NCBI chrNW_004624739:3,461,779...3,464,543
Ensembl chrNW_004624739:3,461,800...3,464,785
JBrowse link
G Hoxb3 homeobox B3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18351244 NCBI chrNW_004624795:5,050,272...5,072,614
Ensembl chrNW_004624795:5,048,920...5,068,708
JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12759764 PMID:17245593 NCBI chrNW_004624828:2,432,584...2,451,997
Ensembl chrNW_004624828:2,432,550...2,453,071
JBrowse link
G Igf1 insulin like growth factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10370016 NCBI chrNW_004624750:5,881,065...5,954,799
Ensembl chrNW_004624750:5,881,091...5,952,300
JBrowse link
G Igf2 insulin like growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10370016 NCBI chrNW_004624767:14,969,977...14,997,577
Ensembl chrNW_004624767:14,969,866...14,979,026
JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18500730 NCBI chrNW_004624739:7,957,709...7,963,414
Ensembl chrNW_004624739:7,957,674...7,962,318
JBrowse link
G Kcna2 potassium voltage-gated channel subfamily A member 2