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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 EXP CTD Direct Evidence: marker/mechanism CTD PMID:27072130 NCBI chr17:17,212,212...17,237,330
Ensembl chr17:17,212,212...17,237,188 		JBrowse link
G PKD1 polycystin 1, transient receptor potential channel interacting EXP CTD Direct Evidence: marker/mechanism CTD PMID:21685914 NCBI chr16:2,088,708...2,135,898
Ensembl chr16:2,088,708...2,135,898 		JBrowse link
Caroli disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANGPT2 angiopoietin 2 ISO protein:increased expression:bile duct (rat) RGD PMID:16628643 RGD:2314213 NCBI chr 8:6,499,632...6,563,245
Ensembl chr 8:6,499,632...6,563,409 		JBrowse link
G IFT56 intraflagellar transport 56 IAGP ClinVar Annotator: match by term: Caroli disease ClinVar PMID:25741913 PMID:31595528 PMID:32617964 NCBI chr 7:139,133,778...139,191,986
Ensembl chr 7:139,133,744...139,191,986 		JBrowse link
G LOC126859690 MED14-independent group 3 enhancer GRCh37_chr6:51888848-51890047 IAGP ClinVar Annotator: match by term: Caroli disease ClinVar PMID:1189128 PMID:11898128 PMID:12874454 PMID:15805161 PMID:16133180 More... NCBI chr 6:52,024,050...52,025,249 JBrowse link
G PKHD1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin IAGP ClinVar Annotator: match by term: Caroli disease ClinVar PMID:1189128 PMID:11898128 PMID:12846734 PMID:12874454 PMID:15108277 More... NCBI chr 6:51,615,299...52,087,615
Ensembl chr 6:51,615,299...52,087,613 		JBrowse link
G WDR19 WD repeat domain 19 IAGP associated with Nephronophthisis 13;DNA:missense mutations:cds:multiple (human) RGD PMID:25726036 RGD:11528287 NCBI chr 4:39,182,529...39,285,810
Ensembl chr 4:39,182,504...39,285,810 		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 EXP
IAGP		 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 chr17:8,224,815...8,248,056
Ensembl chr17:8,224,815...8,248,058 		JBrowse link
G STN1 STN1 subunit of CST complex EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr10:103,877,569...103,918,184
Ensembl chr10:103,856,806...103,918,332 		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 IAGP 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 chr17:8,224,815...8,248,056
Ensembl chr17:8,224,815...8,248,058 		JBrowse link
G PFAS phosphoribosylformylglycinamidine synthase IAGP 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 chr17:8,247,608...8,270,486
Ensembl chr17:8,247,618...8,270,491 		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 IAGP ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 2 OMIM
ClinVar		 PMID:25741868 PMID:27432940 PMID:28492532 NCBI chr10:103,877,569...103,918,184
Ensembl chr10:103,856,806...103,918,332 		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 IAGP ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 3 ClinVar
OMIM		 PMID:27013236 PMID:28492532 NCBI chr 7:124,822,386...124,929,825
Ensembl chr 7:124,822,386...124,929,983 		JBrowse link
choledochal cyst term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AQP1 aquaporin 1 (Colton blood group) EXP CTD Direct Evidence: marker/mechanism CTD PMID:18988797 NCBI chr 7:30,911,853...30,925,516
Ensembl chr 7:30,911,853...30,925,517 		JBrowse link
G CFTR CF transmembrane conductance regulator EXP CTD Direct Evidence: marker/mechanism CTD PMID:18988797 NCBI chr 7:117,480,025...117,668,665
Ensembl chr 7:117,287,120...117,715,971 		JBrowse link
G PKHD1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin EXP
ISO		 CTD Direct Evidence: marker/mechanism
DNA:deletion:exon:		 CTD
RGD		 PMID:18988797 PMID:15830394 RGD:14700991 NCBI chr 6:51,615,299...52,087,615
Ensembl chr 6:51,615,299...52,087,613 		JBrowse link
G SCT secretin EXP CTD Direct Evidence: marker/mechanism CTD PMID:18988797 NCBI chr11:626,309...627,181
Ensembl chr11:626,309...627,181 		JBrowse link
G SLC4A2 solute carrier family 4 member 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18988797 NCBI chr 7:151,058,200...151,076,527
Ensembl chr 7:151,057,210...151,076,526 		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 IAGP ClinVar Annotator: match by term: Deafness, bilateral sensorineural, and hydrocephalus due to foramen of monro obstruction
ClinVar Annotator: match by term: Deafness, autosomal recessive 82
ClinVar Annotator: match by term: Chudley-McCullough syndrome
ClinVar Annotator: match by term: Chudley-McCullough syndrome | ClinVar Annotator: match by term: Deafness, autosomal recessive 82		 ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 1:108,929,505...108,963,484
Ensembl chr 1:108,881,885...108,963,527 		JBrowse link
G GPSM2 G protein signaling modulator 2 IAGP
EXP		 DNA:deletion, transversion mutations:cds,splice junction:c.1471delG,c.741delC,c.1661C>A,c.1062+1G>T (human);
ClinVar Annotator: match by term: Chudley-McCullough syndrome | ClinVar Annotator: match by term: Deafness, autosomal recessive 82
ClinVar Annotator: match by term: Chudley-McCullough syndrome | ClinVar Annotator: match by term: Deafness, bilateral sensorineural, and hydrocephalus due to foramen of monro obstruction
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM
RGD		 PMID:10449658 PMID:20602914 PMID:21348867 PMID:22578326 PMID:22987632 More... RGD:11062393 NCBI chr 1:108,876,985...108,934,545
Ensembl chr 1:108,875,350...108,934,545 		JBrowse link
G LOC129931083 ATAC-STARR-seq lymphoblastoid silent region 1138 IAGP ClinVar Annotator: match by term: Chudley-McCullough syndrome ClinVar PMID:25741868
dermoid cyst of ovary term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FOXO3 forkhead box O3 ISS OMIM:166950 MouseDO NCBI chr 6:108,559,825...108,684,774
Ensembl chr 6:108,559,835...108,684,774 		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 EXP CTD Direct Evidence: therapeutic CTD PMID:37277016 NCBI chr 1:119,911,553...120,069,662
Ensembl chr 1:119,911,553...120,100,779 		JBrowse link
G SCARB1 scavenger receptor class B member 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20404351 NCBI chr12:124,776,856...124,863,864
Ensembl chr12:124,776,856...124,882,668 		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 IAGP ClinVar Annotator: match by term: GLOW SYNDROME OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19556464 PMID:21205968 More... NCBI chr14:95,086,228...95,158,010
Ensembl chr14:95,086,228...95,158,010 		JBrowse link
Isolated Caroli Disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC126859690 MED14-independent group 3 enhancer GRCh37_chr6:51888848-51890047 IAGP ClinVar Annotator: match by term: Cystic dilatation of the intrahepatic biliary tree ClinVar PMID:1189128 PMID:11898128 PMID:12874454 PMID:15805161 PMID:16133180 More... NCBI chr 6:52,024,050...52,025,249 JBrowse link
G PKHD1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin IAGP 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 6:51,615,299...52,087,615
Ensembl chr 6:51,615,299...52,087,613 		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 IEP protein:increased expression:cyst, liquid (human) RGD PMID:20646237 RGD:6484123 NCBI chr10:73,909,164...73,917,494
Ensembl chr10:73,909,177...73,917,496 		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 IAGP ClinVar Annotator: match by term: Leukoencephalopathy, brain calcifications, and cysts ClinVar NCBI chr17:8,072,636...8,087,716
Ensembl chr17:8,072,636...8,087,716 		JBrowse link
G LOC130060223 ATAC-STARR-seq lymphoblastoid active region 11672 IAGP ClinVar Annotator: match by term: LABRUNE SYNDROME
ClinVar Annotator: match by term: Leukoencephalopathy, brain calcifications, and cysts		 ClinVar PMID:27571260 NCBI chr17:8,173,605...8,173,784 JBrowse link
G SNORD118 small nucleolar RNA, C/D box 118 IAGP
EXP		 ClinVar Annotator: match by term: Leukoencephalopathy, brain calcifications, and cysts
ClinVar Annotator: match by term: LABRUNE SYNDROME | ClinVar Annotator: match by term: Leukoencephalopathy, brain calcifications, and cysts
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:25741868 PMID:27571260 PMID:28177126 PMID:28492532 PMID:29260032 More... NCBI chr17:8,173,452...8,173,588
Ensembl chr17:8,173,454...8,173,587 		JBrowse link
G TMEM107 transmembrane protein 107 IAGP ClinVar Annotator: match by term: Leukoencephalopathy, brain calcifications, and cysts
ClinVar Annotator: match by term: LABRUNE SYNDROME | ClinVar Annotator: match by term: Leukoencephalopathy, brain calcifications, and cysts		 ClinVar PMID:25741868 PMID:27571260 PMID:28177126 PMID:28492532 PMID:29260032 More... NCBI chr17:8,172,457...8,176,380
Ensembl chr17:8,172,457...8,176,399 		JBrowse link
Meckel syndrome 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC129937586 ATAC-STARR-seq lymphoblastoid silent region 14743 IAGP ClinVar Annotator: match by term: Meckel syndrome type 7
ClinVar Annotator: match by term: Dandy-Walker cyst with renal-hepatic-pancreatic dysplasia		 ClinVar PMID:17855640 PMID:24033266 PMID:25741868 PMID:28492532
G NPHP3 nephrocystin 3 IAGP
EXP		 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:17576681 PMID:17855640 PMID:18371931 More... NCBI chr 3:132,680,609...132,722,409
Ensembl chr 3:132,680,609...132,722,432 		JBrowse link
G NPHP3-ACAD11 NPHP3-ACAD11 readthrough (NMD candidate) IAGP ClinVar Annotator: match by term: Dandy-Walker cyst with renal-hepatic-pancreatic dysplasia
ClinVar Annotator: match by term: Dandy-Walker cyst with renal-hepatic-pancreatic dysplasia | ClinVar Annotator: match by term: Meckel syndrome type 7		 ClinVar PMID:9536098 PMID:12872122 PMID:17576681 PMID:17855640 PMID:18371931 More... NCBI chr 3:132,558,138...132,722,459
Ensembl chr 3:132,558,142...132,722,459 		JBrowse link
G NPHP3-AS1 NPHP3 antisense RNA 1 IAGP ClinVar Annotator: match by term: Meckel syndrome type 7
ClinVar Annotator: match by term: Dandy-Walker cyst with renal-hepatic-pancreatic dysplasia | ClinVar Annotator: match by term: Meckel syndrome type 7		 ClinVar PMID:17855640 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 3:132,721,750...132,874,211
Ensembl chr 3:132,721,750...132,874,223 		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 EXP
IAGP
ISS		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts		 CTD
ClinVar
MouseDO		 PMID:21419380 PMID:25741868 PMID:28492532 NCBI chr11:124,919,205...124,936,047
Ensembl chr11:124,919,205...124,936,412 		JBrowse link
G HEPN1 hepatocellular carcinoma, down-regulated 1 IAGP ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts ClinVar NCBI chr11:124,919,250...124,920,677
Ensembl chr11:124,919,250...124,920,677 		JBrowse link
G LOC125446261 Sharpr-MPRA regulatory region 9327 IAGP ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts ClinVar PMID:11935341 PMID:12939431 PMID:15832614 PMID:16470554 PMID:16652334 More... NCBI chr22:50,083,060...50,083,354 JBrowse link
G MLC1 modulator of VRAC current 1 EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts
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 chr22:50,059,391...50,085,875
Ensembl chr22:50,059,391...50,085,426 		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 IAGP ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts 1 ClinVar PMID:25741868 PMID:28492532 PMID:29389947 PMID:29915382 NCBI chr11:124,919,205...124,936,047
