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
Accession: DOID:13515
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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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
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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
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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
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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
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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
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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:16199547 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: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
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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:2039137 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: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:16199547 PMID:16237225 PMID:16417848 PMID:16464865 PMID:16554133 PMID:16877242 PMID:16981987 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:21309039 PMID:21332470 PMID:21345208 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:26580448 PMID:26633542 PMID:26703369 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:28771801 PMID:28968464 PMID:29101226 PMID:29167182 PMID:29196670 PMID:29271092 PMID:29344138 PMID:29476190 PMID:29500070 PMID:29641532 PMID:29642139 PMID:29801666 PMID:30024541 PMID:30036593 PMID:31444548 PMID:31586081 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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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:9536098 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:16199547 PMID:16225402 PMID:16554133 PMID:16981987 PMID:17287951 PMID:17304050 PMID:17576681 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:26580448 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:32211034 PMID:32238909 , PMID:26019056
RGD:11570507
NCBI chr 3:7,219,955...7,269,063
Ensembl chr 3:7,237,192...7,265,145
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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Ifng
interferon gamma
ISO
OMIM
NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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 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: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:11410667 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:16199547 PMID:16237225 PMID:16417848 PMID:16464865 PMID:16554133 PMID:16835931 PMID:16877242 PMID:16981987 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:21252315 PMID:21309039 PMID:21332470 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:26580448 PMID:26633542 PMID:26703369 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:27930734 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:28771801 PMID:28873162 PMID:28968464 PMID:29101226 PMID:29167182 PMID:29196670 PMID:29271092 PMID:29308833 PMID:29344138 PMID:29432982 PMID:29476190 PMID:29500070 PMID:29641532 PMID:29642139 PMID:29655203 PMID:29684080 PMID:29740858 PMID:29778030 PMID:29801666 PMID:29868112 PMID:29926239 PMID:29932062 PMID:30024541 PMID:30036593 PMID:30311386 PMID:30763456 PMID:31444548 PMID:31586081 PMID:31799751 PMID:31856217 PMID:32581362 PMID:32860008
NCBI chr10:13,962,006...13,996,684
Ensembl chr10:13,961,947...13,996,584
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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
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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
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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
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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
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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
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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
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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
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all