Source: ALL
Gene UniProt Gene Full Name Protein Class N. diseases g DSI g DPI g pLI Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
P11166 solute carrier family 2 member 1 Transporter 687 0.388 0.808 0.99 0.700 strong 1.000 22 4 1998 2018
Entrez Id: 6904
Gene Symbol: TBCD
TBCD
Q9BTW9 tubulin folding cofactor D Cellular structure 129 0.599 0.615 1.0E-07 0.610 strong 1.000 3 0 2016 2019
Entrez Id: 2593
Gene Symbol: GAMT
GAMT
Q14353 guanidinoacetate N-methyltransferase 62 0.691 0.269 9.5E-03 0.600 strong 1.000 2 0 2005 2014
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
O43526 potassium voltage-gated channel subfamily Q member 2 Ion channel 175 0.537 0.654 1.00 0.500 None 1.000 40 22 1984 2019
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
O76039 cyclin dependent kinase like 5 Kinase 224 0.522 0.692 1.00 0.500 None 1.000 39 3 2005 2019
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
P51608 methyl-CpG binding protein 2 Epigenetic regulator 664 0.414 0.846 0.89 0.500 None 0.923 26 11 2000 2019
Entrez Id: 627
Gene Symbol: BDNF
BDNF
P23560 brain derived neurotrophic factor Signaling 992 0.345 0.923 0.66 0.500 None 0.952 21 0 1997 2020
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
Q92574 TSC complex subunit 1 391 0.440 0.808 1.00 0.500 None 0.933 15 3 1998 2019
Entrez Id: 7249
Gene Symbol: TSC2
TSC2
P49815 TSC complex subunit 2 Enzyme modulator 410 0.439 0.808 1.00 0.500 None 1.000 15 1 1996 2019
Entrez Id: 351
Gene Symbol: APP
APP
P05067 amyloid beta precursor protein Enzyme modulator 485 0.422 0.846 4.7E-02 0.500 strong 1.000 14 1 2009 2019
Entrez Id: 3954
Gene Symbol: LETM1
LETM1
O95202 leucine zipper and EF-hand containing transmembrane protein 1 Transporter 188 0.545 0.692 1.2E-06 0.500 None 0.900 10 0 2001 2019
Entrez Id: 2670
Gene Symbol: GFAP
GFAP
P14136 glial fibrillary acidic protein 447 0.421 0.885 1.5E-06 0.460 strong 1.000 7 1 2006 2019
Entrez Id: 2290
Gene Symbol: FOXG1
FOXG1
P55316 forkhead box G1 224 0.522 0.692 0.94 0.450 None 1.000 6 0 2008 2019
Entrez Id: 249
Gene Symbol: ALPL
ALPL
P05186 alkaline phosphatase, biomineralization associated Enzyme 190 0.546 0.769 3.6E-04 0.450 None 1.000 5 2 1995 2016
Entrez Id: 1137
Gene Symbol: CHRNA4
CHRNA4
P43681 cholinergic receptor nicotinic alpha 4 subunit Ion channel 248 0.492 0.808 8.5E-05 0.440 None 1.000 15 1 1999 2019
Entrez Id: 1139
Gene Symbol: CHRNA7
CHRNA7
P36544 Q494W8 cholinergic receptor nicotinic alpha 7 subunit Ion channel 172 0.532 0.654 4.2E-04 0.440 None 1.000 9 0 1998 2017
Entrez Id: 3418
Gene Symbol: IDH2
IDH2
P48735 isocitrate dehydrogenase (NADP(+)) 2 380 0.434 0.808 0.88 0.440 None 0.800 5 0 2012 2019
Entrez Id: 348980
Gene Symbol: HCN1
HCN1
O60741 hyperpolarization activated cyclic nucleotide gated potassium channel 1 157 0.564 0.654 1.00 0.440 None 1.000 5 0 2008 2019
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
P42898 methylenetetrahydrofolate reductase 985 0.337 0.885 3.2E-10 0.440 strong 1.000 5 2 1998 2020
Entrez Id: 5428
Gene Symbol: POLG
POLG
P54098 DNA polymerase gamma, catalytic subunit Enzyme 462 0.457 0.846 2.1E-09 0.430 None 1.000 79 11 2001 2019
Entrez Id: 2752
Gene Symbol: GLUL
GLUL
P15104 glutamate-ammonia ligase Enzyme 200 0.513 0.731 1.00 0.430 strong 1.000 4 0 2001 2019
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
P16389 potassium voltage-gated channel subfamily A member 2 Ion channel 111 0.612 0.577 0.91 0.430 None 0.750 4 0 2015 2019
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11
Q14654 potassium inwardly rectifying channel subfamily J member 11 Ion channel 218 0.529 0.615 1.1E-02 0.430 None 1.000 4 1 2007 2018
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
Q14683 structural maintenance of chromosomes 1A 251 0.509 0.808 1.00 0.420 strong 1.000 3 1 2015 2019
Entrez Id: 1103
Gene Symbol: CHAT
CHAT
P28329 choline O-acetyltransferase Enzyme 230 0.520 0.808 5.6E-11 0.410 None 1.000 2 0 2010 2019