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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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
Entrez Id: 23158
Gene Symbol: TBC1D9
TBC1D9
TBC1 domain family member 9 0.399 0.846 2.8E-05
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
disease 0.010 None 1.000 1 0 1999 1999
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: 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: 6473
Gene Symbol: SHOX
SHOX
short stature homeobox 0.561 0.654 0.67
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
disease 0.010 None 1.000 1 0 2001 2001
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: 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: 627
Gene Symbol: BDNF
BDNF
brain derived neurotrophic factor 0.345 0.923 0.66
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
disease 0.010 None 1.000 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: 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: 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: 4908
Gene Symbol: NTF3
NTF3
neurotrophin 3 0.519 0.808 0.93
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
disease 0.010 None 1.000 1 0 2001 2001