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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 chr15:20,776,060...20,791,013
Ensembl chr15:20,776,054...20,822,740
JBrowse link
G Eif4ebp1 eukaryotic translation initiation factor 4E binding protein 1 treatment IDA RGD PMID:12384518 RGD:1549429 NCBI chr16:68,954,860...68,968,248
Ensembl chr16:68,954,875...68,968,248
JBrowse link
G Flna filamin A ISO protein:increased expression:prefrontal cortex (human) RGD PMID:25277454 RGD:11565117 NCBI chr  X:156,460,785...156,487,245
Ensembl chr  X:156,463,953...156,487,245
JBrowse link
G Ifng interferon gamma ISO CTD Direct Evidence: therapeutic CTD PMID:16845661 NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:cerebral cortex RGD PMID:22459050 RGD:8547829 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
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:9803264, PMID:9863590, PMID:9924605, PMID:10090883, PMID:10205261, PMID:10227394, PMID:10330349, PMID:10340649, PMID:10353610, PMID:10363127, PMID:10533066, PMID:10533067, PMID:10533069, PMID:10570911, PMID:10607950, PMID:10874311, PMID:11112665, PMID:11208653, PMID:11329144, PMID:11774213, PMID:12015165, PMID:12111193, PMID:12112044, PMID:12773163, PMID:12853839, PMID:14551205, PMID:14633685, PMID:14642745, PMID:14756965, PMID:15121797, PMID:15236319, PMID:15798777, PMID:16114042, PMID:16554133, PMID:16981987, PMID:17304050, PMID:18032745, PMID:18345974, PMID:18397877, PMID:18414213, PMID:18772611, PMID:18830229, PMID:18854862, PMID:19139070, PMID:19175396, PMID:19254590, PMID:19419980, PMID:19747374, PMID:19918125, PMID:20165957, PMID:20185476, PMID:20399389, PMID:20498439, PMID:20547222, PMID:20633017, PMID:21062901, PMID:21309039, PMID:21345208, PMID:21510812, PMID:21520333, PMID:21624971, PMID:21811971, PMID:22161988, PMID:22490766, PMID:22558107, PMID:22703879, PMID:22707517, PMID:22791573, PMID:22867869, PMID:22903760, PMID:22923433, PMID:22995991, PMID:23254740, PMID:23341583, PMID:23389244, PMID:23401075, PMID:23514105, PMID:23857276, PMID:24033266, PMID:24633152, PMID:24728327, PMID:24789117, PMID:25077650, PMID:25326635, PMID:25498131, PMID:25525159, PMID:25741868, PMID:25900779, PMID:26231267, PMID:26332594, PMID:26467025, PMID:26540169, PMID:27153395, PMID:27425891, PMID:27470532, PMID:27494029, PMID:27600092, PMID:28065512, PMID:28087349, PMID:28291513, PMID:28492532, PMID:28968464, PMID:29101226, PMID:29127155, PMID:29196670, PMID:29221145, PMID:29286531, PMID:29432982, PMID:29458892, PMID:29706646, PMID:29740858, PMID:29932062, PMID:30311386, PMID:30581017, PMID:32238909, PMID:9242607, PMID:25900779, PMID:21403402, PMID:16114042 RGD:1624196, RGD:1624196, RGD:11073512, RGD:11570511, RGD:11062248 NCBI chr 3:7,219,955...7,269,063
Ensembl chr 3:7,237,192...7,265,145
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
PMID:1112665, PMID:1870099, PMID:2139039, PMID:4461062, PMID:5279523, PMID:7581393, PMID:7823706, PMID:8634701, PMID:8824881, PMID:8825048, PMID:9076719, PMID:9242607, PMID:9285776, PMID:9302281, PMID:9328481, PMID:9361032, PMID:9412784, PMID:9452050, PMID:9463313, PMID:9813776, PMID:9829910, PMID:9881533, PMID:10069705, PMID:10090883, PMID:10205261, PMID:10206124, PMID:10215407, PMID:10330349, PMID:10533066, PMID:10533067, PMID:10570911, PMID:10577937, PMID:10607950, PMID:10633137, PMID:10732801, PMID:10735580, PMID:10823953, PMID:10905251, PMID:10942116, PMID:11068191, PMID:11112665, PMID:11208653, PMID:11290735, PMID:11403047, PMID:11437991, PMID:11468687, PMID:11520734, PMID:11521203, PMID:11603814, PMID:11741832, PMID:11741833, PMID:11810271, PMID:11829138, PMID:12015165, PMID:12062115, PMID:12086608, PMID:12111193, PMID:12136241, PMID:12235314, PMID:12752578, PMID:12906785, PMID:12913212, PMID:14508401, PMID:14641237, PMID:14718525, PMID:14756965, PMID:14993219, PMID:15024740, PMID:15072102, PMID:15121797, PMID:15483652, PMID