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: 51412
Gene Symbol: ACTL6B
ACTL6B
O94805 actin like 6B Cellular structure 100 0.656 0.462 2.8E-04 0.100 None 1.000 1 1 2019 2019
Entrez Id: 8120
Gene Symbol: AP3B2
AP3B2
Q13367 adaptor related protein complex 3 subunit beta 2 Transporter 60 0.691 0.346 0.77 0.100 None 0 0
Entrez Id: 158
Gene Symbol: ADSL
ADSL
P30566 adenylosuccinate lyase Enzyme 84 0.631 0.654 8.9E-12 0.100 None 0 0
Entrez Id: 10564
Gene Symbol: ARFGEF2
ARFGEF2
Q9Y6D5 ADP ribosylation factor guanine nucleotide exchange factor 2 52 0.659 0.462 1.00 0.100 None 0 0
Entrez Id: 79868
Gene Symbol: ALG13
ALG13
Q9NP73 ALG13 UDP-N-acetylglucosaminyltransferase subunit 98 0.631 0.577 1.00 0.100 None 0 0
Entrez Id: 5917
Gene Symbol: RARS1
RARS1
P54136 arginyl-tRNA synthetase 1 94 0.604 0.538 3.3E-08 0.100 None 0 0
Entrez Id: 23287
Gene Symbol: AGTPBP1
AGTPBP1
Q9UPW5 ATP/GTP binding protein 1 Enzyme 63 0.650 0.538 0.42 0.100 None 0 0
Entrez Id: 9254
Gene Symbol: CACNA2D2
CACNA2D2
Q9NY47 calcium voltage-gated channel auxiliary subunit alpha2delta 2 Ion channel 78 0.626 0.615 1.00 0.100 None 0 0
Entrez Id: 10978
Gene Symbol: CLP1
CLP1
Q92989 cleavage factor polyribonucleotide kinase subunit 1 Nucleic acid binding 58 0.700 0.385 0.20 0.100 None 0 0
Entrez Id: 1291
Gene Symbol: COL6A1
COL6A1
P12109 collagen type VI alpha 1 chain Receptor 164 0.587 0.731 1.00 0.100 None 0 1
Entrez Id: 23316
Gene Symbol: CUX2
CUX2
O14529 cut like homeobox 2 Transcription factor 87 0.644 0.500 1.00 0.100 None 0 0
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
O76039 cyclin dependent kinase like 5 Kinase 224 0.522 0.692 1.00 0.100 None 0 0
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1
O75398 DEAF1 transcription factor 156 0.575 0.615 3.4E-04 0.100 None 0 0
Entrez Id: 55572
Gene Symbol: FOXRED1
FOXRED1
Q96CU9 FAD dependent oxidoreductase domain containing 1 Enzyme 91 0.633 0.462 2.0E-16 0.100 None 0 0
Entrez Id: 9758
Gene Symbol: FRMPD4
FRMPD4
Q14CM0 FERM and PDZ domain containing 4 68 0.674 0.423 1.00 0.100 None 0 0
Entrez Id: 2332
Gene Symbol: FMR1
FMR1
Q06787 FMRP translational regulator 1 Nucleic acid binding 346 0.473 0.769 0.65 0.100 None 0 0
Entrez Id: 201163
Gene Symbol: FLCN
FLCN
Q8NFG4 folliculin 160 0.537 0.885 0.79 0.100 None 0 0
Entrez Id: 2290
Gene Symbol: FOXG1
FOXG1
P55316 forkhead box G1 224 0.522 0.692 0.94 0.100 None 0 0
Entrez Id: 85476
Gene Symbol: GFM1
GFM1
Q96RP9 G elongation factor mitochondrial 1 74 0.623 0.692 9.3E-13 0.100 None 0 0
Entrez Id: 4935
Gene Symbol: GPR143
GPR143
P51810 G protein-coupled receptor 143 G-protein coupled receptor 47 0.659 0.385 0.93 0.100 None 0 1
Entrez Id: 10243
Gene Symbol: GPHN
GPHN
Q9NQX3 gephyrin 104 0.608 0.538 1.00 0.100 None 0 0
Entrez Id: 2892
Gene Symbol: GRIA3
GRIA3
P42263 glutamate ionotropic receptor AMPA type subunit 3 Ion channel 127 0.566 0.692 1.00 0.100 None 0 0
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
Q05586 glutamate ionotropic receptor NMDA type subunit 1 Ion channel 150 0.561 0.692 0.98 0.100 None 0 0
Entrez Id: 2643
Gene Symbol: GCH1
GCH1
P30793 GTP cyclohydrolase 1 Enzyme 254 0.511 0.846 0.90 0.100 None 0 1
Entrez Id: 3658
Gene Symbol: IREB2
IREB2
P48200 iron responsive element binding protein 2 Enzyme 82 0.619 0.577 1.00 0.100 None 0 0