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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:Cysts
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Accession:DOID:9007583 term browser browse the term
Definition:Any fluid-filled closed cavity or sac that is lined by an EPITHELIUM. Cysts can be of normal, abnormal, non-neoplastic, or neoplastic tissues.
Synonyms:exact_synonym: Cyst
 primary_id: MESH:D003560;   RDO:0000738
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Cysts term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Flcn folliculin ISO CTD Direct Evidence: marker/mechanism CTD PMID:27072130 NCBI chr10:44,588,621...44,607,808
Ensembl chr10:44,588,624...44,607,769
JBrowse link
G Pkd1 polycystin 1, transient receptor potential channel interacting ISO CTD Direct Evidence: marker/mechanism CTD PMID:21685914 NCBI chr10:13,573,779...13,621,138
Ensembl chr10:13,573,021...13,621,128
JBrowse link
Caroli disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Angpt2 angiopoietin 2 IEP protein:increased expression:bile duct (rat) RGD PMID:16628643 RGD:2314213 NCBI chr16:71,088,364...71,138,805
Ensembl chr16:71,088,364...71,138,804
JBrowse link
G Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin ISO ClinVar Annotator: match by term: Caroli disease ClinVar PMID:1189128 PMID:11898128 PMID:12846734 PMID:12874454 PMID:15108277 More... NCBI chr 9:22,547,396...23,037,443 JBrowse link
G Ttc26 tetratricopeptide repeat domain 26 ISO ClinVar Annotator: match by term: Caroli disease ClinVar NCBI chr 4:67,090,622...67,154,707
Ensembl chr 4:67,090,660...67,147,903
JBrowse link
G Wdr19 WD repeat domain 19 ISO associated with Nephronophthisis 13;DNA:missense mutations:cds:multiple (human) RGD PMID:25726036 RGD:11528287 NCBI chr14:43,042,474...43,106,337
Ensembl chr14:43,042,478...43,106,288
JBrowse link
choledochal cyst term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aqp1 aquaporin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18988797 NCBI chr 4:84,482,512...84,494,690
Ensembl chr 4:84,482,512...84,494,690
JBrowse link
G Cftr CF transmembrane conductance regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:18988797 NCBI chr 4:46,561,269...46,728,759
Ensembl chr 4:46,560,885...46,728,756
JBrowse link
G Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin ISO CTD Direct Evidence: marker/mechanism
DNA:deletion:exon:
CTD PMID:18988797 PMID:15830394 RGD:14700991 NCBI chr 9:22,547,396...23,037,443 JBrowse link
G Sct secretin ISO CTD Direct Evidence: marker/mechanism CTD PMID:18988797 NCBI chr 1:196,382,941...196,383,635
Ensembl chr 1:196,382,856...196,383,658
JBrowse link
G Slc4a2 solute carrier family 4 member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18988797 NCBI chr 4:10,736,419...10,754,407
Ensembl chr 4:10,736,425...10,752,965
JBrowse link
Chudley-Mccullough syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcc1 chloride channel CLIC-like 1 ISO ClinVar Annotator: match by term: Chudley-McCullough syndrome ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 2:196,296,350...196,326,914
Ensembl chr 2:196,296,393...196,326,913
JBrowse link
G Gpsm2 G-protein signaling modulator 2 ISO ClinVar Annotator: match by term: GPSM2-Related Disorders
ClinVar Annotator: match by term: Chudley-McCullough syndrome
CTD Direct Evidence: marker/mechanism
DNA:deletion, transversion mutations:cds,splice junction:c.1471delG,c.741delC,c.1661C>A,c.1062+1G>T (human);
ClinVar Annotator: match by OMIM:604213
OMIM
ClinVar
CTD
PMID:10449658 PMID:20602914 PMID:21348867 PMID:22578326 PMID:22987632 More... RGD:11062393 NCBI chr 2:196,327,149...196,375,322
Ensembl chr 2:196,327,149...196,375,154
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 ISS OMIM:166950 MouseDO NCBI chr20:45,669,708...45,764,606
Ensembl chr20:45,672,995...45,764,561
JBrowse link
Follicular Cyst term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scarb1 scavenger receptor class B, member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20404351 NCBI chr12:31,296,143...31,362,649
Ensembl chr12:31,296,156...31,362,647
JBrowse link
Global Developmental Delay, Lung Cysts, Overgrowth, and Wilms Tumor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dicer1 dicer 1 ribonuclease III ISO ClinVar Annotator: match by term: GLOW SYNDROME OMIM
ClinVar
PMID:19556464 PMID:21266384 PMID:24676357 PMID:24839956 PMID:25741868 More... NCBI chr 6:123,627,529...123,692,278
Ensembl chr 6:123,631,250...123,693,965
JBrowse link
Jaw Cysts term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Plau plasminogen activator, urokinase severity ISO protein:increased expression:cyst, liquid (human) RGD PMID:20646237 RGD:6484123 NCBI chr15:3,456,230...3,462,732
Ensembl chr15:3,456,232...3,462,775
JBrowse link
Meckel syndrome 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nphp3 nephrocystin 3 ISO ClinVar Annotator: match by term: Meckel syndrome type 7 OMIM
ClinVar
PMID:9536098 PMID:12872122 PMID:16199547 PMID:17576681 PMID:17855640 More... NCBI chr 8:104,621,908...104,662,383
Ensembl chr 8:104,621,864...104,662,383
JBrowse link
megalencephalic leukoencephalopathy with subcortical cysts term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hepacam hepatic and glial cell adhesion molecule ISO ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:21419380 PMID:25741868 PMID:28492532 NCBI chr 8:37,087,864...37,106,759
Ensembl chr 8:37,087,857...37,105,920
JBrowse link
G Mlc1 modulator of VRAC current 1 ISO ClinVar Annotator: match by OMIM:604004
ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:11254442 PMID:11935341 PMID:12189496 PMID:12939431 PMID:14572144 More... NCBI chr 7:120,046,705...120,067,049
Ensembl chr 7:120,046,705...120,067,049
JBrowse link
megalencephalic leukoencephalopathy with subcortical cysts 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hepacam hepatic and glial cell adhesion molecule ISS
ISO
OMIM:604004
ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts 1
MouseDO
ClinVar
PMID:25741868 PMID:29389947 NCBI chr 8:37,087,864...37,106,759
Ensembl chr 8:37,087,857...37,105,920
JBrowse link
G Mlc1 modulator of VRAC current 1 ISO ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts 1 ClinVar
OMIM
PMID:11254442 PMID:11935341 PMID:12189496 PMID:12497630 PMID:12850517 More... NCBI chr 7:120,046,705...120,067,049
Ensembl chr 7:120,046,705...120,067,049
JBrowse link
megalencephalic leukoencephalopathy with subcortical cysts 2A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hepacam hepatic and glial cell adhesion molecule ISO ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts 2a
ClinVar Annotator: match by OMIM:613925
OMIM
ClinVar
PMID:21419380 PMID:25741868 NCBI chr 8:37,087,864...37,106,759
Ensembl chr 8:37,087,857...37,105,920
JBrowse link
megalencephalic leukoencephalopathy with subcortical cysts 2B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hepacam hepatic and glial cell adhesion molecule ISO ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with or without mental retardation
ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with mental retardation
ClinVar Annotator: match by OMIM:613926
OMIM
ClinVar
PMID:20517947 PMID:21419380 PMID:25741868 NCBI chr 8:37,087,864...37,106,759
Ensembl chr 8:37,087,857...37,105,920
JBrowse link
Mucocele term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb4 ATP binding cassette subfamily B member 4 ISO Gallbladder mucoceles OMIA PMID:15230443 PMID:17605668 PMID:20598156 PMID:26824341 NCBI chr 4:25,150,998...25,209,489
Ensembl chr 4:25,151,953...25,209,202
JBrowse link
