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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:tuberous sclerosis
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Accession:DOID:13515 term browser browse the term
Definition:A syndrome that is characterized by the growth of numerous noncancerous tumors in many parts of the body. (DO)
Synonyms:exact_synonym: Bourneville Phakomatosis;   Bourneville Pringle Disease;   Bourneville Pringle's Disease;   Bourneville Syndrome;   Bourneville disease;   Bourneville phacomatosis;   Bourneville's Disease;   Bourneville's Syndrome;   Bourneville-Pringles Disease;   Cerebral Sclerosis;   Epiloia;   TS;   TSC;   adenoma sebaceum;   cerebral scleroses;   sclerosis tuberosa;   tuberose sclerosis;   tuberous sclerosis complex;   tuberous sclerosis syndrome
 narrow_synonym: CORTICAL TUBERS
 primary_id: MESH:D014402
 xref: GARD:7830;   ICD10CM:Q85.1;   ICD9CM:759.5;   NCI:C3424;   OMIM:PS191100
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
tuberous sclerosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BMP4 bone morphogenetic protein 4 IEP protein:decreased expression, altered localization:cerebral cortex: RGD PMID:22752548 RGD:9068443 NCBI chr14:53,949,736...53,956,891
Ensembl chr14:53,949,736...53,958,761 		JBrowse link
G EIF4EBP1 eukaryotic translation initiation factor 4E binding protein 1 treatment ISO RGD PMID:12384518 RGD:1549429 NCBI chr 8:38,030,534...38,060,365
Ensembl chr 8:38,030,534...38,060,365 		JBrowse link
G FLNA filamin A IEP protein:increased expression:prefrontal cortex (human) RGD PMID:25277454 RGD:11565117 NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634 		JBrowse link
G IFNG interferon gamma EXP CTD Direct Evidence: therapeutic CTD PMID:16845661 NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740 		JBrowse link
G LOC130058210 ATAC-STARR-seq lymphoblastoid silent region 7024 IAGP ClinVar Annotator: match by term: Tuberous sclerosis syndrome ClinVar PMID:9536098 PMID:17576681 PMID:24728327 PMID:25741868 PMID:28492532 NCBI chr16:2,048,019...2,048,248 JBrowse link
G MMP9 matrix metallopeptidase 9 IEP protein:increased expression:cerebral cortex RGD PMID:22459050 RGD:8547829 NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561 		JBrowse link
G PKD1 polycystin 1, transient receptor potential channel interacting IAGP ClinVar Annotator: match by term: Tuberous sclerosis syndrome ClinVar NCBI chr16:2,088,708...2,135,898
Ensembl chr16:2,088,708...2,135,898 		JBrowse link
G TSC1 TSC complex subunit 1 susceptibility IAGP
ISS
EXP
ISO		 DNA:nonsense mutations, deletion: :multiple
ClinVar Annotator: match by term: Tuberous sclerosis syndrome
ClinVar Annotator: match by term: Cortical tubers | ClinVar Annotator: match by term: Tuberous sclerosis syndrome
CTD Direct Evidence: marker/mechanism
DNA:nonsense mutation:exon:p.R509X (c.1525C>T) (human)
DNA:deletions, duplication, point mutation:exon, intron:multiple		 ClinVar
MouseDO
CTD
RGD		 PMID:9242607 PMID:9328481 PMID:9536098 PMID:9803264 PMID:9863590 More... RGD:1624196, RGD:11073512, RGD:11570511, RGD:11062248 NCBI chr 9:132,891,349...132,945,378
Ensembl chr 9:132,891,348...132,946,874 		JBrowse link
G TSC2 TSC complex subunit 2 IEP
IAGP
ISS
EXP		 ClinVar Annotator: match by term: Tuberous sclerosis syndrome
ClinVar Annotator: match by term: Cortical tubers
CTD Direct Evidence: marker/mechanism
DNA:mutations:exon, intron:multiple		 ClinVar
MouseDO
CTD
RGD		 PMID:1112665 PMID:1520333 PMID:1870099 PMID:2039137 PMID:2903760 More... RGD:11568672, RGD:11062248 NCBI chr16:2,047,985...2,089,491
Ensembl chr16:2,047,967...2,089,491 		JBrowse link
tuberous sclerosis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA2 ATP binding cassette subfamily A member 2 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:137,007,234...137,028,922
Ensembl chr 9:137,007,234...137,028,915 		JBrowse link
G ABO ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase IAGP ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:133,250,401...133,275,201
Ensembl chr 9:133,233,278...133,276,024 		JBrowse link
G ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif 13 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:133,414,337...133,459,386
Ensembl chr 9:133,414,358...133,459,402 		JBrowse link
G ADAMTSL2 ADAMTS like 2 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:133,532,164...133,575,519
Ensembl chr 9:133,532,164...133,575,519 		JBrowse link
G AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:136,673,143...136,687,457
Ensembl chr 9:136,673,143...136,687,457 		JBrowse link
G AJM1 apical junction component 1 homolog IAGP ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:136,842,478...136,848,801
Ensembl chr 9:136,842,478...136,848,801 		JBrowse link
G AK8 adenylate kinase 8 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:132,725,578...132,879,046
Ensembl chr 9:132,725,578...132,878,777 		JBrowse link
G BARHL1 BarH like homeobox 1 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:132,582,606...132,590,252
Ensembl chr 9:132,582,606...132,590,252 		JBrowse link
G BRD3 bromodomain containing 3 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:134,030,305...134,068,548
Ensembl chr 9:134,030,305...134,068,535 		JBrowse link
G C8G complement C8 gamma chain IAGP ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:136,945,243...136,946,975
Ensembl chr 9:136,945,185...136,946,975 		JBrowse link
G C9orf163 chromosome 9 putative open reading frame 163 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:136,483,495...136,486,067
Ensembl chr 9:136,483,495...136,486,067 		JBrowse link
G CACFD1 calcium channel flower domain containing 1 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:133,459,978...133,470,848
Ensembl chr 9:133,459,965...133,470,848 		JBrowse link
G CAMSAP1 calmodulin regulated spectrin associated protein 1 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:135,808,487...135,907,546
Ensembl chr 9:135,808,487...135,907,546 		JBrowse link
G CARD9 caspase recruitment domain family member 9 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:136,363,956...136,373,669
Ensembl chr 9:136,363,956...136,373,681 		JBrowse link
