tuberous sclerosis Gene Set

Dataset DISEASES Text-mining Gene-Disease Assocation Evidence Scores
Category disease or phenotype associations
Type disease
Description OMIM mapping confirmed by DO. [LS]. (Human Disease Ontology, DOID_13515)
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Genes

164 genes co-occuring with the disease tuberous sclerosis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

Symbol Name Standardized Value
TSC2 tuberous sclerosis 2 3.53428
TSC1 tuberous sclerosis 1 3.13764
RHEB Ras homolog enriched in brain 2.22125
MTOR mechanistic target of rapamycin (serine/threonine kinase) 2.04776
RAP1GAP RAP1 GTPase activating protein 1.53745
PKD1 polycystic kidney disease 1 (autosomal dominant) 1.46232
RPS6KB1 ribosomal protein S6 kinase, 70kDa, polypeptide 1 1.45265
PKD1P6 polycystic kidney disease 1 (autosomal dominant) pseudogene 6 1.36597
RPTOR regulatory associated protein of MTOR, complex 1 1.32541
ARPP21 cAMP-regulated phosphoprotein, 21kDa 1.21565
MLANA melan-A 1.16093
AK1 adenylate kinase 1 1.10552
DDIT4 DNA-damage-inducible transcript 4 1.09671
NF1 neurofibromin 1 1.09419
POMC proopiomelanocortin 1.08705
AKT1 v-akt murine thymoma viral oncogene homolog 1 1.06354
EIF4EBP1 eukaryotic translation initiation factor 4E binding protein 1 1.05429
IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma 0.965405
RPS6 ribosomal protein S6 0.957033
DEPDC5 DEP domain containing 5 0.910199
RABEP1 rabaptin, RAB GTPase binding effector protein 1 0.888438
MEN1 multiple endocrine neoplasia I 0.887208
EMX2 empty spiracles homeobox 2 0.858952
RICTOR RPTOR independent companion of MTOR, complex 2 0.846259
DCX doublecortin 0.825358
INADL InaD-like (Drosophila) 0.811821
RPS6KA1 ribosomal protein S6 kinase, 90kDa, polypeptide 1 0.808949
SYP synaptophysin 0.790081
GFAP glial fibrillary acidic protein 0.78066
RRAGC Ras-related GTP binding C 0.771661
MLST8 MTOR associated protein, LST8 homolog (S. cerevisiae) 0.76921
EIF4H eukaryotic translation initiation factor 4H 0.751678
CDKN1B cyclin-dependent kinase inhibitor 1B (p27, Kip1) 0.747204
ARHGDIG Rho GDP dissociation inhibitor (GDI) gamma 0.741517
ENO2 enolase 2 (gamma, neuronal) 0.714408
NTN3 netrin 3 0.708767
NTHL1 nth endonuclease III-like 1 (E. coli) 0.707559
RELN reelin 0.696707
REXO4 REX4, RNA exonuclease 4 homolog (S. cerevisiae) 0.695504
TPK1 thiamin pyrophosphokinase 1 0.693098
DCLK2 doublecortin-like kinase 2 0.691094
CNTN4 contactin 4 0.689893
BAIAP3 BAI1-associated protein 3 0.689492
NSUN5 NOP2/Sun domain family, member 5 0.684692
AKT1S1 AKT1 substrate 1 (proline-rich) 0.673518
MAPKAPK5 mitogen-activated protein kinase-activated protein kinase 5 0.670732
FLNA filamin A, alpha 0.665563
PAFAH1B1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa) 0.637495
VAV2 vav 2 guanine nucleotide exchange factor 0.637102
TBC1D7 TBC1 domain family, member 7 0.624535
NF2 neurofibromin 2 (merlin) 0.617486
EIF4A3 eukaryotic translation initiation factor 4A3 0.615529
ZNF674 zinc finger protein 674 0.614747
CRB3 crumbs family member 3 0.613965
RDX radixin 0.611229
CAPZA1 capping protein (actin filament) muscle Z-line, alpha 1 0.594454
YWHAB tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta 0.593285
ABO ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase) 0.587054
TFE3 transcription factor binding to IGHM enhancer 3 0.586665
ASTN2 astrotactin 2 0.586276
MSN moesin 0.563723
EZR ezrin 0.561392
ZC3H13 zinc finger CCCH-type containing 13 0.559062
DOCK7 dedicator of cytokinesis 7 0.548971
GABRG1 gamma-aminobutyric acid (GABA) A receptor, gamma 1 0.541217
HTR6 5-hydroxytryptamine (serotonin) receptor 6, G protein-coupled 0.522273
CALD1 caldesmon 1 0.502292
RAP1A RAP1A, member of RAS oncogene family 0.498467
RAB40AL RAB40A, member RAS oncogene family-like 0.498085
NES nestin 0.496175
PLA2G16 phospholipase A2, group XVI 0.495411
FKBP8 FK506 binding protein 8, 38kDa 0.484364
STK11 serine/threonine kinase 11 0.481325
RAC2 ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2) 0.47374
PSMA5 proteasome (prosome, macropain) subunit, alpha type, 5 0.468063
SYNGAP1 synaptic Ras GTPase activating protein 1 0.467684
NEK1 NIMA-related kinase 1 0.465794
