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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
 narrow_synonym: Endometrial Cyst;   Nabothian Cyst
 primary_id: MESH:D003560
 xref: EFO:1000232;   EFO:1000390


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 Ift56 intraflagellar transport 56 ISO ClinVar Annotator: match by term: Caroli disease ClinVar PMID:25741868 PMID:31595528 PMID:32617964 NCBI chr 4:67,090,622...67,154,707
Ensembl chr 4:67,090,660...67,147,903 		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
Ensembl chr 9:22,549,513...23,037,381 		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
Cerebroretinal Microangiopathy with Calcifications and Cysts term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctc1 CST telomere replication complex component 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Coats plus syndrome		 CTD
ClinVar		 PMID:22267198 PMID:22387016 PMID:23220793 PMID:23869908 PMID:24033266 More... NCBI chr10:53,714,614...53,735,298
Ensembl chr10:53,714,644...53,735,298 		JBrowse link
G Stn1 STN1 subunit of CST complex ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:246,391,311...246,429,844
Ensembl chr 1:246,395,613...246,429,531 		JBrowse link
Cerebroretinal Microangiopathy with Calcifications and Cysts 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctc1 CST telomere replication complex component 1 ISO ClinVar Annotator: match by term: CTC1-related condition | ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 1 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:16943371 PMID:17576681 PMID:18076099 More... NCBI chr10:53,714,614...53,735,298
Ensembl chr10:53,714,644...53,735,298 		JBrowse link
G Pfas phosphoribosylformylglycinamidine synthase ISO ClinVar Annotator: match by term: CTC1-related condition | ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 1 ClinVar PMID:22267198 PMID:22387016 PMID:24115768 PMID:25741868 PMID:28492532 More... NCBI chr10:53,690,301...53,711,811
Ensembl chr10:53,691,626...53,708,420 		JBrowse link
Cerebroretinal Microangiopathy with Calcifications and Cysts 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Stn1 STN1 subunit of CST complex ISO ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 2 OMIM
ClinVar		 PMID:25741868 PMID:27432940 PMID:28492532 NCBI chr 1:246,391,311...246,429,844
Ensembl chr 1:246,395,613...246,429,531 		JBrowse link
Cerebroretinal Microangiopathy with Calcifications and Cysts 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pot1 protection of telomeres 1 ISO ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 3 ClinVar
OMIM		 PMID:27013236 PMID:28492532 NCBI chr 4:54,205,330...54,263,137
Ensembl chr 4:54,205,332...54,263,042 		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
RGD		 PMID:18988797 PMID:15830394 RGD:14700991 NCBI chr 9:22,547,396...23,037,443
Ensembl chr 9:22,549,513...23,037,381 		JBrowse link
G Sct secretin ISO CTD Direct Evidence: marker/mechanism CTD PMID:18988797 NCBI chr 1:196,382,857...196,383,668
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 Annotator: match by term: GPSM2-Related Disorders 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: Chudley-McCullough syndrome | ClinVar Annotator: match by term: Deafness, autosomal recessive 82 | ClinVar Annotator: match by term: Deafness, bilateral sensorineural, and hydrocephalus due to foramen of monro obstruction | ClinVar Annotator: match by term: GPSM2-Related Disorders
CTD Direct Evidence: marker/mechanism
DNA:deletion, transversion mutations:cds,splice junction:c.1471delG,c.741delC,c.1661C>A,c.1062+1G>T (human);		 OMIM
ClinVar
CTD
RGD		 PMID:9536098 PMID:10449658 PMID:17576681 PMID:20602914 PMID:21348867 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 Notch2 notch receptor 2 ISO CTD Direct Evidence: therapeutic CTD PMID:37277016 NCBI chr 2:185,610,594...185,744,088
Ensembl chr 2:185,610,589...185,744,088 		JBrowse link
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 | ClinVar Annotator: match by term: GLOW Syndrome OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19556464 PMID:21205968 More... NCBI chr 6:123,627,529...123,692,278
Ensembl chr 6:123,631,250...123,693,965 		JBrowse link
Isolated Caroli Disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin ISO ClinVar Annotator: match by term: Cystic dilatation of the intrahepatic biliary tree ClinVar PMID:1189128 PMID:11898128 PMID:12874454 PMID:15698423 PMID:15805161 More... NCBI chr 9:22,547,396...23,037,443
