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: A syndrome that is characterized by the growth of numerous noncancerous tumors in many parts of the body. (DO)
Synonyms: exact_synonym: Bourneville Phakomatosis; Bourneville Pringle Disease; Bourneville Pringle's Disease; Bourneville Syndrome; Bourneville disease; Bourneville phacomatosis; Bourneville's Disease; Bourneville's Syndrome; Bourneville-Pringles Disease; Cerebral Sclerosis; Epiloia; TS; TSC; adenoma sebaceum; cerebral scleroses; sclerosis tuberosa; tuberose sclerosis; tuberous sclerosis complex; tuberous sclerosis syndrome
narrow_synonym: CORTICAL TUBERS
primary_id: MESH:D014402
xref: GARD:7830 ; ICD10CM:Q85.1 ; ICD9CM:759.5 ; NCI:C3424 ; OMIM:PS191100
For additional species annotation, visit the
Alliance of Genome Resources .
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
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
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
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
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
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
G
Tsc1
TSC complex subunit 1
susceptibility
ISO ISS
DNA:nonsense mutations, deletion: :multiple CTD Direct Evidence: marker/mechanism DNA:deletions, duplication, point mutation:exon, intron:multiple DNA:nonsense mutation:exon:p.R509X (c.1525C>T) (human) ClinVar Annotator: match by term: Cortical tubers | ClinVar Annotator: match by term: Tuberous sclerosis syndrome
CTD RGD MouseDO ClinVar
PMID:9242607 PMID:9328481 PMID:9536098 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:11271387 PMID:11329144 PMID:11774213 PMID:12015165 PMID:12040899 PMID:12111193 PMID:12112044 PMID:12773163 PMID:12853839 PMID:14551205 PMID:14633685 PMID:14642745 PMID:14756965 PMID:15121797 PMID:15236319 PMID:15595939 PMID:15798777 PMID:16114042 PMID:16199547 PMID:16554133 PMID:16981987 PMID:17304050 PMID:17576681 PMID:18032745 PMID:18345974 PMID:18397877 PMID:18414213 PMID:18772611 PMID:18801034 PMID:18830229 PMID:18854862 PMID:19139070 PMID:19175396 PMID:19254590 PMID:19419980 PMID:19747374 PMID:19789314 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:23728315 PMID:23857276 PMID:24033266 PMID:24633152 PMID:24728327 PMID:24789117 PMID:25077650 PMID:25117416 PMID:25326635 PMID:25498131 PMID:25525159 PMID:25684150 PMID:25722345 PMID:25741868 PMID:25900779 PMID:26231267 PMID:26332594 PMID:26467025 PMID:26493680 PMID:26540169 PMID:26563443 PMID:26580448 PMID:26786560 PMID:27061015 PMID:27153395 PMID:27229674 PMID:27406250 PMID:27425891 PMID:27470532 PMID:27494029 PMID:27600092 PMID:27859028 PMID:28065512 PMID:28087349 PMID:28215400 PMID:28250423 PMID:28291513 PMID:28492532 PMID:28518168 PMID:28614114 PMID:28754097 PMID:28968464 PMID:29101226 PMID:29127155 PMID:29196670 PMID:29221145 PMID:29261847 PMID:29286531 PMID:29344138 PMID:29432982 PMID:29458892 PMID:29476190 PMID:29500070 PMID:29641532 PMID:29655203 PMID:29684080 PMID:29706646 PMID:29740858 PMID:29932062 PMID:29960980 PMID:30076350 PMID:30548481 PMID:30581017 PMID:30794603 PMID:30842500 PMID:31019026 PMID:31054281 PMID:31377847 PMID:31525612 PMID:31564432 PMID:31586081 PMID:31664448 PMID:31855466 PMID:31911633 PMID:31927531 PMID:32211034 PMID:32238909 PMID:32313033 PMID:32368696 PMID:32461654 PMID:32461669 PMID:32555378 PMID:32917966 PMID:32939031 PMID:33071758 PMID:33486073 PMID:34573383 PMID:34799483 PMID:35710456 PMID:35918040 PMID:36232477 PMID:37149759 PMID:9242607 PMID:16114042 PMID:21403402 PMID:25900779 More...