G CCDC183 coiled-coil domain containing 183 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:136,796,338...136,807,741
Ensembl chr 9:136,796,338...136,807,741 		JBrowse link
G CEL carboxyl ester lipase IAGP ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:133,061,981...133,071,861
Ensembl chr 9:133,061,981...133,071,861 		JBrowse link
G CFAP77 cilia and flagella associated protein 77 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:132,410,211...132,573,319
Ensembl chr 9:132,410,043...132,573,319 		JBrowse link
G CLIC3 chloride intracellular channel 3 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:136,994,608...136,996,568
Ensembl chr 9:136,994,608...136,996,568 		JBrowse link
G COL5A1 collagen type V alpha 1 chain IAGP ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:134,641,803...134,844,843
Ensembl chr 9:134,641,803...134,844,843 		JBrowse link
G DBH dopamine beta-hydroxylase IAGP ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:133,636,363...133,659,329
Ensembl chr 9:133,636,363...133,659,329 		JBrowse link
G DDX31 DEAD-box helicase 31 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:132,592,997...132,669,983
Ensembl chr 9:132,592,997...132,670,401 		JBrowse link
G DIPK1B divergent protein kinase domain 1B IAGP ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:136,712,572...136,724,742
Ensembl chr 9:136,712,572...136,724,742 		JBrowse link
G DNLZ DNL-type zinc finger IAGP ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:136,359,483...136,363,744
Ensembl chr 9:136,359,480...136,363,744 		JBrowse link
G DPP7 dipeptidyl peptidase 7 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:137,110,546...137,118,306
Ensembl chr 9:137,110,542...137,118,309 		JBrowse link
G EDF1 endothelial differentiation related factor 1 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:136,862,119...136,866,308
Ensembl chr 9:136,862,119...136,866,308 		JBrowse link
G EGFL7 EGF like domain multiple 7 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:136,658,856...136,672,678
Ensembl chr 9:136,658,856...136,672,678 		JBrowse link
G ENTPD2 ectonucleoside triphosphate diphosphohydrolase 2 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:137,048,107...137,054,061
Ensembl chr 9:137,048,107...137,054,061 		JBrowse link
G ENTR1 endosome associated trafficking regulator 1 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:136,401,922...136,410,614
Ensembl chr 9:136,401,922...136,410,614 		JBrowse link
G FAM163B family with sequence similarity 163 member B IAGP ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:133,577,081...133,609,389
Ensembl chr 9:133,577,081...133,609,389 		JBrowse link
G FBXW5 F-box and WD repeat domain containing 5 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:136,940,435...136,944,738
Ensembl chr 9:136,940,435...136,944,738 		JBrowse link
G FCN1 ficolin 1 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:134,903,232...134,917,912
Ensembl chr 9:134,903,232...134,917,912 		JBrowse link
G FCN2 ficolin 2 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:134,864,144...134,887,523
Ensembl chr 9:134,880,810...134,887,523 		JBrowse link
G FUT7 fucosyltransferase 7 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:137,030,174...137,032,088
Ensembl chr 9:137,030,174...137,032,088 		JBrowse link
G GBGT1 globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 (FORS blood group) IAGP ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:133,152,948...133,163,914
Ensembl chr 9:133,152,948...133,163,933 		JBrowse link
G GFI1B growth factor independent 1B transcriptional repressor IAGP ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:132,945,531...132,993,434
Ensembl chr 9:132,944,000...132,991,687 		JBrowse link
G GLT6D1 glycosyltransferase 6 domain containing 1 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:135,623,648...135,641,216
Ensembl chr 9:135,623,648...135,639,540 		JBrowse link
G GPSM1 G protein signaling modulator 1 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:136,327,539...136,359,601
Ensembl chr 9:136,327,476...136,359,605 		JBrowse link
G GRIN1 glutamate ionotropic receptor NMDA type subunit 1 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:137,139,154...137,168,756
Ensembl chr 9:137,138,346...137,168,756 		JBrowse link
G GTF3C4 general transcription factor IIIC subunit 4 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:132,670,035...132,694,955
Ensembl chr 9:132,670,035...132,694,953 		JBrowse link
G GTF3C5 general transcription factor IIIC subunit 5 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:133,030,708...133,058,503
Ensembl chr 9:133,030,675...133,058,503 		JBrowse link
G INPP5E inositol polyphosphate-5-phosphatase E IAGP ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:136,428,619...136,439,845
Ensembl chr 9:136,428,619...136,439,845 		JBrowse link
G KCNT1 potassium sodium-activated channel subfamily T member 1 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:135,702,185...135,795,502
Ensembl chr 9:135,702,185...135,795,508 		JBrowse link
G LCN1 lipocalin 1 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:135,521,440...135,526,540
Ensembl chr 9:135,521,438...135,526,540 		JBrowse link
G LCN10 lipocalin 10 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:136,738,170...136,742,940
Ensembl chr 9:136,738,167...136,743,356 		JBrowse link
G LCN12 lipocalin 12 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:136,949,197...136,956,538
Ensembl chr 9:136,949,551...136,955,497 		JBrowse link
G LCN15 lipocalin 15 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:136,759,634...136,764,518
Ensembl chr 9:136,759,634...136,766,255 		JBrowse link
G LCN6 lipocalin 6 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:136,744,017...136,748,525
Ensembl chr 9:136,744,017...136,748,525 		JBrowse link
G LCN8 lipocalin 8 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:136,754,386...136,758,543
Ensembl chr 9:136,754,386...136,758,543 		JBrowse link
G LCN9 lipocalin 9 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:135,663,309...135,666,961
Ensembl chr 9:135,663,309...135,666,961 		JBrowse link