Ensembl chr11:124,919,205...124,936,412 		JBrowse link
G LOC125446261 Sharpr-MPRA regulatory region 9327 IAGP ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts 1 ClinVar PMID:11935341 PMID:12939431 PMID:15832614 PMID:16470554 PMID:16652334 More... NCBI chr22:50,083,060...50,083,354 JBrowse link
G MLC1 modulator of VRAC current 1 IAGP
ISS		 ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts 1
ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts 1 | ClinVar Annotator: match by term: VAN DER KNAAP DISEASE
OMIM:604004		 ClinVar
MouseDO
OMIM		 PMID:9536098 PMID:11254442 PMID:11935341 PMID:12189496 PMID:12497630 More... NCBI chr22:50,059,391...50,085,875
Ensembl chr22:50,059,391...50,085,426 		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 IAGP ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts 2A
ClinVar Annotator: match by term: HEPACAM-related condition | ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts 2A		 ClinVar
OMIM		 PMID:21419380 PMID:25044933 PMID:25741868 PMID:28492532 PMID:31372844 NCBI chr11:124,919,205...124,936,047
Ensembl chr11:124,919,205...124,936,412 		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 IAGP
EXP		 ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability
ClinVar Annotator: match by term: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2B, REMITTING, WITH IMPAIRED INTELLECTUAL DEVELOPMENT
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:20517947 PMID:21419380 PMID:24202401 PMID:25044933 PMID:25741868 More... NCBI chr11:124,919,205...124,936,047
Ensembl chr11:124,919,205...124,936,412 		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 IAGP ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts 3 OMIM
ClinVar		 PMID:37143309 NCBI chr16:19,856,691...19,885,634
Ensembl chr16:19,856,691...19,886,167 		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 IAGP ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts 4, remitting OMIM
ClinVar		 PMID:25741868 PMID:37143309 NCBI chr18:26,852,038...26,865,803
Ensembl chr18:26,852,043...26,865,771 		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 (putative) IAGP ClinVar Annotator: match by term: Gorlin syndrome ClinVar PMID:17703323 PMID:17924555 PMID:22382802 PMID:28492532 NCBI chr 9:94,726,699...95,150,224
Ensembl chr 9:94,726,604...95,151,793 		JBrowse link
G ARL3 ADP ribosylation factor like GTPase 3 IAGP ClinVar Annotator: match by term: Gorlin syndrome ClinVar PMID:12068298 PMID:22508808 PMID:25403219 PMID:28492532 PMID:31639285 NCBI chr10:102,673,731...102,714,397
Ensembl chr10:102,673,731...102,714,397 		JBrowse link
G CYP17A1 cytochrome P450 family 17 subfamily A member 1 IAGP ClinVar Annotator: match by term: Gorlin syndrome ClinVar PMID:12068298 PMID:22508808 PMID:25403219 PMID:28492532 PMID:31639285 NCBI chr10:102,830,531...102,837,413
Ensembl chr10:102,830,531...102,837,472 		JBrowse link
G FANCC FA complementation group C IAGP ClinVar Annotator: match by term: Gorlin syndrome ClinVar PMID:17703323 PMID:17924555 PMID:22382802 PMID:28492532 NCBI chr 9:95,099,054...95,317,709
Ensembl chr 9:95,099,054...95,426,796 		JBrowse link
G GLI1 GLI family zinc finger 1 IEP RGD PMID:15308259 RGD:12801443 NCBI chr12:57,459,785...57,472,268
Ensembl chr12:57,459,785...57,472,268 		JBrowse link
G GLI2 GLI family zinc finger 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16936257 NCBI chr 2:120,735,868...120,992,653
Ensembl chr 2:120,735,623...120,992,653 		JBrowse link
G LOC100507346 uncharacterized LOC100507346 IAGP ClinVar Annotator: match by term: Gorlin syndrome
ClinVar Annotator: match by term: Basal cell nevus syndrome | ClinVar Annotator: match by term: Gorlin syndrome
ClinVar Annotator: match by term: Basal cell nevus syndrome | ClinVar Annotator: match by term: Fifth Phacomatosis | ClinVar Annotator: match by term: Gorlin syndrome		 ClinVar PMID:1850296 PMID:8658145 PMID:8681379 PMID:8981943 PMID:9536098 More... NCBI chr 9:95,463,609...95,470,019 JBrowse link
G LOC105376156 uncharacterized LOC105376156 IAGP ClinVar Annotator: match by term: Gorlin syndrome ClinVar PMID:17703323 PMID:17924555 PMID:22382802 PMID:28492532 NCBI chr 9:95,386,495...95,426,830
Ensembl chr 9:95,099,054...95,426,796 		JBrowse link
G LOC110121043 VISTA enhancer hs1258 IAGP ClinVar Annotator: match by term: Gorlin syndrome ClinVar PMID:16301862 PMID:16419085 PMID:17703323 PMID:17924555 PMID:19557015 More... NCBI chr 9:95,495,577...95,497,123 JBrowse link
G LOC124310595 Sharpr-MPRA regulatory region 10736 IAGP ClinVar Annotator: match by term: Gorlin syndrome ClinVar PMID:17703323 PMID:17924555 PMID:22382802 PMID:28492532 NCBI chr 9:95,129,927...95,130,221 JBrowse link
G LOC124310596 Sharpr-MPRA regulatory region 8238 IAGP ClinVar Annotator: match by term: Gorlin syndrome ClinVar PMID:17703323 PMID:17924555 PMID:22382802 PMID:28492532 NCBI chr 9:95,131,367...95,131,661 JBrowse link
G LOC124310597 Sharpr-MPRA regulatory region 1665 IAGP ClinVar Annotator: match by term: Gorlin syndrome ClinVar PMID:17703323 PMID:17924555 PMID:22382802 PMID:28492532 NCBI chr 9:95,193,107...95,193,401 JBrowse link
G LOC124310598 Sharpr-MPRA regulatory region 1693 IAGP ClinVar Annotator: match by term: Gorlin syndrome ClinVar PMID:17703323 PMID:17924555 PMID:22382802 PMID:28492532 NCBI chr 9:95,268,727...95,269,021 JBrowse link
G LOC124310599 Sharpr-MPRA regulatory region 1060 IAGP ClinVar Annotator: match by term: Gorlin syndrome ClinVar PMID:17703323 PMID:17924555 PMID:22382802 PMID:28492532 NCBI chr 9:95,366,807...95,367,101 JBrowse link
G LOC124310600 H3K4me1 hESC enhancer GRCh37_chr9:98173918-98174537 IAGP ClinVar Annotator: match by term: Gorlin syndrome ClinVar PMID:17703323 PMID:17924555 PMID:22382802 PMID:28492532 NCBI chr 9:95,411,636...95,412,255 JBrowse link
G LOC124416895 Sharpr-MPRA regulatory region 236 IAGP ClinVar Annotator: match by term: Gorlin syndrome ClinVar PMID:22508808 PMID:25403219 PMID:28492532 NCBI chr10:102,504,572...102,504,866 JBrowse link
G LOC130002126 ATAC-STARR-seq lymphoblastoid silent region 20063 IAGP ClinVar Annotator: match by term: Gorlin syndrome ClinVar PMID:17703323 PMID:17924555 PMID:22382802 PMID:28492532 NCBI chr 9:95,116,447...95,116,526 JBrowse link
G LOC130002127 ATAC-STARR-seq lymphoblastoid active region 28637 IAGP ClinVar Annotator: match by term: Gorlin syndrome ClinVar PMID:17703323 PMID:17924555 PMID:22382802 PMID:28492532 NCBI chr 9:95,313,167...95,313,226 JBrowse link
G LOC130002128 ATAC-STARR-seq lymphoblastoid silent region 20064 IAGP ClinVar Annotator: match by term: Gorlin syndrome ClinVar PMID:17703323 PMID:17924555 PMID:22382802 PMID:28492532 NCBI chr 9:95,317,061...95,317,380 JBrowse link
G LOC130002129 ATAC-STARR-seq lymphoblastoid silent region 20065 IAGP ClinVar Annotator: match by term: Gorlin syndrome ClinVar PMID:17703323 PMID:17924555 PMID:22382802 PMID:28492532 NCBI chr 9:95,426,698...95,427,087 JBrowse link
G LOC130002130 ATAC-STARR-seq lymphoblastoid silent region 20067 IAGP ClinVar Annotator: match by term: Gorlin syndrome ClinVar PMID:16301862 PMID:16419085 PMID:17703323 PMID:17924555 PMID:19557015 More... NCBI chr 9:95,505,892...95,505,951 JBrowse link
G LOC130002131 ATAC-STARR-seq lymphoblastoid silent region 20068 IAGP ClinVar Annotator: match by term: Gorlin syndrome ClinVar PMID:16301862 PMID:16419085 PMID:17703323 PMID:17924555 PMID:19557015 More... NCBI chr 9:95,506,112...95,506,171 JBrowse link
G LOC130002132 ATAC-STARR-seq lymphoblastoid silent region 20069 IAGP ClinVar Annotator: match by term: Gorlin syndrome ClinVar PMID:9536098 PMID:16301862 PMID:16419085 PMID:17576681 PMID:17703323 More... NCBI chr 9:95,506,602...95,506,841 JBrowse link
G LOC130002133 ATAC-STARR-seq lymphoblastoid silent region 20071 IAGP ClinVar Annotator: match by term: Gorlin syndrome
ClinVar Annotator: match by term: Basal cell nevus syndrome | ClinVar Annotator: match by term: Gorlin syndrome
ClinVar Annotator: match by term: Fifth Phacomatosis		 ClinVar PMID:16301862 PMID:16419085 PMID:17703323 PMID:17924555 PMID:19557015 More... NCBI chr 9:95,508,202...95,508,521 JBrowse link
G LOC130004614 ATAC-STARR-seq lymphoblastoid silent region 2764 IAGP ClinVar Annotator: match by term: Gorlin syndrome
ClinVar Annotator: match by term: Basal cell nevus syndrome | ClinVar Annotator: match by term: Gorlin syndrome		 ClinVar PMID:19833601 PMID:22508808 PMID:24651015 PMID:25403219 PMID:25741868 More... NCBI chr10:102,503,788...102,504,257 JBrowse link
G LOC130004615 ATAC-STARR-seq lymphoblastoid active region 3939 IAGP ClinVar Annotator: match by term: Gorlin syndrome ClinVar PMID:22508808 PMID:25403219 PMID:28492532 NCBI chr10:102,512,167...102,512,306 JBrowse link
G LOC130004616 ATAC-STARR-seq lymphoblastoid active region 3940 IAGP ClinVar Annotator: match by term: Gorlin syndrome ClinVar PMID:22508808 PMID:25403219 PMID:28492532 NCBI chr10:102,537,177...102,537,336 JBrowse link
G LOC132089731 Neanderthal introgressed variant-containing enhancer experimental_110513 IAGP ClinVar Annotator: match by term: Gorlin syndrome ClinVar PMID:17703323 PMID:17924555 PMID:22382802 PMID:28492532 NCBI chr 9:95,178,246...95,178,415 JBrowse link
G LOC132089732 Neanderthal introgressed variant-containing enhancer experimental_110548 IAGP ClinVar Annotator: match by term: Gorlin syndrome ClinVar PMID:17703323 PMID:17924555 PMID:22382802 PMID:28492532 NCBI chr 9:95,241,261...95,241,430 JBrowse link
G LOC132089733 Neanderthal introgressed variant-containing enhancer experimental_110630 IAGP ClinVar Annotator: match by term: Gorlin syndrome ClinVar PMID:17703323 PMID:17924555 PMID:22382802 PMID:28492532 NCBI chr 9:95,410,157...95,410,326 JBrowse link
G PTCH1 patched 1 IAGP
ISS
EXP
ISO
IEP		 DNA:mutations:exon, intron:multiple
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: Multiple Basal Cell Nevi, Odontogenic Keratocysts, And Skeletal Anomalies
ClinVar Annotator: match by term: Basal cell nevus syndrome | ClinVar Annotator: match by term: Gorlin syndrome
ClinVar Annotator: match by term: Gorlin-Goltz Syndrome
CTD Direct Evidence: marker/mechanism
DNA: splice-site mutation :exon
DNA: nonsense mutation:exon:p.W399* (human)
DNA:missense mutation:exon:p.E237EK (897G>A) (human)		 ClinVar
MouseDO
CTD
RGD		 PMID:1347096 PMID:1850296 PMID:8302318 PMID:8658145 PMID:8681379 More... RGD:12798568, RGD:13207424, RGD:13207421, RGD:12801443, RGD:12801422 NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057 		JBrowse link
G PTCH2 patched 2 IAGP ClinVar Annotator: match by term: Gorlin syndrome
ClinVar Annotator: match by term: Basal cell nevus syndrome | ClinVar Annotator: match by term: Fifth Phacomatosis | ClinVar Annotator: match by term: Gorlin syndrome		 ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:18285427 PMID:23951062 More... NCBI chr 1:44,819,845...44,843,253
Ensembl chr 1:44,819,844...44,843,253 		JBrowse link
G PTH parathyroid hormone EXP CTD Direct Evidence: marker/mechanism CTD PMID:24803734 NCBI chr11:13,492,054...13,496,181
Ensembl chr11:13,492,054...13,496,181 		JBrowse link
G SFXN2 sideroflexin 2 IAGP ClinVar Annotator: match by term: Gorlin syndrome ClinVar PMID:12068298 PMID:22508808 PMID:25403219 PMID:28492532 PMID:31639285 NCBI chr10:102,714,636...102,743,492