nevoid basal cell carcinoma syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aopep aminopeptidase O ISO ClinVar Annotator: match by term: Gorlin syndrome ClinVar PMID:17703323 PMID:19557015 PMID:22382802 PMID:28492532 NCBI chr17:1,811,922...2,127,316
Ensembl chr17:1,811,980...2,127,331
JBrowse link
G Fancc FA complementation group C ISO ClinVar Annotator: match by term: Gorlin syndrome ClinVar PMID:16301862 PMID:16419085 PMID:17703323 PMID:18830227 PMID:19557015 More... NCBI chr17:1,680,660...1,822,610
Ensembl chr17:1,681,324...1,829,376
JBrowse link
G Gli1 GLI family zinc finger 1 ISO RGD PMID:15308259 RGD:12801443 NCBI chr 7:63,156,926...63,169,579
Ensembl chr 7:63,156,926...63,169,251
JBrowse link
G Gli2 GLI family zinc finger 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16936257 NCBI chr13:29,946,809...30,163,901
Ensembl chr13:29,946,809...30,163,574
JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: Gorlin syndrome
ClinVar Annotator: match by term: Basal cell nevus syndrome
DNA: splice-site mutation :exon
DNA: nonsense mutation:exon:p.W399* (human)
DNA:missense mutation:exon:p.E237EK (897G>A) (human)
DNA:mutations:exon, intron:multiple
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:109400
OMIM
ClinVar
CTD
PMID:1347096 PMID:8302318 PMID:8658145 PMID:8681379 PMID:8840969 More... RGD:13207424, RGD:13207421, RGD:12801443, RGD:12801422, RGD:12798568 NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333
JBrowse link
G Ptch2 patched 2 ISO ClinVar Annotator: match by term: Gorlin syndrome ClinVar
OMIM
PMID:9536098 PMID:17576681 PMID:18285427 PMID:25741868 PMID:28166811 More... NCBI chr 5:130,571,956...130,592,506
Ensembl chr 5:130,572,312...130,592,405
JBrowse link
G Pth parathyroid hormone ISO CTD Direct Evidence: marker/mechanism CTD PMID:24803734 NCBI chr 1:167,508,121...167,511,530
Ensembl chr 1:167,508,598...167,511,530
JBrowse link
G Shh sonic hedgehog signaling molecule ISO RGD PMID:9115210 RGD:12802345 NCBI chr 4:6,954,017...6,963,170
Ensembl chr 4:6,954,017...6,963,170
JBrowse link
G Smo smoothened, frizzled class receptor ISO RGD PMID:15308259 RGD:12801443 NCBI chr 4:58,344,101...58,372,828
Ensembl chr 4:58,343,529...58,373,829
JBrowse link
G Sufu SUFU negative regulator of hedgehog signaling ISO ClinVar Annotator: match by term: Gorlin syndrome
ClinVar Annotator: match by term: Fifth Phacomatosis
OMIM
ClinVar
PMID:9536098 PMID:12068298 PMID:16199547 PMID:17576681 PMID:19533801 More... NCBI chr 1:245,257,725...245,355,576
Ensembl chr 1:245,257,768...245,355,577
JBrowse link
oculoectodermal syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cluap1 clusterin associated protein 1 ISO ClinVar Annotator: match by term: Oculoectodermal syndrome ClinVar PMID:26820066 NCBI chr10:11,587,963...11,619,711
Ensembl chr10:11,588,017...11,619,711
JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Oculoectodermal syndrome
ClinVar Annotator: match by term: OCULOECTODERMAL SYNDROME, SOMATIC
ClinVar Annotator: match by term: Toriello-Lacassie-Droste syndrome
ClinVar
OMIM
PMID:2278970 PMID:2547513 PMID:3122217 PMID:3627975 PMID:8456858 More... NCBI chr 4:178,185,418...178,218,484 JBrowse link
G Nlrp5 NLR family, pyrin domain containing 5 ISO ClinVar Annotator: match by term: Oculoectodermal syndrome
ClinVar Annotator: match by term: Toriello-Lacassie-Droste syndrome
ClinVar PMID:20738330 PMID:26323243 NCBI chr 1:67,778,037...67,810,946
Ensembl chr 1:67,777,948...68,023,736
JBrowse link
Odontogenic Cysts term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smad4 SMAD family member 4 ISO RGD PMID:19703995 RGD:12880040 NCBI chr18:67,243,742...67,274,438
Ensembl chr18:67,243,742...67,274,438
JBrowse link
ovarian cyst term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agtr2 angiotensin II receptor, type 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21239663 NCBI chr  X:112,119,673...112,124,060
Ensembl chr  X:112,120,228...112,124,057
JBrowse link
G Ang angiogenin ISO CTD Direct Evidence: marker/mechanism CTD PMID:21239663 NCBI chr15:24,317,733...24,323,361 JBrowse link
G Atp6v0d2 ATPase H+ transporting V0 subunit D2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21239663 NCBI chr 5:33,336,257...33,385,354
Ensembl chr 5:33,336,264...33,385,354
JBrowse link
G C1qb complement C1q B chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:21239663 NCBI chr 5:149,118,843...149,124,394
Ensembl chr 5:149,118,846...149,124,407
JBrowse link
G Cacnb3 calcium voltage-gated channel auxiliary subunit beta 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21239663 NCBI chr 7:129,784,799...129,797,074
Ensembl chr 7:129,783,674...129,797,074
JBrowse link
G Cdh3 cadherin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21239663 NCBI chr19:34,393,596...34,444,084
Ensembl chr19:34,393,727...34,444,084
JBrowse link
G Cfd complement factor D ISO CTD Direct Evidence: marker/mechanism CTD PMID:21239663 NCBI chr 7:9,813,148...9,814,871
Ensembl chr 7:9,813,150...9,815,053
JBrowse link
G Col11a1 collagen type XI alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:21239663 NCBI chr 2:201,820,715...202,013,853
Ensembl chr 2:201,820,715...202,013,853
JBrowse link
G Cyp17a1 cytochrome P450, family 17, subfamily a, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18645707 NCBI chr 1:245,535,462...245,543,148
Ensembl chr 1:245,535,462...245,541,573
JBrowse link
G Fgd2 FYVE, RhoGEF and PH domain containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21239663 NCBI chr20:7,424,795...7,441,603
Ensembl chr20:7,424,790...7,441,603
JBrowse link
G Gabra1 gamma-aminobutyric acid type A receptor subunit alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21239663 NCBI chr10:26,595,151...26,650,611
Ensembl chr10:26,595,160...26,650,864
JBrowse link
G Gkn1 gastrokine 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21239663 NCBI chr 4:119,790,101...119,795,389
Ensembl chr 4:119,790,101...119,795,389
JBrowse link
G Gpr34 G protein-coupled receptor 34 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21239663 NCBI chr  X:9,104,829...9,113,796
Ensembl chr  X:9,104,565...9,148,601
JBrowse link
G Iars2 isoleucyl-tRNA synthetase 2, mitochondrial ISO CTD Direct Evidence: marker/mechanism CTD PMID:21239663 NCBI chr13:96,831,773...96,865,533
Ensembl chr13:96,831,484...96,865,501
JBrowse link
G Ihh Indian hedgehog signaling molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:21239663 NCBI chr 9:76,504,315...76,510,532
Ensembl chr 9:76,504,315...76,510,532
JBrowse link
G Madcam1 mucosal vascular addressin cell adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21239663 NCBI chr 7:10,036,301...10,039,703
Ensembl chr 7:10,036,301...10,039,703
JBrowse link
G Magohb mago homolog B, exon junction complex subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:21239663 NCBI chr 4:165,034,131...165,041,977
Ensembl chr 4:165,034,122...165,041,967
JBrowse link
G Mfap2 microfibril associated protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21239663 NCBI chr 5:153,312,068...153,320,266
Ensembl chr 5:153,314,711...153,320,259
JBrowse link
G Ms4a1 membrane spanning 4-domains A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21239663 NCBI chr 1:207,906,370...207,927,028
Ensembl chr 1:207,906,374...207,918,512
JBrowse link
G Msh2 mutS homolog 2 ISO ClinVar Annotator: match by term: Ovarian cyst ClinVar PMID:8872463 PMID:10564582 PMID:15849733 PMID:15955785 PMID:16216036 More... NCBI chr 6:6,813,793...6,872,960
Ensembl chr 6:6,813,795...6,872,938
JBrowse link
G Nfkb1 nuclear factor kappa B subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21239663 NCBI chr 2:224,016,214...224,132,135