G LCNL1 lipocalin like 1 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:136,982,993...136,985,758
Ensembl chr 9:136,981,904...136,986,410 		JBrowse link
G LHX3 LIM homeobox 3 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:136,196,250...136,205,128
Ensembl chr 9:136,196,250...136,205,128 		JBrowse link
G LINC02907 long intergenic non-protein coding RNA 2907 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:135,343,249...135,346,562
Ensembl chr 9:135,343,249...135,346,562 		JBrowse link
G LINC02908 long intergenic non-protein coding RNA 2908 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:137,027,464...137,037,955
Ensembl chr 9:137,027,464...137,037,957 		JBrowse link
G LOC111365185 GATA motif-containing MPRA enhancer 41 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:25741868 NCBI chr 9:133,003,226...133,004,778 JBrowse link
G LOC113839536 Sharpr-MPRA regulatory region 7884 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:25741868 NCBI chr 9:132,770,142...132,770,601 JBrowse link
G LOC116216102 CRISPRi-validated cis-regulatory element chr9.3630 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:25741868 NCBI chr 9:132,998,806...132,999,728 JBrowse link
G LOC130002881 ATAC-STARR-seq lymphoblastoid active region 29222 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:25741868 NCBI chr 9:132,769,972...132,770,031 JBrowse link
G LOC130002882 ATAC-STARR-seq lymphoblastoid active region 29223 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:25741868 NCBI chr 9:132,873,444...132,873,553 JBrowse link
G LOC130002883 ATAC-STARR-seq lymphoblastoid silent region 20438 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:132,944,224...132,944,283 JBrowse link
G LOC130002884 ATAC-STARR-seq lymphoblastoid silent region 20439 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:132,944,344...132,944,403 JBrowse link
G MAMDC4 MAM domain containing 4 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:136,852,346...136,860,799
Ensembl chr 9:136,850,943...136,860,799 		JBrowse link
G MAN1B1 mannosidase alpha class 1B member 1 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:137,086,985...137,109,183
Ensembl chr 9:137,086,857...137,109,189 		JBrowse link
G MED22 mediator complex subunit 22 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:133,338,312...133,348,131
Ensembl chr 9:133,338,312...133,348,131 		JBrowse link
G MIR126 microRNA 126 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:136,670,602...136,670,686
Ensembl chr 9:136,670,602...136,670,686 		JBrowse link
G MIR548AW microRNA 548aw IAGP ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:132,945,707...132,945,771
Ensembl chr 9:132,945,707...132,945,771 		JBrowse link
G MRPS2 mitochondrial ribosomal protein S2 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:135,499,965...135,504,673
Ensembl chr 9:135,499,984...135,504,673 		JBrowse link
G MYMK myomaker, myoblast fusion factor IAGP ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:133,514,586...133,524,959
Ensembl chr 9:133,514,586...133,528,612 		JBrowse link
G NACC2 NACC family member 2 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:136,006,537...136,095,289
Ensembl chr 9:136,006,537...136,095,289 		JBrowse link
G NOTCH1 notch receptor 1 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:136,494,433...136,546,048
Ensembl chr 9:136,494,433...136,546,048 		JBrowse link
G NPDC1 neural proliferation, differentiation and control 1 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:137,039,463...137,046,177
Ensembl chr 9:137,039,463...137,046,179 		JBrowse link
G OBP2A odorant binding protein 2A IAGP ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:135,546,126...135,549,969
Ensembl chr 9:135,546,126...135,549,969 		JBrowse link
G OBP2B odorant binding protein 2B IAGP ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:133,205,279...133,223,255
Ensembl chr 9:133,205,277...133,209,250 		JBrowse link
G OLFM1 olfactomedin 1 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:135,075,505...135,121,184
Ensembl chr 9:135,075,422...135,121,180 		JBrowse link
G PAEP progestagen associated endometrial protein IAGP ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:135,561,756...135,566,955
Ensembl chr 9:135,561,756...135,566,955 		JBrowse link
G PAXX PAXX non-homologous end joining factor IAGP ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:136,992,422...136,993,976
Ensembl chr 9:136,992,422...136,993,984 		JBrowse link
G PHPT1 phosphohistidine phosphatase 1 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:136,849,409...136,851,024
Ensembl chr 9:136,848,724...136,851,027 		JBrowse link
G PIERCE1 piercer of microtubule wall 1 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:135,495,181...135,499,869
Ensembl chr 9:135,495,181...135,501,734 		JBrowse link
G PMPCA peptidase, mitochondrial processing subunit alpha IAGP ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:136,410,658...136,423,761
Ensembl chr 9:136,410,630...136,427,992 		JBrowse link
G PPP1R26 protein phosphatase 1 regulatory subunit 26 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:135,479,066...135,488,892
Ensembl chr 9:135,479,079...135,488,893 		JBrowse link
G PTGDS prostaglandin D2 synthase IAGP ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:136,977,504...136,981,742
Ensembl chr 9:136,975,092...136,981,742 		JBrowse link
G QSOX2 quiescin sulfhydryl oxidase 2 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:136,206,333...136,245,812
Ensembl chr 9:136,206,333...136,245,812 		JBrowse link
G RABL6 RAB, member RAS oncogene family like 6 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:136,807,948...136,841,187
Ensembl chr 9:136,807,943...136,841,187 		JBrowse link
G RALGDS ral guanine nucleotide dissociation stimulator IAGP ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:133,097,722...133,149,210
Ensembl chr 9:133,097,720...133,149,334 		JBrowse link
G REXO4 REX4 homolog, 3'-5' exonuclease IAGP ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:133,406,058...133,418,172
Ensembl chr 9:133,406,059...133,418,096 		JBrowse link
G RNU6ATAC RNA, U6atac small nuclear IAGP ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:134,164,440...134,164,564