Ensembl chr10:102,714,538...102,743,492 		JBrowse link
G SHH sonic hedgehog signaling molecule ISO RGD PMID:9115210 RGD:12802345 NCBI chr 7:155,799,980...155,812,463
Ensembl chr 7:155,799,980...155,812,463 		JBrowse link
G SMO smoothened, frizzled class receptor IEP RGD PMID:15308259 RGD:12801443 NCBI chr 7:129,188,633...129,213,545
Ensembl chr 7:129,188,633...129,213,545 		JBrowse link
G SUFU SUFU negative regulator of hedgehog signaling IAGP
ISS		 ClinVar Annotator: match by term: Gorlin syndrome
ClinVar Annotator: match by term: Basal cell nevus syndrome | ClinVar Annotator: match by term: Gorlin syndrome
ClinVar Annotator: match by term: Basal cell nevus syndrome | ClinVar Annotator: match by term: Fifth Phacomatosis | ClinVar Annotator: match by term: Gorlin syndrome
OMIM:109400		 ClinVar
MouseDO		 PMID:9536098 PMID:12068298 PMID:16199547 PMID:17102621 PMID:17576681 More... NCBI chr10:102,502,819...102,633,535
Ensembl chr10:102,503,972...102,633,535 		JBrowse link
G TRIM8 tripartite motif containing 8 IAGP ClinVar Annotator: match by term: Gorlin syndrome ClinVar PMID:12068298 PMID:22508808 PMID:25403219 PMID:28492532 PMID:31639285 NCBI chr10:102,644,479...102,658,319
Ensembl chr10:102,642,503...102,658,318 		JBrowse link
G WBP1L WW domain binding protein 1 like IAGP ClinVar Annotator: match by term: Gorlin syndrome ClinVar PMID:12068298 PMID:22508808 PMID:25403219 PMID:28492532 PMID:31639285 NCBI chr10:102,743,948...102,816,262
Ensembl chr10:102,743,948...102,834,516 		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 IAGP ClinVar Annotator: match by term: Basal cell nevus syndrome 1 OMIM
ClinVar		 PMID:20301330 PMID:25741868 NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057 		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 LOC130004614 ATAC-STARR-seq lymphoblastoid silent region 2764 IAGP ClinVar Annotator: match by term: Basal cell nevus syndrome 2 ClinVar PMID:19833601 PMID:22508808 PMID:25403219 PMID:28492532 PMID:29186568 More... NCBI chr10:102,503,788...102,504,257 JBrowse link
G SUFU SUFU negative regulator of hedgehog signaling IAGP ClinVar Annotator: match by term: NEVOID BASAL CELL CARCINOMA SYNDROME 2
ClinVar Annotator: match by term: Basal cell nevus syndrome 2		 ClinVar
OMIM		 PMID:12068298 PMID:19533801 PMID:19833601 PMID:21188540 PMID:22508808 More... NCBI chr10:102,502,819...102,633,535
Ensembl chr10:102,503,972...102,633,535 		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 IAGP ClinVar Annotator: match by term: Toriello-Lacassie-Droste syndrome ClinVar PMID:26820066 NCBI chr16:3,495,427...3,539,048
Ensembl chr16:3,500,976...3,539,048 		JBrowse link
G KRAS KRAS proto-oncogene, GTPase IAGP ClinVar Annotator: match by term: OCULOECTODERMAL SYNDROME, SOMATIC
ClinVar Annotator: match by term: Aplasia cutis congenita with epibulbar dermoids
ClinVar Annotator: match by term: Toriello-Lacassie-Droste syndrome		 OMIM
ClinVar		 PMID:2278970 PMID:2547513 PMID:3122217 PMID:3627975 PMID:8456858 More... NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936 		JBrowse link
G NLRP5 NLR family pyrin domain containing 5 IAGP ClinVar Annotator: match by term: Toriello-Lacassie-Droste syndrome ClinVar PMID:20738330 PMID:26323243 NCBI chr19:55,999,726...56,061,810
Ensembl chr19:55,999,726...56,061,810 		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 chr18:51,030,213...51,085,042
Ensembl chr18:51,028,528...51,085,045 		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 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21239663 NCBI chr  X:116,170,744...116,174,974
Ensembl chr  X:116,170,744...116,174,974 		JBrowse link
G AMELY amelogenin Y-linked EXP CTD Direct Evidence: marker/mechanism CTD PMID:21239663 NCBI chr  Y:6,865,918...6,911,752
Ensembl chr  Y:6,865,918...6,911,752 		JBrowse link
G ANG angiogenin EXP CTD Direct Evidence: marker/mechanism CTD PMID:21239663 NCBI chr14:20,684,177...20,694,186
Ensembl chr14:20,684,177...20,698,971 		JBrowse link
G ATP6V0D2 ATPase H+ transporting V0 subunit d2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21239663 NCBI chr 8:86,098,910...86,154,225
Ensembl chr 8:85,987,323...86,154,225 		JBrowse link
G C1QB complement C1q B chain EXP CTD Direct Evidence: marker/mechanism CTD PMID:21239663 NCBI chr 1:22,653,236...22,661,637
Ensembl chr 1:22,652,762...22,661,637 		JBrowse link
G CACNB3 calcium voltage-gated channel auxiliary subunit beta 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21239663 NCBI chr12:48,814,480...48,828,941
Ensembl chr12:48,813,794...48,828,941 		JBrowse link
G CDH3 cadherin 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21239663 NCBI chr16:68,645,310...68,733,771
Ensembl chr16:68,636,189...68,727,468 		JBrowse link
G CFD complement factor D EXP CTD Direct Evidence: marker/mechanism CTD PMID:21239663 NCBI chr19:859,664...863,641
Ensembl chr19:859,453...867,884 		JBrowse link
G COL11A1 collagen type XI alpha 1 chain EXP CTD Direct Evidence: marker/mechanism CTD PMID:21239663 NCBI chr 1:102,876,473...103,108,522
Ensembl chr 1:102,876,467...103,108,872 		JBrowse link
G CYP17A1 cytochrome P450 family 17 subfamily A member 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18645707 NCBI chr10:102,830,531...102,837,413
Ensembl chr10:102,830,531...102,837,472 		JBrowse link
G FGD2 FYVE, RhoGEF and PH domain containing 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21239663 NCBI chr 6:37,005,655...37,029,069
Ensembl chr 6:37,005,646...37,029,069 		JBrowse link
G GABRA1 gamma-aminobutyric acid type A receptor subunit alpha1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21239663 NCBI chr 5:161,847,191...161,899,971
Ensembl chr 5:161,847,063...161,899,981 		JBrowse link
G GKN1 gastrokine 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21239663 NCBI chr 2:68,974,636...68,980,976
Ensembl chr 2:68,974,573...68,980,980 		JBrowse link
G GPR34 G protein-coupled receptor 34 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21239663 NCBI chr  X:41,688,973...41,697,275
Ensembl chr  X:41,688,973...41,697,275 		JBrowse link
G IARS2 isoleucyl-tRNA synthetase 2, mitochondrial EXP CTD Direct Evidence: marker/mechanism CTD PMID:21239663 NCBI chr 1:220,094,132...220,148,041
Ensembl chr 1:220,094,132...220,148,041 		JBrowse link
G IHH Indian hedgehog signaling molecule EXP CTD Direct Evidence: marker/mechanism CTD PMID:21239663 NCBI chr 2:219,054,424...219,060,921
Ensembl chr 2:219,054,424...219,060,921 		JBrowse link
G MADCAM1 mucosal vascular addressin cell adhesion molecule 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21239663 NCBI chr19:496,486...505,343
Ensembl chr19:489,176...505,343 		JBrowse link
G MAGOHB mago homolog B, exon junction complex subunit EXP CTD Direct Evidence: marker/mechanism CTD PMID:21239663 NCBI chr12:10,599,524...10,613,609
Ensembl chr12:10,604,193...10,613,609 		JBrowse link
G MFAP2 microfibril associated protein 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21239663 NCBI chr 1:16,974,502...16,981,583
Ensembl chr 1:16,974,502...16,980,632 		JBrowse link
G MS4A1 membrane spanning 4-domains A1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21239663 NCBI chr11:60,455,847...60,470,752
Ensembl chr11:60,455,846...60,470,752 		JBrowse link
G MSH2 mutS homolog 2 IAGP ClinVar Annotator: match by term: Ovarian cyst ClinVar PMID:8872463 PMID:10564582 PMID:15849733 PMID:15955785 PMID:16216036 More... NCBI chr 2:47,403,067...47,709,830
Ensembl chr 2:47,403,067...47,663,146 		JBrowse link
G NFKB1 nuclear factor kappa B subunit 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21239663 NCBI chr 4:102,501,359...102,617,302
Ensembl chr 4:102,501,330...102,617,302 		JBrowse link
G NMT2 N-myristoyltransferase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21239663 NCBI chr10:15,105,700...15,168,693
Ensembl chr10:15,102,584...15,168,693 		JBrowse link
G NR2F1 nuclear receptor subfamily 2 group F member 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21239663 NCBI chr 5:93,583,222...93,594,611
Ensembl chr 5:93,583,222...93,594,611 		JBrowse link
G NXPH2 neurexophilin 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21239663 NCBI chr 2:138,669,157...138,780,390
Ensembl chr 2:138,669,157...138,780,390 		JBrowse link
G PEX14 peroxisomal biogenesis factor 14 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21239663 NCBI chr 1:10,474,950...10,630,758
Ensembl chr 1:10,472,288...10,630,758 		JBrowse link
G PRKN parkin RBR E3 ubiquitin protein ligase EXP CTD Direct Evidence: marker/mechanism CTD PMID:21239663 NCBI chr 6:161,347,417...162,727,766
Ensembl chr 6:161,347,417...162,727,775 		JBrowse link
G PTGER4 prostaglandin E receptor 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21239663 NCBI chr 5:40,679,915...40,746,800
Ensembl chr 5:40,679,915...40,693,735 		JBrowse link
G PTGS1 prostaglandin-endoperoxide synthase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21239663 NCBI chr 9:122,370,533...122,395,703
Ensembl chr 9:122,370,530...122,395,703 		JBrowse link
G RPL5 ribosomal protein L5 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21239663 NCBI chr 1:92,831,986...92,841,924
Ensembl chr 1:92,832,013...92,841,924 		JBrowse link
G SFRP4 secreted frizzled related protein 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21239663 NCBI chr 7:37,905,932...37,916,817
Ensembl chr 7:37,905,932...38,025,695 		JBrowse link
G SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 susceptibility ISO RGD PMID:29684361 RGD:155804292 NCBI chr22:23,786,966...23,838,009
Ensembl chr22:23,786,931...23,838,009 		JBrowse link
G TIMD4 T cell immunoglobulin and mucin domain containing 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21239663 NCBI chr 5:156,919,292...156,963,226
Ensembl chr 5:156,919,292...156,963,226 		JBrowse link
G TMBIM4 transmembrane BAX inhibitor motif containing 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21239663 NCBI chr12:66,135,846...66,169,996
Ensembl chr12:66,135,846...66,170,027 		JBrowse link
G TMEM59L transmembrane protein 59 like EXP CTD Direct Evidence: marker/mechanism CTD PMID:21239663 NCBI chr19:18,612,870...18,621,039
Ensembl chr19:18,607,430...18,621,039 		JBrowse link
G TMOD1 tropomodulin 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21239663 NCBI chr 9:97,501,180...97,601,743
Ensembl chr 9:97,501,180...97,601,743 		JBrowse link
G UOX urate oxidase (pseudogene) EXP CTD Direct Evidence: marker/mechanism CTD PMID:21239663 NCBI chr 1:84,364,958...84,384,801
Ensembl chr 1:84,365,428...84,397,831 		JBrowse link
G VHL von Hippel-Lindau tumor suppressor susceptibility ISO RGD PMID:29684361 RGD:155804292 NCBI chr 3:10,141,778...10,153,667
Ensembl chr 3:10,141,778...10,153,667 		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 IEP RGD PMID:21266527 RGD:7794719 NCBI chr 2:112,829,751...112,836,779
Ensembl chr 2:112,829,751...112,836,816 		JBrowse link
G PKD1 polycystin 1, transient receptor potential channel interacting IAGP ClinVar Annotator: match by term: Pancreatic cysts ClinVar PMID:25741868 NCBI chr16:2,088,708...2,135,898
Ensembl chr16:2,088,708...2,135,898 		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 6:51,615,299...52,087,615