Ensembl chr 2:224,016,214...224,110,404
JBrowse link
G Nmt2 N-myristoyltransferase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21239663 NCBI chr17:74,917,833...74,964,788
Ensembl chr17:74,917,833...74,961,080
JBrowse link
G Nr2f1 nuclear receptor subfamily 2, group F, member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21239663 NCBI chr 2:8,040,375...8,050,123
Ensembl chr 2:8,040,377...8,050,123
JBrowse link
G Nxph2 neurexophilin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21239663 NCBI chr 3:5,986,175...5,988,525
Ensembl chr 3:5,756,621...5,987,008
JBrowse link
G Pex14 peroxisomal biogenesis factor 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21239663 NCBI chr 5:159,399,776...159,536,260
Ensembl chr 5:159,399,776...159,536,272
JBrowse link
G Prkn parkin RBR E3 ubiquitin protein ligase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21239663 NCBI chr 1:48,688,651...49,882,520 JBrowse link
G Ptger4 prostaglandin E receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21239663 NCBI chr 2:54,330,563...54,347,451
Ensembl chr 2:54,335,424...54,346,670
JBrowse link
G Ptgs1 prostaglandin-endoperoxide synthase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21239663 NCBI chr 3:19,584,015...19,605,589
Ensembl chr 3:19,584,015...19,605,586
JBrowse link
G Rpl5 ribosomal protein L5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21239663 NCBI chr14:1,843,856...1,850,301
Ensembl chr14:1,843,770...1,850,290
JBrowse link
G Sfrp4 secreted frizzled-related protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21239663 NCBI chr17:45,278,867...45,330,806
Ensembl chr17:45,234,097...45,330,736
JBrowse link
G Timd4 T-cell immunoglobulin and mucin domain containing 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21239663 NCBI chr10:31,185,751...31,221,843 JBrowse link
G Tmbim4 transmembrane BAX inhibitor motif containing 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21239663 NCBI chr 7:55,718,690...55,733,277
Ensembl chr 7:55,718,699...55,742,773
JBrowse link
G Tmem59l transmembrane protein 59-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:21239663 NCBI chr16:18,941,370...18,945,381
Ensembl chr16:18,941,567...18,945,381
JBrowse link
G Tmod1 tropomodulin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21239663 NCBI chr 5:60,316,445...60,393,957
Ensembl chr 5:60,338,512...60,393,956
JBrowse link
Pancreatic Cyst term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il1b interleukin 1 beta disease_progression ISO RGD PMID:21266527 RGD:7794719 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
JBrowse link
G Pkd1 polycystin 1, transient receptor potential channel interacting ISO ClinVar Annotator: match by term: Pancreatic cyst ClinVar PMID:25741868 NCBI chr10:13,573,779...13,621,138
Ensembl chr10:13,573,021...13,621,128
JBrowse link
G Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin ISO DNA:deletion:exon: RGD PMID:17519956 PMID:18202188 RGD:14700917, RGD:14700921 NCBI chr 9:22,547,396...23,037,443 JBrowse link
Periodontal Cyst term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccl2 C-C motif chemokine ligand 2 ISO mRNA:increased expression:gingiva: RGD PMID:16101967 RGD:8661719 NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
JBrowse link
G Ccr2 C-C motif chemokine receptor 2 ISO mRNA:increased expression:gingiva: RGD PMID:16101967 RGD:8661719 NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100
JBrowse link
Pilonidal Sinus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgf4 fibroblast growth factor 4 ISO Dermoid sinus OMIA PMID:256350 PMID:1481220 PMID:2642687 PMID:4919487 PMID:5951011 More... NCBI chr 1:200,023,937...200,027,793
Ensembl chr 1:200,024,056...200,025,466
JBrowse link
polycystic liver disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alg9 ALG9, alpha-1,2-mannosyltransferase ISO ClinVar Annotator: match by term: Polycystic liver disease ClinVar PMID:25741868 PMID:26467025 PMID:31395617 NCBI chr 8:51,117,057...51,188,790
Ensembl chr 8:51,119,365...51,182,261
JBrowse link
G Cdc25a cell division cycle 25A treatment ISO RGD PMID:22155366 RGD:14700990 NCBI chr 8:109,864,356...109,882,734
Ensembl chr 8:109,864,478...109,882,701
JBrowse link
G Ganab glucosidase II alpha subunit ISO ClinVar Annotator: match by term: Polycystic liver disease
DNA:mutations: :
ClinVar PMID:27259053 PMID:31462075 RGD:11352639, RGD:14975304 NCBI chr 1:205,793,810...205,813,701
Ensembl chr 1:205,793,895...205,813,695
JBrowse link
G Gpbar1 G protein-coupled bile acid receptor 1 treatment ISO protein:increased expression: cholangiocyte RGD PMID:28543567 PMID:28543567 RGD:14700993, RGD:14700993 NCBI chr 9:75,862,151...75,863,140
Ensembl chr 9:75,860,677...75,863,168
JBrowse link
G Pkd1 polycystin 1, transient receptor potential channel interacting severity ISO RGD PMID:21685914 PMID:9988265 RGD:14402033, RGD:14402035 NCBI chr10:13,573,779...13,621,138
Ensembl chr10:13,573,021...13,621,128
JBrowse link
G Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin ISO ClinVar Annotator: match by term: Polycystic liver disease ClinVar PMID:11898128 PMID:11919560 PMID:12506140 PMID:12846734 PMID:12874454 More... RGD:14700921 NCBI chr 9:22,547,396...23,037,443 JBrowse link
G Prkcsh protein kinase C substrate 80K-H ISS OMIM:174050 MouseDO NCBI chr 8:20,534,787...20,546,493
Ensembl chr 8:20,534,880...20,546,492
JBrowse link
G Ucp2 uncoupling protein 2 ISS OMIM:174050 MouseDO NCBI chr 1:154,839,242...154,845,612
Ensembl chr 1:154,839,209...154,845,611
JBrowse link
Polycystic Liver Disease 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Polycystic liver disease 1 ClinVar NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889
JBrowse link
G Hdac6 histone deacetylase 6 treatment IEP
IMP
ISO
mRNA,protein:increased expression:cholangiocytee,liver:
protein:increased expression:liver:
RGD PMID:24434010 PMID:24434010 PMID:24434010 RGD:9681551, RGD:9681551, RGD:9681551 NCBI chr  X:14,550,645...14,572,445
Ensembl chr  X:14,551,044...14,572,441
JBrowse link
G Lrp5 LDL receptor related protein 5 susceptibility ISO
IAGP
ClinVar Annotator: match by term: Polycystic liver disease 1
DNA:missense mutation:cds:p.R118W (3562C>T) (human)
ClinVar PMID:24706814 PMID:24706814 RGD:11063140 NCBI chr 1:200,814,247...200,917,581
Ensembl chr 1:200,814,250...200,917,581
JBrowse link
G Odad3 outer dynein arm docking complex subunit 3 ISO ClinVar Annotator: match by term: Polycystic liver disease 1 ClinVar NCBI chr 8:20,520,898...20,534,499
Ensembl chr 8:20,520,898...20,534,499
JBrowse link
G Pkd1 polycystin 1, transient receptor potential channel interacting ISO ClinVar Annotator: match by term: Polycystic liver disease 1 ClinVar PMID:25741868 NCBI chr10:13,573,779...13,621,138
Ensembl chr10:13,573,021...13,621,128
JBrowse link
G Pkd2 polycystin 2, transient receptor potential cation channel ISO ClinVar Annotator: match by term: Polycystic liver disease 1 ClinVar PMID:25741868 NCBI chr14:5,237,135...5,280,455
Ensembl chr14:5,237,135...5,280,825
JBrowse link
G Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin ISO ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease ClinVar PMID:11898128 PMID:11919560 PMID:12506140 PMID:12846734 PMID:12874454 More... NCBI chr 9:22,547,396...23,037,443 JBrowse link
G Prkcsh protein kinase C substrate 80K-H ISO ClinVar Annotator: match by term: Polycystic liver disease 1
DNA:splice site mutations, deletions:multiple
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:11047756 PMID:12529853 PMID:12577059 PMID:16835903 PMID:21685914 More... RGD:14402048 NCBI chr 8:20,534,787...20,546,493
Ensembl chr 8:20,534,880...20,546,492