RGD:1624196 , RGD:1624196 , RGD:11062248 , RGD:11570511 , RGD:11073512
NCBI chr 3:11,969,547...12,018,591
Ensembl chr 3:11,979,729...12,015,674
G
Tsc2
TSC complex subunit 2
ISO ISS
CTD Direct Evidence: marker/mechanism DNA:mutations:exon, intron:multiple ClinVar Annotator: match by term: Cortical tubers | ClinVar Annotator: match by term: Tuberous sclerosis syndrome
CTD MouseDO ClinVar RGD
PMID:1112665 PMID:1520333 PMID:1870099 PMID:2039137 PMID:2903760 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:9536098 PMID:9829910 PMID:9881533 PMID:10069705 PMID:10090883 PMID:10205261 PMID:10206124 PMID:10215407 PMID:10227394 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: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:15236319 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:16822245 PMID:16877242 PMID:16981987 PMID:17034546 PMID:17120248 PMID:17304050 PMID:17536269 PMID:17576681 PMID:17681840 PMID:18032745 PMID:18302728 PMID:18308511 PMID:18345974 PMID:18410267 PMID:18411301 PMID:18414213 PMID:18550814 PMID:18695678 PMID:18722871 PMID:18772611 PMID:18792920 PMID:18830229 PMID:18854862 PMID:19254590 PMID:19258292 PMID:19259131 PMID:19369101 PMID:19419980 PMID:19747374 PMID:19823873 PMID:20108343 PMID:20165957 PMID:20301399 PMID:20399389 PMID:20498439 PMID:20633017 PMID:21062901 PMID:21252315 PMID:21309039 PMID:21332470 PMID:21345208 PMID:21407264 PMID:21418539 PMID:21510812 PMID:21520333 PMID:21567926 PMID:21572417 PMID:21624971 PMID:21811971 PMID:21846442 PMID:21910228 PMID:22055460 PMID:22161988 PMID:22189265 PMID:22343534 PMID:22490766 PMID:22552000 PMID:22558107 PMID:22703879 PMID:22707510 PMID:22805177 PMID:22867869 PMID:22903760 PMID:22974335 PMID:22995991 PMID:23006675 PMID:23217510 PMID:23254740 PMID:23389244 PMID:23504366 PMID:23514105 PMID:23757617 PMID:23955302 PMID:24033266 PMID:24055113 PMID:24271014 PMID:24412076 PMID:24668795 PMID:24728327 PMID:24789117 PMID:25039834 PMID:25058500 PMID:25088526 PMID:25180276 PMID:25203624 PMID:25231023 PMID:25281918 PMID:25326637 PMID:25338684 PMID:25401301 PMID:25432535 PMID:25498131 PMID:25525159 PMID:25593300 PMID:25599672 PMID:25637381 PMID:25724664 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:26994145 PMID:27060308 PMID:27078846 PMID:27153395 PMID:27174333 PMID:27176796 PMID:27194594 PMID:27406250 PMID:27493206 PMID:27494029 PMID:27600092 PMID:27601542 PMID:27621404 PMID:27757534 PMID:27774772 PMID:27854218 PMID:27859028 PMID:27884173 PMID:27930734 PMID:28065512 PMID:28074849 PMID:28087349 PMID:28127866 PMID:28149746 PMID:28178598 PMID:28202063 PMID:28211972 PMID:28215400 PMID:28250423 PMID:28397210 PMID:28409891 PMID:28492532 PMID:28505269 PMID:28600779 PMID:28623545 PMID:28643795 PMID:28687356 PMID:28771801 PMID:28786016 PMID:28873162 PMID:28968464 PMID:28991257 PMID:29101226 PMID:29167182 PMID:29196670 PMID:29221145 PMID:29271092 PMID:29286531 PMID:29308833 PMID:29344138 PMID:29432982 PMID:29458892 PMID:29476190 PMID:29500070 PMID:29641532 PMID:29642139 PMID:29655203 PMID:29659200 PMID:29684080 PMID:29740858 PMID:29778030 PMID:29801666 PMID:29868112 PMID:29925043 PMID:29932062 PMID:29933521 PMID:30024541 PMID:30036593 PMID:30093976 PMID:30185235 PMID:30255984 PMID:30548481 PMID:30564305 PMID:30583724 PMID:30712878 PMID:30763456 PMID:30787465 PMID:30986793 PMID:31005478 PMID:31018109 PMID:31291687 PMID:31370276 PMID:31375768 PMID:31444548 PMID:31586081 PMID:31591157 PMID:31623367 PMID:31650098 PMID:31655562 PMID:31785789 PMID:31799751 PMID:31819260 PMID:31855466 PMID:31856217 PMID:31875159 PMID:31927531 PMID:32005694 PMID:32193183 PMID:32211034 PMID:32216820 PMID:32313033 PMID:32382396 PMID:32390558 PMID:32410215 PMID:32451928 PMID:32461669 PMID:32461694 PMID:32502382 PMID:32555378 PMID:32581362 PMID:32830346 PMID:32860008 PMID:32917028 PMID:32917966 PMID:33051600 PMID:33074564 PMID:33084842 PMID:33226606 PMID:33391346 PMID:33532864 PMID:33686467 PMID:34070849 PMID:34145886 PMID:34246755 PMID:34252879 PMID:34403804 PMID:34489640 PMID:34575676 PMID:34754157 PMID:34804623 PMID:34849272 PMID:34901059 PMID:34992632 PMID:35288456 PMID:35307828 PMID:35441217 PMID:35712104 PMID:35768438 PMID:35918040 PMID:36117189 PMID:36229297 PMID:36232477 PMID:37228977 PMID:9007104 PMID:16114042 More...