Ensembl chr 6:51,615,299...52,087,613 		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 IEP mRNA:increased expression:gingiva: RGD PMID:16101967 RGD:8661719 NCBI chr17:34,255,285...34,257,203
Ensembl chr17:34,255,274...34,257,208 		JBrowse link
G CCR2 C-C motif chemokine receptor 2 IEP mRNA:increased expression:gingiva: RGD PMID:16101967 RGD:8661719 NCBI chr 3:46,354,111...46,360,940
Ensembl chr 3:46,353,864...46,360,940 		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 chr11:69,771,022...69,775,341
Ensembl chr11:69,771,022...69,775,341 		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 IAGP ClinVar Annotator: match by term: Congenital cystic disease of liver ClinVar PMID:19688606 PMID:19862844 PMID:25741868 PMID:26066342 PMID:28106320 More... NCBI chr11:78,100,946...78,139,626
Ensembl chr11:78,095,244...78,139,660 		JBrowse link
G ALG9 ALG9 alpha-1,2-mannosyltransferase IAGP ClinVar Annotator: match by term: Congenital cystic disease of liver ClinVar PMID:25741868 PMID:26467025 PMID:27391121 PMID:28492532 PMID:31395617 NCBI chr11:111,768,025...111,871,581
Ensembl chr11:111,782,195...111,871,581 		JBrowse link
G CDC25A cell division cycle 25A treatment ISO
IAGP		 ClinVar Annotator: match by term: Congenital cystic disease of liver ClinVar
RGD		 PMID:22155366 RGD:14700990 NCBI chr 3:48,157,146...48,188,417
Ensembl chr 3:48,157,146...48,188,417 		JBrowse link
G CTNNB1 catenin beta 1 IAGP ClinVar Annotator: match by term: Congenital cystic disease of liver ClinVar PMID:28492532 NCBI chr 3:41,199,505...41,240,443
Ensembl chr 3:41,194,741...41,260,096 		JBrowse link
G DKK3 dickkopf WNT signaling pathway inhibitor 3 IAGP ClinVar Annotator: match by term: Congenital cystic disease of liver ClinVar NCBI chr11:11,963,036...12,009,745
Ensembl chr11:11,956,207...12,009,769 		JBrowse link
G GANAB glucosidase II alpha subunit IAGP 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 chr11:62,624,829...62,646,613
Ensembl chr11:62,624,826...62,646,726 		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 2:218,259,496...218,263,861
Ensembl chr 2:218,259,496...218,263,861 		JBrowse link
G HHEX hematopoietically expressed homeobox IAGP ClinVar Annotator: match by term: Congenital cystic disease of liver ClinVar NCBI chr10:92,689,955...92,695,647
Ensembl chr10:92,689,955...92,695,647 		JBrowse link
G HNF1B HNF1 homeobox B IAGP ClinVar Annotator: match by term: Congenital cystic disease of liver ClinVar PMID:15930087 PMID:16249435 PMID:18065799 PMID:19639018 PMID:20633866 More... NCBI chr17:37,686,431...37,745,059
Ensembl chr17:37,686,431...37,745,059 		JBrowse link
G HNF4A hepatocyte nuclear factor 4 alpha IAGP ClinVar Annotator: match by term: Congenital cystic disease of liver ClinVar PMID:10227563 PMID:21105491 PMID:23227446 PMID:23247789 PMID:24097065 More... NCBI chr20:44,355,699...44,434,596
Ensembl chr20:44,355,699...44,432,845 		JBrowse link
G LOC126806659 BRD4-independent group 4 enhancer GRCh37_chr3:41274918-41276117 IAGP ClinVar Annotator: match by term: Congenital cystic disease of liver ClinVar PMID:28492532 NCBI chr 3:41,233,427...41,234,626 JBrowse link
G LOC126859690 MED14-independent group 3 enhancer GRCh37_chr6:51888848-51890047 IAGP ClinVar Annotator: match by term: Congenital cystic disease of liver ClinVar PMID:1189128 PMID:11898128 PMID:12874454 PMID:15805161 PMID:16133180 More... NCBI chr 6:52,024,050...52,025,249 JBrowse link
G LOC126862549 BRD4-independent group 4 enhancer GRCh37_chr17:36093401-36094600 IAGP ClinVar Annotator: match by term: Congenital cystic disease of liver ClinVar PMID:25741868 NCBI chr17:37,733,408...37,734,611 JBrowse link
G LOC130004359 ATAC-STARR-seq lymphoblastoid silent region 2621 IAGP ClinVar Annotator: match by term: Congenital cystic disease of liver ClinVar NCBI chr10:92,689,756...92,690,075 JBrowse link
G LOC130005346 ATAC-STARR-seq lymphoblastoid silent region 3160 IAGP ClinVar Annotator: match by term: Congenital cystic disease of liver ClinVar NCBI chr11:11,966,973...11,967,022 JBrowse link
G LOC130063575 ATAC-STARR-seq lymphoblastoid active region 14018 IAGP ClinVar Annotator: match by term: Congenital cystic disease of liver ClinVar NCBI chr19:11,435,973...11,436,192 JBrowse link
G LOC130067168 ATAC-STARR-seq lymphoblastoid silent region 13581 IAGP ClinVar Annotator: match by term: Congenital cystic disease of liver ClinVar NCBI chr22:28,800,115...28,800,694 JBrowse link
G LRP5 LDL receptor related protein 5 IAGP ClinVar Annotator: match by term: Congenital cystic disease of liver ClinVar PMID:25741868 PMID:28492532 PMID:30452590 NCBI chr11:68,298,412...68,449,275
Ensembl chr11:68,312,591...68,449,275 		JBrowse link
G LRP6 LDL receptor related protein 6 IAGP ClinVar Annotator: match by term: Congenital cystic disease of liver ClinVar PMID:26901136 PMID:28492532 NCBI chr12:12,116,025...12,267,044
Ensembl chr12:12,116,025...12,267,044 		JBrowse link
G NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor IAGP ClinVar Annotator: match by term: Congenital cystic disease of liver ClinVar NCBI chr22:29,603,556...29,698,600
Ensembl chr22:29,603,556...29,698,598 		JBrowse link
G ONECUT1 one cut homeobox 1 IAGP ClinVar Annotator: match by term: Congenital cystic disease of liver ClinVar NCBI chr15:52,755,053...52,790,336
Ensembl chr15:52,755,053...52,791,078 		JBrowse link
G ONECUT2 one cut homeobox 2 IAGP ClinVar Annotator: match by term: Congenital cystic disease of liver ClinVar NCBI chr18:57,435,374...57,491,298
Ensembl chr18:57,435,374...57,491,298 		JBrowse link
G PKD1 polycystin 1, transient receptor potential channel interacting severity ISO RGD PMID:21685914 PMID:9988265 RGD:14402033, RGD:14402035 NCBI chr16:2,088,708...2,135,898
Ensembl chr16:2,088,708...2,135,898 		JBrowse link
G PKD2 polycystin 2, transient receptor potential cation channel IAGP ClinVar Annotator: match by term: Congenital cystic disease of liver ClinVar NCBI chr 4:88,007,635...88,077,777
Ensembl chr 4:88,007,635...88,077,777 		JBrowse link
G PKHD1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin ISO
IAGP		 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 6:51,615,299...52,087,615
Ensembl chr 6:51,615,299...52,087,613 		JBrowse link
G PRKCSH PRKCSH beta subunit of glucosidase II EXP
IAGP
ISS		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital cystic disease of liver
OMIM:174050		 CTD
ClinVar
MouseDO		 PMID:21685914 PMID:24719335 PMID:25741868 PMID:28492532 NCBI chr19:11,435,635...11,450,968
Ensembl chr19:11,435,284...11,450,968 		JBrowse link
G RUVBL1 RuvB like AAA ATPase 1 IAGP ClinVar Annotator: match by term: Congenital cystic disease of liver ClinVar NCBI chr 3:128,064,785...128,153,914
Ensembl chr 3:128,064,778...128,153,914 		JBrowse link
G SEC61A1 SEC61 translocon subunit alpha 1 IAGP ClinVar Annotator: match by term: Congenital cystic disease of liver ClinVar NCBI chr 3:128,051,641...128,071,683
Ensembl chr 3:128,051,641...128,071,705 		JBrowse link
G SEC61A2 SEC61 translocon subunit alpha 2 IAGP ClinVar Annotator: match by term: Congenital cystic disease of liver ClinVar NCBI chr10:12,129,641...12,169,958
Ensembl chr10:12,129,637...12,169,961 		JBrowse link
G SEC63 SEC63 homolog, protein translocation regulator EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital cystic disease of liver		 CTD
ClinVar		 PMID:20095989 PMID:21685914 PMID:25741868 NCBI chr 6:107,867,756...107,958,208
Ensembl chr 6:107,867,756...107,958,208 		JBrowse link
G UCP2 uncoupling protein 2 ISS OMIM:174050 MouseDO NCBI chr11:73,974,672...73,983,202
Ensembl chr11:73,974,672...73,982,843 		JBrowse link
G XBP1 X-box binding protein 1 IAGP ClinVar Annotator: match by term: Congenital cystic disease of liver ClinVar NCBI chr22:28,794,560...28,800,569
Ensembl chr22:28,794,555...28,800,597 		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 IAGP ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease ClinVar PMID:19688606 PMID:19862844 PMID:25741868 PMID:26066342 PMID:28106320 More... NCBI chr11:78,100,946...78,139,626
Ensembl chr11:78,095,244...78,139,660 		JBrowse link
G ALG9 ALG9 alpha-1,2-mannosyltransferase IAGP ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease ClinVar PMID:25741868 PMID:26467025 PMID:27391121 PMID:28492532 PMID:31395617 NCBI chr11:111,768,025...111,871,581
Ensembl chr11:111,782,195...111,871,581 		JBrowse link
G CDC25A cell division cycle 25A IAGP ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease | ClinVar Annotator: match by term: Isolated polycystic liver disease ClinVar NCBI chr 3:48,157,146...48,188,417
Ensembl chr 3:48,157,146...48,188,417 		JBrowse link
G CTNNB1 catenin beta 1 IAGP ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease ClinVar PMID:28492532 NCBI chr 3:41,199,505...41,240,443
Ensembl chr 3:41,194,741...41,260,096 		JBrowse link
G DKK3 dickkopf WNT signaling pathway inhibitor 3 IAGP ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease ClinVar NCBI chr11:11,963,036...12,009,745
Ensembl chr11:11,956,207...12,009,769 		JBrowse link
G FBN1 fibrillin 1 IAGP ClinVar Annotator: match by term: Polycystic liver disease 1 ClinVar NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721 		JBrowse link
G GANAB glucosidase II alpha subunit IAGP ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease
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 chr11:62,624,829...62,646,613
Ensembl chr11:62,624,826...62,646,726 		JBrowse link
G HDAC6 histone deacetylase 6 treatment ISO
IEP		 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:48,801,398...48,824,982
Ensembl chr  X:48,801,377...48,824,982 		JBrowse link
G HHEX hematopoietically expressed homeobox IAGP ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease ClinVar NCBI chr10:92,689,955...92,695,647
Ensembl chr10:92,689,955...92,695,647 		JBrowse link
G HNF1B HNF1 homeobox B IAGP ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease ClinVar PMID:15930087 PMID:16249435 PMID:18065799 PMID:19639018 PMID:20633866 More... NCBI chr17:37,686,431...37,745,059
Ensembl chr17:37,686,431...37,745,059 		JBrowse link
G HNF4A hepatocyte nuclear factor 4 alpha IAGP ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease ClinVar PMID:10227563 PMID:21105491 PMID:23227446 PMID:23247789 PMID:24097065 More... NCBI chr20:44,355,699...44,434,596
Ensembl chr20:44,355,699...44,432,845 		JBrowse link
G LOC126806659 BRD4-independent group 4 enhancer GRCh37_chr3:41274918-41276117 IAGP ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease ClinVar PMID:28492532 NCBI chr 3:41,233,427...41,234,626 JBrowse link
G LOC126859690 MED14-independent group 3 enhancer GRCh37_chr6:51888848-51890047 IAGP ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease ClinVar PMID:1189128 PMID:11898128 PMID:12874454 PMID:15805161 PMID:16133180 More... NCBI chr 6:52,024,050...52,025,249 JBrowse link
G LOC126862549 BRD4-independent group 4 enhancer GRCh37_chr17:36093401-36094600 IAGP ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease ClinVar PMID:25741868 NCBI chr17:37,733,408...37,734,611 JBrowse link
G LOC130004359 ATAC-STARR-seq lymphoblastoid silent region 2621 IAGP ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease ClinVar NCBI chr10:92,689,756...92,690,075 JBrowse link
G LOC130005346 ATAC-STARR-seq lymphoblastoid silent region 3160 IAGP ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease ClinVar NCBI chr11:11,966,973...11,967,022 JBrowse link
G LOC130063575 ATAC-STARR-seq lymphoblastoid active region 14018 IAGP ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease
ClinVar Annotator: match by term: Polycystic liver disease 1		 ClinVar PMID:25741868 PMID:26046366 PMID:28492532 NCBI chr19:11,435,973...11,436,192 JBrowse link
G LOC130067168 ATAC-STARR-seq lymphoblastoid silent region 13581 IAGP ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease ClinVar NCBI chr22:28,800,115...28,800,694 JBrowse link
G LRP5 LDL receptor related protein 5 susceptibility IAGP DNA:missense mutation:cds:p.R118W (3562C>T) (human)
ClinVar Annotator: match by term: Polycystic liver disease 1
ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease		 ClinVar
RGD		 PMID:24706814 PMID:25741868 PMID:28492532 PMID:30452590 PMID:24706814 RGD:11063140 NCBI chr11:68,298,412...68,449,275
Ensembl chr11:68,312,591...68,449,275 		JBrowse link
G LRP6 LDL receptor related protein 6 IAGP ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease ClinVar PMID:26901136 PMID:28492532 NCBI chr12:12,116,025...12,267,044
Ensembl chr12:12,116,025...12,267,044 		JBrowse link
G NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor IAGP ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease ClinVar NCBI chr22:29,603,556...29,698,600
Ensembl chr22:29,603,556...29,698,598 		JBrowse link
G ODAD3 outer dynein arm docking complex subunit 3 IAGP ClinVar Annotator: match by term: Polycystic liver disease 1 ClinVar NCBI chr19:11,420,605...11,435,782
Ensembl chr19:11,420,604...11,435,782 		JBrowse link
G ONECUT1 one cut homeobox 1 IAGP ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease ClinVar NCBI chr15:52,755,053...52,790,336
Ensembl chr15:52,755,053...52,791,078 		JBrowse link
G ONECUT2 one cut homeobox 2 IAGP ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease ClinVar NCBI chr18:57,435,374...57,491,298
Ensembl chr18:57,435,374...57,491,298 		JBrowse link
G PKD1 polycystin 1, transient receptor potential channel interacting IAGP ClinVar Annotator: match by term: Polycystic liver disease 1 ClinVar PMID:9668165 PMID:17582161 PMID:21744088 PMID:22185115 PMID:25263802 More... NCBI chr16:2,088,708...2,135,898
Ensembl chr16:2,088,708...2,135,898 		JBrowse link
G PKD2 polycystin 2, transient receptor potential cation channel IAGP ClinVar Annotator: match by term: Polycystic liver disease 1
ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease		 ClinVar PMID:25741868 NCBI chr 4:88,007,635...88,077,777
Ensembl chr 4:88,007,635...88,077,777 		JBrowse link
G PKHD1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin IAGP ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease ClinVar PMID:1189128 PMID:11898128 PMID:11919560 PMID:12506140 PMID:12846734 More... NCBI chr 6:51,615,299...52,087,615
Ensembl chr 6:51,615,299...52,087,613 		JBrowse link
G PRKCSH PRKCSH beta subunit of glucosidase II IAGP ClinVar Annotator: match by term: Polycystic liver disease 1
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 chr19:11,435,635...11,450,968
Ensembl chr19:11,435,284...11,450,968 		JBrowse link
G RUVBL1 RuvB like AAA ATPase 1 IAGP ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease ClinVar NCBI chr 3:128,064,785...128,153,914
Ensembl chr 3:128,064,778...128,153,914 		JBrowse link
G SEC61A1 SEC61 translocon subunit alpha 1 IAGP ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease ClinVar NCBI chr 3:128,051,641...128,071,683
Ensembl chr 3:128,051,641...128,071,705 		JBrowse link
G SEC61A2 SEC61 translocon subunit alpha 2 IAGP ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease ClinVar NCBI chr10:12,129,641...12,169,958
Ensembl chr10:12,129,637...12,169,961 		JBrowse link
G SEC63 SEC63 homolog, protein translocation regulator IAGP ClinVar Annotator: match by term: Isolated autosomal dominant 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 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
ClinVar Annotator: match by term: Isolated autosomal dominant 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 chr 6:107,867,756...107,958,208
Ensembl chr 6:107,867,756...107,958,208 		JBrowse link
G XBP1 X-box binding protein 1 IAGP ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease ClinVar NCBI chr22:28,794,560...28,800,569
Ensembl chr22:28,794,555...28,800,597 		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 IAGP ClinVar Annotator: match by term: Polycystic liver disease 2
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 chr 6:107,867,756...107,958,208
Ensembl chr 6:107,867,756...107,958,208 		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 IAGP ClinVar Annotator: match by term: Polycystic liver disease 3 with or without kidney cysts ClinVar
OMIM		 PMID:9536098 PMID:15235028 PMID:16199547 PMID:17576681 PMID:19688606 More... NCBI chr11:78,100,946...78,139,626
Ensembl chr11:78,095,244...78,139,660 		JBrowse link
G LOC130006492 ATAC-STARR-seq lymphoblastoid active region 5315 IAGP ClinVar Annotator: match by term: Polycystic liver disease 3 with or without kidney cysts ClinVar PMID:25741868 PMID:28492532 NCBI chr11:78,139,399...78,139,478 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 IAGP ClinVar Annotator: match by term: Polycystic liver disease 4 with or without kidney cysts
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 | 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 chr11:68,298,412...68,449,275
Ensembl chr11:68,312,591...68,449,275 		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 (LAN blood group) EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 2:219,209,772...219,218,958
Ensembl chr 2:219,209,772...219,218,994 		JBrowse link
G ADAMTS7 ADAM metallopeptidase with thrombospondin type 1 motif 7 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr15:78,759,206...78,811,464
Ensembl chr15:78,759,206...78,811,464 		JBrowse link
G ADARB1 adenosine deaminase RNA specific B1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr21:45,074,578...45,226,563
Ensembl chr21:45,073,853...45,226,560 		JBrowse link
G ADGRD2 adhesion G protein-coupled receptor D2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 9:124,450,451...124,478,580
Ensembl chr 9:124,450,451...124,478,589 		JBrowse link
G ADIPOQ adiponectin, C1Q and collagen domain containing IEP RGD PMID:16868149 RGD:8694433 NCBI chr 3:186,842,710...186,858,463
Ensembl chr 3:186,842,704...186,858,463 		JBrowse link
G ADM adrenomedullin EXP CTD Direct Evidence: therapeutic CTD PMID:33491863 NCBI chr11:10,305,073...10,307,397
Ensembl chr11:10,305,073...10,307,397 		JBrowse link
G ADRA1A adrenoceptor alpha 1A ISO mRNA,protein:increased expression:ovary (rat) RGD PMID:15795180 RGD:5508374 NCBI chr 8:26,748,150...26,867,379
Ensembl chr 8:26,748,150...26,867,278 		JBrowse link
G ADRA1B adrenoceptor alpha 1B ISO mRNA,protein:increased expression:ovary (rat) RGD PMID:15795180 RGD:5508374 NCBI chr 5:159,865,086...159,989,205
Ensembl chr 5:159,865,080...159,973,012 		JBrowse link
G ADRA1D adrenoceptor alpha 1D ISO mRNA,protein:increased expression:ovary (rat) RGD PMID:15795180 RGD:5508374 NCBI chr20:4,220,630...4,249,287
Ensembl chr20:4,220,630...4,249,287 		JBrowse link
G ADRB2 adrenoceptor beta 2 ISO mRNA,protein:decreased expression:ovary (rat) RGD PMID:15795180 RGD:5508374 NCBI chr 5:148,826,611...148,828,623
Ensembl chr 5:148,826,611...148,828,623 		JBrowse link
G ADRB3 adrenoceptor beta 3 ISO mRNA:increased expression:gastrointestinal system mesentery, adipose tissue RGD PMID:19158405 RGD:2313167 NCBI chr 8:37,962,990...37,966,599
Ensembl chr 8:37,962,990...37,966,599 		JBrowse link
G AKR1C1 aldo-keto reductase family 1 member C1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22381227 NCBI chr10:4,963,415...4,983,283
Ensembl chr10:4,963,253...4,983,283 		JBrowse link
G AKR1C2 aldo-keto reductase family 1 member C2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22381227 NCBI chr10:4,987,775...5,018,000
Ensembl chr10:4,987,775...5,018,031 		JBrowse link
G AKR1C3 aldo-keto reductase family 1 member C3 ISO
EXP		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:16263811 PMID:21262361 PMID:22381227 PMID:8402388 RGD:11541125 NCBI chr10:5,048,781...5,107,686
Ensembl chr10:5,035,354...5,107,686 		JBrowse link
G AKT2 AKT serine/threonine kinase 2 ISS OMIM:184700 MouseDO NCBI chr19:40,230,317...40,285,345
Ensembl chr19:40,230,317...40,285,536 		JBrowse link
G AMH anti-Mullerian hormone IEP protein:increased expression:serum RGD PMID:17224152 RGD:1601181 NCBI chr19:2,249,323...2,252,073
Ensembl chr19:2,249,309...2,252,073 		JBrowse link
G ANLN anillin, actin binding protein EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 7:36,389,862...36,453,791
Ensembl chr 7:36,389,821...36,453,791 		JBrowse link
G AR androgen receptor no_association IAGP RGD PMID:15950642 RGD:1578688 NCBI chr  X:67,544,021...67,730,619
Ensembl chr  X:67,544,021...67,730,619 		JBrowse link
G ARHGAP23 Rho GTPase activating protein 23 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr17:38,419,275...38,512,385
Ensembl chr17:38,419,280...38,512,385 		JBrowse link
G ARHGAP30 Rho GTPase activating protein 30 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 1:161,046,946...161,069,891
Ensembl chr 1:161,046,946...161,069,970 		JBrowse link
G ASPM assembly factor for spindle microtubules EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 1:197,084,127...197,146,669
Ensembl chr 1:197,084,121...197,146,694 		JBrowse link
G ATF1 activating transcription factor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr12:50,763,459...50,821,162
Ensembl chr12:50,763,710...50,821,162 		JBrowse link
G ATP5F1B ATP synthase F1 subunit beta ISO mRNA, protein:decreased expression:pancreas (rat) RGD PMID:28397049 RGD:13703107 NCBI chr12:56,638,175...56,645,984
Ensembl chr12:56,638,175...56,645,984 		JBrowse link
G AZGP1 alpha-2-glycoprotein 1, zinc-binding EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 7:99,966,730...99,976,031
Ensembl chr 7:99,966,720...99,976,042 		JBrowse link
G BAX BCL2 associated X, apoptosis regulator EXP CTD Direct Evidence: marker/mechanism CTD PMID:21062263 NCBI chr19:48,954,875...48,961,798
Ensembl chr19:48,954,815...48,961,798 		JBrowse link
G BBOF1 basal body orientation factor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr14:74,019,349...74,082,864
Ensembl chr14:74,019,349...74,082,863 		JBrowse link
G BCL11A BCL11 transcription factor A EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 2:60,450,520...60,553,924
Ensembl chr 2:60,450,520...60,554,467 		JBrowse link
G BCL2 BCL2 apoptosis regulator ISO
EXP		 protein:increased expression:ovary
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:21062263 PMID:21062263 RGD:10054496 NCBI chr18:63,123,346...63,320,090
Ensembl chr18:63,123,346...63,320,128 		JBrowse link
G BLOC1S3 biogenesis of lysosomal organelles complex 1 subunit 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr19:45,178,784...45,217,083
Ensembl chr19:45,178,784...45,216,933 		JBrowse link
