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: 100302736
Gene Symbol: TMED7-TICAM2
TMED7-TICAM2
TMED7-TICAM2 readthrough 0.438 0.769 2.6E-03
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
disease 0.010 None < 0.001 1 0 2001 2001
Entrez Id: 5715
Gene Symbol: PSMD9
PSMD9
proteasome 26S subunit, non-ATPase 9 0.435 0.846 4.9E-06
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
disease 0.010 None < 0.001 1 0 2001 2001
Entrez Id: 10534
Gene Symbol: ZNRD2
ZNRD2
zinc ribbon domain containing 2 0.443 0.769 1.8E-07
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
disease 0.010 None < 0.001 1 0 2001 2001
Entrez Id: 10671
Gene Symbol: DCTN6
DCTN6
dynactin subunit 6 0.442 0.769 5.6E-02
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
disease 0.010 None < 0.001 1 0 2001 2001
Entrez Id: 4311
Gene Symbol: MME
MME
membrane metalloendopeptidase 0.407 0.808 1.5E-18
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
disease 0.010 None < 0.001 1 0 2014 2014
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
solute carrier family 2 member 1 0.388 0.808 0.99
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
disease 0.010 None < 0.001 1 0 2011 2011
Entrez Id: 353376
Gene Symbol: TICAM2
TICAM2
toll like receptor adaptor molecule 2 0.438 0.769 2.6E-03
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
disease 0.010 None < 0.001 1 0 2001 2001
Entrez Id: 51014
Gene Symbol: TMED7
TMED7
transmembrane p24 trafficking protein 7 0.436 0.808 0.48
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
disease 0.010 None < 0.001 1 0 2001 2001
Entrez Id: 23600
Gene Symbol: AMACR
AMACR
alpha-methylacyl-CoA racemase 0.510 0.769 2.7E-02
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
disease 0.010 None < 0.001 1 0 2014 2014
Entrez Id: 115482696
Gene Symbol: H3P23
H3P23
H3 histone pseudogene 23 0.443 0.769
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
disease 0.010 None < 0.001 1 0 2001 2001
Entrez Id: 3429
Gene Symbol: IFI27
IFI27
interferon alpha inducible protein 27 0.437 0.769 1.1E-02
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
disease 0.010 None < 0.001 1 0 2001 2001
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
AT-rich interaction domain 1B 0.503 0.846 1.00
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
disease 0.010 None < 0.001 1 0 2019 2019
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: 7431
Gene Symbol: VIM
VIM
vimentin 0.372 0.846 0.71
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
disease 0.020 None 0.500 2 0 2014 2014
Entrez Id: 10344
Gene Symbol: CCL26
CCL26
C-C motif chemokine ligand 26 0.617 0.654 1.0E-02
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
disease 0.030 None 0.667 3 0 1992 2018
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: 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: 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: 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: 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: 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: 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: 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: 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: 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