RGD:11568672 , RGD:11062248
NCBI chr10:13,621,135...13,655,773
Ensembl chr10:13,621,136...13,655,951
G
Abca2
ATP binding cassette subfamily A member 2
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 1
ClinVar
PMID:28492532
NCBI chr 3:8,244,515...8,264,545
Ensembl chr 3:8,244,639...8,264,537
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
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
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
G
Agpat2
1-acylglycerol-3-phosphate O-acyltransferase 2
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 1
ClinVar
PMID:28492532
NCBI chr 3:9,416,837...9,428,567
Ensembl chr 3:9,416,843...9,428,371
G
Ajm1
apical junction component 1 homolog
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 1
ClinVar
PMID:28492532
NCBI chr 3:8,394,942...8,401,323
Ensembl chr 3:8,392,889...8,401,321
G
Ak8
adenylate kinase 8
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 1
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 3:12,028,895...12,144,468
Ensembl chr 3:12,028,954...12,144,465
G
Barhl1
BarH-like homeobox 1
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 1
ClinVar
PMID:28492532
NCBI chr 3:12,241,327...12,248,649
Ensembl chr 3:12,241,327...12,248,649
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
G
C8g
complement C8 gamma chain
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 1
ClinVar
PMID:28492532
NCBI chr 3:8,320,503...8,322,087
Ensembl chr 3:8,305,920...8,323,495
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
G
Camsap1
calmodulin regulated spectrin-associated protein 1
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 1
ClinVar
PMID:28492532
NCBI chr 3:8,746,176...8,806,067
Ensembl chr 3:8,746,176...8,806,072
G
Card9
caspase recruitment domain family, member 9
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 1
ClinVar
PMID:28492532
NCBI chr 3:9,171,814...9,180,310
Ensembl chr 3:9,171,815...9,180,237
G
Ccdc183
coiled-coil domain containing 183
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 1
ClinVar
PMID:28492532
NCBI chr 3:8,428,784...8,438,948
Ensembl chr 3:8,428,787...8,437,194
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
G
Cfap77
cilia and flagella associated protein 77
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 1
ClinVar
PMID:28492532
NCBI chr 3:12,258,453...12,381,319
Ensembl chr 3:12,258,453...12,381,319
G
Clic3
chloride intracellular channel 3
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 1
ClinVar
PMID:28492532
NCBI chr 3:8,271,416...8,274,023
Ensembl chr 3:8,272,097...8,274,018
G
Col5a1
collagen type V alpha 1 chain
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 1
ClinVar
PMID:28492532
NCBI chr 3:11,208,429...11,356,715
Ensembl chr 3:11,208,512...11,354,588
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
G
Ddx31
DEAD-box helicase 31
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 1
ClinVar
PMID:28492532
NCBI chr 3:12,172,829...12,238,392
Ensembl chr 3:12,172,836...12,238,873
G
Dipk1b
divergent protein kinase domain 1B
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 1
ClinVar
PMID:28492532
NCBI chr 3:9,455,914...9,464,169
Ensembl chr 3:9,456,409...9,464,161
G
Dnlz
DNL-type zinc finger
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 1
ClinVar
PMID:28492532
NCBI chr 3:9,169,948...9,171,727
Ensembl chr 3:9,169,793...9,180,551
G
Dpp7
dipeptidylpeptidase 7
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 1
ClinVar
PMID:28492532
NCBI chr 3:8,165,091...8,169,343
Ensembl chr 3:8,165,091...8,169,355
G
Edf1
endothelial differentiation-related factor 1
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 1
ClinVar
PMID:28492532
NCBI chr 3:8,377,058...8,381,363
Ensembl chr 3:8,366,613...8,381,363
G
Egfl7
EGF-like-domain, multiple 7
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 1
ClinVar
PMID:28492532
NCBI chr 3:9,404,622...9,416,879
Ensembl chr 3:9,407,520...9,416,879
G
Entpd2
ectonucleoside triphosphate diphosphohydrolase 2
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 1
ClinVar
PMID:28492532
NCBI chr 3:8,213,575...8,219,094
Ensembl chr 3:8,213,663...8,226,866
G
Entr1
endosome associated trafficking regulator 1
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 1
ClinVar
PMID:28492532
NCBI chr 3:9,200,967...9,207,688
Ensembl chr 3:9,200,967...9,207,688
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
G
Fbxw5
F-box and WD repeat domain containing 5
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 1
ClinVar
PMID:28492532
NCBI chr 3:8,322,543...8,327,092
Ensembl chr 3:8,322,543...8,327,092
G
Fcnb
ficolin B
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 1
ClinVar
PMID:28492532
NCBI chr 3:11,393,713...11,402,198
Ensembl chr 3:11,393,739...11,402,151
G
Fut7
fucosyltransferase 7
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 1
ClinVar
PMID:28492532
NCBI chr 3:8,237,687...8,242,273
Ensembl chr 3:8,239,384...8,242,260
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
G
Gfi1b
growth factor independent 1B transcriptional repressor
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 1
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 3:11,940,232...11,952,989
Ensembl chr 3:11,940,233...11,952,942
G
Glt6d1
glycosyltransferase 6 domain containing 1
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 1
ClinVar
PMID:28492532
NCBI chr 3:8,627,793...8,638,537
Ensembl chr 3:8,627,911...8,636,335
G
Gpsm1
G-protein signaling modulator 1
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 1
ClinVar
PMID:28492532
NCBI chr 3:9,140,816...9,167,828
Ensembl chr 3:9,128,636...9,167,827
G
Grin1
