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: 10585
Gene Symbol: POMT1
POMT1 		Q9Y6A1 protein O-mannosyltransferase 1 223 0.525 0.615 4.2E-17 0.100 None 0 0
Entrez Id: 55624
Gene Symbol: POMGNT1
POMGNT1 		Q8WZA1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) 188 0.537 0.538 1.9E-20 0.100 None 0 0
Entrez Id: 55823
Gene Symbol: VPS11
VPS11 		Q9H270 VPS11 core subunit of CORVET and HOPS complexes Transporter 79 0.633 0.654 1.9E-05 0.100 None 0 0
Entrez Id: 5654
Gene Symbol: HTRA1
HTRA1 		Q92743 HtrA serine peptidase 1 Enzyme 164 0.532 0.692 4.9E-04 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: 64857
Gene Symbol: PLEKHG2
PLEKHG2 		Q9H7P9 pleckstrin homology and RhoGEF domain containing G2 26 0.705 0.423 1.4E-09 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: 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: 6834
Gene Symbol: SURF1
SURF1 		Q15526 SURF1 cytochrome c oxidase assembly factor Enzyme 150 0.578 0.654 1.6E-13 0.100 None 0 0
Entrez Id: 79147
Gene Symbol: FKRP
FKRP 		Q9H9S5 fukutin related protein 248 0.513 0.731 9.8E-06 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: 84197
Gene Symbol: POMK
POMK 		Q9H5K3 protein O-mannose kinase Kinase 101 0.590 0.500 1.9E-08 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: 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: 92609
Gene Symbol: TIMM50
TIMM50 		Q3ZCQ8 translocase of inner mitochondrial membrane 50 50 0.678 0.500 1.8E-03 0.100 None 0 0
Entrez Id: 5393
Gene Symbol: EXOSC9
EXOSC9 		Q06265 exosome component 9 Enzyme 55 0.705 0.423 1.8E-11 0.100 None 0 1
Entrez Id: 5160
Gene Symbol: PDHA1
PDHA1 		P08559 pyruvate dehydrogenase E1 subunit alpha 1 129 0.581 0.538 0.99 0.100 None 0 1
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: 220296
Gene Symbol: HEPACAM
HEPACAM 		Q14CZ8 hepatic and glial cell adhesion molecule 70 0.621 0.500 0.87 0.100 None 0 0
Entrez Id: 25915
Gene Symbol: NDUFAF3
NDUFAF3 		Q9BU61 NADH:ubiquinone oxidoreductase complex assembly factor 3 101 0.650 0.577 5.3E-03 0.100 None 0 0
Entrez Id: 2775
Gene Symbol: GNAO1
GNAO1 		P09471 G protein subunit alpha o1 Enzyme modulator 188 0.523 0.808 0.99 0.100 None 0 0
Entrez Id: 29925
Gene Symbol: GMPPB
GMPPB 		Q9Y5P6 GDP-mannose pyrophosphorylase B 158 0.578 0.538 8.4E-07 0.100 None 0 0