Disease: Severe global developmental delay
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ARX Q96QS3 aristaless related homeobox 0.91 0.516 0.654
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808
LIAS O43766 lipoic acid synthetase 2.3E-05 0.695 0.538
MTOR P42345 mechanistic target of rapamycin kinase Kinase 1.00 0.343 0.885
PEX1 O43933 peroxisomal biogenesis factor 1 1.1E-14 0.538 0.769
PEX10 O60683 peroxisomal biogenesis factor 10 5.4E-04 0.584 0.654
PEX11B O96011 peroxisomal biogenesis factor 11 beta 1.3E-04 0.612 0.654
PEX12 O00623 peroxisomal biogenesis factor 12 Transporter 9.5E-16 0.601 0.615
PEX13 Q92968 peroxisomal biogenesis factor 13 5.9E-05 0.597 0.654
PEX14 O75381 peroxisomal biogenesis factor 14 Receptor 0.23 0.592 0.692
PEX16 Q9Y5Y5 peroxisomal biogenesis factor 16 8.3E-05 0.597 0.615
PEX19 P40855 peroxisomal biogenesis factor 19 Storage 3.2E-04 0.585 0.731
PEX2 P28328 peroxisomal biogenesis factor 2 2.6E-04 0.582 0.654
PEX26 Q7Z412 peroxisomal biogenesis factor 26 0.93 0.584 0.615
PEX3 P56589 peroxisomal biogenesis factor 3 1.6E-02 0.595 0.731
PEX5 P50542 peroxisomal biogenesis factor 5 Transporter 5.6E-05 0.561 0.731
PEX6 Q13608 peroxisomal biogenesis factor 6 6.3E-06 0.547 0.731
PGAP3 Q96FM1 post-GPI attachment to proteins phospholipase 3 1.9E-03 0.628 0.731
UNC80 Q8N2C7 unc-80 homolog, NALCN channel complex subunit 5.2E-02 0.626 0.462
ZNF335 Q9H4Z2 zinc finger protein 335 Transcription factor 6.9E-07 0.711 0.462