Tuberous Sclerosis Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description OMIM mapping confirmed by DO. [LS]. (Human Disease Ontology, DOID_13515)
External Link https://www.disgenet.org/browser/0/1/0/C0041341
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Genes

276 genes associated with the disease Tuberous Sclerosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ABCA4 ATP-binding cassette, sub-family A (ABC1), member 4
ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1
ABCC1 ATP-binding cassette, sub-family C (CFTR/MRP), member 1
ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase
ABO ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)
ACTB actin, beta
ADIPOQ adiponectin, C1Q and collagen domain containing
AGER advanced glycosylation end product-specific receptor
AHSA1 AHA1, activator of heat shock 90kDa protein ATPase homolog 1 (yeast)
AIMP2 aminoacyl tRNA synthetase complex-interacting multifunctional protein 2
AKT1 v-akt murine thymoma viral oncogene homolog 1
AKT2 v-akt murine thymoma viral oncogene homolog 2
AKT3 v-akt murine thymoma viral oncogene homolog 3
AMACR alpha-methylacyl-CoA racemase
AMELX amelogenin, X-linked
AMH anti-Mullerian hormone
ANXA1 annexin A1
ANXA6 annexin A6
APRT adenine phosphoribosyltransferase
AQP4 aquaporin 4
ARID1B AT rich interactive domain 1B (SWI1-like)
ARNTL aryl hydrocarbon receptor nuclear translocator-like
ATM ATM serine/threonine kinase
BCL2 B-cell CLL/lymphoma 2
BCL2L11 BCL2-like 11 (apoptosis facilitator)
BDNF brain-derived neurotrophic factor
BEX2 brain expressed X-linked 2
BMP4 bone morphogenetic protein 4
BRAF B-Raf proto-oncogene, serine/threonine kinase
C1QBP complement component 1, q subcomponent binding protein
CANX calnexin
CASK calcium/calmodulin-dependent serine protein kinase (MAGUK family)
CBR1 carbonyl reductase 1
CCDC8 coiled-coil domain containing 8
CCL2 chemokine (C-C motif) ligand 2
CCL24 chemokine (C-C motif) ligand 24
CCL26 chemokine (C-C motif) ligand 26
CCN2 cellular communication network factor 2
CCND1 cyclin D1
CD8A CD8a molecule
CDCA5 cell division cycle associated 5
CDK5R1 cyclin-dependent kinase 5, regulatory subunit 1 (p35)
CDK7 cyclin-dependent kinase 7
CDKN2A cyclin-dependent kinase inhibitor 2A
CDX2 caudal type homeobox 2
CHPT1 choline phosphotransferase 1
CIP2A cellular inhibitor of PP2A
CLN3 ceroid-lipofuscinosis, neuronal 3
COL18A1 collagen, type XVIII, alpha 1
COX1
COX2
CRK v-crk avian sarcoma virus CT10 oncogene homolog
CRTC1 CREB regulated transcription coactivator 1
CSF2 colony stimulating factor 2 (granulocyte-macrophage)
CTLA4 cytotoxic T-lymphocyte-associated protein 4
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
CXCL8 chemokine (C-X-C motif) ligand 8
DBH dopamine beta-hydroxylase (dopamine beta-monooxygenase)
DCTN6 dynactin 6
DCX doublecortin
DDIT4 DNA-damage-inducible transcript 4
DECR1 2,4-dienoyl CoA reductase 1, mitochondrial
DEPDC5 DEP domain containing 5
DHDDS dehydrodolichyl diphosphate synthase
DKK1 dickkopf WNT signaling pathway inhibitor 1
EGF epidermal growth factor
EGFR epidermal growth factor receptor
EIF4EBP1 eukaryotic translation initiation factor 4E binding protein 1
EIF4G1 eukaryotic translation initiation factor 4 gamma, 1
ELOC elongin C
EPHB2 EPH receptor B2
EREG epiregulin
FCN2 ficolin (collagen/fibrinogen domain containing lectin) 2
FLCN folliculin
FLNA filamin A, alpha
FLT1 fms-related tyrosine kinase 1
FLT4 fms-related tyrosine kinase 4
FMR1 fragile X mental retardation 1
FUZ fuzzy planar cell polarity protein
GABPA GA binding protein transcription factor, alpha subunit 60kDa
GC group-specific component (vitamin D binding protein)
GCHFR GTP cyclohydrolase I feedback regulator
GCLC glutamate-cysteine ligase, catalytic subunit
GFAP glial fibrillary acidic protein
GH1 growth hormone 1
GJA1 gap junction protein, alpha 1, 43kDa
GLRX3 glutaredoxin 3
GNA11 guanine nucleotide binding protein (G protein), alpha 11 (Gq class)
GNA12 guanine nucleotide binding protein (G protein) alpha 12