JBrowse link
G Sec63 SEC63 homolog, protein translocation regulator ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Polycystic liver disease 1
CTD
ClinVar
PMID:21685914 NCBI chr20:46,245,101...46,314,055
Ensembl chr20:46,245,101...46,314,055
JBrowse link
Polycystic Liver Disease 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sec63 SEC63 homolog, protein translocation regulator ISO ClinVar Annotator: match by OMIM:617004
ClinVar Annotator: match by term: Polycystic liver disease 2
DNA:mutations:multiple
ClinVar
OMIM
PMID:15133510 PMID:25741868 PMID:28492532 PMID:15133510 RGD:14402049 NCBI chr20:46,245,101...46,314,055
Ensembl chr20:46,245,101...46,314,055
JBrowse link
Polycystic Liver Disease 3 with or without Kidney Cysts term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alg8 ALG8, alpha-1,3-glucosyltransferase ISO ClinVar Annotator: match by term: POLYCYSTIC LIVER DISEASE 3 WITH OR WITHOUT KIDNEY CYSTS ClinVar
OMIM
PMID:25741868 PMID:28375157 PMID:28492532 NCBI chr 1:151,684,344...151,704,310
Ensembl chr 1:151,684,396...151,704,302
JBrowse link
Polycystic Liver Disease 4 with or without Kidney Cysts term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrp5 LDL receptor related protein 5 ISO ClinVar Annotator: match by term: POLYCYSTIC LIVER DISEASE 4 WITH OR WITHOUT KIDNEY CYSTS
ClinVar Annotator: match by term: Polycystic liver disease 4 with or without kidney cysts
ClinVar
OMIM
PMID:24706814 PMID:25741868 PMID:28492532 NCBI chr 1:200,814,247...200,917,581
Ensembl chr 1:200,814,250...200,917,581
JBrowse link
polycystic ovary syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb6 ATP binding cassette subfamily B member 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 9:76,668,554...76,677,263
Ensembl chr 9:76,668,554...76,676,924
JBrowse link
G Adamts7 ADAM metallopeptidase with thrombospondin type 1 motif, 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 8:90,704,727...90,744,331
Ensembl chr 8:90,704,727...90,744,328
JBrowse link
G Adarb1 adenosine deaminase, RNA-specific, B1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr20:11,222,569...11,350,854
Ensembl chr20:11,222,583...11,350,852
JBrowse link
G Adipoq adiponectin, C1Q and collagen domain containing ISO RGD PMID:16868149 RGD:8694433 NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564
JBrowse link
G Adm adrenomedullin ISO CTD Direct Evidence: therapeutic CTD PMID:33491863 NCBI chr 1:164,745,484...164,747,655
Ensembl chr 1:164,745,466...164,747,654
JBrowse link
G Adra1a adrenoceptor alpha 1A IEP mRNA,protein:increased expression:ovary RGD PMID:15795180 RGD:5508374 NCBI chr15:40,830,125...40,935,902
Ensembl chr15:40,832,534...40,927,500
JBrowse link
G Adra1b adrenoceptor alpha 1B IEP mRNA,protein:increased expression:ovary RGD PMID:15795180 RGD:5508374 NCBI chr10:28,255,025...28,373,418
Ensembl chr10:28,255,025...28,312,919
JBrowse link
G Adra1d adrenoceptor alpha 1D IEP mRNA,protein:increased expression:ovary RGD PMID:15795180 RGD:5508374 NCBI chr 3:118,793,356...118,809,354
Ensembl chr 3:118,793,346...118,809,354
JBrowse link
G Adrb2 adrenoceptor beta 2 IEP mRNA,protein:decreased expression:ovary RGD PMID:15795180 RGD:5508374 NCBI chr18:55,642,459...55,644,501
Ensembl chr18:55,502,903...55,644,512
JBrowse link
G Adrb3 adrenoceptor beta 3 IEP mRNA:increased expression:gastrointestinal system mesentery, adipose tissue RGD PMID:19158405 RGD:2313167 NCBI chr16:64,839,820...64,844,552
Ensembl chr16:64,841,788...64,844,552
JBrowse link
G Akr1c2 aldo-keto reductase family 1, member C2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22381227 NCBI chr17:65,759,778...65,808,013
Ensembl chr17:65,759,788...65,775,764
JBrowse link
G Akr1c3 aldo-keto reductase family 1, member C3 IEP
ISO
CTD Direct Evidence: marker/mechanism CTD PMID:16263811 PMID:21262361 PMID:22381227 PMID:8402388 RGD:11541125 NCBI chr17:66,110,970...66,127,867
Ensembl chr17:66,110,963...66,127,873
JBrowse link
G Akt2 AKT serine/threonine kinase 2 ISS OMIM:184700 MouseDO NCBI chr 1:82,877,228...82,933,828
Ensembl chr 1:82,883,547...82,933,817
JBrowse link
G Amh anti-Mullerian hormone ISO protein:increased expression:serum RGD PMID:17224152 RGD:1601181 NCBI chr 7:8,906,776...8,909,184
Ensembl chr 7:8,906,836...8,909,282
JBrowse link
G Anln anillin, actin binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 8:20,858,227...20,921,602
Ensembl chr 8:20,858,228...20,921,538
JBrowse link
G Ar androgen receptor no_association ISO RGD PMID:15950642 RGD:1578688 NCBI chr  X:63,104,771...63,273,934
Ensembl chr  X:63,104,771...63,273,925
JBrowse link
G Arhgap23 Rho GTPase activating protein 23 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr10:82,437,578...82,496,846
Ensembl chr10:82,394,648...82,496,504
JBrowse link
G Arhgap30 Rho GTPase activating protein 30 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr13:83,822,290...83,843,634
Ensembl chr13:83,822,283...83,854,885
JBrowse link
G Aspm assembly factor for spindle microtubules ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr13:51,074,849...51,123,755
Ensembl chr13:51,074,849...51,123,755
JBrowse link
G Atf1 activating transcription factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 7:131,361,962...131,404,677
Ensembl chr 7:131,362,450...131,404,670
JBrowse link
G Atp5f1b ATP synthase F1 subunit beta IEP mRNA, protein:decreased expression:pancreas (rat) RGD PMID:28397049 RGD:13703107 NCBI chr 7:515,454...521,858
Ensembl chr 7:515,460...567,273
JBrowse link
G Azgp1 alpha-2-glycoprotein 1, zinc-binding ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr12:16,930,990...16,939,333
Ensembl chr12:16,931,024...16,939,091
JBrowse link
G Bax BCL2 associated X, apoptosis regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:21062263 NCBI chr 1:95,940,001...95,945,407
Ensembl chr 1:95,938,808...95,945,368
JBrowse link
G Bbof1 basal body orientation factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 6:104,055,246...104,081,036
Ensembl chr 6:104,055,241...104,082,071
JBrowse link
G Bcl11a BAF chromatin remodeling complex subunit BCL11A ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr14:98,029,018...98,124,181
Ensembl chr14:98,030,461...98,124,180
JBrowse link
G Bcl2 BCL2, apoptosis regulator IEP
ISO
protein:increased expression:ovary
CTD Direct Evidence: marker/mechanism
CTD PMID:21062263 PMID:21062263 RGD:10054496 NCBI chr13:22,689,783...22,853,920 JBrowse link
G Bloc1s3 biogenesis of lysosomal organelles complex-1, subunit 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 1:79,155,914...79,158,326
Ensembl chr 1:79,155,693...79,158,505
JBrowse link
G Bmp15 bone morphogenetic protein 15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22825968 NCBI chr  X:16,169,123...16,174,187
Ensembl chr  X:16,169,123...16,174,187
JBrowse link
G Camk2d calcium/calmodulin-dependent protein kinase II delta ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 2:215,023,785...215,287,351
Ensembl chr 2:215,024,004...215,286,178
JBrowse link
G Capn10 calpain 10 ISO DNA:SNPs RGD PMID:17106059 RGD:1625046 NCBI chr 9:93,498,132...93,510,494
Ensembl chr 9:93,498,478...93,510,494
JBrowse link
G Carmil3 capping protein regulator and myosin 1 linker 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr15:28,978,440...28,995,865
Ensembl chr15:28,979,007...28,996,225
JBrowse link
G Ccnb1 cyclin B1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 2:31,912,190...31,921,163
Ensembl chr 2:31,912,193...31,921,172
JBrowse link
G Ccne2 cyclin E2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 5:24,285,078...24,298,258
Ensembl chr 5:24,284,922...24,297,632
JBrowse link
