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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:Autosomal dominant neurocutaneous syndrome classically characterized by MENTAL RETARDATION; EPILEPSY; and skin lesions (e.g., adenoma sebaceum and hypomelanotic macules). There is, however, considerable heterogeneity in the neurologic manifestations. It is also associated with cortical tuber and HAMARTOMAS formation throughout the body, especially the heart, kidneys, and eyes. Mutations in two loci TSC1 and TSC2 that encode hamartin and tuberin, respectively, are associated with the disease.
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 Scleroses;   Cerebral Sclerosis;   Epiloia;   Sclerosis Tuberosa;   TS;   TSC;   adenoma sebaceum;   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.


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tuberous sclerosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmp4 bone morphogenetic protein 4 ISO protein:decreased expression, altered localization:cerebral cortex: RGD PMID:22752548 RGD:9068443 NCBI chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306 		JBrowse link
G Eif4ebp1 eukaryotic translation initiation factor 4E binding protein 1 treatment IDA RGD PMID:12384518 RGD:1549429 NCBI chr16:64,792,595...64,805,984
Ensembl chr16:64,790,226...64,805,984 		JBrowse link
G Flna filamin A ISO protein:increased expression:prefrontal cortex (human) RGD PMID:25277454 RGD:11565117 NCBI chr  X:152,007,758...152,034,266
Ensembl chr  X:152,007,758...152,031,052 		JBrowse link
G Ifng interferon gamma ISO CTD Direct Evidence: therapeutic CTD PMID:16845661 NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:cerebral cortex RGD PMID:22459050 RGD:8547829 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120 		JBrowse link
G Pkd1 polycystin 1, transient receptor potential channel interacting ISO ClinVar Annotator: match by term: Tuberous sclerosis syndrome ClinVar NCBI chr10:13,573,779...13,621,138
Ensembl chr10:13,573,021...13,621,128 		JBrowse link
G Tsc1 TSC complex subunit 1 susceptibility ISO DNA:nonsense mutations, deletion: :multiple
ClinVar Annotator: match by term: Tuberous sclerosis syndrome
DNA:nonsense mutation:exon:p.R509X (c.1525C>T) (human)
DNA:deletions, duplication, point mutation:exon, intron:multiple
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Tuberous sclerosis syndrome, UMLS OMIM term: TUBEROSE SCLEROSIS		 ClinVar
RGD
CTD		 PMID:9242607 PMID:9328481 PMID:9536098 PMID:9803264 PMID:9863590 More... RGD:1624196, RGD:1624196, RGD:11073512, RGD:11570511, RGD:11062248 NCBI chr 3:11,969,547...12,018,591
Ensembl chr 3:11,979,729...12,015,674 		JBrowse link
G Tsc2 TSC complex subunit 2 ISO ClinVar Annotator: match by term: Tuberous sclerosis syndrome, UMLS OMIM term: TUBEROSE SCLEROSIS
ClinVar Annotator: match by term: Cortical tubers
DNA:mutations:exon, intron:multiple
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:1112665 PMID:1870099 PMID:2039137 PMID:2139039 PMID:4461062 More... RGD:11062248, RGD:11568672 NCBI chr10:13,621,135...13,655,773
Ensembl chr10:13,621,136...13,655,951 		JBrowse link
tuberous sclerosis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abo ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 3:10,162,087...10,182,835
Ensembl chr 3:10,162,096...10,191,423 		JBrowse link
G Adamts13 ADAM metallopeptidase with thrombospondin type 1 motif, 13 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 3:10,299,264...10,338,464
Ensembl chr 3:10,300,028...10,346,687 		JBrowse link
G Adamtsl2 ADAMTS-like 2 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 3:10,397,774...10,434,557
Ensembl chr 3:10,404,626...10,434,554 		JBrowse link
G Ak8 adenylate kinase 8 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:25741868 NCBI chr 3:12,028,895...12,144,468
Ensembl chr 3:12,028,954...12,144,465 		JBrowse link
G Brd3 bromodomain containing 3 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 3:10,773,163...10,829,675