Ensembl chr 9:22,549,513...23,037,381 		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
Labrune Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alox12b arachidonate 12-lipoxygenase, 12R type ISO ClinVar Annotator: match by term: Leukoencephalopathy, brain calcifications, and cysts ClinVar NCBI chr10:53,863,060...53,874,938
Ensembl chr10:53,863,060...53,874,938 		JBrowse link
G Snord118 small nucleolar RNA, C/D box 118 ISO ClinVar Annotator: match by term: LABRUNE SYNDROME | ClinVar Annotator: match by term: Leukoencephalopathy, brain calcifications, and cysts
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:25741868 PMID:27571260 PMID:28177126 PMID:28492532 PMID:29260032 More... NCBI chr10:53,774,811...53,774,946
Ensembl chr10:53,774,811...53,774,946 		JBrowse link
G Tmem107 transmembrane protein 107 ISO ClinVar Annotator: match by term: LABRUNE SYNDROME | ClinVar Annotator: match by term: Leukoencephalopathy, brain calcifications, and cysts ClinVar PMID:25741868 PMID:26595381 PMID:27571260 PMID:28177126 PMID:28492532 More... NCBI chr10:53,772,153...53,774,685
Ensembl chr10:53,771,784...53,774,676 		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: Dandy-Walker cyst with renal-hepatic-pancreatic dysplasia | ClinVar Annotator: match by term: Meckel syndrome type 7
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 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
ISS		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Leukoencephalopathy with swelling and cysts | ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts		 CTD
MouseDO
ClinVar		 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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Leukoencephalopathy with swelling and cysts | ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts		 CTD
ClinVar		 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 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gstt2 glutathione S-transferase theta 2 ISO ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts 1 ClinVar PMID:25741868 NCBI chr20:12,819,617...12,823,288
Ensembl chr20:12,819,170...12,823,288 		JBrowse link
G Hepacam hepatic and glial cell adhesion molecule ISO ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts 1 | ClinVar Annotator: match by term: VAN DER KNAAP DISEASE ClinVar PMID:25741868 PMID:28492532 PMID:29389947 PMID:29915382 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
ISS		 ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts 1 | ClinVar Annotator: match by term: VAN DER KNAAP DISEASE
OMIM:604004		 OMIM
ClinVar
MouseDO		 PMID:9536098 PMID:11254442 PMID:11935341 PMID:12189496 PMID:12497630 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: HEPACAM-related condition | ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts 2A OMIM
ClinVar		 PMID:21419380 PMID:25044933 PMID:25741868 PMID:26633542 PMID:28492532 More... 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 IMPAIRED INTELLECTUAL DEVELOPMENT | ClinVar Annotator: match by term: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2B, REMITTING, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT | ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability OMIM
ClinVar		 PMID:20517947 PMID:21419380 PMID:24202401 PMID:25044933 PMID:25741868 More... 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 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gprc5b G protein-coupled receptor, class C, group 5, member B ISO ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts 3 OMIM
ClinVar		 PMID:37143309 NCBI chr 1:173,316,904...173,340,933
Ensembl chr 1:173,316,907...173,340,932 		JBrowse link
Megalencephalic Leukoencephalopathy with Subcortical Cysts 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aqp4 aquaporin 4 ISO ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts 4, remitting OMIM
ClinVar		 PMID:25741868 PMID:37143309 NCBI chr18:6,507,903...6,524,558
Ensembl chr18:6,507,903...6,524,856 		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:17924555 PMID:22382802 PMID:28492532 NCBI chr17:1,811,281...2,127,316
Ensembl chr17:1,811,980...2,127,331 		JBrowse link
G Arl3 ARF like GTPase 3 ISO ClinVar Annotator: match by term: Gorlin syndrome ClinVar PMID:12068298 PMID:22508808 PMID:25403219 PMID:28492532 PMID:31639285 NCBI chr 1:245,400,659...245,446,673
Ensembl chr 1:245,400,550...245,446,820 		JBrowse link
