Disease: Absent speech
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ACTL6B O94805 actin like 6B Cellular structure 2.8E-04 0.656 0.462
ASXL3 Q9C0F0 ASXL transcriptional regulator 3 1.00 0.590 0.577
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808
BICD2 Q8TD16 BICD cargo adaptor 2 0.98 0.615 0.731
CCDC88A Q3V6T2 coiled-coil domain containing 88A Enzyme modulator 1.00 0.610 0.615
CHAMP1 Q96JM3 chromosome alignment maintaining phosphoprotein 1 0.99 0.691 0.500
DEAF1 O75398 DEAF1 transcription factor 3.4E-04 0.575 0.615
DENND5A Q6IQ26 DENN domain containing 5A 5.8E-02 0.821 0.115
IQSEC2 Q5JU85 IQ motif and Sec7 domain ArfGEF 2 1.00 0.573 0.577
KIF1A Q12756 kinesin family member 1A Cellular structure 1.00 0.559 0.692
MAGEL2 Q9UJ55 MAGE family member L2 Cell adhesion 0.98 0.560 0.654
MED12 Q93074 mediator complex subunit 12 Transcription factor 1.00 0.476 0.769
MTOR P42345 mechanistic target of rapamycin kinase Kinase 1.00 0.343 0.885
NEXMIF Q5QGS0 neurite extension and migration factor 1.00 0.659 0.385
PARS2 Q7L3T8 prolyl-tRNA synthetase 2, mitochondrial Enzyme 4.1E-03 0.644 0.423
PIGN O95427 phosphatidylinositol glycan anchor biosynthesis class N Extracellular structure 2.3E-21 0.558 0.615
POGZ Q7Z3K3 pogo transposable element derived with ZNF domain Transcription factor 1.00 0.599 0.577
PPP2R1A P30153 protein phosphatase 2 scaffold subunit Aalpha Enzyme 0.98 0.588 0.577
PPP2R5D Q14738 protein phosphatase 2 regulatory subunit B'delta Enzyme 1.00 0.722 0.462
PURA Q00577 purine rich element binding protein A Nucleic acid binding 0.94 0.644 0.500
RAC1 P63000 Rac family small GTPase 1 Enzyme modulator 0.76 0.429 0.962
SCN8A Q9UQD0 sodium voltage-gated channel alpha subunit 8 Ion channel 1.00 0.510 0.731
SLC16A2 P36021 solute carrier family 16 member 2 Transporter 0.99 0.592 0.577
SLC9A6 Q92581 solute carrier family 9 member A6 Transporter 1.00 0.516 0.846
SOX5 P35711 SRY-box transcription factor 5 1.00 0.545 0.769