GPT glutamic-pyruvate transaminase (alanine aminotransferase)
GRAP2 GRB2-related adaptor protein 2
GRHL3 grainyhead-like 3 (Drosophila)
GRIN2C glutamate receptor, ionotropic, N-methyl D-aspartate 2C
GRM5 glutamate receptor, metabotropic 5
GRN granulin
GSK3B glycogen synthase kinase 3 beta
HCRT hypocretin (orexin) neuropeptide precursor
HEXDC hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing
HGF hepatocyte growth factor (hepapoietin A; scatter factor)
HMBS hydroxymethylbilane synthase
HMGA2 high mobility group AT-hook 2
HRAS Harvey rat sarcoma viral oncogene homolog
HTR2C 5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled
ICAM1 intercellular adhesion molecule 1
IFI27 interferon, alpha-inducible protein 27
IFNG interferon, gamma
IGF1 insulin-like growth factor 1 (somatomedin C)
IKBKB inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta
IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
IL12A interleukin 12A
IL17A interleukin 17A
IL1B interleukin 1, beta
IL21 interleukin 21
IL21R interleukin 21 receptor
IL22 interleukin 22
IL23A interleukin 23, alpha subunit p19
IL4 interleukin 4
IL6 interleukin 6
IL6ST interleukin 6 signal transducer
ING2 inhibitor of growth family, member 2
INHA inhibin, alpha
IRF7 interferon regulatory factor 7
IRS1 insulin receptor substrate 1
IRS2 insulin receptor substrate 2
KIF1A kinesin family member 1A
KLF4 Kruppel-like factor 4 (gut)
KRAS Kirsten rat sarcoma viral oncogene homolog
LAMC2 laminin, gamma 2
LAT linker for activation of T cells
LIG4 ligase IV, DNA, ATP-dependent
LILRB2 leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2
LINGO1 leucine rich repeat and Ig domain containing 1
LOC101060233 medium-wave-sensitive opsin 1
LOC105375355 uroplakin-3b
LRPPRC leucine-rich pentatricopeptide repeat containing
MAPK1 mitogen-activated protein kinase 1
MAPK14 mitogen-activated protein kinase 14
MAPK3 mitogen-activated protein kinase 3
MARCH10 membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase
MEN1 multiple endocrine neoplasia I
MFAP1 microfibrillar-associated protein 1
MLYCD malonyl-CoA decarboxylase
MME membrane metallo-endopeptidase
MMP2 matrix metallopeptidase 2
MNAT1 MNAT CDK-activating kinase assembly factor 1
MPP2 membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)
MTOR mechanistic target of rapamycin (serine/threonine kinase)
MTTP microsomal triglyceride transfer protein
MUC1 mucin 1, cell surface associated
MYC v-myc avian myelocytomatosis viral oncogene homolog
MYO1B myosin IB
NES nestin
NEUROG2 neurogenin 2
NF1 neurofibromin 1
NFE2L2 nuclear factor, erythroid 2-like 2
NFKB1 nuclear factor of kappa light polypeptide gene enhancer in B-cells 1
NGF nerve growth factor (beta polypeptide)
NGFRAP1 nerve growth factor receptor (TNFRSF16) associated protein 1
NOTCH1 notch 1
NOX4 NADPH oxidase 4
NPC1 Niemann-Pick disease, type C1
NQO1 NAD(P)H dehydrogenase, quinone 1
NTF3 neurotrophin 3
NTF4 neurotrophin 4
OGA O-GlcNAcase
OGG1 8-oxoguanine DNA glycosylase
OPN1MW opsin 1 (cone pigments), medium-wave-sensitive
OPN1MW2 opsin 1 (cone pigments), medium-wave-sensitive 2
OPN1SW opsin 1 (cone pigments), short-wave-sensitive
ORAI1 ORAI calcium release-activated calcium modulator 1
PAH phenylalanine hydroxylase
PAK2 p21 protein (Cdc42/Rac)-activated kinase 2
PAM peptidylglycine alpha-amidating monooxygenase
PARK7 parkinson protein 7
PCNA proliferating cell nuclear antigen
PDCD1 programmed cell death 1
PDGFRB platelet-derived growth factor receptor, beta polypeptide
PEX13 peroxisomal biogenesis factor 13
PHLPP1 PH domain and leucine rich repeat protein phosphatase 1
PIK3C3 phosphatidylinositol 3-kinase, catalytic subunit type 3
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PIK3CB phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta
PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta
PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma
PIM3 Pim-3 proto-oncogene, serine/threonine kinase
PITX1 paired-like homeodomain 1
PKD1 polycystic kidney disease 1 (autosomal dominant)