G Cd36 CD36 molecule IDA protein:decreased expression:cardiac muscle cell RGD PMID:25702158 RGD:11041149 NCBI chr 4:17,317,343...17,410,084 JBrowse link
G Cdc6 cell division cycle 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr10:83,864,189...83,878,011
Ensembl chr10:83,864,638...83,878,011
JBrowse link
G Cdh15 cadherin 15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr19:50,903,757...50,927,151
Ensembl chr19:50,903,638...50,927,105
JBrowse link
G Cep55 centrosomal protein 55 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 1:235,832,823...235,848,401
Ensembl chr 1:235,832,878...235,848,394
JBrowse link
G Cks2 CDC28 protein kinase regulatory subunit 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr17:13,570,611...13,575,770 JBrowse link
G Cldn4 claudin 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr12:21,751,638...21,753,436
Ensembl chr12:21,751,331...21,753,436
JBrowse link
G Cmtr2 cap methyltransferase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr19:38,190,718...38,197,549
Ensembl chr19:38,190,642...38,197,804
JBrowse link
G Cntrob centrobin, centriole duplication and spindle assembly protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr10:54,022,523...54,047,793
Ensembl chr10:54,022,852...54,044,849
JBrowse link
G Comt catechol-O-methyltransferase ISO protein:increased expression:ovary RGD PMID:17535988 RGD:2289711 NCBI chr11:82,568,052...82,587,642
Ensembl chr11:82,568,025...82,587,642
JBrowse link
G Cyp17a1 cytochrome P450, family 17, subfamily a, polypeptide 1 ISO protein:increased activity:ovary follicle, theca cell (human) RGD PMID:11739466 RGD:4888511 NCBI chr 1:245,535,462...245,543,148
Ensembl chr 1:245,535,462...245,541,573
JBrowse link
G Cyp19a1 cytochrome P450, family 19, subfamily a, polypeptide 1 susceptibility ISO
IMP
IEP
DNA:missense mutation:cds:p.A264C (rs700519) (human)
CTD Direct Evidence: marker/mechanism
mRNA, protein:decreased expresssion:ovary
CTD PMID:8265607 PMID:9177373 PMID:21262361 PMID:22381227 PMID:21282199 More... RGD:7257710, RGD:7257726, RGD:7257717 NCBI chr 8:54,553,165...54,580,758
Ensembl chr 8:54,553,165...54,580,758
JBrowse link
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 ISO RGD PMID:18339256 RGD:11576309 NCBI chr 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125
JBrowse link
G Dact3 dishevelled-binding antagonist of beta-catenin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 1:77,546,900...77,558,631
Ensembl chr 1:77,546,900...77,558,630
JBrowse link
G Dcbld2 discoidin, CUB and LCCL domain containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr11:42,125,787...42,179,927
Ensembl chr11:42,125,787...42,179,697
JBrowse link
G Ddx54 DEAD-box helicase 54 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr12:35,934,713...35,949,956
Ensembl chr12:35,934,716...35,972,523
JBrowse link
G Dlg4 discs large MAGUK scaffold protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr10:54,740,700...54,769,097
Ensembl chr10:54,739,470...54,767,153
JBrowse link
G Dmd dystrophin ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr  X:47,272,324...49,504,219
Ensembl chr  X:47,272,331...49,504,207
JBrowse link
G Elavl3 ELAV like RNA binding protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 8:20,547,108...20,583,369
Ensembl chr 8:20,550,201...20,583,641
JBrowse link
G Emsy EMSY transcriptional repressor, BRCA2 interacting ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 1:152,881,485...152,960,420
Ensembl chr 1:152,883,992...152,953,528
JBrowse link
G Errfi1 ERBB receptor feedback inhibitor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 5:161,323,981...161,337,289
Ensembl chr 5:161,323,998...161,337,282
JBrowse link
G Fbxo44 F-box protein 44 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 5:158,583,363...158,592,510
Ensembl chr 5:158,583,366...158,592,363
JBrowse link
G Fgf18 fibroblast growth factor 18 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr10:17,706,011...17,737,702
Ensembl chr10:17,706,174...17,736,818
JBrowse link
G Flt4 Fms related receptor tyrosine kinase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr10:33,913,725...33,954,770
Ensembl chr10:33,913,608...33,954,770
JBrowse link
G Foxp3 forkhead box P3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr  X:14,908,494...14,924,994
Ensembl chr  X:14,908,494...14,923,838
JBrowse link
G Fshr follicle stimulating hormone receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:22885925 NCBI chr 6:5,198,825...5,406,785
Ensembl chr 6:5,198,825...5,406,785
JBrowse link
G Fst follistatin ISO DNA:polymorphism RGD PMID:10411917 RGD:1601259 NCBI chr 2:46,123,260...46,130,584
Ensembl chr 2:46,123,439...46,130,571
JBrowse link
G Fut7 fucosyltransferase 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 3:8,237,687...8,242,273
Ensembl chr 3:8,239,384...8,242,260
JBrowse link
G Gab1 GRB2-associated binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr19:27,131,262...27,239,236
Ensembl chr19:27,131,262...27,239,236
JBrowse link
G Gdf9 growth differentiation factor 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22825968 NCBI chr10:37,589,200...37,599,970
Ensembl chr10:37,595,679...37,599,672
JBrowse link
G Gip gastric inhibitory polypeptide ISO associated with Obesity; protein:increased expression:plasma (human) RGD PMID:19375579 RGD:2312588 NCBI chr10:80,968,410...80,976,506
Ensembl chr10:80,968,352...80,976,503
JBrowse link
G Gnas GNAS complex locus ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 3:163,071,003...163,136,350
Ensembl chr 3:163,071,417...163,127,262
Ensembl chr 3:163,071,417...163,127,262
JBrowse link
G Gp1bb glycoprotein Ib platelet subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr11:82,378,216...82,379,393
Ensembl chr11:82,378,199...82,379,392
JBrowse link
G Hacd1 3-hydroxyacyl-CoA dehydratase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr17:77,081,508...77,106,114
Ensembl chr17:77,083,740...77,106,073
JBrowse link
G Hells helicase, lymphoid specific ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 1:236,701,704...236,748,239
Ensembl chr 1:236,701,758...236,746,844
JBrowse link
G Hmmr hyaluronan-mediated motility receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr10:25,132,933...25,163,029
Ensembl chr10:25,132,977...25,163,060
JBrowse link
G Hook3 hook microtubule-tethering protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr16:65,954,293...66,058,812 JBrowse link
G Hsd17b7 hydroxysteroid (17-beta) dehydrogenase 7 IEP mRNA:decreased expression:ovarian cortex (rat) RGD PMID:25887459 RGD:10402205 NCBI chr13:82,170,079...82,190,018
Ensembl chr13:82,173,179...82,190,017
JBrowse link
G Hsd3b1 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 IEP
ISO
protein:increased expression:ovary (rat)
CTD Direct Evidence: marker/mechanism
protein:increased activity:ovary follicle, theca cell (human)
CTD PMID:22381227 PMID:19698287 PMID:11739466 RGD:4145934, RGD:4888511 NCBI chr 2:186,169,864...186,175,984
Ensembl chr 2:186,169,863...186,175,999
JBrowse link
G Hsd3b2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22381227 NCBI chr 2:186,095,897...186,105,354
Ensembl chr 2:186,095,897...186,101,852
JBrowse link
G Igf1 insulin-like growth factor 1 ISO protein:increased expression:serum: RGD PMID:15653207 RGD:8549491 NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
JBrowse link
G Ighg1 immunoglobulin heavy constant gamma 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 Ensembl chr 6:132,389,370...132,393,397 JBrowse link
G Il34 interleukin 34 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr19:38,714,990...38,782,749