Ensembl chr 9:134,164,439...134,164,564 		JBrowse link
G RPL7A ribosomal protein L7a IAGP ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:133,348,218...133,351,426
Ensembl chr 9:133,348,218...133,351,426 		JBrowse link
G RXRA retinoid X receptor alpha IAGP ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:134,326,455...134,440,585
Ensembl chr 9:134,317,098...134,440,585 		JBrowse link
G SAPCD2 suppressor APC domain containing 2 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:137,062,127...137,070,557
Ensembl chr 9:137,062,127...137,070,557 		JBrowse link
G SARDH sarcosine dehydrogenase IAGP ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:133,659,418...133,739,955
Ensembl chr 9:133,663,560...133,739,955 		JBrowse link
G SEC16A SEC16 homolog A, endoplasmic reticulum export factor IAGP ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:136,440,105...136,484,740
Ensembl chr 9:136,440,096...136,483,759 		JBrowse link
G SETX senataxin IAGP ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:132,261,356...132,356,744
Ensembl chr 9:132,261,356...132,354,986 		JBrowse link
G SLC2A6 solute carrier family 2 member 6 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:133,471,094...133,479,099
Ensembl chr 9:133,471,094...133,479,127 		JBrowse link
G SNAPC4 small nuclear RNA activating complex polypeptide 4 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:136,375,571...136,400,170
Ensembl chr 9:136,375,567...136,400,176 		JBrowse link
G SNHG7 small nucleolar RNA host gene 7 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:136,724,594...136,728,184
Ensembl chr 9:136,721,366...136,728,184 		JBrowse link
G SOHLH1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:135,693,407...135,702,112
Ensembl chr 9:135,693,407...135,704,498 		JBrowse link
G SPACA9 sperm acrosome associated 9 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:132,878,344...132,890,314
Ensembl chr 9:132,878,027...132,890,201 		JBrowse link
G STKLD1 serine/threonine kinase like domain containing 1 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:133,376,366...133,406,096
Ensembl chr 9:133,376,366...133,406,096 		JBrowse link
G SURF1 SURF1 cytochrome c oxidase assembly factor IAGP ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:133,351,758...133,356,487
Ensembl chr 9:133,351,758...133,356,676 		JBrowse link
G SURF2 surfeit 2 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:133,356,550...133,361,158
Ensembl chr 9:133,356,550...133,361,158 		JBrowse link
G SURF4 surfeit 4 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:133,361,464...133,377,949
Ensembl chr 9:133,361,450...133,376,166 		JBrowse link
G SURF6 surfeit 6 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:133,328,776...133,336,188
Ensembl chr 9:133,328,776...133,336,188 		JBrowse link
G TMEM141 transmembrane protein 141 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:136,791,344...136,793,317
Ensembl chr 9:136,791,344...136,793,317 		JBrowse link
G TMEM250 transmembrane protein 250 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:136,107,767...136,118,875
Ensembl chr 9:136,114,581...136,118,875 		JBrowse link
G TRAF2 TNF receptor associated factor 2 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:136,881,958...136,926,607
Ensembl chr 9:136,881,912...136,926,607 		JBrowse link
G TSC1 TSC complex subunit 1 treatment IMP
IAGP
EXP		 ClinVar Annotator: match by term: Tuberous sclerosis 1
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM
RGD		 PMID:9242607 PMID:9328481 PMID:9536098 PMID:9803264 PMID:9863590 More... RGD:11570507 NCBI chr 9:132,891,349...132,945,378
Ensembl chr 9:132,891,348...132,946,874 		JBrowse link
G TSC2 TSC complex subunit 2 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:10205261 PMID:17304050 PMID:21520333 PMID:25741868 PMID:27859028 More... NCBI chr16:2,047,985...2,089,491
Ensembl chr16:2,047,967...2,089,491 		JBrowse link
G TTF1 transcription termination factor 1 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:132,375,548...132,406,840
Ensembl chr 9:132,375,548...132,406,851 		JBrowse link
G UAP1L1 UDP-N-acetylglucosamine pyrophosphorylase 1 like 1 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:137,077,517...137,084,538
Ensembl chr 9:137,077,517...137,084,539 		JBrowse link
G UBAC1 UBA domain containing 1 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:135,932,969...135,961,373
Ensembl chr 9:135,932,969...135,961,373 		JBrowse link
G VAV2 vav guanine nucleotide exchange factor 2 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:133,761,894...133,992,324
Ensembl chr 9:133,761,894...133,992,604 		JBrowse link
G WDR5 WD repeat domain 5 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:134,135,199...134,159,968
Ensembl chr 9:134,135,365...134,159,968 		JBrowse link
tuberous sclerosis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANTKMT adenine nucleotide translocase lysine methyltransferase IAGP ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr16:721,146...722,590
Ensembl chr16:720,581...722,590 		JBrowse link
G BAIAP3 BAI1 associated protein 3 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr16:1,333,645...1,349,439
Ensembl chr16:1,333,638...1,349,439 		JBrowse link
G BRICD5 BRICHOS domain containing 5 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:25741868 NCBI chr16:2,209,253...2,210,863
Ensembl chr16:2,209,253...2,210,905 		JBrowse link
G C1QTNF8 C1q and TNF related 8 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr16:1,088,226...1,096,306
Ensembl chr16:1,088,226...1,096,711 		JBrowse link
G CACNA1H calcium voltage-gated channel subunit alpha1 H IAGP ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr16:1,153,106...1,221,768
Ensembl chr16:1,153,103...1,224,169 		JBrowse link
G CASKIN1 CASK interacting protein 1 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:25741868 NCBI chr16:2,177,180...2,196,605
Ensembl chr16:2,177,180...2,196,605 		JBrowse link
G CCDC154 coiled-coil domain containing 154 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr16:1,434,383...1,444,556
Ensembl chr16:1,434,383...1,444,556 		JBrowse link
G CCDC78 coiled-coil domain containing 78 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr16:722,582...726,880