G Cyp17a1 cytochrome P450, family 17, subfamily a, polypeptide 1 ISO ClinVar Annotator: match by term: Gorlin syndrome ClinVar PMID:12068298 PMID:22508808 PMID:25403219 PMID:28492532 PMID:31639285 NCBI chr 1:245,535,462...245,543,148
Ensembl chr 1:245,535,462...245,541,573 		JBrowse link
G Fancc FA complementation group C ISO ClinVar Annotator: match by term: Gorlin syndrome ClinVar PMID:16301862 PMID:16419085 PMID:17703323 PMID:17924555 PMID:22382802 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 chr13:29,946,882...30,163,589
Ensembl chr13:29,946,809...30,163,574 		JBrowse link
G Ptch1 patched 1 ISO
ISS		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Basal cell nevus syndrome | ClinVar Annotator: match by term: Gorlin syndrome | ClinVar Annotator: match by term: MULTIPLE BASAL CELL NEVI, ODONTOGENIC KERATOCYSTS, AND SKELETAL ANOMALIES
ClinVar Annotator: match by term: Basal cell nevus syndrome | ClinVar Annotator: match by term: Fifth Phacomatosis | ClinVar Annotator: match by term: Gorlin syndrome | ClinVar Annotator: match by term: Gorlin-Goltz 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
ClinVar
MouseDO
RGD		 PMID:1347096 PMID:1850296 PMID:8302318 PMID:8658145 PMID:8681379 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: Basal cell nevus syndrome | ClinVar Annotator: match by term: Gorlin syndrome ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:18285427 PMID:23951062 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 Sfxn2 sideroflexin 2 ISO ClinVar Annotator: match by term: Gorlin syndrome ClinVar PMID:12068298 PMID:22508808 PMID:25403219 PMID:28492532 PMID:31639285 NCBI chr 1:245,447,014...245,459,312
Ensembl chr 1:245,447,015...245,468,411
Ensembl chr 1:245,447,015...245,468,411 		JBrowse link
G Shh sonic hedgehog signaling molecule ISO
ISS		 MouseDO
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 4:58,343,626...58,373,823
Ensembl chr 4:58,343,529...58,373,829 		JBrowse link
G Sufu SUFU negative regulator of hedgehog signaling ISS
ISO		 OMIM:109400
ClinVar Annotator: match by term: Basal cell nevus syndrome | ClinVar Annotator: match by term: Gorlin syndrome
ClinVar Annotator: match by term: Fifth Phacomatosis | ClinVar Annotator: match by term: Gorlin syndrome		 MouseDO
ClinVar		 PMID:9536098 PMID:12068298 PMID:16199547 PMID:17102621 PMID:17576681 More... NCBI chr 1:245,257,725...245,355,576
Ensembl chr 1:245,257,768...245,355,577 		JBrowse link
G Trim8 tripartite motif-containing 8 ISO ClinVar Annotator: match by term: Gorlin syndrome ClinVar PMID:12068298 PMID:22508808 PMID:25403219 PMID:28492532 PMID:31639285 NCBI chr 1:245,369,632...245,384,513
Ensembl chr 1:245,369,632...245,384,513 		JBrowse link
G Wbp1l WW domain binding protein 1-like ISO ClinVar Annotator: match by term: Gorlin syndrome ClinVar PMID:12068298 PMID:22508808 PMID:25403219 PMID:28492532 PMID:31639285 NCBI chr 1:245,472,292...245,528,627
Ensembl chr 1:245,472,296...245,528,627 		JBrowse link
nevoid basal cell carcinoma syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ptch1 patched 1 ISO DNA:mutations:multiple
ClinVar Annotator: match by term: Basal cell nevus syndrome 1		 ClinVar
OMIM
RGD		 PMID:8658145 PMID:8681379 PMID:12900905 PMID:16199547 PMID:16301862 More... RGD:407424595 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: Basal cell nevus syndrome 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:130,571,956...130,592,506
Ensembl chr 5:130,572,312...130,592,405 		JBrowse link
nevoid basal cell carcinoma syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sufu SUFU negative regulator of hedgehog signaling ISO ClinVar Annotator: match by term: Basal cell nevus syndrome 2 | ClinVar Annotator: match by term: NEVOID BASAL CELL CARCINOMA SYNDROME 2 ClinVar
OMIM		 PMID:12068298 PMID:19533801 PMID:19833601 PMID:21188540 PMID:22508808 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: Toriello-Lacassie-Droste 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: Aplasia cutis congenita with epibulbar dermoids | ClinVar Annotator: match by term: OCULOECTODERMAL SYNDROME, SOMATIC | ClinVar Annotator: match by term: Toriello-Lacassie-Droste syndrome OMIM
ClinVar		 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: Toriello-Lacassie-Droste syndrome ClinVar PMID:20738330 PMID:26323243 NCBI chr 1:67,778,037...67,810,941
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:112,119,876...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 chr15:24,312,711...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 chr13:96,831,484...96,865,518