Ensembl chr 3:10,775,272...10,829,577 		JBrowse link
G Cacfd1 calcium channel flower domain containing 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 3:10,335,881...10,352,437
Ensembl chr 3:10,335,881...10,343,406 		JBrowse link
G Cel carboxyl ester lipase ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 3:11,883,532...11,891,035
Ensembl chr 3:11,883,532...11,891,035 		JBrowse link
G Dbh dopamine beta-hydroxylase ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 3:10,488,260...10,505,245
Ensembl chr 3:10,488,260...10,505,248 		JBrowse link
G Fam163b family with sequence similarity 163, member B ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 3:10,437,383...10,466,458
Ensembl chr 3:10,437,383...10,466,458 		JBrowse link
G Gbgt1 globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 (FORS blood group) ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 3:11,826,131...11,829,745 JBrowse link
G Gfi1b growth factor independent 1B transcriptional repressor ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 3:11,940,232...11,952,989
Ensembl chr 3:11,940,233...11,952,942 		JBrowse link
G Gtf3c5 general transcription factor IIIC subunit 5 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 3:11,893,867...11,914,187
Ensembl chr 3:11,893,875...11,914,180 		JBrowse link
G Med22 mediator complex subunit 22 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 3:10,233,754...10,238,836
Ensembl chr 3:10,233,754...10,238,836 		JBrowse link
G Mymk myomaker, myoblast fusion factor ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 3:10,388,361...10,397,364
Ensembl chr 3:10,388,361...10,397,343 		JBrowse link
G Ralgds ral guanine nucleotide dissociation stimulator ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 3:11,839,686...11,880,059
Ensembl chr 3:11,839,416...11,880,059 		JBrowse link
G Rexo4 REX4 homolog, 3'-5' exonuclease ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 3:10,280,654...10,291,003
Ensembl chr 3:10,280,654...10,290,996 		JBrowse link
G Rpl7a ribosomal protein L7a ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 3:10,239,026...10,241,703
Ensembl chr 3:10,239,001...10,241,716 		JBrowse link
G Sardh sarcosine dehydrogenase ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 3:10,510,553...10,575,342
Ensembl chr 3:10,510,553...10,573,874 		JBrowse link
G Slc2a6 solute carrier family 2 member 6 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 3:10,348,395...10,355,208
Ensembl chr 3:10,348,395...10,355,208 		JBrowse link
G Spaca9 sperm acrosome associated 9 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:25741868 NCBI chr 3:12,019,376...12,028,801
Ensembl chr 3:12,019,363...12,029,119 		JBrowse link
G Stkld1 serine/threonine kinase-like domain containing 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 3:10,261,583...10,280,850
Ensembl chr 3:10,261,828...10,280,566 		JBrowse link
G Surf1 SURF1, cytochrome c oxidase assembly factor ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 3:10,241,793...10,244,686
Ensembl chr 3:10,241,837...10,263,315 		JBrowse link
G Surf2 surfeit 2 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 3:10,244,654...10,248,502
Ensembl chr 3:10,244,654...10,250,077 		JBrowse link
G Surf4 surfeit 4 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 3:10,248,360...10,261,537
Ensembl chr 3:10,241,837...10,263,315 		JBrowse link
G Surf6 surfeit 6 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 3:10,221,450...10,232,306
Ensembl chr 3:10,221,452...10,232,251 		JBrowse link
G Tsc1 TSC complex subunit 1 treatment ISO ClinVar Annotator: match by term: Tuberous sclerosis 1
ClinVar Annotator: match by term: Tuberous sclerosis syndrome, UMLS OMIM term: TUBEROSE SCLEROSIS
ClinVar Annotator: match by OMIM:191100		 OMIM
ClinVar
RGD		 PMID:9242607 PMID:9328481 PMID:9536098 PMID:9803264 PMID:9863590 More... RGD:11570507 NCBI chr 3:11,969,547...12,018,591