Ensembl chr16:722,582...726,954 		JBrowse link
G CHTF18 chromosome transmission fidelity factor 18 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr16:788,620...798,074
Ensembl chr16:788,046...800,737 		JBrowse link
G CIAO3 cytosolic iron-sulfur assembly component 3 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr16:729,765...740,997
Ensembl chr16:729,760...741,329 		JBrowse link
G CLCN7 chloride voltage-gated channel 7 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr16:1,444,935...1,475,028
Ensembl chr16:1,444,934...1,475,077 		JBrowse link
G CRAMP1 cramped chromatin regulator homolog 1 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:20498439 PMID:28492532 PMID:29932062 NCBI chr16:1,612,360...1,677,908
Ensembl chr16:1,612,337...1,677,908 		JBrowse link
G DNASE1L2 deoxyribonuclease 1 like 2 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:25741868 NCBI chr16:2,236,444...2,238,711
Ensembl chr16:2,235,816...2,238,711 		JBrowse link
G E4F1 E4F transcription factor 1 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:25741868 NCBI chr16:2,223,591...2,235,742
Ensembl chr16:2,223,580...2,235,742 		JBrowse link
G ECI1 enoyl-CoA delta isomerase 1 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:25741868 NCBI chr16:2,239,402...2,251,587
Ensembl chr16:2,239,402...2,252,300 		JBrowse link
G ECI1-AS1 ECI1 antisense RNA 1 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:25741868 NCBI chr16:2,240,544...2,241,818
Ensembl chr16:2,240,487...2,241,818 		JBrowse link
G EME2 essential meiotic structure-specific endonuclease subunit 2 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:20498439 PMID:28492532 PMID:29932062 NCBI chr16:1,772,810...1,781,702
Ensembl chr16:1,772,810...1,781,708 		JBrowse link
G FAHD1 fumarylacetoacetate hydrolase domain containing 1 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:20498439 PMID:28492532 PMID:29932062 NCBI chr16:1,827,206...1,840,207
Ensembl chr16:1,826,967...1,840,207 		JBrowse link
G FBXL16 F-box and leucine rich repeat protein 16 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr16:692,500...705,801
Ensembl chr16:692,498...705,801 		JBrowse link
G GFER growth factor, augmenter of liver regeneration IAGP ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:10205261 PMID:16114042 PMID:17287951 PMID:17304050 PMID:20498439 More... NCBI chr16:1,984,193...1,987,749
Ensembl chr16:1,984,193...1,987,749 		JBrowse link
G GNG13 G protein subunit gamma 13 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr16:798,041...800,734
Ensembl chr16:798,041...800,734 		JBrowse link
G GNPTG N-acetylglucosamine-1-phosphate transferase subunit gamma IAGP ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr16:1,351,931...1,364,113
Ensembl chr16:1,351,931...1,365,737 		JBrowse link
G HAGH hydroxyacylglutathione hydrolase IAGP ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:20498439 PMID:28492532 PMID:29932062 NCBI chr16:1,807,629...1,827,194
Ensembl chr16:1,795,620...1,827,157 		JBrowse link
G HAGHL hydroxyacylglutathione hydrolase like IAGP ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr16:727,106...729,715
Ensembl chr16:726,936...735,525 		JBrowse link
G HS3ST6 heparan sulfate-glucosamine 3-sulfotransferase 6 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:20498439 PMID:25741868 PMID:28492532 More... NCBI chr16:1,911,475...1,920,940
Ensembl chr16:1,911,475...1,918,415 		JBrowse link
G IFNG interferon gamma IAGP
EXP		 CTD Direct Evidence: marker/mechanism OMIM
CTD		 NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740 		JBrowse link
G IFT140 intraflagellar transport 140 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:20498439 PMID:28492532 PMID:29932062 NCBI chr16:1,510,427...1,612,072
Ensembl chr16:1,510,427...1,612,072 		JBrowse link
G IGFALS insulin like growth factor binding protein acid labile subunit IAGP ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:20498439 PMID:28492532 PMID:29932062 NCBI chr16:1,790,413...1,794,908
Ensembl chr16:1,790,413...1,794,971 		JBrowse link
G JMJD8 jumonji domain containing 8 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr16:681,670...684,334
Ensembl chr16:681,670...684,528 		JBrowse link
G JPT2 Jupiter microtubule associated homolog 2 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:20498439 PMID:28492532 PMID:29932062 NCBI chr16:1,678,279...1,702,086
Ensembl chr16:1,678,256...1,702,280 		JBrowse link
G LINC00254 long intergenic non-protein coding RNA 254 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:25741868 NCBI chr16:1,878,285...1,884,231
Ensembl chr16:1,878,285...1,884,233 		JBrowse link
G LINC02124 long intergenic non-protein coding RNA 2124 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:25741868 NCBI chr16:1,889,114...1,890,434
Ensembl chr16:1,889,114...1,890,434 		JBrowse link
G LMF1 lipase maturation factor 1 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr16:853,634...981,613
Ensembl chr16:853,634...981,318 		JBrowse link
G LOC112340386 H3K4me1 hESC enhancers GRCh37_chr16:2261749-2262562 and GRCh37_chr16:2262563-2263376 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:25741868 NCBI chr16:2,211,748...2,213,375 JBrowse link
G LOC112340387 Sharpr-MPRA regulatory region 5944 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:25741868 NCBI chr16:2,214,757...2,215,416 JBrowse link
G LOC116268480 CRISPRi-validated cis-regulatory element chr16.496 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:25741868 NCBI chr16:2,022,608...2,024,297 JBrowse link
G LOC121530610 Sharpr-MPRA regulatory region 1858 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:25741868 NCBI chr16:1,920,908...1,921,202 JBrowse link
G LOC125146375 Sharpr-MPRA regulatory region 7653 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:25741868 NCBI chr16:2,005,608...2,005,902 JBrowse link
G LOC125146377 Sharpr-MPRA regulatory region 2092 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:25741868 NCBI chr16:2,020,528...2,020,822 JBrowse link
G LOC129390754 MPRA-validated peak2469 silencer IAGP ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:25741868 NCBI chr16:2,191,819...2,192,019 JBrowse link
