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: 100151683
Gene Symbol: RNU4ATAC
RNU4ATAC 		RNA, U4atac small nuclear (U12-dependent splicing) 199 0.556 0.808 0.100 None 0 2
Entrez Id: 100532724
Gene Symbol: NPHP3-ACAD11
NPHP3-ACAD11 		NPHP3-ACAD11 readthrough (NMD candidate) 82 0.663 0.577 0.100 None 0 2
Entrez Id: 8701
Gene Symbol: DNAH11
DNAH11 		Q96DT5 dynein axonemal heavy chain 11 Enzyme 110 0.587 0.692 2.5E-58 0.100 None 0 2
Entrez Id: 284217
Gene Symbol: LAMA1
LAMA1 		P25391 laminin subunit alpha 1 107 0.582 0.808 3.2E-32 0.100 None 0 1
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8 		Q09428 ATP binding cassette subfamily C member 8 Transporter 317 0.474 0.846 8.0E-24 0.100 None 0 2
Entrez Id: 56052
Gene Symbol: ALG1
ALG1 		Q9BT22 ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase Enzyme 95 0.610 0.808 3.6E-19 0.100 None 0 3
Entrez Id: 4285
Gene Symbol: MIPEP
MIPEP 		Q99797 mitochondrial intermediate peptidase Enzyme 69 0.666 0.615 1.6E-15 0.100 None 0 1
Entrez Id: 93627
Gene Symbol: TBCK
TBCK 		Q8TEA7 TBC1 domain containing kinase Kinase 85 0.650 0.654 2.1E-15 0.100 None 0 1
Entrez Id: 171023
Gene Symbol: ASXL1
ASXL1 		Q8IXJ9 ASXL transcriptional regulator 1 296 0.482 0.808 1.3E-14 0.100 None 0 1
Entrez Id: 9772
Gene Symbol: TMEM94
TMEM94 		Q12767 transmembrane protein 94 103 0.628 0.654 2.8E-14 0.100 None 0 2
Entrez Id: 1103
Gene Symbol: CHAT
CHAT 		P28329 choline O-acetyltransferase Enzyme 230 0.520 0.808 5.6E-11 0.100 None 0 2
Entrez Id: 10939
Gene Symbol: AFG3L2
AFG3L2 		Q9Y4W6 AFG3 like matrix AAA peptidase subunit 2 Enzyme 123 0.588 0.462 5.3E-09 0.100 None 1.000 1 1 2010 2010
Entrez Id: 79053
Gene Symbol: ALG8
ALG8 		Q9BVK2 ALG8 alpha-1,3-glucosyltransferase Enzyme 64 0.659 0.577 1.2E-08 0.100 None 0 1
Entrez Id: 134728
Gene Symbol: IRAK1BP1
IRAK1BP1 		Q5VVH5 interleukin 1 receptor associated kinase 1 binding protein 1 24 0.780 0.346 1.4E-06 0.100 None 0 2
Entrez Id: 84617
Gene Symbol: TUBB6
TUBB6 		Q9BUF5 tubulin beta 6 class V Cellular structure 46 0.686 0.462 1.7E-04 0.100 None 1.000 1 1 2010 2010
Entrez Id: 79876
Gene Symbol: UBA5
UBA5 		Q9GZZ9 ubiquitin like modifier activating enzyme 5 Enzyme 150 0.582 0.731 2.5E-04 0.100 None 0 2
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1 		O75398 DEAF1 transcription factor 156 0.575 0.615 3.4E-04 0.100 None 1.000 2 2 2017 2017
Entrez Id: 23221
Gene Symbol: RHOBTB2
RHOBTB2 		Q9BYZ6 Rho related BTB domain containing 2 Enzyme modulator 76 0.631 0.615 1.3E-02 0.100 None 0 1
Entrez Id: 158293
Gene Symbol: FAM120AOS
FAM120AOS 		Q5T036 family with sequence similarity 120A opposite strand 9 0.861 0.154 2.2E-02 0.100 None 0 1
Entrez Id: 84294
Gene Symbol: UTP23
UTP23 		Q9BRU9 UTP23 small subunit processome component 29 0.711 0.385 8.6E-02 0.100 None 1.000 1 1 2019 2019
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A 		P84243 H3.3 histone A 134 0.559 0.692 0.12 0.100 None 0 1
Entrez Id: 7355
Gene Symbol: SLC35A2
SLC35A2 		P78381 solute carrier family 35 member A2 Transporter 197 0.525 0.808 0.72 0.100 None 1.000 1 1 2019 2019
Entrez Id: 7703
Gene Symbol: PCGF2
PCGF2 		P35227 polycomb group ring finger 2 114 0.579 0.615 0.86 0.100 None 0 1
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		P51608 methyl-CpG binding protein 2 Epigenetic regulator 664 0.414 0.846 0.89 0.100 None 0 1
Entrez Id: 2290
Gene Symbol: FOXG1
FOXG1 		P55316 forkhead box G1 224 0.522 0.692 0.94 0.100 None 0 1