:15595939, PMID:15712319, PMID:15798777, PMID:15874888, PMID:15963462, PMID:16032769, PMID:16042315, PMID:16114042, PMID:16129702, PMID:16237225, PMID:16417848, PMID:16464865, PMID:16554133, PMID:16877242, PMID:16981987, PMID:17003820, PMID:17034546, PMID:17120248, PMID:17304050, PMID:17536269, PMID:17681840, PMID:18032745, PMID:18302728, PMID:18308511, PMID:18345974, PMID:18410267, PMID:18411301, PMID:18414213, PMID:18550814, PMID:18772611, PMID:18792920, PMID:18854862, PMID:19254590, PMID:19258292, PMID:19259131, PMID:19369101, PMID:19419980, PMID:19747374, PMID:20108343, PMID:20165957, PMID:20399389, PMID:20498439, PMID:20633017, PMID:21062901, PMID:21115397, PMID:21182496, PMID:21309039, PMID:21332470, PMID:21345208, PMID:21403110, PMID:21407264, PMID:21418539, PMID:21510812, PMID:21520333, PMID:21567926, PMID:21624971, PMID:21811971, PMID:21846442, PMID:21910228, PMID:22161988, PMID:22490766, PMID:22552000, PMID:22558107, PMID:22703879, PMID:22805177, PMID:22867869, PMID:22903760, PMID:22995991, PMID:23006675, PMID:23217510, PMID:23254740, PMID:23389244, PMID:23504366, PMID:23514105, PMID:23955302, PMID:24033266, PMID:24055113, PMID:24271014, PMID:24412076, PMID:24728327, PMID:24789117, PMID:25039834, PMID:25058500, PMID:25088526, PMID:25203624, PMID:25231023, PMID:25281918, PMID:25338684, PMID:25432535, PMID:25498131, PMID:25525159, PMID:25599672, PMID:25637381, PMID:25741868, PMID:25782670, PMID:25862857, PMID:25911330, PMID:25927202, PMID:26155992, PMID:26332594, PMID:26467025, PMID:26489027, PMID:26540169, PMID:26633542, PMID:26703369, PMID:26706013, PMID:27078846, PMID:27153395, PMID:27174333, PMID:27176796, PMID:27406250, PMID:27493206, PMID:27494029, PMID:27600092, PMID:27854218, PMID:27859028, PMID:27884173, PMID:28065512, PMID:28087349, PMID:28127866, PMID:28149746, PMID:28178598, PMID:28211972, PMID:28250423, PMID:28397210, PMID:28409891, PMID:28492532, PMID:28505269, PMID:28600779, PMID:28968464, PMID:29101226, PMID:29167182, PMID:29196670, PMID:29271092, PMID:29344138, PMID:29476190, PMID:29500070, PMID:29642139, PMID:29801666, PMID:30024541, PMID:30311386, PMID:32581362, PMID:32860008, PMID:16114042, PMID:9007104 RGD:11062248, RGD:11568672 NCBI chr10:13,962,006...13,996,684
Ensembl chr10:13,961,947...13,996,584
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 3:4,374,679...4,394,374
Ensembl chr 3:4,374,602...4,394,428
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 3:5,519,921...5,558,390
Ensembl chr 3:5,519,990...5,558,166
JBrowse link
G Adamtsl2 ADAMTS-like 2 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 3:5,624,473...5,654,890
Ensembl chr 3:5,624,506...5,654,910
JBrowse link
G Ak8 adenylate kinase 8 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:25741868 NCBI chr 3:7,279,429...7,394,509
Ensembl chr 3:7,279,340...7,394,513
JBrowse link
G Brd3 bromodomain containing 3 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 3:5,995,204...6,054,467
Ensembl chr 3:5,997,315...6,054,483
JBrowse link
G Cacfd1 calcium channel flower domain containing 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 3:5,555,807...5,571,205
Ensembl chr 3:5,555,807...5,572,064
JBrowse link
G Cel carboxyl ester lipase ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 3:7,134,021...7,141,522
Ensembl chr 3:7,134,021...7,141,522
JBrowse link
G Dbh dopamine beta-hydroxylase ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 3:5,709,236...5,731,895
Ensembl chr 3:5,709,236...5,731,898
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 3:5,656,400...5,693,273
Ensembl chr 3:5,656,163...5,693,147
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 3:7,076,582...7,079,652 JBrowse link
G Gfi1b growth factor independent 1B transcriptional repressor ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 3:7,190,721...7,203,444
Ensembl chr 3:7,190,722...7,203,420
JBrowse link