G BMP15 bone morphogenetic protein 15 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22825968 NCBI chr  X:50,910,735...50,916,641
Ensembl chr  X:50,910,735...50,916,641 		JBrowse link
G CAMK2D calcium/calmodulin dependent protein kinase II delta EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 4:113,451,032...113,761,738
Ensembl chr 4:113,418,054...113,761,927 		JBrowse link
G CAPN10 calpain 10 IAGP 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 2:240,586,734...240,599,104
Ensembl chr 2:240,586,734...240,617,705 		JBrowse link
G CARMIL3 capping protein regulator and myosin 1 linker 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr14:24,052,009...24,069,729
Ensembl chr14:24,052,009...24,069,729 		JBrowse link
G CCNB1 cyclin B1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 5:69,167,150...69,178,245
Ensembl chr 5:69,167,135...69,178,245 		JBrowse link
G CCNE2 cyclin E2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 8:94,880,224...94,896,693
Ensembl chr 8:94,879,770...94,896,678 		JBrowse link
G CD36 CD36 molecule (CD36 blood group) ISO protein:decreased expression:cardiac muscle cell RGD PMID:25702158 RGD:11041149 NCBI chr 7:80,602,207...80,679,274
Ensembl chr 7:80,369,575...80,679,277 		JBrowse link
G CDC6 cell division cycle 6 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr17:40,287,879...40,304,657
Ensembl chr17:40,287,879...40,304,657 		JBrowse link
G CDH15 cadherin 15 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr16:89,171,748...89,195,492
Ensembl chr16:89,171,748...89,195,492 		JBrowse link
G CEP55 centrosomal protein 55 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr10:93,496,612...93,529,092
Ensembl chr10:93,496,612...93,529,092 		JBrowse link
G CGB5 chorionic gonadotropin subunit beta 5 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr19:49,043,848...49,045,311
Ensembl chr19:49,043,848...49,045,311 		JBrowse link
G CIMAP1B ciliary microtubule associated protein 1B EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr22:50,530,426...50,532,498
Ensembl chr22:50,529,710...50,532,506 		JBrowse link
G CKS2 CDC28 protein kinase regulatory subunit 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 9:89,311,195...89,316,703
Ensembl chr 9:89,311,195...89,316,703 		JBrowse link
G CLDN4 claudin 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 7:73,830,996...73,832,690
Ensembl chr 7:73,799,542...73,832,690 		JBrowse link
G CMTR2 cap methyltransferase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr16:71,281,392...71,289,722
Ensembl chr16:71,281,389...71,289,715 		JBrowse link
G CNTROB centrobin, centriole duplication and spindle assembly protein EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr17:7,932,081...7,949,920
Ensembl chr17:7,932,101...7,949,920 		JBrowse link
G COMT catechol-O-methyltransferase IEP protein:increased expression:ovary RGD PMID:17535988 RGD:2289711 NCBI chr22:19,941,772...19,969,975
Ensembl chr22:19,941,371...19,969,975 		JBrowse link
G CYP17A1 cytochrome P450 family 17 subfamily A member 1 IEP protein:increased activity:ovary follicle, theca cell (human) RGD PMID:11739466 RGD:4888511 NCBI chr10:102,830,531...102,837,413
Ensembl chr10:102,830,531...102,837,472 		JBrowse link
G CYP19A1 cytochrome P450 family 19 subfamily A member 1 susceptibility IAGP
EXP
ISO		 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 chr15:51,208,057...51,338,596
Ensembl chr15:51,208,057...51,338,601 		JBrowse link
G CYP1A1 cytochrome P450 family 1 subfamily A member 1 IAGP RGD PMID:18339256 RGD:11576309 NCBI chr15:74,719,542...74,725,528
Ensembl chr15:74,719,542...74,725,536 		JBrowse link
G DACT3 dishevelled binding antagonist of beta catenin 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr19:46,647,551...46,661,182
Ensembl chr19:46,647,551...46,661,182 		JBrowse link
G DCBLD2 discoidin, CUB and LCCL domain containing 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 3:98,795,941...98,901,695
Ensembl chr 3:98,795,941...98,901,695 		JBrowse link
G DDX54 DEAD-box helicase 54 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr12:113,157,173...113,185,478
Ensembl chr12:113,157,173...113,185,479 		JBrowse link
G DLG4 discs large MAGUK scaffold protein 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr17:7,187,187...7,220,050
Ensembl chr17:7,187,187...7,219,841 		JBrowse link
G DMD dystrophin EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr  X:31,119,222...33,339,388
Ensembl chr  X:31,097,677...33,339,609 		JBrowse link
G DUX4L5 double homeobox 4 like 5 (pseudogene) EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 4:190,077,818...190,079,102
Ensembl chr 4:190,077,818...190,079,092 		JBrowse link
G ELAVL3 ELAV like RNA binding protein 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr19:11,451,326...11,481,046
Ensembl chr19:11,451,326...11,481,046 		JBrowse link
G EMSY EMSY transcriptional repressor, BRCA2 interacting EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr11:76,445,018...76,553,031
Ensembl chr11:76,444,923...76,553,031 		JBrowse link
G ERRFI1 ERBB receptor feedback inhibitor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 1:8,011,727...8,026,309
Ensembl chr 1:8,004,404...8,026,309 		JBrowse link
G FBXO44 F-box protein 44 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 1:11,654,407...11,663,327
Ensembl chr 1:11,654,375...11,663,327 		JBrowse link
G FGF18 fibroblast growth factor 18 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 5:171,419,647...171,457,626
Ensembl chr 5:171,419,647...171,457,626 		JBrowse link
G FLT4 fms related receptor tyrosine kinase 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 5:180,601,506...180,650,298
Ensembl chr 5:180,601,506...180,649,624 		JBrowse link
G FOXP3 forkhead box P3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr  X:49,250,438...49,264,710
Ensembl chr  X:49,250,438...49,264,800 		JBrowse link
G FSHR follicle stimulating hormone receptor EXP CTD Direct Evidence: marker/mechanism CTD PMID:22885925 NCBI chr 2:48,962,157...49,154,515
Ensembl chr 2:48,962,157...49,154,527 		JBrowse link
G FST follistatin IAGP DNA:polymorphism RGD PMID:10411917 RGD:1601259 NCBI chr 5:53,480,629...53,487,134
Ensembl chr 5:53,480,626...53,487,134 		JBrowse link
G FUT7 fucosyltransferase 7 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 9:137,030,174...137,032,088
Ensembl chr 9:137,030,174...137,032,088 		JBrowse link
G GAB1 GRB2 associated binding protein 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 4:143,336,876...143,474,565
Ensembl chr 4:143,336,876...143,474,565 		JBrowse link
G GDF9 growth differentiation factor 9 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22825968 NCBI chr 5:132,861,185...132,866,651
Ensembl chr 5:132,861,181...132,866,884 		JBrowse link
G GIP gastric inhibitory polypeptide IEP associated with Obesity; protein:increased expression:plasma (human) RGD PMID:19375579 RGD:2312588 NCBI chr17:48,958,554...48,968,596
Ensembl chr17:48,958,554...48,968,596 		JBrowse link
G GNAS GNAS complex locus EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr20:58,839,748...58,911,192
Ensembl chr20:58,839,718...58,911,192 		JBrowse link
G GP1BB glycoprotein Ib platelet subunit beta EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr22:19,723,539...19,724,771
Ensembl chr22:19,723,539...19,724,771 		JBrowse link
G GPX3 glutathione peroxidase 3 treatment ISO RGD PMID:35663203 RGD:401827905 NCBI chr 5:151,020,591...151,028,988
Ensembl chr 5:151,020,591...151,028,988 		JBrowse link
G HACD1 3-hydroxyacyl-CoA dehydratase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr10:17,589,032...17,617,374
Ensembl chr10:17,589,032...17,617,374 		JBrowse link
G HELLS helicase, lymphoid specific EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr10:94,545,788...94,613,905
Ensembl chr10:94,545,329...94,613,905 		JBrowse link
G HMMR hyaluronan mediated motility receptor EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 5:163,460,632...163,491,941
Ensembl chr 5:163,460,203...163,491,941 		JBrowse link
G HOOK3 hook microtubule tethering protein 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 8:42,896,978...43,030,535
Ensembl chr 8:42,896,946...43,030,535 		JBrowse link
G HSD17B7 hydroxysteroid 17-beta dehydrogenase 7 ISO mRNA:decreased expression:ovarian cortex (rat) RGD PMID:25887459 RGD:10402205 NCBI chr 1:162,790,702...162,812,823
Ensembl chr 1:162,790,702...162,812,823 		JBrowse link
G HSD3B1 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22381227 NCBI chr 1:119,507,203...119,515,058
Ensembl chr 1:119,507,198...119,515,054 		JBrowse link
G HSD3B2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 ISO
EXP
IEP		 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 1:119,414,931...119,423,034
Ensembl chr 1:119,414,931...119,423,035 		JBrowse link
G IGF1 insulin like growth factor 1 IEP protein:increased expression:serum: RGD PMID:15653207 RGD:8549491 NCBI chr12:102,395,874...102,481,839
Ensembl chr12:102,395,874...102,481,744 		JBrowse link
G IGHG1 immunoglobulin heavy constant gamma 1 (G1m marker) EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr14:105,741,473...105,743,070
Ensembl chr14:105,736,343...105,743,071 		JBrowse link
G IL34 interleukin 34 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr16:70,579,899...70,660,682
Ensembl chr16:70,579,895...70,660,682 		JBrowse link
G INS insulin EXP CTD Direct Evidence: marker/mechanism CTD PMID:2777199 PMID:11889176 PMID:16123091 NCBI chr11:2,159,779...2,161,209
Ensembl chr11:2,159,779...2,161,221 		JBrowse link
G IQCC IQ motif containing C EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 1:32,205,671...32,208,682
Ensembl chr 1:32,205,671...32,208,682 		JBrowse link
G ISYNA1 inositol-3-phosphate synthase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr19:18,434,388...18,438,133
Ensembl chr19:18,434,388...18,438,167 		JBrowse link
G JSRP1 junctional sarcoplasmic reticulum protein 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr19:2,252,252...2,256,417
Ensembl chr19:2,252,252...2,269,759 		JBrowse link
G KICS2 KICSTOR subunit 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr12:64,186,316...64,222,296
Ensembl chr12:64,186,316...64,222,296 		JBrowse link
G KRT3 keratin 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr12:52,789,685...52,796,117
Ensembl chr12:52,789,685...52,796,117 		JBrowse link
G LARP4 La ribonucleoprotein 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr12:50,400,885...50,480,004
Ensembl chr12:50,392,383...50,480,004 		JBrowse link
G LEP leptin EXP CTD Direct Evidence: marker/mechanism CTD PMID:22381227 NCBI chr 7:128,241,278...128,257,629
Ensembl chr 7:128,241,278...128,257,629 		JBrowse link
G LHB luteinizing hormone subunit beta EXP CTD Direct Evidence: marker/mechanism CTD PMID:11889176 PMID:20378617 NCBI chr19:49,015,980...49,019,498
Ensembl chr19:49,015,980...49,017,091 		JBrowse link
G LIF LIF interleukin 6 family cytokine EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr22:30,240,453...30,246,759
Ensembl chr22:30,240,453...30,246,759 		JBrowse link
G LIFR LIF receptor subunit alpha EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 5:38,474,668...38,608,403
Ensembl chr 5:38,474,668...38,608,354 		JBrowse link