glutamate ionotropic receptor NMDA type subunit 1
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 1
ClinVar
PMID:28492532
NCBI chr 3:8,103,680...8,130,603
Ensembl chr 3:8,103,680...8,130,603
G
Gtf3c4
general transcription factor IIIC subunit 4
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 1
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 3:12,154,803...12,172,795
Ensembl chr 3:12,154,805...12,172,725
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
G
Inpp5e
inositol polyphosphate-5-phosphatase E
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 1
ClinVar
PMID:28492532
NCBI chr 3:9,216,776...9,229,539
Ensembl chr 3:9,216,776...9,229,450
G
Kcnt1
potassium sodium-activated channel subfamily T member 1
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 1
ClinVar
PMID:28492532
NCBI chr 3:8,682,964...8,736,615
Ensembl chr 3:8,682,113...8,736,667
G
Lcn1
lipocalin 1
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 1
ClinVar
PMID:28492532
NCBI chr 3:9,532,860...9,537,859
Ensembl chr 3:9,532,915...9,536,577
G
Lcn10
lipocalin 10
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 1
ClinVar
PMID:28492532
NCBI chr 3:8,490,781...8,494,334
Ensembl chr 3:8,490,781...8,494,333
G
Lcn12
lipocalin 12
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 1
ClinVar
PMID:28492532
NCBI chr 3:8,312,412...8,315,392
Ensembl chr 3:8,305,920...8,323,495
G
Lcn6
lipocalin 6
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 1
ClinVar
PMID:28492532
NCBI chr 3:8,484,013...8,489,577
Ensembl chr 3:8,484,013...8,489,574
G
Lcn8
lipocalin 8
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 1
ClinVar
PMID:28492532
NCBI chr 3:8,467,934...8,473,691
Ensembl chr 3:8,467,934...8,470,918
G
Lcn9
lipocalin 9
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 1
ClinVar
PMID:28492532
NCBI chr 3:8,644,427...8,646,782
Ensembl chr 3:8,636,548...8,652,200
G
Lhx3
LIM homeobox 3
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 1
ClinVar
PMID:28492532
NCBI chr 3:9,026,432...9,035,122
Ensembl chr 3:9,027,425...9,034,480
G
Mamdc4
MAM domain containing 4
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 1
ClinVar
PMID:28492532
NCBI chr 3:8,382,387...8,391,003
Ensembl chr 3:8,382,387...8,391,003
G
Man1b1
mannosidase, alpha, class 1B, member 1
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 1
ClinVar
PMID:28492532
NCBI chr 3:8,143,877...8,165,007
Ensembl chr 3:8,143,381...8,165,006
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
G
Mir126a
microRNA 126a
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 1
ClinVar
PMID:28492532
NCBI chr 3:9,415,063...9,415,180
Ensembl chr 3:9,415,063...9,415,180
G
Mrps2
mitochondrial ribosomal protein S2
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 1
ClinVar
PMID:28492532
NCBI chr 3:11,803,044...11,806,341
Ensembl chr 3:11,801,310...11,806,313
G
Mymk
myomaker, myoblast fusion factor
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 1
ClinVar
PMID:28492532
NCBI chr 3:10,388,363...10,397,294
Ensembl chr 3:10,388,361...10,397,343
G
Nacc2
NACC family member 2
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 1
ClinVar
PMID:28492532
NCBI chr 3:8,879,952...8,946,660
Ensembl chr 3:8,883,065...8,946,660
G
Notch1
notch receptor 1
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 1
ClinVar
PMID:28492532
NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531
G
Npdc1
neural proliferation, differentiation and control, 1
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 1
ClinVar
PMID:28492532
NCBI chr 3:8,220,446...8,226,446
Ensembl chr 3:8,213,663...8,226,866
G
Obp2a
odorant binding protein 2A
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 1
ClinVar
PMID:28492532
NCBI chr 3:8,505,963...8,509,269
Ensembl chr 3:8,505,990...8,509,269
G
Obp2b
odorant binding protein 2B
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 1
ClinVar
PMID:28492532
NCBI chr 3:8,582,074...8,585,258
Ensembl chr 3:8,582,074...8,585,258
G
Olfm1
olfactomedin 1
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 1
ClinVar
PMID:28492532
NCBI chr 3:11,520,522...11,558,240
Ensembl chr 3:11,520,729...11,558,239
G
Paep
progestagen associated endometrial protein
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 1
ClinVar
PMID:28492532
NCBI chr 3:8,531,136...8,534,430
Ensembl chr 3:8,531,138...8,534,430
G
Paxx
PAXX, non-homologous end joining factor
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 1
ClinVar
PMID:28492532
NCBI chr 3:8,274,762...8,276,322
Ensembl chr 3:8,274,762...8,276,521
G
Phpt1
phosphohistidine phosphatase 1
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 1
ClinVar
PMID:28492532
NCBI chr 3:8,392,926...8,394,325
G
Pierce1
piercer of microtubule wall 1
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 1
ClinVar
PMID:28492532
NCBI chr 3:11,797,031...11,801,568
Ensembl chr 3:11,797,031...11,801,568
G
Pmpca
peptidase, mitochondrial processing subunit alpha
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 1
ClinVar
PMID:28492532
NCBI chr 3:9,207,731...9,216,846
Ensembl chr 3:9,207,717...9,216,844
G
Ppp1r26
protein phosphatase 1, regulatory subunit 26
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 1
ClinVar
PMID:28492532
NCBI chr 3:11,781,504...11,790,076
Ensembl chr 3:11,781,295...11,790,073
G
Ptgds
prostaglandin D2 synthase
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 1
ClinVar
PMID:28492532
NCBI chr 3:8,281,899...8,284,833
Ensembl chr 3:8,281,899...8,284,833
G
Qsox2
quiescin sulfhydryl oxidase 2
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 1
ClinVar
PMID:28492532
NCBI chr 3:9,034,994...9,064,649
Ensembl chr 3:9,034,994...9,064,664