Ensembl chr 3:11,979,729...12,015,674 		JBrowse link
G Tsc2 TSC complex subunit 2 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:10205261 PMID:17304050 PMID:21520333 PMID:25741868 PMID:28492532 NCBI chr10:13,621,135...13,655,773
Ensembl chr10:13,621,136...13,655,951 		JBrowse link
G Vav2 vav guanine nucleotide exchange factor 2 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 3:10,584,688...10,754,128
Ensembl chr 3:10,584,688...10,754,052 		JBrowse link
G Wdr5 WD repeat domain 5 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 3:10,836,964...10,856,682
Ensembl chr 3:10,837,025...10,856,671 		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 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr10:14,812,274...14,814,798
Ensembl chr10:14,812,269...14,814,193 		JBrowse link
G Baiap3 BAI1-associated protein 3 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr10:14,260,269...14,273,019
Ensembl chr10:14,260,269...14,273,019 		JBrowse link
G Cacna1h calcium voltage-gated channel subunit alpha1 H ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr10:14,390,104...14,448,204
Ensembl chr10:14,390,113...14,448,376 		JBrowse link
G Ccdc154 coiled-coil domain containing 154 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr10:14,177,271...14,187,378
Ensembl chr10:14,177,278...14,187,253 		JBrowse link
G Ccdc78 coiled-coil domain containing 78 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr10:14,808,355...14,812,284
Ensembl chr10:14,807,710...14,812,282 		JBrowse link
G Chtf18 chromosome transmission fidelity factor 18 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr10:14,743,006...14,751,044
Ensembl chr10:14,742,621...14,751,050 		JBrowse link
G Ciao3 cytosolic iron-sulfur assembly component 3 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr10:14,795,888...14,804,953
Ensembl chr10:14,795,961...14,804,950 		JBrowse link
G Clcn7 chloride voltage-gated channel 7 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr10:14,151,758...14,177,130
Ensembl chr10:14,151,758...14,177,130 		JBrowse link
G Cramp1 cramped chromatin regulator homolog 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:20498439 PMID:28492532 PMID:29932062 NCBI chr10:13,983,781...14,032,409
Ensembl chr10:13,983,866...14,032,392 		JBrowse link
G Eme2 essential meiotic structure-specific endonuclease subunit 2 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:20498439 PMID:28492532 PMID:29932062 NCBI chr10:13,913,216...13,915,991
Ensembl chr10:13,913,221...13,915,968 		JBrowse link
G Fahd1 fumarylacetoacetate hydrolase domain containing 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:20498439 PMID:28492532 PMID:29932062 NCBI chr10:13,873,539...13,874,978
Ensembl chr10:13,873,527...13,875,012 		JBrowse link
G Fbxl16 F-box and leucine-rich repeat protein 16 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr10:14,829,453...14,841,739
Ensembl chr10:14,829,449...14,840,986 		JBrowse link
G Gfer growth factor, augmenter of liver regeneration ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:20498439 PMID:25741868 PMID:28492532 More... NCBI chr10:13,718,489...13,721,782
Ensembl chr10:13,718,489...13,720,869 		JBrowse link
G Gng13 G protein subunit gamma 13 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr10:14,741,179...14,743,083
Ensembl chr10:14,741,239...14,743,083 		JBrowse link
G Gnptg N-acetylglucosamine-1-phosphate transferase subunit gamma ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr10:14,252,186...14,257,128
Ensembl chr10:14,251,136...14,257,096 		JBrowse link
G Hagh hydroxyacyl glutathione hydrolase ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:20498439 PMID:28492532 PMID:29932062 NCBI chr10:13,874,883...13,889,527
Ensembl chr10:13,875,241...13,889,504 		JBrowse link
G Haghl hydroxyacylglutathione hydrolase-like ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr10:14,804,957...14,809,495
