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: 84707
Gene Symbol: BEX2
BEX2
brain expressed X-linked 2 0.705 0.231 0.10
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
disease 0.010 None 1.000 1 0 2015 2015
Entrez Id: 2905
Gene Symbol: GRIN2C
GRIN2C
glutamate ionotropic receptor NMDA type subunit 2C 0.792 0.269 2.3E-07
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
disease 0.010 None 1.000 1 0 2014 2014
Entrez Id: 56270
Gene Symbol: WDR45B
WDR45B
WD repeat domain 45B 0.760 0.269 0.16
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
disease 0.010 None 1.000 1 0 2017 2017
Entrez Id: 284004
Gene Symbol: HEXD
HEXD
hexosaminidase D 0.780 0.308 4.3E-11
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
disease 0.010 None 1.000 1 0 2002 2002
Entrez Id: 4355
Gene Symbol: MPP2
MPP2
membrane palmitoylated protein 2 0.780 0.308 2.9E-07
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
disease 0.010 None 1.000 1 0 2001 2001
Entrez Id: 27018
Gene Symbol: BEX3
BEX3
brain expressed X-linked 3 0.780 0.346 0.62
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
disease 0.010 None 1.000 1 0 2007 2007
Entrez Id: 51256
Gene Symbol: TBC1D7
TBC1D7
TBC1 domain family member 7 0.729 0.385 2.9E-12
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
disease 0.030 None 1.000 3 0 2013 2018
Entrez Id: 100188864
Gene Symbol: IH
IH
Hemihypertrophy 0.751 0.385
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
disease 0.010 None 1.000 1 0 2016 2016
Entrez Id: 100380873
Gene Symbol: FECD3
FECD3
Corneal dystrophy, Fuchs endothelial, 3 0.769 0.385
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
disease 0.010 None 1.000 1 0 2016 2016
Entrez Id: 1243
Gene Symbol: CMM
CMM
cutaneous malignant melanoma/dysplastic nevus 0.670 0.385
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
disease 0.010 None 1.000 1 0 1996 1996
Entrez Id: 84894
Gene Symbol: LINGO1
LINGO1
leucine rich repeat and Ig domain containing 1 0.682 0.385 0.99
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
disease 0.010 None 1.000 1 0 2012 2012
Entrez Id: 100126311
Gene Symbol: MIR147B
MIR147B
microRNA 147b 0.736 0.423
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
disease 0.020 None 1.000 2 0 2018 2019
Entrez Id: 11152
Gene Symbol: WDR45
WDR45
WD repeat domain 45 0.647 0.423 0.99
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
disease 0.010 None 1.000 1 0 2017 2017
Entrez Id: 162333
Gene Symbol: MARCHF10
MARCHF10
membrane associated ring-CH-type finger 10 0.716 0.500 3.3E-24
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
disease 0.010 None 1.000 1 0 2016 2016
Entrez Id: 5909
Gene Symbol: RAP1GAP
RAP1GAP
RAP1 GTPase activating protein 0.626 0.500 0.84
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
disease 0.010 None 1.000 1 0 2003 2003
Entrez Id: 63973
Gene Symbol: NEUROG2
NEUROG2
neurogenin 2 0.716 0.500 0.81
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 6921
Gene Symbol: ELOC
ELOC
elongin C 0.656 0.500 0.74
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 7223
Gene Symbol: TRPC4
TRPC4
transient receptor potential cation channel subfamily C member 4 0.695 0.500 0.48
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
disease 0.010 None 1.000 1 0 2017 2017
Entrez Id: 5775
Gene Symbol: PTPN4
PTPN4
protein tyrosine phosphatase non-receptor type 4 0.633 0.538 1.00
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
disease 0.020 None 1.000 2 0 2018 2019
Entrez Id: 10539
Gene Symbol: GLRX3
GLRX3
glutaredoxin 3 0.686 0.538 0.36
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 4430
Gene Symbol: MYO1B
MYO1B
myosin IB 0.691 0.538 7.2E-05
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 5062
Gene Symbol: PAK2
PAK2
p21 (RAC1) activated kinase 2 0.653 0.538 0.97
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
disease 0.010 None 1.000 1 0 2015 2015
Entrez Id: 9681
Gene Symbol: DEPDC5
DEPDC5
DEP domain containing 5, GATOR1 subcomplex subunit 0.631 0.538 0.12
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
disease 0.010 None 1.000 1 0 2015 2015
Entrez Id: 11074
Gene Symbol: TRIM31
TRIM31
tripartite motif containing 31 0.626 0.577 4.3E-06
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 5333
Gene Symbol: PLCD1
PLCD1
phospholipase C delta 1 0.636 0.577 1.7E-19
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
disease 0.010 None 1.000 1 0 2017 2017