Disease: Global developmental delay
Source: INFERRED ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
KAT14 Q9H8E8 lysine acetyltransferase 14 1.3E-09 0.890 0.077
USP45 Q70EL2 ubiquitin specific peptidase 45 Enzyme 1.4E-17 0.792 0.154
PMPCB O75439 peptidase, mitochondrial processing subunit beta Enzyme 4.5E-08 0.769 0.192
KLHL15 Q96M94 kelch like family member 15 0.99 0.805 0.192
BORCS5 Q969J3 BLOC-1 related complex subunit 5 1.2E-03 0.805 0.192
FCSK Q8N0W3 fucose kinase Kinase 1.0E-29 0.769 0.192
QARS1 P47897 glutaminyl-tRNA synthetase 1 Enzyme 2.7E-13 0.716 0.231
TUBG1 P23258 tubulin gamma 1 Cellular structure 0.13 0.729 0.231
PLPBP O94903 pyridoxal phosphate binding protein 4.0E-02 0.736 0.231
FRRS1L Q9P0K9 ferric chelate reductase 1 like 1.5E-03 0.666 0.231
ALG6 Q9Y672 ALG6 alpha-1,3-glucosyltransferase Enzyme 3.1E-04 0.805 0.231
PIGG Q5H8A4 phosphatidylinositol glycan anchor biosynthesis class G 5.4E-15 0.792 0.231
ISCA1 Q9BUE6 iron-sulfur cluster assembly 1 0.17 0.792 0.231
BRAT1 Q6PJG6 BRCA1 associated ATM activator 1 7.4E-13 0.695 0.231
MFSD8 Q8NHS3 major facilitator superfamily domain containing 8 2.5E-12 0.682 0.231
BOLA3 Q53S33 bolA family member 3 0.15 0.760 0.231
GAMT Q14353 guanidinoacetate N-methyltransferase 9.5E-03 0.691 0.269
MED17 Q9NVC6 mediator complex subunit 17 3.1E-09 0.769 0.269
SLC45A1 Q9Y2W3 solute carrier family 45 member 1 Transporter 2.5E-05 0.674 0.269
NMNAT1 Q9HAN9 nicotinamide nucleotide adenylyltransferase 1 Enzyme 3.5E-02 0.656 0.269
LCA5 Q86VQ0 lebercilin LCA5 4.1E-05 0.674 0.269
KCNJ13 O60928 potassium inwardly rectifying channel subfamily J member 13 Ion channel 1.4E-02 0.659 0.308
SLC35A3 Q9Y2D2 solute carrier family 35 member A3 Transporter 2.6E-03 0.716 0.308
MCCC1 Q96RQ3 methylcrotonoyl-CoA carboxylase 1 Enzyme 4.0E-12 0.700 0.308
MPP4 Q96JB8 membrane palmitoylated protein 4 Enzyme 3.4E-18 0.792 0.308