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
Ensembl chr 1:48,690,556...49,882,555 		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 Smarcb1 SWI/SNF related BAF chromatin remodeling complex subunit B1 susceptibility ISO RGD PMID:29684361 RGD:155804292 NCBI chr20:12,741,164...12,763,616
Ensembl chr20:12,741,477...12,763,620 		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
Ensembl chr10:31,185,731...31,220,966 		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
G Vhl von Hippel-Lindau tumor suppressor susceptibility ISO RGD PMID:29684361 RGD:155804292 NCBI chr 4:146,772,483...146,779,376
Ensembl chr 4:146,772,468...146,779,377 		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 cysts 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
Ensembl chr 9:22,549,513...23,037,381 		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 Alg8 ALG8, alpha-1,3-glucosyltransferase ISO ClinVar Annotator: match by term: Congenital cystic disease of liver ClinVar PMID:19688606 PMID:19862844 PMID:25741868 PMID:26066342 PMID:28106320 More... NCBI chr 1:151,684,344...151,704,310
Ensembl chr 1:151,684,396...151,704,302 		JBrowse link
G Alg9 ALG9, alpha-1,2-mannosyltransferase ISO ClinVar Annotator: match by term: Congenital cystic disease of liver ClinVar PMID:25741868 PMID:26467025 PMID:27391121 PMID:28492532 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 ClinVar Annotator: match by term: Congenital cystic disease of liver ClinVar
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 Ctnnb1 catenin beta 1 ISO ClinVar Annotator: match by term: Congenital cystic disease of liver ClinVar PMID:28492532 NCBI chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111 		JBrowse link
G Dkk3 dickkopf WNT signaling pathway inhibitor 3 ISO ClinVar Annotator: match by term: Congenital cystic disease of liver ClinVar NCBI chr 1:166,237,969...166,281,271
Ensembl chr 1:166,238,238...166,280,590 		JBrowse link
G Ganab glucosidase II alpha subunit ISO DNA:mutations:
ClinVar Annotator: match by term: Congenital cystic disease of liver
DNA:mutations: :		 ClinVar
RGD		 PMID:25741868 PMID:28492532 PMID:33097077 PMID:31462075 PMID:27259053 RGD:14975304, RGD:11352639 NCBI chr 1:205,793,910...205,813,704
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 9:75,860,758...75,863,260
Ensembl chr 9:75,860,677...75,863,168 		JBrowse link
G Hhex hematopoietically expressed homeobox ISO ClinVar Annotator: match by term: Congenital cystic disease of liver ClinVar NCBI chr 1:235,190,455...235,196,042
Ensembl chr 1:235,190,455...235,196,042 		JBrowse link
G Hnf1b HNF1 homeobox B ISO ClinVar Annotator: match by term: Congenital cystic disease of liver ClinVar PMID:15930087 PMID:16249435 PMID:18065799 PMID:19639018 PMID:20633866 More... NCBI chr10:68,735,894...68,789,888
Ensembl chr10:68,735,894...68,789,888 		JBrowse link
G Hnf4a hepatocyte nuclear factor 4, alpha ISO ClinVar Annotator: match by term: Congenital cystic disease of liver ClinVar PMID:10227563 PMID:21105491 PMID:23227446 PMID:23247789 PMID:24097065 More... NCBI chr 3:152,186,787...152,248,320
Ensembl chr 3:152,186,787...152,248,320 		JBrowse link
G Lrp5 LDL receptor related protein 5 ISO ClinVar Annotator: match by term: Congenital cystic disease of liver ClinVar PMID:25741868 PMID:28492532 PMID:30452590 NCBI chr 1:200,814,247...200,917,581
Ensembl chr 1:200,814,250...200,917,581 		JBrowse link
G Lrp6 LDL receptor related protein 6 ISO ClinVar Annotator: match by term: Congenital cystic disease of liver ClinVar PMID:26901136 PMID:28492532 NCBI chr 4:167,269,856...167,400,364
Ensembl chr 4:167,270,353...167,400,497 		JBrowse link
G Nf2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor ISO ClinVar Annotator: match by term: Congenital cystic disease of liver ClinVar NCBI chr14:79,627,399...79,710,709
Ensembl chr14:79,627,399...79,710,667 		JBrowse link
G Onecut1 one cut homeobox 1 ISO ClinVar Annotator: match by term: Congenital cystic disease of liver ClinVar PMID:25741868 NCBI chr 8:75,599,432...75,633,598
Ensembl chr 8:75,599,740...75,627,277 		JBrowse link
G Onecut2 one cut homeobox 2 ISO ClinVar Annotator: match by term: Congenital cystic disease of liver ClinVar NCBI chr18:57,831,647...57,890,884
Ensembl chr18:57,832,111...57,879,629 		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 Pkd2 polycystin 2, transient receptor potential cation channel ISO ClinVar Annotator: match by term: Congenital cystic disease of liver ClinVar 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: Congenital cystic disease of liver ClinVar