G Gtf3c5 general transcription factor IIIC subunit 5 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 3:7,144,354...7,164,678
Ensembl chr 3:7,144,250...7,164,654
JBrowse link
G Med22 mediator complex subunit 22 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 3:5,453,678...5,458,760
Ensembl chr 3:5,453,614...5,458,782
JBrowse link
G Mymk myomaker, myoblast fusion factor ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 3:5,608,243...5,617,689
Ensembl chr 3:5,608,243...5,617,225
JBrowse link
G Ralgds ral guanine nucleotide dissociation stimulator ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 3:7,090,134...7,130,548
Ensembl chr 3:7,109,920...7,130,548
JBrowse link
G Rexo4 REX4 homolog, 3'-5' exonuclease ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 3:5,500,578...5,510,908
Ensembl chr 3:5,500,589...5,510,908
JBrowse link
G Rpl7a ribosomal protein L7a ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 3:5,458,985...5,461,627
Ensembl chr 3:5,459,160...5,461,583
Ensembl chr 3:5,459,160...5,461,583
JBrowse link
G Sardh sarcosine dehydrogenase ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 3:5,737,203...5,802,153
Ensembl chr 3:5,737,200...5,802,129
JBrowse link
G Slc2a6 solute carrier family 2 member 6 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 3:5,567,729...5,575,144
Ensembl chr 3:5,568,321...5,575,136
JBrowse link
G Spaca9 sperm acrosome associated 9 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:25741868 NCBI chr 3:7,269,851...7,279,253
Ensembl chr 3:7,269,853...7,278,758
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 3:5,481,524...5,500,568
Ensembl chr 3:5,481,522...5,500,583
JBrowse link
G Surf1 SURF1, cytochrome c oxidase assembly factor ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 3:5,461,717...5,464,560
Ensembl chr 3:4,869,795...4,872,632
JBrowse link
G Surf2 surfeit 2 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 3:5,464,593...5,468,426
Ensembl chr 3:5,464,424...5,468,244
JBrowse link
G Surf4 surfeit 4 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 3:5,468,284...5,481,447
Ensembl chr 3:5,461,770...5,483,239
JBrowse link
G Surf6 surfeit 6 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 3:5,441,404...5,452,156
Ensembl chr 3:5,441,409...5,452,156
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
PMID:9242607, PMID:9328481, PMID:9803264, PMID:9863590, PMID:9924605, PMID:10090883, PMID:10227394, PMID:10330349, PMID:10340649, PMID:10353610, PMID:10363127, PMID:10533066, PMID:10533067, PMID:10533069, PMID:10570911, PMID:10607950, PMID:10874311, PMID:11112665, PMID:11208653, PMID:11281455, PMID:11329144, PMID:11774213, PMID:12015165, PMID:12111193, PMID:12112044, PMID:12773163, PMID:12853839, PMID:14551205, PMID:14633685, PMID:14642745, PMID:14756965, PMID:15121797, PMID:15236319, PMID:15595939, PMID:15769473, PMID:15798777, PMID:16114042, PMID:16225402, PMID:16554133, PMID:16981987, PMID:17287951, PMID:17304050, PMID:18032745, PMID:18397877, PMID:18414213, PMID:18772611, PMID:18830229, PMID:18854862, PMID:19139070, PMID:19175396, PMID:19254590, PMID:19419980, PMID:19747374, PMID:19763152, PMID:19918125, PMID:20082901, PMID:20165957, PMID:20185476, PMID:20307669, PMID:20399389, PMID:20547222, PMID:20633017, PMID:20877415, PMID:21309039, PMID:21510812, PMID:21520333, PMID:21624971, PMID:21811971, PMID:22161988, PMID:22406018, PMID:22490766, PMID:22558107, PMID:22703879, PMID:22707517, PMID:22791573, PMID:22867869, PMID:22903760, PMID:22923433, PMID:22995991, PMID:23254740, PMID:23341583, PMID:23389244, PMID:23401075, PMID:23514105, PMID:23647917, PMID:23728315, PMID:23857276, PMID:23999528, PMID:24033266, PMID:24633152, PMID:24714658, PMID:24728327, PMID:24789117, PMID:25077650, PMID:25326635, PMID:25498131, PMID:25525159, PMID:25741868, PMID:25782670, PMID:25889454, PMID:25900779, PMID:25927202, PMID:26226092, PMID:26231267, PMID:26332594, PMID:26467025, PMID:26540169, PMID:26563443, PMID:26615199, PMID:27061015, PMID:27153395, PMID:27174333, PMID:27406250, PMID:27425891, PMID:27470532, PMID:27494029, PMID:27600092, PMID:28065512, PMID:28087349, PMID:28215400, PMID:28250423, PMID:28492532, PMID:28762286, PMID:28968464, PMID:29101226, PMID:29127155, PMID:29196670, PMID:29221145, PMID:29261847, PMID:29286531, PMID:29432982, PMID:29458892, PMID:29476190, PMID:29619247, PMID:29706646, PMID:29740858, PMID:29909963, PMID:29932062, PMID:30311386, PMID:32238909, PMID:26019056 RGD:11570507 NCBI chr 3:7,219,955...7,269,063