G
Rabl6
RAB, member RAS oncogene family-like 6
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 1
ClinVar
PMID:28492532
NCBI chr 3:8,402,666...8,428,588
Ensembl chr 3:8,402,672...8,428,611
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
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
G
Rnu6atac
RNA, U6atac small nuclear
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 1
ClinVar
PMID:28492532
NCBI chr 2:211,550,817...211,550,946
Ensembl chr 2:211,550,817...211,550,946
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
G
Rxra
retinoid X receptor alpha
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 1
ClinVar
PMID:28492532
NCBI chr 3:10,989,832...11,076,366
Ensembl chr 3:10,989,832...11,073,712
G
Sapcd2
suppressor APC domain containing 2
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 1
ClinVar
PMID:28492532
NCBI chr 3:8,186,089...8,195,119
Ensembl chr 3:8,187,266...8,192,546
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
G
Sec16a
SEC16 homolog A, endoplasmic reticulum export factor
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 1
ClinVar
PMID:28492532
NCBI chr 3:9,229,687...9,264,837
Ensembl chr 3:9,229,687...9,264,273
G
Setx
senataxin
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 1
ClinVar
PMID:28492532
NCBI chr 3:12,428,091...12,480,801
Ensembl chr 3:12,427,635...12,480,803
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
G
Snapc4
small nuclear RNA activating complex, polypeptide 4
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 1
ClinVar
PMID:28492532
NCBI chr 3:9,182,061...9,200,819
Ensembl chr 3:9,182,067...9,199,518
G
Sohlh1
spermatogenesis and oogenesis specific basic helix-loop-helix 1
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 1
ClinVar
PMID:28492532
NCBI chr 3:8,662,995...8,667,521
Ensembl chr 3:8,663,318...8,667,388
G
Spaca9
sperm acrosome associated 9
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 1
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 3:12,019,376...12,028,801
Ensembl chr 3:12,019,363...12,029,119
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
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
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
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
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
G
Tmem141
transmembrane protein 141
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 1
ClinVar
PMID:28492532
NCBI chr 3:8,439,533...8,441,491
Ensembl chr 3:8,439,533...8,441,491
G
Tmem250
transmembrane protein 250
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 1
ClinVar
PMID:28492532
NCBI chr 3:8,962,657...8,966,349
Ensembl chr 3:8,962,657...8,966,349
G
Traf2
Tnf receptor-associated factor 2
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 1
ClinVar
PMID:28492532
NCBI chr 3:8,341,950...8,366,609
Ensembl chr 3:8,341,951...8,366,538
G
Tsc1
TSC complex subunit 1
treatment
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 1 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD RGD
PMID:9242607 PMID:9328481 PMID:9536098 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:10942116 PMID:11068191 PMID:11112665 PMID:11208653 PMID:11271387 PMID:11281455 PMID:11329144 PMID:11774213 PMID:12015165 PMID:12040899 PMID:12111193 PMID:12112044 PMID:12773163 PMID:12853839 PMID:14551205 PMID:14597398 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:18801034 PMID:18830229 PMID:18854862 PMID:19139070 PMID:19175396 PMID:19254590 PMID:19419980 PMID:19747374 PMID:19763152 PMID:19789314 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:22974335 PMID:22995991 PMID:23254740 PMID:23341583 PMID:23389244 PMID:23401075 PMID:23514105 PMID:23647917 PMID:23728315 PMID:23857276 PMID:24033266 PMID:24271014 PMID:24633152 PMID:24714658 PMID:24728327 PMID:24789117 PMID:25077650 PMID:25117416 PMID:25326635 PMID:25401301 PMID:25498131 PMID:25525159 PMID:25640679 PMID:25684150 PMID:25722345 PMID:25741868 PMID:25782670 PMID:25889454 PMID:25900779 PMID:25927202 PMID:26231267 PMID:26332594 PMID:26467025 PMID:26493680 PMID:26540169 PMID:26563443 PMID:26580448 PMID:26615199 PMID:26786560 PMID:26934580 PMID:27061015 PMID:27153395 PMID:27174333 PMID:27229674 PMID:27406250 PMID:27425891 PMID:27470532 PMID:27494029 PMID:27600092 PMID:27859028 PMID:28065512 PMID:28087349 PMID:28215400 PMID:28250423 PMID:28288225 PMID:28492532 PMID:28518168 PMID:28614114 PMID:28623545 PMID:28754097 PMID:28762286 PMID:28968464 PMID:29045506 PMID:29052576 PMID:29101226 PMID:29127155 PMID:29196670 PMID:29221145 PMID:29261847 PMID:29286531 PMID:29344138 PMID:29432982 PMID:29458892 PMID:29476190 PMID:29500070 PMID:29619247 PMID:29641532 PMID:29655203 PMID:29684080 PMID:29706646 PMID:29740858 PMID:29932062 PMID:29960980 PMID:30076350 PMID:30093976 PMID:30182498 PMID:30548481 PMID:30794603 PMID:30842500 PMID:31019026 PMID:31054281 PMID:31377847 PMID:31484976 PMID:31525612 PMID:31564432 PMID:31586081 PMID:31664448 PMID:31832524 PMID:31855466 PMID:31856217 PMID:31911633 PMID:31927531 PMID:32005694 PMID:32091409 PMID:32203225 PMID:32211034 PMID:32238909 PMID:32313033 PMID:32368696 PMID:32461654 PMID:32461669 PMID:32555378 PMID:32647919 PMID:32655475 PMID:32917966 PMID:32939031 PMID:33071758 PMID:33181865 PMID:33486073 PMID:33532864 PMID:34008892 PMID:34403804 PMID:34573383 PMID:34799483 PMID:35571021 PMID:35710456 PMID:35918040 PMID:36115585 PMID:36232477 PMID:37149759 PMID:26019056 More...
RGD:11570507
NCBI chr 3:11,969,547...12,018,591
Ensembl chr 3:11,979,729...12,015,674
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:27859028 PMID:28492532 More...