Ensembl chr19:38,714,991...38,764,000
JBrowse link
G Ins2 insulin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:2777199 PMID:11889176 PMID:16123091 NCBI chr 1:197,843,277...197,992,522
Ensembl chr 1:197,843,281...197,864,775
JBrowse link
G Iqcc IQ motif containing C ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 5:141,957,901...141,962,143
Ensembl chr 5:141,958,504...141,967,382
JBrowse link
G Isyna1 inositol-3-phosphate synthase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr16:18,839,143...18,841,979
Ensembl chr16:18,839,145...18,841,979
JBrowse link
G Kics2 KICSTOR subunit 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 7:57,284,213...57,299,070
Ensembl chr 7:57,284,192...57,297,486
JBrowse link
G Larp4 La ribonucleoprotein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 7:131,104,470...131,152,692 JBrowse link
G Lep leptin ISO CTD Direct Evidence: marker/mechanism CTD PMID:22381227 NCBI chr 4:57,661,127...57,675,262
Ensembl chr 4:57,661,131...57,675,262
JBrowse link
G Lhb luteinizing hormone subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:11889176 PMID:20378617 NCBI chr 1:95,898,269...95,901,973
Ensembl chr 1:95,900,984...95,901,972
Ensembl chr 1:95,900,984...95,901,972
JBrowse link
G Lif LIF, interleukin 6 family cytokine ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr14:79,131,049...79,140,486
Ensembl chr14:79,134,574...79,140,482
JBrowse link
G Lifr LIF receptor subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 2:56,224,393...56,292,988
Ensembl chr 2:56,250,120...56,286,699
JBrowse link
G Lmna lamin A/C ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423
JBrowse link
G Lpcat2 lysophosphatidylcholine acyltransferase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr19:14,088,389...14,152,742
Ensembl chr19:14,089,686...14,152,829
JBrowse link
G Lratd1 LRAT domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 6:36,916,969...36,922,143
Ensembl chr 6:36,913,469...36,922,319
JBrowse link
G Lsm5 LSM5 homolog, U6 small nuclear RNA and mRNA degradation associated ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 4:85,951,073...85,954,289
Ensembl chr 6:104,652,477...104,654,165
Ensembl chr 4:104,652,477...104,654,165
JBrowse link
G Ltk leukocyte receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 3:106,734,675...106,741,552
Ensembl chr 3:106,734,676...106,743,369
JBrowse link
G Mad2l1 mitotic arrest deficient 2 like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 4:95,906,692...95,918,885
Ensembl chr 4:95,906,817...95,913,470
JBrowse link
G Manea mannosidase, endo-alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 5:40,196,373...40,218,534
Ensembl chr 5:40,196,396...40,218,459
JBrowse link
G Mapk8ip3 mitogen-activated protein kinase 8 interacting protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr10:13,918,417...13,958,335
Ensembl chr10:13,918,400...13,958,273
JBrowse link
G Mapre3 microtubule-associated protein, RP/EB family, member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 6:25,513,800...25,558,876
Ensembl chr 6:25,513,800...25,558,881
JBrowse link
G Mgat5b alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase B ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr10:102,120,757...102,190,235
Ensembl chr10:102,120,445...102,190,233
JBrowse link
G Mmp2 matrix metallopeptidase 2 IEP protein:decreased expression:ovary RGD PMID:21910062 RGD:9999396 NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
JBrowse link
G Morn1 MORN repeat containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 5:165,646,817...165,704,892
Ensembl chr 5:165,646,991...165,704,892
JBrowse link
G Mtnr1b melatonin receptor 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:20207350 NCBI chr 8:12,638,219...12,652,737
Ensembl chr 8:12,638,219...12,652,737
JBrowse link
G Mybl1 MYB proto-oncogene like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 5:9,582,905...9,618,179
Ensembl chr 5:9,582,934...9,618,183
JBrowse link
G Ncoa4 nuclear receptor coactivator 4 ISO protein:increased expression:endometrium RGD PMID:16580389 RGD:2293533 NCBI chr16:7,389,222...7,409,564
Ensembl chr16:7,366,542...7,409,641
Ensembl chr16:7,366,542...7,409,641
JBrowse link
G Ncor1 nuclear receptor co-repressor 1 IEP
IAGP
mRNA:increased expression:ovary (rat)
DNA:hypomethylation:promoter:g.218, 224 (rat)
RGD PMID:22349439 PMID:22349439 RGD:5688285, RGD:5688285 NCBI chr10:46,999,536...47,142,294
Ensembl chr10:46,999,536...47,141,032
JBrowse link
G Ngfr nerve growth factor receptor IEP mRNA,protein:increased expression:ovary RGD PMID:15795180 RGD:5508374 NCBI chr10:80,515,287...80,533,518
Ensembl chr10:80,515,299...80,533,518
JBrowse link
G Nmnat3 nicotinamide nucleotide adenylyltransferase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 8:98,892,168...99,003,912
Ensembl chr 8:98,873,398...99,020,645
JBrowse link
G Nop53 NOP53 ribosome biogenesis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 1:76,629,084...76,636,902
Ensembl chr 1:76,629,069...76,636,902
JBrowse link
G Npb neuropeptide B ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr10:105,883,992...105,887,689 JBrowse link
G Nr3c1 nuclear receptor subfamily 3, group C, member 1 IEP mRNA:increased expression:ovary RGD PMID:22176470 RGD:7174741 NCBI chr18:31,271,681...31,393,320
Ensembl chr18:31,271,681...31,393,375
JBrowse link
G Nrg1 neuregulin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr16:59,250,658...60,303,024
Ensembl chr16:59,250,854...60,296,884
JBrowse link
G Odf3b outer dense fiber of sperm tails 3B ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 7:120,444,232...120,447,383
Ensembl chr 7:120,444,232...120,446,749
JBrowse link
G Pbk PDZ binding kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr15:40,022,873...40,034,014
Ensembl chr15:40,023,002...40,034,014
JBrowse link
G Pde3b phosphodiesterase 3B ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 1:168,606,762...168,770,078
Ensembl chr 1:168,607,022...168,769,334
JBrowse link
G Pdlim4 PDZ and LIM domain 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr10:38,198,686...38,212,935
Ensembl chr10:38,198,689...38,212,938
JBrowse link
G Pecam1 platelet and endothelial cell adhesion molecule 1 ISO protein:increased expression:serum (human) RGD PMID:22456311 RGD:6767304 NCBI chr10:91,590,521...91,652,279
Ensembl chr10:91,590,521...91,652,116
JBrowse link
G Pgr progesterone receptor IEP protein:decreased expression:ovary: RGD PMID:19698287 RGD:4145934 NCBI chr 8:6,073,216...6,131,552
Ensembl chr 8:6,072,673...6,131,344
JBrowse link
G Plekhg5 pleckstrin homology and RhoGEF domain containing G5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 5:162,577,999...162,621,518
Ensembl chr 5:162,578,071...162,621,513
JBrowse link
G Pnpla2 patatin-like phospholipase domain containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 1:196,552,723...196,557,805
Ensembl chr 1:196,552,723...196,557,805
JBrowse link
G Prkd2 protein kinase D2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 1:77,513,625...77,542,386
Ensembl chr 1:77,513,986...77,542,376
JBrowse link
G Ptafr platelet-activating factor receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 5:144,765,770...144,795,057
Ensembl chr 5:144,765,976...144,795,251
JBrowse link
G Ptcra pre T-cell antigen receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 9:14,218,366...14,229,141
Ensembl chr 9:14,218,802...14,229,235
JBrowse link
G Ptger3 prostaglandin E receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 2:246,606,131...246,750,970
Ensembl chr 2:246,606,183...246,684,434
JBrowse link