G LOC130058195 ATAC-STARR-seq lymphoblastoid silent region 7010 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:25741868 NCBI chr16:1,943,173...1,943,672 JBrowse link
G LOC130058196 ATAC-STARR-seq lymphoblastoid silent region 7011 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:25741868 NCBI chr16:1,959,318...1,959,627 JBrowse link
G LOC130058197 ATAC-STARR-seq lymphoblastoid silent region 7012 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:25741868 NCBI chr16:1,960,058...1,960,167 JBrowse link
G LOC130058198 ATAC-STARR-seq lymphoblastoid active region 10241 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:25741868 NCBI chr16:1,961,368...1,961,647 JBrowse link
G LOC130058199 ATAC-STARR-seq lymphoblastoid active region 10242 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:25741868 NCBI chr16:1,961,688...1,961,737 JBrowse link
G LOC130058200 ATAC-STARR-seq lymphoblastoid active region 10248 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:25741868 NCBI chr16:1,971,839...1,972,178 JBrowse link
G LOC130058201 ATAC-STARR-seq lymphoblastoid active region 10249 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:25741868 NCBI chr16:1,972,239...1,972,378 JBrowse link
G LOC130058202 ATAC-STARR-seq lymphoblastoid active region 10250 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:25741868 NCBI chr16:1,981,386...1,981,445 JBrowse link
G LOC130058203 ATAC-STARR-seq lymphoblastoid silent region 7014 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:25741868 NCBI chr16:1,983,945...1,984,484 JBrowse link
G LOC130058204 ATAC-STARR-seq lymphoblastoid silent region 7015 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:25741868 NCBI chr16:1,990,100...1,990,189 JBrowse link
G LOC130058205 ATAC-STARR-seq lymphoblastoid silent region 7016 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:25741868 NCBI chr16:1,990,270...1,990,389 JBrowse link
G LOC130058206 ATAC-STARR-seq lymphoblastoid silent region 7017 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:25741868 NCBI chr16:1,991,430...1,991,509 JBrowse link
G LOC130058207 ATAC-STARR-seq lymphoblastoid silent region 7019 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:25741868 NCBI chr16:2,004,041...2,004,110 JBrowse link
G LOC130058208 ATAC-STARR-seq lymphoblastoid silent region 7020 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:25741868 NCBI chr16:2,009,120...2,009,189 JBrowse link
G LOC130058209 ATAC-STARR-seq lymphoblastoid active region 10253 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:25741868 PMID:28492532 NCBI chr16:2,047,839...2,047,928 JBrowse link
G LOC130058210 ATAC-STARR-seq lymphoblastoid silent region 7024 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:9536098 PMID:17576681 PMID:24728327 PMID:25741868 PMID:28492532 NCBI chr16:2,048,019...2,048,248 JBrowse link
G LOC130058211 ATAC-STARR-seq lymphoblastoid active region 10254 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:25741868 NCBI chr16:2,128,582...2,128,691 JBrowse link
G LOC130058212 ATAC-STARR-seq lymphoblastoid silent region 7025 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:25741868 NCBI chr16:2,135,827...2,135,996 JBrowse link
G LOC130058213 ATAC-STARR-seq lymphoblastoid silent region 7026 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:25741868 NCBI chr16:2,136,007...2,136,266 JBrowse link
G LOC130058214 ATAC-STARR-seq lymphoblastoid active region 10255 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:25741868 NCBI chr16:2,155,147...2,155,346 JBrowse link
G LOC130058215 ATAC-STARR-seq lymphoblastoid silent region 7033 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:25741868 NCBI chr16:2,155,827...2,155,916 JBrowse link
G LOC130058216 ATAC-STARR-seq lymphoblastoid active region 10256 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:25741868 NCBI chr16:2,156,217...2,156,316 JBrowse link
G LOC130058217 ATAC-STARR-seq lymphoblastoid silent region 7034 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:25741868 NCBI chr16:2,205,362...2,206,011 JBrowse link
G LOC130058218 ATAC-STARR-seq lymphoblastoid active region 10258 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:25741868 NCBI chr16:2,213,797...2,213,926 JBrowse link
G LOC130058219 ATAC-STARR-seq lymphoblastoid silent region 7035 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:25741868 NCBI chr16:2,214,367...2,214,416 JBrowse link
G LOC130058220 ATAC-STARR-seq lymphoblastoid silent region 7037 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:25741868 NCBI chr16:2,223,286...2,223,425 JBrowse link
G LOC130058221 ATAC-STARR-seq lymphoblastoid active region 10259 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:25741868 NCBI chr16:2,223,486...2,223,655 JBrowse link
G LOC130058222 ATAC-STARR-seq lymphoblastoid silent region 7038 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:25741868 NCBI chr16:2,223,716...2,223,805 JBrowse link
G LOC130058223 ATAC-STARR-seq lymphoblastoid active region 10260 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:25741868 NCBI chr16:2,223,886...2,224,025 JBrowse link
G MAPK8IP3 mitogen-activated protein kinase 8 interacting protein 3 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:20498439 PMID:28492532 PMID:29932062 NCBI chr16:1,706,195...1,770,351
Ensembl chr16:1,706,166...1,770,351 		JBrowse link
G MCRIP2 MAPK regulated corepressor interacting protein 2 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr16:641,828...648,474
Ensembl chr16:636,817...648,474 		JBrowse link
G MEIOB meiosis specific with OB-fold IAGP ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:20498439 PMID:25741868 PMID:28492532 More... NCBI chr16:1,833,986...1,872,164
Ensembl chr16:1,833,986...1,884,294 		JBrowse link
G METRN meteorin, glial cell differentiation regulator IAGP ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr16:715,118...719,655
Ensembl chr16:715,118...719,655 		JBrowse link
G METTL26 methyltransferase like 26 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr16:634,430...636,305
Ensembl chr16:634,427...636,366 		JBrowse link
