Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 7249
Gene Symbol: TSC2
TSC2
TSC complex subunit 2 0.439 0.808 1.00
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
disease 1.000 definitive 0.980 384 23 1994 2020
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
TSC complex subunit 1 0.440 0.808 1.00
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
disease 0.900 definitive 0.981 310 6 1990 2020
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
mechanistic target of rapamycin kinase 0.343 0.885 1.00
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
disease 0.100 None 0.993 137 0 2002 2020
Entrez Id: 6559
Gene Symbol: SLC12A3
SLC12A3
solute carrier family 12 member 3 0.493 0.808 3.0E-32
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
disease 0.100 None 0.970 33 0 1990 2019
Entrez Id: 54997
Gene Symbol: TESC
TESC
tescalcin 0.570 0.692 0.11
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
disease 0.100 None 0.970 33 0 1990 2019
Entrez Id: 5310
Gene Symbol: PKD1
PKD1
polycystin 1, transient receptor potential channel interacting 0.493 0.769 1.00
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
disease 0.100 None 1.000 15 1 1994 2018
Entrez Id: 5293
Gene Symbol: PIK3CD
PIK3CD
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta 0.319 0.885 1.00
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
disease 0.100 None 0.917 12 2 2003 2019
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha 0.292 0.923 1.00
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
disease 0.100 None 0.917 12 0 2003 2019
Entrez Id: 5291
Gene Symbol: PIK3CB
PIK3CB
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta 0.322 0.885 1.00
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
disease 0.100 None 0.917 12 1 2003 2019
Entrez Id: 5294
Gene Symbol: PIK3CG
PIK3CG
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma 0.320 0.885 1.4E-06
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
disease 0.100 None 0.917 12 0 2003 2019
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
disease 0.080 None 0.875 8 0 2009 2019
Entrez Id: 7157
Gene Symbol: TP53
TP53
tumor protein p53 0.236 0.962 0.53
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
disease 0.070 None 0.857 7 0 1996 2019
Entrez Id: 207
Gene Symbol: AKT1
AKT1
AKT serine/threonine kinase 1 0.311 0.962 0.98
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
disease 0.070 None 1.000 7 0 2004 2019
Entrez Id: 6794
Gene Symbol: STK11
STK11
serine/threonine kinase 11 0.435 0.808 0.99
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
disease 0.060 None 1.000 6 0 2004 2017
Entrez Id: 3479
Gene Symbol: IGF1
IGF1
insulin like growth factor 1 0.318 0.885 0.27
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
disease 0.050 None 1.000 5 0 2007 2019
Entrez Id: 5921
Gene Symbol: RASA1
RASA1
RAS p21 protein activator 1 0.481 0.885 1.00
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
disease 0.040 None 1.000 4 0 2003 2016
Entrez Id: 6198
Gene Symbol: RPS6KB1
RPS6KB1
ribosomal protein S6 kinase B1 0.511 0.731 0.97
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
disease 0.050 None 1.000 4 0 2006 2019
Entrez Id: 7298
Gene Symbol: TYMS
TYMS
thymidylate synthetase 0.425 0.846 0.72
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
disease 0.040 None 0.750 4 0 2004 2011
Entrez Id: 5594
Gene Symbol: MAPK1
MAPK1
mitogen-activated protein kinase 1 0.330 0.923 1.00
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
disease 0.030 None 1.000 3 0 2009 2019
Entrez Id: 7421
Gene Symbol: VDR
VDR
vitamin D receptor 0.352 0.885 1.7E-05
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
disease 0.030 None 1.000 3 0 2011 2020
Entrez Id: 673
Gene Symbol: BRAF
BRAF
B-Raf proto-oncogene, serine/threonine kinase 0.319 0.846 1.00
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
disease 0.030 None 0.333 3 2 2015 2017
Entrez Id: 5587
Gene Symbol: PRKD1
PRKD1
protein kinase D1 0.531 0.846 6.6E-07
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
disease 0.030 None 1.000 3 0 1997 2014
Entrez Id: 5564
Gene Symbol: PRKAB1
PRKAB1
protein kinase AMP-activated non-catalytic subunit beta 1 0.460 0.846 5.3E-03
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
disease 0.030 None 1.000 3 0 2010 2017
Entrez Id: 3569
Gene Symbol: IL6
IL6
interleukin 6 0.248 0.962 0.32
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
disease 0.030 None 1.000 3 0 2010 2018
Entrez Id: 5563
Gene Symbol: PRKAA2
PRKAA2
protein kinase AMP-activated catalytic subunit alpha 2 0.456 0.846 3.5E-08
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
disease 0.030 None 1.000 3 0 2010 2017