G Pwwp2b PWWP domain containing 2B ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 1:194,040,395...194,059,979
Ensembl chr 1:194,041,341...194,059,958
JBrowse link
G Rab2a RAB2A, member RAS oncogene family ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 5:21,676,219...21,738,833
Ensembl chr 5:21,676,129...21,739,899
JBrowse link
G Racgap1 Rac GTPase-activating protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 7:130,750,936...130,780,891
Ensembl chr 7:130,750,936...130,780,831
JBrowse link
G Rarres2 retinoic acid receptor responder 2 treatment IEP RGD PMID:24762064 RGD:15036823 NCBI chr 4:77,522,549...77,525,733
Ensembl chr 4:77,522,535...77,525,556
JBrowse link
G Rasl10b RAS-like, family 10, member B ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr10:68,209,761...68,222,118
Ensembl chr10:68,210,275...68,220,376
JBrowse link
G Rbp4 retinol binding protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17456573 NCBI chr 1:235,893,917...235,901,315
Ensembl chr 1:235,893,917...235,901,399
JBrowse link
G Rexo1 RNA exonuclease 1 homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 7:9,154,050...9,173,454
Ensembl chr 7:9,154,061...9,173,454
JBrowse link
G RGD1564865 similar to 20-alpha-hydroxysteroid dehydrogenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:22381227 NCBI chr17:65,847,580...65,881,488
Ensembl chr17:65,835,634...65,881,488
JBrowse link
G Rhpn1 rhophilin, Rho GTPase binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 7:107,391,948...107,402,713
Ensembl chr 7:107,391,984...107,402,713
JBrowse link
G Rp2 RP2 activator of ARL3 GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr  X:1,872,581...1,916,704
Ensembl chr  X:1,873,306...1,916,688
JBrowse link
G Rpl37a ribosomal protein L37a ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543
G Rrm2 ribonucleotide reductase regulatory subunit M2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 6:41,339,858...41,346,774
Ensembl chr 6:41,340,557...41,346,773
JBrowse link
G Runx3 RUNX family transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 5:147,393,926...147,419,161
Ensembl chr 5:147,360,994...147,419,156
JBrowse link
G S100a7a S100 calcium binding protein A7A ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 2:176,151,405...176,155,846
Ensembl chr 2:176,151,288...176,156,441
JBrowse link
G Sap30l SAP30-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr10:41,980,151...41,992,307
Ensembl chr10:41,979,687...41,987,658
JBrowse link
G Scnn1a sodium channel epithelial 1 subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 4:158,122,962...158,146,184
Ensembl chr 4:158,122,962...158,146,181
JBrowse link
G Sct secretin ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 1:196,382,941...196,383,635
Ensembl chr 1:196,382,856...196,383,658
JBrowse link
G Serpine1 serpin family E member 1 ISO protein:increased expression:plasma: RGD PMID:19375763 RGD:13208505 NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
JBrowse link
G Sftpc surfactant protein C ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr15:45,596,565...45,599,615
Ensembl chr15:45,596,574...45,610,777
JBrowse link
G Slpi secretory leukocyte peptidase inhibitor IEP protein:increased expression:ovary RGD PMID:21910062 RGD:9999396 NCBI chr 3:153,082,208...153,084,457
Ensembl chr 3:153,082,369...153,084,453
JBrowse link
G Sox15 SRY-box transcription factor 15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr10:54,373,602...54,376,591
Ensembl chr10:54,372,403...54,376,591
JBrowse link
G Spata21 spermatogenesis associated 21 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 5:153,393,309...153,419,430
Ensembl chr 5:153,393,365...153,418,561
JBrowse link
G Sptbn4 spectrin, beta, non-erythrocytic 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 1:82,650,750...82,738,345
Ensembl chr 1:82,650,751...82,737,228
JBrowse link
G Srd5a1 steroid 5 alpha-reductase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 PMID:22381227 NCBI chr 1:33,686,069...33,720,468
Ensembl chr 1:33,686,391...33,720,461
JBrowse link
G Srsf10 serine and arginine rich splicing factor 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 5:148,088,765...148,102,964
Ensembl chr 5:148,088,823...148,101,768
JBrowse link
G Star steroidogenic acute regulatory protein IEP
ISO
protein:increased expression:ovary (rat)
CTD Direct Evidence: marker/mechanism
CTD PMID:21262361 PMID:19698287 RGD:4145934 NCBI chr16:66,267,094...66,274,368
Ensembl chr16:66,264,807...66,271,672
JBrowse link
G Tab1 TGF-beta activated kinase 1/MAP3K7 binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 7:111,675,829...111,707,058
Ensembl chr 7:111,686,371...111,707,058
JBrowse link
G Tbx1 T-box transcription factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr11:82,409,275...82,419,058
Ensembl chr11:82,409,275...82,418,380
JBrowse link
G Tcf15 transcription factor 15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 3:140,638,984...140,644,766
Ensembl chr 3:140,638,984...140,644,766
JBrowse link
G Tead2 TEA domain transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 1:95,702,366...95,719,186
Ensembl chr 1:95,703,005...95,719,186
JBrowse link
G Tfrc transferrin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr11:68,163,413...68,185,257
Ensembl chr11:68,163,413...68,185,257
JBrowse link
G Th tyrosine hydroxylase IEP mRNA,protein:increased expression:ovary RGD PMID:15795180 RGD:5508374 NCBI chr 1:198,071,500...198,078,832
Ensembl chr 1:198,071,503...198,109,767
JBrowse link
G Thap3 THAP domain containing 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 5:162,488,480...162,494,149
Ensembl chr 5:162,488,480...162,494,149
JBrowse link
G Tmeff2 transmembrane protein with EGF-like and two follistatin-like domains 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 9:50,445,550...50,733,482
Ensembl chr 9:50,436,079...50,733,475
JBrowse link
G Tmem151a transmembrane protein 151A ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 1:202,387,397...202,392,243
Ensembl chr 1:202,388,240...202,392,182
JBrowse link
G Tmem151b transmembrane protein 151B ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 9:15,456,746...15,464,287 JBrowse link
G Tmf1 TATA element modulatory factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 4:129,759,952...129,785,705
Ensembl chr 4:129,763,114...129,785,629
JBrowse link
G Tnfsf10 TNF superfamily member 10 IEP protein:increased expression:ovary follicle, granulosa cell RGD PMID:17641850 RGD:2312746 NCBI chr 2:110,199,835...110,227,239
Ensembl chr 2:110,207,916...110,225,135
JBrowse link
G Tnpo2 transportin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr19:23,099,398...23,119,696
Ensembl chr19:23,099,401...23,119,596
JBrowse link
G Tnrc6b trinucleotide repeat containing adaptor 6B ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 7:112,252,351...112,469,829
Ensembl chr 7:112,252,359...112,461,790
JBrowse link
G Tonsl tonsoku-like, DNA repair protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 7:108,345,704...108,360,792
Ensembl chr 7:108,346,047...108,360,750
JBrowse link
G Top2a DNA topoisomerase II alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr10:83,946,186...83,975,694
Ensembl chr10:83,945,735...83,976,874
JBrowse link
G Trpv6 transient receptor potential cation channel, subfamily V, member 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 4:70,507,347...70,523,013
Ensembl chr 4:70,507,348...70,523,017
JBrowse link
G Ttk Ttk protein kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 8:84,754,329...84,792,653
Ensembl chr 8:84,754,315...84,792,651
JBrowse link