NCBI chr10:13,621,135...13,655,773
Ensembl chr10:13,621,136...13,655,951
G
Ttf1
transcription termination factor 1
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 1
ClinVar
PMID:28492532
NCBI chr 3:12,384,626...12,409,257
Ensembl chr 3:12,384,655...12,409,257
G
Uap1l1
UDP-N-acetylglucosamine pyrophosphorylase 1 like 1
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 1
ClinVar
PMID:28492532
NCBI chr 3:8,172,335...8,180,505
Ensembl chr 3:8,173,216...8,180,443
G
Ubac1
UBA domain containing 1
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 1
ClinVar
PMID:28492532
NCBI chr 3:8,825,444...8,848,055
Ensembl chr 3:8,825,447...8,848,028
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
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
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
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
G
Bricd5
BRICHOS domain containing 5
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 2
ClinVar
PMID:25741868
NCBI chr10:13,498,726...13,500,259
Ensembl chr10:13,498,381...13,500,259
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
G
Caskin1
CASK interacting protein 1
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 2
ClinVar
PMID:25741868
NCBI chr10:13,512,684...13,533,380
Ensembl chr10:13,513,465...13,533,377
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
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
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
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
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
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
G
Dnase1l2
deoxyribonuclease 1 like 2
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 2
ClinVar
PMID:25741868
NCBI chr10:13,471,850...13,473,447
Ensembl chr10:13,471,479...13,473,763
G
E4f1
E4F transcription factor 1
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 2
ClinVar
PMID:25741868
NCBI chr10:13,471,478...13,495,018
Ensembl chr10:13,474,456...13,485,974
G
Eci1
enoyl-CoA delta isomerase 1
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 2
ClinVar
PMID:25741868
NCBI chr10:13,456,715...13,470,061
Ensembl chr10:13,456,563...13,470,061
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
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
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
G
Gfer
growth factor, augmenter of liver regeneration
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 2
ClinVar
PMID:10205261 PMID:16114042 PMID:17287951 PMID:17304050 PMID:20498439 PMID:25741868 PMID:28492532 PMID:29932062 More...
NCBI chr10:13,718,489...13,721,782
Ensembl chr10:13,718,489...13,720,869
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
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
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
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
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 PMID:29932062 More...
NCBI chr10:13,781,999...13,788,133
Ensembl chr10:13,781,993...13,788,133
G
Ifng
interferon gamma
ISO
CTD Direct Evidence: marker/mechanism
OMIM CTD
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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
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
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
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
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
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
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
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
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 PMID:29932062 More...
NCBI chr10:13,833,170...13,865,684
Ensembl chr10:13,833,750...13,865,046
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
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
G
Mlst8
MTOR associated protein, LST8 homolog
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 2
ClinVar
PMID:25741868
NCBI chr10:13,498,377...13,504,128
Ensembl chr10:13,498,388...13,504,128
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
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
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 PMID:29932062 More...
NCBI chr10:13,764,883...13,770,609
Ensembl chr10:13,764,883...13,770,609
G
Ndufb10
NADH:ubiquinone oxidoreductase subunit B10
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 2
ClinVar
PMID:10205261 PMID:16114042 PMID:17287951 PMID:17304050 PMID:20498439 PMID:25741868 PMID:28492532 PMID:29932062 More...
NCBI chr10:13,749,273...13,751,434
Ensembl chr10:13,749,275...13,751,442
G
Nherf2
NHERF family PDZ scaffold protein 2
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 2
ClinVar
PMID:10205261 PMID:16114042 PMID:17287951 PMID:17304050 PMID:20498439 PMID:25741868 PMID:28492532 PMID:29932062 More...
NCBI chr10:13,662,461...13,672,975
Ensembl chr10:13,662,461...13,673,049
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
G
Noxo1
NADPH oxidase organizer 1
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 2
ClinVar
PMID:10205261 PMID:16114042 PMID:17287951 PMID:17304050 PMID:20498439 PMID:25741868 PMID:28492532 PMID:29932062 More...
NCBI chr10:13,723,253...13,726,008
Ensembl chr10:13,721,473...13,726,061
G
Npw
neuropeptide W
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 2
ClinVar
PMID:10205261 PMID:16114042 PMID:17287951 PMID:17304050 PMID:20498439 PMID:25741868 PMID:28492532 PMID:29932062 More...
NCBI chr10:13,680,275...13,681,618
Ensembl chr10:13,680,321...13,681,586
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 PMID:25741868 PMID:28492532 PMID:29432982 PMID:29932062 PMID:32917966 More...
NCBI chr10:13,655,791...13,661,958
Ensembl chr10:13,655,785...13,661,957
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
G
Pgp
phosphoglycolate phosphatase
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 2
ClinVar
PMID:25741868
NCBI chr10:13,495,232...13,497,858
Ensembl chr10:13,494,291...13,497,858
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
G
Pkd1
polycystin 1, transient receptor potential channel interacting
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 2
ClinVar
PMID:9829910 PMID:10205261 PMID:11112665 PMID:15024740 PMID:15874888 PMID:16114042 PMID:17287951 PMID:17304050 PMID:21309039 PMID:21520333 PMID:22903760 PMID:24789117 PMID:25741868 PMID:27406250 PMID:28492532 PMID:29432982 More...