Ensembl chr10:14,804,997...14,807,665 		JBrowse link
G Hs3st6 heparan sulfate-glucosamine 3-sulfotransferase 6 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:20498439 PMID:25741868 PMID:28492532 More... NCBI chr10:13,781,999...13,788,133
Ensembl chr10:13,781,993...13,788,133 		JBrowse link
G Ifng interferon gamma ISO OMIM NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375 		JBrowse link
G Ift140 intraflagellar transport 140 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:20498439 PMID:28492532 PMID:29932062 NCBI chr10:14,032,665...14,121,682
Ensembl chr10:14,032,648...14,120,433 		JBrowse link
G Igfals insulin-like growth factor binding protein, acid labile subunit ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:20498439 PMID:28492532 PMID:29932062 NCBI chr10:13,897,468...13,903,920
Ensembl chr10:13,898,395...13,902,677 		JBrowse link
G Jmjd8 jumonji domain containing 8 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr10:14,848,965...14,851,881
Ensembl chr10:14,848,980...14,851,879 		JBrowse link
G Jpt2 Jupiter microtubule associated homolog 2 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:20498439 PMID:28492532 PMID:29932062 NCBI chr10:13,963,135...13,983,212
Ensembl chr10:13,963,137...13,983,170 		JBrowse link
G Lmf1 lipase maturation factor 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr10:14,597,726...14,684,071
Ensembl chr10:14,597,594...14,684,119 		JBrowse link
G LOC120095398 small nucleolar RNA SNORA64/SNORA10 family ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:25741868 NCBI chr10:13,748,139...13,748,272
Ensembl chr10:13,748,139...13,748,272 		JBrowse link
G LOC120095472 small nucleolar RNA ACA64 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:25741868 NCBI chr10:13,746,885...13,747,012
Ensembl chr10:13,746,885...13,747,012 		JBrowse link
G Mapk8ip3 mitogen-activated protein kinase 8 interacting protein 3 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:20498439 PMID:28492532 PMID:29932062 NCBI chr10:13,918,417...13,958,335
Ensembl chr10:13,918,400...13,958,273 		JBrowse link
G Mcrip2 MAPK regulated co-repressor interacting protein 2 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr10:14,883,813...14,888,784
Ensembl chr10:14,883,813...14,894,021 		JBrowse link
G Meiob meiosis specific with OB-fold ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:20498439 PMID:25741868 PMID:28492532 More... NCBI chr10:13,833,170...13,865,684
Ensembl chr10:13,833,750...13,865,046 		JBrowse link
G Metrn meteorin, glial cell differentiation regulator ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr10:14,816,684...14,818,702
Ensembl chr10:14,816,572...14,818,701 		JBrowse link
G Mettl26 methyltransferase like 26 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr10:14,894,574...14,908,067
Ensembl chr10:14,894,581...14,905,851 		JBrowse link
G Mrps34 mitochondrial ribosomal protein S34 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:20498439 PMID:28492532 PMID:29932062 NCBI chr10:13,916,024...13,917,155
Ensembl chr10:13,916,026...13,918,406 		JBrowse link
G Msln mesothelin ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr10:14,771,946...14,781,382
Ensembl chr10:14,771,961...14,777,643 		JBrowse link
G Msrb1 methionine sulfoxide reductase B1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:20498439 PMID:25741868 PMID:28492532 More... NCBI chr10:13,764,883...13,770,609
Ensembl chr10:13,764,883...13,770,609 		JBrowse link
G Ndufb10 NADH:ubiquinone oxidoreductase subunit B10 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:20498439 PMID:25741868 PMID:28492532 More... NCBI chr10:13,749,273...13,751,434
Ensembl chr10:13,749,275...13,751,442 		JBrowse link
G Nme3 NME/NM23 nucleoside diphosphate kinase 3 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:20498439 PMID:28492532 PMID:29932062 NCBI chr10:13,917,309...13,918,415
Ensembl chr10:13,917,403...13,918,359 		JBrowse link