G LINC00475 long intergenic non-protein coding RNA 475 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 9:92,141,467...92,159,608
Ensembl chr 9:92,141,438...92,141,650 		JBrowse link
G LMNA lamin A/C EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,573...156,140,081 		JBrowse link
G LPCAT2 lysophosphatidylcholine acyltransferase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr16:55,509,072...55,586,666
Ensembl chr16:55,509,072...55,586,666 		JBrowse link
G LRATD1 LRAT domain containing 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 2:14,632,717...14,651,916
Ensembl chr 2:14,632,700...14,650,814 		JBrowse link
G LSM5 LSM5 homolog, U6 small nuclear RNA and mRNA degradation associated EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 7:32,485,338...32,495,283
Ensembl chr 7:32,485,338...32,495,283 		JBrowse link
G LTK leukocyte receptor tyrosine kinase EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr15:41,503,637...41,513,827
Ensembl chr15:41,503,637...41,513,887 		JBrowse link
G MAD2L1 mitotic arrest deficient 2 like 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 4:120,055,623...120,066,848
Ensembl chr 4:120,055,623...120,066,858 		JBrowse link
G MALAT1 metastasis associated lung adenocarcinoma transcript 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr11:65,497,738...65,506,516
Ensembl chr11:65,497,640...65,508,073 		JBrowse link
G MANEA mannosidase endo-alpha EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 6:95,577,535...95,609,452
Ensembl chr 6:95,577,485...95,609,470 		JBrowse link
G MAPK8IP3 mitogen-activated protein kinase 8 interacting protein 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr16:1,706,195...1,770,351
Ensembl chr16:1,706,166...1,770,351 		JBrowse link
G MAPRE3 microtubule associated protein RP/EB family member 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 2:26,970,637...27,027,219
Ensembl chr 2:26,970,637...27,027,219 		JBrowse link
G MGAT5B alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase B EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr17:76,868,404...76,950,393
Ensembl chr17:76,868,404...76,950,393 		JBrowse link
G MIR222 microRNA 222 treatment IEP
ISO		 RNA:increased expression:blood RGD PMID:33230470 PMID:33230470 RGD:151893462, RGD:151893462 NCBI chr  X:45,747,015...45,747,124
Ensembl chr  X:45,747,015...45,747,124 		JBrowse link
G MMP2 matrix metallopeptidase 2 ISO protein:decreased expression:ovary RGD PMID:21910062 RGD:9999396 NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691 		JBrowse link
G MORN1 MORN repeat containing 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 1:2,321,253...2,391,554
Ensembl chr 1:2,321,253...2,391,707 		JBrowse link
G MTNR1B melatonin receptor 1B EXP CTD Direct Evidence: marker/mechanism CTD PMID:20207350 NCBI chr11:92,969,651...92,984,960
Ensembl chr11:92,969,651...92,985,066 		JBrowse link
G MYBL1 MYB proto-oncogene like 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 8:66,562,175...66,613,218
Ensembl chr 8:66,562,175...66,614,247 		JBrowse link
G NCOA2 nuclear receptor coactivator 2 ISO RGD PMID:29535146 RGD:152985548 NCBI chr 8:70,109,782...70,456,446
Ensembl chr 8:70,109,782...70,403,808 		JBrowse link
G NCOA4 nuclear receptor coactivator 4 IEP protein:increased expression:endometrium RGD PMID:16580389 RGD:2293533 NCBI chr10:46,005,088...46,030,623
Ensembl chr10:46,005,088...46,030,623 		JBrowse link
G NCOR1 nuclear receptor corepressor 1 ISO mRNA:increased expression:ovary (rat) RGD PMID:22349439 RGD:5688285 NCBI chr17:16,029,157...16,215,534
Ensembl chr17:16,029,065...16,218,185 		JBrowse link
G NGFR nerve growth factor receptor ISO mRNA,protein:increased expression:ovary (rat) RGD PMID:15795180 RGD:5508374 NCBI chr17:49,495,293...49,515,008
Ensembl chr17:49,495,293...49,515,008 		JBrowse link
G NMNAT3 nicotinamide nucleotide adenylyltransferase 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 3:139,560,180...139,678,050
Ensembl chr 3:139,560,180...139,678,017 		JBrowse link
G NOP53 NOP53 ribosome biogenesis factor EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr19:47,745,546...47,757,058
Ensembl chr19:47,745,546...47,757,058 		JBrowse link
G NPB neuropeptide B EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr17:81,902,238...81,902,905
Ensembl chr17:81,900,745...81,902,905 		JBrowse link
G NR3C1 nuclear receptor subfamily 3 group C member 1 ISO mRNA:increased expression:ovary RGD PMID:22176470 RGD:7174741 NCBI chr 5:143,277,931...143,435,512
Ensembl chr 5:143,277,931...143,435,512 		JBrowse link
G NR3C2 nuclear receptor subfamily 3 group C member 2 treatment ISO RGD PMID:31925474 RGD:401976287 NCBI chr 4:148,078,764...148,445,508
Ensembl chr 4:148,078,762...148,444,698 		JBrowse link
G NRG1 neuregulin 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 8:31,639,245...32,774,046
Ensembl chr 8:31,639,222...32,855,666 		JBrowse link
G PBK PDZ binding kinase EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 8:27,809,624...27,837,817
Ensembl chr 8:27,809,624...27,838,082 		JBrowse link
G PDE3B phosphodiesterase 3B EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr11:14,643,804...14,872,044
Ensembl chr11:14,643,804...14,872,044 		JBrowse link
G PDLIM4 PDZ and LIM domain 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 5:132,257,696...132,273,454
Ensembl chr 5:132,257,696...132,273,454 		JBrowse link
G PECAM1 platelet and endothelial cell adhesion molecule 1 IEP protein:increased expression:serum (human) RGD PMID:22456311 RGD:6767304 NCBI chr17:64,319,415...64,390,860
Ensembl chr17:64,319,415...64,413,776 		JBrowse link
G PGR progesterone receptor ISO protein:decreased expression:ovary: RGD PMID:19698287 RGD:4145934 NCBI chr11:101,029,624...101,129,813
Ensembl chr11:101,029,624...101,129,813 		JBrowse link
G PLEKHG5 pleckstrin homology and RhoGEF domain containing G5 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 1:6,467,122...6,520,092
Ensembl chr 1:6,467,122...6,520,074 		JBrowse link
G PNPLA2 patatin like phospholipase domain containing 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr11:818,914...825,573
Ensembl chr11:818,914...825,573 		JBrowse link
G PRKD2 protein kinase D2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr19:46,674,316...46,717,114
Ensembl chr19:46,674,275...46,717,127 		JBrowse link
G PTAFR platelet activating factor receptor EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 1:28,147,166...28,193,856
Ensembl chr 1:28,147,166...28,193,936 		JBrowse link
G PTCRA pre T cell antigen receptor alpha EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 6:42,916,053...42,925,838
Ensembl chr 6:42,915,989...42,925,838 		JBrowse link
G PTGER3 prostaglandin E receptor 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 1:70,852,358...71,047,816
Ensembl chr 1:70,852,353...71,047,816 		JBrowse link
G PWWP2B PWWP domain containing 2B EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr10:132,397,200...132,417,859
Ensembl chr10:132,397,168...132,417,859 		JBrowse link
G RAB2A RAB2A, member RAS oncogene family EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 8:60,516,910...60,623,644
Ensembl chr 8:60,516,936...60,623,644 		JBrowse link
G RACGAP1 Rac GTPase activating protein 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr12:49,989,162...50,033,440
Ensembl chr12:49,976,923...50,033,136 		JBrowse link
G RARRES2 retinoic acid receptor responder 2 treatment ISO RGD PMID:24762064 RGD:15036823 NCBI chr 7:150,338,329...150,341,629
Ensembl chr 7:150,338,317...150,341,662 		JBrowse link
G RASL10B RAS like family 10 member B EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr17:35,731,639...35,743,521
Ensembl chr17:35,731,639...35,743,521 		JBrowse link
G RBP4 retinol binding protein 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17456573 NCBI chr10:93,591,694...93,601,744
Ensembl chr10:93,591,687...93,601,744 		JBrowse link
G REXO1 RNA exonuclease 1 homolog EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr19:1,815,248...1,848,483
Ensembl chr19:1,815,248...1,848,483 		JBrowse link
G RHPN1 rhophilin Rho GTPase binding protein 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 8:143,364,255...143,384,221
Ensembl chr 8:143,368,876...143,384,221 		JBrowse link
G RP2 RP2 activator of ARL3 GTPase EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr  X:46,837,043...46,882,358
Ensembl chr  X:46,837,043...46,882,358 		JBrowse link
G RPL37A ribosomal protein L37a EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 2:216,498,844...216,504,086
Ensembl chr 2:216,498,825...216,579,180 		JBrowse link
G RRM2 ribonucleotide reductase regulatory subunit M2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 2:10,122,568...10,211,010
Ensembl chr 2:10,120,698...10,211,725 		JBrowse link
G RUNX3 RUNX family transcription factor 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 1:24,899,511...24,965,138
Ensembl chr 1:24,899,511...24,965,121 		JBrowse link
G S100A7A S100 calcium binding protein A7A EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 1:153,416,520...153,423,222
Ensembl chr 1:153,416,520...153,423,222 		JBrowse link
G S100P S100 calcium binding protein P EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 4:6,693,878...6,697,170
Ensembl chr 4:6,693,878...6,697,170 		JBrowse link
G SAP30L SAP30 like EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 5:154,445,997...154,461,053
Ensembl chr 5:154,445,997...154,461,053 		JBrowse link
G SCNN1A sodium channel epithelial 1 subunit alpha EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr12:6,346,847...6,377,359
Ensembl chr12:6,346,843...6,377,730 		JBrowse link
G SCT secretin EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr11:626,309...627,181
Ensembl chr11:626,309...627,181 		JBrowse link
G SERPINE1 serpin family E member 1 IEP protein:increased expression:plasma: RGD PMID:19375763 RGD:13208505 NCBI chr 7:101,127,104...101,139,247
Ensembl chr 7:101,127,104...101,139,247 		JBrowse link
G SFTPC surfactant protein C EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 8:22,157,383...22,164,479
Ensembl chr 8:22,156,913...22,164,479 		JBrowse link
G SLPI secretory leukocyte peptidase inhibitor ISO protein:increased expression:ovary RGD PMID:21910062 RGD:9999396 NCBI chr20:45,252,239...45,254,564
Ensembl chr20:45,252,239...45,254,564 		JBrowse link
G SOX15 SRY-box transcription factor 15 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr17:7,588,178...7,590,094
Ensembl chr17:7,588,178...7,590,094 		JBrowse link
G SPATA21 spermatogenesis associated 21 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 1:16,395,677...16,437,842
Ensembl chr 1:16,387,117...16,437,424 		JBrowse link
G SPTBN4 spectrin beta, non-erythrocytic 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr19:40,467,001...40,576,464
Ensembl chr19:40,466,241...40,576,464 		JBrowse link
G SRD5A1 steroid 5 alpha-reductase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 PMID:22381227 NCBI chr 5:6,633,440...6,674,386
Ensembl chr 5:6,633,290...6,676,539 		JBrowse link
G SRSF10 serine and arginine rich splicing factor 10 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 1:23,964,347...23,980,327
Ensembl chr 1:23,964,347...23,980,927 		JBrowse link
G STAR steroidogenic acute regulatory protein ISO
EXP		 protein:increased expression:ovary (rat)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:21262361 PMID:19698287 RGD:4145934 NCBI chr 8:38,142,700...38,150,952
Ensembl chr 8:38,142,700...38,150,992 		JBrowse link
G TAB1 TGF-beta activated kinase 1 (MAP3K7) binding protein 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr22:39,399,780...39,437,132
Ensembl chr22:39,399,778...39,437,060 		JBrowse link
G TBX1 T-box transcription factor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr22:19,756,703...19,783,593
Ensembl chr22:19,756,703...19,783,593 		JBrowse link
G TCF15 transcription factor 15 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr20:604,257...610,309
Ensembl chr20:604,257...610,309 		JBrowse link
G TEAD2 TEA domain transcription factor 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr19:49,340,595...49,362,416
Ensembl chr19:49,340,595...49,362,457 		JBrowse link
G TFRC transferrin receptor EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 3:196,049,284...196,082,090
Ensembl chr 3:196,012,511...196,082,153 		JBrowse link
G TH tyrosine hydroxylase ISO mRNA,protein:increased expression:ovary (rat) RGD PMID:15795180 RGD:5508374 NCBI chr11:2,163,929...2,171,815
Ensembl chr11:2,163,929...2,171,815 		JBrowse link
G THAP3 THAP domain containing 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 1:6,624,868...6,635,595
Ensembl chr 1:6,624,868...6,635,586 		JBrowse link
G TMEFF2 transmembrane protein with EGF like and two follistatin like domains 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 2:191,949,046...192,194,933
Ensembl chr 2:191,949,043...192,194,933 		JBrowse link
G TMEM151A transmembrane protein 151A EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr11:66,291,894...66,296,664
Ensembl chr11:66,291,894...66,296,664 		JBrowse link
G TMEM151B transmembrane protein 151B EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 6:44,270,450...44,279,444
Ensembl chr 6:44,270,450...44,307,506 		JBrowse link
G TMF1 TATA element modulatory factor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 3:69,019,827...69,052,333
Ensembl chr 3:69,019,827...69,052,339 		JBrowse link
G TNFSF10 TNF superfamily member 10 ISO protein:increased expression:ovary follicle, granulosa cell RGD PMID:17641850 RGD:2312746 NCBI chr 3:172,505,508...172,523,430
Ensembl chr 3:172,505,508...172,523,475 		JBrowse link
G TNPO2 transportin 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr19:12,699,201...12,723,932
Ensembl chr19:12,699,201...12,724,011 		JBrowse link
G TNRC6B trinucleotide repeat containing adaptor 6B EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr22:40,044,834...40,335,808
Ensembl chr22:40,044,817...40,335,808 		JBrowse link
G TONSL tonsoku like, DNA repair protein EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 8:144,428,775...144,444,440
Ensembl chr 8:144,428,775...144,444,440 		JBrowse link
G TOP2A DNA topoisomerase II alpha EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr17:40,388,525...40,417,896
Ensembl chr17:40,388,525...40,417,896 		JBrowse link
G TRPV6 transient receptor potential cation channel subfamily V member 6 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 7:142,871,208...142,885,745
Ensembl chr 7:142,871,208...142,885,745 		JBrowse link
G TTK TTK protein kinase EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 6:80,004,649...80,042,527
Ensembl chr 6:80,003,887...80,042,527 		JBrowse link
G TTLL9 tubulin tyrosine ligase like 9 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr20:31,870,634...31,945,000
Ensembl chr20:31,870,634...31,945,000 		JBrowse link
G UBE2H ubiquitin conjugating enzyme E2 H EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 7:129,830,732...129,952,960
Ensembl chr 7:129,830,732...129,952,960 		JBrowse link
G VDR vitamin D receptor susceptibility IAGP DNA:polymorphism,haplotype: :rs731236(human) RGD PMID:24078159 RGD:13210783 NCBI chr12:47,841,537...47,904,994
Ensembl chr12:47,841,537...47,943,048 		JBrowse link
G VEGFA vascular endothelial growth factor A IEP protein:increased expression:serum: RGD PMID:15653207 RGD:8549491 NCBI chr 6:43,770,211...43,786,487
Ensembl chr 6:43,770,184...43,786,487 		JBrowse link
G ZMYM5 zinc finger MYM-type containing 5 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr13:19,823,482...19,863,649
Ensembl chr13:19,823,482...19,863,649 		JBrowse link
G ZNF205 zinc finger protein 205 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr16:3,112,586...3,120,517
Ensembl chr16:3,112,560...3,120,517 		JBrowse link
G ZNF430 zinc finger protein 430 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr19:21,020,657...21,060,050
Ensembl chr19:21,020,634...21,060,050 		JBrowse link
G ZSWIM9 zinc finger SWIM-type containing 9 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr19:48,170,680...48,197,620
Ensembl chr19:48,170,680...48,197,620 		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 IEP protein:increased expression:periodontal ligament RGD PMID:20646081 RGD:6483772 NCBI chr17:34,270,221...34,272,242
Ensembl chr17:34,270,221...34,272,242 		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 IAGP
EXP		 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 4:110,617,423...110,642,123
Ensembl chr 4:110,617,423...110,642,123 		JBrowse link
RNASET2-deficient cystic leukoencephalopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC129997675 ATAC-STARR-seq lymphoblastoid silent region 17784 IAGP ClinVar Annotator: match by term: Cystic leukoencephalopathy without megalencephaly ClinVar PMID:25741868
G NDUFA2 NADH:ubiquinone oxidoreductase subunit A2 IAGP ClinVar Annotator: match by term: Cystic Leukoencephalopathy ClinVar PMID:25741868 PMID:27159321 PMID:28857146 NCBI chr 5:140,645,285...140,647,630
Ensembl chr 5:140,638,740...140,647,771 		JBrowse link
G RNASET2 ribonuclease T2 IAGP
EXP		 ClinVar Annotator: match by term: Cystic leukoencephalopathy without megalencephaly
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:19525954 PMID:25741868 PMID:28492532 NCBI chr 6:166,922,113...166,956,550
Ensembl chr 6:166,922,113...166,957,191 		JBrowse link
G TMCO6 transmembrane and coiled-coil domains 6 IAGP ClinVar Annotator: match by term: Cystic Leukoencephalopathy ClinVar PMID:25741868 PMID:27159321 PMID:28857146 NCBI chr 5:140,596,530...140,647,732
Ensembl chr 5:140,639,435...140,645,408 		JBrowse link
Urachal Cyst term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G XDH xanthine dehydrogenase IAGP ClinVar Annotator: match by term: Urachal cyst ClinVar PMID:25741868 PMID:28492532 PMID:30755392 NCBI chr 2:31,334,321...31,414,742
Ensembl chr 2:31,334,321...31,414,742 		JBrowse link
Van der Woude syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C1orf74 chromosome 1 open reading frame 74 IAGP ClinVar Annotator: match by term: Van der Woude syndrome 1 ClinVar PMID:14618417 NCBI chr 1:209,779,208...209,784,559
Ensembl chr 1:209,779,208...209,784,559 		JBrowse link
G CACNA1E calcium voltage-gated channel subunit alpha1 E IAGP ClinVar Annotator: match by term: Van der Woude syndrome 1 ClinVar PMID:17660294 PMID:23934111 PMID:25741868 PMID:28492532 PMID:30343943 NCBI chr 1:181,317,699...181,808,084
Ensembl chr 1:181,317,690...181,813,262 		JBrowse link
G GRHL3 grainyhead like transcription factor 3 ISS
IAGP		 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 1:24,319,357...24,364,482
Ensembl chr 1:24,199,558...24,364,482 		JBrowse link
G IRF6 interferon regulatory factor 6 IAGP
ISS
EXP		 ClinVar Annotator: match by term: Van der Woude syndrome 1
ClinVar Annotator: match by term: Lip pit syndrome | ClinVar Annotator: match by term: Van der Woude syndrome 1
OMIM:119300 | OMIM:606713
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM		 PMID:12219090 PMID:12920575 PMID:14618417 PMID:14640121 PMID:14757865 More... NCBI chr 1:209,785,617...209,806,142
Ensembl chr 1:209,785,617...209,806,175 		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 IAGP ClinVar Annotator: match by term: Van der Woude syndrome 2 ClinVar PMID:21574244 PMID:25741868 NCBI chr 1:43,172,330...43,254,358
Ensembl chr 1:43,172,330...43,254,358 		JBrowse link
G GRHL3 grainyhead like transcription factor 3 IAGP
EXP		 ClinVar Annotator: match by term: Van der Woude syndrome 2
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:11781685 PMID:16199547 PMID:20184620 PMID:22590528 PMID:22829784 More... NCBI chr 1:24,319,357...24,364,482
Ensembl chr 1:24,199,558...24,364,482 		JBrowse link
G GRHL3-AS1 GRHL3 antisense RNA 1 IAGP ClinVar Annotator: match by term: Van der Woude syndrome 2 ClinVar PMID:28492532 NCBI chr 1:24,305,928...24,321,991
Ensembl chr 1:24,307,556...24,321,901 		JBrowse link
G LOC126805719 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:43671864-43673063 IAGP ClinVar Annotator: match by term: Van der Woude syndrome 2 ClinVar PMID:21574244 NCBI chr 1:43,206,193...43,207,392 JBrowse link
G STPG1 sperm tail PG-rich repeat containing 1 IAGP ClinVar Annotator: match by term: Van der Woude syndrome 2 ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:24,356,999...24,415,044
Ensembl chr 1:24,356,999...24,416,934 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    disease of cellular proliferation 9736
      Cysts 349
        Aplasia Cutis Congenita, Congenital Heart Defect, and Frontonasal Cysts 0
        Bone Cysts + 44
        Branchioma 0
        Bronchogenic Cyst 0
        Central Nervous System Cysts + 11
        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 + 7
        Pilonidal Sinus 1
        RNASET2-deficient cystic leukoencephalopathy 4
        Sener Syndrome 0
        Synovial Cyst + 0
        Tarlov Cysts 0
        Thyroglossal Cyst + 0
        Urachal Cyst + 1
        Van der Woude syndrome + 8
        breast cyst + 0
        choledochal cyst + 9
        dermoid cyst + 5
        lymphocele + 0
        megalencephalic leukoencephalopathy with subcortical cysts + 6
        meibomian cyst 0
        ovarian cyst + 219
        parovarian cyst 0
        polycystic liver disease + 36
        spermatocele 0
Path 2
Term Annotations click to browse term
  disease 41189
    Pathological Conditions, Signs and Symptoms 21466
      Anatomical Pathological Conditions 3156
        Cysts 349
          Aplasia Cutis Congenita, Congenital Heart Defect, and Frontonasal Cysts 0
          Bone Cysts + 44
          Branchioma 0
          Bronchogenic Cyst 0
          Central Nervous System Cysts + 11
          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 + 7
          Pilonidal Sinus 1
          RNASET2-deficient cystic leukoencephalopathy 4
          Sener Syndrome 0
          Synovial Cyst + 0
          Tarlov Cysts 0
          Thyroglossal Cyst + 0
          Urachal Cyst + 1
          Van der Woude syndrome + 8
          breast cyst + 0
          choledochal cyst + 9
          dermoid cyst + 5
          lymphocele + 0
          megalencephalic leukoencephalopathy with subcortical cysts + 6
          meibomian cyst 0
          ovarian cyst + 219
          parovarian cyst 0
          polycystic liver disease + 36
          spermatocele 0
paths to the root