NCBI chr10:13,573,779...13,621,138
Ensembl chr10:13,573,021...13,621,128
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
G
Rab26
RAB26, member RAS oncogene family
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 2
ClinVar
PMID:25741868
NCBI chr10:13,553,395...13,558,063
Ensembl chr10:13,553,395...13,558,030
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...14,936,153
Ensembl chr10:14,900,929...14,936,557
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
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
G
Rnf151
ring finger protein 151
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 2
ClinVar
PMID:10205261 PMID:16114042 PMID:17287951 PMID:17304050 PMID:20498439 PMID:25741868 PMID:28492532 PMID:29932062 More...
NCBI chr10:13,742,682...13,747,192
Ensembl chr10:13,742,682...13,745,000
G
Rpl3l
ribosomal protein L3-like
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 2
ClinVar
PMID:10205261 PMID:16114042 PMID:17287951 PMID:17304050 PMID:20498439 PMID:25741868 PMID:28492532 PMID:29932062 More...
NCBI chr10:13,753,914...13,764,458
Ensembl chr10:13,753,886...13,764,457
G
Rps2
ribosomal protein S2
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 2
ClinVar
PMID:10205261 PMID:16114042 PMID:17287951 PMID:17304050 PMID:20498439 PMID:25741868 PMID:28492532 PMID:29932062 More...
NCBI chr10:13,747,316...13,749,165
Ensembl chr10:13,747,301...13,749,163
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
G
Serpinc1
serpin family C member 1
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 2
ClinVar
PMID:21264449 PMID:23932013 PMID:25298121 PMID:28492532
NCBI chr13:73,257,208...73,271,476
Ensembl chr13:73,257,179...73,284,293
G
Snora64
small nucleolar RNA, H/ACA box 64
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
G
Snord60
small nucleolar RNA, C/D box 60
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 2
ClinVar
PMID:25741868
NCBI chr10:13,552,773...13,552,855
Ensembl chr10:13,552,773...13,552,855
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
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
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
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
G
Syngr3
synaptogyrin 3
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 2
ClinVar
PMID:10205261 PMID:16114042 PMID:17287951 PMID:17304050 PMID:20498439 PMID:25741868 PMID:28492532 PMID:29932062 More...
NCBI chr10:13,710,553...13,715,309
Ensembl chr10:13,704,998...13,715,669
G
Tbl3
transducin (beta)-like 3
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 2
ClinVar
PMID:10205261 PMID:16114042 PMID:17287951 PMID:17304050 PMID:20498439 PMID:25741868 PMID:28492532 PMID:29932062 More...
NCBI chr10:13,726,127...13,731,340
Ensembl chr10:13,726,129...13,731,372
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
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
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
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
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
G
Traf7
TNF receptor associated factor 7
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 2
ClinVar
PMID:25741868
NCBI chr10:13,533,570...13,552,290
Ensembl chr10:13,533,570...13,552,203
G
Tsc2
TSC complex subunit 2
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 2 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:3 PMID:1112665 PMID:1520333 PMID:1870099 PMID:2039137 PMID:2903760 PMID:4461062 PMID:5279523 PMID:7558029 PMID:7581393 PMID:7823706 PMID:8519695 PMID:8634701 PMID:8799170 PMID:8824881 PMID:8825048 PMID:9045618 PMID:9076719 PMID:9242607 PMID:9285776 PMID:9302281 PMID:9328481 PMID:9361032 PMID:9412784 PMID:9452050 PMID:9463313 PMID:9536098 PMID:9580671 PMID:9829910 PMID:9881533 PMID:10069705 PMID:10090883 PMID:10205261 PMID:10206124 PMID:10215407 PMID:10227394 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:11129334 PMID:11208653 PMID:11281455 PMID:11290735 PMID:11403047 PMID:11437991 PMID:11520734 PMID:11521203 PMID:11603814 PMID:11741832 PMID:11741833 PMID:11781698 PMID:11810271 PMID:11829138 PMID:12015165 PMID:12062115 PMID:12086608 PMID:12111193 PMID:12136241 PMID:12235314 PMID:12511557 PMID:12752578 PMID:12869586 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:15340059 PMID:15483652 PMID:15595939 PMID:15712319 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:16822245 PMID:16835931 PMID:16877242 PMID:16981987 PMID:17005952 PMID:17034546 PMID:17120248 PMID:17287951 PMID:17304050 PMID:17379185 PMID:17536269 PMID:17576681 PMID:17671177 PMID:18032745 PMID:18230340 PMID:18302728 PMID:18308511 PMID:18410267 PMID:18411301 PMID:18414213 PMID:18466115 PMID:18550814 PMID:18695678 PMID:18722871 PMID:18772611 PMID:18792920 PMID:18830229 PMID:18854862 PMID:19166931 PMID:19254590 PMID:19258292 PMID:19259131 PMID:19369101 PMID:19419980 PMID:19747374 PMID:19823873 PMID:20108343 