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: 10159
Gene Symbol: ATP6AP2
ATP6AP2
O75787 ATPase H+ transporting accessory protein 2 Receptor 184 0.525 0.769 0.87 0.100 None 0 0
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
Q9ULP9 TBC1 domain family member 24 Enzyme modulator 218 0.530 0.808 1.3E-08 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: 6326
Gene Symbol: SCN2A
SCN2A
Q99250 sodium voltage-gated channel alpha subunit 2 Ion channel 232 0.518 0.731 1.00 0.100 None 0 0
Entrez Id: 64207
Gene Symbol: IRF2BPL
IRF2BPL
Q9H1B7 interferon regulatory factor 2 binding protein like 120 0.631 0.462 0.84 0.100 None 0 1
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: 6812
Gene Symbol: STXBP1
STXBP1
P61764 syntaxin binding protein 1 Transporter 213 0.532 0.692 1.00 0.100 None 0 0
Entrez Id: 686
Gene Symbol: BTD
BTD
P43251 biotinidase Enzyme 90 0.628 0.654 1.5E-07 0.100 None 0 0
Entrez Id: 6904
Gene Symbol: TBCD
TBCD
Q9BTW9 tubulin folding cofactor D Cellular structure 129 0.599 0.615 1.0E-07 0.100 None 0 0
Entrez Id: 6908
Gene Symbol: TBP
TBP
P20226 TATA-box binding protein Transcription factor 158 0.552 0.846 1.5E-02 0.100 None 0 0
Entrez Id: 79587
Gene Symbol: CARS2
CARS2
Q9HA77 cysteinyl-tRNA synthetase 2, mitochondrial Enzyme 49 0.700 0.423 9.6E-08 0.100 None 0 0
Entrez Id: 79751
Gene Symbol: SLC25A22
SLC25A22
Q9H936 solute carrier family 25 member 22 Transporter 106 0.595 0.577 6.6E-03 0.100 None 0 0
Entrez Id: 81603
Gene Symbol: TRIM8
TRIM8
Q9BZR9 tripartite motif containing 8 121 0.588 0.731 0.99 0.100 None 0 0
Entrez Id: 8573
Gene Symbol: CASK
CASK
O14936 calcium/calmodulin dependent serine protein kinase Kinase 193 0.538 0.808 1.00 0.100 None 0 0
Entrez Id: 8722
Gene Symbol: CTSF
CTSF
Q9UBX1 cathepsin F Enzyme 33 0.716 0.462 1.9E-13 0.100 None 0 0
Entrez Id: 9091
Gene Symbol: PIGQ
PIGQ
Q9BRB3 phosphatidylinositol glycan anchor biosynthesis class Q Enzyme 116 0.610 0.577 1.4E-06 0.100 None 0 0
Entrez Id: 5575
Gene Symbol: PRKAR1B
PRKAR1B
P31321 protein kinase cAMP-dependent type I regulatory subunit beta 45 0.716 0.385 0.18 0.100 None 0 0
Entrez Id: 51227
Gene Symbol: PIGP
PIGP
P57054 phosphatidylinositol glycan anchor biosynthesis class P 85 0.633 0.462 1.9E-03 0.100 None 0 0
Entrez Id: 10466
Gene Symbol: COG5
COG5
Q9UP83 component of oligomeric golgi complex 5 71 0.656 0.538 9.8E-20 0.100 None 0 0
Entrez Id: 10667
Gene Symbol: FARS2
FARS2
O95363 phenylalanyl-tRNA synthetase 2, mitochondrial Enzyme 89 0.615 0.731 9.3E-09 0.100 None 0 0
Entrez Id: 11284
Gene Symbol: PNKP
PNKP
Q96T60 polynucleotide kinase 3'-phosphatase 163 0.553 0.692 3.7E-14 0.100 None 0 0
Entrez Id: 150094
Gene Symbol: SIK1
SIK1
A0A0B4J2F2 P57059 salt inducible kinase 1 Kinase 157 0.544 0.731 0.94 0.100 None 0 0
Entrez Id: 170302
Gene Symbol: ARX
ARX
Q96QS3 aristaless related homeobox 249 0.516 0.654 0.91 0.100 None 0 0
Entrez Id: 22796
Gene Symbol: COG2
COG2
Q14746 component of oligomeric golgi complex 2 30 0.729 0.423 9.4E-06 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