G MIR1225 microRNA 1225 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:9829910 PMID:10205261 PMID:11112665 PMID:15024740 PMID:15874888 More... NCBI chr16:2,090,195...2,090,284
Ensembl chr16:2,090,195...2,090,284 		JBrowse link
G MIR3180-5 microRNA 3180-5 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:25741868 NCBI chr16:2,135,977...2,136,129
Ensembl chr16:2,135,977...2,136,129 		JBrowse link
G MIR4516 microRNA 4516 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:25741868 NCBI chr16:2,133,119...2,133,204
Ensembl chr16:2,133,119...2,133,204 		JBrowse link
G MIR6511B1 microRNA 6511b-1 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:25741868 PMID:28492532 NCBI chr16:2,106,669...2,106,753
Ensembl chr16:2,106,669...2,106,753 		JBrowse link
G MLST8 MTOR associated protein, LST8 homolog IAGP ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:25741868 NCBI chr16:2,205,454...2,209,453
Ensembl chr16:2,204,248...2,209,453 		JBrowse link
G MRPS34 mitochondrial ribosomal protein S34 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:20498439 PMID:28492532 PMID:29932062 NCBI chr16:1,771,895...1,773,134
Ensembl chr16:1,771,890...1,773,150 		JBrowse link
G MSLN mesothelin IAGP ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr16:760,734...768,865
Ensembl chr16:760,734...768,865 		JBrowse link
G MSRB1 methionine sulfoxide reductase B1 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:20498439 PMID:25741868 PMID:28492532 More... NCBI chr16:1,938,229...1,943,199
Ensembl chr16:1,938,229...1,943,199 		JBrowse link
G NDUFB10 NADH:ubiquinone oxidoreductase subunit B10 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:10205261 PMID:16114042 PMID:17287951 PMID:17304050 PMID:20498439 More... NCBI chr16:1,959,538...1,961,975
Ensembl chr16:1,959,538...1,961,975 		JBrowse link
G NHERF2 NHERF family PDZ scaffold protein 2 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:10205261 PMID:16114042 PMID:17287951 PMID:17304050 PMID:20498439 More... NCBI chr16:2,026,902...2,039,026
Ensembl chr16:2,025,356...2,039,026 		JBrowse link
G NME3 NME/NM23 nucleoside diphosphate kinase 3 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:20498439 PMID:28492532 PMID:29932062 NCBI chr16:1,770,320...1,771,543
Ensembl chr16:1,770,320...1,771,561 		JBrowse link
G NOXO1 NADPH oxidase organizer 1 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:10205261 PMID:16114042 PMID:17287951 PMID:17304050 PMID:20498439 More... NCBI chr16:1,978,917...1,981,469
Ensembl chr16:1,978,917...1,984,192 		JBrowse link
G NPW neuropeptide W IAGP ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:10205261 PMID:16114042 PMID:17287951 PMID:17304050 PMID:20498439 More... NCBI chr16:2,019,785...2,020,755
Ensembl chr16:2,009,926...2,020,755 		JBrowse link
G NTHL1 nth like DNA glycosylase 1 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:10205261 PMID:16114042 PMID:17287951 PMID:17304050 PMID:20498439 More... NCBI chr16:2,039,820...2,047,834
Ensembl chr16:2,039,815...2,047,866 		JBrowse link
G NUBP2 NUBP iron-sulfur cluster assembly factor 2, cytosolic IAGP ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:20498439 PMID:28492532 PMID:29932062 NCBI chr16:1,782,960...1,789,186
Ensembl chr16:1,782,932...1,789,186 		JBrowse link
G PGP phosphoglycolate phosphatase IAGP ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:25741868 NCBI chr16:2,211,593...2,214,840
Ensembl chr16:2,211,593...2,214,840 		JBrowse link
G PIGQ phosphatidylinositol glycan anchor biosynthesis class Q IAGP ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr16:569,968...584,109
Ensembl chr16:566,995...584,109 		JBrowse link
G PKD1 polycystin 1, transient receptor potential channel interacting IAGP ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:9829910 PMID:10205261 PMID:11112665 PMID:15024740 PMID:15874888 More... NCBI chr16:2,088,708...2,135,898
Ensembl chr16:2,088,708...2,135,898 		JBrowse link
G PKD1-AS1 PKD1 antisense RNA 1 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:21520333 PMID:24789117 PMID:25741868 More... NCBI chr16:2,091,436...2,095,017
Ensembl chr16:2,091,436...2,095,433 		JBrowse link
G PRR25 proline rich 25 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr16:805,443...813,861 JBrowse link
G PTX4 pentraxin 4 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr16:1,485,886...1,488,944
Ensembl chr16:1,485,886...1,488,981 		JBrowse link
G RAB26 RAB26, member RAS oncogene family IAGP ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:25741868 NCBI chr16:2,148,144...2,154,165
Ensembl chr16:2,140,803...2,154,165 		JBrowse link
G RAB40C RAB40C, member RAS oncogene family IAGP ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr16:589,357...629,268
Ensembl chr16:589,357...629,272 		JBrowse link
G RHBDL1 rhomboid like 1 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr16:675,671...678,268
Ensembl chr16:675,671...678,268 		JBrowse link
G RHOT2 ras homolog family member T2 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr16:668,083...674,174
Ensembl chr16:668,100...674,174 		JBrowse link
G RNF151 ring finger protein 151 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:10205261 PMID:16114042 PMID:17287951 PMID:17304050 PMID:20498439 More... NCBI chr16:1,966,856...1,968,949
Ensembl chr16:1,966,823...1,968,975 		JBrowse link
G RPL3L ribosomal protein L3 like IAGP ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:10205261 PMID:16114042 PMID:17287951 PMID:17304050 PMID:20498439 More... NCBI chr16:1,943,974...1,954,689
Ensembl chr16:1,943,974...1,957,606 		JBrowse link
G RPS2 ribosomal protein S2 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:10205261 PMID:16114042 PMID:17287951 PMID:17304050 PMID:20498439 More... NCBI chr16:1,962,058...1,964,826
Ensembl chr16:1,962,058...1,964,841 		JBrowse link
G RPUSD1 RNA pseudouridine synthase domain containing 1 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr16:784,974...788,381
Ensembl chr16:784,974...788,397 		JBrowse link
G SERPINC1 serpin family C member 1 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:21264449 PMID:23932013 PMID:25298121 PMID:28492532 NCBI chr 1:173,903,800...173,917,327
Ensembl chr 1:173,903,800...173,917,327 		JBrowse link