PMID:20165957 PMID:20301399 PMID:20399389 PMID:20498439 PMID:20633017 PMID:21252315 PMID:21309039 PMID:21332470 PMID:21407201 PMID:21407264 PMID:21418539 PMID:21510812 PMID:21520333 PMID:21567926 PMID:21572417 PMID:21624971 PMID:21811971 PMID:21846442 PMID:21910228 PMID:22055460 PMID:22161988 PMID:22169896 PMID:22189265 PMID:22343534 PMID:22490766 PMID:22495309 PMID:22552000 PMID:22558107 PMID:22703879 PMID:22707510 PMID:22748302 PMID:22791573 PMID:22805177 PMID:22867869 PMID:22903760 PMID:22974335 PMID:22995991 PMID:23006675 PMID:23217510 PMID:23254740 PMID:23389244 PMID:23504366 PMID:23514105 PMID:23955302 PMID:24033266 PMID:24053982 PMID:24055113 PMID:24075384 PMID:24271014 PMID:24412076 PMID:24668795 PMID:24728327 PMID:24737435 PMID:24770934 PMID:24789117 PMID:24840834 PMID:25039834 PMID:25058500 PMID:25088526 PMID:25180276 PMID:25203624 PMID:25231023 PMID:25281918 PMID:25326637 PMID:25338684 PMID:25363768 PMID:25401301 PMID:25432535 PMID:25498131 PMID:25525159 PMID:25593300 PMID:25599672 PMID:25637381 PMID:25640679 PMID:25724664 PMID:25741868 PMID:25782670 PMID:25862857 PMID:25900779 PMID:25911330 PMID:25927202 PMID:25943403 PMID:25946256 PMID:26155992 PMID:26332594 PMID:26467025 PMID:26489027 PMID:26540169 PMID:26563443 PMID:26580448 PMID:26633542 PMID:26703369 PMID:26822237 PMID:26994145 PMID:27060308 PMID:27078846 PMID:27153395 PMID:27174333 PMID:27176796 PMID:27185581 PMID:27194594 PMID:27406250 PMID:27493206 PMID:27494029 PMID:27600092 PMID:27601542 PMID:27621404 PMID:27757534 PMID:27774772 PMID:27824329 PMID:27854218 PMID:27859028 PMID:27884173 PMID:27930734 PMID:28065512 PMID:28074849 PMID:28087349 PMID:28127866 PMID:28149746 PMID:28178598 PMID:28191889 PMID:28202063 PMID:28211972 PMID:28215400 PMID:28250423 PMID:28302202 PMID:28336152 PMID:28397210 PMID:28407358 PMID:28409891 PMID:28492532 PMID:28505269 PMID:28518168 PMID:28600779 PMID:28623545 PMID:28643795 PMID:28659645 PMID:28687356 PMID:28771801 PMID:28786016 PMID:28873162 PMID:28968464 PMID:28991257 PMID:29101226 PMID:29167182 PMID:29196670 PMID:29221145 PMID:29265517 PMID:29271092 PMID:29286531 PMID:29308833 PMID:29344138 PMID:29432982 PMID:29458892 PMID:29476190 PMID:29500070 PMID:29641532 PMID:29642139 PMID:29655203 PMID:29659200 PMID:29684080 PMID:29740858 PMID:29778030 PMID:29801666 PMID:29868112 PMID:29892012 PMID:29925043 PMID:29926239 PMID:29930392 PMID:29932062 PMID:29933521 PMID:30024541 PMID:30036593 PMID:30086788 PMID:30093976 PMID:30185235 PMID:30255984 PMID:30260069 PMID:30311386 PMID:30336374 PMID:30415495 PMID:30548481 PMID:30564305 PMID:30583724 PMID:30586318 PMID:30700906 PMID:30712878 PMID:30737501 PMID:30763456 PMID:30787465 PMID:30911571 PMID:30986793 PMID:31005478 PMID:31018109 PMID:31069529 PMID:31140686 PMID:31291687 PMID:31370276 PMID:31375768 PMID:31444548 PMID:31525612 PMID:31586081 PMID:31591157 PMID:31623367 PMID:31650098 PMID:31655562 PMID:31780880 PMID:31785789 PMID:31799751 PMID:31819260 PMID:31832524 PMID:31855466 PMID:31856217 PMID:31875159 PMID:31927531 PMID:31981491 PMID:32005694 PMID:32193183 PMID:32211034 PMID:32216820 PMID:32313033 PMID:32340510 PMID:32382396 PMID:32390558 PMID:32410215 PMID:32451928 PMID:32461654 PMID:32461669 PMID:32461694 PMID:32477112 PMID:32502382 PMID:32555378 PMID:32581362 PMID:32647919 PMID:32830346 PMID:32849516 PMID:32860008 PMID:32917028 PMID:32917966 PMID:32964447 PMID:33051600 PMID:33074564 PMID:33084842 PMID:33226606 PMID:33391346 PMID:33436626 PMID:33437033 PMID:33532864 PMID:33574475 PMID:33575217 PMID:33686467 PMID:34070849 PMID:34081952 PMID:34145886 PMID:34219792 PMID:34246755 PMID:34252879 PMID:34403804 PMID:34489640 PMID:34575676 PMID:34754157 PMID:34804623 PMID:34849272 PMID:34901059 PMID:34992632 PMID:35231114 PMID:35288456 PMID:35307828 PMID:35441217 PMID:35571021 PMID:35599849 PMID:35712104 PMID:35768438 PMID:35918040 PMID:36030538 PMID:36117189 PMID:36229297 PMID:36232477 PMID:37228977 PMID:38012313 More...
NCBI chr10:13,621,135...13,655,773
Ensembl chr10:13,621,136...13,655,951
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 chr10:14,257,161...14,259,562
Ensembl chr10:14,257,171...14,259,561
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
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
G
Uqcc4
ubiquinol-cytochrome c reductase complex assembly factor 4
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
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
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
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
G
Zfp598
zinc finger protein 598
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 2
ClinVar
PMID:10205261 PMID:16114042 PMID:17287951 PMID:17304050 PMID:20498439 PMID:25741868 PMID:28492532 PMID:29932062 More...
NCBI chr10:13,694,224...13,706,235
Ensembl chr10:13,694,286...13,706,233
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all