Ensembl chr 3:7,237,192...7,265,145
JBrowse link
G Tsc2 TSC complex subunit 2 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:25741868 NCBI chr10:13,962,006...13,996,684
Ensembl chr10:13,961,947...13,996,584
JBrowse link
G Vav2 vav guanine nucleotide exchange factor 2 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 3:5,811,504...5,976,311
Ensembl chr 3:5,811,504...5,976,244
JBrowse link
G Wdr5 WD repeat domain 5 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 3:6,061,892...6,080,724
Ensembl chr 3:6,061,940...6,080,680
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 chr10:15,160,037...15,161,895
Ensembl chr10:15,159,803...15,161,938
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 chr10:14,601,133...14,613,881
Ensembl chr10:14,599,197...14,613,878
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 chr10:14,730,932...14,789,201
Ensembl chr10:14,730,941...14,788,617
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 chr10:14,518,240...14,529,920
Ensembl chr10:14,519,164...14,528,277
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 chr10:15,155,839...15,160,039
Ensembl chr10:15,156,207...15,159,894
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 chr10:15,090,762...15,098,825
Ensembl chr10:15,090,316...15,098,791
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 chr10:15,143,732...15,152,706
Ensembl chr10:15,143,713...15,153,396
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 chr10:14,492,844...14,518,167
Ensembl chr10:14,492,844...14,516,894
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 chr10:14,324,799...14,373,413
Ensembl chr10:14,326,802...14,373,334
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 chr10:14,253,552...14,257,017
Ensembl chr10:14,254,252...14,256,930
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 chr10:14,214,518...14,215,957
Ensembl chr10:14,214,519...14,215,957
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 chr10:15,176,489...15,188,729
Ensembl chr10:15,183,803...15,186,978
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:28492532, PMID:29932062 NCBI chr10:14,059,347...14,061,703
Ensembl chr10:14,059,347...14,061,703
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 chr10:15,088,935...15,090,839
Ensembl chr10:15,088,935...15,090,839
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 chr10:14,593,050...14,597,995
Ensembl chr10:14,593,056...14,597,969
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 chr10:14,215,913...14,230,506
Ensembl chr10:14,216,155...14,230,515
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 chr10:15,152,736...15,157,221
Ensembl chr10:15,152,709...15,155,412
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:28492532, PMID:29932062 NCBI chr10:14,122,856...14,128,984
Ensembl chr10:14,122,878...14,128,983
JBrowse link
G Ifng interferon gamma ISO OMIM NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
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 chr10:14,373,668...14,461,509
Ensembl chr10:14,373,679...14,461,160
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 chr10:14,240,308...14,243,554
Ensembl chr10:14,240,219...14,243,597
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 chr10:15,195,954...15,198,870
Ensembl chr10:15,195,969...15,198,868
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 chr10:14,304,108...14,324,170