G SNHG19 small nucleolar RNA host gene 19 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:25741868 NCBI chr16:2,154,782...2,155,358
Ensembl chr16:2,154,792...2,155,405 		JBrowse link
G SNHG9 small nucleolar RNA host gene 9 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:10205261 PMID:16114042 PMID:17287951 PMID:17304050 PMID:20498439 More... NCBI chr16:1,964,996...1,965,504
Ensembl chr16:1,964,895...1,965,509 		JBrowse link
G SNORA10 small nucleolar RNA, H/ACA box 10 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:25741868 NCBI chr16:1,962,334...1,962,466
Ensembl chr16:1,962,334...1,962,466 		JBrowse link
G SNORA64 small nucleolar RNA, H/ACA box 64 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:25741868 NCBI chr16:1,962,973...1,963,106
Ensembl chr16:1,962,973...1,963,106 		JBrowse link
G SNORA78 small nucleolar RNA, H/ACA box 78 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:25741868 NCBI chr16:1,965,184...1,965,310
Ensembl chr16:1,965,184...1,965,310 		JBrowse link
G SNORD60 small nucleolar RNA, C/D box 60 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:25741868 NCBI chr16:2,155,023...2,155,105
Ensembl chr16:2,155,023...2,155,105 		JBrowse link
G SOX8 SRY-box transcription factor 8 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr16:981,770...986,979
Ensembl chr16:981,444...986,979 		JBrowse link
G SPSB3 splA/ryanodine receptor domain and SOCS box containing 3 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:20498439 PMID:28492532 PMID:29932062 NCBI chr16:1,776,712...1,782,571
Ensembl chr16:1,776,712...1,793,700 		JBrowse link
G SSTR5 somatostatin receptor 5 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr16:1,072,747...1,081,454
Ensembl chr16:1,063,867...1,081,454 		JBrowse link
G STUB1 STIP1 homology and U-box containing protein 1 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr16:680,410...682,801
Ensembl chr16:680,224...682,870 		JBrowse link
G SYNGR3 synaptogyrin 3 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:10205261 PMID:16114042 PMID:17287951 PMID:17304050 PMID:20498439 More... NCBI chr16:1,989,970...1,994,275
Ensembl chr16:1,989,660...1,994,275 		JBrowse link
G TBL3 transducin beta like 3 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:10205261 PMID:16114042 PMID:17287951 PMID:17304050 PMID:20498439 More... NCBI chr16:1,972,053...1,982,929
Ensembl chr16:1,972,053...1,982,929 		JBrowse link
G TELO2 telomere maintenance 2 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr16:1,493,360...1,510,454
Ensembl chr16:1,493,344...1,510,457 		JBrowse link
G TMEM204 transmembrane protein 204 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:20498439 PMID:28492532 PMID:29932062 NCBI chr16:1,528,678...1,555,568
Ensembl chr16:1,528,688...1,555,580 		JBrowse link
G TPSAB1 tryptase alpha/beta 1 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr16:1,240,705...1,242,554
Ensembl chr16:1,239,266...1,242,554 		JBrowse link
G TPSB2 tryptase beta 2 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr16:1,228,336...1,230,184
Ensembl chr16:1,227,272...1,232,757 		JBrowse link
G TPSD1 tryptase delta 1 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr16:1,256,069...1,259,008
Ensembl chr16:1,256,059...1,259,008 		JBrowse link
G TPSG1 tryptase gamma 1 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr16:1,221,651...1,225,268
Ensembl chr16:1,221,651...1,225,793 		JBrowse link
G TRAF7 TNF receptor associated factor 7 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:25741868 NCBI chr16:2,155,782...2,178,129
Ensembl chr16:2,155,698...2,178,129 		JBrowse link
G TSC2 TSC complex subunit 2 IAGP
EXP		 ClinVar Annotator: match by term: Tuberous sclerosis 2
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:3 PMID:1112665 PMID:1520333 PMID:1870099 PMID:2039137 More... NCBI chr16:2,047,985...2,089,491
Ensembl chr16:2,047,967...2,089,491 		JBrowse link
G TSR3 TSR3 ribosome maturation factor IAGP ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr16:1,349,240...1,351,878
Ensembl chr16:1,349,240...1,351,878 		JBrowse link
G UBE2I ubiquitin conjugating enzyme E2 I IAGP ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr16:1,309,152...1,327,017
Ensembl chr16:1,291,444...1,327,018 		JBrowse link
G UNKL unk like zinc finger IAGP ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr16:1,363,205...1,414,704
Ensembl chr16:1,363,205...1,414,751 		JBrowse link
G UQCC4 ubiquinol-cytochrome c reductase complex assembly factor 4 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr16:1,419,752...1,420,747
Ensembl chr16:1,419,752...1,420,756 		JBrowse link
G WDR24 WD repeat domain 24 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr16:684,622...690,398
Ensembl chr16:684,622...690,444 		JBrowse link
G WDR90 WD repeat domain 90 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr16:648,979...667,830
Ensembl chr16:649,311...667,833 		JBrowse link
G WFIKKN1 WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 1 IAGP ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr16:630,985...634,117
Ensembl chr16:629,239...634,117 		JBrowse link
G ZNF598 zinc finger protein 598, E3 ubiquitin ligase IAGP ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:10205261 PMID:16114042 PMID:17287951 PMID:17304050 PMID:20498439 More... NCBI chr16:1,997,654...2,009,821
Ensembl chr16:1,997,654...2,009,821 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 35754
    syndrome 18145
      Neurocutaneous Syndromes 465
        tuberous sclerosis 246
          Polycystic Kidneys, Severe Infantile with Tuberous Sclerosis 0
          tuberous sclerosis 1 111
          tuberous sclerosis 2 132
Path 2
Term Annotations click to browse term
  disease 35754
    disease of anatomical entity 32493
      nervous system disease 26373
        Neurologic Manifestations 15411
          sensory system disease 9761
            skin disease 4885
              Genetic Skin Diseases 2473
                ectodermal dysplasia 746
                  Neurocutaneous Syndromes 465
                    tuberous sclerosis 246
                      Polycystic Kidneys, Severe Infantile with Tuberous Sclerosis 0
                      tuberous sclerosis 1 111
                      tuberous sclerosis 2 132
paths to the root