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: 9997
Gene Symbol: SCO2
SCO2 		O43819 synthesis of cytochrome C oxidase 2 Enzyme 294 0.479 0.846 7.5E-07 0.100 None 0 0
Entrez Id: 6899
Gene Symbol: TBX1
TBX1 		O43435 T-box transcription factor 1 Transcription factor 417 0.433 0.808 0.84 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: 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: 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: 65250
Gene Symbol: CPLANE1
CPLANE1 		Q9H799 ciliogenesis and planar polarity effector 1 120 0.575 0.692 5.9E-36 0.100 None 0 0
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2 		Q9H5I5 piezo type mechanosensitive ion channel component 2 Ion channel 224 0.529 0.769 8.1E-07 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: 55005
Gene Symbol: RMND1
RMND1 		Q9NWS8 required for meiotic nuclear division 1 homolog 59 0.674 0.462 1.1E-09 0.100 None 0 0
Entrez Id: 85358
Gene Symbol: SHANK3
SHANK3 		Q9BYB0 SH3 and multiple ankyrin repeat domains 3 169 0.550 0.731 1.00 0.100 None 0 0
Entrez Id: 5339
Gene Symbol: PLEC
PLEC 		Q15149 plectin Cellular structure 218 0.523 0.808 8.3E-12 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: 5087
Gene Symbol: PBX1
PBX1 		P40424 PBX homeobox 1 Transcription factor 167 0.534 0.846 1.00 0.100 None 0 0
Entrez Id: 4761
Gene Symbol: NEUROD2
NEUROD2 		Q15784 neuronal differentiation 2 Enzyme 86 0.619 0.538 0.94 0.100 None 0 0
Entrez Id: 4720
Gene Symbol: NDUFS2
NDUFS2 		O75306 NADH:ubiquinone oxidoreductase core subunit S2 Enzyme 142 0.601 0.654 1.4E-03 0.100 None 0 0
Entrez Id: 4714
Gene Symbol: NDUFB8
NDUFB8 		O95169 NADH:ubiquinone oxidoreductase subunit B8 Enzyme 84 0.638 0.654 7.5E-03 0.100 None 0 0
Entrez Id: 7707
Gene Symbol: ZNF148
ZNF148 		Q9UQR1 zinc finger protein 148 Transcription factor 81 0.615 0.654 1.00 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: 9786
Gene Symbol: KIAA0586
KIAA0586 		Q9BVV6 KIAA0586 157 0.565 0.731 5.1E-16 0.100 None 0 0
Entrez Id: 9742
Gene Symbol: IFT140
IFT140 		Q96RY7 intraflagellar transport 140 Cellular structure 124 0.572 0.692 9.9E-24 0.100 None 0 0
Entrez Id: 9215
Gene Symbol: LARGE1
LARGE1 		O95461 LARGE xylosyl- and glucuronyltransferase 1 Enzyme 182 0.526 0.654 0.99 0.100 None 0 0
Entrez Id: 9096
Gene Symbol: TBX18
TBX18 		O95935 T-box transcription factor 18 Transcription factor 31 0.695 0.231 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: 8626
Gene Symbol: TP63
TP63 		Q9H3D4 tumor protein p63 Transcription factor 816 0.362 0.769 1.00 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