Ensembl chr10:14,304,104...14,324,211
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 chr10:14,945,185...15,031,855
Ensembl chr10:14,945,265...15,031,942
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 chr10:14,259,394...14,299,276
Ensembl chr10:14,260,787...14,299,167
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 chr10:15,230,801...15,235,740
Ensembl chr10:15,230,801...15,235,740
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:28492532, PMID:29932062 NCBI chr10:14,174,645...14,206,026
Ensembl chr10:14,174,732...14,206,025
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 chr10:15,164,439...15,166,457
Ensembl chr10:15,164,439...15,166,457
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 chr10:15,239,753...15,255,054
Ensembl chr10:15,241,590...15,252,413
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 chr10:14,257,001...14,258,132
Ensembl chr10:14,257,001...14,258,132
JBrowse link
G Msln mesothelin ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042, PMID:17287951, PMID:28492532, PMID:29932062 NCBI chr10:15,119,700...15,129,129
Ensembl chr10:15,119,663...15,125,408
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:28492532, PMID:29932062 NCBI chr10:14,105,750...14,111,463
Ensembl chr10:14,105,750...14,111,463
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:28492532, PMID:29932062 NCBI chr10:14,090,128...14,092,289
Ensembl chr10:14,090,128...14,092,289
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 chr10:14,258,232...14,259,365
Ensembl chr10:14,258,380...14,259,336
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:28492532, PMID:29932062 NCBI chr10:14,062,331...14,066,918
Ensembl chr10:14,062,331...14,066,918
JBrowse link
G Npw neuropeptide W ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042, PMID:17287951, PMID:20498439, PMID:28492532, PMID:29932062 NCBI chr10:14,021,187...14,022,452
Ensembl chr10:14,021,187...14,022,452
JBrowse link
G Nthl1 nth-like DNA glycosylase 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042, PMID:17287951, PMID:20498439, PMID:28492532, PMID:29932062 NCBI chr10:13,996,660...14,002,827
Ensembl chr10:13,996,645...14,002,910
JBrowse link
G Nubp2 nucleotide binding protein 2 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042, PMID:17287951, PMID:20498439, PMID:28492532, PMID:29932062 NCBI chr10:14,244,201...14,247,930
Ensembl chr10:14,244,203...14,247,886
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 chr10:15,289,530...15,305,593
Ensembl chr10:15,289,536...15,305,549
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, PMID:21520333, PMID:24789117, PMID:27406250, PMID:28492532 NCBI chr10:13,914,057...13,962,008
Ensembl chr10:13,915,214...13,962,008
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 chr10:14,481,044...14,486,277
Ensembl chr10:14,481,393...14,485,916
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 chr10:15,247,913...15,283,111
Ensembl chr10:15,247,914...15,282,951
JBrowse link
G RGD1565784 RGD1565784 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042, PMID:17287951, PMID:28492532, PMID:29932062 NCBI chr10:14,543,196...14,544,498
Ensembl chr10:14,543,200...14,545,000
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 chr10:15,201,503...15,205,856
Ensembl chr10:15,201,503...15,204,143
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 chr10:15,205,943...15,211,739
Ensembl chr10:15,205,534...15,211,325
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:28492532, PMID:29932062 NCBI chr10:14,083,538...14,088,011
Ensembl chr10:14,083,538...14,085,855
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:28492532, PMID:29932062 NCBI chr10:14,094,769...14,105,312
Ensembl chr10:14,094,754...14,105,308
JBrowse link
G Rps2 ribosomal protein S2 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042, PMID:17287951, PMID:20498439, PMID:28492532, PMID:29932062 NCBI chr10:14,088,171...14,090,020