RGD		 PMID:1189128 PMID:11898128 PMID:11919560 PMID:12506140 PMID:12846734 More... RGD:14700921 NCBI chr 9:22,547,396...23,037,443
Ensembl chr 9:22,549,513...23,037,381 		JBrowse link
G Prkcsh PRKCSH beta subunit of glucosidase II ISO
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:174050
ClinVar Annotator: match by term: Congenital cystic disease of liver		 CTD
MouseDO
ClinVar		 PMID:21685914 PMID:24719335 PMID:25741868 PMID:28492532 NCBI chr 8:20,534,787...20,546,493
Ensembl chr 8:20,534,880...20,546,492 		JBrowse link
G Ruvbl1 RuvB-like AAA ATPase 1 ISO ClinVar Annotator: match by term: Congenital cystic disease of liver ClinVar NCBI chr 4:120,932,486...120,967,400
Ensembl chr 4:120,932,417...121,029,384 		JBrowse link
G Sec61a1 SEC61 translocon subunit alpha 1 ISO ClinVar Annotator: match by term: Congenital cystic disease of liver ClinVar NCBI chr 4:120,973,519...120,987,871
Ensembl chr 4:120,960,626...120,987,925 		JBrowse link
G Sec61a2 SEC61 translocon subunit alpha 2 ISO ClinVar Annotator: match by term: Congenital cystic disease of liver ClinVar NCBI chr17:72,407,574...72,445,630
Ensembl chr17:72,407,671...72,434,494 		JBrowse link
G Sec63 SEC63 homolog, protein translocation regulator ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital cystic disease of liver		 CTD
ClinVar		 PMID:20095989 PMID:21685914 PMID:25741868 NCBI chr20:46,245,101...46,314,055
Ensembl chr20:46,245,101...46,314,055 		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
G Xbp1 X-box binding protein 1 ISO ClinVar Annotator: match by term: Congenital cystic disease of liver ClinVar PMID:25741868 NCBI chr14:80,390,629...80,395,713
Ensembl chr14:80,390,643...80,395,693 		JBrowse link
polycystic liver disease 1 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: Isolated autosomal dominant polycystic liver disease ClinVar PMID:19688606 PMID:19862844 PMID:25741868 PMID:26066342 PMID:28106320 More... NCBI chr 1:151,684,344...151,704,310
Ensembl chr 1:151,684,396...151,704,302 		JBrowse link
G Alg9 ALG9, alpha-1,2-mannosyltransferase ISO ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease ClinVar PMID:25741868 PMID:26467025 PMID:27391121 PMID:28492532 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 ISO ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease | ClinVar Annotator: match by term: Isolated polycystic liver disease ClinVar NCBI chr 8:109,864,356...109,882,734
Ensembl chr 8:109,864,478...109,882,701 		JBrowse link
G Ctnnb1 catenin beta 1 ISO ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease ClinVar PMID:28492532 NCBI chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111 		JBrowse link
G Dkk3 dickkopf WNT signaling pathway inhibitor 3 ISO ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease ClinVar NCBI chr 1:166,237,969...166,281,271
Ensembl chr 1:166,238,238...166,280,590 		JBrowse link
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 Ganab glucosidase II alpha subunit ISO ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease | ClinVar Annotator: match by term: Isolated polycystic liver disease ClinVar PMID:25741868 PMID:28492532 PMID:33097077 NCBI chr 1:205,793,910...205,813,704
Ensembl chr 1:205,793,895...205,813,695 		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 Hhex hematopoietically expressed homeobox ISO ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease ClinVar NCBI chr 1:235,190,455...235,196,042
Ensembl chr 1:235,190,455...235,196,042 		JBrowse link
G Hnf1b HNF1 homeobox B ISO ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease ClinVar PMID:15930087 PMID:16249435 PMID:18065799 PMID:19639018 PMID:20633866 More... NCBI chr10:68,735,894...68,789,888
Ensembl chr10:68,735,894...68,789,888 		JBrowse link
G Hnf4a hepatocyte nuclear factor 4, alpha ISO ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease ClinVar PMID:10227563 PMID:21105491 PMID:23227446 PMID:23247789 PMID:24097065 More... NCBI chr 3:152,186,787...152,248,320
Ensembl chr 3:152,186,787...152,248,320 		JBrowse link
G Lrp5 LDL receptor related protein 5 susceptibility IAGP
ISO		 DNA:missense mutation:cds:p.R118W (3562C>T) (human)
ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease | ClinVar Annotator: match by term: Polycystic liver disease 1		 ClinVar