G Noxo1 NADPH oxidase organizer 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:20498439 PMID:25741868 PMID:28492532 More... NCBI chr10:13,721,473...13,726,061
Ensembl chr10:13,721,473...13,726,061 		JBrowse link
G Npw neuropeptide W ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:20498439 PMID:25741868 PMID:28492532 More... NCBI chr10:13,680,275...13,681,618
Ensembl chr10:13,680,321...13,681,586 		JBrowse link
G Nthl1 nth-like DNA glycosylase 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:10205261 PMID:16114042 PMID:17287951 PMID:17304050 PMID:20498439 More... NCBI chr10:13,655,791...13,661,958
Ensembl chr10:13,655,785...13,661,957 		JBrowse link
G Nubp2 NUBP iron-sulfur cluster assembly factor 2 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:20498439 PMID:28492532 PMID:29932062 NCBI chr10:13,903,224...13,906,928
Ensembl chr10:13,903,224...13,906,969 		JBrowse link
G Pigq phosphatidylinositol glycan anchor biosynthesis, class Q ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr10:14,942,571...14,958,584
Ensembl chr10:14,942,577...14,958,584 		JBrowse link
G Pkd1 polycystin 1, transient receptor potential channel interacting ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:9328481 PMID:10205261 PMID:11112665 PMID:16114042 PMID:17287951 More... NCBI chr10:13,573,779...13,621,138
Ensembl chr10:13,573,021...13,621,128 		JBrowse link
G Ptx4 pentraxin 4 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr10:14,140,028...14,146,163
Ensembl chr10:14,140,304...14,144,846 		JBrowse link
G Rab40c Rab40c, member RAS oncogene family ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr10:14,900,926...14,936,165
Ensembl chr10:14,900,929...14,936,557 		JBrowse link
G RGD1565784 RGD1565784 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr10:14,202,217...14,203,519
Ensembl chr10:14,202,243...14,204,029 		JBrowse link
G Rhbdl1 rhomboid like 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr10:14,854,514...14,858,848
Ensembl chr10:14,854,514...14,857,430 		JBrowse link
G Rhot2 ras homolog family member T2 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr10:14,858,954...14,864,751
Ensembl chr10:14,858,956...14,864,751 		JBrowse link
G Rnf151 ring finger protein 151 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:20498439 PMID:25741868 PMID:28492532 More... NCBI chr10:13,742,682...13,747,192
Ensembl chr10:13,742,682...13,745,000 		JBrowse link
G Rpl3l ribosomal protein L3-like ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:20498439 PMID:25741868 PMID:28492532 More... NCBI chr10:13,753,914...13,764,458
Ensembl chr10:13,753,886...13,764,457 		JBrowse link
G Rps2 ribosomal protein S2 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:20498439 PMID:25741868 PMID:28492532 More... NCBI chr10:13,747,316...13,749,165
Ensembl chr10:13,747,301...13,749,163 		JBrowse link
G Rpusd1 RNA pseudouridine synthase domain containing 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr10:14,751,310...14,755,213
Ensembl chr10:14,751,384...14,755,207 		JBrowse link
G Slc9a3r2 SLC9A3 regulator 2 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:20498439 PMID:25741868 PMID:28492532 More... NCBI chr10:13,662,461...13,672,975
Ensembl chr10:13,662,461...13,673,049 		JBrowse link
G Sox8 SRY-box transcription factor 8 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr10:14,584,829...14,589,818
Ensembl chr10:14,584,829...14,589,818 		JBrowse link
G Spsb3 splA/ryanodine receptor domain and SOCS box containing 3 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:20498439 PMID:28492532 PMID:29932062 NCBI chr10:13,907,175...13,912,841
Ensembl chr10:13,907,253...13,912,841 		JBrowse link
G Sstr5 somatostatin receptor 5 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr10:14,506,868...14,512,946
Ensembl chr10:14,506,868...14,512,946 		JBrowse link
G Stub1 STIP1 homology and U-box containing protein 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr10:14,850,765...14,853,046