GSN gelsolin 0.46466
CRYAB crystallin, alpha B 0.460129
EEF1D eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein) 0.452208
DBH dopamine beta-hydroxylase (dopamine beta-monooxygenase) 0.446182
RCN1 reticulocalbin 1, EF-hand calcium binding domain 0.445052
ARL13B ADP-ribosylation factor-like 13B 0.444676
HERC1 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 0.439786
SYCN syncollin 0.435651
CD68 CD68 molecule 0.431894
PTEN phosphatase and tensin homolog 0.423265
STRADA STE20-related kinase adaptor alpha 0.405305
LRPAP1 low density lipoprotein receptor-related protein associated protein 1 0.397843
LMX1B LIM homeobox transcription factor 1, beta 0.390397
RALGDS ral guanine nucleotide dissociation stimulator 0.388166
BBS9 Bardet-Biedl syndrome 9 0.383708
PKHD1 polycystic kidney and hepatic disease 1 (autosomal recessive) 0.377402
MAP1B microtubule-associated protein 1B 0.377031
MVP major vault protein 0.363347
DEPTOR DEP domain containing MTOR-interacting protein 0.356341
SEMA5A sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A 0.352291
TYR tyrosinase 0.349717
KLF6 Kruppel-like factor 6 0.348981
YWHAG tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma 0.342372
CD34 CD34 molecule 0.335412
RB1CC1 RB1-inducible coiled-coil 1 0.333218
CALU calumenin 0.330295
FKBP1A FK506 binding protein 1A, 12kDa 0.3292
EEF2K eukaryotic elongation factor 2 kinase 0.32701
RAB5A RAB5A, member RAS oncogene family 0.318999
MMP12 matrix metallopeptidase 12 0.317909
RAP1B RAP1B, member of RAS oncogene family 0.312827
RALB v-ral simian leukemia viral oncogene homolog B 0.312827
GPR182 G protein-coupled receptor 182 0.311014
BBS10 Bardet-Biedl syndrome 10 0.310652
VAV1 vav 1 guanine nucleotide exchange factor 0.309928
SFN stratifin 0.309566
ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase 0.308118
SGCA sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein) 0.307395
KIF1A kinesin family member 1A 0.299812
PMEL premelanosome protein 0.289386
TPT1 tumor protein, translationally-controlled 1 0.284728
NBPF1 neuroblastoma breakpoint family, member 1 0.277584
EPB41 erythrocyte membrane protein band 4.1 0.266913
PRX periaxin 0.256299
ABL2 ABL proto-oncogene 2, non-receptor tyrosine kinase 0.247501
SLC22A3 solute carrier family 22 (organic cation transporter), member 3 0.246799
CCM2 cerebral cavernous malformation 2 0.235616
TP53 tumor protein p53 0.23353
CUL4A cullin 4A 0.233183
TRIM32 tripartite motif containing 32 0.231448
NLGN3 neuroligin 3 0.231102
PGR progesterone receptor 0.228679
OPHN1 oligophrenin 1 0.225573
EEF2 eukaryotic translation elongation factor 2 0.222479
SLC22A2 solute carrier family 22 (organic cation transporter), member 2 0.219057
GRIA1 glutamate receptor, ionotropic, AMPA 1 0.217012
EIF6 eukaryotic translation initiation factor 6 0.212945
GDA guanine deaminase 0.211597
KRIT1 KRIT1, ankyrin repeat containing 0.208914
PGD phosphogluconate dehydrogenase 0.206248
SPTAN1 spectrin, alpha, non-erythrocytic 1 0.205254
FNDC3A fibronectin type III domain containing 3A 0.202618
FN1 fibronectin 1 0.197742
GRIK1 glutamate receptor, ionotropic, kainate 1 0.194548
INSR insulin receptor 0.194232
ABCC1 ATP-binding cassette, sub-family C (CFTR/MRP), member 1 0.191097
TOP2B topoisomerase (DNA) II beta 180kDa 0.188938
MBP myelin basic protein 0.184424
TMC6 transmembrane channel-like 6 0.182957
CLIP1 CAP-GLY domain containing linker protein 1 0.18151
EIF4E eukaryotic translation initiation factor 4E 0.180937
RAB3A RAB3A, member RAS oncogene family 0.177576
NRP2 neuropilin 2 0.177301
LIG3 ligase III, DNA, ATP-dependent 0.177029
CDK2 cyclin-dependent kinase 2 0.175947
CCNB1 cyclin B1 0.174881
RAD23B RAD23 homolog B (S. cerevisiae) 0.172038
INS insulin 0.171286
CHGA chromogranin A 0.167915
ESR1 estrogen receptor 1 0.165435
ABAT 4-aminobutyrate aminotransferase 0.163523
WISP1 WNT1 inducible signaling pathway protein 1 0.162505
DLG3 discs, large homolog 3 (Drosophila) 0.162306
PPP1R15A protein phosphatase 1, regulatory subunit 15A 0.160387
SHANK3 SH3 and multiple ankyrin repeat domains 3 0.159838
CYS1 cystin 1 0.159658
CHRNA7 cholinergic receptor, nicotinic, alpha 7 (neuronal) 0.157765