RGD		 PMID:24706814 PMID:25741868 PMID:28492532 PMID:30452590 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 Lrp6 LDL receptor related protein 6 ISO ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease ClinVar PMID:26901136 PMID:28492532 NCBI chr 4:167,269,856...167,400,364
Ensembl chr 4:167,270,353...167,400,497 		JBrowse link
G Nf2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor ISO ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease ClinVar NCBI chr14:79,627,399...79,710,709
Ensembl chr14:79,627,399...79,710,667 		JBrowse link
G Odad3 outer dynein arm docking complex subunit 3 ISO ClinVar Annotator: match by term: Polycystic liver disease 1 ClinVar PMID:25741868 NCBI chr 8:20,520,898...20,534,499
Ensembl chr 8:20,520,898...20,534,499 		JBrowse link
G Onecut1 one cut homeobox 1 ISO ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease ClinVar PMID:25741868 NCBI chr 8:75,599,432...75,633,598
Ensembl chr 8:75,599,740...75,627,277 		JBrowse link
G Onecut2 one cut homeobox 2 ISO ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease ClinVar NCBI chr18:57,831,647...57,890,884
Ensembl chr18:57,832,111...57,879,629 		JBrowse link
G Pkd1 polycystin 1, transient receptor potential channel interacting ISO ClinVar Annotator: match by term: Polycystic liver disease 1 ClinVar PMID:9668165 PMID:17582161 PMID:21744088 PMID:22185115 PMID:25263802 More... 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: Isolated autosomal dominant polycystic liver disease | 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 Annotator: match by term: Polycystic liver disease 1 ClinVar PMID:1189128 PMID:11898128 PMID:11919560 PMID:12506140 PMID:12846734 More... NCBI chr 9:22,547,396...23,037,443
Ensembl chr 9:22,549,513...23,037,381 		JBrowse link
G Prkcsh PRKCSH beta subunit of glucosidase II ISO ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease | ClinVar Annotator: match by term: Polycystic liver disease 1
DNA:splice site mutations, deletions:multiple		 OMIM
ClinVar
RGD		 PMID:11047756 PMID:12529853 PMID:12577059 PMID:16835903 PMID:22415584 More... RGD:14402048 NCBI chr 8:20,534,787...20,546,493
Ensembl chr 8:20,534,880...20,546,492 		JBrowse link
G Ruvbl1 RuvB-like AAA ATPase 1 ISO ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease ClinVar NCBI chr 4:120,932,486...120,967,400
Ensembl chr 4:120,932,417...121,029,384 		JBrowse link
G Sec61a1 SEC61 translocon subunit alpha 1 ISO ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease ClinVar NCBI chr 4:120,973,519...120,987,871
Ensembl chr 4:120,960,626...120,987,925 		JBrowse link
G Sec61a2 SEC61 translocon subunit alpha 2 ISO ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease ClinVar NCBI chr17:72,407,574...72,445,630
Ensembl chr17:72,407,671...72,434,494 		JBrowse link
G Sec63 SEC63 homolog, protein translocation regulator ISO ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease | ClinVar Annotator: match by term: Isolated polycystic liver disease | ClinVar Annotator: match by term: POLYCYSTIC LIVER DISEASE 1 WITH OR WITHOUT KIDNEY CYSTS | ClinVar Annotator: match by term: Polycystic liver disease 1 ClinVar PMID:20095989 PMID:25741868 PMID:28492532 NCBI chr20:46,245,101...46,314,055
Ensembl chr20:46,245,101...46,314,055 		JBrowse link
G Xbp1 X-box binding protein 1 ISO ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease ClinVar PMID:25741868 NCBI chr14:80,390,629...80,395,713
Ensembl chr14:80,390,643...80,395,693 		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 term: POLYCYSTIC LIVER DISEASE 2 WITH OR WITHOUT KIDNEY CYSTS | ClinVar Annotator: match by term: Polycystic liver disease 2
DNA:mutations:multiple		 OMIM
ClinVar
RGD		 PMID:9536098 PMID:15133510 PMID:17576681 PMID:20095989 PMID:24033266 More... RGD:14402049 NCBI chr20:46,245,101...46,314,055
Ensembl chr20:46,245,101...46,314,055 		JBrowse link
polycystic liver disease 3 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 OMIM
ClinVar		 PMID:9536098 PMID:15235028 PMID:16199547 PMID:17576681 PMID:19688606 More... NCBI chr 1:151,684,344...151,704,310
Ensembl chr 1:151,684,396...151,704,302 		JBrowse link
polycystic liver disease 4 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 KIDNEY CYSTS | 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 OMIM
ClinVar		 PMID:9536098 PMID:11719191 PMID:12579474 PMID:15024691 PMID:15077203 More... 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...90,744,333