PLA2G1B phospholipase A2, group IB (pancreas)
PLB1 phospholipase B1
PLCD1 phospholipase C, delta 1
PLG plasminogen
POLDIP2 polymerase (DNA-directed), delta interacting protein 2
POMC proopiomelanocortin
PPP1R15A protein phosphatase 1, regulatory subunit 15A
PRDX1 peroxiredoxin 1
PRKAA1 protein kinase, AMP-activated, alpha 1 catalytic subunit
PRKAA2 protein kinase, AMP-activated, alpha 2 catalytic subunit
PRKAB1 protein kinase, AMP-activated, beta 1 non-catalytic subunit
PRKD1 protein kinase D1
PRRX1 paired related homeobox 1
PSMD9 proteasome (prosome, macropain) 26S subunit, non-ATPase, 9
PTEN phosphatase and tensin homolog
PTGS1 prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)
PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)
PTK2B protein tyrosine kinase 2 beta
PTPN4 protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)
PVALB parvalbumin
RABGEF1 RAB guanine nucleotide exchange factor (GEF) 1
RALGAPB Ral GTPase activating protein, beta subunit (non-catalytic)
RAP1A RAP1A, member of RAS oncogene family
RAP1GAP RAP1 GTPase activating protein
RASA1 RAS p21 protein activator (GTPase activating protein) 1
RBBP4 retinoblastoma binding protein 4
RGS6 regulator of G-protein signaling 6
RHEB Ras homolog enriched in brain
RIPK2 receptor-interacting serine-threonine kinase 2
RMDN1 regulator of microtubule dynamics 1
RMDN2 regulator of microtubule dynamics 2
RMDN3 regulator of microtubule dynamics 3
RNF19A ring finger protein 19A, RBR E3 ubiquitin protein ligase
RPGRIP1L RPGRIP1-like
RPS6 ribosomal protein S6
RPS6KB1 ribosomal protein S6 kinase, 70kDa, polypeptide 1
RPTOR regulatory associated protein of MTOR, complex 1
S100A1 S100 calcium binding protein A1
S100B S100 calcium binding protein B
SDC2 syndecan 2
SDHB succinate dehydrogenase complex, subunit B, iron sulfur (Ip)
SGSM3 small G protein signaling modulator 3
SHOX short stature homeobox
SLC12A2 solute carrier family 12 (sodium/potassium/chloride transporter), member 2
SLC12A3 solute carrier family 12 (sodium/chloride transporter), member 3
SLC12A5 solute carrier family 12 (potassium/chloride transporter), member 5
SLC2A1 solute carrier family 2 (facilitated glucose transporter), member 1
SLC7A5 solute carrier family 7 (amino acid transporter light chain, L system), member 5
SOX9 SRY (sex determining region Y)-box 9
SPINT1 serine peptidase inhibitor, Kunitz type 1
SPP1 secreted phosphoprotein 1
SSSCA1 Sjogren syndrome/scleroderma autoantigen 1
ST14 suppression of tumorigenicity 14 (colon carcinoma)
STAT3 signal transducer and activator of transcription 3 (acute-phase response factor)
STIM1 stromal interaction molecule 1
STK11 serine/threonine kinase 11
SYBU syntabulin (syntaxin-interacting)
TBC1D7 TBC1 domain family, member 7
TBC1D9 TBC1 domain family, member 9 (with GRAM domain)
TCOF1 Treacher Collins-Franceschetti syndrome 1
TERF2IP telomeric repeat binding factor 2, interacting protein
TESC tescalcin
TFRC transferrin receptor
TICAM2 toll-like receptor adaptor molecule 2
TLR7 toll-like receptor 7
TMED7 transmembrane emp24 protein transport domain containing 7
TMED7-TICAM2 TMED7-TICAM2 readthrough
TNF tumor necrosis factor
TNFRSF11B tumor necrosis factor receptor superfamily, member 11b
TNFRSF12A tumor necrosis factor receptor superfamily, member 12A
TNFSF13B tumor necrosis factor (ligand) superfamily, member 13b
TP53 tumor protein p53
TRIM31 tripartite motif containing 31
TRPC4 transient receptor potential cation channel, subfamily C, member 4
TSC1 tuberous sclerosis 1
TSC2 tuberous sclerosis 2
TYMS thymidylate synthetase
TYR tyrosinase
UBASH3B ubiquitin associated and SH3 domain containing B
UTS2 urotensin 2
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
VEGFA vascular endothelial growth factor A
VEGFC vascular endothelial growth factor C
VIM vimentin
WDR45 WD repeat domain 45
WDR45B WD repeat domain 45B
WNT3A wingless-type MMTV integration site family, member 3A
YWHAB tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta
YWHAZ tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta