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: 5340
Gene Symbol: PLG
PLG
plasminogen 0.389 0.923 1.0E-02
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
disease 0.010 None 1.000 1 0 1987 1987
Entrez Id: 28
Gene Symbol: ABO
ABO
ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase 0.427 0.885
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
disease 0.020 None 1.000 2 0 1989 1989
Entrez Id: 3145
Gene Symbol: HMBS
HMBS
hydroxymethylbilane synthase 0.559 0.731 0.95
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
disease 0.010 None 1.000 1 0 1989 1989
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: 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: 7299
Gene Symbol: TYR
TYR
tyrosinase 0.473 0.808 5.0E-32
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
disease 0.010 None 1.000 1 0 1991 1991
Entrez Id: 1621
Gene Symbol: DBH
DBH
dopamine beta-hydroxylase 0.511 0.846 3.3E-10
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
disease 0.010 None 1.000 1 0 1991 1991
Entrez Id: 5053
Gene Symbol: PAH
PAH
phenylalanine hydroxylase 0.516 0.769 6.4E-23
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
disease 0.010 None 1.000 1 0 1991 1991
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: 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: 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: 54386
Gene Symbol: TERF2IP
TERF2IP
TERF2 interacting protein 0.548 0.731 2.7E-05
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
disease 0.020 None 1.000 2 0 1995 2003
Entrez Id: 5906
Gene Symbol: RAP1A
RAP1A
RAP1A, member of RAS oncogene family 0.502 0.808 0.62
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
disease 0.020 None 1.000 2 0 1995 2003
Entrez Id: 27342
Gene Symbol: RABGEF1
RABGEF1
RAB guanine nucleotide exchange factor 1 0.550 0.731 6.3E-04
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
disease 0.020 None 1.000 2 0 1995 2003
Entrez Id: 4547
Gene Symbol: MTTP
MTTP
microsomal triglyceride transfer protein 0.505 0.846 1.0E-05
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
disease 0.010 None 1.000 1 0 1995 1995
Entrez Id: 25
Gene Symbol: ABL1
ABL1
ABL proto-oncogene 1, non-receptor tyrosine kinase 0.432 0.923 1.00
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
disease 0.010 None 1.000 1 0 1995 1995
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: 547
Gene Symbol: KIF1A
KIF1A
kinesin family member 1A 0.559 0.692 1.00
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
disease 0.010 None 1.000 1 0 1996 1996
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
cyclin dependent kinase inhibitor 2A 0.300 0.885 0.39
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
disease 0.010 None 1.000 1 0 1996 1996
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: 10763
Gene Symbol: NES
NES
nestin 0.450 0.808 1.6E-06
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
disease 0.010 None 1.000 1 0 1996 1996
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: 4221
Gene Symbol: MEN1
MEN1
menin 1 0.444 0.808 1.00
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
disease 0.020 None 1.000 2 0 1997 2010
Entrez Id: 2638
Gene Symbol: GC
GC
GC vitamin D binding protein 0.489 0.885 2.7E-11
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
disease 0.010 None 1.000 1 0 1997 1997