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 Adgrd2 adhesion G protein-coupled receptor D2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543
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 Akr1c1 aldo-keto reductase family 1, member C1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22381227 NCBI chr17:65,810,474...65,837,385
Ensembl chr17:65,810,475...65,837,326 		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
RGD		 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...8,909,192
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 BCL11 transcription factor A 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
RGD		 PMID:21062263 PMID:21062263 RGD:10054496 NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743
Ensembl chr13:22,684,989...22,853,743 		JBrowse link
G Bloc1s3 biogenesis of lysosomal organelles complex-1, subunit 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 1:79,155,873...79,158,247
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
ClinVar Annotator: match by term: Polycystic ovary syndrome, susceptibility to		 ClinVar
RGD		 PMID:11017071 PMID:11481585 PMID:12161543 PMID:14574648 PMID:14602801 More... 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
Ensembl chr 4:17,354,466...17,513,903 		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 Cimap1b ciliary microtubule associated protein 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 7:120,444,232...120,447,294
Ensembl chr 7:120,444,232...120,446,749 		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
RGD		 PMID:8265607 PMID:9177373 PMID:21262361 PMID:22381227 PMID:21282199 More... RGD:7257710, RGD:7257726, RGD:7257717 NCBI chr 8:54,552,978...54,580,375
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 chr11:42,125,525...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 chr10:80,968,360...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 Gpx3 glutathione peroxidase 3 treatment IEP RGD PMID:35663203 RGD:401827905 NCBI chr10:39,028,624...39,036,695
Ensembl chr10:39,028,570...39,037,035 		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
Ensembl chr16:65,954,350...66,061,338 		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
RGD		 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...141,962,101
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
Ensembl chr 7:131,101,564...131,150,811 		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...40,218,540
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 Mir222 microRNA 222 treatment ISO
IMP		 RNA:increased expression:blood RGD PMID:33230470 PMID:33230470 RGD:151893462, RGD:151893462 NCBI chr  X:3,428,904...3,429,006
Ensembl chr  X:3,428,904...3,429,006 		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 Ncoa2 nuclear receptor coactivator 2 IDA RGD PMID:29535146 RGD:152985548 NCBI chr 5:5,835,642...6,069,693
Ensembl chr 5:5,835,706...6,067,451 		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
Ensembl chr10:105,874,708...105,887,254 		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 Nr3c2 nuclear receptor subfamily 3, group C, member 2 treatment IMP RGD PMID:31925474 RGD:401976287 NCBI chr19:30,715,634...31,059,885
Ensembl chr19:30,715,648...31,059,885 		JBrowse link
G Nrg1 neuregulin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr16:59,250,658...60,304,519
Ensembl chr16:59,250,854...60,296,884 		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 8:6,072,673...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 9:14,218,907...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 5:21,676,017...21,740,035
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...9,174,035
Ensembl chr 7:9,154,061...9,173,454 		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:1,872,582...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 NCBI chr 9:74,298,843...74,300,926 JBrowse link
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 5:147,360,587...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 chr10:41,979,730...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 1:196,382,857...196,383,668
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 chr10:54,373,045...54,374,749
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 5:148,088,759...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
RGD		 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 9:50,445,947...50,733,473
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...202,392,182
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 9:15,456,446...15,464,289
Ensembl chr 9:15,455,801...15,464,302 		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 chr10:83,945,731...83,976,874
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 chr10:12,615,455...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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:15378534 PMID:15591271 PMID:22569110 PMID:25741868 PMID:26220699 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: Cystic leukoencephalopathy without megalencephaly
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:19525954 PMID:25741868 PMID:27943079 PMID:28492532 PMID:28924877 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 PMID:30755392 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 C13h1orf74 similar to human chromosome 1 open reading frame 74 ISO ClinVar Annotator: match by term: Van der Woude syndrome 1 ClinVar PMID:14618417 NCBI chr13:104,692,769...104,695,368
Ensembl chr13:104,692,824...104,695,470 		JBrowse link
G Cacna1e calcium voltage-gated channel subunit alpha1 E ISO ClinVar Annotator: match by term: Van der Woude syndrome 1 ClinVar PMID:17660294 PMID:23934111 PMID:25741868 PMID:28492532 PMID:30343943 NCBI chr13:66,574,659...67,063,443
Ensembl chr13:66,581,920...66,894,450 		JBrowse link
G Grhl3 grainyhead-like transcription factor 3 ISS
ISO		 OMIM:119300 | OMIM:606713
ClinVar Annotator: match by term: Van der Woude syndrome | ClinVar Annotator: match by term: Van der Woude syndrome 1		 MouseDO
ClinVar		 PMID:25741868 PMID:36901693 NCBI chr 5:147,774,161...147,806,291
Ensembl chr 5:147,774,160...147,806,160 		JBrowse link
G Irf6 interferon regulatory factor 6 ISO
ISS		 ClinVar Annotator: match by term: Lip pit syndrome | ClinVar Annotator: match by term: Van der Woude syndrome | ClinVar Annotator: match by term: Van der Woude syndrome 1
OMIM:119300 | OMIM:606713
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:12219090 PMID:12920575 PMID:14618417 PMID:14640121 PMID:14757865 More... NCBI chr13:104,672,179...104,691,386
Ensembl chr13:104,672,179...104,691,386 		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 term: Van der Woude syndrome 2 ClinVar PMID:21574244 PMID:25741868 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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Van der Woude syndrome 2		 OMIM
CTD
ClinVar		 PMID:11781685 PMID:16199547 PMID:20184620 PMID:22590528 PMID:22829784 More... NCBI chr 5:147,774,161...147,806,291
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:25741868 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 19099
    disease of cellular proliferation 7914
      Cysts 300
        Aplasia Cutis Congenita, Congenital Heart Defect, and Frontonasal Cysts 0
        Bone Cysts + 21
        Branchioma 0
        Bronchogenic Cyst 0
        Central Nervous System Cysts + 9
        Cystic Medial Necrosis of Aorta 0
        Ectodermal Dysplasia Adrenal Cyst 0
        Epidermal Cyst + 0
        Esophageal Cyst 0
        Follicular Cyst + 2
        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 + 0
        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 + 6
        breast cyst + 0
        choledochal cyst + 8
        dermoid cyst + 5
        lymphocele + 0
        megalencephalic leukoencephalopathy with subcortical cysts + 5
        meibomian cyst 0
        ovarian cyst + 209
        parovarian cyst 0
        polycystic liver disease + 29
        spermatocele 0
Path 2
Term Annotations click to browse term
  disease 19099
    Pathological Conditions, Signs and Symptoms 13605
      Anatomical Pathological Conditions 2750
        Cysts 300
          Aplasia Cutis Congenita, Congenital Heart Defect, and Frontonasal Cysts 0
          Bone Cysts + 21
          Branchioma 0
          Bronchogenic Cyst 0
          Central Nervous System Cysts + 9
          Cystic Medial Necrosis of Aorta 0
          Ectodermal Dysplasia Adrenal Cyst 0
          Epidermal Cyst + 0
          Esophageal Cyst 0
          Follicular Cyst + 2
          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 + 0
          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 + 6
          breast cyst + 0
          choledochal cyst + 8
          dermoid cyst + 5
          lymphocele + 0
          megalencephalic leukoencephalopathy with subcortical cysts + 5
          meibomian cyst 0
          ovarian cyst + 209
          parovarian cyst 0
          polycystic liver disease + 29
          spermatocele 0
paths to the root