Ensembl chr10:14,850,765...14,853,046 		JBrowse link
G Syngr3 synaptogyrin 3 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:20498439 PMID:25741868 PMID:28492532 More... NCBI chr10:13,710,553...13,715,312
Ensembl chr10:13,704,998...13,715,669 		JBrowse link
G Tbl3 transducin (beta)-like 3 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:20498439 PMID:25741868 PMID:28492532 More... NCBI chr10:13,726,127...13,731,340
Ensembl chr10:13,726,129...13,731,372 		JBrowse link
G Telo2 telomere maintenance 2 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr10:14,120,491...14,135,729
Ensembl chr10:14,120,818...14,135,698 		JBrowse link
G Tmem204 transmembrane protein 204 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:20498439 PMID:28492532 PMID:29932062 NCBI chr10:14,076,518...14,104,849
Ensembl chr10:14,076,519...14,101,920 		JBrowse link
G Tpsab1 tryptase alpha/beta 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr10:14,360,396...14,362,811
Ensembl chr10:14,360,396...14,362,811 		JBrowse link
G Tpsb2 tryptase beta 2 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr10:14,381,779...14,383,571
Ensembl chr10:14,382,013...14,383,569 		JBrowse link
G Tpsg1 tryptase gamma 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr10:14,386,352...14,390,258
Ensembl chr10:14,386,352...14,390,258 		JBrowse link
G Tsc2 TSC complex subunit 2 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:613254		 OMIM
ClinVar
CTD		 PMID:1112665 PMID:1870099 PMID:2039137 PMID:2139039 PMID:4461062 More... NCBI chr10:13,621,135...13,655,773
Ensembl chr10:13,621,136...13,655,951 		JBrowse link
G Tsr3 TSR3 ribosome maturation factor ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr10:14,257,150...14,259,712
Ensembl chr10:14,257,171...14,259,561 		JBrowse link
G Ube2i ubiquitin-conjugating enzyme E2I ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr10:14,277,749...14,294,681
Ensembl chr10:69,701,618...69,702,443
Ensembl chr10:69,701,618...69,702,443 		JBrowse link
G Unkl unk like zinc finger ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr10:14,206,125...14,252,226
Ensembl chr10:14,206,189...14,252,225 		JBrowse link
G Wdr24 WD repeat domain 24 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr10:14,844,089...14,848,871
Ensembl chr10:14,843,728...14,848,864 		JBrowse link
G Wdr90 WD repeat domain 90 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr10:14,864,672...14,881,285
Ensembl chr10:14,864,670...14,881,292 		JBrowse link
G Wfikkn1 WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr10:14,896,442...14,898,770
Ensembl chr10:14,896,378...14,899,863 		JBrowse link
G Zfp598 zinc finger protein 598 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:20498439 PMID:25741868 PMID:28492532 More... NCBI chr10:13,694,224...13,706,235
Ensembl chr10:13,694,286...13,706,233 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17445
    syndrome 8267
      Neurocutaneous Syndromes 257
        tuberous sclerosis 103
          Polycystic Kidneys, Severe Infantile with Tuberous Sclerosis 0
          Renal TSC2 Angiomyolipomas, Modifier of 0
          tuberous sclerosis 1 29
          tuberous sclerosis 2 71
Path 2
Term Annotations click to browse term
  disease 17445
    Developmental Disease 11029
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9553
        genetic disease 9078
          monogenic disease 7230
            autosomal genetic disease 6357
              autosomal dominant disease 4483
                complex cortical dysplasia with other brain malformations 1153
                  Malformations of Cortical Development, Group I 1062
                    tuberous sclerosis 103
                      Polycystic Kidneys, Severe Infantile with Tuberous Sclerosis 0
                      Renal TSC2 Angiomyolipomas, Modifier of 0
                      tuberous sclerosis 1 29
                      tuberous sclerosis 2 71
paths to the root