G Ttll9 tubulin tyrosine ligase like 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 3:141,429,351...141,475,965
Ensembl chr 3:141,429,444...141,475,865
JBrowse link
G Ube2h ubiquitin-conjugating enzyme E2H ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 4:58,834,674...58,930,156
Ensembl chr 4:58,834,674...58,930,156
JBrowse link
G Vdr vitamin D receptor susceptibility ISO DNA:polymorphism,haplotype: :rs731236(human) RGD PMID:24078159 RGD:13210783 NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677
JBrowse link
G Vegfa vascular endothelial growth factor A ISO protein:increased expression:serum: RGD PMID:15653207 RGD:8549491 NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
JBrowse link
G Zfp13 zinc finger protein 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr10:12,615,470...12,623,615
Ensembl chr10:12,615,190...12,623,615
JBrowse link
G Zmym5 zinc finger MYM-type containing 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr15:30,920,479...30,941,249
Ensembl chr15:30,923,241...30,941,240
JBrowse link
G Zswim9 zinc finger SWIM-type containing 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 1:74,144,818...74,165,804
Ensembl chr 1:74,144,814...74,166,009
JBrowse link
Radicular Cyst term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccl7 C-C motif chemokine ligand 7 ISO protein:increased expression:periodontal ligament RGD PMID:20646081 RGD:6483772 NCBI chr10:67,016,446...67,018,296
Ensembl chr10:67,016,446...67,018,303
JBrowse link
ring dermoid of cornea term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pitx2 paired-like homeodomain 2 ISO ClinVar Annotator: match by term: Ring dermoid of cornea
ClinVar Annotator: match by OMIM:180550
OMIM
ClinVar
PMID:15378534 PMID:15591271 PMID:25741868 PMID:26220699 PMID:28166811 More... NCBI chr 2:217,717,738...217,737,293
Ensembl chr 2:217,717,693...217,737,293
JBrowse link
RNASET2-deficient cystic leukoencephalopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ndufa2 NADH:ubiquinone oxidoreductase subunit A2 ISO ClinVar Annotator: match by term: Cystic Leukoencephalopathy ClinVar PMID:25741868 PMID:27159321 PMID:28857146 NCBI chr18:28,355,774...28,357,863
Ensembl chr18:28,355,774...28,358,076
JBrowse link
G Rnaset2 ribonuclease T2 ISO ClinVar Annotator: match by term: Leukoencephalopathy, cystic, without megalencephaly
ClinVar Annotator: match by OMIM:612951
OMIM
ClinVar
PMID:19525954 PMID:25741868 PMID:28492532 NCBI chr 1:52,576,344...52,603,151
Ensembl chr 1:52,585,929...52,603,147
JBrowse link
G Tmco6 transmembrane and coiled-coil domains 6 ISO ClinVar Annotator: match by term: Cystic Leukoencephalopathy ClinVar PMID:25741868 PMID:27159321 PMID:28857146 NCBI chr18:28,349,248...28,355,843
Ensembl chr18:28,349,248...28,355,843
JBrowse link
Urachal Cyst term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Xdh xanthine dehydrogenase ISO ClinVar Annotator: match by term: Urachal cyst ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:21,530,463...21,592,172
Ensembl chr 6:21,530,113...21,592,268
JBrowse link
Van der Woude syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Grhl3 grainyhead-like transcription factor 3 ISS
ISO
OMIM:119300 | OMIM:606713
ClinVar Annotator: match by term: Van der Woude syndrome
MouseDO
ClinVar
PMID:25741868 NCBI chr 5:147,774,160...147,806,338
Ensembl chr 5:147,774,160...147,806,160
JBrowse link
G Irf6 interferon regulatory factor 6 ISO ClinVar Annotator: match by term: van der Woude syndrome 1
ClinVar Annotator: match by term: Van der Woude syndrome
ClinVar Annotator: match by OMIM:119300
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:12219090 PMID:12920575 PMID:14618417 PMID:14757865 PMID:15317890 More... NCBI chr13:104,672,179...104,691,386
Ensembl chr13:104,672,179...104,691,386
JBrowse link
G LOC100125367 hypothetical protein LOC100125367 ISO ClinVar Annotator: match by term: Van der Woude syndrome ClinVar PMID:14618417 NCBI chr13:104,692,769...104,695,368
Ensembl chr13:104,692,824...104,695,470
JBrowse link
Van der Woude Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cfap57 cilia and flagella associated protein 57 ISO ClinVar Annotator: match by null ClinVar PMID:21574244 NCBI chr 5:132,074,404...132,148,102
Ensembl chr 5:132,074,395...132,148,462
JBrowse link
G Grhl3 grainyhead-like transcription factor 3 ISO ClinVar Annotator: match by term: Van der Woude syndrome 2
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:11781685 PMID:16199547 PMID:20184620 PMID:22590528 PMID:22829784 More... NCBI chr 5:147,774,160...147,806,338
Ensembl chr 5:147,774,160...147,806,160
JBrowse link
G Stpg1 sperm-tail PG-rich repeat containing 1 ISO ClinVar Annotator: match by term: Van der Woude syndrome 2 ClinVar PMID:28492532 NCBI chr 5:147,717,084...147,769,792
Ensembl chr 5:147,726,646...147,769,788
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17208
    disease of cellular proliferation 7037
      Cysts 265
        Aplasia Cutis Congenita, Congenital Heart Defect, and Frontonasal Cysts 0
        Arachnoid Cysts + 2
        Bone Cysts + 16
        Branchioma 0
        Bronchogenic Cyst 0
        Colloid Cysts + 0
        Cystic Medial Necrosis of Aorta 0
        Ectodermal Dysplasia Adrenal Cyst 0
        Epidermal Cyst + 0
        Esophageal Cyst 0
        Follicular Cyst + 1
        Ganglion Cysts 0
        Global Developmental Delay, Lung Cysts, Overgrowth, and Wilms Tumor 1
        Mediastinal Cysts 0
        Mesenteric Cyst 0
        Microphthalmia Associated with Colobomatous Cyst 0
        Mucocele + 1
        Pancreatic Cyst + 4
        Pilonidal Sinus 1
        RNASET2-deficient cystic leukoencephalopathy 3
        Sener Syndrome 0
        Synovial Cyst + 0
        Tarlov Cysts 0
        Thyroglossal Cyst + 0
        Urachal Cyst + 1
        Van der Woude syndrome + 5
        breast cyst + 0
        choledochal cyst + 8
        dermoid cyst + 5
        lymphocele + 0
        megalencephalic leukoencephalopathy with subcortical cysts + 2
        meibomian cyst 0
        mucocele of salivary gland 0
        ovarian cyst + 202
        parovarian cyst 0
        polycystic liver disease + 16
        spermatocele 0
Path 2
Term Annotations click to browse term
  disease 17208
    Pathological Conditions, Signs and Symptoms 10236
      Anatomical Pathological Conditions 2003
        Cysts 265
          Aplasia Cutis Congenita, Congenital Heart Defect, and Frontonasal Cysts 0
          Arachnoid Cysts + 2
          Bone Cysts + 16
          Branchioma 0
          Bronchogenic Cyst 0
          Colloid Cysts + 0
          Cystic Medial Necrosis of Aorta 0
          Ectodermal Dysplasia Adrenal Cyst 0
          Epidermal Cyst + 0
          Esophageal Cyst 0
          Follicular Cyst + 1
          Ganglion Cysts 0
          Global Developmental Delay, Lung Cysts, Overgrowth, and Wilms Tumor 1
          Mediastinal Cysts 0
          Mesenteric Cyst 0
          Microphthalmia Associated with Colobomatous Cyst 0
          Mucocele + 1
          Pancreatic Cyst + 4
          Pilonidal Sinus 1
          RNASET2-deficient cystic leukoencephalopathy 3
          Sener Syndrome 0
          Synovial Cyst + 0
          Tarlov Cysts 0
          Thyroglossal Cyst + 0
          Urachal Cyst + 1
          Van der Woude syndrome + 5
          breast cyst + 0
          choledochal cyst + 8
          dermoid cyst + 5
          lymphocele + 0
          megalencephalic leukoencephalopathy with subcortical cysts + 2
          meibomian cyst 0
          mucocele of salivary gland 0
          ovarian cyst + 202
          parovarian cyst 0
          polycystic liver disease + 16
          spermatocele 0
paths to the root