Ensembl chr10:14,088,319...14,089,979
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 chr10:15,099,104...15,102,968
Ensembl chr10:15,099,009...15,102,960
JBrowse link
G Slc9a3r2 SLC9A3 regulator 2 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042, PMID:17287951, PMID:20498439, PMID:28492532, PMID:29932062 NCBI chr10:14,003,330...14,015,066
Ensembl chr10:14,003,320...14,013,870
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 chr10:14,932,348...14,937,336
Ensembl chr10:14,932,348...14,937,336
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 chr10:14,248,199...14,253,815
Ensembl chr10:14,248,399...14,253,815
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 chr10:14,847,749...14,853,827
Ensembl chr10:14,847,749...14,853,827
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 chr10:15,197,754...15,200,035
Ensembl chr10:15,197,803...15,200,117
JBrowse link
G Syngr3 synaptogyrin 3 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042, PMID:17287951, PMID:20498439, PMID:28492532, PMID:29932062 NCBI chr10:14,051,413...14,056,169
Ensembl chr10:14,051,415...14,056,169
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:28492532, PMID:29932062 NCBI chr10:14,066,984...14,072,197
Ensembl chr10:14,066,948...14,072,230
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 chr10:14,461,581...14,476,812
Ensembl chr10:14,461,839...14,476,785
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 chr10:14,417,608...14,446,272
Ensembl chr10:14,417,609...14,443,010
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 chr10:14,701,253...14,703,668
Ensembl chr10:14,701,253...14,703,668
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 chr10:14,722,672...14,724,464
Ensembl chr10:14,722,756...14,724,600
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 chr10:14,724,531...14,731,259
Ensembl chr10:14,727,180...14,731,086
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:2139039, PMID:4461062, PMID:5279523, PMID:7558029, PMID:7581393, PMID:7823706, PMID:8519695, PMID:8634701, PMID:8799170, PMID:8824881, PMID:8825048, PMID:9242607, PMID:9285776, PMID:9302281, PMID:9328481, PMID:9361032, PMID:9412784, PMID:9452050, PMID:9463313, PMID:9813776, PMID:9829910, PMID:9881533, PMID:10069705, PMID:10090883, PMID:10205261, PMID:10206124, PMID:10215407, PMID:10330349, PMID:10533066, PMID:10533067, PMID:10570911, PMID:10577937, PMID:10607950, PMID:10633137, PMID:10732801, PMID:10735580, PMID:10823953, PMID:10905251, PMID:10942116, PMID:11068191, PMID:11112665, PMID:11208653, PMID:11281455, PMID:11290735, PMID:11403047, PMID:11437991, PMID:11520734, PMID:11521203, PMID:11603814, PMID:11741832, PMID:11741833, PMID:11810271, PMID:11829138, PMID:12015165, PMID:12062115, PMID:12086608, PMID:12111193, PMID:12136241, PMID:12235314, PMID:12511557, PMID:12752578, PMID:12906785, PMID:12913212, PMID:14508401, PMID:14641237, PMID:14718525, PMID:14756965, PMID:14993219, PMID:15024740, PMID:15072102, PMID:15121792, PMID:15121797, PMID:15141215, PMID:15483652, PMID:15595939, PMID:15798777, PMID:15851026, PMID:15874888, PMID:15963462, PMID:16032769, PMID:16042315, PMID:16114042, PMID:16129702, PMID:16237225, PMID:16417848, PMID:16464865, PMID:16554133, PMID:16835931, PMID:16877242, PMID:16981987, PMID:17003820, PMID:17005952, PMID:17120248, PMID:17287951, PMID:17304050, PMID:17379185, PMID:17536269, PMID:17671177, PMID:18032745, PMID:18230340, PMID:18302728, PMID:18308511, PMID:18411301, PMID:18414213, PMID:18466115, PMID:18550814, PMID:18695678, PMID:18722871, PMID:18772611, PMID:18792920, PMID:18854862, PMID:19166931, PMID:19254590, PMID:19258292, PMID:19259131, PMID:19369101, PMID:19419980, PMID:19747374, PMID:20108343, PMID:20165957, PMID:20399389, PMID:20498439, PMID:20633017, PMID:21115397, PMID:21182496, PMID:21252315, PMID:21309039, PMID:21332470, PMID:21403110, PMID:21407264, PMID:21418539, PMID:21510812, PMID:21520333, PMID:21541650, PMID:21567926, PMID:21572417, PMID:21624971, PMID:21811971, PMID:21819393, PMID:21846442, PMID:21910228, PMID:22161988, PMID:22169896, PMID:22490766, PMID:22495309, PMID:22552000, PMID:22558107, PMID:22703879, PMID:22805177, PMID:22867869, PMID:22903760, PMID:22995991, PMID:23006675, PMID:23217510, PMID:23254740, PMID:23389244, PMID:23504366, PMID:23514105, PMID:23955302, PMID:24033266, PMID:24055113, PMID:24271014, PMID:24412076, PMID:24425785, PMID:24668795, PMID:24728327, PMID:24770934, PMID:24789117, PMID:25039834, PMID:25058500, PMID:25088526, PMID:25203624, PMID:25231023, PMID:25281918, PMID:25338684, PMID:25363768, PMID:25432535, PMID:25498131, PMID:25525159, PMID:25599672, PMID:25637381, PMID:25664948, PMID:25741868, PMID:25782670, PMID:25862857, PMID:25900779, PMID:25911330, PMID:25927202, PMID:26155992, PMID:26332594, PMID:26467025, PMID:26489027, PMID:26540169, PMID:26563443, PMID:26633542, PMID:26703369, PMID:26706013, PMID:26822237, PMID:27078846, PMID:27153395, PMID:27174333, PMID:27176796, PMID:27406250, PMID:27493206, PMID:27494029, PMID:27600092, PMID:27854218, PMID:27859028, PMID:27884173, PMID:28065512, PMID:28087349, PMID:28127866, PMID:28149746, PMID:28178598, PMID:28211972, PMID:28215400, PMID:28250423, PMID:28397210, PMID:28407358, PMID:28409891, PMID:28492532, PMID:28505269, PMID:28600779, PMID:28643795, PMID:28659645, PMID:28687356, PMID:28873162, PMID:28968464, PMID:29101226, PMID:29167182, PMID:29196670, PMID:29271092, PMID:29308833, PMID:29344138, PMID:29432982, PMID:29476190, PMID:29500070, PMID:29642139, PMID:29655203, PMID:29684080, PMID:29740858, PMID:29778030, PMID:29801666, PMID:29868112, PMID:29926239, PMID:29932062, PMID:30024541, PMID:30311386, PMID:30763456, PMID:32581362, PMID:32860008 NCBI chr10:13,962,006...13,996,684
Ensembl chr10:13,961,947...13,996,584
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 chr10:14,598,014...14,600,576
Ensembl chr10:14,598,014...14,600,576
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 chr10:14,618,615...14,639,274
Ensembl chr10:14,620,531...14,630,151
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 chr10:14,547,126...14,593,090
Ensembl chr10:14,547,172...14,590,762
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 chr10:15,191,078...15,195,860
Ensembl chr10:15,191,078...15,195,860
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 chr10:15,211,660...15,229,477
Ensembl chr10:15,211,960...15,228,235
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 chr10:15,243,429...15,245,757
Ensembl chr10:15,243,429...15,245,757
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:28492532, PMID:29932062 NCBI chr10:14,035,114...14,047,100
Ensembl chr10:14,035,149...14,047,096
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    syndrome 7003
      Neurocutaneous Syndromes 151
        tuberous sclerosis 101
          Polycystic Kidneys, Severe Infantile with Tuberous Sclerosis 0
          Renal TSC2 Angiomyolipomas, Modifier of 0
          tuberous sclerosis 1 29
          tuberous sclerosis 2 69
Path 2
Term Annotations click to browse term
  disease 16023
    Developmental Diseases 9537
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8371
        genetic disease 7871
          monogenic disease 5714
            autosomal genetic disease 4732
              autosomal dominant disease 3036
                complex cortical dysplasia with other brain malformations 749
                  Malformations of Cortical Development, Group I 604
                    tuberous sclerosis 101
                      Polycystic Kidneys, Severe Infantile with Tuberous Sclerosis 0
                      Renal TSC2 Angiomyolipomas, Modifier of 0
                      tuberous sclerosis 1 29
                      tuberous sclerosis 2 69
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.